Mutation - TCGA Type Chromosome Start Position End Position Strand Variant Classification Variant Type Reference Allele Tumor_seq Allele 1 Tumor_seq Allele 2 Tumor Sample Barcode Matched Norm Sample Barcode Genome Change cDNA Change Codon Change Protein Change BLCA 1 51826874 51826874 + Missense_Mutation SNP G G A TCGA-4Z-AA83-01A-11D-A391-08 TCGA-4Z-AA83-10A-01D-A394-08 g.chr1:51826874G>A c.2513C>T c.(2512-2514)gCt>gTt p.A838V BLCA 1 51826899 51826899 + Missense_Mutation SNP C C T TCGA-DK-AA6Q-01A-11D-A391-08 TCGA-DK-AA6Q-10A-01D-A394-08 g.chr1:51826899C>T c.2488G>A c.(2488-2490)Gct>Act p.A830T BLCA 1 51826914 51826914 + Missense_Mutation SNP C C G TCGA-4Z-AA80-01A-11D-A391-08 TCGA-4Z-AA80-10A-01D-A394-08 g.chr1:51826914C>G c.2473G>C c.(2473-2475)Gat>Cat p.D825H BLCA 1 51869162 51869162 + Nonsense_Mutation SNP C C A TCGA-E5-A4TZ-01A-11D-A31L-08 TCGA-E5-A4TZ-10B-01D-A31J-08 g.chr1:51869162C>A c.1720G>T c.(1720-1722)Gaa>Taa p.E574* BLCA 1 51873848 51873848 + Missense_Mutation SNP G G C TCGA-UY-A78K-01A-11D-A339-08 TCGA-UY-A78K-10A-01D-A339-08 g.chr1:51873848G>C c.1432C>G c.(1432-1434)Ctt>Gtt p.L478V BLCA 1 51873977 51873977 + Missense_Mutation SNP T T A TCGA-FD-A43U-01A-11D-A23U-08 TCGA-FD-A43U-10A-01D-A23U-08 g.chr1:51873977T>A c.1303A>T c.(1303-1305)Agt>Tgt p.S435C BLCA 1 51875223 51875223 + Missense_Mutation SNP G G A TCGA-XF-AAMG-01A-11D-A42E-08 TCGA-XF-AAMG-10A-01D-A42H-08 g.chr1:51875223G>A c.1259C>T c.(1258-1260)gCt>gTt p.A420V BLCA 1 51912718 51912718 + Silent SNP T T C TCGA-FD-A3B3-01A-12D-A202-08 TCGA-FD-A3B3-10A-01D-A202-08 g.chr1:51912718T>C c.711A>G c.(709-711)aaA>aaG p.K237K BLCA 1 51913720 51913720 + Missense_Mutation SNP T T A TCGA-GV-A3JZ-01A-11D-A21A-08 TCGA-GV-A3JZ-10A-01D-A21A-08 g.chr1:51913720T>A c.649A>T c.(649-651)Acg>Tcg p.T217S BLCA 1 51926777 51926777 + Missense_Mutation SNP C C G TCGA-XF-AAN0-01A-11D-A42E-08 TCGA-XF-AAN0-10A-01D-A42H-08 g.chr1:51926777C>G c.547G>C c.(547-549)Gat>Cat p.D183H BLCA 1 51929378 51929378 + Silent SNP G G A TCGA-BT-A20N-01A-11D-A14W-08 TCGA-BT-A20N-11A-11D-A14W-08 g.chr1:51929378G>A c.468C>T c.(466-468)ctC>ctT p.L156L BLCA 1 51934202 51934202 + Silent SNP C C T TCGA-DK-A3X1-01A-12D-A22Z-08 TCGA-DK-A3X1-10A-01D-A22Z-08 g.chr1:51934202C>T c.252G>A c.(250-252)caG>caA p.Q84Q BLCA 1 51934235 51934235 + Missense_Mutation SNP G G C TCGA-BT-A20N-01A-11D-A14W-08 TCGA-BT-A20N-11A-11D-A14W-08 g.chr1:51934235G>C c.219C>G c.(217-219)ttC>ttG p.F73L BRCA 1 51864825 51864825 + Missense_Mutation SNP C C A TCGA-AR-A1AT-01A-11D-A12Q-09 TCGA-AR-A1AT-10A-01D-A12Q-09 g.chr1:51864825C>A c.1931G>T c.(1930-1932)gGt>gTt p.G644V BRCA 1 51866605 51866605 + Missense_Mutation SNP G G T TCGA-D8-A1XK-01A-21D-A14K-09 TCGA-D8-A1XK-10A-01D-A14K-09 g.chr1:51866605G>T c.1903C>A c.(1903-1905)Cct>Act p.P635T BRCA 1 51869127 51869127 + Silent SNP A A T TCGA-D8-A1XK-01A-21D-A14K-09 TCGA-D8-A1XK-10A-01D-A14K-09 g.chr1:51869127A>T c.1755T>A c.(1753-1755)gtT>gtA p.V585V BRCA 1 51874002 51874002 + Missense_Mutation SNP G G C TCGA-EW-A1OV-01A-11D-A142-09 TCGA-EW-A1OV-10A-01D-A142-09 g.chr1:51874002G>C c.1278C>G c.(1276-1278)atC>atG p.I426M BRCA 1 51906092 51906092 + Missense_Mutation SNP A A G TCGA-OL-A66H-01A-11D-A29N-09 TCGA-OL-A66H-10A-01D-A29N-09 g.chr1:51906092A>G c.967T>C c.(967-969)Tca>Cca p.S323P BRCA 1 51910583 51910583 + Nonsense_Mutation SNP G G C TCGA-EW-A1IW-01A-11D-A13L-09 TCGA-EW-A1IW-10A-01D-A13O-09 g.chr1:51910583G>C c.932C>G c.(931-933)tCa>tGa p.S311* BRCA 1 51912687 51912687 + Missense_Mutation SNP C C A TCGA-A7-A0DA-01A-31D-A10Y-09 TCGA-A7-A0DA-10A-01D-A110-09 g.chr1:51912687C>A c.742G>T c.(742-744)Gtc>Ttc p.V248F CESC 1 51869122 51869122 + Missense_Mutation SNP G G C TCGA-IR-A3LL-01A-11D-A20U-09 TCGA-IR-A3LL-10A-01D-A20U-09 g.chr1:51869122G>C c.1760C>G c.(1759-1761)tCt>tGt p.S587C CESC 1 51875224 51875224 + Missense_Mutation SNP C C A TCGA-EA-A78R-01A-11D-A32I-09 TCGA-EA-A78R-10A-01D-A32I-09 g.chr1:51875224C>A c.1258G>T c.(1258-1260)Gct>Tct p.A420S CESC 1 51875362 51875362 + Missense_Mutation SNP G G C TCGA-C5-A7UE-01A-11D-A33O-09 TCGA-C5-A7UE-10A-01D-A33O-09 g.chr1:51875362G>C c.1120C>G c.(1120-1122)Caa>Gaa p.Q374E CESC 1 51910614 51910614 + Missense_Mutation SNP G G C TCGA-Q1-A6DW-01A-11D-A32I-09 TCGA-Q1-A6DW-10B-01D-A32I-09 g.chr1:51910614G>C c.901C>G c.(901-903)Cac>Gac p.H301D CESC 1 51912653 51912653 + Missense_Mutation SNP G G C TCGA-C5-A1BJ-01A-11D-A13W-08 TCGA-C5-A1BJ-10A-01D-A13W-08 g.chr1:51912653G>C c.776C>G c.(775-777)tCt>tGt p.S259C CESC 1 51912772 51912772 + Silent SNP A A T TCGA-EA-A3HU-01A-11D-A20U-09 TCGA-EA-A3HU-10B-01D-A20U-09 g.chr1:51912772A>T c.657T>A c.(655-657)gtT>gtA p.V219V COAD 1 51826993 51826993 + Missense_Mutation SNP A A T TCGA-AD-6895-01A-11D-1924-10 TCGA-AD-6895-10A-01D-1924-10 g.chr1:51826993A>T c.2394T>A c.(2392-2394)gaT>gaA p.D798E COAD 1 51827022 51827022 + Frame_Shift_Del DEL T T - TCGA-CK-5913-01A-11D-1650-10 TCGA-CK-5913-10A-01D-1650-10 g.chr1:51827022delT c.2365delA c.(2365-2367)agafs p.R789fs COAD 1 51860103 51860103 + Missense_Mutation SNP T T C TCGA-AA-3663-01A-01D-1719-10 TCGA-AA-3663-11A-01D-1719-10 g.chr1:51860103T>C c.2069A>G c.(2068-2070)cAc>cGc p.H690R COAD 1 51866591 51866591 + Splice_Site SNP G G A TCGA-AA-3837-01A-01W-0900-09 TCGA-AA-3837-10A-01W-0900-09 g.chr1:51866591G>A c.1917C>T c.(1915-1917)atC>atT p.I639I COAD 1 51868131 51868131 + Missense_Mutation SNP A A C TCGA-AA-3984-01A-02W-0995-10 TCGA-AA-3984-10A-01W-0999-10 g.chr1:51868131A>C c.1858T>G c.(1858-1860)Ttc>Gtc p.F620V COAD 1 51871645 51871645 + Missense_Mutation SNP C C A TCGA-AA-3864-01A-01W-0995-10 TCGA-AA-3864-10A-01W-0995-10 g.chr1:51871645C>A c.1609G>T c.(1609-1611)Gcc>Tcc p.A537S COAD 1 51871753 51871753 + Missense_Mutation SNP C C A TCGA-D5-6529-01A-11D-1771-10 TCGA-D5-6529-10A-01D-1771-10 g.chr1:51871753C>A c.1501G>T c.(1501-1503)Gat>Tat p.D501Y COAD 1 51875222 51875222 + Silent SNP A A C TCGA-CM-5861-01A-01D-1650-10 TCGA-CM-5861-10A-01D-1650-10 g.chr1:51875222A>C c.1260T>G c.(1258-1260)gcT>gcG p.A420A COAD 1 51887524 51887524 + Missense_Mutation SNP C C A TCGA-AA-A010-01A-01W-A00E-09 TCGA-AA-A010-10A-01W-A00E-09 g.chr1:51887524C>A c.1047G>T c.(1045-1047)aaG>aaT p.K349N COAD 1 51887524 51887524 + Missense_Mutation SNP C C A TCGA-AZ-4315-01A-01D-1408-10 TCGA-AZ-4315-10A-01D-1408-10 g.chr1:51887524C>A c.1047G>T c.(1045-1047)aaG>aaT p.K349N COAD 1 51906072 51906072 + Missense_Mutation SNP G G T TCGA-AZ-4315-01A-01D-1408-10 TCGA-AZ-4315-10A-01D-1408-10 g.chr1:51906072G>T c.987C>A c.(985-987)ttC>ttA p.F329L COAD 1 51913719 51913719 + Splice_Site SNP G G A TCGA-AA-3949-01A-01W-0995-10 TCGA-AA-3949-10A-01W-0995-10 g.chr1:51913719G>A c.650C>T c.(649-651)aCg>aTg p.T217M COAD 1 51929380 51929380 + Missense_Mutation SNP G G A TCGA-CA-6717-01A-11D-1835-10 TCGA-CA-6717-10A-01D-1835-10 g.chr1:51929380G>A c.466C>T c.(466-468)Ctc>Ttc p.L156F COADREAD 1 51826993 51826993 + Missense_Mutation SNP A A T TCGA-AD-6895-01A-11D-1924-10 TCGA-AD-6895-10A-01D-1924-10 g.chr1:51826993A>T c.2394T>A c.(2392-2394)gaT>gaA p.D798E COADREAD 1 51827022 51827022 + Frame_Shift_Del DEL T T - TCGA-CK-5913-01A-11D-1650-10 TCGA-CK-5913-10A-01D-1650-10 g.chr1:51827022delT c.2365delA c.(2365-2367)agafs p.R789fs COADREAD 1 51860103 51860103 + Missense_Mutation SNP T T C TCGA-AA-3663-01A-01D-1719-10 TCGA-AA-3663-11A-01D-1719-10 g.chr1:51860103T>C c.2069A>G c.(2068-2070)cAc>cGc p.H690R COADREAD 1 51864705 51864705 + Splice_Site SNP G G A TCGA-AG-A002-01A-01W-A00K-09 TCGA-AG-A002-10A-01W-A00K-09 g.chr1:51864705G>A c.2051C>T c.(2050-2052)tCg>tTg p.S684L COADREAD 1 51866591 51866591 + Splice_Site SNP G G A TCGA-AA-3837-01A-01W-0900-09 TCGA-AA-3837-10A-01W-0900-09 g.chr1:51866591G>A c.1917C>T c.(1915-1917)atC>atT p.I639I COADREAD 1 51868131 51868131 + Missense_Mutation SNP A A C TCGA-AA-3984-01A-02W-0995-10 TCGA-AA-3984-10A-01W-0999-10 g.chr1:51868131A>C c.1858T>G c.(1858-1860)Ttc>Gtc p.F620V COADREAD 1 51871633 51871633 + Nonsense_Mutation SNP C C A TCGA-AG-A002-01A-01W-A00K-09 TCGA-AG-A002-10A-01W-A00K-09 g.chr1:51871633C>A c.1621G>T c.(1621-1623)Gaa>Taa p.E541* COADREAD 1 51871645 51871645 + Missense_Mutation SNP C C A TCGA-AA-3864-01A-01W-0995-10 TCGA-AA-3864-10A-01W-0995-10 g.chr1:51871645C>A c.1609G>T c.(1609-1611)Gcc>Tcc p.A537S COADREAD 1 51871753 51871753 + Missense_Mutation SNP C C A TCGA-D5-6529-01A-11D-1771-10 TCGA-D5-6529-10A-01D-1771-10 g.chr1:51871753C>A c.1501G>T c.(1501-1503)Gat>Tat p.D501Y COADREAD 1 51875222 51875222 + Silent SNP A A C TCGA-CM-5861-01A-01D-1650-10 TCGA-CM-5861-10A-01D-1650-10 g.chr1:51875222A>C c.1260T>G c.(1258-1260)gcT>gcG p.A420A COADREAD 1 51887524 51887524 + Missense_Mutation SNP C C A TCGA-AA-A010-01A-01W-A00E-09 TCGA-AA-A010-10A-01W-A00E-09 g.chr1:51887524C>A c.1047G>T c.(1045-1047)aaG>aaT p.K349N COADREAD 1 51887524 51887524 + Missense_Mutation SNP C C A TCGA-AZ-4315-01A-01D-1408-10 TCGA-AZ-4315-10A-01D-1408-10 g.chr1:51887524C>A c.1047G>T c.(1045-1047)aaG>aaT p.K349N COADREAD 1 51906072 51906072 + Missense_Mutation SNP G G T TCGA-AZ-4315-01A-01D-1408-10 TCGA-AZ-4315-10A-01D-1408-10 g.chr1:51906072G>T c.987C>A c.(985-987)ttC>ttA p.F329L COADREAD 1 51913719 51913719 + Splice_Site SNP G G A TCGA-AA-3949-01A-01W-0995-10 TCGA-AA-3949-10A-01W-0995-10 g.chr1:51913719G>A c.650C>T c.(649-651)aCg>aTg p.T217M COADREAD 1 51929380 51929380 + Missense_Mutation SNP G G A TCGA-CA-6717-01A-11D-1835-10 TCGA-CA-6717-10A-01D-1835-10 g.chr1:51929380G>A c.466C>T c.(466-468)Ctc>Ttc p.L156F COADREAD 1 51934222 51934222 + Missense_Mutation SNP G G A TCGA-AG-3892-01A-01W-1073-09 TCGA-AG-3892-10A-01W-1073-09 g.chr1:51934222G>A c.232C>T c.(232-234)Cgt>Tgt p.R78C DLBC 1 51829575 51829575 + Silent SNP C C T TCGA-G8-6907-01A-11D-2210-10 TCGA-G8-6907-14A-01D-2210-10 g.chr1:51829575C>T c.2322G>A c.(2320-2322)aaG>aaA p.K774K DLBC 1 51869184 51869184 + Silent SNP T T G TCGA-G8-6909-01A-11D-2210-10 TCGA-G8-6909-14A-01D-2210-10 g.chr1:51869184T>G c.1698A>C c.(1696-1698)ctA>ctC p.L566L ESCA 1 51864773 51864773 + Missense_Mutation SNP T T G TCGA-L7-A56G-01A-21D-A27G-09 TCGA-L7-A56G-10A-01D-A27G-09 g.chr1:51864773T>G c.1983A>C c.(1981-1983)caA>caC p.Q661H ESCA 1 51875221 51875221 + Missense_Mutation SNP C C T TCGA-Z6-A8JE-01A-11D-A37C-09 TCGA-Z6-A8JE-10A-01D-A37F-09 g.chr1:51875221C>T c.1261G>A c.(1261-1263)Gag>Aag p.E421K ESCA 1 51906102 51906102 + Silent SNP G G A TCGA-LN-A49X-01A-31D-A27G-09 TCGA-LN-A49X-10A-01D-A27G-09 g.chr1:51906102G>A c.957C>T c.(955-957)aaC>aaT p.N319N ESCA 1 51913746 51913746 + Missense_Mutation SNP G G A TCGA-L5-A4OE-01A-11D-A27G-09 TCGA-L5-A4OE-11A-11D-A27G-09 g.chr1:51913746G>A c.623C>T c.(622-624)gCc>gTc p.A208V GBM 1 51829678 51829678 + Missense_Mutation SNP C C T TCGA-06-5858-01A-01D-1696-08 TCGA-06-5858-10A-01D-1696-08 g.chr1:51829678C>T c.2219G>A c.(2218-2220)cGt>cAt p.R740H GBM 1 51869155 51869155 + Missense_Mutation SNP T T C TCGA-16-1048-01B-01D-1353-08 TCGA-16-1048-10A-01D-1353-08 g.chr1:51869155T>C c.1727A>G c.(1726-1728)gAg>gGg p.E576G GBMLGG 1 51829678 51829678 + Missense_Mutation SNP C C T TCGA-06-5858-01A-01D-1696-08 TCGA-06-5858-10A-01D-1696-08 g.chr1:51829678C>T c.2219G>A c.(2218-2220)cGt>cAt p.R740H GBMLGG 1 51869155 51869155 + Missense_Mutation SNP T T C TCGA-16-1048-01B-01D-1353-08 TCGA-16-1048-10A-01D-1353-08 g.chr1:51869155T>C c.1727A>G c.(1726-1728)gAg>gGg p.E576G GBMLGG 1 51875340 51875340 + Missense_Mutation SNP T T C TCGA-DU-6392-01A-11D-1705-08 TCGA-DU-6392-10A-01D-1705-08 g.chr1:51875340T>C c.1142A>G c.(1141-1143)aAt>aGt p.N381S HNSC 1 51822456 51822456 + Missense_Mutation SNP C C G TCGA-CN-4729-01A-01D-1434-08 TCGA-CN-4729-10A-01D-1434-08 g.chr1:51822456C>G c.2607G>C c.(2605-2607)caG>caC p.Q869H HNSC 1 51829572 51829572 + Silent SNP G G A TCGA-HD-A6HZ-01A-12D-A31L-08 TCGA-HD-A6HZ-10A-01D-A31J-08 g.chr1:51829572G>A c.2325C>T c.(2323-2325)atC>atT p.I775I HNSC 1 51829611 51829611 + Silent SNP G G A TCGA-F7-A61S-01A-11D-A28R-08 TCGA-F7-A61S-10A-01D-A28U-08 g.chr1:51829611G>A c.2286C>T c.(2284-2286)gtC>gtT p.V762V HNSC 1 51864782 51864782 + Missense_Mutation SNP G G C TCGA-CQ-A4CD-01A-21D-A25D-08 TCGA-CQ-A4CD-10A-01D-A25E-08 g.chr1:51864782G>C c.1974C>G c.(1972-1974)ttC>ttG p.F658L HNSC 1 51873905 51873905 + Missense_Mutation SNP G G C TCGA-CN-6994-01A-11D-1912-08 TCGA-CN-6994-10A-01D-1912-08 g.chr1:51873905G>C c.1375C>G c.(1375-1377)Caa>Gaa p.Q459E HNSC 1 51906049 51906049 + Missense_Mutation SNP G G A TCGA-P3-A6T7-01A-11D-A34J-08 TCGA-P3-A6T7-10A-01D-A34M-08 g.chr1:51906049G>A c.1010C>T c.(1009-1011)aCt>aTt p.T337I HNSC 1 51910602 51910602 + Missense_Mutation SNP G G C TCGA-P3-A6T3-01A-11D-A34J-08 TCGA-P3-A6T3-10A-01D-A34M-08 g.chr1:51910602G>C c.913C>G c.(913-915)Cct>Gct p.P305A HNSC 1 51926824 51926824 + Splice_Site SNP T T A TCGA-CV-A461-01A-41D-A25Y-08 TCGA-CV-A461-10A-01D-A25Y-08 g.chr1:51926824T>A c.e8-2 HNSC 1 51930972 51930972 + Silent SNP G G A TCGA-CN-A6V1-01A-12D-A34J-08 TCGA-CN-A6V1-10B-01D-A34M-08 g.chr1:51930972G>A c.336C>T c.(334-336)atC>atT p.I112I HNSC 1 51938592 51938592 + Missense_Mutation SNP A A G TCGA-F7-A624-01A-22D-A30E-08 TCGA-F7-A624-10A-01D-A30H-08 g.chr1:51938592A>G c.104T>C c.(103-105)tTg>tCg p.L35S KIPAN 1 51869130 51869130 + Frame_Shift_Del DEL T T - TCGA-CZ-5451-01A-01D-1501-10 TCGA-CZ-5451-11A-01D-1501-10 g.chr1:51869130delT c.1752delA c.(1750-1752)aaafs p.K584fs KIPAN 1 51887534 51887534 + Intron SNP G G C TCGA-B2-5633-01A-01D-1534-10 TCGA-B2-5633-10A-01D-1535-10 g.chr1:51887534G>C KIPAN 1 51929372 51929372 + Silent SNP A A T TCGA-WN-AB4C-01A-11D-A42J-10 TCGA-WN-AB4C-10A-01D-A42M-10 g.chr1:51929372A>T c.474T>A c.(472-474)tcT>tcA p.S158S KIRC 1 51869130 51869130 + Frame_Shift_Del DEL T T - TCGA-CZ-5451-01A-01D-1501-10 TCGA-CZ-5451-11A-01D-1501-10 g.chr1:51869130delT c.1752delA c.(1750-1752)aaafs p.K584fs KIRC 1 51887534 51887534 + Intron SNP G G C TCGA-B2-5633-01A-01D-1534-10 TCGA-B2-5633-10A-01D-1535-10 g.chr1:51887534G>C KIRP 1 51929372 51929372 + Silent SNP A A T TCGA-WN-AB4C-01A-11D-A42J-10 TCGA-WN-AB4C-10A-01D-A42M-10 g.chr1:51929372A>T c.474T>A c.(472-474)tcT>tcA p.S158S LGG 1 51875340 51875340 + Missense_Mutation SNP T T C TCGA-DU-6392-01A-11D-1705-08 TCGA-DU-6392-10A-01D-1705-08 g.chr1:51875340T>C c.1142A>G c.(1141-1143)aAt>aGt p.N381S LIHC 1 51864724 51864724 + Missense_Mutation SNP T T C TCGA-UB-A7MB-01A-11D-A33Q-10 TCGA-UB-A7MB-10A-01D-A33Q-10 g.chr1:51864724T>C c.2032A>G c.(2032-2034)Aac>Gac p.N678D LUAD 1 51829575 51829575 + Missense_Mutation SNP C C G TCGA-55-7727-01A-11D-2167-08 TCGA-55-7727-10A-01D-2167-08 g.chr1:51829575C>G c.2322G>C c.(2320-2322)aaG>aaC p.K774N LUAD 1 51829698 51829698 + Silent SNP G G C TCGA-05-5423-01A-01D-1625-08 TCGA-05-5423-10A-01D-1625-08 g.chr1:51829698G>C c.2199C>G c.(2197-2199)gtC>gtG p.V733V LUAD 1 51869091 51869091 + Splice_Site SNP C C A TCGA-53-7626-01A-12D-2063-08 TCGA-53-7626-10A-01D-2063-08 g.chr1:51869091C>A c.1791G>T c.(1789-1791)gaG>gaT p.E597D LUAD 1 51871621 51871621 + Missense_Mutation SNP C C A TCGA-49-6743-01A-11D-1855-08 TCGA-49-6743-11A-01D-1855-08 g.chr1:51871621C>A c.1633G>T c.(1633-1635)Ggc>Tgc p.G545C LUAD 1 51871777 51871777 + Missense_Mutation SNP G G C TCGA-55-A492-01A-11D-A24D-08 TCGA-55-A492-10A-01D-A24F-08 g.chr1:51871777G>C c.1477C>G c.(1477-1479)Caa>Gaa p.Q493E LUAD 1 51873958 51873958 + Missense_Mutation SNP G G A TCGA-44-A47A-01A-21D-A24D-08 TCGA-44-A47A-10A-01D-A24F-08 g.chr1:51873958G>A c.1322C>T c.(1321-1323)tCc>tTc p.S441F LUAD 1 51875246 51875246 + Silent SNP G G T TCGA-05-4397-01A-01D-1265-08 TCGA-05-4397-10A-01D-1265-08 g.chr1:51875246G>T c.1236C>A c.(1234-1236)ctC>ctA p.L412L LUAD 1 51913718 51913718 + Splice_Site SNP C C A TCGA-93-8067-01A-11D-2284-08 TCGA-93-8067-10A-01D-2284-08 g.chr1:51913718C>A c.651G>T c.(649-651)acG>acT p.T217T LUAD 1 51930943 51930943 + Missense_Mutation SNP C C G TCGA-55-A4DF-01A-11D-A24D-08 TCGA-55-A4DF-10A-01D-A24F-08 g.chr1:51930943C>G c.365G>C c.(364-366)tGg>tCg p.W122S LUSC 1 51822469 51822469 + Missense_Mutation SNP C C T TCGA-66-2785-01A-01D-1522-08 TCGA-66-2785-11A-01D-1522-08 g.chr1:51822469C>T c.2594G>A c.(2593-2595)aGa>aAa p.R865K LUSC 1 51829589 51829589 + Missense_Mutation SNP C C A TCGA-21-1070-01A-01D-1521-08 TCGA-21-1070-11A-01D-1521-08 g.chr1:51829589C>A c.2308G>T c.(2308-2310)Gca>Tca p.A770S LUSC 1 51871588 51871588 + Missense_Mutation SNP G G T TCGA-66-2744-01A-01D-0983-08 TCGA-66-2744-11A-01D-0983-08 g.chr1:51871588G>T c.1666C>A c.(1666-1668)Cag>Aag p.Q556K LUSC 1 51912683 51912683 + Missense_Mutation SNP C C A TCGA-43-2578-01A-01D-1522-08 TCGA-43-2578-11A-01D-1522-08 g.chr1:51912683C>A c.746G>T c.(745-747)cGt>cTt p.R249L LUSC 1 51946954 51946954 + Nonsense_Mutation SNP G G C TCGA-33-4538-01A-01D-1267-08 TCGA-33-4538-11A-01D-1267-08 g.chr1:51946954G>C c.66C>G c.(64-66)taC>taG p.Y22* PAAD 1 51910708 51910708 + Silent SNP G G A TCGA-3A-A9IJ-01A-11D-A397-08 TCGA-3A-A9IJ-10A-01D-A39A-08 g.chr1:51910708G>A c.807C>T c.(805-807)tgC>tgT p.C269C PAAD 1 51913785 51913785 + Missense_Mutation SNP G G A TCGA-IB-7651-01A-11D-2154-08 TCGA-IB-7651-10A-01D-2154-08 g.chr1:51913785G>A c.584C>T c.(583-585)gCa>gTa p.A195V PAAD 1 51937366 51937366 + Missense_Mutation SNP T T G TCGA-IB-7651-01A-11D-2154-08 TCGA-IB-7651-10A-01D-2154-08 g.chr1:51937366T>G c.209A>C c.(208-210)aAa>aCa p.K70T PRAD 1 51826841 51826841 + Splice_Site SNP A A G TCGA-CH-5764-01A-21D-1576-08 TCGA-CH-5764-11A-01D-1576-08 g.chr1:51826841A>G c.e24+1 PRAD 1 51868169 51868169 + Missense_Mutation SNP G G A TCGA-EJ-A7NN-01A-11D-A33T-08 TCGA-EJ-A7NN-10A-01D-A33W-08 g.chr1:51868169G>A c.1820C>T c.(1819-1821)tCg>tTg p.S607L READ 1 51864705 51864705 + Splice_Site SNP G G A TCGA-AG-A002-01A-01W-A00K-09 TCGA-AG-A002-10A-01W-A00K-09 g.chr1:51864705G>A c.2051C>T c.(2050-2052)tCg>tTg p.S684L READ 1 51871633 51871633 + Nonsense_Mutation SNP C C A TCGA-AG-A002-01A-01W-A00K-09 TCGA-AG-A002-10A-01W-A00K-09 g.chr1:51871633C>A c.1621G>T c.(1621-1623)Gaa>Taa p.E541* READ 1 51934222 51934222 + Missense_Mutation SNP G G A TCGA-AG-3892-01A-01W-1073-09 TCGA-AG-3892-10A-01W-1073-09 g.chr1:51934222G>A c.232C>T c.(232-234)Cgt>Tgt p.R78C SKCM 1 51822432 51822432 + Missense_Mutation SNP C C G TCGA-ER-A19P-06A-11D-A196-08 TCGA-ER-A19P-10A-01D-A198-08 g.chr1:51822432C>G c.2631G>C c.(2629-2631)caG>caC p.Q877H SKCM 1 51831680 51831680 + Missense_Mutation SNP A A T TCGA-ER-A193-06A-12D-A197-08 TCGA-ER-A193-10A-01D-A199-08 g.chr1:51831680A>T c.2141T>A c.(2140-2142)gTt>gAt p.V714D SKCM 1 51869204 51869204 + Splice_Site SNP C C T TCGA-EE-A29A-06A-12D-A196-08 TCGA-EE-A29A-10A-01D-A198-08 g.chr1:51869204C>T c.1678G>A c.(1678-1680)Gca>Aca p.A560T SKCM 1 51929354 51929354 + Silent SNP G G A TCGA-GN-A266-06A-11D-A197-08 TCGA-GN-A266-10A-01D-A199-08 g.chr1:51929354G>A c.492C>T c.(490-492)atC>atT p.I164I SKCM 1 51934234 51934234 + Missense_Mutation SNP A A C TCGA-EE-A2M6-06A-12D-A197-08 TCGA-EE-A2M6-10A-01D-A199-08 g.chr1:51934234A>C c.220T>G c.(220-222)Ttt>Gtt p.F74V

Mutation - ICGC Project Code Chromosome Chromosome Start Chromosome End Mutation Type Mutated from Allele Mutated to Allele Consequence Type AA Mutation CDS Mutation BLCA-CN 1 51827023 51827023 single base substitution T A missense_variant K465N 1395A>T BLCA-CN 1 51827023 51827023 single base substitution T A missense_variant K654N 1962A>T BLCA-CN 1 51827023 51827023 single base substitution T A missense_variant K788N 2364A>T BLCA-CN 1 51875278 51875278 single base substitution C T exon_variant BLCA-CN 1 51875278 51875278 single base substitution C T missense_variant D402N 1204G>A BLCA-CN 1 51875278 51875278 single base substitution C T missense_variant D79N 235G>A BLCA-CN 1 51910613 51910613 single base substitution T A missense_variant H301L 902A>T BLCA-US 1 51912718 51912718 single base substitution T C synonymous_variant K237K 711A>G BLCA-US 1 51913720 51913720 single base substitution T A missense_variant T217S 649A>T BLCA-US 1 51929378 51929378 single base substitution G A 3_prime_UTR_variant BLCA-US 1 51929378 51929378 single base substitution G A exon_variant BLCA-US 1 51929378 51929378 single base substitution G A synonymous_variant L156L 468C>T BLCA-US 1 51934202 51934202 single base substitution C T exon_variant BLCA-US 1 51934202 51934202 single base substitution C T intron_variant BLCA-US 1 51934202 51934202 single base substitution C T synonymous_variant Q84Q 252G>A BLCA-US 1 51934202 51934202 single base substitution C T upstream_gene_variant BLCA-US 1 51934235 51934235 single base substitution G C exon_variant BLCA-US 1 51934235 51934235 single base substitution G C intron_variant BLCA-US 1 51934235 51934235 single base substitution G C missense_variant F73L 219C>G BLCA-US 1 51934235 51934235 single base substitution G C upstream_gene_variant BRCA-EU 1 51814950 51814950 single base substitution C T downstream_gene_variant BRCA-EU 1 51815117 51815117 single base substitution A C downstream_gene_variant BRCA-EU 1 51815700 51815700 single base substitution C G downstream_gene_variant BRCA-EU 1 51815755 51815755 single base substitution C T downstream_gene_variant BRCA-EU 1 51817887 51817887 single base substitution C G downstream_gene_variant BRCA-EU 1 51818038 51818038 single base substitution G T downstream_gene_variant BRCA-EU 1 51819501 51819501 single base substitution C T downstream_gene_variant BRCA-EU 1 51820163 51820163 insertion of <=200bp - T 3_prime_UTR_variant BRCA-EU 1 51820163 51820163 insertion of <=200bp - T downstream_gene_variant BRCA-EU 1 51823925 51823925 single base substitution C T intron_variant BRCA-EU 1 51823970 51823970 single base substitution A T intron_variant BRCA-EU 1 51824707 51824707 single base substitution T G intron_variant BRCA-EU 1 51825964 51825964 single base substitution A C intron_variant BRCA-EU 1 51828485 51828485 single base substitution A T intron_variant BRCA-EU 1 51830078 51830078 single base substitution G T intron_variant BRCA-EU 1 51831669 51831669 single base substitution C A stop_gained E395* 1183G>T BRCA-EU 1 51831669 51831669 single base substitution C A stop_gained E584* 1750G>T BRCA-EU 1 51831669 51831669 single base substitution C A stop_gained E718* 2152G>T BRCA-EU 1 51833760 51833760 single base substitution C T intron_variant BRCA-EU 1 51834241 51834241 single base substitution C G intron_variant BRCA-EU 1 51834627 51834627 single base substitution C T intron_variant BRCA-EU 1 51835310 51835310 deletion of <=200bp T - intron_variant BRCA-EU 1 51839389 51839389 single base substitution G C intron_variant BRCA-EU 1 51840105 51840105 single base substitution G A intron_variant BRCA-EU 1 51840899 51840899 single base substitution T A intron_variant