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 54439911 54439911 + Missense_Mutation SNP A A T TCGA-OR-A5L4-01A-11D-A29I-10 TCGA-OR-A5L4-10A-01D-A29L-10 g.chr4:54439911A>T c.259T>A c.(259-261)Tgc>Agc p.C87S ACC 4 54440019 54440019 + Missense_Mutation SNP G G A TCGA-OR-A5L4-01A-11D-A29I-10 TCGA-OR-A5L4-10A-01D-A29L-10 g.chr4:54440019G>A c.151C>T c.(151-153)Ccc>Tcc p.P51S BLCA 4 54327641 54327641 + Missense_Mutation SNP A A G TCGA-FD-A43X-01A-11D-A23U-08 TCGA-FD-A43X-10A-01D-A23U-08 g.chr4:54327641A>G c.2012T>C c.(2011-2013)aTt>aCt p.I671T BLCA 4 54342918 54342918 + Splice_Site DEL A A - TCGA-DK-A3IS-01A-21D-A21A-08 TCGA-DK-A3IS-10A-01D-A21A-08 g.chr4:54342918delA c.e9+1 BLCA 4 54374161 54374161 + Missense_Mutation SNP C C T TCGA-FD-A3SN-01A-12D-A22Z-08 TCGA-FD-A3SN-10A-01D-A22Z-08 g.chr4:54374161C>T c.614G>A c.(613-615)cGa>cAa p.R205Q BLCA 4 54374302 54374302 + Missense_Mutation SNP G G A TCGA-ZF-A9R0-01A-11D-A38G-08 TCGA-ZF-A9R0-10A-01D-A38J-08 g.chr4:54374302G>A c.473C>T c.(472-474)aCg>aTg p.T158M BLCA 4 54424120 54424120 + Intron SNP G G A TCGA-DK-A3WW-01A-22D-A23M-08 TCGA-DK-A3WW-10A-01D-A23K-08 g.chr4:54424120G>A BRCA 4 54327695 54327695 + Missense_Mutation SNP A A G TCGA-A7-A4SE-01A-11D-A25Q-09 TCGA-A7-A4SE-10A-01D-A25Q-09 g.chr4:54327695A>G c.1958T>C c.(1957-1959)aTt>aCt p.I653T BRCA 4 54342967 54342967 + Silent SNP T T G TCGA-A2-A0T5-01A-21D-A099-09 TCGA-A2-A0T5-10A-01D-A099-09 g.chr4:54342967T>G c.1845A>C c.(1843-1845)ccA>ccC p.P615P BRCA 4 54343119 54343119 + Missense_Mutation SNP C C T TCGA-AC-A23C-01A-12D-A167-09 TCGA-AC-A23C-10A-01D-A167-09 g.chr4:54343119C>T c.1693G>A c.(1693-1695)Gaa>Aaa p.E565K BRCA 4 54362417 54362417 + Missense_Mutation SNP G G A TCGA-A8-A09I-01A-22W-A050-09 TCGA-A8-A09I-10A-01W-A055-09 g.chr4:54362417G>A c.1123C>T c.(1123-1125)Ccc>Tcc p.P375S BRCA 4 54362419 54362419 + Missense_Mutation SNP C C G TCGA-D8-A1XL-01A-11D-A14K-09 TCGA-D8-A1XL-10A-01D-A14K-09 g.chr4:54362419C>G c.1121G>C c.(1120-1122)aGa>aCa p.R374T BRCA 4 54362438 54362438 + Missense_Mutation SNP G G T TCGA-C8-A138-01A-11D-A10Y-09 TCGA-C8-A138-10A-01D-A110-09 g.chr4:54362438G>T c.1102C>A c.(1102-1104)Cag>Aag p.Q368K BRCA 4 54364837 54364837 + Silent SNP G G T TCGA-BH-A0E6-01A-11W-A050-09 TCGA-BH-A0E6-10A-01W-A055-09 g.chr4:54364837G>T c.949C>A c.(949-951)Cgg>Agg p.R317R BRCA 4 54364970 54364970 + Silent SNP A A T TCGA-D8-A1XK-01A-21D-A14K-09 TCGA-D8-A1XK-10A-01D-A14K-09 g.chr4:54364970A>T c.816T>A c.(814-816)atT>atA p.I272I BRCA 4 54373554 54373554 + Missense_Mutation SNP C C G TCGA-EW-A3E8-01B-11D-A243-09 TCGA-EW-A3E8-10A-01D-A243-09 g.chr4:54373554C>G c.705G>C c.(703-705)aaG>aaC p.K235N BRCA 4 54374205 54374205 + Silent SNP G G A TCGA-D8-A1XW-01A-11D-A14K-09 TCGA-D8-A1XW-10A-01D-A14K-09 g.chr4:54374205G>A c.570C>T c.(568-570)gaC>gaT p.D190D CESC 4 54347998 54347998 + Silent SNP G G A TCGA-JW-A5VL-01A-11D-A28B-09 TCGA-JW-A5VL-10A-01D-A28E-09 g.chr4:54347998G>A c.1374C>T c.(1372-1374)ctC>ctT p.L458L CESC 4 54439888 54439888 + Silent SNP G G A TCGA-Q1-A73O-01A-11D-A32I-09 TCGA-Q1-A73O-10B-01D-A32I-09 g.chr4:54439888G>A c.282C>T c.(280-282)gtC>gtT p.V94V COAD 4 54327078 54327078 + Frame_Shift_Del DEL A A - TCGA-AA-3713-01A-21D-1719-10 TCGA-AA-3713-11A-01D-1719-10 g.chr4:54327078delA c.2183delT c.(2182-2184)ttafs p.L728fs COAD 4 54343101 54343101 + Missense_Mutation SNP G G A TCGA-CK-5913-01A-11D-1650-10 TCGA-CK-5913-10A-01D-1650-10 g.chr4:54343101G>A c.1711C>T c.(1711-1713)Cgg>Tgg p.R571W COAD 4 54344777 54344777 + Missense_Mutation SNP C C T TCGA-AA-3710-01A-01W-0995-10 TCGA-AA-3710-10A-01W-0995-10 g.chr4:54344777C>T c.1618G>A c.(1618-1620)Gtt>Att p.V540I COAD 4 54344819 54344819 + Missense_Mutation SNP C C T TCGA-AA-3949-01A-01W-0995-10 TCGA-AA-3949-10A-01W-0995-10 g.chr4:54344819C>T c.1576G>A c.(1576-1578)Gca>Aca p.A526T COAD 4 54344826 54344826 + Silent SNP T T A TCGA-D5-6924-01A-11D-1924-10 TCGA-D5-6924-10A-01D-1924-10 g.chr4:54344826T>A c.1569A>T c.(1567-1569)gcA>gcT p.A523A COAD 4 54344826 54344826 + Silent SNP T T C TCGA-A6-5661-01A-01D-1650-10 TCGA-A6-5661-10A-01D-1650-10 g.chr4:54344826T>C c.1569A>G c.(1567-1569)gcA>gcG p.A523A COAD 4 54344828 54344828 + Missense_Mutation SNP C C T TCGA-CM-4752-01A-01D-1408-10 TCGA-CM-4752-10A-01D-1408-10 g.chr4:54344828C>T c.1567G>A c.(1567-1569)Gca>Aca p.A523T COAD 4 54344828 54344828 + Missense_Mutation SNP C C T TCGA-CM-5344-01A-21D-1719-10 TCGA-CM-5344-10A-01D-1719-10 g.chr4:54344828C>T c.1567G>A c.