Mutation - TCGA Type Chromosome Start Position End Position Strand Variant Classification Variant Type Reference Allele Tumor_seq Allele 1 Tumor_seq Allele 2 Tumor Sample Barcode Matched Norm Sample Barcode Genome Change cDNA Change Codon Change Protein Change BLCA 1 175956094 175956094 + Silent SNP C C T TCGA-XF-AAN0-01A-11D-A42E-08 TCGA-XF-AAN0-10A-01D-A42H-08 g.chr1:175956094C>T c.2118G>A c.(2116-2118)agG>agA p.R706R BLCA 1 175958595 175958595 + Missense_Mutation SNP C C G TCGA-SY-A9G5-01A-11D-A38G-08 TCGA-SY-A9G5-10A-01D-A38J-08 g.chr1:175958595C>G c.1750G>C c.(1750-1752)Gat>Cat p.D584H BLCA 1 175996740 175996740 + Missense_Mutation SNP G G A TCGA-K4-A54R-01A-11D-A26M-08 TCGA-K4-A54R-10A-01D-A26K-08 g.chr1:175996740G>A c.1697C>T c.(1696-1698)tCt>tTt p.S566F BLCA 1 175996748 175996748 + Silent SNP G G A TCGA-DK-AA6R-01A-11D-A42E-08 TCGA-DK-AA6R-10A-01D-A42H-08 g.chr1:175996748G>A c.1689C>T c.(1687-1689)ttC>ttT p.F563F BLCA 1 176012859 176012859 + Missense_Mutation SNP G G A TCGA-DK-A1AC-01A-11D-A13W-08 TCGA-DK-A1AC-10A-01D-A13W-08 g.chr1:176012859G>A c.1517C>T c.(1516-1518)tCa>tTa p.S506L BLCA 1 176050418 176050418 + Missense_Mutation SNP T T C TCGA-CU-A3KJ-01A-11D-A21A-08 TCGA-CU-A3KJ-10A-01D-A21A-08 g.chr1:176050418T>C c.1147A>G c.(1147-1149)Agt>Ggt p.S383G BLCA 1 176085807 176085807 + Missense_Mutation SNP C C T TCGA-ZF-A9RC-01A-11D-A38G-08 TCGA-ZF-A9RC-10A-01D-A38J-08 g.chr1:176085807C>T c.979G>A c.(979-981)Gat>Aat p.D327N BLCA 1 176132971 176132971 + Missense_Mutation SNP C C G TCGA-KQ-A41S-01A-12D-A339-08 TCGA-KQ-A41S-10C-01D-A339-08 g.chr1:176132971C>G c.622G>C c.(622-624)Gac>Cac p.D208H BLCA 1 176133011 176133011 + Silent SNP A A G TCGA-FD-A3N5-01A-11D-A21A-08 TCGA-FD-A3N5-10A-01D-A21A-08 g.chr1:176133011A>G c.582T>C c.(580-582)ctT>ctC p.L194L BRCA 1 175958531 175958531 + Missense_Mutation SNP G G T TCGA-A7-A5ZV-01A-11D-A28B-09 TCGA-A7-A5ZV-10A-01D-A28E-09 g.chr1:175958531G>T c.1814C>A c.(1813-1815)gCa>gAa p.A605E BRCA 1 176012377 176012377 + Silent SNP A A T TCGA-EW-A1P4-01A-21D-A142-09 TCGA-EW-A1P4-10A-01D-A142-09 g.chr1:176012377A>T c.1557T>A c.(1555-1557)gtT>gtA p.V519V BRCA 1 176012391 176012391 + Silent SNP T T G TCGA-A1-A0SK-01A-12D-A099-09 TCGA-A1-A0SK-10A-03D-A099-09 g.chr1:176012391T>G c.1543A>C c.(1543-1545)Agg>Cgg p.R515R BRCA 1 176132107 176132107 + Missense_Mutation SNP C C G TCGA-AC-A23H-01A-11D-A159-09 TCGA-AC-A23H-11A-12D-A17G-09 g.chr1:176132107C>G c.660G>C c.(658-660)caG>caC p.Q220H CESC 1 175996801 175996801 + Missense_Mutation SNP C C G TCGA-JW-A5VL-01A-11D-A28B-09 TCGA-JW-A5VL-10A-01D-A28E-09 g.chr1:175996801C>G c.1636G>C c.(1636-1638)Gac>Cac p.D546H CESC 1 175996812 175996812 + Missense_Mutation SNP G G C TCGA-IR-A3LF-01A-21D-A22X-09 TCGA-IR-A3LF-10A-01D-A22X-09 g.chr1:175996812G>C c.1625C>G c.(1624-1626)tCt>tGt p.S542C CESC 1 176133017 176133017 + Silent SNP G G C TCGA-EK-A3GK-01A-11D-A20U-09 TCGA-EK-A3GK-10A-01D-A20U-09 g.chr1:176133017G>C c.576C>G c.(574-576)ctC>ctG p.L192L CHOL 1 175956191 175956191 + Missense_Mutation SNP G G T TCGA-3X-AAVE-01A-11D-A417-09 TCGA-3X-AAVE-10A-01D-A41A-09 g.chr1:175956191G>T c.2021C>A c.(2020-2022)aCt>aAt p.T674N COAD 1 175996718 175996718 + Silent SNP G G A TCGA-CA-6717-01A-11D-1835-10 TCGA-CA-6717-10A-01D-1835-10 g.chr1:175996718G>A c.1719C>T c.(1717-1719)ttC>ttT p.F573F COAD 1 176012862 176012862 + Missense_Mutation SNP C C A TCGA-AA-A00J-01A-02W-A005-10 TCGA-AA-A00J-10A-01W-A005-10 g.chr1:176012862C>A c.1514G>T c.(1513-1515)aGg>aTg p.R505M COAD 1 176012866 176012866 + Nonsense_Mutation SNP G G A TCGA-AA-3877-01A-01W-0995-10 TCGA-AA-3877-10A-01W-0995-10 g.chr1:176012866G>A c.1510C>T c.(1510-1512)Cag>Tag p.Q504* COAD 1 176015348 176015348 + Missense_Mutation SNP C C T TCGA-D5-6924-01A-11D-1924-10 TCGA-D5-6924-10A-01D-1924-10 g.chr1:176015348C>T c.1390G>A c.(1390-1392)Gag>Aag p.E464K COAD 1 176054932 176054932 + Missense_Mutation SNP G G A TCGA-AA-3845-01A-01W-0995-10 TCGA-AA-3845-10A-01W-0995-10 g.chr1:176054932G>A c.1121C>T c.(1120-1122)aCa>aTa p.T374I COAD 1 176175717 176175717 + Missense_Mutation SNP T T C TCGA-AA-A00N-01A-02W-A00E-09 TCGA-AA-A00N-10A-01W-A00E-09 g.chr1:176175717T>C c.398A>G c.(397-399)gAc>gGc p.D133G COADREAD 1 175996718 175996718 + Silent SNP G G A TCGA-CA-6717-01A-11D-1835-10 TCGA-CA-6717-10A-01D-1835-10 g.chr1:175996718G>A c.1719C>T c.(1717-1719)ttC>ttT p.F573F COADREAD 1 176012862 176012862 + Missense_Mutation SNP C C A TCGA-AA-A00J-01A-02W-A005-10 TCGA-AA-A00J-10A-01W-A005-10 g.chr1:176012862C>A c.1514G>T c.(1513-1515)aGg>aTg p.R505M COADREAD 1 176012866 176012866 + Nonsense_Mutation SNP G G A TCGA-AA-3877-01A-01W-0995-10 TCGA-AA-3877-10A-01W-0995-10 g.chr1:176012866G>A c.1510C>T c.(1510-1512)Cag>Tag p.Q504* COADREAD 1 176015348 176015348 + Missense_Mutation SNP C C T TCGA-D5-6924-01A-11D-1924-10 TCGA-D5-6924-10A-01D-1924-10 g.chr1:176015348C>T c.1390G>A c.(1390-1392)Gag>Aag p.E464K COADREAD 1 176054932 176054932 + Missense_Mutation SNP G G A TCGA-AA-3845-01A-01W-0995-10 TCGA-AA-3845-10A-01W-0995-10 g.chr1:176054932G>A c.1121C>T c.(1120-1122)aCa>aTa p.T374I COADREAD 1 176132982 176132982 + Missense_Mutation SNP C C A TCGA-AG-A002-01A-01W-A00K-09 TCGA-AG-A002-10A-01W-A00K-09 g.chr1:176132982C>A c.611G>T c.(610-612)aGg>aTg p.R204M COADREAD 1 176175717 176175717 + Missense_Mutation SNP T T C TCGA-AA-A00N-01A-02W-A00E-09 TCGA-AA-A00N-10A-01W-A00E-09 g.chr1:176175717T>C c.398A>G c.(397-399)gAc>gGc p.D133G ESCA 1 175957539 175957539 + Missense_Mutation SNP G G T TCGA-IG-A97H-01A-11D-A387-09 TCGA-IG-A97H-10A-01D-A38A-09 g.chr1:175957539G>T c.1857C>A c.(1855-1857)gaC>gaA p.D619E GBMLGG 1 175957522 175957523 + Frame_Shift_Del DEL CA CA - TCGA-DU-A5TS-01A-11D-A289-08 TCGA-DU-A5TS-10A-01D-A289-08 g.chr1:175957522_175957523delCA c.1873_1874delTG c.(1873-1875)tggfs p.W625fs GBMLGG 1 176105629 176105629 + Missense_Mutation SNP C C T TCGA-DU-6392-01A-11D-1705-08 TCGA-DU-6392-10A-01D-1705-08 g.chr1:176105629C>T c.886G>A c.(886-888)Gtg>Atg p.V296M GBMLGG 1 176132075 176132075 + Missense_Mutation SNP T T C TCGA-DH-5140-01A-01D-1468-08 TCGA-DH-5140-10A-01D-1468-08 g.chr1:176132075T>C c.692A>G c.(691-693)gAt>gGt p.D231G GBMLGG 1 176132079 176132079 + Nonsense_Mutation SNP G G A TCGA-DU-6406-01A-11D-1705-08 TCGA-DU-6406-10A-01D-1705-08 g.chr1:176132079G>A c.688C>T c.(688-690)Caa>Taa p.Q230* HNSC 1 176012350 176012350 + Silent SNP G G C TCGA-CN-A6V1-01A-12D-A34J-08 TCGA-CN-A6V1-10B-01D-A34M-08 g.chr1:176012350G>C c.1584C>G c.(1582-1584)ctC>ctG p.L528L HNSC 1 176012927 176012927 + Missense_Mutation SNP C C G TCGA-DQ-5629-01A-01D-1870-08 TCGA-DQ-5629-10A-01D-1870-08 g.chr1:176012927C>G c.1449G>C c.(1447-1449)aaG>aaC p.K483N HNSC 1 176132984 176132984 + Silent SNP C C T TCGA-D6-A6ES-01A-12D-A31L-08 TCGA-D6-A6ES-10A-01D-A31J-08 g.chr1:176132984C>T c.609G>A c.(607-609)aaG>aaA p.K203K HNSC 1 176175841 176175841 + Missense_Mutation SNP C C A TCGA-UF-A7J9-01A-12D-A34J-08 TCGA-UF-A7J9-10A-01D-A34M-08 g.chr1:176175841C>A c.274G>T c.(274-276)Gcg>Tcg p.A92S KIPAN 1 175914297 175914297 + Silent SNP A A G TCGA-BQ-5882-01A-11D-1589-08 TCGA-BQ-5882-11A-01D-1589-08 g.chr1:175914297A>G c.2188T>C c.(2188-2190)Ttg>Ctg p.L730L KIPAN 1 175996826 175996826 + Splice_Site SNP T T C TCGA-MH-A561-01A-11D-A26P-10 TCGA-MH-A561-10A-01D-A26P-10 g.chr1:175996826T>C c.e15-2 KIPAN 1 176055007 176055007 + Missense_Mutation SNP T T C TCGA-BP-5177-01A-01D-1429-08 TCGA-BP-5177-11A-01D-1429-08 g.chr1:176055007T>C c.1046A>G c.(1045-1047)tAt>tGt p.Y349C KIPAN 1 176105635 176105635 + Missense_Mutation SNP T T G TCGA-B9-A8YI-01A-21D-A36X-10 TCGA-B9-A8YI-10A-01D-A370-10 g.chr1:176105635T>G c.880A>C c.(880-882)Aag>Cag p.K294Q KIPAN 1 176132093 176132093 + Missense_Mutation SNP C C A TCGA-AK-3460-01A-02D-1361-10 TCGA-AK-3460-10A-01D-1361-10 g.chr1:176132093C>A c.674G>T c.(673-675)tGg>tTg p.W225L KIRC 1 176055007 176055007 + Missense_Mutation SNP T T C TCGA-BP-5177-01A-01D-1429-08 TCGA-BP-5177-11A-01D-1429-08 g.chr1:176055007T>C c.1046A>G c.(1045-1047)tAt>tGt p.Y349C KIRC 1 176132093 176132093 + Missense_Mutation SNP C C A TCGA-AK-3460-01A-02D-1361-10 TCGA-AK-3460-10A-01D-1361-10 g.chr1:176132093C>A c.674G>T c.(673-675)tGg>tTg p.W225L KIRP 1 175914297 175914297 + Silent SNP A A G TCGA-BQ-5882-01A-11D-1589-08 TCGA-BQ-5882-11A-01D-1589-08 g.chr1:175914297A>G c.2188T>C c.(2188-2190)Ttg>Ctg p.L730L KIRP 1 175996826 175996826 + Splice_Site SNP T T C TCGA-MH-A561-01A-11D-A26P-10 TCGA-MH-A561-10A-01D-A26P-10 g.chr1:175996826T>C c.e15-2 KIRP 1 176105635 176105635 + Missense_Mutation SNP T T G TCGA-B9-A8YI-01A-21D-A36X-10 TCGA-B9-A8YI-10A-01D-A370-10 g.chr1:176105635T>G c.880A>C c.(880-882)Aag>Cag p.K294Q LGG 1 175957522 175957523 + Frame_Shift_Del DEL CA CA - TCGA-DU-A5TS-01A-11D-A289-08 TCGA-DU-A5TS-10A-01D-A289-08 g.chr1:175957522_175957523delCA c.1873_1874delTG c.(1873-1875)tggfs p.W625fs LGG 1 176105629 176105629 + Missense_Mutation SNP C C T TCGA-DU-6392-01A-11D-1705-08 TCGA-DU-6392-10A-01D-1705-08 g.chr1:176105629C>T c.886G>A c.(886-888)Gtg>Atg p.V296M LGG 1 176132075 176132075 + Missense_Mutation SNP T T C TCGA-DH-5140-01A-01D-1468-08 TCGA-DH-5140-10A-01D-1468-08 g.chr1:176132075T>C c.692A>G c.(691-693)gAt>gGt p.D231G LGG 1 176132079 176132079 + Nonsense_Mutation SNP G G A TCGA-DU-6406-01A-11D-1705-08 TCGA-DU-6406-10A-01D-1705-08 g.chr1:176132079G>A c.688C>T c.(688-690)Caa>Taa p.Q230* LIHC 1 175956209 175956209 + Missense_Mutation SNP T T C TCGA-CC-5258-01A-01D-A12Z-10 TCGA-CC-5258-10A-01D-A12Z-10 g.chr1:175956209T>C c.2003A>G c.(2002-2004)tAt>tGt p.Y668C LIHC 1 175956209 175956209 + Missense_Mutation SNP T T C TCGA-DD-A1EE-01A-11D-A12Z-10 TCGA-DD-A1EE-10A-01D-A12Z-10 g.chr1:175956209T>C c.2003A>G c.(2002-2004)tAt>tGt p.Y668C LIHC 1 175957534 175957534 + Missense_Mutation SNP T T A TCGA-K7-AAU7-01A-11D-A382-10 TCGA-K7-AAU7-10A-01D-A385-10 g.chr1:175957534T>A c.1862A>T c.(1861-1863)cAg>cTg p.Q621L LIHC 1 175958611 175958611 + Missense_Mutation SNP G G C TCGA-2V-A95S-01A-11D-A36X-10 TCGA-2V-A95S-10D-01D-A370-10 g.chr1:175958611G>C c.1734C>G c.(1732-1734)caC>caG p.H578Q LUAD 1 175916343 175916343 + Missense_Mutation SNP C C A TCGA-86-8673-01A-11D-2393-08 TCGA-86-8673-10A-01D-2393-08 g.chr1:175916343C>A c.2166G>T c.(2164-2166)caG>caT p.Q722H LUAD 1 175956124 175956124 + Silent SNP T T A TCGA-38-4631-01A-01D-1753-08 TCGA-38-4631-11A-01D-1753-08 g.chr1:175956124T>A c.2088A>T c.(2086-2088)acA>acT p.T696T LUAD 1 175956158 175956158 + Missense_Mutation SNP C C T TCGA-50-6590-01A-12D-1855-08 TCGA-50-6590-11A-01D-1855-08 g.chr1:175956158C>T c.2054G>A c.(2053-2055)aGt>aAt p.S685N LUAD 1 175956199 175956199 + Silent SNP A A T TCGA-17-Z020-01A-01W-0746-08 TCGA-17-Z020-11A-01W-0746-08 g.chr1:175956199A>T c.2013T>A c.(2011-2013)ctT>ctA p.L671L LUAD 1 175957423 175957423 + Splice_Site SNP C C A TCGA-78-7155-01A-11D-2036-08 TCGA-78-7155-10A-01D-2036-08 g.chr1:175957423C>A c.e17+1 LUAD 1 175957454 175957454 + Silent SNP G G A TCGA-67-3771-01A-01D-1040-01 TCGA-67-3771-10A-01D-1040-01 g.chr1:175957454G>A c.1942C>T c.(1942-1944)Ctg>Ttg p.L648L LUAD 1 175957481 175957481 + Missense_Mutation SNP G G A TCGA-73-4666-01A-01D-1265-08 TCGA-73-4666-11A-01D-1265-08 g.chr1:175957481G>A c.1915C>T c.(1915-1917)Cat>Tat p.H639Y LUAD 1 175996759 175996759 + Missense_Mutation SNP A A G TCGA-55-8506-01A-11D-2393-08 TCGA-55-8506-10A-01D-2393-08 g.chr1:175996759A>G c.1678T>C c.(1678-1680)Tgt>Cgt p.C560R LUAD 1 175996778 175996778 + Missense_Mutation SNP C C A TCGA-95-7039-01A-11D-1945-08 TCGA-95-7039-10A-01D-1946-08 g.chr1:175996778C>A c.1659G>T c.(1657-1659)gaG>gaT p.E553D LUAD 1 176012321 176012321 + Splice_Site SNP C C T TCGA-55-A490-01A-11D-A24D-08 TCGA-55-A490-10A-01D-A24F-08 g.chr1:176012321C>T c.e14+1 LUAD 1 176012383 176012383 + Missense_Mutation SNP C C A TCGA-55-8506-01A-11D-2393-08 TCGA-55-8506-10A-01D-2393-08 g.chr1:176012383C>A c.1551G>T c.(1549-1551)tgG>tgT p.W517C LUAD 1 176015374 176015374 + Missense_Mutation SNP T T G TCGA-NJ-A4YQ-01A-11D-A25L-08 TCGA-NJ-A4YQ-10A-01D-A25L-08 g.chr1:176015374T>G c.1364A>C c.(1363-1365)cAg>cCg p.Q455P LUAD 1 176050385 176050385 + Missense_Mutation SNP C C T TCGA-55-A4DG-01A-11D-A24D-08 TCGA-55-A4DG-10A-01D-A24F-08 g.chr1:176050385C>T c.1180G>A c.(1180-1182)Gaa>Aaa p.E394K LUAD 1 176050403 176050403 + Missense_Mutation SNP G G C TCGA-93-8067-01A-11D-2284-08 TCGA-93-8067-10A-01D-2284-08 g.chr1:176050403G>C c.1162C>G c.(1162-1164)Cag>Gag p.Q388E LUAD 1 176104162 176104162 + Missense_Mutation SNP G G A TCGA-49-6743-01A-11D-1855-08 TCGA-49-6743-11A-01D-1855-08 g.chr1:176104162G>A c.952C>T c.(952-954)Cct>Tct p.P318S LUAD 1 176105681 176105681 + Silent SNP T T C TCGA-05-4410-01A-21D-1855-08 TCGA-05-4410-10A-01D-1855-08 g.chr1:176105681T>C c.834A>G c.(832-834)caA>caG p.Q278Q LUAD 1 176132088 176132088 + Nonsense_Mutation SNP C C A TCGA-86-8585-01A-11D-2393-08 TCGA-86-8585-10A-01D-2393-08 g.chr1:176132088C>A c.679G>T c.(679-681)Gga>Tga p.G227* LUAD 1 176132971 176132971 + Missense_Mutation SNP C C A TCGA-78-8640-01A-11D-2393-08 TCGA-78-8640-11A-01D-2393-08 g.chr1:176132971C>A c.622G>T c.(622-624)Gac>Tac p.D208Y LUAD 1 176132984 176132984 + Missense_Mutation SNP C C A TCGA-86-8073-01A-11D-2238-08 TCGA-86-8073-10A-01D-2238-08 g.chr1:176132984C>A c.609G>T c.(607-609)aaG>aaT p.K203N LUAD 1 176153798 176153798 + Silent SNP T T C TCGA-99-7458-01A-11D-2036-08 TCGA-99-7458-10A-01D-2036-08 g.chr1:176153798T>C c.438A>G c.(436-438)gcA>gcG p.A146A LUAD 1 176153825 176153825 + Silent SNP G G A TCGA-05-5425-01A-02D-1625-08 TCGA-05-5425-10A-01D-1625-08 g.chr1:176153825G>A c.411C>T c.(409-411)ccC>ccT p.P137P LUAD 1 176175712 176175712 + Missense_Mutation SNP C C G TCGA-55-7907-01A-11D-2167-08 TCGA-55-7907-10A-01D-2167-08 g.chr1:176175712C>G c.403G>C c.(403-405)Gta>Cta p.V135L LUSC 1 175916338 175916338 + Missense_Mutation SNP G G A TCGA-46-6025-01A-11D-1817-08 TCGA-46-6025-10A-01D-1817-08 g.chr1:175916338G>A c.2171C>T c.(2170-2172)aCa>aTa p.T724I LUSC 1 175956108 175956108 + Missense_Mutation SNP C C G TCGA-22-4601-01A-01D-1441-08 TCGA-22-4601-11A-01D-1441-08 g.chr1:175956108C>G c.2104G>C c.(2104-2106)Gct>Cct p.A702P LUSC 1 175958605 175958605 + Silent SNP G G C TCGA-66-2754-01A-01D-0983-08 TCGA-66-2754-11A-01D-0983-08 g.chr1:175958605G>C c.1740C>G c.(1738-1740)gtC>gtG p.V580V LUSC 1 176012899 176012899 + Missense_Mutation SNP C C A TCGA-18-3411-01A-01D-0983-08 TCGA-18-3411-11A-01D-0983-08 g.chr1:176012899C>A c.1477G>T c.(1477-1479)Ggc>Tgc p.G493C LUSC 1 176132955 176132955 + Missense_Mutation SNP C C T TCGA-34-5239-01A-21D-1817-08 TCGA-34-5239-10A-01D-1817-08 g.chr1:176132955C>T c.638G>A c.(637-639)aGc>aAc p.S213N LUSC 1 176133017 176133017 + Silent SNP G G T TCGA-18-4086-01A-01D-1352-08 TCGA-18-4086-11A-01D-1352-08 g.chr1:176133017G>T c.576C>A c.(574-576)ctC>ctA p.L192L LUSC 1 176153775 176153775 + Missense_Mutation SNP C C T TCGA-43-3920-01A-01D-0983-08 TCGA-43-3920-10A-01D-0983-08 g.chr1:176153775C>T c.461G>A c.(460-462)aGc>aAc p.S154N OV 1 175956112 175956112 + Silent SNP A A G TCGA-29-2431-01A-01D-1526-09 TCGA-29-2431-10A-01D-1526-09 g.chr1:175956112A>G c.2100T>C c.(2098-2100)gtT>gtC p.V700V OV 1 175958601 175958609 + In_Frame_Del DEL AGTGGACAC AGTGGACAC - TCGA-61-1895-01A-01W-0639-09 TCGA-61-1895-11A-01W-0639-09 g.chr1:175958601_175958609delAGTGGACAC c.1736_1744delGTGTCCACT c.(1735-1746)tgtgtccactac>tac p.CVH579del PAAD 1 176175792 176175792 + Missense_Mutation SNP C C T TCGA-IB-7651-01A-11D-2154-08 TCGA-IB-7651-10A-01D-2154-08 g.chr1:176175792C>T c.323G>A c.(322-324)aGc>aAc p.S108N PRAD 1 175996718 175996718 + Silent SNP G G A TCGA-ZG-A9MC-01A-31D-A41K-08 TCGA-ZG-A9MC-10A-01D-A41N-08 g.chr1:175996718G>A c.1719C>T c.(1717-1719)ttC>ttT p.F573F PRAD 1 176054920 176054920 + Missense_Mutation SNP C C T TCGA-XK-AAIW-01A-11D-A41K-08 TCGA-XK-AAIW-10A-01D-A41N-08 g.chr1:176054920C>T c.1133G>A c.(1132-1134)cGt>cAt p.R378H READ 1 176132982 176132982 + Missense_Mutation SNP C C A TCGA-AG-A002-01A-01W-A00K-09 TCGA-AG-A002-10A-01W-A00K-09 g.chr1:176132982C>A c.611G>T c.(610-612)aGg>aTg p.R204M SKCM 1 175956224 175956224 + Missense_Mutation SNP G G A TCGA-GF-A6C9-06A-11D-A30X-08 TCGA-GF-A6C9-10A-01D-A30X-08 g.chr1:175956224G>A c.1988C>T c.(1987-1989)tCt>tTt p.S663F SKCM 1 175957507 175957507 + Missense_Mutation SNP G G A TCGA-ER-A42L-06A-11D-A24R-08 TCGA-ER-A42L-10A-01D-A24R-08 g.chr1:175957507G>A c.1889C>T c.(1888-1890)cCa>cTa p.P630L SKCM 1 175957522 175957522 + Missense_Mutation SNP C C G TCGA-EE-A185-06A-11D-A196-08 TCGA-EE-A185-10A-01D-A198-08 g.chr1:175957522C>G c.1874G>C c.(1873-1875)tGg>tCg p.W625S SKCM 1 175958589 175958589 + Missense_Mutation SNP G G A TCGA-EE-A2MS-06A-11D-A197-08 TCGA-EE-A2MS-10A-01D-A199-08 g.chr1:175958589G>A c.1756C>T c.(1756-1758)Cgt>Tgt p.R586C SKCM 1 176015319 176015319 + Silent SNP G G A TCGA-D3-A2J8-06A-11D-A196-08 TCGA-D3-A2J8-10A-01D-A198-08 g.chr1:176015319G>A c.1419C>T c.(1417-1419)atC>atT p.I473I SKCM 1 176015348 176015348 + Nonsense_Mutation SNP C C A TCGA-ER-A19P-06A-11D-A196-08 TCGA-ER-A19P-10A-01D-A198-08 g.chr1:176015348C>A c.1390G>T c.(1390-1392)Gag>Tag p.E464* SKCM 1 176050324 176050324 + Missense_Mutation SNP G G A TCGA-D3-A2JA-06A-11D-A196-08 TCGA-D3-A2JA-10A-01D-A198-08 g.chr1:176050324G>A c.1241C>T c.(1240-1242)gCt>gTt p.A414V SKCM 1 176132980 176132980 + Missense_Mutation SNP A A G TCGA-EE-A2GR-06A-11D-A197-08 TCGA-EE-A2GR-10A-01D-A199-08 g.chr1:176132980A>G c.613T>C c.(613-615)Ttc>Ctc p.F205L

Mutation - ICGC Project Code Chromosome Chromosome Start Chromosome End Mutation Type Mutated from Allele Mutated to Allele Consequence Type AA Mutation CDS Mutation BLCA-CN 1 176050387 176050387 single base substitution T A 3_prime_UTR_variant BLCA-CN 1 176050387 176050387 single base substitution T A downstream_gene_variant BLCA-CN 1 176050387 176050387 single base substitution T A exon_variant BLCA-CN 1 176050387 176050387 single base substitution T A missense_variant Q112L 335A>T BLCA-CN 1 176050387 176050387 single base substitution T A missense_variant Q228L 683A>T BLCA-CN 1 176050387 176050387 single base substitution T A missense_variant Q369L 1106A>T BLCA-CN 1 176050387 176050387 single base substitution T A missense_variant Q393L 1178A>T BLCA-US 1 176012859 176012859 single base substitution G A 3_prime_UTR_variant BLCA-US 1 176012859 176012859 single base substitution G A intron_variant BLCA-US 1 176012859 176012859 single base substitution G A missense_variant S225L 674C>T BLCA-US 1 176012859 176012859 single base substitution G A missense_variant S341L 1022C>T BLCA-US 1 176012859 176012859 single base substitution G A missense_variant S482L 1445C>T BLCA-US 1 176012859 176012859 single base substitution G A missense_variant S506L 1517C>T BLCA-US 1 176050418 176050418 single base substitution T C 3_prime_UTR_variant BLCA-US 1 176050418 176050418 single base substitution T C downstream_gene_variant BLCA-US 1 176050418 176050418 single base substitution T C missense_variant S102G 304A>G BLCA-US 1 176050418 176050418 single base substitution T C missense_variant S218G 652A>G BLCA-US 1 176050418 176050418 single base substitution T C missense_variant S359G 1075A>G BLCA-US 1 176050418 176050418 single base substitution T C missense_variant S383G 1147A>G BLCA-US 1 176050418 176050418 single base substitution T C upstream_gene_variant BLCA-US 1 176133011 176133011 single base substitution A G 3_prime_UTR_variant BLCA-US 1 176133011 176133011 single base substitution A G intron_variant BLCA-US 1 176133011 176133011 single base substitution A G synonymous_variant L194L 582T>C BLCA-US 1 176133011 176133011 single base substitution A G synonymous_variant L49L 147T>C BLCA-US 1 176133011 176133011 single base substitution A G synonymous_variant L53L 159T>C BOCA-FR 1 175956470 175956470 single base substitution T G intron_variant BRCA-EU 1 175911129 175911129 single base substitution C G downstream_gene_variant BRCA-EU 1 175912219 175912219 single base substitution C T downstream_gene_variant BRCA-EU 1 175913592 175913592 single base substitution C G downstream_gene_variant BRCA-EU 1 175915364 175915364 single base substitution C T intron_variant BRCA-EU 1 175915547 175915547 single base substitution C G intron_variant BRCA-EU 1 175916993 175916994 deletion of <=200bp AA - intron_variant BRCA-EU 1 175916993 175916994 deletion of <=200bp AA - upstream_gene_variant BRCA-EU 1 175917764 175917764 single base substitution C G intron_variant BRCA-EU 1 175917764 175917764 single base substitution C G upstream_gene_variant BRCA-EU 1 175919323 175919323 single base substitution G A intron_variant BRCA-EU 1 175919323 175919323 single base substitution G A upstream_gene_variant BRCA-EU 1 175919994 175919994 single base substitution T C intron_variant BRCA-EU 1 175919994 175919994 single base substitution T C upstream_gene_variant BRCA-EU 1 175920193 175920193 single base substitution C G intron_variant BRCA-EU 1 175920193 175920193 single base substitution C G upstream_gene_variant BRCA-EU 1 175921904 175921904 single base substitution C T intron_variant BRCA-EU 1 175922620 175922620 single base substitution G A intron_variant BRCA-EU 1 175923806 175923806 single base substitution A C intron_variant BRCA-EU 1 175924019 175924019 single base substitution T G intron_variant BRCA-EU 1 175924095 175924095 single base substitution G A intron_variant BRCA-EU 1 175924553 175924553 single base substitution C A intron_variant BRCA-EU 1 175924967 175924967 single base substitution G A intron_variant BRCA-EU 1 175925070 175925070 single base substitution T C intron_variant BRCA-EU 1 175926900 175926900 single base substitution C T intron_variant BRCA-EU 1 175928108 175928108 single base substitution A T intron_variant BRCA-EU 1 175928414 175928414 single base substitution C A intron_variant BRCA-EU 1 175928777 175928777 single base substitution C T intron_variant BRCA-EU 1 175928924 175928924 single base substitution C T intron_variant BRCA-EU 1 175930911 175930911 single base substitution A G intron_variant BRCA-EU 1 175931895 175931895 single base substitution T C intron_variant BRCA-EU 1 175931949 175931949 single base substitution C T intron_variant BRCA-EU 1 175932000 175932000 deletion of <=200bp A - intron_variant BRCA-EU 1 175932508 175932508 single base substitution T C intron_variant BRCA-EU 1 175933050 175933050 single base substitution C T intron_variant BRCA-EU 1 175933350 175933350 single base substitution C T intron_variant BRCA-EU 1 175934469 175934469 single base substitution A G intron_variant BRCA-EU 1 175935822 175935822 single base substitution G C intron_variant BRCA-EU 1 175936207 175936207 single base substitution G C intron_variant BRCA-EU 1 175936558 175936558 single base substitution G C intron_variant BRCA-EU 1 175936699 175936699 single base substitution G A intron_variant BRCA-EU 1 175939047 175939047 single base substitution C T intron_variant BRCA-EU 1 175940364 175940364 deletion of <=200bp T - intron_variant BRCA-EU 1 175940671 175940671 single base substitution C T intron_variant BRCA-EU 1 175941340 175941340 single base substitution A G intron_variant BRCA-EU 1 175943782 175943782 single base substitution G A intron_variant BRCA-EU 1 175944843 175944843 single base substitution C G intron_variant BRCA-EU 1 175946396 175946396 single base substitution T C intron_variant BRCA-EU 1 175947342 175947342 single base substitution T C intron_variant BRCA-EU 1 175948069 175948069 single base substitution C A intron_variant BRCA-EU 1 175949369 175949369 single base substitution C T intron_variant BRCA-EU 1 175949427 175949427 single base substitution C T intron_variant BRCA-EU 1 175949942 175949942 insertion of <=200bp - T intron_variant BRCA-EU 1 175950290 175950290 single base substitution C G intron_variant BRCA-EU 1 175950744 175950744 single base substitution A T intron_variant BRCA-EU 1 175951076 175951076 deletion of <=200bp C - intron_variant BRCA-EU 1 175953308 175953308 single base substitution C G intron_variant BRCA-EU 1 175954513 175954513 insertion of <=200bp - T intron_variant BRCA-EU 1 175954872 175954872 single base substitution T A intron_variant BRCA-EU 1 175955577 175955577 single base substitution T G intron_variant BRCA-EU 1 175955984 175955984 single base substitution C G intron_variant BRCA-EU 1 175957716 175957716 single base substitution C T exon_variant BRCA-EU 1 175957716 175957716 single base substitution C T intron_variant BRCA-EU 1 175958279 175958279 single base substitution C T exon_variant BRCA-EU 1 175958279 175958279 single base substitution C T intron_variant BRCA-EU 1 175960067 175960067 single base substitution C G intron_variant BRCA-EU 1 175960220 175960220 single base substitution C G intron_variant BRCA-EU 1 175960312 175960312 single base substitution C T intron_variant BRCA-EU 1 175961673 175961673 single base substitution C A intron_variant BRCA-EU 1 175962324 175962324 single base substitution C G intron_variant BRCA-EU 1 175962627 175962627 single base substitution T G intron_variant BRCA-EU 1 175963320 175963320 single base substitution A G intron_variant BRCA-EU 1 175963481 175963481 single base substitution A G intron_variant BRCA-EU 1 175964213 175964213 single base substitution C G intron_variant BRCA-EU 1 175964486 175964486 single base substitution C G intron_variant BRCA-EU 1 175965168 175965168 single base substitution C G intron_variant BRCA-EU 1 175966709 175966709 single base substitution G C intron_variant BRCA-EU 1 175966744 175966744 single base substitution C G intron_variant BRCA-EU 1 175966795 175966795 single base substitution C T intron_variant BRCA-EU 1 175967766 175967766 single base substitution C T intron_variant BRCA-EU 1 175968675 175968675 single base substitution C G intron_variant BRCA-EU 1 175969496 175969496 single base substitution T A intron_variant BRCA-EU 1 175969771 175969771 single base substitution T A intron_variant BRCA-EU 1 175970678 175970678 single base substitution G C intron_variant BRCA-EU 1 175970958 175970958 single base substitution C T intron_variant BRCA-EU 1 175971268 175971268 single base substitution C G intron_variant BRCA-EU 1 175974461 175974461 single base substitution G T intron_variant BRCA-EU 1 175974529 175974529 single base substitution G C intron_variant BRCA-EU 1 175974905 175974905 single base substitution C G intron_variant BRCA-EU 1 175975904 175975904 single base substitution G A intron_variant BRCA-EU 1 175976018 175976018 single base substitution C T intron_variant BRCA-EU 1 175976402 175976402 single base substitution C T intron_variant BRCA-EU 1 175976891 175976891 single base substitution G A intron_variant BRCA-EU 1 175977720 175977720 single base substitution A G intron_variant BRCA-EU 1 175978864 175978864 single base substitution G C intron_variant BRCA-EU 1 175979570 175979570 single base substitution C G intron_variant BRCA-EU 1 175979808 175979808 single base substitution C G intron_variant BRCA-EU 1 175980235 175980235 single base substitution A G intron_variant BRCA-EU 1 175980462 175980462 single base substitution G C intron_variant BRCA-EU 1 175980822 175980825 deletion of <=200bp ATTT - intron_variant BRCA-EU 1 175980930 175980930 insertion of <=200bp - C intron_variant BRCA-EU 1 175981449 175981449 single base substitution C G intron_variant BRCA-EU 1 175981807 175981807 single base substitution T A intron_variant BRCA-EU 1 175981864 175981864 single base substitution G A intron_variant BRCA-EU 1 175982363 175982363 single base substitution G T intron_variant BRCA-EU 1 175982441 175982441 single base substitution G A intron_variant BRCA-EU 1 175984367 175984367 single base substitution T A intron_variant BRCA-EU 1 175985172 175985172 single base substitution A G intron_variant BRCA-EU 1 175985286 175985286 deletion of <=200bp T - intron_variant BRCA-EU 1 175985787 175985787 single base substitution C G intron_variant BRCA-EU 1 175985877 175985877 single base substitution A T intron_variant BRCA-EU 1 175985923 175985923 single base substitution G A intron_variant BRCA-EU 1 175986436 175986436 single base substitution T C intron_variant BRCA-EU 1 175986580 175986580 single base substitution C T intron_variant BRCA-EU 1 175987199 175987199 single base substitution T G intron_variant BRCA-EU 1 175988099 175988099 single base substitution C G intron_variant BRCA-EU 1 175989524 175989524 deletion of <=200bp A - intron_variant BRCA-EU 1 175989810 175989810 single base substitution C G intron_variant BRCA-EU 1 175990350 175990350 deletion of <=200bp T - intron_variant BRCA-EU 1 175992572 175992572 single base substitution A G intron_variant BRCA-EU 1 175993308 175993308 single base substitution T C intron_variant BRCA-EU 1 175994033 175994033 single base substitution G A intron_variant BRCA-EU 1 175994682 175994682 single base substitution G A intron_variant BRCA-EU 1 175994980 175994980 single base substitution C T intron_variant BRCA-EU 1 175995032 175995032 deletion of <=200bp A - intron_variant BRCA-EU 1 175995032 175995032 single base substitution A C intron_variant BRCA-EU 1 175995861 175995861 single base substitution T A intron_variant BRCA-EU 1 175995902 175995903 deletion of <=200bp TT - intron_variant BRCA-EU 1 175996025 175996025 single base substitution T C intron_variant BRCA-EU 1 175996136 175996136 single base substitution G A intron_variant BRCA-EU 1 175996392 175996392 single base substitution T A intron_variant BRCA-EU 1 175997992 175997992 single base substitution C G intron_variant BRCA-EU 1 175998003 175998003 single base substitution C T intron_variant BRCA-EU 1 175998044 175998044 single base substitution C A intron_variant BRCA-EU 1 175998293 175998293 single base substitution T G intron_variant BRCA-EU 1 175999114 175999114 single base substitution C T intron_variant BRCA-EU 1 175999457 175999457 single base substitution T A intron_variant BRCA-EU 1 176000372 176000372 single base substitution T C intron_variant BRCA-EU 1 176002050 176002050 single base substitution A G intron_variant BRCA-EU 1 176003915 176003915 single base substitution T C intron_variant BRCA-EU 1 176006264 176006264 single base substitution C G intron_variant BRCA-EU 1 176007968 176007968 deletion of <=200bp G - downstream_gene_variant BRCA-EU 1 176007968 176007968 deletion of <=200bp G - intron_variant BRCA-EU 1 176009615 176009615 single base substitution G A downstream_gene_variant BRCA-EU 1 176009615 176009615 single base substitution G A intron_variant BRCA-EU 1 176010259 176010259 single base substitution G C downstream_gene_variant BRCA-EU 1 176010259 176010259 single base substitution G C intron_variant BRCA-EU 1 176012868 176012868 single base substitution C A 3_prime_UTR_variant BRCA-EU 1 176012868 176012868 single base substitution C A intron_variant BRCA-EU 1 176012868 176012868 single base substitution C A missense_variant G222V 665G>T BRCA-EU 1 176012868 176012868 single base substitution C A missense_variant G338V 1013G>T BRCA-EU 1 176012868 176012868 single base substitution C A missense_variant G479V 1436G>T BRCA-EU 1 176012868 176012868 single base substitution C A missense_variant G503V 1508G>T BRCA-EU 1 176013473 176013473 single base substitution A G intron_variant BRCA-EU 1 176016294 176016294 single base substitution C T intron_variant BRCA-EU 1 176017047 176017047 deletion of <=200bp A - intron_variant BRCA-EU 1 176018225 176018225 single base substitution G A intron_variant BRCA-EU 1 176018384 176018384 single base substitution G C intron_variant BRCA-EU 1 176018633 176018633 single base substitution A G intron_variant BRCA-EU 1 176019302 176019302 single base substitution G A intron_variant BRCA-EU 1 176020026 176020026 single base substitution C G intron_variant BRCA-EU 1 176020718 176020718 insertion of <=200bp - A intron_variant BRCA-EU 1 176021310 176021310 single base substitution G A intron_variant BRCA-EU 1 176021818 176021818 single base substitution C T intron_variant BRCA-EU 1 176021847 176021847 single base substitution C G intron_variant BRCA-EU 1 176022076 176022076 single base substitution C A intron_variant BRCA-EU 1 176022105 176022105 single base substitution C A intron_variant BRCA-EU 1 176023061 176023061 single base substitution C G intron_variant BRCA-EU 1 176026384 176026384 single base substitution G A intron_variant BRCA-EU 1 176026615 176026615 single base substitution C T intron_variant BRCA-EU 1 176027090 176027090 single base substitution C T intron_variant BRCA-EU 1 176027164 176027164 single base substitution C T intron_variant BRCA-EU 1 176027814 176027814 single base substitution C T intron_variant BRCA-EU 1 176028201 176028201 single base substitution G T intron_variant BRCA-EU 1 176028631 176028631 single base substitution T C intron_variant BRCA-EU 1 176028735 176028735 single base substitution C T intron_variant BRCA-EU 1 176028932 176028932 single base substitution C A intron_variant BRCA-EU 1 176030035 176030035 single base substitution G C intron_variant BRCA-EU 1 176030532 176030532 single base substitution G T intron_variant BRCA-EU 1 176030710 176030710 single base substitution C T intron_variant BRCA-EU 1 176031607 176031607 single base substitution A T intron_variant BRCA-EU 1 176032090 176032090 single base substitution G T intron_variant BRCA-EU 1 176033910 176033910 single base substitution C A intron_variant BRCA-EU 1 176034063 176034063 single base substitution T G intron_variant BRCA-EU 1 176034600 176034600 single base substitution G C intron_variant BRCA-EU 1 176035687 176035687 single base substitution C G intron_variant BRCA-EU 1 176035944 176035944 single base substitution C A intron_variant BRCA-EU 1 176039417 176039417 single base substitution C A intron_variant BRCA-EU 1 176039631 176039631 single base substitution C G intron_variant BRCA-EU 1 176039919 176039919 single base substitution G A intron_variant BRCA-EU 1 176039978 176039978 single base substitution G T intron_variant BRCA-EU 1 176041459 176041459 single base substitution C T intron_variant BRCA-EU 1 176043432 176043432 single base substitution T C intron_variant BRCA-EU 1 176044251 176044251 single base substitution C T intron_variant BRCA-EU 1 176045168 176045168 single base substitution G T intron_variant BRCA-EU 1 176046157 176046157 single base substitution C T intron_variant BRCA-EU 1 176046769 176046769 single base substitution T C intron_variant BRCA-EU 1 176046882 176046882 single base substitution G A intron_variant BRCA-EU 1 176047139 176047139 single base substitution A G intron_variant BRCA-EU 1 176047352 176047352 single base substitution G A intron_variant BRCA-EU 1 176047367 176047367 single base substitution C A intron_variant BRCA-EU 1 176047861 176047861 insertion of <=200bp - A intron_variant BRCA-EU 1 176047864 176047864 single base substitution G C intron_variant BRCA-EU 1 176050845 176050845 single base substitution C A downstream_gene_variant BRCA-EU 1 176050845 176050845 single base substitution C A intron_variant BRCA-EU 1 176050845 176050845 single base substitution C A upstream_gene_variant BRCA-EU 1 176051421 176051421 insertion of <=200bp - AC downstream_gene_variant BRCA-EU 1 176051421 176051421 insertion of <=200bp - AC intron_variant BRCA-EU 1 176051421 176051421 insertion of <=200bp - AC upstream_gene_variant BRCA-EU 1 176052863 176052863 single base substitution A G downstream_gene_variant BRCA-EU 1 176052863 176052863 single base substitution A G intron_variant BRCA-EU 1 176052863 176052863 single base substitution A G upstream_gene_variant BRCA-EU 1 176053852 176053852 insertion of <=200bp - T downstream_gene_variant BRCA-EU 1 176053852 176053852 insertion of <=200bp - T intron_variant BRCA-EU 1 176053852 176053852 insertion of <=200bp - T upstream_gene_variant BRCA-EU 1 176054824 176054824 single base substitution T A downstream_gene_variant BRCA-EU 1 176054824 176054824 single base substitution T A