Mutation - TCGA Type Chromosome Start Position End Position Strand Variant Classification Variant Type Reference Allele Tumor_seq Allele 1 Tumor_seq Allele 2 Tumor Sample Barcode Matched Norm Sample Barcode Genome Change cDNA Change Codon Change Protein Change BLCA 17 58258810 58258810 + Missense_Mutation SNP C C T TCGA-DK-A6B5-01A-11D-A31L-08 TCGA-DK-A6B5-10A-01D-A31J-08 g.chr17:58258810C>T c.4423G>A c.(4423-4425)Gag>Aag p.E1475K BLCA 17 58260575 58260575 + Silent SNP C C G TCGA-4Z-AA86-01A-11D-A391-08 TCGA-4Z-AA86-10A-01D-A394-08 g.chr17:58260575C>G c.4074G>C c.(4072-4074)ctG>ctC p.L1358L BLCA 17 58260692 58260692 + Silent SNP G G A TCGA-DK-A6B6-01A-11D-A30E-08 TCGA-DK-A6B6-10A-01D-A30H-08 g.chr17:58260692G>A c.3957C>T c.(3955-3957)ctC>ctT p.L1319L BLCA 17 58260712 58260712 + Missense_Mutation SNP C C T TCGA-FD-A3B4-01A-12D-A202-08 TCGA-FD-A3B4-10A-01D-A202-08 g.chr17:58260712C>T c.3937G>A c.(3937-3939)Gta>Ata p.V1313I BLCA 17 58268030 58268030 + Missense_Mutation SNP C C A TCGA-G2-A3IB-01A-11D-A20D-08 TCGA-G2-A3IB-10A-01D-A20D-08 g.chr17:58268030C>A c.3536G>T c.(3535-3537)tGt>tTt p.C1179F BLCA 17 58270257 58270257 + Missense_Mutation SNP G G C TCGA-FD-A5BX-01A-11D-A26M-08 TCGA-FD-A5BX-10A-01D-A26K-08 g.chr17:58270257G>C c.3469C>G c.(3469-3471)Cta>Gta p.L1157V BLCA 17 58275713 58275713 + Silent SNP C C T TCGA-K4-A6FZ-01A-11D-A31L-08 TCGA-K4-A6FZ-10A-01D-A31J-08 g.chr17:58275713C>T c.3342G>A c.(3340-3342)cgG>cgA p.R1114R BLCA 17 58275806 58275806 + Splice_Site SNP C C T TCGA-K4-A83P-01A-11D-A34U-08 TCGA-K4-A83P-10A-01D-A34X-08 g.chr17:58275806C>T c.e27-1 BLCA 17 58282946 58282946 + Silent SNP G G A TCGA-DK-AA71-01A-31D-A391-08 TCGA-DK-AA71-10A-01D-A394-08 g.chr17:58282946G>A c.3111C>T c.(3109-3111)ttC>ttT p.F1037F BLCA 17 58285486 58285486 + Silent SNP C C G TCGA-SY-A9G5-01A-11D-A38G-08 TCGA-SY-A9G5-10A-01D-A38J-08 g.chr17:58285486C>G c.2859G>C c.(2857-2859)ctG>ctC p.L953L BLCA 17 58286164 58286164 + Missense_Mutation SNP T T C TCGA-CF-A1HR-01A-11D-A13W-08 TCGA-CF-A1HR-10A-01D-A13W-08 g.chr17:58286164T>C c.2624A>G c.(2623-2625)aAt>aGt p.N875S BLCA 17 58288742 58288742 + Silent SNP G G C TCGA-DK-A3X1-01A-12D-A22Z-08 TCGA-DK-A3X1-10A-01D-A22Z-08 g.chr17:58288742G>C c.2313C>G c.(2311-2313)ctC>ctG p.L771L BLCA 17 58288867 58288867 + Missense_Mutation SNP C C G TCGA-CU-A3YL-01A-11D-A22Z-08 TCGA-CU-A3YL-10A-01D-A22Z-08 g.chr17:58288867C>G c.2188G>C c.(2188-2190)Gaa>Caa p.E730Q BLCA 17 58289393 58289393 + Missense_Mutation SNP C C T TCGA-XF-A9T8-01A-11D-A391-08 TCGA-XF-A9T8-10A-01D-A394-08 g.chr17:58289393C>T c.2171G>A c.(2170-2172)aGa>aAa p.R724K BLCA 17 58289433 58289433 + Missense_Mutation SNP C C G TCGA-CU-A3YL-01A-11D-A22Z-08 TCGA-CU-A3YL-10A-01D-A22Z-08 g.chr17:58289433C>G c.2131G>C c.(2131-2133)Gag>Cag p.E711Q BLCA 17 58289433 58289433 + Nonsense_Mutation SNP C C A TCGA-XF-A9T8-01A-11D-A391-08 TCGA-XF-A9T8-10A-01D-A394-08 g.chr17:58289433C>A c.2131G>T c.(2131-2133)Gag>Tag p.E711* BLCA 17 58300841 58300841 + Silent SNP C C T TCGA-ZF-AA51-01A-21D-A391-08 TCGA-ZF-AA51-10A-01D-A394-08 g.chr17:58300841C>T c.1539G>A c.(1537-1539)ttG>ttA p.L513L BLCA 17 58313541 58313541 + Silent SNP G G A TCGA-DK-A3IU-01A-11D-A20D-08 TCGA-DK-A3IU-10A-01D-A20D-08 g.chr17:58313541G>A c.1197C>T c.(1195-1197)atC>atT p.I399I BLCA 17 58348774 58348774 + Nonsense_Mutation SNP G G A TCGA-DK-A3IL-01A-11D-A20D-08 TCGA-DK-A3IL-10A-01D-A20D-08 g.chr17:58348774G>A c.640C>T c.(640-642)Cga>Tga p.R214* BLCA 17 58365902 58365902 + Silent SNP G G A TCGA-XF-A9SG-01A-12D-A42E-08 TCGA-XF-A9SG-10A-01D-A42H-08 g.chr17:58365902G>A c.553C>T c.(553-555)Ctg>Ttg p.L185L BLCA 17 58365912 58365912 + Silent SNP G G A TCGA-XF-A9SG-01A-12D-A42E-08 TCGA-XF-A9SG-10A-01D-A42H-08 g.chr17:58365912G>A c.543C>T c.(541-543)ttC>ttT p.F181F BLCA 17 58372085 58372085 + Missense_Mutation SNP C C G TCGA-S5-A6DX-01A-11D-A31L-08 TCGA-S5-A6DX-10A-01D-A31J-08 g.chr17:58372085C>G c.370G>C c.(370-372)Gat>Cat p.D124H BLCA 17 58372085 58372085 + Missense_Mutation SNP C C T TCGA-GV-A40E-01A-12D-A23M-08 TCGA-GV-A40E-10A-01D-A23K-08 g.chr17:58372085C>T c.370G>A c.(370-372)Gat>Aat p.D124N BLCA 17 58422944 58422944 + Silent SNP C C T TCGA-DK-A3IU-01A-11D-A20D-08 TCGA-DK-A3IU-10A-01D-A20D-08 g.chr17:58422944C>T c.84G>A c.(82-84)ctG>ctA p.L28L BLCA 17 58422964 58422964 + Missense_Mutation SNP C C A TCGA-4Z-AA86-01A-11D-A391-08 TCGA-4Z-AA86-10A-01D-A394-08 g.chr17:58422964C>A c.64G>T c.(64-66)Gat>Tat p.D22Y BRCA 17 58256660 58256660 + Missense_Mutation SNP C C T TCGA-AO-A03M-01B-11D-A10M-09 TCGA-AO-A03M-10A-01D-A10M-09 g.chr17:58256660C>T c.4771G>A c.(4771-4773)Gaa>Aaa p.E1591K BRCA 17 58258723 58258723 + Missense_Mutation SNP T T C TCGA-BH-A18G-01A-11D-A12B-09 TCGA-BH-A18G-10A-01D-A12B-09 g.chr17:58258723T>C c.4510A>G c.(4510-4512)Act>Gct p.T1504A BRCA 17 58258807 58258807 + Missense_Mutation SNP G G C TCGA-OL-A5RZ-01A-11D-A28B-09 TCGA-OL-A5RZ-10A-01D-A28E-09 g.chr17:58258807G>C c.4426C>G c.(4426-4428)Cat>Gat p.H1476D BRCA 17 58258980 58258980 + Frame_Shift_Del DEL T T - TCGA-BH-A18G-01A-11D-A12B-09 TCGA-BH-A18G-10A-01D-A12B-09 g.chr17:58258980delT c.4253delA c.(4252-4254)aatfs p.N1418fs BRCA 17 58260550 58260550 + Missense_Mutation SNP C C T TCGA-AO-A12B-01A-11D-A10M-09 TCGA-AO-A12B-10A-01D-A10M-09 g.chr17:58260550C>T c.4099G>A c.(4099-4101)Gct>Act p.A1367T BRCA 17 58260600 58260600 + Missense_Mutation SNP G G A TCGA-AN-A046-01A-21W-A050-09 TCGA-AN-A046-10A-01W-A055-09 g.chr17:58260600G>A c.4049C>T c.(4048-4050)tCg>tTg p.S1350L BRCA 17 58260613 58260613 + Missense_Mutation SNP C C G TCGA-C8-A26Y-01A-11D-A16D-09 TCGA-C8-A26Y-10A-01D-A16D-09 g.chr17:58260613C>G c.4036G>C c.(4036-4038)Gat>Cat p.D1346H BRCA 17 58260771 58260771 + Missense_Mutation SNP A A G TCGA-B6-A1KF-01A-11D-A13L-09 TCGA-B6-A1KF-10A-01W-A14R-09 g.chr17:58260771A>G c.3878T>C c.(3877-3879)aTa>aCa p.I1293T BRCA 17 58275761 58275761 + Silent SNP G G A TCGA-D8-A1Y3-01A-11D-A159-09 TCGA-D8-A1Y3-10A-01D-A159-09 g.chr17:58275761G>A c.3294C>T c.(3292-3294)ccC>ccT p.P1098P BRCA 17 58275782 58275782 + Silent SNP C C T TCGA-AR-A1AI-01A-11D-A12Q-09 TCGA-AR-A1AI-10A-01D-A12Q-09 g.chr17:58275782C>T c.3273G>A c.(3271-3273)ctG>ctA p.L1091L BRCA 17 58286768 58286768 + Missense_Mutation SNP T T C TCGA-BH-A18G-01A-11D-A12B-09 TCGA-BH-A18G-10A-01D-A12B-09 g.chr17:58286768T>C c.2561A>G c.(2560-2562)gAc>gGc p.D854G BRCA 17 58289418 58289418 + Missense_Mutation SNP T T C TCGA-AC-A3YJ-01A-11D-A22X-09 TCGA-AC-A3YJ-10A-01D-A22X-09 g.chr17:58289418T>C c.2146A>G c.(2146-2148)Ata>Gta p.I716V CESC 17 58260600 58260600 + Missense_Mutation SNP G G A TCGA-C5-A1BQ-01C-11D-A20U-09 TCGA-C5-A1BQ-10A-01D-A20U-09 g.chr17:58260600G>A c.4049C>T c.(4048-4050)tCg>tTg p.S1350L CESC 17 58288768 58288768 + Missense_Mutation SNP T T A TCGA-IR-A3LK-01A-12D-A20U-09 TCGA-IR-A3LK-10A-01D-A20U-09 g.chr17:58288768T>A c.2287A>T c.(2287-2289)Atc>Ttc p.I763F CESC 17 58292072 58292072 + Missense_Mutation SNP C C A TCGA-IR-A3LL-01A-11D-A20U-09 TCGA-IR-A3LL-10A-01D-A20U-09 g.chr17:58292072C>A c.1931G>T c.(1930-1932)cGa>cTa p.R644L CESC 17 58303502 58303502 + Missense_Mutation SNP C C T TCGA-C5-A7CL-01A-11D-A32I-09 TCGA-C5-A7CL-10A-01D-A32I-09 g.chr17:58303502C>T c.1330G>A c.(1330-1332)Gaa>Aaa p.E444K CESC 17 58303537 58303537 + Missense_Mutation SNP G G A TCGA-JW-A852-01A-11D-A351-09 TCGA-JW-A852-10A-01D-A351-09 g.chr17:58303537G>A c.1295C>T c.(1294-1296)tCa>tTa p.S432L COAD 17 58257983 58257983 + Missense_Mutation SNP G G T TCGA-AA-A010-01A-01W-A00E-09 TCGA-AA-A010-10A-01W-A00E-09 g.chr17:58257983G>T c.4564C>A c.(4564-4566)Ctg>Atg p.L1522M COAD 17 58258875 58258875 + Frame_Shift_Del DEL C C - TCGA-AA-3663-01A-01D-1719-10 TCGA-AA-3663-11A-01D-1719-10 g.chr17:58258875delC c.4358delG c.(4357-4359)ggcfs p.G1453fs COAD 17 58258970 58258970 + Silent SNP T T C TCGA-AA-3815-01A-01W-0995-10 TCGA-AA-3815-10A-01W-0995-10 g.chr17:58258970T>C c.4263A>G c.(4261-4263)tcA>tcG p.S1421S COAD 17 58259020 58259020 + Missense_Mutation SNP T T A TCGA-AY-6196-01A-11D-1719-10 TCGA-AY-6196-10A-01D-1719-10 g.chr17:58259020T>A c.4213A>T c.(4213-4215)Agc>Tgc p.S1405C COAD 17 58275693 58275693 + Missense_Mutation SNP G G A TCGA-AD-6964-01A-11D-1924-10 TCGA-AD-6964-10A-01D-1924-10 g.chr17:58275693G>A c.3362C>T c.(3361-3363)gCg>gTg p.A1121V COAD 17 58284447 58284447 + Missense_Mutation SNP A A C TCGA-AA-3984-01A-02W-0995-10 TCGA-AA-3984-10A-01W-0999-10 g.chr17:58284447A>C c.2972T>G c.(2971-2973)tTt>tGt p.F991C COAD 17 58286133 58286133 + Silent SNP C C G TCGA-AA-A01R-01A-21W-A096-10 TCGA-AA-A01R-11A-12W-A096-10 g.chr17:58286133C>G c.2655G>C c.(2653-2655)ggG>ggC p.G885G COAD 17 58288376 58288376 + Missense_Mutation SNP G G A TCGA-AA-3977-01A-01W-0995-10 TCGA-AA-3977-10A-01W-0999-10 g.chr17:58288376G>A c.2422C>T c.(2422-2424)Cgg>Tgg p.R808W COAD 17 58299883 58299883 + Nonsense_Mutation SNP G G A TCGA-AA-3492-01A-01D-1408-10 TCGA-AA-3492-11A-01D-1408-10 g.chr17:58299883G>A c.1636C>T c.(1636-1638)Cga>Tga p.R546* COAD 17 58346903 58346903 + Missense_Mutation SNP A A C TCGA-CA-6718-01A-11D-1835-10 TCGA-CA-6718-10A-01D-1835-10 g.chr17:58346903A>C c.719T>G c.(718-720)tTt>tGt p.F240C COAD 17 58348792 58348792 + Missense_Mutation SNP C C T TCGA-AA-3543-01A-01W-0833-10 TCGA-AA-3543-10A-01W-0833-10 g.chr17:58348792C>T c.622G>A c.(622-624)Gct>Act p.A208T COAD 17 58348793 58348793 + Missense_Mutation SNP C C G TCGA-AU-3779-01A-01D-1719-10 TCGA-AU-3779-10A-01D-1719-10 g.chr17:58348793C>G c.621G>C c.(619-621)aaG>aaC p.K207N COAD 17 58365901 58365902 + Frame_Shift_Del DEL AG AG - TCGA-AA-3516-01A-02W-0833-10 TCGA-AA-3516-10A-01W-0833-10 g.chr17:58365901_58365902delAG c.553_554delCT c.(553-555)ctgfs p.L185fs COAD 17 58365949 58365949 + Missense_Mutation SNP T T C TCGA-AA-3845-01A-01W-0995-10 TCGA-AA-3845-10A-01W-0995-10 g.chr17:58365949T>C c.506A>G c.(505-507)tAt>tGt p.Y169C COAD 17 58372158 58372158 + Missense_Mutation SNP A A C TCGA-AA-A010-01A-01W-A00E-09 TCGA-AA-A010-10A-01W-A00E-09 g.chr17:58372158A>C c.297T>G c.(295-297)atT>atG p.I99M COADREAD 17 58257983 58257983 + Missense_Mutation SNP G G T TCGA-AA-A010-01A-01W-A00E-09 TCGA-AA-A010-10A-01W-A00E-09 g.chr17:58257983G>T c.4564C>A c.(4564-4566)Ctg>Atg p.L1522M COADREAD 17 58258875 58258875 + Frame_Shift_Del DEL C C - TCGA-AA-3663-01A-01D-1719-10 TCGA-AA-3663-11A-01D-1719-10 g.chr17:58258875delC c.4358delG c.(4357-4359)ggcfs p.G1453fs COADREAD 17 58258970 58258970 + Silent SNP T T C TCGA-AA-3815-01A-01W-0995-10 TCGA-AA-3815-10A-01W-0995-10 g.chr17:58258970T>C c.4263A>G c.(4261-4263)tcA>tcG p.S1421S COADREAD 17 58259020 58259020 + Missense_Mutation SNP T T A TCGA-AY-6196-01A-11D-1719-10 TCGA-AY-6196-10A-01D-1719-10 g.chr17:58259020T>A c.4213A>T c.(4213-4215)Agc>Tgc p.S1405C COADREAD 17 58260756 58260756 + Missense_Mutation SNP A A C TCGA-AG-3892-01A-01W-1073-09 TCGA-AG-3892-10A-01W-1073-09 g.chr17:58260756A>C c.3893T>G c.(3892-3894)aTt>aGt p.I1298S COADREAD 17 58275693 58275693 + Missense_Mutation SNP G G A TCGA-AD-6964-01A-11D-1924-10 TCGA-AD-6964-10A-01D-1924-10 g.chr17:58275693G>A c.3362C>T c.(3361-3363)gCg>gTg p.A1121V COADREAD 17 58275693 58275693 + Missense_Mutation SNP G G A TCGA-AG-A002-01A-01W-A00K-09 TCGA-AG-A002-10A-01W-A00K-09 g.chr17:58275693G>A c.3362C>T c.(3361-3363)gCg>gTg p.A1121V COADREAD 17 58284447 58284447 + Missense_Mutation SNP A A C TCGA-AA-3984-01A-02W-0995-10 TCGA-AA-3984-10A-01W-0999-10 g.chr17:58284447A>C c.2972T>G c.(2971-2973)tTt>tGt p.F991C COADREAD 17 58286133 58286133 + Silent SNP C C G TCGA-AA-A01R-01A-21W-A096-10 TCGA-AA-A01R-11A-12W-A096-10 g.chr17:58286133C>G c.2655G>C c.(2653-2655)ggG>ggC p.G885G COADREAD 17 58288376 58288376 + Missense_Mutation SNP G G A TCGA-AA-3977-01A-01W-0995-10 TCGA-AA-3977-10A-01W-0999-10 g.chr17:58288376G>A c.2422C>T c.(2422-2424)Cgg>Tgg p.R808W COADREAD 17 58297087 58297087 + Missense_Mutation SNP A A G TCGA-DC-6160-01A-11D-1657-10 TCGA-DC-6160-10A-01D-1657-10 g.chr17:58297087A>G c.1811T>C c.(1810-1812)tTc>tCc p.F604S COADREAD 17 58299883 58299883 + Nonsense_Mutation SNP G G A TCGA-AA-3492-01A-01D-1408-10 TCGA-AA-3492-11A-01D-1408-10 g.chr17:58299883G>A c.1636C>T c.(1636-1638)Cga>Tga p.R546* COADREAD 17 58346903 58346903 + Missense_Mutation SNP A A C TCGA-CA-6718-01A-11D-1835-10 TCGA-CA-6718-10A-01D-1835-10 g.chr17:58346903A>C c.719T>G c.(718-720)tTt>tGt p.F240C COADREAD 17 58348792 58348792 + Missense_Mutation SNP C C T TCGA-AA-3543-01A-01W-0833-10 TCGA-AA-3543-10A-01W-0833-10 g.chr17:58348792C>T c.622G>A c.(622-624)Gct>Act p.A208T COADREAD 17 58348793 58348793 + Missense_Mutation SNP C C G TCGA-AU-3779-01A-01D-1719-10 TCGA-AU-3779-10A-01D-1719-10 g.chr17:58348793C>G c.621G>C c.(619-621)aaG>aaC p.K207N COADREAD 17 58365901 58365902 + Frame_Shift_Del DEL AG AG - TCGA-AA-3516-01A-02W-0833-10 TCGA-AA-3516-10A-01W-0833-10 g.chr17:58365901_58365902delAG c.553_554delCT c.(553-555)ctgfs p.L185fs COADREAD 17 58365949 58365949 + Missense_Mutation SNP T T C TCGA-AA-3845-01A-01W-0995-10 TCGA-AA-3845-10A-01W-0995-10 g.chr17:58365949T>C c.506A>G c.(505-507)tAt>tGt p.Y169C COADREAD 17 58365981 58365981 + Silent SNP A A C TCGA-F5-6465-01A-11D-1733-10 TCGA-F5-6465-10A-01D-1733-10 g.chr17:58365981A>C c.474T>G c.(472-474)acT>acG p.T158T COADREAD 17 58372050 58372050 + Missense_Mutation SNP G G T TCGA-AG-A002-01A-01W-A00K-09 TCGA-AG-A002-10A-01W-A00K-09 g.chr17:58372050G>T c.405C>A c.(403-405)ttC>ttA p.F135L COADREAD 17 58372158 58372158 + Missense_Mutation SNP A A C TCGA-AA-A010-01A-01W-A00E-09 TCGA-AA-A010-10A-01W-A00E-09 g.chr17:58372158A>C c.297T>G c.(295-297)atT>atG p.I99M ESCA 17 58275786 58275786 + Missense_Mutation SNP A A T TCGA-VR-A8EY-01A-11D-A36J-09 TCGA-VR-A8EY-10A-01D-A36M-09 g.chr17:58275786A>T c.3269T>A c.(3268-3270)tTc>tAc p.F1090Y ESCA 17 58289386 58289386 + Splice_Site SNP C C G TCGA-LN-A49V-01A-11D-A247-09 TCGA-LN-A49V-10A-01D-A247-09 g.chr17:58289386C>G c.2178G>C c.(2176-2178)aaG>aaC p.K726N ESCA 17 58372092 58372092 + Silent SNP G G A TCGA-R6-A8W8-01B-11D-A37C-09 TCGA-R6-A8W8-10A-01D-A37F-09 g.chr17:58372092G>A c.363C>T c.(361-363)caC>caT p.H121H GBM 17 58258719 58258719 + Missense_Mutation SNP C C T TCGA-27-2524-01A-01D-1494-08 TCGA-27-2524-10A-01D-1494-08 g.chr17:58258719C>T c.4514G>A c.(4513-4515)cGt>cAt p.R1505H GBMLGG 17 58258719 58258719 + Missense_Mutation SNP C C T TCGA-27-2524-01A-01D-1494-08 TCGA-27-2524-10A-01D-1494-08 g.chr17:58258719C>T c.4514G>A c.(4513-4515)cGt>cAt p.R1505H GBMLGG 17 58259033 58259033 + Silent SNP C C T TCGA-HT-8564-01A-11D-2395-08 TCGA-HT-8564-10A-01D-2396-08 g.chr17:58259033C>T c.4200G>A c.(4198-4200)cgG>cgA p.R1400R GBMLGG 17 58260799 58260799 + Nonsense_Mutation SNP G G A TCGA-DU-6392-01A-11D-1705-08 TCGA-DU-6392-10A-01D-1705-08 g.chr17:58260799G>A c.3850C>T c.(3850-3852)Cga>Tga p.R1284* GBMLGG 17 58267980 58267980 + Missense_Mutation SNP C C T TCGA-DU-6392-01A-11D-1705-08 TCGA-DU-6392-10A-01D-1705-08 g.chr17:58267980C>T c.3586G>A c.(3586-3588)Gct>Act p.A1196T GBMLGG 17 58275770 58275770 + Silent SNP C C T TCGA-DU-6392-01A-11D-1705-08 TCGA-DU-6392-10A-01D-1705-08 g.chr17:58275770C>T c.3285G>A c.(3283-3285)aaG>aaA p.K1095K GBMLGG 17 58378974 58378975 + Frame_Shift_Del DEL TC TC - TCGA-HT-7684-01A-11D-2253-08 TCGA-HT-7684-10A-01D-2253-08 g.chr17:58378974_58378975delTC c.277_278delGA c.(277-279)gaafs p.E94fs HNSC 17 58257980 58257980 + Missense_Mutation SNP C C T TCGA-CQ-5324-01A-01D-1683-08 TCGA-CQ-5324-10A-01D-1683-08 g.chr17:58257980C>T c.4567G>A c.(4567-4569)Ggt>Agt p.G1523S HNSC 17 58258804 58258804 + Missense_Mutation SNP C C G TCGA-KU-A66S-01A-21D-A30E-08 TCGA-KU-A66S-10A-01D-A30H-08 g.chr17:58258804C>G c.4429G>C c.(4429-4431)Gaa>Caa p.E1477Q HNSC 17 58258922 58258922 + Silent SNP C C T TCGA-F7-A50J-01A-21D-A28R-08 TCGA-F7-A50J-10A-01D-A28U-08 g.chr17:58258922C>T c.4311G>A c.(4309-4311)caG>caA p.Q1437Q HNSC 17 58258936 58258936 + Missense_Mutation SNP T T A TCGA-CR-7370-01A-11D-2129-08 TCGA-CR-7370-10A-01D-2129-08 g.chr17:58258936T>A c.4297A>T c.(4297-4299)Aat>Tat p.N1433Y HNSC 17 58282903 58282903 + Missense_Mutation SNP C C T TCGA-CR-6481-01A-11D-1870-08 TCGA-CR-6481-10A-01D-1870-08 g.chr17:58282903C>T c.3154G>A c.(3154-3156)Gag>Aag p.E1052K HNSC 17 58288742 58288742 + Silent SNP G G C TCGA-CV-7427-01A-11D-2078-08 TCGA-CV-7427-10A-01D-2078-08 g.chr17:58288742G>C c.2313C>G c.(2311-2313)ctC>ctG p.L771L HNSC 17 58289457 58289457 + Missense_Mutation SNP G G A TCGA-CN-A640-01A-21D-A30E-08 TCGA-CN-A640-10A-01D-A30H-08 g.chr17:58289457G>A c.2107C>T c.(2107-2109)Cgc>Tgc p.R703C HNSC 17 58292126 58292126 + Missense_Mutation SNP G G T TCGA-CV-A6JO-01B-11D-A34J-08 TCGA-CV-A6JO-10A-01D-A34M-08 g.chr17:58292126G>T c.1877C>A c.(1876-1878)cCt>cAt p.P626H HNSC 17 58303585 58303585 + Missense_Mutation SNP T T C TCGA-CN-5369-01A-01D-1434-08 TCGA-CN-5369-10A-01D-1434-08 g.chr17:58303585T>C c.1247A>G c.(1246-1248)aAc>aGc p.N416S HNSC 17 58329765 58329765 + Silent SNP C C T TCGA-CR-7379-01A-11D-2012-08 TCGA-CR-7379-10A-01D-2013-08 g.chr17:58329765C>T c.1113G>A c.(1111-1113)ccG>ccA p.P371P KICH 17 58292024 58292024 + Missense_Mutation SNP C C T TCGA-KN-8429-01A-11D-2310-10 TCGA-KN-8429-11A-01D-2311-10 g.chr17:58292024C>T c.1979G>A c.(1978-1980)cGc>cAc p.R660H KIPAN 17 58262881 58262881 + Missense_Mutation SNP C C A TCGA-PJ-A8JU-01A-11D-A35Z-10 TCGA-PJ-A8JU-10A-01D-A35Z-10 g.chr17:58262881C>A c.3774G>T c.(3772-3774)aaG>aaT p.K1258N KIPAN 17 58292024 58292024 + Missense_Mutation SNP C C T TCGA-KN-8429-01A-11D-2310-10 TCGA-KN-8429-11A-01D-2311-10 g.chr17:58292024C>T c.1979G>A c.(1978-1980)cGc>cAc p.R660H KIPAN 17 58343414 58343414 + Missense_Mutation SNP G G A TCGA-B0-4819-01A-01D-1361-10 TCGA-B0-4819-11A-01D-1361-10 g.chr17:58343414G>A c.850C>T c.(850-852)Ctc>Ttc p.L284F KIPAN 17 58348812 58348812 + Missense_Mutation SNP T T G TCGA-BQ-5877-01A-11D-1589-08 TCGA-BQ-5877-11A-01D-1589-08 g.chr17:58348812T>G c.602A>C c.(601-603)aAa>aCa p.K201T KIRC 17 58343414 58343414 + Missense_Mutation SNP G G A TCGA-B0-4819-01A-01D-1361-10 TCGA-B0-4819-11A-01D-1361-10 g.chr17:58343414G>A c.850C>T c.(850-852)Ctc>Ttc p.L284F KIRP 17 58262881 58262881 + Missense_Mutation SNP C C A TCGA-PJ-A8JU-01A-11D-A35Z-10 TCGA-PJ-A8JU-10A-01D-A35Z-10 g.chr17:58262881C>A c.3774G>T c.(3772-3774)aaG>aaT p.K1258N KIRP 17 58348812 58348812 + Missense_Mutation SNP T T G TCGA-BQ-5877-01A-11D-1589-08 TCGA-BQ-5877-11A-01D-1589-08 g.chr17:58348812T>G c.602A>C c.(601-603)aAa>aCa p.K201T LGG 17 58259033 58259033 + Silent SNP C C T TCGA-HT-8564-01A-11D-2395-08 TCGA-HT-8564-10A-01D-2396-08 g.chr17:58259033C>T c.4200G>A c.(4198-4200)cgG>cgA p.R1400R LGG 17 58260799 58260799 + Nonsense_Mutation SNP G G A TCGA-DU-6392-01A-11D-1705-08 TCGA-DU-6392-10A-01D-1705-08 g.chr17:58260799G>A c.3850C>T c.(3850-3852)Cga>Tga p.R1284* LGG 17 58267980 58267980 + Missense_Mutation SNP C C T TCGA-DU-6392-01A-11D-1705-08 TCGA-DU-6392-10A-01D-1705-08 g.chr17:58267980C>T c.3586G>A c.(3586-3588)Gct>Act p.A1196T LGG 17 58275770 58275770 + Silent SNP C C T TCGA-DU-6392-01A-11D-1705-08 TCGA-DU-6392-10A-01D-1705-08 g.chr17:58275770C>T c.3285G>A c.(3283-3285)aaG>aaA p.K1095K LGG 17 58378974 58378975 + Frame_Shift_Del DEL TC TC - TCGA-HT-7684-01A-11D-2253-08 TCGA-HT-7684-10A-01D-2253-08 g.chr17:58378974_58378975delTC c.277_278delGA c.(277-279)gaafs p.E94fs LIHC 17 58260585 58260585 + Missense_Mutation SNP T T A TCGA-UB-A7MB-01A-11D-A33Q-10 TCGA-UB-A7MB-10A-01D-A33Q-10 g.chr17:58260585T>A c.4064A>T c.(4063-4065)gAc>gTc p.D1355V LIHC 17 58260713 58260713 + Missense_Mutation SNP C C A TCGA-RG-A7D4-01A-12D-A33Q-10 TCGA-RG-A7D4-10A-01D-A33Q-10 g.chr17:58260713C>A c.3936G>T c.(3934-3936)ttG>ttT p.L1312F LUAD 17 58258864 58258864 + Nonsense_Mutation SNP C C A TCGA-50-5930-01A-11D-1753-08 TCGA-50-5930-11A-01D-1753-08 g.chr17:58258864C>A c.4369G>T c.(4369-4371)Gag>Tag p.E1457* LUAD 17 58260567 58260567 + Missense_Mutation SNP C C T TCGA-55-8512-01A-11D-2393-08 TCGA-55-8512-10A-01D-2393-08 g.chr17:58260567C>T c.4082G>A c.(4081-4083)aGc>aAc p.S1361N LUAD 17 58262976 58262976 + Missense_Mutation SNP G G C TCGA-97-A4M1-01A-11D-A24P-08 TCGA-97-A4M1-10A-01D-A24P-08 g.chr17:58262976G>C c.3679C>G c.(3679-3681)Cga>Gga p.R1227G LUAD 17 58270219 58270219 + Missense_Mutation SNP C C A TCGA-17-Z049-01A-01W-0746-08 TCGA-17-Z049-11A-01W-0747-08 g.chr17:58270219C>A c.3507G>T c.(3505-3507)tgG>tgT p.W1169C LUAD 17 58297057 58297057 + Missense_Mutation SNP T T A TCGA-86-8359-01A-11D-2323-08 TCGA-86-8359-10A-01D-2323-08 g.chr17:58297057T>A c.1841A>T c.(1840-1842)cAg>cTg p.Q614L LUAD 17 58299774 58299774 + Missense_Mutation SNP C C G TCGA-93-A4JQ-01A-11D-A24P-08 TCGA-93-A4JQ-10A-01D-A24P-08 g.chr17:58299774C>G c.1745G>C c.(1744-1746)aGa>aCa p.R582T LUAD 17 58299796 58299796 + Nonsense_Mutation SNP C C A TCGA-78-8640-01A-11D-2393-08 TCGA-78-8640-11A-01D-2393-08 g.chr17:58299796C>A c.1723G>T c.(1723-1725)Gga>Tga p.G575* LUAD 17 58300927 58300927 + Missense_Mutation SNP G G T TCGA-50-5930-01A-11D-1753-08 TCGA-50-5930-11A-01D-1753-08 g.chr17:58300927G>T c.1453C>A c.(1453-1455)Cca>Aca p.P485T LUAD 17 58303470 58303470 + Silent SNP C C T TCGA-69-7980-01A-11D-2184-08 TCGA-69-7980-10A-01D-2184-08 g.chr17:58303470C>T c.1362G>A c.(1360-1362)gtG>gtA p.V454V LUAD 17 58313588 58313588 + Nonsense_Mutation SNP G G A TCGA-17-Z055-01A-01W-0747-08 TCGA-17-Z055-11A-01W-0747-08 g.chr17:58313588G>A c.1150C>T c.(1150-1152)Cga>Tga p.R384* LUAD 17 58332590 58332590 + Silent SNP C C T TCGA-17-Z026-01A-01W-0746-08 TCGA-17-Z026-11A-01W-0746-08 g.chr17:58332590C>T c.1020G>A c.(1018-1020)caG>caA p.Q340Q LUAD 17 58343443 58343443 + Missense_Mutation SNP T T A TCGA-95-7567-01A-11D-2063-08 TCGA-95-7567-10A-01D-2063-08 g.chr17:58343443T>A c.821A>T c.(820-822)aAg>aTg p.K274M LUAD 17 58366009 58366009 + Missense_Mutation SNP C C A TCGA-44-5644-01A-21D-2036-08 TCGA-44-5644-10A-01D-2036-08 g.chr17:58366009C>A c.446G>T c.(445-447)tGg>tTg p.W149L LUAD 17 58422958 58422958 + Missense_Mutation SNP C C G TCGA-44-A47A-01A-21D-A24D-08 TCGA-44-A47A-10A-01D-A24F-08 g.chr17:58422958C>G c.70G>C c.(70-72)Gag>Cag p.E24Q LUSC 17 58256732 58256732 + Nonsense_Mutation SNP G G A TCGA-33-4586-01A-01D-1441-08 TCGA-33-4586-11A-01D-1441-08 g.chr17:58256732G>A c.4699C>T c.(4699-4701)Cag>Tag p.Q1567* LUSC 17 58257998 58257998 + Splice_Site SNP A A G TCGA-34-5232-01A-21D-1817-08 TCGA-34-5232-10A-01D-1817-08 g.chr17:58257998A>G c.4549T>C c.(4549-4551)Tgc>Cgc p.C1517R LUSC 17 58260692 58260692 + Silent SNP G G C TCGA-66-2791-01A-01D-0983-08 TCGA-66-2791-11A-01D-0983-08 g.chr17:58260692G>C c.3957C>G c.(3955-3957)ctC>ctG p.L1319L LUSC 17 58260814 58260814 + Splice_Site SNP T T C TCGA-37-4133-01A-01D-1352-08 TCGA-37-4133-10A-01D-1352-08 g.chr17:58260814T>C c.3835A>G c.(3835-3837)Att>Gtt p.I1279V LUSC 17 58262956 58262956 + Missense_Mutation SNP G G C TCGA-22-5489-01A-01D-1632-08 TCGA-22-5489-11A-01D-1632-08 g.chr17:58262956G>C c.3699C>G c.(3697-3699)atC>atG p.I1233M LUSC 17 58332618 58332618 + Splice_Site SNP A A T TCGA-18-3409-01A-01D-0983-08 TCGA-18-3409-11A-01D-0983-08 g.chr17:58332618A>T c.992T>A c.(991-993)aTg>aAg p.M331K OV 17 58258690 58258690 + Missense_Mutation SNP T T C TCGA-36-2552-01A-01D-1526-09 TCGA-36-2552-10A-01D-1526-09 g.chr17:58258690T>C c.4543A>G c.(4543-4545)Att>Gtt p.I1515V OV 17 58284466 58284466 + Nonsense_Mutation SNP G G A TCGA-29-1776-01A-01W-0639-09 TCGA-29-1776-10A-01W-0639-09 g.chr17:58284466G>A c.2953C>T c.(2953-2955)Cga>Tga p.R985* PAAD 17 58259106 58259106 + Missense_Mutation SNP G G T TCGA-IB-7651-01A-11D-2154-08 TCGA-IB-7651-10A-01D-2154-08 g.chr17:58259106G>T c.4127C>A c.(4126-4128)tCt>tAt p.S1376Y PAAD 17 58260584 58260584 + Silent SNP G G A TCGA-IB-7651-01A-11D-2154-08 TCGA-IB-7651-10A-01D-2154-08 g.chr17:58260584G>A c.4065C>T c.(4063-4065)gaC>gaT p.D1355D PAAD 17 58262867 58262867 + Missense_Mutation SNP C C T TCGA-IB-7651-01A-11D-2154-08 TCGA-IB-7651-10A-01D-2154-08 g.chr17:58262867C>T c.3788G>A c.(3787-3789)tGc>tAc p.C1263Y PAAD 17 58286188 58286188 + Splice_Site SNP G G A TCGA-IB-7651-01A-11D-2154-08 TCGA-IB-7651-10A-01D-2154-08 g.chr17:58286188G>A c.2600C>T c.(2599-2601)gCc>gTc p.A867V PAAD 17 58289395 58289395 + Silent SNP A A G TCGA-2J-AABV-01A-12D-A40W-08 TCGA-2J-AABV-10A-01D-A40W-08 g.chr17:58289395A>G c.2169T>C c.(2167-2169)gaT>gaC p.D723D PAAD 17 58292025 58292025 + Missense_Mutation SNP G G A TCGA-LB-A7SX-01A-11D-A33T-08 TCGA-LB-A7SX-10A-01D-A33W-08 g.chr17:58292025G>A c.1978C>T c.(1978-1980)Cgc>Tgc p.R660C PAAD 17 58422960 58422960 + Missense_Mutation SNP A A G TCGA-IB-7651-01A-11D-2154-08 TCGA-IB-7651-10A-01D-2154-08 g.chr17:58422960A>G c.68T>C c.(67-69)gTa>gCa p.V23A PCPG 17 58257980 58257980 + Missense_Mutation SNP C C T TCGA-QR-A6GO-01A-11D-A35D-08 TCGA-QR-A6GO-10A-01D-A35B-08 g.chr17:58257980C>T c.4567G>A c.(4567-4569)Ggt>Agt p.G1523S PCPG 17 58303433 58303433 + Missense_Mutation SNP T T C TCGA-SA-A6C2-01A-11D-A35I-08 TCGA-SA-A6C2-10A-01D-A35G-08 g.chr17:58303433T>C c.1399A>G c.(1399-1401)Act>Gct p.T467A PRAD 17 58275733 58275733 + Missense_Mutation SNP G G A TCGA-XK-AAIW-01A-11D-A41K-08 TCGA-XK-AAIW-10A-01D-A41N-08 g.chr17:58275733G>A c.3322C>T c.(3322-3324)Cca>Tca p.P1108S PRAD 17 58286900 58286900 + Missense_Mutation SNP G G A TCGA-XK-AAIW-01A-11D-A41K-08 TCGA-XK-AAIW-10A-01D-A41N-08 g.chr17:58286900G>A c.2429C>T c.(2428-2430)aCc>aTc p.T810I PRAD 17 58300782 58300782 + Missense_Mutation SNP T T G TCGA-FC-7961-01A-11D-A29Q-08 TCGA-FC-7961-10A-01D-A29Q-08 g.chr17:58300782T>G c.1598A>C c.(1597-1599)gAa>gCa p.E533A READ 17 58260756 58260756 + Missense_Mutation SNP A A C TCGA-AG-3892-01A-01W-1073-09 TCGA-AG-3892-10A-01W-1073-09 g.chr17:58260756A>C c.3893T>G c.(3892-3894)aTt>aGt p.I1298S READ 17 58275693 58275693 + Missense_Mutation SNP G G A TCGA-AG-A002-01A-01W-A00K-09 TCGA-AG-A002-10A-01W-A00K-09 g.chr17:58275693G>A c.3362C>T c.(3361-3363)gCg>gTg p.A1121V READ 17 58297087 58297087 + Missense_Mutation SNP A A G TCGA-DC-6160-01A-11D-1657-10 TCGA-DC-6160-10A-01D-1657-10 g.chr17:58297087A>G c.1811T>C c.(1810-1812)tTc>tCc p.F604S READ 17 58365981 58365981 + Silent SNP A A C TCGA-F5-6465-01A-11D-1733-10 TCGA-F5-6465-10A-01D-1733-10 g.chr17:58365981A>C c.474T>G c.(472-474)acT>acG p.T158T READ 17 58372050 58372050 + Missense_Mutation SNP G G T TCGA-AG-A002-01A-01W-A00K-09 TCGA-AG-A002-10A-01W-A00K-09 g.chr17:58372050G>T c.405C>A c.(403-405)ttC>ttA p.F135L SKCM 17 58258686 58258686 + Splice_Site SNP G G A TCGA-EE-A3JA-06A-11D-A20D-08 TCGA-EE-A3JA-10A-01D-A20D-08 g.chr17:58258686G>A c.4547C>T c.(4546-4548)tCg>tTg p.S1516L SKCM 17 58260778 58260778 + Missense_Mutation SNP G G A TCGA-FW-A3R5-06A-11D-A23B-08 TCGA-FW-A3R5-10A-01D-A23B-08 g.chr17:58260778G>A c.3871C>T c.(3871-3873)Cgg>Tgg p.R1291W SKCM 17 58275715 58275715 + Missense_Mutation SNP G G A TCGA-FW-A3R5-06A-11D-A23B-08 TCGA-FW-A3R5-10A-01D-A23B-08 g.chr17:58275715G>A c.3340C>T c.(3340-3342)Cgg>Tgg p.R1114W SKCM 17 58282963 58282963 + Silent SNP G G A TCGA-EE-A182-06A-11D-A196-08 TCGA-EE-A182-10A-01D-A198-08 g.chr17:58282963G>A c.3094C>T c.(3094-3096)Cta>Tta p.L1032L SKCM 17 58284461 58284461 + Silent SNP G G A TCGA-EE-A2MC-06A-12D-A197-08 TCGA-EE-A2MC-10A-01D-A199-08 g.chr17:58284461G>A c.2958C>T c.(2956-2958)ctC>ctT p.L986L SKCM 17 58288737 58288737 + Splice_Site SNP C C T TCGA-ER-A19N-06A-11D-A197-08 TCGA-ER-A19N-10A-01D-A199-08 g.chr17:58288737C>T c.2318G>A c.(2317-2319)aGg>aAg p.R773K SKCM 17 58299810 58299810 + Missense_Mutation SNP A A G TCGA-ER-A198-06A-11D-A196-08 TCGA-ER-A198-10A-01D-A198-08 g.chr17:58299810A>G c.1709T>C c.(1708-1710)cTt>cCt p.L570P SKCM 17 58300780 58300780 + Missense_Mutation SNP G G A TCGA-EE-A2GI-06A-11D-A196-08 TCGA-EE-A2GI-10A-01D-A198-08 g.chr17:58300780G>A c.1600C>T c.(1600-1602)Cca>Tca p.P534S SKCM 17 58300851 58300851 + Missense_Mutation SNP C C T TCGA-EE-A2MT-06A-11D-A197-08 TCGA-EE-A2MT-10A-01D-A199-08 g.chr17:58300851C>T c.1529G>A c.(1528-1530)gGg>gAg p.G510E SKCM 17 58303433 58303433 + Missense_Mutation SNP T T A TCGA-D3-A3MU-06A-11D-A21A-08 TCGA-D3-A3MU-10A-01D-A21A-08 g.chr17:58303433T>A c.1399A>T c.(1399-1401)Act>Tct p.T467S SKCM 17 58329766 58329766 + Missense_Mutation SNP G G A TCGA-D9-A149-06A-11D-A196-08 TCGA-D9-A149-10A-01D-A198-08 g.chr17:58329766G>A c.1112C>T c.(1111-1113)cCg>cTg p.P371L SKCM 17 58332545 58332545 + Silent SNP G G A TCGA-D3-A5GO-06A-12D-A27K-08 TCGA-D3-A5GO-10A-01D-A27N-08 g.chr17:58332545G>A c.1065C>T c.(1063-1065)ctC>ctT p.L355L SKCM 17 58343354 58343354 + Missense_Mutation SNP G G C TCGA-ER-A19P-06A-11D-A196-08 TCGA-ER-A19P-10A-01D-A198-08 g.chr17:58343354G>C c.910C>G c.(910-912)Cgc>Ggc p.R304G SKCM 17 58348745 58348745 + Missense_Mutation SNP C C A TCGA-ER-A19P-06A-11D-A196-08 TCGA-ER-A19P-10A-01D-A198-08 g.chr17:58348745C>A c.669G>T c.(667-669)ttG>ttT p.L223F SKCM 17 58348781 58348781 + Silent SNP C C T TCGA-EE-A29B-06A-11D-A197-08 TCGA-EE-A29B-10A-01D-A199-08 g.chr17:58348781C>T c.633G>A c.(631-633)cgG>cgA p.R211R SKCM 17 58366007 58366007 + Missense_Mutation SNP G G A TCGA-GN-A4U4-06A-11D-A32N-08 TCGA-GN-A4U4-10B-01D-A32N-08 g.chr17:58366007G>A c.448C>T c.(448-450)Ctt>Ttt p.L150F

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 58256660 58256660 single base substitution C T downstream_gene_variant BLCA-CN 17 58256660 58256660 single base substitution C T missense_variant E1261K 3781G>A BLCA-CN 17 58256660 58256660 single base substitution C T missense_variant E1591K 4771G>A BLCA-CN 17 58256660 58256660 single base substitution C T missense_variant E160K 478G>A BLCA-US 17 58268030 58268030 single base substitution C A missense_variant C1179F 3536G>T BLCA-US 17 58268030 58268030 single base substitution C A missense_variant C849F 2546G>T BLCA-US 17 58268030 58268030 single base substitution C A upstream_gene_variant BLCA-US 17 58286164 58286164 single base substitution T C downstream_gene_variant BLCA-US 17 58286164 58286164 single base substitution T C exon_variant BLCA-US 17 58286164 58286164 single base substitution T C missense_variant N545S 1634A>G BLCA-US 17 58286164 58286164 single base substitution T C missense_variant N875S 2624A>G BLCA-US 17 58288742 58288742 single base substitution G C downstream_gene_variant BLCA-US 17 58288742 58288742 single base substitution G C synonymous_variant L441L 1323C>G BLCA-US 17 58288742 58288742 single base substitution G C synonymous_variant L768L 2304C>G BLCA-US 17 58288742 58288742 single base substitution G C synonymous_variant L771L 2313C>G BLCA-US 17 58288742 58288742 single base substitution G C upstream_gene_variant BLCA-US 17 58288867 58288867 single base substitution C G downstream_gene_variant BLCA-US 17 58288867 58288867 single base substitution C G missense_variant E400Q 1198G>C BLCA-US 17 58288867 58288867 single base substitution C G missense_variant E727Q 2179G>C BLCA-US 17 58288867 58288867 single base substitution C G missense_variant E730Q 2188G>C BLCA-US 17 58288867 58288867 single base substitution C G upstream_gene_variant BLCA-US 17 58289433 58289433 single base substitution C G downstream_gene_variant BLCA-US 17 58289433 58289433 single base substitution C G missense_variant E381Q 1141G>C BLCA-US 17 58289433 58289433 single base substitution C G missense_variant E708Q 2122G>C BLCA-US 17 58289433 58289433 single base substitution C G missense_variant E711Q 2131G>C BLCA-US 17 58289433 58289433 single base substitution C G upstream_gene_variant BLCA-US 17 58313541 58313541 single base substitution G A synonymous_variant I103I 309C>T BLCA-US 17 58313541 58313541 single base substitution G A synonymous_variant I396I 1188C>T BLCA-US 17 58313541 58313541 single base substitution G A synonymous_variant I399I 1197C>T BLCA-US 17 58313541 58313541 single base substitution G A synonymous_variant I69I 207C>T BLCA-US 17 58372085 58372085 single base substitution C T intron_variant BLCA-US 17 58372085 58372085 single base substitution C T missense_variant D121N 361G>A BLCA-US 17 58372085 58372085 single base substitution C T missense_variant D124N 370G>A BLCA-US 17 58372085 58372085 single base substitution C T missense_variant D140N 418G>A BLCA-US 17 58422944 58422944 single base substitution C T exon_variant BLCA-US 17 58422944 58422944 single base substitution C T synonymous_variant L25L 75G>A BLCA-US 17 58422944 58422944 single base substitution C T synonymous_variant L28L 84G>A BLCA-US 17 58422944 58422944 single base substitution C T synonymous_variant L44L 132G>A BOCA-FR 17 58266937 58266937 single base substitution C G intron_variant BOCA-FR 17 58266937 58266937 single base substitution C G upstream_gene_variant BOCA-FR 17 58457362 58457362 single base substitution G A intron_variant BRCA-EU 17 58251498 58251498 single base substitution T G downstream_gene_variant BRCA-EU 17 58252767 58252767 deletion of <=200bp A - downstream_gene_variant BRCA-EU 17 58252863 58252863 single base substitution G A downstream_gene_variant BRCA-EU 17 58252930 58252930 single base substitution T A downstream_gene_variant BRCA-EU 17 58253159 58253159 single base substitution T A downstream_gene_variant BRCA-EU 17 58253973 58253973 single base substitution C T downstream_gene_variant BRCA-EU 17 58254716 58254716 single base substitution C T downstream_gene_variant BRCA-EU 17 58255801 58255801 single base substitution G T downstream_gene_variant BRCA-EU 17 58256542 58256542 single base substitution C T 3_prime_UTR_variant BRCA-EU 17 58256542 58256542 single base substitution C T downstream_gene_variant BRCA-EU 17 58257064 58257064 single base substitution G A downstream_gene_variant BRCA-EU 17 58257064 58257064 single base substitution G A intron_variant BRCA-EU 17 58257916 58257916 single base substitution C T downstream_gene_variant BRCA-EU 17 58257916 58257916 single base substitution C T intron_variant BRCA-EU 17 58257916 58257916 single base substitution C T missense_variant S1214N 3641G>A BRCA-EU 17 58257916 58257916 single base substitution C T missense_variant S1544N 4631G>A BRCA-EU 17 58258584 58258584 single base substitution G A downstream_gene_variant BRCA-EU 17 58258584 58258584 single base substitution G A intron_variant BRCA-EU 17 58258670 58258670 single base substitution T A downstream_gene_variant BRCA-EU 17 58258670 58258670 single base substitution T A intron_variant BRCA-EU 17 58259014 58259014 single base substitution C A downstream_gene_variant BRCA-EU 17 58259014 58259014 single base substitution C A missense_variant G1077W 3229G>T BRCA-EU 17 58259014 58259014 single base substitution C A missense_variant G1407W 4219G>T BRCA-EU 17 58259014 58259014 single base substitution C A missense_variant G7W 19G>T BRCA-EU 17 58259223 58259223 single base substitution G A downstream_gene_variant BRCA-EU 17 58259223 58259223 single base substitution G A intron_variant BRCA-EU 17 58259223 58259223 single base substitution G A upstream_gene_variant BRCA-EU 17 58260594 58260594 single base substitution C T exon_variant BRCA-EU 17 58260594 58260594 single base substitution C T missense_variant G1022E 3065G>A BRCA-EU 17 58260594 58260594 single base substitution C T missense_variant G1352E 4055G>A BRCA-EU 17 58260594 58260594 single base substitution C T upstream_gene_variant BRCA-EU 17 58261308 58261308 single base substitution C G intron_variant BRCA-EU 17 58261308 58261308 single base substitution C G upstream_gene_variant BRCA-EU 17 58261563 58261563 single base substitution C T intron_variant BRCA-EU 17 58261563 58261563 single base substitution C T upstream_gene_variant BRCA-EU 17 58261634 58261634 single base substitution C T intron_variant BRCA-EU 17 58261634 58261634 single base substitution C T upstream_gene_variant BRCA-EU 17 58261669 58261669 single base substitution C G intron_variant BRCA-EU 17 58261669 58261669 single base substitution C G upstream_gene_variant BRCA-EU 17 58262349 58262349 single base substitution A G intron_variant BRCA-EU 17 58262349 58262349 single base substitution A G upstream_gene_variant BRCA-EU 17 58262440 58262440 single base substitution C T intron_variant BRCA-EU 17 58262440 58262440 single base substitution C T upstream_gene_variant BRCA-EU 17 58263100 58263130 deletion of <=200bp ACCCTTATTTTACTCTATATAAGGAAAAAGA - exon_variant BRCA-EU 17 58263100 58263130 deletion of <=200bp ACCCTTATTTTACTCTATATAAGGAAAAAGA - intron_variant BRCA-EU 17 58263100 58263130 deletion of <=200bp ACCCTTATTTTACTCTATATAAGGAAAAAGA - upstream_gene_variant BRCA-EU 17 58266394 58266394 deletion of <=200bp A - intron_variant BRCA-EU 17 58266394 58266394 deletion of <=200bp A - upstream_gene_variant BRCA-EU 17 58266575 58266575 single base substitution C G intron_variant BRCA-EU 17 58266575 58266575 single base substitution C G upstream_gene_variant BRCA-EU 17 58267225 58267227 deletion of <=200bp TTA - intron_variant BRCA-EU 17 58267225 58267227 deletion of <=200bp TTA - upstream_gene_variant BRCA-EU 17 58268244 58268244 single base substitution C T intron_variant BRCA-EU 17 58268244 58268244 single base substitution C T upstream_gene_variant BRCA-EU 17 58270307 58270307 single base substitution A T intron_variant BRCA-EU 17 58270313 58270314 deletion of <=200bp AG - intron_variant BRCA-EU 17 58271692 58271692 single base substitution A G intron_variant BRCA-EU 17 58271934 58271934 single base substitution C T intron_variant BRCA-EU 17 58271971 58271971 single base substitution C G intron_variant BRCA-EU 17 58272157 58272157 single base substitution C A intron_variant BRCA-EU 17 58273725 58273725 single base substitution C G intron_variant BRCA-EU 17 58275800 58275800 single base substitution C T synonymous_variant R1085R 3255G>A BRCA-EU 17 58275800 58275800 single base substitution C T synonymous_variant R755R 2265G>A BRCA-EU 17 58277782 58277782 single base substitution G T intron_variant BRCA-EU 17 58278129 58278129 single base substitution C G intron_variant BRCA-EU 17 58278533 58278533 single base substitution T C intron_variant BRCA-EU 17 58279855 58279855 single base substitution G T intron_variant BRCA-EU 17 58280747 58280747 single base substitution G C downstream_gene_variant BRCA-EU 17 58280747 58280747 single base substitution G C intron_variant BRCA-EU 17 58281894 58281894 single base substitution A T downstream_gene_variant BRCA-EU 17 58281894 58281894 single base substitution A T intron_variant BRCA-EU 17 58281944 58281944 single base substitution C G downstream_gene_variant BRCA-EU 17 58281944 58281944 single base substitution C G intron_variant BRCA-EU 17 58282210 58282210 single base substitution C G downstream_gene_variant BRCA-EU 17 58282210 58282210 single base substitution C G intron_variant BRCA-EU 17 58282583 58282583 single base substitution C T downstream_gene_variant BRCA-EU 17 58282583 58282583 single base substitution C T intron_variant BRCA-EU 17 58282709 58282709 single base substitution A G downstream_gene_variant BRCA-EU 17 58282709 58282709 single base substitution A G intron_variant BRCA-EU 17 58282785 58282785 single base substitution G A downstream_gene_variant BRCA-EU 17 58282785 58282785 single base substitution G A intron_variant BRCA-EU 17 58283753 58283753 single base substitution A C downstream_gene_variant BRCA-EU 17 58283753 58283753 single base substitution A C intron_variant BRCA-EU 17 58285370 58285370 single base substitution G A downstream_gene_variant BRCA-EU 17 58285370 58285370 single base substitution G A exon_variant BRCA-EU 17 58285370 58285370 single base substitution G A intron_variant BRCA-EU 17 58285490 58285490 single base substitution T A downstream_gene_variant BRCA-EU 17 58285490 58285490 single base substitution T A exon_variant BRCA-EU 17 58285490 58285490 single base substitution T A missense_variant Q622L 1865A>T BRCA-EU 17 58285490 58285490 single base substitution T A missense_variant Q952L 2855A>T BRCA-EU 17 58285766 58285766 single base substitution A T downstream_gene_variant BRCA-EU 17 58285766 58285766 single base substitution A T intron_variant BRCA-EU 17 58285871 58285871 single base substitution C G downstream_gene_variant BRCA-EU 17 58285871 58285871 single base substitution C G intron_variant BRCA-EU 17 58286220 58286220 single base substitution C G downstream_gene_variant BRCA-EU 17 58286220 58286220 single base substitution C G intron_variant BRCA-EU 17 58286220 58286220 single base substitution C G upstream_gene_variant BRCA-EU 17 58287454 58287454 single base substitution T A downstream_gene_variant BRCA-EU 17 58287454 58287454 single base substitution T A intron_variant BRCA-EU 17 58287454 58287454 single base substitution T A upstream_gene_variant BRCA-EU 17 58287702 58287702 single base substitution T G downstream_gene_variant BRCA-EU 17 58287702 58287702 single base substitution T G intron_variant BRCA-EU 17 58287702 58287702 single base substitution T G upstream_gene_variant BRCA-EU 17 58287821 58287821 single base substitution C T downstream_gene_variant BRCA-EU 17 58287821 58287821 single base substitution C T intron_variant BRCA-EU 17 58287821 58287821 single base substitution C T upstream_gene_variant BRCA-EU 17 58289020 58289020 single base substitution G A downstream_gene_variant BRCA-EU 17 58289020 58289020 single base substitution G A intron_variant BRCA-EU 17 58289020 58289020 single base substitution G A upstream_gene_variant BRCA-EU 17 58289329 58289329 deletion of <=200bp A - downstream_gene_variant BRCA-EU 17 58289329 58289329 deletion of <=200bp A - intron_variant BRCA-EU 17 58289329 58289329 deletion of <=200bp A - upstream_gene_variant BRCA-EU 17 58289376 58289376 single base substitution G C downstream_gene_variant BRCA-EU 17 58289376 58289376 single base substitution G C intron_variant BRCA-EU 17 58289376 58289376 single base substitution G C upstream_gene_variant BRCA-EU 17 58289532 58289532 single base substitution T A downstream_gene_variant BRCA-EU 17 58289532 58289532 single base substitution T A intron_variant BRCA-EU 17 58289532 58289532 single base substitution T A upstream_gene_variant BRCA-EU 17 58290080 58290080 single base substitution T G downstream_gene_variant BRCA-EU 17 58290080 58290080 single base substitution T G intron_variant BRCA-EU 17 58290080 58290080 single base substitution T G upstream_gene_variant