(1567-1569)Gca>Aca p.A523T COAD 4 54347988 54347988 + Missense_Mutation SNP G G A TCGA-AA-A00E-01A-01W-A005-10 TCGA-AA-A00E-10A-01W-A005-10 g.chr4:54347988G>A c.1384C>T c.(1384-1386)Cgc>Tgc p.R462C COAD 4 54348021 54348021 + Splice_Site SNP C C T TCGA-AA-3966-01A-01W-1073-09 TCGA-AA-3966-10A-01W-1073-09 g.chr4:54348021C>T c.1351G>A c.(1351-1353)Gcc>Acc p.A451T COAD 4 54362383 54362383 + Missense_Mutation SNP T T G TCGA-CM-5862-01A-01D-1650-10 TCGA-CM-5862-10A-01D-1650-10 g.chr4:54362383T>G c.1157A>C c.(1156-1158)aAa>aCa p.K386T COAD 4 54362536 54362536 + Missense_Mutation SNP A A G TCGA-AZ-4315-01A-01D-1408-10 TCGA-AZ-4315-10A-01D-1408-10 g.chr4:54362536A>G c.1004T>C c.(1003-1005)gTc>gCc p.V335A COAD 4 54364913 54364913 + Silent SNP C C T TCGA-CK-5912-01A-11D-1650-10 TCGA-CK-5912-10A-01D-1650-10 g.chr4:54364913C>T c.873G>A c.(871-873)gtG>gtA p.V291V COAD 4 54373570 54373570 + Missense_Mutation SNP A A G TCGA-AA-A010-01A-01W-A00E-09 TCGA-AA-A010-10A-01W-A00E-09 g.chr4:54373570A>G c.689T>C c.(688-690)gTt>gCt p.V230A COAD 4 54374387 54374387 + Missense_Mutation SNP C C T TCGA-AA-A01P-01A-21W-A096-10 TCGA-AA-A01P-11A-11W-A096-10 g.chr4:54374387C>T c.388G>A c.(388-390)Ggt>Agt p.G130S COAD 4 54424125 54424125 + Intron SNP G G A TCGA-AA-3994-01A-01W-1073-09 TCGA-AA-3994-10A-01W-1073-09 g.chr4:54424125G>A COAD 4 54439821 54439821 + Missense_Mutation SNP G G A TCGA-AA-3492-01A-01D-1408-10 TCGA-AA-3492-11A-01D-1408-10 g.chr4:54439821G>A c.349C>T c.(349-351)Cgc>Tgc p.R117C COAD 4 54439945 54439945 + Silent SNP A A G TCGA-AD-5900-01A-11D-1650-10 TCGA-AD-5900-10A-01D-1650-10 g.chr4:54439945A>G c.225T>C c.(223-225)tgT>tgC p.C75C COADREAD 4 54327078 54327078 + Frame_Shift_Del DEL A A - TCGA-AA-3713-01A-21D-1719-10 TCGA-AA-3713-11A-01D-1719-10 g.chr4:54327078delA c.2183delT c.(2182-2184)ttafs p.L728fs COADREAD 4 54343101 54343101 + Missense_Mutation SNP G G A TCGA-CK-5913-01A-11D-1650-10 TCGA-CK-5913-10A-01D-1650-10 g.chr4:54343101G>A c.1711C>T c.(1711-1713)Cgg>Tgg p.R571W COADREAD 4 54344777 54344777 + Missense_Mutation SNP C C T TCGA-AA-3710-01A-01W-0995-10 TCGA-AA-3710-10A-01W-0995-10 g.chr4:54344777C>T c.1618G>A c.(1618-1620)Gtt>Att p.V540I COADREAD 4 54344807 54344807 + Nonsense_Mutation SNP C C A TCGA-AG-A002-01A-01W-A00K-09 TCGA-AG-A002-10A-01W-A00K-09 g.chr4:54344807C>A c.1588G>T c.(1588-1590)Gaa>Taa p.E530* COADREAD 4 54344819 54344819 + Missense_Mutation SNP C C T TCGA-AA-3949-01A-01W-0995-10 TCGA-AA-3949-10A-01W-0995-10 g.chr4:54344819C>T c.1576G>A c.(1576-1578)Gca>Aca p.A526T COADREAD 4 54344826 54344826 + Silent SNP T T A TCGA-D5-6924-01A-11D-1924-10 TCGA-D5-6924-10A-01D-1924-10 g.chr4:54344826T>A c.1569A>T c.(1567-1569)gcA>gcT p.A523A COADREAD 4 54344826 54344826 + Silent SNP T T C TCGA-A6-5661-01A-01D-1650-10 TCGA-A6-5661-10A-01D-1650-10 g.chr4:54344826T>C c.1569A>G c.(1567-1569)gcA>gcG p.A523A COADREAD 4 54344828 54344828 + Missense_Mutation SNP C C T TCGA-CM-4752-01A-01D-1408-10 TCGA-CM-4752-10A-01D-1408-10 g.chr4:54344828C>T c.1567G>A c.(1567-1569)Gca>Aca p.A523T COADREAD 4 54344828 54344828 + Missense_Mutation SNP C C T TCGA-CM-5344-01A-21D-1719-10 TCGA-CM-5344-10A-01D-1719-10 g.chr4:54344828C>T c.1567G>A c.(1567-1569)Gca>Aca p.A523T COADREAD 4 54344828 54344828 + Missense_Mutation SNP C C T TCGA-EI-6506-01A-11D-1733-10 TCGA-EI-6506-10A-01D-1733-10 g.chr4:54344828C>T c.1567G>A c.(1567-1569)Gca>Aca p.A523T COADREAD 4 54347988 54347988 + Missense_Mutation SNP G G A TCGA-AA-A00E-01A-01W-A005-10 TCGA-AA-A00E-10A-01W-A005-10 g.chr4:54347988G>A c.1384C>T c.(1384-1386)Cgc>Tgc p.R462C COADREAD 4 54348021 54348021 + Splice_Site SNP C C T TCGA-AA-3966-01A-01W-1073-09 TCGA-AA-3966-10A-01W-1073-09 g.chr4:54348021C>T c.1351G>A c.(1351-1353)Gcc>Acc p.A451T COADREAD 4 54362383 54362383 + Missense_Mutation SNP T T G TCGA-CM-5862-01A-01D-1650-10 TCGA-CM-5862-10A-01D-1650-10 g.chr4:54362383T>G c.1157A>C c.(1156-1158)aAa>aCa p.K386T COADREAD 4 54362536 54362536 + Missense_Mutation SNP A A G TCGA-AZ-4315-01A-01D-1408-10 TCGA-AZ-4315-10A-01D-1408-10 g.chr4:54362536A>G c.1004T>C c.(1003-1005)gTc>gCc p.V335A COADREAD 4 54364863 54364863 + Missense_Mutation SNP C C T TCGA-AG-A002-01A-01W-A00K-09 TCGA-AG-A002-10A-01W-A00K-09 g.chr4:54364863C>T c.923G>A c.(922-924)cGt>cAt p.R308H COADREAD 4 54364913 54364913 + Silent SNP C C T TCGA-CK-5912-01A-11D-1650-10 TCGA-CK-5912-10A-01D-1650-10 g.chr4:54364913C>T c.873G>A c.(871-873)gtG>gtA p.V291V COADREAD 4 54364945 54364945 + Missense_Mutation SNP C C A TCGA-AG-A002-01A-01W-A00K-09 TCGA-AG-A002-10A-01W-A00K-09 g.chr4:54364945C>A c.841G>T c.