intron_variant BRCA-EU 1 176054824 176054824 single base substitution T A upstream_gene_variant BRCA-EU 1 176055823 176055823 single base substitution A C intron_variant BRCA-EU 1 176056517 176056517 single base substitution G C intron_variant BRCA-EU 1 176056555 176056555 single base substitution T A intron_variant BRCA-EU 1 176057191 176057191 single base substitution G A intron_variant BRCA-EU 1 176057815 176057815 single base substitution C A intron_variant BRCA-EU 1 176058075 176058075 single base substitution G A intron_variant BRCA-EU 1 176058262 176058262 single base substitution C G intron_variant BRCA-EU 1 176059875 176059875 single base substitution T A intron_variant BRCA-EU 1 176060448 176060448 single base substitution C G intron_variant BRCA-EU 1 176061524 176061524 single base substitution C T intron_variant BRCA-EU 1 176062771 176062771 single base substitution C G intron_variant BRCA-EU 1 176063912 176063912 single base substitution C T intron_variant BRCA-EU 1 176064869 176064869 single base substitution G C intron_variant BRCA-EU 1 176065405 176065405 deletion of <=200bp T - intron_variant BRCA-EU 1 176066125 176066125 single base substitution C A intron_variant BRCA-EU 1 176066364 176066364 deletion of <=200bp A - intron_variant BRCA-EU 1 176066364 176066364 insertion of <=200bp - A intron_variant BRCA-EU 1 176067514 176067514 single base substitution G C intron_variant BRCA-EU 1 176067598 176067598 single base substitution C T intron_variant BRCA-EU 1 176068406 176068406 single base substitution G C intron_variant BRCA-EU 1 176068728 176068728 single base substitution G A intron_variant BRCA-EU 1 176070070 176070070 single base substitution C T intron_variant BRCA-EU 1 176070410 176070410 single base substitution C G intron_variant BRCA-EU 1 176070584 176070584 single base substitution T C intron_variant BRCA-EU 1 176070987 176070987 single base substitution T G intron_variant BRCA-EU 1 176072636 176072636 single base substitution C T intron_variant BRCA-EU 1 176074166 176074166 insertion of <=200bp - A intron_variant BRCA-EU 1 176074472 176074472 single base substitution C T intron_variant BRCA-EU 1 176075511 176075511 single base substitution C T intron_variant BRCA-EU 1 176075586 176075586 single base substitution A T intron_variant BRCA-EU 1 176076756 176076756 single base substitution A G intron_variant BRCA-EU 1 176077644 176077644 single base substitution C G intron_variant BRCA-EU 1 176078337 176078337 single base substitution C A intron_variant BRCA-EU 1 176078470 176078470 single base substitution T G intron_variant BRCA-EU 1 176078970 176078970 deletion of <=200bp T - intron_variant BRCA-EU 1 176079956 176079956 single base substitution C A intron_variant BRCA-EU 1 176080808 176080808 single base substitution A G downstream_gene_variant BRCA-EU 1 176080808 176080808 single base substitution A G intron_variant BRCA-EU 1 176081909 176081909 deletion of <=200bp T - downstream_gene_variant BRCA-EU 1 176081909 176081909 deletion of <=200bp T - intron_variant BRCA-EU 1 176082223 176082223 single base substitution A T downstream_gene_variant BRCA-EU 1 176082223 176082223 single base substitution A T intron_variant BRCA-EU 1 176082666 176082666 single base substitution G A downstream_gene_variant BRCA-EU 1 176082666 176082666 single base substitution G A intron_variant BRCA-EU 1 176083715 176083715 deletion of <=200bp T - downstream_gene_variant BRCA-EU 1 176083715 176083715 deletion of <=200bp T - intron_variant BRCA-EU 1 176083792 176083792 single base substitution C A downstream_gene_variant BRCA-EU 1 176083792 176083792 single base substitution C A intron_variant BRCA-EU 1 176084334 176084334 single base substitution C G downstream_gene_variant BRCA-EU 1 176084334 176084334 single base substitution C G intron_variant BRCA-EU 1 176084973 176084973 single base substitution C A downstream_gene_variant BRCA-EU 1 176084973 176084973 single base substitution C A intron_variant BRCA-EU 1 176086540 176086540 single base substitution C A intron_variant BRCA-EU 1 176088262 176088262 single base substitution G C intron_variant BRCA-EU 1 176088750 176088750 single base substitution C G intron_variant BRCA-EU 1 176089571 176089571 single base substitution A T intron_variant BRCA-EU 1 176090670 176090670 single base substitution G A intron_variant BRCA-EU 1 176090935 176090935 single base substitution G A intron_variant BRCA-EU 1 176091357 176091357 single base substitution G C intron_variant BRCA-EU 1 176092417 176092417 single base substitution G T intron_variant BRCA-EU 1 176092487 176092487 single base substitution T G intron_variant BRCA-EU 1 176092912 176092912 insertion of <=200bp - AAT intron_variant BRCA-EU 1 176093367 176093367 single base substitution T C intron_variant BRCA-EU 1 176094109 176094111 deletion of <=200bp GAT - intron_variant BRCA-EU 1 176094613 176094613 single base substitution G C intron_variant BRCA-EU 1 176094754 176094754 single base substitution T G intron_variant BRCA-EU 1 176094875 176094875 deletion of <=200bp T - intron_variant BRCA-EU 1 176095482 176095482 single base substitution G A intron_variant BRCA-EU 1 176095603 176095603 deletion of <=200bp T - intron_variant BRCA-EU 1 176095760 176095760 single base substitution C T intron_variant BRCA-EU 1 176096200 176096200 single base substitution G A intron_variant BRCA-EU 1 176096756 176096756 single base substitution T G intron_variant BRCA-EU 1 176097482 176097482 single base substitution C A intron_variant BRCA-EU 1 176098211 176098211 single base substitution C T intron_variant BRCA-EU 1 176099281 176099281 single base substitution T A downstream_gene_variant BRCA-EU 1 176099281 176099281 single base substitution T A intron_variant BRCA-EU 1 176099367 176099367 single base substitution A G downstream_gene_variant BRCA-EU 1 176099367 176099367 single base substitution A G intron_variant BRCA-EU 1 176099443 176099443 single base substitution G T downstream_gene_variant BRCA-EU 1 176099443 176099443 single base substitution G T intron_variant BRCA-EU 1 176100322 176100322 single base substitution A G downstream_gene_variant BRCA-EU 1 176100322 176100322 single base substitution A G intron_variant BRCA-EU 1 176101580 176101580 single base substitution A G downstream_gene_variant BRCA-EU 1 176101580 176101580 single base substitution A G intron_variant BRCA-EU 1 176101623 176101623 single base substitution A G downstream_gene_variant BRCA-EU 1 176101623 176101623 single base substitution A G intron_variant BRCA-EU 1 176103251 176103251 single base substitution G A downstream_gene_variant BRCA-EU 1 176103251 176103251 single base substitution G A intron_variant BRCA-EU 1 176103426 176103426 single base substitution G A downstream_gene_variant BRCA-EU 1 176103426 176103426 single base substitution G A intron_variant BRCA-EU 1 176103558 176103558 single base substitution C A downstream_gene_variant BRCA-EU 1 176103558 176103558 single base substitution C A intron_variant BRCA-EU 1 176103894 176103894 single base substitution T A downstream_gene_variant BRCA-EU 1 176103894 176103894 single base substitution T A intron_variant BRCA-EU 1 176104591 176104591 single base substitution G T intron_variant BRCA-EU 1 176104591 176104591 single base substitution G T upstream_gene_variant BRCA-EU 1 176104978 176104978 single base substitution T C intron_variant BRCA-EU 1 176104978 176104978 single base substitution T C upstream_gene_variant BRCA-EU 1 176106004 176106004 single base substitution C G intron_variant BRCA-EU 1 176106004 176106004 single base substitution C G upstream_gene_variant BRCA-EU 1 176106167 176106167 single base substitution A G intron_variant BRCA-EU 1 176106167 176106167 single base substitution A G upstream_gene_variant BRCA-EU 1 176106362 176106362 single base substitution A C intron_variant BRCA-EU 1 176106362 176106362 single base substitution A C upstream_gene_variant BRCA-EU 1 176108675 176108675 single base substitution C T intron_variant BRCA-EU 1 176108675 176108675 single base substitution C T upstream_gene_variant BRCA-EU 1 176109504 176109504 single base substitution C A intron_variant BRCA-EU 1 176109533 176109533 single base substitution A C intron_variant BRCA-EU 1 176110540 176110540 single base substitution G T intron_variant BRCA-EU 1 176112203 176112203 single base substitution G C intron_variant BRCA-EU 1 176112390 176112390 single base substitution T A intron_variant BRCA-EU 1 176113697 176113697 single base substitution C T intron_variant BRCA-EU 1 176114215 176114215 single base substitution C A intron_variant BRCA-EU 1 176114736 176114736 single base substitution C G intron_variant BRCA-EU 1 176115173 176115187 deletion of <=200bp TAAAATTCAATTCAC - intron_variant BRCA-EU 1 176116511 176116511 single base substitution C G intron_variant BRCA-EU 1 176116652 176116652 single base substitution A G intron_variant BRCA-EU 1 176116729 176116729 deletion of <=200bp A - intron_variant BRCA-EU 1 176117056 176117056 single base substitution G A intron_variant BRCA-EU 1 176117141 176117141 single base substitution C A intron_variant BRCA-EU 1 176119574 176119574 single base substitution G C intron_variant BRCA-EU 1 176119626 176119626 single base substitution G A intron_variant BRCA-EU 1 176123189 176123189 deletion of <=200bp T - intron_variant BRCA-EU 1 176124618 176124618 single base substitution C T intron_variant BRCA-EU 1 176125668 176125668 single base substitution A T intron_variant BRCA-EU 1 176125795 176125795 single base substitution G A intron_variant BRCA-EU 1 176125945 176125945 insertion of <=200bp - A intron_variant BRCA-EU 1 176127233 176127233 single base substitution A G intron_variant BRCA-EU 1 176127581 176127581 single base substitution G C intron_variant BRCA-EU 1 176128056 176128056 single base substitution C T intron_variant BRCA-EU 1 176129244 176129244 single base substitution A T intron_variant BRCA-EU 1 176129712 176129712 insertion of <=200bp - A intron_variant BRCA-EU 1 176130534 176130534 single base substitution A G intron_variant BRCA-EU 1 176131100 176131100 insertion of <=200bp - T intron_variant BRCA-EU 1 176132661 176132661 single base substitution T C intron_variant BRCA-EU 1 176133332 176133332 single base substitution G C intron_variant BRCA-EU 1 176134532 176134532 insertion of <=200bp - GG intron_variant BRCA-EU 1 176135857 176135857 single base substitution G C intron_variant BRCA-EU 1 176136790 176136790 deletion of <=200bp A - intron_variant BRCA-EU 1 176137638 176137638 single base substitution A G intron_variant BRCA-EU 1 176137643 176137643 insertion of <=200bp - AGGGAGGGAGGAAGGGAGGAAGGCAGGAAGGGAGGGAAGAAGGA intron_variant BRCA-EU 1 176139137 176139137 single base substitution C G intron_variant BRCA-EU 1 176139242 176139242 single base substitution T A intron_variant BRCA-EU 1 176140486 176140486 single base substitution C A intron_variant BRCA-EU 1 176141031 176141031 single base substitution G C intron_variant BRCA-EU 1 176141883 176141883 insertion of <=200bp - A intron_variant BRCA-EU 1 176141920 176141920 single base substitution G C intron_variant BRCA-EU 1 176143437 176143437 single base substitution C G intron_variant BRCA-EU 1 176143473 176143473 single base substitution G A intron_variant BRCA-EU 1 176143522 176143522 single base substitution C A intron_variant BRCA-EU 1 176144976 176144976 single base substitution T C intron_variant BRCA-EU 1 176145084 176145084 single base substitution A G exon_variant BRCA-EU 1 176145084 176145084 single base substitution A G intron_variant BRCA-EU 1 176145084 176145084 single base substitution A G missense_variant V176A 527T>C BRCA-EU 1 176145084 176145084 single base substitution A G missense_variant V31A 92T>C BRCA-EU 1 176145084 176145084 single base substitution A G missense_variant V35A 104T>C BRCA-EU 1 176145160 176145160 deletion of <=200bp A - intron_variant BRCA-EU 1 176145551 176145551 single base substitution C T intron_variant BRCA-EU 1 176146414 176146414 insertion of <=200bp - A intron_variant BRCA-EU 1 176146473 176146473 single base substitution A C intron_variant BRCA-EU 1 176146822 176146822 single base substitution C T intron_variant BRCA-EU 1 176147034 176147034 single base substitution A G intron_variant BRCA-EU 1 176147132 176147132 single base substitution G T intron_variant BRCA-EU 1 176148055 176148055 single base substitution C T intron_variant BRCA-EU 1 176148888 176148888 single base substitution T A intron_variant BRCA-EU 1 176150495 176150495 single base substitution G A intron_variant BRCA-EU 1 176152887 176152887 single base substitution C A intron_variant BRCA-EU 1 176154339 176154339 single base substitution T C intron_variant BRCA-EU 1 176154339 176154339 single base substitution T C upstream_gene_variant BRCA-EU 1 176154407 176154407 single base substitution A G intron_variant BRCA-EU 1 176154407 176154407 single base substitution A G upstream_gene_variant BRCA-EU 1 176155405 176155405 single base substitution C T intron_variant BRCA-EU 1 176155405 176155405 single base substitution C T upstream_gene_variant BRCA-EU 1 176155491 176155491 single base substitution A T intron_variant BRCA-EU 1 176155491 176155491 single base substitution A T upstream_gene_variant BRCA-EU 1 176156104 176156104 single base substitution T G intron_variant BRCA-EU 1 176156104 176156104 single base substitution T G upstream_gene_variant BRCA-EU 1 176156382 176156382 single base substitution C G intron_variant BRCA-EU 1 176156382 176156382 single base substitution C G upstream_gene_variant BRCA-EU 1 176156428 176156429 deletion of <=200bp AT - intron_variant BRCA-EU 1 176156428 176156429 deletion of <=200bp AT - upstream_gene_variant BRCA-EU 1 176157613 176157613 single base substitution C T intron_variant BRCA-EU 1 176157613 176157613 single base substitution C T upstream_gene_variant BRCA-EU 1 176157798 176157798 single base substitution C T intron_variant BRCA-EU 1 176157798 176157798 single base substitution C T upstream_gene_variant BRCA-EU 1 176158638 176158638 single base substitution C A intron_variant BRCA-EU 1 176158638 176158638 single base substitution C A upstream_gene_variant BRCA-EU 1 176158855 176158855 single base substitution G T intron_variant BRCA-EU 1 176158952 176158952 single base substitution A T intron_variant BRCA-EU 1 176160705 176160705 single base substitution A G intron_variant BRCA-EU 1 176161180 176161180 single base substitution A C intron_variant BRCA-EU 1 176161563 176161563 single base substitution G C intron_variant BRCA-EU 1 176162222 176162222 single base substitution T C intron_variant BRCA-EU 1 176162772 176162772 single base substitution G A intron_variant BRCA-EU 1 176163657 176163657 single base substitution C T intron_variant BRCA-EU 1 176164281 176164281 single base substitution G A intron_variant BRCA-EU 1 176164437 176164437 single base substitution T G intron_variant BRCA-EU 1 176164688 176164688 single base substitution G C intron_variant BRCA-EU 1 176167345 176167345 single base substitution A G intron_variant BRCA-EU 1 176167353 176167353 single base substitution A C intron_variant BRCA-EU 1 176167424 176167424 single base substitution A G intron_variant BRCA-EU 1 176168599 176168599 single base substitution G A intron_variant BRCA-EU 1 176169426 176169426 single base substitution C T intron_variant BRCA-EU 1 176170127 176170127 deletion of <=200bp A - intron_variant BRCA-EU 1 176171214 176171214 insertion of <=200bp - A intron_variant BRCA-EU 1 176172269 176172269 single base substitution C T intron_variant BRCA-EU 1 176172473 176172473 deletion of <=200bp A - intron_variant BRCA-EU 1 176173223 176173223 single base substitution C G intron_variant BRCA-EU 1 176173589 176173589 deletion of <=200bp A - intron_variant BRCA-EU 1 176173608 176173608 single base substitution A C intron_variant BRCA-EU 1 176173811 176173811 single base substitution G A intron_variant BRCA-EU 1 176173969 176173969 single base substitution C T intron_variant BRCA-EU 1 176174811 176174811 single base substitution A T intron_variant BRCA-EU 1 176174965 176174965 single base substitution T C intron_variant BRCA-EU 1 176175650 176175650 single base substitution G A intron_variant BRCA-EU 1 176175650 176175650 single base substitution G A upstream_gene_variant BRCA-EU 1 176176790 176176790 single base substitution G A upstream_gene_variant BRCA-EU 1 176176849 176176849 single base substitution A T upstream_gene_variant BRCA-EU 1 176177043 176177043 single base substitution G C upstream_gene_variant BRCA-EU 1 176177597 176177597 single base substitution A T upstream_gene_variant BRCA-EU 1 176177792 176177792 single base substitution A G upstream_gene_variant BRCA-EU 1 176177853 176177853 single base substitution G A upstream_gene_variant BRCA-EU 1 176177920 176177920 single base substitution G C upstream_gene_variant BRCA-EU 1 176178390 176178390 single base substitution C T upstream_gene_variant BRCA-EU 1 176178947 176178947 single base substitution G C upstream_gene_variant BRCA-EU 1 176179157 176179157 single base substitution C G upstream_gene_variant BRCA-EU 1 176179367 176179367 single base substitution C G upstream_gene_variant BRCA-EU 1 176179919 176179919 single base substitution C A upstream_gene_variant BRCA-EU 1 176180265 176180265 single base substitution A T upstream_gene_variant BRCA-EU 1 176181278 176181278 single base substitution T A upstream_gene_variant BRCA-FR 1 175911311 175911311 single base substitution C A downstream_gene_variant BRCA-FR 1 175914373 175914373 single base substitution C G intron_variant BRCA-FR 1 175921332 175921332 single base substitution C T intron_variant BRCA-FR 1 175921332 175921332 single base substitution C T upstream_gene_variant BRCA-FR 1 175928414 175928414 single base substitution C A intron_variant BRCA-FR 1 175931756 175931756 single base substitution C G intron_variant BRCA-FR 1 175933050 175933050 single base substitution C T intron_variant BRCA-FR 1 175941340 175941340 single base substitution A G intron_variant BRCA-FR 1 175951774 175951774 single base substitution A C intron_variant BRCA-FR 1 175959769 175959769 single base substitution T C intron_variant BRCA-FR 1 175966744 175966744 single base substitution C G intron_variant BRCA-FR 1 175966795 175966795 single base substitution C T intron_variant BRCA-FR 1 175968675 175968675 single base substitution C G intron_variant BRCA-FR 1 175979657 175979657 single base substitution A G intron_variant BRCA-FR 1 175982363 175982363 single base substitution G T intron_variant BRCA-FR 1 175985787 175985787 single base substitution C G intron_variant BRCA-FR 1 175988732 175988732 single base substitution C G intron_variant BRCA-FR 1 175994033 175994033 single base substitution G A intron_variant BRCA-FR 1 175997992 175997992 single base substitution C G intron_variant BRCA-FR 1 175998003 175998003 single base substitution C T intron_variant BRCA-FR 1 176002050 176002050 single base substitution A G intron_variant BRCA-FR 1 176017265 176017265 single base substitution G A intron_variant BRCA-FR 1 176020026 176020026 single base substitution C G intron_variant BRCA-FR 1 176035687 176035687 single base substitution C G intron_variant BRCA-FR 1 176046769 176046769 single base substitution T C intron_variant BRCA-FR 1 176046882 176046882 single base substitution G A intron_variant BRCA-FR 1 176047352 176047352 single base substitution G A intron_variant BRCA-FR 1 176059875 176059875 single base substitution T A intron_variant BRCA-FR 1 176071873 176071873 single base substitution C T intron_variant BRCA-FR 1 176072636 176072636 single base substitution C T intron_variant BRCA-FR 1 176075511 176075511 single base substitution C T intron_variant BRCA-FR 1 176083792 176083792 single base substitution C A downstream_gene_variant BRCA-FR 1 176083792 176083792 single base substitution C A intron_variant BRCA-FR 1 176099443 176099443 single base substitution G T downstream_gene_variant BRCA-FR 1 176099443 176099443 single base substitution G T intron_variant BRCA-FR 1 176100236 176100236 single base substitution G C downstream_gene_variant BRCA-FR 1 176100236 176100236 single base substitution G C intron_variant BRCA-FR 1 176103426 176103426 single base substitution G A downstream_gene_variant BRCA-FR 1 176103426 176103426 single base substitution G A intron_variant BRCA-FR 1 176124618 176124618 single base substitution C T intron_variant BRCA-FR 1 176127014 176127014 single base substitution T C intron_variant BRCA-FR 1 176127581 176127581 single base substitution G C intron_variant BRCA-FR 1 176135857 176135857 single base substitution G C intron_variant BRCA-FR 1 176139137 176139137 single base substitution C G intron_variant BRCA-FR 1 176142300 176142300 single base substitution A G intron_variant BRCA-FR 1 176162772 176162772 single base substitution G A intron_variant BRCA-FR 1 176177853 176177853 single base substitution G A upstream_gene_variant BRCA-FR 1 176179080 176179080 single base substitution C G upstream_gene_variant BRCA-KR 1 176175942 176175942 single base substitution G A exon_variant BRCA-KR 1 176175942 176175942 single base substitution G A missense_variant S58L 173C>T BRCA-KR 1 176175942 176175942 single base substitution G A upstream_gene_variant BRCA-UK 1 175925070 175925070 single base substitution T C intron_variant BRCA-UK 1 175955984 175955984 single base substitution C G intron_variant BRCA-UK 1 175967766 175967766 single base substitution C T intron_variant BRCA-UK 1 175989810 175989810 single base substitution C G intron_variant BRCA-UK 1 175994595 175994595 single base substitution C A intron_variant BRCA-UK 1 176019302 176019302 single base substitution G A intron_variant BRCA-UK 1 176038868 176038868 single base substitution C G intron_variant BRCA-UK 1 176056555 176056555 single base substitution T A intron_variant BRCA-UK 1 176061130 176061130 single base substitution T G intron_variant BRCA-UK 1 176062289 176062289 single base substitution C T intron_variant BRCA-UK 1 176094599 176094599 single base substitution C A intron_variant BRCA-UK 1 176103894 176103894 single base substitution T A downstream_gene_variant BRCA-UK 1 176103894 176103894 single base substitution T A intron_variant BRCA-UK 1 176132733 176132733 single base substitution C T intron_variant BRCA-UK 1 176146473 176146473 single base substitution A C intron_variant BRCA-UK 1 176147132 176147132 single base substitution G T intron_variant BRCA-UK 1 176167353 176167353 single base substitution A C intron_variant BRCA-UK 1 176167424 176167424 single base substitution A G intron_variant BRCA-UK 1 176171421 176171421 single base substitution G T intron_variant BRCA-UK 1 176176345 176176345 single base substitution G A 5_prime_UTR_premature_start_codon_gain_variant BRCA-UK 1 176176345 176176345 single base substitution G A upstream_gene_variant BRCA-US 1 175958531 175958531 single base substitution G T 3_prime_UTR_variant BRCA-US 1 175958531 175958531 single base substitution G T exon_variant BRCA-US 1 175958531 175958531 single base substitution G T missense_variant A440E 1319C>A BRCA-US 1 175958531 175958531 single base substitution G T missense_variant A581E 1742C>A BRCA-US 1 175958531 175958531 single base substitution G T missense_variant A605E 1814C>A BRCA-US 1 176012377 176012377 single base substitution A T 3_prime_UTR_variant BRCA-US 1 176012377 176012377 single base substitution A T intron_variant BRCA-US 1 176012377 176012377 single base substitution A T synonymous_variant V238V 714T>A BRCA-US 1 176012377 176012377 single base substitution A T synonymous_variant V354V 1062T>A BRCA-US 1 176012377 176012377 single base substitution A T synonymous_variant V495V 1485T>A BRCA-US 1 176012377 176012377 single base substitution A T synonymous_variant V519V 1557T>A BRCA-US 1 176012391 176012391 single base substitution T G 3_prime_UTR_variant BRCA-US 1 176012391 176012391 single base substitution T G intron_variant BRCA-US 1 176012391 176012391 single base substitution T G synonymous_variant R234R 700A>C BRCA-US 1 176012391 176012391 single base substitution T G synonymous_variant R350R 1048A>C BRCA-US 1 176012391 176012391 single base substitution T G synonymous_variant R491R 1471A>C BRCA-US 1 176012391 176012391 single base substitution T G synonymous_variant R515R 1543A>C BRCA-US 1 176132107 176132107 single base substitution C G 3_prime_UTR_variant BRCA-US 1 176132107 176132107 single base substitution C G intron_variant BRCA-US 1 176132107 176132107 single base substitution C G missense_variant Q216H 648G>C BRCA-US 1 176132107 176132107 single base substitution C G missense_variant Q220H 660G>C BRCA-US 1 176132107 176132107 single base substitution C G missense_variant Q75H 225G>C BRCA-US 1 176132107 176132107 single base substitution C G missense_variant Q79H 237G>C BTCA-JP 1 175916524 175916524 single base substitution T G intron_variant BTCA-JP 1 175916524 175916524 single base substitution T G upstream_gene_variant BTCA-JP 1 175937580 175937580 single base substitution G C intron_variant BTCA-JP 1 176050445 176050445 single base substitution A G downstream_gene_variant BTCA-JP 1 176050445 176050445 single base substitution A G intron_variant BTCA-JP 1 176050445 176050445 single base substitution A G upstream_gene_variant BTCA-JP 1 176054978 176054978 single base substitution G A 3_prime_UTR_variant BTCA-JP 1 176054978 176054978 single base substitution G A downstream_gene_variant BTCA-JP 1 176054978 176054978 single base substitution G A stop_gained R194* 580C>T BTCA-JP 1 176054978 176054978 single base substitution G A stop_gained R335* 1003C>T BTCA-JP 1 176054978 176054978 single base substitution G A stop_gained R359* 1075C>T BTCA-JP 1 176054978 176054978 single base substitution G A stop_gained R78* 232C>T BTCA-JP 1 176054978 176054978 single base substitution G A upstream_gene_variant BTCA-JP 1 176145160 176145160 deletion of <=200bp A - intron_variant BTCA-JP 1 176145160 176145161 deletion of <=200bp AA - intron_variant CESC-US 1 175996801 175996801 single base substitution C G 3_prime_UTR_variant CESC-US 1 175996801 175996801 single base substitution C G exon_variant CESC-US 1 175996801 175996801 single base substitution C G missense_variant D381H 1141G>C CESC-US 1 175996801 175996801 single base substitution C G missense_variant D522H 1564G>C CESC-US 1 175996801 175996801 single base substitution C G missense_variant D546H 1636G>C CESC-US 1 175996812 175996812 single base substitution G C 3_prime_UTR_variant CESC-US 1 175996812 175996812 single base substitution G C exon_variant CESC-US 1 175996812 175996812 single base substitution G C missense_variant S377C 1130C>G CESC-US 1 175996812 175996812 single base substitution G C missense_variant S518C 1553C>G CESC-US 1 175996812 175996812 single base substitution G C missense_variant S542C 1625C>G CESC-US 1 176133017 176133017 single base substitution G C 3_prime_UTR_variant CESC-US 1 176133017 176133017 single base substitution G C intron_variant CESC-US 1 176133017 176133017 single base substitution G C synonymous_variant L192L 576C>G CESC-US 1 176133017 176133017 single base substitution G C synonymous_variant L47L 141C>G CESC-US 1 176133017 176133017 single base substitution G C synonymous_variant L51L 153C>G CLLE-ES 1 175922285 175922285 single base substitution T A intron_variant CLLE-ES 1 175935781 175935782 deletion of <=200bp AG - intron_variant CLLE-ES 1 175944078 175944078 single base substitution A C intron_variant CLLE-ES 1 175955447 175955447 single base substitution A C intron_variant CLLE-ES 1 175962560 175962560 single base substitution T G intron_variant CLLE-ES 1 175964295 175964295 single base substitution G A intron_variant CLLE-ES 1 175983106 175983106 single base substitution A G intron_variant CLLE-ES 1 175999838 175999838 single base substitution C T intron_variant CLLE-ES 1 176033129 176033129 single base substitution T A intron_variant CLLE-ES 1 176038105 176038105 single base substitution T C intron_variant CLLE-ES 1 176039025 176039025 single base substitution C T intron_variant CLLE-ES 1 176101742 176101742 single base substitution G A downstream_gene_variant CLLE-ES 1 176101742 176101742 single base substitution G A intron_variant CLLE-ES 1 176110007 176110007 single base substitution A G intron_variant CLLE-ES 1 176133853 176133853 single base substitution G A intron_variant CLLE-ES 1 176148636 176148636 single base substitution C T intron_variant CLLE-ES 1 176158987 176158987 single base substitution T C intron_variant CLLE-ES 1 176162039 176162039 single base substitution T C intron_variant CLLE-ES 1 176174225 176174225 single base substitution T C intron_variant CLLE-ES 1 176180951 176180951 single base substitution A T upstream_gene_variant COAD-US 1 175996718 175996718 single base substitution G A 3_prime_UTR_variant COAD-US 1 175996718 175996718 single base substitution G A exon_variant COAD-US 1 175996718 175996718 single base substitution G A synonymous_variant F408F 1224C>T COAD-US 1 175996718 175996718 single base substitution G A synonymous_variant F549F 1647C>T COAD-US 1 175996718 175996718 single base substitution G A synonymous_variant F573F 1719C>T COAD-US 1 176015348 176015348 single base substitution C T 3_prime_UTR_variant COAD-US 1 176015348 176015348 single base substitution C T exon_variant COAD-US 1 176015348 176015348 single base substitution C T missense_variant E183K 547G>A COAD-US 1 176015348 176015348 single base substitution C T missense_variant E299K 895G>A COAD-US 1 176015348 176015348 single base substitution C T missense_variant E440K 1318G>A COAD-US 1 176015348 176015348 single base substitution C T missense_variant E464K 1390G>A COCA-CN 1 175937632 175937632 single base substitution G T intron_variant COCA-CN 1 175956021 175956021 single base substitution T C intron_variant COCA-CN 1 175956151 175956151 single base substitution G A 3_prime_UTR_variant COCA-CN 1 175956151 175956151 single base substitution G A exon_variant COCA-CN 1 175956151 175956151 single base substitution G A synonymous_variant L522L 1566C>T COCA-CN 1 175956151 175956151 single base substitution G A synonymous_variant L663L 1989C>T COCA-CN 1 175956151 175956151 single base substitution G A synonymous_variant L687L 2061C>T COCA-CN 1 175957396 175957396 single base substitution A C intron_variant COCA-CN 1 176015494 176015494 single base substitution A C intron_variant COCA-CN 1 176060644 176060644 single base substitution T C intron_variant COCA-CN 1 176103055 176103055 single base substitution C T downstream_gene_variant COCA-CN 1 176103055 176103055 single base substitution C T intron_variant COCA-CN 1 176145160 176145160 single base substitution A G intron_variant COCA-CN 1 176145161 176145161 single base substitution A G intron_variant EOPC-DE 1 176010930 176010930 single base substitution C T downstream_gene_variant EOPC-DE 1 176010930 176010930 single base substitution C T intron_variant EOPC-DE 1 176015482 176015482 single base substitution T C intron_variant EOPC-DE 1 176116045 176116045 single base substitution T A intron_variant EOPC-DE 1 176116877 176116877 single base substitution G T intron_variant EOPC-DE 1 176120913 176120913 single base substitution G A intron_variant EOPC-DE 1 176121921 176121921 single base substitution C T intron_variant EOPC-DE 1 176138358 176138358 single base substitution G A intron_variant ESAD-UK 1 175910742 175910742 single base substitution T C downstream_gene_variant ESAD-UK 1 175910764 175910764 single base substitution A T downstream_gene_variant ESAD-UK 1 175911756 175911756 single base substitution C T downstream_gene_variant ESAD-UK 1 175912280 175912280 single base substitution G A downstream_gene_variant ESAD-UK 1 175912532 175912532 single base substitution C T downstream_gene_variant ESAD-UK 1 175915364 175915364 single base substitution C G intron_variant ESAD-UK 1 175919509 175919509 single base substitution A G intron_variant ESAD-UK 1 175919509 175919509 single base substitution A G upstream_gene_variant ESAD-UK 1 175921808 175921808 single base substitution G C intron_variant ESAD-UK 1 175922123 175922123 single base substitution T G intron_variant ESAD-UK 1 175922160 175922160 single base substitution T A intron_variant ESAD-UK 1 175923387 175923387 single base substitution T C intron_variant ESAD-UK 1 175924417 175924417 single base substitution G A intron_variant ESAD-UK 1 175926197 175926198 deletion of <=200bp AA - intron_variant ESAD-UK 1 175927080 175927080 single base substitution G T intron_variant ESAD-UK 1 175927239 175927239 single base substitution T C intron_variant ESAD-UK 1 175927767 175927767 single base substitution T G intron_variant ESAD-UK 1 175927830 175927830 single base substitution G T intron_variant ESAD-UK 1 175928822 175928822 single base substitution G A intron_variant ESAD-UK 1 175929235 175929235 single base substitution T C intron_variant ESAD-UK 1 175929404 175929404 single base substitution C T intron_variant ESAD-UK 1 175930530 175930530 single base substitution C G intron_variant ESAD-UK 1 175931425 175931425 single base substitution T C intron_variant ESAD-UK 1 175932267 175932267 single base substitution C G intron_variant ESAD-UK 1 175933985 175933985 single base substitution C G intron_variant ESAD-UK 1 175935543 175935543 single base substitution A C intron_variant ESAD-UK 1 175936279 175936279 single base substitution A G intron_variant ESAD-UK 1 175937924 175937924 single base substitution C T intron_variant ESAD-UK 1 175940835 175940835 single base substitution T G intron_variant ESAD-UK 1 175942247 175942247 single base substitution C T intron_variant ESAD-UK 1 175943489 175943489 single base substitution T G intron_variant ESAD-UK 1 175943494 175943494 single base substitution A T intron_variant ESAD-UK 1 175944554 175944554 deletion of <=200bp T - intron_variant ESAD-UK 1 175944648 175944648 single base substitution C T intron_variant ESAD-UK 1 175944856 175944856 single base substitution C T intron_variant ESAD-UK 1 175945997 175945997 insertion of <=200bp - T intron_variant ESAD-UK 1 175946371 175946371 single base substitution G A intron_variant ESAD-UK 1 175946765 175946765 single base substitution A G intron_variant ESAD-UK 1 175946801 175946801 deletion of <=200bp A - intron_variant ESAD-UK 1 175947556 175947556 single base substitution C G intron_variant ESAD-UK 1 175949670 175949670 single base substitution A C intron_variant ESAD-UK 1 175949968 175949968 single base substitution G C intron_variant ESAD-UK 1 175950181 175950181 single base substitution C A intron_variant ESAD-UK 1 175950225 175950225 deletion of <=200bp A - intron_variant ESAD-UK 1 175950966 175950966 single base substitution T C intron_variant ESAD-UK 1 175952182 175952182 insertion of <=200bp - A intron_variant ESAD-UK 1 175955130 175955130 single base substitution C T intron_variant ESAD-UK 1 175956064 175956064 single base substitution G C intron_variant ESAD-UK 1 175956087 175956087 single base substitution G C 3_prime_UTR_variant ESAD-UK 1 175956087 175956087 single base substitution G C exon_variant ESAD-UK 1 175956087 175956087 single base substitution G C missense_variant P544A 1630C>G ESAD-UK 1 175956087 175956087 single base substitution G C missense_variant P685A 2053C>G ESAD-UK 1 175956087 175956087 single base substitution G C missense_variant P709A 2125C>G ESAD-UK 1 175957575 175957575 single base substitution C G exon_variant ESAD-UK 1 175957575 175957575 single base substitution C G intron_variant ESAD-UK 1 175959608 175959608 single base substitution G A intron_variant ESAD-UK 1 175961305 175961305 single base substitution T