Mutation - TCGA Type Chromosome Start Position End Position Strand Variant Classification Variant Type Reference Allele Tumor_seq Allele 1 Tumor_seq Allele 2 Tumor Sample Barcode Matched Norm Sample Barcode Genome Change cDNA Change Codon Change Protein Change ACC 21 30701923 30701925 + In_Frame_Del DEL GAA GAA - TCGA-OR-A5LB-01A-11D-A29I-10 TCGA-OR-A5LB-10A-01D-A29L-10 g.chr21:30701923_30701925delGAA c.1685_1687delGAA c.(1684-1689)cgaaga>cga p.562_563RR>R BLCA 21 30699117 30699117 + Silent SNP T T G TCGA-BT-A20W-01A-21D-A14W-08 TCGA-BT-A20W-11A-11D-A14W-08 g.chr21:30699117T>G c.972T>G c.(970-972)tcT>tcG p.S324S BLCA 21 30701862 30701862 + Missense_Mutation SNP C C G TCGA-CF-A1HS-01A-11D-A13W-08 TCGA-CF-A1HS-10A-01D-A13W-08 g.chr21:30701862C>G c.1624C>G c.(1624-1626)Cag>Gag p.Q542E BLCA 21 30714868 30714868 + Missense_Mutation SNP C C T TCGA-UY-A9PF-01A-11D-A38G-08 TCGA-UY-A9PF-10A-01D-A38J-08 g.chr21:30714868C>T c.1925C>T c.(1924-1926)tCa>tTa p.S642L BRCA 21 30699316 30699316 + Nonsense_Mutation SNP C C T TCGA-BH-A0HO-01A-11W-A050-09 TCGA-BH-A0HO-10A-01W-A055-09 g.chr21:30699316C>T c.1171C>T c.(1171-1173)Cga>Tga p.R391* BRCA 21 30699365 30699365 + Missense_Mutation SNP G G A TCGA-AN-A0AK-01A-21W-A019-09 TCGA-AN-A0AK-10A-01W-A021-09 g.chr21:30699365G>A c.1220G>A c.(1219-1221)aGc>aAc p.S407N BRCA 21 30699407 30699407 + Missense_Mutation SNP C C T TCGA-AR-A1AQ-01A-11D-A12Q-09 TCGA-AR-A1AQ-10A-01D-A12Q-09 g.chr21:30699407C>T c.1262C>T c.(1261-1263)gCc>gTc p.A421V CESC 21 30698588 30698588 + Missense_Mutation SNP C C T TCGA-LP-A4AX-01A-12D-A243-09 TCGA-LP-A4AX-10A-01D-A243-09 g.chr21:30698588C>T c.443C>T c.(442-444)tCa>tTa p.S148L CESC 21 30699110 30699110 + Missense_Mutation SNP C C G TCGA-EK-A2H0-01A-11D-A17W-09 TCGA-EK-A2H0-10A-01D-A17W-09 g.chr21:30699110C>G c.965C>G c.(964-966)tCt>tGt p.S322C CESC 21 30699443 30699443 + Missense_Mutation SNP C C G TCGA-FU-A40J-01A-11D-A243-09 TCGA-FU-A40J-10A-01D-A243-09 g.chr21:30699443C>G c.1298C>G c.(1297-1299)tCt>tGt p.S433C CESC 21 30701994 30701994 + Missense_Mutation SNP G G A TCGA-EK-A2PI-01A-11D-A18J-09 TCGA-EK-A2PI-10A-01D-A18J-09 g.chr21:30701994G>A c.1756G>A c.(1756-1758)Gaa>Aaa p.E586K CESC 21 30714831 30714831 + Missense_Mutation SNP C C G TCGA-LP-A4AV-01A-11D-A243-09 TCGA-LP-A4AV-10A-01D-A243-09 g.chr21:30714831C>G c.1888C>G c.(1888-1890)Ctg>Gtg p.L630V CESC 21 30714889 30714889 + Missense_Mutation SNP C C T TCGA-DG-A2KH-01A-21D-A22X-09 TCGA-DG-A2KH-10A-01D-A22X-09 g.chr21:30714889C>T c.1946C>T c.(1945-1947)tCa>tTa p.S649L COAD 21 30698571 30698571 + Frame_Shift_Del DEL A A - TCGA-AA-3947-01A-01W-0995-10 TCGA-AA-3947-10A-01W-0995-10 g.chr21:30698571delA c.426delA c.(424-426)agafs p.R142fs COAD 21 30698587 30698587 + Missense_Mutation SNP T T C TCGA-AA-3950-01A-02W-0995-10 TCGA-AA-3950-10A-01W-0995-10 g.chr21:30698587T>C c.442T>C c.(442-444)Tca>Cca p.S148P COAD 21 30698685 30698685 + Missense_Mutation SNP G G T TCGA-AA-A010-01A-01W-A00E-09 TCGA-AA-A010-10A-01W-A00E-09 g.chr21:30698685G>T c.540G>T c.(538-540)caG>caT p.Q180H COAD 21 30698864 30698864 + Missense_Mutation SNP G G A TCGA-CA-6717-01A-11D-1835-10 TCGA-CA-6717-10A-01D-1835-10 g.chr21:30698864G>A c.719G>A c.(718-720)cGt>cAt p.R240H COAD 21 30698939 30698939 + Missense_Mutation SNP G G A TCGA-AA-3977-01A-01W-0995-10 TCGA-AA-3977-10A-01W-0999-10 g.chr21:30698939G>A c.794G>A c.(793-795)gGa>gAa p.G265E COAD 21 30698954 30698954 + Missense_Mutation SNP G G A TCGA-D5-6928-01A-11D-1924-10 TCGA-D5-6928-10A-01D-1924-10 g.chr21:30698954G>A c.809G>A c.(808-810)tGt>tAt p.C270Y COAD 21 30699008 30699008 + Missense_Mutation SNP C C A TCGA-AZ-6601-01A-11D-1771-10 TCGA-AZ-6601-11A-01D-1771-10 g.chr21:30699008C>A c.863C>A c.(862-864)cCt>cAt p.P288H COAD 21 30699435 30699435 + Missense_Mutation SNP G G T TCGA-CA-6717-01A-11D-1835-10 TCGA-CA-6717-10A-01D-1835-10 g.chr21:30699435G>T c.1290G>T c.(1288-1290)caG>caT p.Q430H COAD 21 30699652 30699652 + Missense_Mutation SNP G G A TCGA-AA-3984-01A-02W-0995-10 TCGA-AA-3984-10A-01W-0999-10 g.chr21:30699652G>A c.1507G>A c.(1507-1509)Gac>Aac p.D503N COAD 21 30699668 30699668 + Missense_Mutation SNP C C T TCGA-AA-3982-01A-02W-0995-10 TCGA-AA-3982-10A-01W-0999-10 g.chr21:30699668C>T c.1523C>T c.(1522-1524)aCc>aTc p.T508I COAD 21 30701851 30701851 + Missense_Mutation SNP G G A TCGA-AA-3984-01A-02W-0995-10 TCGA-AA-3984-10A-01W-0999-10 g.chr21:30701851G>A c.1613G>A c.(1612-1614)cGa>cAa p.R538Q COAD 21 30715063 30715063 + Missense_Mutation SNP A A G TCGA-CM-5864-01A-01D-1650-10 TCGA-CM-5864-10A-01D-1650-10 g.chr21:30715063A>G c.2120A>G c.(2119-2121)gAg>gGg p.E707G COADREAD 21 30698571 30698571 + Frame_Shift_Del DEL A A - TCGA-AA-3947-01A-01W-0995-10 TCGA-AA-3947-10A-01W-0995-10 g.chr21:30698571delA c.426delA c.(424-426)agafs p.R142fs COADREAD 21 30698587 30698587 + Missense_Mutation SNP T T C TCGA-AA-3950-01A-02W-0995-10 TCGA-AA-3950-10A-01W-0995-10 g.chr21:30698587T>C c.442T>C c.(442-444)Tca>Cca p.S148P COADREAD 21 30698685 30698685 + Missense_Mutation SNP G G T TCGA-AA-A010-01A-01W-A00E-09 TCGA-AA-A010-10A-01W-A00E-09 g.chr21:30698685G>T c.540G>T c.(538-540)caG>caT p.Q180H COADREAD 21 30698864 30698864 + Missense_Mutation SNP G G A TCGA-CA-6717-01A-11D-1835-10 TCGA-CA-6717-10A-01D-1835-10 g.chr21:30698864G>A c.719G>A c.(718-720)cGt>cAt p.R240H COADREAD 21 30698939 30698939 + Missense_Mutation SNP G G A TCGA-AA-3977-01A-01W-0995-10 TCGA-AA-3977-10A-01W-0999-10 g.chr21:30698939G>A c.794G>A c.(793-795)gGa>gAa p.G265E COADREAD 21 30698954 30698954 + Missense_Mutation SNP G G A TCGA-D5-6928-01A-11D-1924-10 TCGA-D5-6928-10A-01D-1924-10 g.chr21:30698954G>A c.809G>A c.(808-810)tGt>tAt p.C270Y COADREAD 21 30698986 30698986 + Missense_Mutation SNP G G A TCGA-AG-A002-01A-01W-A00K-09 TCGA-AG-A002-10A-01W-A00K-09 g.chr21:30698986G>A c.841G>A c.(841-843)Gaa>Aaa p.E281K COADREAD 21 30699008 30699008 + Missense_Mutation SNP C C A TCGA-AZ-6601-01A-11D-1771-10 TCGA-AZ-6601-11A-01D-1771-10 g.chr21:30699008C>A c.863C>A c.(862-864)cCt>cAt p.P288H COADREAD 21 30699435 30699435 + Missense_Mutation SNP G G T TCGA-CA-6717-01A-11D-1835-10 TCGA-CA-6717-10A-01D-1835-10 g.chr21:30699435G>T c.1290G>T c.(1288-1290)caG>caT p.Q430H COADREAD 21 30699652 30699652 + Missense_Mutation SNP G G A TCGA-AA-3984-01A-02W-0995-10 TCGA-AA-3984-10A-01W-0999-10 g.chr21:30699652G>A c.1507G>A c.(1507-1509)Gac>Aac p.D503N COADREAD 21 30699668 30699668 + Missense_Mutation SNP C C T TCGA-AA-3982-01A-02W-0995-10 TCGA-AA-3982-10A-01W-0999-10 g.chr21:30699668C>T c.1523C>T c.(1522-1524)aCc>aTc p.T508I COADREAD 21 30701851 30701851 + Missense_Mutation SNP G G A TCGA-AA-3984-01A-02W-0995-10 TCGA-AA-3984-10A-01W-0999-10 g.chr21:30701851G>A c.1613G>A c.(1612-1614)cGa>cAa p.R538Q COADREAD 21 30701851 30701851 + Missense_Mutation SNP G G A TCGA-AG-A002-01A-01W-A00K-09 TCGA-AG-A002-10A-01W-A00K-09 g.chr21:30701851G>A c.1613G>A c.(1612-1614)cGa>cAa p.R538Q COADREAD 21 30715063 30715063 + Missense_Mutation SNP A A G TCGA-CM-5864-01A-01D-1650-10 TCGA-CM-5864-10A-01D-1650-10 g.chr21:30715063A>G c.2120A>G c.(2119-2121)gAg>gGg p.E707G DLBC 21 30699557 30699557 + Missense_Mutation SNP G G C TCGA-G8-6907-01A-11D-2210-10 TCGA-G8-6907-14A-01D-2210-10 g.chr21:30699557G>C c.1412G>C c.(1411-1413)gGc>gCc p.G471A ESCA 21 30693632 30693632 + Missense_Mutation SNP T T C TCGA-LN-A7HY-01A-12D-A351-09 TCGA-LN-A7HY-10A-01D-A351-09 g.chr21:30693632T>C c.31T>C c.(31-33)Tat>Cat p.Y11H ESCA 21 30698924 30698924 + Frame_Shift_Del DEL A A - TCGA-L5-A8NW-01A-11D-A37C-09 TCGA-L5-A8NW-11A-11D-A37F-09 g.chr21:30698924delA c.779delA c.(778-780)gaafs p.E260fs ESCA 21 30714989 30714989 + Silent SNP C C T TCGA-L5-A8NN-01A-11D-A37C-09 TCGA-L5-A8NN-11A-11D-A37F-09 g.chr21:30714989C>T c.2046C>T c.(2044-2046)ccC>ccT p.P682P ESCA 21 30715103 30715103 + Silent SNP G G T TCGA-RE-A7BO-01A-11D-A33E-09 TCGA-RE-A7BO-10A-01D-A33H-09 g.chr21:30715103G>T c.2160G>T c.(2158-2160)ggG>ggT p.G720G GBM 21 30693606 30693606 + Missense_Mutation SNP C C G TCGA-16-1048-01B-01D-1353-08 TCGA-16-1048-10A-01D-1353-08 g.chr21:30693606C>G c.5C>G c.(4-6)tCt>tGt p.S2C GBMLGG 21 30693606 30693606 + Missense_Mutation SNP C C G TCGA-16-1048-01B-01D-1353-08 TCGA-16-1048-10A-01D-1353-08 g.chr21:30693606C>G c.5C>G c.(4-6)tCt>tGt p.S2C GBMLGG 21 30699512 30699513 + Frame_Shift_Del DEL TA TA - TCGA-DU-8158-01A-11D-2253-08 TCGA-DU-8158-10A-01D-2253-08 g.chr21:30699512_30699513delTA c.1367_1368delTA c.(1366-1368)ttafs p.L456fs GBMLGG 21 30701893 30701893 + Missense_Mutation SNP C C A TCGA-DU-6392-01A-11D-1705-08 TCGA-DU-6392-10A-01D-1705-08 g.chr21:30701893C>A c.1655C>A c.(1654-1656)cCa>cAa p.P552Q HNSC 21 30693704 30693704 + Missense_Mutation SNP G G T TCGA-CV-5441-01A-01D-1512-08 TCGA-CV-5441-11A-01D-1512-08 g.chr21:30693704G>T c.103G>T c.(103-105)Gat>Tat p.D35Y HNSC 21 30693736 30693736 + Silent SNP C C T TCGA-CV-7446-01A-11D-2229-08 TCGA-CV-7446-10A-01D-2229-08 g.chr21:30693736C>T c.135C>T c.(133-135)ttC>ttT p.F45F HNSC 21 30693761 30693761 + Missense_Mutation SNP G G A TCGA-CN-5373-01A-01D-1434-08 TCGA-CN-5373-10A-01D-1434-08 g.chr21:30693761G>A c.160G>A c.(160-162)Gca>Aca p.A54T HNSC 21 30699037 30699037 + Nonsense_Mutation SNP C C T TCGA-CV-A6K2-01A-11D-A31L-08 TCGA-CV-A6K2-10A-01D-A31J-08 g.chr21:30699037C>T c.892C>T c.(892-894)Cag>Tag p.Q298* HNSC 21 30699670 30699670 + Missense_Mutation SNP G G A TCGA-CQ-A4CG-01A-11D-A25Y-08 TCGA-CQ-A4CG-10A-01D-A25Y-08 g.chr21:30699670G>A c.1525G>A c.(1525-1527)Gaa>Aaa p.E509K KIPAN 21 30693729 30693729 + Missense_Mutation SNP A A G TCGA-BP-4989-01A-01D-1462-08 TCGA-BP-4989-11A-01D-1462-08 g.chr21:30693729A>G c.128A>G c.(127-129)cAg>cGg p.Q43R KIPAN 21 30698866 30698866 + Frame_Shift_Del DEL A A - TCGA-BQ-7046-01A-11D-1961-08 TCGA-BQ-7046-11A-01D-1961-08 g.chr21:30698866delA c.721delA c.(721-723)actfs p.T241fs KIPAN 21 30699093 30699114 + Frame_Shift_Del DEL CCCTCATGGACTTTATTCTTTG CCCTCATGGACTTTATTCTTTG - TCGA-2Z-A9JE-01A-11D-A42J-10 TCGA-2Z-A9JE-10A-01D-A42M-10 g.chr21:30699093_30699114delCCCTCATGGACTTTATTCTTTG c.948_969delCCCTCATGGACTTTATTCTTTG c.(946-969)gaccctcatggactttattctttgfs p.DPHGLYSL316fs KIPAN 21 30714928 30714928 + Missense_Mutation SNP G G T TCGA-A3-3326-01A-01D-0966-08 TCGA-A3-3326-11A-01D-0966-08 g.chr21:30714928G>T c.1985G>T c.(1984-1986)gGt>gTt p.G662V KIPAN 21 30714963 30714963 + Missense_Mutation SNP G G T TCGA-B0-4843-01A-01D-1361-10 TCGA-B0-4843-11A-01D-1361-10 g.chr21:30714963G>T c.2020G>T c.(2020-2022)Gac>Tac p.D674Y KIPAN 21 30715024 30715024 + Missense_Mutation SNP G G A TCGA-SX-A71S-01A-11D-A33Q-10 TCGA-SX-A71S-10A-01D-A33Q-10 g.chr21:30715024G>A c.2081G>A c.(2080-2082)cGa>cAa p.R694Q KIRC 21 30693729 30693729 + Missense_Mutation SNP A A G TCGA-BP-4989-01A-01D-1462-08 TCGA-BP-4989-11A-01D-1462-08 g.chr21:30693729A>G c.128A>G c.(127-129)cAg>cGg p.Q43R KIRC 21 30714928 30714928 + Missense_Mutation SNP G G T TCGA-A3-3326-01A-01D-0966-08 TCGA-A3-3326-11A-01D-0966-08 g.chr21:30714928G>T c.1985G>T c.(1984-1986)gGt>gTt p.G662V KIRC 21 30714963 30714963 + Missense_Mutation SNP G G T TCGA-B0-4843-01A-01D-1361-10 TCGA-B0-4843-11A-01D-1361-10 g.chr21:30714963G>T c.2020G>T c.(2020-2022)Gac>Tac p.D674Y KIRP 21 30698866 30698866 + Frame_Shift_Del DEL A A - TCGA-BQ-7046-01A-11D-1961-08 TCGA-BQ-7046-11A-01D-1961-08 g.chr21:30698866delA c.721delA c.(721-723)actfs p.T241fs KIRP 21 30699093 30699114 + Frame_Shift_Del DEL CCCTCATGGACTTTATTCTTTG CCCTCATGGACTTTATTCTTTG - TCGA-2Z-A9JE-01A-11D-A42J-10 TCGA-2Z-A9JE-10A-01D-A42M-10 g.chr21:30699093_30699114delCCCTCATGGACTTTATTCTTTG c.948_969delCCCTCATGGACTTTATTCTTTG c.(946-969)gaccctcatggactttattctttgfs p.DPHGLYSL316fs KIRP 21 30715024 30715024 + Missense_Mutation SNP G G A TCGA-SX-A71S-01A-11D-A33Q-10 TCGA-SX-A71S-10A-01D-A33Q-10 g.chr21:30715024G>A c.2081G>A c.(2080-2082)cGa>cAa p.R694Q LAML 21 30714966 30714966 + Silent SNP C C A TCGA-AB-2857-03B-01W-0728-08 TCGA-AB-2857-11B-01W-0729-08 g.chr21:30714966C>A c.2023C>A c.(2023-2025)Cgg>Agg p.R675R LGG 21 30699512 30699513 + Frame_Shift_Del DEL TA TA - TCGA-DU-8158-01A-11D-2253-08 TCGA-DU-8158-10A-01D-2253-08 g.chr21:30699512_30699513delTA c.1367_1368delTA c.(1366-1368)ttafs p.L456fs LGG 21 30701893 30701893 + Missense_Mutation SNP C C A TCGA-DU-6392-01A-11D-1705-08 TCGA-DU-6392-10A-01D-1705-08 g.chr21:30701893C>A c.1655C>A c.(1654-1656)cCa>cAa p.P552Q LIHC 21 30698823 30698823 + Silent SNP A A G TCGA-DD-AADU-01A-11D-A40R-10 TCGA-DD-AADU-10A-01D-A40U-10 g.chr21:30698823A>G c.678A>G c.(676-678)aaA>aaG p.K226K LIHC 21 30699058 30699058 + Missense_Mutation SNP G G A TCGA-DD-A11A-01A-11D-A12Z-10 TCGA-DD-A11A-10A-01D-A12Z-10 g.chr21:30699058G>A c.913G>A c.(913-915)Gaa>Aaa p.E305K LIHC 21 30699119 30699119 + Frame_Shift_Del DEL T T - TCGA-G3-AAV3-01A-11D-A36X-10 TCGA-G3-AAV3-10A-01D-A370-10 g.chr21:30699119delT c.974delT c.(973-975)cttfs p.L326fs LIHC 21 30701858 30701858 + Frame_Shift_Del DEL T T - TCGA-G3-A3CJ-01A-11D-A20W-10 TCGA-G3-A3CJ-10A-01D-A20W-10 g.chr21:30701858delT c.1620delT c.(1618-1620)gatfs p.D540fs LIHC 21 30701998 30701998 + Nonsense_Mutation SNP C C A TCGA-5R-AA1C-01A-11D-A40R-10 TCGA-5R-AA1C-10A-01D-A40U-10 g.chr21:30701998C>A c.1760C>A c.(1759-1761)tCa>tAa p.S587* LUAD 21 30698503 30698503 + Nonsense_Mutation SNP G G T TCGA-73-4668-01A-01D-1265-08 TCGA-73-4668-11A-01D-1265-08 g.chr21:30698503G>T c.358G>T c.(358-360)Gaa>Taa p.E120* LUAD 21 30698571 30698571 + Frame_Shift_Del DEL A A - TCGA-86-8672-01A-21D-2393-08 TCGA-86-8672-10A-01D-2393-08 g.chr21:30698571delA c.426delA c.(424-426)agafs p.R142fs LUAD 21 30699067 30699067 + Frame_Shift_Del DEL C C - TCGA-97-7937-01A-11D-2167-08 TCGA-97-7937-10A-01D-2167-08 g.chr21:30699067delC c.922delC c.(922-924)cctfs p.P308fs LUAD 21 30699100 30699100 + Nonsense_Mutation SNP G G T TCGA-78-7166-01A-12D-2063-08 TCGA-78-7166-11A-01D-2063-08 g.chr21:30699100G>T c.955G>T c.(955-957)Gga>Tga p.G319* LUAD 21 30699198 30699198 + Missense_Mutation SNP G G T TCGA-17-Z062-01A-01W-0747-08 TCGA-17-Z062-11A-01W-0747-08 g.chr21:30699198G>T c.1053G>T c.(1051-1053)ttG>ttT p.L351F LUAD 21 30699390 30699390 + Missense_Mutation SNP G G T TCGA-05-4427-01A-21D-1855-08 TCGA-05-4427-10A-01D-1855-08 g.chr21:30699390G>T c.1245G>T c.(1243-1245)caG>caT p.Q415H LUAD 21 30699562 30699562 + Missense_Mutation SNP T T A TCGA-55-8089-01A-11D-2238-08 TCGA-55-8089-10A-01D-2238-08 g.chr21:30699562T>A c.1417T>A c.(1417-1419)Tca>Aca p.S473T LUAD 21 30701833 30701833 + Missense_Mutation SNP G G A TCGA-86-A4JF-01A-11D-A24P-08 TCGA-86-A4JF-10A-01D-A24P-08 g.chr21:30701833G>A c.1595G>A c.(1594-1596)cGg>cAg p.R532Q LUAD 21 30701962 30701962 + Missense_Mutation SNP G G A TCGA-97-8547-01A-11D-2393-08 TCGA-97-8547-10A-01D-2393-08 g.chr21:30701962G>A c.1724G>A c.(1723-1725)cGc>cAc p.R575H LUAD 21 30714991 30714991 + Missense_Mutation SNP G G T TCGA-73-4666-01A-01D-1265-08 TCGA-73-4666-11A-01D-1265-08 g.chr21:30714991G>T c.2048G>T c.(2047-2049)tGt>tTt p.C683F LUAD 21 30715097 30715097 + Silent SNP T T C TCGA-91-A4BC-01A-11D-A24D-08 TCGA-91-A4BC-10A-01D-A24F-08 g.chr21:30715097T>C c.2154T>C c.(2152-2154)agT>agC p.S718S LUSC 21 30698598 30698598 + Missense_Mutation SNP G G T TCGA-21-1077-01A-01D-1521-08 TCGA-21-1077-11A-01D-1521-08 g.chr21:30698598G>T c.453G>T c.(451-453)caG>caT p.Q151H OV 21 30715062 30715062 + Nonsense_Mutation SNP G G T TCGA-24-1555-01A-01W-0552-10 TCGA-24-1555-10A-01W-0552-10 g.chr21:30715062G>T c.2119G>T c.(2119-2121)Gag>Tag p.E707* PAAD 21 30693720 30693720 + Missense_Mutation SNP T T C TCGA-3E-AAAZ-01A-11D-A38G-08 TCGA-3E-AAAZ-10A-01D-A38J-08 g.chr21:30693720T>C c.119T>C c.(118-120)gTg>gCg p.V40A PAAD 21 30698591 30698591 + Missense_Mutation SNP A A G TCGA-IB-7651-01A-11D-2154-08 TCGA-IB-7651-10A-01D-2154-08 g.chr21:30698591A>G c.446A>G c.(445-447)cAc>cGc p.H149R PAAD 21 30699086 30699086 + Missense_Mutation SNP C C T TCGA-IB-AAUU-01A-11D-A377-08 TCGA-IB-AAUU-10A-01D-A37A-08 g.chr21:30699086C>T c.941C>T c.(940-942)tCc>tTc p.S314F READ 21 30698986 30698986 + Missense_Mutation SNP G G A TCGA-AG-A002-01A-01W-A00K-09 TCGA-AG-A002-10A-01W-A00K-09 g.chr21:30698986G>A c.841G>A c.(841-843)Gaa>Aaa p.E281K READ 21 30701851 30701851 + Missense_Mutation SNP G G A TCGA-AG-A002-01A-01W-A00K-09 TCGA-AG-A002-10A-01W-A00K-09 g.chr21:30701851G>A c.1613G>A c.(1612-1614)cGa>cAa p.R538Q SKCM 21 30693685 30693685 + Silent SNP G G A TCGA-EE-A2GI-06A-11D-A196-08 TCGA-EE-A2GI-10A-01D-A198-08 g.chr21:30693685G>A c.84G>A c.(82-84)cgG>cgA p.R28R SKCM 21 30693736 30693736 + Silent SNP C C T TCGA-EE-A3AE-06A-11D-A196-08 TCGA-EE-A3AE-10A-01D-A198-08 g.chr21:30693736C>T c.135C>T c.(133-135)ttC>ttT p.F45F SKCM 21 30693751 30693751 + Silent SNP C C T TCGA-EE-A2GU-06A-11D-A196-08 TCGA-EE-A2GU-10A-01D-A198-08 g.chr21:30693751C>T c.150C>T c.(148-150)tcC>tcT p.S50S SKCM 21 30693778 30693778 + Silent SNP C C T TCGA-EE-A3J4-06A-11D-A20D-08 TCGA-EE-A3J4-10A-01D-A20D-08 g.chr21:30693778C>T c.177C>T c.(175-177)ttC>ttT p.F59F SKCM 21 30693789 30693789 + Missense_Mutation SNP T T A TCGA-D3-A3MU-06A-11D-A21A-08 TCGA-D3-A3MU-10A-01D-A21A-08 g.chr21:30693789T>A c.188T>A c.(187-189)aTc>aAc p.I63N SKCM 21 30693790 30693790 + Missense_Mutation SNP C C G TCGA-D3-A3MU-06A-11D-A21A-08 TCGA-D3-A3MU-10A-01D-A21A-08 g.chr21:30693790C>G c.189C>G c.(187-189)atC>atG p.I63M SKCM 21 30698572 30698572 + Missense_Mutation SNP A A C TCGA-EE-A182-06A-11D-A196-08 TCGA-EE-A182-10A-01D-A198-08 g.chr21:30698572A>C c.427A>C c.(427-429)Aaa>Caa p.K143Q SKCM 21 30698862 30698862 + Silent SNP C C T TCGA-EE-A2GC-06A-11D-A197-08 TCGA-EE-A2GC-10A-01D-A199-08 g.chr21:30698862C>T c.717C>T c.(715-717)gtC>gtT p.V239V SKCM 21 30698863 30698863 + Missense_Mutation SNP C C T TCGA-EE-A2GC-06A-11D-A197-08 TCGA-EE-A2GC-10A-01D-A199-08 g.chr21:30698863C>T c.718C>T c.(718-720)Cgt>Tgt p.R240C SKCM 21 30698863 30698863 + Missense_Mutation SNP C C T TCGA-EE-A2MJ-06A-11D-A197-08 TCGA-EE-A2MJ-10A-01D-A199-08 g.chr21:30698863C>T c.718C>T c.(718-720)Cgt>Tgt p.R240C SKCM 21 30714787 30714787 + Missense_Mutation SNP A A G TCGA-GF-A6C9-06A-11D-A30X-08 TCGA-GF-A6C9-10A-01D-A30X-08 g.chr21:30714787A>G c.1844A>G c.(1843-1845)cAg>cGg p.Q615R SKCM 21 30715024 30715024 + Missense_Mutation SNP G G A TCGA-EE-A3AD-06A-11D-A196-08 TCGA-EE-A3AD-10A-01D-A198-08 g.chr21:30715024G>A c.2081G>A c.(2080-2082)cGa>cAa p.R694Q

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 21 30715085 30715085 single base substitution G A intron_variant BLCA-CN 21 30715085 30715085 single base substitution G A synonymous_variant Q714Q 2142G>A BLCA-US 21 30699117 30699117 single base substitution T G downstream_gene_variant BLCA-US 21 30699117 30699117 single base substitution T G synonymous_variant S324S 972T>G BLCA-US 21 30699117 30699117 single base substitution T G upstream_gene_variant BLCA-US 21 30701862 30701862 single base substitution C G downstream_gene_variant BLCA-US 21 30701862 30701862 single base substitution C G missense_variant Q107E 319C>G BLCA-US 21 30701862 30701862 single base substitution C G missense_variant Q542E 1624C>G BLCA-US 21 30701862 30701862 single base substitution C G missense_variant Q58E 172C>G BLCA-US 21 30927614 30927614 single base substitution T C intron_variant BLCA-US 21 30934029 30934029 single base substitution C G intron_variant BLCA-US 21 30949385 30949385 single base substitution C G intron_variant BLCA-US 21 30959910 30959910 single base substitution C G intron_variant BOCA-FR 21 30730579 30730579 single base substitution T G intron_variant BOCA-FR 21 30738710 30738710 single base substitution T A intron_variant BOCA-FR 21 30821898 30821898 single base substitution G A intron_variant BOCA-FR 21 30976580 30976580 single base substitution A C intron_variant BRCA-EU 21 30562171 30562171 single base substitution C T upstream_gene_variant BRCA-EU 21 30563035 30563035 single base substitution C T upstream_gene_variant BRCA-EU 21 30563040 30563040 single base substitution C A upstream_gene_variant BRCA-EU 21 30563810 30563810 single base substitution G C upstream_gene_variant BRCA-EU 21 30564654 30564654 single base substitution G A upstream_gene_variant BRCA-EU 21 30564980 30564980 single base substitution C G upstream_gene_variant BRCA-EU 21 30566219 30566219 single base substitution C G upstream_gene_variant BRCA-EU 21 30567053 30567053 single base substitution T G intron_variant BRCA-EU 21 30567517 30567517 single base substitution C A intron_variant BRCA-EU 21 30568374 30568374 single base substitution G C intron_variant BRCA-EU 21 30568451 30568451 single base substitution G C intron_variant BRCA-EU 21 30568782 30568782 single base substitution G C intron_variant BRCA-EU 21 30569276 30569276 single base substitution G T intron_variant BRCA-EU 21 30569835 30569835 single base substitution T A intron_variant BRCA-EU 21 30570448 30570448 single base substitution C G intron_variant BRCA-EU 21 30571236 30571236 single base substitution C G intron_variant BRCA-EU 21 30571455 30571455 single base substitution G A intron_variant BRCA-EU 21 30571847 30571847 single base substitution T C intron_variant BRCA-EU 21 30572181 30572181 single base substitution A G intron_variant BRCA-EU 21 30573110 30573110 single base substitution G A intron_variant BRCA-EU 21 30573617 30573617 single base substitution C T intron_variant BRCA-EU 21 30574017 30574017 single base substitution C A intron_variant BRCA-EU 21 30574862 30574862 single base substitution T G intron_variant BRCA-EU 21 30575302 30575302 single base substitution C T intron_variant BRCA-EU 21 30577067 30577067 single base substitution T C intron_variant BRCA-EU 21 30577918 30577918 single base substitution G T intron_variant BRCA-EU 21 30579389 30579389 deletion of <=200bp A - intron_variant BRCA-EU 21 30579694 30579694 deletion of <=200bp T - intron_variant BRCA-EU 21 30579818 30579818 single base substitution T A intron_variant BRCA-EU 21 30585156 30585156 single base substitution C G intron_variant BRCA-EU 21 30585636 30585636 deletion of <=200bp A - intron_variant BRCA-EU 21 30589055 30589055 single base substitution C T intron_variant BRCA-EU 21 30590968 30590968 single base substitution C T intron_variant BRCA-EU 21 30592694 30592694 single base substitution G T intron_variant BRCA-EU 21 30594760 30594760 single base substitution C T intron_variant BRCA-EU 21 30595046 30595046 single base substitution A C intron_variant BRCA-EU 21 30596053 30596053 single base substitution C G intron_variant BRCA-EU 21 30596422 30596422 single base substitution A G intron_variant BRCA-EU 21 30600010 30600010 single base substitution C G intron_variant BRCA-EU 21 30600038 30600038 single base substitution C G intron_variant BRCA-EU 21 30601564 30601564 single base substitution A C intron_variant BRCA-EU 21 30603714 30603714 single base substitution C T intron_variant BRCA-EU 21 30605709 30605709 single base substitution C G intron_variant BRCA-EU 21 30606726 30606726 single base substitution G C intron_variant BRCA-EU 21 30608325 30608325 single base substitution G T intron_variant BRCA-EU 21 30608374 30608374 single base substitution G T intron_variant BRCA-EU 21 30609206 30609206 single base substitution T C intron_variant BRCA-EU 21 30611425 30611425 single base substitution G C intron_variant BRCA-EU 21 30611547 30611547 single base substitution C A intron_variant BRCA-EU 21 30611569 30611569 single base substitution G C intron_variant BRCA-EU 21 30612870 30612870 single base substitution C G intron_variant BRCA-EU 21 30614983 30614983 single base substitution A G intron_variant BRCA-EU 21 30616471 30616471 deletion of <=200bp A - intron_variant BRCA-EU 21 30616471 30616471 insertion of <=200bp - A intron_variant BRCA-EU 21 30616759 30616759 single base substitution A T intron_variant BRCA-EU 21 30618230 30618230 single base substitution T G intron_variant BRCA-EU 21 30618719 30618719 single base substitution C G intron_variant BRCA-EU 21 30620217 30620217 single base substitution C G intron_variant BRCA-EU 21 30620264 30620264 single base substitution C T intron_variant BRCA-EU 21 30620728 30620728 single base substitution A G intron_variant BRCA-EU 21 30620731 30620731 insertion of <=200bp - TA intron_variant BRCA-EU 21 30620743 30620743 single base substitution C T intron_variant BRCA-EU 21 30620992 30620992 single base substitution G A intron_variant BRCA-EU 21 30622127 30622127 single base substitution G A intron_variant BRCA-EU 21 30622721 30622721 single base substitution C T intron_variant BRCA-EU 21 30622968 30622968 single base substitution T C intron_variant BRCA-EU 21 30623133 30623133 single base substitution C A intron_variant BRCA-EU 21 30623484 30623484 single base substitution C T intron_variant BRCA-EU 21 30623762 30623762 single base substitution C A intron_variant BRCA-EU 21 30624506 30624506 single base substitution T C intron_variant BRCA-EU 21 30624538 30624538 single base substitution C T intron_variant BRCA-EU 21 30626371 30626371 single base substitution C A intron_variant BRCA-EU 21 30627266 30627266 single base substitution A C intron_variant BRCA-EU 21 30627436 30627436 single base substitution C G intron_variant BRCA-EU 21 30627713 30627713 single base substitution C T intron_variant BRCA-EU 21 30627872 30627872 single base substitution C T intron_variant BRCA-EU 21 30628148 30628148 single base substitution A T intron_variant BRCA-EU 21 30628321 30628321 single base substitution G A intron_variant BRCA-EU 21 30630772 30630772 single base substitution C G intron_variant BRCA-EU 21 30634532 30634532 single base substitution C G intron_variant BRCA-EU 21 30635136 30635136 single base substitution C G intron_variant BRCA-EU 21 30635150 30635150 single base substitution T C intron_variant BRCA-EU 21 30636277 30636277 single base substitution G C intron_variant BRCA-EU 21 30637010 30637010 single base substitution T G intron_variant BRCA-EU 21 30641018 30641018 single base substitution T G intron_variant BRCA-EU 21 30641207 30641207 single base substitution T C intron_variant BRCA-EU 21 30641373 30641373 single base substitution T G intron_variant BRCA-EU 21 30641659 30641659 single base substitution A G intron_variant BRCA-EU 21 30642761 30642761 single base substitution T A 5_prime_UTR_variant BRCA-EU 21 30642761 30642761 single base substitution T A intron_variant BRCA-EU 21 30643224 30643224 single base substitution A C intron_variant BRCA-EU 21 30643690 30643690 single base substitution A T intron_variant BRCA-EU 21 30644277 30644277 single base substitution G C intron_variant BRCA-EU 21 30645521 30645521 single base substitution C G intron_variant BRCA-EU 21 30646355 30646355 single base substitution G T intron_variant BRCA-EU 21 30647166 30647166 single base substitution C A intron_variant BRCA-EU 21 30648283 30648283 single base substitution C T intron_variant BRCA-EU 21 30649425 30649425 single base substitution G A intron_variant BRCA-EU 21 30649487 30649487 single base substitution T C intron_variant BRCA-EU 21 30649732 30649732 deletion of <=200bp T - intron_variant BRCA-EU 21 30650319 30650319 single base substitution C T intron_variant BRCA-EU 21 30650386 30650386 single base substitution A C intron_variant BRCA-EU 21 30651827 30651827 single base substitution C T intron_variant BRCA-EU 21 30652212 30652212 single base substitution A C intron_variant BRCA-EU 21 30652260 30652260 single base substitution C T intron_variant BRCA-EU 21 30652717 30652717 single base substitution G T intron_variant BRCA-EU 21 30654120 30654120 single base substitution A C intron_variant BRCA-EU 21 30654132 30654132 single base substitution C T intron_variant BRCA-EU 21 30655006 30655006 single base substitution C G intron_variant BRCA-EU 21 30655765 30655765 single base substitution C A intron_variant BRCA-EU 21 30656660 30656660 single base substitution G A intron_variant BRCA-EU 21 30659575 30659575 single base substitution C T intron_variant BRCA-EU 21 30661034 30661034 single base substitution G A intron_variant BRCA-EU 21 30661132 30661132 single base substitution A G intron_variant BRCA-EU 21 30661458 30661458 single base substitution T C intron_variant BRCA-EU 21 30663323 30663323 single base substitution G A intron_variant BRCA-EU 21 30663893 30663893 single base substitution C A intron_variant BRCA-EU 21 30665236 30665236 single base substitution G A intron_variant BRCA-EU 21 30665805 30665805 deletion of <=200bp A - intron_variant BRCA-EU 21 30665918 30665918 single base substitution C G intron_variant BRCA-EU 21 30667282 30667282 single base substitution C T intron_variant BRCA-EU 21 30667282 30667282 single base substitution C T upstream_gene_variant BRCA-EU 21 30667449 30667449 deletion of <=200bp A - intron_variant BRCA-EU 21 30667449 30667449 deletion of <=200bp A - upstream_gene_variant BRCA-EU 21 30667872 30667872 single base substitution G A intron_variant BRCA-EU 21 30667872 30667872 single base substitution G A upstream_gene_variant BRCA-EU 21 30667978 30667978 single base substitution G A intron_variant BRCA-EU 21 30667978 30667978 single base substitution G A upstream_gene_variant BRCA-EU 21 30668160 30668160 single base substitution A T intron_variant BRCA-EU 21 30668160 30668160 single base substitution A T upstream_gene_variant BRCA-EU 21 30668691 30668691 single base substitution A C intron_variant BRCA-EU 21 30668691 30668691 single base substitution A C upstream_gene_variant BRCA-EU 21 30671734 30671734 single base substitution C G intron_variant BRCA-EU 21 30671734 30671734 single base substitution C G upstream_gene_variant BRCA-EU 21 30671893 30671893 single base substitution C G 5_prime_UTR_variant BRCA-EU 21 30671893 30671893 single base substitution C G intron_variant BRCA-EU 21 30671893 30671893 single base substitution C G upstream_gene_variant BRCA-EU 21 30674098 30674098 insertion of <=200bp - T intron_variant BRCA-EU 21 30674098 30674098 insertion of <=200bp - T upstream_gene_variant BRCA-EU 21 30674793 30674793 single base substitution G C intron_variant BRCA-EU 21 30674793 30674793 single base substitution G C upstream_gene_variant BRCA-EU 21 30675146 30675146 single base substitution G C intron_variant BRCA-EU 21 30675146 30675146 single base substitution G C upstream_gene_variant BRCA-EU 21 30675382 30675382 single base substitution C G intron_variant BRCA-EU 21 30675382 30675382 single base substitution C G upstream_gene_variant BRCA-EU 21 30675412 30675412 single base substitution C G intron_variant BRCA-EU 21 30675412 30675412 single base substitution C G upstream_gene_variant BRCA-EU 21 30675495 30675496 deletion of <=200bp TA - intron_variant BRCA-EU 21 30675495 30675496 deletion of <=200bp TA - upstream_gene_variant BRCA-EU 21 30677369 30677369 single base substitution C T intron_variant BRCA-EU 21 30677369 30677369 single base substitution C T upstream_gene_variant BRCA-EU 21 30678091 30678091 single base substitution T C intron_variant BRCA-EU 21 30679022 30679022 single base substitution A T intron_variant BRCA-EU 21 30679152 30679152 single base substitution C G intron_variant BRCA-EU 21 30679914 30679914 single base substitution T A intron_variant BRCA-EU 21 30680839 30680839 single base substitution C G intron_variant BRCA-EU 21 30680896 30680896 insertion of <=200bp - T intron_variant BRCA-EU 21 30681983 30681983 single base substitution C A intron_variant BRCA-EU 21 30682034 30682034 single base substitution G C intron_variant BRCA-EU 21 30682695 30682695 single base substitution C T intron_variant BRCA-EU 21 30683172 30683172 single base substitution G A intron_variant BRCA-EU 21 30685872 30685872 single base substitution A T intron_variant BRCA-EU 21 30686252 30686252 single base substitution T A intron_variant BRCA-EU 21 30687004 30687004 single base substitution C A intron_variant BRCA-EU 21 30687819 30687819 single base substitution G A intron_variant BRCA-EU 21 30687901 30687901 single base substitution A T intron_variant BRCA-EU 21 30688610 30688610 single base substitution C T intron_variant BRCA-EU 21 30690780 30690780 single base substitution G T intron_variant BRCA-EU 21 30692632 30692632 single base substitution C A intron_variant BRCA-EU 21 30693177 30693178 deletion of <=200bp TC - intron_variant BRCA-EU 21 30693419 30693419 single base substitution T G intron_variant BRCA-EU 21 30693639 30693639 single base substitution C G missense_variant S13C 38C>G BRCA-EU 21 30694037 30694037 single base substitution G A downstream_gene_variant BRCA-EU 21 30694037 30694037 single base substitution G A intron_variant BRCA-EU 21 30694294 30694294 single base substitution C T downstream_gene_variant BRCA-EU 21 30694294 30694294 single base substitution C T intron_variant BRCA-EU 21 30694607 30694607 single base substitution C G downstream_gene_variant BRCA-EU 21 30694607 30694607 single base substitution C G intron_variant BRCA-EU 21 30694607 30694607 single base substitution C G upstream_gene_variant BRCA-EU 21 30695197 30695197 single base substitution C T downstream_gene_variant BRCA-EU 21 30695197 30695197 single base substitution C T intron_variant BRCA-EU 21 30695197 30695197 single base substitution C T upstream_gene_variant BRCA-EU 21 30697159 30697159 single base substitution T G downstream_gene_variant BRCA-EU 21 30697159 30697159 single base substitution T G intron_variant BRCA-EU 21 30697159 30697159 single base substitution T G upstream_gene_variant BRCA-EU 21 30697249 30697249 single base substitution A T downstream_gene_variant BRCA-EU 21 30697249 30697249 single base substitution A T intron_variant BRCA-EU 21 30697249 30697249 single base substitution A T upstream_gene_variant BRCA-EU 21 30699847 30699847 single base substitution T C downstream_gene_variant BRCA-EU 21 30699847 30699847 single base substitution T C intron_variant BRCA-EU 21 30700110 30700110 single base substitution C G downstream_gene_variant BRCA-EU 21 30700110 30700110 single base substitution C G intron_variant BRCA-EU 21 30701635 30701635 single base substitution T C downstream_gene_variant BRCA-EU 21 30701635 30701635 single base substitution T C intron_variant BRCA-EU 21 30705187 30705187 single base substitution C G intron_variant BRCA-EU 21 30706619 30706619 single base substitution C T intron_variant BRCA-EU 21 30708195 30708195 single base substitution C G intron_variant BRCA-EU 21 30708520 30708520 single base substitution C G intron_variant BRCA-EU 21 30708764 30708764 insertion of <=200bp - T intron_variant BRCA-EU 21 30715370 30715370 single base substitution T G 3_prime_UTR_variant BRCA-EU 21 30715370 30715370 single base substitution T G intron_variant BRCA-EU 21 30715669 30715669 single base substitution G C 3_prime_UTR_variant BRCA-EU 21 30715669 30715669 single base substitution G C intron_variant BRCA-EU 21 30719852 30719852 single base substitution C G downstream_gene_variant BRCA-EU 21 30719852 30719852 single base substitution C G intron_variant BRCA-EU 21 30723134 30723134 single base substitution C T downstream_gene_variant BRCA-EU 21 30723134 30723134 single base substitution C T intron_variant BRCA-EU 21 30724145 30724145 single base substitution T A intron_variant BRCA-EU 21 30724396 30724396 single base substitution G T intron_variant BRCA-EU 21 30724585 30724585 single base substitution G C intron_variant BRCA-EU 21 30725805 30725805 single base substitution C T intron_variant BRCA-EU 21 30725903 30725903 single base substitution C A intron_variant BRCA-EU 21 30727485 30727485 single base substitution C T intron_variant BRCA-EU 21 30727491 30727491 single base substitution G A intron_variant BRCA-EU 21 30727784 30727784 single base substitution C G intron_variant BRCA-EU 21 30728198 30728198 single base substitution G C intron_variant BRCA-EU 21 30728465 30728465 single base substitution T C intron_variant BRCA-EU 21 30731019 30731019 single base substitution C T intron_variant BRCA-EU 21 30731403 30731403 single base substitution A T intron_variant BRCA-EU 21 30731757 30731757 deletion of <=200bp A - intron_variant BRCA-EU 21 30733341 30733341 single base substitution C T intron_variant BRCA-EU 21 30733762 30733762 deletion of <=200bp T - intron_variant BRCA-EU 21 30735248 30735248 single base substitution C T intron_variant BRCA-EU 21 30735865 30735865 single base substitution T A intron_variant BRCA-EU 21 30735994 30735994 single base substitution C T intron_variant BRCA-EU 21 30736417 30736417 single base substitution A G intron_variant BRCA-EU 21 30736489 30736489 single base substitution T C intron_variant BRCA-EU 21 30737379 30737379 single base substitution G A intron_variant BRCA-EU 21 30738189 30738189 single base substitution A C intron_variant BRCA-EU 21 30738387 30738387 single base substitution C A intron_variant BRCA-EU 21 30738653 30738653 single base substitution A G intron_variant BRCA-EU 21 30739007 30739007 single base substitution C G intron_variant BRCA-EU 21 30740340 30740340 single base substitution C T intron_variant BRCA-EU 21 30741277 30741277 single base substitution C A intron_variant BRCA-EU 21 30742412 30742412 single base substitution C A intron_variant BRCA-EU 21 30742471 30742471 single base substitution A G intron_variant BRCA-EU 21 30744764 30744764 single base substitution C G intron_variant BRCA-EU 21 30746183 30746183 single base substitution G A intron_variant BRCA-EU 21 30747975 30747975 single base substitution G A intron_variant BRCA-EU 21 30749158 30749158 single base substitution A T intron_variant BRCA-EU 21 30749636 30749636 single base substitution C G intron_variant BRCA-EU 21 30749819 30749819 single base substitution G A intron_variant BRCA-EU 21 30750754 30750754 single base substitution C G intron_variant BRCA-EU 21 30751112 30751112 single base substitution G A intron_variant BRCA-EU 21 30751190 30751190 single base substitution C G intron_variant BRCA-EU 21 30751412 30751412 single base substitution C G intron_variant BRCA-EU 21 30751582 30751582 single base substitution C G intron_variant BRCA-EU 21 30751929 30751929 deletion of <=200bp A - intron_variant BRCA-EU 21 30752864 30752864 single base substitution G C intron_variant BRCA-EU 21 30754509 30754509 single base substitution C T intron_variant BRCA-EU 21 30755778 30755778 single base substitution A G intron_variant BRCA-EU 21 30756176 30756176 single base substitution T C intron_variant BRCA-EU 21 30756295 30756295 single base substitution G T intron_variant BRCA-EU 21 30757741 30757741 insertion of <=200bp - T intron_variant BRCA-EU 21 30758638 30758638 single base substitution C G intron_variant BRCA-EU 21 30760411 30760411 single base substitution G C intron_variant BRCA-EU 21 30761286 30761286 single base substitution C G intron_variant BRCA-EU 21 30761296 30761296 single base substitution T A intron_variant BRCA-EU 21 30761760 30761760 single base substitution C T intron_variant BRCA-EU 21 30761778 30761778 single base substitution C A intron_variant BRCA-EU 21 30763342 30763342 single base substitution T C intron_variant BRCA-EU 21 30763418 30763418 single base substitution C G intron_variant BRCA-EU 21 30763704 30763704 single base substitution C T intron_variant BRCA-EU 21 30763766 30763766 single base substitution T C intron_variant BRCA-EU 21 30764941 30764941 single base substitution C G intron_variant BRCA-EU 21 30764952 30764952 single base substitution C T intron_variant BRCA-EU 21 30766935 30766935 single base substitution A C intron_variant BRCA-EU 21 30767107 30767107 single base substitution C G intron_variant BRCA-EU 21 30767765 30767765 single base substitution C T intron_variant BRCA-EU 21 30768024 30768024 single base substitution T A intron_variant BRCA-EU 21 30770653 30770653 single base substitution T A intron_variant BRCA-EU 21 30772394 30772394 single base substitution C T intron_variant BRCA-EU 21 30772941 30772941 single base substitution C T intron_variant BRCA-EU 21 30773273 30773273 single base substitution A G intron_variant BRCA-EU 21 30773449 30773450 deletion of <=200bp TT - intron_variant BRCA-EU 21 30773460 30773460 deletion of <=200bp T - intron_variant BRCA-EU 21 30775496 30775496 single base substitution A C intron_variant BRCA-EU 21 30776274 30776274 single base substitution C T intron_variant BRCA-EU 21 30777109 30777109 single base substitution A G intron_variant BRCA-EU 21 30778016 30778016 single base substitution C G intron_variant BRCA-EU 21 30779103 30779103 single base substitution C T intron_variant BRCA-EU 21 30780324 30780324 single base substitution C G intron_variant BRCA-EU 21 30780536 30780536 single base substitution G C intron_variant BRCA-EU 21 30781836 30781836 single base substitution C G intron_variant BRCA-EU 21 30781931 30781931 single base substitution C T intron_variant BRCA-EU 21 30782034 30782034 single base substitution C G intron_variant BRCA-EU 21 30782406 30782406 single base substitution C A intron_variant BRCA-EU 21 30783150 30783150 single base substitution G T intron_variant BRCA-EU 21 30783449 30783449 single base substitution C A intron_variant BRCA-EU 21 30784484 30784484 single base substitution C G intron_variant BRCA-EU 21 30784579 30784579 single base substitution G A intron_variant BRCA-EU 21 30784623 30784623 single base substitution G T intron_variant BRCA-EU 21 30784775 30784775 single base substitution G A intron_variant BRCA-EU 21 30785430 30785430 single base substitution T C intron_variant BRCA-EU 21 30785552 30785552 single base substitution T A intron_variant BRCA-EU 21 30787718 30787718 single base substitution G T intron_variant BRCA-EU 21 30787991 30787991 single base substitution G T intron_variant BRCA-EU 21 30788598 30788598 single base substitution A C intron_variant BRCA-EU 21 30789373 30789373 single base substitution C G intron_variant BRCA-EU 21 30789381 30789381 single base substitution A C intron_variant BRCA-EU 21 30789382 30789382 single base substitution C T intron_variant BRCA-EU 21 30789394 30789394 single base substitution G A intron_variant BRCA-EU 21 30790337 30790337 single base substitution G A intron_variant BRCA-EU 21 30792342 30792342 single base substitution T A intron_variant BRCA-EU 21 30792345 30792345 single base substitution T C intron_variant BRCA-EU 21 30795466 30795466 single base substitution C G intron_variant BRCA-EU 21 30796539 30796539 deletion of <=200bp T - intron_variant BRCA-EU 21 30797086 30797086 single base substitution G A intron_variant BRCA-EU 21 30797745 30797745 single base substitution G C intron_variant BRCA-EU 21 30800026 30800026 single base substitution C G intron_variant BRCA-EU 21 30802009 30802009 single base substitution G A intron_variant BRCA-EU 21 30803715 30803715 single base substitution G T intron_variant BRCA-EU 21 30803725 30803725 single base substitution T G intron_variant BRCA-EU 21 30805287 30805287 single base substitution G A intron_variant BRCA-EU 21 30805446 30805446 single base substitution T C intron_variant BRCA-EU 21 30806552 30806552 single base substitution A G intron_variant BRCA-EU 21 30807280 30807280 single base substitution G C intron_variant BRCA-EU 21 30807608 30807608 single base substitution G C intron_variant BRCA-EU 21 30807743 30807743 single base substitution G A intron_variant BRCA-EU 21 30807901 30807901 single base substitution G A intron_variant BRCA-EU 21 30807909 30807909 single base substitution A G intron_variant BRCA-EU 21 30808177 30808177 single base substitution G A intron_variant BRCA-EU 21 30808514 30808514 single base substitution T G intron_variant BRCA-EU 21 30809486 30809486 single base substitution T C intron_variant BRCA-EU 21 30810835 30810835 single base substitution T A intron_variant BRCA-EU 21 30811216 30811216 single base substitution T C intron_variant BRCA-EU 21 30812830 30812830 single base substitution T A intron_variant BRCA-EU 21 30812902 30812902 deletion of <=200bp T - intron_variant BRCA-EU 21 30813157 30813157 single base substitution T C intron_variant BRCA-EU 21 30814632 30814632 single base substitution C T intron_variant BRCA-EU 21 30814749 30814749 single base substitution G T intron_variant BRCA-EU 21 30814879 30814879 single base substitution T A intron_variant BRCA-EU 21 30815081 30815081 single base substitution G A intron_variant BRCA-EU 21 30815198 30815198 single base substitution T G intron_variant BRCA-EU 21 30815287 30815287 single base substitution C G intron_variant BRCA-EU 21 30815320 30815320 single base substitution T A intron_variant BRCA-EU 21 30820080 30820080 single base substitution G C intron_variant BRCA-EU 21 30820606 30820606 single base substitution C T intron_variant BRCA-EU 21 30820987 30820987 deletion of <=200bp T - intron_variant BRCA-EU 21 30821476 30821476 single base substitution T C intron_variant BRCA-EU 21 30821567 30821567 single base substitution C T intron_variant BRCA-EU 21 30822155 30822155 single base substitution C A intron_variant BRCA-EU 21 30822345 30822345 single base substitution C T intron_variant BRCA-EU 21 30823433 30823433 single base substitution C T intron_variant BRCA-EU 21 30823820 30823820 single base substitution T C intron_variant BRCA-EU 21 30824028 30824028 single base substitution C G intron_variant BRCA-EU 21 30824573 30824573 single base substitution C G intron_variant BRCA-EU 21 30824741 30824741 single base substitution G T intron_variant BRCA-EU 21 30826262 30826262 single base substitution C T intron_variant BRCA-EU 21 30826721 30826721 single base substitution C G intron_variant BRCA-EU 21 30826893 30826893 single base substitution C T intron_variant BRCA-EU 21 30827727 30827727 single base substitution G A intron_variant BRCA-EU 21 30828903 30828903 single base substitution C T intron_variant BRCA-EU 21 30829263 30829263 single base substitution T A intron_variant BRCA-EU 21 30829932 30829932 single base substitution A G intron_variant BRCA-EU 21 30830736 30830736 single base substitution G C intron_variant BRCA-EU 21 30830788 30830788 single base substitution T C intron_variant BRCA-EU 21 30832825 30832825 single base substitution C T intron_variant BRCA-EU 21 30833778 30833778 single base substitution C T intron_variant BRCA-EU 21 30833802 30833802 single base substitution C G intron_variant BRCA-EU 21 30834281 30834281 single base substitution G A intron_variant BRCA-EU 21 30835124 30835124 single base substitution C T intron_variant BRCA-EU 21 30835266 30835266 single base substitution T C intron_variant BRCA-EU 21 30835501 30835501 single base substitution C T intron_variant BRCA-EU 21 30836603 30836603 single base substitution G A intron_variant BRCA-EU 21 30837586 30837586 single base substitution G C intron_variant BRCA-EU 21 30838546 30838546 single base substitution C G intron_variant BRCA-EU 21 30838850 30838850 single base substitution T A intron_variant BRCA-EU 21 30839091 30839091 single base substitution G T intron_variant BRCA-EU 21 30841693 30841693 single base substitution C A intron_variant BRCA-EU 21 30843324 30843324 single base substitution C G intron_variant BRCA-EU 21 30843529 30843529 single base substitution A T intron_variant BRCA-EU 21 30843545 30843545 single base substitution T C intron_variant BRCA-EU 21 30844449 30844449 single base substitution A G intron_variant BRCA-EU 21 30848091 30848091 single base substitution C T intron_variant BRCA-EU 21 30848673 30848673 single base substitution C T intron_variant BRCA-EU 21 30848936 30848936 single base substitution G A intron_variant BRCA-EU 21 30848970 30848970 single base substitution C T intron_variant BRCA-EU 21 30849163 30849163 single base substitution A T intron_variant BRCA-EU 21 30849221 30849221 insertion of <=200bp - T intron_variant BRCA-EU 21 30850244 30850244 single base substitution G C intron_variant BRCA-EU 21 30850507 30850507 single base substitution A G intron_variant BRCA-EU 21 30852059 30852059 single base substitution A T intron_variant BRCA-EU 21 30852590 30852590 single base substitution T A intron_variant BRCA-EU 21 30853860 30853860 single base substitution T C intron_variant BRCA-EU 21 30853901 30853901 single base substitution G T intron_variant BRCA-EU 21 30854846 30854846 single base substitution C A intron_variant BRCA-EU 21 30855234 30855234 single base substitution C T intron_variant BRCA-EU 21 30855914 30855914 deletion of <=200bp G - intron_variant BRCA-EU 21 30855925 30855925 single base substitution C A intron_variant BRCA-EU 21 30856939 30856939 single base substitution C G intron_variant BRCA-EU 21 30857303 30857303 single base substitution A T intron_variant BRCA-EU 21 30857499 30857499 single base substitution G A intron_variant BRCA-EU 21 30858413 30858413 single base substitution C T intron_variant BRCA-EU 21 30859266 30859266 deletion of <=200bp T - intron_variant BRCA-EU 21 30860382 30860382 single base substitution T C intron_variant BRCA-EU 21 30861347 30861347 single base substitution G A intron_variant BRCA-EU 21 30863149 30863149 single base substitution C T intron_variant BRCA-EU 21 30865038 30865038 single base substitution G A intron_variant BRCA-EU 21 30865079 30865079 single base substitution C T intron_variant BRCA-EU 21 30866034 30866034 single base substitution C T intron_variant BRCA-EU 21 30867212 30867212 single base substitution C T intron_variant BRCA-EU 21 30867520 30867520 single base substitution T C intron_variant BRCA-EU 21 30868391 30868391 single base substitution C T intron_variant BRCA-EU 21 30869386 30869386 single base substitution T C intron_variant BRCA-EU 21 30869813 30869813 