BRCA-EU 17 58293198 58293198 single base substitution T G downstream_gene_variant BRCA-EU 17 58293198 58293198 single base substitution T G intron_variant BRCA-EU 17 58294195 58294195 single base substitution G A downstream_gene_variant BRCA-EU 17 58294195 58294195 single base substitution G A intron_variant BRCA-EU 17 58295559 58295559 single base substitution C A downstream_gene_variant BRCA-EU 17 58295559 58295559 single base substitution C A intron_variant BRCA-EU 17 58296432 58296432 single base substitution C G downstream_gene_variant BRCA-EU 17 58296432 58296432 single base substitution C G intron_variant BRCA-EU 17 58297141 58297141 single base substitution T A 3_prime_UTR_variant BRCA-EU 17 58297141 58297141 single base substitution T A exon_variant BRCA-EU 17 58297141 58297141 single base substitution T A missense_variant K117M 350A>T BRCA-EU 17 58297141 58297141 single base substitution T A missense_variant K256M 767A>T BRCA-EU 17 58297141 58297141 single base substitution T A missense_variant K583M 1748A>T BRCA-EU 17 58297141 58297141 single base substitution T A missense_variant K586M 1757A>T BRCA-EU 17 58297958 58297958 single base substitution A C intron_variant BRCA-EU 17 58299255 58299255 single base substitution C T downstream_gene_variant BRCA-EU 17 58299255 58299255 single base substitution C T intron_variant BRCA-EU 17 58299616 58299616 single base substitution G A downstream_gene_variant BRCA-EU 17 58299616 58299616 single base substitution G A intron_variant BRCA-EU 17 58299617 58299617 single base substitution G A downstream_gene_variant BRCA-EU 17 58299617 58299617 single base substitution G A intron_variant BRCA-EU 17 58299903 58299903 single base substitution G A downstream_gene_variant BRCA-EU 17 58299903 58299903 single base substitution G A exon_variant BRCA-EU 17 58299903 58299903 single base substitution G A missense_variant S209L 626C>T BRCA-EU 17 58299903 58299903 single base substitution G A missense_variant S536L 1607C>T BRCA-EU 17 58299903 58299903 single base substitution G A missense_variant S539L 1616C>T BRCA-EU 17 58299903 58299903 single base substitution G A missense_variant S70L 209C>T BRCA-EU 17 58300159 58300159 single base substitution C A downstream_gene_variant BRCA-EU 17 58300159 58300159 single base substitution C A intron_variant BRCA-EU 17 58300515 58300515 single base substitution A G downstream_gene_variant BRCA-EU 17 58300515 58300515 single base substitution A G intron_variant BRCA-EU 17 58302230 58302271 deletion of <=200bp GGCCATAGAAATACCACAGCATCTTCCTTGTAGGTGTGGAAA - downstream_gene_variant BRCA-EU 17 58302230 58302271 deletion of <=200bp GGCCATAGAAATACCACAGCATCTTCCTTGTAGGTGTGGAAA - intron_variant BRCA-EU 17 58302251 58302251 single base substitution T C downstream_gene_variant BRCA-EU 17 58302251 58302251 single base substitution T C intron_variant BRCA-EU 17 58302371 58302371 single base substitution G A downstream_gene_variant BRCA-EU 17 58302371 58302371 single base substitution G A intron_variant BRCA-EU 17 58303588 58303588 single base substitution G A exon_variant BRCA-EU 17 58303588 58303588 single base substitution G A missense_variant A119V 356C>T BRCA-EU 17 58303588 58303588 single base substitution G A missense_variant A412V 1235C>T BRCA-EU 17 58303588 58303588 single base substitution G A missense_variant A415V 1244C>T BRCA-EU 17 58303588 58303588 single base substitution G A missense_variant A85V 254C>T BRCA-EU 17 58303588 58303588 single base substitution G A upstream_gene_variant BRCA-EU 17 58304278 58304278 single base substitution T C intron_variant BRCA-EU 17 58304278 58304278 single base substitution T C upstream_gene_variant BRCA-EU 17 58304803 58304803 single base substitution G T intron_variant BRCA-EU 17 58304803 58304803 single base substitution G T upstream_gene_variant BRCA-EU 17 58307109 58307109 single base substitution C T intron_variant BRCA-EU 17 58307109 58307109 single base substitution C T upstream_gene_variant BRCA-EU 17 58308167 58308167 single base substitution C G intron_variant BRCA-EU 17 58308167 58308167 single base substitution C G upstream_gene_variant BRCA-EU 17 58308644 58308644 single base substitution A G intron_variant BRCA-EU 17 58311790 58311790 single base substitution A T intron_variant BRCA-EU 17 58313359 58313359 single base substitution C T intron_variant BRCA-EU 17 58313602 58313602 single base substitution C G splice_acceptor_variant BRCA-EU 17 58315123 58315123 single base substitution T G intron_variant BRCA-EU 17 58316841 58316841 single base substitution C G intron_variant BRCA-EU 17 58317873 58317873 single base substitution G C intron_variant BRCA-EU 17 58318101 58318101 single base substitution G A intron_variant BRCA-EU 17 58318562 58318562 single base substitution G T intron_variant BRCA-EU 17 58318586 58318586 single base substitution C G intron_variant BRCA-EU 17 58318774 58318774 single base substitution A C intron_variant BRCA-EU 17 58318971 58318971 single base substitution C G intron_variant BRCA-EU 17 58321142 58321142 single base substitution T A intron_variant BRCA-EU 17 58322019 58322019 single base substitution A G downstream_gene_variant BRCA-EU 17 58322019 58322019 single base substitution A G intron_variant BRCA-EU 17 58322109 58322109 single base substitution C G downstream_gene_variant BRCA-EU 17 58322109 58322109 single base substitution C G intron_variant BRCA-EU 17 58322497 58322497 single base substitution C A downstream_gene_variant BRCA-EU 17 58322497 58322497 single base substitution C A intron_variant BRCA-EU 17 58322778 58322778 single base substitution T G downstream_gene_variant BRCA-EU 17 58322778 58322778 single base substitution T G intron_variant BRCA-EU 17 58323375 58323375 insertion of <=200bp - T downstream_gene_variant BRCA-EU 17 58323375 58323375 insertion of <=200bp - T intron_variant BRCA-EU 17 58323760 58323760 single base substitution G A downstream_gene_variant BRCA-EU 17 58323760 58323760 single base substitution G A intron_variant BRCA-EU 17 58324304 58324304 single base substitution G A downstream_gene_variant BRCA-EU 17 58324304 58324304 single base substitution G A intron_variant BRCA-EU 17 58325199 58325199 single base substitution C A downstream_gene_variant BRCA-EU 17 58325199 58325199 single base substitution C A intron_variant BRCA-EU 17 58325488 58325488 single base substitution C G downstream_gene_variant BRCA-EU 17 58325488 58325488 single base substitution C G intron_variant BRCA-EU 17 58325799 58325799 single base substitution G C downstream_gene_variant BRCA-EU 17 58325799 58325799 single base substitution G C intron_variant BRCA-EU 17 58325818 58325818 single base substitution C G downstream_gene_variant BRCA-EU 17 58325818 58325818 single base substitution C G intron_variant BRCA-EU 17 58326098 58326098 single base substitution G C downstream_gene_variant BRCA-EU 17 58326098 58326098 single base substitution G C intron_variant BRCA-EU 17 58326161 58326161 single base substitution C T downstream_gene_variant BRCA-EU 17 58326161 58326161 single base substitution C T intron_variant BRCA-EU 17 58326371 58326371 single base substitution C A downstream_gene_variant BRCA-EU 17 58326371 58326371 single base substitution C A intron_variant BRCA-EU 17 58326882 58326882 single base substitution T C 3_prime_UTR_variant BRCA-EU 17 58326882 58326882 single base substitution T C intron_variant BRCA-EU 17 58327382 58327382 single base substitution T A intron_variant BRCA-EU 17 58327475 58327475 single base substitution T A intron_variant BRCA-EU 17 58327762 58327762 single base substitution C T intron_variant BRCA-EU 17 58327786 58327786 single base substitution C G intron_variant BRCA-EU 17 58327882 58327882 single base substitution C T intron_variant BRCA-EU 17 58328246 58328246 single base substitution C G intron_variant BRCA-EU 17 58328305 58328305 single base substitution C G intron_variant BRCA-EU 17 58328703 58328703 single base substitution C A intron_variant BRCA-EU 17 58328953 58328953 single base substitution C G intron_variant BRCA-EU 17 58329023 58329023 single base substitution C A intron_variant BRCA-EU 17 58329064 58329064 single base substitution A T intron_variant BRCA-EU 17 58329092 58329092 single base substitution T A intron_variant BRCA-EU 17 58329501 58329501 single base substitution C T intron_variant BRCA-EU 17 58331585 58331601 deletion of <=200bp AGCGAGGGAATTAGTTT - intron_variant BRCA-EU 17 58332872 58332872 single base substitution G A intron_variant BRCA-EU 17 58334109 58334109 single base substitution G A intron_variant BRCA-EU 17 58334109 58334109 single base substitution G A upstream_gene_variant BRCA-EU 17 58334162 58334162 single base substitution G A intron_variant BRCA-EU 17 58334162 58334162 single base substitution G A upstream_gene_variant BRCA-EU 17 58334342 58334342 single base substitution G A intron_variant BRCA-EU 17 58334342 58334342 single base substitution G A upstream_gene_variant BRCA-EU 17 58334346 58334346 single base substitution G A intron_variant BRCA-EU 17 58334346 58334346 single base substitution G A upstream_gene_variant BRCA-EU 17 58334364 58334364 single base substitution G A intron_variant BRCA-EU 17 58334364 58334364 single base substitution G A upstream_gene_variant BRCA-EU 17 58334408 58334408 single base substitution G A intron_variant BRCA-EU 17 58334408 58334408 single base substitution G A upstream_gene_variant BRCA-EU 17 58334442 58334442 single base substitution G A intron_variant BRCA-EU 17 58334442 58334442 single base substitution G A upstream_gene_variant BRCA-EU 17 58335424 58335424 single base substitution A C intron_variant BRCA-EU 17 58335424 58335424 single base substitution A C upstream_gene_variant BRCA-EU 17 58335529 58335529 single base substitution T G intron_variant BRCA-EU 17 58335529 58335529 single base substitution T G upstream_gene_variant BRCA-EU 17 58335994 58335994 single base substitution C G intron_variant BRCA-EU 17 58335994 58335994 single base substitution C G upstream_gene_variant BRCA-EU 17 58336105 58336105 single base substitution G A intron_variant BRCA-EU 17 58336105 58336105 single base substitution G A upstream_gene_variant BRCA-EU 17 58336738 58336738 single base substitution G A intron_variant BRCA-EU 17 58336738 58336738 single base substitution G A upstream_gene_variant BRCA-EU 17 58337081 58337081 single base substitution A G intron_variant BRCA-EU 17 58337081 58337081 single base substitution A G upstream_gene_variant BRCA-EU 17 58338619 58338619 single base substitution C T intron_variant BRCA-EU 17 58338619 58338619 single base substitution C T upstream_gene_variant BRCA-EU 17 58338797 58338797 single base substitution C G intron_variant BRCA-EU 17 58338797 58338797 single base substitution C G upstream_gene_variant BRCA-EU 17 58339037 58339037 insertion of <=200bp - A intron_variant BRCA-EU 17 58339037 58339037 insertion of <=200bp - A upstream_gene_variant BRCA-EU 17 58339819 58339819 single base substitution C T intron_variant BRCA-EU 17 58340103 58340103 single base substitution T A intron_variant BRCA-EU 17 58340861 58340861 single base substitution C T intron_variant BRCA-EU 17 58340969 58340981 deletion of <=200bp CCTACATACTTAT - intron_variant BRCA-EU 17 58341787 58341787 single base substitution G C intron_variant BRCA-EU 17 58344108 58344108 single base substitution C T intron_variant BRCA-EU 17 58344759 58344759 single base substitution C T intron_variant BRCA-EU 17 58346910 58346926 deletion of <=200bp TAAACAAACCTGTAAAA - intron_variant BRCA-EU 17 58346910 58346926 deletion of <=200bp TAAACAAACCTGTAAAA - splice_acceptor_variant BRCA-EU 17 58347525 58347525 deletion of <=200bp A - intron_variant BRCA-EU 17 58348071 58348071 single base substitution C G intron_variant BRCA-EU 17 58348178 58348178 single base substitution C T intron_variant BRCA-EU 17 58348270 58348270 deletion of <=200bp T - intron_variant BRCA-EU 17 58348987 58348987 single base substitution A T intron_variant BRCA-EU 17 58349731 58349731 single base substitution C T intron_variant BRCA-EU 17 58350730 58350730 single base substitution T C intron_variant BRCA-EU 17 58351277 58351277 single base substitution C T intron_variant BRCA-EU 17 58351448 58351448 single base substitution C G intron_variant BRCA-EU 17 58352249 58352249 single base substitution C G intron_variant BRCA-EU 17 58352451 58352451 single base substitution T G intron_variant BRCA-EU 17 58352742 58352742 single base substitution T C intron_variant BRCA-EU 17 58355015 58355015 single base substitution G C intron_variant BRCA-EU 17 58355193 58355193 single base substitution G C intron_variant BRCA-EU 17 58355464 58355464 single base substitution G C intron_variant BRCA-EU 17 58355684 58355684 single base substitution G C intron_variant BRCA-EU 17 58356399 58356399 single base substitution G A intron_variant BRCA-EU 17 58356505 58356505 single base substitution C T intron_variant BRCA-EU 17 58357469 58357469 insertion of <=200bp - TTG intron_variant BRCA-EU 17 58357654 58357654 single base substitution C T intron_variant BRCA-EU 17 58358574 58358574 single base substitution C T intron_variant BRCA-EU 17 58359739 58359739 single base substitution G A intron_variant BRCA-EU 17 58359905 58359905 single base substitution G C intron_variant BRCA-EU 17 58359906 58359906 single base substitution G A intron_variant BRCA-EU 17 58362161 58362161 single base substitution C T intron_variant BRCA-EU 17 58363533 58363534 deletion of <=200bp AC - intron_variant BRCA-EU 17 58363775 58363775 single base substitution T C intron_variant BRCA-EU 17 58363814 58363814 single base substitution C T intron_variant BRCA-EU 17 58364143 58364143 single base substitution C T intron_variant BRCA-EU 17 58365843 58365843 deletion of <=200bp A - intron_variant BRCA-EU 17 58367437 58367438 deletion of <=200bp AG - downstream_gene_variant BRCA-EU 17 58367437 58367438 deletion of <=200bp AG - intron_variant BRCA-EU 17 58368319 58368319 single base substitution C T downstream_gene_variant BRCA-EU 17 58368319 58368319 single base substitution C T intron_variant BRCA-EU 17 58368825 58368825 single base substitution G A downstream_gene_variant BRCA-EU 17 58368825 58368825 single base substitution G A intron_variant BRCA-EU 17 58368939 58368939 single base substitution C T downstream_gene_variant BRCA-EU 17 58368939 58368939 single base substitution C T intron_variant BRCA-EU 17 58370323 58370323 single base substitution C A downstream_gene_variant BRCA-EU 17 58370323 58370323 single base substitution C A intron_variant BRCA-EU 17 58374377 58374377 single base substitution G A downstream_gene_variant BRCA-EU 17 58374377 58374377 single base substitution G A intron_variant BRCA-EU 17 58375291 58375291 single base substitution C T downstream_gene_variant BRCA-EU 17 58375291 58375291 single base substitution C T intron_variant BRCA-EU 17 58376465 58376465 single base substitution C G downstream_gene_variant BRCA-EU 17 58376465 58376465 single base substitution C G intron_variant BRCA-EU 17 58376895 58376895 single base substitution C G downstream_gene_variant BRCA-EU 17 58376895 58376895 single base substitution C G intron_variant BRCA-EU 17 58377313 58377313 single base substitution C G downstream_gene_variant BRCA-EU 17 58377313 58377313 single base substitution C G intron_variant BRCA-EU 17 58378529 58378529 single base substitution G T downstream_gene_variant BRCA-EU 17 58378529 58378529 single base substitution G T intron_variant BRCA-EU 17 58378928 58378928 single base substitution C T downstream_gene_variant BRCA-EU 17 58378928 58378928 single base substitution C T exon_variant BRCA-EU 17 58378928 58378928 single base substitution C T intron_variant BRCA-EU 17 58379393 58379393 single base substitution A C intron_variant BRCA-EU 17 58379727 58379727 single base substitution C A intron_variant BRCA-EU 17 58380763 58380763 single base substitution G C intron_variant BRCA-EU 17 58381446 58381446 single base substitution C G intron_variant BRCA-EU 17 58381554 58381554 deletion of <=200bp A - intron_variant BRCA-EU 17 58382249 58382249 single base substitution A G intron_variant BRCA-EU 17 58384981 58384981 single base substitution G A intron_variant BRCA-EU 17 58384981 58384981 single base substitution G A upstream_gene_variant BRCA-EU 17 58385563 58385563 single base substitution G A intron_variant BRCA-EU 17 58385563 58385563 single base substitution G A upstream_gene_variant BRCA-EU 17 58385822 58385822 single base substitution C T intron_variant BRCA-EU 17 58385822 58385822 single base substitution C T upstream_gene_variant BRCA-EU 17 58386199 58386199 single base substitution G A intron_variant BRCA-EU 17 58386199 58386199 single base substitution G A upstream_gene_variant BRCA-EU 17 58386223 58386223 single base substitution G C intron_variant BRCA-EU 17 58386223 58386223 single base substitution G C upstream_gene_variant BRCA-EU 17 58386353 58386353 single base substitution G C intron_variant BRCA-EU 17 58386353 58386353 single base substitution G C upstream_gene_variant BRCA-EU 17 58386522 58386522 single base substitution C T intron_variant BRCA-EU 17 58386522 58386522 single base substitution C T upstream_gene_variant BRCA-EU 17 58386767 58386767 single base substitution C T intron_variant BRCA-EU 17 58386767 58386767 single base substitution C T upstream_gene_variant BRCA-EU 17 58387205 58387205 single base substitution G C intron_variant BRCA-EU 17 58387205 58387205 single base substitution G C upstream_gene_variant BRCA-EU 17 58387893 58387893 single base substitution C G intron_variant BRCA-EU 17 58390017 58390017 single base substitution A G intron_variant BRCA-EU 17 58390034 58390034 single base substitution T A intron_variant BRCA-EU 17 58390035 58390035 single base substitution G A intron_variant BRCA-EU 17 58390813 58390813 single base substitution C G intron_variant BRCA-EU 17 58391099 58391099 single base substitution T G intron_variant BRCA-EU 17 58391107 58391107 single base substitution C T intron_variant BRCA-EU 17 58391252 58391252 single base substitution C T intron_variant BRCA-EU 17 58392267 58392267 single base substitution G A intron_variant BRCA-EU 17 58393180 58393180 single base substitution A G intron_variant BRCA-EU 17 58393665 58393665 deletion of <=200bp T - intron_variant BRCA-EU 17 58394231 58394231 single base substitution A C intron_variant BRCA-EU 17 58395447 58395447 single base substitution T C intron_variant BRCA-EU 17 58396291 58396291 single base substitution G A intron_variant BRCA-EU 17 58396332 58396332 single base substitution T A intron_variant BRCA-EU 17 58397849 58397849 single base substitution C G intron_variant BRCA-EU 17 58399170 58399170 single base substitution C T intron_variant BRCA-EU 17 58401328 58401328 single base substitution A G intron_variant BRCA-EU 17 58401549 58401549 single base substitution G A intron_variant BRCA-EU 17 58403125 58403125 insertion of <=200bp - A intron_variant BRCA-EU 17 58403819 58403819 single base substitution C T intron_variant BRCA-EU 17 58404048 58404073 deletion of <=200bp ATGTTTCTTTCTTTTAGATTCCCTTA - intron_variant BRCA-EU 17 58404777 58404777 insertion of <=200bp - G intron_variant BRCA-EU 17 58407012 58407012 single base substitution C G intron_variant BRCA-EU 17 58407993 58407993 single base substitution A G intron_variant BRCA-EU 17 58408263 58408263 single base substitution C G intron_variant BRCA-EU 17 58409420 58409420 single base substitution A G intron_variant BRCA-EU 17 58409785 58409785 single base substitution G C intron_variant BRCA-EU 17 58410010 58410010 deletion of <=200bp A - intron_variant BRCA-EU 17 58410613 58410613 single base substitution C T intron_variant BRCA-EU 17 58410727 58410727 single base substitution A G intron_variant BRCA-EU 17 58411008 58411008 single base substitution G C intron_variant BRCA-EU 17 58411456 58411456 single base substitution G C intron_variant BRCA-EU 17 58411850 58411850 single base substitution T C intron_variant BRCA-EU 17 58413634 58413634 single base substitution C G intron_variant BRCA-EU 17 58413726 58413726 single base substitution T G intron_variant BRCA-EU 17 58413885 58413885 single base substitution G A intron_variant BRCA-EU 17 58414227 58414227 single base substitution A C intron_variant BRCA-EU 17 58414487 58414487 single base substitution T A intron_variant BRCA-EU 17 58416844 58416844 single base substitution T C intron_variant BRCA-EU 17 58417455 58417455 deletion of <=200bp T - intron_variant BRCA-EU 17 58417835 58417835 single base substitution A C intron_variant BRCA-EU 17 58419109 58419109 single base substitution C T intron_variant BRCA-EU 17 58419349 58419349 single base substitution G C intron_variant BRCA-EU 17 58420922 58420922 single base substitution T C intron_variant BRCA-EU 17 58421389 58421389 single base substitution C G intron_variant BRCA-EU 17 58424349 58424349 single base substitution G A intron_variant BRCA-EU 17 58424731 58424731 deletion of <=200bp A - intron_variant BRCA-EU 17 58427698 58427698 single base substitution G C intron_variant BRCA-EU 17 58427834 58427834 single base substitution G T intron_variant BRCA-EU 17 58428901 58428901 single base substitution T A intron_variant BRCA-EU 17 58429304 58429304 deletion of <=200bp A - intron_variant BRCA-EU 17 58429553 58429553 single base substitution G C intron_variant BRCA-EU 17 58430094 58430094 single base substitution G A intron_variant BRCA-EU 17 58430974 58430974 single base substitution C A intron_variant BRCA-EU 17 58431346 58431346 single base substitution G A intron_variant BRCA-EU 17 58431347 58431347 single base substitution A G intron_variant BRCA-EU 17 58431772 58431772 single base substitution G A intron_variant BRCA-EU 17 58433400 58433400 single base substitution G A intron_variant BRCA-EU 17 58436050 58436050 deletion of <=200bp A - intron_variant BRCA-EU 17 58437395 58437395 single base substitution A T intron_variant BRCA-EU 17 58438473 58438473 single base substitution G C intron_variant BRCA-EU 17 58439588 58439588 single base substitution T G intron_variant BRCA-EU 17 58440001 58440001 single base substitution A C intron_variant BRCA-EU 17 58440004 58440004 single base substitution A G intron_variant BRCA-EU 17 58441054 58441054 single base substitution C A intron_variant BRCA-EU 17 58441663 58441663 single base substitution T A intron_variant BRCA-EU 17 58443763 58443763 single base substitution C A intron_variant BRCA-EU 17 58444091 58444091 single base substitution G A intron_variant BRCA-EU 17 58444797 58444797 single base substitution G T intron_variant BRCA-EU 17 58445962 58445962 single base substitution A C intron_variant BRCA-EU 17 58451808 58451808 single base substitution G T intron_variant BRCA-EU 17 58453204 58453204 single base substitution G T intron_variant BRCA-EU 17 58454260 58454260 single base substitution G A intron_variant BRCA-EU 17 58454381 58454381 single base substitution A T intron_variant BRCA-EU 17 58455644 58455644 single base substitution A C intron_variant BRCA-EU 17 58455646 58455646 single base substitution C G intron_variant BRCA-EU 17 58455648 58455648 single base substitution A G intron_variant BRCA-EU 17 58456279 58456279 single base substitution T C intron_variant BRCA-EU 17 58459112 58459112 single base substitution C T intron_variant BRCA-EU 17 58459590 58459590 single base substitution C T intron_variant BRCA-EU 17 58460238 58460238 single base substitution C A intron_variant BRCA-EU 17 58461015 58461015 single base substitution G C intron_variant BRCA-EU 17 58461964 58461964 single base substitution C A intron_variant BRCA-EU 17 58461989 58461989 single base substitution C T intron_variant BRCA-EU 17 58461998 58461998 single base substitution C T intron_variant BRCA-EU 17 58462822 58462822 single base substitution G C intron_variant BRCA-EU 17 58464584 58464584 single base substitution G A intron_variant BRCA-EU 17 58464663 58464663 single base substitution G T intron_variant BRCA-EU 17 58464843 58464843 single base substitution G C intron_variant BRCA-EU 17 58466678 58466678 single base substitution G T intron_variant BRCA-EU 17 58467303 58467303 single base substitution G A intron_variant BRCA-EU 17 58469581 58469581 single base substitution C G 5_prime_UTR_variant BRCA-EU 17 58469581 58469581 single base substitution C G intron_variant BRCA-EU 17 58469581 58469581 single base substitution C G upstream_gene_variant BRCA-EU 17 58472068 58472068 single base substitution T C intron_variant BRCA-EU 17 58472068 58472068 single base substitution T C upstream_gene_variant BRCA-EU 17 58472250 58472250 single base substitution G A intron_variant BRCA-EU 17 58472250 58472250 single base substitution G A upstream_gene_variant BRCA-EU 17 58472354 58472354 single base substitution C T intron_variant BRCA-EU 17 58472354 58472354 single base substitution C T upstream_gene_variant BRCA-EU 17 58473056 58473056 single base substitution A T intron_variant BRCA-EU 17 58473056 58473056 single base substitution A T upstream_gene_variant BRCA-EU 17 58473873 58473873 single base substitution C G intron_variant BRCA-EU 17 58473873 58473873 single base substitution C G upstream_gene_variant BRCA-EU 17 58475771 58475771 deletion of <=200bp A - intron_variant BRCA-EU 17 58476165 58476165 single base substitution C A intron_variant BRCA-EU 17 58476188 58476188 single base substitution T A intron_variant BRCA-EU 17 58478269 58478269 single base substitution A T intron_variant BRCA-EU 17 58478348 58478348 single base substitution A T intron_variant BRCA-EU 17 58479008 58479008 single base substitution G A intron_variant BRCA-EU 17 58479098 58479101 deletion of <=200bp AAAG - intron_variant BRCA-EU 17 58479979 58479979 single base substitution A C intron_variant BRCA-EU 17 58480094 58480094 single base substitution G A intron_variant BRCA-EU 17 58480870 58480870 single base substitution C T intron_variant BRCA-EU 17 58480903 58480903 single base substitution C T intron_variant BRCA-EU 17 58480906 58480906 single base substitution C T intron_variant BRCA-EU 17 58481714 58481714 single base substitution T G intron_variant BRCA-EU 17 58482071 58482071 single base substitution G A intron_variant BRCA-EU 17 58482377 58482377 single base substitution A G intron_variant BRCA-EU 17 58482401 58482401 single base substitution G C intron_variant BRCA-EU 17 58482681 58482681 single base substitution A G intron_variant BRCA-EU 17 58484749 58484749 single base substitution G C intron_variant BRCA-EU 17 58485038 58485038 single base substitution G A intron_variant BRCA-EU 17 58485233 58485233 single base substitution C T intron_variant BRCA-EU 17 58485538 58485538 deletion of <=200bp G - intron_variant BRCA-EU 17 58485607 58485607 single base substitution G A intron_variant BRCA-EU 17 58485694 58485694 single base substitution G T intron_variant BRCA-EU 17 58487206 58487206 single base substitution T G intron_variant BRCA-EU 17 58488329 58488329 single base substitution A G intron_variant BRCA-EU 17 58488910 58488910 single base substitution T G intron_variant BRCA-EU 17 58489664 58489664 single base substitution G C intron_variant BRCA-EU 17 58489758 58489758 single base substitution G A intron_variant BRCA-EU 17 58489840 58489840 single base substitution G A intron_variant BRCA-EU 17 58490309 58490309 single base substitution C T intron_variant BRCA-EU 17 58490593 58490593 single base substitution A G intron_variant BRCA-EU 17 58490921 58490921 single base substitution G A intron_variant BRCA-EU 17 58492611 58492611 single base substitution A G intron_variant BRCA-EU 17 58492727 58492727 single base substitution G C intron_variant BRCA-EU 17 58496347 58496347 single base substitution C T downstream_gene_variant BRCA-EU 17 58496347 58496347 single base substitution C T intron_variant BRCA-EU 17 58496555 58496555 single base substitution C T downstream_gene_variant BRCA-EU 17 58496555 58496555 single base substitution C T intron_variant BRCA-EU 17 58496742 58496742 single base substitution A C downstream_gene_variant BRCA-EU 17 58496742 58496742 single base substitution A C intron_variant BRCA-EU 17 58497263 58497263 single base substitution C G downstream_gene_variant BRCA-EU 17 58497263 58497263 single base substitution C G intron_variant BRCA-EU 17 58498284 58498284 single base substitution C T downstream_gene_variant BRCA-EU 17 58498284 58498284 single base substitution C T intron_variant BRCA-EU 17 58498512 58498512 single base substitution C T downstream_gene_variant BRCA-EU 17 58498512 58498512 single base substitution C T intron_variant BRCA-EU 17 58498748 58498748 single base substitution C G intron_variant BRCA-EU 17 58498748 58498748 single base substitution C G missense_variant A86P 256G>C BRCA-EU 17 58499375 58499375 insertion of <=200bp - ACCCAGC intron_variant BRCA-EU 17 58499962 58499962 single base substitution C T upstream_gene_variant BRCA-EU 17 58500207 58500207 single base substitution G A upstream_gene_variant BRCA-EU 17 58501414 58501414 single base substitution C G upstream_gene_variant BRCA-EU 17 58502011 58502011 single base substitution G A upstream_gene_variant BRCA-EU 17 58504276 58504276 single base substitution C G upstream_gene_variant BRCA-EU 17 58504495 58504495 single base substitution G C upstream_gene_variant BRCA-EU 17 58504642 58504642 single base substitution C G upstream_gene_variant BRCA-FR 17 58261087 58261087 single base substitution C T intron_variant BRCA-FR 17 58261087 58261087 single base substitution C T upstream_gene_variant BRCA-FR 17 58261634 58261634 single base substitution C T intron_variant BRCA-FR 17 58261634 58261634 single base substitution C T upstream_gene_variant BRCA-FR 17 58266575 58266575 single base substitution C G intron_variant BRCA-FR 17 58266575 58266575 single base substitution C G upstream_gene_variant BRCA-FR 17 58271114 58271114 single base substitution G C intron_variant BRCA-FR 17 58271971 58271971 single base substitution C G intron_variant BRCA-FR 17 58275800 58275800 single base substitution C T synonymous_variant R1085R 3255G>A BRCA-FR 17 58275800 58275800 single base substitution C T synonymous_variant R755R 2265G>A BRCA-FR 17 58278129 58278129 single base substitution C G intron_variant BRCA-FR 17 58278606 58278606 single base substitution C T intron_variant BRCA-FR 17 58279208 58279208 single base substitution T C intron_variant BRCA-FR 17 58279540 58279540 single base substitution A T intron_variant BRCA-FR 17 58279734 58279734 single base substitution C T intron_variant BRCA-FR 17 58281868 58281868 single base substitution C T downstream_gene_variant BRCA-FR 17 58281868 58281868 single base substitution C T intron_variant BRCA-FR 17 58281894 58281894 single base substitution A T downstream_gene_variant BRCA-FR 17 58281894 58281894 single base substitution A T intron_variant BRCA-FR 17 58281925 58281925 single base substitution G T downstream_gene_variant BRCA-FR 17 58281925 58281925 single base substitution G T intron_variant BRCA-FR 17 58285370 58285370 single base substitution G A downstream_gene_variant BRCA-FR 17 58285370 58285370 single base substitution G A exon_variant BRCA-FR 17 58285370 58285370 single base substitution G A intron_variant BRCA-FR 17 58299255 58299255 single base substitution C T downstream_gene_variant BRCA-FR 17 58299255 58299255 single base substitution C T intron_variant BRCA-FR 17 58299818 58299818 single base substitution C G 3_prime_UTR_variant BRCA-FR 17 58299818 58299818 single base substitution C G downstream_gene_variant BRCA-FR 17 58299818 58299818 single base substitution C G exon_variant BRCA-FR 17 58299818 58299818 single base substitution C G missense_variant W237C 711G>C BRCA-FR 17 58299818 58299818 single base substitution C G missense_variant W564C 1692G>C BRCA-FR 17 58299818 58299818 single base substitution C G missense_variant W567C 1701G>C BRCA-FR 17 58299818 58299818 single base substitution C G missense_variant W98C 294G>C BRCA-FR 17 58299903 58299903 single base substitution G A downstream_gene_variant BRCA-FR 17 58299903 58299903 single base substitution G A exon_variant BRCA-FR 17 58299903 58299903 single base substitution G A missense_variant S209L 626C>T BRCA-FR 17 58299903 58299903 single base substitution G A missense_variant S536L 1607C>T BRCA-FR 17 58299903 58299903 single base substitution G A missense_variant S539L 1616C>T BRCA-FR 17 58299903 58299903 single base substitution G A missense_variant S70L 209C>T BRCA-FR 17 58300159 58300159 single base substitution C A downstream_gene_variant BRCA-FR 17 58300159 58300159 single base substitution C A intron_variant BRCA-FR 17 58307306 58307306 single base substitution C T intron_variant BRCA-FR 17 58307306 58307306 single base substitution C T upstream_gene_variant BRCA-FR 17 58316841 58316841 single base substitution C G intron_variant BRCA-FR 17 58322177 58322177 single base substitution G C downstream_gene_variant BRCA-FR 17 58322177 58322177 single base substitution G C intron_variant BRCA-FR 17 58325243 58325243 single base substitution C T downstream_gene_variant BRCA-FR 17 58325243 58325243 single base substitution C T intron_variant BRCA-FR 17 58325372 58325372 single base substitution G C downstream_gene_variant BRCA-FR 17 58325372 58325372 single base substitution G C intron_variant BRCA-FR 17 58327762 58327762 single base substitution C T intron_variant BRCA-FR 17 58327786 58327786 single base substitution C G intron_variant BRCA-FR 17 58327882 58327882 single base substitution C T intron_variant BRCA-FR 17 58328246 58328246 single base substitution C G intron_variant BRCA-FR 17 58328703 58328703 single base substitution C A intron_variant BRCA-FR 17 58328765 58328765 single base substitution C G intron_variant BRCA-FR 17 58328943 58328943 single base substitution C T intron_variant BRCA-FR 17 58329064 58329064 single base substitution A T intron_variant BRCA-FR 17 58338619 58338619 single base substitution C T intron_variant BRCA-FR 17 58338619 58338619 single base substitution C T upstream_gene_variant BRCA-FR 17 58339490 58339490 single base substitution G C intron_variant BRCA-FR 17 58339819 58339819 single base substitution C T intron_variant BRCA-FR 17 58351277 58351277 single base substitution C T intron_variant BRCA-FR 17 58352249 58352249 single base substitution C G intron_variant BRCA-FR 17 58355015 58355015 single base substitution G C intron_variant BRCA-FR 17 58355193 58355193 single base substitution G C intron_variant BRCA-FR 17 58355352 58355352 single base substitution C G intron_variant BRCA-FR 17 58355464 58355464 single base substitution G C intron_variant BRCA-FR 17 58355684 58355684 single base substitution G C intron_variant BRCA-FR 17 58357654 58357654 single base substitution C T intron_variant BRCA-FR 17 58358574 58358574 single base substitution C T intron_variant BRCA-FR 17 58364506 58364506 single base substitution G A intron_variant BRCA-FR 17 58370660 58370660 single base substitution G C downstream_gene_variant BRCA-FR 17 58370660 58370660 single base substitution G C intron_variant BRCA-FR 17 58375291 58375291 single base substitution C T downstream_gene_variant BRCA-FR 17 58375291 58375291 single base substitution C T intron_variant BRCA-FR 17 58376465 58376465 single base substitution C G downstream_gene_variant BRCA-FR 17 58376465 58376465 single base substitution C G intron_variant BRCA-FR 17 58385326 58385326 single base substitution G A intron_variant BRCA-FR 17 58385326 58385326 single base substitution G A upstream_gene_variant BRCA-FR 17 58392267 58392267 single base substitution G A intron_variant BRCA-FR 17 58399170 58399170 single base substitution C T intron_variant BRCA-FR 17 58409785 58409785 single base substitution G C intron_variant BRCA-FR 17 58411456 58411456 single base substitution G C intron_variant BRCA-FR 17 58414227 58414227 single base substitution A C intron_variant BRCA-FR 17 58417835 58417835 single base substitution A C intron_variant BRCA-FR 17 58418826 58418826 single base substitution G C intron_variant BRCA-FR 17 58427856 58427856 single base substitution G C intron_variant BRCA-FR 17 58431346 58431346 single base substitution G A intron_variant BRCA-FR 17 58431347 58431347 single base substitution A G intron_variant BRCA-FR 17 58445962 58445962 single base substitution A C intron_variant BRCA-FR 17 58451761 58451761 single base substitution T G intron_variant BRCA-FR 17 58452802 58452802 single base substitution A G intron_variant BRCA-FR 17 58454260 58454260 single base substitution G A intron_variant BRCA-FR 17 58455305 58455305 single base substitution T C intron_variant BRCA-FR 17 58456728 58456728 single base substitution A G intron_variant BRCA-FR 17 58458818 58458818 single base substitution G A intron_variant BRCA-FR 17 58462559 58462559 single base substitution C T intron_variant BRCA-FR 17 58464584 58464584 single base substitution G A intron_variant BRCA-FR 17 58465712 58465712 single base substitution G A intron_variant BRCA-FR 17 58467309 58467309 single base substitution C G intron_variant BRCA-FR 17 58472354 58472354 single base substitution C T intron_variant BRCA-FR 17 58472354 58472354 single base substitution C T upstream_gene_variant BRCA-FR 17 58477577 58477577 single base substitution C T intron_variant BRCA-FR 17 58478269 58478269 single base substitution A T intron_variant BRCA-FR 17 58480094 58480094 single base substitution G A intron_variant BRCA-FR 17 58485694 58485694 single base substitution G T intron_variant BRCA-FR 17 58486102 58486102 single base substitution G C intron_variant BRCA-FR 17 58488329 58488329 single base substitution A G intron_variant BRCA-FR 17 58497263 58497263 single base substitution C G downstream_gene_variant BRCA-FR 17 58497263 58497263 single base substitution C G intron_variant BRCA-FR 17 58498284 58498284 single base substitution C T downstream_gene_variant BRCA-FR 17 58498284 58498284 single base substitution C T intron_variant BRCA-FR 17 58498512 58498512 single base substitution C T downstream_gene_variant BRCA-FR 17 58498512 58498512 single base substitution C T intron_variant BRCA-FR 17 58499014 58499014 single base substitution G A intron_variant BRCA-KR 17 58422959 58422959 single base substitution T C exon_variant BRCA-KR 17 58422959 58422959 single base substitution T C synonymous_variant V20V 60A>G BRCA-KR 17 58422959 58422959 single base substitution T C synonymous_variant V23V 69A>G BRCA-KR 17 58422959 58422959 single base substitution T C synonymous_variant V39V 117A>G BRCA-UK 17 58262922 58262922 single base substitution C T exon_variant BRCA-UK 17 58262922 58262922 single base substitution C T missense_variant E1245K 3733G>A BRCA-UK 17 58262922 58262922 single base substitution C T missense_variant E915K 2743G>A BRCA-UK 17 58262922 58262922 single base substitution C T upstream_gene_variant BRCA-UK 17 58268894 58268894 single base substitution G C intron_variant BRCA-UK 17 58277782 58277782 single base substitution G T intron_variant BRCA-UK 17 58282946 58282946 single base substitution G A downstream_gene_variant BRCA-UK 17 58282946 58282946 single base substitution G A synonymous_variant F1037F 3111C>T BRCA-UK 17 58282946 58282946 single base substitution G A synonymous_variant F707F 2121C>T BRCA-UK 17 58286075 58286075 single base substitution G A downstream_gene_variant BRCA-UK 17 58286075 58286075 single base substitution G A exon_variant BRCA-UK 17 58286075 58286075 single base substitution G A missense_variant P575S 1723C>T BRCA-UK 17 58286075 58286075 single base substitution G A missense_variant P905S 2713C>T BRCA-UK 17 58286076 58286076 single base substitution G C downstream_gene_variant BRCA-UK 17 58286076 58286076 single base substitution G C exon_variant BRCA-UK 17 58286076 58286076 single base substitution G C missense_variant D574E 1722C>G BRCA-UK 17 58286076 58286076 single base substitution G C missense_variant D904E 2712C>G BRCA-UK 17 58322497 58322497 single base substitution C A downstream_gene_variant BRCA-UK 17 58322497 58322497 single base substitution C A intron_variant BRCA-UK 17 58348793 58348793 single base substitution C G intron_variant BRCA-UK 17 58348793 58348793 single base substitution C G missense_variant K204N 612G>C BRCA-UK 17 58348793 58348793 single base substitution C G missense_variant K207N 621G>C BRCA-UK 17 58352451 58352451 single base substitution T G intron_variant BRCA-UK 17 58378928 58378928 single base substitution C T downstream_gene_variant BRCA-UK 17 58378928 58378928 single base substitution C T exon_variant BRCA-UK 17 58378928 58378928 single base substitution C T intron_variant BRCA-UK 17 58391252 58391252 single base substitution C G intron_variant BRCA-UK 17 58407100 58407100 single base substitution C T intron_variant BRCA-UK 17 58416074 58416074 single base substitution G A intron_variant BRCA-UK 17 58422781 58422781 single base substitution G A intron_variant BRCA-UK 17 58427834 58427834 single base substitution G T intron_variant BRCA-UK 17 58429553 58429553 single base substitution G C intron_variant BRCA-UK 17 58447297 58447297 single base substitution C T intron_variant BRCA-UK 17 58457260 58457260 single base substitution G A intron_variant BRCA-UK 17 58457269 58457269 single base substitution A G intron_variant BRCA-UK 17 58460238 58460238 single base substitution C A intron_variant BRCA-US 17 58256660 58256660 single base substitution C T downstream_gene_variant BRCA-US 17 58256660 58256660 single base substitution C T missense_variant E1261K 3781G>A BRCA-US 17 58256660 58256660 single base substitution C T missense_variant E1591K 4771G>A BRCA-US 17 58256660 58256660 single base substitution C T missense_variant E160K 478G>A BRCA-US 17 58258723 58258723 single base