C intron_variant ESAD-UK 1 175961538 175961538 single base substitution G A intron_variant ESAD-UK 1 175963945 175963945 single base substitution C T intron_variant ESAD-UK 1 175964339 175964339 single base substitution C A intron_variant ESAD-UK 1 175968769 175968769 single base substitution G A intron_variant ESAD-UK 1 175968816 175968816 single base substitution C T intron_variant ESAD-UK 1 175968943 175968943 single base substitution T A intron_variant ESAD-UK 1 175968987 175968987 single base substitution A G intron_variant ESAD-UK 1 175969396 175969396 single base substitution T C intron_variant ESAD-UK 1 175970704 175970704 single base substitution C T intron_variant ESAD-UK 1 175972179 175972179 single base substitution G A intron_variant ESAD-UK 1 175977306 175977306 single base substitution C A intron_variant ESAD-UK 1 175977582 175977582 single base substitution A G intron_variant ESAD-UK 1 175978423 175978423 single base substitution G A intron_variant ESAD-UK 1 175978670 175978670 single base substitution G T intron_variant ESAD-UK 1 175980020 175980020 single base substitution G T intron_variant ESAD-UK 1 175980676 175980676 single base substitution G C intron_variant ESAD-UK 1 175984124 175984124 single base substitution A G intron_variant ESAD-UK 1 175984653 175984653 single base substitution A G intron_variant ESAD-UK 1 175985877 175985877 single base substitution A T intron_variant ESAD-UK 1 175988932 175988932 single base substitution G A intron_variant ESAD-UK 1 175989626 175989626 single base substitution C G intron_variant ESAD-UK 1 175989676 175989676 single base substitution A G intron_variant ESAD-UK 1 175990347 175990347 single base substitution C G intron_variant ESAD-UK 1 175990350 175990350 deletion of <=200bp T - intron_variant ESAD-UK 1 175992321 175992321 single base substitution G A intron_variant ESAD-UK 1 175992431 175992431 single base substitution G A intron_variant ESAD-UK 1 175995330 175995330 single base substitution G A intron_variant ESAD-UK 1 175996028 175996028 single base substitution G C intron_variant ESAD-UK 1 175996834 175996834 single base substitution A T intron_variant ESAD-UK 1 175997662 175997662 single base substitution C A intron_variant ESAD-UK 1 175998592 175998592 single base substitution G A intron_variant ESAD-UK 1 176001216 176001216 single base substitution C T intron_variant ESAD-UK 1 176003777 176003777 single base substitution T G intron_variant ESAD-UK 1 176004401 176004401 single base substitution T A intron_variant ESAD-UK 1 176004702 176004702 single base substitution C T intron_variant ESAD-UK 1 176006001 176006001 single base substitution G A intron_variant ESAD-UK 1 176006935 176006935 single base substitution A T intron_variant ESAD-UK 1 176007368 176007368 single base substitution G C downstream_gene_variant ESAD-UK 1 176007368 176007368 single base substitution G C intron_variant ESAD-UK 1 176012691 176012691 deletion of <=200bp A - intron_variant ESAD-UK 1 176016011 176016011 single base substitution C A intron_variant ESAD-UK 1 176016759 176016759 single base substitution T C intron_variant ESAD-UK 1 176017100 176017100 single base substitution T C intron_variant ESAD-UK 1 176017264 176017264 single base substitution C T intron_variant ESAD-UK 1 176020717 176020717 single base substitution T A intron_variant ESAD-UK 1 176020998 176020998 single base substitution T G intron_variant ESAD-UK 1 176021754 176021754 insertion of <=200bp - A intron_variant ESAD-UK 1 176023592 176023592 single base substitution C A intron_variant ESAD-UK 1 176024290 176024290 single base substitution C T intron_variant ESAD-UK 1 176024335 176024335 single base substitution C T intron_variant ESAD-UK 1 176025387 176025387 single base substitution G C intron_variant ESAD-UK 1 176025648 176025649 deletion of <=200bp GT - intron_variant ESAD-UK 1 176027961 176027961 single base substitution T A intron_variant ESAD-UK 1 176028464 176028466 deletion of <=200bp ATT - intron_variant ESAD-UK 1 176028812 176028812 single base substitution T C intron_variant ESAD-UK 1 176029956 176029956 insertion of <=200bp - A intron_variant ESAD-UK 1 176031258 176031258 single base substitution T C intron_variant ESAD-UK 1 176031472 176031472 single base substitution G T intron_variant ESAD-UK 1 176032562 176032562 single base substitution T C intron_variant ESAD-UK 1 176033275 176033275 single base substitution T C intron_variant ESAD-UK 1 176033892 176033892 single base substitution C T intron_variant ESAD-UK 1 176034508 176034508 single base substitution A G intron_variant ESAD-UK 1 176035879 176035879 single base substitution T C intron_variant ESAD-UK 1 176036391 176036391 single base substitution G A intron_variant ESAD-UK 1 176036509 176036509 single base substitution C T intron_variant ESAD-UK 1 176037772 176037772 deletion of <=200bp T - intron_variant ESAD-UK 1 176039030 176039030 single base substitution T C intron_variant ESAD-UK 1 176039573 176039573 single base substitution T C intron_variant ESAD-UK 1 176040494 176040494 single base substitution C A intron_variant ESAD-UK 1 176042141 176042141 single base substitution G A intron_variant ESAD-UK 1 176042599 176042599 single base substitution T A intron_variant ESAD-UK 1 176043636 176043636 single base substitution G A intron_variant ESAD-UK 1 176044242 176044242 single base substitution A G intron_variant ESAD-UK 1 176049148 176049148 single base substitution A G intron_variant ESAD-UK 1 176050117 176050117 single base substitution G A downstream_gene_variant ESAD-UK 1 176050117 176050117 single base substitution G A intron_variant ESAD-UK 1 176050725 176050725 single base substitution A T downstream_gene_variant ESAD-UK 1 176050725 176050725 single base substitution A T intron_variant ESAD-UK 1 176050725 176050725 single base substitution A T upstream_gene_variant ESAD-UK 1 176052194 176052194 single base substitution G A downstream_gene_variant ESAD-UK 1 176052194 176052194 single base substitution G A intron_variant ESAD-UK 1 176052194 176052194 single base substitution G A upstream_gene_variant ESAD-UK 1 176052265 176052265 single base substitution G A downstream_gene_variant ESAD-UK 1 176052265 176052265 single base substitution G A intron_variant ESAD-UK 1 176052265 176052265 single base substitution G A upstream_gene_variant ESAD-UK 1 176053269 176053269 single base substitution T A downstream_gene_variant ESAD-UK 1 176053269 176053269 single base substitution T A intron_variant ESAD-UK 1 176053269 176053269 single base substitution T A upstream_gene_variant ESAD-UK 1 176054510 176054510 single base substitution G C downstream_gene_variant ESAD-UK 1 176054510 176054510 single base substitution G C intron_variant ESAD-UK 1 176054510 176054510 single base substitution G C upstream_gene_variant ESAD-UK 1 176055282 176055282 single base substitution G C intron_variant ESAD-UK 1 176055282 176055282 single base substitution G C upstream_gene_variant ESAD-UK 1 176055312 176055312 single base substitution G T intron_variant ESAD-UK 1 176055312 176055312 single base substitution G T upstream_gene_variant ESAD-UK 1 176056481 176056481 single base substitution T C intron_variant ESAD-UK 1 176057448 176057448 single base substitution G A intron_variant ESAD-UK 1 176057462 176057462 single base substitution C T intron_variant ESAD-UK 1 176059746 176059746 single base substitution T C intron_variant ESAD-UK 1 176060728 176060728 single base substitution T C intron_variant ESAD-UK 1 176060858 176060858 single base substitution G A intron_variant ESAD-UK 1 176061017 176061017 single base substitution C A intron_variant ESAD-UK 1 176061366 176061366 single base substitution T C intron_variant ESAD-UK 1 176065580 176065580 single base substitution T C intron_variant ESAD-UK 1 176066056 176066056 single base substitution T A intron_variant ESAD-UK 1 176067453 176067453 single base substitution G A intron_variant ESAD-UK 1 176068441 176068441 single base substitution T C intron_variant ESAD-UK 1 176069253 176069253 single base substitution C T intron_variant ESAD-UK 1 176070881 176070881 single base substitution C T intron_variant ESAD-UK 1 176071097 176071097 single base substitution G A intron_variant ESAD-UK 1 176071471 176071471 single base substitution G C intron_variant ESAD-UK 1 176072844 176072844 single base substitution A C intron_variant ESAD-UK 1 176073608 176073608 single base substitution G A intron_variant ESAD-UK 1 176073701 176073701 single base substitution C G intron_variant ESAD-UK 1 176074706 176074706 single base substitution G C intron_variant ESAD-UK 1 176076240 176076240 single base substitution G C intron_variant ESAD-UK 1 176076621 176076621 single base substitution T C intron_variant ESAD-UK 1 176076678 176076678 single base substitution G C intron_variant ESAD-UK 1 176078046 176078046 single base substitution G A intron_variant ESAD-UK 1 176078069 176078069 single base substitution G A intron_variant ESAD-UK 1 176078970 176078970 deletion of <=200bp T - intron_variant ESAD-UK 1 176079999 176079999 single base substitution G A intron_variant ESAD-UK 1 176080411 176080411 single base substitution T C intron_variant ESAD-UK 1 176081909 176081909 deletion of <=200bp T - downstream_gene_variant ESAD-UK 1 176081909 176081909 deletion of <=200bp T - intron_variant ESAD-UK 1 176083401 176083401 single base substitution C T downstream_gene_variant ESAD-UK 1 176083401 176083401 single base substitution C T intron_variant ESAD-UK 1 176084850 176084850 single base substitution C G downstream_gene_variant ESAD-UK 1 176084850 176084850 single base substitution C G intron_variant ESAD-UK 1 176086474 176086474 single base substitution T C intron_variant ESAD-UK 1 176087065 176087065 insertion of <=200bp - A intron_variant ESAD-UK 1 176087836 176087836 single base substitution G A intron_variant ESAD-UK 1 176088096 176088096 single base substitution C G intron_variant ESAD-UK 1 176088158 176088158 single base substitution C G intron_variant ESAD-UK 1 176089723 176089723 insertion of <=200bp - A intron_variant ESAD-UK 1 176090375 176090375 single base substitution T G intron_variant ESAD-UK 1 176090512 176090512 single base substitution T C intron_variant ESAD-UK 1 176090823 176090823 single base substitution C T intron_variant ESAD-UK 1 176091451 176091451 single base substitution C T intron_variant ESAD-UK 1 176091613 176091613 single base substitution A C intron_variant ESAD-UK 1 176091638 176091638 single base substitution A C intron_variant ESAD-UK 1 176091908 176091908 single base substitution C A intron_variant ESAD-UK 1 176091923 176091923 insertion of <=200bp - T intron_variant ESAD-UK 1 176092295 176092295 deletion of <=200bp A - intron_variant ESAD-UK 1 176094305 176094305 single base substitution T G intron_variant ESAD-UK 1 176094326 176094326 single base substitution C T intron_variant ESAD-UK 1 176094458 176094458 deletion of <=200bp T - intron_variant ESAD-UK 1 176095836 176095836 single base substitution C T intron_variant ESAD-UK 1 176096533 176096533 single base substitution T G intron_variant ESAD-UK 1 176098580 176098580 single base substitution T A intron_variant ESAD-UK 1 176098825 176098825 single base substitution G C intron_variant ESAD-UK 1 176099076 176099076 single base substitution C T intron_variant ESAD-UK 1 176099442 176099442 single base substitution A C downstream_gene_variant ESAD-UK 1 176099442 176099442 single base substitution A C intron_variant ESAD-UK 1 176099507 176099509 deletion of <=200bp ATT - downstream_gene_variant ESAD-UK 1 176099507 176099509 deletion of <=200bp ATT - intron_variant ESAD-UK 1 176099700 176099700 insertion of <=200bp - T downstream_gene_variant ESAD-UK 1 176099700 176099700 insertion of <=200bp - T intron_variant ESAD-UK 1 176099875 176099875 single base substitution G C downstream_gene_variant ESAD-UK 1 176099875 176099875 single base substitution G C intron_variant ESAD-UK 1 176099891 176099891 single base substitution A T downstream_gene_variant ESAD-UK 1 176099891 176099891 single base substitution A T intron_variant ESAD-UK 1 176100764 176100764 single base substitution A G downstream_gene_variant ESAD-UK 1 176100764 176100764 single base substitution A G intron_variant ESAD-UK 1 176101407 176101407 single base substitution A C downstream_gene_variant ESAD-UK 1 176101407 176101407 single base substitution A C intron_variant ESAD-UK 1 176101418 176101418 single base substitution G A downstream_gene_variant ESAD-UK 1 176101418 176101418 single base substitution G A intron_variant ESAD-UK 1 176103176 176103176 single base substitution T A downstream_gene_variant ESAD-UK 1 176103176 176103176 single base substitution T A intron_variant ESAD-UK 1 176103690 176103690 single base substitution A G downstream_gene_variant ESAD-UK 1 176103690 176103690 single base substitution A G intron_variant ESAD-UK 1 176103775 176103775 single base substitution G C downstream_gene_variant ESAD-UK 1 176103775 176103775 single base substitution G C intron_variant ESAD-UK 1 176103814 176103841 deletion of <=200bp TTACCACTTCATGTTCTCAAATTTAGAT - downstream_gene_variant ESAD-UK 1 176103814 176103841 deletion of <=200bp TTACCACTTCATGTTCTCAAATTTAGAT - intron_variant ESAD-UK 1 176104804 176104804 single base substitution T C intron_variant ESAD-UK 1 176104804 176104804 single base substitution T C upstream_gene_variant ESAD-UK 1 176105312 176105312 single base substitution G T intron_variant ESAD-UK 1 176105312 176105312 single base substitution G T upstream_gene_variant ESAD-UK 1 176105525 176105525 single base substitution G A intron_variant ESAD-UK 1 176105525 176105525 single base substitution G A upstream_gene_variant ESAD-UK 1 176109832 176109832 single base substitution G A intron_variant ESAD-UK 1 176110004 176110004 single base substitution G A intron_variant ESAD-UK 1 176110395 176110395 single base substitution T A intron_variant ESAD-UK 1 176114223 176114223 single base substitution G A intron_variant ESAD-UK 1 176115751 176115751 single base substitution T C intron_variant ESAD-UK 1 176115772 176115772 single base substitution C G intron_variant ESAD-UK 1 176116823 176116823 single base substitution A C intron_variant ESAD-UK 1 176117424 176117424 single base substitution A T intron_variant ESAD-UK 1 176120105 176120105 single base substitution A C intron_variant ESAD-UK 1 176120487 176120487 single base substitution G A intron_variant ESAD-UK 1 176120646 176120646 single base substitution C G intron_variant ESAD-UK 1 176121009 176121009 single base substitution T C intron_variant ESAD-UK 1 176121411 176121411 single base substitution A C intron_variant ESAD-UK 1 176124141 176124141 single base substitution A G intron_variant ESAD-UK 1 176125147 176125147 deletion of <=200bp A - intron_variant ESAD-UK 1 176125160 176125160 single base substitution G T intron_variant ESAD-UK 1 176126966 176126966 single base substitution G A intron_variant ESAD-UK 1 176128189 176128189 single base substitution G A intron_variant ESAD-UK 1 176129803 176129803 deletion of <=200bp A - intron_variant ESAD-UK 1 176130606 176130606 insertion of <=200bp - A intron_variant ESAD-UK 1 176131714 176131714 deletion of <=200bp A - intron_variant ESAD-UK 1 176133304 176133304 single base substitution G A intron_variant ESAD-UK 1 176133985 176133985 single base substitution T A intron_variant ESAD-UK 1 176136653 176136653 single base substitution T G intron_variant ESAD-UK 1 176137771 176137771 single base substitution G C intron_variant ESAD-UK 1 176140916 176140916 single base substitution C A intron_variant ESAD-UK 1 176141005 176141005 single base substitution A G intron_variant ESAD-UK 1 176141384 176141384 single base substitution C T intron_variant ESAD-UK 1 176143709 176143709 single base substitution A G intron_variant ESAD-UK 1 176144084 176144084 single base substitution C T intron_variant ESAD-UK 1 176144253 176144253 single base substitution C T intron_variant ESAD-UK 1 176144617 176144617 single base substitution G A intron_variant ESAD-UK 1 176145160 176145160 deletion of <=200bp A - intron_variant ESAD-UK 1 176145160 176145160 insertion of <=200bp - A intron_variant ESAD-UK 1 176146922 176146922 single base substitution C T intron_variant ESAD-UK 1 176147001 176147001 single base substitution C T intron_variant ESAD-UK 1 176148133 176148133 single base substitution A T intron_variant ESAD-UK 1 176148752 176148752 single base substitution G A intron_variant ESAD-UK 1 176148888 176148888 deletion of <=200bp T - intron_variant ESAD-UK 1 176148888 176148888 single base substitution T A intron_variant ESAD-UK 1 176151571 176151571 single base substitution C T intron_variant ESAD-UK 1 176151979 176151979 single base substitution G A intron_variant ESAD-UK 1 176152228 176152228 single base substitution T A intron_variant ESAD-UK 1 176156216 176156216 single base substitution A G intron_variant ESAD-UK 1 176156216 176156216 single base substitution A G upstream_gene_variant ESAD-UK 1 176156892 176156892 single base substitution A C intron_variant ESAD-UK 1 176156892 176156892 single base substitution A C upstream_gene_variant ESAD-UK 1 176156969 176156969 single base substitution G C intron_variant ESAD-UK 1 176156969 176156969 single base substitution G C upstream_gene_variant ESAD-UK 1 176157390 176157390 single base substitution T G intron_variant ESAD-UK 1 176157390 176157390 single base substitution T G upstream_gene_variant ESAD-UK 1 176157809 176157809 single base substitution C A intron_variant ESAD-UK 1 176157809 176157809 single base substitution C A upstream_gene_variant ESAD-UK 1 176157991 176157991 insertion of <=200bp - AT intron_variant ESAD-UK 1 176157991 176157991 insertion of <=200bp - AT upstream_gene_variant ESAD-UK 1 176163542 176163542 single base substitution G A intron_variant ESAD-UK 1 176164793 176164793 single base substitution G A intron_variant ESAD-UK 1 176165698 176165698 single base substitution T C intron_variant ESAD-UK 1 176166912 176166912 single base substitution A C intron_variant ESAD-UK 1 176167175 176167175 single base substitution G A intron_variant ESAD-UK 1 176167275 176167275 single base substitution C T intron_variant ESAD-UK 1 176168016 176168024 deletion of <=200bp CTACATATC - intron_variant ESAD-UK 1 176168036 176168036 single base substitution C T intron_variant ESAD-UK 1 176169244 176169244 single base substitution G A intron_variant ESAD-UK 1 176172191 176172191 single base substitution C T intron_variant ESAD-UK 1 176176722 176176722 single base substitution C A upstream_gene_variant ESAD-UK 1 176177063 176177063 single base substitution T C upstream_gene_variant ESAD-UK 1 176177739 176177739 single base substitution G A upstream_gene_variant ESAD-UK 1 176178739 176178739 single base substitution T C upstream_gene_variant ESAD-UK 1 176180019 176180019 single base substitution G T upstream_gene_variant ESCA-CN 1 175958500 175958501 deletion of <=200bp AG - exon_variant ESCA-CN 1 175958500 175958501 deletion of <=200bp AG - frameshift_variant S450 ESCA-CN 1 175958500 175958501 deletion of <=200bp AG - frameshift_variant S591 ESCA-CN 1 175958500 175958501 deletion of <=200bp AG - frameshift_variant S615 ESCA-CN 1 175958500 175958501 deletion of <=200bp AG - splice_region_variant ESCA-CN 1 176050300 176050300 single base substitution C A 3_prime_UTR_variant ESCA-CN 1 176050300 176050300 single base substitution C A downstream_gene_variant ESCA-CN 1 176050300 176050300 single base substitution C A exon_variant ESCA-CN 1 176050300 176050300 single base substitution C A missense_variant S141I 422G>T ESCA-CN 1 176050300 176050300 single base substitution C A missense_variant S257I 770G>T ESCA-CN 1 176050300 176050300 single base substitution C A missense_variant S398I 1193G>T ESCA-CN 1 176050300 176050300 single base substitution C A missense_variant S422I 1265G>T ESCA-CN 1 176145079 176145079 single base substitution C A exon_variant ESCA-CN 1 176145079 176145079 single base substitution C A intron_variant ESCA-CN 1 176145079 176145079 single base substitution C A missense_variant D178Y 532G>T ESCA-CN 1 176145079 176145079 single base substitution C A missense_variant D33Y 97G>T ESCA-CN 1 176145079 176145079 single base substitution C A missense_variant D37Y 109G>T ESCA-CN 1 176145105 176145105 single base substitution C T exon_variant ESCA-CN 1 176145105 176145105 single base substitution C T intron_variant ESCA-CN 1 176145105 176145105 single base substitution C T missense_variant R169K 506G>A ESCA-CN 1 176145105 176145105 single base substitution C T missense_variant R24K 71G>A ESCA-CN 1 176145105 176145105 single base substitution C T missense_variant R28K 83G>A ESCA-CN 1 176145224 176145224 single base substitution T C intron_variant ESCA-CN 1 176175755 176175755 single base substitution G A exon_variant ESCA-CN 1 176175755 176175755 single base substitution G A synonymous_variant C120C 360C>T ESCA-CN 1 176175755 176175755 single base substitution G A upstream_gene_variant KIRC-US 1 176055007 176055007 single base substitution T C 3_prime_UTR_variant KIRC-US 1 176055007 176055007 single base substitution T C missense_variant Y184C 551A>G KIRC-US 1 176055007 176055007 single base substitution T C missense_variant Y188C 563A>G KIRC-US 1 176055007 176055007 single base substitution T C missense_variant Y325C 974A>G KIRC-US 1 176055007 176055007 single base substitution T C missense_variant Y349C 1046A>G KIRC-US 1 176055007 176055007 single base substitution T C missense_variant Y68C 203A>G KIRC-US 1 176055007 176055007 single base substitution T C upstream_gene_variant KIRC-US 1 176132093 176132093 single base substitution C A 3_prime_UTR_variant KIRC-US 1 176132093 176132093 single base substitution C A intron_variant KIRC-US 1 176132093 176132093 single base substitution C A missense_variant W221L 662G>T KIRC-US 1 176132093 176132093 single base substitution C A missense_variant W225L 674G>T KIRC-US 1 176132093 176132093 single base substitution C A missense_variant W80L 239G>T KIRC-US 1 176132093 176132093 single base substitution C A missense_variant W84L 251G>T KIRP-US 1 175996826 175996826 single base substitution T C splice_acceptor_variant LAML-KR 1 175924919 175924919 single base substitution C A intron_variant LAML-KR 1 175965639 175965639 single base substitution C T intron_variant LAML-KR 1 175971650 175971650 single base substitution A C intron_variant LAML-KR 1 175972220 175972220 single base substitution G T intron_variant LAML-KR 1 175994595 175994595 single base substitution C A intron_variant LAML-KR 1 176011361 176011361 single base substitution T C downstream_gene_variant LAML-KR 1 176011361 176011361 single base substitution T C intron_variant LAML-KR 1 176011393 176011393 single base substitution C T downstream_gene_variant LAML-KR 1 176011393 176011393 single base substitution C T intron_variant LAML-KR 1 176108402 176108402 single base substitution G A intron_variant LAML-KR 1 176108402 176108402 single base substitution G A upstream_gene_variant LAML-KR 1 176112275 176112275 single base substitution C A intron_variant LGG-US 1 175957522 175957523 deletion of <=200bp CA - 3_prime_UTR_variant LGG-US 1 175957522 175957523 deletion of <=200bp CA - exon_variant LGG-US 1 175957522 175957523 deletion of <=200bp CA - frameshift_variant W460 LGG-US 1 175957522 175957523 deletion of <=200bp CA - frameshift_variant W601 LGG-US 1 175957522 175957523 deletion of <=200bp CA - frameshift_variant W625 LGG-US 1 176132075 176132075 single base substitution T C 3_prime_UTR_variant LGG-US 1 176132075 176132075 single base substitution T C intron_variant LGG-US 1 176132075 176132075 single base substitution T C missense_variant D227G 680A>G LGG-US 1 176132075 176132075 single base substitution T C missense_variant D231G 692A>G LGG-US 1 176132075 176132075 single base substitution T C missense_variant D86G 257A>G LGG-US 1 176132075 176132075 single base substitution T C missense_variant D90G 269A>G LICA-FR 1 175923529 175923529 single base substitution T G intron_variant LICA-FR 1 175927940 175927940 single base substitution T C intron_variant LICA-FR 1 175957465 175957465 deletion of <=200bp T - 3_prime_UTR_variant LICA-FR 1 175957465 175957465 deletion of <=200bp T - exon_variant LICA-FR 1 175957465 175957465 deletion of <=200bp T - frameshift_variant N479 LICA-FR 1 175957465 175957465 deletion of <=200bp T - frameshift_variant N620 LICA-FR 1 175957465 175957465 deletion of <=200bp T - frameshift_variant N644 LICA-FR 1 175965397 175965397 single base substitution G A intron_variant LICA-FR 1 175972116 175972116 single base substitution A G intron_variant LICA-FR 1 175980396 175980396 single base substitution A C intron_variant LICA-FR 1 175989760 175989760 single base substitution C A intron_variant LICA-FR 1 176008325 176008325 single base substitution C T downstream_gene_variant LICA-FR 1 176008325 176008325 single base substitution C T intron_variant LICA-FR 1 176014718 176014718 deletion of <=200bp A - intron_variant LICA-FR 1 176018584 176018584 single base substitution T C intron_variant LICA-FR 1 176037636 176037636 single base substitution G A intron_variant LICA-FR 1 176039104 176039104 single base substitution T C intron_variant LICA-FR 1 176055364 176055364 insertion of <=200bp - T intron_variant LICA-FR 1 176055364 176055364 insertion of <=200bp - T upstream_gene_variant LICA-FR 1 176065585 176065585 single base substitution C T intron_variant LICA-FR 1 176067922 176067922 single base substitution C T intron_variant LICA-FR 1 176067923 176067923 single base substitution T G intron_variant LICA-FR 1 176094803 176094803 single base substitution T C intron_variant LICA-FR 1 176104106 176104106 single base substitution T C downstream_gene_variant LICA-FR 1 176104106 176104106 single base substitution T C intron_variant LICA-FR 1 176140227 176140227 single base substitution C G intron_variant LICA-FR 1 176177862 176177862 single base substitution C G upstream_gene_variant LIHC-US 1 175956209 175956209 single base substitution T C 3_prime_UTR_variant LIHC-US 1 175956209 175956209 single base substitution T C exon_variant LIHC-US 1 175956209 175956209 single base substitution T C missense_variant Y503C 1508A>G LIHC-US 1 175956209 175956209 single base substitution T C missense_variant Y644C 1931A>G LIHC-US 1 175956209 175956209 single base substitution T C missense_variant Y668C 2003A>G LIHC-US 1 175958553 175958553 single base substitution G A 3_prime_UTR_variant LIHC-US 1 175958553 175958553 single base substitution G A exon_variant LIHC-US 1 175958553 175958553 single base substitution G A missense_variant H433Y 1297C>T LIHC-US 1 175958553 175958553 single base substitution G A missense_variant H574Y 1720C>T LIHC-US 1 175958553 175958553 single base substitution G A missense_variant H598Y 1792C>T LINC-JP 1 175913126 175913126 single base substitution G A downstream_gene_variant LINC-JP 1 175918344 175918344 single base substitution C T intron_variant LINC-JP 1 175918344 175918344 single base substitution C T upstream_gene_variant LINC-JP 1 175921970 175921970 single base substitution T C intron_variant LINC-JP 1 175939255 175939255 single base substitution A C intron_variant LINC-JP 1 175945089 175945089 single base substitution G C intron_variant LINC-JP 1 175949668 175949668 single base substitution C A intron_variant LINC-JP 1 175958611 175958611 single base substitution G C 3_prime_UTR_variant LINC-JP 1 175958611 175958611 single base substitution G C exon_variant LINC-JP 1 175958611 175958611 single base substitution G C missense_variant H413Q 1239C>G LINC-JP 1 175958611 175958611 single base substitution G C missense_variant H554Q 1662C>G LINC-JP 1 175958611 175958611 single base substitution G C missense_variant H578Q 1734C>G LINC-JP 1 175982422 175982422 single base substitution T C intron_variant LINC-JP 1 175985271 175985271 single base substitution T C intron_variant LINC-JP 1 175985739 175985739 single base substitution T C intron_variant LINC-JP 1 175993843 175993843 single base substitution C A intron_variant LINC-JP 1 175996843 175996843 deletion of <=200bp A - intron_variant LINC-JP 1 175997101 175997101 single base substitution G A intron_variant LINC-JP 1 176000850 176000850 single base substitution C T intron_variant LINC-JP 1 176015563 176015563 single base substitution C T intron_variant LINC-JP 1 176030427 176030427 single base substitution A G intron_variant LINC-JP 1 176057489 176057489 single base substitution T C intron_variant LINC-JP 1 176082988 176082988 single base substitution T C downstream_gene_variant LINC-JP 1 176082988 176082988 single base substitution T C intron_variant LINC-JP 1 176089331 176089331 single base substitution C G intron_variant LINC-JP 1 176090655 176090655 single base substitution A T intron_variant LINC-JP 1 176091415 176091415 single base substitution T C intron_variant LINC-JP 1 176094760 176094760 single base substitution T C intron_variant LINC-JP 1 176101389 176101389 single base substitution T C downstream_gene_variant LINC-JP 1 176101389 176101389 single base substitution T C intron_variant LINC-JP 1 176102957 176102957 single base substitution A C downstream_gene_variant LINC-JP 1 176102957 176102957 single base substitution A C intron_variant LINC-JP 1 176105796 176105796 insertion of <=200bp - C intron_variant LINC-JP 1 176105796 176105796 insertion of <=200bp - C upstream_gene_variant LINC-JP 1 176130887 176130887 single base substitution T C intron_variant LINC-JP 1 176134112 176134112 single base substitution T C intron_variant LINC-JP 1 176144984 176144984 single base substitution C T intron_variant LINC-JP 1 176146910 176146910 single base substitution T C intron_variant LINC-JP 1 176147250 176147250 single base substitution C T intron_variant LINC-JP 1 176153451 176153451 single base substitution T C intron_variant LINC-JP 1 176157996 176157996 single base substitution G C intron_variant LINC-JP 1 176157996 176157996 single base substitution G C upstream_gene_variant LINC-JP 1 176168040 176168040 single base substitution T C intron_variant LINC-JP 1 176176802 176176802 insertion of <=200bp - T upstream_gene_variant LIRI-JP 1 175911986 175911986 single base substitution T C downstream_gene_variant LIRI-JP 1 175912022 175912022 single base substitution T C downstream_gene_variant LIRI-JP 1 175913473 175913473 single base substitution A G downstream_gene_variant LIRI-JP 1 175913481 175913481 single base substitution A C downstream_gene_variant LIRI-JP 1 175918476 175918476 single base substitution T C intron_variant LIRI-JP 1 175918476 175918476 single base substitution T C upstream_gene_variant LIRI-JP 1 175919029 175919029 single base substitution T C intron_variant LIRI-JP 1 175919029 175919029 single base substitution T C upstream_gene_variant LIRI-JP 1 175919374 175919374 single base substitution G T intron_variant LIRI-JP 1 175919374 175919374 single base substitution G T upstream_gene_variant LIRI-JP 1 175922632 175922632 single base substitution G A intron_variant LIRI-JP 1 175926355 175926355 single base substitution G A intron_variant LIRI-JP 1 175929501 175929501 single base substitution A T intron_variant LIRI-JP 1 175929821 175929821 single base substitution A C intron_variant LIRI-JP 1 175930203 175930203 single base substitution C A intron_variant LIRI-JP 1 175931890 175931890 single base substitution G A intron_variant LIRI-JP 1 175933551 175933551 single base substitution T C intron_variant LIRI-JP 1 175933798 175933798 single base substitution A G intron_variant LIRI-JP 1 175934635 175934635 single base substitution A G intron_variant LIRI-JP 1 175935721 175935721 single base substitution C G intron_variant LIRI-JP 1 175935759 175935759 single base substitution T G intron_variant LIRI-JP 1 175937808 175937808 single base substitution C G intron_variant LIRI-JP 1 175938132 175938132 single base substitution T C intron_variant LIRI-JP 1 175938859 175938859 single base substitution C T intron_variant LIRI-JP 1 175939267 175939267 deletion of <=200bp G - intron_variant LIRI-JP 1 175939728 175939728 single base substitution A G intron_variant LIRI-JP 1 175940119 175940119 single base substitution T G intron_variant LIRI-JP 1 175941850 175941850 single base substitution C A intron_variant LIRI-JP 1 175941851 175941851 single base substitution C T intron_variant LIRI-JP 1 175942763 175942763 single base substitution A C intron_variant LIRI-JP 1 175945036 175945036 single base substitution C A intron_variant LIRI-JP 1 175946165 175946165 single base substitution A T intron_variant LIRI-JP 1 175947489 175947489 single base substitution T G intron_variant LIRI-JP 1 175949496 175949502 deletion of <=200bp ATCTGCT - intron_variant LIRI-JP 1 175951717 175951717 single base substitution A G intron_variant LIRI-JP 1 175952852 175952852 single base substitution G A intron_variant LIRI-JP 1 175953357 175953357 single base substitution T G intron_variant LIRI-JP 1 175953774 175953774 single base substitution C T intron_variant LIRI-JP 1 175955566 175955566 single base substitution T A intron_variant LIRI-JP 1 175955975 175955975 single base substitution T C intron_variant LIRI-JP 1 175957057 175957057 single base substitution T G intron_variant LIRI-JP 1 175957848 175957848 single base substitution A C exon_variant LIRI-JP 1 175957848 175957848 single base substitution A C intron_variant LIRI-JP 1 175958067 175958067 deletion of <=200bp C - exon_variant LIRI-JP 1 175958067 175958067 deletion of <=200bp C - intron_variant LIRI-JP 1 175958402 175958402 single base substitution T C exon_variant LIRI-JP 1 175958402 175958402 single base substitution T C intron_variant LIRI-JP 1 175960001 175960001 single base substitution C T intron_variant LIRI-JP 1 175961473 175961473 single base substitution T C intron_variant LIRI-JP 1 175967507 175967507 single base substitution T C intron_variant LIRI-JP 1 175968003 175968003 single base substitution A C intron_variant LIRI-JP 1 175968040 175968040 deletion of <=200bp T - intron_variant LIRI-JP 1 175968961 175968961 single base substitution C T intron_variant LIRI-JP 1 175968991 175968991 single base substitution T A intron_variant LIRI-JP 1 175970257 175970257 single base substitution T A intron_variant LIRI-JP 1 175974451 175974451 single base substitution C A intron_variant LIRI-JP 1 175975491 175975491 single base substitution G A intron_variant LIRI-JP 1 175975618 175975618 single base substitution G T intron_variant LIRI-JP 1 175978951 175978951 single base substitution C A intron_variant LIRI-JP 1 175979958 175979958 single base substitution T C intron_variant LIRI-JP 1 175980742 175980742 single base substitution T C intron_variant LIRI-JP 1 175980908 175980908 single base substitution T C intron_variant LIRI-JP 1 175981525 175981525 single base substitution G C intron_variant LIRI-JP 1 175982284 175982284 single base substitution T C intron_variant LIRI-JP 1 175982512 175982512 insertion of <=200bp - A intron_variant LIRI-JP 1 175983877 175983877 single base substitution T C intron_variant LIRI-JP 1 175987073 175987074 deletion of <=200bp AG - intron_variant LIRI-JP 1 175987604 175987604 single base substitution G A intron_variant LIRI-JP 1 175991185 175991185 single base substitution A C intron_variant LIRI-JP 1 175991809 175991809 single base substitution T G intron_variant LIRI-JP 1 175992396 175992396 single base substitution T C intron_variant LIRI-JP 1 175992712 175992712 single base substitution G A intron_variant LIRI-JP 1 175993032 175993032 single base substitution T C intron_variant LIRI-JP 1 175994816 175994816 single base substitution A G