(841-843)Gat>Tat p.D281Y COADREAD 4 54373570 54373570 + Missense_Mutation SNP A A G TCGA-AA-A010-01A-01W-A00E-09 TCGA-AA-A010-10A-01W-A00E-09 g.chr4:54373570A>G c.689T>C c.(688-690)gTt>gCt p.V230A COADREAD 4 54374161 54374161 + Missense_Mutation SNP C C T TCGA-AG-A002-01A-01W-A00K-09 TCGA-AG-A002-10A-01W-A00K-09 g.chr4:54374161C>T c.614G>A c.(613-615)cGa>cAa p.R205Q COADREAD 4 54374387 54374387 + Missense_Mutation SNP C C T TCGA-AA-A01P-01A-21W-A096-10 TCGA-AA-A01P-11A-11W-A096-10 g.chr4:54374387C>T c.388G>A c.(388-390)Ggt>Agt p.G130S COADREAD 4 54424125 54424125 + Intron SNP G G A TCGA-AA-3994-01A-01W-1073-09 TCGA-AA-3994-10A-01W-1073-09 g.chr4:54424125G>A COADREAD 4 54439821 54439821 + Missense_Mutation SNP G G A TCGA-AA-3492-01A-01D-1408-10 TCGA-AA-3492-11A-01D-1408-10 g.chr4:54439821G>A c.349C>T c.(349-351)Cgc>Tgc p.R117C COADREAD 4 54439945 54439945 + Silent SNP A A G TCGA-AD-5900-01A-11D-1650-10 TCGA-AD-5900-10A-01D-1650-10 g.chr4:54439945A>G c.225T>C c.(223-225)tgT>tgC p.C75C DLBC 4 54362377 54362377 + Missense_Mutation SNP C C A TCGA-VB-A8QN-01A-11D-A382-10 TCGA-VB-A8QN-10A-01D-A385-10 g.chr4:54362377C>A c.1163G>T c.(1162-1164)aGc>aTc p.S388I ESCA 4 54362344 54362344 + Missense_Mutation SNP C C T TCGA-JY-A6FG-01A-11D-A33E-09 TCGA-JY-A6FG-10A-01D-A33H-09 g.chr4:54362344C>T c.1196G>A c.(1195-1197)cGc>cAc p.R399H ESCA 4 54362373 54362373 + Silent SNP G G T TCGA-LN-A49O-01A-11D-A247-09 TCGA-LN-A49O-10A-01D-A247-09 g.chr4:54362373G>T c.1167C>A c.(1165-1167)ccC>ccA p.P389P ESCA 4 54373487 54373487 + Missense_Mutation SNP C C T TCGA-Z6-AAPN-01A-11D-A403-09 TCGA-Z6-AAPN-10A-01D-A403-09 g.chr4:54373487C>T c.772G>A c.(772-774)Gaa>Aaa p.E258K ESCA 4 54373551 54373551 + Silent SNP G G A TCGA-JY-A6F8-01A-11D-A33E-09 TCGA-JY-A6F8-10A-01D-A33H-09 g.chr4:54373551G>A c.708C>T c.(706-708)agC>agT p.S236S GBMLGG 4 54327127 54327127 + Missense_Mutation SNP G G A TCGA-HT-8104-01A-11D-2395-08 TCGA-HT-8104-10A-01D-2396-08 g.chr4:54327127G>A c.2134C>T c.(2134-2136)Ctt>Ttt p.L712F GBMLGG 4 54362284 54362284 + Missense_Mutation SNP C C T TCGA-DU-6392-01A-11D-1705-08 TCGA-DU-6392-10A-01D-1705-08 g.chr4:54362284C>T c.1256G>A c.(1255-1257)cGa>cAa p.R419Q GBMLGG 4 54364953 54364953 + Missense_Mutation SNP T T C TCGA-P5-A72X-01A-11D-A32B-08 TCGA-P5-A72X-10A-01D-A329-08 g.chr4:54364953T>C c.833A>G c.(832-834)aAt>aGt p.N278S GBMLGG 4 54374161 54374161 + Missense_Mutation SNP C C T TCGA-DU-6392-01A-11D-1705-08 TCGA-DU-6392-10A-01D-1705-08 g.chr4:54374161C>T c.614G>A c.(613-615)cGa>cAa p.R205Q HNSC 4 54362403 54362403 + Silent SNP G G A TCGA-D6-6825-01A-21D-1912-08 TCGA-D6-6825-10A-01D-1912-08 g.chr4:54362403G>A c.1137C>T c.(1135-1137)agC>agT p.S379S HNSC 4 54364928 54364928 + Silent SNP G G C TCGA-BA-5152-01A-02D-1870-08 TCGA-BA-5152-10A-01D-1870-08 g.chr4:54364928G>C c.858C>G c.(856-858)ctC>ctG p.L286L HNSC 4 54424120 54424120 + Intron SNP G G A TCGA-BA-4075-01A-01D-1434-08 TCGA-BA-4075-10A-01D-1434-08 g.chr4:54424120G>A KIPAN 4 54343069 54343069 + Silent SNP T T C TCGA-IZ-A6M9-01A-11D-A31X-10 TCGA-IZ-A6M9-10A-01D-A31X-10 g.chr4:54343069T>C c.1743A>G c.(1741-1743)acA>acG p.T581T KIPAN 4 54343092 54343092 + Missense_Mutation SNP C C T TCGA-B9-4114-01A-01D-1252-08 TCGA-B9-4114-10A-01D-1252-08 g.chr4:54343092C>T c.1720G>A c.(1720-1722)Gca>Aca p.A574T KIPAN 4 54362470 54362470 + Missense_Mutation SNP C C A TCGA-F9-A97G-01A-11D-A382-10 TCGA-F9-A97G-10A-01D-A385-10 g.chr4:54362470C>A c.1070G>T c.(1069-1071)cGt>cTt p.R357L KIRP 4 54343069 54343069 + Silent SNP T T C TCGA-IZ-A6M9-01A-11D-A31X-10 TCGA-IZ-A6M9-10A-01D-A31X-10 g.chr4:54343069T>C c.1743A>G c.(1741-1743)acA>acG p.T581T KIRP 4 54343092 54343092 + Missense_Mutation SNP C C T TCGA-B9-4114-01A-01D-1252-08 TCGA-B9-4114-10A-01D-1252-08 g.chr4:54343092C>T c.1720G>A c.(1720-1722)Gca>Aca p.A574T KIRP 4 54362470 54362470 + Missense_Mutation SNP C C A TCGA-F9-A97G-01A-11D-A382-10 TCGA-F9-A97G-10A-01D-A385-10 g.chr4:54362470C>A c.1070G>T c.(1069-1071)cGt>cTt p.R357L LAML 4 54364820 54364820 + Silent SNP G G A TCGA-AB-2939-03A-01W-0745-08 TCGA-AB-2939-11A-01W-0745-08 g.chr4:54364820G>A c.966C>T c.(964-966)gaC>gaT p.D322D LAML 4 54374249 54374249 + Missense_Mutation SNP C C T TCGA-AB-2803-03B-01W-0728-08 TCGA-AB-2803-11B-01W-0728-08 g.chr4:54374249C>T c.526G>A c.(526-528)Gag>Aag p.E176K LGG 4 54327127 54327127 + Missense_Mutation SNP G G A TCGA-HT-8104-01A-11D-2395-08 TCGA-HT-8104-10A-01D-2396-08 g.chr4:54327127G>A c.2134C>T c.