substitution T C downstream_gene_variant BRCA-US 17 58258723 58258723 single base substitution T C missense_variant T104A 310A>G BRCA-US 17 58258723 58258723 single base substitution T C missense_variant T1174A 3520A>G BRCA-US 17 58258723 58258723 single base substitution T C missense_variant T1504A 4510A>G BRCA-US 17 58258807 58258807 single base substitution G C downstream_gene_variant BRCA-US 17 58258807 58258807 single base substitution G C missense_variant H1146D 3436C>G BRCA-US 17 58258807 58258807 single base substitution G C missense_variant H1476D 4426C>G BRCA-US 17 58258807 58258807 single base substitution G C missense_variant H76D 226C>G BRCA-US 17 58258980 58258980 deletion of <=200bp T - downstream_gene_variant BRCA-US 17 58258980 58258980 deletion of <=200bp T - frameshift_variant N1088 BRCA-US 17 58258980 58258980 deletion of <=200bp T - frameshift_variant N1418 BRCA-US 17 58258980 58258980 deletion of <=200bp T - frameshift_variant N18 BRCA-US 17 58260550 58260550 single base substitution C T exon_variant BRCA-US 17 58260550 58260550 single base substitution C T missense_variant A1037T 3109G>A BRCA-US 17 58260550 58260550 single base substitution C T missense_variant A1367T 4099G>A BRCA-US 17 58260550 58260550 single base substitution C T upstream_gene_variant BRCA-US 17 58260600 58260600 single base substitution G A exon_variant BRCA-US 17 58260600 58260600 single base substitution G A missense_variant S1020L 3059C>T BRCA-US 17 58260600 58260600 single base substitution G A missense_variant S1350L 4049C>T BRCA-US 17 58260600 58260600 single base substitution G A upstream_gene_variant BRCA-US 17 58260613 58260613 single base substitution C G exon_variant BRCA-US 17 58260613 58260613 single base substitution C G missense_variant D1016H 3046G>C BRCA-US 17 58260613 58260613 single base substitution C G missense_variant D1346H 4036G>C BRCA-US 17 58260613 58260613 single base substitution C G upstream_gene_variant BRCA-US 17 58260771 58260771 single base substitution A G exon_variant BRCA-US 17 58260771 58260771 single base substitution A G missense_variant I1293T 3878T>C BRCA-US 17 58260771 58260771 single base substitution A G missense_variant I963T 2888T>C BRCA-US 17 58260771 58260771 single base substitution A G upstream_gene_variant BRCA-US 17 58275761 58275761 single base substitution G A synonymous_variant P1098P 3294C>T BRCA-US 17 58275761 58275761 single base substitution G A synonymous_variant P768P 2304C>T BRCA-US 17 58275782 58275782 single base substitution C T synonymous_variant L1091L 3273G>A BRCA-US 17 58275782 58275782 single base substitution C T synonymous_variant L761L 2283G>A BRCA-US 17 58286768 58286768 single base substitution T C downstream_gene_variant BRCA-US 17 58286768 58286768 single base substitution T C missense_variant D524G 1571A>G BRCA-US 17 58286768 58286768 single base substitution T C missense_variant D854G 2561A>G BRCA-US 17 58286768 58286768 single base substitution T C upstream_gene_variant BRCA-US 17 58289418 58289418 single base substitution T C downstream_gene_variant BRCA-US 17 58289418 58289418 single base substitution T C missense_variant I386V 1156A>G BRCA-US 17 58289418 58289418 single base substitution T C missense_variant I713V 2137A>G BRCA-US 17 58289418 58289418 single base substitution T C missense_variant I716V 2146A>G BRCA-US 17 58289418 58289418 single base substitution T C upstream_gene_variant BRCA-US 17 58503620 58503620 single base substitution C A upstream_gene_variant BTCA-JP 17 58258756 58258756 single base substitution C T downstream_gene_variant BTCA-JP 17 58258756 58258756 single base substitution C T missense_variant E1163K 3487G>A BTCA-JP 17 58258756 58258756 single base substitution C T missense_variant E1493K 4477G>A BTCA-JP 17 58258756 58258756 single base substitution C T missense_variant E93K 277G>A BTCA-JP 17 58289415 58289415 single base substitution C A downstream_gene_variant BTCA-JP 17 58289415 58289415 single base substitution C A missense_variant A387S 1159G>T BTCA-JP 17 58289415 58289415 single base substitution C A missense_variant A714S 2140G>T BTCA-JP 17 58289415 58289415 single base substitution C A missense_variant A717S 2149G>T BTCA-JP 17 58289415 58289415 single base substitution C A upstream_gene_variant BTCA-JP 17 58299867 58299867 single base substitution G A downstream_gene_variant BTCA-JP 17 58299867 58299867 single base substitution G A exon_variant BTCA-JP 17 58299867 58299867 single base substitution G A missense_variant P221L 662C>T BTCA-JP 17 58299867 58299867 single base substitution G A missense_variant P548L 1643C>T BTCA-JP 17 58299867 58299867 single base substitution G A missense_variant P551L 1652C>T BTCA-JP 17 58299867 58299867 single base substitution G A missense_variant P82L 245C>T BTCA-JP 17 58326971 58326971 single base substitution C T 3_prime_UTR_variant BTCA-JP 17 58326971 58326971 single base substitution C T intron_variant BTCA-JP 17 58327213 58327213 deletion of <=200bp T - intron_variant BTCA-JP 17 58332533 58332533 single base substitution T C intron_variant BTCA-JP 17 58332533 58332533 single base substitution T C splice_region_variant BTCA-JP 17 58332573 58332573 deletion of <=200bp T - frameshift_variant N16 BTCA-JP 17 58332573 58332573 deletion of <=200bp T - frameshift_variant N343 BTCA-JP 17 58332573 58332573 deletion of <=200bp T - frameshift_variant N346 BTCA-JP 17 58332573 58332573 deletion of <=200bp T - intron_variant BTCA-JP 17 58355639 58355639 single base substitution T A intron_variant BTCA-JP 17 58500063 58500063 single base substitution A C upstream_gene_variant CESC-US 17 58260600 58260600 single base substitution G A exon_variant CESC-US 17 58260600 58260600 single base substitution G A missense_variant S1020L 3059C>T CESC-US 17 58260600 58260600 single base substitution G A missense_variant S1350L 4049C>T CESC-US 17 58260600 58260600 single base substitution G A upstream_gene_variant CESC-US 17 58288768 58288768 single base substitution T A downstream_gene_variant CESC-US 17 58288768 58288768 single base substitution T A missense_variant I433F 1297A>T CESC-US 17 58288768 58288768 single base substitution T A missense_variant I760F 2278A>T CESC-US 17 58288768 58288768 single base substitution T A missense_variant I763F 2287A>T CESC-US 17 58288768 58288768 single base substitution T A upstream_gene_variant CESC-US 17 58292072 58292072 single base substitution C A downstream_gene_variant CESC-US 17 58292072 58292072 single base substitution C A missense_variant R189L 566G>T CESC-US 17 58292072 58292072 single base substitution C A missense_variant R314L 941G>T CESC-US 17 58292072 58292072 single base substitution C A missense_variant R641L 1922G>T CESC-US 17 58292072 58292072 single base substitution C A missense_variant R644L 1931G>T CESC-US 17 58303502 58303502 single base substitution C T downstream_gene_variant CESC-US 17 58303502 58303502 single base substitution C T exon_variant CESC-US 17 58303502 58303502 single base substitution C T missense_variant E114K 340G>A CESC-US 17 58303502 58303502 single base substitution C T missense_variant E441K 1321G>A CESC-US 17 58303502 58303502 single base substitution C T missense_variant E444K 1330G>A CESC-US 17 58303502 58303502 single base substitution C T upstream_gene_variant CESC-US 17 58303537 58303537 single base substitution G A downstream_gene_variant CESC-US 17 58303537 58303537 single base substitution G A exon_variant CESC-US 17 58303537 58303537 single base substitution G A missense_variant S102L 305C>T CESC-US 17 58303537 58303537 single base substitution G A missense_variant S429L 1286C>T CESC-US 17 58303537 58303537 single base substitution G A missense_variant S432L 1295C>T CESC-US 17 58303537 58303537 single base substitution G A upstream_gene_variant CLLE-ES 17 58267797 58267797 single base substitution T C intron_variant CLLE-ES 17 58267797 58267797 single base substitution T C upstream_gene_variant CLLE-ES 17 58288232 58288232 single base substitution G T downstream_gene_variant CLLE-ES 17 58288232 58288232 single base substitution G T intron_variant CLLE-ES 17 58288232 58288232 single base substitution G T upstream_gene_variant CLLE-ES 17 58300017 58300017 single base substitution T C downstream_gene_variant CLLE-ES 17 58300017 58300017 single base substitution T C intron_variant CLLE-ES 17 58309118 58309118 single base substitution T C intron_variant CLLE-ES 17 58321032 58321032 single base substitution T C intron_variant CLLE-ES 17 58338126 58338126 single base substitution T C intron_variant CLLE-ES 17 58338126 58338126 single base substitution T C upstream_gene_variant CLLE-ES 17 58356112 58356112 single base substitution A G intron_variant CLLE-ES 17 58391270 58391273 deletion of <=200bp AAGA - intron_variant CLLE-ES 17 58395368 58395368 single base substitution C A intron_variant CLLE-ES 17 58408517 58408517 single base substitution T A intron_variant CLLE-ES 17 58440482 58440482 single base substitution C T intron_variant CLLE-ES 17 58473308 58473308 single base substitution C T intron_variant CLLE-ES 17 58473308 58473308 single base substitution C T upstream_gene_variant CLLE-ES 17 58481690 58481690 single base substitution A T intron_variant CLLE-ES 17 58495848 58495848 single base substitution T A downstream_gene_variant CLLE-ES 17 58495848 58495848 single base substitution T A intron_variant COAD-US 17 58258875 58258875 deletion of <=200bp C - downstream_gene_variant COAD-US 17 58258875 58258875 deletion of <=200bp C - frameshift_variant G1123 COAD-US 17 58258875 58258875 deletion of <=200bp C - frameshift_variant G1453 COAD-US 17 58258875 58258875 deletion of <=200bp C - frameshift_variant G53 COAD-US 17 58259020 58259020 single base substitution T A downstream_gene_variant COAD-US 17 58259020 58259020 single base substitution T A missense_variant S1075C 3223A>T COAD-US 17 58259020 58259020 single base substitution T A missense_variant S1405C 4213A>T COAD-US 17 58259020 58259020 single base substitution T A missense_variant S5C 13A>T COAD-US 17 58275693 58275693 single base substitution G A missense_variant A1121V 3362C>T COAD-US 17 58275693 58275693 single base substitution G A missense_variant A791V 2372C>T COAD-US 17 58299883 58299883 single base substitution G A downstream_gene_variant COAD-US 17 58299883 58299883 single base substitution G A exon_variant COAD-US 17 58299883 58299883 single base substitution G A stop_gained R216* 646C>T COAD-US 17 58299883 58299883 single base substitution G A stop_gained R543* 1627C>T COAD-US 17 58299883 58299883 single base substitution G A stop_gained R546* 1636C>T COAD-US 17 58299883 58299883 single base substitution G A stop_gained R77* 229C>T COAD-US 17 58313499 58313499 single base substitution G A splice_region_variant COAD-US 17 58346903 58346903 single base substitution A C intron_variant COAD-US 17 58346903 58346903 single base substitution A C missense_variant F237C 710T>G COAD-US 17 58346903 58346903 single base substitution A C missense_variant F240C 719T>G COAD-US 17 58348793 58348793 single base substitution C G intron_variant COAD-US 17 58348793 58348793 single base substitution C G missense_variant K204N 612G>C COAD-US 17 58348793 58348793 single base substitution C G missense_variant K207N 621G>C COCA-CN 17 58257723 58257723 single base substitution T G downstream_gene_variant COCA-CN 17 58257723 58257723 single base substitution T G intron_variant COCA-CN 17 58257814 58257814 single base substitution T C downstream_gene_variant COCA-CN 17 58257814 58257814 single base substitution T C intron_variant COCA-CN 17 58258794 58258794 single base substitution C A downstream_gene_variant COCA-CN 17 58258794 58258794 single base substitution C A missense_variant G1150V 3449G>T COCA-CN 17 58258794 58258794 single base substitution C A missense_variant G1480V 4439G>T COCA-CN 17 58258794 58258794 single base substitution C A missense_variant G80V 239G>T COCA-CN 17 58267946 58267946 single base substitution C T missense_variant R1207H 3620G>A COCA-CN 17 58267946 58267946 single base substitution C T missense_variant R877H 2630G>A COCA-CN 17 58267946 58267946 single base substitution C T upstream_gene_variant COCA-CN 17 58284622 58284622 single base substitution A C downstream_gene_variant COCA-CN 17 58284622 58284622 single base substitution A C intron_variant COCA-CN 17 58286209 58286209 single base substitution G T downstream_gene_variant COCA-CN 17 58286209 58286209 single base substitution G T intron_variant COCA-CN 17 58286209 58286209 single base substitution G T upstream_gene_variant COCA-CN 17 58287023 58287023 single base substitution C T downstream_gene_variant COCA-CN 17 58287023 58287023 single base substitution C T intron_variant COCA-CN 17 58287023 58287023 single base substitution C T upstream_gene_variant COCA-CN 17 58288658 58288658 single base substitution G A downstream_gene_variant COCA-CN 17 58288658 58288658 single base substitution G A intron_variant COCA-CN 17 58288658 58288658 single base substitution G A upstream_gene_variant COCA-CN 17 58288924 58288924 single base substitution T C downstream_gene_variant COCA-CN 17 58288924 58288924 single base substitution T C intron_variant COCA-CN 17 58288924 58288924 single base substitution T C upstream_gene_variant COCA-CN 17 58289376 58289376 single base substitution G C downstream_gene_variant COCA-CN 17 58289376 58289376 single base substitution G C intron_variant COCA-CN 17 58289376 58289376 single base substitution G C upstream_gene_variant COCA-CN 17 58289415 58289415 single base substitution C A downstream_gene_variant COCA-CN 17 58289415 58289415 single base substitution C A missense_variant A387S 1159G>T COCA-CN 17 58289415 58289415 single base substitution C A missense_variant A714S 2140G>T COCA-CN 17 58289415 58289415 single base substitution C A missense_variant A717S 2149G>T COCA-CN 17 58289415 58289415 single base substitution C A upstream_gene_variant COCA-CN 17 58289423 58289423 single base substitution G T downstream_gene_variant COCA-CN 17 58289423 58289423 single base substitution G T missense_variant S384Y 1151C>A COCA-CN 17 58289423 58289423 single base substitution G T missense_variant S711Y 2132C>A COCA-CN 17 58289423 58289423 single base substitution G T missense_variant S714Y 2141C>A COCA-CN 17 58289423 58289423 single base substitution G T upstream_gene_variant COCA-CN 17 58289457 58289457 single base substitution G A downstream_gene_variant COCA-CN 17 58289457 58289457 single base substitution G A missense_variant R373C 1117C>T COCA-CN 17 58289457 58289457 single base substitution G A missense_variant R700C 2098C>T COCA-CN 17 58289457 58289457 single base substitution G A missense_variant R703C 2107C>T COCA-CN 17 58289457 58289457 single base substitution G A upstream_gene_variant COCA-CN 17 58289507 58289507 single base substitution T C downstream_gene_variant COCA-CN 17 58289507 58289507 single base substitution T C intron_variant COCA-CN 17 58289507 58289507 single base substitution T C upstream_gene_variant COCA-CN 17 58289532 58289532 single base substitution T A downstream_gene_variant COCA-CN 17 58289532 58289532 single base substitution T A intron_variant COCA-CN 17 58289532 58289532 single base substitution T A upstream_gene_variant COCA-CN 17 58299883 58299883 single base substitution G A downstream_gene_variant COCA-CN 17 58299883 58299883 single base substitution G A exon_variant COCA-CN 17 58299883 58299883 single base substitution G A stop_gained R216* 646C>T COCA-CN 17 58299883 58299883 single base substitution G A stop_gained R543* 1627C>T COCA-CN 17 58299883 58299883 single base substitution G A stop_gained R546* 1636C>T COCA-CN 17 58299883 58299883 single base substitution G A stop_gained R77* 229C>T COCA-CN 17 58327070 58327070 single base substitution A C 3_prime_UTR_variant COCA-CN 17 58327070 58327070 single base substitution A C intron_variant COCA-CN 17 58332659 58332659 single base substitution C T intron_variant COCA-CN 17 58348883 58348883 single base substitution C A intron_variant COCA-CN 17 58355575 58355575 single base substitution A C intron_variant COCA-CN 17 58379014 58379014 single base substitution A C exon_variant COCA-CN 17 58379014 58379014 single base substitution A C intron_variant COCA-CN 17 58379014 58379014 single base substitution A C missense_variant L77V 229T>G COCA-CN 17 58379014 58379014 single base substitution A C missense_variant L80V 238T>G COCA-CN 17 58379014 58379014 single base substitution A C missense_variant L96V 286T>G COCA-CN 17 58469148 58469148 single base substitution C T intron_variant COCA-CN 17 58469422 58469422 single base substitution C T 5_prime_UTR_variant COCA-CN 17 58469422 58469422 single base substitution C T intron_variant COCA-CN 17 58469422 58469422 single base substitution C T upstream_gene_variant COCA-CN 17 58504137 58504137 single base substitution C T upstream_gene_variant EOPC-DE 17 58315464 58315464 single base substitution A G intron_variant EOPC-DE 17 58325964 58325964 single base substitution A C downstream_gene_variant EOPC-DE 17 58325964 58325964 single base substitution A C intron_variant EOPC-DE 17 58380683 58380683 single base substitution A G intron_variant EOPC-DE 17 58443415 58443415 single base substitution C T intron_variant ESAD-UK 17 58255686 58255686 single base substitution C T downstream_gene_variant ESAD-UK 17 58258586 58258586 single base substitution A C downstream_gene_variant ESAD-UK 17 58258586 58258586 single base substitution A C intron_variant ESAD-UK 17 58259244 58259244 single base substitution T C downstream_gene_variant ESAD-UK 17 58259244 58259244 single base substitution T C intron_variant ESAD-UK 17 58259244 58259244 single base substitution T C upstream_gene_variant ESAD-UK 17 58259864 58259864 single base substitution C T downstream_gene_variant ESAD-UK 17 58259864 58259864 single base substitution C T intron_variant ESAD-UK 17 58259864 58259864 single base substitution C T upstream_gene_variant ESAD-UK 17 58261908 58261908 single base substitution G A intron_variant ESAD-UK 17 58261908 58261908 single base substitution G A upstream_gene_variant ESAD-UK 17 58264782 58264782 single base substitution C T intron_variant ESAD-UK 17 58264782 58264782 single base substitution C T upstream_gene_variant ESAD-UK 17 58264811 58264811 single base substitution A C intron_variant ESAD-UK 17 58264811 58264811 single base substitution A C upstream_gene_variant ESAD-UK 17 58266957 58266957 single base substitution T C intron_variant ESAD-UK 17 58266957 58266957 single base substitution T C upstream_gene_variant ESAD-UK 17 58267366 58267366 single base substitution G A intron_variant ESAD-UK 17 58267366 58267366 single base substitution G A upstream_gene_variant ESAD-UK 17 58272217 58272217 single base substitution C T intron_variant ESAD-UK 17 58274162 58274162 single base substitution G A intron_variant ESAD-UK 17 58277475 58277475 single base substitution A T intron_variant ESAD-UK 17 58278376 58278376 single base substitution C T intron_variant ESAD-UK 17 58282138 58282139 deletion of <=200bp TC - downstream_gene_variant ESAD-UK 17 58282138 58282139 deletion of <=200bp TC - intron_variant ESAD-UK 17 58283677 58283677 single base substitution C A downstream_gene_variant ESAD-UK 17 58283677 58283677 single base substitution C A intron_variant ESAD-UK 17 58291243 58291243 single base substitution A T intron_variant ESAD-UK 17 58291503 58291503 single base substitution A C intron_variant ESAD-UK 17 58291798 58291798 single base substitution A C intron_variant ESAD-UK 17 58293971 58293971 deletion of <=200bp A - downstream_gene_variant ESAD-UK 17 58293971 58293971 deletion of <=200bp A - intron_variant ESAD-UK 17 58298067 58298067 single base substitution C T intron_variant ESAD-UK 17 58302318 58302318 single base substitution G A downstream_gene_variant ESAD-UK 17 58302318 58302318 single base substitution G A intron_variant ESAD-UK 17 58303860 58303860 deletion of <=200bp T - intron_variant ESAD-UK 17 58303860 58303860 deletion of <=200bp T - upstream_gene_variant ESAD-UK 17 58305204 58305204 deletion of <=200bp A - intron_variant ESAD-UK 17 58305204 58305204 deletion of <=200bp A - upstream_gene_variant ESAD-UK 17 58305868 58305868 single base substitution T C intron_variant ESAD-UK 17 58305868 58305868 single base substitution T C upstream_gene_variant ESAD-UK 17 58307467 58307467 single base substitution G A intron_variant ESAD-UK 17 58307467 58307467 single base substitution G A upstream_gene_variant ESAD-UK 17 58308470 58308470 deletion of <=200bp A - intron_variant ESAD-UK 17 58308470 58308470 deletion of <=200bp A - upstream_gene_variant ESAD-UK 17 58310328 58310328 single base substitution T C intron_variant ESAD-UK 17 58313076 58313076 single base substitution T C intron_variant ESAD-UK 17 58315721 58315721 single base substitution T G intron_variant ESAD-UK 17 58316746 58316746 single base substitution T G intron_variant ESAD-UK 17 58319857 58319857 single base substitution C T intron_variant ESAD-UK 17 58322032 58322032 single base substitution G A downstream_gene_variant ESAD-UK 17 58322032 58322032 single base substitution G A intron_variant ESAD-UK 17 58325038 58325038 single base substitution G T downstream_gene_variant ESAD-UK 17 58325038 58325038 single base substitution G T intron_variant ESAD-UK 17 58327383 58327383 single base substitution T A intron_variant ESAD-UK 17 58328664 58328664 single base substitution G A intron_variant ESAD-UK 17 58330205 58330205 single base substitution A G intron_variant ESAD-UK 17 58332561 58332561 single base substitution T C intron_variant ESAD-UK 17 58332561 58332561 single base substitution T C missense_variant N20S 59A>G ESAD-UK 17 58332561 58332561 single base substitution T C missense_variant N347S 1040A>G ESAD-UK 17 58332561 58332561 single base substitution T C missense_variant N350S 1049A>G ESAD-UK 17 58332950 58332950 single base substitution T A intron_variant ESAD-UK 17 58333333 58333333 single base substitution A C intron_variant ESAD-UK 17 58335142 58335142 single base substitution G T intron_variant ESAD-UK 17 58335142 58335142 single base substitution G T upstream_gene_variant ESAD-UK 17 58336040 58336040 single base substitution G A intron_variant ESAD-UK 17 58336040 58336040 single base substitution G A upstream_gene_variant ESAD-UK 17 58336958 58336958 single base substitution G A intron_variant ESAD-UK 17 58336958 58336958 single base substitution G A upstream_gene_variant ESAD-UK 17 58338467 58338467 single base substitution A G intron_variant ESAD-UK 17 58338467 58338467 single base substitution A G upstream_gene_variant ESAD-UK 17 58339666 58339666 single base substitution C T intron_variant ESAD-UK 17 58344348 58344348 single base substitution C T intron_variant ESAD-UK 17 58350472 58350472 single base substitution A G intron_variant ESAD-UK 17 58351668 58351668 single base substitution G A intron_variant ESAD-UK 17 58354461 58354461 single base substitution T C intron_variant ESAD-UK 17 58355890 58355890 single base substitution A C intron_variant ESAD-UK 17 58357414 58357414 single base substitution C T intron_variant ESAD-UK 17 58357486 58357486 single base substitution T C intron_variant ESAD-UK 17 58361990 58361990 single base substitution T G intron_variant ESAD-UK 17 58362731 58362731 single base substitution A G intron_variant ESAD-UK 17 58365270 58365270 single base substitution C A intron_variant ESAD-UK 17 58365752 58365752 single base substitution G A intron_variant ESAD-UK 17 58365844 58365844 insertion of <=200bp - TC intron_variant ESAD-UK 17 58366751 58366751 single base substitution G A intron_variant ESAD-UK 17 58368223 58368223 single base substitution C G downstream_gene_variant ESAD-UK 17 58368223 58368223 single base substitution C G intron_variant ESAD-UK 17 58370785 58370785 deletion of <=200bp A - downstream_gene_variant ESAD-UK 17 58370785 58370785 deletion of <=200bp A - intron_variant ESAD-UK 17 58371776 58371776 single base substitution T C downstream_gene_variant ESAD-UK 17 58371776 58371776 single base substitution T C intron_variant ESAD-UK 17 58372125 58372125 single base substitution A T intron_variant ESAD-UK 17 58372125 58372125 single base substitution A T stop_gained Y107* 321T>A ESAD-UK 17 58372125 58372125 single base substitution A T stop_gained Y110* 330T>A ESAD-UK 17 58372125 58372125 single base substitution A T stop_gained Y126* 378T>A ESAD-UK 17 58372897 58372897 insertion of <=200bp - T intron_variant ESAD-UK 17 58379467 58379470 deletion of <=200bp TTTG - intron_variant ESAD-UK 17 58379733 58379733 single base substitution C G intron_variant ESAD-UK 17 58379922 58379922 single base substitution C G intron_variant ESAD-UK 17 58381285 58381285 single base substitution G T intron_variant ESAD-UK 17 58381554 58381554 single base substitution A T intron_variant ESAD-UK 17 58383316 58383316 single base substitution A C intron_variant ESAD-UK 17 58383316 58383316 single base substitution A C upstream_gene_variant ESAD-UK 17 58384139 58384139 single base substitution G C intron_variant ESAD-UK 17 58384139 58384139 single base substitution G C upstream_gene_variant ESAD-UK 17 58386017 58386017 single base substitution G A intron_variant ESAD-UK 17 58386017 58386017 single base substitution G A upstream_gene_variant ESAD-UK 17 58387047 58387047 single base substitution G A intron_variant ESAD-UK 17 58387047 58387047 single base substitution G A upstream_gene_variant ESAD-UK 17 58387353 58387353 single base substitution C T intron_variant ESAD-UK 17 58387353 58387353 single base substitution C T upstream_gene_variant ESAD-UK 17 58388341 58388341 single base substitution T C intron_variant ESAD-UK 17 58390075 58390075 single base substitution G T intron_variant ESAD-UK 17 58394907 58394907 single base substitution A C intron_variant ESAD-UK 17 58394987 58394987 single base substitution G A intron_variant ESAD-UK 17 58396763 58396763 single base substitution T A intron_variant ESAD-UK 17 58397993 58397993 deletion of <=200bp T - intron_variant ESAD-UK 17 58399070 58399070 single base substitution G A intron_variant ESAD-UK 17 58399537 58399537 deletion of <=200bp T - intron_variant ESAD-UK 17 58399947 58399947 single base substitution G A intron_variant ESAD-UK 17 58399989 58399989 deletion of <=200bp A - intron_variant ESAD-UK 17 58400427 58400427 single base substitution G A intron_variant ESAD-UK 17 58401299 58401299 single base substitution T C intron_variant ESAD-UK 17 58406298 58406298 single base substitution C G intron_variant ESAD-UK 17 58406842 58406842 single base substitution T A intron_variant ESAD-UK 17 58409524 58409524 single base substitution C A intron_variant ESAD-UK 17 58412047 58412047 single base substitution C A intron_variant ESAD-UK 17 58413390 58413390 single base substitution G A intron_variant ESAD-UK 17 58415189 58415189 single base substitution C A intron_variant ESAD-UK 17 58416091 58416091 insertion of <=200bp - A intron_variant ESAD-UK 17 58418011 58418011 single base substitution G A intron_variant ESAD-UK 17 58422802 58422802 single base substitution G T intron_variant ESAD-UK 17 58423257 58423257 single base substitution C T intron_variant ESAD-UK 17 58428362 58428362 single base substitution G A intron_variant ESAD-UK 17 58430391 58430391 single base substitution C A intron_variant ESAD-UK 17 58431316 58431316 single base substitution G T intron_variant ESAD-UK 17 58432544 58432544 deletion of <=200bp A - intron_variant ESAD-UK 17 58434707 58434707 single base substitution G A intron_variant ESAD-UK 17 58435507 58435507 deletion of <=200bp T - intron_variant ESAD-UK 17 58436346 58436346 single base substitution G A intron_variant ESAD-UK 17 58437372 58437372 single base substitution G A intron_variant ESAD-UK 17 58437442 58437442 single base substitution G A intron_variant ESAD-UK 17 58439555 58439555 insertion of <=200bp - A intron_variant ESAD-UK 17 58440923 58440923 single base substitution C T intron_variant ESAD-UK 17 58441261 58441261 insertion of <=200bp - G intron_variant ESAD-UK 17 58441615 58441615 single base substitution G T intron_variant ESAD-UK 17 58444189 58444189 deletion of <=200bp T - intron_variant ESAD-UK 17 58444685 58444687 deletion of <=200bp ATA - intron_variant ESAD-UK 17 58446070 58446070 single base substitution C T intron_variant ESAD-UK 17 58449560 58449562 deletion of <=200bp CTC - intron_variant ESAD-UK 17 58458647 58458647 insertion of <=200bp - A intron_variant ESAD-UK 17 58461406 58461406 single base substitution A G intron_variant ESAD-UK 17 58461454 58461454 single base substitution G T intron_variant ESAD-UK 17 58461759 58461759 single base substitution T A intron_variant ESAD-UK 17 58462009 58462009 single base substitution G A intron_variant ESAD-UK 17 58463208 58463208 single base substitution A G intron_variant ESAD-UK 17 58470541 58470541 single base substitution T G intron_variant ESAD-UK 17 58470541 58470541 single base substitution T G upstream_gene_variant ESAD-UK 17 58470628 58470628 single base substitution G A intron_variant ESAD-UK 17 58470628 58470628 single base substitution G A upstream_gene_variant ESAD-UK 17 58471040 58471040 single base substitution G A intron_variant ESAD-UK 17 58471040 58471040 single base substitution G A upstream_gene_variant ESAD-UK 17 58472144 58472144 single base substitution G A intron_variant ESAD-UK 17 58472144 58472144 single base substitution G A upstream_gene_variant ESAD-UK 17 58472950 58472950 single base substitution G A intron_variant ESAD-UK 17 58472950 58472950 single base substitution G A upstream_gene_variant ESAD-UK 17 58473044 58473044 single base substitution A C intron_variant ESAD-UK 17 58473044 58473044 single base substitution A C upstream_gene_variant ESAD-UK 17 58474699 58474699 single base substitution T C intron_variant ESAD-UK 17 58474699 58474699 single base substitution T C upstream_gene_variant ESAD-UK 17 58475036 58475036 single base substitution T A intron_variant ESAD-UK 17 58476099 58476099 single base substitution G A intron_variant ESAD-UK 17 58476668 58476668 insertion of <=200bp - A intron_variant ESAD-UK 17 58476673 58476673 single base substitution A T intron_variant ESAD-UK 17 58476862 58476862 single base substitution T A intron_variant ESAD-UK 17 58477703 58477703 single base substitution C A intron_variant ESAD-UK 17 58478959 58478959 single base substitution C A intron_variant ESAD-UK 17 58479096 58479096 single base substitution A G intron_variant ESAD-UK 17 58480613 58480613 single base substitution G A intron_variant ESAD-UK 17 58481121 58481121 single base substitution C T intron_variant ESAD-UK 17 58483600 58483600 single base substitution G C intron_variant ESAD-UK 17 58484404 58484404 single base substitution C T intron_variant ESAD-UK 17 58484638 58484638 single base substitution T G intron_variant ESAD-UK 17 58488043 58488043 single base substitution G T intron_variant ESAD-UK 17 58488128 58488128 single base substitution G A intron_variant ESAD-UK 17 58488415 58488415 single base substitution C T intron_variant ESAD-UK 17 58488942 58488942 single base substitution C T intron_variant ESAD-UK 17 58489227 58489227 deletion of <=200bp T - intron_variant ESAD-UK 17 58489537 58489537 single base substitution C T intron_variant ESAD-UK 17 58490613 58490613 single base substitution A C intron_variant ESAD-UK 17 58491673 58491673 single base substitution G C intron_variant ESAD-UK 17 58492129 58492129 single base substitution A G intron_variant ESAD-UK 17 58492203 58492203 single base substitution C A intron_variant ESAD-UK 17 58493191 58493191 deletion of <=200bp T - intron_variant ESAD-UK 17 58493448 58493448 single base substitution G A intron_variant ESAD-UK 17 58493859 58493859 deletion of <=200bp A - downstream_gene_variant ESAD-UK 17 58493859 58493859 deletion of <=200bp A - intron_variant ESAD-UK 17 58501321 58501321 single base substitution C T upstream_gene_variant ESAD-UK 17 58502613 58502613 single base substitution G A upstream_gene_variant ESAD-UK 17 58503276 58503276 single base substitution C T upstream_gene_variant ESAD-UK 17 58503897 58503897 single base substitution G A upstream_gene_variant ESCA-CN 17 58300807 58300807 single base substitution C T downstream_gene_variant ESCA-CN 17 58300807 58300807 single base substitution C T exon_variant ESCA-CN 17 58300807 58300807 single base substitution C T intron_variant ESCA-CN 17 58300807 58300807 single base substitution C T missense_variant D195N 583G>A ESCA-CN 17 58300807 58300807 single base substitution C T missense_variant D522N 1564G>A ESCA-CN 17 58300807 58300807 single base substitution C T missense_variant D525N 1573G>A ESCA-CN 17 58300807 58300807 single base substitution C T missense_variant D56N 166G>A GBM-US 17 58258719 58258719 single base substitution C T downstream_gene_variant GBM-US 17 58258719 58258719 single base substitution C T missense_variant R105H 314G>A GBM-US 17 58258719 58258719 single base substitution C T missense_variant R1175H 3524G>A GBM-US 17 58258719 58258719 single base substitution C T missense_variant R1505H 4514G>A KIRC-US 17 58343414 58343414 single base substitution G A intron_variant KIRC-US 17 58343414 58343414 single base substitution G A missense_variant L281F 841C>T KIRC-US 17 58343414 58343414 single base substitution G A missense_variant L284F 850C>T KIRC-US 17 58348760 58348760 single base substitution C T intron_variant KIRC-US 17 58348760 58348760 single base substitution C T synonymous_variant E215E 645G>A KIRC-US 17 58348760 58348760 single base substitution C T synonymous_variant E218E 654G>A KIRP-US 17 58288852 58288852 single base substitution C A downstream_gene_variant KIRP-US 17 58288852 58288852 single base substitution C A missense_variant G405C 1213G>T KIRP-US 17 58288852 58288852 single base substitution C A missense_variant G732C 2194G>T KIRP-US 17 58288852 58288852 single base substitution C A missense_variant G735C 2203G>T KIRP-US 17 58288852 58288852 single base substitution C A upstream_gene_variant KIRP-US 17 58348812 58348812 single base substitution T G intron_variant KIRP-US 17 58348812 58348812 single base substitution T G missense_variant K198T 593A>C KIRP-US 17 58348812 58348812 single base substitution T G missense_variant K201T 602A>C KIRP-US 17 58499974 58499974 insertion of <=200bp - G upstream_gene_variant KIRP-US 17 58503225 58503225 single base substitution G A upstream_gene_variant LAML-KR 17 58258394 58258394 single base substitution C T downstream_gene_variant LAML-KR 17 58258394 58258394 single base substitution C T intron_variant LAML-KR 17 58278077 58278077 single base substitution T A intron_variant LAML-KR 17 58282719 58282719 single base substitution A G downstream_gene_variant LAML-KR 17 58282719 58282719 single base substitution A G intron_variant LAML-KR 17 58286681 58286681 single base substitution G C downstream_gene_variant LAML-KR 17 58286681 58286681 single base substitution G C intron_variant LAML-KR 17 58286681 58286681 single base substitution G C upstream_gene_variant LAML-KR 17 58286977 58286977 single base substitution A C downstream_gene_variant LAML-KR 17 58286977 58286977 single base substitution A C intron_variant LAML-KR 17 58286977 58286977 single base substitution A C upstream_gene_variant LAML-KR 17 58287703 58287703 single base substitution T C downstream_gene_variant LAML-KR 17 58287703 58287703 single base substitution T C intron_variant LAML-KR 17 58287703 58287703 single base substitution T C upstream_gene_variant LAML-KR 17 58287776 58287776 single base substitution G A downstream_gene_variant LAML-KR 17 58287776 58287776 single base substitution G A intron_variant LAML-KR 17 58287776 58287776 single base substitution G A upstream_gene_variant LAML-KR 17 58287783 58287783 single base substitution G A downstream_gene_variant LAML-KR 17 58287783 58287783 single base substitution G A intron_variant LAML-KR 17 58287783 58287783 single base substitution G A upstream_gene_variant LAML-KR 17 58287870 58287870 single base substitution C G downstream_gene_variant LAML-KR 17 58287870 58287870 single base substitution C G intron_variant LAML-KR 17 58287870 58287870 single base substitution C G upstream_gene_variant LAML-KR 17 58288006 58288006 single base substitution C T downstream_gene_variant LAML-KR 17 58288006 58288006 single base substitution C T intron_variant LAML-KR 17 58288006 58288006 single base substitution C T upstream_gene_variant LAML-KR 17 58288284 58288284 single base substitution T C downstream_gene_variant LAML-KR 17 58288284 58288284 single base substitution T C intron_variant LAML-KR 17 58288284 58288284 single base substitution T C upstream_gene_variant LAML-KR 17 58288310 58288310 single base substitution C T downstream_gene_variant LAML-KR 17 58288310 58288310 single base substitution C T intron_variant LAML-KR 17 58288310 58288310 single base substitution C T upstream_gene_variant LAML-KR 17 58288539 58288539 single base substitution C T downstream_gene_variant LAML-KR 17 58288539 58288539 single base substitution C T intron_variant LAML-KR 17 58288539 58288539 single base substitution C T upstream_gene_variant LAML-KR 17 58288540 58288540 single base substitution G A downstream_gene_variant LAML-KR 17 58288540 58288540 single base substitution G A intron_variant LAML-KR 17 58288540 58288540 single base substitution G A upstream_gene_variant LAML-KR 17 58288545 58288545 single base substitution A G downstream_gene_variant LAML-KR 17 58288545 58288545 single base substitution A G intron_variant LAML-KR 17 58288545 58288545 single base substitution A G upstream_gene_variant LAML-KR 17 58288658 58288658 single base substitution G A downstream_gene_variant LAML-KR 17 58288658 58288658 single base substitution G A intron_variant LAML-KR 17 58288658 58288658 single base substitution G A upstream_gene_variant LAML-KR 17 58289415 58289415 single base substitution C A downstream_gene_variant LAML-KR 17 58289415 58289415 single base substitution C A missense_variant A387S 1159G>T LAML-KR 17 58289415 58289415 single base substitution C A missense_variant A714S 2140G>T LAML-KR 17 58289415 58289415 single base substitution C A missense_variant A717S 2149G>T LAML-KR 17 58289415 58289415 single base substitution C A upstream_gene_variant LAML-KR 17 58289507 58289507 single base substitution T C downstream_gene_variant LAML-KR 17 58289507 58289507 single base substitution T C intron_variant LAML-KR 17 58289507 58289507 single base substitution T C upstream_gene_variant LAML-KR 17 58291958 58291958 single base substitution T C downstream_gene_variant LAML-KR 17 58291958 58291958 single base substitution T C intron_variant LAML-KR 17 58308912 58308912 single base substitution C T intron_variant LAML-KR 17 58357724 58357724 single base substitution G A intron_variant LAML-KR 17 58408745 58408745 single base substitution G A intron_variant LAML-KR 17 58408849 58408849 single base substitution C T intron_variant LAML-KR 17 58408862 58408862 single base substitution T C intron_variant LAML-KR 17 58433208 58433208 single base substitution G A intron_variant LAML-KR 17 58443415 58443415 single base substitution C T intron_variant LAML-KR 17 58469348 58469348 single base substitution A C 5_prime_UTR_variant LAML-KR 17 58469348 58469348 single base substitution A C intron_variant LAML-KR 17 58469348 58469348 single base substitution A C upstream_gene_variant LAML-KR 17 58491152 58491152 single base substitution G T intron_variant LGG-US 17 58259033 58259033 single base substitution C T 5_prime_UTR_variant LGG-US 17 58259033 58259033 single base substitution C T downstream_gene_variant LGG-US 17 58259033 58259033 single base substitution C T synonymous_variant R1070R 3210G>A LGG-US 17 58259033 58259033 single base substitution C T synonymous_variant R1400R 4200G>A LGG-US 17 58378974 58378975 deletion of <=200bp TC - exon_variant LGG-US 17 58378974 58378975 deletion of <=200bp TC - frameshift_variant E109 LGG-US 17 58378974 58378975 deletion of <=200bp TC - frameshift_variant E90 LGG-US 17 58378974 58378975 deletion of <=200bp TC - frameshift_variant E93 LGG-US 17 58378974 58378975 deletion of <=200bp TC - intron_variant LICA-CN 17 58365982 58365982 single base substitution G A intron_variant LICA-CN 17 58365982 58365982 single base substitution G A missense_variant T155I 464C>T LICA-CN 17 58365982 58365982 single base substitution G A missense_variant T158I 473C>T LICA-CN 17 58372070 58372070 single base substitution C T intron_variant LICA-CN 17 58372070 58372070 single base substitution C T missense_variant D126N 376G>A LICA-CN 17 58372070 58372070 single base substitution C T missense_variant D129N 385G>A LICA-CN 17 58372070 58372070 single base substitution C T missense_variant D145N 433G>A LICA-FR 17 58252399 58252399 single base substitution A G downstream_gene_variant LICA-FR 17 58269624 58269624 single base substitution C G intron_variant LICA-FR 17 58279371 58279371 single base substitution G C intron_variant LICA-FR 17 58282831 58282831 single base substitution T C downstream_gene_variant LICA-FR 17 58282831 58282831 single base substitution T C missense_variant I1076V 3226A>G LICA-FR 17 58282831 58282831 single base substitution T C missense_variant I746V 2236A>G LICA-FR 17 58287622 58287622 single base substitution G A downstream_gene_variant LICA-FR 17 58287622 58287622 single base substitution G A intron_variant LICA-FR 17 58287622 58287622 single base substitution G A upstream_gene_variant LICA-FR 17 58288006 58288006 single base substitution C T downstream_gene_variant LICA-FR 17 58288006 58288006 single base substitution C T intron_variant LICA-FR 17 58288006 58288006 single base substitution C T