intron_variant LIRI-JP 1 175995662 175995662 deletion of <=200bp G - intron_variant LIRI-JP 1 175996454 175996454 single base substitution C T intron_variant LIRI-JP 1 175996640 175996640 single base substitution T A intron_variant LIRI-JP 1 176000179 176000179 single base substitution A G intron_variant LIRI-JP 1 176000730 176000730 single base substitution T C intron_variant LIRI-JP 1 176002710 176002710 single base substitution T C intron_variant LIRI-JP 1 176004287 176004287 single base substitution A C intron_variant LIRI-JP 1 176004562 176004562 single base substitution C T intron_variant LIRI-JP 1 176005196 176005196 single base substitution T C intron_variant LIRI-JP 1 176006294 176006294 single base substitution T C intron_variant LIRI-JP 1 176006978 176006978 single base substitution G A intron_variant LIRI-JP 1 176007443 176007443 single base substitution T A downstream_gene_variant LIRI-JP 1 176007443 176007443 single base substitution T A intron_variant LIRI-JP 1 176007510 176007510 single base substitution T C downstream_gene_variant LIRI-JP 1 176007510 176007510 single base substitution T C intron_variant LIRI-JP 1 176007614 176007614 single base substitution T C downstream_gene_variant LIRI-JP 1 176007614 176007614 single base substitution T C intron_variant LIRI-JP 1 176008651 176008651 single base substitution A C downstream_gene_variant LIRI-JP 1 176008651 176008651 single base substitution A C intron_variant LIRI-JP 1 176009425 176009425 single base substitution T G downstream_gene_variant LIRI-JP 1 176009425 176009425 single base substitution T G intron_variant LIRI-JP 1 176010728 176010728 single base substitution A C downstream_gene_variant LIRI-JP 1 176010728 176010728 single base substitution A C intron_variant LIRI-JP 1 176015479 176015479 single base substitution T C intron_variant LIRI-JP 1 176015546 176015546 single base substitution T C intron_variant LIRI-JP 1 176015914 176015914 single base substitution T C intron_variant LIRI-JP 1 176016298 176016298 single base substitution T C intron_variant LIRI-JP 1 176019674 176019674 single base substitution T C intron_variant LIRI-JP 1 176020291 176020291 single base substitution T C intron_variant LIRI-JP 1 176023205 176023205 single base substitution C T intron_variant LIRI-JP 1 176024478 176024478 single base substitution G A intron_variant LIRI-JP 1 176024583 176024583 single base substitution A T intron_variant LIRI-JP 1 176028505 176028505 deletion of <=200bp G - intron_variant LIRI-JP 1 176028918 176028918 single base substitution A C intron_variant LIRI-JP 1 176030080 176030080 insertion of <=200bp - C intron_variant LIRI-JP 1 176030147 176030147 single base substitution T C intron_variant LIRI-JP 1 176030536 176030536 single base substitution G A intron_variant LIRI-JP 1 176030972 176030972 single base substitution C A intron_variant LIRI-JP 1 176031267 176031267 single base substitution G T intron_variant LIRI-JP 1 176033328 176033328 single base substitution T C intron_variant LIRI-JP 1 176033875 176033875 single base substitution G T intron_variant LIRI-JP 1 176034301 176034301 single base substitution T A intron_variant LIRI-JP 1 176035656 176035656 single base substitution T C intron_variant LIRI-JP 1 176036017 176036028 deletion of <=200bp CCGCCCTTGGAA - intron_variant LIRI-JP 1 176036108 176036108 single base substitution C T intron_variant LIRI-JP 1 176036299 176036299 single base substitution T C intron_variant LIRI-JP 1 176036825 176036825 single base substitution T C intron_variant LIRI-JP 1 176039645 176039645 single base substitution A T intron_variant LIRI-JP 1 176040449 176040449 single base substitution A G intron_variant LIRI-JP 1 176040590 176040590 single base substitution C T intron_variant LIRI-JP 1 176040818 176040818 single base substitution T G intron_variant LIRI-JP 1 176041349 176041349 single base substitution T C intron_variant LIRI-JP 1 176041902 176041902 single base substitution T A intron_variant LIRI-JP 1 176044236 176044236 single base substitution G T intron_variant LIRI-JP 1 176046046 176046046 single base substitution T G intron_variant LIRI-JP 1 176048967 176048967 single base substitution T A intron_variant LIRI-JP 1 176049104 176049104 single base substitution G C intron_variant LIRI-JP 1 176050196 176050196 single base substitution C A downstream_gene_variant LIRI-JP 1 176050196 176050196 single base substitution C A intron_variant LIRI-JP 1 176052027 176052027 single base substitution T G downstream_gene_variant LIRI-JP 1 176052027 176052027 single base substitution T G intron_variant LIRI-JP 1 176052027 176052027 single base substitution T G upstream_gene_variant LIRI-JP 1 176053293 176053293 single base substitution G C downstream_gene_variant LIRI-JP 1 176053293 176053293 single base substitution G C intron_variant LIRI-JP 1 176053293 176053293 single base substitution G C upstream_gene_variant LIRI-JP 1 176053408 176053408 single base substitution T C downstream_gene_variant LIRI-JP 1 176053408 176053408 single base substitution T C intron_variant LIRI-JP 1 176053408 176053408 single base substitution T C upstream_gene_variant LIRI-JP 1 176055327 176055327 single base substitution T A intron_variant LIRI-JP 1 176055327 176055327 single base substitution T A upstream_gene_variant LIRI-JP 1 176056755 176056755 single base substitution G C intron_variant LIRI-JP 1 176056896 176056896 single base substitution T A intron_variant LIRI-JP 1 176058504 176058504 single base substitution T C intron_variant LIRI-JP 1 176058785 176058785 single base substitution G A intron_variant LIRI-JP 1 176060060 176060060 single base substitution A G intron_variant LIRI-JP 1 176061943 176061943 single base substitution T C intron_variant LIRI-JP 1 176063569 176063569 single base substitution T C intron_variant LIRI-JP 1 176068138 176068138 single base substitution G A intron_variant LIRI-JP 1 176070005 176070005 single base substitution C T intron_variant LIRI-JP 1 176070176 176070176 single base substitution G A intron_variant LIRI-JP 1 176070388 176070388 single base substitution G A intron_variant LIRI-JP 1 176070987 176070987 single base substitution T A intron_variant LIRI-JP 1 176071382 176071382 single base substitution G C intron_variant LIRI-JP 1 176073683 176073683 single base substitution T C intron_variant LIRI-JP 1 176075204 176075204 single base substitution C A intron_variant LIRI-JP 1 176075311 176075311 single base substitution C T intron_variant LIRI-JP 1 176077309 176077309 single base substitution A G intron_variant LIRI-JP 1 176078141 176078141 single base substitution G A intron_variant LIRI-JP 1 176078239 176078239 single base substitution T C intron_variant LIRI-JP 1 176082377 176082377 single base substitution T C downstream_gene_variant LIRI-JP 1 176082377 176082377 single base substitution T C intron_variant LIRI-JP 1 176084709 176084709 single base substitution C A downstream_gene_variant LIRI-JP 1 176084709 176084709 single base substitution C A intron_variant LIRI-JP 1 176087461 176087461 single base substitution T C intron_variant LIRI-JP 1 176088917 176088917 single base substitution T C intron_variant LIRI-JP 1 176092054 176092054 single base substitution C T intron_variant LIRI-JP 1 176093761 176093761 single base substitution A G intron_variant LIRI-JP 1 176093986 176093986 single base substitution T C intron_variant LIRI-JP 1 176094634 176094634 single base substitution T A intron_variant LIRI-JP 1 176094999 176094999 single base substitution T A intron_variant LIRI-JP 1 176096288 176096288 single base substitution C A intron_variant LIRI-JP 1 176096391 176096391 single base substitution T C intron_variant LIRI-JP 1 176098743 176098743 single base substitution C A intron_variant LIRI-JP 1 176100257 176100257 single base substitution C A downstream_gene_variant LIRI-JP 1 176100257 176100257 single base substitution C A intron_variant LIRI-JP 1 176100465 176100465 single base substitution T C downstream_gene_variant LIRI-JP 1 176100465 176100465 single base substitution T C intron_variant LIRI-JP 1 176100763 176100763 single base substitution A C downstream_gene_variant LIRI-JP 1 176100763 176100763 single base substitution A C intron_variant LIRI-JP 1 176103436 176103436 single base substitution A G downstream_gene_variant LIRI-JP 1 176103436 176103436 single base substitution A G intron_variant LIRI-JP 1 176103450 176103450 single base substitution T C downstream_gene_variant LIRI-JP 1 176103450 176103450 single base substitution T C intron_variant LIRI-JP 1 176103502 176103502 single base substitution T C downstream_gene_variant LIRI-JP 1 176103502 176103502 single base substitution T C intron_variant LIRI-JP 1 176105224 176105224 single base substitution T C intron_variant LIRI-JP 1 176105224 176105224 single base substitution T C upstream_gene_variant LIRI-JP 1 176106849 176106849 single base substitution A G intron_variant LIRI-JP 1 176106849 176106849 single base substitution A G upstream_gene_variant LIRI-JP 1 176108543 176108543 single base substitution T C intron_variant LIRI-JP 1 176108543 176108543 single base substitution T C upstream_gene_variant LIRI-JP 1 176111878 176111878 single base substitution T C intron_variant LIRI-JP 1 176112017 176112017 single base substitution T C intron_variant LIRI-JP 1 176113462 176113462 single base substitution A C intron_variant LIRI-JP 1 176113510 176113510 single base substitution T C intron_variant LIRI-JP 1 176113519 176113519 single base substitution A C intron_variant LIRI-JP 1 176113725 176113725 single base substitution G A intron_variant LIRI-JP 1 176113767 176113767 single base substitution C T intron_variant LIRI-JP 1 176114874 176114874 single base substitution T C intron_variant LIRI-JP 1 176117285 176117285 single base substitution C T intron_variant LIRI-JP 1 176118342 176118342 single base substitution C A intron_variant LIRI-JP 1 176118731 176118731 single base substitution T C intron_variant LIRI-JP 1 176120899 176120899 single base substitution G A intron_variant LIRI-JP 1 176126483 176126483 single base substitution T C intron_variant LIRI-JP 1 176127357 176127357 single base substitution T C intron_variant LIRI-JP 1 176129201 176129201 single base substitution C T intron_variant LIRI-JP 1 176132327 176132327 single base substitution A G intron_variant LIRI-JP 1 176132579 176132579 single base substitution A G intron_variant LIRI-JP 1 176133097 176133097 single base substitution G A intron_variant LIRI-JP 1 176134198 176134201 deletion of <=200bp AACA - intron_variant LIRI-JP 1 176135361 176135361 single base substitution C A intron_variant LIRI-JP 1 176135864 176135864 single base substitution G A intron_variant LIRI-JP 1 176136039 176136039 single base substitution C T intron_variant LIRI-JP 1 176136160 176136160 single base substitution C G intron_variant LIRI-JP 1 176137172 176137173 deletion of <=200bp AG - intron_variant LIRI-JP 1 176137771 176137771 single base substitution G A intron_variant LIRI-JP 1 176138253 176138253 single base substitution C A intron_variant LIRI-JP 1 176139065 176139065 single base substitution T C intron_variant LIRI-JP 1 176140422 176140422 single base substitution T C intron_variant LIRI-JP 1 176140579 176140579 single base substitution T G intron_variant LIRI-JP 1 176140775 176140775 single base substitution G C intron_variant LIRI-JP 1 176141086 176141086 single base substitution T C intron_variant LIRI-JP 1 176141218 176141218 single base substitution T C intron_variant LIRI-JP 1 176142535 176142535 single base substitution G A intron_variant LIRI-JP 1 176142726 176142726 single base substitution T C intron_variant LIRI-JP 1 176144402 176144402 single base substitution T C intron_variant LIRI-JP 1 176145482 176145482 single base substitution T C intron_variant LIRI-JP 1 176145520 176145520 single base substitution T A intron_variant LIRI-JP 1 176145629 176145629 single base substitution T C intron_variant LIRI-JP 1 176148734 176148734 single base substitution G C intron_variant LIRI-JP 1 176150460 176150460 single base substitution T C intron_variant LIRI-JP 1 176151064 176151064 single base substitution C G intron_variant LIRI-JP 1 176151623 176151623 single base substitution G T intron_variant LIRI-JP 1 176152249 176152249 single base substitution T C intron_variant LIRI-JP 1 176153279 176153279 single base substitution A C intron_variant LIRI-JP 1 176154016 176154016 single base substitution T C intron_variant LIRI-JP 1 176154016 176154016 single base substitution T C upstream_gene_variant LIRI-JP 1 176155147 176155147 single base substitution T C intron_variant LIRI-JP 1 176155147 176155147 single base substitution T C upstream_gene_variant LIRI-JP 1 176158726 176158726 single base substitution T C intron_variant LIRI-JP 1 176158726 176158726 single base substitution T C upstream_gene_variant LIRI-JP 1 176159918 176159918 single base substitution C T intron_variant LIRI-JP 1 176162343 176162343 single base substitution A T intron_variant LIRI-JP 1 176162897 176162897 single base substitution C A intron_variant LIRI-JP 1 176163301 176163301 single base substitution G A intron_variant LIRI-JP 1 176166553 176166553 single base substitution T A intron_variant LIRI-JP 1 176167263 176167263 single base substitution T C intron_variant LIRI-JP 1 176170514 176170514 single base substitution T C intron_variant LIRI-JP 1 176171575 176171575 single base substitution C A intron_variant LIRI-JP 1 176174074 176174074 single base substitution T C intron_variant LIRI-JP 1 176175369 176175369 single base substitution T G intron_variant LIRI-JP 1 176176937 176176937 single base substitution T A upstream_gene_variant LIRI-JP 1 176177013 176177013 single base substitution T C upstream_gene_variant LIRI-JP 1 176177069 176177069 single base substitution G C upstream_gene_variant LUSC-KR 1 175910400 175910400 single base substitution T A downstream_gene_variant LUSC-KR 1 175910522 175910522 single base substitution C A downstream_gene_variant LUSC-KR 1 175911398 175911398 single base substitution C G downstream_gene_variant LUSC-KR 1 175914791 175914791 single base substitution T C intron_variant LUSC-KR 1 175915140 175915140 single base substitution C T intron_variant LUSC-KR 1 175921135 175921135 single base substitution G A intron_variant LUSC-KR 1 175921135 175921135 single base substitution G A upstream_gene_variant LUSC-KR 1 175921413 175921413 single base substitution C A intron_variant LUSC-KR 1 175921413 175921413 single base substitution C A upstream_gene_variant LUSC-KR 1 175921947 175921947 single base substitution G A intron_variant LUSC-KR 1 175924919 175924919 single base substitution C A intron_variant LUSC-KR 1 175927099 175927099 single base substitution T A intron_variant LUSC-KR 1 175928066 175928066 single base substitution C A intron_variant LUSC-KR 1 175929811 175929811 single base substitution C G intron_variant LUSC-KR 1 175930429 175930429 single base substitution G A intron_variant LUSC-KR 1 175936031 175936031 single base substitution C A intron_variant LUSC-KR 1 175936032 175936032 single base substitution C A intron_variant LUSC-KR 1 175940331 175940331 single base substitution T C intron_variant LUSC-KR 1 175940520 175940520 single base substitution T C intron_variant LUSC-KR 1 175942123 175942123 single base substitution C A intron_variant LUSC-KR 1 175944201 175944201 single base substitution C A intron_variant LUSC-KR 1 175945588 175945588 single base substitution A T intron_variant LUSC-KR 1 175951170 175951170 single base substitution G C intron_variant LUSC-KR 1 175955026 175955026 single base substitution C A intron_variant LUSC-KR 1 175955612 175955612 single base substitution C A intron_variant LUSC-KR 1 175957638 175957638 single base substitution T C exon_variant LUSC-KR 1 175957638 175957638 single base substitution T C intron_variant LUSC-KR 1 175959680 175959680 single base substitution C G intron_variant LUSC-KR 1 175961818 175961818 single base substitution C A intron_variant LUSC-KR 1 175961882 175961882 single base substitution G A intron_variant LUSC-KR 1 175961956 175961956 single base substitution C A intron_variant LUSC-KR 1 175965397 175965397 single base substitution G A intron_variant LUSC-KR 1 175966405 175966405 single base substitution A C intron_variant LUSC-KR 1 175971683 175971683 single base substitution C T intron_variant LUSC-KR 1 175972146 175972146 single base substitution C T intron_variant LUSC-KR 1 175972166 175972166 single base substitution G C intron_variant LUSC-KR 1 175972231 175972231 single base substitution T C intron_variant LUSC-KR 1 175972496 175972496 single base substitution T C intron_variant LUSC-KR 1 175972554 175972554 single base substitution C A intron_variant LUSC-KR 1 175972555 175972555 single base substitution C A intron_variant LUSC-KR 1 175974837 175974837 single base substitution A G intron_variant LUSC-KR 1 175977430 175977430 single base substitution C A intron_variant LUSC-KR 1 175977744 175977744 single base substitution T A intron_variant LUSC-KR 1 175982040 175982040 single base substitution T C intron_variant LUSC-KR 1 175982672 175982672 single base substitution C T intron_variant LUSC-KR 1 175983173 175983173 single base substitution C T intron_variant LUSC-KR 1 175983873 175983873 single base substitution T A intron_variant LUSC-KR 1 175988320 175988320 single base substitution G C intron_variant LUSC-KR 1 175989080 175989080 single base substitution T C intron_variant LUSC-KR 1 175989401 175989401 single base substitution C A intron_variant LUSC-KR 1 175990101 175990101 single base substitution C T intron_variant LUSC-KR 1 175990191 175990191 single base substitution C A intron_variant LUSC-KR 1 175992835 175992835 single base substitution C A intron_variant LUSC-KR 1 175995402 175995402 single base substitution C A intron_variant LUSC-KR 1 176000244 176000244 single base substitution C A intron_variant LUSC-KR 1 176010026 176010026 single base substitution G A downstream_gene_variant LUSC-KR 1 176010026 176010026 single base substitution G A intron_variant LUSC-KR 1 176011828 176011828 single base substitution C T downstream_gene_variant LUSC-KR 1 176011828 176011828 single base substitution C T intron_variant LUSC-KR 1 176012946 176012946 single base substitution C A 3_prime_UTR_variant LUSC-KR 1 176012946 176012946 single base substitution C A missense_variant S196I 587G>T LUSC-KR 1 176012946 176012946 single base substitution C A missense_variant S312I 935G>T LUSC-KR 1 176012946 176012946 single base substitution C A missense_variant S453I 1358G>T LUSC-KR 1 176012946 176012946 single base substitution C A missense_variant S477I 1430G>T LUSC-KR 1 176012946 176012946 single base substitution C A splice_region_variant LUSC-KR 1 176016690 176016690 single base substitution G A intron_variant LUSC-KR 1 176016729 176016729 single base substitution C A intron_variant LUSC-KR 1 176018778 176018778 single base substitution C T intron_variant LUSC-KR 1 176020329 176020329 single base substitution C A intron_variant LUSC-KR 1 176021455 176021455 single base substitution C T intron_variant LUSC-KR 1 176023916 176023916 single base substitution G A intron_variant LUSC-KR 1 176024086 176024086 single base substitution G A intron_variant LUSC-KR 1 176024902 176024902 single base substitution T A intron_variant LUSC-KR 1 176026280 176026280 single base substitution T C intron_variant LUSC-KR 1 176027294 176027294 single base substitution C A intron_variant LUSC-KR 1 176033344 176033344 single base substitution A G intron_variant LUSC-KR 1 176034181 176034181 single base substitution A C intron_variant LUSC-KR 1 176034491 176034491 single base substitution C A intron_variant LUSC-KR 1 176035623 176035623 single base substitution T A intron_variant LUSC-KR 1 176043800 176043800 single base substitution A T intron_variant LUSC-KR 1 176054510 176054510 single base substitution G A downstream_gene_variant LUSC-KR 1 176054510 176054510 single base substitution G A intron_variant LUSC-KR 1 176054510 176054510 single base substitution G A upstream_gene_variant LUSC-KR 1 176062752 176062752 single base substitution G T intron_variant LUSC-KR 1 176065508 176065508 single base substitution C T intron_variant LUSC-KR 1 176066938 176066938 single base substitution G T intron_variant LUSC-KR 1 176073155 176073155 single base substitution C G intron_variant LUSC-KR 1 176075527 176075527 single base substitution C G intron_variant LUSC-KR 1 176075943 176075943 single base substitution C G intron_variant LUSC-KR 1 176077285 176077285 single base substitution T G intron_variant LUSC-KR 1 176083995 176083995 single base substitution A G downstream_gene_variant LUSC-KR 1 176083995 176083995 single base substitution A G intron_variant LUSC-KR 1 176087672 176087672 single base substitution G A intron_variant LUSC-KR 1 176090652 176090652 single base substitution T G intron_variant LUSC-KR 1 176092012 176092012 single base substitution G C intron_variant LUSC-KR 1 176096749 176096749 single base substitution G A intron_variant LUSC-KR 1 176101177 176101177 single base substitution T C downstream_gene_variant LUSC-KR 1 176101177 176101177 single base substitution T C intron_variant LUSC-KR 1 176101453 176101453 single base substitution G A downstream_gene_variant LUSC-KR 1 176101453 176101453 single base substitution G A intron_variant LUSC-KR 1 176101541 176101541 single base substitution C G downstream_gene_variant LUSC-KR 1 176101541 176101541 single base substitution C G intron_variant LUSC-KR 1 176104224 176104224 single base substitution T C splice_acceptor_variant LUSC-KR 1 176104224 176104224 single base substitution T C upstream_gene_variant LUSC-KR 1 176104332 176104332 single base substitution T A intron_variant LUSC-KR 1 176104332 176104332 single base substitution T A upstream_gene_variant LUSC-KR 1 176104578 176104578 single base substitution G C intron_variant LUSC-KR 1 176104578 176104578 single base substitution G C upstream_gene_variant LUSC-KR 1 176105631 176105631 single base substitution C G 3_prime_UTR_variant LUSC-KR 1 176105631 176105631 single base substitution C G intron_variant LUSC-KR 1 176105631 176105631 single base substitution C G missense_variant R295T 884G>C LUSC-KR 1 176105631 176105631 single base substitution C G upstream_gene_variant LUSC-KR 1 176111180 176111180 single base substitution A C intron_variant LUSC-KR 1 176112275 176112275 single base substitution C A intron_variant LUSC-KR 1 176115591 176115591 single base substitution G A intron_variant LUSC-KR 1 176117182 176117182 single base substitution T A intron_variant LUSC-KR 1 176117707 176117707 single base substitution C A intron_variant LUSC-KR 1 176118219 176118219 single base substitution G A intron_variant LUSC-KR 1 176118935 176118935 single base substitution A T intron_variant LUSC-KR 1 176119728 176119728 single base substitution G T intron_variant LUSC-KR 1 176121258 176121258 single base substitution C A intron_variant LUSC-KR 1 176122016 176122016 single base substitution T A intron_variant LUSC-KR 1 176122623 176122623 single base substitution G A intron_variant LUSC-KR 1 176131483 176131483 single base substitution T C intron_variant LUSC-KR 1 176134408 176134408 single base substitution G A intron_variant LUSC-KR 1 176136204 176136204 single base substitution G A intron_variant LUSC-KR 1 176136525 176136525 single base substitution T A intron_variant LUSC-KR 1 176138484 176138484 single base substitution T C intron_variant LUSC-KR 1 176138532 176138532 single base substitution T A intron_variant LUSC-KR 1 176139134 176139134 single base substitution T C intron_variant LUSC-KR 1 176139153 176139153 single base substitution T C intron_variant LUSC-KR 1 176142460 176142460 single base substitution G A intron_variant LUSC-KR 1 176143716 176143716 single base substitution A G intron_variant LUSC-KR 1 176146235 176146235 single base substitution A C intron_variant LUSC-KR 1 176150736 176150736 single base substitution T C intron_variant LUSC-KR 1 176153677 176153677 single base substitution G A intron_variant LUSC-KR 1 176158661 176158661 single base substitution T C intron_variant LUSC-KR 1 176158661 176158661 single base substitution T C upstream_gene_variant LUSC-KR 1 176161458 176161458 single base substitution C A intron_variant LUSC-KR 1 176164210 176164210 single base substitution G A intron_variant LUSC-KR 1 176170427 176170427 single base substitution C A intron_variant LUSC-KR 1 176173935 176173935 single base substitution C A intron_variant LUSC-KR 1 176177332 176177332 single base substitution G A upstream_gene_variant LUSC-KR 1 176177347 176177347 single base substitution G C upstream_gene_variant LUSC-KR 1 176177560 176177560 single base substitution C T upstream_gene_variant LUSC-KR 1 176180759 176180759 single base substitution A C upstream_gene_variant LUSC-US 1 175916338 175916338 single base substitution G A 3_prime_UTR_variant LUSC-US 1 175916338 175916338 single base substitution G A exon_variant LUSC-US 1 175916338 175916338 single base substitution G A missense_variant T559I 1676C>T LUSC-US 1 175916338 175916338 single base substitution G A missense_variant T700I 2099C>T LUSC-US 1 175916338 175916338 single base substitution G A missense_variant T724I 2171C>T LUSC-US 1 175956108 175956108 single base substitution C G 3_prime_UTR_variant LUSC-US 1 175956108 175956108 single base substitution C G exon_variant LUSC-US 1 175956108 175956108 single base substitution C G missense_variant A537P 1609G>C LUSC-US 1 175956108 175956108 single base substitution C G missense_variant A678P 2032G>C LUSC-US 1 175956108 175956108 single base substitution C G missense_variant A702P 2104G>C LUSC-US 1 175958605 175958605 single base substitution G C 3_prime_UTR_variant LUSC-US 1 175958605 175958605 single base substitution G C exon_variant LUSC-US 1 175958605 175958605 single base substitution G C synonymous_variant V415V 1245C>G LUSC-US 1 175958605 175958605 single base substitution G C synonymous_variant V556V 1668C>G LUSC-US 1 175958605 175958605 single base substitution G C synonymous_variant V580V 1740C>G LUSC-US 1 176012899 176012899 single base substitution C A 3_prime_UTR_variant LUSC-US 1 176012899 176012899 single base substitution C A intron_variant LUSC-US 1 176012899 176012899 single base substitution C A missense_variant G212C 634G>T LUSC-US 1 176012899 176012899 single base substitution C A missense_variant G328C 982G>T LUSC-US 1 176012899 176012899 single base substitution C A missense_variant G469C 1405G>T LUSC-US 1 176012899 176012899 single base substitution C A missense_variant G493C 1477G>T LUSC-US 1 176132955 176132955 single base substitution C T 3_prime_UTR_variant LUSC-US 1 176132955 176132955 single base substitution C T intron_variant LUSC-US 1 176132955 176132955 single base substitution C T missense_variant S213N 638G>A LUSC-US 1 176132955 176132955 single base substitution C T missense_variant S68N 203G>A LUSC-US 1 176132955 176132955 single base substitution C T missense_variant S72N 215G>A LUSC-US 1 176132955 176132955 single base substitution C T splice_region_variant LUSC-US 1 176133017 176133017 single base substitution G T 3_prime_UTR_variant LUSC-US 1 176133017 176133017 single base substitution G T intron_variant LUSC-US 1 176133017 176133017 single base substitution G T synonymous_variant L192L 576C>A LUSC-US 1 176133017 176133017 single base substitution G T synonymous_variant L47L 141C>A LUSC-US 1 176133017 176133017 single base substitution G T synonymous_variant L51L 153C>A LUSC-US 1 176153775 176153775 single base substitution C T exon_variant LUSC-US 1 176153775 176153775 single base substitution C T missense_variant S13N 38G>A LUSC-US 1 176153775 176153775 single base substitution C T missense_variant S154N 461G>A LUSC-US 1 176153775 176153775 single base substitution C T missense_variant S9N 26G>A MALY-DE 1 175910342 175910342 single base substitution T C downstream_gene_variant MALY-DE 1 175910593 175910593 single base substitution A G downstream_gene_variant MALY-DE 1 175913239 175913239 single base substitution A T downstream_gene_variant MALY-DE 1 175914078 175914078 single base substitution A T 3_prime_UTR_variant MALY-DE 1 175914078 175914078 single base substitution A T downstream_gene_variant MALY-DE 1 175914078 175914078 single base substitution A T exon_variant MALY-DE 1 175918688 175918688 single base substitution A T intron_variant MALY-DE 1 175918688 175918688 single base substitution A T upstream_gene_variant MALY-DE 1 175923367 175923367 single base substitution G T intron_variant MALY-DE 1 175924067 175924067 single base substitution T A intron_variant MALY-DE 1 175948453 175948453 single base substitution A C intron_variant MALY-DE 1 175957456 175957456 single base substitution C T 3_prime_UTR_variant MALY-DE 1 175957456 175957456 single base substitution C T exon_variant MALY-DE 1 175957456 175957456 single base substitution C T missense_variant G482D 1445G>A MALY-DE 1 175957456 175957456 single base substitution C T missense_variant G623D 1868G>A MALY-DE 1 175957456 175957456 single base substitution C T missense_variant G647D 1940G>A MALY-DE 1 175960149 175960149 single base substitution A T intron_variant MALY-DE 1 175967629 175967629 insertion of <=200bp - A intron_variant MALY-DE 1 175969307 175969307 single base substitution T G intron_variant MALY-DE 1 175970813 175970813 single base substitution G T intron_variant MALY-DE 1 175979303 175979304 deletion of <=200bp TC - intron_variant MALY-DE 1 175990877 175990877 single base substitution C T intron_variant MALY-DE 1 175994534 175994534 single base substitution T G intron_variant MALY-DE 1 175997833 175997846 deletion of <=200bp ATATATATATATAT - intron_variant MALY-DE 1 176002024 176002024 single base substitution T C intron_variant MALY-DE 1 176006902 176006902 single base substitution A G intron_variant MALY-DE 1 176009786 176009786 single base substitution T C downstream_gene_variant MALY-DE 1 176009786 176009786 single base substitution T C intron_variant MALY-DE 1 176014786 176014786 single base substitution A G intron_variant MALY-DE 1 176025648 176025649 deletion of <=200bp GT - intron_variant MALY-DE 1 176026006 176026006 single base substitution A T intron_variant MALY-DE 1 176026014 176026014 single base substitution A C intron_variant MALY-DE 1 176030482 176030482 single base substitution G A intron_variant MALY-DE 1 176034226 176034226 single base substitution T C intron_variant MALY-DE 1 176048039 176048039 single base substitution C G intron_variant MALY-DE 1 176050460 176050460 single base substitution A G downstream_gene_variant MALY-DE 1 176050460 176050460 single base substitution A G intron_variant MALY-DE 1 176050460 176050460 single base substitution A G upstream_gene_variant MALY-DE 1 176053996 176053996 single base substitution T C downstream_gene_variant MALY-DE 1 176053996 176053996 single base substitution T C intron_variant MALY-DE 1 176053996 176053996 single base substitution T C upstream_gene_variant MALY-DE 1 176068707 176068707 single base substitution T C intron_variant MALY-DE 1 176069429 176069429 single base substitution G C intron_variant MALY-DE 1 176083525 176083525 single base substitution A G downstream_gene_variant MALY-DE 1 176083525 176083525 single base substitution A G intron_variant MALY-DE 1 176084844 176084844 single base substitution T G downstream_gene_variant MALY-DE 1 176084844 176084844 single base substitution T G intron_variant MALY-DE 1 176089882 176089882 single base substitution T A intron_variant MALY-DE 1 176090109 176090109 single base substitution T C intron_variant MALY-DE 1 176094213 176094213 single base substitution T G intron_variant MALY-DE 1 176096385 176096387 deletion of <=200bp TTA - intron_variant MALY-DE 1 176098581 176098581 single base substitution A T intron_variant MALY-DE 1 176103691 176103691 single base substitution T A downstream_gene_variant MALY-DE 1 176103691 176103691 single base substitution T A intron_variant MALY-DE 1 176105371 176105371 single base substitution C T intron_variant MALY-DE 1 176105371 176105371 single base substitution C T upstream_gene_variant MALY-DE 1 176110347 176110347 single base substitution A G intron_variant MALY-DE 1 176110486 176110486 single base substitution A G intron_variant MALY-DE 1 176110558 176110558 single base substitution A G intron_variant MALY-DE 1 176110675 176110675 single base substitution A C intron_variant MALY-DE 1 176111512 176111512 single base substitution A G intron_variant MALY-DE 1 176116512 176116512 single base substitution G A intron_variant MALY-DE 1 176116820 176116820 single base substitution G T intron_variant MALY-DE 1 176120367 176120367 single base substitution G T intron_variant MALY-DE 1 176121730 176121730 single base substitution C T intron_variant MALY-DE 1 176121774 176121774 single base substitution G A intron_variant MALY-DE 1 176123462 176123462 single base substitution G C intron_variant MALY-DE 1 176128850 176128850 single base substitution C T intron_variant MALY-DE 1 176134973 176134973 single base substitution G C intron_variant MALY-DE 1 176140153 176140153 single base substitution C T intron_variant MALY-DE 1 176143144 176143144 insertion of <=200bp - AAG intron_variant MALY-DE 1 176143912 176143912 single base substitution T A intron_variant MALY-DE 1 176153863 176153863 single base substitution A T intron_variant MALY-DE 1 176153863 176153863 single base substitution A T upstream_gene_variant MALY-DE 1 176156787 176156787 single base substitution G C intron_variant MALY-DE 1 176156787 176156787 single base substitution G C upstream_gene_variant MALY-DE 1 176159307 176159307 single base substitution G A intron_variant MALY-DE 1 176166555 176166555 insertion of <=200bp - A intron_variant MALY-DE 1 176168198 176168198 single base substitution A G intron_variant MALY-DE 1 176172475 176172475 single base substitution A C intron_variant MALY-DE 1 176179870 176179870 single base substitution G T upstream_gene_variant MALY-DE 1 176181526 176181535 deletion of <=200bp AAAAAAAAAA - upstream_gene_variant MELA-AU 1 175909237 175909237 single base substitution G A downstream_gene_variant MELA-AU 1 175911197 175911198 multiple base substitution (>=2bp and <=200bp) GG AT downstream_gene_variant MELA-AU 1 175911330 175911330 single base substitution G A downstream_gene_variant MELA-AU 1 175912883 175912883 single base substitution T A downstream_gene_variant MELA-AU 1 175913157 175913157 single base substitution A G downstream_gene_variant MELA-AU 1 175914072 175914072 single base substitution G A 3_prime_UTR_variant MELA-AU 1 175914072 175914072 single base substitution G A downstream_gene_variant MELA-AU 1 175914072 175914072 single base substitution G A exon_variant MELA-AU 1 175914135 175914135 single base substitution G A 3_prime_UTR_variant MELA-AU 1 175914135 175914135 single base substitution G A downstream_gene_variant MELA-AU 1 175914135 175914135 single base substitution G A exon_variant MELA-AU 1 175914575 175914575 single base substitution G A intron_variant MELA-AU 1 175915077 175915077 single base substitution G A intron_variant MELA-AU 1 175915445 175915445 single base substitution T A intron_variant MELA-AU 1 175915906 175915906 single base substitution G A intron_variant MELA-AU 1 175916270 175916270 single base substitution A T intron_variant MELA-AU 1 175916305 175916305 single base substitution A T intron_variant MELA-AU 1 175917111 175917111 single base substitution G A intron_variant MELA-AU 1 175917111 175917111 single base substitution G A upstream_gene_variant