(2134-2136)Ctt>Ttt p.L712F LGG 4 54362284 54362284 + Missense_Mutation SNP C C T TCGA-DU-6392-01A-11D-1705-08 TCGA-DU-6392-10A-01D-1705-08 g.chr4:54362284C>T c.1256G>A c.(1255-1257)cGa>cAa p.R419Q LGG 4 54364953 54364953 + Missense_Mutation SNP T T C TCGA-P5-A72X-01A-11D-A32B-08 TCGA-P5-A72X-10A-01D-A329-08 g.chr4:54364953T>C c.833A>G c.(832-834)aAt>aGt p.N278S LGG 4 54374161 54374161 + Missense_Mutation SNP C C T TCGA-DU-6392-01A-11D-1705-08 TCGA-DU-6392-10A-01D-1705-08 g.chr4:54374161C>T c.614G>A c.(613-615)cGa>cAa p.R205Q LIHC 4 54373548 54373548 + Silent SNP C C G TCGA-FV-A3R2-01A-11D-A22F-10 TCGA-FV-A3R2-11A-11D-A22F-10 g.chr4:54373548C>G c.711G>C c.(709-711)ggG>ggC p.G237G LUAD 4 54327087 54327087 + Missense_Mutation SNP C C T TCGA-55-1592-01A-01D-0969-08 TCGA-55-1592-11A-01D-0969-08 g.chr4:54327087C>T c.2174G>A c.(2173-2175)gGc>gAc p.G725D LUAD 4 54327665 54327665 + Missense_Mutation SNP T T C TCGA-91-6831-01A-11D-1855-08 TCGA-91-6831-11A-02D-1855-08 g.chr4:54327665T>C c.1988A>G c.(1987-1989)aAc>aGc p.N663S LUAD 4 54347885 54347885 + Splice_Site SNP A A G TCGA-05-4398-01A-01D-1265-08 TCGA-05-4398-10A-01D-1265-08 g.chr4:54347885A>G c.e7+1 LUAD 4 54347888 54347888 + Splice_Site SNP T T A TCGA-55-8616-01A-11D-2393-08 TCGA-55-8616-10A-01D-2393-08 g.chr4:54347888T>A c.1484A>T c.(1483-1485)aAg>aTg p.K495M LUAD 4 54347901 54347901 + Missense_Mutation SNP T T G TCGA-55-7570-01A-11D-2036-08 TCGA-55-7570-10A-01D-2036-08 g.chr4:54347901T>G c.1471A>C c.(1471-1473)Agc>Cgc p.S491R LUAD 4 54347964 54347964 + Missense_Mutation SNP C C A TCGA-69-A59K-01A-11D-A25L-08 TCGA-69-A59K-10A-01D-A25L-08 g.chr4:54347964C>A c.1408G>T c.(1408-1410)Gac>Tac p.D470Y LUAD 4 54347997 54347997 + Missense_Mutation SNP C C A TCGA-55-8302-01A-11D-2323-08 TCGA-55-8302-10A-01D-2323-08 g.chr4:54347997C>A c.1375G>T c.(1375-1377)Gtc>Ttc p.V459F LUAD 4 54362196 54362196 + Silent SNP C C G TCGA-44-8120-01A-11D-2238-08 TCGA-44-8120-10A-01D-2238-08 g.chr4:54362196C>G c.1344G>C c.(1342-1344)ctG>ctC p.L448L LUAD 4 54362242 54362242 + Missense_Mutation SNP T T C TCGA-17-Z031-01A-01W-0746-08 TCGA-17-Z031-11A-01W-0746-08 g.chr4:54362242T>C c.1298A>G c.(1297-1299)aAt>aGt p.N433S LUAD 4 54364994 54364994 + Silent SNP G G A TCGA-55-8616-01A-11D-2393-08 TCGA-55-8616-10A-01D-2393-08 g.chr4:54364994G>A c.792C>T c.(790-792)taC>taT p.Y264Y LUAD 4 54439849 54439849 + Missense_Mutation SNP G G C TCGA-38-4631-01A-01D-1753-08 TCGA-38-4631-11A-01D-1753-08 g.chr4:54439849G>C c.321C>G c.(319-321)ttC>ttG p.F107L LUSC 4 54327114 54327114 + Missense_Mutation SNP A A G TCGA-43-3920-01A-01D-0983-08 TCGA-43-3920-10A-01D-0983-08 g.chr4:54327114A>G c.2147T>C c.(2146-2148)aTt>aCt p.I716T LUSC 4 54343060 54343060 + Silent SNP C C G TCGA-43-5668-01A-01D-1632-08 TCGA-43-5668-11A-01D-1632-08 g.chr4:54343060C>G c.1752G>C c.(1750-1752)tcG>tcC p.S584S LUSC 4 54440061 54440061 + Missense_Mutation SNP C C T TCGA-18-3409-01A-01D-0983-08 TCGA-18-3409-11A-01D-0983-08 g.chr4:54440061C>T c.109G>A c.(109-111)Gat>Aat p.D37N OV 4 54344851 54344851 + Missense_Mutation SNP C C G TCGA-61-1740-01A-01W-0639-09 TCGA-61-1740-11A-01W-0639-09 g.chr4:54344851C>G c.1544G>C c.(1543-1545)gGt>gCt p.G515A OV 4 54347947 54347947 + Silent SNP G G A TCGA-10-0931-01A-01W-0420-08 TCGA-10-0931-11A-01W-0420-08 g.chr4:54347947G>A c.1425C>T c.(1423-1425)gcC>gcT p.A475A OV 4 54424124 54424124 + Intron SNP C C T TCGA-24-2260-01A-01W-0722-08 TCGA-24-2260-11A-01W-0722-08 g.chr4:54424124C>T PAAD 4 54343147 54343147 + Splice_Site SNP A A G TCGA-IB-7651-01A-11D-2154-08 TCGA-IB-7651-10A-01D-2154-08 g.chr4:54343147A>G c.1665T>C c.(1663-1665)ggT>ggC p.G555G PRAD 4 54440053 54440053 + Silent SNP G G A TCGA-HC-7738-01A-11D-2114-08 TCGA-HC-7738-10A-01D-2115-08 g.chr4:54440053G>A c.117C>T c.(115-117)ctC>ctT p.L39L READ 4 54344807 54344807 + Nonsense_Mutation SNP C C A TCGA-AG-A002-01A-01W-A00K-09 TCGA-AG-A002-10A-01W-A00K-09 g.chr4:54344807C>A c.1588G>T c.(1588-1590)Gaa>Taa p.E530* READ 4 54344828 54344828 + Missense_Mutation SNP C C T TCGA-EI-6506-01A-11D-1733-10 TCGA-EI-6506-10A-01D-1733-10 g.chr4:54344828C>T c.1567G>A c.(1567-1569)Gca>Aca p.A523T READ 4 54364863 54364863 + Missense_Mutation SNP C C T TCGA-AG-A002-01A-01W-A00K-09 TCGA-AG-A002-10A-01W-A00K-09 g.chr4:54364863C>T c.923G>A c.(922-924)cGt>cAt p.R308H READ 4 54364945 54364945 + Missense_Mutation SNP C C A TCGA-AG-A002-01A-01W-A00K-09 TCGA-AG-A002-10A-01W-A00K-09 g.chr4:54364945C>A c.841G>T c.(841-843)Gat>Tat p.D281Y READ 4 54374161 54374161 + Missense_Mutation SNP C C T TCGA-AG-A002-01A-01W-A00K-09 TCGA-AG-A002-10A-01W-A00K-09 g.chr4:54374161C>T c.614G>A c.