upstream_gene_variant LICA-FR 17 58288284 58288284 single base substitution T C downstream_gene_variant LICA-FR 17 58288284 58288284 single base substitution T C intron_variant LICA-FR 17 58288284 58288284 single base substitution T C upstream_gene_variant LICA-FR 17 58290056 58290056 single base substitution T C downstream_gene_variant LICA-FR 17 58290056 58290056 single base substitution T C intron_variant LICA-FR 17 58290056 58290056 single base substitution T C upstream_gene_variant LICA-FR 17 58300152 58300152 single base substitution C A downstream_gene_variant LICA-FR 17 58300152 58300152 single base substitution C A intron_variant LICA-FR 17 58334468 58334488 deletion of <=200bp GTTGGGTTTTTGAGAAAAGCA - intron_variant LICA-FR 17 58334468 58334488 deletion of <=200bp GTTGGGTTTTTGAGAAAAGCA - upstream_gene_variant LICA-FR 17 58340713 58340713 single base substitution T G intron_variant LICA-FR 17 58367973 58367973 single base substitution T C downstream_gene_variant LICA-FR 17 58367973 58367973 single base substitution T C intron_variant LICA-FR 17 58378965 58378965 single base substitution G A exon_variant LICA-FR 17 58378965 58378965 single base substitution G A intron_variant LICA-FR 17 58378965 58378965 single base substitution G A missense_variant A112V 335C>T LICA-FR 17 58378965 58378965 single base substitution G A missense_variant A93V 278C>T LICA-FR 17 58378965 58378965 single base substitution G A missense_variant A96V 287C>T LICA-FR 17 58408538 58408538 single base substitution T A intron_variant LICA-FR 17 58415680 58415680 single base substitution T C intron_variant LICA-FR 17 58421490 58421490 insertion of <=200bp - T intron_variant LICA-FR 17 58455339 58455339 single base substitution C T intron_variant LICA-FR 17 58463201 58463201 single base substitution A C intron_variant LICA-FR 17 58498678 58498678 single base substitution G A 3_prime_UTR_variant LICA-FR 17 58498678 58498678 single base substitution G A intron_variant LICA-FR 17 58499356 58499356 single base substitution C A intron_variant LICA-FR 17 58504746 58504746 single base substitution T C upstream_gene_variant LIHC-US 17 58260585 58260585 single base substitution T A exon_variant LIHC-US 17 58260585 58260585 single base substitution T A missense_variant D1025V 3074A>T LIHC-US 17 58260585 58260585 single base substitution T A missense_variant D1355V 4064A>T LIHC-US 17 58260585 58260585 single base substitution T A upstream_gene_variant LIHC-US 17 58260713 58260713 single base substitution C A exon_variant LIHC-US 17 58260713 58260713 single base substitution C A missense_variant L1312F 3936G>T LIHC-US 17 58260713 58260713 single base substitution C A missense_variant L982F 2946G>T LIHC-US 17 58260713 58260713 single base substitution C A upstream_gene_variant LIHC-US 17 58503178 58503178 single base substitution G A upstream_gene_variant LINC-JP 17 58271102 58271102 single base substitution T C intron_variant LINC-JP 17 58274817 58274817 single base substitution T C intron_variant LINC-JP 17 58289532 58289532 single base substitution T A downstream_gene_variant LINC-JP 17 58289532 58289532 single base substitution T A intron_variant LINC-JP 17 58289532 58289532 single base substitution T A upstream_gene_variant LINC-JP 17 58289533 58289533 insertion of <=200bp - A downstream_gene_variant LINC-JP 17 58289533 58289533 insertion of <=200bp - A intron_variant LINC-JP 17 58289533 58289533 insertion of <=200bp - A upstream_gene_variant LINC-JP 17 58303382 58303382 insertion of <=200bp - GGAATA downstream_gene_variant LINC-JP 17 58303382 58303382 insertion of <=200bp - GGAATA intron_variant LINC-JP 17 58322590 58322590 insertion of <=200bp - T downstream_gene_variant LINC-JP 17 58322590 58322590 insertion of <=200bp - T intron_variant LINC-JP 17 58331226 58331226 single base substitution T G intron_variant LINC-JP 17 58332444 58332444 single base substitution T C intron_variant LINC-JP 17 58340060 58340060 single base substitution T C intron_variant LINC-JP 17 58343345 58343345 single base substitution C T intron_variant LINC-JP 17 58343345 58343345 single base substitution C T missense_variant D304N 910G>A LINC-JP 17 58343345 58343345 single base substitution C T missense_variant D307N 919G>A LINC-JP 17 58347157 58347157 single base substitution T C intron_variant LINC-JP 17 58360064 58360064 single base substitution C T intron_variant LINC-JP 17 58371139 58371139 single base substitution A G downstream_gene_variant LINC-JP 17 58371139 58371139 single base substitution A G intron_variant LINC-JP 17 58372036 58372036 single base substitution A C downstream_gene_variant LINC-JP 17 58372036 58372036 single base substitution A C intron_variant LINC-JP 17 58372036 58372036 single base substitution A C splice_region_variant LINC-JP 17 58379981 58379981 single base substitution T C intron_variant LINC-JP 17 58386370 58386370 single base substitution C A intron_variant LINC-JP 17 58386370 58386370 single base substitution C A upstream_gene_variant LINC-JP 17 58390486 58390486 single base substitution C T intron_variant LINC-JP 17 58424994 58424994 single base substitution G T intron_variant LINC-JP 17 58428152 58428152 single base substitution T C intron_variant LINC-JP 17 58434837 58434837 single base substitution T C intron_variant LINC-JP 17 58468911 58468911 single base substitution G A intron_variant LINC-JP 17 58469123 58469123 single base substitution T C intron_variant LINC-JP 17 58472955 58472955 single base substitution G C intron_variant LINC-JP 17 58472955 58472955 single base substitution G C upstream_gene_variant LINC-JP 17 58495211 58495211 single base substitution C G downstream_gene_variant LINC-JP 17 58495211 58495211 single base substitution C G intron_variant LINC-JP 17 58496786 58496786 single base substitution T C downstream_gene_variant LINC-JP 17 58496786 58496786 single base substitution T C intron_variant LINC-JP 17 58500571 58500571 single base substitution G A upstream_gene_variant LIRI-JP 17 58256730 58256730 single base substitution C T downstream_gene_variant LIRI-JP 17 58256730 58256730 single base substitution C T synonymous_variant Q1237Q 3711G>A LIRI-JP 17 58256730 58256730 single base substitution C T synonymous_variant Q136Q 408G>A LIRI-JP 17 58256730 58256730 single base substitution C T synonymous_variant Q1567Q 4701G>A LIRI-JP 17 58257317 58257317 single base substitution C T downstream_gene_variant LIRI-JP 17 58257317 58257317 single base substitution C T intron_variant LIRI-JP 17 58257540 58257540 single base substitution A G downstream_gene_variant LIRI-JP 17 58257540 58257540 single base substitution A G intron_variant LIRI-JP 17 58260869 58260869 single base substitution T C intron_variant LIRI-JP 17 58260869 58260869 single base substitution T C upstream_gene_variant LIRI-JP 17 58261177 58261177 single base substitution T C intron_variant LIRI-JP 17 58261177 58261177 single base substitution T C upstream_gene_variant LIRI-JP 17 58262634 58262634 single base substitution A G intron_variant LIRI-JP 17 58262634 58262634 single base substitution A G upstream_gene_variant LIRI-JP 17 58263194 58263194 single base substitution G A exon_variant LIRI-JP 17 58263194 58263194 single base substitution G A intron_variant LIRI-JP 17 58263194 58263194 single base substitution G A upstream_gene_variant LIRI-JP 17 58263736 58263736 single base substitution T A intron_variant LIRI-JP 17 58263736 58263736 single base substitution T A upstream_gene_variant LIRI-JP 17 58265593 58265593 deletion of <=200bp C - intron_variant LIRI-JP 17 58265593 58265593 deletion of <=200bp C - upstream_gene_variant LIRI-JP 17 58268381 58268381 single base substitution G C intron_variant LIRI-JP 17 58268707 58268707 single base substitution G A intron_variant LIRI-JP 17 58270255 58270255 single base substitution T C synonymous_variant L1157L 3471A>G LIRI-JP 17 58270255 58270255 single base substitution T C synonymous_variant L827L 2481A>G LIRI-JP 17 58272228 58272228 single base substitution C T intron_variant LIRI-JP 17 58272793 58272793 single base substitution G T intron_variant LIRI-JP 17 58274479 58274479 single base substitution T C intron_variant LIRI-JP 17 58274584 58274584 single base substitution T C intron_variant LIRI-JP 17 58274859 58274859 single base substitution G T intron_variant LIRI-JP 17 58276912 58276912 single base substitution T C intron_variant LIRI-JP 17 58278487 58278487 single base substitution G C intron_variant LIRI-JP 17 58279017 58279017 single base substitution G A intron_variant LIRI-JP 17 58283028 58283028 single base substitution T C downstream_gene_variant LIRI-JP 17 58283028 58283028 single base substitution T C intron_variant LIRI-JP 17 58287894 58287894 single base substitution C A downstream_gene_variant LIRI-JP 17 58287894 58287894 single base substitution C A intron_variant LIRI-JP 17 58287894 58287894 single base substitution C A upstream_gene_variant LIRI-JP 17 58288116 58288116 single base substitution A G downstream_gene_variant LIRI-JP 17 58288116 58288116 single base substitution A G intron_variant LIRI-JP 17 58288116 58288116 single base substitution A G upstream_gene_variant LIRI-JP 17 58288204 58288204 deletion of <=200bp A - downstream_gene_variant LIRI-JP 17 58288204 58288204 deletion of <=200bp A - intron_variant LIRI-JP 17 58288204 58288204 deletion of <=200bp A - upstream_gene_variant LIRI-JP 17 58288601 58288601 single base substitution C T downstream_gene_variant LIRI-JP 17 58288601 58288601 single base substitution C T intron_variant LIRI-JP 17 58288601 58288601 single base substitution C T upstream_gene_variant LIRI-JP 17 58289316 58289316 single base substitution C T downstream_gene_variant LIRI-JP 17 58289316 58289316 single base substitution C T intron_variant LIRI-JP 17 58289316 58289316 single base substitution C T upstream_gene_variant LIRI-JP 17 58289376 58289376 single base substitution G C downstream_gene_variant LIRI-JP 17 58289376 58289376 single base substitution G C intron_variant LIRI-JP 17 58289376 58289376 single base substitution G C upstream_gene_variant LIRI-JP 17 58291456 58291456 single base substitution C T intron_variant LIRI-JP 17 58292842 58292842 single base substitution A T downstream_gene_variant LIRI-JP 17 58292842 58292842 single base substitution A T intron_variant LIRI-JP 17 58293325 58293325 single base substitution T C downstream_gene_variant LIRI-JP 17 58293325 58293325 single base substitution T C intron_variant LIRI-JP 17 58293691 58293691 single base substitution C T downstream_gene_variant LIRI-JP 17 58293691 58293691 single base substitution C T intron_variant LIRI-JP 17 58297958 58297958 single base substitution A C intron_variant LIRI-JP 17 58303820 58303820 single base substitution G A intron_variant LIRI-JP 17 58303820 58303820 single base substitution G A upstream_gene_variant LIRI-JP 17 58304743 58304743 single base substitution G A intron_variant LIRI-JP 17 58304743 58304743 single base substitution G A upstream_gene_variant LIRI-JP 17 58304819 58304819 single base substitution T C intron_variant LIRI-JP 17 58304819 58304819 single base substitution T C upstream_gene_variant LIRI-JP 17 58305438 58305438 single base substitution G T intron_variant LIRI-JP 17 58305438 58305438 single base substitution G T upstream_gene_variant LIRI-JP 17 58308214 58308214 single base substitution T C intron_variant LIRI-JP 17 58308214 58308214 single base substitution T C upstream_gene_variant LIRI-JP 17 58308528 58308529 deletion of <=200bp TA - intron_variant LIRI-JP 17 58308528 58308529 deletion of <=200bp TA - upstream_gene_variant LIRI-JP 17 58309051 58309051 single base substitution T C intron_variant LIRI-JP 17 58314822 58314822 single base substitution T C intron_variant LIRI-JP 17 58315165 58315165 single base substitution T C intron_variant LIRI-JP 17 58321524 58321524 single base substitution G T downstream_gene_variant LIRI-JP 17 58321524 58321524 single base substitution G T intron_variant LIRI-JP 17 58322918 58322918 deletion of <=200bp T - downstream_gene_variant LIRI-JP 17 58322918 58322918 deletion of <=200bp T - intron_variant LIRI-JP 17 58323178 58323178 single base substitution T C downstream_gene_variant LIRI-JP 17 58323178 58323178 single base substitution T C intron_variant LIRI-JP 17 58323326 58323326 single base substitution A G downstream_gene_variant LIRI-JP 17 58323326 58323326 single base substitution A G intron_variant LIRI-JP 17 58323447 58323447 single base substitution T C downstream_gene_variant LIRI-JP 17 58323447 58323447 single base substitution T C intron_variant LIRI-JP 17 58324089 58324089 single base substitution T C downstream_gene_variant LIRI-JP 17 58324089 58324089 single base substitution T C intron_variant LIRI-JP 17 58324425 58324425 single base substitution G T downstream_gene_variant LIRI-JP 17 58324425 58324425 single base substitution G T intron_variant LIRI-JP 17 58325798 58325798 single base substitution T G downstream_gene_variant LIRI-JP 17 58325798 58325798 single base substitution T G intron_variant LIRI-JP 17 58327104 58327104 single base substitution T C intron_variant LIRI-JP 17 58327104 58327104 single base substitution T C missense_variant T383A 1147A>G LIRI-JP 17 58327368 58327368 single base substitution T C intron_variant LIRI-JP 17 58327619 58327619 single base substitution A C intron_variant LIRI-JP 17 58328116 58328116 single base substitution C T intron_variant LIRI-JP 17 58329358 58329358 single base substitution T C intron_variant LIRI-JP 17 58332228 58332228 single base substitution T C intron_variant LIRI-JP 17 58332520 58332520 single base substitution T C intron_variant LIRI-JP 17 58334384 58334384 single base substitution C T intron_variant LIRI-JP 17 58334384 58334384 single base substitution C T upstream_gene_variant LIRI-JP 17 58335710 58335710 single base substitution T C intron_variant LIRI-JP 17 58335710 58335710 single base substitution T C upstream_gene_variant LIRI-JP 17 58336348 58336348 single base substitution T C intron_variant LIRI-JP 17 58336348 58336348 single base substitution T C upstream_gene_variant LIRI-JP 17 58336633 58336633 single base substitution G A intron_variant LIRI-JP 17 58336633 58336633 single base substitution G A upstream_gene_variant LIRI-JP 17 58338036 58338036 single base substitution T C intron_variant LIRI-JP 17 58338036 58338036 single base substitution T C upstream_gene_variant LIRI-JP 17 58338086 58338086 single base substitution G C intron_variant LIRI-JP 17 58338086 58338086 single base substitution G C upstream_gene_variant LIRI-JP 17 58338275 58338275 single base substitution G T intron_variant LIRI-JP 17 58338275 58338275 single base substitution G T upstream_gene_variant LIRI-JP 17 58342729 58342729 single base substitution A G intron_variant LIRI-JP 17 58343421 58343421 single base substitution A G intron_variant LIRI-JP 17 58343421 58343421 single base substitution A G synonymous_variant D278D 834T>C LIRI-JP 17 58343421 58343421 single base substitution A G synonymous_variant D281D 843T>C LIRI-JP 17 58343992 58343992 single base substitution G A intron_variant LIRI-JP 17 58345691 58345691 single base substitution A G intron_variant LIRI-JP 17 58346179 58346179 single base substitution C A intron_variant LIRI-JP 17 58346671 58346671 single base substitution C T intron_variant LIRI-JP 17 58346858 58346858 single base substitution C T intron_variant LIRI-JP 17 58346858 58346858 single base substitution C T missense_variant C252Y 755G>A LIRI-JP 17 58346858 58346858 single base substitution C T missense_variant C255Y 764G>A LIRI-JP 17 58349419 58349419 single base substitution T C intron_variant LIRI-JP 17 58353963 58353963 single base substitution A C intron_variant LIRI-JP 17 58357255 58357255 single base substitution T C intron_variant LIRI-JP 17 58359324 58359324 single base substitution G C intron_variant LIRI-JP 17 58359570 58359570 single base substitution G T intron_variant LIRI-JP 17 58361377 58361377 single base substitution T C intron_variant LIRI-JP 17 58362298 58362298 single base substitution C A intron_variant LIRI-JP 17 58364315 58364315 single base substitution C A intron_variant LIRI-JP 17 58365757 58365757 single base substitution T C intron_variant LIRI-JP 17 58366933 58366933 single base substitution T C intron_variant LIRI-JP 17 58367693 58367693 single base substitution C T downstream_gene_variant LIRI-JP 17 58367693 58367693 single base substitution C T intron_variant LIRI-JP 17 58367907 58367907 single base substitution A C downstream_gene_variant LIRI-JP 17 58367907 58367907 single base substitution A C intron_variant LIRI-JP 17 58368013 58368013 single base substitution T G downstream_gene_variant LIRI-JP 17 58368013 58368013 single base substitution T G intron_variant LIRI-JP 17 58369510 58369510 single base substitution G T downstream_gene_variant LIRI-JP 17 58369510 58369510 single base substitution G T intron_variant LIRI-JP 17 58373475 58373475 single base substitution T C intron_variant LIRI-JP 17 58375809 58375809 single base substitution T A downstream_gene_variant LIRI-JP 17 58375809 58375809 single base substitution T A intron_variant LIRI-JP 17 58377762 58377762 single base substitution T A downstream_gene_variant LIRI-JP 17 58377762 58377762 single base substitution T A intron_variant LIRI-JP 17 58377926 58377926 single base substitution T C downstream_gene_variant LIRI-JP 17 58377926 58377926 single base substitution T C intron_variant LIRI-JP 17 58378807 58378807 single base substitution C T downstream_gene_variant LIRI-JP 17 58378807 58378807 single base substitution C T intron_variant LIRI-JP 17 58379388 58379388 single base substitution T G intron_variant LIRI-JP 17 58381516 58381516 single base substitution A T intron_variant LIRI-JP 17 58382001 58382001 single base substitution C T intron_variant LIRI-JP 17 58383540 58383540 single base substitution T C intron_variant LIRI-JP 17 58383540 58383540 single base substitution T C upstream_gene_variant LIRI-JP 17 58384309 58384309 single base substitution A G intron_variant LIRI-JP 17 58384309 58384309 single base substitution A G upstream_gene_variant LIRI-JP 17 58385954 58385954 single base substitution T C intron_variant LIRI-JP 17 58385954 58385954 single base substitution T C upstream_gene_variant LIRI-JP 17 58389180 58389180 single base substitution C G intron_variant LIRI-JP 17 58394440 58394440 single base substitution T C intron_variant LIRI-JP 17 58396294 58396294 single base substitution A G intron_variant LIRI-JP 17 58396557 58396557 single base substitution G C intron_variant LIRI-JP 17 58397556 58397556 single base substitution T C intron_variant LIRI-JP 17 58400530 58400530 single base substitution T C intron_variant LIRI-JP 17 58400750 58400750 single base substitution T C intron_variant LIRI-JP 17 58403150 58403150 single base substitution A G intron_variant LIRI-JP 17 58403320 58403320 single base substitution T C intron_variant LIRI-JP 17 58403780 58403780 single base substitution T G intron_variant LIRI-JP 17 58406508 58406508 deletion of <=200bp A - intron_variant LIRI-JP 17 58406595 58406595 single base substitution T G intron_variant LIRI-JP 17 58408468 58408468 single base substitution C T intron_variant LIRI-JP 17 58410219 58410219 single base substitution T C intron_variant LIRI-JP 17 58410498 58410498 single base substitution T A intron_variant LIRI-JP 17 58411094 58411094 single base substitution T C intron_variant LIRI-JP 17 58412824 58412824 single base substitution C T intron_variant LIRI-JP 17 58414566 58414566 single base substitution G A intron_variant LIRI-JP 17 58414989 58414989 single base substitution G T intron_variant LIRI-JP 17 58418265 58418265 single base substitution G A intron_variant LIRI-JP 17 58418596 58418596 single base substitution T C intron_variant LIRI-JP 17 58418627 58418627 single base substitution C T intron_variant LIRI-JP 17 58419799 58419799 single base substitution G A intron_variant LIRI-JP 17 58426399 58426399 single base substitution T G intron_variant LIRI-JP 17 58428440 58428440 single base substitution T C intron_variant LIRI-JP 17 58429308 58429308 single base substitution A T intron_variant LIRI-JP 17 58431153 58431153 single base substitution T C intron_variant LIRI-JP 17 58431692 58431692 single base substitution T C intron_variant LIRI-JP 17 58431863 58431863 single base substitution T C intron_variant LIRI-JP 17 58434224 58434224 single base substitution T C intron_variant LIRI-JP 17 58436027 58436027 single base substitution T G intron_variant LIRI-JP 17 58436441 58436441 single base substitution T C intron_variant LIRI-JP 17 58436451 58436451 single base substitution A G intron_variant LIRI-JP 17 58438210 58438210 single base substitution C A intron_variant LIRI-JP 17 58440463 58440463 single base substitution C T intron_variant LIRI-JP 17 58440676 58440676 single base substitution C T intron_variant LIRI-JP 17 58441257 58441257 single base substitution T C intron_variant LIRI-JP 17 58442440 58442440 single base substitution G T intron_variant LIRI-JP 17 58442563 58442563 single base substitution C T intron_variant LIRI-JP 17 58445665 58445665 single base substitution C T intron_variant LIRI-JP 17 58447588 58447590 deletion of <=200bp AAC - intron_variant LIRI-JP 17 58447770 58447770 single base substitution T C intron_variant LIRI-JP 17 58451364 58451364 single base substitution G A intron_variant LIRI-JP 17 58451619 58451619 single base substitution T C intron_variant LIRI-JP 17 58451775 58451775 single base substitution A G intron_variant LIRI-JP 17 58452408 58452408 single base substitution A T intron_variant LIRI-JP 17 58452483 58452483 single base substitution A G intron_variant LIRI-JP 17 58452768 58452768 single base substitution T C intron_variant LIRI-JP 17 58455848 58455848 single base substitution T C intron_variant LIRI-JP 17 58459491 58459491 single base substitution C A intron_variant LIRI-JP 17 58462972 58462972 single base substitution G A intron_variant LIRI-JP 17 58463846 58463846 single base substitution A G intron_variant LIRI-JP 17 58464483 58464483 single base substitution T A intron_variant LIRI-JP 17 58466250 58466250 single base substitution T C intron_variant LIRI-JP 17 58466273 58466273 single base substitution C T intron_variant LIRI-JP 17 58467265 58467265 single base substitution C G intron_variant LIRI-JP 17 58467371 58467371 single base substitution C T intron_variant LIRI-JP 17 58471557 58471557 single base substitution G A intron_variant LIRI-JP 17 58471557 58471557 single base substitution G A upstream_gene_variant LIRI-JP 17 58473022 58473022 single base substitution A T intron_variant LIRI-JP 17 58473022 58473022 single base substitution A T upstream_gene_variant LIRI-JP 17 58475524 58475524 single base substitution G A intron_variant LIRI-JP 17 58476334 58476334 single base substitution T A intron_variant LIRI-JP 17 58476351 58476351 single base substitution A G intron_variant LIRI-JP 17 58476560 58476560 single base substitution G A intron_variant LIRI-JP 17 58481636 58481636 single base substitution G C intron_variant LIRI-JP 17 58485196 58485196 single base substitution C T intron_variant LIRI-JP 17 58486058 58486058 single base substitution A G intron_variant LIRI-JP 17 58490660 58490660 single base substitution G T intron_variant LIRI-JP 17 58490683 58490683 single base substitution A G intron_variant LIRI-JP 17 58491839 58491839 single base substitution G T intron_variant LIRI-JP 17 58492631 58492631 single base substitution T A intron_variant LIRI-JP 17 58497321 58497321 single base substitution A T downstream_gene_variant LIRI-JP 17 58497321 58497321 single base substitution A T intron_variant LIRI-JP 17 58497862 58497862 single base substitution T A downstream_gene_variant LIRI-JP 17 58497862 58497862 single base substitution T A intron_variant LIRI-JP 17 58498137 58498137 single base substitution A G downstream_gene_variant LIRI-JP 17 58498137 58498137 single base substitution A G intron_variant LIRI-JP 17 58499912 58499912 single base substitution G T upstream_gene_variant LIRI-JP 17 58500246 58500246 single base substitution A G upstream_gene_variant LIRI-JP 17 58500260 58500260 single base substitution T C upstream_gene_variant LIRI-JP 17 58501262 58501262 single base substitution G A upstream_gene_variant LIRI-JP 17 58501451 58501451 single base substitution A G upstream_gene_variant LIRI-JP 17 58504719 58504719 single base substitution A G upstream_gene_variant LUSC-KR 17 58254964 58254964 single base substitution G T downstream_gene_variant LUSC-KR 17 58262303 58262303 single base substitution A G intron_variant LUSC-KR 17 58262303 58262303 single base substitution A G upstream_gene_variant LUSC-KR 17 58263012 58263012 single base substitution C T exon_variant LUSC-KR 17 58263012 58263012 single base substitution C T missense_variant V1215I 3643G>A LUSC-KR 17 58263012 58263012 single base substitution C T missense_variant V885I 2653G>A LUSC-KR 17 58263012 58263012 single base substitution C T upstream_gene_variant LUSC-KR 17 58275468 58275468 single base substitution C G intron_variant LUSC-KR 17 58276400 58276400 single base substitution C A intron_variant LUSC-KR 17 58278010 58278010 single base substitution A G intron_variant LUSC-KR 17 58279855 58279855 single base substitution G T intron_variant LUSC-KR 17 58282469 58282469 single base substitution C T downstream_gene_variant LUSC-KR 17 58282469 58282469 single base substitution C T intron_variant LUSC-KR 17 58282719 58282719 single base substitution A G downstream_gene_variant LUSC-KR 17 58282719 58282719 single base substitution A G intron_variant LUSC-KR 17 58282979 58282979 single base substitution T A downstream_gene_variant LUSC-KR 17 58282979 58282979 single base substitution T A synonymous_variant L1026L 3078A>T LUSC-KR 17 58282979 58282979 single base substitution T A synonymous_variant L696L 2088A>T LUSC-KR 17 58282992 58282992 single base substitution T C downstream_gene_variant LUSC-KR 17 58282992 58282992 single base substitution T C missense_variant E1022G 3065A>G LUSC-KR 17 58282992 58282992 single base substitution T C missense_variant E692G 2075A>G LUSC-KR 17 58283212 58283212 single base substitution G A downstream_gene_variant LUSC-KR 17 58283212 58283212 single base substitution G A intron_variant LUSC-KR 17 58286646 58286646 single base substitution G T downstream_gene_variant LUSC-KR 17 58286646 58286646 single base substitution G T intron_variant LUSC-KR 17 58286646 58286646 single base substitution G T upstream_gene_variant LUSC-KR 17 58286681 58286681 single base substitution G C downstream_gene_variant LUSC-KR 17 58286681 58286681 single base substitution G C intron_variant LUSC-KR 17 58286681 58286681 single base substitution G C upstream_gene_variant LUSC-KR 17 58287434 58287434 single base substitution A C downstream_gene_variant LUSC-KR 17 58287434 58287434 single base substitution A C intron_variant LUSC-KR 17 58287434 58287434 single base substitution A C upstream_gene_variant LUSC-KR 17 58287776 58287776 single base substitution G A downstream_gene_variant LUSC-KR 17 58287776 58287776 single base substitution G A intron_variant LUSC-KR 17 58287776 58287776 single base substitution G A upstream_gene_variant LUSC-KR 17 58288006 58288006 single base substitution C T downstream_gene_variant LUSC-KR 17 58288006 58288006 single base substitution C T intron_variant LUSC-KR 17 58288006 58288006 single base substitution C T upstream_gene_variant LUSC-KR 17 58288284 58288284 single base substitution T C downstream_gene_variant LUSC-KR 17 58288284 58288284 single base substitution T C intron_variant LUSC-KR 17 58288284 58288284 single base substitution T C upstream_gene_variant LUSC-KR 17 58288310 58288310 single base substitution C T downstream_gene_variant LUSC-KR 17 58288310 58288310 single base substitution C T intron_variant LUSC-KR 17 58288310 58288310 single base substitution C T upstream_gene_variant LUSC-KR 17 58288540 58288540 single base substitution G A downstream_gene_variant LUSC-KR 17 58288540 58288540 single base substitution G A intron_variant LUSC-KR 17 58288540 58288540 single base substitution G A upstream_gene_variant LUSC-KR 17 58288545 58288545 single base substitution A G downstream_gene_variant LUSC-KR 17 58288545 58288545 single base substitution A G intron_variant LUSC-KR 17 58288545 58288545 single base substitution A G upstream_gene_variant LUSC-KR 17 58288623 58288623 single base substitution A T downstream_gene_variant LUSC-KR 17 58288623 58288623 single base substitution A T intron_variant LUSC-KR 17 58288623 58288623 single base substitution A T upstream_gene_variant LUSC-KR 17 58288658 58288658 single base substitution G A downstream_gene_variant LUSC-KR 17 58288658 58288658 single base substitution G A intron_variant LUSC-KR 17 58288658 58288658 single base substitution G A upstream_gene_variant LUSC-KR 17 58289507 58289507 single base substitution T C downstream_gene_variant LUSC-KR 17 58289507 58289507 single base substitution T C intron_variant LUSC-KR 17 58289507 58289507 single base substitution T C upstream_gene_variant LUSC-KR 17 58291604 58291604 single base substitution C A intron_variant LUSC-KR 17 58292323 58292323 single base substitution T G downstream_gene_variant LUSC-KR 17 58292323 58292323 single base substitution T G intron_variant LUSC-KR 17 58293691 58293691 single base substitution C T downstream_gene_variant LUSC-KR 17 58293691 58293691 single base substitution C T intron_variant LUSC-KR 17 58293855 58293855 single base substitution A C downstream_gene_variant LUSC-KR 17 58293855 58293855 single base substitution A C intron_variant LUSC-KR 17 58295556 58295556 single base substitution T C downstream_gene_variant LUSC-KR 17 58295556 58295556 single base substitution T C intron_variant LUSC-KR 17 58299026 58299026 single base substitution C T downstream_gene_variant LUSC-KR 17 58299026 58299026 single base substitution C T intron_variant LUSC-KR 17 58325368 58325368 single base substitution T C downstream_gene_variant LUSC-KR 17 58325368 58325368 single base substitution T C intron_variant LUSC-KR 17 58325740 58325740 single base substitution C T downstream_gene_variant LUSC-KR 17 58325740 58325740 single base substitution C T intron_variant LUSC-KR 17 58327342 58327342 single base substitution G C intron_variant LUSC-KR 17 58328092 58328092 single base substitution C G intron_variant LUSC-KR 17 58330726 58330726 single base substitution C G intron_variant LUSC-KR 17 58341175 58341175 single base substitution G C intron_variant LUSC-KR 17 58341562 58341562 single base substitution G T intron_variant LUSC-KR 17 58344743 58344743 single base substitution C A intron_variant LUSC-KR 17 58345927 58345927 single base substitution G A intron_variant LUSC-KR 17 58359965 58359965 single base substitution G A intron_variant LUSC-KR 17 58360796 58360796 single base substitution C A intron_variant LUSC-KR 17 58361593 58361593 single base substitution G T intron_variant LUSC-KR 17 58365213 58365213 single base substitution G A intron_variant LUSC-KR 17 58368750 58368750 single base substitution C A downstream_gene_variant LUSC-KR 17 58368750 58368750 single base substitution C A intron_variant LUSC-KR 17 58370045 58370045 single base substitution G A downstream_gene_variant LUSC-KR 17 58370045 58370045 single base substitution G A intron_variant LUSC-KR 17 58372845 58372845 single base substitution A G intron_variant LUSC-KR 17 58376358 58376358 single base substitution T C downstream_gene_variant LUSC-KR 17 58376358 58376358 single base substitution T C intron_variant LUSC-KR 17 58378795 58378795 single base substitution T C downstream_gene_variant LUSC-KR 17 58378795 58378795 single base substitution T C intron_variant LUSC-KR 17 58385661 58385661 single base substitution G A intron_variant LUSC-KR 17 58385661 58385661 single base substitution G A upstream_gene_variant LUSC-KR 17 58386834 58386834 single base substitution G A intron_variant LUSC-KR 17 58386834 58386834 single base substitution G A upstream_gene_variant LUSC-KR 17 58386835 58386835 single base substitution C A intron_variant LUSC-KR 17 58386835 58386835 single base substitution C A upstream_gene_variant LUSC-KR 17 58389419 58389419 single base substitution A G intron_variant LUSC-KR 17 58389571 58389571 single base substitution G A intron_variant LUSC-KR 17 58398846 58398846 single base substitution C G intron_variant LUSC-KR 17 58399771 58399771 single base substitution G C intron_variant LUSC-KR 17 58407869 58407869 single base substitution C G intron_variant LUSC-KR 17 58408862 58408862 single base substitution T C intron_variant LUSC-KR 17 58422041 58422041 single base substitution C A intron_variant LUSC-KR 17 58422185 58422185 single base substitution T A intron_variant LUSC-KR 17 58422875 58422875 single base substitution C A exon_variant LUSC-KR 17 58422875 58422875 single base substitution C A synonymous_variant V48V 144G>T LUSC-KR 17 58422875 58422875 single base substitution C A synonymous_variant V51V 153G>T LUSC-KR 17 58422875 58422875 single base substitution C A synonymous_variant V67V 201G>T LUSC-KR 17 58428063 58428063 single base substitution C A intron_variant LUSC-KR 17 58434067 58434067 single base substitution C T intron_variant LUSC-KR 17 58434402 58434402 single base substitution T A intron_variant LUSC-KR 17 58437746 58437746 single base substitution G A intron_variant LUSC-KR 17 58448733 58448733 single base substitution G T intron_variant LUSC-KR 17 58452673 58452673 single base substitution G C intron_variant LUSC-KR 17 58452826 58452826 single base substitution C A intron_variant LUSC-KR 17 58453811 58453811 single base substitution T A intron_variant LUSC-KR 17 58455218 58455218 single base substitution C G intron_variant LUSC-KR 17 58456361 58456361 single base substitution C A intron_variant LUSC-KR 17 58472303 58472303 single base substitution C A intron_variant LUSC-KR 17 58472303 58472303 single base substitution C A upstream_gene_variant LUSC-KR 17 58478130 58478130 single base substitution C T intron_variant LUSC-KR 17 58479935 58479935 single base substitution C G intron_variant LUSC-KR 17 58484666 58484666 single base substitution C T intron_variant LUSC-KR 17 58488612 58488612 single base substitution G T intron_variant LUSC-KR 17 58493283 58493283 single base substitution C A intron_variant LUSC-KR 17 58495235 58495235 single base substitution C G downstream_gene_variant LUSC-KR 17 58495235 58495235 single base substitution C G intron_variant LUSC-KR 17 58495611 58495611 single base substitution G A downstream_gene_variant LUSC-KR 17 58495611 58495611 single base substitution G A intron_variant LUSC-KR 17 58497551 58497551 single base substitution T C downstream_gene_variant LUSC-KR 17 58497551 58497551 single base substitution T C intron_variant LUSC-KR 17 58503389 58503389 single base substitution A G upstream_gene_variant LUSC-US 17 58256732 58256732 single base substitution G A downstream_gene_variant LUSC-US 17 58256732 58256732 single base substitution G A stop_gained Q1237* 3709C>T LUSC-US 17 58256732 58256732 single base substitution G A stop_gained Q136* 406C>T LUSC-US 17 58256732 58256732 single base substitution G A stop_gained Q1567* 4699C>T LUSC-US 17 58257998 58257998 single base substitution A G downstream_gene_variant LUSC-US 17 58257998 58257998 single base substitution A G intron_variant LUSC-US 17 58257998 58257998 single base substitution A G missense_variant C1187R 3559T>C LUSC-US 17 58257998 58257998 single base substitution A G missense_variant C1517R 4549T>C LUSC-US 17 58260692 58260692 single base substitution G C exon_variant LUSC-US 17 58260692 58260692 single base substitution G C synonymous_variant L1319L 3957C>G LUSC-US 17 58260692 58260692 single base substitution G C synonymous_variant L989L 2967C>G LUSC-US 17 58260692 58260692 single base substitution G C upstream_gene_variant LUSC-US 17 58260814 58260814 single base substitution T C missense_variant I1279V 3835A>G LUSC-US 17 58260814 58260814 single base substitution T C missense_variant I949V 2845A>G LUSC-US 17 58260814 58260814 single base substitution T C splice_region_variant LUSC-US 17 58260814 58260814 single base substitution T C upstream_gene_variant LUSC-US 17 58262956 58262956 single base substitution G C exon_variant LUSC-US 17 58262956 58262956 single base substitution G C missense_variant I1233M 3699C>G LUSC-US 17 58262956 58262956 single base substitution G C missense_variant I903M 2709C>G LUSC-US 17 58262956 58262956 single base substitution G C upstream_gene_variant LUSC-US 17 58332618 58332618 single base substitution A T intron_variant LUSC-US 17 58332618 58332618 single base substitution A T missense_variant M328K 983T>A LUSC-US 17 58332618 58332618 single base substitution A T missense_variant M331K 992T>A LUSC-US 17 58332618 58332618 single base substitution A T start_lost M1K 2T>A MALY-DE 17 58258601 58258601 deletion of <=200bp A - downstream_gene_variant MALY-DE 17 58258601 58258601 deletion of <=200bp A - intron_variant MALY-DE 17 58258974 58258974 insertion of <=200bp - AGTTTA disruptive_inframe_insertion L1090LKL MALY-DE 17 58258974 58258974 insertion of <=200bp - AGTTTA disruptive_inframe_insertion L1420LKL MALY-DE 17 58258974 58258974 insertion of <=200bp - AGTTTA disruptive_inframe_insertion L20LKL MALY-DE 17 58258974 58258974 insertion of <=200bp - AGTTTA downstream_gene_variant MALY-DE 17 58280857 58280857 single base substitution A T downstream_gene_variant MALY-DE 17 58280857 58280857 single base substitution A T intron_variant MALY-DE 17 58289533 58289533 insertion of <=200bp - A downstream_gene_variant MALY-DE 17 58289533 58289533 insertion of <=200bp - A intron_variant MALY-DE 17 58289533 58289533 insertion of <=200bp - A upstream_gene_variant MALY-DE 17 58307529 58307529 single base substitution A G intron_variant MALY-DE 17 58307529 58307529 single base substitution A G upstream_gene_variant MALY-DE 17 58309517 58309517 single base substitution A T intron_variant MALY-DE 17 58311465 58311465 single base substitution C G intron_variant MALY-DE 17 58323776 58323776 single base substitution T A downstream_gene_variant MALY-DE 17 58323776 58323776 single base substitution T A intron_variant MALY-DE 17 58334649 58334649 single base substitution G A intron_variant MALY-DE 17 58334649 58334649 single base substitution G A upstream_gene_variant MALY-DE 17 58354308 58354308 insertion of <=200bp - AT intron_variant MALY-DE 17 58356914 58356914 single base substitution A T intron_variant MALY-DE 17 58359570 58359570 single base substitution G T intron_variant MALY-DE 17 58363694 58363694 single base substitution T G intron_variant MALY-DE 17 58368899 58368900 deletion of <=200bp TG - downstream_gene_variant MALY-DE 17 58368899 58368900 deletion of <=200bp TG - intron_variant MALY-DE 17 58371745 58371746 deletion of <=200bp GT - downstream_gene_variant MALY-DE 17 58371745 58371746 deletion of <=200bp GT - intron_variant MALY-DE 17 58380962 58380962 single base substitution G A intron_variant MALY-DE 17 58384288 58384288 single base substitution G A intron_variant MALY-DE 17 58384288 58384288 single base substitution G A upstream_gene_variant MALY-DE 17 58392880 58392880 single base substitution A C intron_variant MALY-DE 17 58401645 58401646 deletion of <=200bp AT - intron_variant MALY-DE 17 58409801 58409801 single base substitution G A intron_variant MALY-DE 17 58419367 58419367 single base substitution C T intron_variant MALY-DE 17 58437052 58437052 single base substitution T C intron_variant MALY-DE 17 58437718 58437718 single base substitution T G intron_variant MALY-DE 17 58449811 58449811 single base substitution G T intron_variant MALY-DE 17 58456455 58456455 single base substitution G A intron_variant MALY-DE 17 58463380 58463381 deletion of <=200bp AC - intron_variant MALY-DE 17 58464023 58464023 single base substitution A T intron_variant MALY-DE 17 58465651 58465652 deletion of <=200bp AC - intron_variant MALY-DE 17 58467572 58467572 single base substitution T C intron_variant MALY-DE 17 58470025 58470025 single base substitution C T intron_variant MALY-DE 17 58470025 58470025 single base substitution C T upstream_gene_variant MALY-DE 17 58471195 58471195 single base substitution G A intron_variant MALY-DE 17 58471195 58471195 single base substitution G A upstream_gene_variant MALY-DE 17 58498188 58498203 deletion of <=200bp AAATATATATGTACAA - downstream_gene_variant MALY-DE 17 58498188 58498203 deletion of <=200bp AAATATATATGTACAA - intron_variant MALY-DE 17 58498210 58498210 insertion of <=200bp - A downstream_gene_variant MALY-DE 17 58498210 58498210 insertion of <=200bp - A intron_variant MELA-AU 17 58251718 58251718 single base substitution G A downstream_gene_variant MELA-AU 17 58252436 58252436 single base substitution G A downstream_gene_variant MELA-AU 17 58252951 58252951 single base substitution A G downstream_gene_variant MELA-AU 17 58253413 58253413 single base substitution G A downstream_gene_variant MELA-AU 17 58253937 58253937 single base substitution G A downstream_gene_variant MELA-AU 17 58254149 58254149 single base substitution G A downstream_gene_variant MELA-AU 17 58254213 58254213 single base substitution C T downstream_gene_variant MELA-AU 17 58254496 58254496 single base substitution G A downstream_gene_variant MELA-AU 17 58254511 58254511 single base substitution G A downstream_gene_variant MELA-AU 17 58254953 58254953 single base substitution T A downstream_gene_variant MELA-AU 17 58255541 58255541 single base substitution G A downstream_gene_variant MELA-AU 17 58255792 58255792 single base substitution G T downstream_gene_variant MELA-AU 17 