single base substitution G A intron_variant BRCA-EU 21 30869861 30869861 single base substitution C T intron_variant BRCA-EU 21 30870932 30870932 single base substitution C T intron_variant BRCA-EU 21 30871683 30871683 single base substitution G A intron_variant BRCA-EU 21 30871806 30871806 single base substitution C T intron_variant BRCA-EU 21 30872672 30872672 single base substitution G A intron_variant BRCA-EU 21 30873826 30873826 single base substitution C A intron_variant BRCA-EU 21 30876664 30876664 single base substitution C T intron_variant BRCA-EU 21 30878600 30878600 single base substitution C G intron_variant BRCA-EU 21 30879163 30879163 single base substitution C G intron_variant BRCA-EU 21 30879742 30879742 single base substitution A T intron_variant BRCA-EU 21 30880477 30880477 single base substitution C A intron_variant BRCA-EU 21 30880641 30880641 single base substitution A C intron_variant BRCA-EU 21 30881280 30881280 single base substitution G C intron_variant BRCA-EU 21 30881761 30881761 single base substitution C T intron_variant BRCA-EU 21 30882227 30882227 single base substitution C G intron_variant BRCA-EU 21 30884322 30884322 single base substitution T A intron_variant BRCA-EU 21 30884914 30884914 single base substitution C T intron_variant BRCA-EU 21 30887883 30887883 single base substitution C T intron_variant BRCA-EU 21 30889415 30889415 single base substitution C T intron_variant BRCA-EU 21 30890329 30890329 single base substitution G T intron_variant BRCA-EU 21 30892336 30892336 single base substitution T A intron_variant BRCA-EU 21 30892392 30892392 single base substitution C G intron_variant BRCA-EU 21 30893046 30893046 single base substitution C T intron_variant BRCA-EU 21 30893528 30893528 single base substitution T G intron_variant BRCA-EU 21 30894082 30894082 single base substitution C G intron_variant BRCA-EU 21 30895260 30895260 single base substitution C G intron_variant BRCA-EU 21 30895813 30895813 single base substitution G A intron_variant BRCA-EU 21 30897336 30897336 single base substitution T C intron_variant BRCA-EU 21 30898596 30898596 single base substitution A G intron_variant BRCA-EU 21 30900234 30900234 single base substitution C T intron_variant BRCA-EU 21 30901770 30901770 single base substitution C T intron_variant BRCA-EU 21 30902644 30902644 single base substitution C T intron_variant BRCA-EU 21 30903599 30903599 single base substitution C T intron_variant BRCA-EU 21 30903619 30903619 deletion of <=200bp T - intron_variant BRCA-EU 21 30905302 30905302 single base substitution G C intron_variant BRCA-EU 21 30908164 30908164 single base substitution C A intron_variant BRCA-EU 21 30908726 30908726 single base substitution C A intron_variant BRCA-EU 21 30909048 30909048 single base substitution G A intron_variant BRCA-EU 21 30910002 30910002 single base substitution G T intron_variant BRCA-EU 21 30910252 30910252 single base substitution C A intron_variant BRCA-EU 21 30910811 30910813 deletion of <=200bp TCT - intron_variant BRCA-EU 21 30911205 30911205 single base substitution T A intron_variant BRCA-EU 21 30912499 30912499 single base substitution C G intron_variant BRCA-EU 21 30912710 30912710 single base substitution T C intron_variant BRCA-EU 21 30914423 30914423 single base substitution G C intron_variant BRCA-EU 21 30914454 30914454 single base substitution C T intron_variant BRCA-EU 21 30915432 30915432 deletion of <=200bp T - intron_variant BRCA-EU 21 30915531 30915531 single base substitution A C intron_variant BRCA-EU 21 30915766 30915766 single base substitution G A intron_variant BRCA-EU 21 30916359 30916359 single base substitution C T intron_variant BRCA-EU 21 30917229 30917229 single base substitution C T intron_variant BRCA-EU 21 30918302 30918302 single base substitution C G intron_variant BRCA-EU 21 30918331 30918331 single base substitution G A intron_variant BRCA-EU 21 30918525 30918525 single base substitution G A intron_variant BRCA-EU 21 30919063 30919063 single base substitution T C intron_variant BRCA-EU 21 30919475 30919475 single base substitution C A intron_variant BRCA-EU 21 30919962 30919962 single base substitution C T intron_variant BRCA-EU 21 30920352 30920352 single base substitution C T intron_variant BRCA-EU 21 30920633 30920633 deletion of <=200bp C - intron_variant BRCA-EU 21 30921914 30921914 single base substitution C T intron_variant BRCA-EU 21 30922879 30922879 single base substitution C A intron_variant BRCA-EU 21 30923013 30923013 single base substitution T C intron_variant BRCA-EU 21 30923738 30923738 single base substitution A G intron_variant BRCA-EU 21 30924026 30924026 single base substitution G C intron_variant BRCA-EU 21 30925545 30925545 single base substitution C T intron_variant BRCA-EU 21 30926655 30926655 single base substitution G A intron_variant BRCA-EU 21 30926858 30926858 insertion of <=200bp - A intron_variant BRCA-EU 21 30928079 30928079 single base substitution G C intron_variant BRCA-EU 21 30928954 30928954 single base substitution T G intron_variant BRCA-EU 21 30929597 30929597 single base substitution G C intron_variant BRCA-EU 21 30930480 30930480 single base substitution T G intron_variant BRCA-EU 21 30930813 30930813 single base substitution G C intron_variant BRCA-EU 21 30931088 30931088 single base substitution G T intron_variant BRCA-EU 21 30931632 30931632 single base substitution G A intron_variant BRCA-EU 21 30932083 30932083 single base substitution G A intron_variant BRCA-EU 21 30933107 30933107 single base substitution G C intron_variant BRCA-EU 21 30933578 30933578 single base substitution C G intron_variant BRCA-EU 21 30933679 30933679 single base substitution G A intron_variant BRCA-EU 21 30935270 30935270 single base substitution G C intron_variant BRCA-EU 21 30935279 30935279 single base substitution T G intron_variant BRCA-EU 21 30935383 30935383 single base substitution G C intron_variant BRCA-EU 21 30937756 30937756 single base substitution C G intron_variant BRCA-EU 21 30937816 30937816 single base substitution G A intron_variant BRCA-EU 21 30938069 30938069 single base substitution C T intron_variant BRCA-EU 21 30938202 30938202 single base substitution C T intron_variant BRCA-EU 21 30938231 30938231 single base substitution T A intron_variant BRCA-EU 21 30938443 30938443 single base substitution A T intron_variant BRCA-EU 21 30940041 30940041 single base substitution C A intron_variant BRCA-EU 21 30942793 30942793 single base substitution G A intron_variant BRCA-EU 21 30943601 30943601 single base substitution C G intron_variant BRCA-EU 21 30943712 30943712 single base substitution C G intron_variant BRCA-EU 21 30945092 30945092 single base substitution T C intron_variant BRCA-EU 21 30945189 30945189 single base substitution C G intron_variant BRCA-EU 21 30948188 30948188 deletion of <=200bp A - intron_variant BRCA-EU 21 30948817 30948817 single base substitution C G intron_variant BRCA-EU 21 30950143 30950143 single base substitution C G intron_variant BRCA-EU 21 30950261 30950261 single base substitution A T intron_variant BRCA-EU 21 30951315 30951315 single base substitution A T intron_variant BRCA-EU 21 30951544 30951544 single base substitution C T intron_variant BRCA-EU 21 30951860 30951860 single base substitution A T intron_variant BRCA-EU 21 30952857 30952857 insertion of <=200bp - A intron_variant BRCA-EU 21 30956629 30956629 deletion of <=200bp T - intron_variant BRCA-EU 21 30956888 30956888 single base substitution T A intron_variant BRCA-EU 21 30957015 30957015 single base substitution A T intron_variant BRCA-EU 21 30957512 30957512 single base substitution G T intron_variant BRCA-EU 21 30958766 30958766 single base substitution A G intron_variant BRCA-EU 21 30958896 30958896 single base substitution T G intron_variant BRCA-EU 21 30961156 30961156 single base substitution T C intron_variant BRCA-EU 21 30961959 30961959 single base substitution G C intron_variant BRCA-EU 21 30962510 30962510 single base substitution A C intron_variant BRCA-EU 21 30962722 30962722 single base substitution A T intron_variant BRCA-EU 21 30963240 30963240 single base substitution C A intron_variant BRCA-EU 21 30963424 30963424 single base substitution C G intron_variant BRCA-EU 21 30963424 30963424 single base substitution C G upstream_gene_variant BRCA-EU 21 30964580 30964580 single base substitution G A intron_variant BRCA-EU 21 30964580 30964580 single base substitution G A upstream_gene_variant BRCA-EU 21 30965890 30965890 single base substitution G A intron_variant BRCA-EU 21 30965890 30965890 single base substitution G A upstream_gene_variant BRCA-EU 21 30967321 30967321 single base substitution G A intron_variant BRCA-EU 21 30967321 30967321 single base substitution G A upstream_gene_variant BRCA-EU 21 30967460 30967460 single base substitution G C intron_variant BRCA-EU 21 30967460 30967460 single base substitution G C upstream_gene_variant BRCA-EU 21 30968033 30968033 single base substitution A C intron_variant BRCA-EU 21 30968033 30968033 single base substitution A C upstream_gene_variant BRCA-EU 21 30969274 30969274 insertion of <=200bp - AC intron_variant BRCA-EU 21 30970536 30970536 single base substitution A G intron_variant BRCA-EU 21 30971006 30971009 deletion of <=200bp AAAG - intron_variant BRCA-EU 21 30972092 30972092 single base substitution A T intron_variant BRCA-EU 21 30976389 30976389 single base substitution G A intron_variant BRCA-EU 21 30976855 30976855 single base substitution T C intron_variant BRCA-EU 21 30978026 30978026 single base substitution C T intron_variant BRCA-EU 21 30978301 30978301 single base substitution A G intron_variant BRCA-EU 21 30979790 30979790 single base substitution T C intron_variant BRCA-EU 21 30979882 30979882 single base substitution T G intron_variant BRCA-EU 21 30981569 30981569 single base substitution A T intron_variant BRCA-EU 21 30981680 30981680 single base substitution T G intron_variant BRCA-EU 21 30982062 30982062 single base substitution C T intron_variant BRCA-EU 21 30983273 30983273 single base substitution T G intron_variant BRCA-EU 21 30985379 30985379 single base substitution T G intron_variant BRCA-EU 21 30985904 30985904 single base substitution A G intron_variant BRCA-EU 21 30985996 30985996 single base substitution T C intron_variant BRCA-EU 21 30986234 30986234 single base substitution T C intron_variant BRCA-EU 21 30987263 30987263 single base substitution A G intron_variant BRCA-EU 21 30987325 30987325 single base substitution C T intron_variant BRCA-EU 21 30987790 30987790 single base substitution T A intron_variant BRCA-EU 21 30988572 30988572 single base substitution G A intron_variant BRCA-EU 21 30989725 30989725 single base substitution A T intron_variant BRCA-EU 21 30989824 30989824 single base substitution A C intron_variant BRCA-EU 21 30989888 30989888 single base substitution G A intron_variant BRCA-EU 21 30990117 30990117 single base substitution A T intron_variant BRCA-EU 21 30991056 30991056 single base substitution C T intron_variant BRCA-EU 21 30991501 30991501 single base substitution G T intron_variant BRCA-EU 21 30991673 30991673 single base substitution C G intron_variant BRCA-EU 21 30992537 30992537 single base substitution G C intron_variant BRCA-EU 21 30993359 30993359 single base substitution C A intron_variant BRCA-EU 21 30994853 30994853 single base substitution C G intron_variant BRCA-EU 21 30995104 30995104 single base substitution G T intron_variant BRCA-EU 21 30996437 30996437 single base substitution C G intron_variant BRCA-EU 21 30996874 30996874 single base substitution C G intron_variant BRCA-EU 21 30997290 30997295 deletion of <=200bp TCCTGT - intron_variant BRCA-EU 21 30998446 30998446 single base substitution G A intron_variant BRCA-EU 21 30999628 30999628 single base substitution C G intron_variant BRCA-EU 21 31000341 31000341 single base substitution A G intron_variant BRCA-EU 21 31002229 31002229 single base substitution A G intron_variant BRCA-EU 21 31002416 31002416 single base substitution A C intron_variant BRCA-EU 21 31002500 31002500 single base substitution A G intron_variant BRCA-EU 21 31003694 31003694 single base substitution A G downstream_gene_variant BRCA-EU 21 31004183 31004183 single base substitution C G downstream_gene_variant BRCA-EU 21 31004261 31004261 single base substitution C T downstream_gene_variant BRCA-EU 21 31004572 31004572 single base substitution G T downstream_gene_variant BRCA-EU 21 31004807 31004807 single base substitution T G downstream_gene_variant BRCA-EU 21 31005274 31005274 single base substitution C T downstream_gene_variant BRCA-EU 21 31005499 31005499 single base substitution C G downstream_gene_variant BRCA-EU 21 31006892 31006892 single base substitution T A downstream_gene_variant BRCA-FR 21 30569276 30569276 single base substitution G T intron_variant BRCA-FR 21 30569835 30569835 single base substitution T A intron_variant BRCA-FR 21 30585156 30585156 single base substitution C G intron_variant BRCA-FR 21 30594760 30594760 single base substitution C T intron_variant BRCA-FR 21 30600038 30600038 single base substitution C G intron_variant BRCA-FR 21 30606726 30606726 single base substitution G C intron_variant BRCA-FR 21 30614983 30614983 single base substitution A G intron_variant BRCA-FR 21 30616257 30616257 single base substitution G A intron_variant BRCA-FR 21 30616759 30616759 single base substitution A T intron_variant BRCA-FR 21 30620743 30620743 single base substitution C T intron_variant BRCA-FR 21 30635150 30635150 single base substitution T C intron_variant BRCA-FR 21 30656660 30656660 single base substitution G A intron_variant BRCA-FR 21 30657378 30657378 single base substitution C G intron_variant BRCA-FR 21 30667282 30667282 single base substitution C T intron_variant BRCA-FR 21 30667282 30667282 single base substitution C T upstream_gene_variant BRCA-FR 21 30668691 30668691 single base substitution A C intron_variant BRCA-FR 21 30668691 30668691 single base substitution A C upstream_gene_variant BRCA-FR 21 30682034 30682034 single base substitution G C intron_variant BRCA-FR 21 30694607 30694607 single base substitution C G downstream_gene_variant BRCA-FR 21 30694607 30694607 single base substitution C G intron_variant BRCA-FR 21 30694607 30694607 single base substitution C G upstream_gene_variant BRCA-FR 21 30699124 30699124 single base substitution C T downstream_gene_variant BRCA-FR 21 30699124 30699124 single base substitution C T missense_variant H327Y 979C>T BRCA-FR 21 30699124 30699124 single base substitution C T upstream_gene_variant BRCA-FR 21 30707706 30707706 single base substitution C G intron_variant BRCA-FR 21 30719852 30719852 single base substitution C G downstream_gene_variant BRCA-FR 21 30719852 30719852 single base substitution C G intron_variant BRCA-FR 21 30720808 30720808 single base substitution C T downstream_gene_variant BRCA-FR 21 30720808 30720808 single base substitution C T intron_variant BRCA-FR 21 30733341 30733341 single base substitution C T intron_variant BRCA-FR 21 30735994 30735994 single base substitution C T intron_variant BRCA-FR 21 30738153 30738153 single base substitution C T intron_variant BRCA-FR 21 30747975 30747975 single base substitution G A intron_variant BRCA-FR 21 30749158 30749158 single base substitution A T intron_variant BRCA-FR 21 30751190 30751190 single base substitution C G intron_variant BRCA-FR 21 30762386 30762386 single base substitution T C intron_variant BRCA-FR 21 30763418 30763418 single base substitution C G intron_variant BRCA-FR 21 30772394 30772394 single base substitution C T intron_variant BRCA-FR 21 30782034 30782034 single base substitution C G intron_variant BRCA-FR 21 30782406 30782406 single base substitution C A intron_variant BRCA-FR 21 30784484 30784484 single base substitution C G intron_variant BRCA-FR 21 30789373 30789373 single base substitution C G intron_variant BRCA-FR 21 30821567 30821567 single base substitution C T intron_variant BRCA-FR 21 30824028 30824028 single base substitution C G intron_variant BRCA-FR 21 30824573 30824573 single base substitution C G intron_variant BRCA-FR 21 30826262 30826262 single base substitution C T intron_variant BRCA-FR 21 30826893 30826893 single base substitution C T intron_variant BRCA-FR 21 30835124 30835124 single base substitution C T intron_variant BRCA-FR 21 30835501 30835501 single base substitution C T intron_variant BRCA-FR 21 30848936 30848936 single base substitution G A intron_variant BRCA-FR 21 30848970 30848970 single base substitution C T intron_variant BRCA-FR 21 30854137 30854137 single base substitution T C intron_variant BRCA-FR 21 30858413 30858413 single base substitution C T intron_variant BRCA-FR 21 30865038 30865038 single base substitution G A intron_variant BRCA-FR 21 30865079 30865079 single base substitution C T intron_variant BRCA-FR 21 30870979 30870979 single base substitution G A intron_variant BRCA-FR 21 30894082 30894082 single base substitution C G intron_variant BRCA-FR 21 30910002 30910002 single base substitution G T intron_variant BRCA-FR 21 30921900 30921900 single base substitution G C intron_variant BRCA-FR 21 30930813 30930813 single base substitution G C intron_variant BRCA-FR 21 30935383 30935383 single base substitution G C intron_variant BRCA-FR 21 30957512 30957512 single base substitution G T intron_variant BRCA-FR 21 30965756 30965756 single base substitution C G intron_variant BRCA-FR 21 30965756 30965756 single base substitution C G upstream_gene_variant BRCA-FR 21 30978026 30978026 single base substitution C T intron_variant BRCA-FR 21 30979790 30979790 single base substitution T C intron_variant BRCA-FR 21 30982162 30982162 single base substitution C T intron_variant BRCA-FR 21 30989824 30989824 single base substitution A C intron_variant BRCA-FR 21 30996874 30996874 single base substitution C G intron_variant BRCA-FR 21 30998446 30998446 single base substitution G A intron_variant BRCA-FR 21 31004261 31004261 single base substitution C T downstream_gene_variant BRCA-UK 21 30561795 30561795 single base substitution G C upstream_gene_variant BRCA-UK 21 30561931 30561931 single base substitution G C upstream_gene_variant BRCA-UK 21 30566219 30566219 single base substitution C G upstream_gene_variant BRCA-UK 21 30595988 30595988 single base substitution G T intron_variant BRCA-UK 21 30603904 30603904 single base substitution C T intron_variant BRCA-UK 21 30618230 30618230 single base substitution T G intron_variant BRCA-UK 21 30623133 30623133 single base substitution C A intron_variant BRCA-UK 21 30679914 30679914 single base substitution T A intron_variant BRCA-UK 21 30694037 30694037 single base substitution G A downstream_gene_variant BRCA-UK 21 30694037 30694037 single base substitution G A intron_variant BRCA-UK 21 30707048 30707048 single base substitution C G intron_variant BRCA-UK 21 30712236 30712236 single base substitution C G intron_variant BRCA-UK 21 30735865 30735865 single base substitution T A intron_variant BRCA-UK 21 30756295 30756295 single base substitution G T intron_variant BRCA-UK 21 30756336 30756336 single base substitution C T intron_variant BRCA-UK 21 30783150 30783150 single base substitution G T intron_variant BRCA-UK 21 30784775 30784775 single base substitution G A intron_variant BRCA-UK 21 30803725 30803725 single base substitution T G intron_variant BRCA-UK 21 30805461 30805461 single base substitution C T intron_variant BRCA-UK 21 30909692 30909692 single base substitution G A intron_variant BRCA-UK 21 30967321 30967321 single base substitution G A intron_variant BRCA-UK 21 30967321 30967321 single base substitution G A upstream_gene_variant BRCA-UK 21 30987263 30987263 single base substitution A G intron_variant BRCA-US 21 30699316 30699316 single base substitution C T downstream_gene_variant BRCA-US 21 30699316 30699316 single base substitution C T stop_gained R391* 1171C>T BRCA-US 21 30699316 30699316 single base substitution C T upstream_gene_variant BRCA-US 21 30699365 30699365 single base substitution G A downstream_gene_variant BRCA-US 21 30699365 30699365 single base substitution G A missense_variant S407N 1220G>A BRCA-US 21 30699365 30699365 single base substitution G A upstream_gene_variant BRCA-US 21 30699407 30699407 single base substitution C T downstream_gene_variant BRCA-US 21 30699407 30699407 single base substitution C T missense_variant A421V 1262C>T BRCA-US 21 30699407 30699407 single base substitution C T upstream_gene_variant BRCA-US 21 30909633 30909633 single base substitution G C intron_variant BRCA-US 21 30909667 30909667 single base substitution A G intron_variant BRCA-US 21 30925922 30925922 single base substitution C T intron_variant BRCA-US 21 30927588 30927588 single base substitution G T intron_variant BRCA-US 21 30934055 30934055 single base substitution G A intron_variant BRCA-US 21 30934056 30934056 single base substitution C T intron_variant BRCA-US 21 30949301 30949301 single base substitution T C intron_variant BRCA-US 21 30971250 30971250 single base substitution C A intron_variant BTCA-JP 21 30698437 30698437 single base substitution T G downstream_gene_variant BTCA-JP 21 30698437 30698437 single base substitution T G missense_variant L98V 292T>G BTCA-JP 21 30698437 30698437 single base substitution T G upstream_gene_variant BTCA-JP 21 30698951 30698951 single base substitution A G downstream_gene_variant BTCA-JP 21 30698951 30698951 single base substitution A G missense_variant E269G 806A>G BTCA-JP 21 30698951 30698951 single base substitution A G upstream_gene_variant BTCA-JP 21 30910004 30910004 single base substitution T C intron_variant BTCA-JP 21 30925905 30925905 single base substitution G A intron_variant BTCA-JP 21 30961070 30961070 single base substitution A C intron_variant BTCA-JP 21 30961228 30961228 single base substitution G A intron_variant BTCA-JP 21 30968943 30968943 single base substitution G A exon_variant BTCA-JP 21 30968943 30968943 single base substitution G A intron_variant BTCA-JP 21 30970139 30970139 deletion of <=200bp T - intron_variant CESC-US 21 30698588 30698588 single base substitution C T downstream_gene_variant CESC-US 21 30698588 30698588 single base substitution C T missense_variant S148L 443C>T CESC-US 21 30698588 30698588 single base substitution C T upstream_gene_variant CESC-US 21 30699110 30699110 single base substitution C G downstream_gene_variant CESC-US 21 30699110 30699110 single base substitution C G missense_variant S322C 965C>G CESC-US 21 30699110 30699110 single base substitution C G upstream_gene_variant CESC-US 21 30699443 30699443 single base substitution C G downstream_gene_variant CESC-US 21 30699443 30699443 single base substitution C G missense_variant S433C 1298C>G CESC-US 21 30699443 30699443 single base substitution C G upstream_gene_variant CESC-US 21 30701994 30701994 single base substitution G A downstream_gene_variant CESC-US 21 30701994 30701994 single base substitution G A missense_variant E102K 304G>A CESC-US 21 30701994 30701994 single base substitution G A missense_variant E151K 451G>A CESC-US 21 30701994 30701994 single base substitution G A missense_variant E586K 1756G>A CESC-US 21 30714831 30714831 single base substitution C G intron_variant CESC-US 21 30714831 30714831 single base substitution C G missense_variant L630V 1888C>G CESC-US 21 30714889 30714889 single base substitution C T intron_variant CESC-US 21 30714889 30714889 single base substitution C T missense_variant S649L 1946C>T CESC-US 21 30909691 30909691 single base substitution C T intron_variant CESC-US 21 30925920 30925920 single base substitution C G intron_variant CESC-US 21 30953833 30953833 single base substitution G T intron_variant CESC-US 21 30961186 30961186 single base substitution G A intron_variant CLLE-ES 21 30567343 30567343 single base substitution G T intron_variant CLLE-ES 21 30576364 30576364 single base substitution T C intron_variant CLLE-ES 21 30581975 30581975 single base substitution C A intron_variant CLLE-ES 21 30591283 30591283 single base substitution A G intron_variant CLLE-ES 21 30596817 30596817 single base substitution C A intron_variant CLLE-ES 21 30608697 30608697 single base substitution A G intron_variant CLLE-ES 21 30673121 30673121 single base substitution G A intron_variant CLLE-ES 21 30673121 30673121 single base substitution G A upstream_gene_variant CLLE-ES 21 30676994 30676994 single base substitution G T intron_variant CLLE-ES 21 30676994 30676994 single base substitution G T upstream_gene_variant CLLE-ES 21 30707494 30707494 single base substitution C T intron_variant CLLE-ES 21 30720344 30720344 single base substitution T A downstream_gene_variant CLLE-ES 21 30720344 30720344 single base substitution T A intron_variant CLLE-ES 21 30740232 30740232 deletion of <=200bp A - intron_variant CLLE-ES 21 30741453 30741453 single base substitution C T intron_variant CLLE-ES 21 30769981 30769981 single base substitution C G intron_variant CLLE-ES 21 30781608 30781608 single base substitution A G intron_variant CLLE-ES 21 30783278 30783278 single base substitution A G intron_variant CLLE-ES 21 30795277 30795277 insertion of <=200bp - GGTT intron_variant CLLE-ES 21 30804487 30804487 single base substitution C G intron_variant CLLE-ES 21 30816420 30816420 single base substitution C T intron_variant CLLE-ES 21 30823537 30823537 single base substitution A T intron_variant CLLE-ES 21 30824455 30824455 single base substitution T A intron_variant CLLE-ES 21 30826534 30826534 single base substitution C A intron_variant CLLE-ES 21 30865064 30865064 single base substitution A T intron_variant CLLE-ES 21 30878210 30878210 single base substitution T G intron_variant CLLE-ES 21 30889484 30889484 single base substitution G A intron_variant CLLE-ES 21 30904666 30904666 single base substitution A C intron_variant CLLE-ES 21 30949845 30949845 single base substitution T C intron_variant CLLE-ES 21 30960987 30960987 single base substitution A G intron_variant CLLE-ES 21 30971613 30971613 single base substitution G C intron_variant CLLE-ES 21 30976677 30976677 single base substitution T C intron_variant CLLE-ES 21 30980449 30980449 single base substitution A G intron_variant CLLE-ES 21 31002472 31002472 single base substitution G A intron_variant CLLE-ES 21 31005196 31005196 single base substitution A C downstream_gene_variant COAD-US 21 30693737 30693737 single base substitution C A downstream_gene_variant COAD-US 21 30693737 30693737 single base substitution C A missense_variant R46S 136C>A COAD-US 21 30698864 30698864 single base substitution G A downstream_gene_variant COAD-US 21 30698864 30698864 single base substitution G A missense_variant R240H 719G>A COAD-US 21 30698864 30698864 single base substitution G A upstream_gene_variant COAD-US 21 30698954 30698954 single base substitution G A downstream_gene_variant COAD-US 21 30698954 30698954 single base substitution G A missense_variant C270Y 809G>A COAD-US 21 30698954 30698954 single base substitution G A upstream_gene_variant COAD-US 21 30699008 30699008 single base substitution C A downstream_gene_variant COAD-US 21 30699008 30699008 single base substitution C A missense_variant P288H 863C>A COAD-US 21 30699008 30699008 single base substitution C A upstream_gene_variant COAD-US 21 30699435 30699435 single base substitution G T downstream_gene_variant COAD-US 21 30699435 30699435 single base substitution G T missense_variant Q430H 1290G>T COAD-US 21 30699435 30699435 single base substitution G T upstream_gene_variant COAD-US 21 30714776 30714776 single base substitution T C intron_variant COAD-US 21 30714776 30714776 single base substitution T C synonymous_variant G611G 1833T>C COAD-US 21 30926004 30926004 single base substitution G T intron_variant COAD-US 21 30933991 30933991 single base substitution G A intron_variant COAD-US 21 30934054 30934054 single base substitution C T intron_variant COAD-US 21 30959733 30959733 single base substitution C A intron_variant COAD-US 21 30961328 30961328 single base substitution T A intron_variant COAD-US 21 30971183 30971183 single base substitution G A intron_variant COCA-CN 21 30568690 30568690 single base substitution C G intron_variant COCA-CN 21 30693573 30693573 single base substitution G T 5_prime_UTR_variant COCA-CN 21 30699613 30699613 single base substitution G A downstream_gene_variant COCA-CN 21 30699613 30699613 single base substitution G A missense_variant E490K 1468G>A COCA-CN 21 30699613 30699613 single base substitution G A missense_variant E55K 163G>A COCA-CN 21 30699613 30699613 single base substitution G A missense_variant E6K 16G>A COCA-CN 21 30699700 30699700 single base substitution G T downstream_gene_variant COCA-CN 21 30699700 30699700 single base substitution G T stop_gained E35* 103G>T COCA-CN 21 30699700 30699700 single base substitution G T stop_gained E519* 1555G>T COCA-CN 21 30699700 30699700 single base substitution G T stop_gained E84* 250G>T COCA-CN 21 30715075 30715075 single base substitution C A intron_variant COCA-CN 21 30715075 30715075 single base substitution C A missense_variant P711H 2132C>A COCA-CN 21 30829888 30829888 single base substitution G C intron_variant COCA-CN 21 30909704 30909704 single base substitution A G intron_variant COCA-CN 21 30909750 30909750 single base substitution C T intron_variant COCA-CN 21 30910222 30910222 single base substitution A G intron_variant COCA-CN 21 30927600 30927600 single base substitution T C intron_variant COCA-CN 21 30932899 30932899 single base substitution C T intron_variant COCA-CN 21 30949230 30949230 single base substitution A T intron_variant COCA-CN 21 30949423 30949423 single base substitution G T intron_variant COCA-CN 21 30949432 30949432 single base substitution A C intron_variant COCA-CN 21 30954573 30954573 single base substitution C A intron_variant COCA-CN 21 30959775 30959775 single base substitution G T intron_variant COCA-CN 21 30959908 30959908 single base substitution C A intron_variant COCA-CN 21 30969901 30969901 single base substitution T C exon_variant COCA-CN 21 30969901 30969901 single base substitution T C missense_variant C175R 523T>C COCA-CN 21 30969901 30969901 single base substitution T C synonymous_variant H112H 336T>C COCA-CN 21 31002766 31002766 single base substitution G A intron_variant COCA-CN 21 31002876 31002876 single base substitution A C 3_prime_UTR_variant COCA-CN 21 31002876 31002876 single base substitution A C exon_variant COCA-CN 21 31002876 31002876 single base substitution A C stop_lost *218Y 654A>C EOPC-DE 21 30645817 30645817 single base substitution A G intron_variant EOPC-DE 21 30712545 30712545 single base substitution T A intron_variant EOPC-DE 21 30767121 30767121 single base substitution T A intron_variant ESAD-UK 21 30562270 30562270 single base substitution G A upstream_gene_variant ESAD-UK 21 30564038 30564038 single base substitution T C upstream_gene_variant ESAD-UK 21 30565601 30565601 single base substitution A T upstream_gene_variant ESAD-UK 21 30569597 30569597 single base substitution C T intron_variant ESAD-UK 21 30571131 30571131 single base substitution C T intron_variant ESAD-UK 21 30575155 30575155 single base substitution T C intron_variant ESAD-UK 21 30575306 30575306 single base substitution G C intron_variant ESAD-UK 21 30576165 30576165 single base substitution T G intron_variant ESAD-UK 21 30580404 30580404 single base substitution C T intron_variant ESAD-UK 21 30580415 30580415 single base substitution G T intron_variant ESAD-UK 21 30580807 30580807 single base substitution G A intron_variant ESAD-UK 21 30580900 30580900 single base substitution C T intron_variant ESAD-UK 21 30584168 30584168 single base substitution G A intron_variant ESAD-UK 21 30585737 30585737 single base substitution T A intron_variant ESAD-UK 21 30587395 30587395 single base substitution C T intron_variant ESAD-UK 21 30587470 30587470 deletion of <=200bp A - intron_variant ESAD-UK 21 30589791 30589791 single base substitution G A intron_variant ESAD-UK 21 30589797 30589797 single base substitution G A intron_variant ESAD-UK 21 30589807 30589807 single base substitution C G intron_variant ESAD-UK 21 30592081 30592081 single base substitution G A intron_variant ESAD-UK 21 30596911 30596911 single base substitution A G intron_variant ESAD-UK 21 30597313 30597313 single base substitution A G intron_variant ESAD-UK 21 30597950 30597950 single base substitution T A intron_variant ESAD-UK 21 30598007 30598007 insertion of <=200bp - C intron_variant ESAD-UK 21 30599406 30599406 single base substitution C T intron_variant ESAD-UK 21 30599496 30599496 single base substitution T C intron_variant ESAD-UK 21 30599525 30599525 single base substitution G A intron_variant ESAD-UK 21 30600045 30600045 single base substitution C G intron_variant ESAD-UK 21 30600304 30600304 single base substitution C G intron_variant ESAD-UK 21 30600597 30600597 single base substitution C G intron_variant ESAD-UK 21 30605439 30605439 single base substitution C T intron_variant ESAD-UK 21 30605809 30605809 single base substitution A C intron_variant ESAD-UK 21 30609901 30609901 deletion of <=200bp C - intron_variant ESAD-UK 21 30610011 30610011 single base substitution C T intron_variant ESAD-UK 21 30617375 30617375 single base substitution C G intron_variant ESAD-UK 21 30617419 30617419 single base substitution A C intron_variant ESAD-UK 21 30620800 30620800 single base substitution T A intron_variant ESAD-UK 21 30620832 30620832 single base substitution C A intron_variant ESAD-UK 21 30621222 30621222 single base substitution A C intron_variant ESAD-UK 21 30622465 30622465 single base substitution T A intron_variant ESAD-UK 21 30624234 30624234 single base substitution T C intron_variant ESAD-UK 21 30624316 30624316 single base substitution G T intron_variant ESAD-UK 21 30625062 30625062 single base substitution T G intron_variant ESAD-UK 21 30625199 30625199 single base substitution A G intron_variant ESAD-UK 21 30625682 30625682 single base substitution A C intron_variant ESAD-UK 21 30625726 30625726 single base substitution C T intron_variant ESAD-UK 21 30626212 30626212 single base substitution T C intron_variant ESAD-UK 21 30627945 30627945 insertion of <=200bp - T intron_variant ESAD-UK 21 30631737 30631737 single base substitution T G intron_variant ESAD-UK 21 30632155 30632155 single base substitution G A intron_variant ESAD-UK 21 30633719 30633719 single base substitution A C intron_variant ESAD-UK 21 30635297 30635297 single base substitution G A intron_variant ESAD-UK 21 30636417 30636417 single base substitution C G intron_variant ESAD-UK 21 30636679 30636679 single base substitution C T intron_variant ESAD-UK 21 30637435 30637435 single base substitution T G intron_variant ESAD-UK 21 30641190 30641190 single base substitution A C intron_variant ESAD-UK 21 30642207 30642207 single base substitution C T intron_variant ESAD-UK 21 30643690 30643690 single base substitution A T intron_variant ESAD-UK 21 30648341 30648341 single base substitution T A intron_variant ESAD-UK 21 30649265 30649265 single base substitution A T intron_variant ESAD-UK 21 30651063 30651063 single base substitution G T intron_variant ESAD-UK 21 30654078 30654078 single base substitution G A intron_variant ESAD-UK 21 30664979 30664979 single base substitution C T intron_variant ESAD-UK 21 30665207 30665207 single base substitution C G intron_variant ESAD-UK 21 30666424 30666424 single base substitution A G intron_variant ESAD-UK 21 30666424 30666424 single base substitution A G upstream_gene_variant ESAD-UK 21 30672655 30672655 single base substitution G T intron_variant ESAD-UK 21 30672655 30672655 single base substitution G T upstream_gene_variant ESAD-UK 21 30676360 30676360 single base substitution T C intron_variant ESAD-UK 21 30676360 30676360 single base substitution T C upstream_gene_variant ESAD-UK 21 30677010 30677010 single base substitution A G intron_variant ESAD-UK 21 30677010 30677010 single base substitution A G upstream_gene_variant ESAD-UK 21 30677511 30677511 single base substitution T C intron_variant ESAD-UK 21 30677511 30677511 single base substitution T C upstream_gene_variant ESAD-UK 21 30681051 30681051 single base substitution G C intron_variant ESAD-UK 21 30685435 30685435 single base substitution T G intron_variant ESAD-UK 21 30688209 30688209 single base substitution T C intron_variant ESAD-UK 21 30688877 30688877 single base substitution A G intron_variant ESAD-UK 21 30689195 30689195 single base substitution G A intron_variant ESAD-UK 21 30690890 30690890 single base substitution T C intron_variant ESAD-UK 21 30691055 30691055 single base substitution T A intron_variant ESAD-UK 21 30693373 30693373 single base substitution C T intron_variant ESAD-UK 21 30694815 30694815 single base substitution C A downstream_gene_variant ESAD-UK 21 30694815 30694815 single base substitution C A intron_variant ESAD-UK 21 30694815 30694815 single base substitution C A upstream_gene_variant ESAD-UK 21 30700922 30700922 single base substitution C T downstream_gene_variant ESAD-UK 21 30700922 30700922 single base substitution C T intron_variant ESAD-UK 21 30701922 30701922 single base substitution C T downstream_gene_variant ESAD-UK 21 30701922 30701922 single base substitution C T stop_gained R127* 379C>T ESAD-UK 21 30701922 30701922 single base substitution C T stop_gained R562* 1684C>T ESAD-UK 21 30701922 30701922 single base substitution C T stop_gained R78* 232C>T ESAD-UK 21 30704242 30704242 single base substitution G C intron_variant ESAD-UK 21 30706077 30706077 single base substitution T G intron_variant ESAD-UK 21 30707032 30707032 single base substitution T G intron_variant ESAD-UK 21 30716165 30716165 single base substitution T G 3_prime_UTR_variant ESAD-UK 21 30716165 30716165 single base substitution T G intron_variant ESAD-UK 21 30718126 30718126 single base substitution A G 3_prime_UTR_variant ESAD-UK 21 30718126 30718126 single base substitution A G intron_variant ESAD-UK 21 30722171 30722171 single base substitution C T downstream_gene_variant ESAD-UK 21 30722171 30722171 single base substitution C T intron_variant ESAD-UK 21 30722281 30722281 single base substitution G A downstream_gene_variant ESAD-UK 21 30722281 30722281 single base substitution G A intron_variant ESAD-UK 21 30725948 30725948 insertion of <=200bp - T intron_variant ESAD-UK 21 30726773 30726773 single base substitution A G intron_variant ESAD-UK 21 30728000 30728000 single base substitution C T intron_variant ESAD-UK 21 30729046 30729046 single base substitution T C intron_variant ESAD-UK 21 30731139 30731139 single base substitution A G intron_variant ESAD-UK 21 30731747 30731747 single base substitution C T intron_variant ESAD-UK 21 30732353 30732353 single base substitution G A intron_variant ESAD-UK 21 30733192 30733192 single base substitution A C intron_variant ESAD-UK 21 30734898 30734898 single base substitution C T intron_variant ESAD-UK 21 30735328 30735328 single base substitution G A intron_variant ESAD-UK 21 30736668 30736668 single base substitution C T intron_variant ESAD-UK 21 30739253 30739253 single base substitution A G intron_variant ESAD-UK 21 30739398 30739398 single base substitution C T intron_variant ESAD-UK 21 30740100 30740100 single base substitution A T intron_variant ESAD-UK 21 30740340 30740340 single base substitution C T intron_variant ESAD-UK 21 30744251 30744251 single base substitution G T intron_variant ESAD-UK 21 30744878 30744878 single base substitution A G intron_variant ESAD-UK 21 30746187 30746187 single base substitution G C intron_variant ESAD-UK 21 30746664 30746664 deletion of <=200bp A - intron_variant ESAD-UK 21 30746664 30746664 insertion of <=200bp - A intron_variant ESAD-UK 21 30747264 30747264 single base substitution G A intron_variant ESAD-UK 21 30755683 30755683 single base substitution C G intron_variant ESAD-UK 21 30757741 30757741 deletion of <=200bp T - intron_variant ESAD-UK 21 30761065 30761065 single base substitution C G intron_variant ESAD-UK 21 30762386 30762386 single base substitution T C intron_variant ESAD-UK 21 30763830 30763830 deletion of <=200bp C - intron_variant ESAD-UK 21 30764553 30764553 single base substitution T C intron_variant ESAD-UK 21 30768577 30768577 single base substitution C T intron_variant ESAD-UK 21 30769962 30769962 single base substitution G C intron_variant ESAD-UK 21 30771385 30771385 single base substitution T C intron_variant ESAD-UK 21 30772201 30772201 single base substitution G T intron_variant ESAD-UK 21 30774659 30774659 single base substitution A G intron_variant ESAD-UK 21 30775496 30775496 deletion of <=200bp A - intron_variant ESAD-UK 21 30775496 30775496 single base substitution A C intron_variant ESAD-UK 21 30777342 30777342 single base substitution C T intron_variant ESAD-UK 21 30778027 30778030 deletion of <=200bp CTTT - intron_variant ESAD-UK 21 30780476 30780476 single base substitution C A intron_variant ESAD-UK 21 30781018 30781018 single base substitution A G intron_variant ESAD-UK 21 30782024 30782026 deletion of <=200bp AAG - intron_variant ESAD-UK 21 30783256 30783256 single base substitution G T intron_variant ESAD-UK 21 30784753 30784753 single base substitution C T intron_variant ESAD-UK 21 30785546 30785546 single base substitution C T intron_variant ESAD-UK 21 30785915 30785915 single base substitution C T intron_variant ESAD-UK 21 30787517 30787517 single base substitution A T intron_variant ESAD-UK 21 30789219 30789219 insertion of <=200bp - T intron_variant ESAD-UK 21 30789383 30789383 single base substitution C T intron_variant ESAD-UK 21 30792288 30792288 single base substitution C A intron_variant ESAD-UK 21 30795809 30795809 single base substitution G T intron_variant ESAD-UK 21 30796527 30796527 single base substitution G A intron_variant ESAD-UK 21 30796599 30796599 single base substitution G A intron_variant ESAD-UK 21 30798205 30798205 single base substitution T C intron_variant ESAD-UK 21 30798419 30798419 single base substitution C A intron_variant ESAD-UK 21 30799236 30799236 single base substitution C T intron_variant ESAD-UK 21 30799568 30799568 single base substitution T C intron_variant ESAD-UK 21 30802786 30802786 single base substitution T G intron_variant ESAD-UK 21 30805071 30805071 single base substitution G T intron_variant ESAD-UK 21 30806919 30806919 single base substitution A G intron_variant ESAD-UK 21 30809899 30809899 single base substitution T A intron_variant ESAD-UK 21 30810177 30810177 single base substitution T G intron_variant ESAD-UK 21 30810232 30810232 single base substitution G A intron_variant ESAD-UK 21 30812355 30812355 single base substitution C T intron_variant ESAD-UK 21 30813615 30813615 single base substitution G T intron_variant ESAD-UK 21 30814401 30814401 single base substitution C T intron_variant ESAD-UK 21 30815027 30815027 single base substitution C T intron_variant ESAD-UK 21 30815527 30815527 single base substitution T A intron_variant ESAD-UK 21 30816010 30816010 single base substitution C G intron_variant ESAD-UK 21 30816774 30816774 single base substitution A G intron_variant ESAD-UK 21 30819910 30819910 single base substitution A G intron_variant ESAD-UK 21 30821002 30821002 single base substitution T G intron_variant ESAD-UK 21 30825582 30825582 single base substitution T C intron_variant ESAD-UK 21 30827285 30827285 single base substitution A T intron_variant ESAD-UK 21 30829653 30829653 single base substitution C T intron_variant ESAD-UK 21 30831399 30831399 single base substitution T G intron_variant ESAD-UK 21 30832271 30832271 insertion of <=200bp - G intron_variant ESAD-UK 21 30832714 30832714 single base substitution G A intron_variant ESAD-UK 21 30836156 30836156 single base substitution C T intron_variant ESAD-UK 21 30836157 30836157 single base substitution T C intron_variant ESAD-UK 21 30836157 30836157 single base substitution T G intron_variant ESAD-UK 21 30836249 30836249 single base substitution C G intron_variant ESAD-UK 21 30836505 30836505 single base substitution G A intron_variant ESAD-UK 21 30836822 30836822 single base substitution T A intron_variant ESAD-UK 21 30836854 30836854 single base substitution C A intron_variant ESAD-UK 21 30838811 30838811 single base substitution A G intron_variant ESAD-UK 21 30839921 30839921 single base substitution G A intron_variant ESAD-UK 21 30841122 30841122 single base substitution T C intron_variant ESAD-UK 21 30841368 30841368 single base substitution G A intron_variant ESAD-UK 21 30841395 30841396 deletion of <=200bp TG - intron_variant ESAD-UK 21 30843680 30843680 single base substitution A T intron_variant ESAD-UK 21 30843831 30843831 single base substitution T G intron_variant ESAD-UK 21 30843972 30843972 single base substitution G A intron_variant ESAD-UK 21 30844481 30844481 single base substitution C A intron_variant ESAD-UK 21 30845538 30845538 single base substitution T C intron_variant ESAD-UK 21 30846775 30846775 insertion of <=200bp - ACACACACAA intron_variant ESAD-UK 21 30847851 30847851 single base substitution A G intron_variant ESAD-UK 21 30848947 30848947 single base substitution T G intron_variant ESAD-UK 21 30849464 30849464 single base substitution T G intron_variant ESAD-UK 21 30849465 30849465 insertion of <=200bp - G intron_variant ESAD-UK 21 30850452 30850452 single base substitution A C intron_variant ESAD-UK 21 30852872 30852872 single base substitution T C intron_variant ESAD-UK 21 30854969 30854969 single base substitution G T intron_variant ESAD-UK 21 30855024 30855024 single base substitution C T intron_variant ESAD-UK 21 30855371 30855371 single base substitution C T intron_variant ESAD-UK 21 30856116 30856116 deletion of <=200bp T - intron_variant ESAD-UK 21 30857213 30857213 single base substitution G A intron_variant ESAD-UK 21 30861420 30861420 single base substitution T G intron_variant ESAD-UK 21 30861600 30861600 single base substitution T G intron_variant ESAD-UK 21 30862100 30862100 single base substitution C A intron_variant ESAD-UK 21 30862873 30862873 single base substitution C G intron_variant ESAD-UK 21 30863298 30863298 single base substitution T A intron_variant ESAD-UK 21 30864190 30864190 single base substitution T G intron_variant ESAD-UK 21 30864470 30864470 single base substitution G T intron_variant ESAD-UK 21 30867745 30867745 single base substitution T A intron_variant ESAD-UK 21 30869015 30869015 single base substitution G A intron_variant ESAD-UK 21 30870468 30870468 deletion of <=200bp T - intron_variant ESAD-UK 21 30870509 30870509 single base substitution G A intron_variant ESAD-UK 21 30870746 30870746 single base substitution T A intron_variant ESAD-UK 21 30872173 30872173 single base substitution T G intron_variant ESAD-UK 21 30873689 30873689 single base substitution C T intron_variant ESAD-UK 21 30873737 30873737 single base substitution C T intron_variant ESAD-UK 21 30873867 30873867 single base substitution G C intron_variant ESAD-UK 21 30874250 30874250 single base substitution G C intron_variant ESAD-UK 21 30878966 30878966 insertion of <=200bp - A intron_variant ESAD-UK 21 30879413 30879413 single base substitution A T intron_variant ESAD-UK 21 30883298 30883298 single base substitution G A intron_variant ESAD-UK 21 30884264 30884264 single base substitution G A intron_variant ESAD-UK 21 30885764 30885764 single base substitution A G intron_variant ESAD-UK 21 30886816 30886816 single base substitution T C intron_variant ESAD-UK 21 30888321 30888321 single base substitution A C intron_variant ESAD-UK 21 30888871 30888871 single base substitution A C intron_variant ESAD-UK 21 30889814 30889814 single base substitution T G intron_variant ESAD-UK 21 30890069 30890069 single base substitution G C intron_variant ESAD-UK 21 30891510 30891510 single base substitution C T intron_variant ESAD-UK 21 30891602 30891602 single base substitution C T intron_variant ESAD-UK 21 30892815 30892815 single base substitution T G intron_variant ESAD-UK 21 30893471 30893471 single base substitution C T intron_variant ESAD-UK 21 30893756 30893756 single base substitution G A intron_variant ESAD-UK 21 30896577 30896577 single base substitution T G intron_variant ESAD-UK 21 30896884 30896884 single base substitution A G intron_variant ESAD-UK 21 30898245 30898245 insertion of <=200bp - G intron_variant ESAD-UK 21 30899438 30899438 single base substitution T G intron_variant ESAD-UK 21 30899899 30899899 single base substitution T C intron_variant ESAD-UK 21 30900402 30900402 single base substitution A C intron_variant ESAD-UK 21 30900993 30900993 single base substitution C A intron_variant ESAD-UK 21 30903590 30903590 single base substitution T G intron_variant ESAD-UK 21 30903607 30903607 single base substitution T G intron_variant ESAD-UK 21 30904333 30904333 single base substitution C T intron_variant ESAD-UK 21 30904761 30904761 single base substitution G A intron_variant ESAD-UK 21 30906119 30906119 single base substitution T C intron_variant ESAD-UK 21 30907171 30907171 single base substitution A C intron_variant ESAD-UK 21 30908916 30908916 single base