BRCA-EU 1 51841106 51841106 single base substitution C A intron_variant BRCA-EU 1 51843758 51843758 single base substitution G A intron_variant BRCA-EU 1 51843888 51843888 single base substitution A T intron_variant BRCA-EU 1 51844702 51844702 single base substitution T A intron_variant BRCA-EU 1 51844924 51844924 single base substitution T A intron_variant BRCA-EU 1 51847378 51847378 single base substitution G A intron_variant BRCA-EU 1 51850931 51850931 single base substitution C A intron_variant BRCA-EU 1 51850982 51850982 deletion of <=200bp A - intron_variant BRCA-EU 1 51851579 51851579 single base substitution G C intron_variant BRCA-EU 1 51852164 51852164 single base substitution C A intron_variant BRCA-EU 1 51853194 51853194 single base substitution G A intron_variant BRCA-EU 1 51856188 51856188 single base substitution G C downstream_gene_variant BRCA-EU 1 51856188 51856188 single base substitution G C intron_variant BRCA-EU 1 51856967 51856967 single base substitution C A downstream_gene_variant BRCA-EU 1 51856967 51856967 single base substitution C A intron_variant BRCA-EU 1 51859401 51859401 single base substitution T A downstream_gene_variant BRCA-EU 1 51859401 51859401 single base substitution T A intron_variant BRCA-EU 1 51859633 51859633 single base substitution A C downstream_gene_variant BRCA-EU 1 51859633 51859633 single base substitution A C intron_variant BRCA-EU 1 51859816 51859816 single base substitution T A downstream_gene_variant BRCA-EU 1 51859816 51859816 single base substitution T A intron_variant BRCA-EU 1 51860680 51860680 single base substitution G A intron_variant BRCA-EU 1 51861636 51861636 insertion of <=200bp - A intron_variant BRCA-EU 1 51861741 51861741 single base substitution A C intron_variant BRCA-EU 1 51863096 51863096 single base substitution A G intron_variant BRCA-EU 1 51863407 51863407 single base substitution T C intron_variant BRCA-EU 1 51863416 51863416 single base substitution C A intron_variant BRCA-EU 1 51865923 51865923 single base substitution G A downstream_gene_variant BRCA-EU 1 51865923 51865923 single base substitution G A intron_variant BRCA-EU 1 51865986 51865986 insertion of <=200bp - A downstream_gene_variant BRCA-EU 1 51865986 51865986 insertion of <=200bp - A intron_variant BRCA-EU 1 51870570 51870570 single base substitution T C intron_variant BRCA-EU 1 51870570 51870570 single base substitution T C upstream_gene_variant BRCA-EU 1 51871564 51871564 single base substitution G C intron_variant BRCA-EU 1 51871564 51871564 single base substitution G C upstream_gene_variant BRCA-EU 1 51872524 51872524 single base substitution G A intron_variant BRCA-EU 1 51872524 51872524 single base substitution G A upstream_gene_variant BRCA-EU 1 51873666 51873666 deletion of <=200bp A - intron_variant BRCA-EU 1 51873666 51873666 deletion of <=200bp A - upstream_gene_variant BRCA-EU 1 51874161 51874161 single base substitution G C intron_variant BRCA-EU 1 51874637 51874637 single base substitution A T intron_variant BRCA-EU 1 51875015 51875015 single base substitution T G intron_variant BRCA-EU 1 51877284 51877284 single base substitution C T intron_variant BRCA-EU 1 51877412 51877412 single base substitution C T intron_variant BRCA-EU 1 51879200 51879200 single base substitution C G intron_variant BRCA-EU 1 51880629 51880629 single base substitution T A intron_variant BRCA-EU 1 51886464 51886464 single base substitution A G intron_variant BRCA-EU 1 51887347 51887347 single base substitution T C intron_variant BRCA-EU 1 51887575 51887575 single base substitution T G exon_variant BRCA-EU 1 51887575 51887575 single base substitution T G intron_variant BRCA-EU 1 51887579 51887579 single base substitution G A exon_variant BRCA-EU 1 51887579 51887579 single base substitution G A intron_variant BRCA-EU 1 51887597 51887597 single base substitution C T exon_variant BRCA-EU 1 51887597 51887597 single base substitution C T intron_variant BRCA-EU 1 51889706 51889706 single base substitution C A intron_variant BRCA-EU 1 51889706 51889706 single base substitution C A upstream_gene_variant BRCA-EU 1 51890473 51890473 single base substitution G T intron_variant BRCA-EU 1 51890473 51890473 single base substitution G T upstream_gene_variant BRCA-EU 1 51890712 51890712 single base substitution C A intron_variant BRCA-EU 1 51890712 51890712 single base substitution C A upstream_gene_variant BRCA-EU 1 51890905 51890905 single base substitution C T intron_variant BRCA-EU 1 51890905 51890905 single base substitution C T upstream_gene_variant BRCA-EU 1 51894078 51894078 single base substitution G C intron_variant BRCA-EU 1 51895161 51895161 deletion of <=200bp A - intron_variant BRCA-EU 1 51895644 51895644 single base substitution G T intron_variant BRCA-EU 1 51896405 51896405 single base substitution A G intron_variant BRCA-EU 1 51897396 51897396 single base substitution G C intron_variant BRCA-EU 1 51898966 51898966 single base substitution G C intron_variant BRCA-EU 1 51899228 51899228 single base substitution G C intron_variant BRCA-EU 1 51901143 51901143 single base substitution G T intron_variant BRCA-EU 1 51903444 51903445 deletion of <=200bp CG - intron_variant BRCA-EU 1 51903643 51903643 insertion of <=200bp - A intron_variant BRCA-EU 1 51906657 51906657 single base substitution A G intron_variant BRCA-EU 1 51908396 51908396 deletion of <=200bp T - intron_variant BRCA-EU 1 51909176 51909176 single base substitution G C intron_variant BRCA-EU 1 51909177 51909177 deletion of <=200bp C - intron_variant BRCA-EU 1 51910028 51910028 single base substitution C T intron_variant BRCA-EU 1 51912574 51912574 single base substitution G C intron_variant BRCA-EU 1 51912634 51912634 single base substitution T C missense_variant I265M 795A>G BRCA-EU 1 51912884 51912884 single base substitution C A intron_variant BRCA-EU 1 51913010 51913010 deletion of <=200bp T - intron_variant BRCA-EU 1 51914119 51914119 single base substitution C G intron_variant BRCA-EU 1 51915120 51915120 single base substitution G A intron_variant BRCA-EU 1 51915913 51915913 insertion of <=200bp - G intron_variant BRCA-EU 1 51916581 51916581 insertion of <=200bp - A intron_variant BRCA-EU 1 51916894 51916894 single base substitution C T intron_variant BRCA-EU 1 51917023 51917023 single base substitution C T intron_variant BRCA-EU 1 51917574 51917574 single base substitution C G intron_variant BRCA-EU 1 51917703 51917703 single base substitution G A intron_variant BRCA-EU 1 51918488 51918488 single base substitution T C downstream_gene_variant BRCA-EU 1 51918488 51918488 single base substitution T C intron_variant BRCA-EU 1 51918693 51918693 single base substitution C T downstream_gene_variant BRCA-EU 1 51918693 51918693 single base substitution C T intron_variant BRCA-EU 1 51918695 51918695 single base substitution A G downstream_gene_variant BRCA-EU 1 51918695 51918695 single base substitution A G intron_variant BRCA-EU 1 51918707 51918707 single base substitution T C downstream_gene_variant BRCA-EU 1 51918707 51918707 single base substitution T C intron_variant BRCA-EU 1 51919880 51919880 single base substitution C T downstream_gene_variant BRCA-EU 1 51919880 51919880 single base substitution C T intron_variant BRCA-EU 1 51919943 51919943 single base substitution T G downstream_gene_variant BRCA-EU 1 51919943 51919943 single base substitution T G intron_variant BRCA-EU 1 51920179 51920179 deletion of <=200bp A - downstream_gene_variant BRCA-EU 1 51920179 51920179 deletion of <=200bp A - intron_variant BRCA-EU 1 51923213 51923213 single base substitution T G downstream_gene_variant BRCA-EU 1 51923213 51923213 single base substitution T G exon_variant BRCA-EU 1 51923213 51923213 single base substitution T G intron_variant BRCA-EU 1 51923888 51923888 single base substitution A G downstream_gene_variant BRCA-EU 1 51923888 51923888 single base substitution A G exon_variant BRCA-EU 1 51923888 51923888 single base substitution A G intron_variant BRCA-EU 1 51924156 51924156 single base substitution C A downstream_gene_variant BRCA-EU 1 51924156 51924156 single base substitution C A exon_variant BRCA-EU 1 51924156 51924156 single base substitution C A intron_variant BRCA-EU 1 51924802 51924802 single base substitution T A downstream_gene_variant BRCA-EU 1 51924802 51924802 single base substitution T A exon_variant BRCA-EU 1 51924802 51924802 single base substitution T A intron_variant BRCA-EU 1 51927966 51927966 single base substitution C A intron_variant BRCA-EU 1 51928008 51928008 single base substitution C G intron_variant BRCA-EU 1 51928128 51928128 single base substitution G C intron_variant BRCA-EU 1 51929233 51929233 single base substitution A C intron_variant BRCA-EU 1 51929632 51929632 single base substitution C T intron_variant BRCA-EU 1 51930676 51930676 single base substitution C G intron_variant BRCA-EU 1 51930745 51930745 single base substitution G C intron_variant BRCA-EU 1 51931679 51931679 insertion of <=200bp - A intron_variant BRCA-EU 1 51931679 51931679 insertion of <=200bp - A upstream_gene_variant BRCA-EU 1 51931856 51931856 single base substitution A G intron_variant BRCA-EU 1 51931856 51931856 single base substitution A G upstream_gene_variant BRCA-EU 1 51933643 51933643 single base substitution T A intron_variant BRCA-EU 1 51933643 51933643 single base substitution T A upstream_gene_variant BRCA-EU 1 51935051 51935051 single base substitution T G intron_variant BRCA-EU 1 51935051 51935051 single base substitution T G upstream_gene_variant BRCA-EU 1 51935816 51935816 single base substitution C T intron_variant BRCA-EU 1 51935816 51935816 single base substitution C T upstream_gene_variant BRCA-EU 1 51939712 51939712 single base substitution G A intron_variant BRCA-EU 1 51940043 51940043 single base substitution G A intron_variant BRCA-EU 1 51940045 51940045 single base substitution C A intron_variant BRCA-EU 1 51940447 51940447 single base substitution G T intron_variant BRCA-EU 1 51940496 51940496 single base substitution C G intron_variant BRCA-EU 1 51940789 51940789 single base substitution C T intron_variant BRCA-EU 1 51941546 51941546 single base substitution G A intron_variant BRCA-EU 1 51941772 51941772 single base substitution G C intron_variant BRCA-EU 1 51941839 51941839 single base substitution C G intron_variant BRCA-EU 1 51943760 51943760 single base substitution T C intron_variant BRCA-EU 1 51943981 51943981 single base substitution T C intron_variant BRCA-EU 1 51945637 51945637 single base substitution T A intron_variant BRCA-EU 1 51945643 51945643 single base substitution G A intron_variant BRCA-EU 1 51946425 51946425 single base substitution C A intron_variant BRCA-EU 1 51948029 51948029 single base substitution C T intron_variant BRCA-EU 1 51949361 51949361 single base substitution C A intron_variant BRCA-EU 1 51949767 51949767 single base substitution A C intron_variant BRCA-EU 1 51949785 51949785 single base substitution A T intron_variant BRCA-EU 1 51950054 51950054 single base substitution C T intron_variant BRCA-EU 1 51950079 51950079 single base substitution A T intron_variant BRCA-EU 1 51950478 51950478 single base substitution G A intron_variant BRCA-EU 1 51952921 51952921 single base substitution C T intron_variant BRCA-EU 1 51953621 51953621 deletion of <=200bp A - intron_variant BRCA-EU 1 51953621 51953621 insertion of <=200bp - A intron_variant BRCA-EU 1 51955879 51955879 single base substitution G C intron_variant BRCA-EU 1 51956342 51956342 single base substitution A T intron_variant BRCA-EU 1 51958189 51958189 single base substitution G A intron_variant BRCA-EU 1 51958934 51958934 single base substitution G C intron_variant BRCA-EU 1 51958966 51958966 single base substitution G A intron_variant BRCA-EU 1 51958977 51958977 single base substitution G A intron_variant BRCA-EU 1 51959308 51959308 single base substitution G C intron_variant BRCA-EU 1 51959475 51959475 single base substitution C T intron_variant BRCA-EU 1 51960296 51960296 single base substitution A C intron_variant BRCA-EU 1 51961031 51961031 single base substitution T A intron_variant BRCA-EU 1 51962453 51962453 single base substitution T C intron_variant BRCA-EU 1 51962859 51962859 single base substitution G C intron_variant BRCA-EU 1 51963762 51963762 single base substitution C T intron_variant BRCA-EU 1 51967820 51967820 single base substitution G T intron_variant BRCA-EU 1 51968015 51968015 single base substitution A T intron_variant BRCA-EU 1 51969036 51969036 single base substitution G A intron_variant BRCA-EU 1 51969074 51969074 single base substitution G A intron_variant BRCA-EU 1 51969574 51969574 deletion of <=200bp A - intron_variant BRCA-EU 1 51969582 51969582 single base substitution G A intron_variant BRCA-EU 1 51971237 51971237 single base substitution G A intron_variant BRCA-EU 1 51972092 51972092 single base substitution C A intron_variant BRCA-EU 1 51972182 51972182 deletion of <=200bp T - intron_variant BRCA-EU 1 51972726 51972726 single base substitution G C intron_variant BRCA-EU 1 51975435 51975435 single base substitution T C intron_variant BRCA-EU 1 51979334 51979334 single base substitution A T intron_variant BRCA-EU 1 51979626 51979626 single base substitution T C intron_variant BRCA-EU 1 51980325 51980325 single base substitution G C intron_variant BRCA-EU 1 51982458 51982458 single base substitution C T intron_variant BRCA-EU 1 51983166 51983166 deletion of <=200bp T - intron_variant BRCA-EU 1 51983853 51983853 single base substitution C T intron_variant BRCA-EU 1 51983980 51983980 single base substitution G A intron_variant BRCA-EU 1 51984929 51984929 single base substitution G A 5_prime_UTR_variant BRCA-EU 1 51984929 51984929 single base substitution G A upstream_gene_variant BRCA-EU 1 51985351 51985351 single base substitution A T upstream_gene_variant BRCA-EU 1 51985468 51985468 single base substitution G A upstream_gene_variant BRCA-EU 1 51987054 51987054 single base substitution G C upstream_gene_variant BRCA-EU 1 51989333 51989333 single base substitution G A upstream_gene_variant BRCA-EU 1 51989608 51989608 deletion of <=200bp A - upstream_gene_variant BRCA-FR 1 51834979 51834979 single base substitution G C intron_variant BRCA-FR 1 51839389 51839389 single base substitution G C intron_variant BRCA-FR 1 51842323 51842323 single base substitution G A intron_variant BRCA-FR 1 51863852 51863852 single base substitution A G intron_variant BRCA-FR 1 51863866 51863866 single base substitution T C intron_variant BRCA-FR 1 51865923 51865923 single base substitution G A downstream_gene_variant BRCA-FR 1 51865923 51865923 single base substitution G A intron_variant BRCA-FR 1 51890712 51890712 single base substitution C A intron_variant BRCA-FR 1 51890712 51890712 single base substitution C A upstream_gene_variant BRCA-FR 1 51890905 51890905 single base substitution C T intron_variant BRCA-FR 1 51890905 51890905 single base substitution C T upstream_gene_variant BRCA-FR 1 51902765 51902765 single base substitution T A intron_variant BRCA-FR 1 51919943 51919943 single base substitution T G downstream_gene_variant BRCA-FR 1 51919943 51919943 single base substitution T G intron_variant BRCA-FR 1 51924156 51924156 single base substitution C A downstream_gene_variant BRCA-FR 1 51924156 51924156 single base substitution C A exon_variant BRCA-FR 1 51924156 51924156 single base substitution C A intron_variant BRCA-FR 1 51946889 51946889 single base substitution G C intron_variant BRCA-FR 1 51949767 51949767 single base substitution A C intron_variant BRCA-FR 1 51952921 51952921 single base substitution C T intron_variant BRCA-FR 1 51956342 51956342 single base substitution A T intron_variant BRCA-FR 1 51972726 51972726 single base substitution G C intron_variant BRCA-FR 1 51979626 51979626 single base substitution T C intron_variant BRCA-FR 1 51983853 51983853 single base substitution C T intron_variant BRCA-KR 1 51905987 51905987 single base substitution A G intron_variant BRCA-UK 1 51818038 51818038 single base substitution G T downstream_gene_variant BRCA-UK 1 51853766 51853766 single base substitution A G intron_variant BRCA-UK 1 51859401 51859401 single base substitution T A downstream_gene_variant BRCA-UK 1 51859401 51859401 single base substitution T A intron_variant BRCA-UK 1 51863407 51863407 single base substitution T C intron_variant BRCA-UK 1 51918175 51918175 single base substitution C T intron_variant BRCA-UK 1 51918189 51918189 single base substitution C T intron_variant BRCA-UK 1 51951721 51951721 single base substitution C A intron_variant BRCA-US 1 51864825 51864825 single base substitution C A downstream_gene_variant BRCA-US 1 51864825 51864825 single base substitution C A exon_variant BRCA-US 1 51864825 51864825 single base substitution C A missense_variant G321V 962G>T BRCA-US 1 51864825 51864825 single base substitution C A missense_variant G510V 1529G>T BRCA-US 1 51864825 51864825 single base substitution C A missense_variant G644V 1931G>T BRCA-US 1 51866605 51866605 single base substitution G T downstream_gene_variant BRCA-US 1 51866605 51866605 single base substitution G T exon_variant BRCA-US 1 51866605 51866605 single base substitution G T missense_variant P312T 934C>A BRCA-US 1 51866605 51866605 single base substitution G T missense_variant P501T 1501C>A BRCA-US 1 51866605 51866605 single base substitution G T missense_variant P635T 1903C>A BRCA-US 1 51869127 51869127 single base substitution A T exon_variant BRCA-US 1 51869127 51869127 single base substitution A T synonymous_variant V262V 786T>A BRCA-US 1 51869127 51869127 single base substitution A T synonymous_variant V451V 1353T>A BRCA-US 1 51869127 51869127 single base substitution A T synonymous_variant V585V 1755T>A BRCA-US 1 51869127 51869127 single base substitution A T upstream_gene_variant BRCA-US 1 51874002 51874002 single base substitution G C intron_variant BRCA-US 1 51874002 51874002 single base substitution G C missense_variant I103M 309C>G BRCA-US 1 51874002 51874002 single base substitution G C missense_variant I426M 1278C>G BRCA-US 1 51874002 51874002 single base substitution G C splice_region_variant BRCA-US 1 51874002 51874002 single base substitution G C upstream_gene_variant BRCA-US 1 51906092 51906092 single base substitution A G missense_variant S323P 967T>C BRCA-US 1 51910583 51910583 single base substitution G C stop_gained S311* 932C>G BRCA-US 1 51912687 51912687 single base substitution C A missense_variant V248F 742G>T BTCA-JP 1 51860042 51860042 single base substitution T C downstream_gene_variant BTCA-JP 1 51860042 51860042 single base substitution T C exon_variant BTCA-JP 1 51860042 51860042 single base substitution T C intron_variant BTCA-JP 1 51905987 51905987 single base substitution A G intron_variant BTCA-JP 1 51912789 51912789 deletion of <=200bp A - intron_variant BTCA-JP 1 51937329 51937329 deletion of <=200bp A - intron_variant CESC-US 1 51848045 51848045 single base substitution T C intron_variant CESC-US 1 51869122 51869122 single base substitution G C exon_variant CESC-US 1 51869122 51869122 single base substitution G C missense_variant S264C 791C>G CESC-US 1 51869122 51869122 single base substitution G C missense_variant S453C 1358C>G CESC-US 1 51869122 51869122 single base substitution G C missense_variant S587C 1760C>G CESC-US 1 51869122 51869122 single base substitution G C upstream_gene_variant CESC-US 1 51875224 51875224 single base substitution C A exon_variant CESC-US 1 51875224 51875224 single base substitution C A missense_variant A420S 1258G>T CESC-US 1 51875224 51875224 single base substitution C A missense_variant A97S 289G>T CESC-US 1 51875362 51875362 single base substitution G C exon_variant CESC-US 1 51875362 51875362 single base substitution G C missense_variant Q374E 1120C>G CESC-US 1 51875362 51875362 single base substitution G C missense_variant Q51E 151C>G CESC-US 1 51910614 51910614 single base substitution G C missense_variant H301D 901C>G CESC-US 1 51912653 51912653 single base substitution G C missense_variant S259C 776C>G CESC-US 1 51912772 51912772 single base substitution A T synonymous_variant V219V 657T>A CLLE-ES 1 51832811 51832811 single base substitution G A intron_variant CLLE-ES 1 51851868 51851868 single base substitution T G intron_variant CLLE-ES 1 51874005 51874005 single base substitution C G intron_variant CLLE-ES 1 51874005 51874005 single base substitution C G splice_acceptor_variant CLLE-ES 1 51874005 51874005 single base substitution C G upstream_gene_variant CLLE-ES 1 51905126 51905126 single base substitution T C intron_variant CLLE-ES 1 51917688 51917688 single base substitution G C intron_variant CLLE-ES 1 51918382 51918382 single base substitution C T downstream_gene_variant CLLE-ES 1 51918382 51918382 single base substitution C T intron_variant CLLE-ES 1 51918927 51918927 single base substitution A C downstream_gene_variant CLLE-ES 1 51918927 51918927 single base substitution A C intron_variant CLLE-ES 1 51919699 51919699 single base substitution G C downstream_gene_variant CLLE-ES 1 51919699 51919699 single base substitution G C intron_variant CLLE-ES 1 51953967 51953967 single base substitution C T intron_variant CLLE-ES 1 51956937 51956937 single base substitution A C intron_variant CLLE-ES 1 51964782 51964782 single base substitution C G intron_variant CLLE-ES 1 51965776 51965776 single base substitution T C intron_variant CLLE-ES 1 51965841 51965841 single base substitution C T intron_variant CLLE-ES 1 51966740 51966740 single base substitution C T intron_variant CLLE-ES 1 51966805 51966805 single base substitution T G intron_variant CLLE-ES 1 51983199 51983199 single base substitution A G intron_variant CLLE-ES 1 51983238 51983238 single base substitution A G intron_variant CLLE-ES 1 51987819 51987819 single base substitution A T upstream_gene_variant COAD-US 1 51826993 51826993 single base substitution A T missense_variant D475E 1425T>A COAD-US 1 51826993 51826993 single base substitution A T missense_variant D664E 1992T>A COAD-US 1 51826993 51826993 single base substitution A T missense_variant D798E 2394T>A COAD-US 1 51827022 51827022 deletion of <=200bp T - frameshift_variant R466 COAD-US 1 51827022 51827022 deletion of <=200bp T - frameshift_variant R655 COAD-US 1 51827022 51827022 deletion of <=200bp T - frameshift_variant R789 COAD-US 1 51860103 51860103 single base substitution T C exon_variant