Mutation - TCGA Type Chromosome Start Position End Position Strand Variant Classification Variant Type Reference Allele Tumor_seq Allele 1 Tumor_seq Allele 2 Tumor Sample Barcode Matched Norm Sample Barcode Genome Change cDNA Change Codon Change Protein Change ACC 4 148968042 148968042 + Splice_Site SNP G G T TCGA-OR-A5KB-01A-11D-A30A-10 TCGA-OR-A5KB-11A-11D-A30A-10 g.chr4:148968042G>T c.e20-1 BLCA 4 148743974 148743974 + Splice_Site SNP G G A TCGA-DK-A1AF-01A-11D-A13W-08 TCGA-DK-A1AF-10A-01D-A13W-08 g.chr4:148743974G>A c.e2+1 BLCA 4 148787895 148787895 + Missense_Mutation SNP C C G TCGA-E5-A4U1-01A-11D-A31L-08 TCGA-E5-A4U1-10B-01D-A31J-08 g.chr4:148787895C>G c.630C>G c.(628-630)ttC>ttG p.F210L BLCA 4 148886219 148886219 + Missense_Mutation SNP G G C TCGA-XF-A9SM-01A-11D-A42E-08 TCGA-XF-A9SM-10A-01D-A42H-08 g.chr4:148886219G>C c.1495G>C c.(1495-1497)Gta>Cta p.V499L BLCA 4 148993173 148993173 + Nonsense_Mutation SNP G G T TCGA-E7-A97P-01A-11D-A38G-08 TCGA-E7-A97P-10A-01D-A38J-08 g.chr4:148993173G>T c.2302G>T c.(2302-2304)Gaa>Taa p.E768* BRCA 4 148787878 148787878 + Nonsense_Mutation SNP C C T TCGA-C8-A3M7-01A-12D-A21Q-09 TCGA-C8-A3M7-10A-01D-A21Q-09 g.chr4:148787878C>T c.613C>T c.(613-615)Cag>Tag p.Q205* BRCA 4 148796228 148796228 + Missense_Mutation SNP C C G TCGA-D8-A1JA-01A-11D-A13L-09 TCGA-D8-A1JA-10A-01W-A14R-09 g.chr4:148796228C>G c.759C>G c.(757-759)atC>atG p.I253M BRCA 4 148985600 148985600 + Silent SNP G G A TCGA-A2-A0D1-01A-11W-A050-09 TCGA-A2-A0D1-10A-01W-A055-09 g.chr4:148985600G>A c.2214G>A c.(2212-2214)ccG>ccA p.P738P CESC 4 148653506 148653506 + Missense_Mutation SNP C C G TCGA-Q1-A73O-01A-11D-A32I-09 TCGA-Q1-A73O-10B-01D-A32I-09 g.chr4:148653506C>G c.54C>G c.(52-54)ttC>ttG p.F18L COAD 4 148768342 148768342 + Missense_Mutation SNP A A C TCGA-AA-A010-01A-01W-A00E-09 TCGA-AA-A010-10A-01W-A00E-09 g.chr4:148768342A>C c.353A>C c.(352-354)aAa>aCa p.K118T COAD 4 148796176 148796176 + Missense_Mutation SNP G G A TCGA-AA-3984-01A-02W-0995-10 TCGA-AA-3984-10A-01W-0999-10 g.chr4:148796176G>A c.707G>A c.(706-708)cGg>cAg p.R236Q COAD 4 148800393 148800393 + Silent SNP G G A TCGA-A6-6649-01A-11D-1771-10 TCGA-A6-6649-10A-01D-1771-10 g.chr4:148800393G>A c.843G>A c.(841-843)ccG>ccA p.P281P COAD 4 148800446 148800446 + Missense_Mutation SNP A A G TCGA-A6-5660-01A-01D-1650-10 TCGA-A6-5660-10A-01D-1650-10 g.chr4:148800446A>G c.896A>G c.(895-897)aAg>aGg p.K299R COAD 4 148800446 148800446 + Missense_Mutation SNP A A G TCGA-A6-6653-01A-11D-1771-10 TCGA-A6-6653-10A-01D-1771-10 g.chr4:148800446A>G c.896A>G c.(895-897)aAg>aGg p.K299R COAD 4 148876466 148876466 + Splice_Site SNP G G T TCGA-G4-6628-01A-11D-1835-10 TCGA-G4-6628-10A-01D-1835-10 g.chr4:148876466G>T c.e16-1 COAD 4 148887925 148887925 + Missense_Mutation SNP G G A TCGA-G4-6588-01A-11D-1771-10 TCGA-G4-6588-10A-01D-1771-10 g.chr4:148887925G>A c.1651G>A c.(1651-1653)Gct>Act p.A551T COAD 4 148944471 148944471 + Frame_Shift_Del DEL C C - TCGA-A6-6653-01A-11D-1771-10 TCGA-A6-6653-10A-01D-1771-10 g.chr4:148944471delC c.1774delC c.(1774-1776)cccfs p.P593fs COAD 4 148944513 148944513 + Missense_Mutation SNP A A G TCGA-AZ-6600-01A-11D-1771-10 TCGA-AZ-6600-11A-01D-1771-10 g.chr4:148944513A>G c.1816A>G c.(1816-1818)Aga>Gga p.R606G COAD 4 148944515 148944515 + Silent SNP A A G TCGA-DM-A1D6-01A-21D-A152-10 TCGA-DM-A1D6-10A-01D-A152-10 g.chr4:148944515A>G c.1818A>G c.(1816-1818)agA>agG p.R606R COADREAD 4 148768342 148768342 + Missense_Mutation SNP A A C TCGA-AA-A010-01A-01W-A00E-09 TCGA-AA-A010-10A-01W-A00E-09 g.chr4:148768342A>C c.353A>C c.(352-354)aAa>aCa p.K118T COADREAD 4 148787883 148787883 + Silent SNP G G A TCGA-AG-A002-01A-01W-A00K-09 TCGA-AG-A002-10A-01W-A00K-09 g.chr4:148787883G>A c.618G>A c.(616-618)ggG>ggA p.G206G COADREAD 4 148796176 148796176 + Missense_Mutation SNP G G A TCGA-AA-3984-01A-02W-0995-10 TCGA-AA-3984-10A-01W-0999-10 g.chr4:148796176G>A c.707G>A c.(706-708)cGg>cAg p.R236Q COADREAD 4 148796273 148796273 + Silent SNP C C T TCGA-AG-A002-01A-01W-A00K-09 TCGA-AG-A002-10A-01W-A00K-09 g.chr4:148796273C>T c.804C>T c.(802-804)gcC>gcT p.A268A COADREAD 4 148800393 148800393 + Silent SNP G G A TCGA-A6-6649-01A-11D-1771-10 TCGA-A6-6649-10A-01D-1771-10 g.chr4:148800393G>A c.843G>A c.(841-843)ccG>ccA p.P281P COADREAD 4 148800446 148800446 + Missense_Mutation SNP A A G TCGA-A6-5660-01A-01D-1650-10 TCGA-A6-5660-10A-01D-1650-10 g.chr4:148800446A>G c.896A>G c.(895-897)aAg>aGg p.K299R COADREAD 4 148800446 148800446 + Missense_Mutation SNP A A G TCGA-A6-6653-01A-11D-1771-10 TCGA-A6-6653-10A-01D-1771-10 g.chr4:148800446A>G c.896A>G c.(895-897)aAg>aGg p.K299R COADREAD 4 148800446 148800446 + Missense_Mutation SNP A A G TCGA-DT-5265-01A-21D-1826-10 TCGA-DT-5265-10A-01D-1826-10 g.chr4:148800446A>G c.896A>G c.(895-897)aAg>aGg p.K299R COADREAD 4 148800446 148800446 + Missense_Mutation SNP A A G TCGA-DY-A1DD-01A-21D-A152-10 TCGA-DY-A1DD-10A-01D-A152-10 g.chr4:148800446A>G c.896A>G c.(895-897)aAg>aGg p.K299R COADREAD 4 148876466 148876466 + Splice_Site SNP G G T TCGA-G4-6628-01A-11D-1835-10 TCGA-G4-6628-10A-01D-1835-10 g.chr4:148876466G>T c.e16-1 COADREAD 4 148887925 148887925 + Missense_Mutation SNP G G A TCGA-G4-6588-01A-11D-1771-10 TCGA-G4-6588-10A-01D-1771-10 g.chr4:148887925G>A c.1651G>A c.(1651-1653)Gct>Act p.A551T COADREAD 4 148944471 148944471 + Frame_Shift_Del DEL C C - TCGA-A6-6653-01A-11D-1771-10 TCGA-A6-6653-10A-01D-1771-10 g.chr4:148944471delC c.1774delC c.(1774-1776)cccfs p.P593fs COADREAD 4 148944513 148944513 + Missense_Mutation SNP A A G TCGA-AZ-6600-01A-11D-1771-10 TCGA-AZ-6600-11A-01D-1771-10 g.chr4:148944513A>G c.1816A>G c.(1816-1818)Aga>Gga p.R606G COADREAD 4 148944515 148944515 + Silent SNP A A G TCGA-AF-2687-01A-02D-1733-10 TCGA-AF-2687-10A-01D-1733-10 g.chr4:148944515A>G c.1818A>G c.(1816-1818)agA>agG p.R606R COADREAD 4 148944515 148944515 + Silent SNP A A G TCGA-DM-A1D6-01A-21D-A152-10 TCGA-DM-A1D6-10A-01D-A152-10 g.chr4:148944515A>G c.1818A>G c.(1816-1818)agA>agG p.R606R ESCA 4 148786095 148786095 + Silent SNP G G A TCGA-IG-A8O2-01A-11D-A36J-09 TCGA-IG-A8O2-10A-01D-A36M-09 g.chr4:148786095G>A c.585G>A c.(583-585)gaG>gaA p.E195E ESCA 4 148796191 148796191 + Missense_Mutation SNP G G T TCGA-L5-A4OH-01A-11D-A27G-09 TCGA-L5-A4OH-11A-11D-A27G-09 g.chr4:148796191G>T c.722G>T c.(721-723)gGa>gTa p.G241V ESCA 4 148968114 148968114 + Missense_Mutation SNP G G T TCGA-JY-A6FH-01A-11D-A33E-09 TCGA-JY-A6FH-10A-01D-A33H-09 g.chr4:148968114G>T c.1939G>T c.(1939-1941)Gtg>Ttg p.V647L GBM 4 148944421 148944421 + Missense_Mutation SNP G G A TCGA-06-6695-01A-11D-1845-08 TCGA-06-6695-10A-01D-1845-08 g.chr4:148944421G>A c.1724G>A c.(1723-1725)cGg>cAg p.R575Q GBMLGG 4 148886181 148886181 + Missense_Mutation SNP G G A TCGA-DU-6392-01A-11D-1705-08 TCGA-DU-6392-10A-01D-1705-08 g.chr4:148886181G>A c.1457G>A c.(1456-1458)gGc>gAc p.G486D GBMLGG 4 148944421 148944421 + Missense_Mutation SNP G G A TCGA-06-6695-01A-11D-1845-08 TCGA-06-6695-10A-01D-1845-08 g.chr4:148944421G>A c.1724G>A c.(1723-1725)cGg>cAg p.R575Q GBMLGG 4 148985641 148985641 + Missense_Mutation SNP G G A TCGA-DU-A76R-01A-11D-A32B-08 TCGA-DU-A76R-10A-01D-A329-08 g.chr4:148985641G>A c.2255G>A c.(2254-2256)gGa>gAa p.G752E HNSC 4 148787899 148787899 + Missense_Mutation SNP C C T TCGA-CV-A6K2-01A-11D-A31L-08 TCGA-CV-A6K2-10A-01D-A31J-08 g.chr4:148787899C>T c.634C>T c.(634-636)Cat>Tat p.H212Y HNSC 4 148800393 148800393 + Silent SNP G G A TCGA-CR-7389-01A-11D-2012-08 TCGA-CR-7389-10A-01D-2013-08 g.chr4:148800393G>A c.843G>A c.(841-843)ccG>ccA p.P281P HNSC 4 148867785 148867785 + Missense_Mutation SNP G G A TCGA-CR-6472-01A-11D-1870-08 TCGA-CR-6472-10A-01D-1870-08 g.chr4:148867785G>A c.1321G>A c.(1321-1323)Gag>Aag p.E441K HNSC 4 148886186 148886186 + Missense_Mutation SNP C C G TCGA-D6-8568-01A-11D-2394-08 TCGA-D6-8568-10A-01D-2394-08 g.chr4:148886186C>G c.1462C>G c.(1462-1464)Cca>Gca p.P488A HNSC 4 148944413 148944413 + Splice_Site SNP G G C TCGA-CN-4723-01A-01D-1434-08 TCGA-CN-4723-10A-01D-1434-08 g.chr4:148944413G>C c.e19-1 HNSC 4 148944475 148944475 + Missense_Mutation SNP C C G TCGA-CV-6954-01A-11D-1912-08 TCGA-CV-6954-10A-01D-1912-08 g.chr4:148944475C>G c.1778C>G c.(1777-1779)cCa>cGa p.P593R HNSC 4 148984409 148984409 + Missense_Mutation SNP C C T TCGA-CV-A468-01A-11D-A25Y-08 TCGA-CV-A468-10A-01D-A25Y-08 g.chr4:148984409C>T c.2138C>T c.(2137-2139)cCc>cTc p.P713L KIPAN 4 148800473 148800473 + Missense_Mutation SNP G G C TCGA-2Z-A9J3-01A-12D-A382-10 TCGA-2Z-A9J3-10A-01D-A385-10 g.chr4:148800473G>C c.923G>C c.(922-924)aGa>aCa p.R308T KIPAN 4 148861016 148861016 + Missense_Mutation SNP T T A TCGA-BP-5006-01A-01D-1462-08 TCGA-BP-5006-11A-01D-1462-08 g.chr4:148861016T>A c.1269T>A c.(1267-1269)agT>agA p.S423R KIPAN 4 148861022 148861022 + Missense_Mutation SNP G G C TCGA-BP-4801-01A-02D-1421-08 TCGA-BP-4801-11A-01D-1421-08 g.chr4:148861022G>C c.1275G>C c.(1273-1275)aaG>aaC p.K425N KIRC 4 148861016 148861016 + Missense_Mutation SNP T T A TCGA-BP-5006-01A-01D-1462-08 TCGA-BP-5006-11A-01D-1462-08 g.chr4:148861016T>A c.1269T>A c.(1267-1269)agT>agA p.S423R KIRC 4 148861022 148861022 + Missense_Mutation SNP G G C TCGA-BP-4801-01A-02D-1421-08 TCGA-BP-4801-11A-01D-1421-08 g.chr4:148861022G>C c.1275G>C c.(1273-1275)aaG>aaC p.K425N KIRP 4 148800473 148800473 + Missense_Mutation SNP G G C TCGA-2Z-A9J3-01A-12D-A382-10 TCGA-2Z-A9J3-10A-01D-A385-10 g.chr4:148800473G>C c.923G>C c.(922-924)aGa>aCa p.R308T LGG 4 148886181 148886181 + Missense_Mutation SNP G G A TCGA-DU-6392-01A-11D-1705-08 TCGA-DU-6392-10A-01D-1705-08 g.chr4:148886181G>A c.1457G>A c.(1456-1458)gGc>gAc p.G486D LGG 4 148985641 148985641 + Missense_Mutation SNP G G A TCGA-DU-A76R-01A-11D-A32B-08 TCGA-DU-A76R-10A-01D-A329-08 g.chr4:148985641G>A c.2255G>A c.(2254-2256)gGa>gAa p.G752E LIHC 4 148743969 148743969 + Missense_Mutation SNP C C G TCGA-DD-AAC9-01A-11D-A40R-10 TCGA-DD-AAC9-10A-01D-A40U-10 g.chr4:148743969C>G c.246C>G c.(244-246)tgC>tgG p.C82W LIHC 4 148744064 148744064 + Frame_Shift_Del DEL T T - TCGA-DD-A1EG-01A-11D-A20W-10 TCGA-DD-A1EG-10A-01D-A20W-10 g.chr4:148744064delT c.268delT c.(268-270)tttfs p.F90fs LIHC 4 148778702 148778702 + Splice_Site SNP A A G TCGA-DD-A39X-01A-11D-A20W-10 TCGA-DD-A39X-11A-11D-A20W-10 g.chr4:148778702A>G c.e5-1 LIHC 4 148787952 148787952 + Silent SNP G G A TCGA-GJ-A9DB-01A-11D-A36X-10 TCGA-GJ-A9DB-10A-01D-A370-10 g.chr4:148787952G>A c.687G>A c.(685-687)caG>caA p.Q229Q LIHC 4 148796299 148796299 + Missense_Mutation SNP A A G TCGA-LG-A9QD-01A-11D-A382-10 TCGA-LG-A9QD-10A-01D-A385-10 g.chr4:148796299A>G c.830A>G c.(829-831)aAa>aGa p.K277R LIHC 4 148802995 148802995 + Nonsense_Mutation SNP G G T TCGA-DD-A119-01A-11D-A12Z-10 TCGA-DD-A119-10A-01D-A12Z-10 g.chr4:148802995G>T c.946G>T c.(946-948)Gga>Tga p.G316* LIHC 4 148886196 148886196 + Missense_Mutation SNP G G A TCGA-BC-A110-01A-11D-A12Z-10 TCGA-BC-A110-11A-11D-A12Z-10 g.chr4:148886196G>A c.1472G>A c.(1471-1473)cGt>cAt p.R491H LIHC 4 148886196 148886196 + Missense_Mutation SNP G G A TCGA-DD-A1EE-01A-11D-A12Z-10 TCGA-DD-A1EE-10A-01D-A12Z-10 g.chr4:148886196G>A c.1472G>A c.(1471-1473)cGt>cAt p.R491H LIHC 4 148984403 148984403 + Missense_Mutation SNP C C A TCGA-DD-A119-01A-11D-A12Z-10 TCGA-DD-A119-10A-01D-A12Z-10 g.chr4:148984403C>A c.2132C>A c.(2131-2133)cCt>cAt p.P711H LIHC 4 148984418 148984418 + Missense_Mutation SNP C C T TCGA-RC-A6M3-01A-11D-A32G-10 TCGA-RC-A6M3-10A-01D-A32G-10 g.chr4:148984418C>T c.2147C>T c.(2146-2148)cCt>cTt p.P716L LUAD 4 148653597 148653597 + Missense_Mutation SNP G G T TCGA-O1-A52J-01A-11D-A25L-08 TCGA-O1-A52J-10A-01D-A25L-08 g.chr4:148653597G>T c.145G>T c.(145-147)Gcg>Tcg p.A49S LUAD 4 148744059 148744059 + Missense_Mutation SNP G G A TCGA-55-7227-01A-11D-2036-08 TCGA-55-7227-10A-01D-2036-08 g.chr4:148744059G>A c.263G>A c.(262-264)cGt>cAt p.R88H LUAD 4 148744109 148744109 + Splice_Site SNP G G T TCGA-49-6767-01A-11D-1855-08 TCGA-49-6767-11A-01D-1855-08 g.chr4:148744109G>T c.e3+1 LUAD 4 148796218 148796218 + Missense_Mutation SNP T T C TCGA-50-6595-01A-12D-1855-08 TCGA-50-6595-11A-01D-1855-08 g.chr4:148796218T>C c.749T>C c.(748-750)aTg>aCg p.M250T LUAD 4 148796291 148796291 + Silent SNP C C T TCGA-64-5781-01A-01D-1625-08 TCGA-64-5781-10A-01D-1625-08 g.chr4:148796291C>T c.822C>T c.(820-822)gtC>gtT p.V274V LUAD 4 148827870 148827870 + Splice_Site SNP T T A TCGA-86-7711-01A-11D-2063-08 TCGA-86-7711-10A-01D-2063-08 g.chr4:148827870T>A c.1116T>A c.(1114-1116)gcT>gcA p.A372A LUAD 4 148887931 148887931 + Missense_Mutation SNP C C T TCGA-55-7910-01A-11D-2167-08 TCGA-55-7910-11A-01D-2167-08 g.chr4:148887931C>T c.1657C>T c.(1657-1659)Ctc>Ttc p.L553F LUAD 4 148944525 148944525 + Frame_Shift_Del DEL C C - TCGA-MP-A4TF-01A-11D-A25L-08 TCGA-MP-A4TF-10A-01D-A25L-08 g.chr4:148944525delC c.1828delC c.(1828-1830)cccfs p.P610fs LUAD 4 148968053 148968053 + Silent SNP T T C TCGA-55-8085-01A-11D-2238-08 TCGA-55-8085-10A-01D-2238-08 g.chr4:148968053T>C c.1878T>C c.(1876-1878)ccT>ccC p.P626P LUAD 4 148984305 148984305 + Silent SNP C C A TCGA-78-7145-01A-11D-2036-08 TCGA-78-7145-10A-01D-2036-08 g.chr4:148984305C>A c.2034C>A c.(2032-2034)ggC>ggA p.G678G LUSC 4 148653489 148653489 + Missense_Mutation SNP C C A TCGA-46-6025-01A-11D-1817-08 TCGA-46-6025-10A-01D-1817-08 g.chr4:148653489C>A c.37C>A c.(37-39)Ctc>Atc p.L13I LUSC 4 148743893 148743893 + Missense_Mutation SNP A A T TCGA-70-6722-01A-11D-1817-08 TCGA-70-6722-10A-01D-1817-08 g.chr4:148743893A>T c.170A>T c.(169-171)cAg>cTg p.Q57L LUSC 4 148876465 148876465 + Splice_Site SNP A A G TCGA-43-6647-01A-11D-1817-08 TCGA-43-6647-11A-01D-1817-08 g.chr4:148876465A>G c.e16-1 LUSC 4 148968149 148968149 + Missense_Mutation SNP C C G TCGA-46-6025-01A-11D-1817-08 TCGA-46-6025-10A-01D-1817-08 g.chr4:148968149C>G c.1974C>G c.(1972-1974)gaC>gaG p.D658E PAAD 4 148786101 148786101 + Silent SNP G G A TCGA-IB-7651-01A-11D-2154-08 TCGA-IB-7651-10A-01D-2154-08 g.chr4:148786101G>A c.591G>A c.(589-591)gtG>gtA p.V197V PAAD 4 148802993 148802993 + Missense_Mutation SNP A A G TCGA-3A-A9I5-01A-11D-A38G-08 TCGA-3A-A9I5-10A-01D-A38J-08 g.chr4:148802993A>G c.944A>G c.(943-945)gAc>gGc p.D315G PAAD 4 148944528 148944528 + Missense_Mutation SNP G G A TCGA-IB-A5SQ-01A-11D-A32N-08 TCGA-IB-A5SQ-10A-01D-A32N-08 g.chr4:148944528G>A c.1831G>A c.(1831-1833)Gtg>Atg p.V611M PAAD 4 148984411 148984411 + Frame_Shift_Del DEL T T - TCGA-2J-AABT-01A-11D-A40W-08 TCGA-2J-AABT-10A-01D-A40W-08 g.chr4:148984411delT c.2140delT c.(2140-2142)tttfs p.F714fs PCPG 4 148653479 148653479 + Silent SNP C C T TCGA-SP-A6QG-01A-12D-A35I-08 TCGA-SP-A6QG-10A-01D-A35G-08 g.chr4:148653479C>T c.27C>T c.(25-27)agC>agT p.S9S PCPG 4 148787930 148787930 + Missense_Mutation SNP A A G TCGA-QT-A5XP-01A-11D-A35D-08 TCGA-QT-A5XP-10A-01D-A35B-08 g.chr4:148787930A>G c.665A>G c.(664-666)aAt>aGt p.N222S PRAD 4 148786095 148786095 + Missense_Mutation SNP G G T TCGA-KK-A5A1-01A-11D-A29Q-08 TCGA-KK-A5A1-11A-12D-A29Q-08 g.chr4:148786095G>T c.585G>T c.(583-585)gaG>gaT p.E195D PRAD 4 148876466 148876466 + Splice_Site SNP G G T TCGA-XK-AAIW-01A-11D-A41K-08 TCGA-XK-AAIW-10A-01D-A41N-08 g.chr4:148876466G>T c.e16-1 PRAD 4 148886179 148886179 + Silent SNP C C T TCGA-J9-A52C-01A-11D-A26M-08 TCGA-J9-A52C-10A-01D-A26K-08 g.chr4:148886179C>T c.1455C>T c.(1453-1455)agC>agT p.S485S READ 4 148787883 148787883 + Silent SNP G G A TCGA-AG-A002-01A-01W-A00K-09 TCGA-AG-A002-10A-01W-A00K-09 g.chr4:148787883G>A c.618G>A c.(616-618)ggG>ggA p.G206G READ 4 148796273 148796273 + Silent SNP C C T TCGA-AG-A002-01A-01W-A00K-09 TCGA-AG-A002-10A-01W-A00K-09 g.chr4:148796273C>T c.804C>T c.(802-804)gcC>gcT p.A268A READ 4 148800446 148800446 + Missense_Mutation SNP A A G TCGA-DT-5265-01A-21D-1826-10 TCGA-DT-5265-10A-01D-1826-10 g.chr4:148800446A>G c.896A>G c.(895-897)aAg>aGg p.K299R READ 4 148800446 148800446 + Missense_Mutation SNP A A G TCGA-DY-A1DD-01A-21D-A152-10 TCGA-DY-A1DD-10A-01D-A152-10 g.chr4:148800446A>G c.896A>G c.(895-897)aAg>aGg p.K299R READ 4 148944515 148944515 + Silent SNP A A G TCGA-AF-2687-01A-02D-1733-10 TCGA-AF-2687-10A-01D-1733-10 g.chr4:148944515A>G c.1818A>G c.(1816-1818)agA>agG p.R606R SARC 4 148876500 148876500 + Missense_Mutation SNP A A T TCGA-DX-A7EL-01A-12D-A36J-09 TCGA-DX-A7EL-10A-01D-A36M-09 g.chr4:148876500A>T c.1425A>T c.(1423-1425)ttA>ttT p.L475F SKCM 4 148743890 148743890 + Missense_Mutation SNP C C T TCGA-EE-A29E-06A-11D-A197-08 TCGA-EE-A29E-10A-01D-A199-08 g.chr4:148743890C>T c.167C>T c.(166-168)gCc>gTc p.A56V SKCM 4 148743939 148743939 + Silent SNP C C T TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 g.chr4:148743939C>T c.216C>T c.(214-216)atC>atT p.I72I SKCM 4 148744081 148744081 + Silent SNP G G A TCGA-EE-A3JD-06A-11D-A20D-08 TCGA-EE-A3JD-10A-01D-A20D-08 g.chr4:148744081G>A c.285G>A c.(283-285)aaG>aaA p.K95K SKCM 4 148800397 148800397 + Missense_Mutation SNP G G A TCGA-GN-A26A-06A-11D-A19A-08 TCGA-GN-A26A-10A-01D-A19A-08 g.chr4:148800397G>A c.847G>A c.(847-849)Ggt>Agt p.G283S SKCM 4 148800398 148800398 + Missense_Mutation SNP G G A TCGA-GN-A26A-06A-11D-A19A-08 TCGA-GN-A26A-10A-01D-A19A-08 g.chr4:148800398G>A c.848G>A c.(847-849)gGt>gAt p.G283D SKCM 4 148827821 148827821 + Missense_Mutation SNP C C T TCGA-D3-A3ML-06A-11D-A21A-08 TCGA-D3-A3ML-10A-01D-A21A-08 g.chr4:148827821C>T c.1067C>T c.(1066-1068)tCc>tTc p.S356F SKCM 4 148827861 148827861 + Frame_Shift_Del DEL A A - TCGA-D3-A2JL-06A-11D-A196-08 TCGA-D3-A2JL-10A-01D-A198-08 g.chr4:148827861delA c.1107delA c.(1105-1107)ggafs p.G369fs SKCM 4 148867830 148867830 + Missense_Mutation SNP A A C TCGA-EE-A2A2-06A-11D-A196-08 TCGA-EE-A2A2-10A-01D-A198-08 g.chr4:148867830A>C c.1366A>C c.(1366-1368)Aca>Cca p.T456P SKCM 4 148887936 148887936 + Missense_Mutation SNP G G A TCGA-EE-A182-06A-11D-A196-08 TCGA-EE-A182-10A-01D-A198-08 g.chr4:148887936G>A c.1662G>A c.(1660-1662)atG>atA p.M554I SKCM 4 148887969 148887969 + Silent SNP C C T TCGA-EE-A29M-06A-11D-A196-08 TCGA-EE-A29M-10A-01D-A198-08 g.chr4:148887969C>T c.1695C>T c.(1693-1695)atC>atT p.I565I SKCM 4 148944420 148944420 + Missense_Mutation SNP C C T TCGA-EE-A3AH-06A-11D-A196-08 TCGA-EE-A3AH-10A-01D-A198-08 g.chr4:148944420C>T c.1723C>T c.(1723-1725)Cgg>Tgg p.R575W SKCM 4 148944547 148944547 + Missense_Mutation SNP G G A TCGA-D3-A3CC-06A-11D-A19A-08 TCGA-D3-A3CC-10A-01D-A19A-08 g.chr4:148944547G>A c.1850G>A c.(1849-1851)tGt>tAt p.C617Y SKCM 4 148968090 148968090 + Missense_Mutation SNP G G A TCGA-EE-A2MI-06A-11D-A197-08 TCGA-EE-A2MI-10A-01D-A199-08 g.chr4:148968090G>A c.1915G>A c.(1915-1917)Gac>Aac p.D639N SKCM 4 148968112 148968112 + Missense_Mutation SNP C C T TCGA-EE-A2GP-06A-11D-A197-08 TCGA-EE-A2GP-10A-01D-A199-08 g.chr4:148968112C>T c.1937C>T c.(1936-1938)cCc>cTc p.P646L SKCM 4 148968136 148968136 + Missense_Mutation SNP C C T TCGA-FW-A3R5-06A-11D-A23B-08 TCGA-FW-A3R5-10A-01D-A23B-08 g.chr4:148968136C>T c.1961C>T c.(1960-1962)cCt>cTt p.P654L SKCM 4 148985583 148985583 + Missense_Mutation SNP G G C TCGA-D3-A2JF-06A-11D-A196-08 TCGA-D3-A2JF-10A-01D-A198-08 g.chr4:148985583G>C c.2197G>C c.(2197-2199)Gct>Cct p.A733P SKCM 4 148985629 148985629 + Missense_Mutation SNP C C T TCGA-EE-A29B-06A-11D-A197-08 TCGA-EE-A29B-10A-01D-A199-08 g.chr4:148985629C>T c.2243C>T c.(2242-2244)tCt>tTt p.S748F

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 4 148785995 148785995 single base substitution A G exon_variant BLCA-CN 4 148785995 148785995 single base substitution A G splice_acceptor_variant BLCA-US 4 148743974 148743974 single base substitution G A splice_donor_variant BOCA-FR 4 148722700 148722700 single base substitution A G intron_variant BOCA-FR 4 148752350 148752350 single base substitution G A intron_variant BOCA-FR 4 148791681 148791681 single base substitution A G intron_variant BOCA-FR 4 148837374 148837374 single base substitution T C intron_variant BOCA-FR 4 148943637 148943637 single base substitution G C intron_variant BOCA-FR 4 148943637 148943637 single base substitution G C upstream_gene_variant BOCA-FR 4 148979656 148979656 single base substitution A T intron_variant BRCA-EU 4 148649727 148649727 single base substitution C A upstream_gene_variant BRCA-EU 4 148650121 148650121 single base substitution C G upstream_gene_variant BRCA-EU 4 148650856 148650856 single base substitution T A upstream_gene_variant BRCA-EU 4 148653813 148653813 single base substitution C G intron_variant BRCA-EU 4 148654309 148654309 single base substitution C G intron_variant BRCA-EU 4 148656314 148656314 single base substitution C T intron_variant BRCA-EU 4 148656879 148656879 single base substitution C G intron_variant BRCA-EU 4 148657846 148657846 single base substitution C G intron_variant BRCA-EU 4 148658767 148658767 single base substitution C G intron_variant BRCA-EU 4 148660180 148660180 deletion of <=200bp A - intron_variant BRCA-EU 4 148660619 148660619 single base substitution C G intron_variant BRCA-EU 4 148661708 148661708 single base substitution C T intron_variant BRCA-EU 4 148662320 148662320 deletion of <=200bp T - intron_variant BRCA-EU 4 148662706 148662706 single base substitution G T intron_variant BRCA-EU 4 148663065 148663065 single base substitution G C intron_variant BRCA-EU 4 148663867 148663867 single base substitution C A intron_variant BRCA-EU 4 148664191 148664191 insertion of <=200bp - A intron_variant BRCA-EU 4 148665089 148665089 single base substitution T G intron_variant BRCA-EU 4 148665389 148665389 single base substitution C T intron_variant BRCA-EU 4 148665542 148665542 single base substitution G C intron_variant BRCA-EU 4 148665752 148665752 single base substitution G C intron_variant BRCA-EU 4 148666483 148666483 single base substitution C G intron_variant BRCA-EU 4 148666665 148666665 single base substitution C T intron_variant BRCA-EU 4 148666809 148666809 single base substitution A T intron_variant BRCA-EU 4 148666824 148666824 single base substitution A T intron_variant BRCA-EU 4 148667321 148667321 single base substitution C G intron_variant BRCA-EU 4 148667893 148667893 single base substitution G A intron_variant BRCA-EU 4 148669144 148669144 single base substitution G A intron_variant BRCA-EU 4 148670370 148670370 single base substitution G C intron_variant BRCA-EU 4 148670669 148670669 single base substitution C A intron_variant BRCA-EU 4 148671454 148671454 single base substitution G C intron_variant BRCA-EU 4 148671765 148671765 single base substitution T G intron_variant BRCA-EU 4 148675263 148675263 single base substitution C G intron_variant BRCA-EU 4 148677111 148677111 single base substitution T A intron_variant BRCA-EU 4 148679085 148679085 single base substitution G A intron_variant BRCA-EU 4 148681755 148681755 single base substitution A C intron_variant BRCA-EU 4 148684053 148684053 single base substitution C T intron_variant BRCA-EU 4 148684382 148684382 single base substitution T C intron_variant BRCA-EU 4 148686236 148686236 single base substitution T C intron_variant BRCA-EU 4 148686286 148686286 deletion of <=200bp G - intron_variant BRCA-EU 4 148686520 148686520 single base substitution T C intron_variant BRCA-EU 4 148686521 148686521 single base substitution G C intron_variant BRCA-EU 4 148687067 148687067 single base substitution C G intron_variant BRCA-EU 4 148689098 148689098 single base substitution A C intron_variant BRCA-EU 4 148690276 148690276 single base substitution G T intron_variant BRCA-EU 4 148691002 148691002 single base substitution G A intron_variant BRCA-EU 4 148691946 148691946 single base substitution C T intron_variant BRCA-EU 4 148693100 148693100 single base substitution G A intron_variant BRCA-EU 4 148693177 148693177 single base substitution G A intron_variant BRCA-EU 4 148693957 148693957 single base substitution C G intron_variant BRCA-EU 4 148693965 148693965 single base substitution A G intron_variant BRCA-EU 4 148694672 148694672 single base substitution C G intron_variant BRCA-EU 4 148697070 148697070 single base substitution C G intron_variant BRCA-EU 4 148697164 148697164 single base substitution C T intron_variant BRCA-EU 4 148697191 148697191 single base substitution G A intron_variant BRCA-EU 4 148698483 148698483 single base substitution C T intron_variant BRCA-EU 4 148698640 148698640 single base substitution A T intron_variant BRCA-EU 4 148699646 148699646 single base substitution G A intron_variant BRCA-EU 4 148701845 148701845 single base substitution G A intron_variant BRCA-EU 4 148703282 148703282 single base substitution A G intron_variant BRCA-EU 4 148704752 148704752 single base substitution G A intron_variant BRCA-EU 4 148704785 148704785 single base substitution G A intron_variant BRCA-EU 4 148706639 148706639 single base substitution T C intron_variant BRCA-EU 4 148707351 148707351 single base substitution G A intron_variant BRCA-EU 4 148707603 148707603 single base substitution C G intron_variant BRCA-EU 4 148708708 148708708 single base substitution G C intron_variant BRCA-EU 4 148708811 148708811 single base substitution G A intron_variant BRCA-EU 4 148709401 148709401 single base substitution G A intron_variant BRCA-EU 4 148711785 148711785 single base substitution G A intron_variant BRCA-EU 4 148712447 148712447 single base substitution G A intron_variant BRCA-EU 4 148713255 148713255 single base substitution C T intron_variant BRCA-EU 4 148713294 148713294 single base substitution T C intron_variant BRCA-EU 4 148713432 148713432 single base substitution G A intron_variant BRCA-EU 4 148713487 148713487 single base substitution C G intron_variant BRCA-EU 4 148714659 148714659 single base substitution G T intron_variant BRCA-EU 4 148714680 148714680 single base substitution C T intron_variant BRCA-EU 4 148714807 148714807 single base substitution T A intron_variant BRCA-EU 4 148717524 148717524 single base substitution A G intron_variant BRCA-EU 4 148717670 148717670 deletion of <=200bp T - intron_variant BRCA-EU 4 148720116 148720116 single base substitution C G intron_variant BRCA-EU 4 148721437 148721437 single base substitution G A intron_variant BRCA-EU 4 148721776 148721776 single base substitution A C intron_variant BRCA-EU 4 148723658 148723658 single base substitution G C intron_variant BRCA-EU 4 148726731 148726731 single base substitution T C intron_variant BRCA-EU 4 148727833 148727833 single base substitution G C intron_variant BRCA-EU 4 148728601 148728601 single base substitution T A intron_variant BRCA-EU 4 148728999 148728999 single base substitution G C intron_variant BRCA-EU 4 148730026 148730026 single base substitution C G intron_variant BRCA-EU 4 148730416 148730416 single base substitution C T intron_variant BRCA-EU 4 148730745 148730745 single base substitution G A intron_variant BRCA-EU 4 148731221 148731221 single base substitution T A intron_variant BRCA-EU 4 148731626 148731626 single base substitution T G intron_variant BRCA-EU 4 148731954 148731954 single base substitution T A intron_variant BRCA-EU 4 148732629 148732629 single base substitution C T intron_variant BRCA-EU 4 148734112 148734112 single base substitution G A intron_variant BRCA-EU 4 148735098 148735098 single base substitution A G intron_variant BRCA-EU 4 148735249 148735249 single base substitution C G intron_variant BRCA-EU 4 148738941 148738941 single base substitution C G intron_variant BRCA-EU 4 148739790 148739790 single base substitution G C intron_variant BRCA-EU 4 148740957 148740957 single base substitution G A intron_variant BRCA-EU 4 148741206 148741206 single base substitution G A intron_variant BRCA-EU 4 148743613 148743613 single base substitution A C intron_variant BRCA-EU 4 148745170 148745170 deletion of <=200bp A - intron_variant BRCA-EU 4 148746794 148746794 single base substitution A T intron_variant BRCA-EU 4 148747760 148747760 single base substitution G A intron_variant BRCA-EU 4 148747902 148747902 single base substitution G T intron_variant BRCA-EU 4 148750318 148750318 single base substitution C T intron_variant BRCA-EU 4 148751633 148751633 deletion of <=200bp T - intron_variant BRCA-EU 4 148753178 148753178 single base substitution T G intron_variant BRCA-EU 4 148754135 148754135 single base substitution G A intron_variant BRCA-EU 4 148756758 148756758 single base substitution C T intron_variant BRCA-EU 4 148757383 148757383 deletion of <=200bp T - intron_variant BRCA-EU 4 148760187 148760187 deletion of <=200bp T - intron_variant BRCA-EU 4 148760777 148760777 single base substitution C A intron_variant BRCA-EU 4 148761471 148761471 single base substitution C G intron_variant BRCA-EU 4 148763939 148763939 single base substitution G C intron_variant BRCA-EU 4 148765115 148765115 single base substitution C A intron_variant BRCA-EU 4 148767963 148767963 insertion of <=200bp - A intron_variant BRCA-EU 4 148768171 148768171 single base substitution C T intron_variant BRCA-EU 4 148771713 148771713 single base substitution C G intron_variant BRCA-EU 4 148775243 148775243 deletion of <=200bp T - intron_variant BRCA-EU 4 148775450 148775450 single base substitution G A intron_variant BRCA-EU 4 148775516 148775516 single base substitution G A intron_variant BRCA-EU 4 148775759 148775759 deletion of <=200bp A - intron_variant BRCA-EU 4 148780359 148780359 single base substitution A T downstream_gene_variant BRCA-EU 4 148780359 148780359 single base substitution A T intron_variant BRCA-EU 4 148780359 148780359 single base substitution A T upstream_gene_variant BRCA-EU 4 148781203 148781203 single base substitution G A downstream_gene_variant BRCA-EU 4 148781203 148781203 single base substitution G A intron_variant BRCA-EU 4 148781203 148781203 single base substitution G A upstream_gene_variant BRCA-EU 4 148783229 148783229 single base substitution A C downstream_gene_variant BRCA-EU 4 148783229 148783229 single base substitution A C exon_variant BRCA-EU 4 148783229 148783229 single base substitution A C intron_variant BRCA-EU 4 148784342 148784342 single base substitution C T downstream_gene_variant BRCA-EU 4 148784342 148784342 single base substitution C T exon_variant BRCA-EU 4 148784342 148784342 single base substitution C T intron_variant BRCA-EU 4 148784804 148784804 single base substitution A C exon_variant BRCA-EU 4 148784804 148784804 single base substitution A C intron_variant BRCA-EU 4 148785182 148785182 single base substitution A G exon_variant BRCA-EU 4 148785182 148785182 single base substitution A G intron_variant BRCA-EU 4 148785689 148785689 single base substitution C T exon_variant BRCA-EU 4 148785689 148785689 single base substitution C T intron_variant BRCA-EU 4 148788557 148788557 single base substitution G A intron_variant BRCA-EU 4 148789803 148789803 single base substitution A G intron_variant BRCA-EU 4 148790059 148790059 single base substitution G A intron_variant BRCA-EU 4 148790889 148790889 single base substitution G A intron_variant BRCA-EU 4 148791158 148791158 insertion of <=200bp - TC intron_variant BRCA-EU 4 148791288 148791288 single base substitution G A intron_variant BRCA-EU 4 148792211 148792211 single base substitution C T intron_variant BRCA-EU 4 148792400 148792400 single base substitution C T intron_variant BRCA-EU 4 148792422 148792422 single base substitution T C intron_variant BRCA-EU 4 148792788 148792788 single base substitution A G intron_variant BRCA-EU 4 148795026 148795026 single base substitution T A intron_variant BRCA-EU 4 148796061 148796061 single base substitution A G intron_variant BRCA-EU 4 148796944 148796944 single base substitution T G intron_variant BRCA-EU 4 148798243 148798243 single base substitution T G intron_variant BRCA-EU 4 148798243 148798243 single base substitution T G upstream_gene_variant BRCA-EU 4 148799455 148799455 single base substitution C T intron_variant BRCA-EU 4 148799455 148799455 single base substitution C T upstream_gene_variant BRCA-EU 4 148799701 148799701 deletion of <=200bp A - intron_variant BRCA-EU 4 148799701 148799701 deletion of <=200bp A - upstream_gene_variant BRCA-EU 4 148801184 148801184 single base substitution C T intron_variant BRCA-EU 4 148801184 148801184 single base substitution C T upstream_gene_variant BRCA-EU 4 148801949 148801949 single base substitution C G intron_variant BRCA-EU 4 148801949 148801949 single base substitution C G upstream_gene_variant BRCA-EU 4 148802971 148802971 single base substitution C G intron_variant BRCA-EU 4 148802971 148802971 single base substitution C G upstream_gene_variant BRCA-EU 4 148803688 148803688 single base substitution C T intron_variant BRCA-EU 4 148804628 148804628 single base substitution T C intron_variant BRCA-EU 4 148804962 148804962 single base substitution C T intron_variant BRCA-EU 4 148805378 148805378 deletion of <=200bp T - intron_variant BRCA-EU 4 148805608 148805608 deletion of <=200bp A - intron_variant BRCA-EU 4 148805862 148805862 single base substitution A T intron_variant BRCA-EU 4 148805889 148805889 single base substitution G C intron_variant BRCA-EU 4 148805902 148805902 single base substitution G A intron_variant BRCA-EU 4 148807309 148807319 deletion of <=200bp AAAATCCAAAA - intron_variant BRCA-EU 4 148807749 148807749 single base substitution C G intron_variant BRCA-EU 4 148809027 148809027 single base substitution T A intron_variant BRCA-EU 4 148809028 148809028 single base substitution T A intron_variant BRCA-EU 4 148810546 148810546 single base substitution G A intron_variant BRCA-EU 4 148813022 148813022 single base substitution C T intron_variant BRCA-EU 4 148813946 148813946 single base substitution C A intron_variant BRCA-EU 4 148814215 148814215 insertion of <=200bp - C intron_variant BRCA-EU 4 148814309 148814309 single base substitution T A intron_variant BRCA-EU 4 148816272 148816272 single base substitution C G intron_variant BRCA-EU 4 148816564 148816564 single base substitution T C intron_variant BRCA-EU 4 148818638 148818638 insertion of <=200bp - T intron_variant BRCA-EU 4 148819273 148819273 single base substitution C G intron_variant BRCA-EU 4 148819612 148819612 single base substitution T A intron_variant BRCA-EU 4 148819800 148819800 single base substitution G C intron_variant BRCA-EU 4 148820856 148820856 single base substitution T C intron_variant BRCA-EU 4 148821410 148821410 single base substitution A T intron_variant BRCA-EU 4 148823410 148823457 deletion of <=200bp CAGTCCATTCTCCACCCAGCAACCAGACTGTTCATGTGCAATTTTAAC - intron_variant BRCA-EU 4 148824435 148824435 insertion of <=200bp - A intron_variant BRCA-EU 4 148824961 148824961 single base substitution A G intron_variant BRCA-EU 4 148827100 148827100 single base substitution G A intron_variant BRCA-EU 4 148827567 148827567 single base substitution A C intron_variant BRCA-EU 4 148829853 148829853 single base substitution T A intron_variant BRCA-EU 4 148829999 148829999 single base substitution T C intron_variant BRCA-EU 4 148830268 148830268 single base substitution A C intron_variant BRCA-EU 4 148831499 148831499 single base substitution C T intron_variant BRCA-EU 4 148833426 148833426 single base substitution C G intron_variant BRCA-EU 4 148835977 148835977 single base substitution G A intron_variant BRCA-EU 4 148835998 148835998 deletion of <=200bp T - intron_variant BRCA-EU 4 148838149 148838149 single base substitution C T intron_variant BRCA-EU 4 148838688 148838688 single base substitution C T intron_variant BRCA-EU 4 148838998 148838998 single base substitution G A intron_variant BRCA-EU 4 148841516 148841516 single base substitution G T intron_variant BRCA-EU 4 148843114 148843114 single base substitution C T intron_variant BRCA-EU 4 148847068 148847068 single base substitution G A intron_variant BRCA-EU 4 148847429 148847429 single base substitution C T intron_variant BRCA-EU 4 148847537 148847537 single base substitution G A intron_variant BRCA-EU 4 148848208 148848208 single base substitution C T intron_variant BRCA-EU 4 148848919 148848919 single base substitution G A intron_variant BRCA-EU 4 148849043 148849043 single base substitution G A intron_variant BRCA-EU 4 148849116 148849116 single base substitution G C intron_variant BRCA-EU 4 148849922 148849922 deletion of <=200bp A - intron_variant BRCA-EU 4 148853716 148853716 single base substitution A G intron_variant BRCA-EU 4 148853805 148853805 single base substitution C T intron_variant BRCA-EU 4 148855819 148855819 single base substitution C G intron_variant BRCA-EU 4 148857623 148857623 single base substitution G T intron_variant BRCA-EU 4 148858651 148858651 single base substitution G T intron_variant BRCA-EU 4 148862061 148862061 single base substitution T C intron_variant BRCA-EU 4 148862774 148862774 single base substitution G C intron_variant BRCA-EU 4 148862774 148862774 single base substitution G C upstream_gene_variant BRCA-EU 4 148864364 148864364 single base substitution A C intron_variant BRCA-EU 4 148864364 148864364 single base substitution A C upstream_gene_variant BRCA-EU 4 148865376 148865376 single base substitution C G intron_variant BRCA-EU 4 148865376 148865376 single base substitution C G upstream_gene_variant BRCA-EU 4 148865376 148865376 single base substitution C T intron_variant BRCA-EU 4 148865376 148865376 single base substitution C T upstream_gene_variant BRCA-EU 4 148865785 148865785 single base substitution G A intron_variant BRCA-EU 4 148865785 148865785 single base substitution G A upstream_gene_variant BRCA-EU 4 148866635 148866635 single base substitution G C intron_variant BRCA-EU 4 148866635 148866635 single base substitution G C upstream_gene_variant BRCA-EU 4 148867578 148867578 single base substitution G A exon_variant BRCA-EU 4 148867578 148867578 single base substitution G A intron_variant BRCA-EU 4 148867661 148867661 single base substitution C T exon_variant BRCA-EU 4 148867661 148867661 single base substitution C T intron_variant BRCA-EU 4 148867809 148867809 single base substitution G A exon_variant BRCA-EU 4 148867809 148867809 single base substitution G A missense_variant D126N 376G>A BRCA-EU 4 148867809 148867809 single base substitution G A missense_variant D449N 1345G>A BRCA-EU 4 148867809 148867809 single base substitution G A missense_variant D98N 292G>A BRCA-EU 4 148869292 148869292 single base substitution G A intron_variant BRCA-EU 4 148870436 148870436 deletion of <=200bp A - intron_variant BRCA-EU 4 148873608 148873608 single base substitution G A intron_variant BRCA-EU 4 148875982 148875982 single base substitution T C intron_variant BRCA-EU 4 148876339 148876339 single base substitution G A intron_variant BRCA-EU 4 148876757 148876757 single base substitution T C intron_variant BRCA-EU 4 148881626 148881626 single base substitution C T intron_variant BRCA-EU 4 148881682 148881682 deletion of <=200bp A - intron_variant BRCA-EU 4 148882391 148882391 single base substitution C G intron_variant BRCA-EU 4 148883286 148883286 single base substitution C T intron_variant BRCA-EU 4 148884192 148884192 single base substitution C G intron_variant BRCA-EU 4 148884317 148884317 single base substitution C T intron_variant BRCA-EU 4 148887333 148887333 single base substitution C A intron_variant BRCA-EU 4 148889885 148889885 single base substitution C G intron_variant BRCA-EU 4 148897310 148897310 single base substitution C G intron_variant BRCA-EU 4 148898275 148898275 single base substitution G A intron_variant BRCA-EU 4 148898817 148898817 single base substitution T A intron_variant BRCA-EU 4 148899629 148899629 single base substitution T C intron_variant BRCA-EU 4 148899942 148899942 single base substitution T C intron_variant BRCA-EU 4 148901195 148901195 single base substitution T C intron_variant BRCA-EU 4 148901321 148901321 single base substitution C T intron_variant BRCA-EU 4 148902794 148902794 single base substitution T C intron_variant BRCA-EU 4 148904668 148904668 single base substitution C G intron_variant BRCA-EU 4 148904706 148904706 single base substitution G C intron_variant BRCA-EU 4 148908595 148908595 single base substitution C G intron_variant BRCA-EU 4 148912846 148912846 single base substitution C T intron_variant BRCA-EU 4 148913384 148913384 single base substitution G A intron_variant BRCA-EU 4 148914682 148914682 single base substitution C G intron_variant BRCA-EU 4 148915331 148915331 single base substitution C T intron_variant BRCA-EU 4 148915431 148915431 single base substitution G C intron_variant BRCA-EU 4 148915632 