substitution A C intron_variant ESAD-UK 21 30909575 30909575 single base substitution A G intron_variant ESAD-UK 21 30909615 30909615 single base substitution G T intron_variant ESAD-UK 21 30909972 30909972 single base substitution C G intron_variant ESAD-UK 21 30911151 30911151 single base substitution C T intron_variant ESAD-UK 21 30911290 30911290 deletion of <=200bp A - intron_variant ESAD-UK 21 30912900 30912900 deletion of <=200bp G - intron_variant ESAD-UK 21 30915226 30915226 single base substitution A G intron_variant ESAD-UK 21 30916510 30916510 single base substitution T G intron_variant ESAD-UK 21 30916664 30916664 single base substitution G A intron_variant ESAD-UK 21 30916995 30916995 single base substitution T G intron_variant ESAD-UK 21 30917503 30917503 single base substitution T C intron_variant ESAD-UK 21 30918021 30918021 single base substitution T A intron_variant ESAD-UK 21 30918092 30918092 single base substitution G T intron_variant ESAD-UK 21 30918498 30918498 single base substitution T G intron_variant ESAD-UK 21 30918990 30918990 single base substitution C A intron_variant ESAD-UK 21 30919036 30919036 single base substitution T G intron_variant ESAD-UK 21 30919992 30919992 single base substitution A G intron_variant ESAD-UK 21 30920269 30920269 single base substitution G T intron_variant ESAD-UK 21 30921250 30921250 single base substitution A T intron_variant ESAD-UK 21 30921251 30921251 insertion of <=200bp - T intron_variant ESAD-UK 21 30921286 30921286 single base substitution T G intron_variant ESAD-UK 21 30921795 30921795 single base substitution T G intron_variant ESAD-UK 21 30922765 30922765 single base substitution A C intron_variant ESAD-UK 21 30924118 30924118 single base substitution A T intron_variant ESAD-UK 21 30924919 30924919 single base substitution G A intron_variant ESAD-UK 21 30925042 30925042 single base substitution T G intron_variant ESAD-UK 21 30925271 30925271 single base substitution T G intron_variant ESAD-UK 21 30926772 30926772 single base substitution T A intron_variant ESAD-UK 21 30926781 30926781 single base substitution A C intron_variant ESAD-UK 21 30927976 30927976 single base substitution G T intron_variant ESAD-UK 21 30928885 30928885 single base substitution T G intron_variant ESAD-UK 21 30929589 30929589 single base substitution A G intron_variant ESAD-UK 21 30929874 30929874 single base substitution A C intron_variant ESAD-UK 21 30929926 30929926 single base substitution G A intron_variant ESAD-UK 21 30931709 30931709 single base substitution A T intron_variant ESAD-UK 21 30933156 30933156 single base substitution C T intron_variant ESAD-UK 21 30935329 30935329 single base substitution A T intron_variant ESAD-UK 21 30935426 30935426 single base substitution C G intron_variant ESAD-UK 21 30936010 30936010 single base substitution C A intron_variant ESAD-UK 21 30936478 30936478 deletion of <=200bp T - intron_variant ESAD-UK 21 30939230 30939230 single base substitution C G intron_variant ESAD-UK 21 30939630 30939630 single base substitution C T intron_variant ESAD-UK 21 30941539 30941539 single base substitution G A intron_variant ESAD-UK 21 30942064 30942064 single base substitution G T intron_variant ESAD-UK 21 30942315 30942315 single base substitution T A intron_variant ESAD-UK 21 30943442 30943442 single base substitution C T intron_variant ESAD-UK 21 30945092 30945092 single base substitution T C intron_variant ESAD-UK 21 30945952 30945952 single base substitution T G intron_variant ESAD-UK 21 30946442 30946442 single base substitution T C intron_variant ESAD-UK 21 30946650 30946650 single base substitution C T intron_variant ESAD-UK 21 30946789 30946789 single base substitution G T intron_variant ESAD-UK 21 30947443 30947443 single base substitution C A intron_variant ESAD-UK 21 30948032 30948032 single base substitution G A intron_variant ESAD-UK 21 30948205 30948205 insertion of <=200bp - A intron_variant ESAD-UK 21 30948370 30948370 deletion of <=200bp A - intron_variant ESAD-UK 21 30948387 30948387 single base substitution C A intron_variant ESAD-UK 21 30949583 30949583 single base substitution A C intron_variant ESAD-UK 21 30950101 30950101 single base substitution G T intron_variant ESAD-UK 21 30950394 30950394 single base substitution T G intron_variant ESAD-UK 21 30950453 30950453 single base substitution T G intron_variant ESAD-UK 21 30950678 30950678 single base substitution G T intron_variant ESAD-UK 21 30952403 30952403 single base substitution G A intron_variant ESAD-UK 21 30952417 30952417 single base substitution A G intron_variant ESAD-UK 21 30952463 30952463 insertion of <=200bp - AT intron_variant ESAD-UK 21 30952466 30952466 single base substitution T C intron_variant ESAD-UK 21 30952795 30952795 single base substitution G T intron_variant ESAD-UK 21 30953095 30953095 deletion of <=200bp G - intron_variant ESAD-UK 21 30953159 30953159 single base substitution G A intron_variant ESAD-UK 21 30955528 30955528 single base substitution C T intron_variant ESAD-UK 21 30955946 30955946 single base substitution T C intron_variant ESAD-UK 21 30956462 30956462 single base substitution A C intron_variant ESAD-UK 21 30956877 30956877 single base substitution C A intron_variant ESAD-UK 21 30958860 30958860 single base substitution G A intron_variant ESAD-UK 21 30959395 30959395 single base substitution T A intron_variant ESAD-UK 21 30960995 30960995 single base substitution T G intron_variant ESAD-UK 21 30961665 30961665 single base substitution C T intron_variant ESAD-UK 21 30961666 30961666 single base substitution G A intron_variant ESAD-UK 21 30962292 30962292 single base substitution C G intron_variant ESAD-UK 21 30962824 30962824 single base substitution A C intron_variant ESAD-UK 21 30966189 30966189 single base substitution G A intron_variant ESAD-UK 21 30966189 30966189 single base substitution G A upstream_gene_variant ESAD-UK 21 30966280 30966280 single base substitution A T intron_variant ESAD-UK 21 30966280 30966280 single base substitution A T upstream_gene_variant ESAD-UK 21 30967386 30967386 single base substitution C T intron_variant ESAD-UK 21 30967386 30967386 single base substitution C T upstream_gene_variant ESAD-UK 21 30969456 30969456 single base substitution G A intron_variant ESAD-UK 21 30970311 30970311 single base substitution T G intron_variant ESAD-UK 21 30971006 30971009 deletion of <=200bp AAAG - intron_variant ESAD-UK 21 30971816 30971816 single base substitution A C intron_variant ESAD-UK 21 30972404 30972404 deletion of <=200bp A - intron_variant ESAD-UK 21 30973862 30973862 single base substitution C A intron_variant ESAD-UK 21 30973904 30973904 single base substitution C G intron_variant ESAD-UK 21 30974133 30974133 single base substitution G A intron_variant ESAD-UK 21 30974878 30974878 single base substitution T G intron_variant ESAD-UK 21 30975037 30975037 single base substitution A G intron_variant ESAD-UK 21 30975113 30975113 single base substitution G T intron_variant ESAD-UK 21 30975146 30975146 single base substitution G A intron_variant ESAD-UK 21 30976280 30976280 single base substitution G T intron_variant ESAD-UK 21 30976806 30976806 single base substitution T C intron_variant ESAD-UK 21 30977487 30977487 single base substitution A C intron_variant ESAD-UK 21 30977517 30977517 single base substitution T G intron_variant ESAD-UK 21 30977534 30977534 single base substitution C T intron_variant ESAD-UK 21 30979010 30979010 single base substitution C A intron_variant ESAD-UK 21 30979337 30979337 single base substitution A C intron_variant ESAD-UK 21 30979427 30979427 single base substitution A C intron_variant ESAD-UK 21 30979952 30979952 single base substitution A G intron_variant ESAD-UK 21 30980206 30980206 single base substitution T G intron_variant ESAD-UK 21 30980543 30980543 single base substitution G A intron_variant ESAD-UK 21 30981019 30981019 single base substitution T G intron_variant ESAD-UK 21 30981706 30981706 single base substitution G A intron_variant ESAD-UK 21 30982267 30982267 single base substitution A G intron_variant ESAD-UK 21 30982339 30982339 single base substitution A T intron_variant ESAD-UK 21 30982405 30982405 single base substitution C T intron_variant ESAD-UK 21 30983324 30983324 single base substitution T G intron_variant ESAD-UK 21 30984539 30984539 single base substitution C A intron_variant ESAD-UK 21 30984701 30984701 single base substitution T C intron_variant ESAD-UK 21 30984709 30984709 single base substitution T G intron_variant ESAD-UK 21 30985013 30985013 single base substitution A C intron_variant ESAD-UK 21 30985332 30985332 single base substitution T G intron_variant ESAD-UK 21 30985742 30985742 single base substitution C T intron_variant ESAD-UK 21 30987024 30987024 single base substitution C T intron_variant ESAD-UK 21 30988265 30988265 single base substitution A C intron_variant ESAD-UK 21 30988289 30988289 single base substitution A C intron_variant ESAD-UK 21 30988866 30988866 single base substitution A G intron_variant ESAD-UK 21 30989888 30989888 single base substitution G A intron_variant ESAD-UK 21 30991318 30991318 single base substitution C T intron_variant ESAD-UK 21 30991371 30991371 single base substitution A G intron_variant ESAD-UK 21 30991372 30991372 single base substitution G A intron_variant ESAD-UK 21 30991775 30991786 deletion of <=200bp TTCAACGGACTT - intron_variant ESAD-UK 21 30991944 30991944 single base substitution T G intron_variant ESAD-UK 21 30992628 30992628 single base substitution T G intron_variant ESAD-UK 21 30992843 30992843 single base substitution T G intron_variant ESAD-UK 21 30993305 30993305 single base substitution A T intron_variant ESAD-UK 21 30994039 30994039 single base substitution T C intron_variant ESAD-UK 21 30994081 30994081 single base substitution A G intron_variant ESAD-UK 21 30994563 30994563 single base substitution G A intron_variant ESAD-UK 21 30994742 30994742 single base substitution T C intron_variant ESAD-UK 21 30996096 30996096 single base substitution T A intron_variant ESAD-UK 21 30996177 30996177 single base substitution T C intron_variant ESAD-UK 21 30997219 30997219 single base substitution C A intron_variant ESAD-UK 21 30997566 30997566 single base substitution G T intron_variant ESAD-UK 21 30997621 30997621 single base substitution G C intron_variant ESAD-UK 21 30999044 30999044 single base substitution T A intron_variant ESAD-UK 21 30999497 30999497 single base substitution T G intron_variant ESAD-UK 21 31000124 31000124 single base substitution C A intron_variant ESAD-UK 21 31000125 31000125 single base substitution T G intron_variant ESAD-UK 21 31000422 31000422 single base substitution G T intron_variant ESAD-UK 21 31001597 31001597 single base substitution G A intron_variant ESAD-UK 21 31002101 31002101 single base substitution G A intron_variant ESAD-UK 21 31002285 31002285 single base substitution G A intron_variant ESAD-UK 21 31002385 31002385 single base substitution T C intron_variant ESAD-UK 21 31003112 31003112 insertion of <=200bp - T downstream_gene_variant ESAD-UK 21 31003295 31003295 insertion of <=200bp - T downstream_gene_variant ESAD-UK 21 31003360 31003360 single base substitution T G downstream_gene_variant ESAD-UK 21 31005221 31005221 single base substitution G T downstream_gene_variant ESAD-UK 21 31007358 31007358 single base substitution A C downstream_gene_variant ESAD-UK 21 31007975 31007975 single base substitution A G downstream_gene_variant ESAD-UK 21 31007977 31007977 single base substitution T G downstream_gene_variant ESCA-CN 21 30566374 30566374 single base substitution G A upstream_gene_variant ESCA-CN 21 30714924 30714924 single base substitution G C intron_variant ESCA-CN 21 30714924 30714924 single base substitution G C missense_variant D661H 1981G>C ESCA-CN 21 30716742 30716742 single base substitution G C 3_prime_UTR_variant ESCA-CN 21 30716742 30716742 single base substitution G C intron_variant ESCA-CN 21 30959871 30959871 single base substitution G A intron_variant GBM-US 21 30949385 30949385 single base substitution C G intron_variant KIRC-US 21 30693729 30693729 single base substitution A G downstream_gene_variant KIRC-US 21 30693729 30693729 single base substitution A G missense_variant Q43R 128A>G KIRC-US 21 30714928 30714928 single base substitution G T intron_variant KIRC-US 21 30714928 30714928 single base substitution G T missense_variant G662V 1985G>T KIRC-US 21 30714963 30714963 single base substitution G T intron_variant KIRC-US 21 30714963 30714963 single base substitution G T missense_variant D674Y 2020G>T KIRP-US 21 30698866 30698866 deletion of <=200bp A - downstream_gene_variant KIRP-US 21 30698866 30698866 deletion of <=200bp A - frameshift_variant T241 KIRP-US 21 30698866 30698866 deletion of <=200bp A - upstream_gene_variant LAML-KR 21 30607018 30607018 single base substitution T C intron_variant LAML-KR 21 30693995 30693995 single base substitution G T downstream_gene_variant LAML-KR 21 30693995 30693995 single base substitution G T intron_variant LAML-KR 21 30706231 30706231 single base substitution A G intron_variant LAML-KR 21 30819825 30819825 single base substitution A G intron_variant LAML-KR 21 30829868 30829868 single base substitution C G intron_variant LAML-KR 21 30961131 30961131 single base substitution C A intron_variant LAML-KR 21 30962888 30962888 single base substitution C G intron_variant LGG-US 21 30699512 30699513 deletion of <=200bp TA - downstream_gene_variant LGG-US 21 30699512 30699513 deletion of <=200bp TA - frameshift_variant L21 LGG-US 21 30699512 30699513 deletion of <=200bp TA - frameshift_variant L456 LGG-US 21 30699512 30699513 deletion of <=200bp TA - upstream_gene_variant LIAD-FR 21 30693697 30693697 single base substitution G A downstream_gene_variant LIAD-FR 21 30693697 30693697 single base substitution G A synonymous_variant V32V 96G>A LICA-FR 21 30575136 30575136 insertion of <=200bp - AAA intron_variant LICA-FR 21 30577461 30577461 single base substitution A C intron_variant LICA-FR 21 30588936 30588936 single base substitution T A intron_variant LICA-FR 21 30592165 30592165 single base substitution T G intron_variant LICA-FR 21 30624244 30624244 single base substitution A G intron_variant LICA-FR 21 30643665 30643665 single base substitution A T intron_variant LICA-FR 21 30671985 30671985 single base substitution T G intron_variant LICA-FR 21 30671985 30671985 single base substitution T G upstream_gene_variant LICA-FR 21 30673700 30673700 single base substitution G T intron_variant LICA-FR 21 30673700 30673700 single base substitution G T upstream_gene_variant LICA-FR 21 30698571 30698571 deletion of <=200bp A - downstream_gene_variant LICA-FR 21 30698571 30698571 deletion of <=200bp A - frameshift_variant R142 LICA-FR 21 30698571 30698571 deletion of <=200bp A - upstream_gene_variant LICA-FR 21 30701979 30701979 single base substitution T A downstream_gene_variant LICA-FR 21 30701979 30701979 single base substitution T A missense_variant C146S 436T>A LICA-FR 21 30701979 30701979 single base substitution T A missense_variant C581S 1741T>A LICA-FR 21 30701979 30701979 single base substitution T A missense_variant C97S 289T>A LICA-FR 21 30714789 30714789 single base substitution A C intron_variant LICA-FR 21 30714789 30714789 single base substitution A C missense_variant N616H 1846A>C LICA-FR 21 30728865 30728865 single base substitution G T intron_variant LICA-FR 21 30729778 30729778 single base substitution G A intron_variant LICA-FR 21 30740777 30740777 single base substitution A T intron_variant LICA-FR 21 30758830 30758830 single base substitution C T intron_variant LICA-FR 21 30758836 30758836 single base substitution C T intron_variant LICA-FR 21 30765840 30765840 single base substitution A G intron_variant LICA-FR 21 30769044 30769044 single base substitution T G intron_variant LICA-FR 21 30824145 30824145 deletion of <=200bp T - intron_variant LICA-FR 21 30828146 30828146 single base substitution C T intron_variant LICA-FR 21 30911388 30911388 single base substitution A G intron_variant LICA-FR 21 30925923 30925923 single base substitution G A intron_variant LICA-FR 21 30932882 30932882 single base substitution T C intron_variant LICA-FR 21 30946770 30946770 single base substitution A G intron_variant LICA-FR 21 30968868 30968868 single base substitution T G exon_variant LICA-FR 21 30968868 30968868 single base substitution T G intron_variant LICA-FR 21 30998024 30998024 single base substitution T A intron_variant LICA-FR 21 31000307 31000307 single base substitution A G intron_variant LICA-FR 21 31002607 31002607 single base substitution C T intron_variant LIHC-US 21 30699058 30699058 single base substitution G A downstream_gene_variant LIHC-US 21 30699058 30699058 single base substitution G A missense_variant E305K 913G>A LIHC-US 21 30699058 30699058 single base substitution G A upstream_gene_variant LIHC-US 21 30968883 30968883 single base substitution C A exon_variant LIHC-US 21 30968883 30968883 single base substitution C A intron_variant LIHC-US 21 30971254 30971254 single base substitution G T intron_variant LINC-JP 21 30588952 30588952 single base substitution C A intron_variant LINC-JP 21 30596861 30596861 single base substitution T C intron_variant LINC-JP 21 30619740 30619740 single base substitution A G intron_variant LINC-JP 21 30641594 30641594 single base substitution G A intron_variant LINC-JP 21 30654958 30654958 single base substitution G A intron_variant LINC-JP 21 30678410 30678410 single base substitution A G intron_variant LINC-JP 21 30680011 30680011 single base substitution T G intron_variant LINC-JP 21 30680349 30680349 single base substitution A G intron_variant LINC-JP 21 30690506 30690506 single base substitution A G intron_variant LINC-JP 21 30698755 30698755 single base substitution A G downstream_gene_variant LINC-JP 21 30698755 30698755 single base substitution A G missense_variant S204G 610A>G LINC-JP 21 30698755 30698755 single base substitution A G upstream_gene_variant LINC-JP 21 30699108 30699108 single base substitution T A downstream_gene_variant LINC-JP 21 30699108 30699108 single base substitution T A stop_gained Y321* 963T>A LINC-JP 21 30699108 30699108 single base substitution T A upstream_gene_variant LINC-JP 21 30699140 30699140 single base substitution A G downstream_gene_variant LINC-JP 21 30699140 30699140 single base substitution A G missense_variant Y332C 995A>G LINC-JP 21 30699140 30699140 single base substitution A G upstream_gene_variant LINC-JP 21 30701939 30701939 single base substitution C A downstream_gene_variant LINC-JP 21 30701939 30701939 single base substitution C A missense_variant N132K 396C>A LINC-JP 21 30701939 30701939 single base substitution C A missense_variant N567K 1701C>A LINC-JP 21 30701939 30701939 single base substitution C A missense_variant N83K 249C>A LINC-JP 21 30703578 30703578 single base substitution T C downstream_gene_variant LINC-JP 21 30703578 30703578 single base substitution T C intron_variant LINC-JP 21 30704104 30704104 single base substitution T C intron_variant LINC-JP 21 30708619 30708619 single base substitution A G intron_variant LINC-JP 21 30708711 30708711 single base substitution T C intron_variant LINC-JP 21 30723944 30723944 single base substitution T A intron_variant LINC-JP 21 30733253 30733253 single base substitution T A intron_variant LINC-JP 21 30741446 30741446 single base substitution A C intron_variant LINC-JP 21 30752207 30752207 single base substitution A G intron_variant LINC-JP 21 30807636 30807636 single base substitution A C intron_variant LINC-JP 21 30818361 30818361 single base substitution G A intron_variant LINC-JP 21 30833847 30833847 deletion of <=200bp T - intron_variant LINC-JP 21 30855084 30855084 single base substitution A T intron_variant LINC-JP 21 30855633 30855633 single base substitution G C intron_variant LINC-JP 21 30897017 30897017 single base substitution C T intron_variant LINC-JP 21 30905951 30905951 single base substitution A G intron_variant LINC-JP 21 30912650 30912650 single base substitution A C intron_variant LINC-JP 21 30927382 30927382 single base substitution A G intron_variant LINC-JP 21 30927388 30927388 single base substitution A G intron_variant LINC-JP 21 30940044 30940044 single base substitution A G intron_variant LINC-JP 21 30940416 30940416 single base substitution G T intron_variant LINC-JP 21 30943997 30943997 single base substitution A G intron_variant LINC-JP 21 30944464 30944464 single base substitution G T intron_variant LINC-JP 21 30947427 30947427 single base substitution T C intron_variant LINC-JP 21 30949764 30949764 single base substitution A G intron_variant LINC-JP 21 30953820 30953820 single base substitution C G intron_variant LINC-JP 21 30957403 30957403 single base substitution C T intron_variant LINC-JP 21 30960137 30960138 deletion of <=200bp AT - intron_variant LINC-JP 21 30961094 30961094 single base substitution C T intron_variant LINC-JP 21 30963139 30963139 single base substitution A G intron_variant LINC-JP 21 30966208 30966208 single base substitution C T intron_variant LINC-JP 21 30966208 30966208 single base substitution C T upstream_gene_variant LINC-JP 21 30968690 30968690 single base substitution A G exon_variant LINC-JP 21 30968690 30968690 single base substitution A G intron_variant LINC-JP 21 30975201 30975201 single base substitution G T intron_variant LINC-JP 21 30989155 30989155 single base substitution A G intron_variant LINC-JP 21 30994080 30994080 single base substitution A C intron_variant LINC-JP 21 31007487 31007487 single base substitution G A downstream_gene_variant LIRI-JP 21 30561499 30561499 single base substitution A G upstream_gene_variant LIRI-JP 21 30564648 30564648 single base substitution G A upstream_gene_variant LIRI-JP 21 30567714 30567714 single base substitution A G intron_variant LIRI-JP 21 30568405 30568405 single base substitution T C intron_variant LIRI-JP 21 30569155 30569155 single base substitution A G intron_variant LIRI-JP 21 30569347 30569347 single base substitution T C intron_variant LIRI-JP 21 30570221 30570221 single base substitution G A intron_variant LIRI-JP 21 30571520 30571520 single base substitution T A intron_variant LIRI-JP 21 30573156 30573156 single base substitution A G intron_variant LIRI-JP 21 30574351 30574351 single base substitution A G intron_variant LIRI-JP 21 30578972 30578972 single base substitution A T intron_variant LIRI-JP 21 30584141 30584141 single base substitution A T intron_variant LIRI-JP 21 30591118 30591118 single base substitution G T intron_variant LIRI-JP 21 30598579 30598579 single base substitution A G intron_variant LIRI-JP 21 30605976 30605976 single base substitution T C intron_variant LIRI-JP 21 30607253 30607253 single base substitution C A intron_variant LIRI-JP 21 30609032 30609032 single base substitution C T intron_variant LIRI-JP 21 30609047 30609047 single base substitution C T intron_variant LIRI-JP 21 30611004 30611004 single base substitution A G intron_variant LIRI-JP 21 30614351 30614351 single base substitution A G intron_variant LIRI-JP 21 30616407 30616407 single base substitution G A intron_variant LIRI-JP 21 30623975 30623975 single base substitution C T intron_variant LIRI-JP 21 30629149 30629149 single base substitution C T intron_variant LIRI-JP 21 30629988 30629988 single base substitution C T intron_variant LIRI-JP 21 30630246 30630246 single base substitution T G intron_variant LIRI-JP 21 30632232 30632232 single base substitution G A intron_variant LIRI-JP 21 30632813 30632813 single base substitution C A intron_variant LIRI-JP 21 30635746 30635746 single base substitution C T intron_variant LIRI-JP 21 30639348 30639348 single base substitution G A intron_variant LIRI-JP 21 30641065 30641065 single base substitution G C intron_variant LIRI-JP 21 30641840 30641840 single base substitution C T intron_variant LIRI-JP 21 30644509 30644509 single base substitution C T intron_variant LIRI-JP 21 30647319 30647319 single base substitution A G intron_variant LIRI-JP 21 30647702 30647702 single base substitution A T intron_variant LIRI-JP 21 30649402 30649402 single base substitution G A intron_variant LIRI-JP 21 30650822 30650822 single base substitution T C intron_variant LIRI-JP 21 30650942 30650942 single base substitution T C intron_variant LIRI-JP 21 30651694 30651694 single base substitution A G intron_variant LIRI-JP 21 30654451 30654451 single base substitution G A intron_variant LIRI-JP 21 30660525 30660525 single base substitution G A intron_variant LIRI-JP 21 30665621 30665621 single base substitution T C intron_variant LIRI-JP 21 30668082 30668082 single base substitution G A intron_variant LIRI-JP 21 30668082 30668082 single base substitution G A upstream_gene_variant LIRI-JP 21 30672037 30672037 single base substitution A T 5_prime_UTR_variant LIRI-JP 21 30672037 30672037 single base substitution A T intron_variant LIRI-JP 21 30672037 30672037 single base substitution A T upstream_gene_variant LIRI-JP 21 30673592 30673592 single base substitution A G intron_variant LIRI-JP 21 30673592 30673592 single base substitution A G upstream_gene_variant LIRI-JP 21 30674539 30674539 deletion of <=200bp T - intron_variant LIRI-JP 21 30674539 30674539 deletion of <=200bp T - upstream_gene_variant LIRI-JP 21 30674713 30674713 single base substitution C A intron_variant LIRI-JP 21 30674713 30674713 single base substitution C A upstream_gene_variant LIRI-JP 21 30675838 30675838 single base substitution G A intron_variant LIRI-JP 21 30675838 30675838 single base substitution G A upstream_gene_variant LIRI-JP 21 30676532 30676532 single base substitution C T intron_variant LIRI-JP 21 30676532 30676532 single base substitution C T upstream_gene_variant LIRI-JP 21 30677984 30677984 single base substitution A G intron_variant LIRI-JP 21 30679400 30679400 insertion of <=200bp - T intron_variant LIRI-JP 21 30680664 30680664 single base substitution A C intron_variant LIRI-JP 21 30684180 30684180 single base substitution A G intron_variant LIRI-JP 21 30684601 30684601 deletion of <=200bp A - intron_variant LIRI-JP 21 30685294 30685294 single base substitution G A intron_variant LIRI-JP 21 30686588 30686588 single base substitution A G intron_variant LIRI-JP 21 30690720 30690720 single base substitution A G intron_variant LIRI-JP 21 30695047 30695047 single base substitution T A downstream_gene_variant LIRI-JP 21 30695047 30695047 single base substitution T A intron_variant LIRI-JP 21 30695047 30695047 single base substitution T A upstream_gene_variant LIRI-JP 21 30697152 30697152 single base substitution T G downstream_gene_variant LIRI-JP 21 30697152 30697152 single base substitution T G intron_variant LIRI-JP 21 30697152 30697152 single base substitution T G upstream_gene_variant LIRI-JP 21 30699039 30699039 single base substitution G C downstream_gene_variant LIRI-JP 21 30699039 30699039 single base substitution G C missense_variant Q298H 894G>C LIRI-JP 21 30699039 30699039 single base substitution G C upstream_gene_variant LIRI-JP 21 30699842 30699842 single base substitution A G downstream_gene_variant LIRI-JP 21 30699842 30699842 single base substitution A G intron_variant LIRI-JP 21 30700393 30700394 deletion of <=200bp AC - downstream_gene_variant LIRI-JP 21 30700393 30700394 deletion of <=200bp AC - intron_variant LIRI-JP 21 30704959 30704959 single base substitution C A intron_variant LIRI-JP 21 30705098 30705098 single base substitution C A intron_variant LIRI-JP 21 30706107 30706107 single base substitution T C intron_variant LIRI-JP 21 30706836 30706863 deletion of <=200bp AGATTAATTCAGAAGTTAGAAAATATAC - intron_variant LIRI-JP 21 30706849 30706849 single base substitution A G intron_variant LIRI-JP 21 30708709 30708709 single base substitution A G intron_variant LIRI-JP 21 30711026 30711026 single base substitution T C intron_variant LIRI-JP 21 30711687 30711687 single base substitution A G intron_variant LIRI-JP 21 30716292 30716292 single base substitution C T 3_prime_UTR_variant LIRI-JP 21 30716292 30716292 single base substitution C T intron_variant LIRI-JP 21 30718056 30718056 single base substitution G A 3_prime_UTR_variant LIRI-JP 21 30718056 30718056 single base substitution G A intron_variant LIRI-JP 21 30719761 30719761 single base substitution C A downstream_gene_variant LIRI-JP 21 30719761 30719761 single base substitution C A intron_variant LIRI-JP 21 30721372 30721372 single base substitution G A downstream_gene_variant LIRI-JP 21 30721372 30721372 single base substitution G A intron_variant LIRI-JP 21 30730083 30730083 single base substitution C A intron_variant LIRI-JP 21 30730229 30730229 single base substitution C T intron_variant LIRI-JP 21 30731573 30731573 single base substitution T C intron_variant LIRI-JP 21 30732904 30732904 single base substitution G A intron_variant LIRI-JP 21 30736372 30736372 single base substitution C T intron_variant LIRI-JP 21 30737079 30737079 single base substitution G T intron_variant LIRI-JP 21 30738069 30738071 deletion of <=200bp TCT - intron_variant LIRI-JP 21 30739048 30739048 single base substitution T C intron_variant LIRI-JP 21 30741115 30741115 single base substitution C A intron_variant LIRI-JP 21 30742092 30742092 single base substitution G A intron_variant LIRI-JP 21 30742460 30742460 single base substitution C T intron_variant LIRI-JP 21 30743201 30743201 single base substitution G A intron_variant LIRI-JP 21 30743946 30743946 single base substitution G C intron_variant LIRI-JP 21 30744829 30744829 single base substitution G A intron_variant LIRI-JP 21 30745111 30745111 single base substitution C T intron_variant LIRI-JP 21 30748742 30748742 single base substitution C T intron_variant LIRI-JP 21 30749253 30749253 single base substitution C G intron_variant LIRI-JP 21 30751605 30751605 single base substitution A G intron_variant LIRI-JP 21 30752655 30752655 deletion of <=200bp T - intron_variant LIRI-JP 21 30753524 30753524 single base substitution A G intron_variant LIRI-JP 21 30754870 30754870 single base substitution A G intron_variant LIRI-JP 21 30757442 30757442 single base substitution T G intron_variant LIRI-JP 21 30758295 30758295 single base substitution A T intron_variant LIRI-JP 21 30761008 30761008 single base substitution A G intron_variant LIRI-JP 21 30766793 30766793 single base substitution C T intron_variant LIRI-JP 21 30768853 30768853 single base substitution T C intron_variant LIRI-JP 21 30776644 30776644 single base substitution C T intron_variant LIRI-JP 21 30782382 30782382 single base substitution T G intron_variant LIRI-JP 21 30784580 30784580 single base substitution C G intron_variant LIRI-JP 21 30786273 30786273 single base substitution C A intron_variant LIRI-JP 21 30790330 30790330 single base substitution G A intron_variant LIRI-JP 21 30795923 30795923 single base substitution A G intron_variant LIRI-JP 21 30795944 30795944 single base substitution A C intron_variant LIRI-JP 21 30797393 30797393 single base substitution A C intron_variant LIRI-JP 21 30798546 30798546 single base substitution A G intron_variant LIRI-JP 21 30800213 30800213 single base substitution G C intron_variant LIRI-JP 21 30805223 30805223 single base substitution A G intron_variant LIRI-JP 21 30805856 30805856 single base substitution C G intron_variant LIRI-JP 21 30807162 30807162 single base substitution G T intron_variant LIRI-JP 21 30807295 30807295 single base substitution G A intron_variant LIRI-JP 21 30808081 30808081 single base substitution T A intron_variant LIRI-JP 21 30809613 30809613 single base substitution A G intron_variant LIRI-JP 21 30809695 30809695 single base substitution A G intron_variant LIRI-JP 21 30811711 30811711 single base substitution A C intron_variant LIRI-JP 21 30812303 30812303 single base substitution A T intron_variant LIRI-JP 21 30814762 30814762 single base substitution A G intron_variant LIRI-JP 21 30814911 30814911 single base substitution G T intron_variant LIRI-JP 21 30815850 30815850 single base substitution A G intron_variant LIRI-JP 21 30817322 30817322 single base substitution A T intron_variant LIRI-JP 21 30817949 30817949 single base substitution G T intron_variant LIRI-JP 21 30818087 30818087 single base substitution C T intron_variant LIRI-JP 21 30819577 30819577 single base substitution A C intron_variant LIRI-JP 21 30819945 30819945 single base substitution C T intron_variant LIRI-JP 21 30820554 30820554 single base substitution A G intron_variant LIRI-JP 21 30822185 30822185 single base substitution T G intron_variant LIRI-JP 21 30826200 30826200 single base substitution A G intron_variant LIRI-JP 21 30826692 30826692 single base substitution A T intron_variant LIRI-JP 21 30827265 30827265 single base substitution T A intron_variant LIRI-JP 21 30827415 30827415 single base substitution C T intron_variant LIRI-JP 21 30828020 30828020 single base substitution G A intron_variant LIRI-JP 21 30828330 30828330 single base substitution G A intron_variant LIRI-JP 21 30829392 30829392 single base substitution G A intron_variant LIRI-JP 21 30830033 30830033 single base substitution G T intron_variant LIRI-JP 21 30831007 30831007 single base substitution A G intron_variant LIRI-JP 21 30834430 30834430 single base substitution A G intron_variant LIRI-JP 21 30836216 30836216 single base substitution A G intron_variant LIRI-JP 21 30837516 30837516 single base substitution C T intron_variant LIRI-JP 21 30842005 30842005 single base substitution A G intron_variant LIRI-JP 21 30842405 30842405 single base substitution G A intron_variant LIRI-JP 21 30842830 30842830 single base substitution A T intron_variant LIRI-JP 21 30842845 30842845 deletion of <=200bp G - intron_variant LIRI-JP 21 30851823 30851823 single base substitution A G intron_variant LIRI-JP 21 30855077 30855085 deletion of <=200bp TAGGCACAC - intron_variant LIRI-JP 21 30855828 30855828 single base substitution A G intron_variant LIRI-JP 21 30859150 30859150 single base substitution A G intron_variant LIRI-JP 21 30859552 30859552 single base substitution C T intron_variant LIRI-JP 21 30861522 30861522 single base substitution A C intron_variant LIRI-JP 21 30861635 30861635 single base substitution C T intron_variant LIRI-JP 21 30861814 30861814 deletion of <=200bp A - intron_variant LIRI-JP 21 30861839 30861839 single base substitution G A intron_variant LIRI-JP 21 30864201 30864201 single base substitution T G intron_variant LIRI-JP 21 30865288 30865288 single base substitution G T intron_variant LIRI-JP 21 30868053 30868053 single base substitution C T intron_variant LIRI-JP 21 30872959 30872959 single base substitution G T intron_variant LIRI-JP 21 30874664 30874664 single base substitution G T intron_variant LIRI-JP 21 30875217 30875217 single base substitution A C intron_variant LIRI-JP 21 30877165 30877165 single base substitution C G intron_variant LIRI-JP 21 30886165 30886165 single base substitution G A intron_variant LIRI-JP 21 30886350 30886350 single base substitution A T intron_variant LIRI-JP 21 30886887 30886887 single base substitution G C intron_variant LIRI-JP 21 30887008 30887008 single base substitution A G intron_variant LIRI-JP 21 30888668 30888668 single base substitution G T intron_variant LIRI-JP 21 30888953 30888953 single base substitution C A intron_variant LIRI-JP 21 30895201 30895201 single base substitution T C intron_variant LIRI-JP 21 30898380 30898380 single base substitution A G intron_variant LIRI-JP 21 30898559 30898559 single base substitution G A intron_variant LIRI-JP 21 30898947 30898947 single base substitution G A intron_variant LIRI-JP 21 30900591 30900591 single base substitution C T intron_variant LIRI-JP 21 30901329 30901329 single base substitution A G intron_variant LIRI-JP 21 30902919 30902919 single base substitution T A intron_variant LIRI-JP 21 30903087 30903087 single base substitution A G intron_variant LIRI-JP 21 30903444 30903444 single base substitution A G intron_variant LIRI-JP 21 30904072 30904072 single base substitution T C intron_variant LIRI-JP 21 30905472 30905472 single base substitution G T intron_variant LIRI-JP 21 30908142 30908142 single base substitution C A intron_variant LIRI-JP 21 30909100 30909100 single base substitution A G intron_variant LIRI-JP 21 30909482 30909482 single base substitution C T intron_variant LIRI-JP 21 30910232 30910232 single base substitution A G intron_variant LIRI-JP 21 30913681 30913681 single base substitution G T intron_variant LIRI-JP 21 30914728 30914731 deletion of <=200bp TCCT - intron_variant LIRI-JP 21 30914751 30914754 deletion of <=200bp TGGA - intron_variant LIRI-JP 21 30915311 30915311 single base substitution A G intron_variant LIRI-JP 21 30916732 30916732 single base substitution G A intron_variant LIRI-JP 21 30920404 30920404 single base substitution A G intron_variant LIRI-JP 21 30922358 30922358 single base substitution G T intron_variant LIRI-JP 21 30923065 30923065 single base substitution A C intron_variant LIRI-JP 21 30925191 30925191 single base substitution G T intron_variant LIRI-JP 21 30925956 30925956 single base substitution A T intron_variant LIRI-JP 21 30928064 30928064 single base substitution A T intron_variant LIRI-JP 21 30928113 30928113 single base substitution C T intron_variant LIRI-JP 21 30928343 30928343 single base substitution A G intron_variant LIRI-JP 21 30928353 30928353 single base substitution A G intron_variant LIRI-JP 21 30934742 30934742 single base substitution G A intron_variant LIRI-JP 21 30934936 30934936 single base substitution A T intron_variant LIRI-JP 21 30937581 30937581 single base substitution A C intron_variant LIRI-JP 21 30937826 30937826 single base substitution C T intron_variant LIRI-JP 21 30942595 30942595 single base substitution G A intron_variant LIRI-JP 21 30943339 30943339 deletion of <=200bp C - intron_variant LIRI-JP 21 30944218 30944218 single base substitution A T intron_variant LIRI-JP 21 30948469 30948469 single base substitution A G intron_variant LIRI-JP 21 30949416 30949416 single base substitution G T intron_variant LIRI-JP 21 30949563 30949563 single base substitution A T intron_variant LIRI-JP 21 30950827 30950827 single base substitution G A intron_variant LIRI-JP 21 30950913 30950913 single base substitution A G intron_variant LIRI-JP 21 30952740 30952740 single base substitution G A intron_variant LIRI-JP 21 30953111 30953111 single base substitution A G intron_variant LIRI-JP 21 30954779 30954779 single base substitution C A intron_variant LIRI-JP 21 30956179 30956179 single base substitution A G intron_variant LIRI-JP 21 30958170 30958170 insertion of <=200bp - T intron_variant LIRI-JP 21 30958597 30958597 single base substitution A G intron_variant LIRI-JP 21 30959455 30959455 single base substitution A G intron_variant LIRI-JP 21 30960063 30960064 deletion of <=200bp TA - intron_variant LIRI-JP 21 30960123 30960124 deletion of <=200bp AT - intron_variant LIRI-JP 21 30960137 30960138 deletion of <=200bp AT - intron_variant LIRI-JP 21 30963281 30963281 single base substitution A T intron_variant LIRI-JP 21 30964481 30964481 single base substitution G T intron_variant LIRI-JP 21 30964481 30964481 single base substitution G T upstream_gene_variant LIRI-JP 21 30967234 30967234 single base substitution A G intron_variant LIRI-JP 21 30967234 30967234 single base substitution A G upstream_gene_variant LIRI-JP 21 30970748 30970748 single base substitution A G intron_variant LIRI-JP 21 30972424 30972424 single base substitution A G intron_variant LIRI-JP 21 30972693 30972693 single base substitution A G intron_variant LIRI-JP 21 30975047 30975047 single base substitution C T intron_variant LIRI-JP 21 30976324 30976324 single base substitution A G intron_variant LIRI-JP 21 30976504 30976504 single base substitution G A intron_variant LIRI-JP 21 30976858 30976858 single base substitution G T intron_variant LIRI-JP 21 30976879 30976879 single base substitution G T intron_variant LIRI-JP 21 30977119 30977119 single base substitution C G intron_variant LIRI-JP 21 30985169 30985169 single base substitution A C intron_variant LIRI-JP 21 30988347 30988347 single base substitution A G intron_variant LIRI-JP 21 30992538 30992538 single base substitution C T intron_variant LIRI-JP 21 30993055 30993055 single base substitution T C intron_variant LIRI-JP 21 30993686 30993686 single base substitution T G intron_variant LIRI-JP 21 30994259 30994259 single base substitution A G intron_variant LIRI-JP 21 30994394 30994394 single base substitution G A intron_variant LIRI-JP 21 30996244 30996244 single base substitution T C intron_variant LIRI-JP 21 30998640 30998640 single base substitution T C intron_variant LIRI-JP 21 30999998 30999998 single base substitution G A intron_variant LIRI-JP 21 31002169 31002169 single base substitution C A intron_variant LIRI-JP 21 31004591 31004591 single base substitution A T downstream_gene_variant LIRI-JP 21 31005050 31005050 single base substitution G T downstream_gene_variant LIRI-JP 21 31005115 31005115 single base substitution C T downstream_gene_variant LIRI-JP 21 31006308 31006308 deletion of <=200bp G - downstream_gene_variant LIRI-JP 21 31007219 31007219 single base substitution C A downstream_gene_variant LUSC-KR 21 30566374 30566374 single base substitution G A upstream_gene_variant LUSC-KR 21 30567191 30567191 single base substitution C G intron_variant LUSC-KR 21 30569489 30569489 single base substitution T C intron_variant LUSC-KR 21 30569800 30569800 single base substitution C A intron_variant LUSC-KR 21 30573235 30573235 single base substitution A T intron_variant LUSC-KR 21 30580369 30580369 single base substitution T G intron_variant LUSC-KR 21 30586112 30586112 single base substitution C G intron_variant LUSC-KR 21 30596652 30596652 single base substitution G A intron_variant LUSC-KR 21 30597651 30597651 single base substitution A C intron_variant LUSC-KR 21 30604441 30604441 single base substitution A T intron_variant LUSC-KR 21 30607014 30607014 single base substitution C A intron_variant LUSC-KR 21 30612568 30612568 single base substitution A G intron_variant LUSC-KR 21 30614656 30614656 single base substitution G A intron_variant LUSC-KR 21 30615090 30615090 single base substitution G T intron_variant LUSC-KR 21 30616632 30616632 single base substitution G A intron_variant LUSC-KR 21 30621412 30621412 single base substitution G C intron_variant LUSC-KR 21 30624845 30624845 single base substitution C A intron_variant LUSC-KR 21 30637786 30637786 single base substitution G A intron_variant LUSC-KR 21 30638307 30638307 single base substitution T C intron_variant LUSC-KR 21 30642342 30642342 single base substitution C G intron_variant LUSC-KR 21 30642530 30642530 single base substitution C G intron_variant LUSC-KR 21 30646259 30646259 single base substitution G C intron_variant LUSC-KR 21 30661035 30661035 single base substitution C T intron_variant LUSC-KR 21 30665029 30665029 single base substitution C A intron_variant LUSC-KR 21 30669139 30669139 single base substitution C A intron_variant LUSC-KR 21 30669139 30669139 single base substitution C A upstream_gene_variant LUSC-KR 21 30672322 30672322 single base substitution T A intron_variant LUSC-KR 21 30672322 30672322 single base substitution T A upstream_gene_variant LUSC-KR 21 30676465 30676465 single base substitution G T intron_variant LUSC-KR 21 30676465 30676465 single base substitution G T upstream_gene_variant LUSC-KR 21 30682394 30682394 single base substitution C G intron_variant LUSC-KR 21 30687198 30687198 single base substitution G C intron_variant LUSC-KR 21 30694598 30694598 single base substitution C T downstream_gene_variant LUSC-KR 21 30694598 30694598 single base substitution C T intron_variant LUSC-KR 21 30694598 30694598 single base substitution C T upstream_gene_variant LUSC-KR 21 30694727 30694727 single base substitution A G downstream_gene_variant LUSC-KR 21 30694727 30694727 single base substitution A G intron_variant LUSC-KR 21 30694727 30694727 single base substitution A G upstream_gene_variant LUSC-KR 21 30697713 30697713 single base substitution G C downstream_gene_variant LUSC-KR 21 30697713 30697713 single base substitution G C intron_variant LUSC-KR 21 30697713 30697713 single base substitution G C upstream_gene_variant LUSC-KR 21 30704337 30704337 single base substitution T C intron_variant LUSC-KR 21 30705270 30705270 single base substitution A G intron_variant LUSC-KR 21 30714246 30714246 single base substitution A G intron_variant LUSC-KR 21 30714476 30714476 single base substitution G A intron_variant LUSC-KR 21 30716983 30716983 single base substitution G A 3_prime_UTR_variant LUSC-KR 21 30716983 30716983 single base substitution G A intron_variant LUSC-KR 21 30718252 30718252 single base substitution A G 3_prime_UTR_variant LUSC-KR 21 30718252 30718252 single base substitution A G intron_variant LUSC-KR 21 30719662 30719662 single base substitution G T downstream_gene_variant LUSC-KR 21 30719662 30719662 single base substitution G T intron_variant LUSC-KR 21 30727291 30727291 single base substitution G T intron_variant LUSC-KR 21 30731675 30731675 single base substitution A T intron_variant LUSC-KR 21 30736116 30736116 single base substitution C T intron_variant LUSC-KR 21 30741194 30741194 single base substitution G T intron_variant LUSC-KR 21 30741266 30741266 single base substitution C T intron_variant LUSC-KR 21 30748482 30748482 single base substitution C A intron_variant LUSC-KR 21 30755455 30755455 single base substitution A C intron_variant LUSC-KR 21 30758254 30758254 single base substitution C T intron_variant LUSC-KR 21 30761364 30761364 single base substitution C T intron_variant LUSC-KR 21 30763661 30763661 single base substitution C G intron_variant LUSC-KR 21 30763710 30763710 single base substitution C T intron_variant LUSC-KR 21 30765609 30765609 single base substitution G A intron_variant LUSC-KR 21 30769556 30769556 single base substitution G T intron_variant LUSC-KR 21 30774546 30774546 single base substitution G T intron_variant LUSC-KR 21 30778099 30778099 single base substitution C T intron_variant LUSC-KR 21 30781891 30781891 single base substitution A T intron_variant LUSC-KR 21 30784709 30784709 single base substitution G A intron_variant LUSC-KR 21 30787175 30787175 single base substitution G A intron_variant LUSC-KR 21 30787176 30787176 single base substitution G T intron_variant LUSC-KR 21 30793436 30793436 single base substitution T G intron_variant LUSC-KR 21 30794077 30794077 single base substitution G A intron_variant LUSC-KR 21 30794098 30794098 single base substitution A T intron_variant LUSC-KR 21 30795762 30795762 single base substitution A G intron_variant LUSC-KR 21 30804445 30804445 single base substitution G A intron_variant LUSC-KR 21 30813412 30813412 single base substitution G T intron_variant LUSC-KR 21 30815551 30815551 single base substitution G T intron_variant LUSC-KR 21 30819825 30819825 single base substitution A G intron_variant LUSC-KR 21 30823263 30823263 single base substitution G A intron_variant LUSC-KR 21 30826469 30826469 single base substitution G T intron_variant LUSC-KR 21 30827598 30827598 single base substitution C A intron_variant LUSC-KR 21 30838121 30838121 single base substitution A T intron_variant LUSC-KR 21 30845554 30845554 single base substitution C T intron_variant LUSC-KR 21 30847192 30847192 single base substitution C G intron_variant LUSC-KR 21 30850627 30850627 single base substitution G C intron_variant LUSC-KR 21 30854694 30854694 single base substitution G T intron_variant LUSC-KR 21 30856838 30856838 single base substitution A G intron_variant LUSC-KR 21 30859161 30859161 single base substitution C T intron_variant LUSC-KR 21 30862241 30862241 single base substitution C G intron_variant LUSC-KR 21 30864179 30864179 single base substitution G C intron_variant LUSC-KR 21 30866205 30866205 single base substitution T C intron_variant LUSC-KR 21 30872289 30872289 single base substitution G T intron_variant LUSC-KR 21 30875787 30875787 single base substitution G C intron_variant LUSC-KR 21 30881336 30881336 single base substitution C G intron_variant LUSC-KR 21 30881407 30881407 single base substitution C G intron_variant LUSC-KR 21 30881444 30881444 single base substitution G T intron_variant LUSC-KR 21 30886923 30886923 single base substitution A T intron_variant LUSC-KR 21 30889227 30889227 single base substitution G T intron_variant LUSC-KR 21 30890627 30890627 single base substitution C G intron_variant LUSC-KR 21 30892438 30892438 single base substitution G T intron_variant LUSC-KR 21 30895825 30895825 single base substitution A G intron_variant LUSC-KR 21 30898442 30898442 single base substitution A G intron_variant LUSC-KR 21 30899133 30899133 single base substitution G T intron_variant LUSC-KR 21 30903338 30903338 single base substitution G T intron_variant LUSC-KR 21 30903400 30903400 single base substitution G C intron_variant LUSC-KR 21 30908720 30908720 single base substitution C G intron_variant LUSC-KR 21 30910497 30910497 single base substitution