58255796 58255796 single base substitution G A downstream_gene_variant MELA-AU 17 58255996 58255996 single base substitution A G downstream_gene_variant MELA-AU 17 58256165 58256165 single base substitution G A downstream_gene_variant MELA-AU 17 58256187 58256187 single base substitution G C downstream_gene_variant MELA-AU 17 58256868 58256868 single base substitution A G downstream_gene_variant MELA-AU 17 58256868 58256868 single base substitution A G intron_variant MELA-AU 17 58258720 58258720 single base substitution G T downstream_gene_variant MELA-AU 17 58258720 58258720 single base substitution G T missense_variant R105S 313C>A MELA-AU 17 58258720 58258720 single base substitution G T missense_variant R1175S 3523C>A MELA-AU 17 58258720 58258720 single base substitution G T missense_variant R1505S 4513C>A MELA-AU 17 58258763 58258763 single base substitution G C downstream_gene_variant MELA-AU 17 58258763 58258763 single base substitution G C missense_variant N1160K 3480C>G MELA-AU 17 58258763 58258763 single base substitution G C missense_variant N1490K 4470C>G MELA-AU 17 58258763 58258763 single base substitution G C missense_variant N90K 270C>G MELA-AU 17 58259034 58259034 single base substitution C T 5_prime_UTR_variant MELA-AU 17 58259034 58259034 single base substitution C T downstream_gene_variant MELA-AU 17 58259034 58259034 single base substitution C T missense_variant R1070Q 3209G>A MELA-AU 17 58259034 58259034 single base substitution C T missense_variant R1400Q 4199G>A MELA-AU 17 58260212 58260212 single base substitution T A downstream_gene_variant MELA-AU 17 58260212 58260212 single base substitution T A intron_variant MELA-AU 17 58260212 58260212 single base substitution T A upstream_gene_variant MELA-AU 17 58260919 58260919 single base substitution A C intron_variant MELA-AU 17 58260919 58260919 single base substitution A C upstream_gene_variant MELA-AU 17 58261225 58261225 single base substitution T C intron_variant MELA-AU 17 58261225 58261225 single base substitution T C upstream_gene_variant MELA-AU 17 58261370 58261370 single base substitution G A intron_variant MELA-AU 17 58261370 58261370 single base substitution G A upstream_gene_variant MELA-AU 17 58261371 58261371 single base substitution G A intron_variant MELA-AU 17 58261371 58261371 single base substitution G A upstream_gene_variant MELA-AU 17 58261804 58261804 single base substitution T A intron_variant MELA-AU 17 58261804 58261804 single base substitution T A upstream_gene_variant MELA-AU 17 58262415 58262415 single base substitution G A intron_variant MELA-AU 17 58262415 58262415 single base substitution G A upstream_gene_variant MELA-AU 17 58262668 58262668 single base substitution C T intron_variant MELA-AU 17 58262668 58262668 single base substitution C T upstream_gene_variant MELA-AU 17 58263877 58263877 single base substitution T A intron_variant MELA-AU 17 58263877 58263877 single base substitution T A upstream_gene_variant MELA-AU 17 58264098 58264098 single base substitution G A intron_variant MELA-AU 17 58264098 58264098 single base substitution G A upstream_gene_variant MELA-AU 17 58264577 58264577 single base substitution C G intron_variant MELA-AU 17 58264577 58264577 single base substitution C G upstream_gene_variant MELA-AU 17 58264665 58264665 single base substitution T C intron_variant MELA-AU 17 58264665 58264665 single base substitution T C upstream_gene_variant MELA-AU 17 58264886 58264886 single base substitution G A intron_variant MELA-AU 17 58264886 58264886 single base substitution G A upstream_gene_variant MELA-AU 17 58265390 58265390 single base substitution G A intron_variant MELA-AU 17 58265390 58265390 single base substitution G A upstream_gene_variant MELA-AU 17 58265448 58265448 single base substitution C T intron_variant MELA-AU 17 58265448 58265448 single base substitution C T upstream_gene_variant MELA-AU 17 58266101 58266101 single base substitution G A intron_variant MELA-AU 17 58266101 58266101 single base substitution G A upstream_gene_variant MELA-AU 17 58266133 58266134 multiple base substitution (>=2bp and <=200bp) GG AA intron_variant MELA-AU 17 58266133 58266134 multiple base substitution (>=2bp and <=200bp) GG AA upstream_gene_variant MELA-AU 17 58266234 58266234 single base substitution G A intron_variant MELA-AU 17 58266234 58266234 single base substitution G A upstream_gene_variant MELA-AU 17 58266406 58266406 single base substitution A C intron_variant MELA-AU 17 58266406 58266406 single base substitution A C upstream_gene_variant MELA-AU 17 58266784 58266784 single base substitution G A intron_variant MELA-AU 17 58266784 58266784 single base substitution G A upstream_gene_variant MELA-AU 17 58267104 58267104 single base substitution C T intron_variant MELA-AU 17 58267104 58267104 single base substitution C T upstream_gene_variant MELA-AU 17 58267213 58267213 single base substitution A C intron_variant MELA-AU 17 58267213 58267213 single base substitution A C upstream_gene_variant MELA-AU 17 58267644 58267644 single base substitution A G intron_variant MELA-AU 17 58267644 58267644 single base substitution A G upstream_gene_variant MELA-AU 17 58268072 58268072 single base substitution G A intron_variant MELA-AU 17 58268072 58268072 single base substitution G A upstream_gene_variant MELA-AU 17 58269006 58269006 single base substitution G A intron_variant MELA-AU 17 58269578 58269578 single base substitution G A intron_variant MELA-AU 17 58269784 58269784 single base substitution G A intron_variant MELA-AU 17 58269820 58269820 single base substitution G A intron_variant MELA-AU 17 58269859 58269859 single base substitution G A intron_variant MELA-AU 17 58270132 58270132 single base substitution G A intron_variant MELA-AU 17 58270536 58270536 single base substitution G A intron_variant MELA-AU 17 58270955 58270955 single base substitution A G intron_variant MELA-AU 17 58270960 58270960 single base substitution G A intron_variant MELA-AU 17 58271007 58271007 single base substitution G A intron_variant MELA-AU 17 58271329 58271329 single base substitution G A intron_variant MELA-AU 17 58272499 58272499 single base substitution G A intron_variant MELA-AU 17 58273712 58273712 single base substitution G A intron_variant MELA-AU 17 58274621 58274621 single base substitution T C intron_variant MELA-AU 17 58274971 58274971 single base substitution G A intron_variant MELA-AU 17 58275100 58275100 single base substitution G A intron_variant MELA-AU 17 58275320 58275320 single base substitution T C intron_variant MELA-AU 17 58275967 58275967 single base substitution G A intron_variant MELA-AU 17 58276374 58276374 single base substitution G A intron_variant MELA-AU 17 58276548 58276548 single base substitution G A intron_variant MELA-AU 17 58277646 58277646 single base substitution G A intron_variant MELA-AU 17 58277720 58277720 single base substitution C T intron_variant MELA-AU 17 58277730 58277730 single base substitution T C intron_variant MELA-AU 17 58278077 58278077 single base substitution T A intron_variant MELA-AU 17 58278460 58278460 single base substitution C T intron_variant MELA-AU 17 58278711 58278711 single base substitution G A intron_variant MELA-AU 17 58279001 58279001 single base substitution G A intron_variant MELA-AU 17 58279013 58279013 single base substitution C T intron_variant MELA-AU 17 58279044 58279044 single base substitution G A intron_variant MELA-AU 17 58279083 58279083 single base substitution G A intron_variant MELA-AU 17 58280646 58280646 single base substitution C T downstream_gene_variant MELA-AU 17 58280646 58280646 single base substitution C T intron_variant MELA-AU 17 58280766 58280766 single base substitution A T downstream_gene_variant MELA-AU 17 58280766 58280766 single base substitution A T intron_variant MELA-AU 17 58281001 58281001 single base substitution G A downstream_gene_variant MELA-AU 17 58281001 58281001 single base substitution G A intron_variant MELA-AU 17 58281101 58281101 single base substitution C T downstream_gene_variant MELA-AU 17 58281101 58281101 single base substitution C T intron_variant MELA-AU 17 58281821 58281821 single base substitution G A downstream_gene_variant MELA-AU 17 58281821 58281821 single base substitution G A intron_variant MELA-AU 17 58282431 58282431 single base substitution G A downstream_gene_variant MELA-AU 17 58282431 58282431 single base substitution G A intron_variant MELA-AU 17 58282502 58282502 single base substitution C T downstream_gene_variant MELA-AU 17 58282502 58282502 single base substitution C T intron_variant MELA-AU 17 58282523 58282523 single base substitution G A downstream_gene_variant MELA-AU 17 58282523 58282523 single base substitution G A intron_variant MELA-AU 17 58282745 58282745 single base substitution A C downstream_gene_variant MELA-AU 17 58282745 58282745 single base substitution A C intron_variant MELA-AU 17 58283132 58283132 single base substitution G A downstream_gene_variant MELA-AU 17 58283132 58283132 single base substitution G A intron_variant MELA-AU 17 58283166 58283167 multiple base substitution (>=2bp and <=200bp) GG AA downstream_gene_variant MELA-AU 17 58283166 58283167 multiple base substitution (>=2bp and <=200bp) GG AA intron_variant MELA-AU 17 58283224 58283225 multiple base substitution (>=2bp and <=200bp) GG AA downstream_gene_variant MELA-AU 17 58283224 58283225 multiple base substitution (>=2bp and <=200bp) GG AA intron_variant MELA-AU 17 58283784 58283784 single base substitution G A downstream_gene_variant MELA-AU 17 58283784 58283784 single base substitution G A intron_variant MELA-AU 17 58284104 58284104 single base substitution A G downstream_gene_variant MELA-AU 17 58284104 58284104 single base substitution A G intron_variant MELA-AU 17 58284685 58284685 single base substitution G A downstream_gene_variant MELA-AU 17 58284685 58284685 single base substitution G A intron_variant MELA-AU 17 58284877 58284877 single base substitution A G downstream_gene_variant MELA-AU 17 58284877 58284877 single base substitution A G intron_variant MELA-AU 17 58285173 58285173 single base substitution C T downstream_gene_variant MELA-AU 17 58285173 58285173 single base substitution C T exon_variant MELA-AU 17 58285173 58285173 single base substitution C T intron_variant MELA-AU 17 58285268 58285268 single base substitution G A downstream_gene_variant MELA-AU 17 58285268 58285268 single base substitution G A exon_variant MELA-AU 17 58285268 58285268 single base substitution G A intron_variant MELA-AU 17 58285382 58285382 single base substitution G A downstream_gene_variant MELA-AU 17 58285382 58285382 single base substitution G A exon_variant MELA-AU 17 58285382 58285382 single base substitution G A intron_variant MELA-AU 17 58285765 58285765 single base substitution C T downstream_gene_variant MELA-AU 17 58285765 58285765 single base substitution C T intron_variant MELA-AU 17 58285915 58285915 single base substitution G A downstream_gene_variant MELA-AU 17 58285915 58285915 single base substitution G A intron_variant MELA-AU 17 58286841 58286841 single base substitution G A downstream_gene_variant MELA-AU 17 58286841 58286841 single base substitution G A synonymous_variant L500L 1498C>T MELA-AU 17 58286841 58286841 single base substitution G A synonymous_variant L827L 2479C>T MELA-AU 17 58286841 58286841 single base substitution G A synonymous_variant L830L 2488C>T MELA-AU 17 58286841 58286841 single base substitution G A upstream_gene_variant MELA-AU 17 58287434 58287434 single base substitution A C downstream_gene_variant MELA-AU 17 58287434 58287434 single base substitution A C intron_variant MELA-AU 17 58287434 58287434 single base substitution A C upstream_gene_variant MELA-AU 17 58287582 58287582 single base substitution A C downstream_gene_variant MELA-AU 17 58287582 58287582 single base substitution A C intron_variant MELA-AU 17 58287582 58287582 single base substitution A C upstream_gene_variant MELA-AU 17 58289079 58289079 single base substitution C T downstream_gene_variant MELA-AU 17 58289079 58289079 single base substitution C T intron_variant MELA-AU 17 58289079 58289079 single base substitution C T upstream_gene_variant MELA-AU 17 58289330 58289330 single base substitution A T downstream_gene_variant MELA-AU 17 58289330 58289330 single base substitution A T intron_variant MELA-AU 17 58289330 58289330 single base substitution A T upstream_gene_variant MELA-AU 17 58289366 58289366 single base substitution A T downstream_gene_variant MELA-AU 17 58289366 58289366 single base substitution A T intron_variant MELA-AU 17 58289366 58289366 single base substitution A T upstream_gene_variant MELA-AU 17 58291586 58291586 single base substitution A G intron_variant MELA-AU 17 58293382 58293382 single base substitution G A downstream_gene_variant MELA-AU 17 58293382 58293382 single base substitution G A intron_variant MELA-AU 17 58293935 58293935 single base substitution G A downstream_gene_variant MELA-AU 17 58293935 58293935 single base substitution G A intron_variant MELA-AU 17 58293940 58293940 single base substitution C T downstream_gene_variant MELA-AU 17 58293940 58293940 single base substitution C T intron_variant MELA-AU 17 58294205 58294205 single base substitution G A downstream_gene_variant MELA-AU 17 58294205 58294205 single base substitution G A intron_variant MELA-AU 17 58294748 58294748 single base substitution T C downstream_gene_variant MELA-AU 17 58294748 58294748 single base substitution T C intron_variant MELA-AU 17 58294875 58294875 single base substitution C T downstream_gene_variant MELA-AU 17 58294875 58294875 single base substitution C T intron_variant MELA-AU 17 58295477 58295477 single base substitution G A downstream_gene_variant MELA-AU 17 58295477 58295477 single base substitution G A intron_variant MELA-AU 17 58295660 58295660 single base substitution G A downstream_gene_variant MELA-AU 17 58295660 58295660 single base substitution G A intron_variant MELA-AU 17 58296963 58296963 single base substitution G A downstream_gene_variant MELA-AU 17 58296963 58296963 single base substitution G A exon_variant MELA-AU 17 58296963 58296963 single base substitution G A intron_variant MELA-AU 17 58297184 58297184 single base substitution A T intron_variant MELA-AU 17 58297376 58297376 single base substitution C T intron_variant MELA-AU 17 58297975 58297976 multiple base substitution (>=2bp and <=200bp) TC GG intron_variant MELA-AU 17 58298096 58298096 single base substitution C T intron_variant MELA-AU 17 58298824 58298824 single base substitution A G downstream_gene_variant MELA-AU 17 58298824 58298824 single base substitution A G intron_variant MELA-AU 17 58299028 58299028 single base substitution G A downstream_gene_variant MELA-AU 17 58299028 58299028 single base substitution G A intron_variant MELA-AU 17 58299831 58299831 single base substitution G A 3_prime_UTR_variant MELA-AU 17 58299831 58299831 single base substitution G A downstream_gene_variant MELA-AU 17 58299831 58299831 single base substitution G A exon_variant MELA-AU 17 58299831 58299831 single base substitution G A missense_variant P233L 698C>T MELA-AU 17 58299831 58299831 single base substitution G A missense_variant P560L 1679C>T MELA-AU 17 58299831 58299831 single base substitution G A missense_variant P563L 1688C>T MELA-AU 17 58299831 58299831 single base substitution G A missense_variant P94L 281C>T MELA-AU 17 58300232 58300232 single base substitution G C downstream_gene_variant MELA-AU 17 58300232 58300232 single base substitution G C intron_variant MELA-AU 17 58300969 58300969 single base substitution G A downstream_gene_variant MELA-AU 17 58300969 58300969 single base substitution G A intron_variant MELA-AU 17 58301010 58301010 single base substitution G A downstream_gene_variant MELA-AU 17 58301010 58301010 single base substitution G A intron_variant MELA-AU 17 58301579 58301579 single base substitution G A downstream_gene_variant MELA-AU 17 58301579 58301579 single base substitution G A intron_variant MELA-AU 17 58301669 58301669 single base substitution G A downstream_gene_variant MELA-AU 17 58301669 58301669 single base substitution G A intron_variant MELA-AU 17 58301808 58301808 single base substitution T A downstream_gene_variant MELA-AU 17 58301808 58301808 single base substitution T A intron_variant MELA-AU 17 58302306 58302306 single base substitution G A downstream_gene_variant MELA-AU 17 58302306 58302306 single base substitution G A intron_variant MELA-AU 17 58303060 58303060 single base substitution A G downstream_gene_variant MELA-AU 17 58303060 58303060 single base substitution A G intron_variant MELA-AU 17 58303185 58303185 single base substitution G A downstream_gene_variant MELA-AU 17 58303185 58303185 single base substitution G A intron_variant MELA-AU 17 58303359 58303359 single base substitution G A downstream_gene_variant MELA-AU 17 58303359 58303359 single base substitution G A intron_variant MELA-AU 17 58303637 58303637 single base substitution G A intron_variant MELA-AU 17 58303637 58303637 single base substitution G A upstream_gene_variant MELA-AU 17 58304055 58304055 single base substitution C T intron_variant MELA-AU 17 58304055 58304055 single base substitution C T upstream_gene_variant MELA-AU 17 58304100 58304100 single base substitution A G intron_variant MELA-AU 17 58304100 58304100 single base substitution A G upstream_gene_variant MELA-AU 17 58304529 58304529 single base substitution C T intron_variant MELA-AU 17 58304529 58304529 single base substitution C T upstream_gene_variant MELA-AU 17 58304598 58304598 single base substitution C G intron_variant MELA-AU 17 58304598 58304598 single base substitution C G upstream_gene_variant MELA-AU 17 58305810 58305810 single base substitution T G intron_variant MELA-AU 17 58305810 58305810 single base substitution T G upstream_gene_variant MELA-AU 17 58306312 58306312 single base substitution G A intron_variant MELA-AU 17 58306312 58306312 single base substitution G A upstream_gene_variant MELA-AU 17 58307182 58307182 single base substitution C T intron_variant MELA-AU 17 58307182 58307182 single base substitution C T upstream_gene_variant MELA-AU 17 58307397 58307397 single base substitution A G intron_variant MELA-AU 17 58307397 58307397 single base substitution A G upstream_gene_variant MELA-AU 17 58307640 58307640 single base substitution T C intron_variant MELA-AU 17 58307640 58307640 single base substitution T C upstream_gene_variant MELA-AU 17 58308487 58308487 single base substitution T A intron_variant MELA-AU 17 58308487 58308487 single base substitution T A upstream_gene_variant MELA-AU 17 58308688 58308688 single base substitution G A intron_variant MELA-AU 17 58308807 58308807 single base substitution A C intron_variant MELA-AU 17 58309068 58309068 single base substitution C A intron_variant MELA-AU 17 58310042 58310042 single base substitution G A intron_variant MELA-AU 17 58310059 58310059 single base substitution C T intron_variant MELA-AU 17 58311743 58311743 single base substitution G A intron_variant MELA-AU 17 58312661 58312661 single base substitution A G intron_variant MELA-AU 17 58312789 58312789 single base substitution G A intron_variant MELA-AU 17 58313025 58313025 single base substitution A G intron_variant MELA-AU 17 58313203 58313203 single base substitution A C intron_variant MELA-AU 17 58313486 58313486 single base substitution G A intron_variant MELA-AU 17 58313511 58313511 single base substitution T A missense_variant E113D 339A>T MELA-AU 17 58313511 58313511 single base substitution T A missense_variant E406D 1218A>T MELA-AU 17 58313511 58313511 single base substitution T A missense_variant E409D 1227A>T MELA-AU 17 58313511 58313511 single base substitution T A missense_variant E79D 237A>T MELA-AU 17 58315332 58315332 single base substitution C T intron_variant MELA-AU 17 58315521 58315521 single base substitution A C intron_variant MELA-AU 17 58316298 58316298 single base substitution A G intron_variant MELA-AU 17 58318521 58318521 single base substitution G A intron_variant MELA-AU 17 58318575 58318575 single base substitution G A intron_variant MELA-AU 17 58319292 58319292 single base substitution G A intron_variant MELA-AU 17 58319447 58319447 single base substitution G A intron_variant MELA-AU 17 58319448 58319448 single base substitution G A intron_variant MELA-AU 17 58319454 58319454 single base substitution C T intron_variant MELA-AU 17 58321132 58321132 single base substitution C A intron_variant MELA-AU 17 58321151 58321151 single base substitution G C intron_variant MELA-AU 17 58321293 58321293 single base substitution G A intron_variant MELA-AU 17 58321591 58321591 single base substitution G A downstream_gene_variant MELA-AU 17 58321591 58321591 single base substitution G A intron_variant MELA-AU 17 58322118 58322118 single base substitution G A downstream_gene_variant MELA-AU 17 58322118 58322118 single base substitution G A intron_variant MELA-AU 17 58322343 58322343 single base substitution G A downstream_gene_variant MELA-AU 17 58322343 58322343 single base substitution G A intron_variant MELA-AU 17 58323716 58323716 single base substitution A C downstream_gene_variant MELA-AU 17 58323716 58323716 single base substitution A C intron_variant MELA-AU 17 58324317 58324317 single base substitution G A downstream_gene_variant MELA-AU 17 58324317 58324317 single base substitution G A intron_variant MELA-AU 17 58325014 58325014 single base substitution G A downstream_gene_variant MELA-AU 17 58325014 58325014 single base substitution G A intron_variant MELA-AU 17 58325266 58325266 single base substitution C A downstream_gene_variant MELA-AU 17 58325266 58325266 single base substitution C A intron_variant MELA-AU 17 58325313 58325313 single base substitution A G downstream_gene_variant MELA-AU 17 58325313 58325313 single base substitution A G intron_variant MELA-AU 17 58325420 58325421 multiple base substitution (>=2bp and <=200bp) GG AA downstream_gene_variant MELA-AU 17 58325420 58325421 multiple base substitution (>=2bp and <=200bp) GG AA intron_variant MELA-AU 17 58326068 58326068 single base substitution A C downstream_gene_variant MELA-AU 17 58326068 58326068 single base substitution A C intron_variant MELA-AU 17 58326996 58326996 single base substitution G A 3_prime_UTR_variant MELA-AU 17 58326996 58326996 single base substitution G A intron_variant MELA-AU 17 58328195 58328195 single base substitution G A intron_variant MELA-AU 17 58328447 58328447 single base substitution G A intron_variant MELA-AU 17 58328803 58328803 single base substitution C A intron_variant MELA-AU 17 58330787 58330787 single base substitution A G intron_variant MELA-AU 17 58330941 58330941 single base substitution A G intron_variant MELA-AU 17 58330990 58330990 single base substitution G A intron_variant MELA-AU 17 58331011 58331011 single base substitution C A intron_variant MELA-AU 17 58331080 58331080 single base substitution T C intron_variant MELA-AU 17 58331482 58331482 single base substitution G A intron_variant MELA-AU 17 58332076 58332076 single base substitution A T intron_variant MELA-AU 17 58332538 58332538 single base substitution G A intron_variant MELA-AU 17 58332538 58332538 single base substitution G A stop_gained Q28* 82C>T MELA-AU 17 58332538 58332538 single base substitution G A stop_gained Q355* 1063C>T MELA-AU 17 58332538 58332538 single base substitution G A stop_gained Q358* 1072C>T MELA-AU 17 58332644 58332644 single base substitution G A intron_variant MELA-AU 17 58332722 58332722 single base substitution G A intron_variant MELA-AU 17 58333046 58333046 single base substitution T G intron_variant MELA-AU 17 58333326 58333326 single base substitution G A intron_variant MELA-AU 17 58333944 58333944 single base substitution G A intron_variant MELA-AU 17 58334240 58334240 single base substitution T A intron_variant MELA-AU 17 58334240 58334240 single base substitution T A upstream_gene_variant MELA-AU 17 58334578 58334578 single base substitution A G intron_variant MELA-AU 17 58334578 58334578 single base substitution A G upstream_gene_variant MELA-AU 17 58334650 58334650 single base substitution G A intron_variant MELA-AU 17 58334650 58334650 single base substitution G A upstream_gene_variant MELA-AU 17 58334715 58334715 single base substitution G A intron_variant MELA-AU 17 58334715 58334715 single base substitution G A upstream_gene_variant MELA-AU 17 58334864 58334864 single base substitution A G intron_variant MELA-AU 17 58334864 58334864 single base substitution A G upstream_gene_variant MELA-AU 17 58335979 58335979 single base substitution C T intron_variant MELA-AU 17 58335979 58335979 single base substitution C T upstream_gene_variant MELA-AU 17 58336153 58336153 single base substitution G A intron_variant MELA-AU 17 58336153 58336153 single base substitution G A upstream_gene_variant MELA-AU 17 58336201 58336201 single base substitution T C intron_variant MELA-AU 17 58336201 58336201 single base substitution T C upstream_gene_variant MELA-AU 17 58336571 58336571 single base substitution G A intron_variant MELA-AU 17 58336571 58336571 single base substitution G A upstream_gene_variant MELA-AU 17 58336759 58336759 single base substitution G A intron_variant MELA-AU 17 58336759 58336759 single base substitution G A upstream_gene_variant MELA-AU 17 58337209 58337209 single base substitution C A intron_variant MELA-AU 17 58337209 58337209 single base substitution C A upstream_gene_variant MELA-AU 17 58337457 58337457 single base substitution C T intron_variant MELA-AU 17 58337457 58337457 single base substitution C T upstream_gene_variant MELA-AU 17 58337753 58337753 single base substitution G A intron_variant MELA-AU 17 58337753 58337753 single base substitution G A upstream_gene_variant MELA-AU 17 58337754 58337754 single base substitution G A intron_variant MELA-AU 17 58337754 58337754 single base substitution G A upstream_gene_variant MELA-AU 17 58337843 58337843 single base substitution T G intron_variant MELA-AU 17 58337843 58337843 single base substitution T G upstream_gene_variant MELA-AU 17 58338065 58338065 single base substitution G A intron_variant MELA-AU 17 58338065 58338065 single base substitution G A upstream_gene_variant MELA-AU 17 58338459 58338459 single base substitution G A intron_variant MELA-AU 17 58338459 58338459 single base substitution G A upstream_gene_variant MELA-AU 17 58338622 58338622 single base substitution A G intron_variant MELA-AU 17 58338622 58338622 single base substitution A G upstream_gene_variant MELA-AU 17 58338767 58338767 single base substitution G A intron_variant MELA-AU 17 58338767 58338767 single base substitution G A upstream_gene_variant MELA-AU 17 58339320 58339320 single base substitution G A intron_variant MELA-AU 17 58340175 58340175 single base substitution C T intron_variant MELA-AU 17 58340248 58340248 single base substitution C T intron_variant MELA-AU 17 58340327 58340327 single base substitution C T intron_variant MELA-AU 17 58340534 58340534 single base substitution C A intron_variant MELA-AU 17 58340846 58340846 single base substitution A G intron_variant MELA-AU 17 58340870 58340870 single base substitution G A intron_variant MELA-AU 17 58341588 58341588 single base substitution A G intron_variant MELA-AU 17 58341641 58341641 single base substitution G A intron_variant MELA-AU 17 58342816 58342816 single base substitution G A intron_variant MELA-AU 17 58342816 58342816 single base substitution G A missense_variant S313F 938C>T MELA-AU 17 58342816 58342816 single base substitution G A missense_variant S316F 947C>T MELA-AU 17 58343055 58343055 single base substitution G A intron_variant MELA-AU 17 58343100 58343100 single base substitution G A intron_variant MELA-AU 17 58343123 58343123 single base substitution C T intron_variant MELA-AU 17 58343188 58343188 single base substitution T A intron_variant MELA-AU 17 58343283 58343283 single base substitution C T intron_variant MELA-AU 17 58343339 58343339 single base substitution G A intron_variant MELA-AU 17 58343339 58343339 single base substitution G A missense_variant P306S 916C>T MELA-AU 17 58343339 58343339 single base substitution G A missense_variant P309S 925C>T MELA-AU 17 58343478 58343478 single base substitution G A intron_variant MELA-AU 17 58343992 58343992 single base substitution G A intron_variant MELA-AU 17 58344340 58344340 single base substitution G A intron_variant MELA-AU 17 58344716 58344716 single base substitution G A intron_variant MELA-AU 17 58344810 58344810 single base substitution G A intron_variant MELA-AU 17 58344962 58344962 single base substitution A G intron_variant MELA-AU 17 58345294 58345294 single base substitution C T intron_variant MELA-AU 17 58345547 58345547 single base substitution C T intron_variant MELA-AU 17 58345581 58345581 single base substitution T C intron_variant MELA-AU 17 58346555 58346555 single base substitution A G intron_variant MELA-AU 17 58346724 58346724 single base substitution C T intron_variant MELA-AU 17 58347285 58347285 single base substitution G A intron_variant MELA-AU 17 58347746 58347746 single base substitution G A intron_variant MELA-AU 17 58347948 58347948 single base substitution G A intron_variant MELA-AU 17 58348735 58348735 single base substitution G A intron_variant MELA-AU 17 58348735 58348735 single base substitution G A missense_variant P224S 670C>T MELA-AU 17 58348735 58348735 single base substitution G A missense_variant P227S 679C>T MELA-AU 17 58349157 58349157 single base substitution A G intron_variant MELA-AU 17 58349341 58349341 single base substitution T C intron_variant MELA-AU 17 58349448 58349448 single base substitution T A intron_variant MELA-AU 17 58349654 58349654 single base substitution G A intron_variant MELA-AU 17 58349733 58349733 single base substitution G A intron_variant MELA-AU 17 58349797 58349797 single base substitution G A intron_variant MELA-AU 17 58349988 58349988 single base substitution G A intron_variant MELA-AU 17 58350017 58350017 single base substitution T A intron_variant MELA-AU 17 58350033 58350033 single base substitution G A intron_variant MELA-AU 17 58350053 58350053 single base substitution C A intron_variant MELA-AU 17 58350890 58350890 single base substitution C T intron_variant MELA-AU 17 58350895 58350895 single base substitution T A intron_variant MELA-AU 17 58351082 58351082 single base substitution G A intron_variant MELA-AU 17 58351392 58351392 single base substitution C T intron_variant MELA-AU 17 58351677 58351677 single base substitution G A intron_variant MELA-AU 17 58351986 58351986 single base substitution G A intron_variant MELA-AU 17 58352023 58352023 single base substitution G A intron_variant MELA-AU 17 58352546 58352546 single base substitution G A intron_variant MELA-AU 17 58352629 58352629 single base substitution G A intron_variant MELA-AU 17 58352745 58352745 single base substitution G A intron_variant MELA-AU 17 58353539 58353539 single base substitution G A intron_variant MELA-AU 17 58353910 58353910 single base substitution T G intron_variant MELA-AU 17 58354493 58354493 single base substitution A G intron_variant MELA-AU 17 58354810 58354810 single base substitution G A intron_variant MELA-AU 17 58355123 58355124 multiple base substitution (>=2bp and <=200bp) GC AA intron_variant MELA-AU 17 58355202 58355202 single base substitution G A intron_variant MELA-AU 17 58356344 58356344 single base substitution G A intron_variant MELA-AU 17 58356583 58356583 single base substitution G A intron_variant MELA-AU 17 58356697 58356697 single base substitution A G intron_variant MELA-AU 17 58357347 58357347 single base substitution C T intron_variant MELA-AU 17 58358149 58358149 single base substitution G A intron_variant MELA-AU 17 58359378 58359378 single base substitution G A intron_variant MELA-AU 17 58359604 58359604 single base substitution G A intron_variant MELA-AU 17 58359966 58359966 single base substitution G A intron_variant MELA-AU 17 58360105 58360105 single base substitution G A intron_variant MELA-AU 17 58360716 58360716 single base substitution G A intron_variant MELA-AU 17 58360727 58360727 single base substitution A T intron_variant MELA-AU 17 58361143 58361143 single base substitution G A intron_variant MELA-AU 17 58362470 58362470 single base substitution G A intron_variant MELA-AU 17 58362907 58362907 single base substitution G A intron_variant MELA-AU 17 58363032 58363032 single base substitution G A intron_variant MELA-AU 17 58363140 58363140 single base substitution G A intron_variant MELA-AU 17 58363274 58363274 single base substitution G A intron_variant MELA-AU 17 58363929 58363929 single base substitution A C intron_variant MELA-AU 17 58364437 58364437 single base substitution G A intron_variant MELA-AU 17 58364553 58364553 single base substitution G A intron_variant MELA-AU 17 58366393 58366393 single base substitution G A intron_variant MELA-AU 17 58366504 58366504 single base substitution G A intron_variant MELA-AU 17 58367044 58367044 single base substitution G A downstream_gene_variant MELA-AU 17 58367044 58367044 single base substitution G A intron_variant MELA-AU 17 58367054 58367054 single base substitution G A downstream_gene_variant MELA-AU 17 58367054 58367054 single base substitution G A intron_variant MELA-AU 17 58367099 58367099 single base substitution G A downstream_gene_variant MELA-AU 17 58367099 58367099 single base substitution G A intron_variant MELA-AU 17 58367646 58367646 single base substitution C T downstream_gene_variant MELA-AU 17 58367646 58367646 single base substitution C T intron_variant MELA-AU 17 58368059 58368059 single base substitution G A downstream_gene_variant MELA-AU 17 58368059 58368059 single base substitution G A intron_variant MELA-AU 17 58368099 58368099 single base substitution G A downstream_gene_variant MELA-AU 17 58368099 58368099 single base substitution G A intron_variant MELA-AU 17 58368360 58368360 single base substitution C G downstream_gene_variant MELA-AU 17 58368360 58368360 single base substitution C G intron_variant MELA-AU 17 58368896 58368896 single base substitution G A downstream_gene_variant MELA-AU 17 58368896 58368896 single base substitution G A intron_variant MELA-AU 17 58368898 58368898 single base substitution A G downstream_gene_variant MELA-AU 17 58368898 58368898 single base substitution A G intron_variant MELA-AU 17 58369665 58369665 single base substitution G A downstream_gene_variant MELA-AU 17 58369665 58369665 single base substitution G A intron_variant MELA-AU 17 58369933 58369933 single base substitution G A downstream_gene_variant MELA-AU 17 58369933 58369933 single base substitution G A intron_variant MELA-AU 17 58370054 58370054 single base substitution G A downstream_gene_variant MELA-AU 17 58370054 58370054 single base substitution G A intron_variant MELA-AU 17 58370067 58370067 single base substitution G A downstream_gene_variant MELA-AU 17 58370067 58370067 single base substitution G A intron_variant MELA-AU 17 58370460 58370460 single base substitution A C downstream_gene_variant MELA-AU 17 58370460 58370460 single base substitution A C intron_variant MELA-AU 17 58370781 58370782 multiple base substitution (>=2bp and <=200bp) GG AA downstream_gene_variant MELA-AU 17 58370781 58370782 multiple base substitution (>=2bp and <=200bp) GG AA intron_variant MELA-AU 17 58370782 58370782 single base substitution G A downstream_gene_variant MELA-AU 17 58370782 58370782 single base substitution G A intron_variant MELA-AU 17 58370973 58370973 single base substitution G A downstream_gene_variant MELA-AU 17 58370973 58370973 single base substitution G A intron_variant MELA-AU 17 58371298 58371299 multiple base substitution (>=2bp and <=200bp) CA TT downstream_gene_variant MELA-AU 17 58371298 58371299 multiple base substitution (>=2bp and <=200bp) CA TT intron_variant MELA-AU 17 58371571 58371571 single base substitution G A downstream_gene_variant MELA-AU 17 58371571 58371571 single base substitution G A intron_variant MELA-AU 17 58371817 58371817 single base substitution T C downstream_gene_variant MELA-AU 17 58371817 58371817 single base substitution T C intron_variant MELA-AU 17 58372648 58372648 single base substitution G A intron_variant MELA-AU 17 58372678 58372678 single base substitution G A intron_variant MELA-AU 17 58372700 58372700 single base substitution G A intron_variant MELA-AU 17 58373420 58373420 single base substitution G A intron_variant MELA-AU 17 58374241 58374241 single base substitution G A downstream_gene_variant MELA-AU 17 58374241 58374241 single base substitution G A intron_variant MELA-AU 17 58374275 58374275 single base substitution C T downstream_gene_variant MELA-AU 17 58374275 58374275 single base substitution C T intron_variant MELA-AU 17 58374302 58374302 single base substitution C A downstream_gene_variant MELA-AU 17 58374302 58374302 single base substitution C A intron_variant MELA-AU 17 58375152 58375153 multiple base substitution (>=2bp and <=200bp) TA AG downstream_gene_variant MELA-AU 17 58375152 58375153 multiple base substitution (>=2bp and <=200bp) TA AG intron_variant MELA-AU 17 58376074 58376074 single base substitution A G downstream_gene_variant MELA-AU 17 58376074 58376074 single base substitution A G intron_variant MELA-AU 17 58376260 58376260 single base substitution G A downstream_gene_variant MELA-AU 17 58376260 58376260 single base substitution G A intron_variant MELA-AU 17 58376387 58376387 single base substitution G A downstream_gene_variant MELA-AU 17 58376387 58376387 single base substitution G A intron_variant MELA-AU 17 58376810 58376810 single base substitution G A downstream_gene_variant MELA-AU 17 58376810 58376810 single base substitution G A intron_variant MELA-AU 17 58377042 58377042 single base substitution C A downstream_gene_variant MELA-AU 17 58377042 58377042 single base substitution C A intron_variant MELA-AU 17 58377054 58377054 single base substitution G A downstream_gene_variant MELA-AU 17 58377054 58377054 single base substitution G A intron_variant MELA-AU 17 58377264 58377264 single base substitution G A downstream_gene_variant MELA-AU 17 58377264 58377264 single base substitution G A intron_variant MELA-AU 17 58377519 58377519 single base substitution G A downstream_gene_variant MELA-AU 17 58377519 58377519 single base substitution G A intron_variant MELA-AU 17 58378080 58378081 deletion of <=200bp TA - downstream_gene_variant MELA-AU 17 58378080 58378081 deletion of <=200bp TA - intron_variant MELA-AU 17 58378098 58378098 single base substitution G A downstream_gene_variant MELA-AU 17 58378098 58378098 single base substitution G A intron_variant MELA-AU 17 58378210 58378211 multiple base substitution (>=2bp and <=200bp) CC TT downstream_gene_variant MELA-AU 17 58378210 58378211 multiple base substitution (>=2bp and <=200bp) CC TT intron_variant MELA-AU 17 58378278 58378278 single base substitution T A downstream_gene_variant MELA-AU 17 58378278 58378278 single base substitution T A intron_variant MELA-AU 17 58378279 58378279 single base substitution G A downstream_gene_variant MELA-AU 17 58378279 58378279 single base substitution G A intron_variant MELA-AU 17 58378929 58378929 single base substitution G A downstream_gene_variant MELA-AU 17 58378929 58378929 single base substitution G A exon_variant MELA-AU 17 58378929 58378929 single base substitution G A intron_variant MELA-AU 17 58379115 58379115 single base substitution G C intron_variant MELA-AU 17 58379198 58379198 single base substitution A T intron_variant MELA-AU 17 58379482 58379482 single base substitution A G intron_variant MELA-AU 17 58380070 58380070 single base substitution A G intron_variant MELA-AU 17 58380145 58380145 single base substitution G A intron_variant MELA-AU 17 58380659 58380659 single base substitution G A intron_variant MELA-AU 17 58380714 58380714 single base substitution G A intron_variant MELA-AU 17 58380979 58380979 single base substitution A G intron_variant MELA-AU 17 58381094 58381094 single base substitution G A intron_variant MELA-AU 17 58381224 58381224 single base substitution G A intron_variant MELA-AU 17 58381235 58381235 single base substitution G A intron_variant MELA-AU 17 58381554 58381554 single base substitution A T intron_variant MELA-AU 17 58382258 58382258 single base substitution A C intron_variant MELA-AU 17 58382329 58382329 single base substitution G A exon_variant MELA-AU 17 58382329 58382329 single base substitution G A intron_variant MELA-AU 17 58383468 58383468 single base substitution A G intron_variant MELA-AU 17 58383468 58383468 single base substitution A G upstream_gene_variant MELA-AU 17 58383563 58383563 single base substitution G A intron_variant MELA-AU 17 58383563 58383563 single base substitution G A upstream_gene_variant MELA-AU 17 58384086 58384086 single base substitution G A intron_variant MELA-AU 17 58384086 58384086 single base substitution G A upstream_gene_variant MELA-AU 17 58384272 58384272 single base substitution C T intron_variant MELA-AU 17 58384272 58384272 single base substitution C T upstream_gene_variant MELA-AU 17 58385107 58385107 single base substitution C G intron_variant MELA-AU 17 58385107 58385107 single base substitution C G upstream_gene_variant MELA-AU 17 58385358 58385358 single base substitution G A intron_variant MELA-AU 17 58385358 58385358 single base substitution G A upstream_gene_variant MELA-AU 17 58385406 58385406 single base substitution G A intron_variant MELA-AU 17 58385406 58385406 single base substitution G A upstream_gene_variant MELA-AU 17 58385407 58385407 single base substitution G A intron_variant MELA-AU 17 58385407 58385407 single base substitution G A upstream_gene_variant