148915632 single base substitution C G intron_variant BRCA-EU 4 148915984 148915984 single base substitution G C intron_variant BRCA-EU 4 148916308 148916308 single base substitution C T intron_variant BRCA-EU 4 148916649 148916649 single base substitution G A intron_variant BRCA-EU 4 148917578 148917578 single base substitution T A intron_variant BRCA-EU 4 148918239 148918240 deletion of <=200bp AC - intron_variant BRCA-EU 4 148918696 148918696 single base substitution G C intron_variant BRCA-EU 4 148918945 148918945 single base substitution A G intron_variant BRCA-EU 4 148919659 148919659 single base substitution T C intron_variant BRCA-EU 4 148920084 148920084 single base substitution A C intron_variant BRCA-EU 4 148921539 148921539 single base substitution G A intron_variant BRCA-EU 4 148922122 148922122 deletion of <=200bp T - intron_variant BRCA-EU 4 148922489 148922489 single base substitution C T intron_variant BRCA-EU 4 148923774 148923774 single base substitution C T intron_variant BRCA-EU 4 148924227 148924227 single base substitution A G intron_variant BRCA-EU 4 148924580 148924580 single base substitution G A intron_variant BRCA-EU 4 148926006 148926006 single base substitution T C intron_variant BRCA-EU 4 148926413 148926413 single base substitution G C intron_variant BRCA-EU 4 148926556 148926556 single base substitution G A intron_variant BRCA-EU 4 148928634 148928634 single base substitution G A intron_variant BRCA-EU 4 148930843 148930843 deletion of <=200bp T - intron_variant BRCA-EU 4 148930921 148930921 single base substitution C A intron_variant BRCA-EU 4 148930974 148930974 single base substitution C T intron_variant BRCA-EU 4 148931153 148931153 single base substitution G T intron_variant BRCA-EU 4 148931258 148931258 deletion of <=200bp T - intron_variant BRCA-EU 4 148931269 148931269 single base substitution C G intron_variant BRCA-EU 4 148931599 148931599 single base substitution T A intron_variant BRCA-EU 4 148932454 148932454 single base substitution G T intron_variant BRCA-EU 4 148933335 148933335 single base substitution C A intron_variant BRCA-EU 4 148933713 148933713 single base substitution A G intron_variant BRCA-EU 4 148934546 148934546 single base substitution A G intron_variant BRCA-EU 4 148935916 148935916 single base substitution C T intron_variant BRCA-EU 4 148936451 148936451 single base substitution A G intron_variant BRCA-EU 4 148936705 148936705 single base substitution G A intron_variant BRCA-EU 4 148936835 148936835 single base substitution G A intron_variant BRCA-EU 4 148937064 148937064 single base substitution T C intron_variant BRCA-EU 4 148937481 148937481 single base substitution C A intron_variant BRCA-EU 4 148939141 148939141 single base substitution A G intron_variant BRCA-EU 4 148939230 148939230 single base substitution C G intron_variant BRCA-EU 4 148939230 148939230 single base substitution C G upstream_gene_variant BRCA-EU 4 148939609 148939609 single base substitution G C intron_variant BRCA-EU 4 148939609 148939609 single base substitution G C upstream_gene_variant BRCA-EU 4 148940258 148940258 single base substitution A T intron_variant BRCA-EU 4 148940258 148940258 single base substitution A T upstream_gene_variant BRCA-EU 4 148942851 148942851 single base substitution G A intron_variant BRCA-EU 4 148942851 148942851 single base substitution G A upstream_gene_variant BRCA-EU 4 148943497 148943514 deletion of <=200bp CTTCCTGTTTTCTGCTTC - intron_variant BRCA-EU 4 148943497 148943514 deletion of <=200bp CTTCCTGTTTTCTGCTTC - upstream_gene_variant BRCA-EU 4 148943529 148943529 single base substitution C T intron_variant BRCA-EU 4 148943529 148943529 single base substitution C T upstream_gene_variant BRCA-EU 4 148943763 148943763 single base substitution T A intron_variant BRCA-EU 4 148943763 148943763 single base substitution T A upstream_gene_variant BRCA-EU 4 148945656 148945656 single base substitution G C intron_variant BRCA-EU 4 148946255 148946255 single base substitution A G intron_variant BRCA-EU 4 148946640 148946640 single base substitution C T intron_variant BRCA-EU 4 148946939 148946939 single base substitution G A intron_variant BRCA-EU 4 148947513 148947513 single base substitution G T intron_variant BRCA-EU 4 148948124 148948124 single base substitution T C intron_variant BRCA-EU 4 148948819 148948819 single base substitution G T intron_variant BRCA-EU 4 148949136 148949136 single base substitution A T intron_variant BRCA-EU 4 148949694 148949694 single base substitution G A intron_variant BRCA-EU 4 148950817 148950817 deletion of <=200bp T - intron_variant BRCA-EU 4 148952269 148952269 single base substitution T G intron_variant BRCA-EU 4 148952379 148952379 single base substitution T C intron_variant BRCA-EU 4 148952718 148952718 single base substitution C T intron_variant BRCA-EU 4 148954711 148954711 single base substitution C G intron_variant BRCA-EU 4 148955130 148955130 single base substitution A G intron_variant BRCA-EU 4 148956831 148956831 single base substitution A C intron_variant BRCA-EU 4 148956873 148956873 single base substitution C T intron_variant BRCA-EU 4 148957036 148957061 deletion of <=200bp TACTTACTACTCTATGGACAGTAAAG - intron_variant BRCA-EU 4 148957150 148957150 single base substitution T C intron_variant BRCA-EU 4 148957443 148957443 single base substitution G A intron_variant BRCA-EU 4 148957988 148957988 single base substitution A G intron_variant BRCA-EU 4 148958135 148958135 deletion of <=200bp A - intron_variant BRCA-EU 4 148959926 148959926 single base substitution A C intron_variant BRCA-EU 4 148962876 148962876 single base substitution G A intron_variant BRCA-EU 4 148964447 148964447 single base substitution G C intron_variant BRCA-EU 4 148965402 148965402 deletion of <=200bp A - intron_variant BRCA-EU 4 148965712 148965712 single base substitution C T intron_variant BRCA-EU 4 148965862 148965862 single base substitution G A intron_variant BRCA-EU 4 148966630 148966630 single base substitution C T intron_variant BRCA-EU 4 148967255 148967255 single base substitution G T intron_variant BRCA-EU 4 148968972 148968972 insertion of <=200bp - T intron_variant BRCA-EU 4 148969693 148969693 single base substitution G A intron_variant BRCA-EU 4 148971628 148971628 single base substitution T C intron_variant BRCA-EU 4 148971824 148971824 single base substitution G C intron_variant BRCA-EU 4 148972060 148972060 single base substitution C T intron_variant BRCA-EU 4 148972578 148972578 deletion of <=200bp T - intron_variant BRCA-EU 4 148973968 148973968 single base substitution T C intron_variant BRCA-EU 4 148975432 148975432 single base substitution C A intron_variant BRCA-EU 4 148977881 148977881 single base substitution C G intron_variant BRCA-EU 4 148978351 148978351 single base substitution A C intron_variant BRCA-EU 4 148979710 148979710 single base substitution G C intron_variant BRCA-EU 4 148980010 148980010 single base substitution A G intron_variant BRCA-EU 4 148983036 148983036 single base substitution G A intron_variant BRCA-EU 4 148983036 148983036 single base substitution G A upstream_gene_variant BRCA-EU 4 148983436 148983436 single base substitution C A intron_variant BRCA-EU 4 148983436 148983436 single base substitution C A upstream_gene_variant BRCA-EU 4 148983735 148983735 deletion of <=200bp A - intron_variant BRCA-EU 4 148983735 148983735 deletion of <=200bp A - upstream_gene_variant BRCA-EU 4 148984178 148984178 single base substitution C T intron_variant BRCA-EU 4 148984178 148984178 single base substitution C T upstream_gene_variant BRCA-EU 4 148985923 148985923 single base substitution C G downstream_gene_variant BRCA-EU 4 148985923 148985923 single base substitution C G intron_variant BRCA-EU 4 148985923 148985923 single base substitution C G upstream_gene_variant BRCA-EU 4 148986742 148986742 single base substitution G C downstream_gene_variant BRCA-EU 4 148986742 148986742 single base substitution G C exon_variant BRCA-EU 4 148986742 148986742 single base substitution G C intron_variant BRCA-EU 4 148987335 148987335 single base substitution G A downstream_gene_variant BRCA-EU 4 148987335 148987335 single base substitution G A intron_variant BRCA-EU 4 148988008 148988008 single base substitution T C downstream_gene_variant BRCA-EU 4 148988008 148988008 single base substitution T C intron_variant BRCA-EU 4 148989738 148989738 single base substitution T C intron_variant BRCA-EU 4 148991917 148991917 single base substitution C T intron_variant BRCA-EU 4 148992161 148992161 single base substitution C T intron_variant BRCA-EU 4 148993468 148993468 single base substitution C A 3_prime_UTR_variant BRCA-EU 4 148993468 148993468 single base substitution C A exon_variant BRCA-EU 4 148993468 148993468 single base substitution C A intron_variant BRCA-EU 4 148995534 148995534 single base substitution C T downstream_gene_variant BRCA-EU 4 148996373 148996373 single base substitution G C downstream_gene_variant BRCA-FR 4 148656879 148656879 single base substitution C G intron_variant BRCA-FR 4 148658767 148658767 single base substitution C G intron_variant BRCA-FR 4 148669212 148669212 single base substitution C T intron_variant BRCA-FR 4 148676935 148676935 single base substitution G T intron_variant BRCA-FR 4 148685769 148685769 single base substitution C G intron_variant BRCA-FR 4 148686236 148686236 single base substitution T C intron_variant BRCA-FR 4 148693192 148693192 single base substitution C T intron_variant BRCA-FR 4 148713432 148713432 single base substitution G A intron_variant BRCA-FR 4 148715023 148715023 single base substitution T C intron_variant BRCA-FR 4 148717524 148717524 single base substitution A G intron_variant BRCA-FR 4 148720986 148720986 single base substitution G A intron_variant BRCA-FR 4 148721437 148721437 single base substitution G A intron_variant BRCA-FR 4 148728601 148728601 single base substitution T A intron_variant BRCA-FR 4 148730026 148730026 single base substitution C G intron_variant BRCA-FR 4 148731221 148731221 single base substitution T A intron_variant BRCA-FR 4 148731634 148731634 single base substitution T C intron_variant BRCA-FR 4 148731954 148731954 single base substitution T A intron_variant BRCA-FR 4 148734112 148734112 single base substitution G A intron_variant BRCA-FR 4 148740957 148740957 single base substitution G A intron_variant BRCA-FR 4 148756758 148756758 single base substitution C T intron_variant BRCA-FR 4 148765115 148765115 single base substitution C A intron_variant BRCA-FR 4 148790059 148790059 single base substitution G A intron_variant BRCA-FR 4 148790894 148790894 single base substitution C A intron_variant BRCA-FR 4 148807749 148807749 single base substitution C G intron_variant BRCA-FR 4 148827567 148827567 single base substitution A C intron_variant BRCA-FR 4 148838149 148838149 single base substitution C T intron_variant BRCA-FR 4 148841516 148841516 single base substitution G T intron_variant BRCA-FR 4 148841763 148841763 single base substitution T C intron_variant BRCA-FR 4 148846136 148846136 single base substitution A T intron_variant BRCA-FR 4 148847537 148847537 single base substitution G A intron_variant BRCA-FR 4 148858651 148858651 single base substitution G T intron_variant BRCA-FR 4 148867661 148867661 single base substitution C T exon_variant BRCA-FR 4 148867661 148867661 single base substitution C T intron_variant BRCA-FR 4 148884192 148884192 single base substitution C G intron_variant BRCA-FR 4 148889885 148889885 single base substitution C G intron_variant BRCA-FR 4 148915632 148915632 single base substitution C G intron_variant BRCA-FR 4 148922012 148922012 single base substitution T G intron_variant BRCA-FR 4 148922738 148922738 single base substitution C T intron_variant BRCA-FR 4 148923216 148923216 single base substitution C G intron_variant BRCA-FR 4 148931153 148931153 single base substitution G T intron_variant BRCA-FR 4 148943763 148943763 single base substitution T A intron_variant BRCA-FR 4 148943763 148943763 single base substitution T A upstream_gene_variant BRCA-FR 4 148946939 148946939 single base substitution G A intron_variant BRCA-FR 4 148948819 148948819 single base substitution G T intron_variant BRCA-FR 4 148985923 148985923 single base substitution C G downstream_gene_variant BRCA-FR 4 148985923 148985923 single base substitution C G intron_variant BRCA-FR 4 148985923 148985923 single base substitution C G upstream_gene_variant BRCA-FR 4 148987335 148987335 single base substitution G A downstream_gene_variant BRCA-FR 4 148987335 148987335 single base substitution G A intron_variant BRCA-FR 4 148988008 148988008 single base substitution T C downstream_gene_variant BRCA-FR 4 148988008 148988008 single base substitution T C intron_variant BRCA-FR 4 148989357 148989357 single base substitution G T downstream_gene_variant BRCA-FR 4 148989357 148989357 single base substitution G T intron_variant BRCA-FR 4 148989738 148989738 single base substitution T C intron_variant BRCA-FR 4 148990306 148990306 single base substitution G A intron_variant BRCA-FR 4 148993881 148993881 single base substitution C T 3_prime_UTR_variant BRCA-FR 4 148993881 148993881 single base substitution C T downstream_gene_variant BRCA-FR 4 148993881 148993881 single base substitution C T exon_variant BRCA-KR 4 148703826 148703826 single base substitution T C intron_variant BRCA-UK 4 148652771 148652771 single base substitution C T upstream_gene_variant BRCA-UK 4 148736221 148736221 single base substitution C G intron_variant BRCA-UK 4 148747902 148747902 single base substitution G T intron_variant BRCA-UK 4 148847275 148847275 single base substitution G A intron_variant BRCA-UK 4 148853805 148853805 single base substitution C T intron_variant BRCA-UK 4 148894601 148894601 single base substitution G C intron_variant BRCA-UK 4 148930921 148930921 single base substitution C A intron_variant BRCA-UK 4 148957988 148957988 single base substitution A G intron_variant BRCA-UK 4 148965862 148965862 single base substitution G A intron_variant BRCA-UK 4 148969693 148969693 single base substitution G A intron_variant BRCA-UK 4 148971824 148971824 single base substitution G C intron_variant BRCA-UK 4 148980010 148980010 single base substitution A G intron_variant BRCA-UK 4 148997704 148997704 single base substitution G C downstream_gene_variant BRCA-US 4 148787878 148787878 single base substitution C T exon_variant BRCA-US 4 148787878 148787878 single base substitution C T stop_gained Q205* 613C>T BRCA-US 4 148796228 148796228 single base substitution C G exon_variant BRCA-US 4 148796228 148796228 single base substitution C G missense_variant I253M 759C>G BRCA-US 4 148985600 148985600 single base substitution G A downstream_gene_variant BRCA-US 4 148985600 148985600 single base substitution G A exon_variant BRCA-US 4 148985600 148985600 single base substitution G A synonymous_variant P336P 1008G>A BRCA-US 4 148985600 148985600 single base substitution G A synonymous_variant P364P 1092G>A BRCA-US 4 148985600 148985600 single base substitution G A synonymous_variant P738P 2214G>A BRCA-US 4 148985600 148985600 single base substitution G A upstream_gene_variant BTCA-JP 4 148744154 148744154 deletion of <=200bp A - intron_variant BTCA-JP 4 148785860 148785860 single base substitution C T exon_variant BTCA-JP 4 148785860 148785860 single base substitution C T intron_variant BTCA-JP 4 148887997 148887997 deletion of <=200bp T - splice_region_variant CESC-US 4 148653506 148653506 single base substitution C G exon_variant CESC-US 4 148653506 148653506 single base substitution C G missense_variant F18L 54C>G CLLE-ES 4 148652273 148652273 single base substitution G A upstream_gene_variant CLLE-ES 4 148655662 148655662 single base substitution A T intron_variant CLLE-ES 4 148660141 148660141 single base substitution C A intron_variant CLLE-ES 4 148669419 148669419 deletion of <=200bp G - intron_variant CLLE-ES 4 148671448 148671448 single base substitution T C intron_variant CLLE-ES 4 148678273 148678273 single base substitution G A intron_variant CLLE-ES 4 148679223 148679223 single base substitution G A intron_variant CLLE-ES 4 148682464 148682464 single base substitution G A intron_variant CLLE-ES 4 148684922 148684922 single base substitution T A intron_variant CLLE-ES 4 148687355 148687355 single base substitution C T intron_variant CLLE-ES 4 148704838 148704838 single base substitution A G intron_variant CLLE-ES 4 148718888 148718888 single base substitution T A intron_variant CLLE-ES 4 148726304 148726304 single base substitution T A intron_variant CLLE-ES 4 148728459 148728459 single base substitution A T intron_variant CLLE-ES 4 148729438 148729438 single base substitution G A intron_variant CLLE-ES 4 148748327 148748328 deletion of <=200bp CA - intron_variant CLLE-ES 4 148752521 148752521 single base substitution A C intron_variant CLLE-ES 4 148753571 148753571 single base substitution G A intron_variant CLLE-ES 4 148754883 148754883 single base substitution T C intron_variant CLLE-ES 4 148761074 148761074 single base substitution T A intron_variant CLLE-ES 4 148762989 148762989 single base substitution T C intron_variant CLLE-ES 4 148767285 148767285 single base substitution C T intron_variant CLLE-ES 4 148791544 148791544 single base substitution G A intron_variant CLLE-ES 4 148796056 148796056 single base substitution A G intron_variant CLLE-ES 4 148815084 148815084 single base substitution G A intron_variant CLLE-ES 4 148829884 148829884 single base substitution T C intron_variant CLLE-ES 4 148848722 148848722 single base substitution C T intron_variant CLLE-ES 4 148854612 148854612 single base substitution C A intron_variant CLLE-ES 4 148861383 148861383 single base substitution T C intron_variant CLLE-ES 4 148862450 148862450 single base substitution T C intron_variant CLLE-ES 4 148862450 148862450 single base substitution T C upstream_gene_variant CLLE-ES 4 148865416 148865416 single base substitution G T intron_variant CLLE-ES 4 148865416 148865416 single base substitution G T upstream_gene_variant CLLE-ES 4 148877674 148877674 single base substitution G A intron_variant CLLE-ES 4 148881952 148881952 single base substitution A C intron_variant CLLE-ES 4 148907106 148907106 single base substitution G A intron_variant CLLE-ES 4 148914600 148914600 single base substitution G A intron_variant CLLE-ES 4 148918230 148918230 single base substitution G A intron_variant CLLE-ES 4 148921883 148921883 single base substitution G T intron_variant CLLE-ES 4 148938926 148938926 single base substitution A G intron_variant CLLE-ES 4 148947334 148947334 single base substitution A G intron_variant CLLE-ES 4 148947911 148947911 single base substitution G T intron_variant CLLE-ES 4 148963060 148963060 single base substitution A G intron_variant CLLE-ES 4 148964431 148964431 single base substitution G A intron_variant CLLE-ES 4 148966349 148966349 single base substitution T C intron_variant CLLE-ES 4 148969632 148969632 single base substitution A G intron_variant CLLE-ES 4 148972592 148972592 single base substitution C T intron_variant CLLE-ES 4 148972827 148972827 single base substitution G C intron_variant CLLE-ES 4 148989265 148989265 single base substitution A C downstream_gene_variant CLLE-ES 4 148989265 148989265 single base substitution A C intron_variant CLLE-ES 4 148989352 148989352 single base substitution G T downstream_gene_variant CLLE-ES 4 148989352 148989352 single base substitution G T intron_variant CLLE-ES 4 148989473 148989473 single base substitution G T intron_variant CLLE-ES 4 148990785 148990785 single base substitution G T intron_variant CLLE-ES 4 148996555 148996555 single base substitution T G downstream_gene_variant COAD-US 4 148800393 148800393 single base substitution G A exon_variant COAD-US 4 148800393 148800393 single base substitution G A synonymous_variant P281P 843G>A COAD-US 4 148800393 148800393 single base substitution G A upstream_gene_variant COAD-US 4 148876466 148876466 single base substitution G T splice_acceptor_variant COAD-US 4 148887899 148887899 single base substitution T C exon_variant COAD-US 4 148887899 148887899 single base substitution T C missense_variant L191P 572T>C COAD-US 4 148887899 148887899 single base substitution T C missense_variant L219P 656T>C COAD-US 4 148887899 148887899 single base substitution T C missense_variant L542P 1625T>C COAD-US 4 148887925 148887925 single base substitution G A exon_variant COAD-US 4 148887925 148887925 single base substitution G A missense_variant A200T 598G>A COAD-US 4 148887925 148887925 single base substitution G A missense_variant A228T 682G>A COAD-US 4 148887925 148887925 single base substitution G A missense_variant A551T 1651G>A COAD-US 4 148944471 148944471 deletion of <=200bp C - exon_variant COAD-US 4 148944471 148944471 deletion of <=200bp C - frameshift_variant P241 COAD-US 4 148944471 148944471 deletion of <=200bp C - frameshift_variant P269 COAD-US 4 148944471 148944471 deletion of <=200bp C - frameshift_variant P592 COCA-CN 4 148653576 148653576 single base substitution G A exon_variant COCA-CN 4 148653576 148653576 single base substitution G A missense_variant D42N 124G>A COCA-CN 4 148662947 148662947 single base substitution A G intron_variant COCA-CN 4 148703789 148703789 single base substitution G A intron_variant COCA-CN 4 148768375 148768375 single base substitution T G splice_donor_variant COCA-CN 4 148768389 148768389 single base substitution G T intron_variant COCA-CN 4 148778759 148778759 single base substitution A C exon_variant COCA-CN 4 148778759 148778759 single base substitution A C missense_variant K147T 440A>C COCA-CN 4 148778759 148778759 single base substitution A C upstream_gene_variant COCA-CN 4 148787841 148787841 single base substitution C A exon_variant COCA-CN 4 148787841 148787841 single base substitution C A intron_variant COCA-CN 4 148791157 148791157 single base substitution G C intron_variant COCA-CN 4 148800263 148800263 single base substitution C A intron_variant COCA-CN 4 148800263 148800263 single base substitution C A upstream_gene_variant COCA-CN 4 148803120 148803120 single base substitution C T intron_variant COCA-CN 4 148815292 148815292 single base substitution G T intron_variant COCA-CN 4 148827782 148827782 single base substitution C A splice_region_variant COCA-CN 4 148827973 148827973 single base substitution A G intron_variant COCA-CN 4 148834218 148834218 single base substitution C A splice_region_variant COCA-CN 4 148904124 148904124 single base substitution T C intron_variant COCA-CN 4 148920221 148920221 single base substitution C A intron_variant COCA-CN 4 148968114 148968114 single base substitution G A exon_variant COCA-CN 4 148968114 148968114 single base substitution G A missense_variant V296M 886G>A COCA-CN 4 148968114 148968114 single base substitution G A missense_variant V324M 970G>A COCA-CN 4 148968114 148968114 single base substitution G A missense_variant V647M 1939G>A COCA-CN 4 148970021 148970021 single base substitution G A intron_variant COCA-CN 4 148981146 148981146 single base substitution G A intron_variant COCA-CN 4 148987790 148987790 single base substitution G C downstream_gene_variant COCA-CN 4 148987790 148987790 single base substitution G C intron_variant COCA-CN 4 148989849 148989849 single base substitution G A intron_variant EOPC-DE 4 148660230 148660230 single base substitution C T intron_variant EOPC-DE 4 148663744 148663744 single base substitution C T intron_variant EOPC-DE 4 148728551 148728551 single base substitution C A intron_variant EOPC-DE 4 148773955 148773955 single base substitution C T intron_variant EOPC-DE 4 148792818 148792818 single base substitution C T intron_variant EOPC-DE 4 148829584 148829584 single base substitution G A intron_variant ESAD-UK 4 148648439 148648439 single base substitution G A upstream_gene_variant ESAD-UK 4 148656549 148656549 single base substitution T C intron_variant ESAD-UK 4 148658061 148658061 single base substitution G A intron_variant ESAD-UK 4 148658380 148658380 single base substitution C A intron_variant ESAD-UK 4 148660242 148660242 single base substitution G A intron_variant ESAD-UK 4 148660644 148660644 single base substitution A T intron_variant ESAD-UK 4 148661690 148661690 single base substitution T G intron_variant ESAD-UK 4 148662703 148662703 single base substitution A G intron_variant ESAD-UK 4 148662940 148662940 insertion of <=200bp - CG intron_variant ESAD-UK 4 148662950 148662950 insertion of <=200bp - CACG intron_variant ESAD-UK 4 148663935 148663935 single base substitution G A intron_variant ESAD-UK 4 148664974 148664974 single base substitution C T intron_variant ESAD-UK 4 148665319 148665319 single base substitution T C intron_variant ESAD-UK 4 148669279 148669279 single base substitution C T intron_variant ESAD-UK 4 148669398 148669398 single base substitution G T intron_variant ESAD-UK 4 148670287 148670287 single base substitution A T intron_variant ESAD-UK 4 148670454 148670454 single base substitution A T intron_variant ESAD-UK 4 148670458 148670458 single base substitution T G intron_variant ESAD-UK 4 148670514 148670514 single base substitution A T intron_variant ESAD-UK 4 148670669 148670669 single base substitution C T intron_variant ESAD-UK 4 148670989 148670989 single base substitution T C intron_variant ESAD-UK 4 148672385 148672385 insertion of <=200bp - AGATGTT intron_variant ESAD-UK 4 148673777 148673777 single base substitution C T intron_variant ESAD-UK 4 148673976 148673976 single base substitution C T intron_variant ESAD-UK 4 148674899 148674899 single base substitution T C intron_variant ESAD-UK 4 148676181 148676181 single base substitution C T intron_variant ESAD-UK 4 148677395 148677395 single base substitution C T intron_variant ESAD-UK 4 148678174 148678174 insertion of <=200bp - GA intron_variant ESAD-UK 4 148679163 148679163 single base substitution C T intron_variant ESAD-UK 4 148679475 148679475 insertion of <=200bp - T intron_variant ESAD-UK 4 148680857 148680857 insertion of <=200bp - T intron_variant ESAD-UK 4 148683634 148683634 deletion of <=200bp A - intron_variant ESAD-UK 4 148685286 148685286 single base substitution A G intron_variant ESAD-UK 4 148685652 148685652 single base substitution C A intron_variant ESAD-UK 4 148686120 148686120 single base substitution G C intron_variant ESAD-UK 4 148686284 148686298 deletion of <=200bp ATGGGGAAATCTAGG - intron_variant ESAD-UK 4 148686490 148686490 insertion of <=200bp - T intron_variant ESAD-UK 4 148686491 148686491 insertion of <=200bp - T intron_variant ESAD-UK 4 148686491 148686491 single base substitution G T intron_variant ESAD-UK 4 148688198 148688198 single base substitution C G intron_variant ESAD-UK 4 148690010 148690010 single base substitution C T intron_variant ESAD-UK 4 148690708 148690708 single base substitution C A intron_variant ESAD-UK 4 148691570 148691570 single base substitution G A intron_variant ESAD-UK 4 148696187 148696187 single base substitution T G intron_variant ESAD-UK 4 148696375 148696375 single base substitution A C intron_variant ESAD-UK 4 148697902 148697902 single base substitution C T intron_variant ESAD-UK 4 148700229 148700229 single base substitution G A intron_variant ESAD-UK 4 148704408 148704408 single base substitution A C intron_variant ESAD-UK 4 148709290 148709290 single base substitution T G intron_variant ESAD-UK 4 148709936 148709936 single base substitution A T intron_variant ESAD-UK 4 148711706 148711706 single base substitution T A intron_variant ESAD-UK 4 148712582 148712582 insertion of <=200bp - A intron_variant ESAD-UK 4 148714377 148714377 single base substitution G A intron_variant ESAD-UK 4 148714474 148714474 single base substitution T A intron_variant ESAD-UK 4 148714558 148714558 single base substitution C T intron_variant ESAD-UK 4 148715245 148715245 single base substitution A T intron_variant ESAD-UK 4 148717012 148717012 single base substitution A C intron_variant ESAD-UK 4 148718755 148718755 single base substitution G A intron_variant ESAD-UK 4 148719365 148719365 single base substitution T C intron_variant ESAD-UK 4 148720190 148720190 single base substitution T C intron_variant ESAD-UK 4 148725639 148725639 single base substitution A G intron_variant ESAD-UK 4 148725899 148725899 deletion of <=200bp T - intron_variant ESAD-UK 4 148726551 148726551 single base substitution A C intron_variant ESAD-UK 4 148727554 148727554 single base substitution T C intron_variant ESAD-UK 4 148728521 148728521 single base substitution T C intron_variant ESAD-UK 4 148729059 148729059 single base substitution T G intron_variant ESAD-UK 4 148732742 148732742 single base substitution A T intron_variant ESAD-UK 4 148734255 148734255 single base substitution A T intron_variant ESAD-UK 4 148736319 148736319 single base substitution C T intron_variant ESAD-UK 4 148738822 148738822 single base substitution C G intron_variant ESAD-UK 4 148740058 148740058 single base substitution G T intron_variant ESAD-UK 4 148744550 148744550 single base substitution T G intron_variant ESAD-UK 4 148745526 148745526 single base substitution C T intron_variant ESAD-UK 4 148745596 148745596 single base substitution C A intron_variant ESAD-UK 4 148749971 148749971 single base substitution C T intron_variant ESAD-UK 4 148750147 148750147 single base substitution A T intron_variant ESAD-UK 4 148750982 148750982 single base substitution T G intron_variant ESAD-UK 4 148751604 148751604 single base substitution G T intron_variant ESAD-UK 4 148753582 148753582 single base substitution G C intron_variant ESAD-UK 4 148755480 148755480 single base substitution G T intron_variant ESAD-UK 4 148756944 148756944 single base substitution A T intron_variant ESAD-UK 4 148758159 148758159 single base substitution C T intron_variant ESAD-UK 4 148758961 148758961 single base substitution T A intron_variant ESAD-UK 4 148760937 148760937 single base substitution G T intron_variant ESAD-UK 4 148761971 148761971 single base substitution C G intron_variant ESAD-UK 4 148763049 148763049 single base substitution A T intron_variant ESAD-UK 4 148763198 148763198 single base substitution C T intron_variant ESAD-UK 4 148764642 148764642 single base substitution C T intron_variant ESAD-UK 4 148765372 148765372 single base substitution G A intron_variant ESAD-UK 4 148765919 148765919 single base substitution C T intron_variant ESAD-UK 4 148766676 148766676 single base substitution T G intron_variant ESAD-UK 4 148767517 148767517 single base substitution T C intron_variant ESAD-UK 4 148768692 148768692 single base substitution G C intron_variant ESAD-UK 4 148769835 148769835 single base substitution G A intron_variant ESAD-UK 4 148772705 148772705 single base substitution A C intron_variant ESAD-UK 4 148773559 148773559 single base substitution T G intron_variant ESAD-UK 4 148775759 148775759 single base substitution A G intron_variant ESAD-UK 4 148777570 148777570 single base substitution T G intron_variant ESAD-UK 4 148777570 148777570 single base substitution T G upstream_gene_variant ESAD-UK 4 148777680 148777680 single base substitution T G intron_variant ESAD-UK 4 148777680 148777680 single base substitution T G upstream_gene_variant ESAD-UK 4 148778139 148778139 single base substitution G T intron_variant ESAD-UK 4 148778139 148778139 single base substitution G T upstream_gene_variant ESAD-UK 4 148781263 148781263 single base substitution G A downstream_gene_variant ESAD-UK 4 148781263 148781263 single base substitution G A intron_variant ESAD-UK 4 148781263 148781263 single base substitution G A upstream_gene_variant ESAD-UK 4 148783056 148783056 single base substitution C A downstream_gene_variant ESAD-UK 4 148783056 148783056 single base substitution C A exon_variant ESAD-UK 4 148783056 148783056 single base substitution C A intron_variant ESAD-UK 4 148788106 148788106 single base substitution T C intron_variant ESAD-UK 4 148788114 148788114 single base substitution T C intron_variant ESAD-UK 4 148788354 148788354 single base substitution C T intron_variant ESAD-UK 4 148792563 148792563 single base substitution T C intron_variant ESAD-UK 4 148795186 148795187 deletion of <=200bp AC - intron_variant ESAD-UK 4 148795305 148795305 single base substitution C T intron_variant ESAD-UK 4 148796219 148796219 single base substitution G T exon_variant ESAD-UK 4 148796219 148796219 single base substitution G T missense_variant M250I 750G>T ESAD-UK 4 148796431 148796431 single base substitution C T intron_variant ESAD-UK 4 148797923 148797923 single base substitution C T intron_variant ESAD-UK 4 148798487 148798487 single base substitution C T intron_variant ESAD-UK 4 148798487 148798487 single base substitution C T upstream_gene_variant ESAD-UK 4 148799636 148799636 deletion of <=200bp T - intron_variant ESAD-UK 4 148799636 148799636 deletion of <=200bp T - upstream_gene_variant ESAD-UK 4 148802971 148802971 single base substitution C A intron_variant ESAD-UK 4 148802971 148802971 single base substitution C A upstream_gene_variant ESAD-UK 4 148803372 148803372 single base substitution G C intron_variant ESAD-UK 4 148805516 148805516 single base substitution T A intron_variant ESAD-UK 4 148805608 148805608 deletion of <=200bp A - intron_variant ESAD-UK 4 148806383 148806383 single base substitution C T intron_variant ESAD-UK 4 148806956 148806956 single base substitution C T intron_variant ESAD-UK 4 148807091 148807091 single base substitution T G intron_variant ESAD-UK 4 148809024 148809027 deletion of <=200bp AAAT - intron_variant ESAD-UK 4 148814216 148814216 single base substitution T C intron_variant ESAD-UK 4 148816524 148816524 single base substitution G T intron_variant ESAD-UK 4 148817388 148817388 single base substitution A C intron_variant ESAD-UK 4 148819106 148819106 single base substitution G A intron_variant ESAD-UK 4 148819149 148819149 single base substitution C T intron_variant ESAD-UK 4 148819851 148819851 single base substitution C G intron_variant ESAD-UK 4 148820091 148820091 single base substitution C T intron_variant ESAD-UK 4 148820460 148820460 insertion of <=200bp - GT intron_variant ESAD-UK 4 148820687 148820687 single base substitution C T intron_variant ESAD-UK 4 148827467 148827467 single base substitution A G intron_variant ESAD-UK 4 148827573 148827573 single base substitution C A intron_variant ESAD-UK 4 148830267 148830267 single base substitution C T intron_variant ESAD-UK 4 148830866 148830887 deletion of <=200bp CCATTCTCTTTTATTAGCTGTC - frameshift_variant ALS22 ESAD-UK 4 148830866 148830887 deletion of <=200bp CCATTCTCTTTTATTAGCTGTC - frameshift_variant ALS373 ESAD-UK 4 148830866 148830887 deletion of <=200bp CCATTCTCTTTTATTAGCTGTC - frameshift_variant ALS50 ESAD-UK 4 148830866 148830887 deletion of <=200bp CCATTCTCTTTTATTAGCTGTC - splice_acceptor_variant ESAD-UK 4 148830933 148830933 single base substitution G T splice_region_variant ESAD-UK 4 148832163 148832163 single base substitution C T intron_variant ESAD-UK 4 148835983 148835983 single base substitution C G intron_variant ESAD-UK 4 148836893 148836893 single base substitution T G intron_variant ESAD-UK 4 148837859 148837859 single base substitution A C intron_variant ESAD-UK 4 148839405 148839405 single base substitution G T intron_variant ESAD-UK 4 148840727 148840727 single base substitution T C intron_variant ESAD-UK 4 148840728 148840728 single base substitution C T intron_variant ESAD-UK 4 148841782 148841782 single base substitution G A intron_variant ESAD-UK 4 148843346 148843346 single base substitution G A intron_variant ESAD-UK 4 148843432 148843432 single base substitution G T intron_variant ESAD-UK 4 148844121 148844121 single base substitution C A intron_variant ESAD-UK 4 148844454 148844454 single base substitution A C intron_variant ESAD-UK 4 148852467 148852467 single base substitution A G intron_variant ESAD-UK 4 148855281 148855281 single base substitution A G intron_variant ESAD-UK 4 148860032 148860034 deletion of <=200bp ATT - intron_variant ESAD-UK 4 148860762 148860762 single base substitution G A intron_variant ESAD-UK 4 148861517 148861517 single base substitution C A intron_variant ESAD-UK 4 148863198 148863198 single base substitution T G intron_variant ESAD-UK 4 148863198 148863198 single base substitution T G upstream_gene_variant ESAD-UK 4 148865136 148865136 single base substitution G A intron_variant ESAD-UK 4 148865136 148865136 single base substitution G A upstream_gene_variant ESAD-UK 4 148866999 148866999 single base substitution T A intron_variant ESAD-UK 4 148866999 148866999 single base substitution T A upstream_gene_variant ESAD-UK 4 148868407 148868407 single base substitution G T intron_variant ESAD-UK 4 148869876 148869876 single base substitution G T intron_variant ESAD-UK 4 148870534 148870534 single base substitution T C intron_variant ESAD-UK 4 148871871 148871871 single base substitution C A intron_variant ESAD-UK 4 148872116 148872116 single base substitution C T intron_variant ESAD-UK 4 148872277 148872277 single base substitution T C intron_variant ESAD-UK 4 148872326 148872326 single base substitution C A intron_variant ESAD-UK 4 148873821 148873821 single base substitution T A intron_variant ESAD-UK 4 148874386 148874386 single base substitution C A intron_variant ESAD-UK 4 148874387 148874387 single base substitution T A intron_variant ESAD-UK 4 148876380 148876380 single base substitution T C intron_variant ESAD-UK 4 148876628 148876628 single base substitution T A intron_variant ESAD-UK 4 148877095 148877095 single base substitution A T intron_variant ESAD-UK 4 148878583 148878583 single base substitution G C intron_variant ESAD-UK 4 148879657 148879657 single base substitution C G intron_variant ESAD-UK 4 148879878 148879878 single base substitution T C intron_variant ESAD-UK 4 148881819 148881819 single base substitution G A intron_variant ESAD-UK 4 148884172 148884172 insertion of <=200bp - T intron_variant ESAD-UK 4 148884667 148884667 single base substitution T A intron_variant ESAD-UK 4 148890083 148890083 single base substitution C T intron_variant ESAD-UK 4 148892646 148892646 single base substitution C T intron_variant ESAD-UK 4 148893635 148893635 single base substitution T A intron_variant ESAD-UK 4 148893717 148893717 single base substitution G T intron_variant ESAD-UK 4 148894986 148894986 single base substitution C T intron_variant ESAD-UK 4 148895026 148895026 insertion of <=200bp - T intron_variant ESAD-UK 4 148896943 148896943 single base substitution G A intron_variant ESAD-UK 4 148897052 148897052 single base substitution A T intron_variant ESAD-UK 4 148901059 148901059 single base substitution A T intron_variant ESAD-UK 4 148901955 148901955 single base substitution T G intron_variant ESAD-UK 4 148902973 148902973 deletion of <=200bp T - intron_variant ESAD-UK 4 148905362 148905362 single base substitution G A intron_variant ESAD-UK 4 148905417 148905417 single base substitution G A intron_variant ESAD-UK 4 148905688 148905688 single base substitution T G intron_variant ESAD-UK 4 148906248 148906248 single base substitution C T intron_variant ESAD-UK 4 148907108 148907108 single base substitution C T intron_variant ESAD-UK 4 148908667 148908667 single base substitution A T intron_variant ESAD-UK 4 148909859 148909859 single base substitution C T intron_variant ESAD-UK 4 148916247 148916247 single base substitution T C intron_variant ESAD-UK 4 148918606 148918606 single base substitution A C intron_variant ESAD-UK 4 148921750 148921750 single base substitution C A intron_variant ESAD-UK 4 148923392 148923392 single base substitution C G intron_variant ESAD-UK 4 148924636 148924636 single base substitution T G intron_variant ESAD-UK 4 148924891 148924891 insertion of <=200bp - T intron_variant ESAD-UK 4 148924903 148924903 single base substitution C T intron_variant ESAD-UK 4 148925090 148925090 single base substitution G A intron_variant ESAD-UK 4 148925867 148925867 single base substitution A G intron_variant ESAD-UK 4 148926951 148926951 single base