(613-615)cGa>cAa p.R205Q SKCM 4 54327130 54327130 + Missense_Mutation SNP C C T TCGA-DA-A1HV-06A-21D-A196-08 TCGA-DA-A1HV-10A-01D-A198-08 g.chr4:54327130C>T c.2131G>A c.(2131-2133)Gaa>Aaa p.E711K SKCM 4 54342990 54342990 + Missense_Mutation SNP C C T TCGA-EE-A2MJ-06A-11D-A197-08 TCGA-EE-A2MJ-10A-01D-A199-08 g.chr4:54342990C>T c.1822G>A c.(1822-1824)Gac>Aac p.D608N SKCM 4 54343015 54343015 + Silent SNP T T C TCGA-FW-A3R5-06A-11D-A23B-08 TCGA-FW-A3R5-10A-01D-A23B-08 g.chr4:54343015T>C c.1797A>G c.(1795-1797)gaA>gaG p.E599E SKCM 4 54343060 54343060 + Silent SNP C C G TCGA-FS-A4F0-06A-11D-A24R-08 TCGA-FS-A4F0-10A-01D-A24R-08 g.chr4:54343060C>G c.1752G>C c.(1750-1752)tcG>tcC p.S584S SKCM 4 54343061 54343061 + Missense_Mutation SNP G G A TCGA-EE-A29D-06A-11D-A197-08 TCGA-EE-A29D-10A-01D-A199-08 g.chr4:54343061G>A c.1751C>T c.(1750-1752)tCg>tTg p.S584L SKCM 4 54344769 54344769 + Frame_Shift_Del DEL G G - TCGA-ER-A19P-06A-11D-A196-08 TCGA-ER-A19P-10A-01D-A198-08 g.chr4:54344769delG c.1626delC c.(1624-1626)cccfs p.P542fs SKCM 4 54344801 54344801 + Missense_Mutation SNP C C T TCGA-EE-A2MI-06A-11D-A197-08 TCGA-EE-A2MI-10A-01D-A199-08 g.chr4:54344801C>T c.1594G>A c.(1594-1596)Gat>Aat p.D532N SKCM 4 54347931 54347931 + Missense_Mutation SNP C C G TCGA-EE-A3AF-06A-11D-A196-08 TCGA-EE-A3AF-10A-01D-A198-08 g.chr4:54347931C>G c.1441G>C c.(1441-1443)Ggc>Cgc p.G481R SKCM 4 54347998 54347998 + Silent SNP G G A TCGA-EE-A2GO-06A-11D-A196-08 TCGA-EE-A2GO-10A-01D-A198-08 g.chr4:54347998G>A c.1374C>T c.(1372-1374)ctC>ctT p.L458L SKCM 4 54362234 54362234 + Missense_Mutation SNP C C T TCGA-EE-A2GR-06A-11D-A197-08 TCGA-EE-A2GR-10A-01D-A199-08 g.chr4:54362234C>T c.1306G>A c.(1306-1308)Gat>Aat p.D436N SKCM 4 54362297 54362297 + Missense_Mutation SNP C C T TCGA-EB-A5VV-06A-11D-A32N-08 TCGA-EB-A5VV-10A-01D-A32N-08 g.chr4:54362297C>T c.1243G>A c.(1243-1245)Ggt>Agt p.G415S SKCM 4 54362336 54362336 + Missense_Mutation SNP C C T TCGA-FW-A3R5-06A-11D-A23B-08 TCGA-FW-A3R5-10A-01D-A23B-08 g.chr4:54362336C>T c.1204G>A c.(1204-1206)Gat>Aat p.D402N SKCM 4 54362369 54362369 + Missense_Mutation SNP C C T TCGA-EE-A3J5-06A-11D-A20D-08 TCGA-EE-A3J5-10A-01D-A20D-08 g.chr4:54362369C>T c.1171G>A c.(1171-1173)Gag>Aag p.E391K SKCM 4 54364824 54364824 + Missense_Mutation SNP C C T TCGA-FW-A3R5-06A-11D-A23B-08 TCGA-FW-A3R5-10A-01D-A23B-08 g.chr4:54364824C>T c.962G>A c.(961-963)gGa>gAa p.G321E SKCM 4 54364864 54364864 + Missense_Mutation SNP G G A TCGA-EE-A2GC-06A-11D-A197-08 TCGA-EE-A2GC-10A-01D-A199-08 g.chr4:54364864G>A c.922C>T c.(922-924)Cgt>Tgt p.R308C SKCM 4 54364889 54364889 + Silent SNP G G A TCGA-D9-A3Z1-06A-11D-A23B-08 TCGA-D9-A3Z1-10A-01D-A23B-08 g.chr4:54364889G>A c.897C>T c.(895-897)gtC>gtT p.V299V SKCM 4 54364942 54364942 + Missense_Mutation SNP G G A TCGA-FW-A3R5-06A-11D-A23B-08 TCGA-FW-A3R5-10A-01D-A23B-08 g.chr4:54364942G>A c.844C>T c.(844-846)Ccc>Tcc p.P282S SKCM 4 54373514 54373514 + Missense_Mutation SNP C C T TCGA-FW-A3R5-06A-11D-A23B-08 TCGA-FW-A3R5-10A-01D-A23B-08 g.chr4:54373514C>T c.745G>A c.(745-747)Gaa>Aaa p.E249K SKCM 4 54373514 54373514 + Missense_Mutation SNP C C T TCGA-OD-A75X-06A-12D-A32N-08 TCGA-OD-A75X-10A-01D-A32N-08 g.chr4:54373514C>T c.745G>A c.(745-747)Gaa>Aaa p.E249K SKCM 4 54373525 54373525 + Missense_Mutation SNP T T C TCGA-GF-A6C9-06A-11D-A30X-08 TCGA-GF-A6C9-10A-01D-A30X-08 g.chr4:54373525T>C c.734A>G c.(733-735)gAc>gGc p.D245G SKCM 4 54374236 54374236 + Missense_Mutation SNP T T G TCGA-D3-A2J8-06A-11D-A196-08 TCGA-D3-A2J8-10A-01D-A198-08 g.chr4:54374236T>G c.539A>C c.(538-540)gAc>gCc p.D180A SKCM 4 54424116 54424116 + Intron SNP A A C TCGA-D9-A6EC-06A-11D-A30X-08 TCGA-D9-A6EC-10A-01D-A30X-08 g.chr4:54424116A>C SKCM 4 54439916 54439916 + Missense_Mutation SNP T T G TCGA-D3-A3MU-06A-11D-A21A-08 TCGA-D3-A3MU-10A-01D-A21A-08 g.chr4:54439916T>G c.254A>C c.(253-255)cAg>cCg p.Q85P SKCM 4 54439943 54439943 + Missense_Mutation SNP G G A TCGA-EE-A3JI-06A-11D-A21A-08 TCGA-EE-A3JI-10A-01D-A21A-08 g.chr4:54439943G>A c.227C>T c.(226-228)cCc>cTc p.P76L