COAD-US 1 51860103 51860103 single base substitution T C missense_variant H367R 1100A>G COAD-US 1 51860103 51860103 single base substitution T C missense_variant H556R 1667A>G COAD-US 1 51860103 51860103 single base substitution T C missense_variant H690R 2069A>G COAD-US 1 51864840 51864840 deletion of <=200bp A - downstream_gene_variant COAD-US 1 51864840 51864840 deletion of <=200bp A - splice_region_variant COAD-US 1 51868160 51868160 single base substitution C G downstream_gene_variant COAD-US 1 51868160 51868160 single base substitution C G exon_variant COAD-US 1 51868160 51868160 single base substitution C G missense_variant G287A 860G>C COAD-US 1 51868160 51868160 single base substitution C G missense_variant G476A 1427G>C COAD-US 1 51868160 51868160 single base substitution C G missense_variant G610A 1829G>C COAD-US 1 51868160 51868160 single base substitution C G upstream_gene_variant COAD-US 1 51871753 51871753 single base substitution C A exon_variant COAD-US 1 51871753 51871753 single base substitution C A intron_variant COAD-US 1 51871753 51871753 single base substitution C A missense_variant D178Y 532G>T COAD-US 1 51871753 51871753 single base substitution C A missense_variant D501Y 1501G>T COAD-US 1 51871753 51871753 single base substitution C A upstream_gene_variant COAD-US 1 51875222 51875222 single base substitution A C exon_variant COAD-US 1 51875222 51875222 single base substitution A C synonymous_variant A420A 1260T>G COAD-US 1 51875222 51875222 single base substitution A C synonymous_variant A97A 291T>G COAD-US 1 51887524 51887524 single base substitution C A exon_variant COAD-US 1 51887524 51887524 single base substitution C A missense_variant K26N 78G>T COAD-US 1 51887524 51887524 single base substitution C A missense_variant K349N 1047G>T COAD-US 1 51906072 51906072 single base substitution G T missense_variant F329L 987C>A COAD-US 1 51929380 51929380 single base substitution G A 3_prime_UTR_variant COAD-US 1 51929380 51929380 single base substitution G A exon_variant COAD-US 1 51929380 51929380 single base substitution G A missense_variant L156F 466C>T COCA-CN 1 51822532 51822532 single base substitution G T intron_variant COCA-CN 1 51826789 51826789 single base substitution C A intron_variant COCA-CN 1 51826932 51826932 single base substitution C A missense_variant D496Y 1486G>T COCA-CN 1 51826932 51826932 single base substitution C A missense_variant D685Y 2053G>T COCA-CN 1 51826932 51826932 single base substitution C A missense_variant D819Y 2455G>T COCA-CN 1 51829615 51829615 single base substitution G A missense_variant S438L 1313C>T COCA-CN 1 51829615 51829615 single base substitution G A missense_variant S627L 1880C>T COCA-CN 1 51829615 51829615 single base substitution G A missense_variant S761L 2282C>T COCA-CN 1 51853008 51853008 single base substitution G A intron_variant COCA-CN 1 51853027 51853027 single base substitution C G intron_variant COCA-CN 1 51853150 51853150 single base substitution T C intron_variant COCA-CN 1 51866697 51866697 single base substitution A G downstream_gene_variant COCA-CN 1 51866697 51866697 single base substitution A G exon_variant COCA-CN 1 51866697 51866697 single base substitution A G intron_variant COCA-CN 1 51869077 51869077 single base substitution A C downstream_gene_variant COCA-CN 1 51869077 51869077 single base substitution A C intron_variant COCA-CN 1 51869077 51869077 single base substitution A C upstream_gene_variant COCA-CN 1 51871652 51871652 single base substitution A C exon_variant COCA-CN 1 51871652 51871652 single base substitution A C intron_variant COCA-CN 1 51871652 51871652 single base substitution A C missense_variant S211R 633T>G COCA-CN 1 51871652 51871652 single base substitution A C missense_variant S534R 1602T>G COCA-CN 1 51871652 51871652 single base substitution A C upstream_gene_variant COCA-CN 1 51871653 51871653 single base substitution C T exon_variant COCA-CN 1 51871653 51871653 single base substitution C T intron_variant COCA-CN 1 51871653 51871653 single base substitution C T missense_variant S211N 632G>A COCA-CN 1 51871653 51871653 single base substitution C T missense_variant S534N 1601G>A COCA-CN 1 51871653 51871653 single base substitution C T upstream_gene_variant COCA-CN 1 51873800 51873800 single base substitution G T intron_variant COCA-CN 1 51873800 51873800 single base substitution G T splice_region_variant COCA-CN 1 51873800 51873800 single base substitution G T upstream_gene_variant COCA-CN 1 51926632 51926632 single base substitution A G downstream_gene_variant COCA-CN 1 51926632 51926632 single base substitution A G exon_variant COCA-CN 1 51926632 51926632 single base substitution A G intron_variant COCA-CN 1 51934366 51934366 single base substitution A T intron_variant COCA-CN 1 51934366 51934366 single base substitution A T upstream_gene_variant COCA-CN 1 51934438 51934438 single base substitution C T intron_variant COCA-CN 1 51934438 51934438 single base substitution C T upstream_gene_variant COCA-CN 1 51938440 51938440 single base substitution C A intron_variant COCA-CN 1 51955977 51955977 single base substitution C G intron_variant EOPC-DE 1 51867941 51867941 single base substitution C T downstream_gene_variant EOPC-DE 1 51867941 51867941 single base substitution C T intron_variant EOPC-DE 1 51867941 51867941 single base substitution C T upstream_gene_variant EOPC-DE 1 51867954 51867954 single base substitution G A downstream_gene_variant EOPC-DE 1 51867954 51867954 single base substitution G A intron_variant EOPC-DE 1 51867954 51867954 single base substitution G A upstream_gene_variant EOPC-DE 1 51867973 51867973 single base substitution C T downstream_gene_variant EOPC-DE 1 51867973 51867973 single base substitution C T intron_variant EOPC-DE 1 51867973 51867973 single base substitution C T upstream_gene_variant EOPC-DE 1 51959882 51959882 single base substitution T C intron_variant EOPC-DE 1 51984961 51984961 single base substitution G C 5_prime_UTR_variant EOPC-DE 1 51984961 51984961 single base substitution G C upstream_gene_variant ESAD-UK 1 51816078 51816078 single base substitution T G downstream_gene_variant ESAD-UK 1 51821505 51821505 single base substitution G A 3_prime_UTR_variant ESAD-UK 1 51821505 51821505 single base substitution G A downstream_gene_variant ESAD-UK 1 51824158 51824158 single base substitution A G intron_variant ESAD-UK 1 51825591 51825591 single base substitution T C intron_variant ESAD-UK 1 51828314 51828314 single base substitution T A intron_variant ESAD-UK 1 51831557 51831557 deletion of <=200bp G - intron_variant ESAD-UK 1 51833086 51833086 single base substitution G A intron_variant ESAD-UK 1 51836949 51836949 single base substitution C G intron_variant ESAD-UK 1 51839057 51839057 single base substitution C G intron_variant ESAD-UK 1 51839540 51839540 single base substitution T C intron_variant ESAD-UK 1 51840296 51840296 insertion of <=200bp - A intron_variant ESAD-UK 1 51844609 51844609 single base substitution A C intron_variant ESAD-UK 1 51844689 51844689 single base substitution A G intron_variant ESAD-UK 1 51848370 51848370 single base substitution C T intron_variant ESAD-UK 1 51851756 51851756 single base substitution A C intron_variant ESAD-UK 1 51851937 51851937 single base substitution G C intron_variant ESAD-UK 1 51860006 51860006 insertion of <=200bp - A downstream_gene_variant ESAD-UK 1 51860006 51860006 insertion of <=200bp - A exon_variant ESAD-UK 1 51860006 51860006 insertion of <=200bp - A intron_variant ESAD-UK 1 51860872 51860872 single base substitution T C intron_variant ESAD-UK 1 51861636 51861636 insertion of <=200bp - A intron_variant ESAD-UK 1 51864124 51864124 single base substitution G C downstream_gene_variant ESAD-UK 1 51864124 51864124 single base substitution G C intron_variant ESAD-UK 1 51866940 51866940 single base substitution C T downstream_gene_variant ESAD-UK 1 51866940 51866940 single base substitution C T intron_variant ESAD-UK 1 51866940 51866940 single base substitution C T upstream_gene_variant ESAD-UK 1 51868064 51868064 insertion of <=200bp - T downstream_gene_variant ESAD-UK 1 51868064 51868064 insertion of <=200bp - T intron_variant ESAD-UK 1 51868064 51868064 insertion of <=200bp - T upstream_gene_variant ESAD-UK 1 51874110 51874110 deletion of <=200bp T - intron_variant ESAD-UK 1 51874110 51874110 deletion of <=200bp T - upstream_gene_variant ESAD-UK 1 51874244 51874244 single base substitution G A intron_variant ESAD-UK 1 51874245 51874245 single base substitution C A intron_variant ESAD-UK 1 51875195 51875195 single base substitution G T intron_variant ESAD-UK 1 51875409 51875409 single base substitution G C intron_variant ESAD-UK 1 51876536 51876536 single base substitution G A intron_variant ESAD-UK 1 51879258 51879258 single base substitution C G intron_variant ESAD-UK 1 51883581 51883581 single base substitution A C intron_variant ESAD-UK 1 51883699 51883699 single base substitution A C intron_variant ESAD-UK 1 51884892 51884892 single base substitution A T intron_variant ESAD-UK 1 51885234 51885234 single base substitution C T intron_variant ESAD-UK 1 51885428 51885428 single base substitution T G intron_variant ESAD-UK 1 51886811 51886811 single base substitution C T intron_variant ESAD-UK 1 51890260 51890260 single base substitution G C intron_variant ESAD-UK 1 51890260 51890260 single base substitution G C upstream_gene_variant ESAD-UK 1 51890579 51890579 single base substitution A T intron_variant ESAD-UK 1 51890579 51890579 single base substitution A T upstream_gene_variant ESAD-UK 1 51892510 51892510 insertion of <=200bp - TCTA intron_variant ESAD-UK 1 51892510 51892510 insertion of <=200bp - TCTA upstream_gene_variant ESAD-UK 1 51892536 51892536 single base substitution T C intron_variant ESAD-UK 1 51892536 51892536 single base substitution T C upstream_gene_variant ESAD-UK 1 51892737 51892737 single base substitution T C intron_variant ESAD-UK 1 51892737 51892737 single base substitution T C upstream_gene_variant ESAD-UK 1 51892752 51892752 single base substitution G C intron_variant ESAD-UK 1 51892752 51892752 single base substitution G C upstream_gene_variant ESAD-UK 1 51893944 51893944 single base substitution A T intron_variant ESAD-UK 1 51893944 51893944 single base substitution A T upstream_gene_variant ESAD-UK 1 51894270 51894270 single base substitution G A intron_variant ESAD-UK 1 51895680 51895680 single base substitution C T intron_variant ESAD-UK 1 51900421 51900421 single base substitution G A intron_variant ESAD-UK 1 51903446 51903446 single base substitution C T intron_variant ESAD-UK 1 51911529 51911529 single base substitution C A intron_variant ESAD-UK 1 51913038 51913038 single base substitution C A intron_variant ESAD-UK 1 51913780 51913780 single base substitution C T missense_variant E197K 589G>A ESAD-UK 1 51913953 51913953 single base substitution G C intron_variant ESAD-UK 1 51915913 51915913 deletion of <=200bp G - intron_variant ESAD-UK 1 51918125 51918125 single base substitution T G intron_variant ESAD-UK 1 51923277 51923277 single base substitution C T downstream_gene_variant ESAD-UK 1 51923277 51923277 single base substitution C T exon_variant ESAD-UK 1 51923277 51923277 single base substitution C T intron_variant ESAD-UK 1 51924098 51924098 single base substitution C T downstream_gene_variant ESAD-UK 1 51924098 51924098 single base substitution C T exon_variant ESAD-UK 1 51924098 51924098 single base substitution C T intron_variant ESAD-UK 1 51927052 51927052 single base substitution G C intron_variant ESAD-UK 1 51927528 51927545 deletion of <=200bp TAGCATTCAAAGAGTATG - intron_variant ESAD-UK 1 51929410 51929410 single base substitution G T 3_prime_UTR_variant ESAD-UK 1 51929410 51929410 single base substitution G T exon_variant ESAD-UK 1 51929410 51929410 single base substitution G T missense_variant L146M 436C>A ESAD-UK 1 51929837 51929837 single base substitution T C intron_variant ESAD-UK 1 51930332 51930332 single base substitution A G intron_variant ESAD-UK 1 51932031 51932031 single base substitution C T intron_variant ESAD-UK 1 51932031 51932031 single base substitution C T upstream_gene_variant ESAD-UK 1 51932333 51932333 single base substitution A G intron_variant ESAD-UK 1 51932333 51932333 single base substitution A G upstream_gene_variant ESAD-UK 1 51933641 51933641 single base substitution A T intron_variant ESAD-UK 1 51933641 51933641 single base substitution A T upstream_gene_variant ESAD-UK 1 51936927 51936927 single base substitution C T intron_variant ESAD-UK 1 51937556 51937556 single base substitution G A intron_variant ESAD-UK 1 51938470 51938470 single base substitution G A intron_variant ESAD-UK 1 51953206 51953206 single base substitution C G intron_variant ESAD-UK 1 51953312 51953312 single base substitution A G intron_variant ESAD-UK 1 51954976 51954976 insertion of <=200bp - TATG intron_variant ESAD-UK 1 51957173 51957173 single base substitution C T intron_variant ESAD-UK 1 51957731 51957731 single base substitution G C intron_variant ESAD-UK 1 51959008 51959008 single base substitution G A intron_variant ESAD-UK 1 51959575 51959575 single base substitution C T intron_variant ESAD-UK 1 51959604 51959611 deletion of <=200bp ACTAAATT - intron_variant ESAD-UK 1 51960184 51960184 single base substitution T C intron_variant ESAD-UK 1 51960980 51960980 single base substitution G A intron_variant ESAD-UK 1 51961704 51961704 single base substitution T A intron_variant ESAD-UK 1 51963425 51963425 single base substitution C T intron_variant ESAD-UK 1 51963729 51963729 deletion of <=200bp A - intron_variant ESAD-UK 1 51965251 51965251 single base substitution C T intron_variant ESAD-UK 1 51966047 51966047 single base substitution C T intron_variant ESAD-UK 1 51966137 51966137 insertion of <=200bp - T intron_variant ESAD-UK 1 51967412 51967412 single base substitution A C intron_variant ESAD-UK 1 51971251 51971251 single base substitution G A intron_variant ESAD-UK 1 51971757 51971757 single base substitution C T intron_variant ESAD-UK 1 51973340 51973340 single base substitution A C intron_variant ESAD-UK 1 51974001 51974002 deletion of <=200bp AG - intron_variant ESAD-UK 1 51978512 51978512 single base substitution T C intron_variant ESAD-UK 1 51980047 51980047 single base substitution T A intron_variant ESAD-UK 1 51980287 51980287 insertion of <=200bp - ATA intron_variant ESAD-UK 1 51982749 51982749 single base substitution A T intron_variant ESAD-UK 1 51983369 51983369 single base substitution A C intron_variant ESAD-UK 1 51989092 51989092 single base substitution A C upstream_gene_variant ESAD-UK 1 51989608 51989608 single base substitution A G upstream_gene_variant ESCA-CN 1 51820548 51820548 insertion of <=200bp - T 3_prime_UTR_variant ESCA-CN 1 51820548 51820548 insertion of <=200bp - T downstream_gene_variant ESCA-CN 1 51826865 51826865 single base substitution C G missense_variant S518T 1553G>C ESCA-CN 1 51826865 51826865 single base substitution C G missense_variant S707T 2120G>C ESCA-CN 1 51826865 51826865 single base substitution C G missense_variant S841T 2522G>C ESCA-CN 1 51929630 51929630 single base substitution T G intron_variant GBM-US 1 51829678 51829678 single base substitution C T missense_variant R417H 1250G>A GBM-US 1 51829678 51829678 single base substitution C T missense_variant R606H 1817G>A GBM-US 1 51829678 51829678 single base substitution C T missense_variant R740H 2219G>A KIRC-US 1 51869130 51869130 deletion of <=200bp T - exon_variant KIRC-US 1 51869130 51869130 deletion of <=200bp T - frameshift_variant K261 KIRC-US 1 51869130 51869130 deletion of <=200bp T - frameshift_variant K450 KIRC-US 1 51869130 51869130 deletion of <=200bp T - frameshift_variant K584 KIRC-US 1 51869130 51869130 deletion of <=200bp T - upstream_gene_variant KIRC-US 1 51887534 51887534 single base substitution G C exon_variant KIRC-US 1 51887534 51887534 single base substitution G C splice_region_variant KIRP-US 1 51946986 51946986 single base substitution A C missense_variant L12V 34T>G KIRP-US 1 51946986 51946986 single base substitution A C splice_region_variant LAML-KR 1 51825322 51825322 single base substitution C T intron_variant LAML-KR 1 51855831 51855831 single base substitution C T downstream_gene_variant LAML-KR 1 51855831 51855831 single base substitution C T intron_variant LAML-KR 1 51910863 51910863 single base substitution T A intron_variant LAML-KR 1 51944362 51944362 single base substitution T G intron_variant LAML-KR 1 51959010 51959010 single base substitution A G intron_variant LAML-KR 1 51976397 51976397 single base substitution C A intron_variant LICA-CN 1 51871754 51871754 single base substitution T A exon_variant LICA-CN 1 51871754 51871754 single base substitution T A intron_variant LICA-CN 1 51871754 51871754 single base substitution T A missense_variant K177N 531A>T LICA-CN 1 51871754 51871754 single base substitution T A missense_variant K500N 1500A>T LICA-CN 1 51871754 51871754 single base substitution T A upstream_gene_variant LICA-CN 1 51926816 51926816 single base substitution C T 3_prime_UTR_variant LICA-CN 1 51926816 51926816 single base substitution C T exon_variant LICA-CN 1 51926816 51926816 single base substitution C T missense_variant E170K 508G>A LICA-FR 1 51822432 51822432 single base substitution C T synonymous_variant Q554Q 1662G>A LICA-FR 1 51822432 51822432 single base substitution C T synonymous_variant Q743Q 2229G>A LICA-FR 1 51822432 51822432 single base substitution C T synonymous_variant Q877Q 2631G>A LICA-FR 1 51837693 51837693 single base substitution G T intron_variant LICA-FR 1 51840327 51840327 single base substitution T C intron_variant LICA-FR 1 51840570 51840570 single base substitution C T intron_variant LICA-FR 1 51851715 51851715 single base substitution T C intron_variant LICA-FR 1 51853027 51853027 single base substitution C G intron_variant LICA-FR 1 51853150 51853150 single base substitution T C intron_variant LICA-FR 1 51853608 51853608 single base substitution C G intron_variant LICA-FR 1 51853800 51853800 single base substitution C A intron_variant LICA-FR 1 51853846 51853846 single base substitution A C intron_variant LICA-FR 1 51854321 51854321 single base substitution C A intron_variant LICA-FR 1 51855371 51855371 single base substitution T G downstream_gene_variant LICA-FR 1 51855371 51855371 single base substitution T G intron_variant LICA-FR 1 51855616 51855616 single base substitution T A downstream_gene_variant LICA-FR 1 51855616 51855616 single base substitution T A intron_variant LICA-FR 1 51856497 51856497 single base substitution G A downstream_gene_variant LICA-FR 1 51856497 51856497 single base substitution G A intron_variant LICA-FR 1 51856669 51856669 single base substitution A T downstream_gene_variant LICA-FR 1 51856669 51856669 single base substitution A T intron_variant LICA-FR 1 51870050 51870050 deletion of <=200bp A - intron_variant LICA-FR 1 51870050 51870050 deletion of <=200bp A - upstream_gene_variant LICA-FR 1 51875734 51875734 deletion of <=200bp A - intron_variant LICA-FR 1 51892490 51892490 insertion of <=200bp - TCTC intron_variant LICA-FR 1 51892490 51892490 insertion of <=200bp - TCTC upstream_gene_variant LICA-FR 1 51919288 51919288 single base substitution C A downstream_gene_variant LICA-FR 1 51919288 51919288 single base substitution C A intron_variant LICA-FR 1 51949348 51949348 single base substitution C A intron_variant LICA-FR 1 51961209 51961209 single base substitution A C intron_variant LICA-FR 1 51962453 51962453 single base substitution T C intron_variant LICA-FR 1 51973010 51973010 single base substitution G T intron_variant LICA-FR 1 51981877 51981877 single base substitution C T intron_variant LIHC-US 1 51864724 51864724 single base substitution T C downstream_gene_variant LIHC-US 1 51864724 51864724 single base substitution T C exon_variant LIHC-US 1 51864724 51864724 single base substitution T C missense_variant N355D 1063A>G LIHC-US 1 51864724 51864724 single base substitution T C missense_variant N544D 1630A>G LIHC-US 1 51864724 51864724 single base substitution T C missense_variant N678D 2032A>G LINC-JP 1 51834270 51834270 single base substitution C T intron_variant LINC-JP 1 51844874 51844874 single base substitution C G intron_variant LINC-JP 1 51848401 51848401 single base substitution T A intron_variant LINC-JP 1 51849450 51849450 single base substitution C A intron_variant LINC-JP 1 51856089 51856089 single base substitution T A downstream_gene_variant LINC-JP 1 51856089 51856089 single base substitution T A intron_variant LINC-JP 1 51860042 51860042 single base substitution T C downstream_gene_variant LINC-JP 1 51860042 51860042 single base substitution T C exon_variant LINC-JP 1 51860042 51860042 single base substitution T C intron_variant LINC-JP 1 51873771 51873771 single base substitution C A intron_variant LINC-JP 1 51873771 51873771 single base substitution C A upstream_gene_variant LINC-JP 1 51879984 51879984 single base substitution C T intron_variant LINC-JP 1 51889035 51889035 single base substitution A T intron_variant LINC-JP 1 51889035 51889035 single base substitution A T upstream_gene_variant LINC-JP 1 51896701 51896701 single base substitution A C intron_variant LINC-JP 1 51899554 51899554 single base substitution C G intron_variant LINC-JP 1 51924545 51924545 insertion of <=200bp - TA downstream_gene_variant LINC-JP 1 51924545 51924545 insertion of <=200bp - TA intron_variant LINC-JP 1 51926323 51926323 single base substitution T G downstream_gene_variant LINC-JP 1 51926323 51926323 single base substitution T G intron_variant LINC-JP 1 51926848 51926848 single base substitution G A intron_variant LINC-JP 1 51929372 51929373 deletion of <=200bp AG - 3_prime_UTR_variant LINC-JP 1 51929372 51929373 deletion of <=200bp AG - exon_variant LINC-JP 1 51929372 51929373 deletion of <=200bp AG - frameshift_variant S158 LINC-JP 1 51936903 51936903 single base substitution T C intron_variant LINC-JP 1 51938527 51938527 single base substitution C A splice_region_variant LINC-JP 1 51954813 51954813 deletion of <=200bp A - intron_variant LIRI-JP 1 51820563 51820563 single base substitution T A 3_prime_UTR_variant LIRI-JP 1 51820563 51820563 single base substitution T A downstream_gene_variant LIRI-JP 1 51821041 51821041 single base substitution T C 3_prime_UTR_variant LIRI-JP 1 51821041 51821041 