substitution A C intron_variant ESAD-UK 4 148927128 148927128 single base substitution T A intron_variant ESAD-UK 4 148927436 148927436 single base substitution C T intron_variant ESAD-UK 4 148928622 148928622 single base substitution C T intron_variant ESAD-UK 4 148931350 148931350 single base substitution T G intron_variant ESAD-UK 4 148931377 148931377 single base substitution T G intron_variant ESAD-UK 4 148931960 148931961 deletion of <=200bp TG - intron_variant ESAD-UK 4 148932009 148932009 single base substitution T G intron_variant ESAD-UK 4 148932644 148932644 single base substitution A T intron_variant ESAD-UK 4 148936849 148936849 single base substitution A G intron_variant ESAD-UK 4 148937134 148937134 single base substitution G C intron_variant ESAD-UK 4 148938116 148938116 single base substitution G T intron_variant ESAD-UK 4 148938176 148938176 single base substitution C G intron_variant ESAD-UK 4 148940872 148940872 single base substitution C T intron_variant ESAD-UK 4 148940872 148940872 single base substitution C T upstream_gene_variant ESAD-UK 4 148942674 148942674 insertion of <=200bp - ATATT intron_variant ESAD-UK 4 148942674 148942674 insertion of <=200bp - ATATT upstream_gene_variant ESAD-UK 4 148942699 148942699 single base substitution G C intron_variant ESAD-UK 4 148942699 148942699 single base substitution G C upstream_gene_variant ESAD-UK 4 148945002 148945002 single base substitution G A intron_variant ESAD-UK 4 148945944 148945944 single base substitution A C intron_variant ESAD-UK 4 148946898 148946898 single base substitution T A intron_variant ESAD-UK 4 148946984 148946984 single base substitution G T intron_variant ESAD-UK 4 148947405 148947405 single base substitution T G intron_variant ESAD-UK 4 148948621 148948621 single base substitution G C intron_variant ESAD-UK 4 148949048 148949048 deletion of <=200bp T - intron_variant ESAD-UK 4 148949452 148949452 single base substitution G A intron_variant ESAD-UK 4 148949749 148949749 single base substitution G A intron_variant ESAD-UK 4 148949910 148949910 single base substitution T A intron_variant ESAD-UK 4 148951900 148951900 single base substitution T G intron_variant ESAD-UK 4 148952187 148952187 single base substitution G A intron_variant ESAD-UK 4 148952238 148952238 single base substitution G C intron_variant ESAD-UK 4 148952714 148952714 single base substitution T G intron_variant ESAD-UK 4 148953543 148953543 single base substitution C A intron_variant ESAD-UK 4 148958928 148958928 single base substitution G A intron_variant ESAD-UK 4 148960061 148960061 insertion of <=200bp - T intron_variant ESAD-UK 4 148961966 148961966 insertion of <=200bp - G intron_variant ESAD-UK 4 148962290 148962290 single base substitution C A intron_variant ESAD-UK 4 148963079 148963079 single base substitution G A intron_variant ESAD-UK 4 148965591 148965591 single base substitution T G intron_variant ESAD-UK 4 148969759 148969759 single base substitution C T intron_variant ESAD-UK 4 148970652 148970652 single base substitution T G intron_variant ESAD-UK 4 148972244 148972244 single base substitution C T intron_variant ESAD-UK 4 148973755 148973755 single base substitution G T intron_variant ESAD-UK 4 148974346 148974346 single base substitution T G intron_variant ESAD-UK 4 148974841 148974841 single base substitution T C intron_variant ESAD-UK 4 148975627 148975627 single base substitution A C intron_variant ESAD-UK 4 148975812 148975812 single base substitution T C intron_variant ESAD-UK 4 148975907 148975907 single base substitution G C intron_variant ESAD-UK 4 148976567 148976567 single base substitution C T intron_variant ESAD-UK 4 148976622 148976622 single base substitution T G intron_variant ESAD-UK 4 148977529 148977529 single base substitution T A intron_variant ESAD-UK 4 148977835 148977835 single base substitution T C intron_variant ESAD-UK 4 148978996 148978996 single base substitution G A intron_variant ESAD-UK 4 148979483 148979483 single base substitution G A intron_variant ESAD-UK 4 148982859 148982859 single base substitution T C intron_variant ESAD-UK 4 148982859 148982859 single base substitution T C upstream_gene_variant ESAD-UK 4 148982901 148982901 single base substitution G A intron_variant ESAD-UK 4 148982901 148982901 single base substitution G A upstream_gene_variant ESAD-UK 4 148984333 148984333 single base substitution C T exon_variant ESAD-UK 4 148984333 148984333 single base substitution C T intron_variant ESAD-UK 4 148984333 148984333 single base substitution C T missense_variant L688F 2062C>T ESAD-UK 4 148984333 148984333 single base substitution C T upstream_gene_variant ESAD-UK 4 148985169 148985169 single base substitution C T downstream_gene_variant ESAD-UK 4 148985169 148985169 single base substitution C T intron_variant ESAD-UK 4 148985169 148985169 single base substitution C T upstream_gene_variant ESAD-UK 4 148985509 148985509 single base substitution A C downstream_gene_variant ESAD-UK 4 148985509 148985509 single base substitution A C intron_variant ESAD-UK 4 148985509 148985509 single base substitution A C upstream_gene_variant ESAD-UK 4 148987401 148987401 single base substitution T G downstream_gene_variant ESAD-UK 4 148987401 148987401 single base substitution T G intron_variant ESAD-UK 4 148987559 148987559 single base substitution G A downstream_gene_variant ESAD-UK 4 148987559 148987559 single base substitution G A intron_variant ESAD-UK 4 148987699 148987699 single base substitution G A downstream_gene_variant ESAD-UK 4 148987699 148987699 single base substitution G A intron_variant ESAD-UK 4 148988885 148988885 single base substitution G A downstream_gene_variant ESAD-UK 4 148988885 148988885 single base substitution G A intron_variant ESAD-UK 4 148989718 148989718 single base substitution T C intron_variant ESAD-UK 4 148992793 148992793 insertion of <=200bp - C intron_variant ESAD-UK 4 148993707 148993707 single base substitution G C 3_prime_UTR_variant ESAD-UK 4 148993707 148993707 single base substitution G C downstream_gene_variant ESAD-UK 4 148993707 148993707 single base substitution G C exon_variant ESAD-UK 4 148994427 148994427 single base substitution C T downstream_gene_variant ESAD-UK 4 148994701 148994701 single base substitution T C downstream_gene_variant ESAD-UK 4 148994736 148994736 single base substitution G A downstream_gene_variant ESAD-UK 4 148998716 148998716 single base substitution G A downstream_gene_variant ESCA-CN 4 148827697 148827697 insertion of <=200bp - A intron_variant ESCA-CN 4 148984312 148984312 single base substitution C T exon_variant ESCA-CN 4 148984312 148984312 single base substitution C T intron_variant ESCA-CN 4 148984312 148984312 single base substitution C T stop_gained R681* 2041C>T ESCA-CN 4 148984312 148984312 single base substitution C T upstream_gene_variant GBM-US 4 148944421 148944421 single base substitution G A exon_variant GBM-US 4 148944421 148944421 single base substitution G A missense_variant R224Q 671G>A GBM-US 4 148944421 148944421 single base substitution G A missense_variant R252Q 755G>A GBM-US 4 148944421 148944421 single base substitution G A missense_variant R575Q 1724G>A KIRC-US 4 148861016 148861016 single base substitution T A exon_variant KIRC-US 4 148861016 148861016 single base substitution T A missense_variant S100R 300T>A KIRC-US 4 148861016 148861016 single base substitution T A missense_variant S423R 1269T>A KIRC-US 4 148861016 148861016 single base substitution T A missense_variant S72R 216T>A KIRC-US 4 148861022 148861022 single base substitution G C exon_variant KIRC-US 4 148861022 148861022 single base substitution G C missense_variant K102N 306G>C KIRC-US 4 148861022 148861022 single base substitution G C missense_variant K425N 1275G>C KIRC-US 4 148861022 148861022 single base substitution G C missense_variant K74N 222G>C LAML-KR 4 148674256 148674256 single base substitution A G intron_variant LAML-KR 4 148789406 148789406 single base substitution G T intron_variant LAML-KR 4 148840727 148840727 single base substitution T C intron_variant LAML-KR 4 148840728 148840728 single base substitution C T intron_variant LAML-KR 4 148910175 148910175 single base substitution C T intron_variant LAML-KR 4 148910190 148910190 single base substitution T C intron_variant LAML-KR 4 148910329 148910329 single base substitution G T intron_variant LAML-KR 4 148918657 148918657 single base substitution G A intron_variant LAML-KR 4 148981146 148981146 single base substitution G A intron_variant LAML-KR 4 148995138 148995138 single base substitution C T downstream_gene_variant LICA-CN 4 148968138 148968138 single base substitution C T exon_variant LICA-CN 4 148968138 148968138 single base substitution C T missense_variant P304S 910C>T LICA-CN 4 148968138 148968138 single base substitution C T missense_variant P332S 994C>T LICA-CN 4 148968138 148968138 single base substitution C T missense_variant P655S 1963C>T LICA-FR 4 148657817 148657817 single base substitution G A intron_variant LICA-FR 4 148676527 148676527 single base substitution C A intron_variant LICA-FR 4 148707641 148707641 single base substitution A G intron_variant LICA-FR 4 148708413 148708413 single base substitution G T intron_variant LICA-FR 4 148729477 148729477 insertion of <=200bp - T intron_variant LICA-FR 4 148737254 148737254 single base substitution T A intron_variant LICA-FR 4 148739717 148739717 deletion of <=200bp A - intron_variant LICA-FR 4 148740543 148740543 single base substitution C T intron_variant LICA-FR 4 148744095 148744095 single base substitution A G exon_variant LICA-FR 4 148744095 148744095 single base substitution A G missense_variant Q100R 299A>G LICA-FR 4 148744695 148744695 single base substitution G C intron_variant LICA-FR 4 148750889 148750889 single base substitution G T intron_variant LICA-FR 4 148753508 148753508 deletion of <=200bp A - intron_variant LICA-FR 4 148756034 148756034 single base substitution G A intron_variant LICA-FR 4 148757976 148757976 single base substitution T C intron_variant LICA-FR 4 148757987 148757987 insertion of <=200bp - T intron_variant LICA-FR 4 148763843 148763843 single base substitution G A intron_variant LICA-FR 4 148765108 148765108 single base substitution A G intron_variant LICA-FR 4 148778582 148778582 single base substitution A G intron_variant LICA-FR 4 148778582 148778582 single base substitution A G upstream_gene_variant LICA-FR 4 148782546 148782546 single base substitution G T downstream_gene_variant LICA-FR 4 148782546 148782546 single base substitution G T exon_variant LICA-FR 4 148782546 148782546 single base substitution G T intron_variant LICA-FR 4 148790734 148790734 insertion of <=200bp - A intron_variant LICA-FR 4 148791155 148791155 single base substitution G C intron_variant LICA-FR 4 148815435 148815435 single base substitution T A intron_variant LICA-FR 4 148833536 148833536 single base substitution G A intron_variant LICA-FR 4 148870716 148870716 single base substitution A C intron_variant LICA-FR 4 148886278 148886278 single base substitution A G splice_region_variant LICA-FR 4 148887833 148887833 single base substitution T A missense_variant V169D 506T>A LICA-FR 4 148887833 148887833 single base substitution T A missense_variant V197D 590T>A LICA-FR 4 148887833 148887833 single base substitution T A missense_variant V520D 1559T>A LICA-FR 4 148887833 148887833 single base substitution T A splice_region_variant LICA-FR 4 148900864 148900864 single base substitution G T intron_variant LICA-FR 4 148909961 148909961 single base substitution C A intron_variant LICA-FR 4 148910329 148910329 single base substitution G T intron_variant LICA-FR 4 148910405 148910405 single base substitution C A intron_variant LICA-FR 4 148940919 148940919 single base substitution A C intron_variant LICA-FR 4 148940919 148940919 single base substitution A C upstream_gene_variant LICA-FR 4 148956555 148956555 single base substitution G A intron_variant LICA-FR 4 148973043 148973043 single base substitution A G intron_variant LICA-FR 4 148983607 148983607 single base substitution A G intron_variant LICA-FR 4 148983607 148983607 single base substitution A G upstream_gene_variant LICA-FR 4 148988721 148988721 single base substitution G A downstream_gene_variant LICA-FR 4 148988721 148988721 single base substitution G A intron_variant LICA-FR 4 148995024 148995024 single base substitution T C downstream_gene_variant LIHC-US 4 148778702 148778702 single base substitution A G splice_acceptor_variant LIHC-US 4 148778702 148778702 single base substitution A G upstream_gene_variant LIHC-US 4 148802995 148802995 single base substitution G T exon_variant LIHC-US 4 148802995 148802995 single base substitution G T stop_gained G316* 946G>T LIHC-US 4 148802995 148802995 single base substitution G T upstream_gene_variant LIHC-US 4 148886196 148886196 single base substitution G A exon_variant LIHC-US 4 148886196 148886196 single base substitution G A missense_variant R140H 419G>A LIHC-US 4 148886196 148886196 single base substitution G A missense_variant R168H 503G>A LIHC-US 4 148886196 148886196 single base substitution G A missense_variant R491H 1472G>A LIHC-US 4 148984403 148984403 single base substitution C A exon_variant LIHC-US 4 148984403 148984403 single base substitution C A intron_variant LIHC-US 4 148984403 148984403 single base substitution C A missense_variant P711H 2132C>A LIHC-US 4 148984403 148984403 single base substitution C A upstream_gene_variant LINC-JP 4 148653411 148653411 single base substitution G C 5_prime_UTR_variant LINC-JP 4 148653411 148653411 single base substitution G C exon_variant LINC-JP 4 148653483 148653483 single base substitution T A exon_variant LINC-JP 4 148653483 148653483 single base substitution T A missense_variant C11S 31T>A LINC-JP 4 148654278 148654278 single base substitution G C intron_variant LINC-JP 4 148654279 148654279 single base substitution C T intron_variant LINC-JP 4 148655456 148655456 single base substitution C A intron_variant LINC-JP 4 148657052 148657052 single base substitution T C intron_variant LINC-JP 4 148677140 148677140 deletion of <=200bp T - intron_variant LINC-JP 4 148678519 148678519 single base substitution T C intron_variant LINC-JP 4 148685637 148685637 deletion of <=200bp A - intron_variant LINC-JP 4 148717946 148717946 single base substitution G T intron_variant LINC-JP 4 148720985 148720985 single base substitution T G intron_variant LINC-JP 4 148725162 148725162 single base substitution C T intron_variant LINC-JP 4 148725756 148725756 single base substitution G A intron_variant LINC-JP 4 148727954 148727954 single base substitution G A intron_variant LINC-JP 4 148732741 148732741 single base substitution T A intron_variant LINC-JP 4 148745120 148745120 single base substitution T A intron_variant LINC-JP 4 148758794 148758794 single base substitution G T intron_variant LINC-JP 4 148770745 148770745 single base substitution A T intron_variant LINC-JP 4 148773078 148773078 single base substitution C T intron_variant LINC-JP 4 148778733 148778733 single base substitution A G exon_variant LINC-JP 4 148778733 148778733 single base substitution A G synonymous_variant T138T 414A>G LINC-JP 4 148778733 148778733 single base substitution A G upstream_gene_variant LINC-JP 4 148786040 148786040 single base substitution T C exon_variant LINC-JP 4 148786040 148786040 single base substitution T C missense_variant L177P 530T>C LINC-JP 4 148788112 148788112 single base substitution A C intron_variant LINC-JP 4 148788114 148788114 single base substitution T G intron_variant LINC-JP 4 148794595 148794595 single base substitution G T intron_variant LINC-JP 4 148802988 148802988 single base substitution G A splice_acceptor_variant LINC-JP 4 148802988 148802988 single base substitution G A upstream_gene_variant LINC-JP 4 148806860 148806860 single base substitution G T intron_variant LINC-JP 4 148813745 148813745 single base substitution G A intron_variant LINC-JP 4 148817332 148817332 single base substitution T G intron_variant LINC-JP 4 148818549 148818549 single base substitution C T intron_variant LINC-JP 4 148818788 148818788 single base substitution A C intron_variant LINC-JP 4 148828655 148828655 deletion of <=200bp A - intron_variant LINC-JP 4 148841274 148841278 deletion of <=200bp ACAAC - intron_variant LINC-JP 4 148847876 148847876 single base substitution T A intron_variant LINC-JP 4 148863654 148863654 single base substitution T C intron_variant LINC-JP 4 148863654 148863654 single base substitution T C upstream_gene_variant LINC-JP 4 148868182 148868182 single base substitution T C intron_variant LINC-JP 4 148875157 148875157 single base substitution A T intron_variant LINC-JP 4 148880635 148880635 single base substitution A T intron_variant LINC-JP 4 148887643 148887643 single base substitution A G intron_variant LINC-JP 4 148911816 148911816 single base substitution C T intron_variant LINC-JP 4 148921078 148921078 deletion of <=200bp T - intron_variant LINC-JP 4 148931595 148931595 single base substitution C A intron_variant LINC-JP 4 148949215 148949215 single base substitution T G intron_variant LINC-JP 4 148956816 148956816 single base substitution A T intron_variant LINC-JP 4 148964816 148964816 single base substitution A T intron_variant LINC-JP 4 148964822 148964822 single base substitution G T intron_variant LINC-JP 4 148998780 148998780 single base substitution C A downstream_gene_variant LIRI-JP 4 148649209 148649209 single base substitution T C upstream_gene_variant LIRI-JP 4 148650173 148650173 single base substitution A T upstream_gene_variant LIRI-JP 4 148650239 148650239 single base substitution T C upstream_gene_variant LIRI-JP 4 148651258 148651258 single base substitution G T upstream_gene_variant LIRI-JP 4 148651512 148651512 single base substitution G T upstream_gene_variant LIRI-JP 4 148651513 148651513 single base substitution G T upstream_gene_variant LIRI-JP 4 148652311 148652311 single base substitution C T upstream_gene_variant LIRI-JP 4 148652946 148652946 single base substitution C T upstream_gene_variant LIRI-JP 4 148654550 148654550 single base substitution G A intron_variant LIRI-JP 4 148657914 148657914 single base substitution G C intron_variant LIRI-JP 4 148658583 148658583 single base substitution G A intron_variant LIRI-JP 4 148661446 148661446 single base substitution G T intron_variant LIRI-JP 4 148661911 148661911 single base substitution G T intron_variant LIRI-JP 4 148662800 148662800 single base substitution T A intron_variant LIRI-JP 4 148663218 148663218 single base substitution A T intron_variant LIRI-JP 4 148664483 148664483 single base substitution A G intron_variant LIRI-JP 4 148664511 148664511 deletion of <=200bp G - intron_variant LIRI-JP 4 148665738 148665738 single base substitution T C intron_variant LIRI-JP 4 148669328 148669328 single base substitution A T intron_variant LIRI-JP 4 148670288 148670288 deletion of <=200bp T - intron_variant LIRI-JP 4 148670400 148670400 single base substitution G A intron_variant LIRI-JP 4 148670463 148670463 single base substitution A G intron_variant LIRI-JP 4 148670876 148670876 single base substitution A G intron_variant LIRI-JP 4 148671234 148671234 single base substitution A G intron_variant LIRI-JP 4 148672196 148672196 single base substitution G T intron_variant LIRI-JP 4 148672983 148672983 single base substitution T C intron_variant LIRI-JP 4 148672996 148672996 single base substitution T C intron_variant LIRI-JP 4 148674649 148674649 single base substitution C T intron_variant LIRI-JP 4 148675717 148675717 single base substitution T C intron_variant LIRI-JP 4 148676652 148676652 single base substitution C G intron_variant LIRI-JP 4 148678263 148678263 single base substitution A G intron_variant LIRI-JP 4 148678912 148678912 single base substitution C T intron_variant LIRI-JP 4 148679053 148679053 single base substitution C T intron_variant LIRI-JP 4 148682056 148682056 single base substitution T A intron_variant LIRI-JP 4 148682788 148682788 single base substitution T A intron_variant LIRI-JP 4 148683154 148683154 single base substitution C A intron_variant LIRI-JP 4 148685282 148685282 single base substitution T C intron_variant LIRI-JP 4 148685348 148685348 single base substitution G A intron_variant LIRI-JP 4 148686694 148686694 single base substitution T C intron_variant LIRI-JP 4 148686967 148686967 single base substitution G A intron_variant LIRI-JP 4 148689016 148689016 single base substitution A G intron_variant LIRI-JP 4 148689291 148689291 single base substitution G A intron_variant LIRI-JP 4 148691602 148691602 single base substitution G T intron_variant LIRI-JP 4 148693529 148693529 single base substitution C G intron_variant LIRI-JP 4 148694716 148694716 single base substitution G T intron_variant LIRI-JP 4 148696200 148696200 single base substitution G A intron_variant LIRI-JP 4 148697690 148697690 single base substitution A G intron_variant LIRI-JP 4 148699392 148699392 single base substitution C A intron_variant LIRI-JP 4 148700127 148700127 single base substitution G A intron_variant LIRI-JP 4 148700234 148700234 single base substitution C A intron_variant LIRI-JP 4 148700554 148700554 single base substitution A T intron_variant LIRI-JP 4 148701067 148701067 single base substitution C A intron_variant LIRI-JP 4 148701077 148701077 single base substitution T C intron_variant LIRI-JP 4 148702288 148702288 single base substitution T A intron_variant LIRI-JP 4 148702737 148702737 single base substitution T A intron_variant LIRI-JP 4 148703574 148703574 single base substitution A G intron_variant LIRI-JP 4 148703991 148703991 single base substitution C A intron_variant LIRI-JP 4 148708009 148708009 single base substitution A G intron_variant LIRI-JP 4 148708537 148708537 single base substitution G T intron_variant LIRI-JP 4 148709620 148709620 single base substitution C A intron_variant LIRI-JP 4 148713186 148713186 single base substitution C T intron_variant LIRI-JP 4 148714123 148714123 single base substitution C T intron_variant LIRI-JP 4 148715297 148715297 single base substitution A G intron_variant LIRI-JP 4 148717027 148717027 single base substitution G A intron_variant LIRI-JP 4 148719025 148719025 single base substitution G T intron_variant LIRI-JP 4 148720114 148720114 single base substitution G A intron_variant LIRI-JP 4 148721136 148721136 single base substitution G T intron_variant LIRI-JP 4 148722004 148722004 single base substitution C A intron_variant LIRI-JP 4 148722770 148722770 single base substitution C T intron_variant LIRI-JP 4 148723372 148723372 single base substitution A G intron_variant LIRI-JP 4 148723706 148723706 single base substitution C A intron_variant LIRI-JP 4 148723834 148723834 single base substitution G T intron_variant LIRI-JP 4 148724349 148724349 single base substitution G A intron_variant LIRI-JP 4 148725415 148725415 single base substitution A G intron_variant LIRI-JP 4 148725662 148725662 single base substitution T A intron_variant LIRI-JP 4 148725753 148725753 single base substitution T C intron_variant LIRI-JP 4 148725781 148725781 single base substitution C T intron_variant LIRI-JP 4 148726291 148726291 single base substitution T A intron_variant LIRI-JP 4 148727584 148727584 single base substitution A C intron_variant LIRI-JP 4 148728374 148728374 single base substitution T C intron_variant LIRI-JP 4 148728742 148728742 single base substitution A C intron_variant LIRI-JP 4 148729144 148729144 single base substitution T C intron_variant LIRI-JP 4 148731002 148731002 single base substitution C A intron_variant LIRI-JP 4 148732483 148732483 single base substitution A G intron_variant LIRI-JP 4 148734060 148734060 single base substitution C T intron_variant LIRI-JP 4 148734125 148734125 single base substitution C A intron_variant LIRI-JP 4 148734982 148734982 single base substitution T C intron_variant LIRI-JP 4 148735216 148735216 single base substitution C A intron_variant LIRI-JP 4 148737036 148737036 single base substitution C G intron_variant LIRI-JP 4 148737781 148737781 single base substitution G A intron_variant LIRI-JP 4 148738498 148738498 single base substitution C G intron_variant LIRI-JP 4 148739394 148739394 single base substitution A G intron_variant LIRI-JP 4 148741384 148741384 single base substitution T A intron_variant LIRI-JP 4 148742626 148742626 single base substitution G T intron_variant LIRI-JP 4 148743295 148743295 single base substitution T C intron_variant LIRI-JP 4 148743479 148743479 single base substitution A T intron_variant LIRI-JP 4 148743826 148743826 single base substitution A G intron_variant LIRI-JP 4 148748041 148748041 single base substitution C A intron_variant LIRI-JP 4 148750660 148750660 single base substitution G C intron_variant LIRI-JP 4 148753237 148753237 single base substitution C T intron_variant LIRI-JP 4 148753289 148753289 single base substitution G A intron_variant LIRI-JP 4 148753702 148753702 single base substitution G T intron_variant LIRI-JP 4 148754784 148754784 single base substitution T C intron_variant LIRI-JP 4 148757859 148757860 deletion of <=200bp AA - intron_variant LIRI-JP 4 148757897 148757897 single base substitution G T intron_variant LIRI-JP 4 148758342 148758342 single base substitution G A intron_variant LIRI-JP 4 148759378 148759378 single base substitution A G intron_variant LIRI-JP 4 148759413 148759413 single base substitution T A intron_variant LIRI-JP 4 148759678 148759679 deletion of <=200bp CC - intron_variant LIRI-JP 4 148759757 148759757 single base substitution T C intron_variant LIRI-JP 4 148761407 148761407 single base substitution G A intron_variant LIRI-JP 4 148762790 148762790 single base substitution T G intron_variant LIRI-JP 4 148763074 148763074 single base substitution C T intron_variant LIRI-JP 4 148763197 148763197 single base substitution G T intron_variant LIRI-JP 4 148763676 148763676 single base substitution T C intron_variant LIRI-JP 4 148767138 148767138 single base substitution T C intron_variant LIRI-JP 4 148767730 148767730 single base substitution A G intron_variant LIRI-JP 4 148767956 148767956 single base substitution G T intron_variant LIRI-JP 4 148769599 148769599 single base substitution T A intron_variant LIRI-JP 4 148771537 148771537 single base substitution G A intron_variant LIRI-JP 4 148772425 148772425 single base substitution A T intron_variant LIRI-JP 4 148772470 148772470 single base substitution C A intron_variant LIRI-JP 4 148773624 148773624 single base substitution A T intron_variant LIRI-JP 4 148774443 148774443 single base substitution C G intron_variant LIRI-JP 4 148775140 148775140 single base substitution A G intron_variant LIRI-JP 4 148775147 148775147 single base substitution T A intron_variant LIRI-JP 4 148776185 148776185 single base substitution T G intron_variant LIRI-JP 4 148778067 148778067 single base substitution G A intron_variant LIRI-JP 4 148778067 148778067 single base substitution G A upstream_gene_variant LIRI-JP 4 148778088 148778088 single base substitution C T intron_variant LIRI-JP 4 148778088 148778088 single base substitution C T upstream_gene_variant LIRI-JP 4 148778205 148778205 single base substitution C T intron_variant LIRI-JP 4 148778205 148778205 single base substitution C T upstream_gene_variant LIRI-JP 4 148778697 148778697 single base substitution T A intron_variant LIRI-JP 4 148778697 148778697 single base substitution T A splice_region_variant LIRI-JP 4 148778697 148778697 single base substitution T A upstream_gene_variant LIRI-JP 4 148778859 148778859 single base substitution T C exon_variant LIRI-JP 4 148778859 148778859 single base substitution T C intron_variant LIRI-JP 4 148778859 148778859 single base substitution T C upstream_gene_variant LIRI-JP 4 148778861 148778861 deletion of <=200bp T - exon_variant LIRI-JP 4 148778861 148778861 deletion of <=200bp T - intron_variant LIRI-JP 4 148778861 148778861 deletion of <=200bp T - upstream_gene_variant LIRI-JP 4 148779853 148779853 single base substitution T C downstream_gene_variant LIRI-JP 4 148779853 148779853 single base substitution T C intron_variant LIRI-JP 4 148779853 148779853 single base substitution T C upstream_gene_variant LIRI-JP 4 148783256 148783256 single base substitution C T downstream_gene_variant LIRI-JP 4 148783256 148783256 single base substitution C T exon_variant LIRI-JP 4 148783256 148783256 single base substitution C T intron_variant LIRI-JP 4 148785915 148785915 single base substitution G T exon_variant LIRI-JP 4 148785915 148785915 single base substitution G T intron_variant LIRI-JP 4 148786008 148786008 single base substitution A C exon_variant LIRI-JP 4 148786008 148786008 single base substitution A C missense_variant Q166H 498A>C LIRI-JP 4 148787541 148787541 single base substitution A G exon_variant LIRI-JP 4 148787541 148787541 single base substitution A G intron_variant LIRI-JP 4 148789116 148789116 single base substitution G A intron_variant LIRI-JP 4 148789867 148789867 single base substitution T G intron_variant LIRI-JP 4 148790110 148790110 single base substitution T G intron_variant LIRI-JP 4 148791695 148791695 single base substitution A G intron_variant LIRI-JP 4 148793175 148793175 single base substitution C A intron_variant LIRI-JP 4 148794512 148794512 single base substitution T C intron_variant LIRI-JP 4 148795559 148795559 single base substitution A C intron_variant LIRI-JP 4 148795638 148795638 insertion of <=200bp - A intron_variant LIRI-JP 4 148796182 148796182 single base substitution G A exon_variant LIRI-JP 4 148796182 148796182 single base substitution G A missense_variant R238Q 713G>A LIRI-JP 4 148797959 148797959 single base substitution G C intron_variant LIRI-JP 4 148798326 148798326 single base substitution A C intron_variant LIRI-JP 4 148798326 148798326 single base substitution A C upstream_gene_variant LIRI-JP 4 148799449 148799449 single base substitution C T intron_variant LIRI-JP 4 148799449 148799449 single base substitution C T upstream_gene_variant LIRI-JP 4 148799798 148799798 single base substitution G A intron_variant LIRI-JP 4 148799798 148799798 single base substitution G A upstream_gene_variant LIRI-JP 4 148800545 148800545 single base substitution G A intron_variant LIRI-JP 4 148800545 148800545 single base substitution G A upstream_gene_variant LIRI-JP 4 148800593 148800593 single base substitution G A intron_variant LIRI-JP 4 148800593 148800593 single base substitution G A upstream_gene_variant LIRI-JP 4 148802994 148802994 single base substitution C G exon_variant LIRI-JP 4 148802994 148802994 single base substitution C G missense_variant D315E 945C>G LIRI-JP 4 148802994 148802994 single base substitution C G upstream_gene_variant LIRI-JP 4 148803389 148803389 single base substitution A G intron_variant LIRI-JP 4 148804594 148804594 single base substitution C T intron_variant LIRI-JP 4 148806824 148806824 single base substitution C T intron_variant LIRI-JP 4 148807052 148807052 single base substitution C T intron_variant LIRI-JP 4 148807883 148807883 single base substitution G A intron_variant LIRI-JP 4 148808217 148808217 single base substitution T A intron_variant LIRI-JP 4 148809463 148809463 single base substitution T C intron_variant LIRI-JP 4 148810120 148810120 single base substitution A T intron_variant LIRI-JP 4 148811330 148811330 single base substitution T C intron_variant LIRI-JP 4 148811742 148811742 single base substitution C A intron_variant LIRI-JP 4 148812674 148812674 single base substitution A G intron_variant LIRI-JP 4 148814638 148814638 single base substitution A G intron_variant LIRI-JP 4 148814675 148814675 single base substitution A T intron_variant LIRI-JP 4 148815621 148815621 single base substitution A G intron_variant LIRI-JP 4 148815685 148815685 single base substitution A G intron_variant LIRI-JP 4 148817795 148817795 single base substitution T A intron_variant LIRI-JP 4 148819088 148819088 single base substitution T A intron_variant LIRI-JP 4 148820069 148820069 single base substitution G C intron_variant LIRI-JP 4 148820168 148820168 single base substitution C A intron_variant LIRI-JP 4 148820581 148820581 single base substitution A G intron_variant LIRI-JP 4 148820733 148820733 single base substitution T C intron_variant LIRI-JP 4 148822517 148822517 single base substitution A G intron_variant LIRI-JP 4 148826293 148826293 single base substitution A G intron_variant LIRI-JP 4 148827458 148827458 single base substitution T C intron_variant LIRI-JP 4 148828377 148828377 single base substitution A C intron_variant LIRI-JP 4 148828384 148828384 single base substitution A C intron_variant LIRI-JP 4 148828391 148828391 single base substitution G T intron_variant LIRI-JP 4 148829453 148829453 single base substitution A G intron_variant LIRI-JP 4 148830528 148830528 single base substitution A T intron_variant LIRI-JP 4 148830554 148830554 single base substitution T C intron_variant LIRI-JP 4 148830598 148830598 single base substitution T G intron_variant LIRI-JP 4 148831412 148831412 single base substitution G T intron_variant LIRI-JP 4 148831413 148831413 single base substitution A G intron_variant LIRI-JP 4 148832146 148832146 single base substitution C T intron_variant LIRI-JP 4 148834693 148834693 single base substitution C T intron_variant LIRI-JP 4 148835965 148835965 single base substitution A G intron_variant LIRI-JP 4 148837880 148837880 single base substitution T A intron_variant LIRI-JP 4 148838098 148838098 single base substitution C T intron_variant LIRI-JP 4 148841061 148841061 single base substitution C T intron_variant LIRI-JP 4 148841122 148841122 single base substitution G A intron_variant LIRI-JP 4 148841274 148841278 deletion of <=200bp ACAAC - intron_variant LIRI-JP 4 148843037 148843037 single base substitution T C intron_variant LIRI-JP 4 148844254 148844254 single base substitution G A intron_variant LIRI-JP 4 148845989 148845989 single base substitution T C intron_variant LIRI-JP 4 148846112 148846112 single base substitution A G intron_variant LIRI-JP 4 148847974 148847974 single base substitution T A intron_variant LIRI-JP 4 148849349 148849349 single base substitution T A intron_variant LIRI-JP 4 148849385 148849385 single base substitution C T intron_variant LIRI-JP 4 148851507 148851507 single base substitution A G intron_variant LIRI-JP 4 148852353 148852353 single base substitution T C intron_variant LIRI-JP 4 148854242 148854242 single base substitution T C intron_variant LIRI-JP 4 148856036 148856036 single base substitution A G intron_variant LIRI-JP 4 148857023 148857023 single base substitution G T intron_variant LIRI-JP 4 148857692 148857692 single base substitution G T intron_variant LIRI-JP 4 148857868 148857868 single base substitution G A intron_variant LIRI-JP 4 148858196 148858196 single base substitution C T intron_variant LIRI-JP 4 148859234 148859234 single base substitution C A intron_variant LIRI-JP 4 148859685 148859685 single base substitution A G intron_variant LIRI-JP 4 148861459 148861459 single base substitution A G intron_variant LIRI-JP 4 148862001 148862001 single base substitution A T intron_variant LIRI-JP 4 148862183 148862183 single base substitution C A intron_variant LIRI-JP 4 148864633 148864633 single base substitution A T intron_variant LIRI-JP 4 148864633 148864633 single base substitution A T upstream_gene_variant LIRI-JP 4 148866253 148866253 single base substitution C A intron_variant LIRI-JP 4 148866253 148866253 single base substitution C A upstream_gene_variant LIRI-JP 4 148866921 148866921 single base substitution C T intron_variant LIRI-JP 4 148866921 148866921 single base substitution C T upstream_gene_variant LIRI-JP 4 148867521 148867521 insertion of <=200bp - T exon_variant LIRI-JP 4 148867521 148867521 insertion of <=200bp - T intron_variant LIRI-JP 4 148867652 148867652 single base substitution A T exon_variant LIRI-JP 4 148867652 148867652 single base substitution A T intron_variant LIRI-JP 4 148869542 148869542 single base substitution G A intron_variant LIRI-JP 4 148871066 148871066 single base substitution T A intron_variant LIRI-JP 4 148871171 148871171 single base substitution A G intron_variant LIRI-JP 4 148872759 148872759 single base substitution T G intron_variant LIRI-JP 4 148872769 148872769 single base substitution A G intron_variant LIRI-JP 4 148874421 148874421 single base substitution A T intron_variant LIRI-JP 4 148874705 148874705 single base substitution T C intron_variant LIRI-JP 4 148875301 148875301 single base substitution C T intron_variant LIRI-JP 4 148876168 148876168 single base substitution A T intron_variant LIRI-JP 4 148876606 148876606 single base substitution C T intron_variant LIRI-JP 4 148876805 148876805 single base substitution A G intron_variant LIRI-JP 4 148878014 148878014 single base substitution T C intron_variant LIRI-JP 4 148878155 148878155 single base substitution A G intron_variant LIRI-JP 4 148878651 148878651 single base substitution G A intron_variant LIRI-JP 4 148881659 148881659 single base substitution G A intron_variant LIRI-JP 4 148883979 148883979 single base substitution A T intron_variant LIRI-JP 4 148884742 148884742 single base substitution C G intron_variant LIRI-JP 4 148886843 148886843 single base substitution A G intron_variant LIRI-JP 4 148887136 148887136 single base substitution A G intron_variant LIRI-JP 4 148889782 148889782 single base substitution G T intron_variant LIRI-JP 4 148892026 148892026 single base substitution G T intron_variant LIRI-JP 4 148892313 148892313 single base substitution C T intron_variant LIRI-JP 4 148893298 148893315 deletion of <=200bp TATGAGTGAATTTAGGGG - intron_variant LIRI-JP 4 148893968 148893968 single base substitution T C intron_variant LIRI-JP 4 148894239 148894239 deletion of <=200bp G - intron_variant LIRI-JP 4 148896046 148896046 single base substitution A C intron_variant LIRI-JP 4 148896090 148896090 single base substitution G A intron_variant LIRI-JP 4 148896781 148896781 single base substitution A C intron_variant LIRI-JP 4 148897377 148897377 single base substitution A T intron_variant LIRI-JP 4 148897790 148897790 single base substitution T C intron_variant LIRI-JP 4 148897868 148897868 single base substitution A G intron_variant LIRI-JP 4 148897910 148897910 single base substitution T C intron_variant LIRI-JP 4 148899398 148899398 single base substitution A C intron_variant LIRI-JP 4 148899749 148899749 single base substitution G A intron_variant LIRI-JP 4 148899895 148899895 single base substitution C T intron_variant LIRI-JP 4 148901330 148901330 single base substitution T C intron_variant LIRI-JP 4 148903304 148903304 single base substitution T C intron_variant LIRI-JP 4 148904269 148904269 single base substitution A C intron_variant LIRI-JP 4 148905147 148905147 single base substitution G A intron_variant LIRI-JP 4 148905176 148905176 single base substitution A T intron_variant LIRI-JP 4 148905445 148905445 single base substitution C T intron_variant LIRI-JP 4 148906222 148906222 single base substitution G T intron_variant LIRI-JP 4 148908028 148908028 single base substitution C G intron_variant LIRI-JP 4 148908319 148908319 single base substitution C A intron_variant LIRI-JP 4 148909906 148909906 single base substitution A G intron_variant LIRI-JP 4 148910151 148910151 single base substitution G T intron_variant LIRI-JP 4 148910184 148910184 single base substitution C T intron_variant LIRI-JP 4 148910918 148910918 single base substitution G A intron_variant LIRI-JP 4 148912391 148912391 single base substitution C T intron_variant LIRI-JP 4 148914479 148914479 single base substitution G A intron_variant LIRI-JP 4 148914621 148914621 single base substitution A G intron_variant LIRI-JP 4 148916171 148916171 single base substitution G T intron_variant LIRI-JP 4 148917372 148917372 single base substitution T C intron_variant LIRI-JP 4 148918539 148918539 single base substitution A G intron_variant LIRI-JP 4 148921660 148921660 single base substitution C G intron_variant LIRI-JP 4 148921863 