C G intron_variant LUSC-KR 21 30912657 30912657 single base substitution G T intron_variant LUSC-KR 21 30919425 30919425 single base substitution C T intron_variant LUSC-KR 21 30923803 30923803 single base substitution G A intron_variant LUSC-KR 21 30924613 30924613 single base substitution G C intron_variant LUSC-KR 21 30924632 30924632 single base substitution T G intron_variant LUSC-KR 21 30932678 30932678 single base substitution T C intron_variant LUSC-KR 21 30932725 30932725 single base substitution T C intron_variant LUSC-KR 21 30935714 30935714 single base substitution G C intron_variant LUSC-KR 21 30945251 30945251 single base substitution G T intron_variant LUSC-KR 21 30948423 30948423 single base substitution G T intron_variant LUSC-KR 21 30949120 30949120 single base substitution A T intron_variant LUSC-KR 21 30949312 30949312 single base substitution C G intron_variant LUSC-KR 21 30952097 30952097 single base substitution G C intron_variant LUSC-KR 21 30955875 30955875 single base substitution C G intron_variant LUSC-KR 21 30957940 30957940 single base substitution C A intron_variant LUSC-KR 21 30959997 30959997 single base substitution C A intron_variant LUSC-KR 21 30960320 30960320 single base substitution A G intron_variant LUSC-KR 21 30961131 30961131 single base substitution C A intron_variant LUSC-KR 21 30963590 30963590 single base substitution G T intron_variant LUSC-KR 21 30963590 30963590 single base substitution G T upstream_gene_variant LUSC-KR 21 30966753 30966753 single base substitution G C intron_variant LUSC-KR 21 30966753 30966753 single base substitution G C upstream_gene_variant LUSC-KR 21 30967332 30967332 single base substitution G T intron_variant LUSC-KR 21 30967332 30967332 single base substitution G T upstream_gene_variant LUSC-KR 21 30969098 30969098 single base substitution G T intron_variant LUSC-KR 21 30969098 30969098 single base substitution G T splice_region_variant LUSC-KR 21 30969131 30969131 single base substitution A T intron_variant LUSC-KR 21 30971183 30971183 single base substitution G A intron_variant LUSC-KR 21 30972424 30972424 single base substitution A G intron_variant LUSC-KR 21 30976639 30976639 single base substitution G A intron_variant LUSC-KR 21 30982541 30982541 single base substitution G C intron_variant LUSC-KR 21 30990112 30990112 single base substitution G T intron_variant LUSC-KR 21 30992164 30992164 single base substitution C T intron_variant LUSC-KR 21 30993915 30993915 single base substitution C A intron_variant LUSC-KR 21 30994032 30994032 single base substitution G C intron_variant LUSC-KR 21 30994284 30994284 single base substitution G T intron_variant LUSC-KR 21 30997429 30997429 single base substitution G A intron_variant LUSC-KR 21 30997473 30997473 single base substitution C A intron_variant LUSC-KR 21 31001478 31001478 single base substitution A G intron_variant LUSC-KR 21 31007942 31007942 single base substitution G T downstream_gene_variant LUSC-US 21 30698598 30698598 single base substitution G T downstream_gene_variant LUSC-US 21 30698598 30698598 single base substitution G T missense_variant Q151H 453G>T LUSC-US 21 30698598 30698598 single base substitution G T upstream_gene_variant LUSC-US 21 30909641 30909641 single base substitution C G intron_variant LUSC-US 21 30925892 30925892 single base substitution G A intron_variant MALY-DE 21 30562648 30562648 single base substitution G C upstream_gene_variant MALY-DE 21 30568528 30568528 single base substitution T G intron_variant MALY-DE 21 30586627 30586627 single base substitution G A intron_variant MALY-DE 21 30593889 30593889 single base substitution G T intron_variant MALY-DE 21 30598506 30598506 single base substitution G A intron_variant MALY-DE 21 30600507 30600507 single base substitution A G intron_variant MALY-DE 21 30602683 30602683 single base substitution T C intron_variant MALY-DE 21 30604357 30604369 deletion of <=200bp TCTGCAAAATATT - intron_variant MALY-DE 21 30617889 30617889 single base substitution T C intron_variant MALY-DE 21 30622321 30622321 deletion of <=200bp T - intron_variant MALY-DE 21 30624864 30624864 single base substitution A G intron_variant MALY-DE 21 30629743 30629743 single base substitution T C intron_variant MALY-DE 21 30629926 30629926 single base substitution T A intron_variant MALY-DE 21 30629954 30629954 single base substitution T G intron_variant MALY-DE 21 30632598 30632599 deletion of <=200bp GA - intron_variant MALY-DE 21 30632962 30632962 single base substitution C T intron_variant MALY-DE 21 30635031 30635033 deletion of <=200bp CCA - intron_variant MALY-DE 21 30635864 30635864 single base substitution T G intron_variant MALY-DE 21 30639363 30639363 single base substitution T C intron_variant MALY-DE 21 30655131 30655131 single base substitution A C intron_variant MALY-DE 21 30676513 30676513 single base substitution C T intron_variant MALY-DE 21 30676513 30676513 single base substitution C T upstream_gene_variant MALY-DE 21 30678025 30678025 single base substitution T C intron_variant MALY-DE 21 30678662 30678662 single base substitution A C intron_variant MALY-DE 21 30679833 30679833 single base substitution C T intron_variant MALY-DE 21 30683015 30683015 single base substitution G C intron_variant MALY-DE 21 30687956 30687956 single base substitution C T intron_variant MALY-DE 21 30694228 30694228 single base substitution T A downstream_gene_variant MALY-DE 21 30694228 30694228 single base substitution T A intron_variant MALY-DE 21 30702870 30702870 single base substitution T C downstream_gene_variant MALY-DE 21 30702870 30702870 single base substitution T C intron_variant MALY-DE 21 30710307 30710317 deletion of <=200bp CACTAACATGG - intron_variant MALY-DE 21 30711892 30711892 single base substitution A T intron_variant MALY-DE 21 30714966 30714966 single base substitution C T intron_variant MALY-DE 21 30714966 30714966 single base substitution C T missense_variant R675W 2023C>T MALY-DE 21 30715907 30715907 single base substitution C T 3_prime_UTR_variant MALY-DE 21 30715907 30715907 single base substitution C T intron_variant MALY-DE 21 30718534 30718534 single base substitution T A downstream_gene_variant MALY-DE 21 30718534 30718534 single base substitution T A intron_variant MALY-DE 21 30737874 30737874 insertion of <=200bp - A intron_variant MALY-DE 21 30744438 30744438 single base substitution G A intron_variant MALY-DE 21 30750389 30750389 single base substitution A C intron_variant MALY-DE 21 30751478 30751478 single base substitution C T intron_variant MALY-DE 21 30757470 30757470 single base substitution T C intron_variant MALY-DE 21 30767120 30767120 single base substitution A T intron_variant MALY-DE 21 30767269 30767269 single base substitution G T intron_variant MALY-DE 21 30775808 30775808 single base substitution T C intron_variant MALY-DE 21 30786773 30786773 single base substitution C A intron_variant MALY-DE 21 30789468 30789468 single base substitution T C intron_variant MALY-DE 21 30789582 30789582 single base substitution T A intron_variant MALY-DE 21 30797258 30797258 single base substitution A G intron_variant MALY-DE 21 30797587 30797587 single base substitution A C intron_variant MALY-DE 21 30797690 30797690 single base substitution A G intron_variant MALY-DE 21 30797725 30797725 single base substitution A G intron_variant MALY-DE 21 30797746 30797746 single base substitution A C intron_variant MALY-DE 21 30803129 30803129 single base substitution G A intron_variant MALY-DE 21 30804171 30804171 single base substitution A G intron_variant MALY-DE 21 30810249 30810249 deletion of <=200bp T - intron_variant MALY-DE 21 30813705 30813707 deletion of <=200bp AAG - intron_variant MALY-DE 21 30815517 30815517 insertion of <=200bp - T intron_variant MALY-DE 21 30818087 30818087 single base substitution C T intron_variant MALY-DE 21 30819881 30819881 single base substitution A G intron_variant MALY-DE 21 30827079 30827079 single base substitution A C intron_variant MALY-DE 21 30831648 30831648 single base substitution C A intron_variant MALY-DE 21 30842874 30842874 single base substitution G A intron_variant MALY-DE 21 30858350 30858350 single base substitution A G intron_variant MALY-DE 21 30863355 30863355 single base substitution A T intron_variant MALY-DE 21 30866558 30866558 single base substitution T G intron_variant MALY-DE 21 30884483 30884483 single base substitution T G intron_variant MALY-DE 21 30884497 30884497 deletion of <=200bp A - intron_variant MALY-DE 21 30886081 30886081 single base substitution G C intron_variant MALY-DE 21 30887088 30887088 single base substitution C T intron_variant MALY-DE 21 30890895 30890895 single base substitution T C intron_variant MALY-DE 21 30891233 30891233 single base substitution A G intron_variant MALY-DE 21 30902181 30902181 single base substitution G T intron_variant MALY-DE 21 30908962 30908962 single base substitution T A intron_variant MALY-DE 21 30920514 30920514 single base substitution G T intron_variant MALY-DE 21 30921814 30921814 single base substitution C T intron_variant MALY-DE 21 30923155 30923155 single base substitution T G intron_variant MALY-DE 21 30924165 30924165 single base substitution C A intron_variant MALY-DE 21 30925633 30925633 single base substitution A C intron_variant MALY-DE 21 30926035 30926035 single base substitution A C intron_variant MALY-DE 21 30926038 30926038 single base substitution A G intron_variant MALY-DE 21 30940281 30940281 single base substitution T A intron_variant MALY-DE 21 30942153 30942153 single base substitution T A intron_variant MALY-DE 21 30943882 30943882 single base substitution G T intron_variant MALY-DE 21 30946958 30946958 single base substitution A G intron_variant MALY-DE 21 30952329 30952329 single base substitution A G intron_variant MALY-DE 21 30952641 30952641 single base substitution A G intron_variant MALY-DE 21 30957404 30957404 single base substitution G A intron_variant MALY-DE 21 30960270 30960270 single base substitution A C intron_variant MALY-DE 21 30964381 30964381 insertion of <=200bp - T intron_variant MALY-DE 21 30964381 30964381 insertion of <=200bp - T upstream_gene_variant MALY-DE 21 30966735 30966735 single base substitution G A intron_variant MALY-DE 21 30966735 30966735 single base substitution G A upstream_gene_variant MALY-DE 21 30967717 30967717 single base substitution A C intron_variant MALY-DE 21 30967717 30967717 single base substitution A C upstream_gene_variant MALY-DE 21 30969000 30969000 single base substitution C T exon_variant MALY-DE 21 30969000 30969000 single base substitution C T intron_variant MALY-DE 21 30978669 30978669 single base substitution C T intron_variant MALY-DE 21 30980964 30980964 single base substitution C A intron_variant MALY-DE 21 30985414 30985414 single base substitution T C intron_variant MALY-DE 21 30993714 30993715 deletion of <=200bp GT - intron_variant MALY-DE 21 30995819 30995819 single base substitution A C intron_variant MALY-DE 21 30996817 30996817 single base substitution C G intron_variant MALY-DE 21 31002914 31002914 single base substitution G A 3_prime_UTR_variant MALY-DE 21 31002914 31002914 single base substitution G A exon_variant MELA-AU 21 30561403 30561403 single base substitution C T upstream_gene_variant MELA-AU 21 30562175 30562175 single base substitution G A upstream_gene_variant MELA-AU 21 30562459 30562459 single base substitution G A upstream_gene_variant MELA-AU 21 30562508 30562508 single base substitution C T upstream_gene_variant MELA-AU 21 30562661 30562661 single base substitution C T upstream_gene_variant MELA-AU 21 30562920 30562920 single base substitution C T upstream_gene_variant MELA-AU 21 30563017 30563017 single base substitution G A upstream_gene_variant MELA-AU 21 30563055 30563055 single base substitution T C upstream_gene_variant MELA-AU 21 30563374 30563374 single base substitution G A upstream_gene_variant MELA-AU 21 30563492 30563492 single base substitution G A upstream_gene_variant MELA-AU 21 30563573 30563573 single base substitution G A upstream_gene_variant MELA-AU 21 30563622 30563622 single base substitution G A upstream_gene_variant MELA-AU 21 30563645 30563645 single base substitution G A upstream_gene_variant MELA-AU 21 30564115 30564115 single base substitution C T upstream_gene_variant MELA-AU 21 30564226 30564226 single base substitution A T upstream_gene_variant MELA-AU 21 30564407 30564407 single base substitution G A upstream_gene_variant MELA-AU 21 30564483 30564483 single base substitution C T upstream_gene_variant MELA-AU 21 30564578 30564578 single base substitution G A upstream_gene_variant MELA-AU 21 30564980 30564980 single base substitution C T upstream_gene_variant MELA-AU 21 30565607 30565607 single base substitution C T upstream_gene_variant MELA-AU 21 30566428 30566428 single base substitution T A 5_prime_UTR_variant MELA-AU 21 30566428 30566428 single base substitution T A upstream_gene_variant MELA-AU 21 30566541 30566541 single base substitution G A 5_prime_UTR_variant MELA-AU 21 30566614 30566614 single base substitution C T intron_variant MELA-AU 21 30567087 30567087 single base substitution G A intron_variant MELA-AU 21 30567119 30567120 multiple base substitution (>=2bp and <=200bp) TA AG intron_variant MELA-AU 21 30567203 30567203 single base substitution G A intron_variant MELA-AU 21 30567463 30567463 single base substitution G A intron_variant MELA-AU 21 30568710 30568710 single base substitution C T intron_variant MELA-AU 21 30569613 30569613 single base substitution C T intron_variant MELA-AU 21 30569965 30569966 multiple base substitution (>=2bp and <=200bp) CC TT intron_variant MELA-AU 21 30570066 30570066 single base substitution C T intron_variant MELA-AU 21 30570384 30570384 single base substitution C T intron_variant MELA-AU 21 30570566 30570566 single base substitution C T intron_variant MELA-AU 21 30570772 30570773 multiple base substitution (>=2bp and <=200bp) GG AA intron_variant MELA-AU 21 30570899 30570899 single base substitution C T intron_variant MELA-AU 21 30570959 30570960 multiple base substitution (>=2bp and <=200bp) GG AA intron_variant MELA-AU 21 30571063 30571063 single base substitution C T intron_variant MELA-AU 21 30571064 30571064 single base substitution C T intron_variant MELA-AU 21 30571119 30571119 single base substitution G A intron_variant MELA-AU 21 30571300 30571300 single base substitution C T intron_variant MELA-AU 21 30571597 30571597 single base substitution C A intron_variant MELA-AU 21 30571621 30571621 single base substitution C T intron_variant MELA-AU 21 30571827 30571827 single base substitution G A intron_variant MELA-AU 21 30572055 30572055 single base substitution G A intron_variant MELA-AU 21 30572188 30572188 single base substitution C T intron_variant MELA-AU 21 30572468 30572468 single base substitution T A intron_variant MELA-AU 21 30572547 30572547 single base substitution G A intron_variant MELA-AU 21 30572599 30572599 single base substitution C T intron_variant MELA-AU 21 30572843 30572843 single base substitution G A intron_variant MELA-AU 21 30573103 30573103 single base substitution C T intron_variant MELA-AU 21 30573120 30573120 single base substitution C T intron_variant MELA-AU 21 30573242 30573242 single base substitution C T intron_variant MELA-AU 21 30573295 30573295 single base substitution C T intron_variant MELA-AU 21 30573366 30573366 single base substitution T G intron_variant MELA-AU 21 30573730 30573730 single base substitution G A intron_variant MELA-AU 21 30573876 30573876 single base substitution G A intron_variant MELA-AU 21 30573887 30573887 single base substitution G A intron_variant MELA-AU 21 30573978 30573978 single base substitution A G intron_variant MELA-AU 21 30574321 30574321 single base substitution G A intron_variant MELA-AU 21 30574337 30574338 multiple base substitution (>=2bp and <=200bp) CC TT intron_variant MELA-AU 21 30574428 30574428 single base substitution C T intron_variant MELA-AU 21 30574484 30574484 single base substitution C T intron_variant MELA-AU 21 30574547 30574547 single base substitution T C intron_variant MELA-AU 21 30575019 30575019 single base substitution C A intron_variant MELA-AU 21 30575056 30575056 single base substitution G A intron_variant MELA-AU 21 30575097 30575097 single base substitution G A intron_variant MELA-AU 21 30575177 30575177 single base substitution G A intron_variant MELA-AU 21 30575184 30575184 single base substitution G A intron_variant MELA-AU 21 30575448 30575448 single base substitution G C intron_variant MELA-AU 21 30575526 30575526 single base substitution C T intron_variant MELA-AU 21 30575788 30575788 single base substitution G A intron_variant MELA-AU 21 30575913 30575913 single base substitution T C intron_variant MELA-AU 21 30576342 30576342 single base substitution C T intron_variant MELA-AU 21 30576343 30576343 single base substitution C T intron_variant MELA-AU 21 30576858 30576858 single base substitution A G intron_variant MELA-AU 21 30576938 30576939 multiple base substitution (>=2bp and <=200bp) AG GA intron_variant MELA-AU 21 30577449 30577449 single base substitution C T intron_variant MELA-AU 21 30577542 30577542 single base substitution C T intron_variant MELA-AU 21 30577686 30577686 single base substitution T A intron_variant MELA-AU 21 30578358 30578358 single base substitution G A intron_variant MELA-AU 21 30578580 30578580 single base substitution G A intron_variant MELA-AU 21 30578696 30578696 single base substitution C T intron_variant MELA-AU 21 30579263 30579263 single base substitution T C intron_variant MELA-AU 21 30579464 30579464 single base substitution C T intron_variant MELA-AU 21 30580050 30580050 single base substitution C T intron_variant MELA-AU 21 30582168 30582168 single base substitution C T intron_variant MELA-AU 21 30582643 30582643 single base substitution G A intron_variant MELA-AU 21 30583729 30583729 single base substitution G A intron_variant MELA-AU 21 30584174 30584174 single base substitution G A intron_variant MELA-AU 21 30584785 30584785 single base substitution C T intron_variant MELA-AU 21 30584810 30584810 single base substitution C T intron_variant MELA-AU 21 30585280 30585280 single base substitution A G intron_variant MELA-AU 21 30585613 30585613 single base substitution C T intron_variant MELA-AU 21 30586475 30586475 single base substitution C G intron_variant MELA-AU 21 30586521 30586521 single base substitution G C intron_variant MELA-AU 21 30586574 30586574 single base substitution A C intron_variant MELA-AU 21 30587487 30587487 single base substitution C T intron_variant MELA-AU 21 30587955 30587955 single base substitution T A intron_variant MELA-AU 21 30587983 30587983 single base substitution G A intron_variant MELA-AU 21 30589311 30589311 single base substitution C T intron_variant MELA-AU 21 30589595 30589595 single base substitution C T intron_variant MELA-AU 21 30589705 30589705 single base substitution G A intron_variant MELA-AU 21 30589765 30589765 single base substitution G A intron_variant MELA-AU 21 30590154 30590154 single base substitution G A intron_variant MELA-AU 21 30590161 30590161 single base substitution G A intron_variant MELA-AU 21 30590332 30590332 single base substitution G A intron_variant MELA-AU 21 30590377 30590377 single base substitution C T intron_variant MELA-AU 21 30590568 30590568 single base substitution C T intron_variant MELA-AU 21 30590623 30590623 single base substitution G A intron_variant MELA-AU 21 30591074 30591074 single base substitution A T intron_variant MELA-AU 21 30591419 30591419 single base substitution G T intron_variant MELA-AU 21 30591743 30591743 single base substitution C T intron_variant MELA-AU 21 30591800 30591800 single base substitution C T intron_variant MELA-AU 21 30591807 30591807 single base substitution C T intron_variant MELA-AU 21 30591919 30591919 single base substitution G A intron_variant MELA-AU 21 30592131 30592131 single base substitution C T intron_variant MELA-AU 21 30592792 30592792 single base substitution T A intron_variant MELA-AU 21 30592829 30592829 single base substitution G A intron_variant MELA-AU 21 30593173 30593173 single base substitution C T intron_variant MELA-AU 21 30593213 30593213 single base substitution A T intron_variant MELA-AU 21 30593533 30593533 single base substitution G A intron_variant MELA-AU 21 30593559 30593559 single base substitution C T intron_variant MELA-AU 21 30593720 30593720 single base substitution G A intron_variant MELA-AU 21 30594081 30594081 single base substitution G A intron_variant MELA-AU 21 30594274 30594274 single base substitution C T intron_variant MELA-AU 21 30594588 30594588 single base substitution C T intron_variant MELA-AU 21 30594669 30594669 single base substitution G A intron_variant MELA-AU 21 30594684 30594684 single base substitution G T intron_variant MELA-AU 21 30594854 30594854 single base substitution T C intron_variant MELA-AU 21 30594886 30594886 single base substitution G A intron_variant MELA-AU 21 30594974 30594974 single base substitution G A intron_variant MELA-AU 21 30595108 30595108 single base substitution C T intron_variant MELA-AU 21 30595652 30595653 multiple base substitution (>=2bp and <=200bp) GG AA intron_variant MELA-AU 21 30595694 30595694 single base substitution C T intron_variant MELA-AU 21 30595983 30595983 single base substitution G A intron_variant MELA-AU 21 30596491 30596491 single base substitution G A intron_variant MELA-AU 21 30597111 30597111 single base substitution C T intron_variant MELA-AU 21 30597146 30597146 single base substitution T C intron_variant MELA-AU 21 30597195 30597195 single base substitution C T intron_variant MELA-AU 21 30597391 30597391 single base substitution C T intron_variant MELA-AU 21 30597424 30597424 single base substitution C T intron_variant MELA-AU 21 30597782 30597782 single base substitution C T intron_variant MELA-AU 21 30598008 30598008 single base substitution C T intron_variant MELA-AU 21 30598077 30598077 single base substitution C T intron_variant MELA-AU 21 30598086 30598086 single base substitution C T intron_variant MELA-AU 21 30598105 30598105 single base substitution G A intron_variant MELA-AU 21 30598358 30598358 single base substitution A C intron_variant MELA-AU 21 30598622 30598622 single base substitution C T intron_variant MELA-AU 21 30598624 30598624 single base substitution A G intron_variant MELA-AU 21 30598673 30598673 single base substitution C T intron_variant MELA-AU 21 30598779 30598779 single base substitution C T intron_variant MELA-AU 21 30598844 30598844 single base substitution C T intron_variant MELA-AU 21 30598928 30598928 single base substitution G A intron_variant MELA-AU 21 30598977 30598977 single base substitution C T intron_variant MELA-AU 21 30599552 30599552 single base substitution C T intron_variant MELA-AU 21 30599719 30599719 single base substitution C T intron_variant MELA-AU 21 30599799 30599799 single base substitution C T intron_variant MELA-AU 21 30599998 30599998 single base substitution C T intron_variant MELA-AU 21 30600070 30600070 single base substitution G T intron_variant MELA-AU 21 30600146 30600146 single base substitution C T intron_variant MELA-AU 21 30600175 30600175 single base substitution G A intron_variant MELA-AU 21 30600322 30600322 single base substitution C T intron_variant MELA-AU 21 30600375 30600375 single base substitution C T intron_variant MELA-AU 21 30600579 30600579 single base substitution C T intron_variant MELA-AU 21 30601049 30601049 single base substitution C T intron_variant MELA-AU 21 30602597 30602597 single base substitution G A intron_variant MELA-AU 21 30602600 30602600 single base substitution T C intron_variant MELA-AU 21 30602824 30602824 single base substitution C T intron_variant MELA-AU 21 30603417 30603417 single base substitution C T intron_variant MELA-AU 21 30603452 30603452 single base substitution G A intron_variant MELA-AU 21 30603453 30603453 single base substitution G A intron_variant MELA-AU 21 30603471 30603471 single base substitution T G intron_variant MELA-AU 21 30603619 30603619 single base substitution C T intron_variant MELA-AU 21 30603817 30603817 single base substitution C T intron_variant MELA-AU 21 30604075 30604075 single base substitution C T intron_variant MELA-AU 21 30604091 30604091 single base substitution C T intron_variant MELA-AU 21 30604158 30604158 single base substitution G A intron_variant MELA-AU 21 30604272 30604272 single base substitution T G intron_variant MELA-AU 21 30604618 30604618 single base substitution A T intron_variant MELA-AU 21 30604781 30604781 single base substitution C T intron_variant MELA-AU 21 30604800 30604800 single base substitution C T intron_variant MELA-AU 21 30604810 30604810 single base substitution C T intron_variant MELA-AU 21 30604882 30604882 single base substitution G A intron_variant MELA-AU 21 30604914 30604914 single base substitution G A intron_variant MELA-AU 21 30605981 30605981 single base substitution C T intron_variant MELA-AU 21 30606058 30606058 single base substitution C T intron_variant MELA-AU 21 30606119 30606119 single base substitution C T intron_variant MELA-AU 21 30606281 30606281 single base substitution C T intron_variant MELA-AU 21 30606371 30606371 single base substitution C T intron_variant MELA-AU 21 30606476 30606476 single base substitution G A intron_variant MELA-AU 21 30606848 30606849 multiple base substitution (>=2bp and <=200bp) CC TT intron_variant MELA-AU 21 30606972 30606972 single base substitution G A intron_variant MELA-AU 21 30607103 30607103 single base substitution G A intron_variant MELA-AU 21 30607160 30607160 single base substitution C T intron_variant MELA-AU 21 30607206 30607206 single base substitution C T intron_variant MELA-AU 21 30607510 30607510 single base substitution G A intron_variant MELA-AU 21 30607622 30607622 single base substitution C T intron_variant MELA-AU 21 30607838 30607838 single base substitution G A intron_variant MELA-AU 21 30607882 30607882 single base substitution C T intron_variant MELA-AU 21 30608081 30608081 single base substitution C T intron_variant MELA-AU 21 30608524 30608524 single base substitution C T intron_variant MELA-AU 21 30608734 30608734 single base substitution C T intron_variant MELA-AU 21 30608983 30608983 single base substitution G C intron_variant MELA-AU 21 30609325 30609325 single base substitution C T intron_variant MELA-AU 21 30610003 30610003 single base substitution G A intron_variant MELA-AU 21 30610496 30610496 single base substitution C T intron_variant MELA-AU 21 30610707 30610707 single base substitution C T intron_variant MELA-AU 21 30610777 30610777 single base substitution C T intron_variant MELA-AU 21 30610968 30610968 single base substitution G A intron_variant MELA-AU 21 30611144 30611144 single base substitution C T intron_variant MELA-AU 21 30611614 30611614 single base substitution A T intron_variant MELA-AU 21 30611626 30611627 multiple base substitution (>=2bp and <=200bp) CC TT intron_variant MELA-AU 21 30611968 30611968 single base substitution C T intron_variant MELA-AU 21 30612031 30612032 multiple base substitution (>=2bp and <=200bp) GA AT intron_variant MELA-AU 21 30612087 30612087 single base substitution T A intron_variant MELA-AU 21 30612751 30612751 single base substitution C A intron_variant MELA-AU 21 30612984 30612984 single base substitution G A intron_variant MELA-AU 21 30613048 30613048 single base substitution C T intron_variant MELA-AU 21 30613103 30613103 single base substitution C T intron_variant MELA-AU 21 30613378 30613378 single base substitution G A intron_variant MELA-AU 21 30613610 30613610 single base substitution G A intron_variant MELA-AU 21 30613813 30613813 single base substitution G A intron_variant MELA-AU 21 30614242 30614242 single base substitution A C intron_variant MELA-AU 21 30614266 30614266 single base substitution T A intron_variant MELA-AU 21 30614392 30614392 deletion of <=200bp A - intron_variant MELA-AU 21 30614522 30614522 single base substitution G A intron_variant MELA-AU 21 30614729 30614729 single base substitution C T intron_variant MELA-AU 21 30614979 30614979 single base substitution C T intron_variant MELA-AU 21 30615147 30615147 single base substitution G A intron_variant MELA-AU 21 30615378 30615378 single base substitution A G intron_variant MELA-AU 21 30615724 30615724 single base substitution C T intron_variant MELA-AU 21 30615926 30615926 single base substitution G A intron_variant MELA-AU 21 30615955 30615955 single base substitution C T intron_variant MELA-AU 21 30615964 30615965 multiple base substitution (>=2bp and <=200bp) GG AA intron_variant MELA-AU 21 30615994 30615995 multiple base substitution (>=2bp and <=200bp) CC TT intron_variant MELA-AU 21 30616346 30616346 single base substitution C T intron_variant MELA-AU 21 30616503 30616503 single base substitution A T intron_variant MELA-AU 21 30616528 30616528 single base substitution G A intron_variant MELA-AU 21 30616537 30616537 single base substitution G A intron_variant MELA-AU 21 30616561 30616561 single base substitution C T intron_variant MELA-AU 21 30616602 30616602 single base substitution C T intron_variant MELA-AU 21 30617297 30617297 single base substitution T C intron_variant MELA-AU 21 30617298 30617298 single base substitution C T intron_variant MELA-AU 21 30618210 30618210 single base substitution A C intron_variant MELA-AU 21 30618487 30618487 single base substitution G A intron_variant MELA-AU 21 30618890 30618890 single base substitution C T intron_variant MELA-AU 21 30619408 30619408 single base substitution C T intron_variant MELA-AU 21 30619571 30619572 multiple base substitution (>=2bp and <=200bp) CC TT intron_variant MELA-AU 21 30619999 30619999 single base substitution C T intron_variant MELA-AU 21 30620162 30620162 single base substitution C T intron_variant MELA-AU 21 30621135 30621135 single base substitution G A intron_variant MELA-AU 21 30621478 30621478 single base substitution C T intron_variant MELA-AU 21 30621642 30621642 single base substitution C T intron_variant MELA-AU 21 30621981 30621981 single base substitution C T intron_variant MELA-AU 21 30622681 30622681 single base substitution C T intron_variant MELA-AU 21 30622845 30622845 single base substitution C T intron_variant MELA-AU 21 30623447 30623447 single base substitution T C intron_variant MELA-AU 21 30623504 30623504 single base substitution C T intron_variant MELA-AU 21 30623708 30623708 single base substitution G A intron_variant MELA-AU 21 30623805 30623805 single base substitution C T intron_variant MELA-AU 21 30623975 30623975 single base substitution C T intron_variant MELA-AU 21 30624104 30624104 single base substitution G A intron_variant MELA-AU 21 30624149 30624149 single base substitution C T intron_variant MELA-AU 21 30624186 30624186 single base substitution C T intron_variant MELA-AU 21 30624193 30624193 single base substitution T G intron_variant MELA-AU 21 30624287 30624287 single base substitution T C intron_variant MELA-AU 21 30625422 30625422 single base substitution C T intron_variant MELA-AU 21 30625690 30625690 single base substitution C T intron_variant MELA-AU 21 30625769 30625769 single base substitution G A intron_variant MELA-AU 21 30626192 30626192 single base substitution C T intron_variant MELA-AU 21 30626301 30626301 single base substitution C T intron_variant MELA-AU 21 30626307 30626307 single base substitution C T intron_variant MELA-AU 21 30626609 30626609 single base substitution C T intron_variant MELA-AU 21 30626671 30626672 multiple base substitution (>=2bp and <=200bp) CC TT intron_variant MELA-AU 21 30626740 30626740 single base substitution A G intron_variant MELA-AU 21 30626747 30626747 single base substitution C T intron_variant MELA-AU 21 30627028 30627028 single base substitution G A intron_variant MELA-AU 21 30627154 30627154 single base substitution C T intron_variant MELA-AU 21 30627654 30627654 single base substitution G A intron_variant MELA-AU 21 30628248 30628248 single base substitution C T intron_variant MELA-AU 21 30628636 30628636 single base substitution C T intron_variant MELA-AU 21 30628640 30628640 single base substitution A C intron_variant MELA-AU 21 30630242 30630242 single base substitution G A intron_variant MELA-AU 21 30630276 30630276 single base substitution C T intron_variant MELA-AU 21 30630718 30630718 single base substitution C T intron_variant MELA-AU 21 30630927 30630927 single base substitution G A intron_variant MELA-AU 21 30631071 30631071 single base substitution C T intron_variant MELA-AU 21 30631090 30631090 single base substitution T A intron_variant MELA-AU 21 30631415 30631415 single base substitution G A intron_variant MELA-AU 21 30631606 30631606 single base substitution C T intron_variant MELA-AU 21 30631829 30631829 single base substitution C T intron_variant MELA-AU 21 30632490 30632490 single base substitution G A intron_variant MELA-AU 21 30633223 30633223 single base substitution G A intron_variant MELA-AU 21 30633457 30633457 single base substitution G A intron_variant MELA-AU 21 30633656 30633656 single base substitution C T intron_variant MELA-AU 21 30634442 30634442 single base substitution C T intron_variant MELA-AU 21 30634920 30634920 single base substitution C T intron_variant MELA-AU 21 30635054 30635054 single base substitution T A intron_variant MELA-AU 21 30635055 30635055 single base substitution C T intron_variant MELA-AU 21 30636575 30636575 single base substitution C T intron_variant MELA-AU 21 30637090 30637090 single base substitution G A intron_variant MELA-AU 21 30637240 30637240 single base substitution G A intron_variant MELA-AU 21 30637641 30637641 single base substitution C T intron_variant MELA-AU 21 30637823 30637823 single base substitution C T intron_variant MELA-AU 21 30637853 30637854 multiple base substitution (>=2bp and <=200bp) CC TT intron_variant MELA-AU 21 30637871 30637871 single base substitution C T intron_variant MELA-AU 21 30638169 30638169 single base substitution C T intron_variant MELA-AU 21 30638235 30638235 single base substitution C T intron_variant MELA-AU 21 30638622 30638622 single base substitution C T intron_variant MELA-AU 21 30639436 30639436 single base substitution G A intron_variant MELA-AU 21 30639472 30639472 single base substitution G A intron_variant MELA-AU 21 30640009 30640009 single base substitution T C intron_variant MELA-AU 21 30640398 30640398 single base substitution G A intron_variant MELA-AU 21 30640464 30640464 single base substitution G A intron_variant MELA-AU 21 30640618 30640618 single base substitution G A intron_variant MELA-AU 21 30640926 30640926 single base substitution C T intron_variant MELA-AU 21 30641192 30641192 single base substitution C T intron_variant MELA-AU 21 30641199 30641199 single base substitution C T intron_variant MELA-AU 21 30641270 30641270 single base substitution T G intron_variant MELA-AU 21 30641299 30641299 single base substitution G A intron_variant MELA-AU 21 30641680 30641680 single base substitution T G intron_variant MELA-AU 21 30641725 30641725 single base substitution G A intron_variant MELA-AU 21 30641789 30641789 single base substitution C T intron_variant MELA-AU 21 30641887 30641887 single base substitution C T intron_variant MELA-AU 21 30642134 30642134 single base substitution T C intron_variant MELA-AU 21 30642378 30642378 single base substitution C T intron_variant MELA-AU 21 30642552 30642553 multiple base substitution (>=2bp and <=200bp) CC TT intron_variant MELA-AU 21 30642628 30642628 single base substitution T C intron_variant MELA-AU 21 30642771 30642771 single base substitution C T 5_prime_UTR_premature_start_codon_gain_variant MELA-AU 21 30642771 30642771 single base substitution C T intron_variant MELA-AU 21 30642814 30642814 single base substitution C T intron_variant MELA-AU 21 30642843 30642843 single base substitution G A intron_variant MELA-AU 21 30643317 30643317 single base substitution G A intron_variant MELA-AU 21 30643363 30643363 single base substitution G A intron_variant MELA-AU 21 30643389 30643389 single base substitution G A intron_variant MELA-AU 21 30643753 30643753 single base substitution G A intron_variant MELA-AU 21 30643795 30643795 single base substitution G A intron_variant MELA-AU 21 30643983 30643983 single base substitution G A intron_variant MELA-AU 21 30644183 30644183 single base substitution T G intron_variant MELA-AU 21 30644207 30644207 single base substitution G A intron_variant MELA-AU 21 30644759 30644760 multiple base substitution (>=2bp and <=200bp) CC TT intron_variant MELA-AU 21 30644944 30644944 single base substitution G A intron_variant MELA-AU 21 30645959 30645959 single base substitution T C intron_variant MELA-AU 21 30646082 30646082 single base substitution G A intron_variant MELA-AU 21 30646400 30646400 single base substitution G A intron_variant MELA-AU 21 30646937 30646937 single base substitution G A intron_variant MELA-AU 21 30647308 30647308 single base substitution G A intron_variant MELA-AU 21 30647401 30647401 single base substitution G A intron_variant MELA-AU 21 30648043 30648043 single base substitution G A intron_variant MELA-AU 21 30648071 30648071 single base substitution C T intron_variant MELA-AU 21 30648328 30648328 single base substitution G C intron_variant MELA-AU 21 30648477 30648477 single base substitution C T intron_variant MELA-AU 21 30648696 30648696 single base substitution C T intron_variant MELA-AU 21 30648846 30648846 single base substitution G A intron_variant MELA-AU 21 30649863 30649863 single base substitution A T intron_variant MELA-AU 21 30650044 30650044 single base substitution C T intron_variant MELA-AU 21 30650121 30650121 single base substitution A G intron_variant MELA-AU 21 30650716 30650716 single base substitution C T intron_variant MELA-AU 21 30650730 30650730 single base substitution G A intron_variant MELA-AU 21 30650754 30650754 single base substitution C T intron_variant MELA-AU 21 30650940 30650940 single base substitution G A intron_variant MELA-AU 21 30650992 30650992 single base substitution C T intron_variant MELA-AU 21 30651595 30651595 single base substitution T C intron_variant MELA-AU 21 30651886 30651886 single base substitution C T intron_variant MELA-AU 21 30652067 30652067 single base substitution G A intron_variant MELA-AU 21 30652380 30652380 single base substitution G A intron_variant MELA-AU 21 30652577 30652577 single base substitution G A intron_variant MELA-AU 21 30652823 30652823 single base substitution C T intron_variant MELA-AU 21 30652864 30652864 single base substitution G A intron_variant MELA-AU 21 30653309 30653309 single base substitution C T intron_variant MELA-AU 21 30653347 30653347 single base substitution G A intron_variant MELA-AU 21 30653478 30653478 single base substitution C T intron_variant MELA-AU 21 30653893 30653893 single base substitution G A intron_variant MELA-AU 21 30653997 30653997 single base substitution G A intron_variant MELA-AU 21 30654108 30654108 single base substitution G A intron_variant MELA-AU 21 30654186 30654186 single base substitution G A intron_variant MELA-AU 21 30654397 30654397 single base substitution G A intron_variant MELA-AU 21 30654418 30654418 single base substitution G A intron_variant MELA-AU 21 30654942 30654942 single base substitution G A intron_variant MELA-AU 21 30655350 30655350 single base substitution C T intron_variant MELA-AU 21 30655536 30655536 single base substitution C T intron_variant MELA-AU 21 30655963 30655963 single base substitution G A intron_variant MELA-AU 21 30656071 30656071 single base substitution G A intron_variant MELA-AU 21 30656370 30656370 single base substitution C T intron_variant MELA-AU 21 30656473 30656473 single base substitution C T intron_variant MELA-AU 21 30656772 30656772 single base substitution G A intron_variant MELA-AU 21 30657290 30657290 single base substitution G T intron_variant MELA-AU 21 30657454 30657454 single base substitution C T intron_variant MELA-AU 21 30657551 30657551 single base substitution C T intron_variant MELA-AU 21 30657954 30657954 single base substitution G A intron_variant MELA-AU 21 30658399 30658399 single base substitution T A intron_variant MELA-AU 21 30658746 30658746 single base substitution G A intron_variant MELA-AU 21 30658814 30658814 single base substitution C T intron_variant MELA-AU 21 30658845 30658845 single base substitution G A intron_variant MELA-AU 21 30658897 30658897 single base substitution C T intron_variant MELA-AU 21 30658971 30658971 single base substitution C T intron_variant MELA-AU 21 30659700 30659700 single base substitution A G intron_variant MELA-AU 21 30660083 30660083 single base substitution C T intron_variant MELA-AU 21 30660268 30660268 single base substitution C T intron_variant MELA-AU 21 30660600 30660600 single base substitution G A intron_variant MELA-AU 21 30661016 30661016 single base substitution C T intron_variant MELA-AU 21 30662534 30662534 single base substitution C T intron_variant MELA-AU 21 30662899 30662899 single base substitution A C intron_variant MELA-AU 21 30663037 30663037 single base substitution G A intron_variant MELA-AU 21 30663575 30663575 single base substitution C T intron_variant MELA-AU 21 30663697 30663697 single base substitution G A intron_variant MELA-AU 21 30663701 30663701 single base substitution G A intron_variant MELA-AU 21 30664252 30664252 single base substitution T C intron_variant MELA-AU 21 30665891 30665891 single base substitution C T intron_variant MELA-AU 21 30668446 30668446 single base substitution G A intron_variant MELA-AU 21 30668446 30668446 single base substitution G A upstream_gene_variant MELA-AU 21 30669420 30669420 single base substitution C T intron_variant MELA-AU 21 30669420 30669420 single base substitution C T upstream_gene_variant MELA-AU 21 30669453 30669453 single base substitution G A intron_variant MELA-AU 21 30669453 30669453 single base substitution G A upstream_gene_variant MELA-AU 21 30669697 30669697 single base substitution G A intron_variant MELA-AU 21 30669697 30669697 single base substitution G A upstream_gene_variant MELA-AU 21 30670072 30670072 single base substitution T C intron_variant MELA-AU 21 30670072 30670072 single base substitution T C upstream_gene_variant MELA-AU 21 30670394 30670394 single base substitution G T intron_variant MELA-AU 21 30670394 30670394 single base substitution G T upstream_gene_variant MELA-AU 21 30670859 30670859 single base substitution C T intron_variant MELA-AU 21 30670859 30670859 single base substitution C T upstream_gene_variant MELA-AU 21 30672420 30672420 single base substitution G A intron_variant MELA-AU 21 30672420 30672420 single base substitution G A upstream_gene_variant MELA-AU 21 30672782 30672790 deletion of <=200bp ATACAGGTT - intron_variant MELA-AU 21 30672782 30672790 deletion of <=200bp ATACAGGTT - upstream_gene_variant MELA-AU 21 30674999 30675018 deletion of <=200bp ATCAAGTGTTAGGTGTTATT - intron_variant MELA-AU 21 30674999 30675018 deletion of <=200bp ATCAAGTGTTAGGTGTTATT - upstream_gene_variant MELA-AU 21 30676764 30676764 single base substitution C T intron_variant MELA-AU 21 30676764 30676764 single base substitution C T upstream_gene_variant MELA-AU 21 30677589 30677589 single base substitution C A 5_prime_UTR_variant MELA-AU 21 30677589 30677589 single base substitution C A intron_variant MELA-AU 21 30677760 30677760 single base substitution G T intron_variant MELA-AU 21 30678544 30678544 single base substitution C T intron_variant MELA-AU 21 30678921 30678921 single base substitution T C intron_variant MELA-AU 21 30679455 30679455 single base substitution G A intron_variant MELA-AU 21 30679710 30679710 single base substitution C T intron_variant MELA-AU 21 30679828 30679828 single base substitution T C intron_variant MELA-AU 21 30681229 30681229 single base substitution T C intron_variant MELA-AU 21 30681271 30681271 single base substitution G C intron_variant MELA-AU 21 30684026 30684026 single base substitution C T intron_variant MELA-AU 21 30684148 30684148 single base substitution C T intron_variant MELA-AU 21 30686085 30686085 single base substitution C T intron_variant MELA-AU 21 30686092 30686092 single base substitution A G intron_variant MELA-AU 21 30686913 30686913 single base substitution C T intron_variant MELA-AU 21 30687071 30687071 single base substitution C T intron_variant MELA-AU 21 30687624 30687624 single base substitution T C intron_variant MELA-AU 21 30687864 30687864 single base substitution C T intron_variant MELA-AU 21 30688985 30688985 single base substitution T A intron_variant MELA-AU 21 30689199 30689199 single base substitution G A intron_variant MELA-AU 21 30689219 30689219 single base substitution T A intron_variant MELA-AU 21 30691751 30691751 single base substitution T C intron_variant MELA-AU 21 30692284 30692284 single base substitution T C intron_variant MELA-AU 21 30692572 30692572 single base substitution A T intron_variant MELA-AU 21 30693180 30693180 single base substitution C T intron_variant MELA-AU 21 30694279 30694279 single base substitution C A downstream_gene_variant MELA-AU 21 30694279 30694279 single base substitution C A intron_variant MELA-AU 21 30694533 30694533 single base substitution G A downstream_gene_variant MELA-AU 21 30694533 30694533 single base substitution G A intron_variant MELA-AU 21 30694533 30694533 single base substitution G A upstream_gene_variant MELA-AU 21 30695837 30695837 single base substitution C T downstream_gene_variant MELA-AU 21 30695837 30695837 single base substitution C T intron_variant MELA-AU 21 30695837 30695837 single base substitution C T upstream_gene_variant MELA-AU 21 30695855 30695855 single base substitution C T downstream_gene_variant MELA-AU 21 30695855 30695855 single base substitution C T intron_variant MELA-AU 21 30695855 30695855 single base substitution C T upstream_gene_variant MELA-AU 21 30696013 30696013 single base substitution C T downstream_gene_variant MELA-AU 21 30696013 30696013 single base substitution C T intron_variant MELA-AU 21 30696013 30696013 single base substitution C T upstream_gene_variant MELA-AU 21 30696250 30696250 single base substitution C T downstream_gene_variant MELA-AU 21 30696250 30696250 single base substitution C T intron_variant MELA-AU 21 30696250 30696250 single base substitution C T upstream_gene_variant MELA-AU 21 30696406 30696406 single base substitution C T downstream_gene_variant MELA-AU 21 30696406 30696406 single base substitution C T intron_variant MELA-AU 21 30696406 30696406 single base substitution C T upstream_gene_variant MELA-AU 21 30696438 30696438 single base substitution T C downstream_gene_variant MELA-AU 21 30696438 30696438 single base substitution T C intron_variant MELA-AU 21 30696438 30696438 single base substitution T C upstream_gene_variant MELA-AU 21 30697314 30697315 multiple base substitution (>=2bp and <=200bp) CC TT downstream_gene_variant MELA-AU 21 30697314 30697315 multiple base substitution (>=2bp and <=200bp) CC TT intron_variant MELA-AU 21 30697314 30697315 multiple base substitution (>=2bp and <=200bp) CC TT upstream_gene_variant MELA-AU 21 30697545 30697545 single base substitution C T downstream_gene_variant MELA-AU 21 30697545 30697545 single base substitution C T intron_variant MELA-AU 21 30697545 30697545 single base substitution C T upstream_gene_variant MELA-AU 21 30697937 30697937 single base substitution C T downstream_gene_variant MELA-AU 21 30697937 30697937 single base substitution C T intron_variant MELA-AU 21 30697937 30697937 single base substitution C T upstream_gene_variant MELA-AU 21 30699395 30699395 single base substitution C T downstream_gene_variant MELA-AU 21 30699395 30699395 single base substitution C T missense_variant S417L 1250C>T MELA-AU 21 30699395 30699395 single base substitution C T upstream_gene_variant MELA-AU 21 30700145 30700145 single base substitution A T downstream_gene_variant MELA-AU 21 30700145 30700145 single base substitution A T intron_variant MELA-AU 21 30700498 30700498 single base substitution C T downstream_gene_variant MELA-AU 21 30700498 30700498 single base substitution C T intron_variant MELA-AU 21 30700638 30700638 single base substitution C T downstream_gene_variant MELA-AU 21 30700638 30700638 single base substitution C T intron_variant MELA-AU 21 30700830 30700830 single base substitution C T downstream_gene_variant MELA-AU 21 30700830 30700830 single base substitution C T intron_variant MELA-AU 21 30701019 30701019 single base substitution C T downstream_gene_variant MELA-AU 21 30701019 30701019 single base substitution C T intron_variant MELA-AU 21 30701035 30701035 single base substitution C T downstream_gene_variant MELA-AU 21 30701035 30701035 single base substitution C T intron_variant MELA-AU 21 30701305 30701305 single base substitution G A downstream_gene_variant MELA-AU 21 30701305 30701305 single base substitution G A intron_variant MELA-AU 21 30701432 30701432 single base substitution C T