single base substitution T C downstream_gene_variant LIRI-JP 1 51824622 51824622 single base substitution C T intron_variant LIRI-JP 1 51825045 51825045 single base substitution G T intron_variant LIRI-JP 1 51827293 51827293 single base substitution A C intron_variant LIRI-JP 1 51828116 51828116 single base substitution G C intron_variant LIRI-JP 1 51829259 51829259 single base substitution T C intron_variant LIRI-JP 1 51830695 51830695 single base substitution G T intron_variant LIRI-JP 1 51831394 51831394 single base substitution A C intron_variant LIRI-JP 1 51832177 51832177 deletion of <=200bp T - intron_variant LIRI-JP 1 51832464 51832464 single base substitution C A intron_variant LIRI-JP 1 51833815 51833815 single base substitution A C intron_variant LIRI-JP 1 51834089 51834089 single base substitution G A intron_variant LIRI-JP 1 51839528 51839528 single base substitution C T intron_variant LIRI-JP 1 51840741 51840741 single base substitution T C intron_variant LIRI-JP 1 51840983 51840983 single base substitution T C intron_variant LIRI-JP 1 51841589 51841589 single base substitution C A intron_variant LIRI-JP 1 51847300 51847300 single base substitution T A intron_variant LIRI-JP 1 51847734 51847734 single base substitution A G intron_variant LIRI-JP 1 51850213 51850213 single base substitution T C intron_variant LIRI-JP 1 51850413 51850413 single base substitution T C intron_variant LIRI-JP 1 51850905 51850905 single base substitution A G intron_variant LIRI-JP 1 51850966 51850966 single base substitution T C intron_variant LIRI-JP 1 51852005 51852005 single base substitution G C intron_variant LIRI-JP 1 51857099 51857099 single base substitution C A downstream_gene_variant LIRI-JP 1 51857099 51857099 single base substitution C A intron_variant LIRI-JP 1 51857714 51857714 single base substitution A T downstream_gene_variant LIRI-JP 1 51857714 51857714 single base substitution A T intron_variant LIRI-JP 1 51857866 51857866 single base substitution A G downstream_gene_variant LIRI-JP 1 51857866 51857866 single base substitution A G intron_variant LIRI-JP 1 51862973 51862973 single base substitution T C intron_variant LIRI-JP 1 51866488 51866488 single base substitution T G downstream_gene_variant LIRI-JP 1 51866488 51866488 single base substitution T G intron_variant LIRI-JP 1 51867113 51867113 single base substitution T G downstream_gene_variant LIRI-JP 1 51867113 51867113 single base substitution T G intron_variant LIRI-JP 1 51867113 51867113 single base substitution T G upstream_gene_variant LIRI-JP 1 51873622 51873622 single base substitution T A intron_variant LIRI-JP 1 51873622 51873622 single base substitution T A upstream_gene_variant LIRI-JP 1 51874549 51874549 single base substitution G A intron_variant LIRI-JP 1 51877101 51877101 single base substitution T C intron_variant LIRI-JP 1 51878864 51878864 single base substitution C A intron_variant LIRI-JP 1 51878865 51878865 single base substitution C T intron_variant LIRI-JP 1 51879727 51879727 single base substitution C T intron_variant LIRI-JP 1 51880202 51880202 single base substitution C A intron_variant LIRI-JP 1 51881337 51881337 single base substitution G A intron_variant LIRI-JP 1 51882179 51882179 single base substitution G C intron_variant LIRI-JP 1 51882808 51882808 single base substitution T G intron_variant LIRI-JP 1 51886286 51886286 single base substitution A T intron_variant LIRI-JP 1 51887916 51887916 single base substitution T C intron_variant LIRI-JP 1 51887916 51887916 single base substitution T C upstream_gene_variant LIRI-JP 1 51888158 51888158 single base substitution A C intron_variant LIRI-JP 1 51888158 51888158 single base substitution A C upstream_gene_variant LIRI-JP 1 51889806 51889806 single base substitution T A intron_variant LIRI-JP 1 51889806 51889806 single base substitution T A upstream_gene_variant LIRI-JP 1 51890476 51890476 single base substitution G A intron_variant LIRI-JP 1 51890476 51890476 single base substitution G A upstream_gene_variant LIRI-JP 1 51891155 51891155 single base substitution G C intron_variant LIRI-JP 1 51891155 51891155 single base substitution G C upstream_gene_variant LIRI-JP 1 51891737 51891737 single base substitution G C intron_variant LIRI-JP 1 51891737 51891737 single base substitution G C upstream_gene_variant LIRI-JP 1 51893642 51893642 single base substitution T C intron_variant LIRI-JP 1 51893642 51893642 single base substitution T C upstream_gene_variant LIRI-JP 1 51893890 51893890 single base substitution T A intron_variant LIRI-JP 1 51893890 51893890 single base substitution T A upstream_gene_variant LIRI-JP 1 51894062 51894062 single base substitution T A intron_variant LIRI-JP 1 51895652 51895652 single base substitution T A intron_variant LIRI-JP 1 51897415 51897415 single base substitution G A intron_variant LIRI-JP 1 51898475 51898475 single base substitution G C intron_variant LIRI-JP 1 51898765 51898765 single base substitution T C intron_variant LIRI-JP 1 51900080 51900080 single base substitution C T intron_variant LIRI-JP 1 51900456 51900456 single base substitution G C intron_variant LIRI-JP 1 51903305 51903305 single base substitution C T intron_variant LIRI-JP 1 51905726 51905726 single base substitution T C intron_variant LIRI-JP 1 51905788 51905788 single base substitution G A intron_variant LIRI-JP 1 51906012 51906015 deletion of <=200bp TACA - splice_region_variant LIRI-JP 1 51906456 51906456 single base substitution T C intron_variant LIRI-JP 1 51907559 51907559 single base substitution T C intron_variant LIRI-JP 1 51907979 51907979 single base substitution C G intron_variant LIRI-JP 1 51908333 51908333 single base substitution C A intron_variant LIRI-JP 1 51908503 51908507 deletion of <=200bp GAGTT - intron_variant LIRI-JP 1 51912738 51912738 single base substitution T C missense_variant I231V 691A>G LIRI-JP 1 51913744 51913744 single base substitution A G synonymous_variant L209L 625T>C LIRI-JP 1 51913750 51913750 single base substitution G C missense_variant P207A 619C>G LIRI-JP 1 51914688 51914688 single base substitution T C intron_variant LIRI-JP 1 51915372 51915372 single base substitution A T intron_variant LIRI-JP 1 51917308 51917308 single base substitution T C intron_variant LIRI-JP 1 51917808 51917808 single base substitution C A intron_variant LIRI-JP 1 51918668 51918670 deletion of <=200bp CTC - downstream_gene_variant LIRI-JP 1 51918668 51918670 deletion of <=200bp CTC - intron_variant LIRI-JP 1 51919486 51919486 single base substitution C A downstream_gene_variant LIRI-JP 1 51919486 51919486 single base substitution C A intron_variant LIRI-JP 1 51919860 51919860 single base substitution T C downstream_gene_variant LIRI-JP 1 51919860 51919860 single base substitution T C intron_variant LIRI-JP 1 51920503 51920503 single base substitution T C downstream_gene_variant LIRI-JP 1 51920503 51920503 single base substitution T C intron_variant LIRI-JP 1 51922143 51922143 single base substitution C A downstream_gene_variant LIRI-JP 1 51922143 51922143 single base substitution C A intron_variant LIRI-JP 1 51923471 51923471 single base substitution G A downstream_gene_variant LIRI-JP 1 51923471 51923471 single base substitution G A exon_variant LIRI-JP 1 51923471 51923471 single base substitution G A intron_variant LIRI-JP 1 51924524 51924524 single base substitution G T downstream_gene_variant LIRI-JP 1 51924524 51924524 single base substitution G T intron_variant LIRI-JP 1 51925451 51925451 single base substitution T C downstream_gene_variant LIRI-JP 1 51925451 51925451 single base substitution T C intron_variant LIRI-JP 1 51926124 51926124 single base substitution T A downstream_gene_variant LIRI-JP 1 51926124 51926124 single base substitution T A intron_variant LIRI-JP 1 51927862 51927862 single base substitution C T intron_variant LIRI-JP 1 51930550 51930550 single base substitution T C intron_variant LIRI-JP 1 51931109 51931109 single base substitution T C intron_variant LIRI-JP 1 51931109 51931109 single base substitution T C upstream_gene_variant LIRI-JP 1 51931482 51931482 single base substitution A G intron_variant LIRI-JP 1 51931482 51931482 single base substitution A G upstream_gene_variant LIRI-JP 1 51931519 51931519 single base substitution T C intron_variant LIRI-JP 1 51931519 51931519 single base substitution T C upstream_gene_variant LIRI-JP 1 51931622 51931622 single base substitution T C intron_variant LIRI-JP 1 51931622 51931622 single base substitution T C upstream_gene_variant LIRI-JP 1 51932687 51932687 single base substitution C T intron_variant LIRI-JP 1 51932687 51932687 single base substitution C T upstream_gene_variant LIRI-JP 1 51933574 51933574 single base substitution G C intron_variant LIRI-JP 1 51933574 51933574 single base substitution G C upstream_gene_variant LIRI-JP 1 51935956 51935956 single base substitution C T intron_variant LIRI-JP 1 51935956 51935956 single base substitution C T upstream_gene_variant LIRI-JP 1 51937781 51937781 single base substitution A C intron_variant LIRI-JP 1 51937946 51937946 single base substitution G C intron_variant LIRI-JP 1 51938201 51938201 single base substitution A G intron_variant LIRI-JP 1 51940009 51940009 single base substitution T A intron_variant LIRI-JP 1 51943052 51943052 single base substitution T C intron_variant LIRI-JP 1 51944746 51944746 single base substitution C G intron_variant LIRI-JP 1 51945794 51945794 single base substitution T C intron_variant LIRI-JP 1 51946125 51946125 single base substitution C A intron_variant LIRI-JP 1 51947488 51947488 single base substitution C T intron_variant LIRI-JP 1 51947777 51947777 single base substitution G T intron_variant LIRI-JP 1 51948667 51948667 single base substitution T A intron_variant LIRI-JP 1 51948866 51948866 single base substitution C A intron_variant LIRI-JP 1 51951656 51951656 single base substitution G A intron_variant LIRI-JP 1 51952624 51952624 single base substitution A G intron_variant LIRI-JP 1 51955634 51955634 single base substitution T C intron_variant LIRI-JP 1 51957615 51957615 single base substitution C A intron_variant LIRI-JP 1 51961407 51961407 single base substitution T C intron_variant LIRI-JP 1 51968661 51968661 single base substitution A T intron_variant LIRI-JP 1 51970155 51970155 single base substitution G A intron_variant LIRI-JP 1 51970651 51970651 single base substitution G T intron_variant LIRI-JP 1 51972438 51972438 single base substitution C A intron_variant LIRI-JP 1 51974312 51974312 single base substitution G A intron_variant LIRI-JP 1 51974559 51974559 single base substitution G A intron_variant LIRI-JP 1 51974886 51974886 single base substitution T C intron_variant LIRI-JP 1 51975606 51975606 single base substitution G A intron_variant LIRI-JP 1 51976020 51976020 single base substitution G A intron_variant LIRI-JP 1 51977375 51977375 single base substitution C T intron_variant LIRI-JP 1 51981136 51981136 single base substitution C A intron_variant LIRI-JP 1 51982982 51982982 single base substitution T A intron_variant LIRI-JP 1 51985186 51985186 single base substitution A T upstream_gene_variant LIRI-JP 1 51986776 51986776 single base substitution T G upstream_gene_variant LIRI-JP 1 51987930 51987975 deletion of <=200bp GGTTAACAAAAAATAAAAAGAATCAGATGCCCTAGCAAGGGAAGAC - upstream_gene_variant LUSC-KR 1 51816216 51816216 single base substitution C A downstream_gene_variant LUSC-KR 1 51824381 51824381 single base substitution G T intron_variant LUSC-KR 1 51824628 51824628 single base substitution G A intron_variant LUSC-KR 1 51832601 51832601 single base substitution A G intron_variant LUSC-KR 1 51834396 51834396 single base substitution C T intron_variant LUSC-KR 1 51836265 51836265 single base substitution G C intron_variant LUSC-KR 1 51843208 51843208 single base substitution T C intron_variant LUSC-KR 1 51845702 51845702 single base substitution C A intron_variant LUSC-KR 1 51848109 51848109 single base substitution G T intron_variant LUSC-KR 1 51853843 51853843 single base substitution C G intron_variant LUSC-KR 1 51854386 51854386 single base substitution C G intron_variant LUSC-KR 1 51860147 51860147 single base substitution G A intron_variant LUSC-KR 1 51861048 51861048 single base substitution C A intron_variant LUSC-KR 1 51862190 51862190 single base substitution C T intron_variant LUSC-KR 1 51862355 51862355 single base substitution T A intron_variant LUSC-KR 1 51865527 51865527 single base substitution T A downstream_gene_variant LUSC-KR 1 51865527 51865527 single base substitution T A intron_variant LUSC-KR 1 51868431 51868431 single base substitution C A downstream_gene_variant LUSC-KR 1 51868431 51868431 single base substitution C A intron_variant LUSC-KR 1 51868431 51868431 single base substitution C A upstream_gene_variant LUSC-KR 1 51878657 51878657 single base substitution C A intron_variant LUSC-KR 1 51890718 51890718 single base substitution C G intron_variant LUSC-KR 1 51890718 51890718 single base substitution C G upstream_gene_variant LUSC-KR 1 51892509 51892509 single base substitution C A intron_variant LUSC-KR 1 51892509 51892509 single base substitution C A upstream_gene_variant LUSC-KR 1 51896213 51896213 single base substitution C A intron_variant LUSC-KR 1 51899216 51899216 single base substitution A G intron_variant LUSC-KR 1 51900850 51900850 single base substitution C T intron_variant LUSC-KR 1 51901251 51901251 single base substitution C T intron_variant LUSC-KR 1 51902001 51902001 single base substitution C G intron_variant LUSC-KR 1 51904417 51904417 single base substitution C A intron_variant LUSC-KR 1 51915207 51915207 single base substitution T A intron_variant LUSC-KR 1 51915878 51915878 single base substitution C A intron_variant LUSC-KR 1 51927187 51927187 single base substitution G T intron_variant LUSC-KR 1 51934766 51934766 single base substitution C A intron_variant LUSC-KR 1 51934766 51934766 single base substitution C A upstream_gene_variant LUSC-KR 1 51936143 51936143 single base substitution C T intron_variant LUSC-KR 1 51939624 51939624 single base substitution T C intron_variant LUSC-KR 1 51941359 51941359 single base substitution G C intron_variant LUSC-KR 1 51948635 51948635 single base substitution C T intron_variant LUSC-KR 1 51952426 51952426 single base substitution C A intron_variant LUSC-KR 1 51962360 51962360 single base substitution G A intron_variant LUSC-KR 1 51962480 51962480 single base substitution G A intron_variant LUSC-KR 1 51962928 51962928 single base substitution C G intron_variant LUSC-KR 1 51973946 51973946 single base substitution A G intron_variant LUSC-KR 1 51973998 51973998 single base substitution G A intron_variant LUSC-KR 1 51974000 51974000 single base substitution A G intron_variant LUSC-KR 1 51975921 51975921 single base substitution G A intron_variant LUSC-KR 1 51978222 51978222 single base substitution T A intron_variant LUSC-KR 1 51978661 51978661 single base substitution C A intron_variant LUSC-KR 1 51982934 51982934 single base substitution T C intron_variant LUSC-US 1 51822469 51822469 single base substitution C T missense_variant R542K 1625G>A LUSC-US 1 51822469 51822469 single base substitution C T missense_variant R731K 2192G>A LUSC-US 1 51822469 51822469 single base substitution C T missense_variant R865K 2594G>A LUSC-US 1 51829589 51829589 single base substitution C A missense_variant A447S 1339G>T LUSC-US 1 51829589 51829589 single base substitution C A missense_variant A636S 1906G>T LUSC-US 1 51829589 51829589 single base substitution C A missense_variant A770S 2308G>T LUSC-US 1 51871588 51871588 single base substitution G T exon_variant LUSC-US 1 51871588 51871588 single base substitution G T intron_variant LUSC-US 1 51871588 51871588 single base substitution G T missense_variant Q233K 697C>A LUSC-US 1 51871588 51871588 single base substitution G T missense_variant Q556K 1666C>A LUSC-US 1 51871588 51871588 single base substitution G T upstream_gene_variant LUSC-US 1 51912683 51912683 single base substitution C A missense_variant R249L 746G>T LUSC-US 1 51946954 51946954 single base substitution G C exon_variant LUSC-US 1 51946954 51946954 single base substitution G C stop_gained Y22* 66C>G MALY-DE 1 51815270 51815271 deletion of <=200bp CA - downstream_gene_variant MALY-DE 1 51820549 51820549 single base substitution T A 3_prime_UTR_variant MALY-DE 1 51820549 51820549 single base substitution T A downstream_gene_variant MALY-DE 1 51823432 51823432 single base substitution A T intron_variant MALY-DE 1 51826453 51826453 single base substitution C T intron_variant MALY-DE 1 51826742 51826742 single base substitution G C intron_variant MALY-DE 1 51826760 51826760 single base substitution G A intron_variant MALY-DE 1 51827622 51827622 single base substitution C G intron_variant MALY-DE 1 51829866 51829866 insertion of <=200bp - A intron_variant MALY-DE 1 51834142 51834142 single base substitution G A intron_variant MALY-DE 1 51844448 51844448 single base substitution A T intron_variant MALY-DE 1 51847597 51847597 single base substitution A C intron_variant MALY-DE 1 51865572 51865572 single base substitution A C downstream_gene_variant MALY-DE 1 51865572 51865572 single base substitution A C intron_variant MALY-DE 1 51866685 51866685 single base substitution A T downstream_gene_variant MALY-DE 1 51866685 51866685 single base substitution A T exon_variant MALY-DE 1 51866685 51866685 single base substitution A T intron_variant MALY-DE 1 51866709 51866709 single base substitution A G downstream_gene_variant MALY-DE 1 51866709 51866709 single base substitution A G exon_variant MALY-DE 1 51866709 51866709 single base substitution A G intron_variant MALY-DE 1 51868424 51868424 single base substitution G A downstream_gene_variant MALY-DE 1 51868424 51868424 single base substitution G A intron_variant MALY-DE 1 51868424 51868424 single base substitution G A upstream_gene_variant MALY-DE 1 51884444 51884444 single base substitution T C intron_variant MALY-DE 1 51885099 51885099 single base substitution G T intron_variant MALY-DE 1 51893143 51893143 single base substitution A G intron_variant MALY-DE 1 51893143 51893143 single base substitution A G upstream_gene_variant MALY-DE 1 51894020 51894020 single base substitution A C intron_variant MALY-DE 1 51897614 51897614 single base substitution G C intron_variant MALY-DE 1 51901305 51901305 single base substitution T C intron_variant MALY-DE 1 51901625 51901625 single base substitution G A intron_variant MALY-DE 1 51904987 51904987 single base substitution A T intron_variant MALY-DE 1 51912518 51912518 single base substitution A C intron_variant MALY-DE 1 51919383 51919383 single base substitution G C downstream_gene_variant MALY-DE 1 51919383 51919383 single base substitution G C intron_variant MALY-DE 1 51925262 51925262 single base substitution G T downstream_gene_variant MALY-DE 1 51925262 51925262 single base substitution G T intron_variant MALY-DE 1 51927700 51927700 single base substitution A C intron_variant MALY-DE 1 51929527 51929527 single base substitution G A intron_variant MALY-DE 1 51933019 51933019 single base substitution T G intron_variant MALY-DE 1 51933019 51933019 single base substitution T G upstream_gene_variant MALY-DE 1 51934136 51934136 single base substitution A G intron_variant MALY-DE 1 51934136 51934136 single base substitution A G upstream_gene_variant MALY-DE 1 51934625 51934625 single base substitution C T intron_variant MALY-DE 1 51934625 51934625 single base substitution C T upstream_gene_variant MALY-DE 1 51938039 51938039 single base substitution T C intron_variant MALY-DE 1 51938055 51938055 single base substitution T A intron_variant MALY-DE 1 51943605 51943605 single base substitution G C intron_variant MALY-DE 1 51944991 51944991 single base substitution C G intron_variant MALY-DE 1 51950196 51950196 single base substitution T A intron_variant MALY-DE 1 51952498 51952499 deletion of <=200bp TG - intron_variant MALY-DE 1 51957928 51957928 single base substitution C T intron_variant MALY-DE 1 51958027 51958027 single base substitution A G intron_variant MALY-DE 1 51959447 51959447 single base substitution C A intron_variant MALY-DE 1 51964736 51964736 single base substitution C T intron_variant MALY-DE 1 51965875 51965875 single base substitution A G intron_variant MALY-DE 1 51966082 51966082 single base substitution A G intron_variant MALY-DE 1 51966293 51966293 single base substitution T G intron_variant MALY-DE 1 51968167 51968167 insertion of <=200bp - A intron_variant MALY-DE 1 51972748 51972748 single base substitution G A intron_variant MALY-DE 1 51974151 51974151 single base substitution T C intron_variant MALY-DE 1 51977169 51977169 single base substitution A T intron_variant MALY-DE 1 51977172 51977172 single base substitution T A intron_variant MALY-DE 1 51978247 51978247 single base substitution T C intron_variant MALY-DE 1 51978300 51978300 single base substitution C G intron_variant MALY-DE 1 51978302 51978302 single base substitution G T intron_variant MALY-DE 1 51978319 51978319 single base substitution T C intron_variant MALY-DE 1 51978372 51978372 single base substitution T A intron_variant MALY-DE 1 51978431 51978431 single base substitution A G intron_variant MALY-DE 1 51980086 51980086 single base substitution T C intron_variant MALY-DE 1 51980873 51980873 single base substitution A C intron_variant MALY-DE 1 51980983 51980983 single base substitution A G intron_variant MALY-DE 1 51980998 51980998 single base substitution A C intron_variant MALY-DE 1 51982531 51982531 single base substitution T G intron_variant MALY-DE 1 51982734 51982734 single base substitution T C intron_variant MALY-DE 1 51983155 51983155 single base substitution C A intron_variant MALY-DE 1 51983842 51983842 single base substitution T C intron_variant MALY-DE 1 51983844 51983844 single base substitution T C intron_variant MALY-DE 1 51983862 51983862 single base substitution C A intron_variant MALY-DE 1 51984250 51984250 single base substitution G A intron_variant MALY-DE 1 51984285 51984285 single base substitution G A intron_variant MALY-DE 1 51984286 51984286 single base substitution G A intron_variant MALY-DE 1 51989608 51989608 single base substitution A G upstream_gene_variant MELA-AU 1 51815553 51815553 single base substitution C T downstream_gene_variant MELA-AU 1 51816030 51816030 single base