148921863 single base substitution G A intron_variant LIRI-JP 4 148924227 148924227 single base substitution A G intron_variant LIRI-JP 4 148925235 148925235 single base substitution C A intron_variant LIRI-JP 4 148926335 148926335 single base substitution G T intron_variant LIRI-JP 4 148926585 148926585 single base substitution T G intron_variant LIRI-JP 4 148926844 148926844 single base substitution G C intron_variant LIRI-JP 4 148929724 148929724 single base substitution C T intron_variant LIRI-JP 4 148930110 148930110 single base substitution T C intron_variant LIRI-JP 4 148931423 148931423 single base substitution C A intron_variant LIRI-JP 4 148931739 148931739 single base substitution C G intron_variant LIRI-JP 4 148932682 148932682 single base substitution C T intron_variant LIRI-JP 4 148933576 148933576 single base substitution T C intron_variant LIRI-JP 4 148934755 148934755 single base substitution C T intron_variant LIRI-JP 4 148940728 148940728 single base substitution C A intron_variant LIRI-JP 4 148940728 148940728 single base substitution C A upstream_gene_variant LIRI-JP 4 148941292 148941292 single base substitution G T intron_variant LIRI-JP 4 148941292 148941292 single base substitution G T upstream_gene_variant LIRI-JP 4 148942568 148942568 single base substitution T C intron_variant LIRI-JP 4 148942568 148942568 single base substitution T C upstream_gene_variant LIRI-JP 4 148943271 148943271 single base substitution T A intron_variant LIRI-JP 4 148943271 148943271 single base substitution T A upstream_gene_variant LIRI-JP 4 148943316 148943316 single base substitution A G intron_variant LIRI-JP 4 148943316 148943316 single base substitution A G upstream_gene_variant LIRI-JP 4 148945210 148945210 single base substitution T A intron_variant LIRI-JP 4 148946287 148946287 single base substitution A C intron_variant LIRI-JP 4 148951731 148951731 single base substitution G T intron_variant LIRI-JP 4 148951777 148951777 single base substitution G A intron_variant LIRI-JP 4 148951875 148951875 single base substitution A G intron_variant LIRI-JP 4 148952308 148952308 single base substitution T G intron_variant LIRI-JP 4 148952521 148952521 single base substitution A G intron_variant LIRI-JP 4 148953145 148953145 single base substitution C G intron_variant LIRI-JP 4 148953435 148953435 single base substitution A G intron_variant LIRI-JP 4 148953885 148953885 single base substitution A G intron_variant LIRI-JP 4 148954456 148954456 single base substitution T C intron_variant LIRI-JP 4 148954790 148954790 single base substitution A T intron_variant LIRI-JP 4 148956006 148956006 single base substitution C A intron_variant LIRI-JP 4 148956641 148956641 single base substitution T A intron_variant LIRI-JP 4 148957327 148957327 single base substitution A C intron_variant LIRI-JP 4 148960938 148960938 single base substitution A G intron_variant LIRI-JP 4 148964747 148964747 single base substitution T G intron_variant LIRI-JP 4 148966483 148966483 single base substitution G T intron_variant LIRI-JP 4 148969807 148969807 single base substitution T A intron_variant LIRI-JP 4 148970158 148970158 insertion of <=200bp - T intron_variant LIRI-JP 4 148970825 148970825 single base substitution T C intron_variant LIRI-JP 4 148970902 148970902 single base substitution T A intron_variant LIRI-JP 4 148973035 148973035 single base substitution G A intron_variant LIRI-JP 4 148973274 148973274 single base substitution C A intron_variant LIRI-JP 4 148974613 148974613 single base substitution A T intron_variant LIRI-JP 4 148975531 148975531 single base substitution C T intron_variant LIRI-JP 4 148976283 148976283 single base substitution A C intron_variant LIRI-JP 4 148978343 148978343 single base substitution A C intron_variant LIRI-JP 4 148978358 148978366 deletion of <=200bp TGCCAGCTC - intron_variant LIRI-JP 4 148978375 148978375 single base substitution A C intron_variant LIRI-JP 4 148978913 148978913 single base substitution C T intron_variant LIRI-JP 4 148980717 148980718 deletion of <=200bp CA - intron_variant LIRI-JP 4 148982063 148982063 single base substitution G T intron_variant LIRI-JP 4 148982063 148982063 single base substitution G T upstream_gene_variant LIRI-JP 4 148983525 148983525 single base substitution G A intron_variant LIRI-JP 4 148983525 148983525 single base substitution G A upstream_gene_variant LIRI-JP 4 148985120 148985120 single base substitution C T downstream_gene_variant LIRI-JP 4 148985120 148985120 single base substitution C T intron_variant LIRI-JP 4 148985120 148985120 single base substitution C T upstream_gene_variant LIRI-JP 4 148986137 148986137 single base substitution T C downstream_gene_variant LIRI-JP 4 148986137 148986137 single base substitution T C intron_variant LIRI-JP 4 148986137 148986137 single base substitution T C upstream_gene_variant LIRI-JP 4 148986828 148986828 single base substitution C T downstream_gene_variant LIRI-JP 4 148986828 148986828 single base substitution C T intron_variant LIRI-JP 4 148987672 148987672 single base substitution T C downstream_gene_variant LIRI-JP 4 148987672 148987672 single base substitution T C intron_variant LIRI-JP 4 148991162 148991162 single base substitution A G intron_variant LIRI-JP 4 148992741 148992741 single base substitution T C intron_variant LIRI-JP 4 148994214 148994214 single base substitution T C downstream_gene_variant LUSC-KR 4 148650663 148650663 single base substitution C T upstream_gene_variant LUSC-KR 4 148652682 148652682 single base substitution C T upstream_gene_variant LUSC-KR 4 148653029 148653029 single base substitution G C upstream_gene_variant LUSC-KR 4 148654212 148654212 single base substitution C G intron_variant LUSC-KR 4 148658495 148658495 single base substitution G T intron_variant LUSC-KR 4 148660425 148660425 single base substitution G A intron_variant LUSC-KR 4 148662077 148662077 single base substitution G T intron_variant LUSC-KR 4 148662945 148662945 single base substitution A G intron_variant LUSC-KR 4 148667060 148667060 single base substitution C G intron_variant LUSC-KR 4 148673914 148673914 single base substitution G A intron_variant LUSC-KR 4 148685383 148685383 single base substitution G T intron_variant LUSC-KR 4 148685384 148685384 single base substitution G T intron_variant LUSC-KR 4 148688658 148688658 single base substitution G T intron_variant LUSC-KR 4 148693250 148693250 single base substitution T G intron_variant LUSC-KR 4 148699546 148699546 single base substitution G T intron_variant LUSC-KR 4 148702572 148702572 single base substitution A T intron_variant LUSC-KR 4 148702814 148702814 single base substitution A T intron_variant LUSC-KR 4 148711637 148711637 single base substitution C G intron_variant LUSC-KR 4 148717342 148717342 single base substitution C G intron_variant LUSC-KR 4 148727030 148727030 single base substitution G T intron_variant LUSC-KR 4 148730354 148730354 single base substitution C T intron_variant LUSC-KR 4 148731660 148731660 single base substitution T C intron_variant LUSC-KR 4 148737691 148737691 single base substitution G C intron_variant LUSC-KR 4 148738702 148738702 single base substitution G T intron_variant LUSC-KR 4 148739168 148739168 single base substitution G T intron_variant LUSC-KR 4 148744146 148744146 single base substitution C T intron_variant LUSC-KR 4 148754812 148754812 single base substitution G T intron_variant LUSC-KR 4 148758833 148758833 single base substitution C A intron_variant LUSC-KR 4 148763356 148763356 single base substitution G C intron_variant LUSC-KR 4 148766208 148766208 single base substitution G T intron_variant LUSC-KR 4 148773588 148773588 single base substitution G T intron_variant LUSC-KR 4 148775997 148775997 single base substitution G T intron_variant LUSC-KR 4 148777175 148777175 single base substitution G C intron_variant LUSC-KR 4 148777175 148777175 single base substitution G C upstream_gene_variant LUSC-KR 4 148794182 148794182 single base substitution G T intron_variant LUSC-KR 4 148803212 148803212 single base substitution G T intron_variant LUSC-KR 4 148803887 148803887 single base substitution A G intron_variant LUSC-KR 4 148815962 148815962 single base substitution C T intron_variant LUSC-KR 4 148817150 148817150 single base substitution C G intron_variant LUSC-KR 4 148819375 148819375 single base substitution C T intron_variant LUSC-KR 4 148824558 148824558 single base substitution A T intron_variant LUSC-KR 4 148827426 148827426 single base substitution G T intron_variant LUSC-KR 4 148828257 148828257 single base substitution G A intron_variant LUSC-KR 4 148830759 148830759 single base substitution A G intron_variant LUSC-KR 4 148835966 148835966 single base substitution C G intron_variant LUSC-KR 4 148837656 148837656 single base substitution C A intron_variant LUSC-KR 4 148839305 148839305 single base substitution G T intron_variant LUSC-KR 4 148840727 148840727 single base substitution T C intron_variant LUSC-KR 4 148840728 148840728 single base substitution C T intron_variant LUSC-KR 4 148849577 148849577 single base substitution G T intron_variant LUSC-KR 4 148849642 148849642 single base substitution G A intron_variant LUSC-KR 4 148851095 148851095 single base substitution C T intron_variant LUSC-KR 4 148852152 148852152 single base substitution G A intron_variant LUSC-KR 4 148864417 148864417 single base substitution A T intron_variant LUSC-KR 4 148864417 148864417 single base substitution A T upstream_gene_variant LUSC-KR 4 148868087 148868087 single base substitution G T intron_variant LUSC-KR 4 148873939 148873939 single base substitution G T intron_variant LUSC-KR 4 148879978 148879978 single base substitution C G intron_variant LUSC-KR 4 148880847 148880847 single base substitution C T intron_variant LUSC-KR 4 148899819 148899819 single base substitution G C intron_variant LUSC-KR 4 148902154 148902154 single base substitution T G intron_variant LUSC-KR 4 148902929 148902929 single base substitution G T intron_variant LUSC-KR 4 148906615 148906615 single base substitution C T intron_variant LUSC-KR 4 148910190 148910190 single base substitution T C intron_variant LUSC-KR 4 148913469 148913469 single base substitution C T intron_variant LUSC-KR 4 148919932 148919932 single base substitution C T intron_variant LUSC-KR 4 148921557 148921557 single base substitution A C intron_variant LUSC-KR 4 148923309 148923309 single base substitution C T intron_variant LUSC-KR 4 148925165 148925165 single base substitution G T intron_variant LUSC-KR 4 148925166 148925166 single base substitution G T intron_variant LUSC-KR 4 148929221 148929221 single base substitution G T intron_variant LUSC-KR 4 148935740 148935740 single base substitution G T intron_variant LUSC-KR 4 148939047 148939047 single base substitution G C intron_variant LUSC-KR 4 148939080 148939080 single base substitution A T intron_variant LUSC-KR 4 148940489 148940489 single base substitution A G intron_variant LUSC-KR 4 148940489 148940489 single base substitution A G upstream_gene_variant LUSC-KR 4 148946579 148946579 single base substitution C T intron_variant LUSC-KR 4 148948912 148948912 single base substitution A T intron_variant LUSC-KR 4 148953335 148953335 single base substitution A G intron_variant LUSC-KR 4 148954328 148954328 single base substitution T A intron_variant LUSC-KR 4 148959098 148959098 single base substitution C A intron_variant LUSC-KR 4 148963186 148963186 single base substitution G T intron_variant LUSC-KR 4 148968186 148968186 single base substitution G T exon_variant LUSC-KR 4 148968186 148968186 single base substitution G T missense_variant D320Y 958G>T LUSC-KR 4 148968186 148968186 single base substitution G T missense_variant D348Y 1042G>T LUSC-KR 4 148968186 148968186 single base substitution G T missense_variant D671Y 2011G>T LUSC-KR 4 148974110 148974110 single base substitution G A intron_variant LUSC-KR 4 148981146 148981146 single base substitution G A intron_variant LUSC-KR 4 148995269 148995269 single base substitution G C downstream_gene_variant LUSC-KR 4 148997953 148997953 single base substitution A G downstream_gene_variant LUSC-US 4 148653489 148653489 single base substitution C A exon_variant LUSC-US 4 148653489 148653489 single base substitution C A missense_variant L13I 37C>A LUSC-US 4 148743893 148743893 single base substitution A T exon_variant LUSC-US 4 148743893 148743893 single base substitution A T missense_variant Q57L 170A>T LUSC-US 4 148876465 148876465 single base substitution A G splice_acceptor_variant LUSC-US 4 148968149 148968149 single base substitution C G exon_variant LUSC-US 4 148968149 148968149 single base substitution C G missense_variant D307E 921C>G LUSC-US 4 148968149 148968149 single base substitution C G missense_variant D335E 1005C>G LUSC-US 4 148968149 148968149 single base substitution C G missense_variant D658E 1974C>G MALY-DE 4 148648685 148648685 single base substitution T G upstream_gene_variant MALY-DE 4 148658152 148658152 single base substitution C T intron_variant MALY-DE 4 148666705 148666705 single base substitution C T intron_variant MALY-DE 4 148668547 148668547 single base substitution A G intron_variant MALY-DE 4 148674534 148674534 single base substitution G T intron_variant MALY-DE 4 148675982 148675982 single base substitution C T intron_variant MALY-DE 4 148677125 148677125 single base substitution T C intron_variant MALY-DE 4 148678174 148678175 deletion of <=200bp GA - intron_variant MALY-DE 4 148685263 148685263 single base substitution G T intron_variant MALY-DE 4 148693633 148693633 single base substitution T C intron_variant MALY-DE 4 148702428 148702428 single base substitution G A intron_variant MALY-DE 4 148707363 148707363 single base substitution G T intron_variant MALY-DE 4 148707458 148707458 deletion of <=200bp T - intron_variant MALY-DE 4 148710898 148710898 deletion of <=200bp C - intron_variant MALY-DE 4 148712023 148712023 single base substitution A T intron_variant MALY-DE 4 148713297 148713297 single base substitution C T intron_variant MALY-DE 4 148717981 148717981 single base substitution C T intron_variant MALY-DE 4 148718357 148718357 deletion of <=200bp T - intron_variant MALY-DE 4 148718649 148718649 single base substitution C T intron_variant MALY-DE 4 148718950 148718950 single base substitution C T intron_variant MALY-DE 4 148723524 148723524 single base substitution T A intron_variant MALY-DE 4 148725487 148725487 deletion of <=200bp T - intron_variant MALY-DE 4 148728592 148728592 deletion of <=200bp T - intron_variant MALY-DE 4 148735838 148735838 single base substitution G A intron_variant MALY-DE 4 148739784 148739784 single base substitution G A intron_variant MALY-DE 4 148741378 148741378 single base substitution T A intron_variant MALY-DE 4 148743402 148743402 single base substitution G T intron_variant MALY-DE 4 148745170 148745170 insertion of <=200bp - A intron_variant MALY-DE 4 148748284 148748284 single base substitution T A intron_variant MALY-DE 4 148748305 148748305 single base substitution T C intron_variant MALY-DE 4 148748381 148748381 single base substitution T G intron_variant MALY-DE 4 148748957 148748957 insertion of <=200bp - T intron_variant MALY-DE 4 148749538 148749538 single base substitution C T intron_variant MALY-DE 4 148754966 148754966 single base substitution A C intron_variant MALY-DE 4 148757197 148757197 single base substitution C A intron_variant MALY-DE 4 148772421 148772421 single base substitution T A intron_variant MALY-DE 4 148773390 148773390 single base substitution G A intron_variant MALY-DE 4 148775759 148775759 deletion of <=200bp A - intron_variant MALY-DE 4 148776916 148776916 single base substitution T G intron_variant MALY-DE 4 148789065 148789065 single base substitution T C intron_variant MALY-DE 4 148789111 148789111 single base substitution A G intron_variant MALY-DE 4 148792473 148792473 single base substitution G A intron_variant MALY-DE 4 148793975 148793975 single base substitution A G intron_variant MALY-DE 4 148801373 148801373 single base substitution A G intron_variant MALY-DE 4 148801373 148801373 single base substitution A G upstream_gene_variant MALY-DE 4 148801515 148801515 single base substitution A T intron_variant MALY-DE 4 148801515 148801515 single base substitution A T upstream_gene_variant MALY-DE 4 148801958 148801958 single base substitution T G intron_variant MALY-DE 4 148801958 148801958 single base substitution T G upstream_gene_variant MALY-DE 4 148802268 148802268 single base substitution T C intron_variant MALY-DE 4 148802268 148802268 single base substitution T C upstream_gene_variant MALY-DE 4 148805677 148805677 insertion of <=200bp - T intron_variant MALY-DE 4 148805929 148805929 single base substitution C A intron_variant MALY-DE 4 148807499 148807499 single base substitution T G intron_variant MALY-DE 4 148810354 148810354 single base substitution C T intron_variant MALY-DE 4 148817209 148817209 single base substitution T C intron_variant MALY-DE 4 148818495 148818495 single base substitution C A intron_variant MALY-DE 4 148818496 148818496 single base substitution T A intron_variant MALY-DE 4 148818997 148818997 deletion of <=200bp T - intron_variant MALY-DE 4 148820480 148820481 deletion of <=200bp GT - intron_variant MALY-DE 4 148828670 148828670 single base substitution G T intron_variant MALY-DE 4 148831520 148831520 single base substitution A G intron_variant MALY-DE 4 148837000 148837000 single base substitution A C intron_variant MALY-DE 4 148841523 148841523 single base substitution G A intron_variant MALY-DE 4 148846135 148846135 single base substitution T A intron_variant MALY-DE 4 148849257 148849257 single base substitution A C intron_variant MALY-DE 4 148849687 148849687 single base substitution G A intron_variant MALY-DE 4 148852975 148852975 single base substitution A G intron_variant MALY-DE 4 148857452 148857452 single base substitution G A intron_variant MALY-DE 4 148859723 148859723 single base substitution C T intron_variant MALY-DE 4 148860514 148860514 single base substitution T G intron_variant MALY-DE 4 148868560 148868560 insertion of <=200bp - T intron_variant MALY-DE 4 148868624 148868624 single base substitution G T intron_variant MALY-DE 4 148870321 148870321 insertion of <=200bp - T intron_variant MALY-DE 4 148877900 148877900 single base substitution C T intron_variant MALY-DE 4 148884326 148884326 single base substitution G A intron_variant MALY-DE 4 148888877 148888877 single base substitution G A intron_variant MALY-DE 4 148889074 148889074 single base substitution T C intron_variant MALY-DE 4 148889178 148889178 single base substitution G A intron_variant MALY-DE 4 148893114 148893114 single base substitution G A intron_variant MALY-DE 4 148896747 148896747 single base substitution A G intron_variant MALY-DE 4 148899953 148899953 single base substitution C T intron_variant MALY-DE 4 148901688 148901688 single base substitution T A intron_variant MALY-DE 4 148904774 148904774 single base substitution C T intron_variant MALY-DE 4 148905327 148905327 single base substitution A G intron_variant MALY-DE 4 148905425 148905425 single base substitution G A intron_variant MALY-DE 4 148908208 148908208 single base substitution G C intron_variant MALY-DE 4 148908471 148908471 single base substitution T G intron_variant MALY-DE 4 148909560 148909560 single base substitution T A intron_variant MALY-DE 4 148915217 148915217 single base substitution C T intron_variant MALY-DE 4 148917840 148917840 single base substitution C A intron_variant MALY-DE 4 148918608 148918608 single base substitution G T intron_variant MALY-DE 4 148918815 148918815 single base substitution A T intron_variant MALY-DE 4 148919163 148919163 single base substitution T G intron_variant MALY-DE 4 148924966 148924966 single base substitution A C intron_variant MALY-DE 4 148928135 148928135 single base substitution T G intron_variant MALY-DE 4 148928154 148928154 single base substitution T A intron_variant MALY-DE 4 148928607 148928607 single base substitution G A intron_variant MALY-DE 4 148929617 148929617 single base substitution C T intron_variant MALY-DE 4 148940617 148940617 single base substitution C T intron_variant MALY-DE 4 148940617 148940617 single base substitution C T upstream_gene_variant MALY-DE 4 148941914 148941914 single base substitution G A intron_variant MALY-DE 4 148941914 148941914 single base substitution G A upstream_gene_variant MALY-DE 4 148945623 148945623 single base substitution C T intron_variant MALY-DE 4 148950032 148950032 single base substitution A T intron_variant MALY-DE 4 148952851 148952851 single base substitution T C intron_variant MALY-DE 4 148954578 148954578 single base substitution C T intron_variant MALY-DE 4 148955357 148955357 single base substitution G A intron_variant MALY-DE 4 148955687 148955687 single base substitution C T intron_variant MALY-DE 4 148958496 148958496 single base substitution C T intron_variant MALY-DE 4 148964858 148964858 single base substitution A C intron_variant MALY-DE 4 148971958 148971958 single base substitution T G intron_variant MALY-DE 4 148976998 148976998 single base substitution C T intron_variant MALY-DE 4 148977685 148977685 single base substitution T G intron_variant MALY-DE 4 148980080 148980080 single base substitution G C intron_variant MALY-DE 4 148983204 148983204 single base substitution C T intron_variant MALY-DE 4 148983204 148983204 single base substitution C T upstream_gene_variant MALY-DE 4 148983735 148983735 insertion of <=200bp - A intron_variant MALY-DE 4 148983735 148983735 insertion of <=200bp - A upstream_gene_variant MALY-DE 4 148984165 148984165 single base substitution G A intron_variant MALY-DE 4 148984165 148984165 single base substitution G A upstream_gene_variant MALY-DE 4 148992246 148992246 single base substitution G A intron_variant MALY-DE 4 148993132 148993132 single base substitution C A intron_variant MELA-AU 4 148648376 148648376 single base substitution G T upstream_gene_variant MELA-AU 4 148648396 148648396 single base substitution C T upstream_gene_variant MELA-AU 4 148648568 148648568 single base substitution C T upstream_gene_variant MELA-AU 4 148648602 148648602 single base substitution C T upstream_gene_variant MELA-AU 4 148648629 148648629 single base substitution C T upstream_gene_variant MELA-AU 4 148648647 148648647 single base substitution G A upstream_gene_variant MELA-AU 4 148648766 148648768 multiple base substitution (>=2bp and <=200bp) TAA ACC upstream_gene_variant MELA-AU 4 148649286 148649286 single base substitution T C upstream_gene_variant MELA-AU 4 148649907 148649907 single base substitution G A upstream_gene_variant MELA-AU 4 148649963 148649963 single base substitution G C upstream_gene_variant MELA-AU 4 148650274 148650274 single base substitution T C upstream_gene_variant MELA-AU 4 148650712 148650712 single base substitution T C upstream_gene_variant MELA-AU 4 148650774 148650774 single base substitution C T upstream_gene_variant MELA-AU 4 148650973 148650973 single base substitution C T upstream_gene_variant MELA-AU 4 148651123 148651123 single base substitution G A upstream_gene_variant MELA-AU 4 148651846 148651846 single base substitution G A upstream_gene_variant MELA-AU 4 148653804 148653804 single base substitution C T intron_variant MELA-AU 4 148655875 148655875 single base substitution T G intron_variant MELA-AU 4 148655935 148655935 single base substitution T C intron_variant MELA-AU 4 148656202 148656202 single base substitution G A intron_variant MELA-AU 4 148658020 148658020 single base substitution C T intron_variant MELA-AU 4 148658641 148658641 single base substitution A G intron_variant MELA-AU 4 148658738 148658739 multiple base substitution (>=2bp and <=200bp) CC TT intron_variant MELA-AU 4 148659271 148659271 single base substitution G A intron_variant MELA-AU 4 148659707 148659707 single base substitution C T intron_variant MELA-AU 4 148659940 148659940 single base substitution C T intron_variant MELA-AU 4 148660021 148660021 single base substitution G C intron_variant MELA-AU 4 148660050 148660050 single base substitution G C intron_variant MELA-AU 4 148660404 148660404 single base substitution T G intron_variant MELA-AU 4 148660886 148660887 multiple base substitution (>=2bp and <=200bp) GG AA intron_variant MELA-AU 4 148661096 148661096 single base substitution A T intron_variant MELA-AU 4 148662178 148662178 single base substitution C T intron_variant MELA-AU 4 148662179 148662179 single base substitution C T intron_variant MELA-AU 4 148662463 148662463 single base substitution T A intron_variant MELA-AU 4 148662731 148662731 single base substitution C T intron_variant MELA-AU 4 148663562 148663562 single base substitution C T intron_variant MELA-AU 4 148664010 148664010 single base substitution G A intron_variant MELA-AU 4 148664140 148664140 single base substitution G A intron_variant MELA-AU 4 148664169 148664169 single base substitution C T intron_variant MELA-AU 4 148664258 148664258 single base substitution C T intron_variant MELA-AU 4 148664294 148664294 single base substitution C T intron_variant MELA-AU 4 148665556 148665556 single base substitution C T intron_variant MELA-AU 4 148665927 148665927 single base substitution C T intron_variant MELA-AU 4 148667028 148667028 single base substitution C T intron_variant MELA-AU 4 148667378 148667378 single base substitution C T intron_variant MELA-AU 4 148667390 148667390 single base substitution G A intron_variant MELA-AU 4 148667642 148667642 single base substitution C T intron_variant MELA-AU 4 148667702 148667702 single base substitution C T intron_variant MELA-AU 4 148668525 148668525 single base substitution T G intron_variant MELA-AU 4 148668762 148668762 single base substitution C T intron_variant MELA-AU 4 148668850 148668850 single base substitution C T intron_variant MELA-AU 4 148670561 148670561 single base substitution C T intron_variant MELA-AU 4 148670765 148670765 single base substitution C T intron_variant MELA-AU 4 148670837 148670837 single base substitution C T intron_variant MELA-AU 4 148671757 148671757 single base substitution T A intron_variant MELA-AU 4 148671911 148671911 single base substitution C T intron_variant MELA-AU 4 148672455 148672455 single base substitution A T intron_variant MELA-AU 4 148673354 148673354 single base substitution G A intron_variant MELA-AU 4 148674135 148674135 single base substitution C T intron_variant MELA-AU 4 148675140 148675140 single base substitution A T intron_variant MELA-AU 4 148675245 148675245 single base substitution C T intron_variant MELA-AU 4 148677568 148677568 single base substitution C T intron_variant MELA-AU 4 148677617 148677617 single base substitution A G intron_variant MELA-AU 4 148677787 148677787 single base substitution T G intron_variant MELA-AU 4 148677901 148677901 single base substitution C T intron_variant MELA-AU 4 148678455 148678455 single base substitution C T intron_variant MELA-AU 4 148678497 148678497 single base substitution G A intron_variant MELA-AU 4 148678767 148678767 single base substitution C T intron_variant MELA-AU 4 148678956 148678956 single base substitution C T intron_variant MELA-AU 4 148679713 148679713 single base substitution G A intron_variant MELA-AU 4 148680084 148680084 single base substitution C T intron_variant MELA-AU 4 148680547 148680547 single base substitution C T intron_variant MELA-AU 4 148680938 148680938 single base substitution C T intron_variant MELA-AU 4 148681482 148681482 single base substitution T C intron_variant MELA-AU 4 148681730 148681730 single base substitution C T intron_variant MELA-AU 4 148681910 148681910 single base substitution C T intron_variant MELA-AU 4 148683080 148683080 single base substitution C T intron_variant MELA-AU 4 148683710 148683710 single base substitution C T intron_variant MELA-AU 4 148684368 148684368 single base substitution T C intron_variant MELA-AU 4 148684587 148684587 single base substitution C T intron_variant MELA-AU 4 148684666 148684666 single base substitution T C intron_variant MELA-AU 4 148684948 148684948 single base substitution C T intron_variant MELA-AU 4 148685060 148685060 single base substitution C T intron_variant MELA-AU 4 148685661 148685661 single base substitution G A intron_variant MELA-AU 4 148685777 148685777 single base substitution T G intron_variant MELA-AU 4 148685875 148685875 single base substitution G A intron_variant MELA-AU 4 148686116 148686116 single base substitution G A intron_variant MELA-AU 4 148686132 148686132 single base substitution C T intron_variant MELA-AU 4 148686421 148686421 single base substitution C T intron_variant MELA-AU 4 148687434 148687434 single base substitution C T intron_variant MELA-AU 4 148688200 148688200 single base substitution C T intron_variant MELA-AU 4 148688567 148688567 single base substitution T A intron_variant MELA-AU 4 148690092 148690092 single base substitution T C intron_variant MELA-AU 4 148690382 148690382 single base substitution A C intron_variant MELA-AU 4 148690744 148690744 single base substitution G C intron_variant MELA-AU 4 148690807 148690807 single base substitution C T intron_variant MELA-AU 4 148691308 148691308 single base substitution G A intron_variant MELA-AU 4 148692000 148692000 single base substitution T C intron_variant MELA-AU 4 148692061 148692061 single base substitution C T intron_variant MELA-AU 4 148693360 148693361 multiple base substitution (>=2bp and <=200bp) CC TT intron_variant MELA-AU 4 148693434 148693434 single base substitution C T intron_variant MELA-AU 4 148693709 148693709 single base substitution A G intron_variant MELA-AU 4 148693819 148693819 single base substitution G C intron_variant MELA-AU 4 148694244 148694244 single base substitution T G intron_variant MELA-AU 4 148694335 148694335 single base substitution C T intron_variant MELA-AU 4 148694711 148694711 single base substitution A G intron_variant MELA-AU 4 148695459 148695459 single base substitution C T intron_variant MELA-AU 4 148695871 148695871 single base substitution C T intron_variant MELA-AU 4 148696099 148696099 single base substitution C T intron_variant MELA-AU 4 148696889 148696889 single base substitution T C intron_variant MELA-AU 4 148697053 148697053 single base substitution C T intron_variant MELA-AU 4 148697165 148697165 single base substitution C T intron_variant MELA-AU 4 148697197 148697197 single base substitution G A intron_variant MELA-AU 4 148697455 148697455 single base substitution C T intron_variant MELA-AU 4 148697784 148697784 single base substitution T C intron_variant MELA-AU 4 148697826 148697826 single base substitution C T intron_variant MELA-AU 4 148699167 148699167 single base substitution C T intron_variant MELA-AU 4 148699262 148699262 single base substitution C T intron_variant MELA-AU 4 148699588 148699588 single base substitution G A intron_variant MELA-AU 4 148699813 148699814 multiple base substitution (>=2bp and <=200bp) GG AA intron_variant MELA-AU 4 148700429 148700429 single base substitution C T intron_variant MELA-AU 4 148700433 148700434 multiple base substitution (>=2bp and <=200bp) GG AA intron_variant MELA-AU 4 148702332 148702332 single base substitution A G intron_variant MELA-AU 4 148702378 148702378 single base substitution C T intron_variant MELA-AU 4 148702722 148702722 single base substitution C T intron_variant MELA-AU 4 148704785 148704785 single base substitution G A intron_variant MELA-AU 4 148707988 148707988 single base substitution C T intron_variant MELA-AU 4 148708056 148708057 multiple base substitution (>=2bp and <=200bp) CC TT intron_variant MELA-AU 4 148708632 148708632 single base substitution C T intron_variant MELA-AU 4 148708898 148708898 single base substitution G C intron_variant MELA-AU 4 148709290 148709290 single base substitution T G intron_variant MELA-AU 4 148710127 148710127 single base substitution C T intron_variant MELA-AU 4 148710999 148710999 single base substitution C T intron_variant MELA-AU 4 148711316 148711317 multiple base substitution (>=2bp and <=200bp) CC TT intron_variant MELA-AU 4 148711594 148711594 single base substitution T G intron_variant MELA-AU 4 148711629 148711629 single base substitution C T intron_variant MELA-AU 4 148711915 148711915 single base substitution C T intron_variant MELA-AU 4 148712093 148712093 single base substitution C T intron_variant MELA-AU 4 148712604 148712604 single base substitution C T intron_variant MELA-AU 4 148712956 148712956 single base substitution G A intron_variant MELA-AU 4 148713228 148713228 single base substitution C T intron_variant MELA-AU 4 148714172 148714172 single base substitution C T intron_variant MELA-AU 4 148714236 148714237 multiple base substitution (>=2bp and <=200bp) CC AT intron_variant MELA-AU 4 148714412 148714413 multiple base substitution (>=2bp and <=200bp) GT AA intron_variant MELA-AU 4 148714474 148714474 single base substitution T A intron_variant MELA-AU 4 148715317 148715317 single base substitution T C intron_variant MELA-AU 4 148715961 148715961 single base substitution T A intron_variant MELA-AU 4 148716340 148716340 single base substitution C T intron_variant MELA-AU 4 148716514 148716514 single base substitution C T intron_variant MELA-AU 4 148717006 148717006 single base substitution C T intron_variant MELA-AU 4 148717356 148717356 single base substitution C T intron_variant MELA-AU 4 148717661 148717661 single base substitution C T intron_variant MELA-AU 4 148717820 148717820 single base substitution G A intron_variant MELA-AU 4 148718656 148718656 single base substitution C T intron_variant MELA-AU 4 148719049 148719049 single base substitution C T intron_variant MELA-AU 4 148719081 148719081 single base substitution C T intron_variant MELA-AU 4 148719301 148719301 single base substitution C T intron_variant MELA-AU 4 148719421 148719421 single base substitution C T intron_variant MELA-AU 4 148720018 148720018 single base substitution C T intron_variant MELA-AU 4 148720178 148720178 single base substitution C G intron_variant MELA-AU 4 148721112 148721112 single base substitution T G intron_variant MELA-AU 4 148721301 148721301 single base substitution C T intron_variant MELA-AU 4 148721643 148721643 single base substitution G A intron_variant MELA-AU 4 148721800 148721800 single base substitution C T intron_variant MELA-AU 4 148721860 148721860 single base substitution T G intron_variant MELA-AU 4 148722327 148722327 single base substitution C T intron_variant MELA-AU 4 148723235 148723235 single base substitution C A intron_variant MELA-AU 4 148723663 148723663 single base substitution C T intron_variant MELA-AU 4 148723791 148723791 single base substitution C T intron_variant MELA-AU 4 148724062 148724063 multiple base substitution (>=2bp and <=200bp) CC TT intron_variant MELA-AU 4 148724147 148724147 single base substitution C T intron_variant MELA-AU 4 148724600 148724600 single base substitution T G intron_variant MELA-AU 4 148725511 148725511 single base substitution C T intron_variant MELA-AU 4 148726065 148726065 single base substitution C T intron_variant MELA-AU 4 148726425 148726425 single base substitution C T intron_variant MELA-AU 4 148727199 148727199 single base substitution C T intron_variant MELA-AU 4 148727359 148727359 single base substitution T C intron_variant MELA-AU 4 148728319 148728319 single base substitution C T intron_variant MELA-AU 4 148728775 148728775 single base substitution C T intron_variant MELA-AU 4 148728967 148728967 single base substitution G A intron_variant MELA-AU 4 148729225 148729225 single base substitution C G intron_variant MELA-AU 4 148729673 148729673 single base substitution C T intron_variant MELA-AU 4 148729752 148729752 single base substitution G A intron_variant MELA-AU 4 148729922 148729922 single base substitution C T intron_variant MELA-AU 4 148730861 148730861 single base substitution C T intron_variant MELA-AU 4 148731125 148731125 single base substitution T A intron_variant MELA-AU 4 148732098 148732098 single base substitution C T intron_variant MELA-AU 4 148732199 148732199 single base substitution C T intron_variant MELA-AU 4 148732328 148732328 single base substitution C T intron_variant MELA-AU 4 148732741 148732741 single base substitution T A intron_variant MELA-AU 4 148732809 148732809 single base substitution A T intron_variant MELA-AU 4 148733016 148733016 single base substitution A T intron_variant MELA-AU 4 148733452 148733452 single base substitution C T intron_variant MELA-AU 4 148733988 148733988 single base substitution C T intron_variant MELA-AU 4 148734869 148734870 multiple base substitution (>=2bp and <=200bp) TG CT intron_variant MELA-AU 4 148735479 148735479 single base substitution G A intron_variant MELA-AU 4 148735667 148735668 multiple base substitution (>=2bp and <=200bp) CC TT intron_variant MELA-AU 4 148735668 148735668 single base substitution C T intron_variant MELA-AU 4 148736256 148736256 single base substitution A G intron_variant MELA-AU 4 148736335 148736335 single base substitution C T intron_variant MELA-AU 4 148736990 148736990 single base substitution C T intron_variant MELA-AU 4 148737279 148737279 single base substitution C T intron_variant MELA-AU 4 148737491 148737491 single base substitution A G intron_variant MELA-AU 4 148737926 148737926 single base substitution A G intron_variant MELA-AU 4 148739524 148739524 single base substitution C T intron_variant MELA-AU 4 148739641 148739641 single base substitution C T intron_variant MELA-AU 4 148740688 148740688 single base substitution T C intron_variant MELA-AU 4 148741556 148741556 single base substitution C T intron_variant MELA-AU 4 148741672 148741672 single base substitution G A intron_variant MELA-AU 4 148742889 148742889 single base substitution C T intron_variant MELA-AU 4 148743024 148743024 single base substitution G A intron_variant MELA-AU 4 148743306 148743306 single base substitution T A intron_variant MELA-AU 4 148744206 148744206 single base substitution C T intron_variant MELA-AU 4 148744954 148744954 single base substitution C T intron_variant MELA-AU 4 148745489 148745489 single base substitution G A intron_variant MELA-AU 4 148745917 148745917 single base substitution C T intron_variant MELA-AU 4 148747125 148747125 single base substitution C T intron_variant MELA-AU 4 148747163 148747163 single base substitution G A intron_variant MELA-AU 4 148747199 148747199 single base substitution C T intron_variant MELA-AU 4 148747240 148747240 single base substitution G A intron_variant MELA-AU 4 148747293 148747293 single base substitution C T intron_variant MELA-AU 4 148747397 148747397 single base substitution A G intron_variant MELA-AU 4 148747742 148747742 single base substitution C T intron_variant MELA-AU 4 148749662 148749662 single base substitution A G intron_variant MELA-AU 4 148749717 148749717 single base substitution C T intron_variant MELA-AU 4 148750235 148750235 single base substitution C T intron_variant MELA-AU 4 148750642 148750642 single base substitution G C intron_variant MELA-AU 4 148750758 148750758 single base substitution C T intron_variant MELA-AU 4 148751246 148751246 single base substitution C T intron_variant MELA-AU 4 148751861 148751861 single base substitution G A intron_variant MELA-AU 4 148752373 148752373 single base substitution C T intron_variant MELA-AU 4 148753680 148753680 single base substitution C T intron_variant MELA-AU 4 148753775 148753775 single base substitution G A intron_variant MELA-AU 4 148753958 148753958 single base substitution C T intron_variant MELA-AU 4 148754145 148754145 single base substitution C T intron_variant MELA-AU 4 148754745 148754745 single base substitution G A intron_variant MELA-AU 4 148755274 148755274 single base substitution C T intron_variant MELA-AU 4 148755503 148755503 single base substitution C T intron_variant MELA-AU 4 148756117 148756117 single base substitution C T intron_variant MELA-AU 4 148757871 148757871 single base substitution