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 54343079 54343079 single base substitution A G missense_variant L482S 1445T>C BLCA-CN 4 54343079 54343079 single base substitution A G missense_variant L578S 1733T>C BLCA-CN 4 54344831 54344831 single base substitution C T missense_variant V426I 1276G>A BLCA-CN 4 54344831 54344831 single base substitution C T missense_variant V522I 1564G>A BLCA-CN 4 54362455 54362455 single base substitution C T downstream_gene_variant BLCA-CN 4 54362455 54362455 single base substitution C T missense_variant R266H 797G>A BLCA-CN 4 54362455 54362455 single base substitution C T missense_variant R362H 1085G>A BLCA-CN 4 54362544 54362544 single base substitution G C downstream_gene_variant BLCA-CN 4 54362544 54362544 single base substitution G C missense_variant I236M 708C>G BLCA-CN 4 54362544 54362544 single base substitution G C missense_variant I332M 996C>G BLCA-CN 4 54364883 54364883 single base substitution G A downstream_gene_variant BLCA-CN 4 54364883 54364883 single base substitution G A synonymous_variant I205I 615C>T BLCA-CN 4 54364883 54364883 single base substitution G A synonymous_variant I301I 903C>T BLCA-US 4 54342918 54342918 deletion of <=200bp A - splice_donor_variant BLCA-US 4 54374161 54374161 single base substitution C T exon_variant BLCA-US 4 54374161 54374161 single base substitution C T missense_variant R109Q 326G>A BLCA-US 4 54374161 54374161 single base substitution C T missense_variant R205Q 614G>A BOCA-FR 4 54373417 54373417 single base substitution C T intron_variant BOCA-FR 4 54442659 54442659 single base substitution G A intron_variant BOCA-FR 4 54471168 54471168 single base substitution C A intron_variant BOCA-FR 4 54529196 54529196 single base substitution C T intron_variant BOCA-FR 4 54542809 54542809 single base substitution C T intron_variant BRCA-EU 4 54321468 54321468 insertion of <=200bp - GAGAC downstream_gene_variant BRCA-EU 4 54321645 54321645 single base substitution C G downstream_gene_variant BRCA-EU 4 54324748 54324748 single base substitution C G downstream_gene_variant BRCA-EU 4 54324857 54324858 deletion of <=200bp AG - downstream_gene_variant BRCA-EU 4 54324893 54324893 single base substitution G C downstream_gene_variant BRCA-EU 4 54325505 54325505 single base substitution T C 3_prime_UTR_variant BRCA-EU 4 54325505 54325505 single base substitution T C downstream_gene_variant BRCA-EU 4 54326319 54326319 single base substitution G C 3_prime_UTR_variant BRCA-EU 4 54326319 54326319 single base substitution G C downstream_gene_variant BRCA-EU 4 54326670 54326670 single base substitution C T 3_prime_UTR_variant BRCA-EU 4 54327263 54327263 single base substitution T A intron_variant BRCA-EU 4 54328647 54328647 single base substitution C T intron_variant BRCA-EU 4 54328732 54328732 single base substitution C T intron_variant BRCA-EU 4 54328925 54328925 single base substitution C T intron_variant BRCA-EU 4 54328938 54328938 single base substitution T A intron_variant BRCA-EU 4 54328985 54328985 single base substitution C T intron_variant BRCA-EU 4 54330441 54330441 single base substitution C T intron_variant BRCA-EU 4 54330646 54330646 single base substitution C T intron_variant BRCA-EU 4 54332958 54332958 single base substitution C A intron_variant BRCA-EU 4 54333382 54333382 single base substitution G A intron_variant BRCA-EU 4 54336657 54336657 single base substitution G T intron_variant BRCA-EU 4 54336878 54336878 single base substitution C A intron_variant BRCA-EU 4 54338179 54338179 single base substitution A G intron_variant BRCA-EU 4 54338290 54338290 single base substitution G A intron_variant BRCA-EU 4 54338703 54338703 single base substitution C G intron_variant BRCA-EU 4 54338757 54338757 single base substitution A G intron_variant BRCA-EU 4 54343774 54343774 single base substitution A T intron_variant BRCA-EU 4 54345231 54345231 single base substitution A G intron_variant BRCA-EU 4 54347897 54347897 single base substitution T C missense_variant N396S 1187A>G BRCA-EU 4 54347897 54347897 single base substitution T C missense_variant N492S 1475A>G BRCA-EU 4 54348066 54348066 single base substitution A G intron_variant BRCA-EU 4 54348116 54348116 single base substitution T A intron_variant BRCA-EU 4 54349273 54349273 single base substitution G T intron_variant BRCA-EU 4 54349700 54349700 single base substitution G C intron_variant BRCA-EU 4 54349772 54349772 single base substitution A T intron_variant BRCA-EU 4 54350291 54350291 single base substitution G C intron_variant BRCA-EU 4 54351230 54351230 single base substitution G A intron_variant BRCA-EU 4 54352394 54352394 single base substitution G T intron_variant BRCA-EU 4 54354119 54354119 single base substitution G A intron_variant BRCA-EU 4 54355572 54355572 single base substitution G T intron_variant BRCA-EU 4 54356542 54356542 single