MELA-AU 17 58385734 58385734 single base substitution C T intron_variant MELA-AU 17 58385734 58385734 single base substitution C T upstream_gene_variant MELA-AU 17 58385806 58385806 single base substitution G A intron_variant MELA-AU 17 58385806 58385806 single base substitution G A upstream_gene_variant MELA-AU 17 58386412 58386412 single base substitution G A intron_variant MELA-AU 17 58386412 58386412 single base substitution G A upstream_gene_variant MELA-AU 17 58387196 58387196 single base substitution G A intron_variant MELA-AU 17 58387196 58387196 single base substitution G A upstream_gene_variant MELA-AU 17 58387331 58387331 single base substitution G A intron_variant MELA-AU 17 58387331 58387331 single base substitution G A upstream_gene_variant MELA-AU 17 58387567 58387567 single base substitution T A intron_variant MELA-AU 17 58387567 58387567 single base substitution T A upstream_gene_variant MELA-AU 17 58387611 58387611 single base substitution C G intron_variant MELA-AU 17 58387844 58387844 single base substitution G A intron_variant MELA-AU 17 58387989 58387989 single base substitution G A intron_variant MELA-AU 17 58388338 58388338 single base substitution T A intron_variant MELA-AU 17 58388807 58388807 single base substitution G A intron_variant MELA-AU 17 58391688 58391688 single base substitution A T intron_variant MELA-AU 17 58391998 58391998 single base substitution C T intron_variant MELA-AU 17 58392954 58392954 single base substitution G A intron_variant MELA-AU 17 58393025 58393025 single base substitution G A intron_variant MELA-AU 17 58394000 58394000 single base substitution G A intron_variant MELA-AU 17 58394289 58394289 single base substitution A G intron_variant MELA-AU 17 58394788 58394788 single base substitution G A intron_variant MELA-AU 17 58394967 58394967 single base substitution G A intron_variant MELA-AU 17 58395661 58395661 single base substitution G A intron_variant MELA-AU 17 58395990 58395990 single base substitution C T intron_variant MELA-AU 17 58396175 58396175 single base substitution G A intron_variant MELA-AU 17 58396490 58396490 single base substitution C T intron_variant MELA-AU 17 58398304 58398304 single base substitution T C intron_variant MELA-AU 17 58398359 58398359 single base substitution C T intron_variant MELA-AU 17 58398643 58398643 single base substitution G A intron_variant MELA-AU 17 58398884 58398884 single base substitution G A intron_variant MELA-AU 17 58399512 58399512 single base substitution G A intron_variant MELA-AU 17 58399620 58399621 multiple base substitution (>=2bp and <=200bp) CC TT intron_variant MELA-AU 17 58401433 58401433 single base substitution G T intron_variant MELA-AU 17 58402369 58402369 single base substitution A C intron_variant MELA-AU 17 58402434 58402434 single base substitution G A intron_variant MELA-AU 17 58403706 58403706 single base substitution T C intron_variant MELA-AU 17 58403742 58403742 single base substitution G A intron_variant MELA-AU 17 58403889 58403889 single base substitution A G intron_variant MELA-AU 17 58403962 58403962 single base substitution G A intron_variant MELA-AU 17 58404088 58404088 single base substitution G A intron_variant MELA-AU 17 58404454 58404454 single base substitution G A intron_variant MELA-AU 17 58404710 58404710 single base substitution G A intron_variant MELA-AU 17 58405506 58405506 single base substitution G A intron_variant MELA-AU 17 58408069 58408070 multiple base substitution (>=2bp and <=200bp) GG AA intron_variant MELA-AU 17 58408568 58408569 multiple base substitution (>=2bp and <=200bp) CC TT intron_variant MELA-AU 17 58409043 58409043 single base substitution G A intron_variant MELA-AU 17 58409372 58409372 single base substitution G A intron_variant MELA-AU 17 58410767 58410767 single base substitution C T intron_variant MELA-AU 17 58410887 58410887 single base substitution G A intron_variant MELA-AU 17 58411013 58411013 single base substitution G A intron_variant MELA-AU 17 58411961 58411961 single base substitution G A intron_variant MELA-AU 17 58412378 58412378 single base substitution C T intron_variant MELA-AU 17 58414260 58414260 single base substitution A G intron_variant MELA-AU 17 58414555 58414555 single base substitution G A intron_variant MELA-AU 17 58415108 58415108 single base substitution G A intron_variant MELA-AU 17 58415168 58415168 single base substitution G A intron_variant MELA-AU 17 58415868 58415868 single base substitution G A intron_variant MELA-AU 17 58416373 58416373 single base substitution C A intron_variant MELA-AU 17 58416541 58416541 single base substitution G A intron_variant MELA-AU 17 58416574 58416574 single base substitution G A intron_variant MELA-AU 17 58418035 58418035 single base substitution A C intron_variant MELA-AU 17 58418381 58418381 single base substitution G A intron_variant MELA-AU 17 58418633 58418633 single base substitution G A intron_variant MELA-AU 17 58418734 58418734 single base substitution G A intron_variant MELA-AU 17 58418827 58418827 single base substitution A G intron_variant MELA-AU 17 58419197 58419197 single base substitution G A intron_variant MELA-AU 17 58419654 58419654 single base substitution G A intron_variant MELA-AU 17 58420035 58420035 single base substitution G A intron_variant MELA-AU 17 58420101 58420101 single base substitution G A intron_variant MELA-AU 17 58420916 58420916 single base substitution G A intron_variant MELA-AU 17 58421217 58421217 single base substitution A G intron_variant MELA-AU 17 58421252 58421252 single base substitution G A intron_variant MELA-AU 17 58421574 58421574 single base substitution C T intron_variant MELA-AU 17 58422397 58422397 single base substitution T C intron_variant MELA-AU 17 58423174 58423174 single base substitution C T intron_variant MELA-AU 17 58423268 58423268 single base substitution G T intron_variant MELA-AU 17 58424268 58424268 single base substitution G A intron_variant MELA-AU 17 58425080 58425080 single base substitution C T intron_variant MELA-AU 17 58425391 58425391 single base substitution G A intron_variant MELA-AU 17 58426449 58426449 single base substitution T A intron_variant MELA-AU 17 58426657 58426657 single base substitution G A intron_variant MELA-AU 17 58426692 58426692 single base substitution G A intron_variant MELA-AU 17 58427960 58427960 single base substitution A G intron_variant MELA-AU 17 58428010 58428010 single base substitution A T intron_variant MELA-AU 17 58428424 58428424 single base substitution G A intron_variant MELA-AU 17 58428489 58428489 insertion of <=200bp - G intron_variant MELA-AU 17 58428537 58428537 single base substitution G A intron_variant MELA-AU 17 58428691 58428691 single base substitution G A intron_variant MELA-AU 17 58429650 58429651 multiple base substitution (>=2bp and <=200bp) GG AA intron_variant MELA-AU 17 58429739 58429739 single base substitution G A intron_variant MELA-AU 17 58429757 58429757 single base substitution G C intron_variant MELA-AU 17 58429802 58429802 single base substitution G A intron_variant MELA-AU 17 58430552 58430552 single base substitution C T intron_variant MELA-AU 17 58430694 58430694 single base substitution G A intron_variant MELA-AU 17 58431025 58431025 single base substitution C T intron_variant MELA-AU 17 58431972 58431972 deletion of <=200bp A - intron_variant MELA-AU 17 58432198 58432198 single base substitution G A intron_variant MELA-AU 17 58432474 58432474 single base substitution G A intron_variant MELA-AU 17 58432806 58432806 single base substitution G A intron_variant MELA-AU 17 58433544 58433544 single base substitution C T intron_variant MELA-AU 17 58433580 58433580 single base substitution T A intron_variant MELA-AU 17 58433638 58433638 single base substitution G A intron_variant MELA-AU 17 58433758 58433758 single base substitution C T intron_variant MELA-AU 17 58434308 58434308 single base substitution G A intron_variant MELA-AU 17 58434717 58434717 single base substitution G A intron_variant MELA-AU 17 58435390 58435390 single base substitution A G intron_variant MELA-AU 17 58435711 58435711 single base substitution G A intron_variant MELA-AU 17 58435754 58435754 single base substitution G A intron_variant MELA-AU 17 58435840 58435840 single base substitution G A intron_variant MELA-AU 17 58436036 58436036 single base substitution C G intron_variant MELA-AU 17 58436092 58436092 single base substitution C G intron_variant MELA-AU 17 58436337 58436337 single base substitution G A intron_variant MELA-AU 17 58436410 58436410 single base substitution C G intron_variant MELA-AU 17 58436448 58436448 single base substitution C A intron_variant MELA-AU 17 58436573 58436573 single base substitution C T intron_variant MELA-AU 17 58436596 58436596 single base substitution C G intron_variant MELA-AU 17 58436993 58436993 single base substitution G A intron_variant MELA-AU 17 58437659 58437659 single base substitution A G intron_variant MELA-AU 17 58437823 58437823 single base substitution C T intron_variant MELA-AU 17 58437848 58437848 single base substitution C T intron_variant MELA-AU 17 58438304 58438304 single base substitution A G intron_variant MELA-AU 17 58438997 58438997 single base substitution A T intron_variant MELA-AU 17 58439097 58439097 single base substitution C T intron_variant MELA-AU 17 58439339 58439339 single base substitution C T intron_variant MELA-AU 17 58439721 58439721 single base substitution G A intron_variant MELA-AU 17 58440714 58440714 single base substitution G A intron_variant MELA-AU 17 58440822 58440822 single base substitution A T intron_variant MELA-AU 17 58441660 58441660 single base substitution A G intron_variant MELA-AU 17 58442393 58442393 single base substitution A G intron_variant MELA-AU 17 58442603 58442603 single base substitution A G intron_variant MELA-AU 17 58442904 58442904 single base substitution A C intron_variant MELA-AU 17 58442991 58442991 single base substitution T C intron_variant MELA-AU 17 58443482 58443482 single base substitution G A intron_variant MELA-AU 17 58443709 58443709 single base substitution G A intron_variant MELA-AU 17 58443847 58443847 single base substitution G A intron_variant MELA-AU 17 58444554 58444554 single base substitution A C intron_variant MELA-AU 17 58445459 58445459 single base substitution G A intron_variant MELA-AU 17 58445560 58445560 single base substitution C T intron_variant MELA-AU 17 58446317 58446317 single base substitution G A intron_variant MELA-AU 17 58446723 58446724 multiple base substitution (>=2bp and <=200bp) GG AA intron_variant MELA-AU 17 58448393 58448393 single base substitution A T intron_variant MELA-AU 17 58448707 58448707 single base substitution C T intron_variant MELA-AU 17 58449097 58449098 multiple base substitution (>=2bp and <=200bp) CC TT intron_variant MELA-AU 17 58449264 58449264 single base substitution A G intron_variant MELA-AU 17 58449453 58449453 single base substitution A G intron_variant MELA-AU 17 58449764 58449765 multiple base substitution (>=2bp and <=200bp) GG AA intron_variant MELA-AU 17 58450087 58450087 single base substitution C T intron_variant MELA-AU 17 58450609 58450609 single base substitution C T intron_variant MELA-AU 17 58450697 58450697 single base substitution G A intron_variant MELA-AU 17 58451612 58451613 multiple base substitution (>=2bp and <=200bp) AT TA intron_variant MELA-AU 17 58451677 58451677 single base substitution G A intron_variant MELA-AU 17 58452218 58452218 single base substitution C T intron_variant MELA-AU 17 58452310 58452310 single base substitution T A intron_variant MELA-AU 17 58453486 58453486 single base substitution A T intron_variant MELA-AU 17 58455035 58455035 single base substitution C T intron_variant MELA-AU 17 58455531 58455531 single base substitution A T intron_variant MELA-AU 17 58455772 58455772 single base substitution G A intron_variant MELA-AU 17 58456477 58456477 single base substitution T C intron_variant MELA-AU 17 58456574 58456574 insertion of <=200bp - TTTA intron_variant MELA-AU 17 58456653 58456653 single base substitution G A intron_variant MELA-AU 17 58456966 58456966 single base substitution T G intron_variant MELA-AU 17 58457566 58457566 single base substitution A G intron_variant MELA-AU 17 58457644 58457644 single base substitution G A intron_variant MELA-AU 17 58457856 58457856 single base substitution G A intron_variant MELA-AU 17 58457951 58457951 single base substitution G A intron_variant MELA-AU 17 58458089 58458089 single base substitution G A intron_variant MELA-AU 17 58458368 58458368 single base substitution T C intron_variant MELA-AU 17 58458404 58458404 single base substitution G A intron_variant MELA-AU 17 58458514 58458514 single base substitution A T intron_variant MELA-AU 17 58458703 58458703 single base substitution G A intron_variant MELA-AU 17 58458836 58458836 single base substitution G A intron_variant MELA-AU 17 58459249 58459249 single base substitution G A intron_variant MELA-AU 17 58459845 58459845 single base substitution T A intron_variant MELA-AU 17 58459879 58459879 single base substitution G A intron_variant MELA-AU 17 58460834 58460834 single base substitution A G intron_variant MELA-AU 17 58461198 58461198 single base substitution G A intron_variant MELA-AU 17 58462074 58462074 single base substitution A T intron_variant MELA-AU 17 58463300 58463300 single base substitution G A intron_variant MELA-AU 17 58463380 58463381 deletion of <=200bp AC - intron_variant MELA-AU 17 58465279 58465279 single base substitution G A intron_variant MELA-AU 17 58465333 58465333 single base substitution C T intron_variant MELA-AU 17 58465341 58465341 single base substitution G A intron_variant MELA-AU 17 58465993 58465993 single base substitution A G intron_variant MELA-AU 17 58466178 58466178 single base substitution C T intron_variant MELA-AU 17 58466475 58466475 single base substitution C T intron_variant MELA-AU 17 58467170 58467170 single base substitution G A intron_variant MELA-AU 17 58467299 58467299 single base substitution A G intron_variant MELA-AU 17 58468763 58468763 single base substitution G C intron_variant MELA-AU 17 58468787 58468787 single base substitution G C intron_variant MELA-AU 17 58468978 58468978 single base substitution C A intron_variant MELA-AU 17 58469847 58469847 single base substitution C T intron_variant MELA-AU 17 58469847 58469847 single base substitution C T upstream_gene_variant MELA-AU 17 58469853 58469853 single base substitution C T intron_variant MELA-AU 17 58469853 58469853 single base substitution C T upstream_gene_variant MELA-AU 17 58470427 58470427 single base substitution C T intron_variant MELA-AU 17 58470427 58470427 single base substitution C T upstream_gene_variant MELA-AU 17 58470763 58470763 single base substitution C T intron_variant MELA-AU 17 58470763 58470763 single base substitution C T upstream_gene_variant MELA-AU 17 58471265 58471265 single base substitution G A intron_variant MELA-AU 17 58471265 58471265 single base substitution G A upstream_gene_variant MELA-AU 17 58472325 58472325 single base substitution G A intron_variant MELA-AU 17 58472325 58472325 single base substitution G A upstream_gene_variant MELA-AU 17 58472714 58472714 single base substitution C T intron_variant MELA-AU 17 58472714 58472714 single base substitution C T upstream_gene_variant MELA-AU 17 58472796 58472797 multiple base substitution (>=2bp and <=200bp) CC TT intron_variant MELA-AU 17 58472796 58472797 multiple base substitution (>=2bp and <=200bp) CC TT upstream_gene_variant MELA-AU 17 58472949 58472949 single base substitution C T intron_variant MELA-AU 17 58472949 58472949 single base substitution C T upstream_gene_variant MELA-AU 17 58473663 58473663 single base substitution C T intron_variant MELA-AU 17 58473663 58473663 single base substitution C T upstream_gene_variant MELA-AU 17 58474262 58474262 single base substitution C T intron_variant MELA-AU 17 58474262 58474262 single base substitution C T upstream_gene_variant MELA-AU 17 58474546 58474546 single base substitution G A intron_variant MELA-AU 17 58474546 58474546 single base substitution G A upstream_gene_variant MELA-AU 17 58474992 58474992 single base substitution G A intron_variant MELA-AU 17 58475127 58475127 single base substitution C T intron_variant MELA-AU 17 58475168 58475168 single base substitution G A intron_variant MELA-AU 17 58475290 58475290 single base substitution G A intron_variant MELA-AU 17 58475671 58475671 single base substitution C T intron_variant MELA-AU 17 58476186 58476186 single base substitution A C intron_variant MELA-AU 17 58476318 58476318 single base substitution G A intron_variant MELA-AU 17 58476604 58476604 single base substitution G A intron_variant MELA-AU 17 58476623 58476623 single base substitution G A intron_variant MELA-AU 17 58476827 58476827 single base substitution G A intron_variant MELA-AU 17 58477167 58477167 single base substitution G A intron_variant MELA-AU 17 58477315 58477315 single base substitution G A intron_variant MELA-AU 17 58477333 58477333 single base substitution C T intron_variant MELA-AU 17 58477567 58477567 single base substitution C T intron_variant MELA-AU 17 58477713 58477713 single base substitution G A intron_variant MELA-AU 17 58477753 58477753 single base substitution G A intron_variant MELA-AU 17 58477908 58477908 single base substitution G A intron_variant MELA-AU 17 58478069 58478069 single base substitution G A intron_variant MELA-AU 17 58478294 58478294 single base substitution G A intron_variant MELA-AU 17 58478443 58478443 single base substitution G A intron_variant MELA-AU 17 58478444 58478444 single base substitution G A intron_variant MELA-AU 17 58478602 58478602 single base substitution G A intron_variant MELA-AU 17 58478614 58478614 single base substitution C T intron_variant MELA-AU 17 58478799 58478799 single base substitution G A intron_variant MELA-AU 17 58479506 58479506 insertion of <=200bp - TTAT intron_variant MELA-AU 17 58479533 58479533 single base substitution T C intron_variant MELA-AU 17 58480038 58480038 single base substitution G A intron_variant MELA-AU 17 58480138 58480138 single base substitution G C intron_variant MELA-AU 17 58480175 58480175 single base substitution G A intron_variant MELA-AU 17 58480184 58480184 single base substitution C T intron_variant MELA-AU 17 58480346 58480346 single base substitution G A intron_variant MELA-AU 17 58480921 58480922 multiple base substitution (>=2bp and <=200bp) GG AA intron_variant MELA-AU 17 58480923 58480923 single base substitution G A intron_variant MELA-AU 17 58481001 58481001 single base substitution G A intron_variant MELA-AU 17 58481029 58481029 single base substitution T C intron_variant MELA-AU 17 58481915 58481915 single base substitution G A intron_variant MELA-AU 17 58482303 58482303 single base substitution C T intron_variant MELA-AU 17 58482304 58482304 single base substitution G A intron_variant MELA-AU 17 58482336 58482336 single base substitution G A intron_variant MELA-AU 17 58482765 58482765 single base substitution C T intron_variant MELA-AU 17 58483116 58483116 single base substitution C T intron_variant MELA-AU 17 58483422 58483422 single base substitution T C intron_variant MELA-AU 17 58483542 58483542 single base substitution T C intron_variant MELA-AU 17 58484305 58484305 single base substitution G A intron_variant MELA-AU 17 58484318 58484318 single base substitution C T intron_variant MELA-AU 17 58484579 58484579 single base substitution G A intron_variant MELA-AU 17 58484662 58484662 single base substitution A G intron_variant MELA-AU 17 58484748 58484749 multiple base substitution (>=2bp and <=200bp) GG AA intron_variant MELA-AU 17 58484772 58484772 single base substitution C T intron_variant MELA-AU 17 58484808 58484808 single base substitution C T intron_variant MELA-AU 17 58485080 58485080 single base substitution T C intron_variant MELA-AU 17 58485179 58485180 multiple base substitution (>=2bp and <=200bp) CC TT intron_variant MELA-AU 17 58485470 58485470 single base substitution G A intron_variant MELA-AU 17 58485540 58485540 single base substitution G A intron_variant MELA-AU 17 58485781 58485781 single base substitution C T intron_variant MELA-AU 17 58485855 58485855 single base substitution C T intron_variant MELA-AU 17 58485932 58485932 single base substitution T C intron_variant MELA-AU 17 58485938 58485938 single base substitution C T intron_variant MELA-AU 17 58486078 58486078 single base substitution C T intron_variant MELA-AU 17 58486387 58486387 single base substitution C T intron_variant MELA-AU 17 58486394 58486394 single base substitution C T intron_variant MELA-AU 17 58486594 58486594 single base substitution C T intron_variant MELA-AU 17 58486853 58486853 single base substitution G A intron_variant MELA-AU 17 58486864 58486864 single base substitution G A intron_variant MELA-AU 17 58487024 58487024 single base substitution A G intron_variant MELA-AU 17 58487730 58487730 single base substitution C T intron_variant MELA-AU 17 58488005 58488005 single base substitution G C intron_variant MELA-AU 17 58488051 58488051 single base substitution G A intron_variant MELA-AU 17 58488241 58488243 multiple base substitution (>=2bp and <=200bp) ACC TTT intron_variant MELA-AU 17 58488448 58488448 single base substitution G A intron_variant MELA-AU 17 58488704 58488704 single base substitution A G intron_variant MELA-AU 17 58488905 58488905 single base substitution A C intron_variant MELA-AU 17 58489059 58489059 single base substitution G A intron_variant MELA-AU 17 58489313 58489313 single base substitution T C intron_variant MELA-AU 17 58489527 58489527 single base substitution C T intron_variant MELA-AU 17 58489600 58489600 single base substitution C T intron_variant MELA-AU 17 58489785 58489785 single base substitution G A intron_variant MELA-AU 17 58489821 58489821 single base substitution G A intron_variant MELA-AU 17 58489874 58489874 single base substitution T C intron_variant MELA-AU 17 58489927 58489927 single base substitution C T intron_variant MELA-AU 17 58490111 58490111 single base substitution G A intron_variant MELA-AU 17 58490219 58490219 single base substitution C T intron_variant MELA-AU 17 58490472 58490472 single base substitution G A intron_variant MELA-AU 17 58490479 58490479 single base substitution G A intron_variant MELA-AU 17 58490532 58490532 single base substitution G A intron_variant MELA-AU 17 58490543 58490543 single base substitution G A intron_variant MELA-AU 17 58490601 58490601 single base substitution C T intron_variant MELA-AU 17 58490612 58490612 single base substitution G A intron_variant MELA-AU 17 58490645 58490645 single base substitution G A intron_variant MELA-AU 17 58490673 58490673 single base substitution G A intron_variant MELA-AU 17 58490846 58490846 single base substitution G A intron_variant MELA-AU 17 58491354 58491354 single base substitution C T intron_variant MELA-AU 17 58491769 58491769 single base substitution C T intron_variant MELA-AU 17 58492079 58492079 single base substitution C T intron_variant MELA-AU 17 58492131 58492131 single base substitution T C intron_variant MELA-AU 17 58492374 58492374 single base substitution G A intron_variant MELA-AU 17 58492434 58492434 single base substitution C T intron_variant MELA-AU 17 58492480 58492480 single base substitution A C intron_variant MELA-AU 17 58492555 58492555 single base substitution C T intron_variant MELA-AU 17 58492660 58492660 single base substitution C T intron_variant MELA-AU 17 58492789 58492789 single base substitution G A intron_variant MELA-AU 17 58492860 58492860 single base substitution C T intron_variant MELA-AU 17 58493520 58493520 single base substitution G A intron_variant MELA-AU 17 58493542 58493542 single base substitution C G intron_variant MELA-AU 17 58493696 58493696 single base substitution C T downstream_gene_variant MELA-AU 17 58493696 58493696 single base substitution C T intron_variant MELA-AU 17 58493815 58493815 single base substitution C T downstream_gene_variant MELA-AU 17 58493815 58493815 single base substitution C T intron_variant MELA-AU 17 58494574 58494574 single base substitution C T downstream_gene_variant MELA-AU 17 58494574 58494574 single base substitution C T intron_variant MELA-AU 17 58494844 58494844 single base substitution C T downstream_gene_variant MELA-AU 17 58494844 58494844 single base substitution C T intron_variant MELA-AU 17 58495116 58495116 single base substitution C A downstream_gene_variant MELA-AU 17 58495116 58495116 single base substitution C A intron_variant MELA-AU 17 58495242 58495242 single base substitution C T downstream_gene_variant MELA-AU 17 58495242 58495242 single base substitution C T intron_variant MELA-AU 17 58495933 58495933 single base substitution G A downstream_gene_variant MELA-AU 17 58495933 58495933 single base substitution G A intron_variant MELA-AU 17 58496389 58496389 single base substitution G A downstream_gene_variant MELA-AU 17 58496389 58496389 single base substitution G A intron_variant MELA-AU 17 58496398 58496398 single base substitution T C downstream_gene_variant MELA-AU 17 58496398 58496398 single base substitution T C intron_variant MELA-AU 17 58496425 58496425 single base substitution C T downstream_gene_variant MELA-AU 17 58496425 58496425 single base substitution C T intron_variant MELA-AU 17 58496603 58496603 single base substitution C T downstream_gene_variant MELA-AU 17 58496603 58496603 single base substitution C T intron_variant MELA-AU 17 58496754 58496754 single base substitution C T downstream_gene_variant MELA-AU 17 58496754 58496754 single base substitution C T intron_variant MELA-AU 17 58496913 58496913 single base substitution G A downstream_gene_variant MELA-AU 17 58496913 58496913 single base substitution G A intron_variant MELA-AU 17 58497221 58497221 single base substitution A T downstream_gene_variant MELA-AU 17 58497221 58497221 single base substitution A T intron_variant MELA-AU 17 58498463 58498463 single base substitution G A downstream_gene_variant MELA-AU 17 58498463 58498463 single base substitution G A intron_variant MELA-AU 17 58498648 58498648 single base substitution A G 3_prime_UTR_variant MELA-AU 17 58498648 58498648 single base substitution A G intron_variant MELA-AU 17 58499526 58499526 single base substitution C T intron_variant MELA-AU 17 58499790 58499790 single base substitution G A 5_prime_UTR_variant MELA-AU 17 58499790 58499790 single base substitution G A upstream_gene_variant MELA-AU 17 58499844 58499845 multiple base substitution (>=2bp and <=200bp) GG AA upstream_gene_variant MELA-AU 17 58500013 58500013 single base substitution G A upstream_gene_variant MELA-AU 17 58500041 58500041 single base substitution C A upstream_gene_variant MELA-AU 17 58500386 58500386 single base substitution C T upstream_gene_variant MELA-AU 17 58501468 58501468 single base substitution A G upstream_gene_variant MELA-AU 17 58501809 58501809 single base substitution C T upstream_gene_variant MELA-AU 17 58501811 58501811 single base substitution C T upstream_gene_variant MELA-AU 17 58501855 58501855 single base substitution G A upstream_gene_variant MELA-AU 17 58501948 58501948 single base substitution C T upstream_gene_variant MELA-AU 17 58502164 58502164 single base substitution G A upstream_gene_variant MELA-AU 17 58502237 58502237 single base substitution G A upstream_gene_variant MELA-AU 17 58502268 58502268 single base substitution C T upstream_gene_variant MELA-AU 17 58502624 58502625 multiple base substitution (>=2bp and <=200bp) CC TT upstream_gene_variant MELA-AU 17 58502634 58502634 single base substitution C T upstream_gene_variant MELA-AU 17 58502791 58502791 single base substitution G A upstream_gene_variant MELA-AU 17 58503097 58503097 single base substitution G A upstream_gene_variant MELA-AU 17 58503114 58503114 single base substitution C T upstream_gene_variant MELA-AU 17 58503271 58503271 single base substitution C T upstream_gene_variant MELA-AU 17 58503367 58503367 single base substitution G A upstream_gene_variant MELA-AU 17 58503402 58503402 single base substitution G A upstream_gene_variant MELA-AU 17 58503540 58503540 single base substitution C T upstream_gene_variant MELA-AU 17 58503935 58503935 single base substitution C T upstream_gene_variant MELA-AU 17 58503950 58503950 single base substitution C T upstream_gene_variant MELA-AU 17 58503965 58503965 single base substitution C T upstream_gene_variant MELA-AU 17 58504178 58504179 multiple base substitution (>=2bp and <=200bp) GG AA upstream_gene_variant MELA-AU 17 58504285 58504285 single base substitution C T upstream_gene_variant MELA-AU 17 58504382 58504382 single base substitution C T upstream_gene_variant MELA-AU 17 58504487 58504487 single base substitution G A upstream_gene_variant MELA-AU 17 58504786 58504786 single base substitution C T upstream_gene_variant ORCA-IN 17 58270911 58270911 single base substitution C G intron_variant ORCA-IN 17 58437619 58437619 single base substitution G C intron_variant ORCA-IN 17 58443992 58443992 single base substitution T C intron_variant ORCA-IN 17 58444401 58444401 single base substitution G C intron_variant ORCA-IN 17 58448223 58448223 single base substitution G A intron_variant ORCA-IN 17 58468614 58468614 single base substitution C A intron_variant ORCA-IN 17 58472623 58472623 single base substitution C A intron_variant ORCA-IN 17 58472623 58472623 single base substitution C A upstream_gene_variant OV-AU 17 58254369 58254369 single base substitution C T downstream_gene_variant OV-AU 17 58257183 58257183 single base substitution C T downstream_gene_variant OV-AU 17 58257183 58257183 single base substitution C T intron_variant OV-AU 17 58264896 58264896 single base substitution C A intron_variant OV-AU 17 58264896 58264896 single base substitution C A upstream_gene_variant OV-AU 17 58271454 58271454 single base substitution A C intron_variant OV-AU 17 58275784 58275784 single base substitution G A synonymous_variant L1091L 3271C>T OV-AU 17 58275784 58275784 single base substitution G A synonymous_variant L761L 2281C>T OV-AU 17 58281316 58281316 single base substitution A T downstream_gene_variant OV-AU 17 58281316 58281316 single base substitution A T intron_variant OV-AU 17 58282233 58282233 single base substitution C G downstream_gene_variant OV-AU 17 58282233 58282233 single base substitution C G intron_variant OV-AU 17 58292169 58292169 single base substitution C A downstream_gene_variant OV-AU 17 58292169 58292169 single base substitution C A intron_variant OV-AU 17 58316573 58316573 single base substitution G C intron_variant OV-AU 17 58327401 58327401 single base substitution G T intron_variant OV-AU 17 58327515 58327515 single base substitution C T intron_variant OV-AU 17 58328085 58328085 single base substitution A T intron_variant OV-AU 17 58331393 58331393 single base substitution T C intron_variant OV-AU 17 58336033 58336033 single base substitution A C intron_variant OV-AU 17 58336033 58336033 single base substitution A C upstream_gene_variant OV-AU 17 58341308 58341308 single base substitution G T intron_variant OV-AU 17 58342038 58342038 single base substitution C A intron_variant OV-AU 17 58349586 58349586 single base substitution G C intron_variant OV-AU 17 58354327 58354327 single base substitution T A intron_variant OV-AU 17 58360534 58360534 single base substitution T G intron_variant OV-AU 17 58369156 58369156 single base substitution T C downstream_gene_variant OV-AU 17 58369156 58369156 single base substitution T C intron_variant OV-AU 17 58369344 58369344 single base substitution C T downstream_gene_variant OV-AU 17 58369344 58369344 single base substitution C T intron_variant OV-AU 17 58385477 58385477 single base substitution A T intron_variant OV-AU 17 58385477 58385477 single base substitution A T upstream_gene_variant OV-AU 17 58395002 58395002 single base substitution C G intron_variant OV-AU 17 58395254 58395254 single base substitution G A intron_variant OV-AU 17 58400083 58400083 single base substitution G A intron_variant OV-AU 17 58409971 58409971 single base substitution T A intron_variant OV-AU 17 58413176 58413176 single base substitution C G intron_variant OV-AU 17 58415975 58415975 single base substitution C T intron_variant OV-AU 17 58416088 58416088 single base substitution C G intron_variant OV-AU 17 58430878 58430878 single base substitution G T intron_variant OV-AU 17 58437018 58437018 single base substitution A C intron_variant OV-AU 17 58440650 58440650 single base substitution T G intron_variant OV-AU 17 58445807 58445807 single base substitution C G intron_variant OV-AU 17 58447630 58447630 single base substitution G C intron_variant OV-AU 17 58448142 58448142 single base substitution A G intron_variant OV-AU 17 58460857 58460857 single base substitution C T intron_variant OV-AU 17 58470584 58470584 single base substitution G C intron_variant OV-AU 17 58470584 58470584 single base substitution G C upstream_gene_variant OV-AU 17 58474806 58474806 single base substitution C A intron_variant OV-AU 17 58479540 58479540 single base substitution T A intron_variant OV-AU 17 58485577 58485577 single base substitution A G intron_variant OV-AU 17 58490305 58490305 single base substitution A G intron_variant OV-AU 17 58502507 58502507 single base substitution A T upstream_gene_variant OV-AU 17 58504669 58504669 single base substitution T C upstream_gene_variant PACA-AU 17 58251833 58251833 single base substitution A G downstream_gene_variant PACA-AU 17 58256428 58256428 single base substitution G C downstream_gene_variant PACA-AU 17 58260649 58260649 single base substitution C G exon_variant PACA-AU 17 58260649 58260649 single base substitution C G missense_variant E1004Q 3010G>C PACA-AU 17 58260649 58260649 single base substitution C G missense_variant E1334Q 4000G>C PACA-AU 17 58260649 58260649 single base substitution C G upstream_gene_variant PACA-AU 17 58260791 58260791 single base substitution T C exon_variant PACA-AU 17 58260791 58260791 single base substitution T C synonymous_variant Q1286Q 3858A>G PACA-AU 17 58260791 58260791 single base substitution T C synonymous_variant Q956Q 2868A>G PACA-AU 17 58260791 58260791 single base substitution T C upstream_gene_variant PACA-AU 17 58262979 58262979 single base substitution G A exon_variant PACA-AU 17 58262979 58262979 single base substitution G A missense_variant R1226W 3676C>T PACA-AU 17 58262979 58262979 single base substitution G A missense_variant R896W 2686C>T PACA-AU 17 58262979 58262979 single base substitution G A upstream_gene_variant PACA-AU 17 58267079 58267079 single base substitution C G intron_variant PACA-AU 17 58267079 58267079 single base substitution C G upstream_gene_variant PACA-AU 17 58269162 58269162 single base substitution G A intron_variant PACA-AU 17 58279881 58279881 single base substitution C T intron_variant PACA-AU 17 58281575 58281575 single base substitution A G downstream_gene_variant PACA-AU 17 58281575 58281575 single base substitution A G intron_variant PACA-AU 17 58283164 58283164 single base substitution T G downstream_gene_variant PACA-AU 17 58283164 58283164 single base substitution T G intron_variant PACA-AU 17 58287622 58287622 single base substitution G A downstream_gene_variant PACA-AU 17 58287622 58287622 single base substitution G A intron_variant PACA-AU 17 58287622 58287622 single base substitution G A upstream_gene_variant PACA-AU 17 58291521 58291521 single base substitution T G intron_variant PACA-AU 17 58312287 58312287 single base substitution C G intron_variant PACA-AU 17 58323680 58323680 single base substitution C T downstream_gene_variant PACA-AU 17 58323680 58323680 single base substitution C T intron_variant PACA-AU 17 58330062 58330068 deletion of <=200bp GCGAAAG - intron_variant PACA-AU 17 58332850 58332850 deletion of <=200bp G - intron_variant PACA-AU 17 58335407 58335424 deletion of <=200bp AGCAAGCAGATAAGATGA - intron_variant PACA-AU 17 58335407 58335424 deletion of <=200bp AGCAAGCAGATAAGATGA - upstream_gene_variant PACA-AU 17 58335628 58335628 single base substitution G A intron_variant PACA-AU 17 58335628 58335628 single base substitution G A upstream_gene_variant PACA-AU 17 58345412 58345412 single base substitution T A intron_variant PACA-AU 17 58346518 58346518 single base substitution A C intron_variant PACA-AU 17 58349414 58349414 single base substitution A G intron_variant PACA-AU 17 58355674 58355676 deletion of <=200bp ATT - intron_variant PACA-AU 17 58360042 58360042 single base substitution C G intron_variant PACA-AU 17 58365189 58365189 single base substitution C G intron_variant PACA-AU 17 58369447 58369447 single base substitution G C downstream_gene_variant PACA-AU 17 58369447 58369447 single base substitution G C intron_variant PACA-AU 17 58371872 58371872 insertion of <=200bp - T downstream_gene_variant PACA-AU 17 58371872 58371872 insertion of <=200bp - T intron_variant PACA-AU 17 58376527 58376527 deletion of <=200bp A - downstream_gene_variant PACA-AU 17 58376527 58376527 deletion of <=200bp A - intron_variant PACA-AU 17 58378502 58378502 single base substitution T A downstream_gene_variant PACA-AU 17 58378502 58378502 single base substitution T A intron_variant PACA-AU 17 58378997 58378997 single base substitution G A exon_variant PACA-AU 17 58378997 58378997 single base substitution G A intron_variant PACA-AU 17 58378997 58378997 single base substitution G A synonymous_variant V101V 303C>T PACA-AU 17 58378997 58378997 single base substitution G A synonymous_variant V82V 246C>T PACA-AU 17 58378997 58378997 single base substitution G A synonymous_variant V85V 255C>T PACA-AU 17 58379482 58379482 single base substitution A G intron_variant PACA-AU 17 58383888 58383913 deletion of <=200bp ACTTGAGAGGCTGAGGCAGGAGAATC - intron_variant PACA-AU 17 58383888 58383913 deletion of <=200bp ACTTGAGAGGCTGAGGCAGGAGAATC - upstream_gene_variant PACA-AU 17 58390017 58390017 deletion of <=200bp A - intron_variant PACA-AU 17 58396395 58396395 single base substitution T C intron_variant PACA-AU 17 58398413 58398413 insertion of <=200bp - CTAACTCT intron_variant PACA-AU 17 58401537 58401537 single base substitution G T intron_variant PACA-AU 17 58402701 58402701 single base substitution C T intron_variant PACA-AU 17 58405067 58405067 single base substitution C T intron_variant PACA-AU 17 58405093 58405093 single base substitution C A intron_variant PACA-AU 17 58405203 58405203 single base substitution C G intron_variant PACA-AU 17 58405310 58405310 single base substitution C G intron_variant PACA-AU 17 58407633 58407633 single base substitution C T intron_variant PACA-AU 17 58409156 58409156 single base substitution G A intron_variant PACA-AU 17 58409627 58409627 single base substitution G A intron_variant PACA-AU 17 58415400 58415400 single base substitution G A intron_variant PACA-AU 17 58420159 58420159 single base substitution G A intron_variant PACA-AU 17 58422932 58422932 single base substitution G T exon_variant PACA-AU 17 58422932 58422932 single base substitution G T missense_variant F29L 87C>A PACA-AU 17 58422932 58422932 single base substitution G T missense_variant F32L 96C>A PACA-AU 17 58422932 58422932 single base substitution G T missense_variant F48L 144C>A PACA-AU 17 58439226 58439226 insertion of <=200bp - TA intron_variant PACA-AU 17 58447713 58447713 single base substitution C A intron_variant PACA-AU 17 58448430 58448430 insertion of <=200bp - A intron_variant PACA-AU 17 58450546 58450546 single base substitution C A intron_variant PACA-AU 17 58451449 58451449 single base substitution G A intron_variant PACA-AU 17 58458475 58458475 single base substitution G T intron_variant PACA-AU 17 58465103 58465103 single base substitution A C intron_variant PACA-AU 17 58472115 58472115 single base substitution A T intron_variant PACA-AU 17 58472115 58472115 single base substitution A T upstream_gene_variant PACA-AU 17 58476805 58476805 single base substitution C T intron_variant PACA-AU 17 58476862 58476862 single base substitution T A intron_variant PACA-AU 17 58478603 58478603 single base substitution C T intron_variant PACA-AU 17 58480383 58480383 single base substitution T G intron_variant PACA-AU 17 58480950 58480950 single base substitution T C intron_variant PACA-AU 17 58481728 58481728 single base substitution T G intron_variant PACA-AU 17 58482975 58482975 single base substitution A T intron_variant PACA-AU 17 58483608 58483608 single base substitution C T intron_variant PACA-AU 17 58486159 58486159 single base substitution T G intron_variant PACA-AU 17 58486475 58486475 single base substitution G T intron_variant PACA-AU 17 58486476 58486476 single base substitution A T intron_variant PACA-AU 17 58492120 58492120 single base substitution T C intron_variant PACA-AU 17 58497644 58497644 single base substitution C T downstream_gene_variant PACA-AU 17 58497644 58497644 single base substitution C T intron_variant PACA-CA 17 58255269 58255269 single base substitution A C downstream_gene_variant PACA-CA 17 58258668 58258668 single base substitution T C downstream_gene_variant PACA-CA 17 58258668 58258668 single base substitution T C intron_variant PACA-CA 17 58259738 58259738 single base substitution G A downstream_gene_variant PACA-CA 17 58259738 58259738 single base substitution G A intron_variant PACA-CA 17 58259738 58259738 single base substitution G A upstream_gene_variant PACA-CA 17 58259957 58259957 single base substitution C A downstream_gene_variant PACA-CA 17 58259957 58259957 single base substitution C A intron_variant PACA-CA 17 58259957 58259957 single base substitution C A upstream_gene_variant PACA-CA 17 58263413 58263413 