substitution G A downstream_gene_variant MELA-AU 1 51817693 51817693 single base substitution G A downstream_gene_variant MELA-AU 1 51818081 51818082 multiple base substitution (>=2bp and <=200bp) GG AA downstream_gene_variant MELA-AU 1 51819200 51819200 single base substitution C T downstream_gene_variant MELA-AU 1 51819244 51819244 single base substitution G A downstream_gene_variant MELA-AU 1 51819352 51819352 single base substitution G A downstream_gene_variant MELA-AU 1 51819396 51819396 single base substitution A C downstream_gene_variant MELA-AU 1 51819464 51819464 single base substitution G A downstream_gene_variant MELA-AU 1 51819763 51819763 single base substitution G A downstream_gene_variant MELA-AU 1 51820702 51820702 single base substitution G A 3_prime_UTR_variant MELA-AU 1 51820702 51820702 single base substitution G A downstream_gene_variant MELA-AU 1 51820910 51820910 single base substitution G A 3_prime_UTR_variant MELA-AU 1 51820910 51820910 single base substitution G A downstream_gene_variant MELA-AU 1 51821810 51821810 single base substitution T A 3_prime_UTR_variant MELA-AU 1 51821810 51821810 single base substitution T A downstream_gene_variant MELA-AU 1 51821962 51821962 single base substitution G A 3_prime_UTR_variant MELA-AU 1 51821962 51821962 single base substitution G A downstream_gene_variant MELA-AU 1 51821983 51821983 single base substitution G C 3_prime_UTR_variant MELA-AU 1 51822336 51822336 single base substitution G A 3_prime_UTR_variant MELA-AU 1 51822547 51822547 single base substitution G A intron_variant MELA-AU 1 51824908 51824908 single base substitution G A intron_variant MELA-AU 1 51824909 51824909 single base substitution G A intron_variant MELA-AU 1 51825437 51825437 single base substitution A T intron_variant MELA-AU 1 51825531 51825531 single base substitution G A intron_variant MELA-AU 1 51825542 51825542 single base substitution A G intron_variant MELA-AU 1 51825717 51825717 single base substitution T C intron_variant MELA-AU 1 51825846 51825846 single base substitution G A intron_variant MELA-AU 1 51826026 51826026 single base substitution T G intron_variant MELA-AU 1 51826695 51826695 single base substitution C G intron_variant MELA-AU 1 51826733 51826733 single base substitution T C intron_variant MELA-AU 1 51827804 51827804 single base substitution C T intron_variant MELA-AU 1 51828055 51828055 single base substitution A G intron_variant MELA-AU 1 51829134 51829134 single base substitution G A intron_variant MELA-AU 1 51829747 51829747 single base substitution G A intron_variant MELA-AU 1 51830039 51830039 single base substitution G A intron_variant MELA-AU 1 51830270 51830270 single base substitution G A intron_variant MELA-AU 1 51830589 51830590 multiple base substitution (>=2bp and <=200bp) CC TT intron_variant MELA-AU 1 51830636 51830636 single base substitution G A intron_variant MELA-AU 1 51831028 51831028 single base substitution T A intron_variant MELA-AU 1 51831109 51831109 single base substitution G A intron_variant MELA-AU 1 51831113 51831113 single base substitution C A intron_variant MELA-AU 1 51831577 51831577 single base substitution G A intron_variant MELA-AU 1 51832067 51832068 multiple base substitution (>=2bp and <=200bp) GG AA intron_variant MELA-AU 1 51832859 51832859 single base substitution G A intron_variant MELA-AU 1 51833286 51833286 single base substitution C T intron_variant MELA-AU 1 51833623 51833623 single base substitution G A intron_variant MELA-AU 1 51835919 51835919 single base substitution A G intron_variant MELA-AU 1 51836137 51836137 single base substitution G A intron_variant MELA-AU 1 51836150 51836150 single base substitution T C intron_variant MELA-AU 1 51836496 51836496 single base substitution G A intron_variant MELA-AU 1 51836811 51836811 single base substitution G A intron_variant MELA-AU 1 51837294 51837294 single base substitution T A intron_variant MELA-AU 1 51838737 51838737 single base substitution C G intron_variant MELA-AU 1 51839339 51839339 single base substitution T C intron_variant MELA-AU 1 51839670 51839670 single base substitution C T intron_variant MELA-AU 1 51839880 51839880 single base substitution G A intron_variant MELA-AU 1 51840808 51840808 single base substitution G A intron_variant MELA-AU 1 51840836 51840836 single base substitution G A intron_variant MELA-AU 1 51841542 51841542 single base substitution C T intron_variant MELA-AU 1 51841916 51841916 single base substitution G A intron_variant MELA-AU 1 51842028 51842028 single base substitution A T intron_variant MELA-AU 1 51842308 51842309 multiple base substitution (>=2bp and <=200bp) CC TT intron_variant MELA-AU 1 51842515 51842515 single base substitution G A intron_variant MELA-AU 1 51842614 51842614 single base substitution A C intron_variant MELA-AU 1 51844201 51844201 single base substitution C T intron_variant MELA-AU 1 51844450 51844450 single base substitution T C intron_variant MELA-AU 1 51844521 51844521 single base substitution G A intron_variant MELA-AU 1 51845559 51845559 single base substitution C A intron_variant MELA-AU 1 51845628 51845628 single base substitution G A intron_variant MELA-AU 1 51846305 51846305 single base substitution G A intron_variant MELA-AU 1 51846512 51846512 single base substitution G A intron_variant MELA-AU 1 51846790 51846790 single base substitution G A intron_variant MELA-AU 1 51846981 51846981 single base substitution C T intron_variant MELA-AU 1 51847079 51847079 single base substitution A G intron_variant MELA-AU 1 51847262 51847262 single base substitution C T intron_variant MELA-AU 1 51848349 51848350 multiple base substitution (>=2bp and <=200bp) CC GT intron_variant MELA-AU 1 51848393 51848393 single base substitution C A intron_variant MELA-AU 1 51849069 51849069 single base substitution G A intron_variant MELA-AU 1 51849109 51849109 single base substitution G A intron_variant MELA-AU 1 51849179 51849179 single base substitution A C intron_variant MELA-AU 1 51849216 51849216 single base substitution A C intron_variant MELA-AU 1 51849270 51849270 single base substitution A G intron_variant MELA-AU 1 51849537 51849537 single base substitution T C intron_variant MELA-AU 1 51849589 51849589 single base substitution G A intron_variant MELA-AU 1 51849691 51849691 single base substitution G A intron_variant MELA-AU 1 51849736 51849736 single base substitution G A intron_variant MELA-AU 1 51850982 51850982 deletion of <=200bp A - intron_variant MELA-AU 1 51851742 51851742 single base substitution C T intron_variant MELA-AU 1 51852385 51852385 single base substitution G A intron_variant MELA-AU 1 51852714 51852714 single base substitution G A intron_variant MELA-AU 1 51852820 51852820 single base substitution G A intron_variant MELA-AU 1 51852855 51852855 single base substitution G A intron_variant MELA-AU 1 51854033 51854033 single base substitution C G intron_variant MELA-AU 1 51854234 51854234 single base substitution G A intron_variant MELA-AU 1 51854998 51854998 single base substitution A G downstream_gene_variant MELA-AU 1 51854998 51854998 single base substitution A G intron_variant MELA-AU 1 51855190 51855190 single base substitution G A downstream_gene_variant MELA-AU 1 51855190 51855190 single base substitution G A intron_variant MELA-AU 1 51855838 51855838 single base substitution C T downstream_gene_variant MELA-AU 1 51855838 51855838 single base substitution C T intron_variant MELA-AU 1 51856082 51856082 single base substitution G A downstream_gene_variant MELA-AU 1 51856082 51856082 single base substitution G A intron_variant MELA-AU 1 51856326 51856327 multiple base substitution (>=2bp and <=200bp) GG AA downstream_gene_variant MELA-AU 1 51856326 51856327 multiple base substitution (>=2bp and <=200bp) GG AA intron_variant MELA-AU 1 51856327 51856327 single base substitution G A downstream_gene_variant MELA-AU 1 51856327 51856327 single base substitution G A intron_variant MELA-AU 1 51856960 51856961 multiple base substitution (>=2bp and <=200bp) GG TA downstream_gene_variant MELA-AU 1 51856960 51856961 multiple base substitution (>=2bp and <=200bp) GG TA intron_variant MELA-AU 1 51857128 51857128 insertion of <=200bp - AATAA downstream_gene_variant MELA-AU 1 51857128 51857128 insertion of <=200bp - AATAA intron_variant MELA-AU 1 51857210 51857210 single base substitution G A downstream_gene_variant MELA-AU 1 51857210 51857210 single base substitution G A intron_variant MELA-AU 1 51857234 51857234 single base substitution G A downstream_gene_variant MELA-AU 1 51857234 51857234 single base substitution G A intron_variant MELA-AU 1 51857322 51857322 single base substitution G A downstream_gene_variant MELA-AU 1 51857322 51857322 single base substitution G A intron_variant MELA-AU 1 51857865 51857865 single base substitution G A downstream_gene_variant MELA-AU 1 51857865 51857865 single base substitution G A intron_variant MELA-AU 1 51858052 51858052 single base substitution T C downstream_gene_variant MELA-AU 1 51858052 51858052 single base substitution T C intron_variant MELA-AU 1 51858146 51858146 single base substitution G A downstream_gene_variant MELA-AU 1 51858146 51858146 single base substitution G A intron_variant MELA-AU 1 51859333 51859333 single base substitution A T downstream_gene_variant MELA-AU 1 51859333 51859333 single base substitution A T intron_variant MELA-AU 1 51859368 51859368 single base substitution G A downstream_gene_variant MELA-AU 1 51859368 51859368 single base substitution G A intron_variant MELA-AU 1 51859610 51859610 single base substitution G A downstream_gene_variant MELA-AU 1 51859610 51859610 single base substitution G A intron_variant MELA-AU 1 51859637 51859637 single base substitution A T downstream_gene_variant MELA-AU 1 51859637 51859637 single base substitution A T intron_variant MELA-AU 1 51861195 51861195 single base substitution T C intron_variant MELA-AU 1 51862068 51862068 single base substitution G A intron_variant MELA-AU 1 51862370 51862370 single base substitution G A intron_variant MELA-AU 1 51863246 51863246 single base substitution G A intron_variant MELA-AU 1 51864675 51864675 single base substitution A C downstream_gene_variant MELA-AU 1 51864675 51864675 single base substitution A C intron_variant MELA-AU 1 51866016 51866016 single base substitution G A downstream_gene_variant MELA-AU 1 51866016 51866016 single base substitution G A intron_variant MELA-AU 1 51867041 51867041 single base substitution A G downstream_gene_variant MELA-AU 1 51867041 51867041 single base substitution A G intron_variant MELA-AU 1 51867041 51867041 single base substitution A G upstream_gene_variant MELA-AU 1 51867396 51867396 single base substitution C T downstream_gene_variant MELA-AU 1 51867396 51867396 single base substitution C T intron_variant MELA-AU 1 51867396 51867396 single base substitution C T upstream_gene_variant MELA-AU 1 51870524 51870524 single base substitution G A intron_variant MELA-AU 1 51870524 51870524 single base substitution G A upstream_gene_variant MELA-AU 1 51871458 51871458 single base substitution G A intron_variant MELA-AU 1 51871458 51871458 single base substitution G A upstream_gene_variant MELA-AU 1 51871866 51871866 single base substitution G A intron_variant MELA-AU 1 51871866 51871866 single base substitution G A upstream_gene_variant MELA-AU 1 51871971 51871971 single base substitution A G intron_variant MELA-AU 1 51871971 51871971 single base substitution A G upstream_gene_variant MELA-AU 1 51872300 51872301 multiple base substitution (>=2bp and <=200bp) GG AA intron_variant MELA-AU 1 51872300 51872301 multiple base substitution (>=2bp and <=200bp) GG AA upstream_gene_variant MELA-AU 1 51872973 51872973 single base substitution G A intron_variant MELA-AU 1 51872973 51872973 single base substitution G A upstream_gene_variant MELA-AU 1 51873357 51873357 single base substitution G A intron_variant MELA-AU 1 51873357 51873357 single base substitution G A upstream_gene_variant MELA-AU 1 51873957 51873957 single base substitution G A exon_variant MELA-AU 1 51873957 51873957 single base substitution G A intron_variant MELA-AU 1 51873957 51873957 single base substitution G A synonymous_variant S118S 354C>T MELA-AU 1 51873957 51873957 single base substitution G A synonymous_variant S441S 1323C>T MELA-AU 1 51873957 51873957 single base substitution G A upstream_gene_variant MELA-AU 1 51874050 51874050 single base substitution G A intron_variant MELA-AU 1 51874050 51874050 single base substitution G A upstream_gene_variant MELA-AU 1 51875291 51875291 single base substitution G A exon_variant MELA-AU 1 51875291 51875291 single base substitution G A synonymous_variant L397L 1191C>T MELA-AU 1 51875291 51875291 single base substitution G A synonymous_variant L74L 222C>T MELA-AU 1 51875362 51875362 single base substitution G A exon_variant MELA-AU 1 51875362 51875362 single base substitution G A stop_gained Q374* 1120C>T MELA-AU 1 51875362 51875362 single base substitution G A stop_gained Q51* 151C>T MELA-AU 1 51875395 51875395 single base substitution T C intron_variant MELA-AU 1 51875783 51875783 single base substitution C T intron_variant MELA-AU 1 51876063 51876063 single base substitution C T intron_variant MELA-AU 1 51876104 51876104 single base substitution G A intron_variant MELA-AU 1 51876294 51876294 single base substitution G A intron_variant MELA-AU 1 51877373 51877373 single base substitution G A intron_variant MELA-AU 1 51878186 51878186 single base substitution A T intron_variant MELA-AU 1 51879011 51879011 single base substitution C T intron_variant MELA-AU 1 51879979 51879979 single base substitution G A intron_variant MELA-AU 1 51880210 51880210 single base substitution G A intron_variant MELA-AU 1 51882933 51882933 single base substitution T C intron_variant MELA-AU 1 51884070 51884070 single base substitution G A intron_variant MELA-AU 1 51884832 51884832 single base substitution G A intron_variant MELA-AU 1 51884999 51884999 single base substitution G A intron_variant MELA-AU 1 51885612 51885612 single base substitution C T intron_variant MELA-AU 1 51885701 51885701 single base substitution G T intron_variant MELA-AU 1 51886574 51886574 single base substitution C T intron_variant MELA-AU 1 51887748 51887748 single base substitution T C exon_variant MELA-AU 1 51887748 51887748 single base substitution T C intron_variant MELA-AU 1 51888656 51888657 multiple base substitution (>=2bp and <=200bp) GG AA intron_variant MELA-AU 1 51888656 51888657 multiple base substitution (>=2bp and <=200bp) GG AA upstream_gene_variant MELA-AU 1 51888924 51888924 single base substitution T C intron_variant MELA-AU 1 51888924 51888924 single base substitution T C synonymous_variant L9L 27A>G MELA-AU 1 51888924 51888924 single base substitution T C upstream_gene_variant MELA-AU 1 51889399 51889399 single base substitution A C intron_variant MELA-AU 1 51889399 51889399 single base substitution A C upstream_gene_variant MELA-AU 1 51890351 51890351 single base substitution G A intron_variant MELA-AU 1 51890351 51890351 single base substitution G A upstream_gene_variant MELA-AU 1 51890981 51890981 single base substitution G A intron_variant MELA-AU 1 51890981 51890981 single base substitution G A upstream_gene_variant MELA-AU 1 51892354 51892354 single base substitution G A intron_variant MELA-AU 1 51892354 51892354 single base substitution G A upstream_gene_variant MELA-AU 1 51892509 51892509 single base substitution C A intron_variant MELA-AU 1 51892509 51892509 single base substitution C A upstream_gene_variant MELA-AU 1 51892528 51892528 single base substitution C T intron_variant MELA-AU 1 51892528 51892528 single base substitution C T upstream_gene_variant MELA-AU 1 51892600 51892600 single base substitution C T intron_variant MELA-AU 1 51892600 51892600 single base substitution C T upstream_gene_variant MELA-AU 1 51893136 51893136 single base substitution G A intron_variant MELA-AU 1 51893136 51893136 single base substitution G A upstream_gene_variant MELA-AU 1 51893774 51893774 single base substitution G A intron_variant MELA-AU 1 51893774 51893774 single base substitution G A upstream_gene_variant MELA-AU 1 51894274 51894274 single base substitution G A intron_variant MELA-AU 1 51894275 51894275 single base substitution G A intron_variant MELA-AU 1 51894660 51894660 single base substitution C A intron_variant MELA-AU 1 51895651 51895651 single base substitution G T intron_variant MELA-AU 1 51896135 51896135 single base substitution G A intron_variant MELA-AU 1 51897251 51897251 single base substitution G A intron_variant MELA-AU 1 51897802 51897802 single base substitution G A intron_variant MELA-AU 1 51897967 51897967 single base substitution A G intron_variant MELA-AU 1 51900377 51900377 single base substitution C A intron_variant MELA-AU 1 51900686 51900686 single base substitution G A intron_variant MELA-AU 1 51900775 51900775 single base substitution T A intron_variant MELA-AU 1 51900816 51900817 multiple base substitution (>=2bp and <=200bp) GG AA intron_variant MELA-AU 1 51901281 51901281 single base substitution G A intron_variant MELA-AU 1 51902070 51902070 single base substitution G A intron_variant MELA-AU 1 51902909 51902909 single base substitution A G intron_variant MELA-AU 1 51903464 51903464 single base substitution A C intron_variant MELA-AU 1 51903606 51903606 single base substitution A T intron_variant MELA-AU 1 51904144 51904144 single base substitution T A intron_variant MELA-AU 1 51904219 51904219 single base substitution G A intron_variant MELA-AU 1 51904782 51904782 single base substitution G A intron_variant MELA-AU 1 51905147 51905147 single base substitution G A intron_variant MELA-AU 1 51905285 51905285 single base substitution G A intron_variant MELA-AU 1 51907917 51907917 single base substitution G A intron_variant MELA-AU 1 51908259 51908259 single base substitution C T intron_variant MELA-AU 1 51909031 51909031 single base substitution C T intron_variant MELA-AU 1 51909659 51909659 single base substitution T C intron_variant MELA-AU 1 51911538 51911538 single base substitution C A intron_variant MELA-AU 1 51912088 51912094 deletion of <=200bp TTTAACA - intron_variant MELA-AU 1 51912518 51912518 single base substitution A G intron_variant MELA-AU 1 51912643 51912643 single base substitution T A synonymous_variant L262L 786A>T MELA-AU 1 51913171 51913171 single base substitution G A intron_variant MELA-AU 1 51913465 51913466 multiple base substitution (>=2bp and <=200bp) GG AA intron_variant MELA-AU 1 51913685 51913685 single base substitution G A intron_variant MELA-AU 1 51913792 51913792 single base substitution A G missense_variant Y193H 577T>C MELA-AU 1 51914153 51914153 single base substitution A G intron_variant MELA-AU 1 51914562 51914562 single base substitution C T intron_variant MELA-AU 1 51914774 51914774 single base substitution G A intron_variant MELA-AU 1 51915120 51915120 single base substitution G A intron_variant MELA-AU 1 51915427 51915428 multiple base substitution (>=2bp and <=200bp) GG AA intron_variant MELA-AU 1 51915645 51915645 single base substitution G A intron_variant MELA-AU 1 51916484 51916484 single base substitution G A intron_variant MELA-AU 1 51916715 51916715 single base substitution A G intron_variant MELA-AU 1 51917256 51917256 single base substitution G A intron_variant MELA-AU 1 51918699 51918699 single base substitution G A downstream_gene_variant MELA-AU 1 51918699 51918699 single base substitution G A intron_variant MELA-AU 1 51919384 51919384 single base substitution G A downstream_gene_variant MELA-AU 1 51919384 51919384 single base substitution G A intron_variant MELA-AU 1 51919463 51919463 single base substitution G A downstream_gene_variant MELA-AU 1 51919463 51919463 single base substitution G A intron_variant MELA-AU 1 51920016 51920016 single base substitution G C downstream_gene_variant MELA-AU 1 51920016 51920016 single base substitution G C intron_variant MELA-AU 1 51920533 51920534 multiple base substitution (>=2bp and <=200bp) GG AA downstream_gene_variant MELA-AU 1 51920533 51920534 multiple base substitution (>=2bp and <=200bp) GG AA intron_variant MELA-AU 1 51921245 51921245 single base substitution G A downstream_gene_variant MELA-AU 1 51921245 51921245 single base substitution G A intron_variant MELA-AU 1 51921630 51921630 single base substitution C A downstream_gene_variant MELA-AU 1 51921630 51921630 single base substitution C A intron_variant MELA-AU 1 51922071 51922072 multiple base substitution (>=2bp and <=200bp) GG AA downstream_gene_variant MELA-AU 1 51922071 51922072 multiple base substitution (>=2bp and <=200bp) GG AA intron_variant MELA-AU 1 51922678 51922678 single base substitution C G downstream_gene_variant MELA-AU 1 51922678 51922678 single base substitution C G intron_variant MELA-AU 1 51922765 51922765 single base substitution G A downstream_gene_variant MELA-AU 1 51922765 51922765 single base substitution G A intron_variant MELA-AU 1 51923891 51923891 single base substitution G A downstream_gene_variant MELA-AU 1 51923891 51923891 single base substitution G A exon_variant MELA-AU 1 51923891 51923891 single base substitution G A intron_variant MELA-AU 1 51924651 51924651 single base substitution G A downstream_gene_variant MELA-AU 1 51924651 51924651 single base substitution G A intron_variant MELA-AU 1 51924853 51924854 multiple base substitution (>=2bp and <=200bp) GG AA downstream_gene_variant MELA-AU 1 51924853 51924854 multiple base substitution (>=2bp and <=200bp) GG AA intron_variant MELA-AU 1 51925912 51925912 single base substitution G A downstream_gene_variant MELA-AU 1 51925912 51925912 single base substitution G A intron_variant MELA-AU 1 51926193 51926193 single base substitution G A downstream_gene_variant MELA-AU 1 51926193 51926193 single base substitution G A intron_variant MELA-AU 1 51926214 51926214 single base substitution A G downstream_gene_variant MELA-AU 1 51926214 51926214 single base substitution A G intron_variant MELA-AU 1 51926306 51926306 single base substitution A C downstream_gene_variant MELA-AU 1 51926306 51926306 single base substitution A C intron_variant MELA-AU 1 51926562 51926562 single base substitution G A downstream_gene_variant MELA-AU 1 51926562 51926562 single base substitution G A intron_variant MELA-AU 1 51926671 51926671 single base substitution T C downstream_gene_variant