C T intron_variant MELA-AU 4 148757937 148757937 single base substitution C T intron_variant MELA-AU 4 148758811 148758811 single base substitution T A intron_variant MELA-AU 4 148759265 148759265 single base substitution C T intron_variant MELA-AU 4 148759758 148759758 single base substitution C T intron_variant MELA-AU 4 148760023 148760023 single base substitution C T intron_variant MELA-AU 4 148760285 148760285 single base substitution A G intron_variant MELA-AU 4 148760289 148760289 single base substitution A G intron_variant MELA-AU 4 148760367 148760367 single base substitution C T intron_variant MELA-AU 4 148760518 148760518 single base substitution C T intron_variant MELA-AU 4 148760822 148760822 single base substitution C T intron_variant MELA-AU 4 148760857 148760857 single base substitution C T intron_variant MELA-AU 4 148762139 148762141 multiple base substitution (>=2bp and <=200bp) ACC TTT intron_variant MELA-AU 4 148762682 148762682 single base substitution C T intron_variant MELA-AU 4 148763056 148763056 single base substitution G A intron_variant MELA-AU 4 148763726 148763726 single base substitution C T intron_variant MELA-AU 4 148764277 148764277 single base substitution C T intron_variant MELA-AU 4 148765046 148765046 single base substitution C T intron_variant MELA-AU 4 148765113 148765113 single base substitution T A intron_variant MELA-AU 4 148765599 148765599 single base substitution T A intron_variant MELA-AU 4 148765942 148765942 single base substitution C T intron_variant MELA-AU 4 148766287 148766287 single base substitution C T intron_variant MELA-AU 4 148766402 148766402 single base substitution C T intron_variant MELA-AU 4 148766772 148766772 single base substitution C T intron_variant MELA-AU 4 148768333 148768333 single base substitution C T exon_variant MELA-AU 4 148768333 148768333 single base substitution C T missense_variant P115L 344C>T MELA-AU 4 148768967 148768967 single base substitution C T intron_variant MELA-AU 4 148769221 148769221 single base substitution C T intron_variant MELA-AU 4 148769282 148769282 single base substitution C T intron_variant MELA-AU 4 148769706 148769706 single base substitution C T intron_variant MELA-AU 4 148770362 148770362 single base substitution G A intron_variant MELA-AU 4 148770747 148770747 single base substitution C T intron_variant MELA-AU 4 148771184 148771184 single base substitution C T intron_variant MELA-AU 4 148771229 148771229 single base substitution C T intron_variant MELA-AU 4 148771470 148771471 multiple base substitution (>=2bp and <=200bp) GG AA intron_variant MELA-AU 4 148772473 148772473 single base substitution C T intron_variant MELA-AU 4 148772615 148772615 single base substitution C T intron_variant MELA-AU 4 148772632 148772633 multiple base substitution (>=2bp and <=200bp) GG AA intron_variant MELA-AU 4 148772814 148772814 single base substitution C T intron_variant MELA-AU 4 148773575 148773575 single base substitution T C intron_variant MELA-AU 4 148773683 148773683 single base substitution G T intron_variant MELA-AU 4 148773899 148773899 single base substitution C T intron_variant MELA-AU 4 148774462 148774462 single base substitution C T intron_variant MELA-AU 4 148775111 148775111 single base substitution C T intron_variant MELA-AU 4 148775617 148775618 multiple base substitution (>=2bp and <=200bp) CC TT intron_variant MELA-AU 4 148775626 148775626 single base substitution G A intron_variant MELA-AU 4 148776519 148776519 single base substitution T C intron_variant MELA-AU 4 148776932 148776932 single base substitution C T intron_variant MELA-AU 4 148776944 148776944 single base substitution G A intron_variant MELA-AU 4 148777179 148777179 single base substitution C T intron_variant MELA-AU 4 148777179 148777179 single base substitution C T upstream_gene_variant MELA-AU 4 148777865 148777865 single base substitution C T intron_variant MELA-AU 4 148777865 148777865 single base substitution C T upstream_gene_variant MELA-AU 4 148777900 148777900 single base substitution G A intron_variant MELA-AU 4 148777900 148777900 single base substitution G A upstream_gene_variant MELA-AU 4 148778089 148778089 single base substitution C T intron_variant MELA-AU 4 148778089 148778089 single base substitution C T upstream_gene_variant MELA-AU 4 148778949 148778949 single base substitution A T exon_variant MELA-AU 4 148778949 148778949 single base substitution A T intron_variant MELA-AU 4 148778949 148778949 single base substitution A T upstream_gene_variant MELA-AU 4 148779114 148779114 single base substitution C T exon_variant MELA-AU 4 148779114 148779114 single base substitution C T intron_variant MELA-AU 4 148779114 148779114 single base substitution C T upstream_gene_variant MELA-AU 4 148779174 148779174 single base substitution C T exon_variant MELA-AU 4 148779174 148779174 single base substitution C T intron_variant MELA-AU 4 148779174 148779174 single base substitution C T upstream_gene_variant MELA-AU 4 148779356 148779356 single base substitution C T exon_variant MELA-AU 4 148779356 148779356 single base substitution C T intron_variant MELA-AU 4 148779356 148779356 single base substitution C T upstream_gene_variant MELA-AU 4 148779380 148779380 single base substitution C A exon_variant MELA-AU 4 148779380 148779380 single base substitution C A intron_variant MELA-AU 4 148779380 148779380 single base substitution C A upstream_gene_variant MELA-AU 4 148779986 148779987 multiple base substitution (>=2bp and <=200bp) CC TT downstream_gene_variant MELA-AU 4 148779986 148779987 multiple base substitution (>=2bp and <=200bp) CC TT intron_variant MELA-AU 4 148779986 148779987 multiple base substitution (>=2bp and <=200bp) CC TT upstream_gene_variant MELA-AU 4 148780128 148780128 single base substitution C T downstream_gene_variant MELA-AU 4 148780128 148780128 single base substitution C T intron_variant MELA-AU 4 148780128 148780128 single base substitution C T upstream_gene_variant MELA-AU 4 148780207 148780207 single base substitution C T downstream_gene_variant MELA-AU 4 148780207 148780207 single base substitution C T intron_variant MELA-AU 4 148780207 148780207 single base substitution C T upstream_gene_variant MELA-AU 4 148780682 148780682 single base substitution C T downstream_gene_variant MELA-AU 4 148780682 148780682 single base substitution C T intron_variant MELA-AU 4 148780682 148780682 single base substitution C T upstream_gene_variant MELA-AU 4 148781625 148781625 single base substitution C T downstream_gene_variant MELA-AU 4 148781625 148781625 single base substitution C T intron_variant MELA-AU 4 148781625 148781625 single base substitution C T upstream_gene_variant MELA-AU 4 148781791 148781791 single base substitution T C downstream_gene_variant MELA-AU 4 148781791 148781791 single base substitution T C intron_variant MELA-AU 4 148781791 148781791 single base substitution T C upstream_gene_variant MELA-AU 4 148781792 148781792 single base substitution C T downstream_gene_variant MELA-AU 4 148781792 148781792 single base substitution C T intron_variant MELA-AU 4 148781792 148781792 single base substitution C T upstream_gene_variant MELA-AU 4 148781793 148781793 single base substitution C T downstream_gene_variant MELA-AU 4 148781793 148781793 single base substitution C T intron_variant MELA-AU 4 148781793 148781793 single base substitution C T upstream_gene_variant MELA-AU 4 148781815 148781815 single base substitution C T downstream_gene_variant MELA-AU 4 148781815 148781815 single base substitution C T intron_variant MELA-AU 4 148781815 148781815 single base substitution C T upstream_gene_variant MELA-AU 4 148781883 148781883 single base substitution C T downstream_gene_variant MELA-AU 4 148781883 148781883 single base substitution C T intron_variant MELA-AU 4 148781883 148781883 single base substitution C T upstream_gene_variant MELA-AU 4 148782309 148782309 single base substitution C T downstream_gene_variant MELA-AU 4 148782309 148782309 single base substitution C T exon_variant MELA-AU 4 148782309 148782309 single base substitution C T intron_variant MELA-AU 4 148782482 148782482 single base substitution G A downstream_gene_variant MELA-AU 4 148782482 148782482 single base substitution G A exon_variant MELA-AU 4 148782482 148782482 single base substitution G A intron_variant MELA-AU 4 148782964 148782964 single base substitution C T downstream_gene_variant MELA-AU 4 148782964 148782964 single base substitution C T exon_variant MELA-AU 4 148782964 148782964 single base substitution C T intron_variant MELA-AU 4 148783376 148783376 single base substitution C T downstream_gene_variant MELA-AU 4 148783376 148783376 single base substitution C T exon_variant MELA-AU 4 148783376 148783376 single base substitution C T intron_variant MELA-AU 4 148784444 148784444 single base substitution C T downstream_gene_variant MELA-AU 4 148784444 148784444 single base substitution C T exon_variant MELA-AU 4 148784444 148784444 single base substitution C T intron_variant MELA-AU 4 148785193 148785193 single base substitution G A exon_variant MELA-AU 4 148785193 148785193 single base substitution G A intron_variant MELA-AU 4 148785855 148785855 single base substitution C T exon_variant MELA-AU 4 148785855 148785855 single base substitution C T intron_variant MELA-AU 4 148786467 148786467 single base substitution T C exon_variant MELA-AU 4 148786467 148786467 single base substitution T C intron_variant MELA-AU 4 148787000 148787000 single base substitution T A exon_variant MELA-AU 4 148787000 148787000 single base substitution T A intron_variant MELA-AU 4 148787520 148787520 single base substitution A G exon_variant MELA-AU 4 148787520 148787520 single base substitution A G intron_variant MELA-AU 4 148787575 148787575 single base substitution C T exon_variant MELA-AU 4 148787575 148787575 single base substitution C T intron_variant MELA-AU 4 148788098 148788098 single base substitution C T intron_variant MELA-AU 4 148788102 148788102 single base substitution C T intron_variant MELA-AU 4 148788165 148788165 single base substitution C T intron_variant MELA-AU 4 148788502 148788502 single base substitution C T intron_variant MELA-AU 4 148788511 148788511 single base substitution C T intron_variant MELA-AU 4 148788674 148788674 single base substitution G A intron_variant MELA-AU 4 148788752 148788752 single base substitution C T intron_variant MELA-AU 4 148789563 148789563 single base substitution C T intron_variant MELA-AU 4 148789635 148789635 single base substitution C T intron_variant MELA-AU 4 148789652 148789652 single base substitution C T intron_variant MELA-AU 4 148790058 148790058 single base substitution C A intron_variant MELA-AU 4 148790077 148790077 single base substitution G T intron_variant MELA-AU 4 148791334 148791334 single base substitution C T intron_variant MELA-AU 4 148791771 148791771 single base substitution G A intron_variant MELA-AU 4 148792214 148792214 single base substitution C G intron_variant MELA-AU 4 148792398 148792398 single base substitution C A intron_variant MELA-AU 4 148792469 148792469 single base substitution G A intron_variant MELA-AU 4 148792499 148792499 single base substitution T C intron_variant MELA-AU 4 148792507 148792507 single base substitution C T intron_variant MELA-AU 4 148792532 148792532 single base substitution G A intron_variant MELA-AU 4 148792757 148792757 single base substitution C T intron_variant MELA-AU 4 148793052 148793052 single base substitution G A intron_variant MELA-AU 4 148793477 148793477 single base substitution C T intron_variant MELA-AU 4 148793660 148793660 single base substitution G A intron_variant MELA-AU 4 148794774 148794774 single base substitution C T intron_variant MELA-AU 4 148795112 148795112 single base substitution C T intron_variant MELA-AU 4 148795212 148795212 single base substitution C T intron_variant MELA-AU 4 148795833 148795833 single base substitution A T intron_variant MELA-AU 4 148796647 148796647 single base substitution T C intron_variant MELA-AU 4 148796651 148796651 single base substitution C T intron_variant MELA-AU 4 148796669 148796669 single base substitution C T intron_variant MELA-AU 4 148796793 148796793 single base substitution C T intron_variant MELA-AU 4 148796907 148796907 single base substitution C A intron_variant MELA-AU 4 148797119 148797119 single base substitution C T intron_variant MELA-AU 4 148798163 148798164 multiple base substitution (>=2bp and <=200bp) GG AA intron_variant MELA-AU 4 148798163 148798164 multiple base substitution (>=2bp and <=200bp) GG AA upstream_gene_variant MELA-AU 4 148799309 148799309 single base substitution C A intron_variant MELA-AU 4 148799309 148799309 single base substitution C A upstream_gene_variant MELA-AU 4 148799996 148799996 single base substitution C T intron_variant MELA-AU 4 148799996 148799996 single base substitution C T upstream_gene_variant MELA-AU 4 148800122 148800122 single base substitution C T intron_variant MELA-AU 4 148800122 148800122 single base substitution C T upstream_gene_variant MELA-AU 4 148800391 148800391 single base substitution C T exon_variant MELA-AU 4 148800391 148800391 single base substitution C T missense_variant P281S 841C>T MELA-AU 4 148800391 148800391 single base substitution C T upstream_gene_variant MELA-AU 4 148800724 148800724 single base substitution C T intron_variant MELA-AU 4 148800724 148800724 single base substitution C T upstream_gene_variant MELA-AU 4 148800778 148800778 single base substitution G A intron_variant MELA-AU 4 148800778 148800778 single base substitution G A upstream_gene_variant MELA-AU 4 148801066 148801066 single base substitution G A intron_variant MELA-AU 4 148801066 148801066 single base substitution G A upstream_gene_variant MELA-AU 4 148801165 148801165 single base substitution C T intron_variant MELA-AU 4 148801165 148801165 single base substitution C T upstream_gene_variant MELA-AU 4 148801959 148801959 single base substitution C T intron_variant MELA-AU 4 148801959 148801959 single base substitution C T upstream_gene_variant MELA-AU 4 148802240 148802240 single base substitution C T intron_variant MELA-AU 4 148802240 148802240 single base substitution C T upstream_gene_variant MELA-AU 4 148802251 148802251 single base substitution C T intron_variant MELA-AU 4 148802251 148802251 single base substitution C T upstream_gene_variant MELA-AU 4 148802568 148802568 single base substitution C T intron_variant MELA-AU 4 148802568 148802568 single base substitution C T upstream_gene_variant MELA-AU 4 148802671 148802671 single base substitution C T intron_variant MELA-AU 4 148802671 148802671 single base substitution C T upstream_gene_variant MELA-AU 4 148802906 148802906 single base substitution C T intron_variant MELA-AU 4 148802906 148802906 single base substitution C T upstream_gene_variant MELA-AU 4 148803825 148803825 single base substitution C T intron_variant MELA-AU 4 148804160 148804160 single base substitution C G intron_variant MELA-AU 4 148805393 148805393 single base substitution T C intron_variant MELA-AU 4 148805520 148805520 single base substitution G A intron_variant MELA-AU 4 148805708 148805708 single base substitution C T intron_variant MELA-AU 4 148806073 148806073 single base substitution C T intron_variant MELA-AU 4 148806171 148806171 single base substitution G A intron_variant MELA-AU 4 148806599 148806599 single base substitution C T intron_variant MELA-AU 4 148806627 148806627 single base substitution C T intron_variant MELA-AU 4 148806866 148806866 single base substitution C T intron_variant MELA-AU 4 148807700 148807700 single base substitution C T intron_variant MELA-AU 4 148808073 148808073 single base substitution C T intron_variant MELA-AU 4 148808134 148808134 single base substitution C T intron_variant MELA-AU 4 148808216 148808216 single base substitution G A intron_variant MELA-AU 4 148808291 148808291 single base substitution C T intron_variant MELA-AU 4 148808405 148808405 single base substitution C T intron_variant MELA-AU 4 148808940 148808940 single base substitution G A intron_variant MELA-AU 4 148809037 148809037 single base substitution C T intron_variant MELA-AU 4 148809213 148809213 single base substitution C T intron_variant MELA-AU 4 148809560 148809560 single base substitution C T intron_variant MELA-AU 4 148809629 148809629 single base substitution C T intron_variant MELA-AU 4 148809719 148809719 single base substitution C T intron_variant MELA-AU 4 148809831 148809831 single base substitution C T intron_variant MELA-AU 4 148809916 148809916 single base substitution C T intron_variant MELA-AU 4 148810082 148810082 single base substitution C T intron_variant MELA-AU 4 148810127 148810127 single base substitution T C intron_variant MELA-AU 4 148810135 148810135 single base substitution C T intron_variant MELA-AU 4 148810156 148810159 deletion of <=200bp CTTA - intron_variant MELA-AU 4 148810481 148810481 single base substitution G A intron_variant MELA-AU 4 148810565 148810565 single base substitution C T intron_variant MELA-AU 4 148811575 148811576 multiple base substitution (>=2bp and <=200bp) GG AA intron_variant MELA-AU 4 148811773 148811773 single base substitution T C intron_variant MELA-AU 4 148811907 148811907 single base substitution G A intron_variant MELA-AU 4 148812050 148812050 single base substitution G A intron_variant MELA-AU 4 148812423 148812423 single base substitution C T intron_variant MELA-AU 4 148812523 148812523 single base substitution C T intron_variant MELA-AU 4 148812596 148812596 single base substitution A T intron_variant MELA-AU 4 148813693 148813693 single base substitution G T intron_variant MELA-AU 4 148815051 148815051 single base substitution C T intron_variant MELA-AU 4 148815120 148815120 single base substitution G A intron_variant MELA-AU 4 148816791 148816791 single base substitution C T intron_variant MELA-AU 4 148817338 148817338 single base substitution C T intron_variant MELA-AU 4 148817561 148817561 single base substitution C T intron_variant MELA-AU 4 148817653 148817653 single base substitution C T intron_variant MELA-AU 4 148818138 148818138 single base substitution G A intron_variant MELA-AU 4 148818487 148818487 single base substitution C T intron_variant MELA-AU 4 148818606 148818606 single base substitution T A intron_variant MELA-AU 4 148819013 148819013 single base substitution T C intron_variant MELA-AU 4 148819545 148819545 single base substitution C T intron_variant MELA-AU 4 148819581 148819581 single base substitution C T intron_variant MELA-AU 4 148819693 148819693 single base substitution C T intron_variant MELA-AU 4 148819819 148819819 single base substitution C T intron_variant MELA-AU 4 148820358 148820358 single base substitution C T intron_variant MELA-AU 4 148820923 148820923 single base substitution C G intron_variant MELA-AU 4 148820983 148820983 single base substitution C T intron_variant MELA-AU 4 148821195 148821195 single base substitution C T intron_variant MELA-AU 4 148821604 148821604 single base substitution C T intron_variant MELA-AU 4 148822077 148822077 single base substitution C T intron_variant MELA-AU 4 148823100 148823100 single base substitution C T intron_variant MELA-AU 4 148823191 148823191 single base substitution C T intron_variant MELA-AU 4 148823515 148823515 single base substitution C T intron_variant MELA-AU 4 148823860 148823860 single base substitution C T intron_variant MELA-AU 4 148823885 148823885 single base substitution C T intron_variant MELA-AU 4 148824434 148824434 single base substitution C A intron_variant MELA-AU 4 148824520 148824520 single base substitution C T intron_variant MELA-AU 4 148824772 148824772 single base substitution C T intron_variant MELA-AU 4 148824828 148824828 single base substitution C T intron_variant MELA-AU 4 148825481 148825481 single base substitution C T intron_variant MELA-AU 4 148825695 148825695 single base substitution C T intron_variant MELA-AU 4 148825941 148825941 single base substitution C T intron_variant MELA-AU 4 148827261 148827261 single base substitution C T intron_variant MELA-AU 4 148827294 148827294 single base substitution C T intron_variant MELA-AU 4 148827573 148827573 single base substitution C T intron_variant MELA-AU 4 148827748 148827748 single base substitution G C intron_variant MELA-AU 4 148828850 148828850 single base substitution G A intron_variant MELA-AU 4 148828956 148828956 single base substitution C G intron_variant MELA-AU 4 148829193 148829193 single base substitution C T intron_variant MELA-AU 4 148829845 148829845 single base substitution C G intron_variant MELA-AU 4 148829969 148829969 single base substitution C T intron_variant MELA-AU 4 148829977 148829977 single base substitution G A intron_variant MELA-AU 4 148830146 148830146 single base substitution C T intron_variant MELA-AU 4 148830363 148830363 single base substitution G A intron_variant MELA-AU 4 148830650 148830650 single base substitution C T intron_variant MELA-AU 4 148830728 148830728 single base substitution G A intron_variant MELA-AU 4 148831418 148831418 single base substitution C T intron_variant MELA-AU 4 148831775 148831775 single base substitution T G intron_variant MELA-AU 4 148832083 148832083 single base substitution C T intron_variant MELA-AU 4 148832108 148832108 single base substitution C T intron_variant MELA-AU 4 148832617 148832617 single base substitution C T intron_variant MELA-AU 4 148832656 148832656 single base substitution G A intron_variant MELA-AU 4 148832748 148832748 single base substitution C T intron_variant MELA-AU 4 148832783 148832783 single base substitution G A intron_variant MELA-AU 4 148833262 148833262 single base substitution C T intron_variant MELA-AU 4 148834076 148834076 single base substitution G A intron_variant MELA-AU 4 148834153 148834153 single base substitution C T intron_variant MELA-AU 4 148834558 148834558 single base substitution C T intron_variant MELA-AU 4 148834598 148834598 single base substitution C T intron_variant MELA-AU 4 148834689 148834689 single base substitution C T intron_variant MELA-AU 4 148835322 148835322 single base substitution A T intron_variant MELA-AU 4 148836479 148836479 single base substitution C T intron_variant MELA-AU 4 148837336 148837336 single base substitution C T intron_variant MELA-AU 4 148837582 148837582 single base substitution C T intron_variant MELA-AU 4 148837857 148837857 single base substitution G A intron_variant MELA-AU 4 148837906 148837906 single base substitution C T intron_variant MELA-AU 4 148838071 148838071 single base substitution C T intron_variant MELA-AU 4 148838260 148838260 single base substitution G A intron_variant MELA-AU 4 148838272 148838272 single base substitution C T intron_variant MELA-AU 4 148838408 148838408 single base substitution C T intron_variant MELA-AU 4 148838774 148838774 single base substitution A G intron_variant MELA-AU 4 148839015 148839015 single base substitution A G intron_variant MELA-AU 4 148839394 148839394 single base substitution C T intron_variant MELA-AU 4 148840227 148840227 single base substitution G A intron_variant MELA-AU 4 148840758 148840758 single base substitution C T intron_variant MELA-AU 4 148840808 148840808 single base substitution C T intron_variant MELA-AU 4 148841051 148841051 single base substitution C T intron_variant MELA-AU 4 148841098 148841098 single base substitution G A intron_variant MELA-AU 4 148841450 148841451 multiple base substitution (>=2bp and <=200bp) CC TT intron_variant MELA-AU 4 148841603 148841603 single base substitution C T intron_variant MELA-AU 4 148841985 148841985 single base substitution G A intron_variant MELA-AU 4 148842897 148842897 single base substitution C G intron_variant MELA-AU 4 148842902 148842902 single base substitution C A intron_variant MELA-AU 4 148842921 148842921 single base substitution C T intron_variant MELA-AU 4 148843163 148843163 single base substitution C T intron_variant MELA-AU 4 148843444 148843444 single base substitution C T intron_variant MELA-AU 4 148843460 148843460 single base substitution C T intron_variant MELA-AU 4 148843509 148843509 single base substitution G A intron_variant MELA-AU 4 148844103 148844104 multiple base substitution (>=2bp and <=200bp) CC TT intron_variant MELA-AU 4 148844272 148844272 single base substitution T C intron_variant MELA-AU 4 148845632 148845632 single base substitution T C intron_variant MELA-AU 4 148845955 148845955 single base substitution C T intron_variant MELA-AU 4 148846369 148846370 deletion of <=200bp AC - intron_variant MELA-AU 4 148846666 148846667 multiple base substitution (>=2bp and <=200bp) CC TT intron_variant MELA-AU 4 148846747 148846747 single base substitution C T intron_variant MELA-AU 4 148846780 148846780 single base substitution G A intron_variant MELA-AU 4 148846971 148846971 single base substitution C T intron_variant MELA-AU 4 148847104 148847104 single base substitution C T intron_variant MELA-AU 4 148847419 148847419 single base substitution A C intron_variant MELA-AU 4 148847611 148847612 multiple base substitution (>=2bp and <=200bp) CC AT intron_variant MELA-AU 4 148848403 148848403 single base substitution C T intron_variant MELA-AU 4 148848491 148848491 single base substitution C T intron_variant MELA-AU 4 148848503 148848503 single base substitution C T intron_variant MELA-AU 4 148848554 148848554 single base substitution C T intron_variant MELA-AU 4 148848592 148848592 single base substitution A G intron_variant MELA-AU 4 148848646 148848646 single base substitution G A intron_variant MELA-AU 4 148849031 148849031 single base substitution C T intron_variant MELA-AU 4 148849307 148849307 single base substitution G A intron_variant MELA-AU 4 148849332 148849332 single base substitution C T intron_variant MELA-AU 4 148850364 148850364 single base substitution C T intron_variant MELA-AU 4 148851457 148851457 single base substitution C T intron_variant MELA-AU 4 148851718 148851718 single base substitution C T intron_variant MELA-AU 4 148851899 148851899 single base substitution C T intron_variant MELA-AU 4 148852213 148852213 single base substitution T C intron_variant MELA-AU 4 148852775 148852775 single base substitution C T intron_variant MELA-AU 4 148853075 148853075 single base substitution C T intron_variant MELA-AU 4 148853647 148853647 single base substitution C T intron_variant MELA-AU 4 148854231 148854231 single base substitution C T intron_variant MELA-AU 4 148854351 148854351 single base substitution C T intron_variant MELA-AU 4 148855087 148855087 single base substitution C T intron_variant MELA-AU 4 148855168 148855168 single base substitution C T intron_variant MELA-AU 4 148855225 148855225 single base substitution A T intron_variant MELA-AU 4 148855318 148855318 single base substitution C T intron_variant MELA-AU 4 148856922 148856922 single base substitution G A intron_variant MELA-AU 4 148857431 148857431 single base substitution C T intron_variant MELA-AU 4 148857998 148857998 single base substitution C T intron_variant MELA-AU 4 148858704 148858704 single base substitution C T intron_variant MELA-AU 4 148859044 148859044 single base substitution C T intron_variant MELA-AU 4 148859192 148859192 single base substitution C T intron_variant MELA-AU 4 148859381 148859381 single base substitution A G intron_variant MELA-AU 4 148859840 148859840 single base substitution C T intron_variant MELA-AU 4 148860109 148860109 single base substitution T A intron_variant MELA-AU 4 148860153 148860153 single base substitution C T intron_variant MELA-AU 4 148860185 148860186 multiple base substitution (>=2bp and <=200bp) CC TT intron_variant MELA-AU 4 148860373 148860373 single base substitution C T intron_variant MELA-AU 4 148860836 148860836 single base substitution C T intron_variant MELA-AU 4 148860971 148860971 single base substitution C T splice_region_variant MELA-AU 4 148860973 148860973 single base substitution T A splice_region_variant MELA-AU 4 148861077 148861077 single base substitution C T intron_variant MELA-AU 4 148861280 148861280 single base substitution T G intron_variant MELA-AU 4 148861970 148861970 single base substitution T G intron_variant MELA-AU 4 148862617 148862617 single base substitution C T intron_variant MELA-AU 4 148862617 148862617 single base substitution C T upstream_gene_variant MELA-AU 4 148863015 148863015 single base substitution T G intron_variant MELA-AU 4 148863015 148863015 single base substitution T G upstream_gene_variant MELA-AU 4 148863203 148863203 single base substitution C T intron_variant MELA-AU 4 148863203 148863203 single base substitution C T upstream_gene_variant MELA-AU 4 148863721 148863721 single base substitution T A intron_variant MELA-AU 4 148863721 148863721 single base substitution T A upstream_gene_variant MELA-AU 4 148863760 148863760 single base substitution C T intron_variant MELA-AU 4 148863760 148863760 single base substitution C T upstream_gene_variant MELA-AU 4 148863982 148863982 single base substitution G A intron_variant MELA-AU 4 148863982 148863982 single base substitution G A upstream_gene_variant MELA-AU 4 148864134 148864134 single base substitution A G intron_variant MELA-AU 4 148864134 148864134 single base substitution A G upstream_gene_variant MELA-AU 4 148864805 148864805 single base substitution A G intron_variant MELA-AU 4 148864805 148864805 single base substitution A G upstream_gene_variant MELA-AU 4 148864859 148864859 single base substitution C T intron_variant MELA-AU 4 148864859 148864859 single base substitution C T upstream_gene_variant MELA-AU 4 148865800 148865800 single base substitution A G intron_variant MELA-AU 4 148865800 148865800 single base substitution A G upstream_gene_variant MELA-AU 4 148865850 148865850 single base substitution T G intron_variant MELA-AU 4 148865850 148865850 single base substitution T G upstream_gene_variant MELA-AU 4 148865925 148865925 single base substitution C T intron_variant MELA-AU 4 148865925 148865925 single base substitution C T upstream_gene_variant MELA-AU 4 148866011 148866011 single base substitution C T intron_variant MELA-AU 4 148866011 148866011 single base substitution C T upstream_gene_variant MELA-AU 4 148866130 148866130 single base substitution C T intron_variant MELA-AU 4 148866130 148866130 single base substitution C T upstream_gene_variant MELA-AU 4 148866280 148866280 single base substitution C T intron_variant MELA-AU 4 148866280 148866280 single base substitution C T upstream_gene_variant MELA-AU 4 148866759 148866759 single base substitution A G intron_variant MELA-AU 4 148866759 148866759 single base substitution A G upstream_gene_variant MELA-AU 4 148867122 148867122 single base substitution G A intron_variant MELA-AU 4 148867122 148867122 single base substitution G A upstream_gene_variant MELA-AU 4 148867171 148867171 single base substitution C T intron_variant MELA-AU 4 148867171 148867171 single base substitution C T upstream_gene_variant MELA-AU 4 148868137 148868137 single base substitution C T intron_variant MELA-AU 4 148868930 148868930 single base substitution G A intron_variant MELA-AU 4 148868955 148868955 single base substitution T A intron_variant MELA-AU 4 148869086 148869086 single base substitution C T intron_variant MELA-AU 4 148869509 148869509 single base substitution C T intron_variant MELA-AU 4 148870071 148870071 single base substitution C T intron_variant MELA-AU 4 148870590 148870590 single base substitution C T intron_variant MELA-AU 4 148871195 148871195 single base substitution C T intron_variant MELA-AU 4 148871511 148871511 single base substitution C T intron_variant MELA-AU 4 148871626 148871626 single base substitution G T intron_variant MELA-AU 4 148871936 148871936 single base substitution C T intron_variant MELA-AU 4 148872589 148872589 single base substitution G A intron_variant MELA-AU 4 148872748 148872748 single base substitution T A intron_variant MELA-AU 4 148873094 148873094 single base substitution A C intron_variant MELA-AU 4 148873411 148873411 single base substitution C T intron_variant MELA-AU 4 148873413 148873413 single base substitution C T intron_variant MELA-AU 4 148874496 148874496 single base substitution T C intron_variant MELA-AU 4 148874523 148874523 single base substitution T C intron_variant MELA-AU 4 148874525 148874525 single base substitution C T intron_variant MELA-AU 4 148874545 148874545 single base substitution C T intron_variant MELA-AU 4 148874687 148874687 single base substitution G A intron_variant MELA-AU 4 148874891 148874891 single base substitution C T intron_variant MELA-AU 4 148875095 148875095 single base substitution G A intron_variant MELA-AU 4 148875124 148875124 single base substitution C T intron_variant MELA-AU 4 148875851 148875851 single base substitution T C intron_variant MELA-AU 4 148876310 148876310 single base substitution C T intron_variant MELA-AU 4 148876593 148876593 single base substitution C T intron_variant MELA-AU 4 148876736 148876736 single base substitution C T intron_variant MELA-AU 4 148877114 148877114 single base substitution C T intron_variant MELA-AU 4 148878265 148878265 single base substitution C T intron_variant MELA-AU 4 148878762 148878762 single base substitution A C intron_variant MELA-AU 4 148878931 148878931 single base substitution C T intron_variant MELA-AU 4 148879121 148879121 single base substitution G A intron_variant MELA-AU 4 148879367 148879367 single base substitution C T intron_variant MELA-AU 4 148879657 148879657 single base substitution C T intron_variant MELA-AU 4 148880260 148880260 single base substitution T C intron_variant MELA-AU 4 148880678 148880678 single base substitution C T intron_variant MELA-AU 4 148880689 148880689 single base substitution C T intron_variant MELA-AU 4 148881280 148881280 single base substitution G T intron_variant MELA-AU 4 148881306 148881306 single base substitution G A intron_variant MELA-AU 4 148881971 148881971 single base substitution G A intron_variant MELA-AU 4 148882338 148882338 single base substitution A G intron_variant MELA-AU 4 148883072 148883072 single base substitution C T intron_variant MELA-AU 4 148883149 148883149 single base substitution C T intron_variant MELA-AU 4 148883748 148883748 single base substitution T C intron_variant MELA-AU 4 148883782 148883782 single base substitution C T intron_variant MELA-AU 4 148884177 148884177 single base substitution C T intron_variant MELA-AU 4 148884220 148884220 single base substitution C T intron_variant MELA-AU 4 148884287 148884287 single base substitution A G intron_variant MELA-AU 4 148884448 148884448 single base substitution C T intron_variant MELA-AU 4 148884596 148884596 single base substitution C T intron_variant MELA-AU 4 148885045 148885045 single base substitution C T intron_variant MELA-AU 4 148885446 148885446 single base substitution C T intron_variant MELA-AU 4 148885684 148885684 single base substitution C A intron_variant MELA-AU 4 148886015 148886015 single base substitution T A intron_variant MELA-AU 4 148886365 148886365 single base substitution G A intron_variant MELA-AU 4 148886593 148886593 single base substitution C A intron_variant MELA-AU 4 148887100 148887100 single base substitution A T intron_variant MELA-AU 4 148887803 148887803 single base substitution C G intron_variant MELA-AU 4 148888034 148888034 single base substitution C T intron_variant MELA-AU 4 148888230 148888230 single base substitution C T intron_variant MELA-AU 4 148889102 148889102 single base substitution A G intron_variant MELA-AU 4 148889481 148889481 single base substitution C T intron_variant MELA-AU 4 148889595 148889595 single base substitution C T intron_variant MELA-AU 4 148889805 148889805 single base substitution C T intron_variant MELA-AU 4 148889968 148889968 single base substitution C T intron_variant MELA-AU 4 148890767 148890767 single base substitution T A intron_variant MELA-AU 4 148891631 148891631 single base substitution C T intron_variant MELA-AU 4 148891691 148891691 single base substitution C T intron_variant MELA-AU 4 148891864 148891864 single base substitution C T intron_variant MELA-AU 4 148892036 148892036 single base substitution C T intron_variant MELA-AU 4 148892297 148892297 single base substitution T A intron_variant MELA-AU 4 148892369 148892369 single base substitution C T intron_variant MELA-AU 4 148892876 148892876 single base substitution G A intron_variant MELA-AU 4 148892928 148892928 single base substitution A G intron_variant MELA-AU 4 148892994 148892994 single base substitution G A intron_variant MELA-AU 4 148893497 148893497 single base substitution C T intron_variant MELA-AU 4 148894147 148894147 single base substitution C T intron_variant MELA-AU 4 148895279 148895279 single base substitution G A intron_variant MELA-AU 4 148895514 148895514 single base substitution C T intron_variant MELA-AU 4 148896116 148896116 single base substitution C T intron_variant MELA-AU 4 148896279 148896279 single base substitution C T intron_variant MELA-AU 4 148896426 148896426 single base substitution C T intron_variant MELA-AU 4 148896557 148896557 single base substitution C T intron_variant MELA-AU 4 148896798 148896798 single base substitution G A intron_variant MELA-AU 4 148897457 148897457 single base substitution T C intron_variant MELA-AU 4 148897620 148897620 single base substitution C T intron_variant MELA-AU 4 148897856 148897856 single base substitution T C intron_variant MELA-AU 4 148898181 148898181 single base substitution G A intron_variant MELA-AU 4 148898213 148898213 single base substitution C T intron_variant MELA-AU 4 148898595 148898595 single base substitution C T intron_variant MELA-AU 4 148899081 148899081 single base substitution C T intron_variant MELA-AU 4 148899159 148899159 single base substitution T C intron_variant MELA-AU 4 148899551 148899551 single base substitution T G intron_variant MELA-AU 4 148899793 148899793 single base substitution C T intron_variant MELA-AU 4 148900470 148900470 single base substitution C T intron_variant MELA-AU 4 148900470 148900471 multiple base substitution (>=2bp and <=200bp) CC TT intron_variant MELA-AU 4 148900549 148900549 single base substitution C T intron_variant MELA-AU 4 148901161 148901161 single base substitution C T intron_variant MELA-AU 4 148901645 148901645 single base substitution T A intron_variant MELA-AU 4 148902133 148902133 single base substitution C T intron_variant MELA-AU 4 148902169 148902169 single base substitution T A intron_variant MELA-AU 4 148902923 148902923 single base substitution C T intron_variant MELA-AU 4 148903829 148903829 single base substitution G A intron_variant MELA-AU 4 148903904 148903904 single base substitution C T intron_variant MELA-AU 4 148904105 148904105 single base substitution C T intron_variant MELA-AU 4 148904587 148904588 multiple base substitution (>=2bp and <=200bp) CC TT intron_variant MELA-AU 4 148905790 148905790 single base substitution C T intron_variant MELA-AU 4 148906022 148906023 multiple base substitution (>=2bp and <=200bp) CC TT intron_variant MELA-AU 4 148906091 148906091 single base substitution C T intron_variant MELA-AU 4 148907613 148907613 single base substitution C T intron_variant MELA-AU 4 148907679 148907680 multiple base substitution (>=2bp and <=200bp) CC TT intron_variant MELA-AU 4 148908500 148908500 single base substitution C T intron_variant MELA-AU 4 148908505 148908505 single base substitution C T intron_variant MELA-AU 4 148908516 148908516 single base substitution C T intron_variant MELA-AU 4 148908568 148908568 single base substitution C T intron_variant MELA-AU 4 148909121 148909121 single base substitution A G intron_variant MELA-AU 4 148909550 148909550 single base substitution C T intron_variant MELA-AU 4 148909638 148909638 single base substitution C T intron_variant MELA-AU 4 148909645 148909645 single base substitution C T intron_variant MELA-AU 4 148910120 148910120 single base substitution C T intron_variant MELA-AU 4 148910177 148910177 single base substitution C T