MELA-AU 1 175918450 175918450 single base substitution G A intron_variant MELA-AU 1 175918450 175918450 single base substitution G A upstream_gene_variant MELA-AU 1 175918469 175918469 single base substitution G A intron_variant MELA-AU 1 175918469 175918469 single base substitution G A upstream_gene_variant MELA-AU 1 175918533 175918533 single base substitution T C intron_variant MELA-AU 1 175918533 175918533 single base substitution T C upstream_gene_variant MELA-AU 1 175919374 175919374 single base substitution G A intron_variant MELA-AU 1 175919374 175919374 single base substitution G A upstream_gene_variant MELA-AU 1 175919465 175919465 single base substitution A G intron_variant MELA-AU 1 175919465 175919465 single base substitution A G upstream_gene_variant MELA-AU 1 175919699 175919699 single base substitution G A intron_variant MELA-AU 1 175919699 175919699 single base substitution G A upstream_gene_variant MELA-AU 1 175919860 175919860 deletion of <=200bp T - intron_variant MELA-AU 1 175919860 175919860 deletion of <=200bp T - upstream_gene_variant MELA-AU 1 175920450 175920450 single base substitution G A intron_variant MELA-AU 1 175920450 175920450 single base substitution G A upstream_gene_variant MELA-AU 1 175921479 175921479 single base substitution A G intron_variant MELA-AU 1 175921537 175921537 single base substitution G A intron_variant MELA-AU 1 175922717 175922717 single base substitution G A intron_variant MELA-AU 1 175922744 175922744 single base substitution G A intron_variant MELA-AU 1 175923283 175923283 single base substitution G A intron_variant MELA-AU 1 175924355 175924355 single base substitution G A intron_variant MELA-AU 1 175925190 175925190 single base substitution G A intron_variant MELA-AU 1 175925879 175925879 single base substitution A G intron_variant MELA-AU 1 175926274 175926274 single base substitution G A intron_variant MELA-AU 1 175926513 175926513 single base substitution C T intron_variant MELA-AU 1 175926746 175926746 single base substitution G A intron_variant MELA-AU 1 175926970 175926970 single base substitution G A intron_variant MELA-AU 1 175926987 175926987 single base substitution G A intron_variant MELA-AU 1 175927159 175927159 single base substitution G A intron_variant MELA-AU 1 175927504 175927504 single base substitution A G intron_variant MELA-AU 1 175927950 175927951 deletion of <=200bp AA - intron_variant MELA-AU 1 175928074 175928074 single base substitution G A intron_variant MELA-AU 1 175928694 175928694 single base substitution G A intron_variant MELA-AU 1 175928779 175928779 single base substitution C T intron_variant MELA-AU 1 175928781 175928781 single base substitution T C intron_variant MELA-AU 1 175929015 175929015 single base substitution G A intron_variant MELA-AU 1 175929744 175929745 deletion of <=200bp TG - intron_variant MELA-AU 1 175930064 175930064 single base substitution G A intron_variant MELA-AU 1 175930156 175930156 single base substitution C T intron_variant MELA-AU 1 175930183 175930184 multiple base substitution (>=2bp and <=200bp) GG AA intron_variant MELA-AU 1 175930232 175930232 single base substitution T C intron_variant MELA-AU 1 175930457 175930457 single base substitution G A intron_variant MELA-AU 1 175930611 175930611 single base substitution G A intron_variant MELA-AU 1 175930663 175930663 single base substitution G A intron_variant MELA-AU 1 175931125 175931125 single base substitution G A intron_variant MELA-AU 1 175931583 175931583 single base substitution A G intron_variant MELA-AU 1 175931987 175931987 single base substitution C T intron_variant MELA-AU 1 175932471 175932471 single base substitution C T intron_variant MELA-AU 1 175933075 175933075 single base substitution A G intron_variant MELA-AU 1 175935082 175935082 single base substitution C T intron_variant MELA-AU 1 175935442 175935442 single base substitution C A intron_variant MELA-AU 1 175936554 175936554 single base substitution A C intron_variant MELA-AU 1 175936754 175936754 single base substitution A G intron_variant MELA-AU 1 175936985 175936985 single base substitution C T intron_variant MELA-AU 1 175937114 175937114 single base substitution C T intron_variant MELA-AU 1 175937264 175937265 multiple base substitution (>=2bp and <=200bp) CC TT intron_variant MELA-AU 1 175937551 175937551 single base substitution G A intron_variant MELA-AU 1 175938162 175938162 single base substitution C T intron_variant MELA-AU 1 175938515 175938515 single base substitution G T intron_variant MELA-AU 1 175939495 175939495 single base substitution G A intron_variant MELA-AU 1 175939508 175939508 single base substitution G C intron_variant MELA-AU 1 175939585 175939585 single base substitution G A intron_variant MELA-AU 1 175939641 175939641 single base substitution T C intron_variant MELA-AU 1 175939833 175939833 single base substitution G A intron_variant MELA-AU 1 175940222 175940222 single base substitution G A intron_variant MELA-AU 1 175941463 175941463 single base substitution G A intron_variant MELA-AU 1 175941536 175941536 single base substitution G A intron_variant MELA-AU 1 175941650 175941650 single base substitution G A intron_variant MELA-AU 1 175941980 175941980 single base substitution T A intron_variant MELA-AU 1 175942018 175942018 single base substitution G A intron_variant MELA-AU 1 175942674 175942674 single base substitution G A intron_variant MELA-AU 1 175943997 175943997 single base substitution G T intron_variant MELA-AU 1 175944035 175944035 single base substitution G A intron_variant MELA-AU 1 175944181 175944181 single base substitution G A intron_variant MELA-AU 1 175944480 175944480 single base substitution G A intron_variant MELA-AU 1 175944609 175944609 single base substitution G A intron_variant MELA-AU 1 175945143 175945143 single base substitution G A intron_variant MELA-AU 1 175945604 175945604 single base substitution G A intron_variant MELA-AU 1 175946206 175946206 single base substitution G A intron_variant MELA-AU 1 175946421 175946421 single base substitution C T intron_variant MELA-AU 1 175946994 175946994 single base substitution C T intron_variant MELA-AU 1 175947254 175947254 single base substitution C T intron_variant MELA-AU 1 175947447 175947447 single base substitution G A intron_variant MELA-AU 1 175947836 175947836 single base substitution G A intron_variant MELA-AU 1 175948291 175948291 single base substitution G A intron_variant MELA-AU 1 175948327 175948327 single base substitution C A intron_variant MELA-AU 1 175948449 175948449 single base substitution T C intron_variant MELA-AU 1 175949015 175949015 single base substitution G A intron_variant MELA-AU 1 175949699 175949699 single base substitution G A intron_variant MELA-AU 1 175950170 175950170 single base substitution G A intron_variant MELA-AU 1 175950827 175950827 single base substitution G A intron_variant MELA-AU 1 175951015 175951015 single base substitution G A intron_variant MELA-AU 1 175951020 175951020 single base substitution A T intron_variant MELA-AU 1 175951118 175951118 single base substitution G A intron_variant MELA-AU 1 175951407 175951407 single base substitution G A intron_variant MELA-AU 1 175951783 175951783 single base substitution G A intron_variant MELA-AU 1 175951851 175951851 single base substitution G A intron_variant MELA-AU 1 175952007 175952007 single base substitution G A intron_variant MELA-AU 1 175952013 175952013 single base substitution G A intron_variant MELA-AU 1 175952299 175952299 single base substitution G A intron_variant MELA-AU 1 175952549 175952549 single base substitution G A intron_variant MELA-AU 1 175952916 175952916 single base substitution G A intron_variant MELA-AU 1 175952968 175952968 single base substitution G C intron_variant MELA-AU 1 175952980 175952980 single base substitution T A intron_variant MELA-AU 1 175953278 175953278 single base substitution A T intron_variant MELA-AU 1 175953388 175953388 single base substitution G A intron_variant MELA-AU 1 175953429 175953429 single base substitution A G intron_variant MELA-AU 1 175953823 175953823 single base substitution G A intron_variant MELA-AU 1 175954094 175954094 single base substitution G A intron_variant MELA-AU 1 175954346 175954346 single base substitution C T intron_variant MELA-AU 1 175954483 175954483 single base substitution A T intron_variant MELA-AU 1 175954657 175954657 single base substitution G A intron_variant MELA-AU 1 175954700 175954700 single base substitution G A intron_variant MELA-AU 1 175955276 175955276 single base substitution C T intron_variant MELA-AU 1 175955482 175955482 single base substitution G A intron_variant MELA-AU 1 175955647 175955647 single base substitution G A intron_variant MELA-AU 1 175955786 175955786 single base substitution G A intron_variant MELA-AU 1 175955829 175955829 single base substitution A C intron_variant MELA-AU 1 175956660 175956660 single base substitution T C intron_variant MELA-AU 1 175957272 175957272 single base substitution G A intron_variant MELA-AU 1 175957446 175957446 single base substitution G A 3_prime_UTR_variant MELA-AU 1 175957446 175957446 single base substitution G A exon_variant MELA-AU 1 175957446 175957446 single base substitution G A synonymous_variant S485S 1455C>T MELA-AU 1 175957446 175957446 single base substitution G A synonymous_variant S626S 1878C>T MELA-AU 1 175957446 175957446 single base substitution G A synonymous_variant S650S 1950C>T MELA-AU 1 175957640 175957640 single base substitution A G exon_variant MELA-AU 1 175957640 175957640 single base substitution A G intron_variant MELA-AU 1 175957785 175957785 single base substitution A C exon_variant MELA-AU 1 175957785 175957785 single base substitution A C intron_variant MELA-AU 1 175957956 175957956 single base substitution G A exon_variant MELA-AU 1 175957956 175957956 single base substitution G A intron_variant MELA-AU 1 175958266 175958266 single base substitution A T exon_variant MELA-AU 1 175958266 175958266 single base substitution A T intron_variant MELA-AU 1 175958368 175958368 single base substitution A T exon_variant MELA-AU 1 175958368 175958368 single base substitution A T intron_variant MELA-AU 1 175958589 175958589 single base substitution G A 3_prime_UTR_variant MELA-AU 1 175958589 175958589 single base substitution G A exon_variant MELA-AU 1 175958589 175958589 single base substitution G A missense_variant R421C 1261C>T MELA-AU 1 175958589 175958589 single base substitution G A missense_variant R562C 1684C>T MELA-AU 1 175958589 175958589 single base substitution G A missense_variant R586C 1756C>T MELA-AU 1 175958722 175958722 single base substitution T C intron_variant MELA-AU 1 175959003 175959003 single base substitution G A intron_variant MELA-AU 1 175959235 175959235 single base substitution C T intron_variant MELA-AU 1 175961810 175961810 single base substitution G A intron_variant MELA-AU 1 175962200 175962200 single base substitution G A intron_variant MELA-AU 1 175962369 175962369 single base substitution A G intron_variant MELA-AU 1 175962428 175962428 single base substitution G A intron_variant MELA-AU 1 175962527 175962527 single base substitution G A intron_variant MELA-AU 1 175963377 175963377 single base substitution G A intron_variant MELA-AU 1 175964393 175964393 single base substitution G A intron_variant MELA-AU 1 175965302 175965302 single base substitution A T intron_variant MELA-AU 1 175965865 175965865 single base substitution C A intron_variant MELA-AU 1 175966437 175966437 single base substitution G A intron_variant MELA-AU 1 175966705 175966705 single base substitution C T intron_variant MELA-AU 1 175966725 175966725 single base substitution G A intron_variant MELA-AU 1 175966851 175966851 single base substitution G A intron_variant MELA-AU 1 175967739 175967739 single base substitution A G intron_variant MELA-AU 1 175967971 175967971 single base substitution G T intron_variant MELA-AU 1 175968587 175968587 single base substitution T C intron_variant MELA-AU 1 175968709 175968709 single base substitution G A intron_variant MELA-AU 1 175970130 175970130 single base substitution C T intron_variant MELA-AU 1 175972970 175972970 single base substitution G A intron_variant MELA-AU 1 175973260 175973260 single base substitution G A intron_variant MELA-AU 1 175973745 175973745 single base substitution T A intron_variant MELA-AU 1 175974232 175974232 single base substitution G A intron_variant MELA-AU 1 175974428 175974428 single base substitution T G intron_variant MELA-AU 1 175974481 175974481 single base substitution A G intron_variant MELA-AU 1 175974767 175974767 single base substitution G T intron_variant MELA-AU 1 175974888 175974888 insertion of <=200bp - GAG intron_variant MELA-AU 1 175975141 175975141 single base substitution G A intron_variant MELA-AU 1 175975419 175975419 single base substitution G T intron_variant MELA-AU 1 175975732 175975732 single base substitution C T intron_variant MELA-AU 1 175975764 175975764 single base substitution G A intron_variant MELA-AU 1 175975894 175975894 single base substitution C T intron_variant MELA-AU 1 175977168 175977168 single base substitution G A intron_variant MELA-AU 1 175977260 175977261 multiple base substitution (>=2bp and <=200bp) CC TA intron_variant MELA-AU 1 175977750 175977750 single base substitution G A intron_variant MELA-AU 1 175978191 175978191 single base substitution G A intron_variant MELA-AU 1 175978194 175978194 single base substitution T A intron_variant MELA-AU 1 175979303 175979304 deletion of <=200bp TC - intron_variant MELA-AU 1 175979679 175979679 single base substitution T C intron_variant MELA-AU 1 175980571 175980571 single base substitution G A intron_variant MELA-AU 1 175980743 175980743 single base substitution C T intron_variant MELA-AU 1 175980874 175980874 single base substitution G A intron_variant MELA-AU 1 175981453 175981453 single base substitution G A intron_variant MELA-AU 1 175982252 175982252 single base substitution A C intron_variant MELA-AU 1 175982371 175982371 single base substitution C T intron_variant MELA-AU 1 175984255 175984255 single base substitution G A intron_variant MELA-AU 1 175985016 175985016 single base substitution G A intron_variant MELA-AU 1 175985074 175985074 single base substitution G A intron_variant MELA-AU 1 175985631 175985631 single base substitution G A intron_variant MELA-AU 1 175986179 175986179 single base substitution G A intron_variant MELA-AU 1 175986992 175986992 single base substitution C A intron_variant MELA-AU 1 175987022 175987022 single base substitution T C intron_variant MELA-AU 1 175988391 175988391 single base substitution G A intron_variant MELA-AU 1 175988641 175988642 multiple base substitution (>=2bp and <=200bp) TA CC intron_variant MELA-AU 1 175988644 175988645 multiple base substitution (>=2bp and <=200bp) CC TA intron_variant MELA-AU 1 175989447 175989447 single base substitution G A intron_variant MELA-AU 1 175989748 175989748 single base substitution G A intron_variant MELA-AU 1 175989828 175989828 single base substitution G A intron_variant MELA-AU 1 175989865 175989865 single base substitution G A intron_variant MELA-AU 1 175990389 175990389 single base substitution T C intron_variant MELA-AU 1 175990794 175990794 single base substitution T A intron_variant MELA-AU 1 175991177 175991177 single base substitution T C intron_variant MELA-AU 1 175991585 175991585 single base substitution A T intron_variant MELA-AU 1 175992294 175992294 single base substitution G A intron_variant MELA-AU 1 175992367 175992367 single base substitution C T intron_variant MELA-AU 1 175992674 175992674 single base substitution G A intron_variant MELA-AU 1 175992915 175992915 single base substitution G A intron_variant MELA-AU 1 175993813 175993813 single base substitution G A intron_variant MELA-AU 1 175993995 175993995 single base substitution G A intron_variant MELA-AU 1 175994010 175994010 single base substitution A G intron_variant MELA-AU 1 175994367 175994367 single base substitution G A intron_variant MELA-AU 1 175994719 175994719 single base substitution G A intron_variant MELA-AU 1 175995202 175995202 single base substitution A T intron_variant MELA-AU 1 175995933 175995933 single base substitution A G intron_variant MELA-AU 1 175996310 175996310 single base substitution G A intron_variant MELA-AU 1 175997085 175997085 single base substitution G A intron_variant MELA-AU 1 175997677 175997677 single base substitution G A intron_variant MELA-AU 1 175997687 175997687 single base substitution G A intron_variant MELA-AU 1 175997747 175997747 single base substitution T G intron_variant MELA-AU 1 175998083 175998083 single base substitution T A intron_variant MELA-AU 1 175998246 175998246 single base substitution G A intron_variant MELA-AU 1 175998278 175998278 single base substitution G A intron_variant MELA-AU 1 175999267 175999267 single base substitution A T intron_variant MELA-AU 1 175999410 175999410 single base substitution G A intron_variant MELA-AU 1 175999565 175999565 single base substitution A T intron_variant MELA-AU 1 176000424 176000424 single base substitution G T intron_variant MELA-AU 1 176000620 176000620 single base substitution G T intron_variant MELA-AU 1 176000632 176000632 single base substitution G A intron_variant MELA-AU 1 176001286 176001286 single base substitution G A intron_variant MELA-AU 1 176001767 176001767 single base substitution C A intron_variant MELA-AU 1 176001935 176001935 single base substitution G A intron_variant MELA-AU 1 176002415 176002415 single base substitution G A intron_variant MELA-AU 1 176002495 176002495 single base substitution G A intron_variant MELA-AU 1 176002739 176002739 single base substitution A T intron_variant MELA-AU 1 176002744 176002744 single base substitution G A intron_variant MELA-AU 1 176004401 176004401 single base substitution T A intron_variant MELA-AU 1 176004546 176004546 single base substitution G A intron_variant MELA-AU 1 176004807 176004807 single base substitution G A intron_variant MELA-AU 1 176004985 176004985 single base substitution T C intron_variant MELA-AU 1 176004988 176004988 single base substitution A C intron_variant MELA-AU 1 176005339 176005339 single base substitution T A intron_variant MELA-AU 1 176005627 176005627 single base substitution G A intron_variant MELA-AU 1 176006159 176006159 single base substitution G A intron_variant MELA-AU 1 176006324 176006324 single base substitution G A intron_variant MELA-AU 1 176006636 176006636 single base substitution G A intron_variant MELA-AU 1 176006975 176006975 single base substitution G A intron_variant MELA-AU 1 176007335 176007335 single base substitution G A intron_variant MELA-AU 1 176007557 176007557 single base substitution G A downstream_gene_variant MELA-AU 1 176007557 176007557 single base substitution G A intron_variant MELA-AU 1 176007772 176007772 single base substitution G A downstream_gene_variant MELA-AU 1 176007772 176007772 single base substitution G A intron_variant MELA-AU 1 176007877 176007877 single base substitution C T downstream_gene_variant MELA-AU 1 176007877 176007877 single base substitution C T intron_variant MELA-AU 1 176007886 176007886 single base substitution G A downstream_gene_variant MELA-AU 1 176007886 176007886 single base substitution G A intron_variant MELA-AU 1 176008682 176008682 single base substitution C T downstream_gene_variant MELA-AU 1 176008682 176008682 single base substitution C T intron_variant MELA-AU 1 176008951 176008951 single base substitution G A downstream_gene_variant MELA-AU 1 176008951 176008951 single base substitution G A intron_variant MELA-AU 1 176008977 176008977 single base substitution G A downstream_gene_variant MELA-AU 1 176008977 176008977 single base substitution G A intron_variant MELA-AU 1 176009191 176009191 single base substitution A C downstream_gene_variant MELA-AU 1 176009191 176009191 single base substitution A C intron_variant MELA-AU 1 176009715 176009715 single base substitution G A downstream_gene_variant MELA-AU 1 176009715 176009715 single base substitution G A intron_variant MELA-AU 1 176009922 176009922 single base substitution G A downstream_gene_variant MELA-AU 1 176009922 176009922 single base substitution G A intron_variant MELA-AU 1 176010049 176010049 single base substitution G A downstream_gene_variant MELA-AU 1 176010049 176010049 single base substitution G A intron_variant MELA-AU 1 176011135 176011135 single base substitution C G downstream_gene_variant MELA-AU 1 176011135 176011135 single base substitution C G intron_variant MELA-AU 1 176011315 176011315 single base substitution G A downstream_gene_variant MELA-AU 1 176011315 176011315 single base substitution G A intron_variant MELA-AU 1 176011536 176011536 single base substitution A G downstream_gene_variant MELA-AU 1 176011536 176011536 single base substitution A G intron_variant MELA-AU 1 176011593 176011593 single base substitution G A downstream_gene_variant MELA-AU 1 176011593 176011593 single base substitution G A intron_variant MELA-AU 1 176012216 176012217 multiple base substitution (>=2bp and <=200bp) GG AA downstream_gene_variant MELA-AU 1 176012216 176012217 multiple base substitution (>=2bp and <=200bp) GG AA intron_variant MELA-AU 1 176012292 176012292 single base substitution G A downstream_gene_variant MELA-AU 1 176012292 176012292 single base substitution G A intron_variant MELA-AU 1 176012509 176012509 single base substitution G A intron_variant MELA-AU 1 176012520 176012520 single base substitution G A intron_variant MELA-AU 1 176012927 176012927 single base substitution C T 3_prime_UTR_variant MELA-AU 1 176012927 176012927 single base substitution C T intron_variant MELA-AU 1 176012927 176012927 single base substitution C T synonymous_variant K202K 606G>A MELA-AU 1 176012927 176012927 single base substitution C T synonymous_variant K318K 954G>A MELA-AU 1 176012927 176012927 single base substitution C T synonymous_variant K459K 1377G>A MELA-AU 1 176012927 176012927 single base substitution C T synonymous_variant K483K 1449G>A MELA-AU 1 176013244 176013244 single base substitution G A intron_variant MELA-AU 1 176013325 176013325 single base substitution A G intron_variant MELA-AU 1 176014098 176014098 single base substitution G A intron_variant MELA-AU 1 176016515 176016515 single base substitution G A intron_variant MELA-AU 1 176017136 176017136 single base substitution G A intron_variant MELA-AU 1 176017514 176017514 single base substitution C T intron_variant MELA-AU 1 176018690 176018690 single base substitution G A intron_variant MELA-AU 1 176019514 176019514 single base substitution T C intron_variant MELA-AU 1 176019614 176019614 single base substitution C G intron_variant MELA-AU 1 176019623 176019623 single base substitution A T intron_variant MELA-AU 1 176019856 176019856 single base substitution T C intron_variant MELA-AU 1 176020918 176020918 single base substitution C T intron_variant MELA-AU 1 176022141 176022141 deletion of <=200bp G - intron_variant MELA-AU 1 176022178 176022178 single base substitution C A intron_variant MELA-AU 1 176023197 176023197 single base substitution G A intron_variant MELA-AU 1 176023580 176023580 single base substitution G A intron_variant MELA-AU 1 176023623 176023623 single base substitution G A intron_variant MELA-AU 1 176024442 176024443 multiple base substitution (>=2bp and <=200bp) GC TT intron_variant MELA-AU 1 176025628 176025628 single base substitution T G intron_variant MELA-AU 1 176025648 176025648 insertion of <=200bp - GT intron_variant MELA-AU 1 176026140 176026140 single base substitution C T intron_variant MELA-AU 1 176026404 176026404 single base substitution A T intron_variant MELA-AU 1 176026416 176026416 single base substitution G C intron_variant MELA-AU 1 176027965 176027965 single base substitution G A intron_variant MELA-AU 1 176028419 176028419 single base substitution G A intron_variant MELA-AU 1 176028601 176028601 single base substitution G A intron_variant MELA-AU 1 176028720 176028720 single base substitution G A intron_variant MELA-AU 1 176028930 176028930 single base substitution A G intron_variant MELA-AU 1 176029214 176029214 single base substitution A T intron_variant MELA-AU 1 176029382 176029382 single base substitution G A intron_variant MELA-AU 1 176030092 176030092 single base substitution C T intron_variant MELA-AU 1 176030142 176030142 single base substitution A T intron_variant MELA-AU 1 176030153 176030153 single base substitution G A intron_variant MELA-AU 1 176030266 176030266 single base substitution G A intron_variant MELA-AU 1 176030410 176030410 single base substitution A G intron_variant MELA-AU 1 176030462 176030462 single base substitution G A intron_variant MELA-AU 1 176030796 176030796 single base substitution G A intron_variant MELA-AU 1 176030897 176030897 single base substitution T C intron_variant MELA-AU 1 176030948 176030948 single base substitution A G intron_variant MELA-AU 1 176031290 176031290 single base substitution G A intron_variant MELA-AU 1 176031408 176031408 single base substitution G A intron_variant MELA-AU 1 176031974 176031974 single base substitution G A intron_variant MELA-AU 1 176033568 176033568 single base substitution G A intron_variant MELA-AU 1 176033786 176033786 single base substitution C T intron_variant MELA-AU 1 176033846 176033846 single base substitution C T intron_variant MELA-AU 1 176034036 176034036 single base substitution A G intron_variant MELA-AU 1 176034844 176034844 single base substitution T G intron_variant MELA-AU 1 176034879 176034879 single base substitution C T intron_variant MELA-AU 1 176035058 176035058 single base substitution G A intron_variant MELA-AU 1 176035078 176035078 single base substitution G A intron_variant MELA-AU 1 176035121 176035121 single base substitution C T intron_variant MELA-AU 1 176035256 176035256 single base substitution C A intron_variant MELA-AU 1 176035514 176035514 single base substitution A G intron_variant MELA-AU 1 176035621 176035622 multiple base substitution (>=2bp and <=200bp) AT TA intron_variant MELA-AU 1 176036310 176036310 single base substitution G A intron_variant MELA-AU 1 176036384 176036385 multiple base substitution (>=2bp and <=200bp) GG AA intron_variant MELA-AU 1 176036736 176036737 multiple base substitution (>=2bp and <=200bp) CC TT intron_variant MELA-AU 1 176036838 176036838 single base substitution C T intron_variant MELA-AU 1 176036932 176036932 single base substitution A C intron_variant MELA-AU 1 176039218 176039218 single base substitution G A intron_variant MELA-AU 1 176039973 176039973 single base substitution G A intron_variant MELA-AU 1 176040806 176040806 single base substitution G A intron_variant MELA-AU 1 176041279 176041279 single base substitution C A intron_variant MELA-AU 1 176041824 176041825 multiple base substitution (>=2bp and <=200bp) AA TC intron_variant MELA-AU 1 176042278 176042278 single base substitution C A intron_variant MELA-AU 1 176042608 176042608 single base substitution A C intron_variant MELA-AU 1 176042662 176042662 single base substitution G A intron_variant MELA-AU 1 176042783 176042783 single base substitution G C intron_variant MELA-AU 1 176043198 176043198 single base substitution G A intron_variant MELA-AU 1 176043473 176043473 single base substitution G A intron_variant MELA-AU 1 176043578 176043578 deletion of <=200bp A - intron_variant MELA-AU 1 176044504 176044504 single base substitution A C intron_variant MELA-AU 1 176044590 176044590 single base substitution A C intron_variant MELA-AU 1 176044805 176044805 single base substitution G A intron_variant MELA-AU 1 176045047 176045047 single base substitution G A intron_variant MELA-AU 1 176045066 176045066 single base substitution G A intron_variant MELA-AU 1 176045222 176045222 single base substitution G A intron_variant MELA-AU 1 176045513 176045513 single base substitution G A intron_variant MELA-AU 1 176045771 176045771 single base substitution G A intron_variant MELA-AU 1 176045841 176045841 single base substitution A G intron_variant MELA-AU 1 176046315 176046315 single base substitution A T intron_variant MELA-AU 1 176046479 176046479 single base substitution C T intron_variant MELA-AU 1 176047682 176047682 single base substitution G A intron_variant MELA-AU 1 176048173 176048173 single base substitution T A intron_variant MELA-AU 1 176048214 176048214 single base substitution G A intron_variant MELA-AU 1 176048397 176048397 single base substitution G A intron_variant MELA-AU 1 176048437 176048437 single base substitution A C intron_variant MELA-AU 1 176048575 176048575 single base substitution G A intron_variant MELA-AU 1 176048589 176048589 single base substitution G A intron_variant MELA-AU 1 176048816 176048816 single base substitution A G intron_variant MELA-AU 1 176048987 176048987 single base substitution A G intron_variant MELA-AU 1 176049086 176049086 single base substitution G A intron_variant MELA-AU 1 176049151 176049151 single base substitution G A intron_variant MELA-AU 1 176049561 176049561 single base substitution G A intron_variant MELA-AU 1 176049706 176049706 single base substitution G A intron_variant MELA-AU 1 176050088 176050088 single base substitution G A downstream_gene_variant MELA-AU 1 176050088 176050088 single base substitution G A intron_variant MELA-AU 1 176050669 176050669 single base substitution G A downstream_gene_variant MELA-AU 1 176050669 176050669 single base substitution G A intron_variant MELA-AU 1 176050669 176050669 single base substitution G A upstream_gene_variant MELA-AU 1 176050701 176050701 single base substitution A G downstream_gene_variant MELA-AU 1 176050701 176050701 single base substitution A G intron_variant MELA-AU 1 176050701 176050701 single base substitution A G upstream_gene_variant MELA-AU 1 176051428 176051428 single base substitution C T downstream_gene_variant MELA-AU 1 176051428 176051428 single base substitution C T intron_variant MELA-AU 1 176051428 176051428 single base substitution C T upstream_gene_variant MELA-AU 1 176051618 176051618 single base substitution G A downstream_gene_variant MELA-AU 1 176051618 176051618 single base substitution G A intron_variant MELA-AU 1 176051618 176051618 single base substitution G A upstream_gene_variant MELA-AU 1 176053079 176053079 single base substitution C T downstream_gene_variant MELA-AU 1 176053079 176053079 single base substitution C T intron_variant MELA-AU 1 176053079 176053079 single base substitution C T upstream_gene_variant MELA-AU 1 176053271 176053271 single base substitution C T downstream_gene_variant MELA-AU 1 176053271 176053271 single base substitution C T intron_variant MELA-AU 1 176053271 176053271 single base substitution C T upstream_gene_variant MELA-AU 1 176053799 176053799 single base substitution T A downstream_gene_variant MELA-AU 1 176053799 176053799 single base substitution T A intron_variant MELA-AU 1 176053799 176053799 single base substitution T A upstream_gene_variant MELA-AU 1 176053856 176053856 single base substitution T C downstream_gene_variant MELA-AU 1 176053856 176053856 single base substitution T C intron_variant MELA-AU 1 176053856 176053856 single base substitution T C upstream_gene_variant MELA-AU 1 176053996 176053996 single base substitution T C downstream_gene_variant MELA-AU 1 176053996 176053996 single base substitution T C intron_variant MELA-AU 1 176053996 176053996 single base substitution T C upstream_gene_variant MELA-AU 1 176054770 176054770 single base substitution A C downstream_gene_variant MELA-AU 1 176054770 176054770 single base substitution A C intron_variant MELA-AU 1 176054770 176054770 single base substitution A C upstream_gene_variant MELA-AU 1 176055575 176055575 single base substitution G A intron_variant MELA-AU 1 176055747 176055747 single base substitution G A intron_variant MELA-AU 1 176055760 176055760 single base substitution G A intron_variant MELA-AU 1 176056027 176056027 single base substitution G A intron_variant MELA-AU 1 176056347 176056347 single base substitution G A intron_variant MELA-AU 1 176056660 176056660 single base substitution T C intron_variant MELA-AU 1 176057080 176057080 single base substitution T C intron_variant MELA-AU 1 176057127 176057127 single base substitution A G intron_variant MELA-AU 1 176057208 176057208 single base substitution G A intron_variant MELA-AU 1 176057262 176057262 single base substitution G A intron_variant MELA-AU 1 176057937 176057937 single base substitution G A intron_variant MELA-AU 1 176058246 176058246 single base substitution G A intron_variant MELA-AU 1 176058435 176058435 single base substitution T C intron_variant MELA-AU 1 176058590 176058590 single base substitution A C intron_variant MELA-AU 1 176058820 176058820 single base substitution T C intron_variant MELA-AU 1 176059760 176059760 single base substitution G A intron_variant MELA-AU 1 176059776 176059776 single base substitution G A intron_variant MELA-AU 1 176059789 176059789 single base substitution G A intron_variant MELA-AU 1 176060410 176060410 single base substitution G A intron_variant MELA-AU 1 176060465 176060465 single base substitution G A intron_variant MELA-AU 1 176060469 176060469 single base substitution G A intron_variant MELA-AU 1 176060722 176060722 single base substitution G A intron_variant MELA-AU 1 176060857 176060857 single base substitution G A intron_variant MELA-AU 1 176060905 176060905 single base substitution C T intron_variant MELA-AU 1 176061866 176061866 single base substitution G A intron_variant MELA-AU 1 176063197 176063197 single base substitution G A intron_variant MELA-AU 1 176063729 176063729 single base substitution C A intron_variant MELA-AU 1 176065147 176065147 single base substitution A T intron_variant MELA-AU 1 176065258 176065258 single base substitution C A intron_variant MELA-AU 1 176065605 176065605 single base substitution G A intron_variant MELA-AU 1 176065696 176065696 single base substitution G A intron_variant MELA-AU 1 176065741 176065741 single base substitution G A intron_variant MELA-AU 1 176066123 176066123 single base substitution A G intron_variant MELA-AU 1 176066423 176066423 single base substitution G A intron_variant MELA-AU 1 176066429 176066429 single base substitution G A intron_variant MELA-AU 1 176066575 176066576 multiple base substitution (>=2bp and <=200bp) GG AA intron_variant MELA-AU 1 176067276 176067276 single base substitution T C intron_variant MELA-AU 1 176067453 176067453 single base substitution G A intron_variant MELA-AU 1 176067798 176067798 single base substitution G A intron_variant MELA-AU 1 176068096 176068096 single base substitution A C intron_variant MELA-AU 1 176069181 176069181 single base substitution T C intron_variant MELA-AU 1 176069379 176069379 single base substitution A T intron_variant MELA-AU 1 176069898 176069898 single base substitution G A intron_variant MELA-AU 1 176070100 176070100 single base substitution A C intron_variant MELA-AU 1 176070361 176070361 single base substitution G A intron_variant MELA-AU 1 176070522 176070522 single base substitution G A intron_variant MELA-AU 1 176070710 176070710 single base substitution G A intron_variant MELA-AU 1 176070725 176070725 single base substitution A G intron_variant MELA-AU 1 176070924 176070924 single base substitution G A intron_variant MELA-AU 1 176070940 176070940 single base substitution G A intron_variant MELA-AU 1 176071334 176071334 single base substitution A G intron_variant MELA-AU 1 176072248 176072248 single base substitution G A intron_variant MELA-AU 1 176072621 176072621 single base substitution A G