insertion of <=200bp - A intron_variant PACA-CA 17 58263413 58263413 insertion of <=200bp - A upstream_gene_variant PACA-CA 17 58265496 58265496 single base substitution C A intron_variant PACA-CA 17 58265496 58265496 single base substitution C A upstream_gene_variant PACA-CA 17 58267082 58267082 single base substitution A C intron_variant PACA-CA 17 58267082 58267082 single base substitution A C upstream_gene_variant PACA-CA 17 58269653 58269653 single base substitution A G intron_variant PACA-CA 17 58271969 58271969 single base substitution A G intron_variant PACA-CA 17 58277331 58277331 single base substitution C T intron_variant PACA-CA 17 58279734 58279734 single base substitution C T intron_variant PACA-CA 17 58285380 58285386 deletion of <=200bp GAGGATA - downstream_gene_variant PACA-CA 17 58285380 58285386 deletion of <=200bp GAGGATA - exon_variant PACA-CA 17 58285380 58285386 deletion of <=200bp GAGGATA - intron_variant PACA-CA 17 58285542 58285542 single base substitution G A downstream_gene_variant PACA-CA 17 58285542 58285542 single base substitution G A exon_variant PACA-CA 17 58285542 58285542 single base substitution G A missense_variant R605W 1813C>T PACA-CA 17 58285542 58285542 single base substitution G A missense_variant R935W 2803C>T PACA-CA 17 58287434 58287434 single base substitution A C downstream_gene_variant PACA-CA 17 58287434 58287434 single base substitution A C intron_variant PACA-CA 17 58287434 58287434 single base substitution A C upstream_gene_variant PACA-CA 17 58287736 58287736 single base substitution G A downstream_gene_variant PACA-CA 17 58287736 58287736 single base substitution G A intron_variant PACA-CA 17 58287736 58287736 single base substitution G A upstream_gene_variant PACA-CA 17 58290235 58290235 single base substitution T C downstream_gene_variant PACA-CA 17 58290235 58290235 single base substitution T C intron_variant PACA-CA 17 58290235 58290235 single base substitution T C upstream_gene_variant PACA-CA 17 58291321 58291321 single base substitution A T intron_variant PACA-CA 17 58293855 58293855 single base substitution A C downstream_gene_variant PACA-CA 17 58293855 58293855 single base substitution A C intron_variant PACA-CA 17 58297760 58297760 single base substitution T A intron_variant PACA-CA 17 58298035 58298035 single base substitution C T intron_variant PACA-CA 17 58298722 58298722 single base substitution C G downstream_gene_variant PACA-CA 17 58298722 58298722 single base substitution C G intron_variant PACA-CA 17 58308762 58308762 deletion of <=200bp A - intron_variant PACA-CA 17 58308917 58308917 single base substitution C T intron_variant PACA-CA 17 58309690 58309690 single base substitution C T intron_variant PACA-CA 17 58313843 58313843 deletion of <=200bp A - intron_variant PACA-CA 17 58315207 58315207 single base substitution G A intron_variant PACA-CA 17 58315325 58315325 single base substitution G A intron_variant PACA-CA 17 58315359 58315359 single base substitution C T intron_variant PACA-CA 17 58315633 58315633 single base substitution G A intron_variant PACA-CA 17 58315695 58315695 insertion of <=200bp - T intron_variant PACA-CA 17 58315880 58315880 deletion of <=200bp T - intron_variant PACA-CA 17 58320169 58320169 single base substitution G T intron_variant PACA-CA 17 58323256 58323256 single base substitution A G downstream_gene_variant PACA-CA 17 58323256 58323256 single base substitution A G intron_variant PACA-CA 17 58323760 58323760 single base substitution G A downstream_gene_variant PACA-CA 17 58323760 58323760 single base substitution G A intron_variant PACA-CA 17 58335783 58335783 single base substitution G A intron_variant PACA-CA 17 58335783 58335783 single base substitution G A upstream_gene_variant PACA-CA 17 58338359 58338359 single base substitution C T intron_variant PACA-CA 17 58338359 58338359 single base substitution C T upstream_gene_variant PACA-CA 17 58341060 58341060 single base substitution T C intron_variant PACA-CA 17 58342730 58342730 single base substitution T C intron_variant PACA-CA 17 58347325 58347325 single base substitution A G intron_variant PACA-CA 17 58347336 58347336 single base substitution C G intron_variant PACA-CA 17 58347336 58347336 single base substitution C T intron_variant PACA-CA 17 58350644 58350644 single base substitution C T intron_variant PACA-CA 17 58353466 58353466 single base substitution G A intron_variant PACA-CA 17 58361983 58361983 single base substitution T C intron_variant PACA-CA 17 58367079 58367079 single base substitution A G downstream_gene_variant PACA-CA 17 58367079 58367079 single base substitution A G intron_variant PACA-CA 17 58367217 58367217 single base substitution C A downstream_gene_variant PACA-CA 17 58367217 58367217 single base substitution C A intron_variant PACA-CA 17 58369707 58369707 single base substitution C A downstream_gene_variant PACA-CA 17 58369707 58369707 single base substitution C A intron_variant PACA-CA 17 58375847 58375847 single base substitution A G downstream_gene_variant PACA-CA 17 58375847 58375847 single base substitution A G intron_variant PACA-CA 17 58383750 58383750 single base substitution G A intron_variant PACA-CA 17 58383750 58383750 single base substitution G A upstream_gene_variant PACA-CA 17 58387922 58387922 single base substitution T C intron_variant PACA-CA 17 58388610 58388610 single base substitution A C intron_variant PACA-CA 17 58390500 58390500 single base substitution T C intron_variant PACA-CA 17 58392495 58392495 single base substitution A G intron_variant PACA-CA 17 58397182 58397182 single base substitution A G intron_variant PACA-CA 17 58398871 58398871 single base substitution T G intron_variant PACA-CA 17 58414904 58414904 single base substitution G A intron_variant PACA-CA 17 58419705 58419705 single base substitution C G intron_variant PACA-CA 17 58422804 58422804 single base substitution T A intron_variant PACA-CA 17 58423970 58423970 insertion of <=200bp - T intron_variant PACA-CA 17 58424949 58424949 single base substitution C T intron_variant PACA-CA 17 58427359 58427359 single base substitution C T intron_variant PACA-CA 17 58427489 58427489 single base substitution T C intron_variant PACA-CA 17 58430286 58430286 single base substitution C G intron_variant PACA-CA 17 58432327 58432327 single base substitution C A intron_variant PACA-CA 17 58433868 58433868 single base substitution C T intron_variant PACA-CA 17 58435852 58435852 single base substitution T C intron_variant PACA-CA 17 58436939 58436939 single base substitution A C intron_variant PACA-CA 17 58437905 58437905 single base substitution A T intron_variant PACA-CA 17 58439225 58439225 insertion of <=200bp - TA intron_variant PACA-CA 17 58439554 58439554 insertion of <=200bp - A intron_variant PACA-CA 17 58443709 58443709 single base substitution G A intron_variant PACA-CA 17 58445577 58445577 single base substitution C T intron_variant PACA-CA 17 58450050 58450050 single base substitution A G intron_variant PACA-CA 17 58451919 58451919 single base substitution G T intron_variant PACA-CA 17 58452427 58452427 single base substitution C G intron_variant PACA-CA 17 58452996 58452996 single base substitution G A intron_variant PACA-CA 17 58456117 58456117 single base substitution T C intron_variant PACA-CA 17 58457197 58457198 deletion of <=200bp AC - intron_variant PACA-CA 17 58460591 58460591 single base substitution C T intron_variant PACA-CA 17 58465114 58465114 single base substitution T C intron_variant PACA-CA 17 58466848 58466848 single base substitution G A intron_variant PACA-CA 17 58468520 58468520 single base substitution G A intron_variant PACA-CA 17 58470211 58470211 single base substitution C A intron_variant PACA-CA 17 58470211 58470211 single base substitution C A upstream_gene_variant PACA-CA 17 58471287 58471287 single base substitution C T intron_variant PACA-CA 17 58471287 58471287 single base substitution C T upstream_gene_variant PACA-CA 17 58476955 58476955 single base substitution T C intron_variant PACA-CA 17 58477475 58477475 single base substitution G A intron_variant PACA-CA 17 58479935 58479935 single base substitution C T intron_variant PACA-CA 17 58481567 58481568 deletion of <=200bp AG - intron_variant PACA-CA 17 58482276 58482276 single base substitution G A intron_variant PACA-CA 17 58482595 58482595 single base substitution G A intron_variant PACA-CA 17 58486431 58486431 single base substitution G A intron_variant PACA-CA 17 58486483 58486483 single base substitution C T intron_variant PACA-CA 17 58487423 58487423 single base substitution A T intron_variant PACA-CA 17 58488311 58488311 single base substitution G A intron_variant PACA-CA 17 58496938 58496938 deletion of <=200bp A - downstream_gene_variant PACA-CA 17 58496938 58496938 deletion of <=200bp A - intron_variant PACA-CA 17 58498396 58498396 single base substitution G T downstream_gene_variant PACA-CA 17 58498396 58498396 single base substitution G T intron_variant PACA-CA 17 58498870 58498870 single base substitution C T intron_variant PACA-CA 17 58498870 58498870 single base substitution C T missense_variant G45E 134G>A PACA-CA 17 58501946 58501946 single base substitution T A upstream_gene_variant PAEN-AU 17 58269639 58269639 single base substitution G A intron_variant PAEN-AU 17 58298057 58298057 single base substitution T G intron_variant PAEN-AU 17 58356852 58356852 single base substitution G A intron_variant PAEN-AU 17 58403619 58403619 single base substitution C T intron_variant PAEN-AU 17 58451330 58451330 single base substitution G A intron_variant PAEN-IT 17 58280206 58280206 single base substitution T C downstream_gene_variant PAEN-IT 17 58280206 58280206 single base substitution T C intron_variant PAEN-IT 17 58302831 58302831 single base substitution G C downstream_gene_variant PAEN-IT 17 58302831 58302831 single base substitution G C intron_variant PAEN-IT 17 58305201 58305201 single base substitution G A intron_variant PAEN-IT 17 58305201 58305201 single base substitution G A upstream_gene_variant PAEN-IT 17 58322314 58322314 single base substitution T C downstream_gene_variant PAEN-IT 17 58322314 58322314 single base substitution T C intron_variant PAEN-IT 17 58333582 58333582 single base substitution G C intron_variant PAEN-IT 17 58344886 58344886 single base substitution T A intron_variant PAEN-IT 17 58409060 58409060 single base substitution C T intron_variant PAEN-IT 17 58434678 58434678 single base substitution G C intron_variant PAEN-IT 17 58480098 58480098 single base substitution C T intron_variant PAEN-IT 17 58490458 58490458 single base substitution T A intron_variant PBCA-DE 17 58264302 58264302 single base substitution G T intron_variant PBCA-DE 17 58264302 58264302 single base substitution G T upstream_gene_variant PBCA-DE 17 58266919 58266919 single base substitution T C intron_variant PBCA-DE 17 58266919 58266919 single base substitution T C upstream_gene_variant PBCA-DE 17 58269278 58269278 single base substitution C T intron_variant PBCA-DE 17 58279805 58279806 deletion of <=200bp CA - intron_variant PBCA-DE 17 58288083 58288083 single base substitution A G downstream_gene_variant PBCA-DE 17 58288083 58288083 single base substitution A G intron_variant PBCA-DE 17 58288083 58288083 single base substitution A G upstream_gene_variant PBCA-DE 17 58323761 58323764 deletion of <=200bp TATA - downstream_gene_variant PBCA-DE 17 58323761 58323764 deletion of <=200bp TATA - intron_variant PBCA-DE 17 58323778 58323778 single base substitution T A downstream_gene_variant PBCA-DE 17 58323778 58323778 single base substitution T A intron_variant PBCA-DE 17 58335597 58335597 single base substitution C T intron_variant PBCA-DE 17 58335597 58335597 single base substitution C T upstream_gene_variant PBCA-DE 17 58341893 58341893 deletion of <=200bp A - intron_variant PBCA-DE 17 58354308 58354309 deletion of <=200bp AT - intron_variant PBCA-DE 17 58361337 58361337 single base substitution A G intron_variant PBCA-DE 17 58362334 58362334 single base substitution G A intron_variant PBCA-DE 17 58371745 58371746 deletion of <=200bp GT - downstream_gene_variant PBCA-DE 17 58371745 58371746 deletion of <=200bp GT - intron_variant PBCA-DE 17 58382941 58382941 single base substitution A G intron_variant PBCA-DE 17 58382941 58382941 single base substitution A G upstream_gene_variant PBCA-DE 17 58399082 58399084 deletion of <=200bp AAC - intron_variant PBCA-DE 17 58404734 58404734 single base substitution A C intron_variant PBCA-DE 17 58418455 58418455 deletion of <=200bp C - intron_variant PBCA-DE 17 58418552 58418552 insertion of <=200bp - TAT intron_variant PBCA-DE 17 58420674 58420674 single base substitution C T intron_variant PBCA-DE 17 58427075 58427075 single base substitution A T intron_variant PBCA-DE 17 58429173 58429173 single base substitution G T intron_variant PBCA-DE 17 58439555 58439555 single base substitution A T intron_variant PBCA-DE 17 58443581 58443581 single base substitution G A intron_variant PBCA-DE 17 58451109 58451109 single base substitution C T intron_variant PBCA-DE 17 58452560 58452560 single base substitution C T intron_variant PBCA-DE 17 58456284 58456285 deletion of <=200bp TA - intron_variant PBCA-DE 17 58463380 58463381 deletion of <=200bp AC - intron_variant PBCA-DE 17 58465651 58465652 deletion of <=200bp AC - intron_variant PBCA-DE 17 58465864 58465864 single base substitution G T intron_variant PBCA-DE 17 58468407 58468407 single base substitution T C intron_variant PBCA-DE 17 58469348 58469348 single base substitution A C 5_prime_UTR_variant PBCA-DE 17 58469348 58469348 single base substitution A C intron_variant PBCA-DE 17 58469348 58469348 single base substitution A C upstream_gene_variant PBCA-DE 17 58479891 58479891 single base substitution A G intron_variant PBCA-DE 17 58487221 58487221 single base substitution C A intron_variant PBCA-DE 17 58488169 58488169 single base substitution C T intron_variant PBCA-DE 17 58495005 58495005 single base substitution G T downstream_gene_variant PBCA-DE 17 58495005 58495005 single base substitution G T intron_variant PRAD-CA 17 58262615 58262615 single base substitution T C intron_variant PRAD-CA 17 58262615 58262615 single base substitution T C upstream_gene_variant PRAD-CA 17 58284125 58284125 single base substitution T C downstream_gene_variant PRAD-CA 17 58284125 58284125 single base substitution T C intron_variant PRAD-CA 17 58298116 58298116 single base substitution C T intron_variant PRAD-CA 17 58343689 58343689 single base substitution C A intron_variant PRAD-CA 17 58374822 58374822 single base substitution C T downstream_gene_variant PRAD-CA 17 58374822 58374822 single base substitution C T intron_variant PRAD-CA 17 58405459 58405459 single base substitution G A intron_variant PRAD-CA 17 58410252 58410252 single base substitution T G intron_variant PRAD-CA 17 58423887 58423887 single base substitution T C intron_variant PRAD-CA 17 58463775 58463775 single base substitution A C intron_variant PRAD-CA 17 58479087 58479087 single base substitution G A intron_variant PRAD-CA 17 58481197 58481197 single base substitution T G intron_variant PRAD-UK 17 58255149 58255149 single base substitution A C downstream_gene_variant PRAD-UK 17 58259921 58259921 single base substitution C T downstream_gene_variant PRAD-UK 17 58259921 58259921 single base substitution C T intron_variant PRAD-UK 17 58259921 58259921 single base substitution C T upstream_gene_variant PRAD-UK 17 58266058 58266058 single base substitution A G intron_variant PRAD-UK 17 58266058 58266058 single base substitution A G upstream_gene_variant PRAD-UK 17 58287092 58287092 single base substitution C A downstream_gene_variant PRAD-UK 17 58287092 58287092 single base substitution C A intron_variant PRAD-UK 17 58287092 58287092 single base substitution C A upstream_gene_variant PRAD-UK 17 58293627 58293627 single base substitution G T downstream_gene_variant PRAD-UK 17 58293627 58293627 single base substitution G T intron_variant PRAD-UK 17 58294733 58294733 single base substitution G T downstream_gene_variant PRAD-UK 17 58294733 58294733 single base substitution G T intron_variant PRAD-UK 17 58298851 58298851 single base substitution A G downstream_gene_variant PRAD-UK 17 58298851 58298851 single base substitution A G intron_variant PRAD-UK 17 58328234 58328234 single base substitution A G intron_variant PRAD-UK 17 58332100 58332101 deletion of <=200bp AA - intron_variant PRAD-UK 17 58337073 58337073 single base substitution T C intron_variant PRAD-UK 17 58337073 58337073 single base substitution T C upstream_gene_variant PRAD-UK 17 58381738 58381738 single base substitution G A intron_variant PRAD-UK 17 58381747 58381747 single base substitution A C intron_variant PRAD-UK 17 58387772 58387772 insertion of <=200bp - A intron_variant PRAD-UK 17 58387778 58387778 insertion of <=200bp - A intron_variant PRAD-UK 17 58408143 58408143 single base substitution T C intron_variant PRAD-UK 17 58411759 58411759 single base substitution C T intron_variant PRAD-UK 17 58416857 58416857 single base substitution T C intron_variant PRAD-UK 17 58417170 58417170 single base substitution T A intron_variant PRAD-UK 17 58422695 58422695 single base substitution A C intron_variant PRAD-UK 17 58425740 58425740 single base substitution T A intron_variant PRAD-UK 17 58428062 58428062 single base substitution C T intron_variant PRAD-UK 17 58428063 58428064 deletion of <=200bp CT - intron_variant PRAD-UK 17 58428064 58428064 single base substitution T C intron_variant PRAD-UK 17 58450371 58450392 deletion of <=200bp CAAAAAAATCAGCCAGGTATGG - intron_variant PRAD-UK 17 58455646 58455646 single base substitution C G intron_variant PRAD-UK 17 58457303 58457303 insertion of <=200bp - A intron_variant PRAD-UK 17 58463107 58463107 single base substitution G A intron_variant PRAD-UK 17 58463739 58463739 single base substitution A T intron_variant PRAD-UK 17 58475702 58475702 single base substitution C T intron_variant PRAD-UK 17 58491404 58491404 single base substitution C G intron_variant PRAD-UK 17 58494445 58494445 single base substitution A C downstream_gene_variant PRAD-UK 17 58494445 58494445 single base substitution A C intron_variant PRAD-US 17 58300782 58300782 single base substitution T G downstream_gene_variant PRAD-US 17 58300782 58300782 single base substitution T G exon_variant PRAD-US 17 58300782 58300782 single base substitution T G intron_variant PRAD-US 17 58300782 58300782 single base substitution T G missense_variant E203A 608A>C PRAD-US 17 58300782 58300782 single base substitution T G missense_variant E530A 1589A>C PRAD-US 17 58300782 58300782 single base substitution T G missense_variant E533A 1598A>C PRAD-US 17 58300782 58300782 single base substitution T G missense_variant E64A 191A>C READ-US 17 58365981 58365981 single base substitution A C intron_variant READ-US 17 58365981 58365981 single base substitution A C synonymous_variant T155T 465T>G READ-US 17 58365981 58365981 single base substitution A C synonymous_variant T158T 474T>G READ-US 17 58503559 58503559 single base substitution G A upstream_gene_variant RECA-EU 17 58268526 58268526 single base substitution G A intron_variant RECA-EU 17 58272329 58272329 single base substitution A T intron_variant RECA-EU 17 58274970 58274970 single base substitution G A intron_variant RECA-EU 17 58282480 58282480 single base substitution A T downstream_gene_variant RECA-EU 17 58282480 58282480 single base substitution A T intron_variant RECA-EU 17 58288545 58288545 single base substitution A G downstream_gene_variant RECA-EU 17 58288545 58288545 single base substitution A G intron_variant RECA-EU 17 58288545 58288545 single base substitution A G upstream_gene_variant RECA-EU 17 58291772 58291772 single base substitution A G intron_variant RECA-EU 17 58293190 58293190 single base substitution C T downstream_gene_variant RECA-EU 17 58293190 58293190 single base substitution C T intron_variant RECA-EU 17 58301177 58301177 single base substitution C T downstream_gene_variant RECA-EU 17 58301177 58301177 single base substitution C T intron_variant RECA-EU 17 58308269 58308269 single base substitution T A intron_variant RECA-EU 17 58308269 58308269 single base substitution T A upstream_gene_variant RECA-EU 17 58313486 58313486 single base substitution G C intron_variant RECA-EU 17 58314043 58314043 single base substitution G A intron_variant RECA-EU 17 58319905 58319905 single base substitution G T intron_variant RECA-EU 17 58329902 58329902 single base substitution A G intron_variant RECA-EU 17 58335525 58335525 single base substitution A G intron_variant RECA-EU 17 58335525 58335525 single base substitution A G upstream_gene_variant RECA-EU 17 58349034 58349034 single base substitution A T intron_variant RECA-EU 17 58354680 58354680 single base substitution G C intron_variant RECA-EU 17 58367671 58367671 single base substitution G A downstream_gene_variant RECA-EU 17 58367671 58367671 single base substitution G A intron_variant RECA-EU 17 58375574 58375574 single base substitution G C downstream_gene_variant RECA-EU 17 58375574 58375574 single base substitution G C intron_variant RECA-EU 17 58388645 58388645 single base substitution G C intron_variant RECA-EU 17 58408351 58408351 single base substitution T A intron_variant RECA-EU 17 58447167 58447167 single base substitution T A intron_variant RECA-EU 17 58448954 58448954 single base substitution C T intron_variant RECA-EU 17 58468832 58468832 single base substitution G A intron_variant RECA-EU 17 58497835 58497835 single base substitution C T downstream_gene_variant RECA-EU 17 58497835 58497835 single base substitution C T intron_variant SKCA-BR 17 58253366 58253366 single base substitution G A downstream_gene_variant SKCA-BR 17 58256185 58256185 single base substitution A G downstream_gene_variant SKCA-BR 17 58256378 58256378 single base substitution G A downstream_gene_variant SKCA-BR 17 58258228 58258231 deletion of <=200bp CTAT - downstream_gene_variant SKCA-BR 17 58258228 58258231 deletion of <=200bp CTAT - intron_variant SKCA-BR 17 58258362 58258362 single base substitution G A downstream_gene_variant SKCA-BR 17 58258362 58258362 single base substitution G A intron_variant SKCA-BR 17 58259021 58259021 single base substitution C T downstream_gene_variant SKCA-BR 17 58259021 58259021 single base substitution C T synonymous_variant R1074R 3222G>A SKCA-BR 17 58259021 58259021 single base substitution C T synonymous_variant R1404R 4212G>A SKCA-BR 17 58259021 58259021 single base substitution C T synonymous_variant R4R 12G>A SKCA-BR 17 58260745 58260745 single base substitution G A exon_variant SKCA-BR 17 58260745 58260745 single base substitution G A missense_variant P1302S 3904C>T SKCA-BR 17 58260745 58260745 single base substitution G A missense_variant P972S 2914C>T SKCA-BR 17 58260745 58260745 single base substitution G A upstream_gene_variant SKCA-BR 17 58260910 58260910 single base substitution G A intron_variant SKCA-BR 17 58260910 58260910 single base substitution G A upstream_gene_variant SKCA-BR 17 58262081 58262081 single base substitution G A intron_variant SKCA-BR 17 58262081 58262081 single base substitution G A upstream_gene_variant SKCA-BR 17 58264706 58264706 single base substitution G A intron_variant SKCA-BR 17 58264706 58264706 single base substitution G A upstream_gene_variant SKCA-BR 17 58267981 58267981 single base substitution G A synonymous_variant I1195I 3585C>T SKCA-BR 17 58267981 58267981 single base substitution G A synonymous_variant I865I 2595C>T SKCA-BR 17 58267981 58267981 single base substitution G A upstream_gene_variant SKCA-BR 17 58273561 58273561 single base substitution G A intron_variant SKCA-BR 17 58277701 58277701 single base substitution T C intron_variant SKCA-BR 17 58279804 58279804 insertion of <=200bp - TCACA intron_variant SKCA-BR 17 58284665 58284665 single base substitution G A downstream_gene_variant SKCA-BR 17 58284665 58284665 single base substitution G A intron_variant SKCA-BR 17 58288006 58288006 single base substitution C T downstream_gene_variant SKCA-BR 17 58288006 58288006 single base substitution C T intron_variant SKCA-BR 17 58288006 58288006 single base substitution C T upstream_gene_variant SKCA-BR 17 58288058 58288058 single base substitution T A downstream_gene_variant SKCA-BR 17 58288058 58288058 single base substitution T A intron_variant SKCA-BR 17 58288058 58288058 single base substitution T A upstream_gene_variant SKCA-BR 17 58288203 58288204 deletion of <=200bp TA - downstream_gene_variant SKCA-BR 17 58288203 58288204 deletion of <=200bp TA - intron_variant SKCA-BR 17 58288203 58288204 deletion of <=200bp TA - upstream_gene_variant SKCA-BR 17 58289040 58289040 single base substitution G A downstream_gene_variant SKCA-BR 17 58289040 58289040 single base substitution G A intron_variant SKCA-BR 17 58289040 58289040 single base substitution G A upstream_gene_variant SKCA-BR 17 58290123 58290123 single base substitution T G downstream_gene_variant SKCA-BR 17 58290123 58290123 single base substitution T G intron_variant SKCA-BR 17 58290123 58290123 single base substitution T G upstream_gene_variant SKCA-BR 17 58291802 58291802 single base substitution T C intron_variant SKCA-BR 17 58300709 58300709 single base substitution G A downstream_gene_variant SKCA-BR 17 58300709 58300709 single base substitution G A intron_variant SKCA-BR 17 58301257 58301257 single base substitution G A downstream_gene_variant SKCA-BR 17 58301257 58301257 single base substitution G A intron_variant SKCA-BR 17 58302193 58302193 single base substitution C T downstream_gene_variant SKCA-BR 17 58302193 58302193 single base substitution C T intron_variant SKCA-BR 17 58304624 58304637 deletion of <=200bp CTTTTTTTCTTTTT - intron_variant SKCA-BR 17 58304624 58304637 deletion of <=200bp CTTTTTTTCTTTTT - upstream_gene_variant SKCA-BR 17 58304764 58304764 single base substitution G A intron_variant SKCA-BR 17 58304764 58304764 single base substitution G A upstream_gene_variant SKCA-BR 17 58305861 58305862 deletion of <=200bp TC - intron_variant SKCA-BR 17 58305861 58305862 deletion of <=200bp TC - upstream_gene_variant SKCA-BR 17 58306323 58306323 single base substitution T A intron_variant SKCA-BR 17 58306323 58306323 single base substitution T A upstream_gene_variant SKCA-BR 17 58309529 58309529 single base substitution C T intron_variant SKCA-BR 17 58309535 58309535 insertion of <=200bp - TC intron_variant SKCA-BR 17 58310897 58310897 single base substitution G A intron_variant SKCA-BR 17 58313873 58313873 insertion of <=200bp - CAATT intron_variant SKCA-BR 17 58314665 58314666 deletion of <=200bp AT - intron_variant SKCA-BR 17 58317834 58317834 single base substitution G A intron_variant SKCA-BR 17 58320868 58320868 single base substitution G A intron_variant SKCA-BR 17 58320948 58320948 single base substitution G A intron_variant SKCA-BR 17 58323094 58323094 single base substitution C A downstream_gene_variant SKCA-BR 17 58323094 58323094 single base substitution C A intron_variant SKCA-BR 17 58324840 58324840 single base substitution C T downstream_gene_variant SKCA-BR 17 58324840 58324840 single base substitution C T intron_variant SKCA-BR 17 58332851 58332851 single base substitution G A intron_variant SKCA-BR 17 58332999 58332999 single base substitution T C intron_variant SKCA-BR 17 58333457 58333457 single base substitution C T intron_variant SKCA-BR 17 58340390 58340390 single base substitution G A intron_variant SKCA-BR 17 58340589 58340589 single base substitution G A intron_variant SKCA-BR 17 58343307 58343307 single base substitution C T intron_variant SKCA-BR 17 58343361 58343361 single base substitution C T intron_variant SKCA-BR 17 58343361 58343361 single base substitution C T synonymous_variant K298K 894G>A SKCA-BR 17 58343361 58343361 single base substitution C T synonymous_variant K301K 903G>A SKCA-BR 17 58353275 58353275 insertion of <=200bp - TAAA intron_variant SKCA-BR 17 58356369 58356369 single base substitution G A intron_variant SKCA-BR 17 58356824 58356824 single base substitution G A intron_variant SKCA-BR 17 58364503 58364503 single base substitution T C intron_variant SKCA-BR 17 58367470 58367470 single base substitution G A downstream_gene_variant SKCA-BR 17 58367470 58367470 single base substitution G A intron_variant SKCA-BR 17 58368684 58368684 single base substitution A T downstream_gene_variant SKCA-BR 17 58368684 58368684 single base substitution A T intron_variant SKCA-BR 17 58374253 58374253 single base substitution A T downstream_gene_variant SKCA-BR 17 58374253 58374253 single base substitution A T intron_variant SKCA-BR 17 58377478 58377478 single base substitution G A downstream_gene_variant SKCA-BR 17 58377478 58377478 single base substitution G A intron_variant SKCA-BR 17 58383563 58383563 single base substitution G A intron_variant SKCA-BR 17 58383563 58383563 single base substitution G A upstream_gene_variant SKCA-BR 17 58384027 58384028 deletion of <=200bp TA - intron_variant SKCA-BR 17 58384027 58384028 deletion of <=200bp TA - upstream_gene_variant SKCA-BR 17 58385252 58385252 single base substitution G A intron_variant SKCA-BR 17 58385252 58385252 single base substitution G A upstream_gene_variant SKCA-BR 17 58387581 58387581 single base substitution G A intron_variant SKCA-BR 17 58387581 58387581 single base substitution G A upstream_gene_variant SKCA-BR 17 58387810 58387810 single base substitution C T intron_variant SKCA-BR 17 58389994 58389994 single base substitution G A intron_variant SKCA-BR 17 58398884 58398884 single base substitution G A intron_variant SKCA-BR 17 58400373 58400373 single base substitution G A intron_variant SKCA-BR 17 58411675 58411675 single base substitution T C intron_variant SKCA-BR 17 58411916 58411916 single base substitution G A intron_variant SKCA-BR 17 58411919 58411919 single base substitution T G intron_variant SKCA-BR 17 58411922 58411922 single base substitution A G intron_variant SKCA-BR 17 58416012 58416012 single base substitution C A intron_variant SKCA-BR 17 58417452 58417452 single base substitution G A intron_variant SKCA-BR 17 58419322 58419322 single base substitution G A intron_variant SKCA-BR 17 58421389 58421389 single base substitution C A intron_variant SKCA-BR 17 58423326 58423326 single base substitution G A intron_variant SKCA-BR 17 58426957 58426957 single base substitution A T intron_variant SKCA-BR 17 58426959 58426959 single base substitution T A intron_variant SKCA-BR 17 58426981 58426987 deletion of <=200bp TATATTA - intron_variant SKCA-BR 17 58426985 58426987 deletion of <=200bp TTA - intron_variant SKCA-BR 17 58426986 58426986 single base substitution T A intron_variant SKCA-BR 17 58426987 58426987 single base substitution A T intron_variant SKCA-BR 17 58427037 58427037 insertion of <=200bp - TAC intron_variant SKCA-BR 17 58440702 58440702 single base substitution A G intron_variant SKCA-BR 17 58444022 58444023 deletion of <=200bp GA - intron_variant SKCA-BR 17 58446351 58446351 single base substitution G A intron_variant SKCA-BR 17 58449451 58449451 single base substitution G A intron_variant SKCA-BR 17 58450999 58450999 single base substitution A G intron_variant SKCA-BR 17 58452840 58452840 single base substitution G A intron_variant SKCA-BR 17 58456148 58456148 single base substitution G A intron_variant SKCA-BR 17 58461742 58461742 single base substitution C A intron_variant SKCA-BR 17 58462563 58462563 single base substitution A C intron_variant SKCA-BR 17 58462715 58462715 single base substitution T A intron_variant SKCA-BR 17 58465856 58465856 single base substitution T A intron_variant SKCA-BR 17 58467221 58467222 deletion of <=200bp CA - intron_variant SKCA-BR 17 58469602 58469602 single base substitution T C intron_variant SKCA-BR 17 58469602 58469602 single base substitution T C upstream_gene_variant SKCA-BR 17 58469889 58469889 single base substitution T G intron_variant SKCA-BR 17 58469889 58469889 single base substitution T G upstream_gene_variant SKCA-BR 17 58472859 58472859 single base substitution C T intron_variant SKCA-BR 17 58472859 58472859 single base substitution C T upstream_gene_variant SKCA-BR 17 58479087 58479087 insertion of <=200bp - GA intron_variant SKCA-BR 17 58480436 58480436 single base substitution G A intron_variant SKCA-BR 17 58481120 58481120 single base substitution G A intron_variant SKCA-BR 17 58483544 58483544 single base substitution A T intron_variant SKCA-BR 17 58483547 58483547 single base substitution A T intron_variant SKCA-BR 17 58484957 58484957 single base substitution C T intron_variant SKCA-BR 17 58486224 58486224 single base substitution C T intron_variant SKCA-BR 17 58490321 58490321 single base substitution C T intron_variant SKCA-BR 17 58490587 58490587 single base substitution G A intron_variant SKCA-BR 17 58491398 58491398 single base substitution G C intron_variant SKCA-BR 17 58493441 58493441 single base substitution T G intron_variant SKCA-BR 17 58499351 58499351 insertion of <=200bp - CCA intron_variant SKCA-BR 17 58500663 58500663 single base substitution C T upstream_gene_variant SKCA-BR 17 58501322 58501322 single base substitution G A upstream_gene_variant SKCA-BR 17 58503823 58503823 single base substitution G A upstream_gene_variant SKCA-BR 17 58504100 58504100 single base substitution C T upstream_gene_variant SKCA-BR 17 58504411 58504411 single base substitution G A upstream_gene_variant SKCA-BR 17 58504412 58504412 single base substitution G A upstream_gene_variant SKCM-US 17 58258686 58258686 single base substitution G A downstream_gene_variant SKCM-US 17 58258686 58258686 single base substitution G A missense_variant S116L 347C>T SKCM-US 17 58258686 58258686 single base substitution G A missense_variant S1186L 3557C>T SKCM-US 17 58258686 58258686 single base substitution G A missense_variant S1516L 4547C>T SKCM-US 17 58260778 58260778 single base substitution G A exon_variant SKCM-US 17 58260778 58260778 single base substitution G A missense_variant R1291W 3871C>T SKCM-US 17 58260778 58260778 single base substitution G A missense_variant R961W 2881C>T SKCM-US 17 58260778 58260778 single base substitution G A upstream_gene_variant SKCM-US 17 58275715 58275715 single base substitution G A missense_variant R1114W 3340C>T SKCM-US 17 58275715 58275715 single base substitution G A missense_variant R784W 2350C>T SKCM-US 17 58282963 58282963 single base substitution G A downstream_gene_variant SKCM-US 17 58282963 58282963 single base substitution G A synonymous_variant L1032L 3094C>T SKCM-US 17 58282963 58282963 single base substitution G A synonymous_variant L702L 2104C>T SKCM-US 17 58284461 58284461 single base substitution G A downstream_gene_variant SKCM-US 17 58284461 58284461 single base substitution G A synonymous_variant L656L 1968C>T SKCM-US 17 58284461 58284461 single base substitution G A synonymous_variant L986L 2958C>T SKCM-US 17 58299810 58299810 single base substitution A G 3_prime_UTR_variant SKCM-US 17 58299810 58299810 single base substitution A G downstream_gene_variant SKCM-US 17 58299810 58299810 single base substitution A G exon_variant SKCM-US 17 58299810 58299810 single base substitution A G missense_variant L101P 302T>C SKCM-US 17 58299810 58299810 single base substitution A G missense_variant L240P 719T>C SKCM-US 17 58299810 58299810 single base substitution A G missense_variant L567P 1700T>C SKCM-US 17 58299810 58299810 single base substitution A G missense_variant L570P 1709T>C SKCM-US 17 58300780 58300780 single base substitution G A downstream_gene_variant SKCM-US 17 58300780 58300780 single base substitution G A exon_variant SKCM-US 17 58300780 58300780 single base substitution G A intron_variant SKCM-US 17 58300780 58300780 single base substitution G A missense_variant P204S 610C>T SKCM-US 17 58300780 58300780 single base substitution G A missense_variant P531S 1591C>T SKCM-US 17 58300780 58300780 single base substitution G A missense_variant P534S 1600C>T SKCM-US 17 58300780 58300780 single base substitution G A missense_variant P65S 193C>T SKCM-US 17 58300851 58300851 single base substitution C T downstream_gene_variant SKCM-US 17 58300851 58300851 single base substitution C T exon_variant SKCM-US 17 58300851 58300851 single base substitution C T intron_variant SKCM-US 17 58300851 58300851 single base substitution C T missense_variant G180E 539G>A SKCM-US 17 58300851 58300851 single base substitution C T missense_variant G41E 122G>A SKCM-US 17 58300851 58300851 single base substitution C T missense_variant G507E 1520G>A SKCM-US 17 58300851 58300851 single base substitution C T missense_variant G510E 1529G>A SKCM-US 17 58303433 58303433 single base substitution T A downstream_gene_variant SKCM-US 17 58303433 58303433 single base substitution T A exon_variant SKCM-US 17 58303433 58303433 single base substitution T A missense_variant T137S 409A>T SKCM-US 17 58303433 58303433 single base substitution T A missense_variant T464S 1390A>T SKCM-US 17 58303433 58303433 single base substitution T A missense_variant T467S 1399A>T SKCM-US 17 58303433 58303433 single base substitution T A upstream_gene_variant SKCM-US 17 58329766 58329766 single base substitution G A missense_variant P368L 1103C>T SKCM-US 17 58329766 58329766 single base substitution G A missense_variant P371L 1112C>T SKCM-US 17 58329766 58329766 single base substitution G A missense_variant P41L 122C>T SKCM-US 17 58329766 58329766 single base substitution G A missense_variant P75L 224C>T SKCM-US 17 58332545 58332545 single base substitution G A intron_variant SKCM-US 17 58332545 58332545 single base substitution G A synonymous_variant L25L 75C>T SKCM-US 17 58332545 58332545 single base substitution G A synonymous_variant L352L 1056C>T SKCM-US 17 58332545 58332545 single base substitution G A synonymous_variant L355L 1065C>T SKCM-US 17 58348745 58348745 single base substitution C A intron_variant SKCM-US 17 58348745 58348745 single base substitution C A missense_variant L220F 660G>T SKCM-US 17 58348745 58348745 single base substitution C A missense_variant L223F 669G>T SKCM-US 17 58348781 58348781 single base substitution C T intron_variant SKCM-US 17 58348781 58348781 single base substitution C T synonymous_variant R208R 624G>A SKCM-US 17 58348781 58348781 single base substitution C T synonymous_variant R211R 633G>A SKCM-US 17 58422887 58422887 single base substitution G A exon_variant SKCM-US 17 58422887 58422887 single base substitution G A synonymous_variant F44F 132C>T SKCM-US 17 58422887 58422887 single base substitution G A synonymous_variant F47F 141C>T SKCM-US 17 58422887 58422887 single base substitution G A synonymous_variant F63F 189C>T SKCM-US 17 58504103 58504103 single base substitution C T upstream_gene_variant STAD-US 17 58258686 58258686 single base substitution G A downstream_gene_variant STAD-US 17 58258686 58258686 single base substitution G A missense_variant S116L 347C>T STAD-US 17 58258686 58258686 single base substitution G A missense_variant S1186L 3557C>T STAD-US 17 58258686 58258686 single base substitution G A missense_variant S1516L 4547C>T STAD-US 17 58258984 58258984 single base substitution T C downstream_gene_variant STAD-US 17 58258984 58258984 single base substitution T C missense_variant K1087E 3259A>G STAD-US 17 58258984 58258984 single base substitution T C missense_variant K1417E 4249A>G STAD-US 17 58258984 58258984 single base substitution T C missense_variant K17E 49A>G STAD-US 17 58259002 58259002 single base substitution G A downstream_gene_variant STAD-US 17 58259002 58259002 single base substitution G A synonymous_variant L1081L 3241C>T STAD-US 17 58259002 58259002 single base substitution G A synonymous_variant L11L 31C>T STAD-US 17 58259002 58259002 single base substitution G A synonymous_variant L1411L 4231C>T STAD-US 17 58260552 58260552 single base substitution C A exon_variant STAD-US 17 58260552 58260552 single base substitution C A missense_variant S1036I 3107G>T STAD-US 17 58260552 58260552 single base substitution C A missense_variant S1366I 4097G>T STAD-US 17 58260552 58260552 single base substitution C A upstream_gene_variant STAD-US 17 58260568 58260568 single base substitution T G exon_variant STAD-US 17 58260568 58260568 single base substitution T G missense_variant S1031R 3091A>C STAD-US 17 58260568 58260568 single base substitution T G missense_variant S1361R 4081A>C STAD-US 17 58260568 58260568 single base substitution T G upstream_gene_variant STAD-US 17 58260599 58260599 single base substitution C T exon_variant STAD-US 17 58260599 58260599 single base substitution C T synonymous_variant S1020S 3060G>A STAD-US 17 58260599 58260599 single base substitution C T synonymous_variant S1350S 4050G>A STAD-US 17 58260599 58260599 single base substitution C T upstream_gene_variant STAD-US 17 58260766 58260766 single base substitution A G exon_variant STAD-US 17 58260766 58260766 single base substitution A G missense_variant S1295P 3883T>C STAD-US 17 58260766 58260766 single base substitution A G missense_variant S965P 2893T>C STAD-US 17 58260766 58260766 single base substitution A G upstream_gene_variant STAD-US 17 58262986 58262986 single base substitution C A exon_variant STAD-US 17 58262986 58262986 single base substitution C A missense_variant E1223D 3669G>T STAD-US 17 58262986 58262986 single base substitution C A missense_variant E893D 2679G>T STAD-US 17 58262986 58262986 single base substitution C A upstream_gene_variant STAD-US 17 58270288 58270288 single base substitution G A synonymous_variant D1146D 3438C>T STAD-US 17 58270288 58270288 single base substitution G A synonymous_variant D816D 2448C>T STAD-US 17 58288786 58288786 single base substitution G A downstream_gene_variant