intron_variant MELA-AU 4 148911176 148911176 single base substitution C T intron_variant MELA-AU 4 148911722 148911722 single base substitution G A intron_variant MELA-AU 4 148912032 148912032 single base substitution T G intron_variant MELA-AU 4 148912539 148912539 single base substitution T C intron_variant MELA-AU 4 148912688 148912688 single base substitution G A intron_variant MELA-AU 4 148913495 148913495 single base substitution C T intron_variant MELA-AU 4 148913511 148913511 single base substitution C T intron_variant MELA-AU 4 148913953 148913953 single base substitution C T intron_variant MELA-AU 4 148915160 148915160 single base substitution C G intron_variant MELA-AU 4 148915180 148915180 single base substitution G A intron_variant MELA-AU 4 148915538 148915538 single base substitution A T intron_variant MELA-AU 4 148915711 148915711 single base substitution A T intron_variant MELA-AU 4 148917298 148917298 single base substitution C T intron_variant MELA-AU 4 148917369 148917369 single base substitution C T intron_variant MELA-AU 4 148917698 148917698 single base substitution C T intron_variant MELA-AU 4 148917952 148917952 single base substitution T G intron_variant MELA-AU 4 148918533 148918533 single base substitution T G intron_variant MELA-AU 4 148918656 148918656 single base substitution C T intron_variant MELA-AU 4 148918762 148918762 single base substitution G A intron_variant MELA-AU 4 148919242 148919242 single base substitution C T intron_variant MELA-AU 4 148919571 148919571 single base substitution A T intron_variant MELA-AU 4 148920752 148920752 single base substitution C T intron_variant MELA-AU 4 148920851 148920851 single base substitution C T intron_variant MELA-AU 4 148921065 148921065 single base substitution C T intron_variant MELA-AU 4 148921267 148921267 single base substitution C T intron_variant MELA-AU 4 148921472 148921472 single base substitution T C intron_variant MELA-AU 4 148921607 148921607 single base substitution G A intron_variant MELA-AU 4 148921873 148921873 single base substitution C T intron_variant MELA-AU 4 148921970 148921970 single base substitution G C intron_variant MELA-AU 4 148922331 148922331 single base substitution C T intron_variant MELA-AU 4 148923389 148923389 single base substitution C T intron_variant MELA-AU 4 148923406 148923406 single base substitution G A intron_variant MELA-AU 4 148923689 148923689 single base substitution G A intron_variant MELA-AU 4 148924450 148924450 single base substitution T C intron_variant MELA-AU 4 148924904 148924904 single base substitution C T intron_variant MELA-AU 4 148925411 148925411 single base substitution A G intron_variant MELA-AU 4 148926940 148926940 single base substitution G A intron_variant MELA-AU 4 148928906 148928907 deletion of <=200bp TG - intron_variant MELA-AU 4 148930060 148930060 single base substitution T G intron_variant MELA-AU 4 148930118 148930118 single base substitution G A intron_variant MELA-AU 4 148930125 148930125 single base substitution C T intron_variant MELA-AU 4 148930321 148930321 single base substitution C T intron_variant MELA-AU 4 148930997 148930997 single base substitution C T intron_variant MELA-AU 4 148931165 148931165 single base substitution C T intron_variant MELA-AU 4 148931447 148931447 single base substitution T A intron_variant MELA-AU 4 148931738 148931738 single base substitution C T intron_variant MELA-AU 4 148932095 148932095 single base substitution C T intron_variant MELA-AU 4 148932142 148932142 single base substitution C T intron_variant MELA-AU 4 148932831 148932831 single base substitution G A intron_variant MELA-AU 4 148932949 148932949 single base substitution G A intron_variant MELA-AU 4 148933128 148933128 single base substitution C T intron_variant MELA-AU 4 148933242 148933242 single base substitution C A intron_variant MELA-AU 4 148933486 148933486 single base substitution C T intron_variant MELA-AU 4 148933562 148933562 single base substitution C T intron_variant MELA-AU 4 148934056 148934056 single base substitution G A intron_variant MELA-AU 4 148934588 148934588 single base substitution C T intron_variant MELA-AU 4 148935455 148935455 single base substitution G A intron_variant MELA-AU 4 148936078 148936078 single base substitution C T intron_variant MELA-AU 4 148936675 148936675 single base substitution C T intron_variant MELA-AU 4 148937142 148937142 single base substitution G A intron_variant MELA-AU 4 148937868 148937868 single base substitution T A intron_variant MELA-AU 4 148938492 148938492 single base substitution G A intron_variant MELA-AU 4 148938541 148938541 single base substitution C T intron_variant MELA-AU 4 148939062 148939062 single base substitution G A intron_variant MELA-AU 4 148940902 148940902 single base substitution T A intron_variant MELA-AU 4 148940902 148940902 single base substitution T A upstream_gene_variant MELA-AU 4 148941366 148941366 single base substitution C T intron_variant MELA-AU 4 148941366 148941366 single base substitution C T upstream_gene_variant MELA-AU 4 148941449 148941449 single base substitution C T intron_variant MELA-AU 4 148941449 148941449 single base substitution C T upstream_gene_variant MELA-AU 4 148941599 148941599 single base substitution C T intron_variant MELA-AU 4 148941599 148941599 single base substitution C T upstream_gene_variant MELA-AU 4 148941748 148941748 single base substitution C G intron_variant MELA-AU 4 148941748 148941748 single base substitution C G upstream_gene_variant MELA-AU 4 148942479 148942479 single base substitution G A intron_variant MELA-AU 4 148942479 148942479 single base substitution G A upstream_gene_variant MELA-AU 4 148943247 148943247 single base substitution G T intron_variant MELA-AU 4 148943247 148943247 single base substitution G T upstream_gene_variant MELA-AU 4 148944219 148944219 single base substitution G A exon_variant MELA-AU 4 148944219 148944219 single base substitution G A intron_variant MELA-AU 4 148944272 148944272 single base substitution C T exon_variant MELA-AU 4 148944272 148944272 single base substitution C T intron_variant MELA-AU 4 148944420 148944420 single base substitution C T exon_variant MELA-AU 4 148944420 148944420 single base substitution C T missense_variant R224W 670C>T MELA-AU 4 148944420 148944420 single base substitution C T missense_variant R252W 754C>T MELA-AU 4 148944420 148944420 single base substitution C T missense_variant R575W 1723C>T MELA-AU 4 148945332 148945332 single base substitution C T intron_variant MELA-AU 4 148945458 148945458 single base substitution G A intron_variant MELA-AU 4 148945478 148945478 single base substitution C T intron_variant MELA-AU 4 148945760 148945760 single base substitution T A intron_variant MELA-AU 4 148945966 148945966 single base substitution C T intron_variant MELA-AU 4 148946200 148946200 single base substitution C T intron_variant MELA-AU 4 148946361 148946361 single base substitution C T intron_variant MELA-AU 4 148946390 148946390 single base substitution G A intron_variant MELA-AU 4 148946717 148946717 single base substitution C T intron_variant MELA-AU 4 148947082 148947082 single base substitution G A intron_variant MELA-AU 4 148947619 148947619 single base substitution C A intron_variant MELA-AU 4 148948024 148948024 single base substitution C T intron_variant MELA-AU 4 148948718 148948718 single base substitution G A intron_variant MELA-AU 4 148949450 148949450 single base substitution G A intron_variant MELA-AU 4 148949787 148949787 single base substitution G A intron_variant MELA-AU 4 148950107 148950107 single base substitution C T intron_variant MELA-AU 4 148950135 148950135 single base substitution C T intron_variant MELA-AU 4 148950414 148950414 single base substitution T C intron_variant MELA-AU 4 148950679 148950679 single base substitution C T intron_variant MELA-AU 4 148950814 148950814 single base substitution C T intron_variant MELA-AU 4 148950838 148950838 single base substitution C T intron_variant MELA-AU 4 148951042 148951042 single base substitution C T intron_variant MELA-AU 4 148951147 148951147 single base substitution C T intron_variant MELA-AU 4 148951250 148951250 single base substitution C T intron_variant MELA-AU 4 148952013 148952013 single base substitution G A intron_variant MELA-AU 4 148952193 148952193 single base substitution G A intron_variant MELA-AU 4 148952393 148952393 single base substitution C T intron_variant MELA-AU 4 148952929 148952929 single base substitution T A intron_variant MELA-AU 4 148953308 148953308 single base substitution G A intron_variant MELA-AU 4 148953968 148953968 single base substitution C T intron_variant MELA-AU 4 148953997 148953997 single base substitution C T intron_variant MELA-AU 4 148954681 148954681 single base substitution A G intron_variant MELA-AU 4 148954707 148954707 single base substitution C T intron_variant MELA-AU 4 148954905 148954905 single base substitution G A intron_variant MELA-AU 4 148954916 148954916 single base substitution C T intron_variant MELA-AU 4 148955071 148955071 single base substitution C T intron_variant MELA-AU 4 148955379 148955379 single base substitution C T intron_variant MELA-AU 4 148955744 148955744 single base substitution T G intron_variant MELA-AU 4 148955958 148955958 single base substitution G T intron_variant MELA-AU 4 148956194 148956194 single base substitution C T intron_variant MELA-AU 4 148957029 148957029 single base substitution C A intron_variant MELA-AU 4 148958106 148958106 single base substitution C A intron_variant MELA-AU 4 148958183 148958183 single base substitution C T intron_variant MELA-AU 4 148958376 148958376 single base substitution C T intron_variant MELA-AU 4 148958807 148958807 single base substitution G A intron_variant MELA-AU 4 148958812 148958812 single base substitution C T intron_variant MELA-AU 4 148959024 148959024 single base substitution C T intron_variant MELA-AU 4 148959109 148959109 single base substitution T G intron_variant MELA-AU 4 148959517 148959517 single base substitution G A intron_variant MELA-AU 4 148960561 148960561 single base substitution C T intron_variant MELA-AU 4 148961218 148961218 single base substitution C T intron_variant MELA-AU 4 148961336 148961336 single base substitution C T intron_variant MELA-AU 4 148961441 148961441 single base substitution C T intron_variant MELA-AU 4 148961607 148961607 single base substitution C T intron_variant MELA-AU 4 148961673 148961673 single base substitution C T intron_variant MELA-AU 4 148961932 148961932 single base substitution G A intron_variant MELA-AU 4 148962294 148962294 single base substitution C T intron_variant MELA-AU 4 148962309 148962309 single base substitution C T intron_variant MELA-AU 4 148962312 148962312 single base substitution C T intron_variant MELA-AU 4 148962683 148962683 single base substitution G A intron_variant MELA-AU 4 148963140 148963140 single base substitution C T intron_variant MELA-AU 4 148963305 148963305 single base substitution C T intron_variant MELA-AU 4 148964065 148964065 single base substitution C T intron_variant MELA-AU 4 148964094 148964094 single base substitution C T intron_variant MELA-AU 4 148965315 148965315 single base substitution T C intron_variant MELA-AU 4 148965455 148965455 single base substitution C T intron_variant MELA-AU 4 148965463 148965463 single base substitution T C intron_variant MELA-AU 4 148965571 148965571 single base substitution G A intron_variant MELA-AU 4 148965983 148965983 single base substitution C T intron_variant MELA-AU 4 148966600 148966600 single base substitution G A intron_variant MELA-AU 4 148967058 148967058 single base substitution C T intron_variant MELA-AU 4 148967232 148967232 single base substitution C T intron_variant MELA-AU 4 148967285 148967285 single base substitution G A intron_variant MELA-AU 4 148967287 148967287 single base substitution G A intron_variant MELA-AU 4 148967991 148967991 insertion of <=200bp - T intron_variant MELA-AU 4 148968027 148968027 single base substitution C T intron_variant MELA-AU 4 148968104 148968104 single base substitution C T exon_variant MELA-AU 4 148968104 148968104 single base substitution C T synonymous_variant S292S 876C>T MELA-AU 4 148968104 148968104 single base substitution C T synonymous_variant S320S 960C>T MELA-AU 4 148968104 148968104 single base substitution C T synonymous_variant S643S 1929C>T MELA-AU 4 148968234 148968234 single base substitution G T intron_variant MELA-AU 4 148968490 148968490 single base substitution C A intron_variant MELA-AU 4 148968628 148968628 single base substitution C T intron_variant MELA-AU 4 148968959 148968959 single base substitution C T intron_variant MELA-AU 4 148968976 148968976 single base substitution T G intron_variant MELA-AU 4 148969571 148969571 single base substitution C T intron_variant MELA-AU 4 148969627 148969627 single base substitution C T intron_variant MELA-AU 4 148969683 148969683 single base substitution C T intron_variant MELA-AU 4 148969942 148969942 single base substitution C T intron_variant MELA-AU 4 148970226 148970226 single base substitution T C intron_variant MELA-AU 4 148970414 148970414 single base substitution C T intron_variant MELA-AU 4 148970488 148970488 single base substitution C T intron_variant MELA-AU 4 148970534 148970534 single base substitution G A intron_variant MELA-AU 4 148971124 148971124 single base substitution T C intron_variant MELA-AU 4 148971189 148971189 single base substitution C T intron_variant MELA-AU 4 148971448 148971448 single base substitution C T intron_variant MELA-AU 4 148971555 148971555 single base substitution C T intron_variant MELA-AU 4 148971962 148971962 single base substitution C T intron_variant MELA-AU 4 148972003 148972003 single base substitution C T intron_variant MELA-AU 4 148972069 148972069 single base substitution T G intron_variant MELA-AU 4 148972306 148972306 single base substitution C T intron_variant MELA-AU 4 148972520 148972520 single base substitution C T intron_variant MELA-AU 4 148972750 148972750 single base substitution C T intron_variant MELA-AU 4 148972854 148972854 single base substitution C T intron_variant MELA-AU 4 148973433 148973433 single base substitution C T intron_variant MELA-AU 4 148973604 148973604 single base substitution A C intron_variant MELA-AU 4 148973687 148973687 single base substitution C T intron_variant MELA-AU 4 148973720 148973720 single base substitution T A intron_variant MELA-AU 4 148973960 148973961 multiple base substitution (>=2bp and <=200bp) GG AA intron_variant MELA-AU 4 148974447 148974447 single base substitution C T intron_variant MELA-AU 4 148974667 148974667 single base substitution G A intron_variant MELA-AU 4 148975349 148975349 single base substitution C T intron_variant MELA-AU 4 148975355 148975355 single base substitution C G intron_variant MELA-AU 4 148975679 148975679 single base substitution C T intron_variant MELA-AU 4 148975926 148975926 single base substitution A C intron_variant MELA-AU 4 148976051 148976051 single base substitution C T intron_variant MELA-AU 4 148976415 148976415 single base substitution C T intron_variant MELA-AU 4 148976416 148976416 single base substitution C T intron_variant MELA-AU 4 148976555 148976555 single base substitution C T intron_variant MELA-AU 4 148976568 148976568 single base substitution G A intron_variant MELA-AU 4 148977299 148977299 single base substitution C T intron_variant MELA-AU 4 148977624 148977624 single base substitution A T intron_variant MELA-AU 4 148977718 148977718 single base substitution C T intron_variant MELA-AU 4 148977923 148977923 single base substitution A T intron_variant MELA-AU 4 148978266 148978266 single base substitution C T intron_variant MELA-AU 4 148978839 148978839 single base substitution C T intron_variant MELA-AU 4 148978842 148978842 single base substitution C T intron_variant MELA-AU 4 148979466 148979466 single base substitution C T intron_variant MELA-AU 4 148980033 148980033 single base substitution A G intron_variant MELA-AU 4 148980256 148980256 single base substitution C T intron_variant MELA-AU 4 148980526 148980526 single base substitution C T intron_variant MELA-AU 4 148980583 148980583 single base substitution C T intron_variant MELA-AU 4 148980677 148980677 single base substitution C T intron_variant MELA-AU 4 148981019 148981019 single base substitution C T intron_variant MELA-AU 4 148981061 148981061 single base substitution C T intron_variant MELA-AU 4 148981655 148981655 single base substitution C T intron_variant MELA-AU 4 148981655 148981655 single base substitution C T upstream_gene_variant MELA-AU 4 148981716 148981716 single base substitution C T intron_variant MELA-AU 4 148981716 148981716 single base substitution C T upstream_gene_variant MELA-AU 4 148981792 148981792 single base substitution A T intron_variant MELA-AU 4 148981792 148981792 single base substitution A T upstream_gene_variant MELA-AU 4 148982161 148982161 single base substitution G A intron_variant MELA-AU 4 148982161 148982161 single base substitution G A upstream_gene_variant MELA-AU 4 148982198 148982198 single base substitution C T intron_variant MELA-AU 4 148982198 148982198 single base substitution C T upstream_gene_variant MELA-AU 4 148982199 148982199 single base substitution C T intron_variant MELA-AU 4 148982199 148982199 single base substitution C T upstream_gene_variant MELA-AU 4 148983522 148983523 multiple base substitution (>=2bp and <=200bp) CC TT intron_variant MELA-AU 4 148983522 148983523 multiple base substitution (>=2bp and <=200bp) CC TT upstream_gene_variant MELA-AU 4 148983734 148983734 single base substitution T A intron_variant MELA-AU 4 148983734 148983734 single base substitution T A upstream_gene_variant MELA-AU 4 148984445 148984445 single base substitution C T downstream_gene_variant MELA-AU 4 148984445 148984445 single base substitution C T exon_variant MELA-AU 4 148984445 148984445 single base substitution C T intron_variant MELA-AU 4 148984445 148984445 single base substitution C T missense_variant P725L 2174C>T MELA-AU 4 148984445 148984445 single base substitution C T upstream_gene_variant MELA-AU 4 148984724 148984724 single base substitution T C downstream_gene_variant MELA-AU 4 148984724 148984724 single base substitution T C intron_variant MELA-AU 4 148984724 148984724 single base substitution T C upstream_gene_variant MELA-AU 4 148984833 148984833 single base substitution C T downstream_gene_variant MELA-AU 4 148984833 148984833 single base substitution C T intron_variant MELA-AU 4 148984833 148984833 single base substitution C T upstream_gene_variant MELA-AU 4 148984914 148984914 single base substitution C T downstream_gene_variant MELA-AU 4 148984914 148984914 single base substitution C T intron_variant MELA-AU 4 148984914 148984914 single base substitution C T upstream_gene_variant MELA-AU 4 148984976 148984976 single base substitution C T downstream_gene_variant MELA-AU 4 148984976 148984976 single base substitution C T intron_variant MELA-AU 4 148984976 148984976 single base substitution C T upstream_gene_variant MELA-AU 4 148985460 148985460 single base substitution C T downstream_gene_variant MELA-AU 4 148985460 148985460 single base substitution C T intron_variant MELA-AU 4 148985460 148985460 single base substitution C T upstream_gene_variant MELA-AU 4 148985577 148985577 single base substitution C T downstream_gene_variant MELA-AU 4 148985577 148985577 single base substitution C T exon_variant MELA-AU 4 148985577 148985577 single base substitution C T missense_variant R329W 985C>T MELA-AU 4 148985577 148985577 single base substitution C T missense_variant R357W 1069C>T MELA-AU 4 148985577 148985577 single base substitution C T missense_variant R731W 2191C>T MELA-AU 4 148985577 148985577 single base substitution C T upstream_gene_variant MELA-AU 4 148985679 148985679 single base substitution C T downstream_gene_variant MELA-AU 4 148985679 148985679 single base substitution C T intron_variant MELA-AU 4 148985679 148985679 single base substitution C T upstream_gene_variant MELA-AU 4 148985751 148985751 single base substitution C T downstream_gene_variant MELA-AU 4 148985751 148985751 single base substitution C T intron_variant MELA-AU 4 148985751 148985751 single base substitution C T upstream_gene_variant MELA-AU 4 148985767 148985767 single base substitution C T downstream_gene_variant MELA-AU 4 148985767 148985767 single base substitution C T intron_variant MELA-AU 4 148985767 148985767 single base substitution C T upstream_gene_variant MELA-AU 4 148986030 148986030 single base substitution C T downstream_gene_variant MELA-AU 4 148986030 148986030 single base substitution C T intron_variant MELA-AU 4 148986030 148986030 single base substitution C T upstream_gene_variant MELA-AU 4 148986032 148986032 single base substitution G A downstream_gene_variant MELA-AU 4 148986032 148986032 single base substitution G A intron_variant MELA-AU 4 148986032 148986032 single base substitution G A upstream_gene_variant MELA-AU 4 148986385 148986385 single base substitution G A downstream_gene_variant MELA-AU 4 148986385 148986385 single base substitution G A intron_variant MELA-AU 4 148986385 148986385 single base substitution G A upstream_gene_variant MELA-AU 4 148986675 148986675 single base substitution C T downstream_gene_variant MELA-AU 4 148986675 148986675 single base substitution C T exon_variant MELA-AU 4 148986675 148986675 single base substitution C T intron_variant MELA-AU 4 148986785 148986785 single base substitution C T downstream_gene_variant MELA-AU 4 148986785 148986785 single base substitution C T exon_variant MELA-AU 4 148986785 148986785 single base substitution C T intron_variant MELA-AU 4 148987269 148987269 single base substitution C T downstream_gene_variant MELA-AU 4 148987269 148987269 single base substitution C T intron_variant MELA-AU 4 148987418 148987418 single base substitution C T downstream_gene_variant MELA-AU 4 148987418 148987418 single base substitution C T intron_variant MELA-AU 4 148987429 148987429 single base substitution C T downstream_gene_variant MELA-AU 4 148987429 148987429 single base substitution C T intron_variant MELA-AU 4 148987528 148987528 single base substitution A G downstream_gene_variant MELA-AU 4 148987528 148987528 single base substitution A G intron_variant MELA-AU 4 148988144 148988144 single base substitution C T downstream_gene_variant MELA-AU 4 148988144 148988144 single base substitution C T intron_variant MELA-AU 4 148988186 148988186 single base substitution C T downstream_gene_variant MELA-AU 4 148988186 148988186 single base substitution C T intron_variant MELA-AU 4 148988197 148988197 single base substitution C T downstream_gene_variant MELA-AU 4 148988197 148988197 single base substitution C T intron_variant MELA-AU 4 148988845 148988845 single base substitution C T downstream_gene_variant MELA-AU 4 148988845 148988845 single base substitution C T intron_variant MELA-AU 4 148988899 148988899 single base substitution G A downstream_gene_variant MELA-AU 4 148988899 148988899 single base substitution G A intron_variant MELA-AU 4 148989132 148989132 single base substitution C T downstream_gene_variant MELA-AU 4 148989132 148989132 single base substitution C T intron_variant MELA-AU 4 148989213 148989213 single base substitution T A downstream_gene_variant MELA-AU 4 148989213 148989213 single base substitution T A intron_variant MELA-AU 4 148990240 148990241 multiple base substitution (>=2bp and <=200bp) GG AA intron_variant MELA-AU 4 148990449 148990449 single base substitution C T intron_variant MELA-AU 4 148990629 148990629 single base substitution C T intron_variant MELA-AU 4 148990701 148990701 single base substitution C T intron_variant MELA-AU 4 148990929 148990929 single base substitution C T intron_variant MELA-AU 4 148990973 148990973 single base substitution C T intron_variant MELA-AU 4 148991025 148991025 single base substitution C T intron_variant MELA-AU 4 148991597 148991597 single base substitution G A intron_variant MELA-AU 4 148991653 148991653 single base substitution C T intron_variant MELA-AU 4 148991888 148991888 single base substitution C T intron_variant MELA-AU 4 148992120 148992120 single base substitution G A intron_variant MELA-AU 4 148992227 148992227 single base substitution C T intron_variant MELA-AU 4 148992436 148992436 single base substitution C T intron_variant MELA-AU 4 148992897 148992909 deletion of <=200bp GGGGCCGGACTCT - intron_variant MELA-AU 4 148992908 148992908 single base substitution C T intron_variant MELA-AU 4 148993041 148993041 single base substitution C T intron_variant MELA-AU 4 148993880 148993880 single base substitution C T 3_prime_UTR_variant MELA-AU 4 148993880 148993880 single base substitution C T downstream_gene_variant MELA-AU 4 148993880 148993880 single base substitution C T exon_variant MELA-AU 4 148993961 148993961 single base substitution C T downstream_gene_variant MELA-AU 4 148994284 148994284 single base substitution C T downstream_gene_variant MELA-AU 4 148994903 148994903 single base substitution G A downstream_gene_variant MELA-AU 4 148994964 148994965 multiple base substitution (>=2bp and <=200bp) CC TT downstream_gene_variant MELA-AU 4 148995076 148995076 single base substitution C T downstream_gene_variant MELA-AU 4 148995312 148995312 single base substitution C T downstream_gene_variant MELA-AU 4 148995373 148995373 single base substitution C T downstream_gene_variant MELA-AU 4 148995385 148995385 single base substitution C T downstream_gene_variant MELA-AU 4 148995503 148995504 multiple base substitution (>=2bp and <=200bp) GG TA downstream_gene_variant MELA-AU 4 148995560 148995560 single base substitution C T downstream_gene_variant MELA-AU 4 148995811 148995811 single base substitution T C downstream_gene_variant MELA-AU 4 148995824 148995824 single base substitution G A downstream_gene_variant MELA-AU 4 148996426 148996426 single base substitution C T downstream_gene_variant MELA-AU 4 148996486 148996486 single base substitution C T downstream_gene_variant MELA-AU 4 148996703 148996703 single base substitution C T downstream_gene_variant MELA-AU 4 148996717 148996717 single base substitution G A downstream_gene_variant MELA-AU 4 148996734 148996734 single base substitution C T downstream_gene_variant MELA-AU 4 148996739 148996739 single base substitution C T downstream_gene_variant MELA-AU 4 148997178 148997178 single base substitution G A downstream_gene_variant MELA-AU 4 148997482 148997483 multiple base substitution (>=2bp and <=200bp) CC TT downstream_gene_variant MELA-AU 4 148997862 148997862 single base substitution C T downstream_gene_variant MELA-AU 4 148997972 148997972 single base substitution C T downstream_gene_variant MELA-AU 4 148998076 148998076 single base substitution C T downstream_gene_variant MELA-AU 4 148998107 148998107 single base substitution C T downstream_gene_variant MELA-AU 4 148998427 148998427 single base substitution G A downstream_gene_variant ORCA-IN 4 148653488 148653488 single base substitution C A exon_variant ORCA-IN 4 148653488 148653488 single base substitution C A stop_gained Y12* 36C>A ORCA-IN 4 148659085 148659085 single base substitution C T intron_variant ORCA-IN 4 148691855 148691855 single base substitution C T intron_variant ORCA-IN 4 148693092 148693092 single base substitution G A intron_variant ORCA-IN 4 148693636 148693636 single base substitution G A intron_variant ORCA-IN 4 148704705 148704706 deletion of <=200bp AC - intron_variant ORCA-IN 4 148711452 148711452 single base substitution T G intron_variant ORCA-IN 4 148715382 148715382 single base substitution G C intron_variant ORCA-IN 4 148717744 148717744 single base substitution C T intron_variant ORCA-IN 4 148738592 148738592 single base substitution A G intron_variant ORCA-IN 4 148753508 148753508 deletion of <=200bp A - intron_variant ORCA-IN 4 148777419 148777419 single base substitution T A intron_variant ORCA-IN 4 148777419 148777419 single base substitution T A upstream_gene_variant ORCA-IN 4 148786078 148786078 single base substitution G C exon_variant ORCA-IN 4 148786078 148786078 single base substitution G C missense_variant E190Q 568G>C ORCA-IN 4 148793561 148793561 single base substitution T C intron_variant ORCA-IN 4 148797924 148797924 single base substitution C T intron_variant ORCA-IN 4 148834259 148834259 single base substitution C T exon_variant ORCA-IN 4 148834259 148834259 single base substitution C T synonymous_variant I399I 1197C>T ORCA-IN 4 148834259 148834259 single base substitution C T synonymous_variant I48I 144C>T ORCA-IN 4 148834259 148834259 single base substitution C T synonymous_variant I76I 228C>T ORCA-IN 4 148884846 148884846 single base substitution C T intron_variant ORCA-IN 4 148900567 148900567 single base substitution A G intron_variant ORCA-IN 4 148905893 148905893 single base substitution C T intron_variant ORCA-IN 4 148926745 148926745 single base substitution G C intron_variant ORCA-IN 4 148948196 148948196 single base substitution G A intron_variant ORCA-IN 4 148991112 148991112 single base substitution A G intron_variant ORCA-IN 4 148996700 148996700 single base substitution C A downstream_gene_variant OV-AU 4 148651039 148651039 single base substitution C G upstream_gene_variant OV-AU 4 148651954 148651954 single base substitution C A upstream_gene_variant OV-AU 4 148665156 148665156 single base substitution A T intron_variant OV-AU 4 148666143 148666143 single base substitution G T intron_variant OV-AU 4 148666474 148666474 single base substitution C G intron_variant OV-AU 4 148666673 148666673 single base substitution C T intron_variant OV-AU 4 148668345 148668345 single base substitution C G intron_variant OV-AU 4 148668814 148668814 single base substitution G A intron_variant OV-AU 4 148668815 148668815 single base substitution A T intron_variant OV-AU 4 148669461 148669461 single base substitution C T intron_variant OV-AU 4 148674207 148674207 single base substitution C G intron_variant OV-AU 4 148675120 148675120 single base substitution A T intron_variant OV-AU 4 148692896 148692896 single base substitution C G intron_variant OV-AU 4 148695557 148695557 single base substitution C A intron_variant OV-AU 4 148696098 148696098 single base substitution C T intron_variant OV-AU 4 148712673 148712673 single base substitution G A intron_variant OV-AU 4 148712687 148712687 single base substitution G A intron_variant OV-AU 4 148713473 148713473 single base substitution C T intron_variant OV-AU 4 148722546 148722546 single base substitution T C intron_variant OV-AU 4 148726234 148726234 single base substitution C G intron_variant OV-AU 4 148737657 148737657 single base substitution C G intron_variant OV-AU 4 148742270 148742270 single base substitution G A intron_variant OV-AU 4 148748201 148748201 single base substitution C G intron_variant OV-AU 4 148760301 148760301 single base substitution G A intron_variant OV-AU 4 148760864 148760864 single base substitution A T intron_variant OV-AU 4 148763504 148763504 single base substitution T A intron_variant OV-AU 4 148764667 148764667 single base substitution T C intron_variant OV-AU 4 148765585 148765585 single base substitution C G intron_variant OV-AU 4 148770023 148770023 single base substitution T C intron_variant OV-AU 4 148774759 148774759 single base substitution C A intron_variant OV-AU 4 148774821 148774821 single base substitution T G intron_variant OV-AU 4 148782327 148782327 single base substitution C T downstream_gene_variant OV-AU 4 148782327 148782327 single base substitution C T exon_variant OV-AU 4 148782327 148782327 single base substitution C T intron_variant OV-AU 4 148782487 148782487 single base substitution C T downstream_gene_variant OV-AU 4 148782487 148782487 single base substitution C T exon_variant OV-AU 4 148782487 148782487 single base substitution C T intron_variant OV-AU 4 148784353 148784353 single base substitution A G downstream_gene_variant OV-AU 4 148784353 148784353 single base substitution A G exon_variant OV-AU 4 148784353 148784353 single base substitution A G intron_variant OV-AU 4 148790603 148790603 single base substitution C T intron_variant OV-AU 4 148795246 148795246 single base substitution C T intron_variant OV-AU 4 148803414 148803414 single base substitution C T intron_variant OV-AU 4 148810149 148810149 single base substitution A G intron_variant OV-AU 4 148810241 148810241 single base substitution G A intron_variant OV-AU 4 148811771 148811771 single base substitution A G intron_variant OV-AU 4 148811914 148811914 single base substitution G T intron_variant OV-AU 4 148813866 148813866 single base substitution G A intron_variant OV-AU 4 148825595 148825595 single base substitution C T intron_variant OV-AU 4 148834198 148834198 single base substitution C T intron_variant OV-AU 4 148834827 148834827 single base substitution A G intron_variant OV-AU 4 148837767 148837767 single base substitution A G intron_variant OV-AU 4 148850329 148850329 single base substitution C G intron_variant OV-AU 4 148870508 148870508 single base substitution T C intron_variant OV-AU 4 148871010 148871010 single base substitution G T intron_variant OV-AU 4 148872889 148872889 single base substitution C A intron_variant OV-AU 4 148879611 148879611 single base substitution T C intron_variant OV-AU 4 148882529 148882529 single base substitution C A intron_variant OV-AU 4 148883850 148883850 single base substitution T C intron_variant OV-AU 4 148892857 148892857 single base substitution G T intron_variant OV-AU 4 148896361 148896361 single base substitution G C intron_variant OV-AU 4 148907704 148907704 single base substitution T A intron_variant OV-AU 4 148912494 148912494 single base substitution G A intron_variant OV-AU 4 148926799 148926799 single base substitution G A intron_variant OV-AU 4 148932492 148932492 single base substitution G T intron_variant OV-AU 4 148938835 148938835 single base substitution G A intron_variant OV-AU 4 148944846 148944846 single base substitution A G intron_variant OV-AU 4 148950196 148950196 single base substitution A C intron_variant OV-AU 4 148957548 148957548 single base substitution C A intron_variant OV-AU 4 148958579 148958579 single base substitution C G intron_variant OV-AU 4 148965080 148965080 single base substitution G T intron_variant OV-AU 4 148969488 148969488 single base substitution T G intron_variant OV-AU 4 148980881 148980881 single base substitution G C intron_variant OV-AU 4 148986551 148986551 single base substitution T G downstream_gene_variant OV-AU 4 148986551 148986551 single base substitution T G exon_variant OV-AU 4 148986551 148986551 single base substitution T G intron_variant OV-AU 4 148995487 148995487 single base substitution G T downstream_gene_variant OV-AU 4 148997259 148997259 single base substitution C T downstream_gene_variant OV-AU 4 148997751 148997751 single base substitution T C downstream_gene_variant PACA-AU 4 148651188 148651188 single base substitution G A upstream_gene_variant PACA-AU 4 148651648 148651648 single base substitution G A upstream_gene_variant PACA-AU 4 148661025 148661025 single base substitution T A intron_variant PACA-AU 4 148669022 148669022 single base substitution G A intron_variant PACA-AU 4 148671214 148671214 single base substitution C A intron_variant PACA-AU 4 148671765 148671765 single base substitution T G intron_variant PACA-AU 4 148673740 148673740 single base substitution G C intron_variant PACA-AU 4 148677216 148677216 single base substitution T C intron_variant PACA-AU 4 148678291 148678291 single base substitution A G intron_variant PACA-AU 4 148680661 148680661 single base substitution G T intron_variant PACA-AU 4 148680822 148680822 single base substitution C A intron_variant PACA-AU 4 148682533 148682533 single base substitution A T intron_variant PACA-AU 4 148686491 148686491 single base substitution G T intron_variant PACA-AU 4 148689608 148689608 single base substitution G C intron_variant PACA-AU 4 148690982 148690982 single base substitution G C intron_variant PACA-AU 4 148694677 148694677 single base substitution C T intron_variant PACA-AU 4 148695941 148695941 single base substitution T A intron_variant PACA-AU 4 148695942 148695942 single base substitution G T intron_variant PACA-AU 4 148706999 148706999 single base substitution T G intron_variant PACA-AU 4 148709886 148709886 single base substitution G A intron_variant PACA-AU 4 148712741 148712741 single base substitution T C intron_variant PACA-AU 4 148714476 148714476 single base substitution T A intron_variant PACA-AU 4 148716751 148716751 single base substitution C T intron_variant PACA-AU 4 148718855 148718855 single base substitution C A intron_variant PACA-AU 4 148724960 148724960 single base substitution G T intron_variant PACA-AU 4 148726201 148726201 single base substitution G T intron_variant PACA-AU 4 148729049 148729049 single base substitution C T intron_variant PACA-AU 4 148736455 148736455 single base substitution C T intron_variant PACA-AU 4 148736630 148736630 single base substitution C T intron_variant PACA-AU 4 148744718 148744718 single base substitution G T intron_variant PACA-AU 4 148744735 148744735 single base substitution C T intron_variant PACA-AU 4 148745574 148745574 single base substitution G C intron_variant PACA-AU 4 148749955 148749955 single base substitution T G intron_variant PACA-AU 4 148754821 148754821 single base substitution C G intron_variant PACA-AU 4 148756146 148756146 single base substitution A C intron_variant PACA-AU 4 148759919 148759919 single base substitution C T intron_variant PACA-AU 4 148767400 148767400 single base substitution T A intron_variant PACA-AU 4 148769496 148769496 single base substitution G A intron_variant PACA-AU 4 148769762 148769762 single base substitution G A intron_variant PACA-AU 4 148770040 148770040 single base substitution G A intron_variant PACA-AU 4 148775396 148775396 single base substitution A G intron_variant PACA-AU 4 148779537 148779537 single base substitution T C exon_variant PACA-AU 4 148779537 148779537 single base substitution T C intron_variant PACA-AU 4 148779537 148779537 single base substitution T C upstream_gene_variant PACA-AU 4 148781587 148781601 deletion of <=200bp AAAACAAAACAAAAC - downstream_gene_variant PACA-AU 4 148781587 148781601 deletion of <=200bp AAAACAAAACAAAAC - intron_variant PACA-AU 4 148781587 148781601 deletion of <=200bp AAAACAAAACAAAAC - upstream_gene_variant PACA-AU 4 148785714 148785714 single base substitution A G exon_variant PACA-AU 4 148785714 148785714 single base substitution A G intron_variant PACA-AU 4 148785748 148785748 single base substitution G A exon_variant PACA-AU 4 148785748 148785748 single base substitution G A intron_variant PACA-AU 4 148786393 148786393 single base substitution A G exon_variant PACA-AU 4 148786393 148786393 single base substitution A G intron_variant PACA-AU 4 148787334 148787334 single base substitution C G exon_variant PACA-AU 4 148787334 148787334 single base substitution C G intron_variant PACA-AU 4 148788082 148788082 single base substitution A C intron_variant PACA-AU 4 148792311 148792311 single base substitution G A intron_variant PACA-AU 4 148795286 148795286 single base substitution G A intron_variant PACA-AU 4 148797725 148797725 single base substitution C T intron_variant PACA-AU 4 148801978 148801978 single base substitution C T intron_variant PACA-AU 4 148801978 148801978 single base substitution C T upstream_gene_variant PACA-AU 4 148802270 148802270 single base substitution C G intron_variant PACA-AU 4 148802270 148802270 single base substitution C G upstream_gene_variant PACA-AU 4 148809376 148809376 single base substitution G A intron_variant PACA-AU 4 148812848 148812848 single base substitution C T intron_variant PACA-AU 4 148814216 148814216 single base substitution T C intron_variant PACA-AU 4 148833536 148833536 single base substitution G T intron_variant PACA-AU 4 148835370 148835370 single base substitution A G intron_variant