intron_variant MELA-AU 1 176072693 176072693 single base substitution G A intron_variant MELA-AU 1 176072896 176072896 single base substitution T C intron_variant MELA-AU 1 176072943 176072943 single base substitution G A intron_variant MELA-AU 1 176073511 176073511 single base substitution G A intron_variant MELA-AU 1 176074193 176074193 single base substitution T G intron_variant MELA-AU 1 176074293 176074293 single base substitution G A intron_variant MELA-AU 1 176074489 176074489 single base substitution G A intron_variant MELA-AU 1 176074738 176074738 single base substitution G A intron_variant MELA-AU 1 176075387 176075387 single base substitution G A intron_variant MELA-AU 1 176075783 176075783 single base substitution T C intron_variant MELA-AU 1 176076699 176076699 single base substitution A C intron_variant MELA-AU 1 176077495 176077495 single base substitution G A intron_variant MELA-AU 1 176078113 176078113 single base substitution T A intron_variant MELA-AU 1 176078746 176078746 single base substitution G A intron_variant MELA-AU 1 176079294 176079294 single base substitution A G intron_variant MELA-AU 1 176079619 176079619 single base substitution C T intron_variant MELA-AU 1 176080102 176080102 single base substitution A G intron_variant MELA-AU 1 176080223 176080223 single base substitution G A intron_variant MELA-AU 1 176080357 176080357 single base substitution T G intron_variant MELA-AU 1 176080829 176080829 single base substitution G A downstream_gene_variant MELA-AU 1 176080829 176080829 single base substitution G A intron_variant MELA-AU 1 176081156 176081156 single base substitution G A downstream_gene_variant MELA-AU 1 176081156 176081156 single base substitution G A intron_variant MELA-AU 1 176081367 176081367 single base substitution A G downstream_gene_variant MELA-AU 1 176081367 176081367 single base substitution A G intron_variant MELA-AU 1 176081371 176081371 single base substitution A T downstream_gene_variant MELA-AU 1 176081371 176081371 single base substitution A T intron_variant MELA-AU 1 176081433 176081433 single base substitution G A downstream_gene_variant MELA-AU 1 176081433 176081433 single base substitution G A intron_variant MELA-AU 1 176082379 176082379 single base substitution A G downstream_gene_variant MELA-AU 1 176082379 176082379 single base substitution A G intron_variant MELA-AU 1 176083057 176083057 single base substitution A G downstream_gene_variant MELA-AU 1 176083057 176083057 single base substitution A G intron_variant MELA-AU 1 176083079 176083079 single base substitution G A downstream_gene_variant MELA-AU 1 176083079 176083079 single base substitution G A intron_variant MELA-AU 1 176083272 176083272 single base substitution C T downstream_gene_variant MELA-AU 1 176083272 176083272 single base substitution C T intron_variant MELA-AU 1 176083588 176083588 single base substitution G A downstream_gene_variant MELA-AU 1 176083588 176083588 single base substitution G A intron_variant MELA-AU 1 176083743 176083743 single base substitution G A downstream_gene_variant MELA-AU 1 176083743 176083743 single base substitution G A intron_variant MELA-AU 1 176083814 176083815 multiple base substitution (>=2bp and <=200bp) CC TT downstream_gene_variant MELA-AU 1 176083814 176083815 multiple base substitution (>=2bp and <=200bp) CC TT intron_variant MELA-AU 1 176084481 176084481 single base substitution G A downstream_gene_variant MELA-AU 1 176084481 176084481 single base substitution G A intron_variant MELA-AU 1 176084572 176084572 single base substitution G A downstream_gene_variant MELA-AU 1 176084572 176084572 single base substitution G A intron_variant MELA-AU 1 176084645 176084645 single base substitution G A downstream_gene_variant MELA-AU 1 176084645 176084645 single base substitution G A intron_variant MELA-AU 1 176084814 176084814 single base substitution G A downstream_gene_variant MELA-AU 1 176084814 176084814 single base substitution G A intron_variant MELA-AU 1 176085830 176085830 single base substitution G A intron_variant MELA-AU 1 176086001 176086001 single base substitution A G intron_variant MELA-AU 1 176086007 176086007 single base substitution C T intron_variant MELA-AU 1 176086041 176086041 single base substitution G A intron_variant MELA-AU 1 176087031 176087031 single base substitution G A intron_variant MELA-AU 1 176087531 176087531 single base substitution G A intron_variant MELA-AU 1 176087535 176087535 single base substitution G A intron_variant MELA-AU 1 176087601 176087601 single base substitution C T intron_variant MELA-AU 1 176088261 176088262 multiple base substitution (>=2bp and <=200bp) AG GA intron_variant MELA-AU 1 176089451 176089451 single base substitution G A intron_variant MELA-AU 1 176089538 176089538 single base substitution G A intron_variant MELA-AU 1 176089612 176089612 single base substitution G A intron_variant MELA-AU 1 176089677 176089677 single base substitution G A intron_variant MELA-AU 1 176089727 176089727 single base substitution A T intron_variant MELA-AU 1 176090866 176090866 single base substitution G A intron_variant MELA-AU 1 176091445 176091445 single base substitution G A intron_variant MELA-AU 1 176091520 176091520 single base substitution G A intron_variant MELA-AU 1 176092030 176092030 single base substitution A C intron_variant MELA-AU 1 176092052 176092052 single base substitution T A intron_variant MELA-AU 1 176092095 176092095 single base substitution G A intron_variant MELA-AU 1 176092115 176092115 single base substitution G A intron_variant MELA-AU 1 176092601 176092601 single base substitution G A intron_variant MELA-AU 1 176092654 176092654 single base substitution C T intron_variant MELA-AU 1 176092976 176092976 single base substitution A G intron_variant MELA-AU 1 176093184 176093184 single base substitution G A intron_variant MELA-AU 1 176093507 176093507 single base substitution T A intron_variant MELA-AU 1 176093868 176093868 single base substitution G A intron_variant MELA-AU 1 176093930 176093930 single base substitution G A intron_variant MELA-AU 1 176094334 176094334 single base substitution C A intron_variant MELA-AU 1 176094657 176094657 single base substitution A T intron_variant MELA-AU 1 176094795 176094795 single base substitution G A intron_variant MELA-AU 1 176095627 176095627 single base substitution T C intron_variant MELA-AU 1 176096723 176096723 single base substitution G A intron_variant MELA-AU 1 176096749 176096749 single base substitution G A intron_variant MELA-AU 1 176096884 176096884 single base substitution G A intron_variant MELA-AU 1 176098347 176098347 single base substitution G A intron_variant MELA-AU 1 176099434 176099434 single base substitution C T downstream_gene_variant MELA-AU 1 176099434 176099434 single base substitution C T intron_variant MELA-AU 1 176099662 176099662 single base substitution G A downstream_gene_variant MELA-AU 1 176099662 176099662 single base substitution G A intron_variant MELA-AU 1 176100083 176100083 single base substitution G A downstream_gene_variant MELA-AU 1 176100083 176100083 single base substitution G A intron_variant MELA-AU 1 176100873 176100873 single base substitution A G downstream_gene_variant MELA-AU 1 176100873 176100873 single base substitution A G intron_variant MELA-AU 1 176100927 176100927 single base substitution G A downstream_gene_variant MELA-AU 1 176100927 176100927 single base substitution G A intron_variant MELA-AU 1 176101554 176101554 single base substitution G A downstream_gene_variant MELA-AU 1 176101554 176101554 single base substitution G A intron_variant MELA-AU 1 176102220 176102220 single base substitution T C downstream_gene_variant MELA-AU 1 176102220 176102220 single base substitution T C intron_variant MELA-AU 1 176102376 176102376 single base substitution G A downstream_gene_variant MELA-AU 1 176102376 176102376 single base substitution G A intron_variant MELA-AU 1 176102409 176102409 single base substitution T G downstream_gene_variant MELA-AU 1 176102409 176102409 single base substitution T G intron_variant MELA-AU 1 176102593 176102593 single base substitution G A downstream_gene_variant MELA-AU 1 176102593 176102593 single base substitution G A intron_variant MELA-AU 1 176103157 176103157 single base substitution G A downstream_gene_variant MELA-AU 1 176103157 176103157 single base substitution G A intron_variant MELA-AU 1 176103468 176103468 single base substitution A G downstream_gene_variant MELA-AU 1 176103468 176103468 single base substitution A G intron_variant MELA-AU 1 176103990 176103990 single base substitution G A downstream_gene_variant MELA-AU 1 176103990 176103990 single base substitution G A intron_variant MELA-AU 1 176104038 176104038 single base substitution A T downstream_gene_variant MELA-AU 1 176104038 176104038 single base substitution A T intron_variant MELA-AU 1 176104200 176104200 single base substitution G A 3_prime_UTR_variant MELA-AU 1 176104200 176104200 single base substitution G A missense_variant P140L 419C>T MELA-AU 1 176104200 176104200 single base substitution G A missense_variant P144L 431C>T MELA-AU 1 176104200 176104200 single base substitution G A missense_variant P281L 842C>T MELA-AU 1 176104200 176104200 single base substitution G A missense_variant P305L 914C>T MELA-AU 1 176104200 176104200 single base substitution G A missense_variant P6L 17C>T MELA-AU 1 176105012 176105012 single base substitution A T intron_variant MELA-AU 1 176105012 176105012 single base substitution A T upstream_gene_variant MELA-AU 1 176105322 176105322 single base substitution G C intron_variant MELA-AU 1 176105322 176105322 single base substitution G C upstream_gene_variant MELA-AU 1 176106200 176106200 single base substitution A G intron_variant MELA-AU 1 176106200 176106200 single base substitution A G upstream_gene_variant MELA-AU 1 176106281 176106282 multiple base substitution (>=2bp and <=200bp) GG TA intron_variant MELA-AU 1 176106281 176106282 multiple base substitution (>=2bp and <=200bp) GG TA upstream_gene_variant MELA-AU 1 176106672 176106672 deletion of <=200bp A - intron_variant MELA-AU 1 176106672 176106672 deletion of <=200bp A - upstream_gene_variant MELA-AU 1 176106880 176106880 single base substitution G A intron_variant MELA-AU 1 176106880 176106880 single base substitution G A upstream_gene_variant MELA-AU 1 176107234 176107234 single base substitution C T intron_variant MELA-AU 1 176107234 176107234 single base substitution C T upstream_gene_variant MELA-AU 1 176107356 176107356 single base substitution G C intron_variant MELA-AU 1 176107356 176107356 single base substitution G C upstream_gene_variant MELA-AU 1 176107900 176107900 single base substitution A C intron_variant MELA-AU 1 176107900 176107900 single base substitution A C upstream_gene_variant MELA-AU 1 176107987 176107987 single base substitution C T intron_variant MELA-AU 1 176107987 176107987 single base substitution C T upstream_gene_variant MELA-AU 1 176108079 176108079 single base substitution T G intron_variant MELA-AU 1 176108079 176108079 single base substitution T G upstream_gene_variant MELA-AU 1 176108212 176108212 single base substitution G A intron_variant MELA-AU 1 176108212 176108212 single base substitution G A upstream_gene_variant MELA-AU 1 176108291 176108291 single base substitution G A intron_variant MELA-AU 1 176108291 176108291 single base substitution G A upstream_gene_variant MELA-AU 1 176108751 176108751 single base substitution G A intron_variant MELA-AU 1 176108751 176108751 single base substitution G A upstream_gene_variant MELA-AU 1 176108831 176108831 single base substitution G A intron_variant MELA-AU 1 176108831 176108831 single base substitution G A upstream_gene_variant MELA-AU 1 176108929 176108929 single base substitution G A intron_variant MELA-AU 1 176108929 176108929 single base substitution G A upstream_gene_variant MELA-AU 1 176109174 176109174 single base substitution G A intron_variant MELA-AU 1 176109174 176109174 single base substitution G A upstream_gene_variant MELA-AU 1 176110377 176110377 single base substitution C T intron_variant MELA-AU 1 176110961 176110961 single base substitution G A intron_variant MELA-AU 1 176111408 176111408 single base substitution A T intron_variant MELA-AU 1 176111935 176111935 single base substitution G A intron_variant MELA-AU 1 176112766 176112766 single base substitution G A intron_variant MELA-AU 1 176112815 176112815 single base substitution G A intron_variant MELA-AU 1 176113281 176113281 single base substitution G A intron_variant MELA-AU 1 176113814 176113814 single base substitution G A intron_variant MELA-AU 1 176114229 176114229 single base substitution G A intron_variant MELA-AU 1 176114920 176114920 single base substitution A G intron_variant MELA-AU 1 176117535 176117535 single base substitution A T intron_variant MELA-AU 1 176117546 176117546 single base substitution T G intron_variant MELA-AU 1 176117583 176117583 single base substitution G A intron_variant MELA-AU 1 176118053 176118053 single base substitution G A intron_variant MELA-AU 1 176118388 176118388 single base substitution T C intron_variant MELA-AU 1 176118917 176118917 single base substitution A G intron_variant MELA-AU 1 176118952 176118952 single base substitution A C intron_variant MELA-AU 1 176119011 176119011 single base substitution C G intron_variant MELA-AU 1 176119541 176119541 single base substitution C T intron_variant MELA-AU 1 176119921 176119921 single base substitution G A intron_variant MELA-AU 1 176120104 176120104 single base substitution G T intron_variant MELA-AU 1 176120172 176120172 single base substitution A T intron_variant MELA-AU 1 176120261 176120261 single base substitution C T intron_variant MELA-AU 1 176120265 176120265 single base substitution A G intron_variant MELA-AU 1 176120306 176120306 single base substitution G A intron_variant MELA-AU 1 176121601 176121601 single base substitution T A intron_variant MELA-AU 1 176121679 176121679 single base substitution G A intron_variant MELA-AU 1 176122851 176122851 single base substitution G A intron_variant MELA-AU 1 176123575 176123575 single base substitution G A intron_variant MELA-AU 1 176123672 176123672 single base substitution G A intron_variant MELA-AU 1 176123947 176123947 single base substitution G A intron_variant MELA-AU 1 176124590 176124590 single base substitution G A intron_variant MELA-AU 1 176124676 176124676 single base substitution G A intron_variant MELA-AU 1 176124912 176124912 single base substitution G A intron_variant MELA-AU 1 176126136 176126136 single base substitution C T intron_variant MELA-AU 1 176127124 176127124 single base substitution A T intron_variant MELA-AU 1 176127368 176127368 single base substitution C G intron_variant MELA-AU 1 176127548 176127548 single base substitution G A intron_variant MELA-AU 1 176127968 176127968 single base substitution G A intron_variant MELA-AU 1 176127997 176127997 single base substitution G A intron_variant MELA-AU 1 176128214 176128214 single base substitution G A intron_variant MELA-AU 1 176128301 176128301 single base substitution G A intron_variant MELA-AU 1 176128372 176128372 single base substitution G A intron_variant MELA-AU 1 176128579 176128579 single base substitution G A intron_variant MELA-AU 1 176128993 176128993 single base substitution G A intron_variant MELA-AU 1 176129734 176129734 single base substitution G A intron_variant MELA-AU 1 176129856 176129856 single base substitution G A intron_variant MELA-AU 1 176130008 176130008 single base substitution C T intron_variant MELA-AU 1 176130286 176130286 single base substitution A C intron_variant MELA-AU 1 176130496 176130496 single base substitution G A intron_variant MELA-AU 1 176130741 176130741 single base substitution A C intron_variant MELA-AU 1 176130951 176130951 single base substitution G A intron_variant MELA-AU 1 176133103 176133103 single base substitution G A intron_variant MELA-AU 1 176133700 176133700 single base substitution G A intron_variant MELA-AU 1 176133710 176133710 single base substitution C A intron_variant MELA-AU 1 176134222 176134222 single base substitution G A intron_variant MELA-AU 1 176134758 176134758 single base substitution G A intron_variant MELA-AU 1 176134869 176134869 single base substitution T C intron_variant MELA-AU 1 176135038 176135038 single base substitution G A intron_variant MELA-AU 1 176135357 176135357 single base substitution G A intron_variant MELA-AU 1 176135707 176135707 single base substitution G A intron_variant MELA-AU 1 176135756 176135756 single base substitution T A intron_variant MELA-AU 1 176135833 176135833 single base substitution G A intron_variant MELA-AU 1 176136129 176136129 single base substitution G A intron_variant MELA-AU 1 176136510 176136510 single base substitution G A intron_variant MELA-AU 1 176136551 176136551 single base substitution T A intron_variant MELA-AU 1 176136580 176136580 single base substitution G A intron_variant MELA-AU 1 176136770 176136770 single base substitution G A intron_variant MELA-AU 1 176137160 176137160 single base substitution G A intron_variant MELA-AU 1 176137197 176137197 single base substitution G A intron_variant MELA-AU 1 176137543 176137543 single base substitution G A intron_variant MELA-AU 1 176137977 176137977 single base substitution G A intron_variant MELA-AU 1 176138177 176138177 single base substitution G A intron_variant MELA-AU 1 176138514 176138514 single base substitution A G intron_variant MELA-AU 1 176139116 176139116 single base substitution C T intron_variant MELA-AU 1 176139299 176139299 single base substitution C T intron_variant MELA-AU 1 176139817 176139817 single base substitution G A intron_variant MELA-AU 1 176139980 176139980 single base substitution G A intron_variant MELA-AU 1 176140117 176140117 single base substitution C T intron_variant MELA-AU 1 176140940 176140940 single base substitution G A intron_variant MELA-AU 1 176141100 176141100 single base substitution C T intron_variant MELA-AU 1 176142109 176142109 single base substitution G A intron_variant MELA-AU 1 176142452 176142452 single base substitution A T intron_variant MELA-AU 1 176144222 176144222 deletion of <=200bp A - intron_variant MELA-AU 1 176144342 176144342 single base substitution G A intron_variant MELA-AU 1 176145159 176145159 single base substitution G A intron_variant MELA-AU 1 176145799 176145799 single base substitution G A intron_variant MELA-AU 1 176146119 176146119 single base substitution G A intron_variant MELA-AU 1 176146213 176146213 single base substitution G A intron_variant MELA-AU 1 176146561 176146561 single base substitution G A intron_variant MELA-AU 1 176146677 176146677 single base substitution G A intron_variant MELA-AU 1 176146910 176146910 single base substitution T C intron_variant MELA-AU 1 176146949 176146949 single base substitution C T intron_variant MELA-AU 1 176147011 176147011 single base substitution A T intron_variant MELA-AU 1 176147373 176147373 single base substitution G A intron_variant MELA-AU 1 176147485 176147485 single base substitution A T intron_variant MELA-AU 1 176147671 176147671 single base substitution G A intron_variant MELA-AU 1 176148290 176148290 single base substitution T A intron_variant MELA-AU 1 176149001 176149001 single base substitution A T intron_variant MELA-AU 1 176149962 176149962 single base substitution A T intron_variant MELA-AU 1 176150032 176150032 single base substitution G A intron_variant MELA-AU 1 176150755 176150755 single base substitution G A intron_variant MELA-AU 1 176150769 176150769 single base substitution G A intron_variant MELA-AU 1 176151127 176151127 single base substitution A G intron_variant MELA-AU 1 176151629 176151629 single base substitution G A intron_variant MELA-AU 1 176151858 176151858 single base substitution G A intron_variant MELA-AU 1 176151979 176151979 single base substitution G A intron_variant MELA-AU 1 176152101 176152101 single base substitution A T intron_variant MELA-AU 1 176152452 176152452 single base substitution G A intron_variant MELA-AU 1 176153069 176153069 single base substitution G A intron_variant MELA-AU 1 176153925 176153925 single base substitution T C intron_variant MELA-AU 1 176153925 176153925 single base substitution T C upstream_gene_variant MELA-AU 1 176154059 176154059 single base substitution G A intron_variant MELA-AU 1 176154059 176154059 single base substitution G A upstream_gene_variant MELA-AU 1 176154599 176154599 single base substitution G A intron_variant MELA-AU 1 176154599 176154599 single base substitution G A upstream_gene_variant MELA-AU 1 176155085 176155085 single base substitution G A intron_variant MELA-AU 1 176155085 176155085 single base substitution G A upstream_gene_variant MELA-AU 1 176155489 176155489 single base substitution T A intron_variant MELA-AU 1 176155489 176155489 single base substitution T A upstream_gene_variant MELA-AU 1 176155694 176155694 single base substitution A T intron_variant MELA-AU 1 176155694 176155694 single base substitution A T upstream_gene_variant MELA-AU 1 176155794 176155794 single base substitution G A intron_variant MELA-AU 1 176155794 176155794 single base substitution G A upstream_gene_variant MELA-AU 1 176156013 176156013 single base substitution G A intron_variant MELA-AU 1 176156013 176156013 single base substitution G A upstream_gene_variant MELA-AU 1 176156389 176156389 single base substitution G A intron_variant MELA-AU 1 176156389 176156389 single base substitution G A upstream_gene_variant MELA-AU 1 176156624 176156624 single base substitution A C intron_variant MELA-AU 1 176156624 176156624 single base substitution A C upstream_gene_variant MELA-AU 1 176156853 176156853 single base substitution T A intron_variant MELA-AU 1 176156853 176156853 single base substitution T A upstream_gene_variant MELA-AU 1 176157517 176157517 single base substitution A T intron_variant MELA-AU 1 176157517 176157517 single base substitution A T upstream_gene_variant MELA-AU 1 176158312 176158312 single base substitution G A intron_variant MELA-AU 1 176158312 176158312 single base substitution G A upstream_gene_variant MELA-AU 1 176158377 176158377 single base substitution G A intron_variant MELA-AU 1 176158377 176158377 single base substitution G A upstream_gene_variant MELA-AU 1 176158505 176158505 single base substitution G A intron_variant MELA-AU 1 176158505 176158505 single base substitution G A upstream_gene_variant MELA-AU 1 176158867 176158867 single base substitution C G intron_variant MELA-AU 1 176159446 176159446 single base substitution G A intron_variant MELA-AU 1 176159477 176159477 single base substitution G A intron_variant MELA-AU 1 176159573 176159573 single base substitution G A intron_variant MELA-AU 1 176160308 176160308 single base substitution G A intron_variant MELA-AU 1 176161034 176161034 single base substitution A T intron_variant MELA-AU 1 176161971 176161971 single base substitution G A intron_variant MELA-AU 1 176162033 176162033 single base substitution C T intron_variant MELA-AU 1 176162458 176162458 single base substitution G A intron_variant MELA-AU 1 176162726 176162726 single base substitution A T intron_variant MELA-AU 1 176163134 176163134 single base substitution G A intron_variant MELA-AU 1 176163863 176163863 single base substitution T G intron_variant MELA-AU 1 176164282 176164282 single base substitution G A intron_variant MELA-AU 1 176164852 176164852 single base substitution G A intron_variant MELA-AU 1 176164907 176164907 single base substitution G A intron_variant MELA-AU 1 176164994 176164994 single base substitution G A intron_variant MELA-AU 1 176165304 176165304 single base substitution G A intron_variant MELA-AU 1 176165318 176165318 single base substitution G A intron_variant MELA-AU 1 176165509 176165509 single base substitution G A intron_variant MELA-AU 1 176166134 176166134 single base substitution G A intron_variant MELA-AU 1 176167081 176167081 single base substitution A G intron_variant MELA-AU 1 176167515 176167515 single base substitution A G intron_variant MELA-AU 1 176167919 176167919 single base substitution G A intron_variant MELA-AU 1 176168470 176168470 single base substitution G A intron_variant MELA-AU 1 176168974 176168975 multiple base substitution (>=2bp and <=200bp) GG AA intron_variant MELA-AU 1 176169558 176169558 single base substitution G A intron_variant MELA-AU 1 176169561 176169561 single base substitution T C intron_variant MELA-AU 1 176170564 176170564 single base substitution G A intron_variant MELA-AU 1 176171742 176171742 single base substitution G A intron_variant MELA-AU 1 176171746 176171746 single base substitution A T intron_variant MELA-AU 1 176172381 176172381 single base substitution G A intron_variant MELA-AU 1 176172399 176172399 single base substitution G A intron_variant MELA-AU 1 176174626 176174626 single base substitution C T intron_variant MELA-AU 1 176176713 176176713 single base substitution C T upstream_gene_variant MELA-AU 1 176177215 176177215 single base substitution G A upstream_gene_variant MELA-AU 1 176177639 176177639 single base substitution A G upstream_gene_variant MELA-AU 1 176177748 176177748 single base substitution C T upstream_gene_variant MELA-AU 1 176179301 176179301 single base substitution C T upstream_gene_variant MELA-AU 1 176179480 176179480 single base substitution A C upstream_gene_variant MELA-AU 1 176179620 176179620 single base substitution C T upstream_gene_variant MELA-AU 1 176180027 176180028 multiple base substitution (>=2bp and <=200bp) CC TT upstream_gene_variant MELA-AU 1 176180203 176180203 single base substitution T G upstream_gene_variant MELA-AU 1 176180262 176180262 single base substitution C T upstream_gene_variant MELA-AU 1 176180359 176180359 single base substitution C T upstream_gene_variant MELA-AU 1 176180994 176180994 single base substitution T A upstream_gene_variant ORCA-IN 1 175930620 175930620 single base substitution G A intron_variant ORCA-IN 1 175977664 175977665 deletion of <=200bp TT - intron_variant ORCA-IN 1 175987957 175987957 single base substitution A G intron_variant ORCA-IN 1 176016203 176016203 single base substitution C G intron_variant ORCA-IN 1 176016786 176016786 single base substitution A G intron_variant ORCA-IN 1 176031513 176031513 single base substitution T A intron_variant ORCA-IN 1 176045890 176045890 single base substitution C G intron_variant ORCA-IN 1 176104162 176104162 single base substitution G C 3_prime_UTR_variant ORCA-IN 1 176104162 176104162 single base substitution G C missense_variant P153A 457C>G ORCA-IN 1 176104162 176104162 single base substitution G C missense_variant P157A 469C>G ORCA-IN 1 176104162 176104162 single base substitution G C missense_variant P19A 55C>G ORCA-IN 1 176104162 176104162 single base substitution G C missense_variant P294A 880C>G ORCA-IN 1 176104162 176104162 single base substitution G C missense_variant P318A 952C>G ORCA-IN 1 176153005 176153005 single base substitution G A intron_variant ORCA-IN 1 176156217 176156217 single base substitution T C intron_variant ORCA-IN 1 176156217 176156217 single base substitution T C upstream_gene_variant ORCA-IN 1 176158784 176158784 single base substitution T G intron_variant ORCA-IN 1 176158784 176158784 single base substitution T G upstream_gene_variant ORCA-IN 1 176170876 176170876 single base substitution C T intron_variant OV-AU 1 175911158 175911158 single base substitution A T downstream_gene_variant OV-AU 1 175916541 175916541 single base substitution C A intron_variant OV-AU 1 175916541 175916541 single base substitution C A upstream_gene_variant OV-AU 1 175919743 175919743 single base substitution T G intron_variant OV-AU 1 175919743 175919743 single base substitution T G upstream_gene_variant OV-AU 1 175921537 175921537 single base substitution G A intron_variant OV-AU 1 175925076 175925076 single base substitution C G intron_variant OV-AU 1 175925676 175925676 single base substitution T C intron_variant OV-AU 1 175927033 175927033 single base substitution T C intron_variant OV-AU 1 175929297 175929297 single base substitution A T intron_variant OV-AU 1 175934179 175934179 single base substitution C A intron_variant OV-AU 1 175937780 175937780 single base substitution T C intron_variant OV-AU 1 175938672 175938672 single base substitution T C intron_variant OV-AU 1 175943377 175943377 single base substitution C G intron_variant OV-AU 1 175944004 175944004 single base substitution A G intron_variant OV-AU 1 175948836 175948836 single base substitution T C intron_variant OV-AU 1 175950198 175950198 single base substitution C G intron_variant OV-AU 1 175950486 175950486 single base substitution A G intron_variant OV-AU 1 175955562 175955562 single base substitution T C intron_variant OV-AU 1 175960699 175960699 single base substitution C A intron_variant OV-AU 1 175962021 175962021 single base substitution A T intron_variant OV-AU 1 175962229 175962229 single base substitution C T intron_variant OV-AU 1 175985940 175985940 single base substitution T A intron_variant OV-AU 1 175988572 175988572 single base substitution C T intron_variant OV-AU 1 176009392 176009392 single base substitution T A downstream_gene_variant OV-AU 1 176009392 176009392 single base substitution T A intron_variant OV-AU 1 176011275 176011275 single base substitution T A downstream_gene_variant OV-AU 1 176011275 176011275 single base substitution T A intron_variant OV-AU 1 176012040 176012040 single base substitution C A downstream_gene_variant OV-AU 1 176012040 176012040 single base substitution C A intron_variant OV-AU 1 176025596 176025596 single base substitution C A intron_variant OV-AU 1 176028266 176028266 single base substitution T C intron_variant OV-AU 1 176034845 176034845 single base substitution T G intron_variant OV-AU 1 176036008 176036008 single base substitution T C intron_variant OV-AU 1 176036045 176036045 single base substitution G A intron_variant OV-AU 1 176043380 176043380 single base substitution G A intron_variant OV-AU 1 176044375 176044375 single base substitution A T intron_variant OV-AU 1 176047516 176047516 single base substitution A C intron_variant OV-AU 1 176051112 176051112 single base substitution A C downstream_gene_variant OV-AU 1 176051112 176051112 single base substitution A C intron_variant OV-AU 1 176051112 176051112 single base substitution A C upstream_gene_variant OV-AU 1 176054617 176054617 single base substitution G A downstream_gene_variant OV-AU 1 176054617 176054617 single base substitution G A intron_variant OV-AU 1 176054617 176054617 single base substitution G A upstream_gene_variant OV-AU 1 176058048 176058048 single base substitution T C intron_variant OV-AU 1 176058237 176058237 single base substitution G T intron_variant OV-AU 1 176068240 176068240 single base substitution A G intron_variant OV-AU 1 176077921 176077921 single base substitution A T intron_variant OV-AU 1 176081822 176081822 single base substitution T A downstream_gene_variant OV-AU 1 176081822 176081822 single base substitution T A intron_variant OV-AU 1 176090567 176090567 single base substitution G C intron_variant OV-AU 1 176092023 176092023 single base substitution T C intron_variant OV-AU 1 176103152 176103152 single base substitution C T downstream_gene_variant OV-AU 1 176103152 176103152 single base substitution C T intron_variant OV-AU 1 176106753 176106753 single base substitution C G intron_variant OV-AU 1 176106753 176106753 single base substitution C G upstream_gene_variant OV-AU 1 176112653 176112653 single base substitution A G intron_variant OV-AU 1 176125774 176125774 single base substitution G A intron_variant OV-AU 1 176128816 176128816 single base substitution G C intron_variant OV-AU 1 176140484 176140484 single base substitution T A intron_variant OV-AU 1 176143071 176143071 single base substitution C T intron_variant OV-AU 1 176147955 176147955 single base substitution C A intron_variant OV-AU 1 176148132 176148132 single base substitution T A intron_variant OV-AU 1 176148445 176148445 single base substitution T C intron_variant OV-AU 1 176152164 176152164 single base substitution T C intron_variant OV-AU 1 176153106 176153106 single base substitution C G intron_variant OV-AU 1 176160292 176160292 single base substitution A T intron_variant OV-AU 1 176160508 176160508 single base substitution C T intron_variant OV-AU 1 176164040 176164040 single base substitution T A intron_variant OV-AU 1 176164478 176164478 single base substitution G A intron_variant OV-AU 1 176167615 176167615 single base substitution C T intron_variant OV-AU 1 176173916 176173916 single base substitution G C intron_variant PACA-AU 1 175909612 175909612 single base substitution A T downstream_gene_variant PACA-AU 1 175909957 175909957 single base substitution A C downstream_gene_variant PACA-AU 1 175912115 175912115 single base substitution T G downstream_gene_variant PACA-AU 1 175913115 175913115 single base substitution C A downstream_gene_variant PACA-AU 1 175918398 175918398 single base substitution G T intron_variant PACA-AU 1 175918398 175918398 single base substitution G T upstream_gene_variant PACA-AU 1 175923197 175923197 single base substitution C T intron_variant PACA-AU 1 175924866 175924866 single base substitution T G intron_variant PACA-AU 1 175925640 175925640 single base substitution A C intron_variant PACA-AU 1 175925846 175925846 single base substitution G A intron_variant PACA-AU 1 175928803 175928803 single base substitution C G intron_variant PACA-AU 1 175932115 175932115 single base substitution T C intron_variant PACA-AU 1 175934921 175934921 single base substitution T G intron_variant PACA-AU 1 175936060 175936060 single base substitution A C intron_variant PACA-AU 1 175937916 175937916 single base substitution T A intron_variant PACA-AU 1 175943337 175943337 single base substitution T C intron_variant PACA-AU 1 175946251 175946251 single base substitution C A intron_variant PACA-AU 1 175950233 175950233 single base substitution T C intron_variant PACA-AU 1 175952378 175952378 single base substitution C G intron_variant PACA-AU 1 175958691 175958691 insertion of <=200bp - T intron_variant PACA-AU 1 175961892 175961892 single base substitution G C intron_variant PACA-AU 1 175967015 175967015 single base substitution C T intron_variant PACA-AU 1 175969630 175969630 single base substitution G A intron_variant PACA-AU 1 175970129 175970129 single base substitution G T intron_variant PACA-AU 1 175977190 175977190 deletion of <=200bp T - intron_variant PACA-AU 1 175981807 175981807 single base substitution T A intron_variant PACA-AU 1 175985877 175985877 single base substitution A T intron_variant PACA-AU 1 175987246 175987246 single base substitution C T intron_variant PACA-AU 1 175996565 175996565 single base substitution T C intron_variant PACA-AU 1 176000850 176000850 single base substitution C T intron_variant PACA-AU 1 176005028 176005028 single base substitution A T intron_variant PACA-AU 1 176007599 176007599 single base substitution G A downstream_gene_variant PACA-AU 1 176007599 176007599 single base substitution G A intron_variant PACA-AU 1 176009138 176009138 single base substitution T G downstream_gene_variant PACA-AU 1 176009138 176009138 single base substitution T G intron_variant PACA-AU 1 176010305 176010305 single base substitution G A downstream_gene_variant PACA-AU 1 176010305 176010305 single base substitution G A intron_variant PACA-AU 1 176010900 176010900 single base substitution G A downstream_gene_variant PACA-AU 1 176010900 176010900 single base substitution G A intron_variant PACA-AU 1 176012966 