STAD-US 17 58288786 58288786 single base substitution G A missense_variant P427S 1279C>T STAD-US 17 58288786 58288786 single base substitution G A missense_variant P754S 2260C>T STAD-US 17 58288786 58288786 single base substitution G A missense_variant P757S 2269C>T STAD-US 17 58288786 58288786 single base substitution G A upstream_gene_variant STAD-US 17 58288813 58288813 single base substitution T C downstream_gene_variant STAD-US 17 58288813 58288813 single base substitution T C missense_variant S418G 1252A>G STAD-US 17 58288813 58288813 single base substitution T C missense_variant S745G 2233A>G STAD-US 17 58288813 58288813 single base substitution T C missense_variant S748G 2242A>G STAD-US 17 58288813 58288813 single base substitution T C upstream_gene_variant STAD-US 17 58297062 58297062 single base substitution C T 3_prime_UTR_variant STAD-US 17 58297062 58297062 single base substitution C T exon_variant STAD-US 17 58297062 58297062 single base substitution C T synonymous_variant R143R 429G>A STAD-US 17 58297062 58297062 single base substitution C T synonymous_variant R282R 846G>A STAD-US 17 58297062 58297062 single base substitution C T synonymous_variant R609R 1827G>A STAD-US 17 58297062 58297062 single base substitution C T synonymous_variant R612R 1836G>A STAD-US 17 58299799 58299799 single base substitution A G 3_prime_UTR_variant STAD-US 17 58299799 58299799 single base substitution A G downstream_gene_variant STAD-US 17 58299799 58299799 single base substitution A G exon_variant STAD-US 17 58299799 58299799 single base substitution A G missense_variant Y105H 313T>C STAD-US 17 58299799 58299799 single base substitution A G missense_variant Y244H 730T>C STAD-US 17 58299799 58299799 single base substitution A G missense_variant Y571H 1711T>C STAD-US 17 58299799 58299799 single base substitution A G missense_variant Y574H 1720T>C STAD-US 17 58299833 58299833 single base substitution G A 3_prime_UTR_variant STAD-US 17 58299833 58299833 single base substitution G A downstream_gene_variant STAD-US 17 58299833 58299833 single base substitution G A exon_variant STAD-US 17 58299833 58299833 single base substitution G A synonymous_variant V232V 696C>T STAD-US 17 58299833 58299833 single base substitution G A synonymous_variant V559V 1677C>T STAD-US 17 58299833 58299833 single base substitution G A synonymous_variant V562V 1686C>T STAD-US 17 58299833 58299833 single base substitution G A synonymous_variant V93V 279C>T STAD-US 17 58313509 58313509 single base substitution T C missense_variant Y114C 341A>G STAD-US 17 58313509 58313509 single base substitution T C missense_variant Y407C 1220A>G STAD-US 17 58313509 58313509 single base substitution T C missense_variant Y410C 1229A>G STAD-US 17 58313509 58313509 single base substitution T C missense_variant Y80C 239A>G STAD-US 17 58343335 58343335 single base substitution A G intron_variant STAD-US 17 58343335 58343335 single base substitution A G splice_donor_variant STAD-US 17 58346875 58346875 single base substitution A C intron_variant STAD-US 17 58346875 58346875 single base substitution A C missense_variant D246E 738T>G STAD-US 17 58346875 58346875 single base substitution A C missense_variant D249E 747T>G STAD-US 17 58365944 58365944 single base substitution T C intron_variant STAD-US 17 58365944 58365944 single base substitution T C missense_variant T168A 502A>G STAD-US 17 58365944 58365944 single base substitution T C missense_variant T171A 511A>G THCA-SA 17 58285542 58285542 single base substitution G A downstream_gene_variant THCA-SA 17 58285542 58285542 single base substitution G A exon_variant THCA-SA 17 58285542 58285542 single base substitution G A missense_variant R605W 1813C>T THCA-SA 17 58285542 58285542 single base substitution G A missense_variant R935W 2803C>T THCA-SA 17 58288421 58288421 single base substitution C T downstream_gene_variant THCA-SA 17 58288421 58288421 single base substitution C T missense_variant E463K 1387G>A THCA-SA 17 58288421 58288421 single base substitution C T missense_variant E790K 2368G>A THCA-SA 17 58288421 58288421 single base substitution C T missense_variant E793K 2377G>A THCA-SA 17 58288421 58288421 single base substitution C T upstream_gene_variant THCA-SA 17 58346851 58346851 single base substitution T A intron_variant THCA-SA 17 58346851 58346851 single base substitution T A missense_variant L254F 762A>T THCA-SA 17 58346851 58346851 single base substitution T A missense_variant L257F 771A>T THCA-SA 17 58499925 58499925 single base substitution C T upstream_gene_variant UCEC-US 17 58258686 58258686 single base substitution G A downstream_gene_variant UCEC-US 17 58258686 58258686 single base substitution G A missense_variant S116L 347C>T UCEC-US 17 58258686 58258686 single base substitution G A missense_variant S1186L 3557C>T UCEC-US 17 58258686 58258686 single base substitution G A missense_variant S1516L 4547C>T UCEC-US 17 58258710 58258710 single base substitution G A downstream_gene_variant UCEC-US 17 58258710 58258710 single base substitution G A missense_variant P108L 323C>T UCEC-US 17 58258710 58258710 single base substitution G A missense_variant P1178L 3533C>T UCEC-US 17 58258710 58258710 single base substitution G A missense_variant P1508L 4523C>T UCEC-US 17 58259106 58259106 single base substitution G T downstream_gene_variant UCEC-US 17 58259106 58259106 single base substitution G T missense_variant S1046Y 3137C>A UCEC-US 17 58259106 58259106 single base substitution G T missense_variant S1376Y 4127C>A UCEC-US 17 58259106 58259106 single base substitution G T upstream_gene_variant UCEC-US 17 58260600 58260600 single base substitution G A exon_variant UCEC-US 17 58260600 58260600 single base substitution G A missense_variant S1020L 3059C>T UCEC-US 17 58260600 58260600 single base substitution G A missense_variant S1350L 4049C>T UCEC-US 17 58260600 58260600 single base substitution G A upstream_gene_variant UCEC-US 17 58262937 58262937 single base substitution G A exon_variant UCEC-US 17 58262937 58262937 single base substitution G A missense_variant R1240C 3718C>T UCEC-US 17 58262937 58262937 single base substitution G A missense_variant R910C 2728C>T UCEC-US 17 58262937 58262937 single base substitution G A upstream_gene_variant UCEC-US 17 58275675 58275675 single base substitution G A missense_variant S1127F 3380C>T UCEC-US 17 58275675 58275675 single base substitution G A missense_variant S797F 2390C>T UCEC-US 17 58282844 58282844 single base substitution G T downstream_gene_variant UCEC-US 17 58282844 58282844 single base substitution G T synonymous_variant P1071P 3213C>A UCEC-US 17 58282844 58282844 single base substitution G T synonymous_variant P741P 2223C>A UCEC-US 17 58283007 58283007 single base substitution G A downstream_gene_variant UCEC-US 17 58283007 58283007 single base substitution G A missense_variant S1017L 3050C>T UCEC-US 17 58283007 58283007 single base substitution G A missense_variant S687L 2060C>T UCEC-US 17 58284445 58284445 single base substitution A G downstream_gene_variant UCEC-US 17 58284445 58284445 single base substitution A G synonymous_variant L662L 1984T>C UCEC-US 17 58284445 58284445 single base substitution A G synonymous_variant L992L 2974T>C UCEC-US 17 58288869 58288869 single base substitution G A downstream_gene_variant UCEC-US 17 58288869 58288869 single base substitution G A missense_variant T399I 1196C>T UCEC-US 17 58288869 58288869 single base substitution G A missense_variant T726I 2177C>T UCEC-US 17 58288869 58288869 single base substitution G A missense_variant T729I 2186C>T UCEC-US 17 58288869 58288869 single base substitution G A upstream_gene_variant UCEC-US 17 58289423 58289423 single base substitution G T downstream_gene_variant UCEC-US 17 58289423 58289423 single base substitution G T missense_variant S384Y 1151C>A UCEC-US 17 58289423 58289423 single base substitution G T missense_variant S711Y 2132C>A UCEC-US 17 58289423 58289423 single base substitution G T missense_variant S714Y 2141C>A UCEC-US 17 58289423 58289423 single base substitution G T upstream_gene_variant UCEC-US 17 58289440 58289440 single base substitution A T downstream_gene_variant UCEC-US 17 58289440 58289440 single base substitution A T missense_variant S378R 1134T>A UCEC-US 17 58289440 58289440 single base substitution A T missense_variant S705R 2115T>A UCEC-US 17 58289440 58289440 single base substitution A T missense_variant S708R 2124T>A UCEC-US 17 58289440 58289440 single base substitution A T upstream_gene_variant UCEC-US 17 58289457 58289457 single base substitution G A downstream_gene_variant UCEC-US 17 58289457 58289457 single base substitution G A missense_variant R373C 1117C>T UCEC-US 17 58289457 58289457 single base substitution G A missense_variant R700C 2098C>T UCEC-US 17 58289457 58289457 single base substitution G A missense_variant R703C 2107C>T UCEC-US 17 58289457 58289457 single base substitution G A upstream_gene_variant UCEC-US 17 58292001 58292001 single base substitution G T downstream_gene_variant UCEC-US 17 58292001 58292001 single base substitution G T missense_variant L213M 637C>A UCEC-US 17 58292001 58292001 single base substitution G T missense_variant L338M 1012C>A UCEC-US 17 58292001 58292001 single base substitution G T missense_variant L665M 1993C>A UCEC-US 17 58292001 58292001 single base substitution G T missense_variant L668M 2002C>A UCEC-US 17 58299847 58299847 single base substitution C A downstream_gene_variant UCEC-US 17 58299847 58299847 single base substitution C A exon_variant UCEC-US 17 58299847 58299847 single base substitution C A missense_variant D228Y 682G>T UCEC-US 17 58299847 58299847 single base substitution C A missense_variant D555Y 1663G>T UCEC-US 17 58299847 58299847 single base substitution C A missense_variant D558Y 1672G>T UCEC-US 17 58299847 58299847 single base substitution C A missense_variant D89Y 265G>T UCEC-US 17 58300812 58300812 single base substitution G T downstream_gene_variant UCEC-US 17 58300812 58300812 single base substitution G T exon_variant UCEC-US 17 58300812 58300812 single base substitution G T intron_variant UCEC-US 17 58300812 58300812 single base substitution G T missense_variant A193D 578C>A UCEC-US 17 58300812 58300812 single base substitution G T missense_variant A520D 1559C>A UCEC-US 17 58300812 58300812 single base substitution G T missense_variant A523D 1568C>A UCEC-US 17 58300812 58300812 single base substitution G T missense_variant A54D 161C>A UCEC-US 17 58313499 58313499 single base substitution G A splice_region_variant UCEC-US 17 58343369 58343369 single base substitution C A intron_variant UCEC-US 17 58343369 58343369 single base substitution C A missense_variant V296F 886G>T UCEC-US 17 58343369 58343369 single base substitution C A missense_variant V299F 895G>T UCEC-US 17 58348729 58348729 single base substitution G A intron_variant UCEC-US 17 58348729 58348729 single base substitution G A missense_variant R226C 676C>T UCEC-US 17 58348729 58348729 single base substitution G A missense_variant R229C 685C>T UCEC-US 17 58348773 58348773 single base substitution C T intron_variant UCEC-US 17 58348773 58348773 single base substitution C T missense_variant R211Q 632G>A UCEC-US 17 58348773 58348773 single base substitution C T missense_variant R214Q 641G>A UCEC-US 17 58372107 58372107 single base substitution C A intron_variant UCEC-US 17 58372107 58372107 single base substitution C A missense_variant M113I 339G>T UCEC-US 17 58372107 58372107 single base substitution C A missense_variant M116I 348G>T UCEC-US 17 58372107 58372107 single base substitution C A missense_variant M132I 396G>T UCEC-US 17 58503528 58503528 single base substitution G T upstream_gene_variant

Mutation - COSMIC Sample Name Mutation ID Mutation CDS Mutation AA Mutation Description Mutation Genome Position Mutation Strand 8012346 COSM1168837 c.255C>T p.V85V Substitution - coding silent 17:60301636-60301636 - 587226 COSM1180842 c.1433-5delT p.? Unknown 17:60223591-60223591 - TCGA-AX-A0J1-01 COSM982201 c.1239C>T p.Y413Y Substitution - coding silent 17:60236138-60236138 - SCC-25 COSM226345 c.2803C>T p.R935W Substitution - Missense 17:60208181-60208181 - ESCC_142 COSM5643729 c.3064G>A p.E1022K Substitution - Missense 17:60205632-60205632 - LUAD-CHTN-MAD08-00104 COSM361179 c.4713T>G p.Y1571* Substitution - Nonsense 17:60179357-60179357 - H358 COSM1194181 c.1173A>T p.Q391H Substitution - Missense 17:60236204-60236204 - YUMER COSM1710572 c.3651T>G p.D1217E Substitution - Missense 17:60185643-60185643 - TCGA-18-3409-01 COSM706601 c.992T>A p.M331K Substitution - Missense 17:60255257-60255257 - TCGA-DK-A3X1-01 COSM3795886 c.2313C>G p.L771L Substitution - coding silent 17:60211381-60211381 - 100912 COSM95458 c.1360G>T p.V454L Substitution - Missense 17:60226111-60226111 - TCGA-AY-6196-01 COSM1384947 c.4213A>T p.S1405C Substitution - Missense 17:60181659-60181659 - LUAD-NYU739 COSM376266 c.839G>T p.R280L Substitution - Missense 17:60266064-60266064 - TCGA-AU-3779-01 COSM165438 c.621G>C p.K207N Substitution - Missense 17:60271432-60271432 - TCGA-AP-A059-01 COSM982198 c.2002C>A p.L668M Substitution - Missense 17:60214640-60214640 - TCGA-CG-4437-01 COSM4068356 c.4249A>G p.K1417E Substitution - Missense 17:60181623-60181623 - TCGA-DK-A3IU-01 COSM3795891 c.84G>A p.L28L Substitution - coding silent 17:60345583-60345583 - LUAD-D01603 COSM337484 c.2610C>T p.N870N Substitution - coding silent 17:60208817-60208817 - 2530678 COSM5885716 c.2131G>A p.E711K Substitution - Missense 17:60212072-60212072 - TCGA-BR-8680-01 COSM4068371 c.747T>G p.D249E Substitution - Missense 17:60269514-60269514 - TCGA-EJ-5542-01 COSM1130212 c.2253T>C p.C751C Substitution - coding silent 17:60211441-60211441 - TCGA-UB-A7MB-01 COSM4932505 c.4064A>T p.D1355V Substitution - Missense 17:60183224-60183224 - CSCC-40-T COSM4449590 c.2720delA p.N907fs*15 Deletion - Frameshift 17:60208707-60208707 - TCGA-AA-3663-01 COSM1384945 c.4358delG p.G1453fs*14 Deletion - Frameshift 17:60181514-60181514 - TCGA-34-5232-01 COSM706605 c.4549T>C p.C1517R Substitution - Missense 17:60180637-60180637 - LUAD-B01811 COSM334066 c.3678G>T p.R1226R Substitution - coding silent 17:60185616-60185616 - TCGA-EJ-5521-01 COSM1130212 c.2253T>C p.C751C Substitution - coding silent 17:60211441-60211441 - CAL33 COSM226345 c.2803C>T p.R935W Substitution - Missense 17:60208181-60208181 - PD4936a COSM165441 c.3111C>T p.F1037F Substitution - coding silent 17:60205585-60205585 - TCGA-EJ-7125-01 COSM3672526 c.126G>T p.M42I Substitution - Missense 17:60345541-60345541 - SC_9081 COSM1180842 c.1433-5delT p.? Unknown 17:60223591-60223591 - PDA_005 COSM4269584 c.2149G>T p.A717S Substitution - Missense 17:60212054-60212054 - TCGA-AP-A0LM-01 COSM982203 c.685C>T p.R229C Substitution - Missense 17:60271368-60271368 - TCGA-AP-A056-01 COSM982199 c.1672G>T p.D558Y Substitution - Missense 17:60222486-60222486 - RK191_C01 COSM3742353 c.764G>A p.C255Y Substitution - Missense 17:60269497-60269497 - TCGA-C5-A1BQ-01 COSM982186 c.4049C>T p.S1350L Substitution - Missense 17:60183239-60183239 - PD4936a COSM165439 c.2713C>T p.P905S Substitution - Missense 17:60208714-60208714 - TCGA-CU-A3YL-01 COSM3795887 c.2188G>C p.E730Q Substitution - Missense 17:60211506-60211506 - TCGA-BS-A0UV-01 COSM982197 c.2107C>T p.R703C Substitution - Missense 17:60212096-60212096 - TCGA-JW-A852-01 COSM4823745 c.1295C>T p.S432L Substitution - Missense 17:60226176-60226176 - LUAD-VUMN6 COSM347886 c.588C>T p.I196I Substitution - coding silent 17:60271465-60271465 - 134427 COSM326834 c.3044C>T p.S1015F Substitution - Missense 17:60205652-60205652 - PT36 COSM1180842 c.1433-5delT p.? Unknown 17:60223591-60223591 - PD4203a COSM165438 c.621G>C p.K207N Substitution - Missense 17:60271432-60271432 - S02384 COSM5698300 c.805C>T p.Q269* Substitution - Nonsense 17:60269456-60269456 - 587220 COSM1232027 c.686G>A p.R229H Substitution - Missense 17:60271367-60271367 - B65 COSM1750209 c.4771G>A p.E1591K Substitution - Missense 17:60179299-60179299 - PTC_520 COSM1479811 c.2377G>A p.E793K Substitution - Missense 17:60211060-60211060 - TCGA-D3-A3MU-06 COSM3520345 c.1399A>T p.T467S Substitution - Missense 17:60226072-60226072 - TCGA-BH-A18G-01 COSM3196718 c.4253delA p.N1418fs*28 Deletion - Frameshift 17:60181619-60181619 - tumor_4189998 COSM1161195 c.4260G>TAAACTG p.L1420_S1421insKL Insertion - In frame 17:60181612-60181612 - PT46 COSM5929790 c.128G>A p.G43D Substitution - Missense 17:60345539-60345539 - PTC_19 COSM5959972 c.771A>T p.L257F Substitution - Missense 17:60269490-60269490 - TCGA-RG-A7D4-01 COSM4918705 c.3936G>T p.L1312F Substitution - Missense 17:60183352-60183352 - sysucc-880T COSM5462672 c.3620G>A p.R1207H Substitution - Missense 17:60190585-60190585 - 134430 COSM326836 c.3827C>A p.P1276H Substitution - Missense 17:60185467-60185467 - TCGA-HT-8564-01 COSM3970210 c.4200G>A p.R1400R Substitution - coding silent 17:60181672-60181672 - S01542 COSM376266 c.839G>T p.R280L Substitution - Missense 17:60266064-60266064 - 8033471 COSM3388067 c.96C>A p.F32L Substitution - Missense 17:60345571-60345571 - YUROG COSM5386939 c.1009G>A p.E337K Substitution - Missense 17:60255240-60255240 - sysucc-1397T COSM1384948 c.1636C>T p.R546* Substitution - Nonsense 17:60222522-60222522 - ESCC_65 COSM5633569 c.1122A>G p.E374E Substitution - coding silent 17:60252395-60252395 - TCGA-29-1776-01 COSM1324930 c.2953C>T p.R985* Substitution - Nonsense 17:60207105-60207105 - TCGA-ER-A198-06 COSM3520342 c.1709T>C p.L570P Substitution - Missense 17:60222449-60222449 - PTC_235 COSM226345 c.2803C>T p.R935W Substitution - Missense 17:60208181-60208181 - ESO-120 COSM1270078 c.1724G>A p.G575E Substitution - Missense 17:60222434-60222434 - TCGA-BQ-5877-01 COSM3989199 c.602A>C p.K201T Substitution - Missense 17:60271451-60271451 - CHOL13 COSM1744711 c.3213C>T p.P1071P Substitution - coding silent 17:60205483-60205483 - TCGA-AX-A05Z-01 COSM982183 c.4547C>T p.S1516L Substitution - Missense 17:60181325-60181325 - TCGA-B0-4819-01 COSM3362260 c.850C>T p.L284F Substitution - Missense 17:60266053-60266053 - CN-AML-13-T COSM4269584 c.2149G>T p.A717S Substitution - Missense 17:60212054-60212054 - S00833 COSM316407 c.3363G>T p.A1121A Substitution - coding silent 17:60198331-60198331 - T3118 COSM4739765 c.1239+1G>A p.? Unknown 17:60236137-60236137 - 93VU147T COSM226345 c.2803C>T p.R935W Substitution - Missense 17:60208181-60208181 - TCGA-BR-8680-01 COSM4068361 c.3883T>C p.S1295P Substitution - Missense 17:60183405-60183405 - TCGA-BR-4368-01 COSM4068364 c.2269C>T p.P757S Substitution - Missense 17:60211425-60211425 - TCGA-EE-A2MC-06 COSM3520341 c.2958C>T p.L986L Substitution - coding silent 17:60207100-60207100 - TCGA-66-2791-01 COSM706604 c.3957C>G p.L1319L Substitution - coding silent 17:60183331-60183331 - TCGA-B5-A0JZ-01 COSM982194 c.2186C>T p.T729I Substitution - Missense 17:60211508-60211508 - TCGA-A5-A0GP-01 COSM982204 c.641G>A p.R214Q Substitution - Missense 17:60271412-60271412 - TCGA-BR-4184-01 COSM4068372 c.511A>G p.T171A Substitution - Missense 17:60288583-60288583 - TCGA-FP-A4BE-01 COSM4068358 c.4097G>T p.S1366I Substitution - Missense 17:60183191-60183191 - TCGA-FW-A3R5-06 COSM3890086 c.3340C>T p.R1114W Substitution - Missense 17:60198354-60198354 - TCGA-AG-3892-01 COSM258336 c.3893T>G p.I1298S Substitution - Missense 17:60183395-60183395 - CHC892T COSM4795334 c.287C>T p.A96V Substitution - Missense 17:60301604-60301604 - H650 COSM1194633 c.3374A>T p.Q1125L Substitution - Missense 17:60198320-60198320 - BD152T COSM5506506 c.4477G>A p.E1493K Substitution - Missense 17:60181395-60181395 - TCGA-BS-A0UF-01 COSM982205 c.348G>T p.M116I Substitution - Missense 17:60294746-60294746 - TCGA-B0-4822-01 COSM3362261 c.654G>A p.E218E Substitution - coding silent 17:60271399-60271399 - ESCC_BICR_070T COSM5444948 c.1573G>A p.D525N Substitution - Missense 17:60223446-60223446 - TCGA-AC-A3YJ-01 COSM3820111 c.2146A>G p.I716V Substitution - Missense 17:60212057-60212057 - CSCC-56-T COSM4461323 c.1200C>T p.S400S Substitution - coding silent 17:60236177-60236177 - PD4203a COSM165437 c.3733G>A p.E1245K Substitution - Missense 17:60185561-60185561 - TCGA-CF-A1HR-01 COSM417418 c.2624A>G p.N875S Substitution - Missense 17:60208803-60208803 - sysucc-882T COSM5447234 c.4439G>T p.G1480V Substitution - Missense 17:60181433-60181433 - TCGA-OL-A5RZ-01 COSM3820108 c.4426C>G p.H1476D Substitution - Missense 17:60181446-60181446 - TCGA-BR-4361-01 COSM4068369 c.1229A>G p.Y410C Substitution - Missense 17:60236148-60236148 - TCGA-G2-A3IB-01 COSM1303138 c.3536G>T p.C1179F Substitution - Missense 17:60190669-60190669 - TCGA-FW-A3R5-06 COSM3890085 c.3871C>T p.R1291W Substitution - Missense 17:60183417-60183417 - TCGA-EE-A29B-06 COSM3520348 c.633G>A p.R211R Substitution - coding silent 17:60271420-60271420 - TCGA-D8-A1Y3-01 COSM1479810 c.3294C>T p.P1098P Substitution - coding silent 17:60198400-60198400 - TCGA-CU-A3YL-01 COSM3795888 c.2131G>C p.E711Q Substitution - Missense 17:60212072-60212072 - 041T COSM1729133 c.935A>T p.H312L Substitution - Missense 17:60265467-60265467 - TCGA-EE-A2MT-06 COSM3520344 c.1529G>A p.G510E Substitution - Missense 17:60223490-60223490 - TCGA-D1-A16X-01 COSM982187 c.3718C>T p.R1240C Substitution - Missense 17:60185576-60185576 - A6 COSM5350403 c.1231G>T p.V411F Substitution - Missense 17:60236146-60236146 - TCGA-B6-A1KF-01 COSM1479809 c.3878T>C p.I1293T Substitution - Missense 17:60183410-60183410 - TCGA-D1-A1NU-01 COSM982202 c.895G>T p.V299F Substitution - Missense 17:60266008-60266008 - TCGA-EE-A182-06 COSM3520340 c.3094C>T p.L1032L Substitution - coding silent 17:60205602-60205602 - TCGA-D1-A103-01 COSM982188 c.3380C>T p.S1127F Substitution - Missense 17:60198314-60198314 - TCGA-D3-A5GO-06 COSM3520346 c.1065C>T p.L355L Substitution - coding silent 17:60255184-60255184 - TCGA-AO-A03M-01 COSM1750209 c.4771G>A p.E1591K Substitution - Missense 17:60179299-60179299 - TCGA-AA-3516-01 COSM265600 c.553_554delCT p.L185fs*13 Deletion - Frameshift 17:60288540-60288541 - Mx43 COSM50257 c.1283G>A p.G428E Substitution - Missense 17:60226188-60226188 - TCGA-CK-5916-01 COSM982201 c.1239C>T p.Y413Y Substitution - coding silent 17:60236138-60236138 - BD72T COSM5513345 c.1037delA p.N346fs*8 Deletion - Frameshift 17:60255212-60255212 - sysucc-1370T COSM4269584 c.2149G>T p.A717S Substitution - Missense 17:60212054-60212054 - TCGA-B0-4810-01 COSM473142 c.2815A>G p.R939G Substitution - Missense 17:60208169-60208169 - TCGA-AX-A0J0-01 COSM982186 c.4049C>T p.S1350L Substitution - Missense 17:60183239-60183239 - Pat_36_B COSM5853134 c.4598delA p.N1533fs*37 Deletion - Frameshift 17:60180588-60180588 - PTC-73C COSM1479811 c.2377G>A p.E793K Substitution - Missense 17:60211060-60211060 - STC273 COSM4269584 c.2149G>T p.A717S Substitution - Missense 17:60212054-60212054 - I2L-P19Tb-Tumor-Organoid COSM5364132 c.34A>G p.S12G Substitution - Missense 17:60391906-60391906 - TCGA-BG-A0M0-01 COSM982196 c.2124T>A p.S708R Substitution - Missense 17:60212079-60212079 - CSCC-57-T COSM4568523 c.1190T>G p.F397C Substitution - Missense 17:60236187-60236187 - BICR_22 COSM226345 c.2803C>T p.R935W Substitution - Missense 17:60208181-60208181 - ESO-083 COSM1270077 c.3887A>G p.Q1296R Substitution - Missense 17:60183401-60183401 - TCGA-ER-A19P-06 COSM3520347 c.669G>T p.L223F Substitution - Missense 17:60271384-60271384 - T2269 COSM169288 c.3362C>T p.A1121V Substitution - Missense 17:60198332-60198332 - TP_2032 COSM5557683 c.435G>A p.K145K Substitution - coding silent 17:60288659-60288659 - 134427 COSM326835 c.1546C>G p.L516V Substitution - Missense 17:60223473-60223473 - Detroit_562 COSM226345 c.2803C>T p.R935W Substitution - Missense 17:60208181-60208181 - T3091 COSM4739768 c.358C>T p.L120F Substitution - Missense 17:60294736-60294736 - LUAD-NYU669 COSM375651 c.1911C>A p.A637A Substitution - coding silent 17:60214731-60214731 - TCGA-AP-A056-01 COSM982183 c.4547C>T p.S1516L Substitution - Missense 17:60181325-60181325 - TCGA-CG-4449-01 COSM4068368 c.1686C>T p.V562V Substitution - coding silent 17:60222472-60222472 - CSCC-31-T COSM4482696 c.2630C>T p.S877L Substitution - Missense 17:60208797-60208797 - CSCC-16-T COSM4558097 c.754G>T p.E252* Substitution - Nonsense 17:60269507-60269507 - BRC23 COSM5028340 c.637G>T p.G213* Substitution - Nonsense 17:60271416-60271416 - TCGA-IR-A3LK-01 COSM4818228 c.2287A>T p.I763F Substitution - Missense 17:60211407-60211407 - TCGA-IR-A3LL-01 COSM4849675 c.1931G>T p.R644L Substitution - Missense 17:60214711-60214711 - Pat_15_B COSM5853134 c.4598delA p.N1533fs*37 Deletion - Frameshift 17:60180588-60180588 - YUMOKI COSM5386938 c.3922C>T p.P1308S Substitution - Missense 17:60183366-60183366 - TCGA-37-4133-01 COSM706603 c.3835A>G p.I1279V Substitution - Missense 17:60183453-60183453 - T2420 COSM4739766 c.1218G>A p.Q406Q Substitution - coding silent 17:60236159-60236159 - RK081_C01 COSM3742352 c.843T>C p.D281D Substitution - coding silent 17:60266060-60266060 - T2269 COSM4739763 c.4307G>T p.G1436V Substitution - Missense 17:60181565-60181565 - XHDG33 COSM4269584 c.2149G>T p.A717S Substitution - Missense 17:60212054-60212054 - HCC107T COSM5813505 c.385G>A p.D129N Substitution - Missense 17:60294709-60294709 - TCGA-EE-A3JA-06 COSM982183 c.4547C>T p.S1516L Substitution - Missense 17:60181325-60181325 - TCGA-AD-6964-01 COSM169288 c.3362C>T p.A1121V Substitution - Missense 17:60198332-60198332 - Sample_1 COSM3196740 c.3002T>C p.V1001A Substitution - Missense 17:60207056-60207056 - TCGA-DK-A3IU-01 COSM3795889 c.1197C>T p.I399I Substitution - coding silent 17:60236180-60236180 - TCGA-FP-A4BE-01 COSM4068359 c.4081A>C p.S1361R Substitution - Missense 17:60183207-60183207 - Au9 COSM5607664 c.1411G>A p.A471T Substitution - Missense 17:60226060-60226060 - TCGA-CG-5728-01 COSM4068370 c.927+2T>C p.? Unknown 17:60265974-60265974 - TCGA-B1-A47M-01 COSM4414610 c.2203G>T p.G735C Substitution - Missense 17:60211491-60211491 - 250LT COSM4382326 c.4066G>A p.V1356M Substitution - Missense 17:60183222-60183222 - ESO-1608 COSM1270079 c.2500T>A p.L834M Substitution - Missense 17:60209468-60209468 - BD173T COSM5500187 c.1074+3A>G p.? Unknown 17:60255172-60255172 - LUAD-RT-S01832 COSM95458 c.1360G>T p.V454L Substitution - Missense 17:60226111-60226111 - 2334196 COSM324219 c.4244G>C p.G1415A Substitution - Missense 17:60181628-60181628 - RK180_C01 COSM1630317 c.3038-9A>G p.? Unknown 17:60205667-60205667 - TCGA-AX-A0J1-01 COSM982200 c.1568C>A p.A523D Substitution - Missense 17:60223451-60223451 - 100695 COSM96265 c.192T>A p.I64I Substitution - coding silent 17:60301699-60301699 - TCGA-C8-A26Y-01 COSM3820109 c.4036G>C p.D1346H Substitution - Missense 17:60183252-60183252 - 169 COSM1180842 c.1433-5delT p.? Unknown 17:60223591-60223591 - PD24212a COSM5781051 c.2855A>T p.Q952L Substitution - Missense 17:60208129-60208129 - PD4936a COSM165440 c.2712C>G p.D904E Substitution - Missense 17:60208715-60208715 - TCGA-EE-A2GI-06 COSM3520343 c.1600C>T p.P534S Substitution - Missense 17:60223419-60223419 - RK308_C01 COSM3742351 c.2179+9C>G p.? Unknown 17:60212015-60212015 - S02065 COSM5672657 c.104C>T p.T35I Substitution - Missense 17:60345563-60345563 - HCC136T COSM1610561 c.411+8T>G p.? Unknown 17:60294675-60294675 - PDA_063 COSM5001233 c.4170C>A p.S1390R Substitution - Missense 17:60181702-60181702 - CHC1052T COSM251201 c.3226A>G p.I1076V Substitution - Missense 17:60205470-60205470 - 070T COSM1730530 c.631C>T p.R211W Substitution - Missense 17:60271422-60271422 - 587338 COSM1232028 c.1586T>C p.L529S Substitution - Missense 17:60223433-60223433 - TCGA-A3-3362-01 COSM473143 c.476T>C p.F159S Substitution - Missense 17:60288618-60288618 - BD225T COSM5508702 c.1652C>T p.P551L Substitution - Missense 17:60222506-60222506 - 041T COSM1729132 c.4474A>T p.S1492C Substitution - Missense 17:60181398-60181398 - TCGA-AN-A046-01 COSM982186 c.4049C>T p.S1350L Substitution - Missense 17:60183239-60183239 - NOKSI COSM226345 c.2803C>T p.R935W Substitution - Missense 17:60208181-60208181 - TCGA-FD-A3B4-01 COSM1303137 c.3937G>A p.V1313I Substitution - Missense 17:60183351-60183351 - sysucc-1163T COSM3742351 c.2179+9C>G p.? Unknown 17:60212015-60212015 - SWE-55B COSM1180419 c.1029T>A p.S343R Substitution - Missense 17:60255220-60255220 - Pat_63_B COSM4068369 c.1229A>G p.Y410C Substitution - Missense 17:60236148-60236148 - 742_T COSM3958615 c.4369G>C p.E1457Q Substitution - Missense 17:60181503-60181503 - TCGA-BH-A18G-01 COSM3820110 c.2561A>G p.D854G Substitution - Missense 17:60209407-60209407 - I2L-P7-Tumor-Organoid COSM5364401 c.3100C>T p.R1034* Substitution - Nonsense 17:60205596-60205596 - TCGA-AP-A0LM-01 COSM982192 c.2974T>C p.L992L Substitution - coding silent 17:60207084-60207084 - T3080 COSM4739761 c.4569T>C p.G1523G Substitution - coding silent 17:60180617-60180617 - CSCC-47-T COSM4489036 c.3421C>T p.H1141Y Substitution - Missense 17:60198273-60198273 - PD18771a COSM5780630 c.1757A>T p.K586M Substitution - Missense 17:60219780-60219780 - 587376 COSM982191 c.3050C>T p.S1017L Substitution - Missense 17:60205646-60205646 - TCGA-CA-6718-01 COSM1384949 c.719T>G p.F240C Substitution - Missense 17:60269542-60269542 - PT22_1 COSM1180842 c.1433-5delT p.? Unknown 17:60223591-60223591 - T2269 COSM4739767 c.908A>G p.N303S Substitution - Missense 17:60265995-60265995 - TCGA-C5-A7CL-01 COSM4837872 c.1330G>A p.E444K Substitution - Missense 17:60226141-60226141 - TCGA-HU-A4GT-01 COSM4068363 c.3438C>T p.D1146D Substitution - coding silent 17:60192927-60192927 - TCGA-BH-A18G-01 COSM3820107 c.4510A>G p.T1504A Substitution - Missense 17:60181362-60181362 - 383 COSM4426691 c.345A>G p.E115E Substitution - coding silent 17:60294749-60294749 - PDA_035 COSM3196740 c.3002T>C p.V1001A Substitution - Missense 17:60207056-60207056 - AOCS-091-1-3 COSM4139718 c.3271C>T p.L1091L Substitution - coding silent 17:60198423-60198423 - 8066440 COSM3772987 c.4000G>C p.E1334Q Substitution - Missense 17:60183288-60183288 - TCGA-F5-6465-01 COSM1563722 c.474T>G p.T158T Substitution - coding silent 17:60288620-60288620 - TCGA-22-5489-01 COSM706602 c.3699C>G p.I1233M Substitution - Missense 17:60185595-60185595 - LP6005690-DNA_D01 COSM4966241 c.330T>A p.Y110* Substitution - Nonsense 17:60294764-60294764 - ME024T COSM226345 c.2803C>T p.R935W Substitution - Missense 17:60208181-60208181 - TCGA-D9-A149-06 COSM3196795 c.1112C>T p.P371L Substitution - Missense 17:60252405-60252405 - Pat_11_A COSM5853135 c.1432G>A p.G478S Substitution - Missense 17:60226039-60226039 - TCGA-F1-6177-01 COSM4068362 c.3669G>T p.E1223D Substitution - Missense 17:60185625-60185625 - 9087_T COSM5043297 c.1102C>A p.P368T Substitution - Missense 17:60252415-60252415 - RK216_C01 COSM3742350 c.3471A>G p.L1157L Substitution - coding silent 17:60192894-60192894 - PD23560a COSM5768127 c.4055G>A p.G1352E Substitution - Missense 17:60183233-60183233 - TCGA-AR-A1AI-01 COSM437052 c.3273G>A p.L1091L Substitution - coding silent 17:60198421-60198421 - TCGA-BR-8680-01 COSM982183 c.4547C>T p.S1516L Substitution - Missense 17:60181325-60181325 - TCGA-B5-A11E-01 COSM982189 c.3213C>A p.P1071P Substitution - coding silent 17:60205483-60205483 - TCGA-AA-A010-01 COSM299610 c.297T>G p.I99M Substitution - Missense 17:60294797-60294797 - MCN168 COSM226345 c.2803C>T p.R935W Substitution - Missense 17:60208181-60208181 - SC_9065 COSM5571706 c.1858G>T p.V620L Substitution - Missense 17:60219679-60219679 - TCGA-B0-4700-01 COSM473144 c.257T>C p.L86P Substitution - Missense 17:60301634-60301634 - 2497775 COSM5750569 c.2999C>A p.P1000H Substitution - Missense 17:60207059-60207059 - ME030T COSM227138 c.1448C>T p.A483V Substitution - Missense 17:60223571-60223571 - B65-Tumor COSM1750209 c.4771G>A p.E1591K Substitution - Missense 17:60179299-60179299 - TCGA-BR-8591-01 COSM4068357 c.4231C>T p.L1411L Substitution - coding silent 17:60181641-60181641 - 25 COSM4166995 c.3154G>C p.E1052Q Substitution - Missense 17:60205542-60205542 - PCSI_0297_Pa_P_526 COSM226345 c.2803C>T p.R935W Substitution - Missense 17:60208181-60208181 - S00833 COSM316407 c.3363G>T p.A1121A Substitution - coding silent 17:60198331-60198331 - TCGA-HU-A4GQ-01 COSM4068360 c.4050G>A p.S1350S Substitution - coding silent 17:60183238-60183238 - WSU-HN6 COSM226345 c.2803C>T p.R935W Substitution - Missense 17:60208181-60208181 - Detroit_562 COSM1479811 c.2377G>A p.E793K Substitution - Missense 17:60211060-60211060 - PD8612a COSM5785707 c.4631G>A p.S1544N Substitution - Missense 17:60180555-60180555 - TCGA-AP-A051-01 COSM982184 c.4523C>T p.P1508L Substitution - Missense 17:60181349-60181349 - BD236T COSM4269584 c.2149G>T p.A717S Substitution - Missense 17:60212054-60212054 - CN-AML-NR-13-Dx COSM4269584 c.2149G>T p.A717S Substitution - Missense 17:60212054-60212054 - TCGA-HU-A4GU-01 COSM4068367 c.1720T>C p.Y574H Substitution - Missense 17:60222438-60222438 - CHC892T COSM4795334 c.287C>T p.A96V Substitution - Missense 17:60301604-60301604 - TCGA-BS-A0UV-01 COSM982191 c.3050C>T p.S1017L Substitution - Missense 17:60205646-60205646 - HCC036T COSM5817967 c.473C>T p.T158I Substitution - Missense 17:60288621-60288621 - TCGA-HU-A4GH-01 COSM4068365 c.2242A>G p.S748G Substitution - Missense 17:60211452-60211452 - TCGA-GV-A40E-01 COSM3795890 c.370G>A p.D124N Substitution - Missense 17:60294724-60294724 - TCGA-33-4586-01 COSM706606 c.4699C>T p.Q1567* Substitution - Nonsense 17:60179371-60179371 - YUKAT COSM5386940 c.79C>T p.R27* Substitution - Nonsense 17:60345588-60345588 - RMS249 COSM5881357 c.1333G>T p.D445Y Substitution - Missense 17:60226138-60226138 - TCGA-CG-5721-01 COSM4068366 c.1836G>A p.R612R Substitution - coding silent 17:60219701-60219701 - T298 COSM4739762 c.4513C>T p.R1505C Substitution - Missense 17:60181359-60181359 - PD9696a COSM5782654 c.1244C>T p.A415V Substitution - Missense 17:60226227-60226227 - 8016470 COSM3388066 c.3676C>T p.R1226W Substitution - Missense 17:60185618-60185618 - TCGA-EB-A431-01 COSM3520349 c.141C>T p.F47F Substitution - coding silent 17:60345526-60345526 - TCGA-27-2524-01 COSM3403074 c.4514G>A p.R1505H Substitution - Missense 17:60181358-60181358 - PA285 COSM1163167 c.2139G>A p.M713I Substitution - Missense 17:60212064-60212064 - CHC1052T COSM251201 c.3226A>G p.I1076V Substitution - Missense 17:60205470-60205470 - CSCC-27-T COSM4472603 c.1795C>T p.P599S Substitution - Missense 17:60219742-60219742 - CSCC-31-T COSM4464029 c.1315C>T p.P439S Substitution - Missense 17:60226156-60226156 - CSCC-10-T COSM4566060 c.2992_2993CC>TT p.P998F Substitution - Missense 17:60207065-60207066 - TCGA-EJ-5498-01 COSM1130212 c.2253T>C p.C751C Substitution - coding silent 17:60211441-60211441 - TCGA-AA-A010-01 COSM286396 c.4564C>A p.L1522M Substitution - Missense 17:60180622-60180622 - TCGA-AO-A12B-01 COSM437051 c.4099G>A p.A1367T Substitution - Missense 17:60183189-60183189 - cSCCP6 COSM137113 c.937A>T p.M313L Substitution - Missense 17:60265465-60265465 - TCGA-36-2552-01 COSM1324931 c.4543A>G p.I1515V Substitution - Missense 17:60181329-60181329 - PD18257a COSM5770960 c.1137-1G>C p.? Unknown 17:60236241-60236241 - T166 COSM307584 c.2570G>C p.G857A Substitution - Missense 17:60209398-60209398 - TCGA-AX-A0J0-01 COSM982185 c.4127C>A p.S1376Y Substitution - Missense 17:60181745-60181745 - 8012347 COSM1168837 c.255C>T p.V85V Substitution - coding silent 17:60301636-60301636 - HCC136 COSM1610561 c.411+8T>G p.? Unknown 17:60294675-60294675 - 8034252 COSM3388065 c.3858A>G p.Q1286Q Substitution - coding silent 17:60183430-60183430 - ME009T COSM223896 c.3478G>A p.V1160M Substitution - Missense 17:60192887-60192887 - HCC107T COSM1610560 c.919G>A p.D307N Substitution - Missense 17:60265984-60265984 - UD-SCC-2 COSM226345 c.2803C>T p.R935W Substitution - Missense 17:60208181-60208181 - TCGA-BS-A0UV-01 COSM982195 c.2141C>A p.S714Y Substitution - Missense 17:60212062-60212062 - I2L-P19Tb-Tumor-Biopsy COSM5364132 c.34A>G p.S12G Substitution - Missense 17:60391906-60391906 - T1743 COSM4739764 c.3927T>C p.S1309S Substitution - coding silent 17:60183361-60183361 - PT46 COSM5929791 c.127G>A p.G43S Substitution - Missense 17:60345540-60345540 - LUAD-TLLGS COSM347560 c.1018C>G p.Q340E Substitution - Missense 17:60255231-60255231 - TCGA-BK-A0CB-01 COSM982190 c.3065A>G p.E1022G Substitution - Missense 17:60205631-60205631 - TCGA-AA-3492-01 COSM1384948 c.1636C>T p.R546* Substitution - Nonsense 17:60222522-60222522 - TCGA-BS-A0TA-01 COSM982193 c.2840C>T p.T947I Substitution - Missense 17:60208144-60208144 - HCC107 COSM1610560 c.919G>A p.D307N Substitution - Missense 17:60265984-60265984 - 107050 COSM95459 c.320C>T p.S107F Substitution - Missense 17:60294774-60294774 - CSCC-55-T COSM4487273 c.3162C>T p.N1054N Substitution - coding silent 17:60205534-60205534 - TCGA-FC-7961-01 COSM3672525 c.1598A>C p.E533A Substitution - Missense 17:60223421-60223421 - TCGA-DK-A3IL-01 COSM1303139 c.640C>T p.R214* Substitution - Nonsense 17:60271413-60271413 - 111664 COSM95686 c.349G>T p.E117* Substitution - Nonsense 17:60294745-60294745 - KPOPBR-03-T COSM5965558 c.69A>G p.V23V Substitution - coding silent 17:60345598-60345598 -

Mutation - CGAP UNIGENE CYTOBAND OMIM SNP Hs.132868 17q23.3 607740

Mutation - IntOGen Mutated from(ref) Mutated to(alt) Consequence Type AA Mutation CDS Mutation Chr Pos Cancer A C Missense p.F1024V c.3070T>G 17 58282987 RCCC A G Missense p.C1517R c.4549T>C 17 58257998 LUSC A G Missense p.I1293T c.3878T>C 17 58260771 BRCA A G Missense p.I197T c.590T>C 17 58348824 BRCA A G Missense p.L570P c.1709T>C 17 58299810 CM A G SpliceDonorSNV . c.927+2T>C 17 58343335 STAD A T IntronicSNV . c.572-2494T>A 17 58351336 CLL A T Missense p.L834M c.2500T>A 17 58286829 ESCA A T Missense p.S708R c.2124T>A 17 58289440 UCEC C A Missense p.C1179F c.3536G>T 17 58268030 BLCA C A Missense p.D1585Y c.4753G>T 17 58256678 LUAD C A Missense p.E1223D c.3669G>T 17 58262986 STAD C A Missense p.L223F c.669G>T 17 58348745 CM C A Missense p.V299F c.895G>T 17 58343369 UCEC C A Missense p.W1169C c.3507G>T 17 58270219 LUAD C A Nonsense p.G213* c.637G>T 17 58348777 BRCA C A Synonymous p.A1121A c.3363G>T 17 58275692 SCLC C G Missense p.G1415A c.4244G>C 17 58258989 SCLC C G Missense p.K207N c.621G>C 17 58348793 BRCA C T 5-UTRSNV . c.1-46G>A 17 58469346 CM C T 5-UTRSNV . c.1-57G>A 17 58469357 CM C T IntronicSNV . c.59-17513G>A 17 58440482 CLL C T Missense p.A1367T c.4099G>A 17 58260550 BRCA C T Missense p.A208T c.622G>A 17 58348792 COREAD C T Missense p.D1186N c.3556G>A 17 58268010 CM C T Missense p.E1052K c.3154G>A 17 58282903 HNSC C T Missense p.E1245K c.3733G>A 17 58262922 BRCA C T Missense p.G1030R c.3088G>A 17 58282969 CM C T Missense p.G1523S c.4567G>A 17 58257980 HNSC C T Missense p.G510E c.1529G>A 17 58300851 CM C T Missense p.G575E c.1724G>A 17 58299795 ESCA C T Missense p.G623E c.1868G>A 17 58292135 CM C T Missense p.G90S c.268G>A 17 58378984 CM C T Missense p.R1505H c.4514G>A 17 58258719 GBM C T Missense p.R214Q c.641G>A 17 58348773 UCEC C T Missense p.R773K c.2318G>A 17 58288737 CM C T Missense p.V1160M c.3478G>A 17 58270248 CM C T Missense p.V1313I c.3937G>A 17 58260712 BLCA C T Missense p.V293M c.877G>A 17 58343387 HNSC C T Synonymous p.E218E c.654G>A 17 58348760 RCCC C T Synonymous p.L1091L c.3273G>A 17 58275782 BRCA C T Synonymous p.L28L c.84G>A 17 58422944 BLCA C T Synonymous p.Q340Q c.1020G>A 17 58332590 LUAD C T Synonymous p.R211R c.633G>A 17 58348781 CM G A IntronicSNV . c.59-7100C>T 17 58430069 PIA G A Missense p.A483V c.1448C>T 17 58300932 CM G A Missense p.L284F c.850C>T 17 58343414 RCCC G A Missense p.L356F c.1066C>T 17 58332544 CM G A Missense p.P371L c.1112C>T 17 58329766 CM G A Missense p.P534S c.1600C>T 17 58300780 CM G A Missense p.P728S c.2182C>T 17 58288873 CM G A Missense p.P757S c.2269C>T 17 58288786 STAD G A Missense p.P905S c.2713C>T 17 58286075 BRCA G A Missense p.P914S c.2740C>T 17 58286048 CM G A Missense p.S1015F c.3044C>T 17 58283013 SCLC G A Missense p.S1516L c.4547C>T 17 58258686 CM G A Missense p.S225L c.674C>T 17 58348740 BRCA G A Missense p.T729I c.2186C>T 17 58288869 UCEC G A Nonsense p.Q1567* c.4699C>T 17 58256732 LUSC G A Nonsense p.R214* c.640C>T 17 58348774 BLCA G A Nonsense p.R384* c.1150C>T 17 58313588 LUAD G A Synonymous p.D279D c.837C>T 17 58343427 CM G A Synonymous p.F1037F c.3111C>T 17 58282946 BRCA G A Synonymous p.I399I c.1197C>T 17 58313541 BLCA G A Synonymous p.L1032L c.3094C>T 17 58282963 CM G A Synonymous p.L986L c.2958C>T 17 58284461 CM G A Synonymous p.N517N c.1551C>T 17 58300829 CM G A Synonymous p.P1098P c.3294C>T 17 58275761 BRCA G A Synonymous p.R1207R c.3621C>T 17 58267945 CM G A Synonymous p.V562V c.1686C>T 17 58299833 STAD G C IntronicSNV . c.928-20C>G 17 58342855 NSCLC G C Missense p.D904E c.2712C>G 17 58286076 BRCA G C Missense p.I1233M c.3699C>G 17 58262956 LUSC G C Missense p.L516V c.1546C>G 17 58300834 SCLC G C Missense p.S1545R c.4635C>G 17 58257912 BRCA G C Synonymous p.L1319L c.3957C>G 17 58260692 LUSC G C Synonymous p.L771L c.2313C>G 17 58288742 HNSC G T Missense p.P1098H c.3293C>A 17 58275762 LUAD G T Missense p.P1276H c.3827C>A 17 58262828 SCLC G T Missense p.P563Q c.1688C>A 17 58299831 LUAD G T Missense p.Q1212K c.3634C>A 17 58267932 STAD G T Missense p.R280S c.838C>A 17 58343426 STAD G T Synonymous p.I341I c.1023C>A 17 58332587 CM G T Synonymous p.R1410R c.4228C>A 17 58259005 LUAD T A Missense p.K951I c.2852A>T 17 58285493 CM T A Missense p.N1433Y c.4297A>T 17 58258936 HNSC T A Missense p.T467S c.1399A>T 17 58303433 CM TC - Frameshift p.E93Rfs*8 c.277_278delGA 17 58378974 LGG T C IntronicSNV . c.1609-107A>G 17 58300017 CLL T C Missense p.I1279V c.3835A>G 17 58260814 LUSC T C Missense p.K1417E c.4249A>G 17 58258984 STAD T C Missense p.N416S c.1247A>G 17 58303585 HNSC T C Missense p.N875S c.2624A>G 17 58286164 BLCA T C Missense p.Q1296R c.3887A>G 17 58260762 ESCA T C Missense p.T755A c.2263A>G 17 58288792 STAD T G Missense p.E533A c.1598A>C 17 58300782 PRAD - T IntronicInsertion . c.293-2647dupA 17 58374809 CM