base substitution G C intron_variant BRCA-EU 4 54356589 54356589 single base substitution G T intron_variant BRCA-EU 4 54356825 54356825 deletion of <=200bp A - intron_variant BRCA-EU 4 54357357 54357357 insertion of <=200bp - C intron_variant BRCA-EU 4 54357552 54357552 single base substitution A G intron_variant BRCA-EU 4 54357808 54357808 single base substitution G C intron_variant BRCA-EU 4 54358726 54358726 single base substitution A T intron_variant BRCA-EU 4 54359010 54359010 single base substitution G C intron_variant BRCA-EU 4 54359588 54359589 deletion of <=200bp GT - intron_variant BRCA-EU 4 54359880 54359880 deletion of <=200bp C - intron_variant BRCA-EU 4 54360232 54360232 single base substitution T C downstream_gene_variant BRCA-EU 4 54360232 54360232 single base substitution T C intron_variant BRCA-EU 4 54360761 54360761 single base substitution A G downstream_gene_variant BRCA-EU 4 54360761 54360761 single base substitution A G intron_variant BRCA-EU 4 54361447 54361447 deletion of <=200bp A - downstream_gene_variant BRCA-EU 4 54361447 54361447 deletion of <=200bp A - intron_variant BRCA-EU 4 54362968 54362968 single base substitution G A downstream_gene_variant BRCA-EU 4 54362968 54362968 single base substitution G A intron_variant BRCA-EU 4 54363174 54363174 single base substitution C A downstream_gene_variant BRCA-EU 4 54363174 54363174 single base substitution C A intron_variant BRCA-EU 4 54364573 54364573 single base substitution C A downstream_gene_variant BRCA-EU 4 54364573 54364573 single base substitution C A intron_variant BRCA-EU 4 54365135 54365135 single base substitution T G intron_variant BRCA-EU 4 54365577 54365577 single base substitution C G intron_variant BRCA-EU 4 54367473 54367473 insertion of <=200bp - CG intron_variant BRCA-EU 4 54367671 54367671 single base substitution C T intron_variant BRCA-EU 4 54368061 54368061 single base substitution C T intron_variant BRCA-EU 4 54368214 54368214 single base substitution C T intron_variant BRCA-EU 4 54368253 54368253 single base substitution G T intron_variant BRCA-EU 4 54368369 54368369 single base substitution C T intron_variant BRCA-EU 4 54368582 54368582 single base substitution G C intron_variant BRCA-EU 4 54368863 54368863 single base substitution G C intron_variant BRCA-EU 4 54368983 54368983 single base substitution A G intron_variant BRCA-EU 4 54370564 54370564 single base substitution A G intron_variant BRCA-EU 4 54375513 54375513 single base substitution G C intron_variant BRCA-EU 4 54375513 54375513 single base substitution G C upstream_gene_variant BRCA-EU 4 54376573 54376573 single base substitution G C intron_variant BRCA-EU 4 54376573 54376573 single base substitution G C upstream_gene_variant BRCA-EU 4 54376790 54376790 single base substitution G A intron_variant BRCA-EU 4 54376790 54376790 single base substitution G A upstream_gene_variant BRCA-EU 4 54377544 54377544 single base substitution A C intron_variant BRCA-EU 4 54377544 54377544 single base substitution A C upstream_gene_variant BRCA-EU 4 54377689 54377689 single base substitution C T intron_variant BRCA-EU 4 54377689 54377689 single base substitution C T upstream_gene_variant BRCA-EU 4 54378985 54378985 single base substitution T C intron_variant BRCA-EU 4 54378985 54378985 single base substitution T C upstream_gene_variant BRCA-EU 4 54381438 54381438 single base substitution C T intron_variant BRCA-EU 4 54382243 54382243 single base substitution C T intron_variant BRCA-EU 4 54382607 54382607 single base substitution G A intron_variant BRCA-EU 4 54382668 54382668 single base substitution G T intron_variant BRCA-EU 4 54383312 54383312 single base substitution G T intron_variant BRCA-EU 4 54383429 54383429 deletion of <=200bp T - intron_variant BRCA-EU 4 54383719 54383719 single base substitution G T intron_variant BRCA-EU 4 54383888 54383888 single base substitution C A intron_variant BRCA-EU 4 54384767 54384767 single base substitution C T intron_variant BRCA-EU 4 54384890 54384890 single base substitution G C intron_variant BRCA-EU 4 54386292 54386292 single base substitution C T intron_variant BRCA-EU 4 54386674 54386674 single base substitution C G intron_variant BRCA-EU 4 54389786 54389786 single base substitution C G intron_variant BRCA-EU 4 54392304 54392304 single base substitution G A intron_variant BRCA-EU 4 54395114 54395114 deletion of <=200bp A - intron_variant BRCA-EU 4 54396814 54396814 insertion of <=200bp - A intron_variant