176012966 insertion of <=200bp - A intron_variant PACA-AU 1 176018364 176018364 single base substitution G A intron_variant PACA-AU 1 176018453 176018453 single base substitution C T intron_variant PACA-AU 1 176020013 176020013 single base substitution G A intron_variant PACA-AU 1 176020704 176020704 single base substitution C T intron_variant PACA-AU 1 176021196 176021196 single base substitution C T intron_variant PACA-AU 1 176021937 176021938 deletion of <=200bp AT - intron_variant PACA-AU 1 176022028 176022028 single base substitution G A intron_variant PACA-AU 1 176023999 176023999 single base substitution C T intron_variant PACA-AU 1 176032095 176032095 single base substitution A C intron_variant PACA-AU 1 176034848 176034848 single base substitution T G intron_variant PACA-AU 1 176035275 176035275 single base substitution C T intron_variant PACA-AU 1 176036921 176036921 single base substitution A T intron_variant PACA-AU 1 176044646 176044646 single base substitution G C intron_variant PACA-AU 1 176052151 176052151 single base substitution C A downstream_gene_variant PACA-AU 1 176052151 176052151 single base substitution C A intron_variant PACA-AU 1 176052151 176052151 single base substitution C A upstream_gene_variant PACA-AU 1 176061094 176061094 insertion of <=200bp - A intron_variant PACA-AU 1 176061653 176061653 single base substitution C T intron_variant PACA-AU 1 176063168 176063168 single base substitution G A intron_variant PACA-AU 1 176065362 176065362 single base substitution C G intron_variant PACA-AU 1 176066826 176066826 single base substitution G A intron_variant PACA-AU 1 176067266 176067266 single base substitution G A intron_variant PACA-AU 1 176068807 176068807 single base substitution C T intron_variant PACA-AU 1 176071731 176071739 deletion of <=200bp AAAAACATG - intron_variant PACA-AU 1 176073179 176073179 single base substitution C T intron_variant PACA-AU 1 176073316 176073316 single base substitution T G intron_variant PACA-AU 1 176074228 176074228 single base substitution G A intron_variant PACA-AU 1 176074242 176074242 single base substitution G C intron_variant PACA-AU 1 176074593 176074593 single base substitution T C intron_variant PACA-AU 1 176074609 176074609 single base substitution C T intron_variant PACA-AU 1 176074735 176074735 single base substitution C T intron_variant PACA-AU 1 176076584 176076584 single base substitution C G intron_variant PACA-AU 1 176077685 176077692 deletion of <=200bp CTCCCTTC - intron_variant PACA-AU 1 176080722 176080722 single base substitution C A intron_variant PACA-AU 1 176081598 176081598 insertion of <=200bp - G downstream_gene_variant PACA-AU 1 176081598 176081598 insertion of <=200bp - G intron_variant PACA-AU 1 176081761 176081761 single base substitution C T downstream_gene_variant PACA-AU 1 176081761 176081761 single base substitution C T intron_variant PACA-AU 1 176082602 176082602 single base substitution C T downstream_gene_variant PACA-AU 1 176082602 176082602 single base substitution C T intron_variant PACA-AU 1 176086533 176086533 single base substitution A T intron_variant PACA-AU 1 176086554 176086554 single base substitution G A intron_variant PACA-AU 1 176087343 176087343 single base substitution A G intron_variant PACA-AU 1 176087909 176087909 single base substitution A C intron_variant PACA-AU 1 176088173 176088173 single base substitution C G intron_variant PACA-AU 1 176090521 176090521 single base substitution G C intron_variant PACA-AU 1 176090801 176090801 single base substitution T A intron_variant PACA-AU 1 176092748 176092748 deletion of <=200bp T - intron_variant PACA-AU 1 176094135 176094135 single base substitution T C intron_variant PACA-AU 1 176096385 176096385 single base substitution T A intron_variant PACA-AU 1 176100181 176100181 single base substitution A C downstream_gene_variant PACA-AU 1 176100181 176100181 single base substitution A C intron_variant PACA-AU 1 176105819 176105819 single base substitution A C intron_variant PACA-AU 1 176105819 176105819 single base substitution A C upstream_gene_variant PACA-AU 1 176106064 176106064 single base substitution A T intron_variant PACA-AU 1 176106064 176106064 single base substitution A T upstream_gene_variant PACA-AU 1 176111725 176111725 single base substitution A T intron_variant PACA-AU 1 176113814 176113814 single base substitution G A intron_variant PACA-AU 1 176115320 176115320 single base substitution C T intron_variant PACA-AU 1 176119645 176119645 single base substitution G C intron_variant PACA-AU 1 176123795 176123795 single base substitution G A intron_variant PACA-AU 1 176123801 176123801 single base substitution C A intron_variant PACA-AU 1 176133966 176133966 insertion of <=200bp - A intron_variant PACA-AU 1 176144257 176144257 single base substitution A C intron_variant PACA-AU 1 176153721 176153721 deletion of <=200bp A - intron_variant PACA-AU 1 176155043 176155043 single base substitution C G intron_variant PACA-AU 1 176155043 176155043 single base substitution C G upstream_gene_variant PACA-AU 1 176155488 176155488 single base substitution A T intron_variant PACA-AU 1 176155488 176155488 single base substitution A T upstream_gene_variant PACA-AU 1 176161587 176161587 single base substitution G A intron_variant PACA-AU 1 176165278 176165278 single base substitution A C intron_variant PACA-AU 1 176171440 176171440 single base substitution C A intron_variant PACA-AU 1 176172199 176172199 single base substitution C T intron_variant PACA-AU 1 176173583 176173583 single base substitution G A intron_variant PACA-AU 1 176173631 176173631 single base substitution A G intron_variant PACA-AU 1 176178821 176178821 single base substitution G A upstream_gene_variant PACA-CA 1 175911318 175911318 single base substitution T G downstream_gene_variant PACA-CA 1 175911551 175911551 single base substitution T C downstream_gene_variant PACA-CA 1 175913059 175913059 single base substitution G A downstream_gene_variant PACA-CA 1 175915346 175915346 single base substitution C T intron_variant PACA-CA 1 175916261 175916261 single base substitution T C intron_variant PACA-CA 1 175920006 175920006 single base substitution C T intron_variant PACA-CA 1 175920006 175920006 single base substitution C T upstream_gene_variant PACA-CA 1 175920342 175920342 single base substitution G A intron_variant PACA-CA 1 175920342 175920342 single base substitution G A upstream_gene_variant PACA-CA 1 175923479 175923479 single base substitution T C intron_variant PACA-CA 1 175925325 175925325 single base substitution G A intron_variant PACA-CA 1 175925585 175925585 single base substitution G C intron_variant PACA-CA 1 175929775 175929775 single base substitution C T intron_variant PACA-CA 1 175932588 175932599 deletion of <=200bp ACAGCCAGCCCG - intron_variant PACA-CA 1 175932673 175932673 deletion of <=200bp T - intron_variant PACA-CA 1 175934703 175934704 deletion of <=200bp GT - intron_variant PACA-CA 1 175934849 175934868 deletion of <=200bp TGAGTAGCTGGGATTACATG - intron_variant PACA-CA 1 175935699 175935699 single base substitution T C intron_variant PACA-CA 1 175937194 175937194 single base substitution G T intron_variant PACA-CA 1 175938106 175938106 deletion of <=200bp A - intron_variant PACA-CA 1 175939636 175939636 single base substitution G A intron_variant PACA-CA 1 175945415 175945415 single base substitution T C intron_variant PACA-CA 1 175945506 175945506 single base substitution C A intron_variant PACA-CA 1 175946861 175946861 single base substitution T C intron_variant PACA-CA 1 175951332 175951332 single base substitution A C intron_variant PACA-CA 1 175952233 175952233 single base substitution C G intron_variant PACA-CA 1 175954223 175954223 single base substitution G C intron_variant PACA-CA 1 175954490 175954490 single base substitution T A intron_variant PACA-CA 1 175962269 175962269 single base substitution G A intron_variant PACA-CA 1 175965855 175965855 single base substitution C T intron_variant PACA-CA 1 175968786 175968786 single base substitution T A intron_variant PACA-CA 1 175974162 175974162 single base substitution C G intron_variant PACA-CA 1 175975874 175975874 single base substitution C T intron_variant PACA-CA 1 175976432 175976432 single base substitution C T intron_variant PACA-CA 1 175978674 175978674 single base substitution T G intron_variant PACA-CA 1 175985285 175985285 insertion of <=200bp - T intron_variant PACA-CA 1 175988107 175988107 single base substitution G T intron_variant PACA-CA 1 175993996 175993996 single base substitution G T intron_variant PACA-CA 1 175995330 175995330 single base substitution G C intron_variant PACA-CA 1 175997577 175997577 single base substitution T C intron_variant PACA-CA 1 175997905 175997905 single base substitution G C intron_variant PACA-CA 1 176001144 176001144 single base substitution G A intron_variant PACA-CA 1 176001268 176001268 single base substitution A T intron_variant PACA-CA 1 176008035 176008035 single base substitution C A downstream_gene_variant PACA-CA 1 176008035 176008035 single base substitution C A intron_variant PACA-CA 1 176009012 176009012 single base substitution T G downstream_gene_variant PACA-CA 1 176009012 176009012 single base substitution T G intron_variant PACA-CA 1 176010950 176010950 single base substitution A T downstream_gene_variant PACA-CA 1 176010950 176010950 single base substitution A T intron_variant PACA-CA 1 176012841 176012841 single base substitution T G intron_variant PACA-CA 1 176012841 176012841 single base substitution T G splice_region_variant PACA-CA 1 176014372 176014372 single base substitution A T intron_variant PACA-CA 1 176016033 176016033 single base substitution T C intron_variant PACA-CA 1 176016113 176016113 single base substitution T A intron_variant PACA-CA 1 176020466 176020466 single base substitution A G intron_variant PACA-CA 1 176023522 176023522 deletion of <=200bp T - intron_variant PACA-CA 1 176026028 176026028 single base substitution G A intron_variant PACA-CA 1 176027142 176027142 single base substitution C G intron_variant PACA-CA 1 176032084 176032084 single base substitution T C intron_variant PACA-CA 1 176033403 176033404 deletion of <=200bp TT - intron_variant PACA-CA 1 176036234 176036234 single base substitution G A intron_variant PACA-CA 1 176040510 176040510 single base substitution C G intron_variant PACA-CA 1 176041227 176041227 single base substitution G T intron_variant PACA-CA 1 176041608 176041608 single base substitution A C intron_variant PACA-CA 1 176043626 176043626 insertion of <=200bp - A intron_variant PACA-CA 1 176045921 176045921 single base substitution G A intron_variant PACA-CA 1 176049867 176049867 single base substitution C G intron_variant PACA-CA 1 176050363 176050363 single base substitution C G 3_prime_UTR_variant PACA-CA 1 176050363 176050363 single base substitution C G downstream_gene_variant PACA-CA 1 176050363 176050363 single base substitution C G exon_variant PACA-CA 1 176050363 176050363 single base substitution C G missense_variant R120P 359G>C PACA-CA 1 176050363 176050363 single base substitution C G missense_variant R236P 707G>C PACA-CA 1 176050363 176050363 single base substitution C G missense_variant R377P 1130G>C PACA-CA 1 176050363 176050363 single base substitution C G missense_variant R401P 1202G>C PACA-CA 1 176053596 176053596 single base substitution T C downstream_gene_variant PACA-CA 1 176053596 176053596 single base substitution T C intron_variant PACA-CA 1 176053596 176053596 single base substitution T C upstream_gene_variant PACA-CA 1 176054243 176054243 single base substitution C G downstream_gene_variant PACA-CA 1 176054243 176054243 single base substitution C G intron_variant PACA-CA 1 176054243 176054243 single base substitution C G upstream_gene_variant PACA-CA 1 176057854 176057854 single base substitution G A intron_variant PACA-CA 1 176060350 176060350 single base substitution T C intron_variant PACA-CA 1 176061688 176061688 single base substitution G C intron_variant PACA-CA 1 176061998 176061998 single base substitution G A intron_variant PACA-CA 1 176063030 176063030 single base substitution A G intron_variant PACA-CA 1 176065310 176065310 single base substitution G T intron_variant PACA-CA 1 176066062 176066062 single base substitution T C intron_variant PACA-CA 1 176068134 176068134 single base substitution A T intron_variant PACA-CA 1 176070551 176070551 single base substitution G A intron_variant PACA-CA 1 176072241 176072241 single base substitution A T intron_variant PACA-CA 1 176072360 176072360 single base substitution G A intron_variant PACA-CA 1 176072574 176072574 insertion of <=200bp - G intron_variant PACA-CA 1 176073691 176073691 single base substitution T A intron_variant PACA-CA 1 176078111 176078111 single base substitution G A intron_variant PACA-CA 1 176078172 176078172 single base substitution C T intron_variant PACA-CA 1 176080140 176080140 single base substitution T G intron_variant PACA-CA 1 176081441 176081441 deletion of <=200bp T - downstream_gene_variant PACA-CA 1 176081441 176081441 deletion of <=200bp T - intron_variant PACA-CA 1 176082599 176082599 single base substitution C G downstream_gene_variant PACA-CA 1 176082599 176082599 single base substitution C G intron_variant PACA-CA 1 176085709 176085709 single base substitution T A downstream_gene_variant PACA-CA 1 176085709 176085709 single base substitution T A intron_variant PACA-CA 1 176089714 176089714 single base substitution A G intron_variant PACA-CA 1 176090080 176090080 single base substitution C A intron_variant PACA-CA 1 176090100 176090100 single base substitution C T intron_variant PACA-CA 1 176090183 176090183 insertion of <=200bp - T intron_variant PACA-CA 1 176091923 176091923 deletion of <=200bp T - intron_variant PACA-CA 1 176092294 176092294 insertion of <=200bp - A intron_variant PACA-CA 1 176098549 176098549 single base substitution C G intron_variant PACA-CA 1 176101617 176101617 single base substitution A G downstream_gene_variant PACA-CA 1 176101617 176101617 single base substitution A G intron_variant PACA-CA 1 176102328 176102328 single base substitution G A downstream_gene_variant PACA-CA 1 176102328 176102328 single base substitution G A intron_variant PACA-CA 1 176102334 176102334 single base substitution G A downstream_gene_variant PACA-CA 1 176102334 176102334 single base substitution G A intron_variant PACA-CA 1 176105308 176105308 single base substitution A G intron_variant PACA-CA 1 176105308 176105308 single base substitution A G upstream_gene_variant PACA-CA 1 176111016 176111016 single base substitution G A intron_variant PACA-CA 1 176113229 176113229 single base substitution C G intron_variant PACA-CA 1 176113960 176113960 single base substitution A G intron_variant PACA-CA 1 176115687 176115687 single base substitution A C intron_variant PACA-CA 1 176116474 176116474 single base substitution G C intron_variant PACA-CA 1 176120131 176120131 insertion of <=200bp - A intron_variant PACA-CA 1 176121236 176121236 single base substitution G A intron_variant PACA-CA 1 176121985 176121985 single base substitution T A intron_variant PACA-CA 1 176123162 176123162 deletion of <=200bp A - intron_variant PACA-CA 1 176123624 176123624 single base substitution A G intron_variant PACA-CA 1 176123744 176123744 single base substitution G A intron_variant PACA-CA 1 176124201 176124201 single base substitution G C intron_variant PACA-CA 1 176125448 176125448 single base substitution T C intron_variant PACA-CA 1 176126346 176126346 single base substitution C A intron_variant PACA-CA 1 176131837 176131837 single base substitution G A intron_variant PACA-CA 1 176136656 176136656 single base substitution G A intron_variant PACA-CA 1 176137560 176137560 single base substitution G A intron_variant PACA-CA 1 176138167 176138167 single base substitution C G intron_variant PACA-CA 1 176145160 176145160 deletion of <=200bp A - intron_variant PACA-CA 1 176146746 176146746 insertion of <=200bp - A intron_variant PACA-CA 1 176146782 176146782 single base substitution T C intron_variant PACA-CA 1 176149178 176149178 single base substitution C A intron_variant PACA-CA 1 176149884 176149884 insertion of <=200bp - A intron_variant PACA-CA 1 176152123 176152123 single base substitution T A intron_variant PACA-CA 1 176154224 176154224 single base substitution A G intron_variant PACA-CA 1 176154224 176154224 single base substitution A G upstream_gene_variant PACA-CA 1 176155478 176155478 single base substitution C A intron_variant PACA-CA 1 176155478 176155478 single base substitution C A upstream_gene_variant PACA-CA 1 176155507 176155507 single base substitution A C intron_variant PACA-CA 1 176155507 176155507 single base substitution A C upstream_gene_variant PACA-CA 1 176161432 176161432 single base substitution C A intron_variant PACA-CA 1 176162651 176162651 single base substitution C T intron_variant PACA-CA 1 176167569 176167569 single base substitution C T intron_variant PACA-CA 1 176167905 176167905 single base substitution C T intron_variant PACA-CA 1 176168263 176168263 single base substitution C T intron_variant PACA-CA 1 176168463 176168463 insertion of <=200bp - A intron_variant PACA-CA 1 176175107 176175107 single base substitution T C intron_variant PAEN-AU 1 175924272 175924272 single base substitution A C intron_variant PAEN-AU 1 175933334 175933334 single base substitution G A intron_variant PAEN-AU 1 175945874 175945874 single base substitution C T intron_variant PAEN-AU 1 175971229 175971229 single base substitution T A intron_variant PAEN-AU 1 176010483 176010483 insertion of <=200bp - TTTTTTC downstream_gene_variant PAEN-AU 1 176010483 176010483 insertion of <=200bp - TTTTTTC intron_variant PAEN-AU 1 176011648 176011648 single base substitution G A downstream_gene_variant PAEN-AU 1 176011648 176011648 single base substitution G A intron_variant PAEN-IT 1 175923885 175923885 single base substitution C G intron_variant PAEN-IT 1 175977014 175977014 single base substitution C G intron_variant PAEN-IT 1 176044187 176044187 single base substitution T C intron_variant PAEN-IT 1 176062497 176062497 single base substitution T C intron_variant PAEN-IT 1 176134533 176134533 single base substitution T G intron_variant PAEN-IT 1 176155060 176155060 single base substitution T C intron_variant PAEN-IT 1 176155060 176155060 single base substitution T C upstream_gene_variant PAEN-IT 1 176175077 176175077 single base substitution G T intron_variant PBCA-DE 1 175917077 175917077 single base substitution C T intron_variant PBCA-DE 1 175917077 175917077 single base substitution C T upstream_gene_variant PBCA-DE 1 175917486 175917486 single base substitution A G intron_variant PBCA-DE 1 175917486 175917486 single base substitution A G upstream_gene_variant PBCA-DE 1 175927368 175927368 single base substitution G A intron_variant PBCA-DE 1 175930616 175930616 single base substitution A T intron_variant PBCA-DE 1 175931046 175931046 deletion of <=200bp A - intron_variant PBCA-DE 1 175932809 175932809 single base substitution T C intron_variant PBCA-DE 1 175947893 175947894 deletion of <=200bp AG - intron_variant PBCA-DE 1 175954891 175954891 single base substitution T C intron_variant PBCA-DE 1 175959684 175959684 single base substitution C G intron_variant PBCA-DE 1 175960278 175960278 single base substitution G T intron_variant PBCA-DE 1 175967620 175967620 insertion of <=200bp - A intron_variant PBCA-DE 1 175979173 175979173 single base substitution A G intron_variant PBCA-DE 1 175979421 175979421 single base substitution C A intron_variant PBCA-DE 1 175982433 175982433 single base substitution G T intron_variant PBCA-DE 1 175982702 175982702 single base substitution A C intron_variant PBCA-DE 1 175983695 175983695 single base substitution A G intron_variant PBCA-DE 1 175989812 175989812 insertion of <=200bp - CAA intron_variant PBCA-DE 1 176009813 176009813 single base substitution C T downstream_gene_variant PBCA-DE 1 176009813 176009813 single base substitution C T intron_variant PBCA-DE 1 176015185 176015185 single base substitution T C intron_variant PBCA-DE 1 176025648 176025648 insertion of <=200bp - GT intron_variant PBCA-DE 1 176025648 176025649 deletion of <=200bp GT - intron_variant PBCA-DE 1 176031944 176031944 single base substitution T C intron_variant PBCA-DE 1 176036804 176036804 single base substitution C T intron_variant PBCA-DE 1 176051942 176051942 insertion of <=200bp - A downstream_gene_variant PBCA-DE 1 176051942 176051942 insertion of <=200bp - A intron_variant PBCA-DE 1 176051942 176051942 insertion of <=200bp - A upstream_gene_variant PBCA-DE 1 176073206 176073211 deletion of <=200bp ACAGAA - intron_variant PBCA-DE 1 176076481 176076481 single base substitution T A intron_variant PBCA-DE 1 176110463 176110463 single base substitution C T intron_variant PBCA-DE 1 176134823 176134823 insertion of <=200bp - AAAT intron_variant PBCA-DE 1 176135954 176135954 single base substitution T A intron_variant PBCA-DE 1 176137199 176137199 insertion of <=200bp - T intron_variant PRAD-CA 1 175918027 175918027 single base substitution G A intron_variant PRAD-CA 1 175918027 175918027 single base substitution G A upstream_gene_variant PRAD-CA 1 175990762 175990762 single base substitution G C intron_variant PRAD-CA 1 175996068 175996068 single base substitution G T intron_variant PRAD-CA 1 176005656 176005656 single base substitution A C intron_variant PRAD-CA 1 176015343 176015343 single base substitution A T 3_prime_UTR_variant PRAD-CA 1 176015343 176015343 single base substitution A T exon_variant PRAD-CA 1 176015343 176015343 single base substitution A T missense_variant N184K 552T>A PRAD-CA 1 176015343 176015343 single base substitution A T missense_variant N300K 900T>A PRAD-CA 1 176015343 176015343 single base substitution A T missense_variant N441K 1323T>A PRAD-CA 1 176015343 176015343 single base substitution A T missense_variant N465K 1395T>A PRAD-CA 1 176052634 176052634 single base substitution C T downstream_gene_variant PRAD-CA 1 176052634 176052634 single base substitution C T intron_variant PRAD-CA 1 176052634 176052634 single base substitution C T upstream_gene_variant PRAD-CA 1 176059610 176059610 single base substitution A T intron_variant PRAD-CA 1 176060494 176060494 single base substitution A C intron_variant PRAD-CA 1 176063168 176063168 single base substitution G A intron_variant PRAD-CA 1 176073179 176073179 single base substitution C T intron_variant PRAD-CA 1 176074593 176074593 single base substitution T C intron_variant PRAD-CA 1 176091449 176091449 single base substitution G C intron_variant PRAD-CA 1 176102296 176102296 single base substitution A G downstream_gene_variant PRAD-CA 1 176102296 176102296 single base substitution A G intron_variant PRAD-CA 1 176120492 176120492 single base substitution A G intron_variant PRAD-CA 1 176120504 176120504 single base substitution A G intron_variant PRAD-CA 1 176136363 176136363 single base substitution T C intron_variant PRAD-CA 1 176140312 176140312 single base substitution C G intron_variant PRAD-CA 1 176178484 176178484 single base substitution C T upstream_gene_variant PRAD-UK 1 175909569 175909569 single base substitution C A downstream_gene_variant PRAD-UK 1 175917486 175917486 single base substitution A G intron_variant PRAD-UK 1 175917486 175917486 single base substitution A G upstream_gene_variant PRAD-UK 1 175924067 175924067 single base substitution T A intron_variant PRAD-UK 1 175926580 175926580 single base substitution C A intron_variant PRAD-UK 1 175931670 175931670 deletion of <=200bp T - intron_variant PRAD-UK 1 175947446 175947446 single base substitution T A intron_variant PRAD-UK 1 175951905 175951905 single base substitution A C intron_variant PRAD-UK 1 175962967 175962967 single base substitution T G intron_variant PRAD-UK 1 175967656 175967656 single base substitution G A intron_variant PRAD-UK 1 175989018 175989018 single base substitution C G intron_variant PRAD-UK 1 175999636 175999636 single base substitution A C intron_variant PRAD-UK 1 176005862 176005862 single base substitution A G intron_variant PRAD-UK 1 176009898 176009898 single base substitution C T downstream_gene_variant PRAD-UK 1 176009898 176009898 single base substitution C T intron_variant PRAD-UK 1 176019804 176019804 single base substitution T C intron_variant PRAD-UK 1 176031310 176031310 single base substitution T G intron_variant PRAD-UK 1 176041457 176041457 single base substitution T A intron_variant PRAD-UK 1 176052580 176052580 single base substitution G C downstream_gene_variant PRAD-UK 1 176052580 176052580 single base substitution G C intron_variant PRAD-UK 1 176052580 176052580 single base substitution G C upstream_gene_variant PRAD-UK 1 176057322 176057322 single base substitution C T intron_variant PRAD-UK 1 176060072 176060072 single base substitution G C intron_variant PRAD-UK 1 176077753 176077753 single base substitution G C intron_variant PRAD-UK 1 176083632 176083632 single base substitution A G downstream_gene_variant PRAD-UK 1 176083632 176083632 single base substitution A G intron_variant PRAD-UK 1 176097111 176097111 single base substitution G A intron_variant PRAD-UK 1 176110293 176110293 single base substitution C G intron_variant PRAD-UK 1 176116970 176116970 insertion of <=200bp - A intron_variant PRAD-UK 1 176137123 176137123 single base substitution G T intron_variant PRAD-UK 1 176138230 176138230 single base substitution T C intron_variant PRAD-UK 1 176143492 176143492 single base substitution C T intron_variant PRAD-UK 1 176158683 176158683 single base substitution A G intron_variant PRAD-UK 1 176158683 176158683 single base substitution A G upstream_gene_variant PRAD-UK 1 176177784 176177784 insertion of <=200bp - A upstream_gene_variant PRAD-UK 1 176177793 176177793 insertion of <=200bp - A upstream_gene_variant READ-US 1 175956140 175956140 single base substitution C T 3_prime_UTR_variant READ-US 1 175956140 175956140 single base substitution C T exon_variant READ-US 1 175956140 175956140 single base substitution C T missense_variant R526Q 1577G>A READ-US 1 175956140 175956140 single base substitution C T missense_variant R667Q 2000G>A READ-US 1 175956140 175956140 single base substitution C T missense_variant R691Q 2072G>A READ-US 1 176085770 176085770 single base substitution C T 3_prime_UTR_variant READ-US 1 176085770 176085770 single base substitution C T downstream_gene_variant READ-US 1 176085770 176085770 single base substitution C T missense_variant G174D 521G>A READ-US 1 176085770 176085770 single base substitution C T missense_variant G178D 533G>A READ-US 1 176085770 176085770 single base substitution C T missense_variant G315D 944G>A READ-US 1 176085770 176085770 single base substitution C T missense_variant G339D 1016G>A READ-US 1 176085770 176085770 single base substitution C T missense_variant G58D 173G>A RECA-EU 1 175928658 175928658 single base substitution T A intron_variant RECA-EU 1 175929317 175929317 single base substitution A C intron_variant RECA-EU 1 175943452 175943452 single base substitution A T intron_variant RECA-EU 1 175957789 175957789 single base substitution C T exon_variant RECA-EU 1 175957789 175957789 single base substitution C T intron_variant RECA-EU 1 175967833 175967833 single base substitution G C intron_variant RECA-EU 1 175973981 175973981 single base substitution G A intron_variant RECA-EU 1 175978829 175978829 single base substitution T G intron_variant RECA-EU 1 175984614 175984614 single base substitution T G intron_variant RECA-EU 1 175987725 175987725 single base substitution A T intron_variant RECA-EU 1 175988428 175988428 single base substitution G A intron_variant RECA-EU 1 175992871 175992871 single base substitution A G intron_variant RECA-EU 1 175992950 175992950 single base substitution C A intron_variant RECA-EU 1 175993796 175993796 single base substitution T G intron_variant RECA-EU 1 176034804 176034804 single base substitution C A intron_variant RECA-EU 1 176034843 176034843 single base substitution T G intron_variant RECA-EU 1 176043964 176043964 single base substitution C T intron_variant RECA-EU 1 176051508 176051508 single base substitution G T downstream_gene_variant RECA-EU 1 176051508 176051508 single base substitution G T intron_variant RECA-EU 1 176051508 176051508 single base substitution G T upstream_gene_variant RECA-EU 1 176056461 176056461 single base substitution T A intron_variant RECA-EU 1 176062570 176062570 single base substitution C T intron_variant RECA-EU 1 176074517 176074517 single base substitution A T intron_variant RECA-EU 1 176078878 176078878 single base substitution A C intron_variant RECA-EU 1 176079361 176079361 single base substitution G A intron_variant RECA-EU 1 176081904 176081904 single base substitution T G downstream_gene_variant RECA-EU 1 176081904 176081904 single base substitution T G intron_variant RECA-EU 1 176091505 176091505 single base substitution C T intron_variant RECA-EU 1 176092716 176092716 single base substitution A G intron_variant RECA-EU 1 176093541 176093541 single base substitution C T intron_variant RECA-EU 1 176096807 176096807 single base substitution T C intron_variant RECA-EU 1 176102237 176102237 single base substitution A G downstream_gene_variant RECA-EU 1 176102237 176102237 single base substitution A G intron_variant RECA-EU 1 176106876 176106876 single base substitution A G intron_variant RECA-EU 1 176106876 176106876 single base substitution A G upstream_gene_variant RECA-EU 1 176117623 176117623 single base substitution A G intron_variant RECA-EU 1 176128275 176128275 single base substitution A G intron_variant RECA-EU 1 176139873 176139873 single base substitution C T intron_variant RECA-EU 1 176155327 176155327 single base substitution A G intron_variant RECA-EU 1 176155327 176155327 single base substitution A G upstream_gene_variant RECA-EU 1 176163666 176163666 single base substitution A G intron_variant RECA-EU 1 176172857 176172857 single base substitution T C intron_variant RECA-EU 1 176175247 176175247 single base substitution T A intron_variant RECA-EU 1 176177189 176177189 single base substitution C A upstream_gene_variant RECA-EU 1 176177437 176177437 single base substitution G A upstream_gene_variant SKCA-BR 1 175910313 175910313 single base substitution A G downstream_gene_variant SKCA-BR 1 175912094 175912094 insertion of <=200bp - TAAA downstream_gene_variant SKCA-BR 1 175912834 175912834 insertion of <=200bp - CT downstream_gene_variant SKCA-BR 1 175915951 175915951 single base substitution C T intron_variant SKCA-BR 1 175916506 175916506 insertion of <=200bp - AT intron_variant SKCA-BR 1 175916506 175916506 insertion of <=200bp - AT upstream_gene_variant SKCA-BR 1 175918295 175918295 single base substitution G A intron_variant SKCA-BR 1 175918295 175918295 single base substitution G A upstream_gene_variant SKCA-BR 1 175918304 175918312 deletion of <=200bp CAAAAAAAA - intron_variant SKCA-BR 1 175918304 175918312 deletion of <=200bp CAAAAAAAA - upstream_gene_variant SKCA-BR 1 175920768 175920768 single base substitution G A intron_variant SKCA-BR 1 175920768 175920768 single base substitution G A upstream_gene_variant SKCA-BR 1 175922900 175922901 deletion of <=200bp TA - intron_variant SKCA-BR 1 175925376 175925376 single base substitution A T intron_variant SKCA-BR 1 175930453 175930453 single base substitution G A intron_variant SKCA-BR 1 175934324 175934324 single base substitution G C intron_variant SKCA-BR 1 175934957 175934957 single base substitution A C intron_variant SKCA-BR 1 175940591 175940591 single base substitution C T intron_variant SKCA-BR 1 175944058 175944059 deletion of <=200bp CA - intron_variant SKCA-BR 1 175945318 175945318 single base substitution G A intron_variant SKCA-BR 1 175945390 175945390 single base substitution A C intron_variant SKCA-BR 1 175946171 175946171 insertion of <=200bp - TTGTGAGTCATGGCATTAC intron_variant SKCA-BR 1 175946661 175946661 single base substitution G A intron_variant SKCA-BR 1 175946846 175946846 single base substitution A G intron_variant SKCA-BR 1 175953404 175953404 single base substitution T C intron_variant SKCA-BR 1 175954234 175954234 single base substitution T C intron_variant SKCA-BR 1 175954235 175954235 single base substitution G T intron_variant SKCA-BR 1 175955301 175955301 single base substitution A C intron_variant SKCA-BR 1 175957834 175957834 single base substitution T A exon_variant SKCA-BR 1 175957834 175957834 single base substitution T A intron_variant SKCA-BR 1 175962195 175962195 single base substitution G A intron_variant SKCA-BR 1 175963236 175963250 deletion of <=200bp AAAGAAAAGAATTTT - intron_variant SKCA-BR 1 175964806 175964806 single base substitution A C intron_variant SKCA-BR 1 175965152 175965152 single base substitution G A intron_variant SKCA-BR 1 175966726 175966726 single base substitution G A intron_variant SKCA-BR 1 175967199 175967203 deletion of <=200bp TAAAA - intron_variant SKCA-BR 1 175972112 175972112 single base substitution G C intron_variant SKCA-BR 1 175972166 175972166 single base substitution G C intron_variant SKCA-BR 1 175973535 175973535 single base substitution A G intron_variant SKCA-BR 1 175974864 175974864 single base substitution A G intron_variant SKCA-BR 1 175975618 175975618 single base substitution G A intron_variant SKCA-BR 1 175975620 175975620 single base substitution T G intron_variant SKCA-BR 1 175979592 175979592 single base substitution A T intron_variant SKCA-BR 1 175980993 175980993 single base substitution T G intron_variant SKCA-BR 1 175985877 175985877 single base substitution A T intron_variant SKCA-BR 1 175987037 175987037 single base substitution T C intron_variant SKCA-BR 1 175989662 175989662 single base substitution A T intron_variant SKCA-BR 1 175992626 175992626 single base substitution G A intron_variant SKCA-BR 1 175995578 175995587 deletion of <=200bp AAAACTTGGG - intron_variant SKCA-BR 1 175996742 175996742 single base substitution G A 3_prime_UTR_variant SKCA-BR 1 175996742 175996742 single base substitution G A exon_variant SKCA-BR 1 175996742 175996742 single base substitution G A synonymous_variant P400P 1200C>T SKCA-BR 1 175996742 175996742 single base substitution G A synonymous_variant P541P 1623C>T SKCA-BR 1 175996742 175996742 single base substitution G A synonymous_variant P565P 1695C>T SKCA-BR 1 175998688 175998688 single base substitution T A intron_variant SKCA-BR 1 175998718 175998718 single base substitution T A intron_variant SKCA-BR 1 176004846 176004847 deletion of <=200bp CA - intron_variant SKCA-BR 1 176006766 176006766 single base substitution T G intron_variant SKCA-BR 1 176008112 176008112 single base substitution G A downstream_gene_variant SKCA-BR 1 176008112 176008112 single base substitution G A intron_variant SKCA-BR 1 176009259 176009259 single base substitution T C downstream_gene_variant SKCA-BR 1 176009259 176009259 single base substitution T C intron_variant SKCA-BR 1 176010885 176010885 single base substitution G A downstream_gene_variant SKCA-BR 1 176010885 176010885 single base substitution G A intron_variant SKCA-BR 1 176011009 176011009 single base substitution G A downstream_gene_variant SKCA-BR 1 176011009 176011009 single base substitution G A intron_variant SKCA-BR 1 176011866 176011867 deletion of <=200bp CA - downstream_gene_variant SKCA-BR 1 176011866 176011867 deletion of <=200bp CA - intron_variant SKCA-BR 1 176012509 176012509 single base substitution G A intron_variant SKCA-BR 1 176014717 176014717 single base substitution G A intron_variant SKCA-BR 1 176017003 176017003 