MELA-AU 1 51926671 51926671 single base substitution T C exon_variant MELA-AU 1 51926671 51926671 single base substitution T C intron_variant MELA-AU 1 51927120 51927120 single base substitution G A intron_variant MELA-AU 1 51927183 51927183 single base substitution C T intron_variant MELA-AU 1 51929067 51929067 single base substitution G A intron_variant MELA-AU 1 51929583 51929583 insertion of <=200bp - A intron_variant MELA-AU 1 51930464 51930464 single base substitution C T intron_variant MELA-AU 1 51930983 51930983 single base substitution G A exon_variant MELA-AU 1 51930983 51930983 single base substitution G A missense_variant P109S 325C>T MELA-AU 1 51931640 51931640 single base substitution C T intron_variant MELA-AU 1 51931640 51931640 single base substitution C T upstream_gene_variant MELA-AU 1 51931643 51931643 single base substitution A C intron_variant MELA-AU 1 51931643 51931643 single base substitution A C upstream_gene_variant MELA-AU 1 51932054 51932054 single base substitution G A intron_variant MELA-AU 1 51932054 51932054 single base substitution G A upstream_gene_variant MELA-AU 1 51932829 51932829 single base substitution G A intron_variant MELA-AU 1 51932829 51932829 single base substitution G A upstream_gene_variant MELA-AU 1 51933045 51933045 single base substitution A G intron_variant MELA-AU 1 51933045 51933045 single base substitution A G upstream_gene_variant MELA-AU 1 51934057 51934058 multiple base substitution (>=2bp and <=200bp) CC TT intron_variant MELA-AU 1 51934057 51934058 multiple base substitution (>=2bp and <=200bp) CC TT upstream_gene_variant MELA-AU 1 51934234 51934234 single base substitution A C exon_variant MELA-AU 1 51934234 51934234 single base substitution A C intron_variant MELA-AU 1 51934234 51934234 single base substitution A C missense_variant F74V 220T>G MELA-AU 1 51934234 51934234 single base substitution A C upstream_gene_variant MELA-AU 1 51934426 51934426 single base substitution G A intron_variant MELA-AU 1 51934426 51934426 single base substitution G A upstream_gene_variant MELA-AU 1 51934619 51934619 single base substitution G A intron_variant MELA-AU 1 51934619 51934619 single base substitution G A upstream_gene_variant MELA-AU 1 51934849 51934849 single base substitution G A intron_variant MELA-AU 1 51934849 51934849 single base substitution G A upstream_gene_variant MELA-AU 1 51935046 51935046 single base substitution T A intron_variant MELA-AU 1 51935046 51935046 single base substitution T A upstream_gene_variant MELA-AU 1 51935055 51935055 single base substitution G A intron_variant MELA-AU 1 51935055 51935055 single base substitution G A upstream_gene_variant MELA-AU 1 51935704 51935704 single base substitution C T intron_variant MELA-AU 1 51935704 51935704 single base substitution C T upstream_gene_variant MELA-AU 1 51936088 51936088 single base substitution G A intron_variant MELA-AU 1 51937033 51937033 single base substitution T A intron_variant MELA-AU 1 51937103 51937103 single base substitution G A intron_variant MELA-AU 1 51938691 51938691 single base substitution C A intron_variant MELA-AU 1 51939295 51939295 single base substitution A T intron_variant MELA-AU 1 51939531 51939531 single base substitution G A intron_variant MELA-AU 1 51939546 51939547 multiple base substitution (>=2bp and <=200bp) CT TG intron_variant MELA-AU 1 51939606 51939606 single base substitution G A intron_variant MELA-AU 1 51940096 51940096 single base substitution G A intron_variant MELA-AU 1 51941414 51941414 single base substitution G A intron_variant MELA-AU 1 51941469 51941469 single base substitution G A intron_variant MELA-AU 1 51941878 51941878 single base substitution G A intron_variant MELA-AU 1 51942558 51942558 single base substitution G A intron_variant MELA-AU 1 51942568 51942568 single base substitution G A intron_variant MELA-AU 1 51943309 51943309 single base substitution G A intron_variant MELA-AU 1 51943730 51943730 single base substitution A G intron_variant MELA-AU 1 51943796 51943796 single base substitution G A intron_variant MELA-AU 1 51944137 51944137 single base substitution A G intron_variant MELA-AU 1 51944479 51944479 single base substitution G A intron_variant MELA-AU 1 51945839 51945839 single base substitution C T intron_variant MELA-AU 1 51946368 51946368 single base substitution G A intron_variant MELA-AU 1 51946466 51946466 single base substitution G A intron_variant MELA-AU 1 51947503 51947503 single base substitution A G intron_variant MELA-AU 1 51947617 51947617 single base substitution G A intron_variant MELA-AU 1 51947642 51947642 single base substitution G A intron_variant MELA-AU 1 51947917 51947917 single base substitution G A intron_variant MELA-AU 1 51948406 51948406 single base substitution G A intron_variant MELA-AU 1 51948687 51948687 single base substitution G A intron_variant MELA-AU 1 51949165 51949165 single base substitution G T intron_variant MELA-AU 1 51949299 51949299 single base substitution G A intron_variant MELA-AU 1 51949466 51949466 single base substitution G A intron_variant MELA-AU 1 51949535 51949535 single base substitution G A intron_variant MELA-AU 1 51950079 51950079 single base substitution A T intron_variant MELA-AU 1 51950166 51950166 single base substitution G A intron_variant MELA-AU 1 51950351 51950351 single base substitution T C intron_variant MELA-AU 1 51952498 51952498 insertion of <=200bp - TG intron_variant MELA-AU 1 51952656 51952656 single base substitution A G intron_variant MELA-AU 1 51952657 51952657 single base substitution G A intron_variant MELA-AU 1 51952868 51952868 single base substitution G A intron_variant MELA-AU 1 51953341 51953341 single base substitution C T intron_variant MELA-AU 1 51953755 51953755 single base substitution C A intron_variant MELA-AU 1 51953813 51953813 single base substitution G A intron_variant MELA-AU 1 51953878 51953878 single base substitution G A intron_variant MELA-AU 1 51954684 51954685 multiple base substitution (>=2bp and <=200bp) GA AT intron_variant MELA-AU 1 51954959 51954959 insertion of <=200bp - AT intron_variant MELA-AU 1 51954983 51954983 single base substitution G A intron_variant MELA-AU 1 51955498 51955498 single base substitution T A intron_variant MELA-AU 1 51955927 51955927 single base substitution A G intron_variant MELA-AU 1 51957671 51957671 single base substitution G A intron_variant MELA-AU 1 51958638 51958638 single base substitution G A intron_variant MELA-AU 1 51959201 51959204 deletion of <=200bp TAAA - intron_variant MELA-AU 1 51961468 51961468 single base substitution G A intron_variant MELA-AU 1 51962404 51962404 single base substitution C T intron_variant MELA-AU 1 51963074 51963074 single base substitution G A intron_variant MELA-AU 1 51963447 51963447 single base substitution G A intron_variant MELA-AU 1 51964309 51964310 multiple base substitution (>=2bp and <=200bp) GG AA intron_variant MELA-AU 1 51964820 51964820 single base substitution G A intron_variant MELA-AU 1 51965291 51965291 single base substitution C T intron_variant MELA-AU 1 51965871 51965871 single base substitution G A intron_variant MELA-AU 1 51965996 51965996 single base substitution G A intron_variant MELA-AU 1 51966369 51966369 single base substitution T C intron_variant MELA-AU 1 51966419 51966419 single base substitution G A intron_variant MELA-AU 1 51966633 51966633 single base substitution G A intron_variant MELA-AU 1 51966733 51966733 single base substitution G A intron_variant MELA-AU 1 51966735 51966735 single base substitution A C intron_variant MELA-AU 1 51966761 51966761 single base substitution G A intron_variant MELA-AU 1 51966983 51966983 single base substitution G A intron_variant MELA-AU 1 51967467 51967467 single base substitution G A intron_variant MELA-AU 1 51967470 51967470 single base substitution A G intron_variant MELA-AU 1 51967831 51967831 single base substitution T C intron_variant MELA-AU 1 51968829 51968829 single base substitution G A intron_variant MELA-AU 1 51969343 51969343 single base substitution G A intron_variant MELA-AU 1 51969976 51969976 single base substitution G A intron_variant MELA-AU 1 51970560 51970560 single base substitution A G intron_variant MELA-AU 1 51970796 51970796 single base substitution A T intron_variant MELA-AU 1 51971206 51971206 single base substitution G A intron_variant MELA-AU 1 51971974 51971974 single base substitution T G intron_variant MELA-AU 1 51973699 51973699 single base substitution C A intron_variant MELA-AU 1 51973928 51973928 single base substitution G A intron_variant MELA-AU 1 51973932 51973932 single base substitution G A intron_variant MELA-AU 1 51975206 51975206 single base substitution A G intron_variant MELA-AU 1 51975727 51975727 single base substitution G A intron_variant MELA-AU 1 51976906 51976906 single base substitution C A intron_variant MELA-AU 1 51977183 51977183 single base substitution T C intron_variant MELA-AU 1 51977236 51977236 single base substitution C T intron_variant MELA-AU 1 51977445 51977445 single base substitution C T intron_variant MELA-AU 1 51977639 51977654 deletion of <=200bp ATAAAAACAAGTTTTA - intron_variant MELA-AU 1 51980036 51980036 single base substitution G A intron_variant MELA-AU 1 51981151 51981151 single base substitution A T intron_variant MELA-AU 1 51983297 51983297 single base substitution A G intron_variant MELA-AU 1 51984573 51984573 single base substitution G A intron_variant MELA-AU 1 51984802 51984802 single base substitution G A intron_variant MELA-AU 1 51986207 51986207 single base substitution C T upstream_gene_variant MELA-AU 1 51986235 51986235 single base substitution C T upstream_gene_variant MELA-AU 1 51986362 51986362 single base substitution G A upstream_gene_variant MELA-AU 1 51987811 51987811 single base substitution T G upstream_gene_variant MELA-AU 1 51987968 51987968 single base substitution G A upstream_gene_variant MELA-AU 1 51988460 51988460 single base substitution A G upstream_gene_variant MELA-AU 1 51988462 51988462 single base substitution G A upstream_gene_variant MELA-AU 1 51988702 51988702 single base substitution G A upstream_gene_variant ORCA-IN 1 51830136 51830136 single base substitution G A intron_variant ORCA-IN 1 51869176 51869176 single base substitution G A exon_variant ORCA-IN 1 51869176 51869176 single base substitution G A missense_variant S246F 737C>T ORCA-IN 1 51869176 51869176 single base substitution G A missense_variant S435F 1304C>T ORCA-IN 1 51869176 51869176 single base substitution G A missense_variant S569F 1706C>T ORCA-IN 1 51869176 51869176 single base substitution G A upstream_gene_variant ORCA-IN 1 51895332 51895332 deletion of <=200bp C - intron_variant ORCA-IN 1 51909479 51909479 single base substitution C T intron_variant ORCA-IN 1 51912777 51912777 single base substitution A C missense_variant W218G 652T>G ORCA-IN 1 51916790 51916790 single base substitution G C intron_variant ORCA-IN 1 51962284 51962284 single base substitution C A intron_variant ORCA-IN 1 51963435 51963435 single base substitution G T intron_variant OV-AU 1 51827303 51827303 single base substitution C T intron_variant OV-AU 1 51839681 51839681 single base substitution G C intron_variant OV-AU 1 51842048 51842048 single base substitution C G intron_variant OV-AU 1 51845187 51845187 single base substitution G T intron_variant OV-AU 1 51856480 51856480 single base substitution G T downstream_gene_variant OV-AU 1 51856480 51856480 single base substitution G T intron_variant OV-AU 1 51857042 51857042 single base substitution C T downstream_gene_variant OV-AU 1 51857042 51857042 single base substitution C T intron_variant OV-AU 1 51858923 51858923 single base substitution C G downstream_gene_variant OV-AU 1 51858923 51858923 single base substitution C G intron_variant OV-AU 1 51859282 51859282 single base substitution T C downstream_gene_variant OV-AU 1 51859282 51859282 single base substitution T C intron_variant OV-AU 1 51863483 51863483 single base substitution G A intron_variant OV-AU 1 51865509 51865509 single base substitution T A downstream_gene_variant OV-AU 1 51865509 51865509 single base substitution T A intron_variant OV-AU 1 51873803 51873803 single base substitution T A intron_variant OV-AU 1 51873803 51873803 single base substitution T A splice_region_variant OV-AU 1 51873803 51873803 single base substitution T A upstream_gene_variant OV-AU 1 51874723 51874723 single base substitution G T intron_variant OV-AU 1 51878291 51878291 single base substitution A C intron_variant OV-AU 1 51881149 51881149 single base substitution C G intron_variant OV-AU 1 51885766 51885766 single base substitution T A intron_variant OV-AU 1 51888443 51888443 single base substitution A T intron_variant OV-AU 1 51888443 51888443 single base substitution A T upstream_gene_variant OV-AU 1 51897451 51897451 single base substitution A G intron_variant OV-AU 1 51898073 51898073 single base substitution T A intron_variant OV-AU 1 51899551 51899551 single base substitution C G intron_variant OV-AU 1 51903728 51903728 single base substitution A G intron_variant OV-AU 1 51908836 51908836 single base substitution T G intron_variant OV-AU 1 51913023 51913023 single base substitution A C intron_variant OV-AU 1 51914552 51914552 single base substitution C T intron_variant OV-AU 1 51934284 51934284 single base substitution C G intron_variant OV-AU 1 51934284 51934284 single base substitution C G upstream_gene_variant OV-AU 1 51939063 51939063 single base substitution A G intron_variant OV-AU 1 51941935 51941935 single base substitution G T intron_variant OV-AU 1 51948047 51948047 single base substitution T C intron_variant OV-AU 1 51949125 51949125 single base substitution C T intron_variant OV-AU 1 51949180 51949180 single base substitution C A intron_variant OV-AU 1 51959436 51959436 single base substitution G A intron_variant OV-AU 1 51964596 51964596 single base substitution C A intron_variant OV-AU 1 51964597 51964597 single base substitution C G intron_variant OV-AU 1 51965521 51965521 single base substitution T G intron_variant OV-AU 1 51969654 51969654 single base substitution T G intron_variant OV-AU 1 51986600 51986600 single base substitution G A upstream_gene_variant OV-AU 1 51987488 51987488 single base substitution G A upstream_gene_variant OV-AU 1 51988521 51988521 single base substitution G T upstream_gene_variant PACA-AU 1 51818440 51818440 single base substitution C T downstream_gene_variant PACA-AU 1 51821348 51821348 single base substitution G T 3_prime_UTR_variant PACA-AU 1 51821348 51821348 single base substitution G T downstream_gene_variant PACA-AU 1 51823061 51823061 single base substitution A T intron_variant PACA-AU 1 51825285 51825285 single base substitution G A intron_variant PACA-AU 1 51844190 51844190 single base substitution G A intron_variant PACA-AU 1 51847110 51847110 single base substitution C A intron_variant PACA-AU 1 51853638 51853638 single base substitution A T intron_variant PACA-AU 1 51859739 51859739 deletion of <=200bp C - downstream_gene_variant PACA-AU 1 51859739 51859739 deletion of <=200bp C - intron_variant PACA-AU 1 51860856 51860856 single base substitution A G intron_variant PACA-AU 1 51861211 51861211 single base substitution C T intron_variant PACA-AU 1 51861262 51861262 single base substitution A T intron_variant PACA-AU 1 51864075 51864075 single base substitution C A intron_variant PACA-AU 1 51864076 51864076 single base substitution T C intron_variant PACA-AU 1 51868155 51868155 single base substitution C T downstream_gene_variant PACA-AU 1 51868155 51868155 single base substitution C T exon_variant PACA-AU 1 51868155 51868155 single base substitution C T missense_variant V289I 865G>A PACA-AU 1 51868155 51868155 single base substitution C T missense_variant V478I 1432G>A PACA-AU 1 51868155 51868155 single base substitution C T missense_variant V612I 1834G>A PACA-AU 1 51868155 51868155 single base substitution C T upstream_gene_variant PACA-AU 1 51869740 51869740 single base substitution C T intron_variant PACA-AU 1 51869740 51869740 single base substitution C T upstream_gene_variant PACA-AU 1 51870522 51870522 single base substitution G C intron_variant PACA-AU 1 51870522 51870522 single base substitution G C upstream_gene_variant PACA-AU 1 51875861 51875861 single base substitution T C intron_variant PACA-AU 1 51877068 51877068 single base substitution C T intron_variant PACA-AU 1 51877868 51877868 single base substitution C T intron_variant PACA-AU 1 51878014 51878014 single base substitution T G intron_variant PACA-AU 1 51880680 51880680 single base substitution T G intron_variant PACA-AU 1 51887386 51887386 single base substitution T G intron_variant PACA-AU 1 51887432 51887432 single base substitution G C intron_variant PACA-AU 1 51889909 51889909 single base substitution T A intron_variant PACA-AU 1 51889909 51889909 single base substitution T A upstream_gene_variant PACA-AU 1 51889910 51889910 single base substitution G T intron_variant PACA-AU 1 51889910 51889910 single base substitution G T upstream_gene_variant PACA-AU 1 51890391 51890391 single base substitution T C intron_variant PACA-AU 1 51890391 51890391 single base substitution T C upstream_gene_variant PACA-AU 1 51893697 51893697 single base substitution T G intron_variant PACA-AU 1 51893697 51893697 single base substitution T G upstream_gene_variant PACA-AU 1 51894970 51894970 single base substitution T C intron_variant PACA-AU 1 51908053 51908053 deletion of <=200bp A - intron_variant PACA-AU 1 51914932 51914932 insertion of <=200bp - A intron_variant PACA-AU 1 51915011 51915011 single base substitution C G intron_variant PACA-AU 1 51915875 51915875 single base substitution G A intron_variant PACA-AU 1 51917507 51917507 single base substitution T G intron_variant PACA-AU 1 51921680 51921680 single base substitution G C downstream_gene_variant PACA-AU 1 51921680 51921680 single base substitution G C intron_variant PACA-AU 1 51935599 51935599 single base substitution T C intron_variant PACA-AU 1 51935599 51935599 single base substitution T C upstream_gene_variant PACA-AU 1 51937281 51937281 single base substitution T A intron_variant PACA-AU 1 51937282 51937282 single base substitution C A intron_variant PACA-AU 1 51941617 51941617 single base substitution C T intron_variant PACA-AU 1 51948331 51948331 single base substitution T C intron_variant PACA-AU 1 51948447 51948447 single base substitution A G intron_variant PACA-AU 1 51948598 51948598 insertion of <=200bp - AC intron_variant PACA-AU 1 51952498 51952498 insertion of <=200bp - TG intron_variant PACA-AU 1 51954959 51954959 insertion of <=200bp - ATATATATAT intron_variant PACA-AU 1 51956385 51956385 single base substitution A G intron_variant PACA-AU 1 51959201 51959204 deletion of <=200bp TAAA - intron_variant PACA-AU 1 51960928 51960928 single base substitution C G intron_variant PACA-AU 1 51961392 51961392 single base substitution A T intron_variant PACA-AU 1 51963046 51963046 single base substitution T A intron_variant PACA-AU 1 51973932 51973932 single base substitution G A intron_variant PACA-AU 1 51974018 51974018 single base substitution A G intron_variant PACA-AU 1 51977453 51977453 deletion of <=200bp A - intron_variant PACA-AU 1 51979343 51979343 single base substitution C A intron_variant PACA-AU 1 51981472 51981472 single base substitution A C intron_variant PACA-AU 1 51985069 51985069 single base substitution C T upstream_gene_variant PACA-AU 1 51986683 51986683 single base substitution A G upstream_gene_variant PACA-CA 1 51821214 51821214 deletion of <=200bp A - 3_prime_UTR_variant PACA-CA 1 51821214 51821214 deletion of <=200bp A - downstream_gene_variant PACA-CA 1 51826849 51826849 single base substitution G A synonymous_variant F523F 1569C>T PACA-CA 1 51826849 51826849 single base substitution G A synonymous_variant F712F 2136C>T PACA-CA 1 51826849 51826849 single base substitution G A synonymous_variant F846F 2538C>T PACA-CA 1 51828447 51828447 single base substitution T A intron_variant PACA-CA 1 51829514 51829514 single base substitution G T intron_variant PACA-CA 1 51830315 51830315 single base substitution T C intron_variant PACA-CA 1 51831614 51831614 single base substitution C A intron_variant PACA-CA 1 51832151 51832151 single base substitution G A intron_variant PACA-CA 1 51837195 51837195 single base substitution G A intron_variant PACA-CA 1 51842350 51842350 insertion of <=200bp - A intron_variant PACA-CA 1 51843642 51843642 single base substitution A C intron_variant PACA-CA 1 51857127 51857127 insertion of <=200bp - AATAA downstream_gene_variant PACA-CA 1 51857127 51857127 insertion of <=200bp - AATAA intron_variant PACA-CA 1 51859514 51859514 single base substitution C T downstream_gene_variant PACA-CA 1 51859514 51859514 single base substitution C T intron_variant PACA-CA 1 51861211 51861211 single base substitution C T intron_variant PACA-CA 1 51864495 51864495 single base substitution C T downstream_gene_variant PACA-CA 1 51864495 51864495 single base substitution C T intron_variant PACA-CA 1 51866624 51866624 single base substitution A G downstream_gene_variant PACA-CA 1 51866624 51866624 single base substitution A G exon_variant PACA-CA 1 51866624 51866624 single base substitution A G splice_region_variant PACA-CA 1 51866698 51866698 single base substitution C T downstream_gene_variant PACA-CA 1 51866698 51866698 single base substitution C T exon_variant PACA-CA 1 51866698 51866698 single base substitution C T intron_variant PACA-CA 1 51870954 51870954 single base substitution T C intron_variant PACA-CA 1 51870954 51870954 single base substitution T C upstream_gene_variant PACA-CA 1 51874279 51874279 insertion of <=200bp - TGT intron_variant PACA-CA 1 51875085 51875085 single base substitution C G intron_variant PACA-CA 1 51875143 51875143 single base substitution C T intron_variant PACA-CA 1 51875660 51875660 single base substitution C T intron_variant PACA-CA 1 51878435 51878435 single base substitution T A intron_variant PACA-CA 1 51878785 51878785 single base substitution T C intron_variant PACA-CA 1 51890835 51890835 single base substitution G A intron_variant PACA-CA 1 51890835 51890835 single base substitution G A upstream_gene_variant PACA-CA 1 51892513 51892513 single base substitution A C intron_variant PACA-CA 1 51892513 51892513 single base substitution A C upstream_gene_variant