PACA-AU 4 148836451 148836451 single base substitution T A intron_variant PACA-AU 4 148840132 148840132 single base substitution A T intron_variant PACA-AU 4 148845427 148845427 single base substitution C A intron_variant PACA-AU 4 148863068 148863068 insertion of <=200bp - T intron_variant PACA-AU 4 148863068 148863068 insertion of <=200bp - T upstream_gene_variant PACA-AU 4 148863880 148863880 single base substitution C T intron_variant PACA-AU 4 148863880 148863880 single base substitution C T upstream_gene_variant PACA-AU 4 148867325 148867325 single base substitution G T intron_variant PACA-AU 4 148867325 148867325 single base substitution G T upstream_gene_variant PACA-AU 4 148871678 148871678 single base substitution G A intron_variant PACA-AU 4 148872329 148872329 single base substitution A G intron_variant PACA-AU 4 148881682 148881682 deletion of <=200bp A - intron_variant PACA-AU 4 148882067 148882067 single base substitution T A intron_variant PACA-AU 4 148884730 148884730 single base substitution G A intron_variant PACA-AU 4 148890761 148890761 single base substitution A G intron_variant PACA-AU 4 148905396 148905396 single base substitution C G intron_variant PACA-AU 4 148905973 148905973 single base substitution C T intron_variant PACA-AU 4 148907662 148907662 single base substitution G T intron_variant PACA-AU 4 148932973 148932973 single base substitution C G intron_variant PACA-AU 4 148938761 148938761 single base substitution C T intron_variant PACA-AU 4 148950816 148950816 single base substitution A G intron_variant PACA-AU 4 148954659 148954659 single base substitution C G intron_variant PACA-AU 4 148958968 148958968 single base substitution G C intron_variant PACA-AU 4 148963329 148963329 single base substitution C T intron_variant PACA-AU 4 148964766 148964766 insertion of <=200bp - ATATATATAT intron_variant PACA-AU 4 148964917 148964917 single base substitution G A intron_variant PACA-AU 4 148967884 148967884 single base substitution A T intron_variant PACA-AU 4 148973748 148973748 single base substitution T C intron_variant PACA-AU 4 148976568 148976568 single base substitution G A intron_variant PACA-AU 4 148982016 148982016 single base substitution A G intron_variant PACA-AU 4 148982016 148982016 single base substitution A G upstream_gene_variant PACA-AU 4 148985040 148985040 single base substitution C T downstream_gene_variant PACA-AU 4 148985040 148985040 single base substitution C T intron_variant PACA-AU 4 148985040 148985040 single base substitution C T upstream_gene_variant PACA-AU 4 148985647 148985647 single base substitution T A downstream_gene_variant PACA-AU 4 148985647 148985647 single base substitution T A exon_variant PACA-AU 4 148985647 148985647 single base substitution T A missense_variant I352N 1055T>A PACA-AU 4 148985647 148985647 single base substitution T A missense_variant I380N 1139T>A PACA-AU 4 148985647 148985647 single base substitution T A missense_variant I754N 2261T>A PACA-AU 4 148985647 148985647 single base substitution T A upstream_gene_variant PACA-AU 4 148993635 148993635 single base substitution G A 3_prime_UTR_variant PACA-AU 4 148993635 148993635 single base substitution G A downstream_gene_variant PACA-AU 4 148993635 148993635 single base substitution G A exon_variant PACA-CA 4 148650625 148650625 single base substitution T C upstream_gene_variant PACA-CA 4 148651705 148651705 single base substitution T C upstream_gene_variant PACA-CA 4 148651814 148651828 deletion of <=200bp CTGTCCAAACAGATT - upstream_gene_variant PACA-CA 4 148652533 148652533 single base substitution A C upstream_gene_variant PACA-CA 4 148664288 148664288 single base substitution G A intron_variant PACA-CA 4 148664348 148664348 single base substitution C A intron_variant PACA-CA 4 148668912 148668912 single base substitution G T intron_variant PACA-CA 4 148671765 148671765 single base substitution T G intron_variant PACA-CA 4 148672681 148672681 deletion of <=200bp T - intron_variant PACA-CA 4 148673320 148673320 single base substitution C T intron_variant PACA-CA 4 148680260 148680260 single base substitution C T intron_variant PACA-CA 4 148680378 148680378 single base substitution C T intron_variant PACA-CA 4 148681598 148681598 single base substitution G T intron_variant PACA-CA 4 148681669 148681669 single base substitution G A intron_variant PACA-CA 4 148683671 148683671 insertion of <=200bp - TATTTATTTTTA intron_variant PACA-CA 4 148686582 148686582 single base substitution G A intron_variant PACA-CA 4 148690520 148690520 single base substitution G T intron_variant PACA-CA 4 148693450 148693450 single base substitution C A intron_variant PACA-CA 4 148695311 148695311 single base substitution C A intron_variant PACA-CA 4 148695666 148695666 single base substitution A G intron_variant PACA-CA 4 148703363 148703363 single base substitution T A intron_variant PACA-CA 4 148708643 148708643 single base substitution G C intron_variant PACA-CA 4 148709288 148709288 insertion of <=200bp - TG intron_variant PACA-CA 4 148711557 148711557 deletion of <=200bp A - intron_variant PACA-CA 4 148712860 148712860 single base substitution C T intron_variant PACA-CA 4 148720579 148720579 single base substitution A G intron_variant PACA-CA 4 148724153 148724153 single base substitution G C intron_variant PACA-CA 4 148725898 148725898 insertion of <=200bp - T intron_variant PACA-CA 4 148731847 148731847 single base substitution T C intron_variant PACA-CA 4 148733964 148733964 single base substitution C A intron_variant PACA-CA 4 148737260 148737273 deletion of <=200bp AGGTGGTCGCCAGC - intron_variant PACA-CA 4 148739330 148739330 single base substitution A T intron_variant PACA-CA 4 148740648 148740648 single base substitution C T intron_variant PACA-CA 4 148743711 148743711 single base substitution T G intron_variant PACA-CA 4 148744176 148744176 single base substitution T G intron_variant PACA-CA 4 148748823 148748823 single base substitution T C intron_variant PACA-CA 4 148751362 148751362 single base substitution G C intron_variant PACA-CA 4 148757998 148757998 single base substitution A T intron_variant PACA-CA 4 148758814 148758814 single base substitution A T intron_variant PACA-CA 4 148758997 148758997 single base substitution A T intron_variant PACA-CA 4 148759257 148759257 single base substitution T C intron_variant PACA-CA 4 148759662 148759662 single base substitution A G intron_variant PACA-CA 4 148763726 148763726 single base substitution C T intron_variant PACA-CA 4 148764944 148764944 single base substitution C T intron_variant PACA-CA 4 148765595 148765595 insertion of <=200bp - T intron_variant PACA-CA 4 148765625 148765625 insertion of <=200bp - C intron_variant PACA-CA 4 148765981 148765981 single base substitution C T intron_variant PACA-CA 4 148770139 148770139 single base substitution A T intron_variant PACA-CA 4 148776761 148776761 single base substitution G T intron_variant PACA-CA 4 148776883 148776884 deletion of <=200bp CT - intron_variant PACA-CA 4 148779028 148779028 insertion of <=200bp - C exon_variant PACA-CA 4 148779028 148779028 insertion of <=200bp - C intron_variant PACA-CA 4 148779028 148779028 insertion of <=200bp - C upstream_gene_variant PACA-CA 4 148785801 148785801 single base substitution C G exon_variant PACA-CA 4 148785801 148785801 single base substitution C G intron_variant PACA-CA 4 148787669 148787669 deletion of <=200bp G - exon_variant PACA-CA 4 148787669 148787669 deletion of <=200bp G - intron_variant PACA-CA 4 148789555 148789555 deletion of <=200bp T - intron_variant PACA-CA 4 148789680 148789680 single base substitution C T intron_variant PACA-CA 4 148805040 148805040 single base substitution T G intron_variant PACA-CA 4 148805662 148805662 single base substitution C A intron_variant PACA-CA 4 148806185 148806185 single base substitution G T intron_variant PACA-CA 4 148808409 148808409 single base substitution C T intron_variant PACA-CA 4 148809026 148809026 single base substitution A T intron_variant PACA-CA 4 148815237 148815237 single base substitution T A intron_variant PACA-CA 4 148822976 148822976 single base substitution A G intron_variant PACA-CA 4 148824076 148824076 single base substitution G A intron_variant PACA-CA 4 148824532 148824532 single base substitution A G intron_variant PACA-CA 4 148825289 148825289 single base substitution G A intron_variant PACA-CA 4 148832419 148832419 single base substitution G T intron_variant PACA-CA 4 148838553 148838553 single base substitution C A intron_variant PACA-CA 4 148850338 148850338 single base substitution C T intron_variant PACA-CA 4 148851238 148851238 single base substitution T G intron_variant PACA-CA 4 148851436 148851436 single base substitution C T intron_variant PACA-CA 4 148854635 148854635 single base substitution T A intron_variant PACA-CA 4 148855066 148855066 single base substitution C T intron_variant PACA-CA 4 148855699 148855699 single base substitution G T intron_variant PACA-CA 4 148861762 148861762 single base substitution C G intron_variant PACA-CA 4 148863122 148863122 single base substitution G A intron_variant PACA-CA 4 148863122 148863122 single base substitution G A upstream_gene_variant PACA-CA 4 148863763 148863763 single base substitution C A intron_variant PACA-CA 4 148863763 148863763 single base substitution C A upstream_gene_variant PACA-CA 4 148864274 148864274 single base substitution C T intron_variant PACA-CA 4 148864274 148864274 single base substitution C T upstream_gene_variant PACA-CA 4 148866332 148866332 single base substitution C G intron_variant PACA-CA 4 148866332 148866332 single base substitution C G upstream_gene_variant PACA-CA 4 148867231 148867231 single base substitution C T intron_variant PACA-CA 4 148867231 148867231 single base substitution C T upstream_gene_variant PACA-CA 4 148868645 148868645 single base substitution C A intron_variant PACA-CA 4 148868750 148868750 single base substitution C T intron_variant PACA-CA 4 148873711 148873711 deletion of <=200bp G - intron_variant PACA-CA 4 148875188 148875188 insertion of <=200bp - T intron_variant PACA-CA 4 148875559 148875559 single base substitution G A intron_variant PACA-CA 4 148876604 148876604 single base substitution T A intron_variant PACA-CA 4 148878601 148878601 single base substitution C A intron_variant PACA-CA 4 148880570 148880570 single base substitution C T intron_variant PACA-CA 4 148883363 148883363 single base substitution G C intron_variant PACA-CA 4 148883610 148883610 single base substitution G A intron_variant PACA-CA 4 148883754 148883754 single base substitution C T intron_variant PACA-CA 4 148887153 148887153 single base substitution T C intron_variant PACA-CA 4 148889010 148889010 single base substitution G A intron_variant PACA-CA 4 148891250 148891250 single base substitution A G intron_variant PACA-CA 4 148894196 148894196 single base substitution G A intron_variant PACA-CA 4 148898319 148898319 single base substitution A T intron_variant PACA-CA 4 148900627 148900627 single base substitution G A intron_variant PACA-CA 4 148901810 148901810 single base substitution C T intron_variant PACA-CA 4 148902973 148902973 deletion of <=200bp T - intron_variant PACA-CA 4 148908149 148908149 single base substitution G C intron_variant PACA-CA 4 148908481 148908481 single base substitution A T intron_variant PACA-CA 4 148908851 148908851 single base substitution G A intron_variant PACA-CA 4 148910581 148910581 single base substitution C G intron_variant PACA-CA 4 148917791 148917791 single base substitution G T intron_variant PACA-CA 4 148918174 148918174 single base substitution A G intron_variant PACA-CA 4 148920807 148920807 single base substitution A T intron_variant PACA-CA 4 148925250 148925250 single base substitution C T intron_variant PACA-CA 4 148927080 148927080 single base substitution C T intron_variant PACA-CA 4 148927487 148927487 single base substitution A T intron_variant PACA-CA 4 148927520 148927520 single base substitution G A intron_variant PACA-CA 4 148927577 148927577 single base substitution G A intron_variant PACA-CA 4 148928718 148928718 single base substitution C A intron_variant PACA-CA 4 148929874 148929874 single base substitution T C intron_variant PACA-CA 4 148930055 148930055 single base substitution G A intron_variant PACA-CA 4 148933105 148933105 single base substitution G A intron_variant PACA-CA 4 148937526 148937526 single base substitution C T intron_variant PACA-CA 4 148940823 148940823 single base substitution C A intron_variant PACA-CA 4 148940823 148940823 single base substitution C A upstream_gene_variant PACA-CA 4 148943203 148943203 single base substitution T C intron_variant PACA-CA 4 148943203 148943203 single base substitution T C upstream_gene_variant PACA-CA 4 148944420 148944420 single base substitution C T exon_variant PACA-CA 4 148944420 148944420 single base substitution C T missense_variant R224W 670C>T PACA-CA 4 148944420 148944420 single base substitution C T missense_variant R252W 754C>T PACA-CA 4 148944420 148944420 single base substitution C T missense_variant R575W 1723C>T PACA-CA 4 148947509 148947509 single base substitution G A intron_variant PACA-CA 4 148951115 148951115 single base substitution C T intron_variant PACA-CA 4 148951296 148951296 deletion of <=200bp A - intron_variant PACA-CA 4 148966340 148966340 single base substitution C T intron_variant PACA-CA 4 148967844 148967844 single base substitution G A intron_variant PACA-CA 4 148968601 148968601 single base substitution C G intron_variant PACA-CA 4 148975794 148975794 single base substitution G A intron_variant PACA-CA 4 148976140 148976140 single base substitution G A intron_variant PACA-CA 4 148978118 148978118 single base substitution G C intron_variant PACA-CA 4 148981144 148981144 single base substitution A G intron_variant PACA-CA 4 148982451 148982451 single base substitution C T intron_variant PACA-CA 4 148982451 148982451 single base substitution C T upstream_gene_variant PACA-CA 4 148983730 148983730 single base substitution A G intron_variant PACA-CA 4 148983730 148983730 single base substitution A G upstream_gene_variant PACA-CA 4 148984112 148984112 single base substitution G A intron_variant PACA-CA 4 148984112 148984112 single base substitution G A upstream_gene_variant PACA-CA 4 148985945 148985945 single base substitution C G downstream_gene_variant PACA-CA 4 148985945 148985945 single base substitution C G intron_variant PACA-CA 4 148985945 148985945 single base substitution C G upstream_gene_variant PACA-CA 4 148986350 148986350 single base substitution C T downstream_gene_variant PACA-CA 4 148986350 148986350 single base substitution C T intron_variant PACA-CA 4 148986350 148986350 single base substitution C T upstream_gene_variant PACA-CA 4 148987172 148987172 single base substitution A C downstream_gene_variant PACA-CA 4 148987172 148987172 single base substitution A C intron_variant PACA-CA 4 148988869 148988869 single base substitution C G downstream_gene_variant PACA-CA 4 148988869 148988869 single base substitution C G intron_variant PACA-CA 4 148991223 148991223 single base substitution C T intron_variant PACA-CA 4 148993644 148993644 single base substitution G A 3_prime_UTR_variant PACA-CA 4 148993644 148993644 single base substitution G A downstream_gene_variant PACA-CA 4 148993644 148993644 single base substitution G A exon_variant PACA-CA 4 148995741 148995741 single base substitution G A downstream_gene_variant PAEN-AU 4 148662255 148662255 single base substitution A G intron_variant PAEN-AU 4 148671945 148671945 single base substitution G A intron_variant PAEN-AU 4 148695200 148695200 single base substitution A T intron_variant PAEN-AU 4 148711901 148711901 single base substitution C T intron_variant PAEN-AU 4 148740800 148740800 single base substitution C A intron_variant PAEN-AU 4 148778830 148778830 single base substitution C T exon_variant PAEN-AU 4 148778830 148778830 single base substitution C T intron_variant PAEN-AU 4 148778830 148778830 single base substitution C T upstream_gene_variant PAEN-AU 4 148799846 148799846 single base substitution A T intron_variant PAEN-AU 4 148799846 148799846 single base substitution A T upstream_gene_variant PAEN-AU 4 148799847 148799847 single base substitution C A intron_variant PAEN-AU 4 148799847 148799847 single base substitution C A upstream_gene_variant PAEN-AU 4 148852692 148852692 single base substitution A G intron_variant PAEN-AU 4 148860774 148860774 single base substitution C T intron_variant PAEN-AU 4 148908650 148908650 single base substitution G A intron_variant PAEN-AU 4 148917217 148917217 single base substitution G C intron_variant PAEN-AU 4 148924847 148924847 single base substitution G T intron_variant PAEN-AU 4 148950680 148950680 single base substitution G A intron_variant PAEN-AU 4 148957636 148957636 single base substitution C A intron_variant PAEN-AU 4 148961390 148961390 single base substitution G T intron_variant PAEN-IT 4 148661959 148661959 single base substitution G T intron_variant PAEN-IT 4 148683345 148683345 single base substitution G T intron_variant PAEN-IT 4 148728946 148728946 single base substitution C A intron_variant PAEN-IT 4 148794061 148794061 single base substitution G T intron_variant PAEN-IT 4 148811471 148811471 single base substitution G C intron_variant PAEN-IT 4 148829006 148829006 single base substitution G T intron_variant PAEN-IT 4 148838951 148838951 single base substitution A G intron_variant PAEN-IT 4 148871851 148871851 single base substitution G A intron_variant PAEN-IT 4 148876891 148876891 single base substitution G A intron_variant PAEN-IT 4 148988973 148988973 single base substitution G C downstream_gene_variant PAEN-IT 4 148988973 148988973 single base substitution G C intron_variant PAEN-IT 4 148992843 148992843 single base substitution C G intron_variant PBCA-DE 4 148657272 148657273 deletion of <=200bp TG - intron_variant PBCA-DE 4 148659728 148659728 single base substitution C T intron_variant PBCA-DE 4 148677910 148677910 deletion of <=200bp G - intron_variant PBCA-DE 4 148692396 148692396 single base substitution C T intron_variant PBCA-DE 4 148706933 148706933 single base substitution A G intron_variant PBCA-DE 4 148707876 148707877 deletion of <=200bp AC - intron_variant PBCA-DE 4 148712673 148712674 deletion of <=200bp GT - intron_variant PBCA-DE 4 148713844 148713844 single base substitution G T intron_variant PBCA-DE 4 148714316 148714317 deletion of <=200bp TG - intron_variant PBCA-DE 4 148732741 148732741 single base substitution T A intron_variant PBCA-DE 4 148737234 148737234 single base substitution A G intron_variant PBCA-DE 4 148747062 148747062 single base substitution G T intron_variant PBCA-DE 4 148760289 148760289 single base substitution A G intron_variant PBCA-DE 4 148760924 148760924 single base substitution C A intron_variant PBCA-DE 4 148774892 148774892 deletion of <=200bp T - intron_variant PBCA-DE 4 148778324 148778324 single base substitution G A intron_variant PBCA-DE 4 148778324 148778324 single base substitution G A upstream_gene_variant PBCA-DE 4 148783195 148783195 single base substitution T C downstream_gene_variant PBCA-DE 4 148783195 148783195 single base substitution T C exon_variant PBCA-DE 4 148783195 148783195 single base substitution T C intron_variant PBCA-DE 4 148788260 148788260 single base substitution G C intron_variant PBCA-DE 4 148790172 148790172 single base substitution C T intron_variant PBCA-DE 4 148790926 148790926 single base substitution G A intron_variant PBCA-DE 4 148792080 148792081 deletion of <=200bp TG - intron_variant PBCA-DE 4 148820480 148820481 deletion of <=200bp GT - intron_variant PBCA-DE 4 148839435 148839435 single base substitution C T intron_variant PBCA-DE 4 148840727 148840727 single base substitution T C intron_variant PBCA-DE 4 148840728 148840728 single base substitution C T intron_variant PBCA-DE 4 148846471 148846471 single base substitution C G intron_variant PBCA-DE 4 148851207 148851207 single base substitution C G intron_variant PBCA-DE 4 148866186 148866186 single base substitution A T intron_variant PBCA-DE 4 148866186 148866186 single base substitution A T upstream_gene_variant PBCA-DE 4 148869956 148869956 deletion of <=200bp A - intron_variant PBCA-DE 4 148870791 148870791 single base substitution T C intron_variant PBCA-DE 4 148871855 148871855 insertion of <=200bp - T intron_variant PBCA-DE 4 148874149 148874149 deletion of <=200bp T - intron_variant PBCA-DE 4 148874699 148874699 single base substitution T C intron_variant PBCA-DE 4 148877096 148877096 insertion of <=200bp - T intron_variant PBCA-DE 4 148884483 148884483 single base substitution C T intron_variant PBCA-DE 4 148886205 148886205 single base substitution C T exon_variant PBCA-DE 4 148886205 148886205 single base substitution C T missense_variant A143V 428C>T PBCA-DE 4 148886205 148886205 single base substitution C T missense_variant A171V 512C>T PBCA-DE 4 148886205 148886205 single base substitution C T missense_variant A494V 1481C>T PBCA-DE 4 148893450 148893450 single base substitution C A intron_variant PBCA-DE 4 148900532 148900532 single base substitution G T intron_variant PBCA-DE 4 148905010 148905010 deletion of <=200bp A - intron_variant PBCA-DE 4 148909190 148909190 single base substitution G T intron_variant PBCA-DE 4 148912702 148912702 single base substitution C T intron_variant PBCA-DE 4 148913045 148913045 single base substitution G T intron_variant PBCA-DE 4 148917021 148917021 single base substitution C T intron_variant PBCA-DE 4 148920202 148920202 single base substitution T A intron_variant PBCA-DE 4 148938804 148938805 deletion of <=200bp TA - intron_variant PBCA-DE 4 148938993 148938993 single base substitution T C intron_variant PBCA-DE 4 148949048 148949048 insertion of <=200bp - T intron_variant PBCA-DE 4 148952487 148952487 single base substitution C A intron_variant PBCA-DE 4 148956910 148956910 single base substitution C A intron_variant PBCA-DE 4 148957218 148957219 deletion of <=200bp TG - intron_variant PBCA-DE 4 148964907 148964907 single base substitution A T intron_variant PBCA-DE 4 148965930 148965930 single base substitution G A intron_variant PBCA-DE 4 148967749 148967749 single base substitution G A intron_variant PBCA-DE 4 148968234 148968234 single base substitution G T intron_variant PBCA-DE 4 148976885 148976885 single base substitution T G intron_variant PBCA-DE 4 148979431 148979431 single base substitution A C intron_variant PBCA-DE 4 148984769 148984769 single base substitution C T downstream_gene_variant PBCA-DE 4 148984769 148984769 single base substitution C T intron_variant PBCA-DE 4 148984769 148984769 single base substitution C T upstream_gene_variant PBCA-DE 4 148998403 148998403 single base substitution A G downstream_gene_variant PRAD-CA 4 148652461 148652461 single base substitution C T upstream_gene_variant PRAD-CA 4 148687991 148687991 single base substitution T A intron_variant PRAD-CA 4 148691170 148691170 single base substitution A T intron_variant PRAD-CA 4 148715707 148715707 single base substitution A C intron_variant PRAD-CA 4 148730341 148730341 single base substitution C T intron_variant PRAD-CA 4 148732754 148732754 single base substitution C A intron_variant PRAD-CA 4 148758814 148758814 single base substitution A T intron_variant PRAD-CA 4 148773242 148773242 single base substitution T C intron_variant PRAD-CA 4 148820034 148820034 single base substitution G A intron_variant PRAD-CA 4 148832048 148832048 single base substitution C T intron_variant PRAD-CA 4 148835718 148835718 single base substitution C T intron_variant PRAD-CA 4 148835719 148835719 single base substitution C T intron_variant PRAD-CA 4 148869479 148869479 single base substitution A G intron_variant PRAD-CA 4 148884249 148884249 single base substitution T C intron_variant PRAD-CA 4 148903533 148903533 single base substitution C T intron_variant PRAD-CA 4 148917625 148917625 single base substitution T G intron_variant PRAD-CA 4 148918229 148918229 single base substitution C T intron_variant PRAD-CA 4 148959498 148959498 single base substitution A G intron_variant PRAD-CA 4 148973061 148973061 single base substitution A C intron_variant PRAD-CA 4 148981496 148981496 single base substitution G C intron_variant PRAD-CA 4 148981496 148981496 single base substitution G C upstream_gene_variant PRAD-CA 4 148981496 148981496 single base substitution G T intron_variant PRAD-CA 4 148981496 148981496 single base substitution G T upstream_gene_variant PRAD-UK 4 148676872 148676872 single base substitution A G intron_variant PRAD-UK 4 148677900 148677900 single base substitution C T intron_variant PRAD-UK 4 148690580 148690580 single base substitution T G intron_variant PRAD-UK 4 148699055 148699055 deletion of <=200bp A - intron_variant PRAD-UK 4 148706277 148706277 single base substitution G C intron_variant PRAD-UK 4 148708859 148708859 single base substitution C A intron_variant PRAD-UK 4 148718702 148718703 deletion of <=200bp TA - intron_variant PRAD-UK 4 148732947 148732947 single base substitution C G intron_variant PRAD-UK 4 148742819 148742825 deletion of <=200bp ACTGTGA - intron_variant PRAD-UK 4 148748876 148748876 single base substitution A G intron_variant PRAD-UK 4 148771219 148771219 deletion of <=200bp A - intron_variant PRAD-UK 4 148772479 148772479 single base substitution C T intron_variant PRAD-UK 4 148774810 148774810 single base substitution G T intron_variant PRAD-UK 4 148792752 148792752 single base substitution T C intron_variant PRAD-UK 4 148816166 148816166 single base substitution A G intron_variant PRAD-UK 4 148818979 148818979 deletion of <=200bp C - intron_variant PRAD-UK 4 148833191 148833191 insertion of <=200bp - TGTGTA intron_variant PRAD-UK 4 148837543 148837543 single base substitution A T intron_variant PRAD-UK 4 148840386 148840386 single base substitution A G intron_variant PRAD-UK 4 148840593 148840593 single base substitution A T intron_variant PRAD-UK 4 148841310 148841310 single base substitution G A intron_variant PRAD-UK 4 148846204 148846204 single base substitution T G intron_variant PRAD-UK 4 148851523 148851523 single base substitution T G intron_variant PRAD-UK 4 148856840 148856840 single base substitution A G intron_variant PRAD-UK 4 148863448 148863448 insertion of <=200bp - T intron_variant PRAD-UK 4 148863448 148863448 insertion of <=200bp - T upstream_gene_variant PRAD-UK 4 148863454 148863454 insertion of <=200bp - T intron_variant PRAD-UK 4 148863454 148863454 insertion of <=200bp - T upstream_gene_variant PRAD-UK 4 148863650 148863650 single base substitution C G intron_variant PRAD-UK 4 148863650 148863650 single base substitution C G upstream_gene_variant PRAD-UK 4 148867344 148867344 single base substitution C G intron_variant PRAD-UK 4 148867344 148867344 single base substitution C G upstream_gene_variant PRAD-UK 4 148872072 148872072 insertion of <=200bp - T intron_variant PRAD-UK 4 148876209 148876209 single base substitution C T intron_variant PRAD-UK 4 148876332 148876332 single base substitution T C intron_variant PRAD-UK 4 148896759 148896759 single base substitution C T intron_variant PRAD-UK 4 148907830 148907830 single base substitution T C intron_variant PRAD-UK 4 148917210 148917210 single base substitution C T intron_variant PRAD-UK 4 148924153 148924153 single base substitution A G intron_variant PRAD-UK 4 148941508 148941508 single base substitution C T intron_variant PRAD-UK 4 148941508 148941508 single base substitution C T upstream_gene_variant PRAD-UK 4 148949982 148949982 deletion of <=200bp G - intron_variant PRAD-UK 4 148967421 148967421 insertion of <=200bp - A intron_variant PRAD-UK 4 148968424 148968424 single base substitution T C intron_variant PRAD-UK 4 148978330 148978330 single base substitution C T intron_variant PRAD-US 4 148786095 148786095 single base substitution G T exon_variant PRAD-US 4 148786095 148786095 single base substitution G T missense_variant E195D 585G>T PRAD-US 4 148802993 148802993 single base substitution A G exon_variant PRAD-US 4 148802993 148802993 single base substitution A G missense_variant D315G 944A>G PRAD-US 4 148802993 148802993 single base substitution A G upstream_gene_variant PRAD-US 4 148886179 148886179 single base substitution C T exon_variant PRAD-US 4 148886179 148886179 single base substitution C T synonymous_variant S134S 402C>T PRAD-US 4 148886179 148886179 single base substitution C T synonymous_variant S162S 486C>T PRAD-US 4 148886179 148886179 single base substitution C T synonymous_variant S485S 1455C>T READ-US 4 148744100 148744100 single base substitution G A exon_variant READ-US 4 148744100 148744100 single base substitution G A missense_variant E102K 304G>A READ-US 4 148744100 148744100 single base substitution G T exon_variant READ-US 4 148744100 148744100 single base substitution G T stop_gained E102* 304G>T RECA-EU 4 148654968 148654968 single base substitution C T intron_variant RECA-EU 4 148669689 148669689 single base substitution A G intron_variant RECA-EU 4 148670345 148670345 single base substitution G A intron_variant RECA-EU 4 148679346 148679346 single base substitution G T intron_variant RECA-EU 4 148679852 148679852 single base substitution G T intron_variant RECA-EU 4 148690152 148690152 single base substitution G A intron_variant RECA-EU 4 148698039 148698039 single base substitution G T intron_variant RECA-EU 4 148704719 148704719 single base substitution G A intron_variant RECA-EU 4 148758208 148758208 single base substitution A T intron_variant RECA-EU 4 148758801 148758801 single base substitution T G intron_variant RECA-EU 4 148760325 148760325 single base substitution T G intron_variant RECA-EU 4 148761305 148761305 single base substitution T C intron_variant RECA-EU 4 148769986 148769986 single base substitution T C intron_variant RECA-EU 4 148779277 148779277 single base substitution G T exon_variant RECA-EU 4 148779277 148779277 single base substitution G T intron_variant RECA-EU 4 148779277 148779277 single base substitution G T upstream_gene_variant RECA-EU 4 148784433 148784433 single base substitution C T downstream_gene_variant RECA-EU 4 148784433 148784433 single base substitution C T exon_variant RECA-EU 4 148784433 148784433 single base substitution C T intron_variant RECA-EU 4 148791157 148791157 single base substitution G C intron_variant RECA-EU 4 148796172 148796172 single base substitution A G missense_variant T235A 703A>G RECA-EU 4 148796172 148796172 single base substitution A G splice_region_variant RECA-EU 4 148801900 148801900 single base substitution A T intron_variant RECA-EU 4 148801900 148801900 single base substitution A T upstream_gene_variant RECA-EU 4 148801901 148801901 single base substitution A T intron_variant RECA-EU 4 148801901 148801901 single base substitution A T upstream_gene_variant RECA-EU 4 148801902 148801902 single base substitution T G intron_variant RECA-EU 4 148801902 148801902 single base substitution T G upstream_gene_variant RECA-EU 4 148809110 148809110 single base substitution G T intron_variant RECA-EU 4 148817096 148817096 single base substitution G T intron_variant RECA-EU 4 148827519 148827519 single base substitution G C intron_variant RECA-EU 4 148828996 148828996 single base substitution T C intron_variant RECA-EU 4 148829277 148829277 single base substitution G T intron_variant RECA-EU 4 148861605 148861605 single base substitution C T intron_variant RECA-EU 4 148887856 148887856 single base substitution C T exon_variant RECA-EU 4 148887856 148887856 single base substitution C T synonymous_variant L177L 529C>T RECA-EU 4 148887856 148887856 single base substitution C T synonymous_variant L205L 613C>T RECA-EU 4 148887856 148887856 single base substitution C T synonymous_variant L528L 1582C>T RECA-EU 4 148896211 148896211 single base substitution A T intron_variant RECA-EU 4 148898006 148898006 single base substitution T C intron_variant RECA-EU 4 148901186 148901186 single base substitution C T intron_variant RECA-EU 4 148903547 148903547 single base substitution G A intron_variant RECA-EU 4 148909275 148909275 single base substitution G C intron_variant RECA-EU 4 148916314 148916314 single base substitution C T intron_variant RECA-EU 4 148936839 148936839 single base substitution G T intron_variant RECA-EU 4 148936934 148936934 single base substitution A G intron_variant RECA-EU 4 148942102 148942102 single base substitution G T intron_variant RECA-EU 4 148942102 148942102 single base substitution G T upstream_gene_variant RECA-EU 4 148944120 148944120 single base substitution T C intron_variant RECA-EU 4 148944120 148944120 single base substitution T C upstream_gene_variant RECA-EU 4 148968419 148968419 single base substitution C G intron_variant RECA-EU 4 148973934 148973934 single base substitution G A intron_variant RECA-EU 4 148978305 148978305 single base substitution A G intron_variant RECA-EU 4 148983454 148983454 single base substitution T A intron_variant RECA-EU 4 148983454 148983454 single base substitution T A upstream_gene_variant RECA-EU 4 148983713 148983713 single base substitution C G intron_variant RECA-EU 4 148983713 148983713 single base substitution C G upstream_gene_variant SKCA-BR 4 148648853 148648853 single base substitution C T upstream_gene_variant SKCA-BR 4 148649262 148649262 single base substitution G A upstream_gene_variant SKCA-BR 4 148656329 148656329 single base substitution G A intron_variant SKCA-BR 4 148659544 148659544 single base substitution T A intron_variant SKCA-BR 4 148661706 148661706 single base substitution C T intron_variant SKCA-BR 4 148662931 148662943 deletion of <=200bp ACACACACACACG - intron_variant SKCA-BR 4 148663451 148663451 single base substitution C T intron_variant SKCA-BR 4 148664722 148664722 single base substitution A G intron_variant SKCA-BR 4 148666739 148666739 single base substitution T C intron_variant SKCA-BR 4 148666941 148666941 insertion of <=200bp - CT intron_variant SKCA-BR 4 148668798 148668798 insertion of <=200bp - GT intron_variant SKCA-BR 4 148668850 148668850 single base substitution C T intron_variant SKCA-BR 4 148672050 148672050 single base substitution G A intron_variant SKCA-BR 4 148674506 148674506 insertion of <=200bp - CT intron_variant SKCA-BR 4 148674740 148674740 single base substitution G A intron_variant SKCA-BR 4 148675123 148675123 single base substitution C T intron_variant SKCA-BR 4 148677639 148677639 single base substitution C T intron_variant SKCA-BR 4 148680045 148680045 single base substitution C T intron_variant SKCA-BR 4 148680150 148680150 single base substitution C A intron_variant SKCA-BR 4 148685104 148685104 single base substitution C T intron_variant SKCA-BR 4 148685930 148685930 single base substitution C G intron_variant SKCA-BR 4 148686316 148686316 single base substitution G T intron_variant SKCA-BR 4 148686488 148686488 insertion of <=200bp - TGTG intron_variant SKCA-BR 4 148687161 148687161 single base substitution G A intron_variant SKCA-BR 4 148687162 148687162 single base substitution G C intron_variant SKCA-BR 4 148687967 148687967 single base substitution A T intron_variant SKCA-BR 4 148687971 148687971 single base substitution A T intron_variant SKCA-BR 4 148689891 148689892 deletion of <=200bp TC - intron_variant SKCA-BR 4 148690220 148690220 single base substitution A T intron_variant SKCA-BR 4 148690697 148690697 single base substitution C T intron_variant SKCA-BR 4 148696059 148696059 insertion of <=200bp - AT intron_variant SKCA-BR 4 148696091 148696091 single base substitution C T intron_variant SKCA-BR 4 148696785 148696785 single base substitution C T intron_variant SKCA-BR 4 148698000 148698000 single base substitution C T intron_variant SKCA-BR 4 148702240 148702240 single base substitution T G intron_variant SKCA-BR 4 148702822 148702822 single base substitution C T intron_variant SKCA-BR 4 148703456 148703456 single base substitution T G intron_variant SKCA-BR 4 148704193 148704193 single base substitution A G intron_variant SKCA-BR 4 148704719 148704719 single base substitution G A intron_variant SKCA-BR 4 148704739 148704739 insertion of <=200bp - AAC intron_variant SKCA-BR 4 148705951 148705951 single base substitution A G intron_variant SKCA-BR 4 148707044 148707044 single base substitution C T intron_variant SKCA-BR 4 148708414 148708414 single base substitution G A intron_variant SKCA-BR 4 148709574 148709574 single base substitution G A intron_variant SKCA-BR 4 148709575 148709575 single base substitution G A intron_variant SKCA-BR 4 148711847 148711847 single base substitution A G intron_variant SKCA-BR 4 148714470 148714471 deletion of <=200bp TA - intron_variant SKCA-BR 4 148716581 148716581 single base substitution C T intron_variant SKCA-BR 4 148718655 148718655 single base substitution C T intron_variant SKCA-BR 4 148719374 148719374 single base substitution A T intron_variant SKCA-BR 4 148719873 148719889 deletion of <=200bp ACACTCTCTCTCTCTCT - intron_variant SKCA-BR 4 148719904 148719938 deletion of <=200bp CTCTCTCTCTCTCTCTCTCTCTCTCTCTCTATATA - intron_variant SKCA-BR 4 148719908 148719944 deletion of <=200bp CTCTCTCTCTCTCTCTCTCTCTCTCTATATATATATA - intron_variant SKCA-BR 4 148719910 148719946 deletion of <=200bp CTCTCTCTCTCTCTCTCTCTCTCTATATATATATATA - intron_variant SKCA-BR 4 148721858 148721858 single base substitution C T intron_variant SKCA-BR 4 148725946 148725946 single base substitution T C intron_variant SKCA-BR 4 148731244 148731244 single base substitution C T intron_variant SKCA-BR 4 148731622 148731622 single base substitution T C intron_variant SKCA-BR 4 148732059 148732059 single base substitution C T intron_variant SKCA-BR 4 148737446 148737446 single base substitution C T intron_variant SKCA-BR 4 148739377 148739377 single base substitution A G intron_variant SKCA-BR 4 148747099 148747099 single base substitution T G intron_variant SKCA-BR 4 148748594 148748594 single base substitution T A intron_variant SKCA-BR 4 148750574 148750574 single base substitution G A intron_variant SKCA-BR 4 148751300 148751300 single base substitution C T intron_variant SKCA-BR 4 148751663 148751669 deletion of <=200bp CTTTTTT - intron_variant SKCA-BR 4 148756799 148756799 single base substitution A G intron_variant SKCA-BR 4 148760453 148760453 single base substitution G A intron_variant SKCA-BR 4 148765278 148765278 single base substitution T C intron_variant SKCA-BR 4 148765775 148765775 single base substitution C T intron_variant SKCA-BR 4 148766731 148766731 single base substitution C T intron_variant SKCA-BR 4 148769165 148769165 single base substitution G A intron_variant SKCA-BR 4 148769242 148769242 insertion of <=200bp - GT intron_variant SKCA-BR 4 148770429 148770429 single base substitution C T intron_variant SKCA-BR 4 148772244 148772244 single base substitution T A intron_variant SKCA-BR 4 148773879 148773882 deletion of <=200bp TTTA - intron_variant SKCA-BR 4 148774450 148774450 single base substitution G T intron_variant SKCA-BR 4 148774456 148774456 single base substitution A T intron_variant SKCA-BR 4 148775069 148775069 single base substitution C T intron_variant SKCA-BR 4 148776794 148776794 single base substitution C T intron_variant SKCA-BR 4 148776833 148776834 deletion of <=200bp GT - intron_variant SKCA-BR 4 148777118 148777118 single base substitution G A intron_variant SKCA-BR 4 148778912 148778912 single base substitution G A exon_variant SKCA-BR 4 148778912 148778912 single base substitution G A intron_variant SKCA-BR 4 148778912 148778912 single base substitution G A upstream_gene_variant SKCA-BR 4 148780424 148780425 deletion of <=200bp CT - downstream_gene_variant SKCA-BR 4 148780424 148780425 deletion of <=200bp CT - intron_variant SKCA-BR 4 148780424 148780425 deletion of <=200bp CT - upstream_gene_variant SKCA-BR 4 148787841 148787841 single base substitution C G exon_variant SKCA-BR 4 148787841 148787841 single base substitution C G intron_variant SKCA-BR 4 148790247 148790247 single base substitution G A intron_variant SKCA-BR 