downstream_gene_variant MELA-AU 21 30701432 30701432 single base substitution C T intron_variant MELA-AU 21 30701865 30701865 single base substitution T A downstream_gene_variant MELA-AU 21 30701865 30701865 single base substitution T A missense_variant S108T 322T>A MELA-AU 21 30701865 30701865 single base substitution T A missense_variant S543T 1627T>A MELA-AU 21 30701865 30701865 single base substitution T A missense_variant S59T 175T>A MELA-AU 21 30702064 30702064 single base substitution T C downstream_gene_variant MELA-AU 21 30702064 30702064 single base substitution T C intron_variant MELA-AU 21 30702722 30702722 single base substitution C T downstream_gene_variant MELA-AU 21 30702722 30702722 single base substitution C T intron_variant MELA-AU 21 30702736 30702736 single base substitution C T downstream_gene_variant MELA-AU 21 30702736 30702736 single base substitution C T intron_variant MELA-AU 21 30703121 30703121 single base substitution C T downstream_gene_variant MELA-AU 21 30703121 30703121 single base substitution C T intron_variant MELA-AU 21 30703349 30703349 single base substitution A G downstream_gene_variant MELA-AU 21 30703349 30703349 single base substitution A G intron_variant MELA-AU 21 30703440 30703440 single base substitution G A downstream_gene_variant MELA-AU 21 30703440 30703440 single base substitution G A intron_variant MELA-AU 21 30705098 30705098 single base substitution C T intron_variant MELA-AU 21 30706483 30706483 single base substitution G T intron_variant MELA-AU 21 30706572 30706573 multiple base substitution (>=2bp and <=200bp) CC AT intron_variant MELA-AU 21 30706948 30706948 single base substitution T G intron_variant MELA-AU 21 30708395 30708395 single base substitution G A intron_variant MELA-AU 21 30708960 30708960 single base substitution G A intron_variant MELA-AU 21 30709640 30709640 single base substitution C T intron_variant MELA-AU 21 30710590 30710590 single base substitution T A intron_variant MELA-AU 21 30711884 30711884 single base substitution T A intron_variant MELA-AU 21 30712206 30712206 single base substitution C T intron_variant MELA-AU 21 30712786 30712786 single base substitution C T intron_variant MELA-AU 21 30714067 30714067 single base substitution T C intron_variant MELA-AU 21 30715631 30715631 single base substitution G T 3_prime_UTR_variant MELA-AU 21 30715631 30715631 single base substitution G T intron_variant MELA-AU 21 30715832 30715832 single base substitution G A 3_prime_UTR_variant MELA-AU 21 30715832 30715832 single base substitution G A intron_variant MELA-AU 21 30715887 30715887 single base substitution T G 3_prime_UTR_variant MELA-AU 21 30715887 30715887 single base substitution T G intron_variant MELA-AU 21 30715914 30715914 single base substitution C T 3_prime_UTR_variant MELA-AU 21 30715914 30715914 single base substitution C T intron_variant MELA-AU 21 30716245 30716245 single base substitution C T 3_prime_UTR_variant MELA-AU 21 30716245 30716245 single base substitution C T intron_variant MELA-AU 21 30716985 30716985 single base substitution G A 3_prime_UTR_variant MELA-AU 21 30716985 30716985 single base substitution G A intron_variant MELA-AU 21 30717065 30717065 single base substitution G A 3_prime_UTR_variant MELA-AU 21 30717065 30717065 single base substitution G A intron_variant MELA-AU 21 30717134 30717134 single base substitution C T 3_prime_UTR_variant MELA-AU 21 30717134 30717134 single base substitution C T intron_variant MELA-AU 21 30718370 30718370 single base substitution C T 3_prime_UTR_variant MELA-AU 21 30718370 30718370 single base substitution C T intron_variant MELA-AU 21 30719155 30719155 single base substitution T C downstream_gene_variant MELA-AU 21 30719155 30719155 single base substitution T C intron_variant MELA-AU 21 30719282 30719283 multiple base substitution (>=2bp and <=200bp) CC TT downstream_gene_variant MELA-AU 21 30719282 30719283 multiple base substitution (>=2bp and <=200bp) CC TT intron_variant MELA-AU 21 30719954 30719954 single base substitution C T downstream_gene_variant MELA-AU 21 30719954 30719954 single base substitution C T intron_variant MELA-AU 21 30720239 30720239 single base substitution T G downstream_gene_variant MELA-AU 21 30720239 30720239 single base substitution T G intron_variant MELA-AU 21 30720963 30720963 single base substitution C T downstream_gene_variant MELA-AU 21 30720963 30720963 single base substitution C T intron_variant MELA-AU 21 30721164 30721164 single base substitution C T downstream_gene_variant MELA-AU 21 30721164 30721164 single base substitution C T intron_variant MELA-AU 21 30721708 30721708 single base substitution C T downstream_gene_variant MELA-AU 21 30721708 30721708 single base substitution C T intron_variant MELA-AU 21 30721779 30721779 single base substitution C T downstream_gene_variant MELA-AU 21 30721779 30721779 single base substitution C T intron_variant MELA-AU 21 30722270 30722270 single base substitution G A downstream_gene_variant MELA-AU 21 30722270 30722270 single base substitution G A intron_variant MELA-AU 21 30723442 30723442 single base substitution C T downstream_gene_variant MELA-AU 21 30723442 30723442 single base substitution C T intron_variant MELA-AU 21 30723614 30723615 multiple base substitution (>=2bp and <=200bp) CC TT intron_variant MELA-AU 21 30724670 30724670 single base substitution C A intron_variant MELA-AU 21 30724670 30724670 single base substitution C T intron_variant MELA-AU 21 30725406 30725406 single base substitution G T intron_variant MELA-AU 21 30727975 30727975 single base substitution C T intron_variant MELA-AU 21 30728252 30728253 multiple base substitution (>=2bp and <=200bp) CC TT intron_variant MELA-AU 21 30728345 30728345 single base substitution G A intron_variant MELA-AU 21 30728370 30728370 single base substitution C T intron_variant MELA-AU 21 30728455 30728455 single base substitution C T intron_variant MELA-AU 21 30729225 30729225 single base substitution C T intron_variant MELA-AU 21 30730008 30730008 single base substitution T A intron_variant MELA-AU 21 30730320 30730320 single base substitution C T intron_variant MELA-AU 21 30730943 30730943 single base substitution C T intron_variant MELA-AU 21 30731121 30731121 single base substitution A C intron_variant MELA-AU 21 30731517 30731517 single base substitution C G intron_variant MELA-AU 21 30731548 30731548 single base substitution G T intron_variant MELA-AU 21 30731574 30731574 single base substitution C T intron_variant MELA-AU 21 30731773 30731773 single base substitution C T intron_variant MELA-AU 21 30731994 30731994 single base substitution C T intron_variant MELA-AU 21 30732085 30732085 single base substitution C A intron_variant MELA-AU 21 30732251 30732251 single base substitution C T intron_variant MELA-AU 21 30733004 30733004 single base substitution A C intron_variant MELA-AU 21 30733763 30733763 single base substitution T G intron_variant MELA-AU 21 30733992 30733992 single base substitution A T intron_variant MELA-AU 21 30735071 30735071 single base substitution C T intron_variant MELA-AU 21 30735499 30735499 single base substitution C T intron_variant MELA-AU 21 30735507 30735507 single base substitution C T intron_variant MELA-AU 21 30735668 30735668 single base substitution C T intron_variant MELA-AU 21 30737077 30737077 single base substitution C T intron_variant MELA-AU 21 30738577 30738577 single base substitution C T intron_variant MELA-AU 21 30738712 30738712 single base substitution C T intron_variant MELA-AU 21 30739492 30739492 single base substitution C T intron_variant MELA-AU 21 30739780 30739781 multiple base substitution (>=2bp and <=200bp) CC TT intron_variant MELA-AU 21 30740901 30740901 single base substitution C T intron_variant MELA-AU 21 30741174 30741174 single base substitution C T intron_variant MELA-AU 21 30741450 30741450 single base substitution A C intron_variant MELA-AU 21 30741578 30741578 single base substitution C T intron_variant MELA-AU 21 30742147 30742147 single base substitution G A intron_variant MELA-AU 21 30742295 30742295 single base substitution C T intron_variant MELA-AU 21 30742596 30742596 single base substitution A T intron_variant MELA-AU 21 30742696 30742696 single base substitution C T intron_variant MELA-AU 21 30742713 30742713 single base substitution G C intron_variant MELA-AU 21 30742934 30742934 single base substitution C T intron_variant MELA-AU 21 30744020 30744020 single base substitution C T intron_variant MELA-AU 21 30744518 30744518 single base substitution T A intron_variant MELA-AU 21 30744759 30744759 single base substitution C T intron_variant MELA-AU 21 30744863 30744863 single base substitution C T intron_variant MELA-AU 21 30745331 30745331 single base substitution C T intron_variant MELA-AU 21 30745536 30745537 multiple base substitution (>=2bp and <=200bp) CC TT intron_variant MELA-AU 21 30745927 30745927 single base substitution C T intron_variant MELA-AU 21 30746697 30746697 single base substitution C T intron_variant MELA-AU 21 30747098 30747098 single base substitution C T intron_variant MELA-AU 21 30747315 30747315 single base substitution C T intron_variant MELA-AU 21 30747460 30747460 single base substitution C T intron_variant MELA-AU 21 30748368 30748369 multiple base substitution (>=2bp and <=200bp) CT TA intron_variant MELA-AU 21 30748395 30748395 single base substitution G A intron_variant MELA-AU 21 30748517 30748517 single base substitution C T intron_variant MELA-AU 21 30748600 30748600 single base substitution T C intron_variant MELA-AU 21 30748815 30748815 single base substitution C T intron_variant MELA-AU 21 30749350 30749350 single base substitution C T intron_variant MELA-AU 21 30749401 30749401 single base substitution C T intron_variant MELA-AU 21 30749411 30749411 single base substitution C T intron_variant MELA-AU 21 30749503 30749503 single base substitution A T intron_variant MELA-AU 21 30751510 30751510 single base substitution C T intron_variant MELA-AU 21 30752117 30752117 single base substitution G A intron_variant MELA-AU 21 30752345 30752345 single base substitution C T intron_variant MELA-AU 21 30754005 30754005 single base substitution G A intron_variant MELA-AU 21 30754260 30754260 single base substitution C T intron_variant MELA-AU 21 30756224 30756224 single base substitution G A intron_variant MELA-AU 21 30756226 30756226 single base substitution T C intron_variant MELA-AU 21 30756306 30756306 single base substitution C T intron_variant MELA-AU 21 30756643 30756643 single base substitution T A intron_variant MELA-AU 21 30756891 30756891 single base substitution C T intron_variant MELA-AU 21 30757982 30757982 single base substitution C T intron_variant MELA-AU 21 30758317 30758317 single base substitution C T intron_variant MELA-AU 21 30759086 30759086 single base substitution C T intron_variant MELA-AU 21 30759097 30759098 multiple base substitution (>=2bp and <=200bp) CC TT intron_variant MELA-AU 21 30759301 30759301 single base substitution C T intron_variant MELA-AU 21 30759964 30759964 single base substitution C T intron_variant MELA-AU 21 30760642 30760642 single base substitution C T intron_variant MELA-AU 21 30760993 30760993 single base substitution A G intron_variant MELA-AU 21 30761303 30761303 single base substitution C T intron_variant MELA-AU 21 30761796 30761796 single base substitution G A intron_variant MELA-AU 21 30762026 30762026 single base substitution C G intron_variant MELA-AU 21 30762054 30762054 single base substitution G A intron_variant MELA-AU 21 30762384 30762384 single base substitution C T intron_variant MELA-AU 21 30762824 30762824 single base substitution C T intron_variant MELA-AU 21 30762846 30762846 single base substitution C T intron_variant MELA-AU 21 30763319 30763319 single base substitution C T intron_variant MELA-AU 21 30763625 30763625 single base substitution C T intron_variant MELA-AU 21 30764250 30764250 single base substitution G A intron_variant MELA-AU 21 30764563 30764563 single base substitution G A intron_variant MELA-AU 21 30764577 30764577 single base substitution C T intron_variant MELA-AU 21 30764890 30764890 single base substitution G T intron_variant MELA-AU 21 30764962 30764962 single base substitution C T intron_variant MELA-AU 21 30765116 30765116 single base substitution T G intron_variant MELA-AU 21 30765923 30765923 single base substitution C T intron_variant MELA-AU 21 30765950 30765950 single base substitution C T intron_variant MELA-AU 21 30766549 30766549 single base substitution G A intron_variant MELA-AU 21 30766645 30766645 single base substitution C T intron_variant MELA-AU 21 30766888 30766888 single base substitution C G intron_variant MELA-AU 21 30766894 30766894 single base substitution C T intron_variant MELA-AU 21 30767559 30767560 multiple base substitution (>=2bp and <=200bp) TT AA intron_variant MELA-AU 21 30768353 30768353 single base substitution C T intron_variant MELA-AU 21 30768951 30768951 single base substitution G A intron_variant MELA-AU 21 30769228 30769228 single base substitution C A intron_variant MELA-AU 21 30769319 30769319 single base substitution G A intron_variant MELA-AU 21 30769361 30769361 single base substitution G A intron_variant MELA-AU 21 30769402 30769403 multiple base substitution (>=2bp and <=200bp) GG AA intron_variant MELA-AU 21 30769550 30769550 single base substitution C T intron_variant MELA-AU 21 30769897 30769897 single base substitution C T intron_variant MELA-AU 21 30770636 30770636 single base substitution C T intron_variant MELA-AU 21 30771817 30771817 single base substitution C T intron_variant MELA-AU 21 30772069 30772069 single base substitution C T intron_variant MELA-AU 21 30772257 30772257 single base substitution C T intron_variant MELA-AU 21 30772261 30772261 single base substitution A T intron_variant MELA-AU 21 30772344 30772344 single base substitution C T intron_variant MELA-AU 21 30772469 30772469 single base substitution C T intron_variant MELA-AU 21 30772593 30772593 single base substitution C T intron_variant MELA-AU 21 30772920 30772920 single base substitution C T intron_variant MELA-AU 21 30772967 30772967 single base substitution C T intron_variant MELA-AU 21 30773172 30773172 single base substitution C T intron_variant MELA-AU 21 30773227 30773227 single base substitution C T intron_variant MELA-AU 21 30773818 30773818 single base substitution C T intron_variant MELA-AU 21 30774122 30774122 single base substitution C T intron_variant MELA-AU 21 30774383 30774383 single base substitution C T intron_variant MELA-AU 21 30774710 30774710 single base substitution C T intron_variant MELA-AU 21 30774711 30774711 single base substitution C T intron_variant MELA-AU 21 30775001 30775001 single base substitution C T intron_variant MELA-AU 21 30775196 30775196 single base substitution C T intron_variant MELA-AU 21 30775417 30775417 single base substitution A T intron_variant MELA-AU 21 30775851 30775851 single base substitution C T intron_variant MELA-AU 21 30776392 30776392 single base substitution C T intron_variant MELA-AU 21 30777004 30777004 single base substitution G A intron_variant MELA-AU 21 30777097 30777097 single base substitution C T intron_variant MELA-AU 21 30777114 30777114 single base substitution G T intron_variant MELA-AU 21 30777156 30777156 single base substitution C T intron_variant MELA-AU 21 30777596 30777596 single base substitution C T intron_variant MELA-AU 21 30777755 30777755 single base substitution C T intron_variant MELA-AU 21 30777922 30777922 single base substitution C T intron_variant MELA-AU 21 30777923 30777923 single base substitution C T intron_variant MELA-AU 21 30777928 30777928 single base substitution C T intron_variant MELA-AU 21 30777968 30777968 single base substitution C T intron_variant MELA-AU 21 30777972 30777972 single base substitution C T intron_variant MELA-AU 21 30778035 30778035 single base substitution C T intron_variant MELA-AU 21 30778095 30778095 single base substitution C T intron_variant MELA-AU 21 30778143 30778143 single base substitution C T intron_variant MELA-AU 21 30778163 30778163 single base substitution C T intron_variant MELA-AU 21 30778204 30778204 single base substitution C T intron_variant MELA-AU 21 30778374 30778374 single base substitution C T intron_variant MELA-AU 21 30778545 30778545 single base substitution C T intron_variant MELA-AU 21 30778626 30778626 single base substitution C T intron_variant MELA-AU 21 30779422 30779422 single base substitution C T intron_variant MELA-AU 21 30779496 30779497 multiple base substitution (>=2bp and <=200bp) GG AA intron_variant MELA-AU 21 30780325 30780325 single base substitution T G intron_variant MELA-AU 21 30780465 30780465 single base substitution C T intron_variant MELA-AU 21 30780845 30780845 single base substitution C T intron_variant MELA-AU 21 30781114 30781114 single base substitution G A intron_variant MELA-AU 21 30781431 30781431 single base substitution C T intron_variant MELA-AU 21 30781856 30781856 single base substitution A T intron_variant MELA-AU 21 30782105 30782105 single base substitution C T intron_variant MELA-AU 21 30782295 30782295 single base substitution C T intron_variant MELA-AU 21 30782403 30782403 single base substitution C T intron_variant MELA-AU 21 30782519 30782519 single base substitution C T intron_variant MELA-AU 21 30782626 30782626 single base substitution C T intron_variant MELA-AU 21 30782936 30782936 single base substitution G A intron_variant MELA-AU 21 30783069 30783069 single base substitution C T intron_variant MELA-AU 21 30783684 30783684 single base substitution T G intron_variant MELA-AU 21 30783833 30783833 single base substitution C T intron_variant MELA-AU 21 30783912 30783912 single base substitution C T intron_variant MELA-AU 21 30784272 30784272 single base substitution C T intron_variant MELA-AU 21 30784920 30784920 single base substitution C T intron_variant MELA-AU 21 30784975 30784975 single base substitution T C intron_variant MELA-AU 21 30785100 30785100 single base substitution C T intron_variant MELA-AU 21 30785102 30785102 single base substitution C T intron_variant MELA-AU 21 30785110 30785110 single base substitution C T intron_variant MELA-AU 21 30785128 30785128 single base substitution C T intron_variant MELA-AU 21 30785412 30785412 single base substitution C T intron_variant MELA-AU 21 30785727 30785727 single base substitution C T intron_variant MELA-AU 21 30785833 30785833 single base substitution A G intron_variant MELA-AU 21 30785861 30785861 single base substitution C T intron_variant MELA-AU 21 30785887 30785887 single base substitution C T intron_variant MELA-AU 21 30786138 30786138 single base substitution C T intron_variant MELA-AU 21 30786325 30786325 single base substitution T A intron_variant MELA-AU 21 30786457 30786457 single base substitution G C intron_variant MELA-AU 21 30786482 30786482 single base substitution C T intron_variant MELA-AU 21 30786522 30786522 single base substitution C T intron_variant MELA-AU 21 30787375 30787375 single base substitution A C intron_variant MELA-AU 21 30787456 30787456 single base substitution G A intron_variant MELA-AU 21 30787773 30787773 single base substitution C T intron_variant MELA-AU 21 30788159 30788159 single base substitution C T intron_variant MELA-AU 21 30788438 30788438 single base substitution A G intron_variant MELA-AU 21 30788640 30788640 single base substitution T G intron_variant MELA-AU 21 30788653 30788653 single base substitution C T intron_variant MELA-AU 21 30788679 30788679 single base substitution C T intron_variant MELA-AU 21 30789411 30789411 single base substitution C T intron_variant MELA-AU 21 30789760 30789760 single base substitution C T intron_variant MELA-AU 21 30790352 30790352 single base substitution C T intron_variant MELA-AU 21 30790466 30790466 single base substitution C T intron_variant MELA-AU 21 30790721 30790721 single base substitution G A intron_variant MELA-AU 21 30791760 30791760 single base substitution C T intron_variant MELA-AU 21 30792036 30792036 single base substitution C T intron_variant MELA-AU 21 30792085 30792085 single base substitution G A intron_variant MELA-AU 21 30792385 30792385 single base substitution C T intron_variant MELA-AU 21 30792403 30792403 single base substitution T A intron_variant MELA-AU 21 30792405 30792405 single base substitution C T intron_variant MELA-AU 21 30793577 30793577 single base substitution C T intron_variant MELA-AU 21 30794821 30794821 single base substitution C T intron_variant MELA-AU 21 30795394 30795394 single base substitution A C intron_variant MELA-AU 21 30795450 30795450 single base substitution C T intron_variant MELA-AU 21 30795513 30795513 single base substitution C T intron_variant MELA-AU 21 30795578 30795578 single base substitution C T intron_variant MELA-AU 21 30795852 30795852 single base substitution C A intron_variant MELA-AU 21 30796088 30796088 single base substitution C T intron_variant MELA-AU 21 30796754 30796754 single base substitution C T intron_variant MELA-AU 21 30796862 30796862 single base substitution C T intron_variant MELA-AU 21 30797207 30797207 single base substitution C T intron_variant MELA-AU 21 30797382 30797382 single base substitution C T intron_variant MELA-AU 21 30797383 30797383 single base substitution C T intron_variant MELA-AU 21 30797386 30797386 single base substitution C T intron_variant MELA-AU 21 30797672 30797672 single base substitution T C intron_variant MELA-AU 21 30798001 30798001 single base substitution C T intron_variant MELA-AU 21 30798205 30798205 single base substitution T C intron_variant MELA-AU 21 30798615 30798615 deletion of <=200bp A - intron_variant MELA-AU 21 30799029 30799029 single base substitution C T intron_variant MELA-AU 21 30799037 30799037 single base substitution C T intron_variant MELA-AU 21 30799194 30799194 single base substitution C T intron_variant MELA-AU 21 30799281 30799281 single base substitution C T intron_variant MELA-AU 21 30799337 30799338 multiple base substitution (>=2bp and <=200bp) CC TT intron_variant MELA-AU 21 30799430 30799430 single base substitution G A intron_variant MELA-AU 21 30799689 30799689 single base substitution G A intron_variant MELA-AU 21 30799846 30799847 multiple base substitution (>=2bp and <=200bp) CC TT intron_variant MELA-AU 21 30799867 30799867 single base substitution T G intron_variant MELA-AU 21 30799888 30799888 single base substitution C T intron_variant MELA-AU 21 30799990 30799990 single base substitution G T intron_variant MELA-AU 21 30800062 30800062 single base substitution G A intron_variant MELA-AU 21 30800496 30800496 single base substitution G A intron_variant MELA-AU 21 30801230 30801230 single base substitution G A intron_variant MELA-AU 21 30801276 30801276 single base substitution C T intron_variant MELA-AU 21 30801297 30801297 single base substitution G A intron_variant MELA-AU 21 30801432 30801432 single base substitution T C intron_variant MELA-AU 21 30802628 30802628 single base substitution C T intron_variant MELA-AU 21 30802643 30802644 multiple base substitution (>=2bp and <=200bp) AG GA intron_variant MELA-AU 21 30803070 30803070 single base substitution C T intron_variant MELA-AU 21 30803213 30803213 single base substitution C T intron_variant MELA-AU 21 30803315 30803315 single base substitution G A intron_variant MELA-AU 21 30803500 30803500 single base substitution C T intron_variant MELA-AU 21 30803630 30803630 single base substitution C T intron_variant MELA-AU 21 30803731 30803731 single base substitution A T intron_variant MELA-AU 21 30803886 30803886 single base substitution A G intron_variant MELA-AU 21 30803904 30803904 single base substitution C T intron_variant MELA-AU 21 30803999 30803999 single base substitution C T intron_variant MELA-AU 21 30804338 30804338 single base substitution C T intron_variant MELA-AU 21 30804361 30804361 single base substitution C T intron_variant MELA-AU 21 30804454 30804454 single base substitution C T intron_variant MELA-AU 21 30804463 30804463 single base substitution C T intron_variant MELA-AU 21 30804519 30804519 single base substitution A T intron_variant MELA-AU 21 30804574 30804574 single base substitution T C intron_variant MELA-AU 21 30804769 30804769 single base substitution G A intron_variant MELA-AU 21 30806188 30806188 single base substitution C T intron_variant MELA-AU 21 30806231 30806231 single base substitution C T intron_variant MELA-AU 21 30806234 30806234 single base substitution C T intron_variant MELA-AU 21 30806306 30806306 single base substitution C T intron_variant MELA-AU 21 30806526 30806526 single base substitution C T intron_variant MELA-AU 21 30806625 30806625 single base substitution C T intron_variant MELA-AU 21 30806678 30806678 single base substitution C T intron_variant MELA-AU 21 30806885 30806885 single base substitution C T intron_variant MELA-AU 21 30807139 30807139 single base substitution C T intron_variant MELA-AU 21 30807323 30807323 single base substitution C T intron_variant MELA-AU 21 30807389 30807389 single base substitution C T intron_variant MELA-AU 21 30808058 30808058 single base substitution C T intron_variant MELA-AU 21 30808920 30808920 single base substitution C T intron_variant MELA-AU 21 30808966 30808966 single base substitution C T intron_variant MELA-AU 21 30809586 30809586 single base substitution C T intron_variant MELA-AU 21 30809690 30809691 multiple base substitution (>=2bp and <=200bp) CC TT intron_variant MELA-AU 21 30809718 30809718 single base substitution C T intron_variant MELA-AU 21 30809782 30809782 single base substitution C T intron_variant MELA-AU 21 30810323 30810323 single base substitution C T intron_variant MELA-AU 21 30810717 30810717 single base substitution C T intron_variant MELA-AU 21 30810927 30810927 single base substitution T A intron_variant MELA-AU 21 30811403 30811403 single base substitution C T intron_variant MELA-AU 21 30811583 30811583 single base substitution A C intron_variant MELA-AU 21 30812084 30812084 single base substitution G A intron_variant MELA-AU 21 30812096 30812096 deletion of <=200bp G - intron_variant MELA-AU 21 30812403 30812403 single base substitution C T intron_variant MELA-AU 21 30812556 30812556 single base substitution C T intron_variant MELA-AU 21 30812562 30812562 single base substitution C T intron_variant MELA-AU 21 30812926 30812926 single base substitution C T intron_variant MELA-AU 21 30814568 30814568 single base substitution C T intron_variant MELA-AU 21 30815144 30815144 single base substitution C T intron_variant MELA-AU 21 30815317 30815317 single base substitution C T intron_variant MELA-AU 21 30815406 30815406 single base substitution C T intron_variant MELA-AU 21 30815767 30815767 single base substitution G A intron_variant MELA-AU 21 30815988 30815988 single base substitution T A intron_variant MELA-AU 21 30816041 30816041 single base substitution C T intron_variant MELA-AU 21 30816289 30816289 single base substitution C T intron_variant MELA-AU 21 30816683 30816683 single base substitution G A intron_variant MELA-AU 21 30817117 30817117 single base substitution G A intron_variant MELA-AU 21 30817432 30817432 single base substitution G A intron_variant MELA-AU 21 30817753 30817753 single base substitution C T intron_variant MELA-AU 21 30817794 30817794 single base substitution C T intron_variant MELA-AU 21 30818123 30818123 single base substitution A T intron_variant MELA-AU 21 30818322 30818322 single base substitution T A intron_variant MELA-AU 21 30818550 30818550 single base substitution C T intron_variant MELA-AU 21 30818841 30818841 single base substitution C T intron_variant MELA-AU 21 30819012 30819012 single base substitution C T intron_variant MELA-AU 21 30819536 30819536 single base substitution C T intron_variant MELA-AU 21 30819584 30819584 single base substitution C T intron_variant MELA-AU 21 30819614 30819614 single base substitution C T intron_variant MELA-AU 21 30819615 30819615 single base substitution C T intron_variant MELA-AU 21 30820002 30820002 single base substitution G A intron_variant MELA-AU 21 30820094 30820094 single base substitution C T intron_variant MELA-AU 21 30820366 30820366 single base substitution T G intron_variant MELA-AU 21 30820496 30820496 single base substitution A G intron_variant MELA-AU 21 30820583 30820583 single base substitution C T intron_variant MELA-AU 21 30820814 30820814 single base substitution C T intron_variant MELA-AU 21 30821070 30821070 single base substitution G A intron_variant MELA-AU 21 30821093 30821093 single base substitution C T intron_variant MELA-AU 21 30821267 30821267 single base substitution C T intron_variant MELA-AU 21 30821596 30821596 single base substitution C T intron_variant MELA-AU 21 30821634 30821634 single base substitution T A intron_variant MELA-AU 21 30821659 30821659 single base substitution C T intron_variant MELA-AU 21 30821731 30821731 single base substitution A G intron_variant MELA-AU 21 30821758 30821758 single base substitution C T intron_variant MELA-AU 21 30822140 30822140 single base substitution C T intron_variant MELA-AU 21 30822315 30822315 single base substitution G A intron_variant MELA-AU 21 30822399 30822399 single base substitution C T intron_variant MELA-AU 21 30822418 30822418 single base substitution C T intron_variant MELA-AU 21 30822587 30822587 single base substitution C A intron_variant MELA-AU 21 30822714 30822714 single base substitution C T intron_variant MELA-AU 21 30823681 30823681 single base substitution G A intron_variant MELA-AU 21 30823869 30823869 single base substitution C T intron_variant MELA-AU 21 30824009 30824009 single base substitution G A intron_variant MELA-AU 21 30824190 30824190 single base substitution C T intron_variant MELA-AU 21 30824219 30824219 single base substitution C T intron_variant MELA-AU 21 30824234 30824234 single base substitution C T intron_variant MELA-AU 21 30824390 30824390 single base substitution C T intron_variant MELA-AU 21 30824451 30824451 single base substitution C T intron_variant MELA-AU 21 30824517 30824517 single base substitution C T intron_variant MELA-AU 21 30825050 30825050 single base substitution C T intron_variant MELA-AU 21 30825182 30825182 single base substitution C T intron_variant MELA-AU 21 30825221 30825221 single base substitution T C intron_variant MELA-AU 21 30825243 30825243 single base substitution C T intron_variant MELA-AU 21 30825331 30825331 single base substitution C T intron_variant MELA-AU 21 30825688 30825688 single base substitution C T intron_variant MELA-AU 21 30826360 30826360 single base substitution T C intron_variant MELA-AU 21 30826941 30826941 single base substitution G A intron_variant MELA-AU 21 30827332 30827332 single base substitution C T intron_variant MELA-AU 21 30827978 30827978 single base substitution C T intron_variant MELA-AU 21 30828476 30828476 single base substitution C T intron_variant MELA-AU 21 30828758 30828758 single base substitution G A intron_variant MELA-AU 21 30828876 30828876 single base substitution C T intron_variant MELA-AU 21 30828899 30828899 single base substitution C T intron_variant MELA-AU 21 30829642 30829642 single base substitution C T intron_variant MELA-AU 21 30829768 30829768 single base substitution G A intron_variant MELA-AU 21 30829872 30829872 single base substitution C G intron_variant MELA-AU 21 30830255 30830255 single base substitution G T intron_variant MELA-AU 21 30830360 30830360 single base substitution C T intron_variant MELA-AU 21 30830720 30830720 single base substitution C T intron_variant MELA-AU 21 30830766 30830766 single base substitution C T intron_variant MELA-AU 21 30831138 30831138 single base substitution C T intron_variant MELA-AU 21 30831211 30831211 single base substitution C T intron_variant MELA-AU 21 30831530 30831530 single base substitution C T intron_variant MELA-AU 21 30831868 30831868 single base substitution G A intron_variant MELA-AU 21 30831911 30831911 single base substitution G A intron_variant MELA-AU 21 30832033 30832033 single base substitution G A intron_variant MELA-AU 21 30832173 30832173 single base substitution C T intron_variant MELA-AU 21 30832562 30832562 single base substitution C T intron_variant MELA-AU 21 30834031 30834031 single base substitution C T intron_variant MELA-AU 21 30834222 30834222 single base substitution C T intron_variant MELA-AU 21 30834236 30834236 single base substitution C T intron_variant MELA-AU 21 30834310 30834310 single base substitution C T intron_variant MELA-AU 21 30834398 30834398 single base substitution C T intron_variant MELA-AU 21 30834676 30834676 single base substitution A T intron_variant MELA-AU 21 30834843 30834843 single base substitution C T intron_variant MELA-AU 21 30834876 30834876 single base substitution C T intron_variant MELA-AU 21 30834898 30834898 single base substitution C T intron_variant MELA-AU 21 30835055 30835055 single base substitution G T intron_variant MELA-AU 21 30835568 30835568 single base substitution C T intron_variant MELA-AU 21 30835597 30835597 single base substitution G A intron_variant MELA-AU 21 30835854 30835854 single base substitution C T intron_variant MELA-AU 21 30836577 30836577 single base substitution A C intron_variant MELA-AU 21 30836866 30836866 single base substitution G A intron_variant MELA-AU 21 30837266 30837266 single base substitution C T intron_variant MELA-AU 21 30837434 30837434 single base substitution G A intron_variant MELA-AU 21 30837909 30837909 single base substitution C T intron_variant MELA-AU 21 30838486 30838486 single base substitution C T intron_variant MELA-AU 21 30838497 30838497 single base substitution C T intron_variant MELA-AU 21 30838799 30838799 single base substitution A G intron_variant MELA-AU 21 30839248 30839248 single base substitution C T intron_variant MELA-AU 21 30839496 30839496 single base substitution C T intron_variant MELA-AU 21 30839747 30839747 single base substitution C T intron_variant MELA-AU 21 30839780 30839780 single base substitution C T intron_variant MELA-AU 21 30839934 30839934 single base substitution C T intron_variant MELA-AU 21 30840152 30840152 single base substitution G A intron_variant MELA-AU 21 30840287 30840287 single base substitution C T intron_variant MELA-AU 21 30840739 30840739 single base substitution C T intron_variant MELA-AU 21 30840890 30840890 single base substitution C T intron_variant MELA-AU 21 30840908 30840908 single base substitution G A intron_variant MELA-AU 21 30840982 30840982 single base substitution G A intron_variant MELA-AU 21 30841144 30841144 single base substitution C T intron_variant MELA-AU 21 30842200 30842200 single base substitution A G intron_variant MELA-AU 21 30842621 30842621 single base substitution C T intron_variant MELA-AU 21 30842898 30842898 single base substitution A C intron_variant MELA-AU 21 30843880 30843880 single base substitution T G intron_variant MELA-AU 21 30843963 30843963 single base substitution C T intron_variant MELA-AU 21 30845101 30845101 single base substitution C T intron_variant MELA-AU 21 30845222 30845222 single base substitution G A intron_variant MELA-AU 21 30846002 30846002 single base substitution C T intron_variant MELA-AU 21 30846163 30846163 single base substitution C T intron_variant MELA-AU 21 30846175 30846175 single base substitution C T intron_variant MELA-AU 21 30846620 30846621 multiple base substitution (>=2bp and <=200bp) CC TT intron_variant MELA-AU 21 30846775 30846775 single base substitution A G intron_variant MELA-AU 21 30846784 30846784 single base substitution C A intron_variant MELA-AU 21 30847192 30847192 single base substitution C T intron_variant MELA-AU 21 30847829 30847829 single base substitution C T intron_variant MELA-AU 21 30848071 30848071 single base substitution C T intron_variant MELA-AU 21 30848339 30848339 single base substitution G A intron_variant MELA-AU 21 30848995 30848995 single base substitution G C intron_variant MELA-AU 21 30850067 30850067 single base substitution C T intron_variant MELA-AU 21 30850469 30850469 single base substitution C T intron_variant MELA-AU 21 30850635 30850635 single base substitution C T intron_variant MELA-AU 21 30851292 30851292 single base substitution A T intron_variant MELA-AU 21 30851294 30851294 single base substitution G A intron_variant MELA-AU 21 30851578 30851578 single base substitution C T intron_variant MELA-AU 21 30851736 30851736 single base substitution C T intron_variant MELA-AU 21 30852051 30852051 single base substitution G A intron_variant MELA-AU 21 30852690 30852690 single base substitution C T intron_variant MELA-AU 21 30852823 30852823 single base substitution C T intron_variant MELA-AU 21 30852940 30852940 single base substitution A C intron_variant MELA-AU 21 30853008 30853008 single base substitution C T intron_variant MELA-AU 21 30853300 30853300 single base substitution T A intron_variant MELA-AU 21 30853803 30853804 multiple base substitution (>=2bp and <=200bp) CC TT intron_variant MELA-AU 21 30853889 30853889 single base substitution C T intron_variant MELA-AU 21 30854048 30854048 single base substitution C T intron_variant MELA-AU 21 30854099 30854099 single base substitution C T intron_variant MELA-AU 21 30854193 30854193 single base substitution G A intron_variant MELA-AU 21 30854827 30854827 single base substitution G A intron_variant MELA-AU 21 30854903 30854903 single base substitution G A intron_variant MELA-AU 21 30855553 30855553 single base substitution G A intron_variant MELA-AU 21 30856337 30856337 single base substitution C T intron_variant MELA-AU 21 30856386 30856386 single base substitution C T intron_variant MELA-AU 21 30856728 30856728 single base substitution C T intron_variant MELA-AU 21 30857152 30857152 single base substitution C T intron_variant MELA-AU 21 30857315 30857315 single base substitution C T intron_variant MELA-AU 21 30857447 30857447 single base substitution G A intron_variant MELA-AU 21 30857776 30857776 single base substitution C T intron_variant MELA-AU 21 30857875 30857875 single base substitution C T intron_variant MELA-AU 21 30858205 30858205 single base substitution C G intron_variant MELA-AU 21 30858348 30858348 single base substitution G C intron_variant MELA-AU 21 30858711 30858711 single base substitution C T intron_variant MELA-AU 21 30859041 30859041 single base substitution C T intron_variant MELA-AU 21 30859169 30859169 single base substitution C T intron_variant MELA-AU 21 30859524 30859524 single base substitution C T intron_variant MELA-AU 21 30859589 30859589 single base substitution C T intron_variant MELA-AU 21 30860227 30860227 single base substitution C T intron_variant MELA-AU 21 30860302 30860302 single base substitution G A intron_variant MELA-AU 21 30860719 30860719 single base substitution C T intron_variant MELA-AU 21 30861168 30861168 single base substitution G A intron_variant MELA-AU 21 30861935 30861935 single base substitution C T intron_variant MELA-AU 21 30862087 30862087 single base substitution G A intron_variant MELA-AU 21 30862182 30862182 single base substitution G A intron_variant MELA-AU 21 30862520 30862520 single base substitution C T intron_variant MELA-AU 21 30863069 30863069 single base substitution C T intron_variant MELA-AU 21 30863249 30863249 single base substitution C T intron_variant MELA-AU 21 30863298 30863298 single base substitution T A intron_variant MELA-AU 21 30863372 30863372 single base substitution G A intron_variant MELA-AU 21 30863750 30863750 single base substitution C T intron_variant MELA-AU 21 30864279 30864279 single base substitution C T intron_variant MELA-AU 21 30864558 30864558 single base substitution C T intron_variant MELA-AU 21 30864676 30864676 single base substitution C T intron_variant MELA-AU 21 30865800 30865800 single base substitution G A intron_variant MELA-AU 21 30865877 30865877 single base substitution C T intron_variant MELA-AU 21 30866083 30866083 single base substitution G A intron_variant MELA-AU 21 30866105 30866105 single base substitution C T intron_variant MELA-AU 21 30866539 30866539 single base substitution C T intron_variant MELA-AU 21 30866959 30866959 single base substitution C T intron_variant MELA-AU 21 30867200 30867200 single base substitution G A intron_variant MELA-AU 21 30867259 30867259 single base substitution C T intron_variant MELA-AU 21 30867323 30867323 single base substitution C T intron_variant MELA-AU 21 30867532 30867532 single base substitution C T intron_variant MELA-AU 21 30867983 30867983 single base substitution G A intron_variant MELA-AU 21 30868055 30868055 single base substitution C T intron_variant MELA-AU 21 30868814 30868814 single base substitution T G intron_variant MELA-AU 21 30869066 30869067 multiple base substitution (>=2bp and <=200bp) GG AA intron_variant MELA-AU 21 30869091 30869091 single base substitution G A intron_variant MELA-AU 21 30869143 30869143 single base substitution C T intron_variant MELA-AU 21 30869349 30869349 single base substitution C T intron_variant MELA-AU 21 30869361 30869361 single base substitution C T intron_variant MELA-AU 21 30869622 30869623 multiple base substitution (>=2bp and <=200bp) CC TT intron_variant MELA-AU 21 30869669 30869669 single base substitution C T intron_variant MELA-AU 21 30869859 30869859 single base substitution C T intron_variant MELA-AU 21 30869873 30869873 single base substitution C T intron_variant MELA-AU 21 30870119 30870119 single base substitution C T intron_variant MELA-AU 21 30870349 30870349 single base substitution A T intron_variant MELA-AU 21 30870466 30870466 single base substitution C T intron_variant MELA-AU 21 30870838 30870838 single base substitution C T intron_variant MELA-AU 21 30871168 30871168 single base substitution C T intron_variant MELA-AU 21 30871371 30871371 single base substitution C T intron_variant MELA-AU 21 30871409 30871409 single base substitution A G intron_variant MELA-AU 21 30871478 30871478 single base substitution A C intron_variant MELA-AU 21 30871522 30871522 single base substitution C T intron_variant MELA-AU 21 30871523 30871523 single base substitution C T intron_variant MELA-AU 21 30871694 30871694 single base substitution C T intron_variant MELA-AU 21 30871848 30871848 single base substitution C T intron_variant MELA-AU 21 30871867 30871867 single base substitution G A intron_variant MELA-AU 21 30872068 30872068 single base substitution C T intron_variant MELA-AU 21 30872251 30872251 single base substitution C T intron_variant MELA-AU 21 30872827 30872827 single base substitution T A intron_variant MELA-AU 21 30873003 30873003 single base substitution C T intron_variant MELA-AU 21 30873301 30873301 single base substitution A C intron_variant MELA-AU 21 30873341 30873341 single base substitution C T intron_variant MELA-AU 21 30873354 30873354 single base substitution T G intron_variant MELA-AU 21 30873664 30873664 single base substitution G A intron_variant MELA-AU 21 30873749 30873749 single base substitution C T intron_variant MELA-AU 21 30874120 30874120 single base substitution C T intron_variant MELA-AU 21 30874902 30874902 single base substitution C T intron_variant MELA-AU 21 30875344 30875344 single base substitution G A intron_variant MELA-AU 21 30875587 30875587 single base substitution C T intron_variant MELA-AU 21 30875742 30875742 single base substitution G A intron_variant MELA-AU 21 30875985 30875985 single base substitution A T intron_variant MELA-AU 21 30876547 30876547 single base substitution C T intron_variant MELA-AU 21 30876893 30876893 single base substitution C T intron_variant MELA-AU 21 30876910 30876910 single base substitution C T intron_variant MELA-AU 21 30877078 30877078 single base substitution G A intron_variant MELA-AU 21 30877160 30877160 single base substitution C T intron_variant MELA-AU 21 30877169 30877169 single base substitution G A intron_variant MELA-AU 21 30877361 30877361 single base substitution A G intron_variant MELA-AU 21 30877423 30877423 single base substitution C T intron_variant MELA-AU 21 30877836 30877836 single base substitution C T intron_variant MELA-AU 21 30877909 30877909 single base substitution G A intron_variant MELA-AU 21 30878260 30878260 single base substitution G A intron_variant MELA-AU 21 30878931 30878931 single base substitution G A intron_variant MELA-AU 21 30879341 30879341 single base substitution C T intron_variant MELA-AU 21 30879662 30879662 single base substitution C T intron_variant MELA-AU 21 30879865 30879865 single base substitution G A intron_variant MELA-AU 21 30880148 30880148 single base substitution C T intron_variant MELA-AU 21 30880723 30880723 single base substitution C T intron_variant MELA-AU 21 30881570 30881570 single base substitution T A intron_variant MELA-AU 21 30881724 30881724 single base substitution A C intron_variant MELA-AU 21 30881904 30881904 single base substitution G T intron_variant MELA-AU 21 30881959 30881959 single base substitution G A intron_variant MELA-AU 21 30882071 30882071 single base substitution C T intron_variant MELA-AU 21 30882137 30882137 single base substitution C T intron_variant MELA-AU 21 30882209 30882209 single base substitution C T intron_variant MELA-AU 21 30882401 30882401 single base substitution C T intron_variant MELA-AU 21 30882554 30882554 single base substitution G A intron_variant MELA-AU 21 30882789 30882789 single base substitution C G intron_variant MELA-AU 21 30882810 30882810 single base substitution C T intron_variant MELA-AU 21 30883018 30883018 single base substitution G C intron_variant MELA-AU 21 30883104 30883104 single base substitution C T intron_variant MELA-AU 21 30883126 30883126 single base substitution C T intron_variant MELA-AU 21 30883272 30883272 single base substitution C T intron_variant MELA-AU 21 30883273 30883273 single base substitution A G intron_variant MELA-AU 21 30883275 30883275 single base substitution A C intron_variant MELA-AU 21 30883406 30883406 single base substitution G A intron_variant MELA-AU 21 30883731 30883731 single base substitution C T intron_variant MELA-AU 21 30883868 30883868 single base substitution T C intron_variant MELA-AU 21 30884017 30884017 single base substitution C T intron_variant MELA-AU 21 30884057 30884057 single base substitution C T intron_variant MELA-AU 21 30884361 30884361 single base substitution C A intron_variant MELA-AU 21 30884585 30884585 single base substitution G A intron_variant MELA-AU 21 30884889 30884889 single base substitution G A intron_variant MELA-AU 21 30884905 30884905 single base substitution C T intron_variant MELA-AU 21 30885289 30885289 single base substitution C T intron_variant MELA-AU 21 30885471 30885471 single base substitution G A intron_variant MELA-AU 21 30885738 30885738 single base substitution G A intron_variant MELA-AU 21 30886149 30886149 single base substitution C T intron_variant MELA-AU 21 30886290 30886290 single base substitution C T intron_variant MELA-AU 21 30886363 30886363 single base substitution C T intron_variant MELA-AU 21 30886412 30886412 single base substitution G A intron_variant MELA-AU 21 30886464 30886464 single base substitution G A intron_variant MELA-AU 21 30886478 30886478 single base substitution A G intron_variant MELA-AU 21 30886721 30886721 single base substitution G A intron_variant MELA-AU 21 30886749 30886749 single base substitution C T intron_variant MELA-AU 21 30887328 30887328 single base substitution C T intron_variant MELA-AU 21 30887640 30887640 single base substitution C T intron_variant MELA-AU 21 30887693 30887693 single base substitution T C intron_variant MELA-AU 21 30887695 30887695 single base substitution G T intron_variant MELA-AU 21 30887976 30887976 single base substitution C T intron_variant MELA-AU 21 30888027 30888027 single base substitution T A intron_variant MELA-AU 21 30888686 30888686 single base substitution C T intron_variant MELA-AU 21 30888699 30888699 single base substitution T G intron_variant MELA-AU 21 30888725 30888725 single base substitution G A intron_variant MELA-AU 21 30888919 30888919 single base substitution C T intron_variant MELA-AU 21 30888952 30888952 single base substitution C T intron_variant MELA-AU 21 30889078 30889078 single base substitution C T intron_variant MELA-AU 21 30889103 30889103 single base substitution C T intron_variant MELA-AU 21 30889121 30889121 single base substitution G T intron_variant MELA-AU 21 30889581 30889581 single base substitution C T intron_variant MELA-AU 21 30889762 30889762 single base substitution T C intron_variant MELA-AU 21 30890172 30890172 single base substitution C T intron_variant MELA-AU 21 30890285 30890285 single base substitution C T intron_variant MELA-AU 21 30890851 30890851 single base substitution C T intron_variant MELA-AU 21 30890918 30890918 single base substitution A G intron_variant MELA-AU 21 30890955 30890955 single base substitution G A intron_variant MELA-AU 21 30891207 30891207 single base substitution G A intron_variant MELA-AU 21 30891244 30891244 single base substitution C T intron_variant MELA-AU 21 