PACA-CA 1 51892534 51892534 single base substitution C T intron_variant PACA-CA 1 51892534 51892534 single base substitution C T upstream_gene_variant PACA-CA 1 51896195 51896195 single base substitution G A intron_variant PACA-CA 1 51897573 51897573 single base substitution T G intron_variant PACA-CA 1 51900333 51900333 single base substitution C T intron_variant PACA-CA 1 51907050 51907050 single base substitution G A intron_variant PACA-CA 1 51908796 51908796 single base substitution C T intron_variant PACA-CA 1 51912867 51912867 single base substitution A C intron_variant PACA-CA 1 51917734 51917734 single base substitution A T intron_variant PACA-CA 1 51925556 51925556 single base substitution G A downstream_gene_variant PACA-CA 1 51925556 51925556 single base substitution G A intron_variant PACA-CA 1 51927044 51927044 single base substitution T C intron_variant PACA-CA 1 51927537 51927537 single base substitution A C intron_variant PACA-CA 1 51934014 51934014 single base substitution G A intron_variant PACA-CA 1 51934014 51934014 single base substitution G A upstream_gene_variant PACA-CA 1 51934800 51934800 deletion of <=200bp A - intron_variant PACA-CA 1 51934800 51934800 deletion of <=200bp A - upstream_gene_variant PACA-CA 1 51935724 51935724 single base substitution C T intron_variant PACA-CA 1 51935724 51935724 single base substitution C T upstream_gene_variant PACA-CA 1 51938903 51938903 single base substitution C T intron_variant PACA-CA 1 51942280 51942280 single base substitution C A intron_variant PACA-CA 1 51947317 51947317 single base substitution G A intron_variant PACA-CA 1 51947848 51947848 insertion of <=200bp - A intron_variant PACA-CA 1 51948434 51948434 single base substitution G A intron_variant PACA-CA 1 51955900 51955900 single base substitution A C intron_variant PACA-CA 1 51957307 51957307 single base substitution T A intron_variant PACA-CA 1 51958771 51958771 single base substitution C T intron_variant PACA-CA 1 51959236 51959236 single base substitution A G intron_variant PACA-CA 1 51959294 51959294 single base substitution T G intron_variant PACA-CA 1 51966419 51966419 single base substitution G A intron_variant PACA-CA 1 51967600 51967600 single base substitution C T intron_variant PACA-CA 1 51970182 51970182 single base substitution C T intron_variant PACA-CA 1 51980046 51980046 single base substitution T A intron_variant PACA-CA 1 51983852 51983852 single base substitution T C intron_variant PACA-CA 1 51985904 51985904 single base substitution T G upstream_gene_variant PACA-CA 1 51989220 51989220 single base substitution C T upstream_gene_variant PAEN-AU 1 51853758 51853758 single base substitution C T intron_variant PAEN-AU 1 51858237 51858237 single base substitution T C downstream_gene_variant PAEN-AU 1 51858237 51858237 single base substitution T C intron_variant PAEN-AU 1 51876310 51876310 single base substitution G C intron_variant PAEN-AU 1 51931156 51931156 single base substitution T C intron_variant PAEN-AU 1 51931156 51931156 single base substitution T C upstream_gene_variant PAEN-AU 1 51959201 51959201 insertion of <=200bp - TAAA intron_variant PAEN-AU 1 51959201 51959204 deletion of <=200bp TAAA - intron_variant PAEN-AU 1 51959250 51959251 deletion of <=200bp AA - intron_variant PAEN-AU 1 51964414 51964414 single base substitution T C intron_variant PAEN-AU 1 51973932 51973932 single base substitution G A intron_variant PAEN-AU 1 51987744 51987744 single base substitution C A upstream_gene_variant PAEN-IT 1 51871196 51871196 single base substitution C T intron_variant PAEN-IT 1 51871196 51871196 single base substitution C T upstream_gene_variant PAEN-IT 1 51893747 51893747 single base substitution G A intron_variant PAEN-IT 1 51893747 51893747 single base substitution G A upstream_gene_variant PAEN-IT 1 51897518 51897518 single base substitution C T intron_variant PBCA-DE 1 51820670 51820670 single base substitution A T 3_prime_UTR_variant PBCA-DE 1 51820670 51820670 single base substitution A T downstream_gene_variant PBCA-DE 1 51822188 51822188 single base substitution G A 3_prime_UTR_variant PBCA-DE 1 51833991 51833991 single base substitution T A intron_variant PBCA-DE 1 51843268 51843268 single base substitution A C intron_variant PBCA-DE 1 51850148 51850148 insertion of <=200bp - T intron_variant PBCA-DE 1 51859884 51859884 single base substitution A T downstream_gene_variant PBCA-DE 1 51859884 51859884 single base substitution A T exon_variant PBCA-DE 1 51859884 51859884 single base substitution A T intron_variant PBCA-DE 1 51881307 51881307 insertion of <=200bp - A intron_variant PBCA-DE 1 51885086 51885086 single base substitution A G intron_variant PBCA-DE 1 51887957 51887957 single base substitution C T intron_variant PBCA-DE 1 51887957 51887957 single base substitution C T upstream_gene_variant PBCA-DE 1 51890575 51890575 insertion of <=200bp - A intron_variant PBCA-DE 1 51890575 51890575 insertion of <=200bp - A upstream_gene_variant PBCA-DE 1 51897971 51897971 insertion of <=200bp - TATG intron_variant PBCA-DE 1 51909811 51909811 single base substitution G T intron_variant PBCA-DE 1 51920886 51920889 deletion of <=200bp TAAC - downstream_gene_variant PBCA-DE 1 51920886 51920889 deletion of <=200bp TAAC - intron_variant PBCA-DE 1 51932296 51932296 deletion of <=200bp A - intron_variant PBCA-DE 1 51932296 51932296 deletion of <=200bp A - upstream_gene_variant PBCA-DE 1 51936368 51936368 single base substitution G T intron_variant PBCA-DE 1 51951936 51951936 deletion of <=200bp A - intron_variant PBCA-DE 1 51954959 51954960 deletion of <=200bp AT - intron_variant PBCA-DE 1 51957731 51957731 single base substitution G T intron_variant PBCA-DE 1 51966872 51966872 single base substitution G A intron_variant PBCA-DE 1 51969741 51969741 single base substitution C A intron_variant PBCA-DE 1 51980987 51980987 single base substitution T A intron_variant PRAD-CA 1 51817098 51817098 single base substitution C G downstream_gene_variant PRAD-CA 1 51859501 51859501 single base substitution C T downstream_gene_variant PRAD-CA 1 51859501 51859501 single base substitution C T intron_variant PRAD-CA 1 51884918 51884918 single base substitution G A intron_variant PRAD-CA 1 51886630 51886630 single base substitution T C intron_variant PRAD-CA 1 51928043 51928043 single base substitution G A intron_variant PRAD-CA 1 51933352 51933352 single base substitution T C intron_variant PRAD-CA 1 51933352 51933352 single base substitution T C upstream_gene_variant PRAD-CA 1 51955230 51955230 single base substitution C T intron_variant PRAD-CA 1 51973938 51973938 single base substitution G A intron_variant PRAD-CA 1 51982174 51982174 single base substitution T C intron_variant PRAD-UK 1 51845554 51845554 single base substitution T A intron_variant PRAD-UK 1 51847355 51847355 single base substitution A G intron_variant PRAD-UK 1 51849222 51849222 single base substitution A C intron_variant PRAD-UK 1 51872466 51872466 single base substitution T G intron_variant PRAD-UK 1 51872466 51872466 single base substitution T G upstream_gene_variant PRAD-UK 1 51903604 51903605 deletion of <=200bp TA - intron_variant PRAD-UK 1 51906389 51906389 single base substitution C T intron_variant PRAD-UK 1 51916711 51916711 single base substitution C T intron_variant PRAD-UK 1 51922724 51922724 single base substitution G A downstream_gene_variant PRAD-UK 1 51922724 51922724 single base substitution G A intron_variant PRAD-UK 1 51931318 51931318 single base substitution G A intron_variant PRAD-UK 1 51931318 51931318 single base substitution G A upstream_gene_variant PRAD-UK 1 51936064 51936064 deletion of <=200bp C - intron_variant PRAD-UK 1 51940112 51940112 single base substitution T C intron_variant PRAD-UK 1 51947165 51947165 single base substitution C A intron_variant PRAD-UK 1 51947849 51947849 insertion of <=200bp - A intron_variant PRAD-UK 1 51949007 51949007 single base substitution A C intron_variant PRAD-UK 1 51950261 51950261 single base substitution G C intron_variant PRAD-UK 1 51953385 51953385 single base substitution A G intron_variant PRAD-UK 1 51983471 51983471 single base substitution A C intron_variant PRAD-UK 1 51989776 51989776 insertion of <=200bp - G upstream_gene_variant PRAD-US 1 51826841 51826841 single base substitution A G splice_donor_variant READ-US 1 51913778 51913778 single base substitution C A missense_variant E197D 591G>T READ-US 1 51946959 51946959 single base substitution T G exon_variant READ-US 1 51946959 51946959 single base substitution T G missense_variant K21Q 61A>C RECA-EU 1 51817654 51817654 single base substitution G C downstream_gene_variant RECA-EU 1 51822489 51822489 single base substitution C A missense_variant W535C 1605G>T RECA-EU 1 51822489 51822489 single base substitution C A missense_variant W724C 2172G>T RECA-EU 1 51822489 51822489 single base substitution C A missense_variant W858C 2574G>T RECA-EU 1 51839426 51839426 single base substitution C A intron_variant RECA-EU 1 51841711 51841711 single base substitution C G intron_variant RECA-EU 1 51846849 51846849 single base substitution A T intron_variant RECA-EU 1 51847179 51847179 single base substitution T A intron_variant RECA-EU 1 51859000 51859000 single base substitution G A downstream_gene_variant RECA-EU 1 51859000 51859000 single base substitution G A intron_variant RECA-EU 1 51868765 51868765 single base substitution G T downstream_gene_variant RECA-EU 1 51868765 51868765 single base substitution G T intron_variant RECA-EU 1 51868765 51868765 single base substitution G T upstream_gene_variant RECA-EU 1 51874548 51874548 single base substitution T A intron_variant RECA-EU 1 51875793 51875793 single base substitution C T intron_variant RECA-EU 1 51888135 51888135 single base substitution C G intron_variant RECA-EU 1 51888135 51888135 single base substitution C G upstream_gene_variant RECA-EU 1 51899830 51899830 single base substitution C G intron_variant RECA-EU 1 51899845 51899845 single base substitution T A intron_variant RECA-EU 1 51899847 51899847 single base substitution C T intron_variant RECA-EU 1 51899874 51899874 single base substitution C G intron_variant RECA-EU 1 51899917 51899917 single base substitution C T intron_variant RECA-EU 1 51900352 51900352 single base substitution T C intron_variant RECA-EU 1 51906364 51906364 single base substitution G A intron_variant RECA-EU 1 51919037 51919037 single base substitution A T downstream_gene_variant RECA-EU 1 51919037 51919037 single base substitution A T intron_variant RECA-EU 1 51920315 51920315 single base substitution C T downstream_gene_variant RECA-EU 1 51920315 51920315 single base substitution C T intron_variant RECA-EU 1 51958166 51958166 single base substitution G A intron_variant RECA-EU 1 51970936 51970936 single base substitution A G intron_variant RECA-EU 1 51971379 51971379 single base substitution A C intron_variant RECA-EU 1 51974010 51974010 single base substitution G A intron_variant RECA-EU 1 51975277 51975277 single base substitution A T intron_variant RECA-EU 1 51982022 51982022 single base substitution G A intron_variant SKCA-BR 1 51817330 51817330 single base substitution T C downstream_gene_variant SKCA-BR 1 51818118 51818118 single base substitution G A downstream_gene_variant SKCA-BR 1 51818560 51818560 insertion of <=200bp - GT downstream_gene_variant SKCA-BR 1 51818988 51818988 insertion of <=200bp - TTTG downstream_gene_variant SKCA-BR 1 51819361 51819361 single base substitution A C downstream_gene_variant SKCA-BR 1 51823062 51823075 deletion of <=200bp AAATATATATATAT - intron_variant SKCA-BR 1 51823097 51823098 deletion of <=200bp TA - intron_variant SKCA-BR 1 51824375 51824381 deletion of <=200bp TTTTTTG - intron_variant SKCA-BR 1 51825115 51825115 insertion of <=200bp - TA intron_variant SKCA-BR 1 51825323 51825323 single base substitution G A intron_variant SKCA-BR 1 51828969 51828969 insertion of <=200bp - CA intron_variant SKCA-BR 1 51828988 51828988 single base substitution G A intron_variant SKCA-BR 1 51831570 51831570 single base substitution T C intron_variant SKCA-BR 1 51835031 51835031 single base substitution G T intron_variant SKCA-BR 1 51835605 51835605 single base substitution C T intron_variant SKCA-BR 1 51836296 51836296 insertion of <=200bp - GT intron_variant SKCA-BR 1 51837897 51837897 single base substitution G A intron_variant SKCA-BR 1 51839673 51839673 single base substitution G A intron_variant SKCA-BR 1 51840213 51840213 single base substitution T G intron_variant SKCA-BR 1 51842713 51842713 single base substitution T G intron_variant SKCA-BR 1 51845408 51845408 single base substitution G A intron_variant SKCA-BR 1 51846732 51846732 single base substitution G A intron_variant SKCA-BR 1 51846781 51846781 insertion of <=200bp - TTCAATGTGAATAAAACAGAAGA intron_variant SKCA-BR 1 51848435 51848435 single base substitution G A intron_variant SKCA-BR 1 51849970 51849970 single base substitution C T intron_variant SKCA-BR 1 51850903 51850903 single base substitution A C intron_variant SKCA-BR 1 51853039 51853039 single base substitution G A intron_variant SKCA-BR 1 51853477 51853477 single base substitution C T intron_variant SKCA-BR 1 51853480 51853480 single base substitution A T intron_variant SKCA-BR 1 51853599 51853599 single base substitution A C intron_variant SKCA-BR 1 51855366 51855366 single base substitution A T downstream_gene_variant SKCA-BR 1 51855366 51855366 single base substitution A T intron_variant SKCA-BR 1 51855371 51855371 single base substitution T G downstream_gene_variant SKCA-BR 1 51855371 51855371 single base substitution T G intron_variant SKCA-BR 1 51855378 51855378 single base substitution T C downstream_gene_variant SKCA-BR 1 51855378 51855378 single base substitution T C intron_variant SKCA-BR 1 51855385 51855385 single base substitution C A downstream_gene_variant SKCA-BR 1 51855385 51855385 single base substitution C A intron_variant SKCA-BR 1 51855566 51855566 single base substitution G A downstream_gene_variant SKCA-BR 1 51855566 51855566 single base substitution G A intron_variant SKCA-BR 1 51857127 51857127 insertion of <=200bp - TAATAA downstream_gene_variant SKCA-BR 1 51857127 51857127 insertion of <=200bp - TAATAA intron_variant SKCA-BR 1 51858251 51858251 single base substitution G A downstream_gene_variant SKCA-BR 1 51858251 51858251 single base substitution G A intron_variant SKCA-BR 1 51867379 51867379 single base substitution G A downstream_gene_variant SKCA-BR 1 51867379 51867379 single base substitution G A intron_variant SKCA-BR 1 51867379 51867379 single base substitution G A upstream_gene_variant SKCA-BR 1 51868673 51868673 single base substitution T A downstream_gene_variant SKCA-BR 1 51868673 51868673 single base substitution T A intron_variant SKCA-BR 1 51868673 51868673 single base substitution T A upstream_gene_variant SKCA-BR 1 51874469 51874469 insertion of <=200bp - AT intron_variant SKCA-BR 1 51874784 51874784 single base substitution G A intron_variant SKCA-BR 1 51879573 51879573 single base substitution A C intron_variant SKCA-BR 1 51885484 51885484 single base substitution T C intron_variant SKCA-BR 1 51887011 51887011 single base substitution G A intron_variant SKCA-BR 1 51887718 51887718 insertion of <=200bp - TA exon_variant SKCA-BR 1 51887718 51887718 insertion of <=200bp - TA intron_variant SKCA-BR 1 51889824 51889824 single base substitution A T intron_variant SKCA-BR 1 51889824 51889824 single base substitution A T upstream_gene_variant SKCA-BR 1 51889825 51889828 deletion of <=200bp GAAA - intron_variant SKCA-BR 1 51889825 51889828 deletion of <=200bp GAAA - upstream_gene_variant SKCA-BR 1 51892489 51892489 insertion of <=200bp - GTC intron_variant SKCA-BR 1 51892489 51892489 insertion of <=200bp - GTC upstream_gene_variant SKCA-BR 1 51892509 51892509 insertion of <=200bp - CTA intron_variant SKCA-BR 1 51892509 51892509 insertion of <=200bp - CTA upstream_gene_variant SKCA-BR 1 51892509 51892509 insertion of <=200bp - CTCTCTCTCTATATATA intron_variant SKCA-BR 1 51892509 51892509 insertion of <=200bp - CTCTCTCTCTATATATA upstream_gene_variant SKCA-BR 1 51893711 51893711 single base substitution G A intron_variant SKCA-BR 1 51893711 51893711 single base substitution G A upstream_gene_variant SKCA-BR 1 51894381 51894381 single base substitution C T intron_variant SKCA-BR 1 51894861 51894861 single base substitution G A intron_variant SKCA-BR 1 51896701 51896701 single base substitution A C intron_variant SKCA-BR 1 51897076 51897076 single base substitution T G intron_variant SKCA-BR 1 51897105 51897105 single base substitution G A intron_variant SKCA-BR 1 51897123 51897123 single base substitution C T intron_variant SKCA-BR 1 51898325 51898325 single base substitution C T intron_variant SKCA-BR 1 51898630 51898630 single base substitution G A intron_variant SKCA-BR 1 51904952 51904952 single base substitution G A intron_variant SKCA-BR 1 51906205 51906205 single base substitution A C intron_variant SKCA-BR 1 51907282 51907283 deletion of <=200bp GC - intron_variant SKCA-BR 1 51912457 51912457 single base substitution A G intron_variant SKCA-BR 1 51915584 51915584 single base substitution A G intron_variant SKCA-BR 1 51919372 51919372 single base substitution G A downstream_gene_variant SKCA-BR 1 51919372 51919372 single base substitution G A intron_variant SKCA-BR 1 51919721 51919721 insertion of <=200bp - CA downstream_gene_variant SKCA-BR 1 51919721 51919721 insertion of <=200bp - CA intron_variant SKCA-BR 1 51921046 51921046 single base substitution G A downstream_gene_variant SKCA-BR 1 51921046 51921046 single base substitution G A intron_variant SKCA-BR 1 51921048 51921048 single base substitution G A downstream_gene_variant SKCA-BR 1 51921048 51921048 single base substitution G A intron_variant SKCA-BR 1 51921617 51921617 single base substitution T A downstream_gene_variant SKCA-BR 1 51921617 51921617 single base substitution T A intron_variant SKCA-BR 1 51923097 51923097 single base substitution G A downstream_gene_variant SKCA-BR 1 51923097 51923097 single base substitution G A intron_variant SKCA-BR 1 51923208 51923208 single base substitution C T downstream_gene_variant SKCA-BR 1 51923208 51923208 single base substitution C T exon_variant SKCA-BR 1 51923208 51923208 single base substitution C T intron_variant SKCA-BR 1 51926621 51926621 single base substitution G T downstream_gene_variant SKCA-BR 1 51926621 51926621 single base substitution G T exon_variant SKCA-BR 1 51926621 51926621 single base substitution G T intron_variant SKCA-BR 1 51926887 51926887 single base substitution G A intron_variant SKCA-BR 1 51927872 51927872 single base substitution T A intron_variant SKCA-BR 1 51930188 51930188 single base substitution A C intron_variant SKCA-BR 1 51935486 51935486 single base substitution G A intron_variant SKCA-BR 1 51935486 51935486 single base substitution G A upstream_gene_variant SKCA-BR 1 51936319 51936319 single base substitution A C intron_variant SKCA-BR 1 51942183 51942183 single base substitution G A intron_variant SKCA-BR 1 51942676 51942676 single base substitution G A intron_variant SKCA-BR 1 51944263 51944263 single base substitution T G intron_variant SKCA-BR 1 51945189 51945189 single base substitution C T intron_variant SKCA-BR 1 51947019 51947019 single base substitution T C intron_variant SKCA-BR 1 51947586 51947586 single base substitution A T intron_variant SKCA-BR 1 51948192 51948192 single base substitution G A intron_variant SKCA-BR 1 51951258 51951258 single base substitution A T intron_variant SKCA-BR 1 51955084 51955084 single base substitution C T intron_variant SKCA-BR 1 51959127 51959127 single base substitution G A intron_variant SKCA-BR 1 51959367 51959367 single base substitution T A intron_variant SKCA-BR 1 51959497 51959497 single base substitution G A intron_variant SKCA-BR 1 51959796 51959796 single base substitution C G intron_variant SKCA-BR 1 51961013 51961013 single base substitution A T intron_variant SKCA-BR 1 51962802 51962802 single base substitution A G intron_variant SKCA-BR 1 51963053 51963053 single base substitution G A intron_variant SKCA-BR 1 51964190 51964190 single base substitution A G intron_variant SKCA-BR 1 51966280 51966280 single base substitution C T intron_variant SKCA-BR 1 51973027 51973027 single base substitution G A intron_variant SKCA-BR 1 51973028 51973028 single base substitution G A intron_variant SKCA-BR 1 51973858 51973863 deletion of <=200bp GAGAAA - intron_variant SKCA-BR 1 51973942 51973942 insertion of <=200bp - GAA intron_variant SKCA-BR 1 51974010 51974018 deletion of <=200bp GAGAAAGAA - intron_variant SKCA-BR 1 51977517 51977517 single base substitution G A intron_variant SKCA-BR 1 51979245 51979245 single base substitution G A intron_variant SKCA-BR 1 51981158 51981158 single base substitution A C intron_variant SKCA-BR 1 51983838 51983838 single base substitution T G intron_variant SKCA-BR 1 51984824 51984824 single base substitution A G intron_variant SKCA-BR 1 51987875 51987875 single base substitution T A upstream_gene_variant SKCA-BR 1 51988492 51988492 single base substitution C T upstream_gene_variant SKCM-US 1 51822432 51822432 single base substitution C G missense_variant Q554H 1662G>C SKCM-US 1 51822432 51822432 single base substitution C G missense_variant Q743H 2229G>C SKCM-US 1 51822432 51822432 single base substitution C G missense_variant Q877H 2631G>C SKCM-US 1 51869204 51869204 single base substitution C T missense_variant A237T 709G>A SKCM-US 1 51869204 51869204 single base substitution C T missense_variant A426T 1276G>A SKCM-US 1 51869204 51869204 single base substitution C T missense_variant A560T 1678G>A SKCM-US 1 51869204 51869204 single base substitution C T splice_region_variant SKCM-US 1 51869204 51869204 single base substitution C T upstream_gene_variant SKCM-US 1 51929354 51929354 single base substitution G A 3_prime_UTR_variant SKCM-US 1 51929354 51929354 single base substitution G A exon_variant SKCM-US 1 51929354 51929354 single base substitution G A synonymous_variant I164I 492C>T SKCM-US 1 51934234 51934234 single base substitution A C exon_variant SKCM-US 1 51934234 51934234 single base substitution A C intron_variant SKCM-US 1 51934234 51934234 single base substitution A C missense_variant F74V 220T>G SKCM-US 1 51934234 51934234 single base substitution A C upstream_gene_variant