4 148791147 148791147 insertion of <=200bp - GTTTT intron_variant SKCA-BR 4 148791155 148791155 single base substitution G T intron_variant SKCA-BR 4 148791157 148791157 single base substitution G C intron_variant SKCA-BR 4 148791159 148791159 single base substitution G C intron_variant SKCA-BR 4 148792978 148792978 single base substitution A G intron_variant SKCA-BR 4 148795039 148795039 single base substitution A G intron_variant SKCA-BR 4 148797244 148797244 single base substitution A T intron_variant SKCA-BR 4 148801446 148801446 single base substitution G A intron_variant SKCA-BR 4 148801446 148801446 single base substitution G A upstream_gene_variant SKCA-BR 4 148805725 148805725 single base substitution C T intron_variant SKCA-BR 4 148806416 148806416 single base substitution G A intron_variant SKCA-BR 4 148807128 148807128 single base substitution C T intron_variant SKCA-BR 4 148808268 148808268 single base substitution C T intron_variant SKCA-BR 4 148808374 148808374 single base substitution C T intron_variant SKCA-BR 4 148809718 148809718 single base substitution T A intron_variant SKCA-BR 4 148816663 148816663 insertion of <=200bp - CA intron_variant SKCA-BR 4 148816763 148816763 single base substitution G C intron_variant SKCA-BR 4 148819819 148819819 single base substitution C T intron_variant SKCA-BR 4 148823030 148823030 single base substitution C T intron_variant SKCA-BR 4 148823645 148823645 single base substitution G A intron_variant SKCA-BR 4 148824549 148824549 single base substitution C T intron_variant SKCA-BR 4 148824731 148824731 single base substitution C A intron_variant SKCA-BR 4 148826358 148826358 single base substitution C T intron_variant SKCA-BR 4 148826605 148826605 single base substitution C T intron_variant SKCA-BR 4 148828914 148828914 single base substitution A C intron_variant SKCA-BR 4 148830455 148830455 single base substitution C T intron_variant SKCA-BR 4 148831499 148831500 deletion of <=200bp CA - intron_variant SKCA-BR 4 148832854 148832854 single base substitution G A intron_variant SKCA-BR 4 148838171 148838171 single base substitution T C intron_variant SKCA-BR 4 148839409 148839409 single base substitution C T intron_variant SKCA-BR 4 148839410 148839410 single base substitution C T intron_variant SKCA-BR 4 148841060 148841060 single base substitution C T intron_variant SKCA-BR 4 148842098 148842098 single base substitution G A intron_variant SKCA-BR 4 148842743 148842743 single base substitution C T intron_variant SKCA-BR 4 148847059 148847059 single base substitution C T intron_variant SKCA-BR 4 148850459 148850459 single base substitution C T intron_variant SKCA-BR 4 148853769 148853769 single base substitution T G intron_variant SKCA-BR 4 148855625 148855625 single base substitution T G intron_variant SKCA-BR 4 148855980 148855980 single base substitution C T intron_variant SKCA-BR 4 148857933 148857933 single base substitution T A intron_variant SKCA-BR 4 148858375 148858375 single base substitution T A intron_variant SKCA-BR 4 148858595 148858595 single base substitution C T intron_variant SKCA-BR 4 148858614 148858614 single base substitution G A intron_variant SKCA-BR 4 148862372 148862372 single base substitution G T intron_variant SKCA-BR 4 148868378 148868378 single base substitution C T intron_variant SKCA-BR 4 148870704 148870704 single base substitution A C intron_variant SKCA-BR 4 148870708 148870708 single base substitution T C intron_variant SKCA-BR 4 148872031 148872031 single base substitution G A intron_variant SKCA-BR 4 148874350 148874350 single base substitution C T intron_variant SKCA-BR 4 148874525 148874525 single base substitution C T intron_variant SKCA-BR 4 148876502 148876502 single base substitution A T exon_variant SKCA-BR 4 148876502 148876502 single base substitution A T missense_variant H125L 374A>T SKCA-BR 4 148876502 148876502 single base substitution A T missense_variant H153L 458A>T SKCA-BR 4 148876502 148876502 single base substitution A T missense_variant H476L 1427A>T SKCA-BR 4 148879008 148879008 single base substitution T A intron_variant SKCA-BR 4 148880679 148880679 single base substitution C T intron_variant SKCA-BR 4 148881020 148881020 single base substitution C T intron_variant SKCA-BR 4 148882311 148882311 single base substitution A T intron_variant SKCA-BR 4 148884193 148884193 single base substitution C T intron_variant SKCA-BR 4 148884219 148884219 single base substitution T A intron_variant SKCA-BR 4 148884346 148884346 single base substitution C T intron_variant SKCA-BR 4 148890515 148890515 single base substitution A T intron_variant SKCA-BR 4 148893608 148893608 single base substitution A T intron_variant SKCA-BR 4 148895917 148895917 single base substitution A T intron_variant SKCA-BR 4 148895981 148895981 single base substitution A G intron_variant SKCA-BR 4 148896279 148896279 single base substitution C T intron_variant SKCA-BR 4 148904684 148904684 single base substitution T C intron_variant SKCA-BR 4 148908379 148908379 single base substitution T G intron_variant SKCA-BR 4 148908523 148908523 single base substitution A G intron_variant SKCA-BR 4 148909992 148909992 single base substitution C T intron_variant SKCA-BR 4 148910424 148910424 single base substitution G A intron_variant SKCA-BR 4 148911565 148911565 single base substitution C T intron_variant SKCA-BR 4 148914539 148914539 single base substitution C T intron_variant SKCA-BR 4 148917926 148917926 single base substitution G A intron_variant SKCA-BR 4 148918508 148918508 single base substitution G A intron_variant SKCA-BR 4 148920843 148920843 single base substitution C T intron_variant SKCA-BR 4 148923570 148923570 single base substitution T C intron_variant SKCA-BR 4 148924619 148924619 single base substitution C T intron_variant SKCA-BR 4 148932462 148932462 single base substitution C T intron_variant SKCA-BR 4 148934752 148934752 single base substitution T G intron_variant SKCA-BR 4 148935186 148935186 single base substitution G A intron_variant SKCA-BR 4 148941690 148941690 insertion of <=200bp - GT intron_variant SKCA-BR 4 148941690 148941690 insertion of <=200bp - GT upstream_gene_variant SKCA-BR 4 148942017 148942017 single base substitution G A intron_variant SKCA-BR 4 148942017 148942017 single base substitution G A upstream_gene_variant SKCA-BR 4 148944994 148944994 single base substitution A C intron_variant SKCA-BR 4 148945236 148945236 single base substitution C T intron_variant SKCA-BR 4 148946843 148946843 single base substitution G A intron_variant SKCA-BR 4 148950107 148950107 single base substitution C T intron_variant SKCA-BR 4 148953491 148953491 single base substitution C T intron_variant SKCA-BR 4 148953673 148953673 single base substitution T G intron_variant SKCA-BR 4 148955273 148955273 single base substitution C A intron_variant SKCA-BR 4 148955635 148955635 insertion of <=200bp - AT intron_variant SKCA-BR 4 148960847 148960847 single base substitution C T intron_variant SKCA-BR 4 148962042 148962042 single base substitution G A intron_variant SKCA-BR 4 148968447 148968447 single base substitution C T intron_variant SKCA-BR 4 148971814 148971814 single base substitution G C intron_variant SKCA-BR 4 148973423 148973423 single base substitution C T intron_variant SKCA-BR 4 148976012 148976012 single base substitution C T intron_variant SKCA-BR 4 148978928 148978928 single base substitution T G intron_variant SKCA-BR 4 148978930 148978947 deletion of <=200bp AATTGGGCATTCTCCACT - intron_variant SKCA-BR 4 148980077 148980077 single base substitution C T intron_variant SKCA-BR 4 148981178 148981178 insertion of <=200bp - CGA intron_variant SKCA-BR 4 148983908 148983908 single base substitution G A intron_variant SKCA-BR 4 148983908 148983908 single base substitution G A upstream_gene_variant SKCA-BR 4 148989627 148989627 single base substitution C T intron_variant SKCA-BR 4 148990678 148990678 single base substitution C T intron_variant SKCA-BR 4 148990717 148990723 deletion of <=200bp ACCGAGT - intron_variant SKCA-BR 4 148991355 148991355 single base substitution T A intron_variant SKCA-BR 4 148992898 148992898 single base substitution G A intron_variant SKCA-BR 4 148996946 148996946 single base substitution T C downstream_gene_variant SKCM-US 4 148743890 148743890 single base substitution C T exon_variant SKCM-US 4 148743890 148743890 single base substitution C T missense_variant A56V 167C>T SKCM-US 4 148744081 148744081 single base substitution G A exon_variant SKCM-US 4 148744081 148744081 single base substitution G A synonymous_variant K95K 285G>A SKCM-US 4 148827821 148827821 single base substitution C T exon_variant SKCM-US 4 148827821 148827821 single base substitution C T missense_variant S33F 98C>T SKCM-US 4 148827821 148827821 single base substitution C T missense_variant S356F 1067C>T SKCM-US 4 148827821 148827821 single base substitution C T missense_variant S5F 14C>T SKCM-US 4 148827861 148827861 deletion of <=200bp A - exon_variant SKCM-US 4 148827861 148827861 deletion of <=200bp A - frameshift_variant G18 SKCM-US 4 148827861 148827861 deletion of <=200bp A - frameshift_variant G369 SKCM-US 4 148827861 148827861 deletion of <=200bp A - frameshift_variant G46 SKCM-US 4 148867830 148867830 single base substitution A C exon_variant SKCM-US 4 148867830 148867830 single base substitution A C missense_variant T105P 313A>C SKCM-US 4 148867830 148867830 single base substitution A C missense_variant T133P 397A>C SKCM-US 4 148867830 148867830 single base substitution A C missense_variant T456P 1366A>C SKCM-US 4 148876520 148876520 single base substitution C A exon_variant SKCM-US 4 148876520 148876520 single base substitution C A missense_variant P131Q 392C>A SKCM-US 4 148876520 148876520 single base substitution C A missense_variant P159Q 476C>A SKCM-US 4 148876520 148876520 single base substitution C A missense_variant P482Q 1445C>A SKCM-US 4 148887936 148887936 single base substitution G A exon_variant SKCM-US 4 148887936 148887936 single base substitution G A missense_variant M203I 609G>A SKCM-US 4 148887936 148887936 single base substitution G A missense_variant M231I 693G>A SKCM-US 4 148887936 148887936 single base substitution G A missense_variant M554I 1662G>A SKCM-US 4 148887969 148887969 single base substitution C T exon_variant SKCM-US 4 148887969 148887969 single base substitution C T synonymous_variant I214I 642C>T SKCM-US 4 148887969 148887969 single base substitution C T synonymous_variant I242I 726C>T SKCM-US 4 148887969 148887969 single base substitution C T synonymous_variant I565I 1695C>T SKCM-US 4 148944420 148944420 single base substitution C T exon_variant SKCM-US 4 148944420 148944420 single base substitution C T missense_variant R224W 670C>T SKCM-US 4 148944420 148944420 single base substitution C T missense_variant R252W 754C>T SKCM-US 4 148944420 148944420 single base substitution C T missense_variant R575W 1723C>T SKCM-US 4 148944547 148944547 single base substitution G A exon_variant SKCM-US 4 148944547 148944547 single base substitution G A missense_variant C266Y 797G>A SKCM-US 4 148944547 148944547 single base substitution G A missense_variant C294Y 881G>A SKCM-US 4 148944547 148944547 single base substitution G A missense_variant C617Y 1850G>A SKCM-US 4 148968090 148968090 single base substitution G A exon_variant SKCM-US 4 148968090 148968090 single base substitution G A missense_variant D288N 862G>A SKCM-US 4 148968090 148968090 single base substitution G A missense_variant D316N 946G>A SKCM-US 4 148968090 148968090 single base substitution G A missense_variant D639N 1915G>A SKCM-US 4 148968112 148968112 single base substitution C T exon_variant SKCM-US 4 148968112 148968112 single base substitution C T missense_variant P295L 884C>T SKCM-US 4 148968112 148968112 single base substitution C T missense_variant P323L 968C>T SKCM-US 4 148968112 148968112 single base substitution C T missense_variant P646L 1937C>T SKCM-US 4 148968136 148968136 single base substitution C T exon_variant SKCM-US 4 148968136 148968136 single base substitution C T missense_variant P303L 908C>T SKCM-US 4 148968136 148968136 single base substitution C T missense_variant P331L 992C>T SKCM-US 4 148968136 148968136 single base substitution C T missense_variant P654L 1961C>T SKCM-US 4 148985583 148985583 single base substitution G C downstream_gene_variant SKCM-US 4 148985583 148985583 single base substitution G C exon_variant SKCM-US 4 148985583 148985583 single base substitution G C missense_variant A331P 991G>C SKCM-US 4 148985583 148985583 single base substitution G C missense_variant A359P 1075G>C SKCM-US 4 148985583 148985583 single base substitution G C missense_variant A733P 2197G>C SKCM-US 4 148985583 148985583 single base substitution G C upstream_gene_variant SKCM-US 4 148985629 148985629 single base substitution C T downstream_gene_variant SKCM-US 4 148985629 148985629 single base substitution C T exon_variant SKCM-US 4 148985629 148985629 single base substitution C T missense_variant S346F 1037C>T SKCM-US 4 148985629 148985629 single base substitution C T missense_variant S374F 1121C>T SKCM-US 4 148985629 148985629 single base substitution C T missense_variant S748F 2243C>T SKCM-US 4 148985629 148985629 single base substitution C T upstream_gene_variant STAD-US 4 148744110 148744110 single base substitution T C splice_donor_variant STAD-US 4 148803060 148803060 single base substitution T C 5_prime_UTR_variant STAD-US 4 148803060 148803060 single base substitution T C exon_variant STAD-US 4 148803060 148803060 single base substitution T C synonymous_variant C14C 42T>C STAD-US 4 148803060 148803060 single base substitution T C synonymous_variant C337C 1011T>C STAD-US 4 148827846 148827846 single base substitution G A exon_variant STAD-US 4 148827846 148827846 single base substitution G A synonymous_variant L13L 39G>A STAD-US 4 148827846 148827846 single base substitution G A synonymous_variant L364L 1092G>A STAD-US 4 148827846 148827846 single base substitution G A synonymous_variant L41L 123G>A STAD-US 4 148984398 148984398 single base substitution G A exon_variant STAD-US 4 148984398 148984398 single base substitution G A intron_variant STAD-US 4 148984398 148984398 single base substitution G A synonymous_variant S709S 2127G>A STAD-US 4 148984398 148984398 single base substitution G A upstream_gene_variant STAD-US 4 148993227 148993227 single base substitution C T exon_variant STAD-US 4 148993227 148993227 single base substitution C T synonymous_variant L384L 1150C>T STAD-US 4 148993227 148993227 single base substitution C T synonymous_variant L412L 1234C>T STAD-US 4 148993227 148993227 single base substitution C T synonymous_variant L786L 2356C>T THCA-SA 4 148743907 148743907 single base substitution C T exon_variant THCA-SA 4 148743907 148743907 single base substitution C T missense_variant H62Y 184C>T UCEC-US 4 148653564 148653564 single base substitution G T exon_variant UCEC-US 4 148653564 148653564 single base substitution G T stop_gained E38* 112G>T UCEC-US 4 148768338 148768338 single base substitution G T exon_variant UCEC-US 4 148768338 148768338 single base substitution G T stop_gained E117* 349G>T UCEC-US 4 148778715 148778715 single base substitution G T exon_variant UCEC-US 4 148778715 148778715 single base substitution G T missense_variant K132N 396G>T UCEC-US 4 148778715 148778715 single base substitution G T upstream_gene_variant UCEC-US 4 148786088 148786088 single base substitution A C exon_variant UCEC-US 4 148786088 148786088 single base substitution A C missense_variant K193T 578A>C UCEC-US 4 148787875 148787875 single base substitution T G exon_variant UCEC-US 4 148787875 148787875 single base substitution T G missense_variant F204V 610T>G UCEC-US 4 148787911 148787911 single base substitution G T exon_variant UCEC-US 4 148787911 148787911 single base substitution G T stop_gained E216* 646G>T UCEC-US 4 148796182 148796182 single base substitution G A exon_variant UCEC-US 4 148796182 148796182 single base substitution G A missense_variant R238Q 713G>A UCEC-US 4 148796254 148796254 single base substitution G T exon_variant UCEC-US 4 148796254 148796254 single base substitution G T missense_variant R262L 785G>T UCEC-US 4 148800422 148800422 single base substitution G A exon_variant UCEC-US 4 148800422 148800422 single base substitution G A missense_variant C291Y 872G>A UCEC-US 4 148800422 148800422 single base substitution G A upstream_gene_variant UCEC-US 4 148803082 148803082 single base substitution C T missense_variant R22W 64C>T UCEC-US 4 148803082 148803082 single base substitution C T missense_variant R345W 1033C>T UCEC-US 4 148803082 148803082 single base substitution C T splice_region_variant UCEC-US 4 148830882 148830882 single base substitution G T splice_acceptor_variant UCEC-US 4 148867828 148867828 single base substitution T C exon_variant UCEC-US 4 148867828 148867828 single base substitution T C missense_variant I104T 311T>C UCEC-US 4 148867828 148867828 single base substitution T C missense_variant I132T 395T>C UCEC-US 4 148867828 148867828 single base substitution T C missense_variant I455T 1364T>C UCEC-US 4 148867849 148867849 single base substitution A G exon_variant UCEC-US 4 148867849 148867849 single base substitution A G missense_variant Y111C 332A>G UCEC-US 4 148867849 148867849 single base substitution A G missense_variant Y139C 416A>G UCEC-US 4 148867849 148867849 single base substitution A G missense_variant Y462C 1385A>G UCEC-US 4 148876522 148876522 single base substitution G A exon_variant UCEC-US 4 148876522 148876522 single base substitution G A missense_variant A132T 394G>A UCEC-US 4 148876522 148876522 single base substitution G A missense_variant A160T 478G>A UCEC-US 4 148876522 148876522 single base substitution G A missense_variant A483T 1447G>A UCEC-US 4 148886206 148886206 single base substitution G A exon_variant UCEC-US 4 148886206 148886206 single base substitution G A synonymous_variant A143A 429G>A UCEC-US 4 148886206 148886206 single base substitution G A synonymous_variant A171A 513G>A UCEC-US 4 148886206 148886206 single base substitution G A synonymous_variant A494A 1482G>A UCEC-US 4 148886229 148886229 single base substitution T C exon_variant UCEC-US 4 148886229 148886229 single base substitution T C missense_variant L151P 452T>C UCEC-US 4 148886229 148886229 single base substitution T C missense_variant L179P 536T>C UCEC-US 4 148886229 148886229 single base substitution T C missense_variant L502P 1505T>C UCEC-US 4 148944496 148944496 single base substitution C T exon_variant UCEC-US 4 148944496 148944496 single base substitution C T missense_variant S249L 746C>T UCEC-US 4 148944496 148944496 single base substitution C T missense_variant S277L 830C>T UCEC-US 4 148944496 148944496 single base substitution C T missense_variant S600L 1799C>T UCEC-US 4 148968114 148968114 single base substitution G A exon_variant UCEC-US 4 148968114 148968114 single base substitution G A missense_variant V296M 886G>A UCEC-US 4 148968114 148968114 single base substitution G A missense_variant V324M 970G>A UCEC-US 4 148968114 148968114 single base substitution G A missense_variant V647M 1939G>A UCEC-US 4 148984317 148984317 single base substitution G A exon_variant UCEC-US 4 148984317 148984317 single base substitution G A intron_variant UCEC-US 4 148984317 148984317 single base substitution G A synonymous_variant S682S 2046G>A UCEC-US 4 148984317 148984317 single base substitution G A upstream_gene_variant UCEC-US 4 148984319 148984319 single base substitution C T exon_variant UCEC-US 4 148984319 148984319 single base substitution C T intron_variant UCEC-US 4 148984319 148984319 single base substitution C T missense_variant S683F 2048C>T UCEC-US 4 148984319 148984319 single base substitution C T upstream_gene_variant UCEC-US 4 148985621 148985621 single base substitution G A downstream_gene_variant UCEC-US 4 148985621 148985621 single base substitution G A exon_variant UCEC-US 4 148985621 148985621 single base substitution G A synonymous_variant S343S 1029G>A UCEC-US 4 148985621 148985621 single base substitution G A synonymous_variant S371S 1113G>A UCEC-US 4 148985621 148985621 single base substitution G A synonymous_variant S745S 2235G>A UCEC-US 4 148985621 148985621 single base substitution G A upstream_gene_variant

Mutation - COSMIC Sample Name Mutation ID Mutation CDS Mutation AA Mutation Description Mutation Genome Position Mutation Strand YURIDA COSM1695059 c.2212C>T p.P738S Substitution - Missense 4:148064447-148064447 + TCGA-DD-A119-01 COSM4919790 c.2132C>A p.P711H Substitution - Missense 4:148063252-148063252 + 2293767 COSM4607160 c.1262G>A p.G421E Substitution - Missense 4:147939858-147939858 + TCGA-D8-A1JA-01 COSM3825316 c.759C>G p.I253M Substitution - Missense 4:147875077-147875077 + TCGA-70-6722-01 COSM732443 c.170A>T p.Q57L Substitution - Missense 4:147822742-147822742 + TCGA-KK-A5A1-01 COSM4392044 c.585G>T p.E195D Substitution - Missense 4:147864944-147864944 + T2269 COSM4662706 c.587T>C p.F196S Substitution - Missense 4:147864946-147864946 + LUAD-YINHD COSM350973 c.192C>G p.L64L Substitution - coding silent 4:147822764-147822764 + 61 COSM5737112 c.1765T>C p.S589P Substitution - Missense 4:148023311-148023311 + TCGA-AP-A0LM-01 COSM1051865 c.349G>T p.E117* Substitution - Nonsense 4:147847187-147847187 + STC291 COSM5060162 c.2191C>T p.R731W Substitution - Missense 4:148064426-148064426 + HCC119T COSM1618465 c.414A>G p.T138T Substitution - coding silent 4:147857582-147857582 + TCGA-HC-7232-01 COSM4393606 c.944A>G p.D315G Substitution - Missense 4:147881842-147881842 + TCGA-EE-A2GP-06 COSM3600789 c.1937C>T p.P646L Substitution - Missense 4:148046961-148046961 + HCC1 COSM1618466 c.940-1G>A p.? Unknown 4:147881837-147881837 + TCGA-D1-A15X-01 COSM1051876 c.1385A>G p.Y462C Substitution - Missense 4:147946698-147946698 + LS411 COSM3127221 c.607delT p.Q205fs*46 Deletion - Frameshift 4:147866721-147866721 + TCGA-BS-A0UF-01 COSM1051867 c.578A>C p.K193T Substitution - Missense 4:147864937-147864937 + 11_17815 COSM1644399 c.425A>G p.Y142C Substitution - Missense 4:147857593-147857593 + TCGA-FW-A3R5-06 COSM3917232 c.1961C>T p.P654L Substitution - Missense 4:148046985-148046985 + SW48 COSM3127256 c.2318G>A p.G773D Substitution - Missense 4:148072038-148072038 + TCGA-EE-A29B-06 COSM3600791 c.2243C>T p.S748F Substitution - Missense 4:148064478-148064478 + T3724 COSM4662708 c.1303+2T>C p.? Unknown 4:147939901-147939901 + CHC302T COSM217302 c.1559T>A p.V520D Substitution - Missense 4:147966682-147966682 + TCGA-BP-5006-01 COSM480935 c.1269T>A p.S423R Substitution - Missense 4:147939865-147939865 + HCC46 COSM3660916 c.530T>C p.L177P Substitution - Missense 4:147864889-147864889 + CSCC-31-T COSM4477250 c.2137C>T p.P713S Substitution - Missense 4:148063257-148063257 + B14-Tumor COSM1753561 c.487-2A>G p.? Unknown 4:147864844-147864844 + 587226 COSM1183349 c.842C>T p.P281L Substitution - Missense 4:147879241-147879241 + TCGA-AP-A0LM-01 COSM1051880 c.1799C>T p.S600L Substitution - Missense 4:148023345-148023345 + RK189_C01 COSM1633484 c.385-7T>A p.? Unknown 4:147857546-147857546 + TCGA-BR-6452-01 COSM4122632 c.1011T>C p.C337C Substitution - coding silent 4:147881909-147881909 + TCGA-EE-A2MI-06 COSM3600788 c.1915G>A p.D639N Substitution - Missense 4:148046939-148046939 + TCGA-AP-A0LM-01 COSM1051874 c.1117-1G>T p.? Unknown 4:147909731-147909731 + LS174T COSM3127239 c.1594G>A p.A532T Substitution - Missense 4:147966717-147966717 + N571T COSM236022 c.1057C>A p.Q353K Substitution - Missense 4:147906660-147906660 + pfg008T COSM1642420 c.1995T>C p.D665D Substitution - coding silent 4:148047019-148047019 + PT52 COSM4442173 c.880C>T p.R294* Substitution - Nonsense 4:147879279-147879279 + SNUH_G02_S1 COSM1183350 c.1042G>A p.V348I Substitution - Missense 4:147906645-147906645 + 587284 COSM1183355 c.538G>A p.E180K Substitution - Missense 4:147864897-147864897 + TCGA-A5-A0GB-01 COSM1051878 c.1482G>A p.A494A Substitution - coding silent 4:147965055-147965055 + 587238 COSM1183350 c.1042G>A p.V348I Substitution - Missense 4:147906645-147906645 + CRC-21T COSM1051881 c.1939G>A p.V647M Substitution - Missense 4:148046963-148046963 + HCT8 COSM1671356 c.836C>A p.P279H Substitution - Missense 4:147879235-147879235 + 587278 COSM1183354 c.1674T>G p.F558L Substitution - Missense 4:147966797-147966797 + TCGA-A2-A0D1-01 COSM447462 c.2214G>A p.P738P Substitution - coding silent 4:148064449-148064449 + HCC1T COSM1618466 c.940-1G>A p.? Unknown 4:147881837-147881837 + C0018T COSM4155010 c.1582C>T p.L528L Substitution - coding silent 4:147966705-147966705 + N701T COSM236054 c.457G>T p.A153S Substitution - Missense 4:147857625-147857625 + CHC1081T COSM4791171 c.1554A>G p.T518T Substitution - coding silent 4:147965127-147965127 + ESO-717 COSM1241997 c.805G>A p.E269K Substitution - Missense 4:147875123-147875123 + HCT15 COSM1671356 c.836C>A p.P279H Substitution - Missense 4:147879235-147879235 + NCI-H1770 COSM18230 c.1599C>T p.N533N Substitution - coding silent 4:147966722-147966722 + 304_T COSM3946054 c.2285G>T p.R762M Substitution - Missense 4:148072005-148072005 + TCGA-F5-6814-01 COSM3428213 c.304G>A p.E102K Substitution - Missense 4:147822949-147822949 + ESO-191 COSM1245317 c.2186G>T p.R729L Substitution - Missense 4:148064421-148064421 + HX10T COSM1618464 c.31T>A p.C11S Substitution - Missense 4:147732332-147732332 + CSCC-18-T COSM4458775 c.1099C>T p.L367L Substitution - coding silent 4:147906702-147906702 + T3724 COSM4662709 c.1785G>A p.A595A Substitution - coding silent 4:148023331-148023331 + S00938 COSM5663451 c.1817G>T p.R606I Substitution - Missense 4:148023363-148023363 + C467 COSM4442174 c.1784C>T p.A595V Substitution - Missense 4:148023330-148023330 + PTC-7C COSM3127232 c.1248G>A p.L416L Substitution - coding silent 4:147939844-147939844 + CSCC-7-T COSM4474619 c.1931C>T p.P644L Substitution - Missense 4:148046955-148046955 + TCGA-D3-A3ML-06 COSM3600781 c.1067C>T p.S356F Substitution - Missense 4:147906670-147906670 + WT039 COSM1633483 c.385-8A>T p.? Unknown 4:147857545-147857545 + TCGA-B5-A0JT-01 COSM1051881 c.1939G>A p.V647M Substitution - Missense 4:148046963-148046963 + sysucc-311T COSM5466066 c.440A>C p.K147T Substitution - Missense 4:147857608-147857608 + RK308_C01 COSM1051870 c.713G>A p.R238Q Substitution - Missense 4:147875031-147875031 + sysucc-1163T COSM5459092 c.384+2T>G p.? Unknown 4:147847224-147847224 + TCGA-AP-A051-01 COSM1051886 c.2235G>A p.S745S Substitution - coding silent 4:148064470-148064470 + TCGA-BG-A18B-01 COSM1051879 c.1505T>C p.L502P Substitution - Missense 4:147965078-147965078 + TCGA-J9-A52C-01 COSM4877660 c.1455C>T p.S485S Substitution - coding silent 4:147965028-147965028 + TCGA-EE-A20F-06 COSM3600783 c.1445C>A p.P482Q Substitution - Missense 4:147955369-147955369 + HCC46T COSM3660916 c.530T>C p.L177P Substitution - Missense 4:147864889-147864889 + C0047T COSM4155009 c.703A>G p.T235A Substitution - Missense 4:147875021-147875021 + HCC119 COSM1618465 c.414A>G p.T138T Substitution - coding silent 4:147857582-147857582 + C058 COSM5524601 c.1747C>T p.P583S Substitution - Missense 4:148023293-148023293 + pfg127T COSM4762454 c.1435T>C p.F479L Substitution - Missense 4:147955359-147955359 + 587220 COSM1183350 c.1042G>A p.V348I Substitution - Missense 4:147906645-147906645 + 262T COSM4386498 c.565C>T p.Q189* Substitution - Nonsense 4:147864924-147864924 + TCGA-G4-6628-01 COSM1427441 c.1392-1G>T p.? Unknown 4:147955315-147955315 + ESO-105 COSM1245316 c.2041C>A p.R681R Substitution - coding silent 4:148063161-148063161 + TCGA-AP-A056-01 COSM1051870 c.713G>A p.R238Q Substitution - Missense 4:147875031-147875031 + pfg103T COSM4584832 c.2192G>A p.R731Q Substitution - Missense 4:148064427-148064427 + LS180 COSM3127239 c.1594G>A p.A532T Substitution - Missense 4:147966717-147966717 + CHC302T COSM217302 c.1559T>A p.V520D Substitution - Missense 4:147966682-147966682 + BK0015 COSM4185869 c.1718delT p.R575fs*73 Deletion - Frameshift 4:148023264-148023264 + HCT-15 COSM1671356 c.836C>A p.P279H Substitution - Missense 4:147879235-147879235 + TCGA-EE-A3JD-06 COSM4395328 c.285G>A p.K95K Substitution - coding silent 4:147822930-147822930 + SJDES009 COSM3127257 c.2346C>T p.Y782Y Substitution - coding silent 4:148072066-148072066 + TCGA-EI-6917-01 COSM3428214 c.304G>T p.E102* Substitution - Nonsense 4:147822949-147822949 + PTC_103 COSM5959809 c.184C>T p.H62Y Substitution - Missense 4:147822756-147822756 + LUAD-RT-S01487 COSM377950 c.538G>T p.E180* Substitution - Nonsense 4:147864897-147864897 + TCGA-AP-A0LM-01 COSM1051882 c.2046G>A p.S682S Substitution - coding silent 4:148063166-148063166 + TCGA-A6-6649-01 COSM1427439 c.843G>A p.P281P Substitution - coding silent 4:147879242-147879242 + S02397 COSM5699299 c.236A>T p.D79V Substitution - Missense 4:147822808-147822808 + S00944 COSM309229 c.1185G>T p.G395G Substitution - coding silent 4:147913096-147913096 + Gp2D COSM3127254 c.2186G>A p.R729H Substitution - Missense 4:148064421-148064421 + CSB3 COSM5026226 c.1799C>G p.S600W Substitution - Missense 4:148023345-148023345 + TCGA-C8-A3M7-01 COSM3825315 c.613C>T p.Q205* Substitution - Nonsense 4:147866727-147866727 + CDGLIV0504A0086_T COSM5039802 c.931G>A p.G311R Substitution - Missense 4:147879330-147879330 + WSU-HN6 COSM4602011 c.109A>T p.K37* Substitution - Nonsense 4:147732410-147732410 + S02289 COSM5686160 c.1725G>T p.R575R Substitution - coding silent 4:148023271-148023271 + TCGA-D1-A17Q-01 COSM1051871 c.785G>T p.R262L Substitution - Missense 4:147875103-147875103 + C467 COSM4442173 c.880C>T p.R294* Substitution - Nonsense 4:147879279-147879279 + TCGA-AP-A0LG-01 COSM1051872 c.872G>A p.C291Y Substitution - Missense 4:147879271-147879271 + TCGA-D3-A2JF-06 COSM3600790 c.2197G>C p.A733P Substitution - Missense 4:148064432-148064432 + TCGA-DD-A39X-01 COSM4940803 c.385-2A>G p.? Unknown 4:147857551-147857551 + HCC037T COSM5811900 c.1963C>T p.P655S Substitution - Missense 4:148046987-148046987 + OSCC-GB_00920111 COSM4881726 c.36C>A p.Y12* Substitution - Nonsense 4:147732337-147732337 + TCGA-46-6025-01 COSM732441 c.1974C>G p.D658E Substitution - Missense 4:148046998-148046998 + PT52 COSM5939207 c.1391+8C>T p.? Unknown 4:147946712-147946712 + TCGA-CG-5721-01 COSM4122635 c.2356C>T p.L786L Substitution - coding silent 4:148072076-148072076 + MZ7-mel COSM18239 c.897G>A p.K299K Substitution - coding silent 4:147879296-147879296 + 2334196 COSM318749 c.2346C>G p.Y782* Substitution - Nonsense 4:148072066-148072066 + PT37 COSM5918345 c.1648G>A p.V550I Substitution - Missense 4:147966771-147966771 + RK126_C01 COSM1633485 c.498A>C p.Q166H Substitution - Missense 4:147864857-147864857 + TCGA-EE-A2A2-06 COSM3600782 c.1366A>C p.T456P Substitution - Missense 4:147946679-147946679 + TCGA-D1-A16N-01 COSM1051885 c.2115T>G p.L705L Substitution - coding silent 4:148063235-148063235 + TCGA-EE-A29M-06 COSM3600785 c.1695C>T p.I565I Substitution - coding silent 4:147966818-147966818 + TCGA-DD-A119-01 COSM4919802 c.946G>T p.G316* Substitution - Nonsense 4:147881844-147881844 + U343 COSM5712296 c.1354G>A p.V452M Substitution - Missense 4:147946667-147946667 + TCGA-G4-6588-01 COSM1427442 c.1651G>A p.A551T Substitution - Missense 4:147966774-147966774 + 587224 COSM1183351 c.1612T>C p.F538L Substitution - Missense 4:147966735-147966735 + 8062308 COSM84872 c.2261T>A p.I754N Substitution - Missense 4:148064496-148064496 + TCGA-BC-A110-01 COSM3127236 c.1472G>A p.R491H Substitution - Missense 4:147965045-147965045 + LUAD-CHTN-3090416 COSM357604 c.630C>T p.F210F Substitution - coding silent 4:147866744-147866744 + TCGA-EE-A29E-06 COSM3600780 c.167C>T p.A56V Substitution - Missense 4:147822739-147822739 + CSCC-27-T COSM4471858 c.1746C>T p.F582F Substitution - coding silent 4:148023292-148023292 + B14 COSM1753561 c.487-2A>G p.? Unknown 4:147864844-147864844 + RK070_C01 COSM3767722 c.945C>G p.D315E Substitution - Missense 4:147881843-147881843 + TCGA-BR-8081-01 COSM4122633 c.1092G>A p.L364L Substitution - coding silent 4:147906695-147906695 + TCGA-AA-A010-01 COSM278943 c.353A>C p.K118T Substitution - Missense 4:147847191-147847191 + YUFLA COSM1695058 c.769C>T p.P257S Substitution - Missense 4:147875087-147875087 + TCGA-AX-A05Z-01 COSM1051873 c.1033C>T p.R345W Substitution - Missense 4:147881931-147881931 + CSCC-45-T COSM4535410 c.218G>A p.G73D Substitution - Missense 4:147822790-147822790 + TCGA-AM-5820-01 COSM3696471 c.1625T>C p.L542P Substitution - Missense 4:147966748-147966748 + ESCC-243T COSM3940765 c.2041C>T p.R681* Substitution - Nonsense 4:148063161-148063161 + TCGA-AX-A05Z-01 COSM1051866 c.396G>T p.K132N Substitution - Missense 4:147857564-147857564 + CHEWS008 COSM4584832 c.2192G>A p.R731Q Substitution - Missense 4:148064427-148064427 + TCGA-BR-8360-01 COSM4122631 c.312+2T>C p.? Unknown 4:147822959-147822959 + OV207 COSM252356 c.35A>G p.Y12C Substitution - Missense 4:147732336-147732336 + S00944 COSM309229 c.1185G>T p.G395G Substitution - coding silent 4:147913096-147913096 + TCGA-D3-A3CC-06 COSM3600787 c.1850G>A p.C617Y Substitution - Missense 4:148023396-148023396 + TCGA-BP-4801-01 COSM480936 c.1275G>C p.K425N Substitution - Missense 4:147939871-147939871 + TCGA-06-6695-01 COSM3409081 c.1724G>A p.R575Q Substitution - Missense 4:148023270-148023270 + PR-2915 COSM243017 c.1418A>T p.Y473F Substitution - Missense 4:147955342-147955342 + TCGA-CG-5728-01 COSM4122634 c.2127G>A p.S709S Substitution - coding silent 4:148063247-148063247 + 33T COSM3714712 c.568G>C p.E190Q Substitution - Missense 4:147864927-147864927 + TCGA-Q1-A73O-01 COSM4836329 c.54C>G p.F18L Substitution - Missense 4:147732355-147732355 + TCGA-B5-A11E-01 COSM1051883 c.2048C>T p.S683F Substitution - Missense 4:148063168-148063168 + 2171673 COSM4423310 c.1628T>C p.M543T Substitution - Missense 4:147966751-147966751 + BD72T COSM5512076 c.1716+7delT p.? Unknown 4:147966846-147966846 + CHC2208T COSM4953088 c.299A>G p.Q100R Substitution - Missense 4:147822944-147822944 + TCGA-A6-6653-01 COSM1427443 c.1774delC p.P593fs*55 Deletion - Frameshift 4:148023320-148023320 + ESO-0013 COSM1245315 c.2324G>A p.R775K Substitution - Missense 4:148072044-148072044 + TCGA-A5-A0VP-01 COSM1051875 c.1364T>C p.I455T Substitution - Missense 4:147946677-147946677 + OSCC-GB_00590111 COSM4888626 c.1197C>T p.I399I Substitution - coding silent 4:147913108-147913108 + MZ7-mel COSM18217 c.1817G>A p.R606K Substitution - Missense 4:148023363-148023363 + CHC302T COSM217302 c.1559T>A p.V520D Substitution - Missense 4:147966682-147966682 + C608 COSM4442978 c.1558G>A p.V520I Substitution - Missense 4:147966681-147966681 + T578 COSM4662707 c.1034+1G>A p.? Unknown 4:147881933-147881933 + SNUH_G73_S1 COSM4415472 c.1770A>G p.A590A Substitution - coding silent 4:148023316-148023316 + T1764 COSM4442173 c.880C>T p.R294* Substitution - Nonsense 4:147879279-147879279 + 587222 COSM1183353 c.1216G>A p.V406I Substitution - Missense 4:147913127-147913127 + 3N60-VS-3T60 COSM4984331 c.1979A>T p.N660I Substitution - Missense 4:148047003-148047003 + TCGA-DK-A1AF-01 COSM1309789 c.250+1G>A p.? Unknown 4:147822823-147822823 + Case1d COSM1717199 c.1190C>G p.T397R Substitution - Missense 4:147913101-147913101 + SS6003306 COSM5951100 c.750G>T p.M250I Substitution - Missense 4:147875068-147875068 + 721LT COSM3127236 c.1472G>A p.R491H Substitution - Missense 4:147965045-147965045 + Pa14C COSM84872 c.2261T>A p.I754N Substitution - Missense 4:148064496-148064496 + CHC1081T COSM4791171 c.1554A>G p.T518T Substitution - coding silent 4:147965127-147965127 + TCGA-43-6647-01 COSM732442 c.1392-2A>G p.? Unknown 4:147955314-147955314 + TCGA-BS-A0UV-01 COSM1051864 c.112G>T p.E38* Substitution - Nonsense 4:147732413-147732413 + TCGA-46-6025-01 COSM732444 c.37C>A p.L13I Substitution - Missense 4:147732338-147732338 + TCGA-EE-A182-06 COSM3600784 c.1662G>A p.M554I Substitution - Missense 4:147966785-147966785 + TCGA-D1-A16N-01 COSM1051884 c.2112T>A p.P704P Substitution - coding silent 4:148063232-148063232 + DLD1 COSM1671356 c.836C>A p.P279H Substitution - Missense 4:147879235-147879235 + 587376 COSM1183356 c.1199G>T p.R400I Substitution - Missense 4:147913110-147913110 + T22 COSM5344629 c.495C>G p.I165M Substitution - Missense 4:147864854-147864854 + 587224 COSM1183352 c.2029C>A p.P677T Substitution - Missense 4:148063149-148063149 + TCGA-AX-A05Z-01 COSM1051868 c.610T>G p.F204V Substitution - Missense 4:147866724-147866724 + RK189_C01 COSM1633483 c.385-8A>T p.? Unknown 4:147857545-147857545 + CHC2208T COSM4953088 c.299A>G p.Q100R Substitution - Missense 4:147822944-147822944 + OSCC-GB_00330111 COSM3714712 c.568G>C p.E190Q Substitution - Missense 4:147864927-147864927 + TCGA-BS-A0UF-01 COSM1051869 c.646G>T p.E216* Substitution - Nonsense 4:147866760-147866760 + 2179 COSM377950 c.538G>T p.E180* Substitution - Nonsense 4:147864897-147864897 + J30_T COSM3946053 c.2011G>T p.D671Y Substitution - Missense 4:148047035-148047035 + TCGA-D1-A15X-01 COSM1051877 c.1447G>A p.A483T Substitution - Missense 4:147955371-147955371 + TCGA-EE-A3AH-06 COSM3600786 c.1723C>T p.R575W Substitution - Missense 4:148023269-148023269 + LP6007508-DNA_A01 COSM5951925 c.1162+5G>T p.? Unknown 4:147909782-147909782 +

Mutation - CGAP UNIGENE CYTOBAND OMIM SNP Hs.368631 4q31.23 609746

Mutation - IntOGen Mutated from(ref) Mutated to(alt) Consequence Type AA Mutation CDS Mutation Chr Pos Cancer A C Missense p.Q166H c.498A>C 4 148786008 HC A C Missense p.T456P c.1366A>C 4 148867830 CM A - Frameshift p.K370Rfs*42 c.1109delA 4 148827861 CM A G IntronicSNV . c.1228+10800A>G 4 148845090 PIA A G IntronicSNV . c.1868-4983A>G 4 148963060 CLL A G Missense p.D315G c.944A>G 4 148802993 CM A G Missense p.M471V c.1411A>G 4 148876486 LUAD A G SpliceAcceptorSNV . c.1392-2A>G 4 148876465 LUSC A T Missense p.Q57L c.170A>T 4 148743893 LUSC C A Missense p.L13I c.37C>A 4 148653489 LUSC C A Synonymous p.R681R c.2041C>A 4 148984312 ESCA C G Missense p.D658E c.1974C>G 4 148968149 LUSC C G Missense p.P593R c.1778C>G 4 148944475 HNSC C G Missense p.S600W c.1799C>G 4 148944496 BRCA C G Missense p.S715C c.2144C>G 4 148984415 HNSC C G Nonsense p.Y782* c.2346C>G 4 148993217 SCLC C T IntronicSNV . c.2181-33C>T 4 148985534 CM C T IntronicSNV . c.313-1017C>T 4 148767285 CLL C T Missense p.P646L c.1937C>T 4 148968112 CM C T Missense p.R575W c.1723C>T 4 148944420 CM C T Missense p.S356F c.1067C>T 4 148827821 CM C T Missense p.S748F c.2243C>T 4 148985629 CM C T Nonsense p.R409* c.1225C>T 4 148834287 MM C T Synonymous p.A552A c.1656C>T 4 148887930 CM C T Synonymous p.I303I c.909C>T 4 148800459 CM C T Synonymous p.V274V c.822C>T 4 148796291 LUAD G A Missense p.C291Y c.872G>A 4 148800422 UCEC G A Missense p.C617Y c.1850G>A 4 148944547 CM G A Missense p.D639N c.1915G>A 4 148968090 CM G A Missense p.E441K c.1321G>A 4 148867785 HNSC G A Missense p.M554I c.1662G>A 4 148887936 CM G A Missense p.R575Q c.1724G>A 4 148944421 GBM G A Missense p.R775K c.2324G>A 4 148993195 ESCA G A Missense p.V647M c.1939G>A 4 148968114 UCEC G A SpliceDonorSNV . c.250+1G>A 4 148743974 BLCA G A Synonymous p.A494A c.1482G>A 4 148886206 UCEC G A Synonymous p.K95K c.285G>A 4 148744081 CM G A Synonymous p.L638L c.1914G>A 4 148968089 CM G A Synonymous p.P281P c.843G>A 4 148800393 HNSC G A Synonymous p.P738P c.2214G>A 4 148985600 BRCA G A Synonymous p.S709S c.2127G>A 4 148984398 STAD G C Missense p.A733P c.2197G>C 4 148985583 CM G C Missense p.K425N c.1275G>C 4 148861022 RCCC GG AA Missense p.G283N c.847_848delinsAA 4 148800397 CM G T Missense p.E195D c.585G>T 4 148786095 PRAD G T Missense p.R491L c.1472G>T 4 148886196 HNSC G T SpliceDonorSNV . c.312+1G>T 4 148744109 LUAD G T Synonymous p.G395G c.1185G>T 4 148834247 SCLC T A IntronicSNV . c.155-24990T>A 4 148718888 CLL T A Missense p.I754N c.2261T>A 4 148985647 PAAD T A Missense p.S423R c.1269T>A 4 148861016 RCCC T A Missense p.V520D c.1559T>A 4 148887833 HC T C IntronicSNV . c.1117-999T>C 4 148829884 CLL T C IntronicSNV . c.2027+5970T>C 4 148974172 PIA T C IntronicSNV . c.313-5313T>C 4 148762989 CLL T C Missense p.I455T c.1364T>C 4 148867828 UCEC T C Missense p.L502P c.1505T>C 4 148886229 UCEC T C Missense p.M250T c.749T>C 4 148796218 LUAD T C Synonymous p.D665D c.1995T>C 4 148968170 STAD