30891293 30891293 single base substitution G A intron_variant MELA-AU 21 30891454 30891454 single base substitution C T intron_variant MELA-AU 21 30891752 30891752 single base substitution C T intron_variant MELA-AU 21 30891910 30891910 single base substitution C T intron_variant MELA-AU 21 30891945 30891945 single base substitution C T intron_variant MELA-AU 21 30892375 30892375 single base substitution G A intron_variant MELA-AU 21 30893362 30893362 single base substitution T C intron_variant MELA-AU 21 30893394 30893394 single base substitution C T intron_variant MELA-AU 21 30893625 30893625 single base substitution C T intron_variant MELA-AU 21 30894013 30894013 single base substitution C T intron_variant MELA-AU 21 30894577 30894577 single base substitution G A intron_variant MELA-AU 21 30894608 30894608 single base substitution T A intron_variant MELA-AU 21 30894733 30894733 single base substitution C T intron_variant MELA-AU 21 30894812 30894812 single base substitution C T intron_variant MELA-AU 21 30895021 30895021 single base substitution G C intron_variant MELA-AU 21 30895671 30895671 single base substitution C T intron_variant MELA-AU 21 30895790 30895790 single base substitution G A intron_variant MELA-AU 21 30895890 30895890 single base substitution C T intron_variant MELA-AU 21 30896343 30896343 single base substitution C T intron_variant MELA-AU 21 30896364 30896364 single base substitution C T intron_variant MELA-AU 21 30896666 30896666 single base substitution C T intron_variant MELA-AU 21 30896703 30896703 single base substitution T C intron_variant MELA-AU 21 30897089 30897089 single base substitution G T intron_variant MELA-AU 21 30897189 30897189 single base substitution G A intron_variant MELA-AU 21 30897269 30897269 single base substitution C T intron_variant MELA-AU 21 30897438 30897438 single base substitution C T intron_variant MELA-AU 21 30897442 30897442 single base substitution C T intron_variant MELA-AU 21 30897655 30897655 single base substitution C T intron_variant MELA-AU 21 30897907 30897907 single base substitution C T intron_variant MELA-AU 21 30897908 30897908 single base substitution C T intron_variant MELA-AU 21 30897955 30897955 single base substitution C T intron_variant MELA-AU 21 30898249 30898249 single base substitution G A intron_variant MELA-AU 21 30898313 30898313 single base substitution G A intron_variant MELA-AU 21 30898352 30898352 single base substitution C T intron_variant MELA-AU 21 30898662 30898662 single base substitution G A intron_variant MELA-AU 21 30898697 30898697 single base substitution C T intron_variant MELA-AU 21 30898765 30898765 single base substitution C T intron_variant MELA-AU 21 30898852 30898852 deletion of <=200bp C - intron_variant MELA-AU 21 30898916 30898916 single base substitution G A intron_variant MELA-AU 21 30899356 30899356 single base substitution C T intron_variant MELA-AU 21 30899357 30899357 single base substitution C T intron_variant MELA-AU 21 30899592 30899592 single base substitution C T intron_variant MELA-AU 21 30899785 30899785 single base substitution C T intron_variant MELA-AU 21 30899885 30899885 single base substitution G A intron_variant MELA-AU 21 30899913 30899913 single base substitution C T intron_variant MELA-AU 21 30899998 30899998 single base substitution C T intron_variant MELA-AU 21 30900073 30900073 single base substitution C T intron_variant MELA-AU 21 30900571 30900571 single base substitution C T intron_variant MELA-AU 21 30900638 30900638 single base substitution G A intron_variant MELA-AU 21 30900671 30900671 single base substitution C T intron_variant MELA-AU 21 30901043 30901043 single base substitution C T intron_variant MELA-AU 21 30901367 30901367 single base substitution G A intron_variant MELA-AU 21 30901399 30901399 single base substitution C T intron_variant MELA-AU 21 30901400 30901400 single base substitution C T intron_variant MELA-AU 21 30901822 30901822 single base substitution C T intron_variant MELA-AU 21 30902024 30902024 single base substitution G A intron_variant MELA-AU 21 30902102 30902102 single base substitution G A intron_variant MELA-AU 21 30902304 30902304 single base substitution C T intron_variant MELA-AU 21 30902385 30902385 single base substitution C A intron_variant MELA-AU 21 30902805 30902805 single base substitution G A intron_variant MELA-AU 21 30902905 30902905 single base substitution G A intron_variant MELA-AU 21 30902914 30902914 single base substitution C T intron_variant MELA-AU 21 30903031 30903031 single base substitution G A intron_variant MELA-AU 21 30903063 30903063 single base substitution G A intron_variant MELA-AU 21 30903290 30903290 single base substitution T G intron_variant MELA-AU 21 30904490 30904490 single base substitution G T intron_variant MELA-AU 21 30904580 30904580 single base substitution C T intron_variant MELA-AU 21 30905270 30905270 single base substitution T A intron_variant MELA-AU 21 30905807 30905807 single base substitution C T intron_variant MELA-AU 21 30906072 30906073 multiple base substitution (>=2bp and <=200bp) TC AT intron_variant MELA-AU 21 30906092 30906092 single base substitution G A intron_variant MELA-AU 21 30906314 30906314 single base substitution G A intron_variant MELA-AU 21 30906545 30906545 single base substitution C T intron_variant MELA-AU 21 30906594 30906594 single base substitution G A intron_variant MELA-AU 21 30906640 30906640 single base substitution C T intron_variant MELA-AU 21 30906732 30906732 single base substitution T G intron_variant MELA-AU 21 30907069 30907069 single base substitution C T intron_variant MELA-AU 21 30907145 30907145 single base substitution G T intron_variant MELA-AU 21 30907374 30907374 single base substitution A T intron_variant MELA-AU 21 30907670 30907670 single base substitution T C intron_variant MELA-AU 21 30907781 30907781 single base substitution C T intron_variant MELA-AU 21 30908015 30908015 single base substitution C T intron_variant MELA-AU 21 30908232 30908233 multiple base substitution (>=2bp and <=200bp) AC CT intron_variant MELA-AU 21 30908664 30908664 single base substitution C T intron_variant MELA-AU 21 30908983 30908983 single base substitution C T intron_variant MELA-AU 21 30909463 30909463 single base substitution G A intron_variant MELA-AU 21 30909673 30909673 single base substitution C T intron_variant MELA-AU 21 30909750 30909750 single base substitution C T intron_variant MELA-AU 21 30909904 30909904 single base substitution T A intron_variant MELA-AU 21 30910068 30910068 single base substitution G A intron_variant MELA-AU 21 30910370 30910370 single base substitution G A intron_variant MELA-AU 21 30910378 30910378 single base substitution G T intron_variant MELA-AU 21 30910871 30910871 single base substitution C T intron_variant MELA-AU 21 30910925 30910925 single base substitution T C intron_variant MELA-AU 21 30911226 30911226 single base substitution C T intron_variant MELA-AU 21 30911370 30911370 single base substitution C T intron_variant MELA-AU 21 30912018 30912018 single base substitution C T intron_variant MELA-AU 21 30912049 30912049 single base substitution G A intron_variant MELA-AU 21 30912763 30912764 multiple base substitution (>=2bp and <=200bp) CC TT intron_variant MELA-AU 21 30913290 30913290 single base substitution G A intron_variant MELA-AU 21 30913498 30913498 single base substitution G T intron_variant MELA-AU 21 30913512 30913512 single base substitution C T intron_variant MELA-AU 21 30913515 30913515 single base substitution C T intron_variant MELA-AU 21 30915393 30915393 single base substitution G A intron_variant MELA-AU 21 30916039 30916040 multiple base substitution (>=2bp and <=200bp) CC TT intron_variant MELA-AU 21 30916185 30916185 single base substitution C T intron_variant MELA-AU 21 30916211 30916211 single base substitution C T intron_variant MELA-AU 21 30916265 30916266 multiple base substitution (>=2bp and <=200bp) CC TT intron_variant MELA-AU 21 30916430 30916430 single base substitution C T intron_variant MELA-AU 21 30916834 30916834 single base substitution C T intron_variant MELA-AU 21 30917156 30917156 single base substitution C T intron_variant MELA-AU 21 30917217 30917217 single base substitution C T intron_variant MELA-AU 21 30918161 30918161 single base substitution G A intron_variant MELA-AU 21 30918168 30918168 single base substitution C T intron_variant MELA-AU 21 30918390 30918390 single base substitution C T intron_variant MELA-AU 21 30918919 30918919 single base substitution C T intron_variant MELA-AU 21 30918969 30918969 single base substitution C T intron_variant MELA-AU 21 30919100 30919100 single base substitution C T intron_variant MELA-AU 21 30919265 30919265 single base substitution C T intron_variant MELA-AU 21 30919656 30919656 single base substitution C T intron_variant MELA-AU 21 30919718 30919718 single base substitution C T intron_variant MELA-AU 21 30919726 30919726 single base substitution C T intron_variant MELA-AU 21 30919822 30919822 single base substitution G A intron_variant MELA-AU 21 30919877 30919877 single base substitution C T intron_variant MELA-AU 21 30919962 30919962 single base substitution C T intron_variant MELA-AU 21 30921259 30921259 single base substitution C T intron_variant MELA-AU 21 30921296 30921296 single base substitution A G intron_variant MELA-AU 21 30921896 30921896 single base substitution G A intron_variant MELA-AU 21 30922214 30922214 single base substitution G A intron_variant MELA-AU 21 30922936 30922936 single base substitution C T intron_variant MELA-AU 21 30923458 30923458 single base substitution A C intron_variant MELA-AU 21 30924531 30924531 single base substitution G A intron_variant MELA-AU 21 30924613 30924613 single base substitution G A intron_variant MELA-AU 21 30924823 30924823 single base substitution C T intron_variant MELA-AU 21 30925282 30925282 single base substitution C T intron_variant MELA-AU 21 30925636 30925636 single base substitution G A intron_variant MELA-AU 21 30925644 30925644 single base substitution C T intron_variant MELA-AU 21 30925769 30925769 single base substitution G A intron_variant MELA-AU 21 30926202 30926202 single base substitution A G intron_variant MELA-AU 21 30926385 30926385 single base substitution G C intron_variant MELA-AU 21 30926514 30926514 single base substitution G A intron_variant MELA-AU 21 30926705 30926705 single base substitution C T intron_variant MELA-AU 21 30926784 30926784 single base substitution C A intron_variant MELA-AU 21 30926882 30926882 single base substitution C T intron_variant MELA-AU 21 30926993 30926993 single base substitution C T intron_variant MELA-AU 21 30927030 30927030 single base substitution T C intron_variant MELA-AU 21 30927059 30927059 single base substitution C T intron_variant MELA-AU 21 30927134 30927134 single base substitution C T intron_variant MELA-AU 21 30927384 30927384 single base substitution C T intron_variant MELA-AU 21 30927447 30927447 single base substitution C T intron_variant MELA-AU 21 30927483 30927483 single base substitution C T intron_variant MELA-AU 21 30927488 30927488 single base substitution C T intron_variant MELA-AU 21 30927521 30927521 single base substitution G A intron_variant MELA-AU 21 30927556 30927556 single base substitution C T intron_variant MELA-AU 21 30927897 30927897 single base substitution C T intron_variant MELA-AU 21 30927979 30927979 single base substitution C T intron_variant MELA-AU 21 30928115 30928115 single base substitution G C intron_variant MELA-AU 21 30928609 30928609 single base substitution C T intron_variant MELA-AU 21 30928696 30928696 single base substitution G A intron_variant MELA-AU 21 30928722 30928722 single base substitution C T intron_variant MELA-AU 21 30928877 30928877 single base substitution G A intron_variant MELA-AU 21 30928916 30928916 single base substitution C T intron_variant MELA-AU 21 30929210 30929210 single base substitution T C intron_variant MELA-AU 21 30929347 30929347 single base substitution C T intron_variant MELA-AU 21 30929901 30929901 single base substitution C T intron_variant MELA-AU 21 30930109 30930109 single base substitution C T intron_variant MELA-AU 21 30930792 30930792 single base substitution C T intron_variant MELA-AU 21 30931341 30931341 single base substitution G A intron_variant MELA-AU 21 30931712 30931712 single base substitution C T intron_variant MELA-AU 21 30931821 30931821 single base substitution G A intron_variant MELA-AU 21 30931926 30931926 single base substitution C T intron_variant MELA-AU 21 30932020 30932020 single base substitution G A intron_variant MELA-AU 21 30932281 30932282 multiple base substitution (>=2bp and <=200bp) CC TT intron_variant MELA-AU 21 30932353 30932353 single base substitution C T intron_variant MELA-AU 21 30932688 30932688 single base substitution T C intron_variant MELA-AU 21 30932780 30932780 single base substitution C T intron_variant MELA-AU 21 30933083 30933083 single base substitution C T intron_variant MELA-AU 21 30933156 30933156 single base substitution C T intron_variant MELA-AU 21 30933927 30933927 single base substitution C T intron_variant MELA-AU 21 30933935 30933935 single base substitution C T intron_variant MELA-AU 21 30934004 30934004 single base substitution T C intron_variant MELA-AU 21 30934279 30934279 single base substitution C T intron_variant MELA-AU 21 30934513 30934513 single base substitution T A intron_variant MELA-AU 21 30934735 30934735 single base substitution G A intron_variant MELA-AU 21 30934900 30934900 single base substitution C G intron_variant MELA-AU 21 30935001 30935001 single base substitution C T intron_variant MELA-AU 21 30935237 30935237 single base substitution C T intron_variant MELA-AU 21 30935383 30935383 single base substitution G A intron_variant MELA-AU 21 30935577 30935577 single base substitution G A intron_variant MELA-AU 21 30935597 30935597 single base substitution C T intron_variant MELA-AU 21 30935651 30935651 single base substitution G A intron_variant MELA-AU 21 30935696 30935696 single base substitution G A intron_variant MELA-AU 21 30935708 30935708 single base substitution C T intron_variant MELA-AU 21 30935850 30935850 single base substitution C T intron_variant MELA-AU 21 30936014 30936014 single base substitution G A intron_variant MELA-AU 21 30936243 30936243 single base substitution C T intron_variant MELA-AU 21 30936506 30936506 single base substitution C T intron_variant MELA-AU 21 30936981 30936981 single base substitution C T intron_variant MELA-AU 21 30937018 30937018 single base substitution T G intron_variant MELA-AU 21 30937092 30937092 single base substitution C T intron_variant MELA-AU 21 30937550 30937550 single base substitution C T intron_variant MELA-AU 21 30937811 30937811 single base substitution G A intron_variant MELA-AU 21 30938366 30938366 single base substitution C T intron_variant MELA-AU 21 30938444 30938444 deletion of <=200bp T - intron_variant MELA-AU 21 30938465 30938465 single base substitution C T intron_variant MELA-AU 21 30938542 30938542 single base substitution C T intron_variant MELA-AU 21 30938594 30938594 single base substitution C T intron_variant MELA-AU 21 30938781 30938781 single base substitution C T intron_variant MELA-AU 21 30939304 30939304 single base substitution G A intron_variant MELA-AU 21 30939578 30939578 single base substitution C T intron_variant MELA-AU 21 30939948 30939948 single base substitution A G intron_variant MELA-AU 21 30939996 30939996 single base substitution C T intron_variant MELA-AU 21 30940366 30940366 single base substitution G A intron_variant MELA-AU 21 30940397 30940397 single base substitution C T intron_variant MELA-AU 21 30940675 30940675 single base substitution C T intron_variant MELA-AU 21 30940989 30940989 single base substitution C T intron_variant MELA-AU 21 30941043 30941043 single base substitution C T intron_variant MELA-AU 21 30942155 30942155 single base substitution C T intron_variant MELA-AU 21 30942172 30942172 single base substitution C T intron_variant MELA-AU 21 30942227 30942227 single base substitution G A intron_variant MELA-AU 21 30942306 30942306 single base substitution C T intron_variant MELA-AU 21 30942572 30942572 single base substitution C T intron_variant MELA-AU 21 30942697 30942697 single base substitution C T intron_variant MELA-AU 21 30943101 30943101 single base substitution G A intron_variant MELA-AU 21 30943389 30943389 single base substitution C T intron_variant MELA-AU 21 30943698 30943698 single base substitution C T intron_variant MELA-AU 21 30943861 30943861 single base substitution G T intron_variant MELA-AU 21 30944143 30944143 single base substitution G A intron_variant MELA-AU 21 30944610 30944610 single base substitution C T intron_variant MELA-AU 21 30944790 30944790 single base substitution C T intron_variant MELA-AU 21 30944798 30944798 single base substitution G A intron_variant MELA-AU 21 30945179 30945179 single base substitution C T intron_variant MELA-AU 21 30945600 30945600 single base substitution C A intron_variant MELA-AU 21 30945713 30945713 single base substitution G A intron_variant MELA-AU 21 30945732 30945732 single base substitution A G intron_variant MELA-AU 21 30945880 30945880 single base substitution A G intron_variant MELA-AU 21 30946102 30946102 single base substitution G A intron_variant MELA-AU 21 30946116 30946116 single base substitution C T intron_variant MELA-AU 21 30946260 30946260 single base substitution A G intron_variant MELA-AU 21 30946421 30946421 single base substitution A T intron_variant MELA-AU 21 30946477 30946477 single base substitution T C intron_variant MELA-AU 21 30946628 30946628 single base substitution C T intron_variant MELA-AU 21 30946842 30946842 single base substitution A G intron_variant MELA-AU 21 30947303 30947303 single base substitution C T intron_variant MELA-AU 21 30947551 30947551 single base substitution C T intron_variant MELA-AU 21 30947920 30947920 single base substitution G A intron_variant MELA-AU 21 30948111 30948111 single base substitution C T intron_variant MELA-AU 21 30948139 30948139 single base substitution G A intron_variant MELA-AU 21 30948151 30948151 single base substitution C T intron_variant MELA-AU 21 30948860 30948860 single base substitution G A intron_variant MELA-AU 21 30949370 30949370 single base substitution G A intron_variant MELA-AU 21 30949449 30949449 single base substitution C T intron_variant MELA-AU 21 30949498 30949498 single base substitution G A intron_variant MELA-AU 21 30949510 30949510 single base substitution G A intron_variant MELA-AU 21 30949584 30949584 single base substitution G A intron_variant MELA-AU 21 30951205 30951205 single base substitution C T intron_variant MELA-AU 21 30951713 30951713 single base substitution G A intron_variant MELA-AU 21 30952041 30952041 single base substitution A G intron_variant MELA-AU 21 30953101 30953101 single base substitution G A intron_variant MELA-AU 21 30953157 30953157 single base substitution C T intron_variant MELA-AU 21 30953317 30953317 deletion of <=200bp A - intron_variant MELA-AU 21 30953451 30953451 single base substitution C T intron_variant MELA-AU 21 30953608 30953608 single base substitution G A intron_variant MELA-AU 21 30953614 30953614 single base substitution C T intron_variant MELA-AU 21 30953650 30953650 single base substitution C T intron_variant MELA-AU 21 30953769 30953769 single base substitution C T intron_variant MELA-AU 21 30953850 30953850 single base substitution C T intron_variant MELA-AU 21 30954029 30954029 single base substitution G A intron_variant MELA-AU 21 30954150 30954150 single base substitution C T intron_variant MELA-AU 21 30954276 30954276 single base substitution C T intron_variant MELA-AU 21 30954489 30954489 single base substitution C T intron_variant MELA-AU 21 30954661 30954661 single base substitution A G intron_variant MELA-AU 21 30954661 30954661 single base substitution A G synonymous_variant Q167Q 501A>G MELA-AU 21 30954819 30954819 single base substitution C T intron_variant MELA-AU 21 30954875 30954875 single base substitution A T intron_variant MELA-AU 21 30955274 30955274 single base substitution G A intron_variant MELA-AU 21 30955690 30955690 single base substitution C T intron_variant MELA-AU 21 30955779 30955779 single base substitution C T intron_variant MELA-AU 21 30955838 30955838 single base substitution C T intron_variant MELA-AU 21 30956532 30956532 single base substitution C T intron_variant MELA-AU 21 30956780 30956780 single base substitution A T intron_variant MELA-AU 21 30956935 30956935 single base substitution C T intron_variant MELA-AU 21 30956960 30956960 single base substitution A C intron_variant MELA-AU 21 30956981 30956981 single base substitution C T intron_variant MELA-AU 21 30956982 30956982 single base substitution C T intron_variant MELA-AU 21 30957175 30957175 single base substitution G A intron_variant MELA-AU 21 30957756 30957756 single base substitution G A intron_variant MELA-AU 21 30957892 30957892 single base substitution G A intron_variant MELA-AU 21 30958186 30958186 single base substitution C T intron_variant MELA-AU 21 30958307 30958307 single base substitution C T intron_variant MELA-AU 21 30958389 30958389 single base substitution C T intron_variant MELA-AU 21 30958882 30958882 single base substitution A T intron_variant MELA-AU 21 30960012 30960012 single base substitution C T intron_variant MELA-AU 21 30960341 30960341 single base substitution C T intron_variant MELA-AU 21 30960389 30960389 single base substitution G A intron_variant MELA-AU 21 30960764 30960764 single base substitution G A intron_variant MELA-AU 21 30960773 30960773 single base substitution A T intron_variant MELA-AU 21 30961256 30961256 single base substitution C T intron_variant MELA-AU 21 30961261 30961261 single base substitution G A intron_variant MELA-AU 21 30961275 30961275 single base substitution C T intron_variant MELA-AU 21 30961582 30961582 single base substitution C T intron_variant MELA-AU 21 30961680 30961680 single base substitution G A intron_variant MELA-AU 21 30961724 30961724 single base substitution T A intron_variant MELA-AU 21 30961751 30961751 single base substitution T A intron_variant MELA-AU 21 30961780 30961780 single base substitution C T intron_variant MELA-AU 21 30961805 30961805 single base substitution G C intron_variant MELA-AU 21 30961937 30961937 single base substitution G A intron_variant MELA-AU 21 30962199 30962199 single base substitution T C intron_variant MELA-AU 21 30962329 30962329 single base substitution C T intron_variant MELA-AU 21 30962525 30962525 single base substitution C T intron_variant MELA-AU 21 30962859 30962859 single base substitution G A intron_variant MELA-AU 21 30962945 30962945 single base substitution G A intron_variant MELA-AU 21 30963189 30963189 single base substitution G A intron_variant MELA-AU 21 30963797 30963797 single base substitution T A intron_variant MELA-AU 21 30963797 30963797 single base substitution T A upstream_gene_variant MELA-AU 21 30963829 30963829 single base substitution C A intron_variant MELA-AU 21 30963829 30963829 single base substitution C A upstream_gene_variant MELA-AU 21 30963836 30963836 single base substitution G A intron_variant MELA-AU 21 30963836 30963836 single base substitution G A upstream_gene_variant MELA-AU 21 30963854 30963854 single base substitution C T intron_variant MELA-AU 21 30963854 30963854 single base substitution C T upstream_gene_variant MELA-AU 21 30964186 30964186 single base substitution G A intron_variant MELA-AU 21 30964186 30964186 single base substitution G A upstream_gene_variant MELA-AU 21 30964295 30964295 single base substitution C T intron_variant MELA-AU 21 30964295 30964295 single base substitution C T upstream_gene_variant MELA-AU 21 30964965 30964965 single base substitution C T intron_variant MELA-AU 21 30964965 30964965 single base substitution C T upstream_gene_variant MELA-AU 21 30965194 30965194 single base substitution G A intron_variant MELA-AU 21 30965194 30965194 single base substitution G A upstream_gene_variant MELA-AU 21 30965380 30965380 single base substitution C T intron_variant MELA-AU 21 30965380 30965380 single base substitution C T upstream_gene_variant MELA-AU 21 30965722 30965722 single base substitution G A intron_variant MELA-AU 21 30965722 30965722 single base substitution G A upstream_gene_variant MELA-AU 21 30965771 30965771 single base substitution C T intron_variant MELA-AU 21 30965771 30965771 single base substitution C T upstream_gene_variant MELA-AU 21 30965773 30965773 single base substitution T A intron_variant MELA-AU 21 30965773 30965773 single base substitution T A upstream_gene_variant MELA-AU 21 30966194 30966194 single base substitution C A intron_variant MELA-AU 21 30966194 30966194 single base substitution C A upstream_gene_variant MELA-AU 21 30966562 30966562 single base substitution C T intron_variant MELA-AU 21 30966562 30966562 single base substitution C T upstream_gene_variant MELA-AU 21 30966616 30966616 single base substitution G A intron_variant MELA-AU 21 30966616 30966616 single base substitution G A upstream_gene_variant MELA-AU 21 30967824 30967824 single base substitution A T intron_variant MELA-AU 21 30967824 30967824 single base substitution A T upstream_gene_variant MELA-AU 21 30967884 30967884 single base substitution G A intron_variant MELA-AU 21 30967884 30967884 single base substitution G A upstream_gene_variant MELA-AU 21 30967961 30967961 single base substitution T C intron_variant MELA-AU 21 30967961 30967961 single base substitution T C upstream_gene_variant MELA-AU 21 30968491 30968491 single base substitution G A exon_variant MELA-AU 21 30968491 30968491 single base substitution G A intron_variant MELA-AU 21 30968812 30968812 single base substitution C T exon_variant MELA-AU 21 30968812 30968812 single base substitution C T intron_variant MELA-AU 21 30968881 30968881 single base substitution C T exon_variant MELA-AU 21 30968881 30968881 single base substitution C T intron_variant MELA-AU 21 30969010 30969010 single base substitution G A exon_variant MELA-AU 21 30969010 30969010 single base substitution G A intron_variant MELA-AU 21 30969898 30969898 single base substitution C T exon_variant MELA-AU 21 30969898 30969898 single base substitution C T missense_variant P174S 520C>T MELA-AU 21 30969898 30969898 single base substitution C T synonymous_variant S111S 333C>T MELA-AU 21 30970081 30970081 single base substitution C T intron_variant MELA-AU 21 30970151 30970151 single base substitution G A intron_variant MELA-AU 21 30970433 30970433 single base substitution T C intron_variant MELA-AU 21 30970542 30970542 single base substitution C T intron_variant MELA-AU 21 30970561 30970561 single base substitution G A intron_variant MELA-AU 21 30970733 30970734 multiple base substitution (>=2bp and <=200bp) GG AA intron_variant MELA-AU 21 30970762 30970762 single base substitution C T intron_variant MELA-AU 21 30970771 30970771 single base substitution C T intron_variant MELA-AU 21 30970856 30970856 single base substitution G A intron_variant MELA-AU 21 30971201 30971201 single base substitution C T intron_variant MELA-AU 21 30971263 30971263 single base substitution G A intron_variant MELA-AU 21 30971370 30971370 single base substitution C T intron_variant MELA-AU 21 30971464 30971464 single base substitution C T intron_variant MELA-AU 21 30971745 30971745 single base substitution C T intron_variant MELA-AU 21 30971831 30971831 single base substitution C T intron_variant MELA-AU 21 30972000 30972000 single base substitution C T intron_variant MELA-AU 21 30972007 30972007 single base substitution C T intron_variant MELA-AU 21 30972043 30972043 single base substitution G A intron_variant MELA-AU 21 30972064 30972064 single base substitution C T intron_variant MELA-AU 21 30972440 30972440 single base substitution C T intron_variant MELA-AU 21 30972518 30972518 single base substitution C T intron_variant MELA-AU 21 30972636 30972636 single base substitution C T intron_variant MELA-AU 21 30972657 30972657 single base substitution C T intron_variant MELA-AU 21 30973089 30973089 single base substitution C T intron_variant MELA-AU 21 30973175 30973175 single base substitution C T intron_variant MELA-AU 21 30973501 30973501 single base substitution G A intron_variant MELA-AU 21 30973568 30973568 single base substitution C T intron_variant MELA-AU 21 30973656 30973656 single base substitution C T intron_variant MELA-AU 21 30973792 30973792 single base substitution G A intron_variant MELA-AU 21 30974648 30974648 single base substitution G A intron_variant MELA-AU 21 30974700 30974700 single base substitution G A intron_variant MELA-AU 21 30974710 30974710 single base substitution C T intron_variant MELA-AU 21 30974799 30974799 single base substitution G A intron_variant MELA-AU 21 30974854 30974854 single base substitution G A intron_variant MELA-AU 21 30974933 30974933 single base substitution G T intron_variant MELA-AU 21 30975048 30975048 single base substitution G A intron_variant MELA-AU 21 30976521 30976521 single base substitution C T intron_variant MELA-AU 21 30976675 30976675 single base substitution C T intron_variant MELA-AU 21 30976832 30976832 single base substitution C T intron_variant MELA-AU 21 30977064 30977064 single base substitution C T intron_variant MELA-AU 21 30977147 30977147 single base substitution C T intron_variant MELA-AU 21 30977173 30977173 single base substitution G T intron_variant MELA-AU 21 30977368 30977368 single base substitution G A intron_variant MELA-AU 21 30977528 30977528 single base substitution C T intron_variant MELA-AU 21 30977646 30977646 single base substitution C T intron_variant MELA-AU 21 30977776 30977776 single base substitution C T intron_variant MELA-AU 21 30977886 30977886 single base substitution C T intron_variant MELA-AU 21 30977977 30977977 single base substitution G A intron_variant MELA-AU 21 30978200 30978200 single base substitution C T intron_variant MELA-AU 21 30978698 30978698 single base substitution C T intron_variant MELA-AU 21 30978810 30978810 single base substitution C T intron_variant MELA-AU 21 30979054 30979054 single base substitution C T intron_variant MELA-AU 21 30979097 30979097 single base substitution T C intron_variant MELA-AU 21 30979174 30979174 single base substitution C T intron_variant MELA-AU 21 30979207 30979207 single base substitution G A intron_variant MELA-AU 21 30979343 30979343 single base substitution G A intron_variant MELA-AU 21 30979385 30979385 single base substitution G A intron_variant MELA-AU 21 30979469 30979469 single base substitution C T intron_variant MELA-AU 21 30979617 30979617 single base substitution T A intron_variant MELA-AU 21 30980003 30980003 single base substitution C T intron_variant MELA-AU 21 30980736 30980736 single base substitution G A intron_variant MELA-AU 21 30980820 30980820 single base substitution T A intron_variant MELA-AU 21 30980964 30980964 single base substitution C T intron_variant MELA-AU 21 30980968 30980968 single base substitution C T intron_variant MELA-AU 21 30981039 30981039 single base substitution G A intron_variant MELA-AU 21 30981196 30981196 single base substitution G A intron_variant MELA-AU 21 30981272 30981272 single base substitution T C intron_variant MELA-AU 21 30981308 30981308 single base substitution G A intron_variant MELA-AU 21 30981604 30981604 single base substitution C T intron_variant MELA-AU 21 30981747 30981747 single base substitution G A intron_variant MELA-AU 21 30982282 30982282 single base substitution G A intron_variant MELA-AU 21 30982356 30982356 single base substitution C T intron_variant MELA-AU 21 30982406 30982406 single base substitution G A intron_variant MELA-AU 21 30982429 30982429 single base substitution G A intron_variant MELA-AU 21 30982541 30982541 single base substitution G A intron_variant MELA-AU 21 30982597 30982597 single base substitution C T intron_variant MELA-AU 21 30982733 30982733 single base substitution G A intron_variant MELA-AU 21 30982760 30982760 single base substitution G T intron_variant MELA-AU 21 30982792 30982792 single base substitution G A intron_variant MELA-AU 21 30982863 30982863 single base substitution G A intron_variant MELA-AU 21 30982923 30982923 single base substitution C T intron_variant MELA-AU 21 30983200 30983200 single base substitution C T intron_variant MELA-AU 21 30983548 30983548 single base substitution G A intron_variant MELA-AU 21 30983561 30983561 single base substitution G A intron_variant MELA-AU 21 30983567 30983567 single base substitution G A intron_variant MELA-AU 21 30983590 30983590 single base substitution C T intron_variant MELA-AU 21 30983683 30983683 single base substitution T C intron_variant MELA-AU 21 30983925 30983925 single base substitution G A intron_variant MELA-AU 21 30984035 30984035 single base substitution C T intron_variant MELA-AU 21 30984694 30984694 single base substitution T C intron_variant MELA-AU 21 30984784 30984784 single base substitution A T intron_variant MELA-AU 21 30984887 30984887 single base substitution C T intron_variant MELA-AU 21 30985003 30985003 single base substitution G A intron_variant MELA-AU 21 30985424 30985424 single base substitution G A intron_variant MELA-AU 21 30986180 30986180 single base substitution C T intron_variant MELA-AU 21 30986407 30986407 single base substitution C T intron_variant MELA-AU 21 30986419 30986419 single base substitution C T intron_variant MELA-AU 21 30986550 30986550 single base substitution G A intron_variant MELA-AU 21 30986614 30986614 single base substitution C T intron_variant MELA-AU 21 30986756 30986756 single base substitution G A intron_variant MELA-AU 21 30987162 30987162 single base substitution C T intron_variant MELA-AU 21 30987208 30987208 single base substitution C T intron_variant MELA-AU 21 30987262 30987262 single base substitution G A intron_variant MELA-AU 21 30987291 30987291 single base substitution C T intron_variant MELA-AU 21 30987346 30987346 single base substitution C T intron_variant MELA-AU 21 30987412 30987412 single base substitution C T intron_variant MELA-AU 21 30987638 30987638 single base substitution C T intron_variant MELA-AU 21 30987937 30987937 single base substitution C T intron_variant MELA-AU 21 30988188 30988188 single base substitution C T intron_variant MELA-AU 21 30988751 30988751 single base substitution C T intron_variant MELA-AU 21 30988997 30988997 single base substitution C T intron_variant MELA-AU 21 30989007 30989007 single base substitution C T intron_variant MELA-AU 21 30989890 30989890 single base substitution G A intron_variant MELA-AU 21 30990063 30990063 single base substitution G A intron_variant MELA-AU 21 30990427 30990427 single base substitution C T intron_variant MELA-AU 21 30990673 30990673 single base substitution A T intron_variant MELA-AU 21 30990820 30990820 single base substitution G A intron_variant MELA-AU 21 30990843 30990843 single base substitution G A intron_variant MELA-AU 21 30991195 30991195 single base substitution C T intron_variant MELA-AU 21 30991217 30991217 single base substitution G A intron_variant MELA-AU 21 30991541 30991541 single base substitution G A intron_variant MELA-AU 21 30992368 30992368 single base substitution C T intron_variant MELA-AU 21 30992756 30992756 single base substitution T C intron_variant MELA-AU 21 30992845 30992845 single base substitution C T intron_variant MELA-AU 21 30992977 30992977 single base substitution G A intron_variant MELA-AU 21 30993403 30993403 single base substitution C T intron_variant MELA-AU 21 30993665 30993665 single base substitution C T intron_variant MELA-AU 21 30993687 30993687 single base substitution G A intron_variant MELA-AU 21 30993884 30993884 single base substitution C T intron_variant MELA-AU 21 30993974 30993974 single base substitution C T intron_variant MELA-AU 21 30994012 30994013 multiple base substitution (>=2bp and <=200bp) GG AC intron_variant MELA-AU 21 30994149 30994149 single base substitution C T intron_variant MELA-AU 21 30994296 30994296 single base substitution C T intron_variant MELA-AU 21 30994459 30994459 single base substitution G A intron_variant MELA-AU 21 30994838 30994838 single base substitution C T intron_variant MELA-AU 21 30994937 30994937 single base substitution G A intron_variant MELA-AU 21 30995147 30995147 single base substitution G A intron_variant MELA-AU 21 30995545 30995545 single base substitution G A intron_variant MELA-AU 21 30995656 30995656 single base substitution G A intron_variant MELA-AU 21 30995665 30995665 single base substitution G A intron_variant MELA-AU 21 30995706 30995706 single base substitution G A intron_variant MELA-AU 21 30995779 30995779 single base substitution A T intron_variant MELA-AU 21 30995833 30995833 single base substitution C T intron_variant MELA-AU 21 30995894 30995894 single base substitution C T intron_variant MELA-AU 21 30995937 30995937 single base substitution C T intron_variant MELA-AU 21 30996452 30996452 single base substitution C T intron_variant MELA-AU 21 30996613 30996613 single base substitution C T intron_variant MELA-AU 21 30996721 30996721 single base substitution G A intron_variant MELA-AU 21 30998082 30998082 single base substitution C T intron_variant MELA-AU 21 30998306 30998306 single base substitution G A intron_variant MELA-AU 21 30998636 30998636 single base substitution C T intron_variant MELA-AU 21 30999258 30999258 single base substitution G A intron_variant MELA-AU 21 30999354 30999354 single base substitution G A intron_variant MELA-AU 21 30999574 30999574 single base substitution G A intron_variant MELA-AU 21 30999763 30999763 single base substitution C T intron_variant MELA-AU 21 31000311 31000311 single base substitution C T intron_variant MELA-AU 21 31000360 31000360 single base substitution T C intron_variant MELA-AU 21 31000625 31000625 single base substitution C T intron_variant MELA-AU 21 31000984 31000984 single base substitution A C intron_variant MELA-AU 21 31000989 31000989 single base substitution G A intron_variant MELA-AU 21 31001032 31001032 single base substitution G A intron_variant MELA-AU 21 31001142 31001142 single base substitution T A intron_variant MELA-AU 21 31001606 31001606 single base substitution T C intron_variant MELA-AU 21 31001716 31001716 single base substitution C T intron_variant MELA-AU 21 31001745 31001745 single base substitution G A intron_variant MELA-AU 21 31002010 31002010 single base substitution C T intron_variant MELA-AU 21 31002190 31002190 single base substitution C T intron_variant MELA-AU 21 31002228 31002228 single base substitution G A intron_variant MELA-AU 21 31002476 31002476 single base substitution C T intron_variant MELA-AU 21 31002483 31002483 single base substitution G A intron_variant MELA-AU 21 31002766 31002766 single base substitution G A intron_variant MELA-AU 21 31002779 31002779 single base substitution G A intron_variant MELA-AU 21 31002806 31002806 single base substitution C T intron_variant MELA-AU 21 31002972 31002972 single base substitution C T 3_prime_UTR_variant MELA-AU 21 31002972 31002972 single base substitution C T exon_variant MELA-AU 21 31003075 31003075 insertion of <=200bp - TG downstream_gene_variant MELA-AU 21 31003212 31003212 single base substitution C A downstream_gene_variant MELA-AU 21 31003432 31003432 single base substitution C T downstream_gene_variant MELA-AU 21 31003629 31003629 single base substitution G A downstream_gene_variant MELA-AU 21 31004341 31004341 single base substitution G A downstream_gene_variant MELA-AU 21 31004391 31004391 single base substitution T G downstream_gene_variant MELA-AU 21 31004518 31004518 single base substitution G A downstream_gene_variant MELA-AU 21 31004576 31004576 single base substitution G A downstream_gene_variant MELA-AU 21 31005603 31005603 single base substitution G A downstream_gene_variant MELA-AU 21 31005702 31005702 single base substitution C T downstream_gene_variant MELA-AU 21 31005857 31005857 single base substitution A G downstream_gene_variant MELA-AU 21 31005943 31005943 single base substitution C T downstream_gene_variant MELA-AU 21 31006250 31006250 single base substitution C T downstream_gene_variant MELA-AU 21 31006520 31006520 single base substitution G A downstream_gene_variant MELA-AU 21 31006599 31006599 single base substitution C T downstream_gene_variant MELA-AU 21 31006924 31006924 single base substitution C T downstream_gene_variant MELA-AU 21 31007084 31007084 single base substitution G A downstream_gene_variant MELA-AU 21 31007464 31007464 single base substitution A C downstream_gene_variant MELA-AU 21 31007539 31007539 single base substitution A G downstream_gene_variant MELA-AU 21 31007643 31007643 single base substitution G A downstream_gene_variant MELA-AU 21 31007709 31007710 multiple base substitution (>=2bp and <=200bp) GG AA downstream_gene_variant MELA-AU 21 31007757 31007757 single base substitution G A downstream_gene_variant MELA-AU 21 31007884 31007884 single base substitution G A downstream_gene_variant MELA-AU 21 31007975 31007975 single base substitution A C downstream_gene_variant MELA-AU 21 31008030 31008030 single base substitution G A downstream_gene_variant ORCA-IN 21 30658201 30658201 single base substitution C G intron_variant ORCA-IN 21 30676184 30676184 single base substitution C A intron_variant ORCA-IN 21 30676184 30676184 single base substitution C A upstream_gene_variant ORCA-IN 21 30678494 30678494 single base substitution T A intron_variant ORCA-IN 21 30681576 30681576 single base substitution C T intron_variant ORCA-IN 21 30692348 30692348 single base substitution C T intron_variant ORCA-IN 21 30693655 30693655 single base substitution C T synonymous_variant T18T 54C>T ORCA-IN 21 30696905 30696905 single base substitution G A downstream_gene_variant ORCA-IN 21 30696905 30696905 single base substitution G A intron_variant ORCA-IN 21 30696905 30696905 single base substitution G A upstream_gene_variant ORCA-IN 21 30704338 30704338 single base substitution C G intron_variant ORCA-IN 21 30709819 30709819 single base substitution C G intron_variant ORCA-IN 21 30715871 30715871 single base substitution T A 3_prime_UTR_variant ORCA-IN 21 30715871 30715871 single base substitution T A intron_variant ORCA-IN 21 30750064 30750064 deletion of <=200bp A - intron_variant ORCA-IN 21 30763132 30763132 single base substitution T A intron_variant ORCA-IN 21 30820153 30820153 single base substitution A T intron_variant ORCA-IN 21 30833535 30833535 single base substitution C T intron_variant ORCA-IN 21 30840339 30840339 single base substitution C T intron_variant ORCA-IN 21 30905034 30905034 single base substitution A G intron_variant ORCA-IN 21 30914373 30914373 single base substitution T A intron_variant ORCA-IN 21 30918169 30918173 deletion of <=200bp CTTAG - intron_variant ORCA-IN 21 30923396 30923396 single base substitution G T intron_variant ORCA-IN 21 30927403 30927403 deletion of <=200bp G - intron_variant ORCA-IN 21 30950192 30950192 single base substitution G A intron_variant ORCA-IN 21 30955677 30955677 single base substitution C T intron_variant ORCA-IN 21 30957033 30957033 single base substitution C T intron_variant ORCA-IN 21 30995161 30995161 single base substitution C A intron_variant ORCA-IN 21 31001733 31001733 single base substitution G A intron_variant OV-AU 21 30562243 30562243 single base substitution G T upstream_gene_variant OV-AU 21 30565921 30565921 single base substitution T A upstream_gene_variant OV-AU 21 30569415 30569415 single base substitution G A intron_variant OV-AU 21 30569788 30569788 single base substitution G A intron_variant OV-AU 21 30570163 30570163 single base substitution G C intron_variant OV-AU 21 30575216 30575216 single base substitution C G intron_variant OV-AU 21 30577224 30577224 single base substitution T C intron_variant OV-AU 21 30577228 30577228 single base substitution A G intron_variant OV-AU 21 30582088 30582088 single base substitution C T intron_variant OV-AU 21 30592010 30592010 single base substitution A G intron_variant OV-AU 21 30595754 30595754 single base substitution C A intron_variant OV-AU 21 30601709 30601709 single base substitution T G intron_variant OV-AU 21 30602548 30602548 single base substitution G A intron_variant OV-AU 21 30603388 30603388 single base substitution G A intron_variant OV-AU 21 30607200 30607200 single base substitution C A intron_variant OV-AU 21 30612027 30612027 single base substitution A T intron_variant OV-AU 21 30613383 30613383 single base substitution A T intron_variant OV-AU 21 30614298 30614298 single base substitution T A intron_variant OV-AU 21 30614299 30614299 single base substitution A T intron_variant OV-AU 21 30616405 30616405 single base substitution G A intron_variant OV-AU 21 30618753 30618753 single base substitution C A intron_variant OV-AU 21 30618754 30618754 single base substitution C G intron_variant OV-AU 21 30623812 30623812 single base substitution G A intron_variant OV-AU 21 30625645 30625645 single base substitution C A intron_variant OV-AU 21 30625680 30625680 single base substitution G A intron_variant OV-AU 21 30628217 30628217 single base substitution T C intron_variant OV-AU 21 30632019 30632019 single base substitution C T intron_variant OV-AU 21 30634738 30634738 single base substitution C G intron_variant OV-AU 21 30638089 30638089 single base substitution A G intron_variant OV-AU 21 30640928 30640928 single base substitution G A intron_variant OV-AU 21 30641189 30641189 single base substitution A T intron_variant OV-AU 21 30650294 30650294 single base substitution G C intron_variant OV-AU 21 30657817 30657817 single base substitution G C intron_variant OV-AU 21 30659753 30659753 single base substitution A T intron_variant OV-AU 21 30661957 30661957 single base substitution T A intron_variant OV-AU 21 30666557 30666557 single base substitution A G intron_variant OV-AU 21 30666557 30666557 single base substitution A G upstream_gene_variant OV-AU 21 30667845 30667845 single base substitution C T intron_variant OV-AU 21 30667845 30667845 single base substitution C T upstream_gene_variant OV-AU 21 30670338 30670338 single base substitution G A intron_variant OV-AU 21 30670338 30670338 single base substitution G A upstream_gene_variant OV-AU 21 30679829 30679829 single base substitution G T intron_variant OV-AU 21 30682374 30682374 single base substitution T G intron_variant OV-AU 21 30701738 30701738 single base substitution T C downstream_gene_variant OV-AU 21 30701738 30701738 single base substitution T C intron_variant OV-AU 21 30709699 30709699 single base substitution A G intron_variant OV-AU 21 30721274 30721274 single base substitution G A downstream_gene_variant OV-AU 21 30721274 30721274 single base substitution G A intron_variant OV-AU 21 30726050 30726050 single base substitution G A intron_variant OV-AU 21 30727867 30727867 single base substitution C A intron_variant OV-AU 21 30728275 30728275 single base substitution C T intron_variant OV-AU 21 30728306 30728306 single base substitution A G intron_variant OV-AU 21 30728316 30728316 single base substitution G A intron_variant OV-AU 21 30729013 30729013 single base substitution T G intron_variant OV-AU 21 30729032 30729032 single base substitution G A intron_variant OV-AU 21 30729993 30729993 single base substitution A G intron_variant OV-AU 21 30736076 30736076 single base substitution T A intron_variant OV-AU 21 30745827 30745827 single base substitution G T intron_variant OV-AU 21 30747974 30747974 single base substitution C A intron_variant OV-AU 21 30753455 30753455 single base substitution T A intron_variant OV-AU 21 30755423 30755423 single base substitution A G intron_variant OV-AU 21 30757101 30757101 single base substitution G T intron_variant OV-AU 21 30757798 30757798 single base substitution C T intron_variant OV-AU 21 30762806 30762806 single base substitution T C intron_variant OV-AU 21 30766612 30766612 single base substitution T G intron_variant OV-AU 21 30782268 30782268 single base substitution G A intron_variant OV-AU 21 30785069 30785069 single base substitution G A intron_variant OV-AU 21 30785404 30785404 single base substitution T A intron_variant OV-AU 21 30787406 30787406 single base substitution A T intron_variant OV-AU 21 30787483 30787483 single base substitution C T intron_variant OV-AU 21 30788581 30788581 single base substitution C A intron_variant OV-AU 21 30789111 30789111 single base substitution C A intron_variant OV-AU 21 30789338 30789338 single base substitution A T intron_variant OV-AU 21 30790739 30790739 single base substitution T G intron_variant OV-AU 21 30794921 30794921 single base substitution A C intron_variant OV-AU 21 30795451 30795451 single base substitution C T intron_variant OV-AU 21 30798021 30798021 single base substitution G T intron_variant OV-AU 21 30798410 30798410 single base substitution C G intron_variant OV-AU 21 30802073 30802073 single base substitution G T intron_variant OV-AU 21 