STAD-US 1 51826915 51826915 single base substitution A G synonymous_variant C501C 1503T>C STAD-US 1 51826915 51826915 single base substitution A G synonymous_variant C690C 2070T>C STAD-US 1 51826915 51826915 single base substitution A G synonymous_variant C824C 2472T>C STAD-US 1 51934212 51934212 single base substitution G A exon_variant STAD-US 1 51934212 51934212 single base substitution G A intron_variant STAD-US 1 51934212 51934212 single base substitution G A missense_variant A81V 242C>T STAD-US 1 51934212 51934212 single base substitution G A upstream_gene_variant STAD-US 1 51938529 51938529 single base substitution A G splice_donor_variant STAD-US 1 51938555 51938555 single base substitution C T exon_variant STAD-US 1 51938555 51938555 single base substitution C T synonymous_variant G47G 141G>A THCA-SA 1 51820325 51820325 single base substitution C T 3_prime_UTR_variant THCA-SA 1 51820325 51820325 single base substitution C T downstream_gene_variant THCA-SA 1 51820990 51820990 single base substitution T G 3_prime_UTR_variant THCA-SA 1 51820990 51820990 single base substitution T G downstream_gene_variant THCA-SA 1 51826921 51826921 single base substitution T C missense_variant I499M 1497A>G THCA-SA 1 51826921 51826921 single base substitution T C missense_variant I688M 2064A>G THCA-SA 1 51826921 51826921 single base substitution T C missense_variant I822M 2466A>G UCEC-US 1 51827000 51827000 single base substitution G T missense_variant S473Y 1418C>A UCEC-US 1 51827000 51827000 single base substitution G T missense_variant S662Y 1985C>A UCEC-US 1 51827000 51827000 single base substitution G T missense_variant S796Y 2387C>A UCEC-US 1 51829567 51829567 single base substitution G T missense_variant T454N 1361C>A UCEC-US 1 51829567 51829567 single base substitution G T missense_variant T643N 1928C>A UCEC-US 1 51829567 51829567 single base substitution G T missense_variant T777N 2330C>A UCEC-US 1 51829598 51829598 single base substitution C A stop_gained E444* 1330G>T UCEC-US 1 51829598 51829598 single base substitution C A stop_gained E633* 1897G>T UCEC-US 1 51829598 51829598 single base substitution C A stop_gained E767* 2299G>T UCEC-US 1 51829615 51829615 single base substitution G A missense_variant S438L 1313C>T UCEC-US 1 51829615 51829615 single base substitution G A missense_variant S627L 1880C>T UCEC-US 1 51829615 51829615 single base substitution G A missense_variant S761L 2282C>T UCEC-US 1 51831687 51831687 insertion of <=200bp - A frameshift_variant A389V? UCEC-US 1 51831687 51831687 insertion of <=200bp - A frameshift_variant A578V? UCEC-US 1 51831687 51831687 insertion of <=200bp - A frameshift_variant A712V? UCEC-US 1 51860060 51860060 single base substitution G A downstream_gene_variant UCEC-US 1 51860060 51860060 single base substitution G A exon_variant UCEC-US 1 51860060 51860060 single base substitution G A synonymous_variant S381S 1143C>T UCEC-US 1 51860060 51860060 single base substitution G A synonymous_variant S570S 1710C>T UCEC-US 1 51860060 51860060 single base substitution G A synonymous_variant S704S 2112C>T UCEC-US 1 51864730 51864730 single base substitution C T downstream_gene_variant UCEC-US 1 51864730 51864730 single base substitution C T exon_variant UCEC-US 1 51864730 51864730 single base substitution C T missense_variant A353T 1057G>A UCEC-US 1 51864730 51864730 single base substitution C T missense_variant A542T 1624G>A UCEC-US 1 51864730 51864730 single base substitution C T missense_variant A676T 2026G>A UCEC-US 1 51864819 51864819 single base substitution G T downstream_gene_variant UCEC-US 1 51864819 51864819 single base substitution G T exon_variant UCEC-US 1 51864819 51864819 single base substitution G T missense_variant P323H 968C>A UCEC-US 1 51864819 51864819 single base substitution G T missense_variant P512H 1535C>A UCEC-US 1 51864819 51864819 single base substitution G T missense_variant P646H 1937C>A UCEC-US 1 51871770 51871770 single base substitution T G exon_variant UCEC-US 1 51871770 51871770 single base substitution T G intron_variant UCEC-US 1 51871770 51871770 single base substitution T G missense_variant K172T 515A>C UCEC-US 1 51871770 51871770 single base substitution T G missense_variant K495T 1484A>C UCEC-US 1 51871770 51871770 single base substitution T G upstream_gene_variant UCEC-US 1 51873966 51873966 single base substitution C T exon_variant UCEC-US 1 51873966 51873966 single base substitution C T intron_variant UCEC-US 1 51873966 51873966 single base substitution C T synonymous_variant S115S 345G>A UCEC-US 1 51873966 51873966 single base substitution C T synonymous_variant S438S 1314G>A UCEC-US 1 51873966 51873966 single base substitution C T upstream_gene_variant UCEC-US 1 51913765 51913765 single base substitution G C missense_variant P202A 604C>G UCEC-US 1 51913791 51913791 single base substitution T C missense_variant Y193C 578A>G UCEC-US 1 51946946 51946946 single base substitution T G missense_variant Q25P 74A>C UCEC-US 1 51946946 51946946 single base substitution T G splice_region_variant

Mutation - COSMIC Sample Name Mutation ID Mutation CDS Mutation AA Mutation Description Mutation Genome Position Mutation Strand RK184_C01 COSM1627104 c.1792-8A>G p.? Unknown 1:51402533-51402533 - H1155 COSM1195837 c.667G>A p.A223T Substitution - Missense 1:51447090-51447090 - TCGA-AD-6895-01 COSM1343283 c.2394T>A p.D798E Substitution - Missense 1:51361321-51361321 - CHC892T COSM4798452 c.2631G>A p.Q877Q Substitution - coding silent 1:51356760-51356760 - TCGA-IR-A3LL-01 COSM4849580 c.1760C>G p.S587C Substitution - Missense 1:51403450-51403450 - Gp5D COSM2192435 c.694T>C p.F232L Substitution - Missense 1:51447063-51447063 - TCGA-EW-A1OV-01 COSM1474059 c.1278C>G p.I426M Substitution - Missense 1:51408330-51408330 - TCGA-DK-A3X1-01 COSM3790113 c.252G>A p.Q84Q Substitution - coding silent 1:51468530-51468530 - DLD1 COSM2192429 c.1286T>C p.L429P Substitution - Missense 1:51408322-51408322 - RMS112_ COSM3735975 c.2466A>G p.I822M Substitution - Missense 1:51361249-51361249 - PT19_1 COSM5899349 c.1885G>T p.D629Y Substitution - Missense 1:51400951-51400951 - TCGA-AX-A0J1-01 COSM910537 c.2133_2134insT p.A712fs*7 Insertion - Frameshift 1:51366015-51366016 - TCGA-AX-A05Z-01 COSM910535 c.2299G>T p.E767* Substitution - Nonsense 1:51363926-51363926 - LS513 COSM2192428 c.1382C>A p.T461K Substitution - Missense 1:51408226-51408226 - P61 COSM5009736 c.973C>G p.P325A Substitution - Missense 1:51440414-51440414 - ESCC_36 COSM5628730 c.1883G>A p.S628N Substitution - Missense 1:51400953-51400953 - HH14 COSM3728042 c.1016A>G p.N339S Substitution - Missense 1:51440371-51440371 - CSCC-27-T COSM4474702 c.1937C>T p.P646L Substitution - Missense 1:51399147-51399147 - D19 COSM5007720 c.1601G>A p.S534N Substitution - Missense 1:51405981-51405981 - TCGA-AR-A1AT-01 COSM426421 c.1931G>T p.G644V Substitution - Missense 1:51399153-51399153 - PT52 COSM5938638 c.652-8C>T p.? Unknown 1:51447113-51447113 - TCGA-EE-A2M6-06 COSM3490624 c.220T>G p.F74V Substitution - Missense 1:51468562-51468562 - B101-Tumor COSM1748495 c.1204G>A p.D402N Substitution - Missense 1:51409606-51409606 - B65 COSM1748494 c.2364A>T p.K788N Substitution - Missense 1:51361351-51361351 - 61 COSM5735455 c.2431G>T p.G811C Substitution - Missense 1:51361284-51361284 - TCGA-BR-8487-01 COSM4008726 c.242C>T p.A81V Substitution - Missense 1:51468540-51468540 - PCSI_0066_Pa_X COSM3377217 c.2538C>T p.F846F Substitution - coding silent 1:51361177-51361177 - CSCC-18-T COSM2192427 c.1565G>A p.G522E Substitution - Missense 1:51406017-51406017 - T3091 COSM4681445 c.1795G>T p.D599Y Substitution - Missense 1:51402522-51402522 - 206T COSM1726872 c.2089G>A p.G697S Substitution - Missense 1:51394411-51394411 - D19 COSM5007718 c.1602T>G p.S534R Substitution - Missense 1:51405980-51405980 - PT08_2 COSM5892574 c.1871C>T p.P624L Substitution - Missense 1:51402446-51402446 - SC_9022 COSM5547383 c.202_213+9del21 p.? Unknown 1:51471681-51471701 - Gp2D COSM2192435 c.694T>C p.F232L Substitution - Missense 1:51447063-51447063 - TCGA-D8-A1XK-01 COSM3805516 c.1755T>A p.V585V Substitution - coding silent 1:51403455-51403455 - LAU63 COSM234676 c.663C>T p.S221S Substitution - coding silent 1:51447094-51447094 - STC252 COSM5053569 c.938G>T p.R313M Substitution - Missense 1:51444905-51444905 - TCGA-AP-A0LM-01 COSM910540 c.1937C>A p.P646H Substitution - Missense 1:51399147-51399147 - ESO-0025 COSM1251399 c.1125T>C p.D375D Substitution - coding silent 1:51409685-51409685 - OSCC-GB_00730111 COSM4889046 c.652T>G p.W218G Substitution - Missense 1:51447105-51447105 - HA7-RCC COSM28374 c.813A>C p.T271T Substitution - coding silent 1:51445030-51445030 - RMS80_ COSM3735975 c.2466A>G p.I822M Substitution - Missense 1:51361249-51361249 - TCGA-66-2785-01 COSM681835 c.2594G>A p.R865K Substitution - Missense 1:51356797-51356797 - BN30T COSM1602523 c.473_474delCT p.S158fs*1 Deletion - Frameshift 1:51463700-51463701 - TCGA-Q1-A6DW-01 COSM4855867 c.901C>G p.H301D Substitution - Missense 1:51444942-51444942 - TCGA-D5-6529-01 COSM1343286 c.1501G>T p.D501Y Substitution - Missense 1:51406081-51406081 - 2492729 COSM5726770 c.314A>G p.D105G Substitution - Missense 1:51465322-51465322 - TCGA-C5-A1BJ-01 COSM4830670 c.776C>G p.S259C Substitution - Missense 1:51446981-51446981 - SH-0622 COSM5017294 c.617_618insA p.P207fs*8 Insertion - Frameshift 1:51448079-51448080 - TCGA-BR-8591-01 COSM4008728 c.141G>A p.G47G Substitution - coding silent 1:51472883-51472883 - B65-Tumor COSM1748494 c.2364A>T p.K788N Substitution - Missense 1:51361351-51361351 - TCGA-D8-A1XK-01 COSM3805515 c.1903C>A p.P635T Substitution - Missense 1:51400933-51400933 - sysucc-311T COSM5478813 c.2455G>T p.D819Y Substitution - Missense 1:51361260-51361260 - PDA_052 COSM5000781 c.368C>T p.A123V Substitution - Missense 1:51465268-51465268 - ATL012 COSM5705484 c.746G>A p.R249H Substitution - Missense 1:51447011-51447011 - TCGA-21-1070-01 COSM681834 c.2308G>T p.A770S Substitution - Missense 1:51363917-51363917 - SW480 COSM4655672 c.437T>G p.L146R Substitution - Missense 1:51463737-51463737 - 105T COSM1725134 c.2246A>T p.N749I Substitution - Missense 1:51363979-51363979 - 631052 COSM325266 c.573G>C p.L191F Substitution - Missense 1:51448124-51448124 - HCC68 COSM1602524 c.165+4G>T p.? Unknown 1:51472855-51472855 - B86-Tumor COSM1748496 c.902A>T p.H301L Substitution - Missense 1:51444941-51444941 - TCGA-BR-8680-01 COSM4008725 c.2472T>C p.C824C Substitution - coding silent 1:51361243-51361243 - CSCC-40-T COSM4521490 c.1114G>A p.D372N Substitution - Missense 1:51409696-51409696 - TCGA-D1-A167-01 COSM910534 c.2330C>A p.T777N Substitution - Missense 1:51363895-51363895 - 049T COSM1729825 c.1474-1G>A p.? Unknown 1:51406109-51406109 - TCGA-F5-6814-01 COSM3419294 c.591G>T p.E197D Substitution - Missense 1:51448106-51448106 - TCGA-AZ-4315-01 COSM280839 c.1047G>T p.K349N Substitution - Missense 1:51421852-51421852 - 432 COSM4433539 c.198T>C p.G66G Substitution - coding silent 1:51471705-51471705 - TCGA-D1-A0ZO-01 COSM910542 c.1314G>A p.S438S Substitution - coding silent 1:51408294-51408294 - TCGA-AX-A05Z-01 COSM910541 c.1484A>C p.K495T Substitution - Missense 1:51406098-51406098 - TCGA-GV-A3JZ-01 COSM1296554 c.649A>T p.T217S Substitution - Missense 1:51448048-51448048 - HCC135T COSM5823074 c.508G>A p.E170K Substitution - Missense 1:51461144-51461144 - PR-01-1934 COSM244296 c.517G>A p.D173N Substitution - Missense 1:51461135-51461135 - TCGA-CH-5764-01 COSM1126995 c.2544+2T>C p.? Unknown 1:51361169-51361169 - 7T COSM3711647 c.1706C>T p.S569F Substitution - Missense 1:51403504-51403504 - PDA_074 COSM3735975 c.2466A>G p.I822M Substitution - Missense 1:51361249-51361249 - TCGA-AA-3837-01 COSM295134 c.1917C>T p.I639I Substitution - coding silent 1:51400919-51400919 - 8067211 COSM3771768 c.1834G>A p.V612I Substitution - Missense 1:51402483-51402483 - TCGA-EE-A29A-06 COSM3490622 c.1678G>A p.A560T Substitution - Missense 1:51403532-51403532 - PT37 COSM5381192 c.2218C>T p.R740C Substitution - Missense 1:51364007-51364007 - TCGA-AP-A0LM-01 COSM910539 c.2026G>A p.A676T Substitution - Missense 1:51399058-51399058 - TCGA-AA-3663-01 COSM1343285 c.2069A>G p.H690R Substitution - Missense 1:51394431-51394431 - TCGA-06-5858-01 COSM3400867 c.2219G>A p.R740H Substitution - Missense 1:51364006-51364006 - HCA7 COSM4612037 c.2264_2265insA p.N755fs*4 Insertion - Frameshift 1:51363960-51363961 - GC8_T COSM146508 c.2534A>G p.N845S Substitution - Missense 1:51361181-51361181 - TCGA-HE-A5NI-01 COSM4414244 c.34T>G p.L12V Substitution - Missense 1:51481314-51481314 - TCGA-GN-A266-06 COSM3490623 c.492C>T p.I164I Substitution - coding silent 1:51463682-51463682 - TCGA-CM-5861-01 COSM5827925 c.1919-3delT p.? Unknown 1:51399168-51399168 - TCGA-FD-A3B3-01 COSM1296553 c.711A>G p.K237K Substitution - coding silent 1:51447046-51447046 - PCSI_0090_Pa_X COSM3377218 c.1884T>C p.S628S Substitution - coding silent 1:51400952-51400952 - ESCC_168 COSM5648661 c.833C>G p.S278* Substitution - Nonsense 1:51445010-51445010 - TCGA-EW-A1IW-01 COSM1474060 c.932C>G p.S311* Substitution - Nonsense 1:51444911-51444911 - HCA46 COSM4629333 c.347C>G p.S116C Substitution - Missense 1:51465289-51465289 - TCGA-ER-A19P-06 COSM3490621 c.2631G>C p.Q877H Substitution - Missense 1:51356760-51356760 - LUAD_E00623 COSM354129 c.1472C>A p.S491* Substitution - Nonsense 1:51408136-51408136 - TCGA-AX-A0J0-01 COSM910536 c.2282C>T p.S761L Substitution - Missense 1:51363943-51363943 - HCT15 COSM2192429 c.1286T>C p.L429P Substitution - Missense 1:51408322-51408322 - RK135_C01 COSM3741301 c.625T>C p.L209L Substitution - coding silent 1:51448072-51448072 - 19 COSM5745639 c.2278A>G p.T760A Substitution - Missense 1:51363947-51363947 - ESCC_BICR_062T COSM5444427 c.2522G>C p.S841T Substitution - Missense 1:51361193-51361193 - STC252 COSM5053567 c.1994C>A p.P665H Substitution - Missense 1:51399090-51399090 - TCGA-AZ-4315-01 COSM1343288 c.987C>A p.F329L Substitution - Missense 1:51440400-51440400 - RMS88_ COSM3735975 c.2466A>G p.I822M Substitution - Missense 1:51361249-51361249 - ESO-683 COSM1251400 c.1652C>T p.S551F Substitution - Missense 1:51405930-51405930 - TCGA-OL-A66H-01 COSM3805517 c.967T>C p.S323P Substitution - Missense 1:51440420-51440420 - K347 COSM249510 c.2204A>G p.N735S Substitution - Missense 1:51364021-51364021 - B86 COSM1748496 c.902A>T p.H301L Substitution - Missense 1:51444941-51444941 - YUKAT COSM5381192 c.2218C>T p.R740C Substitution - Missense 1:51364007-51364007 - TCGA-66-2744-01 COSM681833 c.1666C>A p.Q556K Substitution - Missense 1:51405916-51405916 - RMS66_ COSM3735975 c.2466A>G p.I822M Substitution - Missense 1:51361249-51361249 - SNUH_G45_S1 COSM146508 c.2534A>G p.N845S Substitution - Missense 1:51361181-51361181 - B101 COSM1748495 c.1204G>A p.D402N Substitution - Missense 1:51409606-51409606 - P9 COSM249395 c.2120C>T p.A707V Substitution - Missense 1:51366029-51366029 - AOCS-120-3-6 COSM3944166 c.1473+4A>T p.? Unknown 1:51408131-51408131 - ccRCC-78 COSM1661700 c.2150A>G p.N717S Substitution - Missense 1:51365999-51365999 - 327 COSM3721656 c.2628G>T p.Q876H Substitution - Missense 1:51356763-51356763 - TCGA-AX-A0J0-01 COSM910533 c.2387C>A p.S796Y Substitution - Missense 1:51361328-51361328 - PT55 COSM5941499 c.2360-3C>T p.? Unknown 1:51361358-51361358 - TCGA-CA-6717-01 COSM1343289 c.466C>T p.L156F Substitution - Missense 1:51463708-51463708 - RH30SJ_ COSM3735975 c.2466A>G p.I822M Substitution - Missense 1:51361249-51361249 - HT115 COSM2192439 c.219C>A p.F73L Substitution - Missense 1:51468563-51468563 - LUAD-B01970 COSM355928 c.264A>G p.E88E Substitution - coding silent 1:51468518-51468518 - YURTHE COSM1687658 c.1513C>T p.H505Y Substitution - Missense 1:51406069-51406069 - 07-058 COSM3735975 c.2466A>G p.I822M Substitution - Missense 1:51361249-51361249 - SNU-175 COSM2192411 c.2522G>A p.S841N Substitution - Missense 1:51361193-51361193 - OSCC-GB_00070111 COSM3711647 c.1706C>T p.S569F Substitution - Missense 1:51403504-51403504 - HCC153T COSM5823208 c.1500A>T p.K500N Substitution - Missense 1:51406082-51406082 - RMS111_ COSM3735975 c.2466A>G p.I822M Substitution - Missense 1:51361249-51361249 - 112539 COSM94221 c.1865C>G p.S622C Substitution - Missense 1:51402452-51402452 - C0015T COSM4165237 c.2574G>T p.W858C Substitution - Missense 1:51356817-51356817 - TCGA-CM-5861-01 COSM1343287 c.1260T>G p.A420A Substitution - coding silent 1:51409550-51409550 - CHEWS017 COSM4577426 c.1564G>A p.G522R Substitution - Missense 1:51406018-51406018 - K140 COSM249558 c.23C>G p.S8C Substitution - Missense 1:51519209-51519209 - ccRCC-85 COSM1659934 c.138A>T p.S46S Substitution - coding silent 1:51472886-51472886 - pfg181T COSM4755174 c.2530G>T p.A844S Substitution - Missense 1:51361185-51361185 - TCGA-AA-A010-01 COSM280839 c.1047G>T p.K349N Substitution - Missense 1:51421852-51421852 - P9 COSM249510 c.2204A>G p.N735S Substitution - Missense 1:51364021-51364021 - PD11376a COSM5773095 c.795A>G p.I265M Substitution - Missense 1:51446962-51446962 - TCGA-B2-5633-01 COSM464724 c.1041-4C>G p.? Unknown 1:51421862-51421862 - TCGA-33-4538-01 COSM681831 c.66C>G p.Y22* Substitution - Nonsense 1:51481282-51481282 - K347 COSM249395 c.2120C>T p.A707V Substitution - Missense 1:51366029-51366029 - 1N56-VS-1T56 COSM4977135 c.877T>C p.L293L Substitution - coding silent 1:51444966-51444966 - T3174 COSM4681447 c.903C>T p.H301H Substitution - coding silent 1:51444940-51444940 - RK254_C01 COSM4945633 c.691A>G p.I231V Substitution - Missense 1:51447066-51447066 - TCGA-AM-5820-01 COSM3751271 c.1829G>C p.G610A Substitution - Missense 1:51402488-51402488 - tumor_4110378 COSM5946452 c.309+9T>C p.? Unknown 1:51468464-51468464 - 2492730 COSM5728632 c.2369C>T p.S790F Substitution - Missense 1:51361346-51361346 - PTC-10C COSM3735975 c.2466A>G p.I822M Substitution - Missense 1:51361249-51361249 - TCGA-C5-A7UE-01 COSM4856557 c.1120C>G p.Q374E Substitution - Missense 1:51409690-51409690 - RMS77_ COSM3735975 c.2466A>G p.I822M Substitution - Missense 1:51361249-51361249 - TCGA-UB-A7MB-01 COSM4931477 c.2032A>G p.N678D Substitution - Missense 1:51399052-51399052 - 585208 COSM325265 c.1711G>T p.V571L Substitution - Missense 1:51403499-51403499 - RMS10_ COSM3735975 c.2466A>G p.I822M Substitution - Missense 1:51361249-51361249 - TCGA-A7-A0DA-01 COSM426422 c.742G>T p.V248F Substitution - Missense 1:51447015-51447015 - P100 COSM5008681 c.1378G>T p.E460* Substitution - Nonsense 1:51408230-51408230 - TCGA-A5-A0GA-01 COSM910545 c.74A>C p.Q25P Substitution - Missense 1:51481274-51481274 - TCGA-BR-8487-01 COSM4008727 c.165+2T>C p.? Unknown 1:51472857-51472857 - 49M COSM5590814 c.237T>G p.L79L Substitution - coding silent 1:51468545-51468545 - TCGA-CK-5913-01 COSM1343284 c.2365delA p.R789fs*14 Deletion - Frameshift 1:51361350-51361350 - RMS85_ COSM3735975 c.2466A>G p.I822M Substitution - Missense 1:51361249-51361249 - TCGA-B5-A11E-01 COSM910544 c.578A>G p.Y193C Substitution - Missense 1:51448119-51448119 - TCGA-BT-A20N-01 COSM414868 c.468C>T p.L156L Substitution - coding silent 1:51463706-51463706 - TCGA-43-2578-01 COSM681832 c.746G>T p.R249L Substitution - Missense 1:51447011-51447011 - TCGA-AG-3892-01 COSM256868 c.232C>T p.R78C Substitution - Missense 1:51468550-51468550 - PT08_1 COSM5892574 c.1871C>T p.P624L Substitution - Missense 1:51402446-51402446 - TCGA-AP-A0LM-01 COSM910538 c.2112C>T p.S704S Substitution - coding silent 1:51394388-51394388 - HCC68T COSM1602524 c.165+4G>T p.? Unknown 1:51472855-51472855 - TCGA-A5-A0G5-01 COSM910543 c.604C>G p.P202A Substitution - Missense 1:51448093-51448093 - TCGA-EA-A78R-01 COSM4852036 c.1258G>T p.A420S Substitution - Missense 1:51409552-51409552 - TCGA-BT-A20N-01 COSM414867 c.219C>G p.F73L Substitution - Missense 1:51468563-51468563 - RMS110_ COSM3735975 c.2466A>G p.I822M Substitution - Missense 1:51361249-51361249 - 400 COSM4429385 c.1532G>T p.W511L Substitution - Missense 1:51406050-51406050 - TCGA-EI-6917-01 COSM3419295 c.61A>C p.K21Q Substitution - Missense 1:51481287-51481287 - 035T COSM1728622 c.1954C>G p.P652A Substitution - Missense 1:51399130-51399130 - PD24212a COSM5781088 c.2152G>T p.E718* Substitution - Nonsense 1:51365997-51365997 - 137-03-3TD COSM5417047 c.1276-1G>C p.? Unknown 1:51408333-51408333 - CHC892T COSM4798452 c.2631G>A p.Q877Q Substitution - coding silent 1:51356760-51356760 -

Mutation - CGAP UNIGENE CYTOBAND OMIM SNP Hs.83722 1p32 600051 2469752|CGAP|BC054006|G/T|coding|Asp63Tyr|196|Candidate; 2469753|CGAP|BC054006|G/T|coding|Arg33Met|107|Candidate

Mutation - IntOGen Mutated from(ref) Mutated to(alt) Consequence Type AA Mutation CDS Mutation Chr Pos Cancer A C Missense p.F74V c.220T>G 1 51934234 CM A G SpliceDonorSNV . c.2544+2T>C 1 51826841 PRAD A G Synonymous p.D375D c.1125T>C 1 51875357 ESCA A T 3-UTRSNV . c.2688+1705T>A 1 51820670 MB C A Missense p.A770S c.2308G>T 1 51829589 LUSC C A Missense p.G545C c.1633G>T 1 51871621 LUAD C A Missense p.G644V c.1931G>T 1 51864825 BRCA C A Missense p.R249L c.746G>T 1 51912683 LUSC C A Missense p.V248F c.742G>T 1 51912687 BRCA C A Missense p.V571L c.1711G>T 1 51869171 SCLC C G Missense p.L191F c.573G>C 1 51913796 SCLC C G Missense p.Q869H c.2607G>C 1 51822456 HNSC C G Missense p.Q877H c.2631G>C 1 51822432 CM C G SpliceAcceptorSNV . c.1276-1G>C 1 51874005 CLL C T 3-UTRSNV . c.2688+108G>A 1 51822267 CM C T Missense p.A560T c.1678G>A 1 51869204 CM C T Synonymous p.S438S c.1314G>A 1 51873966 UCEC G A IntronicSNV . c.1040+36C>T 1 51905983 CLL G A Missense p.L303F c.907C>T 1 51910608 CM G A Missense p.S551F c.1652C>T 1 51871602 ESCA G A Missense p.S744L c.2231C>T 1 51829666 CM G A Synonymous p.L156L c.468C>T 1 51929378 BLCA G C Missense p.F73L c.219C>G 1 51934235 BLCA G C Missense p.I426M c.1278C>G 1 51874002 BRCA G C Missense p.P202A c.604C>G 1 51913765 UCEC G C Missense p.Q459E c.1375C>G 1 51873905 HNSC G C Nonsense p.S311* c.932C>G 1 51910583 BRCA G C Nonsense p.Y22* c.66C>G 1 51946954 LUSC G C Synonymous p.V733V c.2199C>G 1 51829698 LUAD G T Missense p.Q556K c.1666C>A 1 51871588 LUSC G T Nonsense p.S650* c.1949C>A 1 51864807 CM G T Synonymous p.L412L c.1236C>A 1 51875246 LUAD T A 3-UTRSNV . c.2688+1812A>T 1 51820563 HC T A Missense p.T217S c.649A>T 1 51913720 BLCA T C 3-UTRSNV . c.2688+1334A>G 1 51821041 HC T C IntronicSNV . c.1040+893A>G 1 51905126 CLL T C Missense p.E576G c.1727A>G 1 51869155 GBM T C Synonymous p.K237K c.711A>G 1 51912718 BLCA T - Frameshift p.V585Ffs*19 c.1752delA 1 51869130 RCCC T G Missense p.Q25P c.74A>C 1 51946946 UCEC