single base substitution G C intron_variant SKCA-BR 1 176018301 176018301 single base substitution C A intron_variant SKCA-BR 1 176018314 176018324 deletion of <=200bp CAAAAAAAAAA - intron_variant SKCA-BR 1 176021663 176021663 single base substitution C T intron_variant SKCA-BR 1 176024391 176024391 single base substitution G A intron_variant SKCA-BR 1 176025010 176025010 single base substitution A C intron_variant SKCA-BR 1 176025937 176025937 single base substitution T C intron_variant SKCA-BR 1 176026562 176026562 single base substitution A C intron_variant SKCA-BR 1 176026608 176026608 single base substitution T C intron_variant SKCA-BR 1 176031828 176031828 single base substitution A G intron_variant SKCA-BR 1 176033234 176033234 single base substitution G A intron_variant SKCA-BR 1 176033860 176033860 single base substitution G A intron_variant SKCA-BR 1 176034833 176034833 single base substitution G A intron_variant SKCA-BR 1 176034960 176034960 single base substitution G A intron_variant SKCA-BR 1 176035018 176035018 single base substitution A C intron_variant SKCA-BR 1 176036506 176036506 single base substitution C T intron_variant SKCA-BR 1 176038844 176038844 single base substitution A C intron_variant SKCA-BR 1 176039470 176039470 insertion of <=200bp - CT intron_variant SKCA-BR 1 176043586 176043586 single base substitution A G intron_variant SKCA-BR 1 176043797 176043797 single base substitution C T intron_variant SKCA-BR 1 176044578 176044578 single base substitution G A intron_variant SKCA-BR 1 176048597 176048597 single base substitution C A intron_variant SKCA-BR 1 176048834 176048834 single base substitution G A intron_variant SKCA-BR 1 176052395 176052395 single base substitution C T downstream_gene_variant SKCA-BR 1 176052395 176052395 single base substitution C T intron_variant SKCA-BR 1 176052395 176052395 single base substitution C T upstream_gene_variant SKCA-BR 1 176054616 176054616 single base substitution G A downstream_gene_variant SKCA-BR 1 176054616 176054616 single base substitution G A intron_variant SKCA-BR 1 176054616 176054616 single base substitution G A upstream_gene_variant SKCA-BR 1 176057174 176057174 single base substitution G A intron_variant SKCA-BR 1 176057854 176057854 single base substitution G A intron_variant SKCA-BR 1 176058250 176058250 single base substitution A T intron_variant SKCA-BR 1 176058435 176058435 insertion of <=200bp - TAACAAC intron_variant SKCA-BR 1 176060494 176060494 single base substitution A C intron_variant SKCA-BR 1 176060495 176060496 deletion of <=200bp CA - intron_variant SKCA-BR 1 176061158 176061158 single base substitution G A intron_variant SKCA-BR 1 176061766 176061766 single base substitution T A intron_variant SKCA-BR 1 176061772 176061772 single base substitution T A intron_variant SKCA-BR 1 176064982 176064982 single base substitution T A intron_variant SKCA-BR 1 176067889 176067889 single base substitution G A intron_variant SKCA-BR 1 176069240 176069240 single base substitution G A intron_variant SKCA-BR 1 176069524 176069527 deletion of <=200bp CAAA - intron_variant SKCA-BR 1 176069555 176069555 single base substitution G A intron_variant SKCA-BR 1 176076168 176076168 single base substitution A G intron_variant SKCA-BR 1 176078173 176078173 single base substitution G A intron_variant SKCA-BR 1 176086548 176086548 single base substitution A G intron_variant SKCA-BR 1 176088186 176088186 single base substitution A C intron_variant SKCA-BR 1 176089022 176089022 single base substitution A C intron_variant SKCA-BR 1 176089407 176089407 single base substitution T A intron_variant SKCA-BR 1 176089612 176089612 single base substitution G A intron_variant SKCA-BR 1 176090177 176090177 single base substitution T C intron_variant SKCA-BR 1 176090676 176090676 single base substitution C A intron_variant SKCA-BR 1 176091275 176091275 insertion of <=200bp - CA intron_variant SKCA-BR 1 176093596 176093596 single base substitution A G intron_variant SKCA-BR 1 176094239 176094239 single base substitution G A intron_variant SKCA-BR 1 176095191 176095191 single base substitution T C intron_variant SKCA-BR 1 176095423 176095423 single base substitution G T intron_variant SKCA-BR 1 176096697 176096697 insertion of <=200bp - CTGTG intron_variant SKCA-BR 1 176096697 176096697 insertion of <=200bp - CTGTGTGTG intron_variant SKCA-BR 1 176096739 176096739 single base substitution G A intron_variant SKCA-BR 1 176108415 176108428 deletion of <=200bp CAAAAAAAACAAAA - intron_variant SKCA-BR 1 176108415 176108428 deletion of <=200bp CAAAAAAAACAAAA - upstream_gene_variant SKCA-BR 1 176112259 176112259 insertion of <=200bp - CGAGAGAGAGAGA intron_variant SKCA-BR 1 176113281 176113281 single base substitution G A intron_variant SKCA-BR 1 176119468 176119468 single base substitution A C intron_variant SKCA-BR 1 176120487 176120489 deletion of <=200bp GAA - intron_variant SKCA-BR 1 176121647 176121647 single base substitution G A intron_variant SKCA-BR 1 176121922 176121922 single base substitution C G intron_variant SKCA-BR 1 176123744 176123744 single base substitution G A intron_variant SKCA-BR 1 176124393 176124393 single base substitution A T intron_variant SKCA-BR 1 176134531 176134531 insertion of <=200bp - TGG intron_variant SKCA-BR 1 176135761 176135761 single base substitution A C intron_variant SKCA-BR 1 176136580 176136580 single base substitution G A intron_variant SKCA-BR 1 176137197 176137197 single base substitution G A intron_variant SKCA-BR 1 176140579 176140579 single base substitution T G intron_variant SKCA-BR 1 176141243 176141243 single base substitution G C intron_variant SKCA-BR 1 176143143 176143143 single base substitution A G intron_variant SKCA-BR 1 176145966 176145966 single base substitution A G intron_variant SKCA-BR 1 176147485 176147485 insertion of <=200bp - AT intron_variant SKCA-BR 1 176148809 176148809 single base substitution G A intron_variant SKCA-BR 1 176152373 176152373 single base substitution G A intron_variant SKCA-BR 1 176153594 176153594 single base substitution G C intron_variant SKCA-BR 1 176164059 176164059 insertion of <=200bp - TA intron_variant SKCA-BR 1 176167439 176167439 single base substitution G A intron_variant SKCA-BR 1 176169507 176169507 single base substitution C A intron_variant SKCA-BR 1 176172795 176172795 single base substitution G T intron_variant SKCA-BR 1 176176449 176176449 single base substitution A G 5_prime_UTR_variant SKCA-BR 1 176176449 176176449 single base substitution A G upstream_gene_variant SKCA-BR 1 176176743 176176743 single base substitution G A upstream_gene_variant SKCA-BR 1 176178424 176178424 single base substitution T C upstream_gene_variant SKCA-BR 1 176178593 176178593 single base substitution C T upstream_gene_variant SKCA-BR 1 176178924 176178924 single base substitution A G upstream_gene_variant SKCM-US 1 175956224 175956224 single base substitution G A 3_prime_UTR_variant SKCM-US 1 175956224 175956224 single base substitution G A exon_variant SKCM-US 1 175956224 175956224 single base substitution G A missense_variant S498F 1493C>T SKCM-US 1 175956224 175956224 single base substitution G A missense_variant S639F 1916C>T SKCM-US 1 175956224 175956224 single base substitution G A missense_variant S663F 1988C>T SKCM-US 1 175956239 175956239 single base substitution C T missense_variant G493E 1478G>A SKCM-US 1 175956239 175956239 single base substitution C T missense_variant G634E 1901G>A SKCM-US 1 175956239 175956239 single base substitution C T missense_variant G658E 1973G>A SKCM-US 1 175956239 175956239 single base substitution C T splice_region_variant SKCM-US 1 175957522 175957522 single base substitution C G 3_prime_UTR_variant SKCM-US 1 175957522 175957522 single base substitution C G exon_variant SKCM-US 1 175957522 175957522 single base substitution C G missense_variant W460S 1379G>C SKCM-US 1 175957522 175957522 single base substitution C G missense_variant W601S 1802G>C SKCM-US 1 175957522 175957522 single base substitution C G missense_variant W625S 1874G>C SKCM-US 1 175958589 175958589 single base substitution G A 3_prime_UTR_variant SKCM-US 1 175958589 175958589 single base substitution G A exon_variant SKCM-US 1 175958589 175958589 single base substitution G A missense_variant R421C 1261C>T SKCM-US 1 175958589 175958589 single base substitution G A missense_variant R562C 1684C>T SKCM-US 1 175958589 175958589 single base substitution G A missense_variant R586C 1756C>T SKCM-US 1 176015319 176015319 single base substitution G A splice_region_variant SKCM-US 1 176050324 176050324 single base substitution G A 3_prime_UTR_variant SKCM-US 1 176050324 176050324 single base substitution G A downstream_gene_variant SKCM-US 1 176050324 176050324 single base substitution G A exon_variant SKCM-US 1 176050324 176050324 single base substitution G A missense_variant A133V 398C>T SKCM-US 1 176050324 176050324 single base substitution G A missense_variant A249V 746C>T SKCM-US 1 176050324 176050324 single base substitution G A missense_variant A390V 1169C>T SKCM-US 1 176050324 176050324 single base substitution G A missense_variant A414V 1241C>T SKCM-US 1 176054928 176054928 single base substitution C A 3_prime_UTR_variant SKCM-US 1 176054928 176054928 single base substitution C A downstream_gene_variant SKCM-US 1 176054928 176054928 single base substitution C A missense_variant R210S 630G>T SKCM-US 1 176054928 176054928 single base substitution C A missense_variant R351S 1053G>T SKCM-US 1 176054928 176054928 single base substitution C A missense_variant R375S 1125G>T SKCM-US 1 176054928 176054928 single base substitution C A missense_variant R94S 282G>T SKCM-US 1 176054928 176054928 single base substitution C A upstream_gene_variant SKCM-US 1 176132980 176132980 single base substitution A G 3_prime_UTR_variant SKCM-US 1 176132980 176132980 single base substitution A G intron_variant SKCM-US 1 176132980 176132980 single base substitution A G missense_variant F205L 613T>C SKCM-US 1 176132980 176132980 single base substitution A G missense_variant F60L 178T>C SKCM-US 1 176132980 176132980 single base substitution A G missense_variant F64L 190T>C STAD-US 1 175916354 175916354 single base substitution C T 3_prime_UTR_variant STAD-US 1 175916354 175916354 single base substitution C T exon_variant STAD-US 1 175916354 175916354 single base substitution C T missense_variant A554T 1660G>A STAD-US 1 175916354 175916354 single base substitution C T missense_variant A695T 2083G>A STAD-US 1 175916354 175916354 single base substitution C T missense_variant A719T 2155G>A STAD-US 1 175956141 175956141 single base substitution G A 3_prime_UTR_variant STAD-US 1 175956141 175956141 single base substitution G A exon_variant STAD-US 1 175956141 175956141 single base substitution G A stop_gained R526* 1576C>T STAD-US 1 175956141 175956141 single base substitution G A stop_gained R667* 1999C>T STAD-US 1 175956141 175956141 single base substitution G A stop_gained R691* 2071C>T STAD-US 1 175996767 175996767 single base substitution T C 3_prime_UTR_variant STAD-US 1 175996767 175996767 single base substitution T C exon_variant STAD-US 1 175996767 175996767 single base substitution T C missense_variant N392S 1175A>G STAD-US 1 175996767 175996767 single base substitution T C missense_variant N533S 1598A>G STAD-US 1 175996767 175996767 single base substitution T C missense_variant N557S 1670A>G STAD-US 1 176012905 176012905 single base substitution A G 3_prime_UTR_variant STAD-US 1 176012905 176012905 single base substitution A G intron_variant STAD-US 1 176012905 176012905 single base substitution A G missense_variant Y210H 628T>C STAD-US 1 176012905 176012905 single base substitution A G missense_variant Y326H 976T>C STAD-US 1 176012905 176012905 single base substitution A G missense_variant Y467H 1399T>C STAD-US 1 176012905 176012905 single base substitution A G missense_variant Y491H 1471T>C STAD-US 1 176015447 176015447 single base substitution G A 3_prime_UTR_variant STAD-US 1 176015447 176015447 single base substitution G A exon_variant STAD-US 1 176015447 176015447 single base substitution G A missense_variant R150W 448C>T STAD-US 1 176015447 176015447 single base substitution G A missense_variant R266W 796C>T STAD-US 1 176015447 176015447 single base substitution G A missense_variant R407W 1219C>T STAD-US 1 176015447 176015447 single base substitution G A missense_variant R431W 1291C>T STAD-US 1 176085813 176085813 single base substitution T C 3_prime_UTR_variant STAD-US 1 176085813 176085813 single base substitution T C missense_variant I160V 478A>G STAD-US 1 176085813 176085813 single base substitution T C missense_variant I164V 490A>G STAD-US 1 176085813 176085813 single base substitution T C missense_variant I301V 901A>G STAD-US 1 176085813 176085813 single base substitution T C missense_variant I325V 973A>G STAD-US 1 176085813 176085813 single base substitution T C missense_variant I44V 130A>G STAD-US 1 176118177 176118177 single base substitution C A 3_prime_UTR_variant STAD-US 1 176118177 176118177 single base substitution C A exon_variant STAD-US 1 176118177 176118177 single base substitution C A stop_gained E121* 361G>T STAD-US 1 176118177 176118177 single base substitution C A stop_gained E125* 373G>T STAD-US 1 176118177 176118177 single base substitution C A stop_gained E262* 784G>T STAD-US 1 176118177 176118177 single base substitution C A stop_gained E266* 796G>T STAD-US 1 176145092 176145092 single base substitution A G exon_variant STAD-US 1 176145092 176145092 single base substitution A G intron_variant STAD-US 1 176145092 176145092 single base substitution A G synonymous_variant C173C 519T>C STAD-US 1 176145092 176145092 single base substitution A G synonymous_variant C28C 84T>C STAD-US 1 176145092 176145092 single base substitution A G synonymous_variant C32C 96T>C STAD-US 1 176175737 176175737 single base substitution G T exon_variant STAD-US 1 176175737 176175737 single base substitution G T synonymous_variant S126S 378C>A STAD-US 1 176175737 176175737 single base substitution G T upstream_gene_variant THCA-SA 1 176175748 176175748 single base substitution G T exon_variant THCA-SA 1 176175748 176175748 single base substitution G T missense_variant L123I 367C>A THCA-SA 1 176175748 176175748 single base substitution G T upstream_gene_variant THCA-US 1 176054931 176054931 single base substitution T C 3_prime_UTR_variant THCA-US 1 176054931 176054931 single base substitution T C downstream_gene_variant THCA-US 1 176054931 176054931 single base substitution T C synonymous_variant T209T 627A>G THCA-US 1 176054931 176054931 single base substitution T C synonymous_variant T350T 1050A>G THCA-US 1 176054931 176054931 single base substitution T C synonymous_variant T374T 1122A>G THCA-US 1 176054931 176054931 single base substitution T C synonymous_variant T93T 279A>G THCA-US 1 176054931 176054931 single base substitution T C upstream_gene_variant UCEC-US 1 175957509 175957509 single base substitution T C 3_prime_UTR_variant UCEC-US 1 175957509 175957509 single base substitution T C exon_variant UCEC-US 1 175957509 175957509 single base substitution T C synonymous_variant K464K 1392A>G UCEC-US 1 175957509 175957509 single base substitution T C synonymous_variant K605K 1815A>G UCEC-US 1 175957509 175957509 single base substitution T C synonymous_variant K629K 1887A>G UCEC-US 1 175958605 175958605 single base substitution G T 3_prime_UTR_variant UCEC-US 1 175958605 175958605 single base substitution G T exon_variant UCEC-US 1 175958605 175958605 single base substitution G T synonymous_variant V415V 1245C>A UCEC-US 1 175958605 175958605 single base substitution G T synonymous_variant V556V 1668C>A UCEC-US 1 175958605 175958605 single base substitution G T synonymous_variant V580V 1740C>A UCEC-US 1 176050293 176050293 single base substitution G A 3_prime_UTR_variant UCEC-US 1 176050293 176050293 single base substitution G A downstream_gene_variant UCEC-US 1 176050293 176050293 single base substitution G A exon_variant UCEC-US 1 176050293 176050293 single base substitution G A synonymous_variant V143V 429C>T UCEC-US 1 176050293 176050293 single base substitution G A synonymous_variant V259V 777C>T UCEC-US 1 176050293 176050293 single base substitution G A synonymous_variant V400V 1200C>T UCEC-US 1 176050293 176050293 single base substitution G A synonymous_variant V424V 1272C>T UCEC-US 1 176054997 176054997 single base substitution C T 3_prime_UTR_variant UCEC-US 1 176054997 176054997 single base substitution C T downstream_gene_variant UCEC-US 1 176054997 176054997 single base substitution C T synonymous_variant T187T 561G>A UCEC-US 1 176054997 176054997 single base substitution C T synonymous_variant T328T 984G>A UCEC-US 1 176054997 176054997 single base substitution C T synonymous_variant T352T 1056G>A UCEC-US 1 176054997 176054997 single base substitution C T synonymous_variant T71T 213G>A UCEC-US 1 176054997 176054997 single base substitution C T upstream_gene_variant UCEC-US 1 176055021 176055021 single base substitution C A 3_prime_UTR_variant UCEC-US 1 176055021 176055021 single base substitution C A missense_variant K179N 537G>T UCEC-US 1 176055021 176055021 single base substitution C A missense_variant K183N 549G>T UCEC-US 1 176055021 176055021 single base substitution C A missense_variant K320N 960G>T UCEC-US 1 176055021 176055021 single base substitution C A missense_variant K344N 1032G>T UCEC-US 1 176055021 176055021 single base substitution C A missense_variant K63N 189G>T UCEC-US 1 176055021 176055021 single base substitution C A upstream_gene_variant UCEC-US 1 176085769 176085769 single base substitution G A 3_prime_UTR_variant UCEC-US 1 176085769 176085769 single base substitution G A downstream_gene_variant UCEC-US 1 176085769 176085769 single base substitution G A synonymous_variant G174G 522C>T UCEC-US 1 176085769 176085769 single base substitution G A synonymous_variant G178G 534C>T UCEC-US 1 176085769 176085769 single base substitution G A synonymous_variant G315G 945C>T UCEC-US 1 176085769 176085769 single base substitution G A synonymous_variant G339G 1017C>T UCEC-US 1 176085769 176085769 single base substitution G A synonymous_variant G58G 174C>T UCEC-US 1 176132077 176132077 single base substitution T G 3_prime_UTR_variant UCEC-US 1 176132077 176132077 single base substitution T G intron_variant UCEC-US 1 176132077 176132077 single base substitution T G missense_variant Q226H 678A>C UCEC-US 1 176132077 176132077 single base substitution T G missense_variant Q230H 690A>C UCEC-US 1 176132077 176132077 single base substitution T G missense_variant Q85H 255A>C UCEC-US 1 176132077 176132077 single base substitution T G missense_variant Q89H 267A>C UCEC-US 1 176132105 176132105 single base substitution A G 3_prime_UTR_variant UCEC-US 1 176132105 176132105 single base substitution A G intron_variant UCEC-US 1 176132105 176132105 single base substitution A G missense_variant I217T 650T>C UCEC-US 1 176132105 176132105 single base substitution A G missense_variant I221T 662T>C UCEC-US 1 176132105 176132105 single base substitution A G missense_variant I76T 227T>C UCEC-US 1 176132105 176132105 single base substitution A G missense_variant I80T 239T>C UCEC-US 1 176145050 176145050 single base substitution G T exon_variant UCEC-US 1 176145050 176145050 single base substitution G T intron_variant UCEC-US 1 176145050 176145050 single base substitution G T missense_variant F187L 561C>A UCEC-US 1 176145050 176145050 single base substitution G T missense_variant F42L 126C>A UCEC-US 1 176145050 176145050 single base substitution G T missense_variant F46L 138C>A

Mutation - COSMIC Sample Name Mutation ID Mutation CDS Mutation AA Mutation Description Mutation Genome Position Mutation Strand C135 COSM4610919 c.1931delA p.N644fs*3 Deletion - Frameshift 1:175988329-175988329 - TCGA-DH-5140-01 COSM3966056 c.692A>G p.D231G Substitution - Missense 1:176162939-176162939 - LUAD-S00488 COSM395135 c.1746C>T p.Y582Y Substitution - coding silent 1:175989463-175989463 - SWE-10 COSM1178763 c.1576C>T p.P526S Substitution - Missense 1:176043222-176043222 - TCGA-DD-A39Z-01 COSM4915924 c.1792C>T p.H598Y Substitution - Missense 1:175989417-175989417 - S02249 COSM5679944 c.1982A>G p.N661S Substitution - Missense 1:175987094-175987094 - PT08_2 COSM5895236 c.1142-7_1142-6insT p.? Unknown 1:176081293-176081294 - 7313 COSM5613822 c.1276A>G p.S426G Substitution - Missense 1:176081153-176081153 - ESO-117 COSM1264051 c.2059C>G p.L687V Substitution - Missense 1:175987017-175987017 - ESO-0292 COSM1241657 c.430G>A p.E144K Substitution - Missense 1:176184670-176184670 - LU-1991 COSM5613823 c.1150C>T p.R384* Substitution - Nonsense 1:176081279-176081279 - TCGA-43-3920-01 COSM676952 c.461G>A p.S154N Substitution - Missense 1:176184639-176184639 - HT115 COSM2093743 c.431A>C p.E144A Substitution - Missense 1:176184669-176184669 - SH-0348 COSM5019193 c.895A>G p.M299V Substitution - Missense 1:176135083-176135083 - 2293782 COSM4608242 c.832-3C>A p.? Unknown 1:176136550-176136550 - KPOPBR-60-T COSM5963717 c.173C>T p.S58L Substitution - Missense 1:176206806-176206806 - TCGA-66-2754-01 COSM676959 c.1740C>G p.V580V Substitution - coding silent 1:175989469-175989469 - TCGA-MH-A561-01 COSM3984495 c.1613-2A>G p.? Unknown 1:176027690-176027690 - TCGA-A1-A0SK-01 COSM424655 c.1543A>C p.R515R Substitution - coding silent 1:176043255-176043255 - TCGA-61-1895-01 COSM1320722 c.1736_1744delGTGTCCACT p.C579_H581delCVH Deletion - In frame 1:175989465-175989473 - HCC102 COSM1601271 c.1734C>G p.H578Q Substitution - Missense 1:175989475-175989475 - 5_RESISTANT COSM1162855 c.511C>T p.P171S Substitution - Missense 1:176175964-176175964 - TCGA-34-5239-01 COSM676954 c.638G>A p.S213N Substitution - Missense 1:176163819-176163819 - PTC_452 COSM5957995 c.367C>A p.L123I Substitution - Missense 1:176206612-176206612 - 5_PRE-TREATMENT COSM1162855 c.511C>T p.P171S Substitution - Missense 1:176175964-176175964 - TCGA-AP-A056-01 COSM899963 c.690A>C p.Q230H Substitution - Missense 1:176162941-176162941 - TCGA-AA-A00N-01 COSM277050 c.398A>G p.D133G Substitution - Missense 1:176206581-176206581 - TCGA-CG-5721-01 COSM4025370 c.519T>C p.C173C Substitution - coding silent 1:176175956-176175956 - LUAD-S00488 COSM395136 c.586C>T p.Q196* Substitution - Nonsense 1:176163871-176163871 - TCGA-EW-A1P4-01 COSM1473028 c.1557T>A p.V519V Substitution - coding silent 1:176043241-176043241 - TCGA-BR-8591-01 COSM4025371 c.378C>A p.S126S Substitution - coding silent 1:176206601-176206601 - TCGA-AP-A0LM-01 COSM899958 c.1272C>T p.V424V Substitution - coding silent 1:176081157-176081157 - TCGA-AX-A05Z-01 COSM899965 c.561C>A p.F187L Substitution - Missense 1:176175914-176175914 - H1993 COSM1196824 c.1025A>T p.Q342L Substitution - Missense 1:176116625-176116625 - SH-2871 COSM5019218 c.763-9C>T p.? Unknown 1:176149083-176149083 - LUAD-E00934 COSM393432 c.1555G>T p.V519F Substitution - Missense 1:176043243-176043243 - PT43 COSM5943494 c.1142-8delT p.? Unknown 1:176081295-176081295 - YUWAND COSM1178763 c.1576C>T p.P526S Substitution - Missense 1:176043222-176043222 - TCGA-D1-A17Q-01 COSM899960 c.1032G>T p.K344N Substitution - Missense 1:176085885-176085885 - ESO-717 COSM1242769 c.896T>C p.M299T Substitution - Missense 1:176135082-176135082 - S00050 COSM317971 c.1465A>T p.S489C Substitution - Missense 1:176043775-176043775 - TCGA-F5-6814-01 COSM3418379 c.1016G>A p.G339D Substitution - Missense 1:176116634-176116634 - TCGA-CC-5258-01 COSM4933389 c.2003A>G p.Y668C Substitution - Missense 1:175987073-175987073 - ZZUFHECRKL-G059T COSM5438251 c.360C>T p.C120C Substitution - coding silent 1:176206619-176206619 - TCGA-EB-A41B-01 COSM3478760 c.1125G>T p.R375S Substitution - Missense 1:176085792-176085792 - PT33 COSM5895236 c.1142-7_1142-6insT p.? Unknown 1:176081293-176081294 - CSCC-27-T COSM4471146 c.1701C>T p.S567S Substitution - coding silent 1:176027600-176027600 - 2171676 COSM4423416 c.1433G>A p.W478* Substitution - Nonsense 1:176043807-176043807 - TCGA-HU-A4H5-01 COSM4025369 c.796G>T p.E266* Substitution - Nonsense 1:176149041-176149041 - PT23_1 COSM5902494 c.2115G>A p.W705* Substitution - Nonsense 1:175986961-175986961 - ESO-185 COSM1264052 c.567G>A p.V189V Substitution - coding silent 1:176163890-176163890 - NYU647 COSM4770816 c.359G>T p.C120F Substitution - Missense 1:176206620-176206620 - TCGA-FD-A3N5-01 COSM1295523 c.582T>C p.L194L Substitution - coding silent 1:176163875-176163875 - SH-3776 COSM5019218 c.763-9C>T p.? Unknown 1:176149083-176149083 - PTC-54C COSM4143058 c.296T>G p.V99G Substitution - Missense 1:176206683-176206683 - 226 COSM3730134 c.1329G>C p.K443N Substitution - Missense 1:176046273-176046273 - OSCC-GB_00830111 COSM4889209 c.952C>G p.P318A Substitution - Missense 1:176135026-176135026 - TCGA-GN-A263-01 COSM3478739 c.1973G>A p.G658E Substitution - Missense 1:175987103-175987103 - LP6007594 COSM5034450 c.1613-10T>A p.? Unknown 1:176027698-176027698 - TCGA-CG-4442-01 COSM4025361 c.1471T>C p.Y491H Substitution - Missense 1:176043769-176043769 - TCGA-18-4086-01 COSM676953 c.576C>A p.L192L Substitution - coding silent 1:176163881-176163881 - TCGA-CG-4442-01 COSM4025359 c.1670A>G p.N557S Substitution - Missense 1:176027631-176027631 - PCSI_0284_Pa_P_526 COSM4964480 c.1202G>C p.R401P Substitution - Missense 1:176081227-176081227 - T3048 COSM4721195 c.1795C>T p.R599C Substitution - Missense 1:175989414-175989414 - 169 COSM3728835 c.2179-7delC p.? Unknown 1:175945177-175945177 - RMS66_ COSM4988153 c.190C>T p.P64S Substitution - Missense 1:176206789-176206789 - SH-1641 COSM5019218 c.763-9C>T p.? Unknown 1:176149083-176149083 - PD24304a COSM5787411 c.1508G>T p.G503V Substitution - Missense 1:176043732-176043732 - YUKAT COSM5378519 c.795G>A p.M265I Substitution - Missense 1:176149042-176149042 - YUJUBE COSM5378521 c.667C>T p.Q223* Substitution - Nonsense 1:176162964-176162964 - WSU-HN30 COSM4600467 c.1193A>G p.K398R Substitution - Missense 1:176081236-176081236 - TCGA-AP-A051-01 COSM899951 c.1740C>A p.V580V Substitution - coding silent 1:175989469-175989469 - TCGA-AP-A051-01 COSM899964 c.662T>C p.I221T Substitution - Missense 1:176162969-176162969 - TCGA-CU-A3KJ-01 COSM1295522 c.1147A>G p.S383G Substitution - Missense 1:176081282-176081282 - CPCG0357-F1 COSM4880085 c.1395T>A p.N465K Substitution - Missense 1:176046207-176046207 - YUQUEST COSM5378520 c.767C>T p.S256L Substitution - Missense 1:176149070-176149070 - HT115 COSM2093739 c.818G>T p.R273I Substitution - Missense 1:176149019-176149019 - 2492729 COSM5730094 c.1341C>T p.V447V Substitution - coding silent 1:176046261-176046261 - T3262 COSM4721197 c.768A>G p.S256S Substitution - coding silent 1:176149069-176149069 - 2328683 COSM4972058 c.1895delG p.C632fs*15 Deletion - Frameshift 1:175988365-175988365 - TCGA-B8-5158-01 COSM463459 c.1342T>C p.Y448H Substitution - Missense 1:176046260-176046260 - BD165T COSM5506640 c.1075C>T p.R359* Substitution - Nonsense 1:176085842-176085842 - CSCC-20-T COSM4551086 c.518G>A p.C173Y Substitution - Missense 1:176175957-176175957 - TCGA-EE-A2MS-06 COSM3478741 c.1756C>T p.R586C Substitution - Missense 1:175989453-175989453 - ME048T COSM229662 c.946G>T p.E316* Substitution - Nonsense 1:176135032-176135032 - S00050 COSM317971 c.1465A>T p.S489C Substitution - Missense 1:176043775-176043775 - TCGA-18-3411-01 COSM676957 c.1477G>T p.G493C Substitution - Missense 1:176043763-176043763 - TCGA-D3-A2JA-06 COSM3478759 c.1241C>T p.A414V Substitution - Missense 1:176081188-176081188 - RKO COSM4647454 c.302G>A p.G101D Substitution - Missense 1:176206677-176206677 - TCGA-D5-6924-01 COSM1336460 c.1390G>A p.E464K Substitution - Missense 1:176046212-176046212 - SH-7329 COSM5019218 c.763-9C>T p.? Unknown 1:176149083-176149083 - TCGA-29-2431-01 COSM1320723 c.2100T>C p.V700V Substitution - coding silent 1:175986976-175986976 - T276 COSM4721196 c.961T>C p.S321P Substitution - Missense 1:176135017-176135017 - TCGA-BR-8368-01 COSM4025354 c.2071C>T p.R691* Substitution - Nonsense 1:175987005-175987005 - TCGA-BP-5177-01 COSM463460 c.1046A>G p.Y349C Substitution - Missense 1:176085871-176085871 - TCGA-D1-A17Q-01 COSM899950 c.1887A>G p.K629K Substitution - coding silent 1:175988373-175988373 - 262LT COSM146693 c.884G>C p.R295T Substitution - Missense 1:176136495-176136495 - SH-9248 COSM5019218 c.763-9C>T p.? Unknown 1:176149083-176149083 - TCGA-DK-A1AC-01 COSM1295521 c.1517C>T p.S506L Substitution - Missense 1:176043723-176043723 - TCGA-A7-A5ZV-01 COSM3802939 c.1814C>A p.A605E Substitution - Missense 1:175989395-175989395 - T3720 COSM4721198 c.425T>G p.M142R Substitution - Missense 1:176184675-176184675 - TCGA-EE-A185-06 COSM3478740 c.1874G>C p.W625S Substitution - Missense 1:175988386-175988386 - TCGA-46-6025-01 COSM676963 c.2171C>T p.T724I Substitution - Missense 1:175947202-175947202 - SH-3458 COSM5019218 c.763-9C>T p.? Unknown 1:176149083-176149083 - SJHGG076_A COSM4971466 c.2133+3A>C p.? Unknown 1:175986940-175986940 - S01516 COSM5668909 c.1006G>T p.G336C Substitution - Missense 1:176116644-176116644 - 226 COSM3730096 c.1142-8_1142-7insT p.? Unknown 1:176081294-176081295 - TCGA-F5-6864-01 COSM3418378 c.2072G>A p.R691Q Substitution - Missense 1:175987004-175987004 - B84 COSM1747958 c.1178A>T p.Q393L Substitution - Missense 1:176081251-176081251 - SH-1679 COSM5019218 c.763-9C>T p.? Unknown 1:176149083-176149083 - CSCC-37-T COSM4471253 c.1708C>T p.H570Y Substitution - Missense 1:176027593-176027593 - TCGA-D3-A2J8-06 COSM3478753 c.1419C>T p.I473I Substitution - coding silent 1:176046183-176046183 - ESCC_BICR_041T COSM5441198 c.506G>A p.R169K Substitution - Missense 1:176175969-176175969 - TCGA-CA-6717-01 COSM1336459 c.1719C>T p.F573F Substitution - coding silent 1:176027582-176027582 - TCGA-AP-A051-01 COSM899962 c.1017C>T p.G339G Substitution - coding silent 1:176116633-176116633 - SH-7166 COSM5019218 c.763-9C>T p.? Unknown 1:176149083-176149083 - TCGA-EK-A3GK-01 COSM4853461 c.576C>G p.L192L Substitution - coding silent 1:176163881-176163881 - 2492728 COSM5730094 c.1341C>T p.V447V Substitution - coding silent 1:176046261-176046261 - TCGA-22-4601-01 COSM676960 c.2104G>C p.A702P Substitution - Missense 1:175986972-175986972 - pfg029T COSM1639625 c.2191G>C p.V731L Substitution - Missense 1:175945158-175945158 - ESCC-008T COSM3934279 c.1265G>T p.S422I Substitution - Missense 1:176081164-176081164 - TCGA-AC-A23H-01 COSM3802942 c.660G>C p.Q220H Substitution - Missense 1:176162971-176162971 - PR-3027 COSM220007 c.642+1G>A p.? Unknown 1:176163814-176163814 - SH-7282 COSM5019218 c.763-9C>T p.? Unknown 1:176149083-176149083 - sysucc-882T COSM4226238 c.2061C>T p.L687L Substitution - coding silent 1:175987015-175987015 - T3262 COSM4721194 c.2007A>G p.K669K Substitution - coding silent 1:175987069-175987069 - SH-9771 COSM5019218 c.763-9C>T p.? Unknown 1:176149083-176149083 - HN_62854 COSM125826 c.484C>G p.Q162E Substitution - Missense 1:176175991-176175991 - ESO-160 COSM899958 c.1272C>T p.V424V Substitution - coding silent 1:176081157-176081157 - SH-0348 COSM5019218 c.763-9C>T p.? Unknown 1:176149083-176149083 - PT21_2 COSM5943494 c.1142-8delT p.? Unknown 1:176081295-176081295 - TCGA-IR-A3LF-01 COSM4849501 c.1625C>G p.S542C Substitution - Missense 1:176027676-176027676 - TCGA-BR-8360-01 COSM4025362 c.1291C>T p.R431W Substitution - Missense 1:176046311-176046311 - 447 COSM4435065 c.355C>G p.L119V Substitution - Missense 1:176206624-176206624 - CHC1207T COSM4610919 c.1931delA p.N644fs*3 Deletion - Frameshift 1:175988329-175988329 - PA285 COSM1162855 c.511C>T p.P171S Substitution - Missense 1:176175964-176175964 - TCGA-AX-A06H-01 COSM899959 c.1056G>A p.T352T Substitution - coding silent 1:176085861-176085861 - B84-Tumor COSM1747958 c.1178A>T p.Q393L Substitution - Missense 1:176081251-176081251 - TCGA-EE-A2GR-06 COSM3478767 c.613T>C p.F205L Substitution - Missense 1:176163844-176163844 - TCGA-CG-5721-01 COSM4025364 c.973A>G p.I325V Substitution - Missense 1:176116677-176116677 - YUPROST COSM1689256 c.581T>G p.L194R Substitution - Missense 1:176163876-176163876 - PR-04-3347 COSM247017 c.826A>C p.R276R Substitution - coding silent 1:176149011-176149011 - GC8_T COSM146693 c.884G>C p.R295T Substitution - Missense 1:176136495-176136495 - TCGA-HU-A4G8-01 COSM4025353 c.2155G>A p.A719T Substitution - Missense 1:175947218-175947218 - pfg127T COSM4763633 c.1388C>T p.P463L Substitution - Missense 1:176046214-176046214 - 2334193 COSM323041 c.307A>T p.S103C Substitution - Missense 1:176206672-176206672 - TCGA-AK-3460-01 COSM3360508 c.674G>T p.W225L Substitution - Missense 1:176162957-176162957 - TCGA-GF-A6C9-06 COSM4900533 c.1988C>T p.S663F Substitution - Missense 1:175987088-175987088 - HCC102T COSM1601271 c.1734C>G p.H578Q Substitution - Missense 1:175989475-175989475 - TCGA-BJ-A2N9-01 COSM4413871 c.1122A>G p.T374T Substitution - coding silent 1:176085795-176085795 - ASHPC_0017_Pa_P COSM3849332 c.1530+5A>C p.? Unknown 1:176043705-176043705 - ESCC_BICR_071T COSM5433464 c.532G>T p.D178Y Substitution - Missense 1:176175943-176175943 -

Mutation - CGAP UNIGENE CYTOBAND OMIM SNP Hs.523744 1q25.1-q25.2 608067 2436328|CGAP|BC094728|C/T|non-coding||2556|Candidate

Mutation - IntOGen Mutated from(ref) Mutated to(alt) Consequence Type AA Mutation CDS Mutation Chr Pos Cancer AAGA - IntronicDeletion . c.763-2283_763-2280delCTTT 1 176120495 CLL A G IntronicSNV . c.1729+13602T>C 1 175983106 CLL A G Missense p.F205L c.613T>C 1 176132980 CM A G Synonymous p.L194L c.582T>C 1 176133011 BLCA A - IntronicDeletion . c.1847+139delT 1 175958359 ESCA A T Synonymous p.L671L c.2013T>A 1 175956199 LUAD A T Synonymous p.V519V c.1557T>A 1 176012377 BRCA C A Missense p.G493C c.1477G>T 1 176012899 LUSC C A Missense p.W225L c.674G>T 1 176132093 RCCC C G Missense p.A702P c.2104G>C 1 175956108 LUSC C G Missense p.K483N c.1449G>C 1 176012927 HNSC C G Missense p.V731L c.2191G>C 1 175914294 STAD C G Missense p.W625S c.1874G>C 1 175957522 CM C T Missense p.D690N c.2068G>A 1 175956144 CM C T Missense p.G658E c.1973G>A 1 175956239 CM C T Missense p.R356K c.1067G>A 1 176054986 CM C T Missense p.S154N c.461G>A 1 176153775 LUSC C T Missense p.S213N c.638G>A 1 176132955 LUSC C T Missense p.S685N c.2054G>A 1 175956158 LUAD C T Synonymous p.T352T c.1056G>A 1 176054997 UCEC C T Synonymous p.V189V c.567G>A 1 176133026 ESCA G A 3-UTRSNV . c.2193+156C>T 1 175914136 CM G A IntronicSNV . c.1730-5680C>T 1 175964295 CLL G A IntronicSNV . c.1848-6C>T 1 175957554 CM G A Missense p.A414V c.1241C>T 1 176050324 CM G A Missense p.H639Y c.1915C>T 1 175957481 LUAD G A Missense p.P318S c.952C>T 1 176104162 LUAD G A Missense p.R586C c.1756C>T 1 175958589 CM G A Missense p.T724I c.2171C>T 1 175916338 LUSC G A Nonsense p.Q230* c.688C>T 1 176132079 LGG G A Nonsense p.R384* c.1150C>T 1 176050415 NSCLC G A Synonymous p.I473I c.1419C>T 1 176015319 CM G A Synonymous p.V424V c.1272C>T 1 176050293 ESCA G C Missense p.L687V c.2059C>G 1 175956153 ESCA G C Missense p.Q162E c.484C>G 1 176145127 HNSC G C Synonymous p.V580V c.1740C>G 1 175958605 LUSC G T Synonymous p.L192L c.576C>A 1 176133017 LUSC T A IntronicSNV . c.2134-5910A>T 1 175922285 CLL T A Missense p.N168I c.503A>T 1 176145108 CM T A Missense p.S103C c.307A>T 1 176175808 SCLC T A Missense p.S489C c.1465A>T 1 176012911 SCLC T A Synonymous p.T696T c.2088A>T 1 175956124 LUAD T C Missense p.D231G c.692A>G 1 176132075 LGG T C Missense p.S383G c.1147A>G 1 176050418 BLCA T C Missense p.S426G c.1276A>G 1 176050289 NSCLC T C Missense p.T400A c.1198A>G 1 176050367 STAD T C Missense p.Y349C c.1046A>G 1 176055007 RCCC T C Synonymous p.E729E c.2187A>G 1 175914298 CM T C Synonymous p.Q278Q c.834A>G 1 176105681 LUAD T C Synonymous p.T374T c.1122A>G 1 176054931 THCA T G Synonymous p.R515R c.1543A>C 1 176012391 BRCA