30811374 30811374 single base substitution C T intron_variant OV-AU 21 30814595 30814595 single base substitution C T intron_variant OV-AU 21 30817671 30817671 single base substitution C G intron_variant OV-AU 21 30819521 30819521 single base substitution G T intron_variant OV-AU 21 30820953 30820953 single base substitution A C intron_variant OV-AU 21 30822948 30822948 single base substitution C T intron_variant OV-AU 21 30824207 30824207 single base substitution A G intron_variant OV-AU 21 30826634 30826634 single base substitution T C intron_variant OV-AU 21 30842697 30842697 single base substitution A G intron_variant OV-AU 21 30847113 30847113 single base substitution G T intron_variant OV-AU 21 30867516 30867516 single base substitution T C intron_variant OV-AU 21 30867614 30867614 single base substitution C G intron_variant OV-AU 21 30872573 30872573 single base substitution C A intron_variant OV-AU 21 30873184 30873184 single base substitution C A intron_variant OV-AU 21 30873689 30873689 single base substitution C T intron_variant OV-AU 21 30874583 30874583 single base substitution G C intron_variant OV-AU 21 30874865 30874865 single base substitution G A intron_variant OV-AU 21 30875281 30875281 single base substitution T A intron_variant OV-AU 21 30882588 30882588 single base substitution A T intron_variant OV-AU 21 30885337 30885337 single base substitution G A intron_variant OV-AU 21 30890482 30890482 single base substitution C T intron_variant OV-AU 21 30896063 30896063 single base substitution T A intron_variant OV-AU 21 30900361 30900361 single base substitution T C intron_variant OV-AU 21 30903572 30903572 single base substitution A T intron_variant OV-AU 21 30908353 30908353 single base substitution T G intron_variant OV-AU 21 30909950 30909950 single base substitution A G intron_variant OV-AU 21 30909970 30909970 single base substitution C T intron_variant OV-AU 21 30912539 30912539 single base substitution C A intron_variant OV-AU 21 30913436 30913436 single base substitution G A intron_variant OV-AU 21 30913854 30913854 single base substitution T G intron_variant OV-AU 21 30914901 30914901 single base substitution A T intron_variant OV-AU 21 30928078 30928078 single base substitution A T intron_variant OV-AU 21 30928109 30928109 single base substitution T A intron_variant OV-AU 21 30930298 30930298 single base substitution C G intron_variant OV-AU 21 30937572 30937572 single base substitution G A intron_variant OV-AU 21 30941804 30941804 single base substitution C T intron_variant OV-AU 21 30953405 30953405 single base substitution C A intron_variant OV-AU 21 30953406 30953406 single base substitution T G intron_variant OV-AU 21 30957073 30957073 single base substitution T C intron_variant OV-AU 21 30960373 30960373 single base substitution C A intron_variant OV-AU 21 30962962 30962962 single base substitution G C intron_variant OV-AU 21 30965194 30965194 single base substitution G A intron_variant OV-AU 21 30965194 30965194 single base substitution G A upstream_gene_variant OV-AU 21 30965202 30965202 single base substitution A T intron_variant OV-AU 21 30965202 30965202 single base substitution A T upstream_gene_variant OV-AU 21 30968565 30968565 single base substitution T A exon_variant OV-AU 21 30968565 30968565 single base substitution T A intron_variant OV-AU 21 30968865 30968865 insertion of <=200bp - A exon_variant OV-AU 21 30968865 30968865 insertion of <=200bp - A intron_variant OV-AU 21 30973503 30973503 single base substitution A G intron_variant OV-AU 21 30975648 30975648 single base substitution G A intron_variant OV-AU 21 30978019 30978019 single base substitution C T intron_variant OV-AU 21 30979004 30979004 single base substitution A G intron_variant OV-AU 21 30979949 30979949 single base substitution A G intron_variant OV-AU 21 30981698 30981698 single base substitution A G intron_variant OV-AU 21 30983071 30983071 single base substitution G T intron_variant OV-AU 21 30983072 30983072 single base substitution C T intron_variant OV-AU 21 30986604 30986604 single base substitution T A intron_variant OV-AU 21 30997178 30997178 single base substitution C G intron_variant OV-AU 21 30998675 30998675 single base substitution C T intron_variant OV-AU 21 31002105 31002105 single base substitution G A intron_variant PACA-AU 21 30562484 30562484 single base substitution T C upstream_gene_variant PACA-AU 21 30565640 30565640 single base substitution G T upstream_gene_variant PACA-AU 21 30568723 30568723 single base substitution T G intron_variant PACA-AU 21 30588985 30588985 single base substitution C A intron_variant PACA-AU 21 30609027 30609027 single base substitution C T intron_variant PACA-AU 21 30609227 30609227 single base substitution G A intron_variant PACA-AU 21 30610598 30610598 single base substitution T G intron_variant PACA-AU 21 30622649 30622649 single base substitution G A intron_variant PACA-AU 21 30623496 30623496 single base substitution A G intron_variant PACA-AU 21 30625891 30625891 deletion of <=200bp A - intron_variant PACA-AU 21 30626604 30626604 single base substitution T C intron_variant PACA-AU 21 30633854 30633854 single base substitution A G intron_variant PACA-AU 21 30637063 30637063 single base substitution A G intron_variant PACA-AU 21 30644154 30644154 deletion of <=200bp G - intron_variant PACA-AU 21 30644366 30644366 single base substitution A C intron_variant PACA-AU 21 30648287 30648287 single base substitution C A intron_variant PACA-AU 21 30649096 30649096 single base substitution G T intron_variant PACA-AU 21 30649324 30649324 single base substitution C A intron_variant PACA-AU 21 30651978 30651978 single base substitution G A intron_variant PACA-AU 21 30659165 30659165 single base substitution G A intron_variant PACA-AU 21 30659895 30659895 single base substitution C G intron_variant PACA-AU 21 30661806 30661806 single base substitution T C intron_variant PACA-AU 21 30667292 30667292 single base substitution T C intron_variant PACA-AU 21 30667292 30667292 single base substitution T C upstream_gene_variant PACA-AU 21 30671283 30671283 single base substitution C G intron_variant PACA-AU 21 30671283 30671283 single base substitution C G upstream_gene_variant PACA-AU 21 30676449 30676449 single base substitution T C intron_variant PACA-AU 21 30676449 30676449 single base substitution T C upstream_gene_variant PACA-AU 21 30681129 30681129 single base substitution A C intron_variant PACA-AU 21 30683261 30683261 single base substitution C T intron_variant PACA-AU 21 30683975 30683975 single base substitution G C intron_variant PACA-AU 21 30684326 30684326 single base substitution C T intron_variant PACA-AU 21 30685748 30685748 single base substitution C T intron_variant PACA-AU 21 30687341 30687341 single base substitution C T intron_variant PACA-AU 21 30695340 30695340 single base substitution A T downstream_gene_variant PACA-AU 21 30695340 30695340 single base substitution A T intron_variant PACA-AU 21 30695340 30695340 single base substitution A T upstream_gene_variant PACA-AU 21 30701938 30701938 single base substitution A G downstream_gene_variant PACA-AU 21 30701938 30701938 single base substitution A G missense_variant N132S 395A>G PACA-AU 21 30701938 30701938 single base substitution A G missense_variant N567S 1700A>G PACA-AU 21 30701938 30701938 single base substitution A G missense_variant N83S 248A>G PACA-AU 21 30712165 30712165 single base substitution T C intron_variant PACA-AU 21 30713983 30713983 single base substitution G A intron_variant PACA-AU 21 30716041 30716041 deletion of <=200bp T - 3_prime_UTR_variant PACA-AU 21 30716041 30716041 deletion of <=200bp T - intron_variant PACA-AU 21 30716981 30716981 single base substitution G A 3_prime_UTR_variant PACA-AU 21 30716981 30716981 single base substitution G A intron_variant PACA-AU 21 30716987 30716987 single base substitution G A 3_prime_UTR_variant PACA-AU 21 30716987 30716987 single base substitution G A intron_variant PACA-AU 21 30719750 30719750 single base substitution C A downstream_gene_variant PACA-AU 21 30719750 30719750 single base substitution C A intron_variant PACA-AU 21 30721463 30721463 single base substitution T C downstream_gene_variant PACA-AU 21 30721463 30721463 single base substitution T C intron_variant PACA-AU 21 30731054 30731054 single base substitution C T intron_variant PACA-AU 21 30731102 30731102 single base substitution A G intron_variant PACA-AU 21 30731110 30731110 single base substitution A G intron_variant PACA-AU 21 30732000 30732000 single base substitution A G intron_variant PACA-AU 21 30746185 30746185 single base substitution T C intron_variant PACA-AU 21 30753064 30753064 insertion of <=200bp - TTTATTTA intron_variant PACA-AU 21 30758959 30758959 single base substitution C T intron_variant PACA-AU 21 30768155 30768155 single base substitution C G intron_variant PACA-AU 21 30772031 30772031 single base substitution G A intron_variant PACA-AU 21 30773362 30773362 single base substitution G A intron_variant PACA-AU 21 30773989 30773989 single base substitution G A intron_variant PACA-AU 21 30792011 30792011 single base substitution T C intron_variant PACA-AU 21 30792062 30792062 single base substitution A G intron_variant PACA-AU 21 30799039 30799039 single base substitution C A intron_variant PACA-AU 21 30805497 30805497 single base substitution T C intron_variant PACA-AU 21 30814918 30814918 single base substitution A G intron_variant PACA-AU 21 30827868 30827868 single base substitution G C intron_variant PACA-AU 21 30828554 30828554 single base substitution C T intron_variant PACA-AU 21 30828693 30828693 single base substitution G A intron_variant PACA-AU 21 30828827 30828827 single base substitution G A intron_variant PACA-AU 21 30834056 30834056 single base substitution G A intron_variant PACA-AU 21 30837655 30837655 single base substitution A G intron_variant PACA-AU 21 30839331 30839331 single base substitution G C intron_variant PACA-AU 21 30845076 30845076 single base substitution G A intron_variant PACA-AU 21 30849464 30849464 single base substitution T G intron_variant PACA-AU 21 30854531 30854531 single base substitution C A intron_variant PACA-AU 21 30854532 30854532 single base substitution C A intron_variant PACA-AU 21 30860208 30860208 single base substitution G A intron_variant PACA-AU 21 30863354 30863354 deletion of <=200bp A - intron_variant PACA-AU 21 30866733 30866733 single base substitution T G intron_variant PACA-AU 21 30868546 30868546 single base substitution G A intron_variant PACA-AU 21 30882397 30882397 single base substitution T G intron_variant PACA-AU 21 30883005 30883005 single base substitution G A intron_variant PACA-AU 21 30885451 30885451 single base substitution A T intron_variant PACA-AU 21 30885722 30885722 single base substitution C A intron_variant PACA-AU 21 30886275 30886275 single base substitution G A intron_variant PACA-AU 21 30896733 30896733 single base substitution C T intron_variant PACA-AU 21 30903902 30903902 single base substitution G C intron_variant PACA-AU 21 30910826 30910826 single base substitution T C intron_variant PACA-AU 21 30921998 30921998 single base substitution T A intron_variant PACA-AU 21 30922936 30922936 single base substitution C G intron_variant PACA-AU 21 30923428 30923428 deletion of <=200bp A - intron_variant PACA-AU 21 30932837 30932837 single base substitution C T intron_variant PACA-AU 21 30935207 30935207 insertion of <=200bp - TAC intron_variant PACA-AU 21 30937857 30937857 single base substitution A T intron_variant PACA-AU 21 30938599 30938599 single base substitution G C intron_variant PACA-AU 21 30939131 30939131 single base substitution G T intron_variant PACA-AU 21 30939139 30939139 single base substitution G C intron_variant PACA-AU 21 30939275 30939275 single base substitution G T intron_variant PACA-AU 21 30939727 30939727 insertion of <=200bp - T intron_variant PACA-AU 21 30940153 30940153 single base substitution G A intron_variant PACA-AU 21 30940195 30940195 single base substitution G T intron_variant PACA-AU 21 30940203 30940203 single base substitution G A intron_variant PACA-AU 21 30940538 30940538 single base substitution G C intron_variant PACA-AU 21 30941641 30941641 single base substitution G C intron_variant PACA-AU 21 30941725 30941725 single base substitution G A intron_variant PACA-AU 21 30942409 30942409 single base substitution G C intron_variant PACA-AU 21 30942551 30942551 single base substitution G A intron_variant PACA-AU 21 30942912 30942912 single base substitution G C intron_variant PACA-AU 21 30943728 30943728 single base substitution C T intron_variant PACA-AU 21 30954052 30954052 single base substitution A T intron_variant PACA-AU 21 30956643 30956643 single base substitution A G intron_variant PACA-AU 21 30958244 30958244 single base substitution G A intron_variant PACA-AU 21 30960516 30960516 single base substitution G A intron_variant PACA-AU 21 30961665 30961665 single base substitution C T intron_variant PACA-AU 21 30964542 30964542 single base substitution G A intron_variant PACA-AU 21 30964542 30964542 single base substitution G A upstream_gene_variant PACA-AU 21 30970753 30970753 single base substitution A G intron_variant PACA-AU 21 30971524 30971524 single base substitution G A intron_variant PACA-AU 21 30972917 30972917 single base substitution T C intron_variant PACA-AU 21 30980973 30980973 single base substitution C T intron_variant PACA-AU 21 30985300 30985300 single base substitution C G intron_variant PACA-AU 21 30987626 30987626 single base substitution T C intron_variant PACA-AU 21 30988123 30988123 single base substitution G A intron_variant PACA-AU 21 30990301 30990301 single base substitution T C intron_variant PACA-AU 21 30992728 30992728 single base substitution C A intron_variant PACA-AU 21 30999503 30999503 deletion of <=200bp A - intron_variant PACA-AU 21 31002870 31002870 single base substitution C T 3_prime_UTR_variant PACA-AU 21 31002870 31002870 single base substitution C T exon_variant PACA-AU 21 31002870 31002870 single base substitution C T synonymous_variant C216C 648C>T PACA-CA 21 30562169 30562169 single base substitution G A upstream_gene_variant PACA-CA 21 30562201 30562201 single base substitution C T upstream_gene_variant PACA-CA 21 30563847 30563847 single base substitution C A upstream_gene_variant PACA-CA 21 30565891 30565891 deletion of <=200bp T - upstream_gene_variant PACA-CA 21 30572903 30572903 single base substitution T A intron_variant PACA-CA 21 30574780 30574780 single base substitution T A intron_variant PACA-CA 21 30575106 30575106 single base substitution A G intron_variant PACA-CA 21 30575377 30575377 deletion of <=200bp T - intron_variant PACA-CA 21 30576090 30576090 single base substitution T C intron_variant PACA-CA 21 30577950 30577950 single base substitution C A intron_variant PACA-CA 21 30580305 30580305 single base substitution C T intron_variant PACA-CA 21 30580900 30580900 single base substitution C T intron_variant PACA-CA 21 30583198 30583198 single base substitution T C intron_variant PACA-CA 21 30587978 30587978 single base substitution C T intron_variant PACA-CA 21 30588126 30588126 single base substitution C T intron_variant PACA-CA 21 30588462 30588462 single base substitution T C intron_variant PACA-CA 21 30591808 30591808 single base substitution C T intron_variant PACA-CA 21 30594341 30594341 single base substitution G A intron_variant PACA-CA 21 30599953 30599953 single base substitution A T intron_variant PACA-CA 21 30603262 30603262 single base substitution A G intron_variant PACA-CA 21 30603860 30603860 single base substitution G A intron_variant PACA-CA 21 30608421 30608421 deletion of <=200bp T - intron_variant PACA-CA 21 30608428 30608441 deletion of <=200bp GAATAGGTACTTAG - intron_variant PACA-CA 21 30611616 30611616 single base substitution C A intron_variant PACA-CA 21 30614524 30614524 single base substitution C T intron_variant PACA-CA 21 30615513 30615513 single base substitution G A intron_variant PACA-CA 21 30618917 30618917 single base substitution G A intron_variant PACA-CA 21 30618977 30618977 single base substitution A T intron_variant PACA-CA 21 30621014 30621014 deletion of <=200bp T - intron_variant PACA-CA 21 30624290 30624290 single base substitution T C intron_variant PACA-CA 21 30632183 30632183 single base substitution C G intron_variant PACA-CA 21 30633017 30633017 single base substitution G T intron_variant PACA-CA 21 30635205 30635205 single base substitution G A intron_variant PACA-CA 21 30640903 30640903 single base substitution G A intron_variant PACA-CA 21 30644380 30644380 single base substitution G A intron_variant PACA-CA 21 30644408 30644408 single base substitution G A intron_variant PACA-CA 21 30644828 30644828 single base substitution A G intron_variant PACA-CA 21 30647367 30647367 single base substitution C G intron_variant PACA-CA 21 30647941 30647941 single base substitution C A intron_variant PACA-CA 21 30648749 30648749 single base substitution G T intron_variant PACA-CA 21 30655275 30655275 single base substitution T C intron_variant PACA-CA 21 30658648 30658648 single base substitution A G intron_variant PACA-CA 21 30661809 30661809 insertion of <=200bp - A intron_variant PACA-CA 21 30664523 30664523 single base substitution G T intron_variant PACA-CA 21 30667773 30667773 insertion of <=200bp - T intron_variant PACA-CA 21 30667773 30667773 insertion of <=200bp - T upstream_gene_variant PACA-CA 21 30669688 30669688 single base substitution C G intron_variant PACA-CA 21 30669688 30669688 single base substitution C G upstream_gene_variant PACA-CA 21 30671651 30671651 single base substitution G T intron_variant PACA-CA 21 30671651 30671651 single base substitution G T upstream_gene_variant PACA-CA 21 30672385 30672385 single base substitution C T intron_variant PACA-CA 21 30672385 30672385 single base substitution C T upstream_gene_variant PACA-CA 21 30673685 30673685 deletion of <=200bp G - intron_variant PACA-CA 21 30673685 30673685 deletion of <=200bp G - upstream_gene_variant PACA-CA 21 30675526 30675526 single base substitution A G intron_variant PACA-CA 21 30675526 30675526 single base substitution A G upstream_gene_variant PACA-CA 21 30675956 30675956 single base substitution C T intron_variant PACA-CA 21 30675956 30675956 single base substitution C T upstream_gene_variant PACA-CA 21 30676445 30676445 single base substitution T C intron_variant PACA-CA 21 30676445 30676445 single base substitution T C upstream_gene_variant PACA-CA 21 30681809 30681809 single base substitution C T intron_variant PACA-CA 21 30681896 30681896 deletion of <=200bp G - intron_variant PACA-CA 21 30687285 30687285 single base substitution G A intron_variant PACA-CA 21 30700865 30700865 insertion of <=200bp - T downstream_gene_variant PACA-CA 21 30700865 30700865 insertion of <=200bp - T intron_variant PACA-CA 21 30707908 30707908 single base substitution A C intron_variant PACA-CA 21 30711205 30711205 single base substitution C T intron_variant PACA-CA 21 30713982 30713982 single base substitution C T intron_variant PACA-CA 21 30714305 30714305 deletion of <=200bp A - intron_variant PACA-CA 21 30715159 30715159 single base substitution G T 3_prime_UTR_variant PACA-CA 21 30715159 30715159 single base substitution G T intron_variant PACA-CA 21 30722532 30722532 single base substitution T A downstream_gene_variant PACA-CA 21 30722532 30722532 single base substitution T A intron_variant PACA-CA 21 30724442 30724442 single base substitution C G intron_variant PACA-CA 21 30726922 30726922 single base substitution G A intron_variant PACA-CA 21 30728897 30728914 deletion of <=200bp GTTCCTCCTAGATCTGGT - intron_variant PACA-CA 21 30728915 30728915 single base substitution C G intron_variant PACA-CA 21 30730376 30730376 single base substitution C G intron_variant PACA-CA 21 30731133 30731133 insertion of <=200bp - AG intron_variant PACA-CA 21 30731143 30731143 insertion of <=200bp - G intron_variant PACA-CA 21 30735943 30735943 single base substitution C T intron_variant PACA-CA 21 30736502 30736502 single base substitution C T intron_variant PACA-CA 21 30745754 30745754 single base substitution T G intron_variant PACA-CA 21 30746407 30746407 single base substitution G A intron_variant PACA-CA 21 30747525 30747525 single base substitution C T intron_variant PACA-CA 21 30750006 30750006 single base substitution T A intron_variant PACA-CA 21 30750368 30750368 single base substitution G A intron_variant PACA-CA 21 30752638 30752638 single base substitution A G intron_variant PACA-CA 21 30754586 30754586 single base substitution G A intron_variant PACA-CA 21 30759357 30759357 single base substitution A G intron_variant PACA-CA 21 30763853 30763853 single base substitution G A intron_variant PACA-CA 21 30765092 30765092 single base substitution G A intron_variant PACA-CA 21 30765231 30765231 single base substitution T C intron_variant PACA-CA 21 30767120 30767120 single base substitution A T intron_variant PACA-CA 21 30770187 30770187 single base substitution C A intron_variant PACA-CA 21 30770739 30770739 single base substitution G T intron_variant PACA-CA 21 30770975 30770975 insertion of <=200bp - T intron_variant PACA-CA 21 30771798 30771798 single base substitution C T intron_variant PACA-CA 21 30772025 30772025 single base substitution C T intron_variant PACA-CA 21 30773534 30773534 single base substitution C T intron_variant PACA-CA 21 30775496 30775496 single base substitution A C intron_variant PACA-CA 21 30776328 30776328 deletion of <=200bp T - intron_variant PACA-CA 21 30777548 30777548 single base substitution G A intron_variant PACA-CA 21 30788020 30788020 single base substitution C T intron_variant PACA-CA 21 30789824 30789824 single base substitution G T intron_variant PACA-CA 21 30790019 30790019 single base substitution T C intron_variant PACA-CA 21 30794820 30794820 single base substitution C A intron_variant PACA-CA 21 30795595 30795595 single base substitution C T intron_variant PACA-CA 21 30796442 30796443 deletion of <=200bp CT - intron_variant PACA-CA 21 30798001 30798001 single base substitution C G intron_variant PACA-CA 21 30812451 30812451 single base substitution C G intron_variant PACA-CA 21 30820900 30820900 insertion of <=200bp - T intron_variant PACA-CA 21 30824387 30824387 single base substitution G A intron_variant PACA-CA 21 30824722 30824722 single base substitution A G intron_variant PACA-CA 21 30829673 30829673 single base substitution G A intron_variant PACA-CA 21 30830903 30830903 single base substitution C G intron_variant PACA-CA 21 30831123 30831123 deletion of <=200bp A - intron_variant PACA-CA 21 30832069 30832069 single base substitution C T intron_variant PACA-CA 21 30832156 30832156 single base substitution A T intron_variant PACA-CA 21 30832270 30832270 insertion of <=200bp - G intron_variant PACA-CA 21 30832271 30832271 deletion of <=200bp G - intron_variant PACA-CA 21 30832373 30832373 insertion of <=200bp - A intron_variant PACA-CA 21 30833119 30833119 single base substitution G A intron_variant PACA-CA 21 30834654 30834654 single base substitution G A intron_variant PACA-CA 21 30841843 30841843 single base substitution T C intron_variant PACA-CA 21 30843077 30843077 single base substitution G A intron_variant PACA-CA 21 30847273 30847273 single base substitution C G intron_variant PACA-CA 21 30847372 30847372 single base substitution T C intron_variant PACA-CA 21 30852169 30852169 single base substitution T C intron_variant PACA-CA 21 30859052 30859052 single base substitution A G intron_variant PACA-CA 21 30870704 30870704 single base substitution C G intron_variant PACA-CA 21 30875425 30875425 single base substitution G A intron_variant PACA-CA 21 30878105 30878105 single base substitution T A intron_variant PACA-CA 21 30878115 30878115 single base substitution G A intron_variant PACA-CA 21 30884321 30884321 single base substitution A T intron_variant PACA-CA 21 30885623 30885623 single base substitution C G intron_variant PACA-CA 21 30887455 30887455 single base substitution C G intron_variant PACA-CA 21 30890650 30890650 single base substitution T G intron_variant PACA-CA 21 30893617 30893617 single base substitution G A intron_variant PACA-CA 21 30894617 30894617 single base substitution T A intron_variant PACA-CA 21 30898198 30898198 single base substitution G A intron_variant PACA-CA 21 30898386 30898386 single base substitution A G intron_variant PACA-CA 21 30900127 30900127 single base substitution G C intron_variant PACA-CA 21 30900343 30900343 single base substitution T G intron_variant PACA-CA 21 30901988 30901988 single base substitution C T intron_variant PACA-CA 21 30902451 30902451 single base substitution A C intron_variant PACA-CA 21 30909514 30909516 deletion of <=200bp AAT - intron_variant PACA-CA 21 30909645 30909645 insertion of <=200bp - T intron_variant PACA-CA 21 30910084 30910084 deletion of <=200bp G - intron_variant PACA-CA 21 30911106 30911106 single base substitution G T intron_variant PACA-CA 21 30914064 30914064 single base substitution A G intron_variant PACA-CA 21 30917281 30917281 single base substitution C A intron_variant PACA-CA 21 30917920 30917920 single base substitution G A intron_variant PACA-CA 21 30918151 30918151 insertion of <=200bp - A intron_variant PACA-CA 21 30919469 30919469 single base substitution C G intron_variant PACA-CA 21 30919952 30919952 single base substitution G A intron_variant PACA-CA 21 30921997 30921997 single base substitution A T intron_variant PACA-CA 21 30928248 30928248 single base substitution T G intron_variant PACA-CA 21 30931102 30931102 single base substitution G A intron_variant PACA-CA 21 30932463 30932463 single base substitution T A intron_variant PACA-CA 21 30932933 30932933 single base substitution C T intron_variant PACA-CA 21 30934049 30934049 single base substitution A T intron_variant PACA-CA 21 30935632 30935632 single base substitution C T intron_variant PACA-CA 21 30935850 30935850 single base substitution C G intron_variant PACA-CA 21 30936759 30936759 single base substitution G A intron_variant PACA-CA 21 30936940 30936940 single base substitution C T intron_variant PACA-CA 21 30940431 30940431 single base substitution C T intron_variant PACA-CA 21 30942034 30942034 deletion of <=200bp A - intron_variant PACA-CA 21 30943015 30943015 single base substitution T C intron_variant PACA-CA 21 30943685 30943685 single base substitution G A intron_variant PACA-CA 21 30945104 30945104 single base substitution T C intron_variant PACA-CA 21 30947453 30947453 single base substitution T G intron_variant PACA-CA 21 30952033 30952033 single base substitution G T intron_variant PACA-CA 21 30952373 30952373 insertion of <=200bp - TA intron_variant PACA-CA 21 30953616 30953616 single base substitution G A intron_variant PACA-CA 21 30954842 30954842 single base substitution T A intron_variant PACA-CA 21 30957697 30957697 single base substitution G A intron_variant PACA-CA 21 30958428 30958428 single base substitution C G intron_variant PACA-CA 21 30959360 30959360 single base substitution T C intron_variant PACA-CA 21 30961227 30961227 single base substitution C T intron_variant PACA-CA 21 30961551 30961551 single base substitution C A intron_variant PACA-CA 21 30961834 30961834 single base substitution C T intron_variant PACA-CA 21 30963116 30963116 single base substitution T A intron_variant PACA-CA 21 30966761 30966761 single base substitution A G intron_variant PACA-CA 21 30966761 30966761 single base substitution A G upstream_gene_variant PACA-CA 21 30967840 30967840 single base substitution A G intron_variant PACA-CA 21 30967840 30967840 single base substitution A G upstream_gene_variant PACA-CA 21 30968189 30968189 single base substitution G A intron_variant PACA-CA 21 30968189 30968189 single base substitution G A upstream_gene_variant PACA-CA 21 30972040 30972040 single base substitution G T intron_variant PACA-CA 21 30972937 30972937 single base substitution G A intron_variant PACA-CA 21 30973079 30973079 single base substitution G T intron_variant PACA-CA 21 30975134 30975134 deletion of <=200bp G - intron_variant PACA-CA 21 30975435 30975435 single base substitution G A intron_variant PACA-CA 21 30976250 30976250 insertion of <=200bp - T intron_variant PACA-CA 21 30976556 30976556 deletion of <=200bp A - intron_variant PACA-CA 21 30976665 30976665 single base substitution G T intron_variant PACA-CA 21 30978013 30978013 single base substitution A G intron_variant PACA-CA 21 30978453 30978453 single base substitution C T intron_variant PACA-CA 21 30978482 30978482 single base substitution T C intron_variant PACA-CA 21 30982945 30982945 single base substitution A T intron_variant PACA-CA 21 30983997 30983997 single base substitution G C intron_variant PACA-CA 21 30985425 30985425 single base substitution A G intron_variant PACA-CA 21 30987626 30987626 single base substitution T C intron_variant PACA-CA 21 30990349 30990349 single base substitution C T intron_variant PACA-CA 21 30992478 30992478 single base substitution T C intron_variant PACA-CA 21 30992597 30992597 single base substitution C T intron_variant PACA-CA 21 30992612 30992612 single base substitution T G intron_variant PACA-CA 21 30993299 30993299 deletion of <=200bp A - intron_variant PACA-CA 21 30994076 30994076 single base substitution T C intron_variant PACA-CA 21 30996163 30996163 single base substitution T C intron_variant PACA-CA 21 30996349 30996349 single base substitution A G intron_variant PACA-CA 21 30996539 30996539 deletion of <=200bp C - intron_variant PACA-CA 21 30998050 30998050 single base substitution A G intron_variant PACA-CA 21 30999808 30999808 single base substitution G A intron_variant PACA-CA 21 31002454 31002454 single base substitution C T intron_variant PACA-CA 21 31006196 31006196 single base substitution A T downstream_gene_variant PAEN-AU 21 30620437 30620437 single base substitution T G intron_variant PAEN-AU 21 30655460 30655460 single base substitution G T intron_variant PAEN-AU 21 30681651 30681651 single base substitution A G intron_variant PAEN-AU 21 30690733 30690733 single base substitution C A intron_variant PAEN-AU 21 30695340 30695340 single base substitution A T downstream_gene_variant PAEN-AU 21 30695340 30695340 single base substitution A T intron_variant PAEN-AU 21 30695340 30695340 single base substitution A T upstream_gene_variant PAEN-AU 21 30767718 30767718 single base substitution C T intron_variant PAEN-AU 21 30822933 30822933 single base substitution C T intron_variant PAEN-AU 21 30877202 30877202 single base substitution G C intron_variant PAEN-AU 21 30887413 30887413 single base substitution G A intron_variant PAEN-AU 21 30895822 30895822 single base substitution A G intron_variant PAEN-AU 21 30898309 30898309 single base substitution G T intron_variant PAEN-AU 21 30935890 30935890 single base substitution A G intron_variant PAEN-AU 21 30969457 30969457 single base substitution C A intron_variant PAEN-AU 21 30993340 30993340 single base substitution A G intron_variant PAEN-IT 21 30601394 30601394 single base substitution G T intron_variant PAEN-IT 21 30626000 30626000 single base substitution C A intron_variant PAEN-IT 21 30630974 30630974 single base substitution G T intron_variant PAEN-IT 21 30650870 30650870 single base substitution C A intron_variant PAEN-IT 21 30655750 30655750 single base substitution C A intron_variant PAEN-IT 21 30696917 30696917 single base substitution G A downstream_gene_variant PAEN-IT 21 30696917 30696917 single base substitution G A intron_variant PAEN-IT 21 30696917 30696917 single base substitution G A upstream_gene_variant PAEN-IT 21 30722942 30722942 single base substitution C A downstream_gene_variant PAEN-IT 21 30722942 30722942 single base substitution C A intron_variant PAEN-IT 21 30723392 30723392 single base substitution C G downstream_gene_variant PAEN-IT 21 30723392 30723392 single base substitution C G intron_variant PAEN-IT 21 30746026 30746026 single base substitution A G intron_variant PAEN-IT 21 30753064 30753064 single base substitution T C intron_variant PAEN-IT 21 30754015 30754015 single base substitution G C intron_variant PAEN-IT 21 30808013 30808013 single base substitution T C intron_variant PAEN-IT 21 30841899 30841899 single base substitution G A intron_variant PAEN-IT 21 30849464 30849464 single base substitution T G intron_variant PAEN-IT 21 30850782 30850782 single base substitution A G intron_variant PAEN-IT 21 30856126 30856126 single base substitution C G intron_variant PAEN-IT 21 30864090 30864090 single base substitution G T intron_variant PAEN-IT 21 30903072 30903072 single base substitution A G intron_variant PAEN-IT 21 30903637 30903637 single base substitution G T intron_variant PAEN-IT 21 30960113 30960113 single base substitution T G intron_variant PAEN-IT 21 30965066 30965066 single base substitution G T intron_variant PAEN-IT 21 30965066 30965066 single base substitution G T upstream_gene_variant PAEN-IT 21 30972769 30972769 single base substitution G T intron_variant PAEN-IT 21 30978642 30978642 single base substitution G A intron_variant PAEN-IT 21 31004605 31004605 single base substitution G A downstream_gene_variant PBCA-DE 21 30564519 30564519 single base substitution C T upstream_gene_variant PBCA-DE 21 30565636 30565637 deletion of <=200bp CG - upstream_gene_variant PBCA-DE 21 30576008 30576008 deletion of <=200bp T - intron_variant PBCA-DE 21 30576008 30576008 insertion of <=200bp - T intron_variant PBCA-DE 21 30580268 30580268 single base substitution A G intron_variant PBCA-DE 21 30581513 30581513 single base substitution G C intron_variant PBCA-DE 21 30587973 30587973 single base substitution G T intron_variant PBCA-DE 21 30593679 30593679 single base substitution T A intron_variant PBCA-DE 21 30600051 30600051 single base substitution C A intron_variant PBCA-DE 21 30606649 30606649 single base substitution C T intron_variant PBCA-DE 21 30610002 30610002 single base substitution A T intron_variant PBCA-DE 21 30610181 30610181 single base substitution T C intron_variant PBCA-DE 21 30613899 30613900 deletion of <=200bp CT - intron_variant PBCA-DE 21 30635112 30635112 single base substitution C T intron_variant PBCA-DE 21 30639034 30639034 insertion of <=200bp - A intron_variant PBCA-DE 21 30643132 30643132 single base substitution C A intron_variant PBCA-DE 21 30644379 30644379 single base substitution C T intron_variant PBCA-DE 21 30649638 30649638 single base substitution C T intron_variant PBCA-DE 21 30652633 30652633 single base substitution G C intron_variant PBCA-DE 21 30653163 30653163 single base substitution A G intron_variant PBCA-DE 21 30654920 30654920 deletion of <=200bp C - intron_variant PBCA-DE 21 30655556 30655556 single base substitution C A intron_variant PBCA-DE 21 30656747 30656747 single base substitution C T intron_variant PBCA-DE 21 30664241 30664241 single base substitution G A intron_variant PBCA-DE 21 30671748 30671748 single base substitution C A 5_prime_UTR_variant PBCA-DE 21 30671748 30671748 single base substitution C A intron_variant PBCA-DE 21 30671748 30671748 single base substitution C A upstream_gene_variant PBCA-DE 21 30676674 30676674 single base substitution G A intron_variant PBCA-DE 21 30676674 30676674 single base substitution G A upstream_gene_variant PBCA-DE 21 30677723 30677723 insertion of <=200bp - T intron_variant PBCA-DE 21 30679729 30679730 deletion of <=200bp TG - intron_variant PBCA-DE 21 30679988 30679989 deletion of <=200bp TA - intron_variant PBCA-DE 21 30701306 30701306 single base substitution C T downstream_gene_variant PBCA-DE 21 30701306 30701306 single base substitution C T intron_variant PBCA-DE 21 30706424 30706424 insertion of <=200bp - T intron_variant PBCA-DE 21 30716956 30716957 deletion of <=200bp TG - 3_prime_UTR_variant PBCA-DE 21 30716956 30716957 deletion of <=200bp TG - intron_variant PBCA-DE 21 30716985 30716985 single base substitution G A 3_prime_UTR_variant PBCA-DE 21 30716985 30716985 single base substitution G A intron_variant PBCA-DE 21 30718472 30718472 single base substitution G T downstream_gene_variant PBCA-DE 21 30718472 30718472 single base substitution G T intron_variant PBCA-DE 21 30746664 30746664 insertion of <=200bp - A intron_variant PBCA-DE 21 30761240 30761240 single base substitution T G intron_variant PBCA-DE 21 30769419 30769419 single base substitution C T intron_variant PBCA-DE 21 30778099 30778099 single base substitution C T intron_variant PBCA-DE 21 30785936 30785936 single base substitution C A intron_variant PBCA-DE 21 30786369 30786369 single base substitution A G intron_variant PBCA-DE 21 30788356 30788356 single base substitution T A intron_variant PBCA-DE 21 30789628 30789628 deletion of <=200bp A - intron_variant PBCA-DE 21 30789628 30789628 insertion of <=200bp - A intron_variant PBCA-DE 21 30790859 30790859 single base substitution G C intron_variant PBCA-DE 21 30795347 30795348 deletion of <=200bp AG - intron_variant PBCA-DE 21 30800594 30800594 single base substitution G A intron_variant PBCA-DE 21 30804390 30804390 single base substitution G A intron_variant PBCA-DE 21 30810249 30810249 insertion of <=200bp - T intron_variant PBCA-DE 21 30811032 30811032 single base substitution A G intron_variant PBCA-DE 21 30826133 30826133 deletion of <=200bp T - intron_variant PBCA-DE 21 30831638 30831638 single base substitution G A intron_variant PBCA-DE 21 30834329 30834329 single base substitution G C intron_variant PBCA-DE 21 30859395 30859395 single base substitution G T intron_variant PBCA-DE 21 30864932 30864932 single base substitution C G intron_variant PBCA-DE 21 30866248 30866248 single base substitution T A intron_variant PBCA-DE 21 30866549 30866549 single base substitution G C intron_variant PBCA-DE 21 30882430 30882430 single base substitution A G intron_variant PBCA-DE 21 30888628 30888628 single base substitution G A intron_variant PBCA-DE 21 30892665 30892665 single base substitution T C intron_variant PBCA-DE 21 30899458 30899458 single base substitution C A intron_variant PBCA-DE 21 30905206 30905206 single base substitution G A intron_variant PBCA-DE 21 30906475 30906475 single base substitution G C intron_variant PBCA-DE 21 30921997 30921997 single base substitution A T intron_variant PBCA-DE 21 30922134 30922134 single base substitution G A intron_variant PBCA-DE 21 30923766 30923766 single base substitution A C intron_variant PBCA-DE 21 30949460 30949460 single base substitution C T intron_variant PBCA-DE 21 30954640 30954640 single base substitution C T intron_variant PBCA-DE 21 30954640 30954640 single base substitution C T synonymous_variant G160G 480C>T PBCA-DE 21 30955215 30955215 single base substitution T G intron_variant PBCA-DE 21 30965136 30965136 insertion of <=200bp - T intron_variant PBCA-DE 21 30965136 30965136 insertion of <=200bp - T upstream_gene_variant PBCA-DE 21 30972384 30972384 single base substitution G A intron_variant PBCA-DE 21 30991760 30991760 insertion of <=200bp - A intron_variant PBCA-DE 21 30992640 30992640 single base substitution A T intron_variant PBCA-DE 21 30993714 30993715 deletion of <=200bp GT - intron_variant PBCA-DE 21 31004833 31004834 deletion of <=200bp AC - downstream_gene_variant PRAD-CA 21 30589176 30589176 single base substitution C G intron_variant PRAD-CA 21 30619591 30619591 single base substitution T A intron_variant PRAD-CA 21 30653357 30653357 single base substitution A G intron_variant PRAD-CA 21 30689317 30689317 single base substitution C G intron_variant PRAD-CA 21 30724229 30724229 single base substitution G T intron_variant PRAD-CA 21 30731117 30731117 single base substitution A C intron_variant PRAD-CA 21 30733183 30733183 single base substitution C A intron_variant PRAD-CA 21 30735269 30735269 single base substitution G T intron_variant PRAD-CA 21 30763780 30763780 single base substitution C G intron_variant PRAD-CA 21 30775496 30775496 single base substitution A C intron_variant PRAD-CA 21 30778095 30778095 single base substitution C T intron_variant PRAD-CA 21 30778099 30778099 single base substitution C T intron_variant PRAD-CA 21 30797113 30797113 single base substitution C T intron_variant PRAD-CA 21 30804668 30804668 single base substitution G T intron_variant PRAD-CA 21 30818855 30818855 single base substitution C A intron_variant PRAD-CA 21 30848768 30848768 single base substitution G A intron_variant PRAD-CA 21 30849464 30849464 single base substitution T G intron_variant PRAD-CA 21 30869543 30869543 single base substitution G A intron_variant PRAD-CA 21 30886805 30886805 single base substitution A G intron_variant PRAD-CA 21 30900074 30900074 single base substitution G A intron_variant PRAD-CA 21 30907235 30907235 single base substitution T G intron_variant PRAD-CA 21 30909442 30909442 single base substitution G T intron_variant PRAD-CA 21 30935589 30935589 single base substitution C T intron_variant PRAD-CA 21 31004001 31004001 single base substitution T G downstream_gene_variant PRAD-UK 21 30561885 30561885 single base substitution C T upstream_gene_variant PRAD-UK 21 30592095 30592095 single base substitution G A intron_variant PRAD-UK 21 30609839 30609839 single base substitution A C intron_variant PRAD-UK 21 30610488 30610488 single base substitution C G intron_variant PRAD-UK 21 30612488 30612488 single base substitution G A intron_variant PRAD-UK 21 30618785 30618785 single base substitution G A intron_variant PRAD-UK 21 30622009 30622009 single base substitution T C intron_variant PRAD-UK 21 30645178 30645178 insertion of <=200bp - T intron_variant PRAD-UK 21 30650556 30650556 single base substitution G A intron_variant PRAD-UK 21 30657672 30657672 single base substitution A G intron_variant PRAD-UK 21 30667802 30667802 single base substitution C T intron_variant PRAD-UK 21 30667802 30667802 single base substitution C T upstream_gene_variant PRAD-UK 21 30693966 30693966 single base substitution C T downstream_gene_variant PRAD-UK 21 30693966 30693966 single base substitution C T intron_variant PRAD-UK 21 30695729 30695729 single base substitution C T downstream_gene_variant PRAD-UK 21 30695729 30695729 single base substitution C T intron_variant PRAD-UK 21 30695729 30695729 single base substitution C T upstream_gene_variant PRAD-UK 21 30703691 30703691 deletion of <=200bp A - downstream_gene_variant PRAD-UK 21 30703691 30703691 deletion of <=200bp A - intron_variant PRAD-UK 21 30709967 30709967 single base substitution A C intron_variant PRAD-UK 21 30717328 30717328 single base substitution G T 3_prime_UTR_variant PRAD-UK 21 30717328 30717328 single base substitution G T intron_variant PRAD-UK 21 30732724 30732724 single base substitution C T intron_variant PRAD-UK 21 30741361 30741361 single base substitution T G intron_variant PRAD-UK 21 30747702 30747702 single base substitution A T intron_variant PRAD-UK 21 30751600 30751600 single base substitution A T intron_variant PRAD-UK 21 30752466 30752466 single base substitution T G intron_variant PRAD-UK 21 30760777 30760778 deletion of <=200bp TT - intron_variant PRAD-UK 21 30765275 30765275 single base substitution T C intron_variant PRAD-UK 21 30799162 30799162 single base substitution C T intron_variant PRAD-UK 21 30822839 30822839 single base substitution G A intron_variant PRAD-UK 21 30826951 30826951 single base substitution A C intron_variant PRAD-UK 21 30830074 30830074 single base substitution G A intron_variant PRAD-UK 21 30842625 30842625 single base substitution A G intron_variant PRAD-UK 21 30850002 30850002 single base substitution A C intron_variant PRAD-UK 21 30865184 30865184 single base substitution G A intron_variant PRAD-UK 21 30866524 30866524 single base substitution G A intron_variant PRAD-UK 21 30883405 30883405 single base substitution T C intron_variant PRAD-UK 21 30887485 30887485 single base substitution G C intron_variant PRAD-UK 21 30889936 30889936 single base substitution T C intron_variant PRAD-UK 21 30904699 30904699 single base substitution C A intron_variant PRAD-UK 21 30905185 30905185 single base substitution G C intron_variant PRAD-UK 21 30908100 30908100 single base substitution A G intron_variant PRAD-UK 21 30911328 30911328 single base substitution T C intron_variant PRAD-UK 21 30911890 30911890 single base substitution A G intron_variant PRAD-UK 21 30913085 30913085 single base substitution T C intron_variant PRAD-UK 21 30925180 30925180 single base substitution G A intron_variant PRAD-UK 21 30937275 30937275 single base substitution T G intron_variant PRAD-UK 21 30937537 30937537 single base substitution G C intron_variant PRAD-UK 21 30949329 30949329 single base substitution T A intron_variant PRAD-UK 21 30956480 30956480 single base substitution C A intron_variant PRAD-UK 21 30960775 30960775 single base substitution T A intron_variant PRAD-UK 21 30970711 30970711 single base substitution T G intron_variant PRAD-UK 21 30986199 30986199 single base substitution C A intron_variant PRAD-UK 21 31002195 31002195 single base substitution G A intron_variant PRAD-US 21 30963507 30963507 single base substitution C T intron_variant PRAD-US 21 30963507 30963507 single base substitution C T upstream_gene_variant READ-US 21 30693685 30693685 single base substitution G A downstream_gene_variant READ-US 21 30693685 30693685 single base substitution G A synonymous_variant R28R 84G>A READ-US 21 30698831 30698831 single base substitution A C downstream_gene_variant READ-US 21 30698831 30698831 single base substitution A C missense_variant K229T 686A>C READ-US 21 30698831 30698831 single base substitution A C upstream_gene_variant READ-US 21 30701851 30701851 single base substitution G A downstream_gene_variant READ-US 21 30701851 30701851 single base substitution G A missense_variant R103Q 308G>A READ-US 21 30701851 30701851 single base substitution G A missense_variant R538Q 1613G>A READ-US 21 30701851 30701851 single base substitution G A missense_variant R54Q 161G>A READ-US 21 30949318 30949318 single base substitution G A intron_variant RECA-EU 21 30564039 30564039 single base substitution A T upstream_gene_variant RECA-EU 21 30565700 30565700 single base substitution C T upstream_gene_variant RECA-EU 21 30570237 30570237 single base substitution G A intron_variant RECA-EU 21 30587145 30587145 single base substitution G C intron_variant RECA-EU 21 30592254 30592254 single base substitution G T intron_variant RECA-EU 21 30601341 30601341 single base substitution G A intron_variant RECA-EU 21 30603996 30603996 single base substitution G A intron_variant RECA-EU 21 30617930 30617930 single base substitution C T intron_variant RECA-EU 21 30618058 30618058 single base substitution G A intron_variant RECA-EU 21 30641200 30641200 single base substitution C T intron_variant RECA-EU 21 30642596 30642596 single base substitution G A intron_variant RECA-EU 21 30654508 30654508 single base substitution T C intron_variant RECA-EU 21 30661453 30661453 single base substitution A T intron_variant RECA-EU 21 30661463 30661463 single base substitution A G intron_variant RECA-EU 21 30664482 30664482 single base substitution C T intron_variant RECA-EU 21 30672750 30672750 single base substitution A G intron_variant RECA-EU 21 30672750 30672750 single base substitution A G upstream_gene_variant RECA-EU 21 30672769 30672769 single base substitution T C intron_variant RECA-EU 21 30672769 30672769 single base substitution T C upstream_gene_variant RECA-EU 21 30674667 30674667 single base substitution T C intron_variant RECA-EU 21 30674667 30674667 single base substitution T C upstream_gene_variant RECA-EU 21 30684277 30684277 single base substitution T G intron_variant RECA-EU 21 30685521 30685521 single base substitution A T intron_variant RECA-EU 21 30698228 30698228 single base substitution T A downstream_gene_variant RECA-EU 21 30698228 30698228 single base substitution T A intron_variant RECA-EU 21 30698228 30698228 single base substitution T A upstream_gene_variant RECA-EU 21 30706699 30706699 single base substitution G C intron_variant RECA-EU 21 30717326 30717326 single base substitution C A 3_prime_UTR_variant RECA-EU 21 30717326 30717326 single base substitution C A intron_variant RECA-EU 21 30718853 30718853 single base substitution G T downstream_gene_variant RECA-EU 21 30718853 30718853 single base substitution G T intron_variant RECA-EU 21 30723713 30723713 single base substitution A T intron_variant RECA-EU 21 30735204 30735204 single base substitution G T intron_variant RECA-EU 21 30735498 30735498 single base substitution C T intron_variant RECA-EU 21 30742166 30742166 single base substitution A T intron_variant RECA-EU 21 30779334 30779334 single base substitution G A intron_variant RECA-EU 21 30781150 30781150 single base substitution T C intron_variant RECA-EU 21 30782288 30782288 single base substitution T G intron_variant RECA-EU 21 30800495 30800495 single base substitution A T intron_variant RECA-EU 21 30817905 30817905 single base substitution A T intron_variant RECA-EU 21 30820592 30820592 single base substitution G T intron_variant RECA-EU 21 30830532 30830532 single base substitution T C intron_variant RECA-EU 21 30832316 30832316 single base substitution A G intron_variant RECA-EU 21 30834511 30834511 single base substitution A T intron_variant RECA-EU 21 30834722 30834722 single base substitution A T intron_variant RECA-EU 21 30836845 30836845 single base substitution G A intron_variant RECA-EU 21 30847703 30847703 single base substitution A G intron_variant RECA-EU 21 30848634 30848634 single base substitution C T intron_variant RECA-EU 21 30856132 30856132 single base substitution G A intron_variant RECA-EU 21 30871309 30871309 single base substitution T A intron_variant RECA-EU 21 30874728 30874728 single base substitution A T intron_variant RECA-EU 21 30888036 30888036 single base substitution G T intron_variant RECA-EU 21 30888123 30888123 single base substitution A G intron_variant RECA-EU 21 30888302 30888302 single base substitution G T intron_variant RECA-EU 21 30890962 30890962 single base substitution G T intron_variant RECA-EU 21 30902891 30902891 single base substitution C G intron_variant RECA-EU 21 30905210 30905210 single base substitution C T intron_variant RECA-EU 21 30946811 30946811 single base substitution C T intron_variant RECA-EU 21 30977800 30977800 single base substitution G C intron_variant RECA-EU 21 30980706 30980706 single base substitution C T intron_variant RECA-EU 21 30984664 30984664 single base substitution C A intron_variant RECA-EU 21 30992320 30992320 single base substitution C G intron_variant RECA-EU 21 30999735 30999735 single base substitution C A intron_variant RECA-EU 21 31002391 31002391 single base substitution G A intron_variant RECA-EU 21 31005382 31005382 single base substitution G C downstream_gene_variant SKCA-BR 21 30562399 30562399 single base substitution G A upstream_gene_variant SKCA-BR 21 30563133 30563133 single base substitution T G upstream_gene_variant SKCA-BR 21 30565231 30565231 single base substitution C T upstream_gene_variant SKCA-BR 21 30569525 30569525 single base substitution A G intron_variant SKCA-BR 21 30569641 30569641 single base substitution G A intron_variant SKCA-BR 21 30570004 30570004 single base substitution G A intron_variant SKCA-BR 21 30579222 30579222 single base substitution C T intron_variant SKCA-BR 21 30586432 30586442 deletion of <=200bp GCACACACAGA - intron_variant SKCA-BR 21 30589276 30589276 single base substitution G A intron_variant SKCA-BR 21 30590070 30590071 deletion of <=200bp CA - intron_variant SKCA-BR 21 30590883 30590883 single base substitution T A intron_variant SKCA-BR 21 30591015 30591015 single base substitution A G intron_variant SKCA-BR 21 30591392 30591392 single base substitution C T intron_variant SKCA-BR 21 30593097 30593097 single base substitution A G intron_variant SKCA-BR 21 30593459 30593459 single base substitution C G intron_variant SKCA-BR 21 30593460 30593460 single base substitution C G intron_variant SKCA-BR 21 30597041 30597041 single base substitution C T intron_variant SKCA-BR 21 30597042 30597042 single base substitution C T intron_variant SKCA-BR 21 30598246 30598246 single base substitution C T intron_variant SKCA-BR 21 30601439 30601439 single base substitution G A intron_variant SKCA-BR 21 30603872 30603873 deletion of <=200bp CT - intron_variant SKCA-BR 21 30605813 30605813 single base substitution C T intron_variant SKCA-BR 21 30608651 30608651 single base substitution C T intron_variant SKCA-BR 21 30612446 30612446 single base substitution G A intron_variant SKCA-BR 21 30613170 30613170 single base substitution C T intron_variant SKCA-BR 21 30614659 30614659 single base substitution C T intron_variant SKCA-BR 21 30615024 30615024 single base substitution G A intron_variant SKCA-BR 21 30622642 30622642 single base substitution T A intron_variant SKCA-BR 21 30624114 30624114 single base substitution G T intron_variant SKCA-BR 21 30627567 30627567 single base substitution A T intron_variant SKCA-BR 21 30630936 30630936 single base substitution T C intron_variant SKCA-BR 21 30632306 30632306 single base substitution G A intron_variant SKCA-BR 21 30633722 30633722 single base substitution C T intron_variant SKCA-BR 21 30637785 30637785 single base substitution G A intron_variant SKCA-BR 21 30644026 30644026 single base substitution C T intron_variant SKCA-BR 21 30648011 30648011 single base substitution G A intron_variant SKCA-BR 21 30648197 30648197 single base substitution C T intron_variant SKCA-BR 21 30650452 30650452 single base substitution A G intron_variant SKCA-BR 21 30652824 30652824 single base substitution C T intron_variant SKCA-BR 21 30656701 30656701 single base substitution G A intron_variant SKCA-BR 21 30657147 30657147 single base substitution T C intron_variant SKCA-BR 21 30660773 30660773 single base substitution C T intron_variant SKCA-BR 21 30661229 30661229 single base substitution A G intron_variant SKCA-BR 21 30667244 30667244 single base substitution T C intron_variant SKCA-BR 21 30667244 30667244 single base substitution T C upstream_gene_variant SKCA-BR 21 30671125 30671125 single base substitution T G intron_variant SKCA-BR 21 30671125 30671125 single base substitution T G upstream_gene_variant SKCA-BR 21 30671592 30671592 single base substitution T G intron_variant SKCA-BR 21 30671592 30671592 single base substitution T G upstream_gene_variant SKCA-BR 21 30671802 30671802 single base substitution A G 5_prime_UTR_variant SKCA-BR 21 30671802 30671802 single base substitution A G intron_variant SKCA-BR 21 30671802 30671802 single base substitution A G upstream_gene_variant SKCA-BR 21 30671870 30671870 single base substitution C T 5_prime_UTR_variant SKCA-BR 21 30671870 30671870 single base substitution C T intron_variant SKCA-BR 21 30671870 30671870 single base substitution C T upstream_gene_variant SKCA-BR 21 30672848 30672848 single base substitution T G intron_variant SKCA-BR 21 30672848 30672848 single base substitution T G upstream_gene_variant SKCA-BR 21 30674335 30674335 single base substitution C T intron_variant SKCA-BR 21 30674335 30674335 single base substitution C T upstream_gene_variant SKCA-BR 21 30676399 30676399 single base substitution C T intron_variant SKCA-BR 21 30676399 30676399 single base substitution C T upstream_gene_variant SKCA-BR 21 30685611 30685611 single base substitution G A intron_variant SKCA-BR 21 30693583 30693583 single base substitution A T 5_prime_UTR_variant SKCA-BR 21 30694002 30694002 single base substitution C T downstream_gene_variant SKCA-BR 21 30694002 30694002 single base substitution C T intron_variant SKCA-BR 21 30694930 30694930 single base substitution G A downstream_gene_variant SKCA-BR 21 30694930 30694930 single base substitution G A intron_variant SKCA-BR 21 30694930 30694930 single base substitution G A upstream_gene_variant SKCA-BR 21 30700608 30700608 single base substitution T A downstream_gene_variant SKCA-BR 21 30700608 30700608 single base substitution T A intron_variant SKCA-BR 21 30703193 30703193 single base substitution C T downstream_gene_variant SKCA-BR 21 30703193 30703193 single base substitution C T intron_variant SKCA-BR 21 30704080 30704080 single base substitution T G intron_variant SKCA-BR 21 30704815 30704815 insertion of <=200bp - AGAAT intron_variant SKCA-BR 21 30710145 30710145 single base substitution G A intron_variant SKCA-BR 21 30711725 30711725 single base substitution G C intron_variant SKCA-BR 21 30711950 30711951 deletion of <=200bp GT - intron_variant SKCA-BR 21 30712052 30712052 single base substitution C A intron_variant SKCA-BR 21 30712528 30712528 single base substitution A C intron_variant SKCA-BR 21 30713911 30713911 single base substitution C T intron_variant SKCA-BR 21 30715366 30715366 single base substitution C T 3_prime_UTR_variant SKCA-BR 21 30715366 30715366 single base substitution C T intron_variant SKCA-BR 21 30717737 30717737 single base substitution T C 3_prime_UTR_variant SKCA-BR 21 30717737 30717737 single base substitution T C intron_variant SKCA-BR 21 30719671 30719671 single base substitution C T downstream_gene_variant SKCA-BR 21 30719671 30719671 single base substitution C T intron_variant SKCA-BR 21 30721009 30721009 single base substitution C T downstream_gene_variant SKCA-BR 21 30721009 30721009 single base substitution C T intron_variant SKCA-BR 21 30721414 30721414 insertion of <=200bp - CA downstream_gene_variant SKCA-BR 21 30721414 30721414 insertion of <=200bp - CA intron_variant SKCA-BR 21 30722302 30722302 single base substitution T C downstream_gene_variant SKCA-BR 21 30722302 30722302 single base substitution T C intron_variant SKCA-BR 21 30722368 30722368 single base substitution G A downstream_gene_variant SKCA-BR 21 30722368 30722368 single base substitution G A intron_variant SKCA-BR 21 30722375 30722375 single base substitution A C downstream_gene_variant SKCA-BR 21 30722375 30722375 single base substitution A C intron_variant SKCA-BR 21 30728370 30728370 single base substitution C T intron_variant SKCA-BR 21 30730169 30730169 single base substitution C T intron_variant SKCA-BR 21 30731079 30731079 single base substitution A G intron_variant SKCA-BR 21 30731091 30731091 insertion of <=200bp - AAAAGAAAAG intron_variant SKCA-BR 21 30731091 30731091 insertion of <=200bp - AAAAGAAAGAAAGAAAGAAAG intron_variant SKCA-BR 21 30731131 30731133 deletion of <=200bp GAA - intron_variant SKCA-BR 21 30731133 30731133 insertion of <=200bp - AAGAAAGAAAGAAAG intron_variant SKCA-BR 21 30734842 30734842 single base substitution G C intron_variant SKCA-BR 21 30741744 30741744 single base substitution C T intron_variant SKCA-BR 21 30743919 30743919 single base substitution C G intron_variant SKCA-BR 21 30748037 30748038 deletion of <=200bp AT - intron_variant SKCA-BR 21 30754242 30754242 insertion of <=200bp - TC intron_variant SKCA-BR 21 30754245 30754245 single base substitution T G intron_variant SKCA-BR 21 30759832 30759832 single base substitution C T intron_variant SKCA-BR 21 30761063 30761063 single base substitution C T intron_variant SKCA-BR 21 30767569 30767569 insertion of <=200bp - CT intron_variant SKCA-BR 21 30769837 30769837 single base substitution C T intron_variant SKCA-BR 21 30771020 30771020 single base substitution A C intron_variant SKCA-BR 21 30771507 30771507 single base substitution C T intron_variant SKCA-BR 21 30773122 30773122 single base substitution C T intron_variant SKCA-BR 21 30773123 30773123 single base substitution C T intron_variant SKCA-BR 21 30775496 30775496 single base substitution A C intron_variant SKCA-BR 21 30776202 30776202 single base substitution C T intron_variant SKCA-BR 21 30777212 30777212 single base substitution G A intron_variant SKCA-BR 21 30778190 30778190 single base substitution T A intron_variant SKCA-BR 21 30783256 30783256 single base substitution G A intron_variant SKCA-BR 21 30783258 30783258 single base substitution G A intron_variant SKCA-BR 21 30783260 30783260 insertion of <=200bp - GTA intron_variant SKCA-BR 21 30783261 30783261 single base substitution T C intron_variant SKCA-BR 21 30783262 30783262 single base substitution A G intron_variant SKCA-BR 21 30784889 30784889 single base substitution C T intron_variant SKCA-BR 21 30786164 30786164 single base substitution G A intron_variant SKCA-BR 21 30789225 30789226 deletion of <=200bp TA - intron_variant SKCA-BR 21 30789972 30789972 single base substitution C T intron_variant SKCA-BR 21 30793268 30793268 single base substitution A G intron_variant SKCA-BR 21 30799195 30799195 single base substitution G A intron_variant SKCA-BR 21 30800681 30800681 single base substitution C A intron_variant SKCA-BR 21 30802896 30802896 single base substitution G A intron_variant SKCA-BR 21 30803232 30803232 single base substitution C T intron_variant SKCA-BR 21 30803449 30803449 single base substitution C A intron_variant SKCA-BR 21 30809782 30809782 single base substitution C T intron_variant SKCA-BR 21 30812118 30812118 single base substitution C T intron_variant SKCA-BR 21 30815340 30815340 single base substitution G T intron_variant SKCA-BR 21 30815626 30815626 single base substitution C T intron_variant SKCA-BR 21 30816140 30816140 single base substitution C T intron_variant SKCA-BR 21 30818121 30818121 single base substitution G A intron_variant SKCA-BR 21 30820670 30820670 insertion of <=200bp - AT intron_variant SKCA-BR 21 30822257 30822257 single base substitution C T intron_variant SKCA-BR 21 30822369 30822369 single base substitution C T intron_variant SKCA-BR 21 30822414 30822414 single base substitution C T intron_variant SKCA-BR 21 30822712 30822712 single base substitution C T intron_variant SKCA-BR 21 30822933 30822933 single base substitution C T intron_variant SKCA-BR 21 30825306 30825306 single base substitution T A intron_variant SKCA-BR 21 30827523 30827523 single base substitution C T intron_variant SKCA-BR 21 30829762 30829762 single base substitution C G intron_variant SKCA-BR 21 30834161 30834161 insertion of <=200bp - AT intron_variant SKCA-BR 21 30835893 30835893 single base substitution A G intron_variant SKCA-BR 21 30838034 30838034 single base substitution T C intron_variant SKCA-BR 21 30838512 30838512 single base substitution C T intron_variant SKCA-BR 21 30838724 30838724 single base substitution C T intron_variant SKCA-BR 21 30839537 30839537 single base substitution C T intron_variant SKCA-BR 21 30840691 30840691 single base substitution T G intron_variant SKCA-BR 21 30842488 30842488 single base substitution T C intron_variant SKCA-BR 21 30844937 30844937 single base substitution G A intron_variant SKCA-BR 21 30844999 30844999 single base substitution G A intron_variant SKCA-BR 21 30846185 30846185 single base substitution G A intron_variant SKCA-BR 21 30846772 30846772 insertion of <=200bp - CACACACACACAA intron_variant SKCA-BR 21 30848176 30848176 single base substitution C T intron_variant SKCA-BR 21 30849020 30849020 insertion of <=200bp - AT intron_variant SKCA-BR 21 30853803 30853805 deletion of <=200bp CCT - intron_variant SKCA-BR 21 30853804 30853805 deletion of <=200bp CT - intron_variant SKCA-BR 21 30855510 30855510 single base substitution C T intron_variant SKCA-BR 21 30857388 30857388 single base substitution C T intron_variant SKCA-BR 21 30857655 30857655 insertion of <=200bp - CTT intron_variant SKCA-BR 21 30862520 30862520 single base substitution C T intron_variant SKCA-BR 21 30863298 30863298 insertion of <=200bp - TA intron_variant SKCA-BR 21 30863736 30863736 single base substitution G A intron_variant SKCA-BR 21 30863993 30863993 single base substitution C T intron_variant SKCA-BR 21 30864205 30864205 single base substitution C T intron_variant SKCA-BR 21 30864676 30864676 single base substitution C T intron_variant SKCA-BR 21 30865779 30865779 single base substitution C T intron_variant SKCA-BR 21 30866448 30866448 single base substitution G A intron_variant SKCA-BR 21 30867349 30867349 single base substitution C T intron_variant SKCA-BR 21 30867415 30867415 single base substitution C T intron_variant SKCA-BR 21 30867543 30867543 single base substitution C T intron_variant SKCA-BR 21 30868253 30868253 single base substitution T G intron_variant SKCA-BR 21 30869635 30869635 single base substitution C T intron_variant SKCA-BR 21 30873299 30873299 single base substitution C T intron_variant SKCA-BR 21 30873771 30873771 single base substitution C T intron_variant SKCA-BR 21 30873827 30873827 single base substitution C T intron_variant SKCA-BR 21 30878540 30878540 single base substitution T A intron_variant SKCA-BR 21 30883189 30883189 single base substitution C T intron_variant SKCA-BR 21 30885427 30885427 single base substitution C T intron_variant SKCA-BR 21 30885565 30885565 single base substitution C T intron_variant SKCA-BR 21 30886101 30886101 single base substitution G A intron_variant SKCA-BR 21 30888106 30888106 single base substitution C T intron_variant SKCA-BR 21 30888117 30888117 single base substitution C T intron_variant SKCA-BR 21 30889310 30889310 single base substitution C T intron_variant SKCA-BR 21 30889311 30889311 single base substitution C T intron_variant SKCA-BR 21 30892003 30892003 single base substitution C T intron_variant SKCA-BR 21 30892201 30892203 deletion of <=200bp AAT - intron_variant SKCA-BR 21 30892203 30892203 single base substitution T A intron_variant SKCA-BR 21 30892225 30892225 single base substitution T A intron_variant SKCA-BR 21 30895124 30895124 single base substitution G A intron_variant SKCA-BR 21 30898419 30898419 single base substitution C T intron_variant SKCA-BR 21 30898574 30898574 single base substitution C T intron_variant SKCA-BR 21 30899029 30899029 single base substitution C T intron_variant SKCA-BR 21 30900924 30900924 single base substitution C T intron_variant SKCA-BR 21 30902488 30902488 single base substitution G A intron_variant SKCA-BR 21 30905387 30905387 single base substitution C T intron_variant SKCA-BR 21 30906015 30906015 single base substitution C A intron_variant SKCA-BR 21 30906546 30906546 single base substitution C T intron_variant SKCA-BR 21 30908909 30908909 single base substitution C T intron_variant SKCA-BR 21 30910465 30910465 single base substitution G A intron_variant SKCA-BR 21 30913291 30913293 deletion of <=200bp ATT - intron_variant SKCA-BR 21 30917311 30917311 single base substitution C A intron_variant SKCA-BR 21 30920261 30920261 single base substitution A G intron_variant SKCA-BR 21 30920283 30920283 single base substitution T G intron_variant SKCA-BR 21 30920951 30920951 single base substitution G A intron_variant SKCA-BR 21 30921996 30921996 insertion of <=200bp - AT intron_variant SKCA-BR 21 30921997 30921997 single base substitution A T intron_variant SKCA-BR 21 30922665 30922665 single base substitution A G intron_variant SKCA-BR 21 30923677 30923677 single base substitution A G intron_variant SKCA-BR 21 30929059 30929059 single base substitution G A intron_variant SKCA-BR 21 30932881 30932883 deletion of <=200bp CTT - intron_variant SKCA-BR 21 30932889 30932889 single base substitution C T intron_variant SKCA-BR 21 30932891 30932891 single base substitution T C intron_variant SKCA-BR 21 30932895 30932895 single base substitution T C intron_variant SKCA-BR 21 30934429 30934429 single base substitution G A intron_variant SKCA-BR 21 30936707 30936707 single base substitution T C intron_variant SKCA-BR 21 30939054 30939054 single base substitution C T intron_variant SKCA-BR 21 30943685 30943686 deletion of <=200bp GA - intron_variant SKCA-BR 21 30945215 30945215 single base substitution C A intron_variant SKCA-BR 21 30945471 30945471 single base substitution G A intron_variant SKCA-BR 21 30946173 30946173 insertion of <=200bp - GA intron_variant SKCA-BR 21 30949126 30949126 single base substitution C T intron_variant SKCA-BR 21 30950318 30950318 single base substitution A C intron_variant SKCA-BR 21 30952297 30952297 insertion of <=200bp - ATGTGTGTGTATATATATG intron_variant SKCA-BR 21 30952303 30952303 single base substitution G A intron_variant SKCA-BR 21 30952305 30952305 single base substitution G A intron_variant SKCA-BR 21 30952680 30952680 single base substitution A C intron_variant SKCA-BR 21 30954107 30954107 single base substitution C T intron_variant SKCA-BR 21 30961131 30961131 single base substitution C T intron_variant SKCA-BR 21 30961673 30961673 single base substitution G A intron_variant SKCA-BR 21 30961917 30961918 deletion of <=200bp AT - intron_variant SKCA-BR 21 30964427 30964427 single base substitution T G intron_variant SKCA-BR 21 30964427 30964427 single base substitution T G upstream_gene_variant SKCA-BR 21 30967270 30967270 single base substitution C T intron_variant SKCA-BR 21 30967270 30967270 single base substitution C T upstream_gene_variant SKCA-BR 21 30967645 30967645 single base substitution G A intron_variant SKCA-BR 21 30967645 30967645 single base substitution G A upstream_gene_variant SKCA-BR 21 30967678 30967678 single base substitution C T intron_variant SKCA-BR 21 30967678 30967678 single base substitution C T upstream_gene_variant SKCA-BR 21 30968664 30968664 single base substitution C T exon_variant SKCA-BR 21 30968664 30968664 single base substitution C T intron_variant SKCA-BR 21 30970878 30970878 single base substitution G C intron_variant SKCA-BR 21 30972000 30972000 single base substitution C T intron_variant SKCA-BR 21 30972838 30972838 single base substitution A G intron_variant SKCA-BR 21 30974470 30974470 single base substitution A T intron_variant SKCA-BR 21 30975353 30975353 single base substitution C T intron_variant SKCA-BR 21 30975354 30975354 single base substitution C T intron_variant SKCA-BR 21 30976138 30976138 single base substitution G A intron_variant SKCA-BR 21 30977436 30977436 single base substitution C A intron_variant SKCA-BR 21 30978985 30978990 deletion of <=200bp AAAAAC - intron_variant SKCA-BR 21 30983448 30983448 single base substitution G A intron_variant SKCA-BR 21 30983795 30983795 single base substitution T C intron_variant SKCA-BR 21 30984310 30984310 single base substitution C T intron_variant SKCA-BR 21 30986463 30986463 single base substitution C A intron_variant SKCA-BR 21 30986843 30986843 single base substitution C T intron_variant SKCA-BR 21 30987310 30987310 single base substitution C T intron_variant SKCA-BR 21 30988452 30988452 single base substitution G A intron_variant SKCA-BR 21 30989517 30989517 single base substitution G A intron_variant SKCA-BR 21 30990169 30990169 single base substitution G A intron_variant SKCA-BR 21 30990725 30990725 single base substitution C T intron_variant SKCA-BR 21 30990780 30990780 single base substitution A G intron_variant SKCA-BR 21 30990820 30990820 single base substitution G A intron_variant SKCA-BR 21 30991641 30991641 single base substitution C T intron_variant SKCA-BR 21 30991784 30991785 deletion of <=200bp CT - intron_variant SKCA-BR 21 30992289 30992289 single base substitution G A intron_variant SKCA-BR 21 30993118 30993118 insertion of <=200bp - TAG intron_variant SKCA-BR 21 30994184 30994184 single base substitution G A intron_variant SKCA-BR 21 30995607 30995607 single base substitution G A intron_variant SKCA-BR 21 30997433 30997433 single base substitution T C intron_variant SKCA-BR 21 31000128 31000128 single base substitution C T intron_variant SKCA-BR 21 31001509 31001509 single base substitution G A intron_variant SKCA-BR 21 31001720 31001720 single base substitution G A intron_variant SKCA-BR 21 31003266 31003266 single base substitution T G downstream_gene_variant SKCA-BR 21 31004343 31004343 single base substitution G A downstream_gene_variant SKCM-US 21 30693685 30693685 single base substitution G A downstream_gene_variant SKCM-US 21 30693685 30693685 single base substitution G A synonymous_variant R28R 84G>A SKCM-US 21 30693736 30693736 single base substitution C T downstream_gene_variant SKCM-US 21 30693736 30693736 single base substitution C T synonymous_variant F45F 135C>T SKCM-US 21 30693751 30693751 single base substitution C T downstream_gene_variant SKCM-US 21 30693751 30693751 single base substitution C T synonymous_variant S50S 150C>T SKCM-US 21 30693778 30693778 single base substitution C T downstream_gene_variant SKCM-US 21 30693778 30693778 single base substitution C T synonymous_variant F59F 177C>T SKCM-US 21 30698572 30698572 single base substitution A C downstream_gene_variant SKCM-US 21 30698572 30698572 single base substitution A C missense_variant K143Q 427A>C SKCM-US 21 30698572 30698572 single base substitution A C upstream_gene_variant SKCM-US 21 30698863 30698863 single base substitution C T downstream_gene_variant SKCM-US 21 30698863 30698863 single base substitution C T missense_variant R240C 718C>T SKCM-US 21 30698863 30698863 single base substitution C T upstream_gene_variant SKCM-US 21 30714787 30714787 single base substitution A G intron_variant SKCM-US 21 30714787 30714787 single base substitution A G missense_variant Q615R 1844A>G SKCM-US 21 30715024 30715024 single base substitution G A intron_variant SKCM-US 21 30715024 30715024 single base substitution G A missense_variant R694Q 2081G>A SKCM-US 21 30723990 30723990 single base substitution C T intron_variant SKCM-US 21 30909680 30909680 single base substitution T A intron_variant SKCM-US 21 30925914 30925914 single base substitution T C intron_variant SKCM-US 21 30927444 30927444 single base substitution G T intron_variant SKCM-US 21 30927556 30927556 single base substitution C T intron_variant SKCM-US 21 30933998 30933998 single base substitution G A intron_variant SKCM-US 21 30934004 30934004 single base substitution T C intron_variant SKCM-US 21 30934107 30934107 single base substitution G A intron_variant SKCM-US 21 30949456 30949456 single base substitution C T intron_variant SKCM-US 21 30949459 30949459 single base substitution C A intron_variant SKCM-US 21 30949498 30949498 single base substitution G A intron_variant SKCM-US 21 30953850 30953850 single base substitution C T intron_variant SKCM-US 21 30959753 30959753 single base substitution G A intron_variant SKCM-US 21 30961161 30961161 single base substitution G A intron_variant SKCM-US 21 30961252 30961252 single base substitution G A intron_variant SKCM-US 21 30961275 30961275 single base substitution C T intron_variant SKCM-US 21 30961298 30961298 single base substitution C T intron_variant SKCM-US 21 30961309 30961309 single base substitution G C intron_variant SKCM-US 21 30971160 30971160 single base substitution C T intron_variant SKCM-US 21 30971164 30971164 single base substitution C T intron_variant SKCM-US 21 30971201 30971201 single base substitution C T intron_variant STAD-US 21 30693734 30693734 single base substitution T C downstream_gene_variant STAD-US 21 30693734 30693734 single base substitution T C missense_variant F45L 133T>C STAD-US 21 30693751 30693751 single base substitution C T downstream_gene_variant STAD-US 21 30693751 30693751 single base substitution C T synonymous_variant S50S 150C>T STAD-US 21 30698571 30698571 deletion of <=200bp A - downstream_gene_variant STAD-US 21 30698571 30698571 deletion of <=200bp A - frameshift_variant R142 STAD-US 21 30698571 30698571 deletion of <=200bp A - upstream_gene_variant STAD-US 21 30698948 30698948 single base substitution C T downstream_gene_variant STAD-US 21 30698948 30698948 single base substitution C T missense_variant P268L 803C>T STAD-US 21 30698948 30698948 single base substitution C T upstream_gene_variant STAD-US 21 30699050 30699050 deletion of <=200bp A - downstream_gene_variant STAD-US 21 30699050 30699050 deletion of <=200bp A - frameshift_variant E302 STAD-US 21 30699050 30699050 deletion of <=200bp A - upstream_gene_variant STAD-US 21 30701983 30701983 single base substitution T C downstream_gene_variant STAD-US 21 30701983 30701983 single base substitution T C missense_variant I147T 440T>C STAD-US 21 30701983 30701983 single base substitution T C missense_variant I582T 1745T>C STAD-US 21 30701983 30701983 single base substitution T C missense_variant I98T 293T>C STAD-US 21 30714967 30714967 single base substitution G A intron_variant STAD-US 21 30714967 30714967 single base substitution G A missense_variant R675Q 2024G>A STAD-US 21 30715090 30715090 single base substitution G A intron_variant STAD-US 21 30715090 30715090 single base substitution G A missense_variant R716H 2147G>A STAD-US 21 30925894 30925894 single base substitution G T intron_variant STAD-US 21 30927571 30927571 single base substitution T G intron_variant STAD-US 21 30949413 30949413 single base substitution C T intron_variant STAD-US 21 30949440 30949440 single base substitution G T intron_variant STAD-US 21 30961219 30961219 single base substitution T C intron_variant THCA-SA 21 30971183 30971183 single base substitution G A intron_variant THCA-US 21 30961208 30961208 single base substitution T G intron_variant UCEC-US 21 30693729 30693729 single base substitution A G downstream_gene_variant UCEC-US 21 30693729 30693729 single base substitution A G missense_variant Q43R 128A>G UCEC-US 21 30698548 30698548 single base substitution G A downstream_gene_variant UCEC-US 21 30698548 30698548 single base substitution G A missense_variant A135T 403G>A UCEC-US 21 30698548 30698548 single base substitution G A upstream_gene_variant UCEC-US 21 30698633 30698633 single base substitution G T downstream_gene_variant UCEC-US 21 30698633 30698633 single base substitution G T missense_variant R163M 488G>T UCEC-US 21 30698633 30698633 single base substitution G T upstream_gene_variant UCEC-US 21 30698828 30698828 single base substitution G T downstream_gene_variant UCEC-US 21 30698828 30698828 single base substitution G T missense_variant R228I 683G>T UCEC-US 21 30698828 30698828 single base substitution G T upstream_gene_variant UCEC-US 21 30698920 30698920 single base substitution T C downstream_gene_variant UCEC-US 21 30698920 30698920 single base substitution T C missense_variant S259P 775T>C UCEC-US 21 30698920 30698920 single base substitution T C upstream_gene_variant UCEC-US 21 30698986 30698986 single base substitution G A downstream_gene_variant UCEC-US 21 30698986 30698986 single base substitution G A missense_variant E281K 841G>A UCEC-US 21 30698986 30698986 single base substitution G A upstream_gene_variant UCEC-US 21 30699083 30699083 single base substitution C A downstream_gene_variant UCEC-US 21 30699083 30699083 single base substitution C A missense_variant S313Y 938C>A UCEC-US 21 30699083 30699083 single base substitution C A upstream_gene_variant UCEC-US 21 30699370 30699370 single base substitution G A downstream_gene_variant UCEC-US 21 30699370 30699370 single base substitution G A missense_variant D409N 1225G>A UCEC-US 21 30699370 30699370 single base substitution G A upstream_gene_variant UCEC-US 21 30699416 30699416 single base substitution G A downstream_gene_variant UCEC-US 21 30699416 30699416 single base substitution G A missense_variant G424D 1271G>A UCEC-US 21 30699416 30699416 single base substitution G A upstream_gene_variant UCEC-US 21 30699586 30699588 deletion of <=200bp GAT - downstream_gene_variant UCEC-US 21 30699586 30699588 deletion of <=200bp GAT - inframe_deletion D46 UCEC-US 21 30699586 30699588 deletion of <=200bp GAT - inframe_deletion D481 UCEC-US 21 30699586 30699588 deletion of <=200bp GAT - upstream_gene_variant UCEC-US 21 30701851 30701851 single base substitution G A downstream_gene_variant UCEC-US 21 30701851 30701851 single base substitution G A missense_variant R103Q 308G>A UCEC-US 21 30701851 30701851 single base substitution G A missense_variant R538Q 1613G>A UCEC-US 21 30701851 30701851 single base substitution G A missense_variant R54Q 161G>A UCEC-US 21 30701856 30701856 single base substitution G T downstream_gene_variant UCEC-US 21 30701856 30701856 single base substitution G T missense_variant D105Y 313G>T UCEC-US 21 30701856 30701856 single base substitution G T missense_variant D540Y 1618G>T UCEC-US 21 30701856 30701856 single base substitution G T missense_variant D56Y 166G>T UCEC-US 21 30701923 30701925 deletion of <=200bp GAA - downstream_gene_variant UCEC-US 21 30701923 30701925 deletion of <=200bp GAA - inframe_deletion RR127R UCEC-US 21 30701923 30701925 deletion of <=200bp GAA - inframe_deletion RR562R UCEC-US 21 30701923 30701925 deletion of <=200bp GAA - inframe_deletion RR78R UCEC-US 21 30701962 30701962 single base substitution G A downstream_gene_variant UCEC-US 21 30701962 30701962 single base substitution G A missense_variant R140H 419G>A UCEC-US 21 30701962 30701962 single base substitution G A missense_variant R575H 1724G>A UCEC-US 21 30701962 30701962 single base substitution G A missense_variant R91H 272G>A UCEC-US 21 30715020 30715020 single base substitution G A intron_variant UCEC-US 21 30715020 30715020 single base substitution G A missense_variant A693T 2077G>A UCEC-US 21 30715024 30715024 single base substitution G A intron_variant UCEC-US 21 30715024 30715024 single base substitution G A missense_variant R694Q 2081G>A UCEC-US 21 30715070 30715070 single base substitution T C intron_variant UCEC-US 21 30715070 30715070 single base substitution T C synonymous_variant A709A 2127T>C UCEC-US 21 30927384 30927384 single base substitution C A intron_variant UCEC-US 21 30927527 30927527 single base substitution C T intron_variant UCEC-US 21 30933963 30933963 single base substitution C T intron_variant UCEC-US 21 30934110 30934110 single base substitution C T intron_variant UCEC-US 21 30934171 30934171 single base substitution C A intron_variant UCEC-US 21 30949381 30949381 single base substitution C A intron_variant UCEC-US 21 30949473 30949473 single base substitution C T intron_variant UCEC-US 21 30949474 30949474 single base substitution G A intron_variant UCEC-US 21 30953854 30953854 single base substitution G T intron_variant UCEC-US 21 30959768 30959768 single base substitution G A intron_variant UCEC-US 21 30959775 30959775 single base substitution G T intron_variant UCEC-US 21 30963546 30963546 single base substitution C A intron_variant UCEC-US 21 30963546 30963546 single base substitution C A upstream_gene_variant UCEC-US 21 30968742 30968742 single base substitution A C exon_variant UCEC-US 21 30968742 30968742 single base substitution A C intron_variant UCEC-US 21 30971214 30971214 single base substitution G A intron_variant

Mutation - COSMIC Sample Name Mutation ID Mutation CDS Mutation AA Mutation Description Mutation Genome Position Mutation Strand CSCC-7-T COSM4476123 c.2044C>T p.P682S Substitution - Missense 21:29342666-29342666 + TCGA-AG-A002-01 COSM184849 c.1613G>A p.R538Q Substitution - Missense 21:29329530-29329530 + TCGA-BR-8363-01 COSM4101032 c.2024G>A p.R675Q Substitution - Missense 21:29342646-29342646 + sysucc-880T COSM5463015 c.2132C>A p.P711H Substitution - Missense 21:29342754-29342754 + TCGA-EK-A2PI-01 COSM4831177 c.1756G>A p.E586K Substitution - Missense 21:29329673-29329673 + TCGA-AM-5820-01 COSM3758821 c.1833T>C p.G611G Substitution - coding silent 21:29342455-29342455 + Pat_05_B COSM5858481 c.244A>C p.K82Q Substitution - Missense 21:29326068-29326068 + LUAD-VUMN6 COSM347983 c.111C>T p.T37T Substitution - coding silent 21:29321391-29321391 + BN04T COSM1615953 c.610A>G p.S204G Substitution - Missense 21:29326434-29326434 + HCC89 COSM1615954 c.995A>G p.Y332C Substitution - Missense 21:29326819-29326819 + ACC-3 COSM4967858 c.725G>A p.G242E Substitution - Missense 21:29326549-29326549 + BCM723T COSM5348147 c.432delA p.K144fs*22 Deletion - Frameshift 21:29326256-29326256 + DN1401D COSM5961984 c.979C>T p.H327Y Substitution - Missense 21:29326803-29326803 + I2L-P7-Tumor-Organoid COSM5366311 c.2079G>A p.A693A Substitution - coding silent 21:29342701-29342701 + TCGA-AA-3982-01 COSM297792 c.1523C>T p.T508I Substitution - Missense 21:29327347-29327347 + HCC89T COSM1615954 c.995A>G p.Y332C Substitution - Missense 21:29326819-29326819 + T578 COSM4664987 c.1869A>C p.K623N Substitution - Missense 21:29342491-29342491 + HCT15 COSM1681910 c.1949T>C p.F650S Substitution - Missense 21:29342571-29342571 + TCGA-B5-A11E-01 COSM1029790 c.1271G>A p.G424D Substitution - Missense 21:29327095-29327095 + TCGA-B5-A11Y-01 COSM1029791 c.1441_1443delGAT p.D482delD Deletion - In frame 21:29327265-29327267 + CSCC-54-T COSM4535567 c.2203G>A p.D735N Substitution - Missense 21:29342825-29342825 + 2293771 COSM1029796 c.2077G>A p.A693T Substitution - Missense 21:29342699-29342699 + YUPROST COSM1713878 c.389T>C p.F130S Substitution - Missense 21:29326213-29326213 + T3182 COSM4664983 c.515A>G p.E172G Substitution - Missense 21:29326339-29326339 + TCGA-CG-5721-01 COSM4101029 c.133T>C p.F45L Substitution - Missense 21:29321413-29321413 + Pat_11_A COSM2841837 c.151G>A p.V51M Substitution - Missense 21:29321431-29321431 + TCGA-CA-6717-01 COSM1413558 c.719G>A p.R240H Substitution - Missense 21:29326543-29326543 + HCC32T COSM3707997 c.963T>A p.Y321* Substitution - Nonsense 21:29326787-29326787 + OSCC-GB_00410111 COSM3713382 c.54C>T p.T18T Substitution - coding silent 21:29321334-29321334 + SH-85592 COSM5017645 c.2005A>G p.I669V Substitution - Missense 21:29342627-29342627 + HCC32 COSM3707997 c.963T>A p.Y321* Substitution - Nonsense 21:29326787-29326787 + HCT-15 COSM1681910 c.1949T>C p.F650S Substitution - Missense 21:29342571-29342571 + TCGA-BS-A0UF-01 COSM1029788 c.938C>A p.S313Y Substitution - Missense 21:29326762-29326762 + TCGA-EE-A3J4-06 COSM3911991 c.177C>T p.F59F Substitution - coding silent 21:29321457-29321457 + CHC2128T COSM4956822 c.1741T>A p.C581S Substitution - Missense 21:29329658-29329658 + TCGA-EE-A2MJ-06 COSM3550062 c.718C>T p.R240C Substitution - Missense 21:29326542-29326542 + S00832 COSM5660891 c.1932A>G p.A644A Substitution - coding silent 21:29342554-29342554 + 034T COSM1731497 c.188_204del17 p.I63fs*14 Deletion - Frameshift 21:29321468-29321484 + RK003_C COSM53405 c.894G>C p.Q298H Substitution - Missense 21:29326718-29326718 + Pat_05_A COSM5858481 c.244A>C p.K82Q Substitution - Missense 21:29326068-29326068 + TCGA-CA-6717-01 COSM1413561 c.1290G>T p.Q430H Substitution - Missense 21:29327114-29327114 + TCGA-LP-A4AX-01 COSM4829832 c.443C>T p.S148L Substitution - Missense 21:29326267-29326267 + TCGA-LP-A4AV-01 COSM4825427 c.1888C>G p.L630V Substitution - Missense 21:29342510-29342510 + TCGA-BS-A0UM-01 COSM1029792 c.1594C>T p.R532W Substitution - Missense 21:29329511-29329511 + TCGA-AB-2857-03 COSM1318818 c.2023C>A p.R675R Substitution - coding silent 21:29342645-29342645 + DLD1 COSM1681909 c.1414T>C p.C472R Substitution - Missense 21:29327238-29327238 + TCGA-B5-A0JY-01 COSM177820 c.841G>A p.E281K Substitution - Missense 21:29326665-29326665 + TCGA-BR-4368-01 COSM4101031 c.1745T>C p.I582T Substitution - Missense 21:29329662-29329662 + HCT15 COSM1681909 c.1414T>C p.C472R Substitution - Missense 21:29327238-29327238 + TCGA-EE-A182-06 COSM3550061 c.427A>C p.K143Q Substitution - Missense 21:29326251-29326251 + TCGA-AP-A0LM-01 COSM1029789 c.1225G>A p.D409N Substitution - Missense 21:29327049-29327049 + TCGA-EK-A2H0-01 COSM4818995 c.965C>G p.S322C Substitution - Missense 21:29326789-29326789 + BN04 COSM1615953 c.610A>G p.S204G Substitution - Missense 21:29326434-29326434 + TCGA-D1-A177-01 COSM1029796 c.2077G>A p.A693T Substitution - Missense 21:29342699-29342699 + CHC2128T COSM4956822 c.1741T>A p.C581S Substitution - Missense 21:29329658-29329658 + BCM695T COSM4802838 c.1846A>C p.N616H Substitution - Missense 21:29342468-29342468 + TCGA-24-1555-01 COSM79337 c.2119G>T p.E707* Substitution - Nonsense 21:29342741-29342741 + CHC674T COSM3668515 c.96G>A p.V32V Substitution - coding silent 21:29321376-29321376 + QC2-05-T2 COSM5651994 c.1837A>C p.T613P Substitution - Missense 21:29342459-29342459 + 452 COSM4435851 c.1442A>T p.D481V Substitution - Missense 21:29327266-29327266 + PTC-77C COSM4134863 c.1690A>C p.R564R Substitution - coding silent 21:29329607-29329607 + TCGA-AZ-4615-01 COSM3693756 c.136C>A p.R46S Substitution - Missense 21:29321416-29321416 + SC_9104 COSM2841837 c.151G>A p.V51M Substitution - Missense 21:29321431-29321431 + TCGA-EI-6917-01 COSM184849 c.1613G>A p.R538Q Substitution - Missense 21:29329530-29329530 + pfg181T COSM1029792 c.1594C>T p.R532W Substitution - Missense 21:29329511-29329511 + Pat_41_B COSM5858482 c.2045C>T p.P682L Substitution - Missense 21:29342667-29342667 + CCK81 COSM2841865 c.1994C>T p.A665V Substitution - Missense 21:29342616-29342616 + PD9464a COSM5792508 c.38C>G p.S13C Substitution - Missense 21:29321318-29321318 + HCT8 COSM1681909 c.1414T>C p.C472R Substitution - Missense 21:29327238-29327238 + TCGA-EE-A3AE-06 COSM3550059 c.135C>T p.F45F Substitution - coding silent 21:29321415-29321415 + 41T COSM3713382 c.54C>T p.T18T Substitution - coding silent 21:29321334-29321334 + TCGA-DG-A2KH-01 COSM4851254 c.1946C>T p.S649L Substitution - Missense 21:29342568-29342568 + CSCC-55-T COSM4482161 c.257C>T p.P86L Substitution - Missense 21:29326081-29326081 + 452 COSM4435850 c.1441G>T p.D481Y Substitution - Missense 21:29327265-29327265 + TCGA-BP-4989-01 COSM478474 c.128A>G p.Q43R Substitution - Missense 21:29321408-29321408 + I2L-P7-Tumor-Organoid COSM5366339 c.888T>G p.A296A Substitution - coding silent 21:29326712-29326712 + TCGA-BR-4361-01 COSM3550060 c.150C>T p.S50S Substitution - coding silent 21:29321430-29321430 + T3091 COSM4664984 c.725G>T p.G242V Substitution - Missense 21:29326549-29326549 + 587332 COSM1184357 c.1586A>G p.N529S Substitution - Missense 21:29329503-29329503 + TCGA-AP-A056-01 COSM1029785 c.683G>T p.R228I Substitution - Missense 21:29326507-29326507 + BCM695T COSM4802838 c.1846A>C p.N616H Substitution - Missense 21:29342468-29342468 + S00936 COSM309417 c.1066G>A p.V356I Substitution - Missense 21:29326890-29326890 + T263 COSM4664985 c.882T>C p.D294D Substitution - coding silent 21:29326706-29326706 + 587376 COSM1184358 c.425G>T p.R142I Substitution - Missense 21:29326249-29326249 + TCGA-AN-A0AK-01 COSM3841697 c.1220G>A p.S407N Substitution - Missense 21:29327044-29327044 + VLTS-2 COSM5702655 c.1787A>G p.K596R Substitution - Missense 21:29342409-29342409 + TCGA-EE-A2GU-06 COSM3550060 c.150C>T p.S50S Substitution - coding silent 21:29321430-29321430 + TCGA-A3-3326-01 COSM478475 c.1985G>T p.G662V Substitution - Missense 21:29342607-29342607 + ccRCC-68 COSM1660723 c.1813C>T p.H605Y Substitution - Missense 21:29342435-29342435 + TCGA-B5-A0K6-01 COSM1029787 c.810T>C p.C270C Substitution - coding silent 21:29326634-29326634 + TCGA-DD-A11A-01 COSM4940452 c.913G>A p.E305K Substitution - Missense 21:29326737-29326737 + TCGA-F5-6814-01 COSM3423888 c.686A>C p.K229T Substitution - Missense 21:29326510-29326510 + B80 COSM1751595 c.2142G>A p.Q714Q Substitution - coding silent 21:29342764-29342764 + B80-Tumor COSM1751595 c.2142G>A p.Q714Q Substitution - coding silent 21:29342764-29342764 + S00837 COSM309416 c.597A>G p.L199L Substitution - coding silent 21:29326421-29326421 + PT35 COSM5914345 c.1373C>T p.S458F Substitution - Missense 21:29327197-29327197 + TCGA-FU-A40J-01 COSM4844071 c.1298C>G p.S433C Substitution - Missense 21:29327122-29327122 + TCGA-B5-A0K9-01 COSM1029798 c.2127T>C p.A709A Substitution - coding silent 21:29342749-29342749 + TCGA-D5-6928-01 COSM1413559 c.809G>A p.C270Y Substitution - Missense 21:29326633-29326633 + SJHGG037_D COSM4970740 c.2080C>G p.R694G Substitution - Missense 21:29342702-29342702 + TCGA-AR-A1AQ-01 COSM444333 c.1262C>T p.A421V Substitution - Missense 21:29327086-29327086 + sysucc-311T COSM5465047 c.1468G>A p.E490K Substitution - Missense 21:29327292-29327292 + TCGA-AX-A0J1-01 COSM1029784 c.488G>T p.R163M Substitution - Missense 21:29326312-29326312 + TCGA-B0-4843-01 COSM3363407 c.2020G>T p.D674Y Substitution - Missense 21:29342642-29342642 + Pat_44_B COSM4476123 c.2044C>T p.P682S Substitution - Missense 21:29342666-29342666 + TCGA-D1-A16Y-01 COSM184849 c.1613G>A p.R538Q Substitution - Missense 21:29329530-29329530 + CSCC-7-T COSM4569045 c.1474T>C p.C492R Substitution - Missense 21:29327298-29327298 + S00837 COSM309416 c.597A>G p.L199L Substitution - coding silent 21:29326421-29326421 + 8031680 COSM1159566 c.1024A>C p.N342H Substitution - Missense 21:29326848-29326848 + ICGC_0066 COSM1159566 c.1024A>C p.N342H Substitution - Missense 21:29326848-29326848 + LUAD-S00499 COSM385355 c.46C>T p.H16Y Substitution - Missense 21:29321326-29321326 + TCGA-CG-4306-01 COSM4101030 c.803C>T p.P268L Substitution - Missense 21:29326627-29326627 + T3724 COSM4664986 c.1424A>G p.N475S Substitution - Missense 21:29327248-29327248 + TCGA-B5-A11E-01 COSM1029786 c.775T>C p.S259P Substitution - Missense 21:29326599-29326599 + CSCC-20-T COSM4516027 c.1523_1524CC>TT p.T508I Substitution - Missense 21:29327347-29327348 + TCGA-EE-A2GI-06 COSM3423887 c.84G>A p.R28R Substitution - coding silent 21:29321364-29321364 + TCGA-CF-A1HS-01 COSM419276 c.1624C>G p.Q542E Substitution - Missense 21:29329541-29329541 + tumor_4113825 COSM2841866 c.2023C>T p.R675W Substitution - Missense 21:29342645-29342645 + CSCC-55-T COSM4478436 c.223C>T p.L75F Substitution - Missense 21:29321503-29321503 + P161 COSM1737754 c.1543T>C p.C515R Substitution - Missense 21:29327367-29327367 + TCGA-AZ-6601-01 COSM1413560 c.863C>A p.P288H Substitution - Missense 21:29326687-29326687 + HCC37 COSM1615955 c.1701C>A p.N567K Substitution - Missense 21:29329618-29329618 + 8066491 COSM3771127 c.1700A>G p.N567S Substitution - Missense 21:29329617-29329617 + TCGA-B5-A11J-01 COSM1029797 c.2081G>A p.R694Q Substitution - Missense 21:29342703-29342703 + 392 COSM4428240 c.398C>T p.S133F Substitution - Missense 21:29326222-29326222 + TCGA-B5-A0JZ-01 COSM1029783 c.403G>A p.A135T Substitution - Missense 21:29326227-29326227 + TCGA-AP-A056-01 COSM177820 c.841G>A p.E281K Substitution - Missense 21:29326665-29326665 + TCGA-21-1077-01 COSM725401 c.453G>T p.Q151H Substitution - Missense 21:29326277-29326277 + 113368 COSM324792 c.1624C>T p.Q542* Substitution - Nonsense 21:29329541-29329541 + TCGA-B5-A11E-01 COSM478474 c.128A>G p.Q43R Substitution - Missense 21:29321408-29321408 + TCGA-B5-A11H-01 COSM1029794 c.1685_1687delGAA p.R564delR Deletion - In frame 21:29329602-29329604 + TCGA-BT-A20W-01 COSM419277 c.972T>G p.S324S Substitution - coding silent 21:29326796-29326796 + 18 COSM1029795 c.1724G>A p.R575H Substitution - Missense 21:29329641-29329641 + TCGA-D7-A4YV-01 COSM4101033 c.2147G>A p.R716H Substitution - Missense 21:29342769-29342769 + TCGA-BH-A0HO-01 COSM444332 c.1171C>T p.R391* Substitution - Nonsense 21:29326995-29326995 + TCGA-GF-A6C9-06 COSM4903235 c.1844A>G p.Q615R Substitution - Missense 21:29342466-29342466 + TCGA-B5-A11E-01 COSM1029793 c.1618G>T p.D540Y Substitution - Missense 21:29329535-29329535 + HCT-15 COSM1681909 c.1414T>C p.C472R Substitution - Missense 21:29327238-29327238 + TCGA-AX-A0J0-01 COSM1029795 c.1724G>A p.R575H Substitution - Missense 21:29329641-29329641 + HCC37T COSM1615955 c.1701C>A p.N567K Substitution - Missense 21:29329618-29329618 + 587222 COSM1184356 c.261A>C p.L87F Substitution - Missense 21:29326085-29326085 + 254891 COSM3724845 c.997G>A p.G333S Substitution - Missense 21:29326821-29326821 + TCGA-F5-6814-01 COSM3423887 c.84G>A p.R28R Substitution - coding silent 21:29321364-29321364 + ESCC_BICR_061T COSM5430809 c.1981G>C p.D661H Substitution - Missense 21:29342603-29342603 + TCGA-AA-A010-01 COSM279108 c.540G>T p.Q180H Substitution - Missense 21:29326364-29326364 + TCGA-EE-A3AD-06 COSM1029797 c.2081G>A p.R694Q Substitution - Missense 21:29342703-29342703 + BD87T COSM5505461 c.806A>G p.E269G Substitution - Missense 21:29326630-29326630 + 71 COSM4777550 c.1915G>A p.A639T Substitution - Missense 21:29342537-29342537 +

Mutation - CGAP UNIGENE CYTOBAND OMIM SNP Hs.154276 21q22.11 602751 2443842|CGAP|BC063307|A/G|non-coding||5347|Validated

Mutation - IntOGen Mutated from(ref) Mutated to(alt) Consequence Type AA Mutation CDS Mutation Chr Pos Cancer A C Missense p.K143Q c.427A>C 21 30698572 CM A C Missense p.N342H c.1024A>C 21 30699169 PAAD A - Frameshift p.T291Rfs*16 c.871delA 21 30699014 THCA A G Missense p.Q43R c.128A>G 21 30693729 RCCC A G Synonymous p.L199L c.597A>G 21 30698742 SCLC C A Synonymous p.R675R c.2023C>A 21 30714966 AML CC TT Missense p.R240C c.717_718delinsTT 21 30698862 CM C G Missense p.Q542E c.1624C>G 21 30701862 BLCA C G Missense p.S2C c.5C>G 21 30693606 GBM C T 3-UTRSNV . c.2208+756C>T 21 30715907 DLBCL C T Missense p.A421V c.1262C>T 21 30699407 BRCA C T Missense p.P268L c.803C>T 21 30698948 STAD C T Missense p.R240C c.718C>T 21 30698863 CM C T Missense p.T508I c.1523C>T 21 30699668 COREAD C T Nonsense p.Q542* c.1624C>T 21 30701862 SCLC C T Nonsense p.R391* c.1171C>T 21 30699316 BRCA C T Synonymous p.F45F c.135C>T 21 30693736 CM C T Synonymous p.F59F c.177C>T 21 30693778 CM C T Synonymous p.I63I c.189C>T 21 30693790 CM C T Synonymous p.S50S c.150C>T 21 30693751 CM G A 3-UTRSNV . c.2208+57G>A 21 30715208 MM GAA - InFrameDeletion p.R564delR c.1692_1694delAAG 21 30701923 UCEC G A Missense p.A135T c.403G>A 21 30698548 UCEC G A Missense p.A693T c.2077G>A 21 30715020 UCEC G A Missense p.E257K c.769G>A 21 30698914 CM G A Missense p.R538Q c.1613G>A 21 30701851 UCEC G A Missense p.R575H c.1724G>A 21 30701962 HNSC G A Missense p.R694Q c.2081G>A 21 30715024 CM G A Missense p.R694Q c.2081G>A 21 30715024 UCEC G A Missense p.V356I c.1066G>A 21 30699211 SCLC G A Synonymous p.R28R c.84G>A 21 30693685 CM GAT - InFrameDeletion p.D482delD c.1444_1446delGAT 21 30699586 UCEC G C Missense p.Q298H c.894G>C 21 30699039 HC G T Missense p.C683F c.2048G>T 21 30714991 LUAD G T Missense p.D35Y c.103G>T 21 30693704 HNSC G T Missense p.D674Y c.2020G>T 21 30714963 RCCC G T Missense p.G662V c.1985G>T 21 30714928 RCCC G T Missense p.L351F c.1053G>T 21 30699198 LUAD G T Missense p.Q151H c.453G>T 21 30698598 LUSC G T Missense p.Q415H c.1245G>T 21 30699390 LUAD G T Nonsense p.E120* c.358G>T 21 30698503 LUAD G T Nonsense p.E707* c.2119G>T 21 30715062 OV TA - Frameshift p.L456*fs*1 c.1367_1368delTA 21 30699512 LGG TC AG Missense p.I63K c.188_189delinsAG 21 30693789 CM T C Missense p.I582T c.1745T>C 21 30701983 STAD T C Synonymous p.A709A c.2127T>C 21 30715070 UCEC T C Synonymous p.S379S c.1137T>C 21 30699282 CM T G Synonymous p.S324S c.972T>G 21 30699117 BLCA