BRCA-EU 4 54397343 54397343 single base substitution C T intron_variant BRCA-EU 4 54397765 54397765 single base substitution G C intron_variant BRCA-EU 4 54398665 54398665 single base substitution T C intron_variant BRCA-EU 4 54399494 54399494 single base substitution A T intron_variant BRCA-EU 4 54399923 54399923 single base substitution G A intron_variant BRCA-EU 4 54401191 54401191 single base substitution A G intron_variant BRCA-EU 4 54402198 54402198 single base substitution C A intron_variant BRCA-EU 4 54403111 54403111 single base substitution T C intron_variant BRCA-EU 4 54404122 54404122 single base substitution T A intron_variant BRCA-EU 4 54404678 54404678 single base substitution A G intron_variant BRCA-EU 4 54404917 54404917 single base substitution C T intron_variant BRCA-EU 4 54405298 54405298 single base substitution C G intron_variant BRCA-EU 4 54406325 54406325 single base substitution G A intron_variant BRCA-EU 4 54407618 54407618 single base substitution C A intron_variant BRCA-EU 4 54408840 54408840 single base substitution G T intron_variant BRCA-EU 4 54410342 54410342 single base substitution G A intron_variant BRCA-EU 4 54414378 54414378 single base substitution G C intron_variant BRCA-EU 4 54415318 54415318 insertion of <=200bp - C intron_variant BRCA-EU 4 54418648 54418648 single base substitution A T intron_variant BRCA-EU 4 54421031 54421031 single base substitution A T intron_variant BRCA-EU 4 54421095 54421095 single base substitution A T intron_variant BRCA-EU 4 54421151 54421151 single base substitution G C intron_variant BRCA-EU 4 54421169 54421169 single base substitution G C intron_variant BRCA-EU 4 54421583 54421583 single base substitution G C intron_variant BRCA-EU 4 54421752 54421752 single base substitution A G intron_variant BRCA-EU 4 54422541 54422541 single base substitution C T intron_variant BRCA-EU 4 54425863 54425863 single base substitution G A intron_variant BRCA-EU 4 54425863 54425863 single base substitution G A upstream_gene_variant BRCA-EU 4 54428437 54428437 single base substitution C A intron_variant BRCA-EU 4 54428437 54428437 single base substitution C A upstream_gene_variant BRCA-EU 4 54429164 54429164 single base substitution G A intron_variant BRCA-EU 4 54429164 54429164 single base substitution G A upstream_gene_variant BRCA-EU 4 54430870 54430870 single base substitution G A intron_variant BRCA-EU 4 54431003 54431003 single base substitution C G intron_variant BRCA-EU 4 54431360 54431360 single base substitution C T intron_variant BRCA-EU 4 54431827 54431827 single base substitution C A intron_variant BRCA-EU 4 54433883 54433883 single base substitution T C intron_variant BRCA-EU 4 54434249 54434249 single base substitution T C intron_variant BRCA-EU 4 54434782 54434782 single base substitution C A intron_variant BRCA-EU 4 54436210 54436210 single base substitution C T downstream_gene_variant BRCA-EU 4 54436210 54436210 single base substitution C T intron_variant BRCA-EU 4 54437092 54437092 single base substitution G C downstream_gene_variant BRCA-EU 4 54437092 54437092 single base substitution G C intron_variant BRCA-EU 4 54437953 54437953 single base substitution G T downstream_gene_variant BRCA-EU 4 54437953 54437953 single base substitution G T intron_variant BRCA-EU 4 54438805 54438805 single base substitution G A downstream_gene_variant BRCA-EU 4 54438805 54438805 single base substitution G A intron_variant BRCA-EU 4 54439404 54439404 single base substitution G A downstream_gene_variant BRCA-EU 4 54439404 54439404 single base substitution G A intron_variant BRCA-EU 4 54440667 54440667 single base substitution C T intron_variant BRCA-EU 4 54441596 54441596 single base substitution C T intron_variant BRCA-EU 4 54442230 54442230 single base substitution C T intron_variant BRCA-EU 4 54444202 54444202 single base substitution G C intron_variant BRCA-EU 4 54444626 54444626 single base substitution G T intron_variant BRCA-EU 4 54445277 54445277 single base substitution T A intron_variant BRCA-EU 4 54445659 54445659 single base substitution A G intron_variant BRCA-EU 4 54447573 54447591 deletion of <=200bp CATCATTTTTTCCAAAAAC - intron_variant BRCA-EU 4 54449737 54449737 single base substitution A T intron_variant BRCA-EU 4 54449975 54449975 single base substitution C T intron_variant BRCA-EU 4 54450331 54450331 deletion of <=200bp T - intron_variant BRCA-EU 4 54450815 54450815 single base substitution G A intron_variant BRCA-EU 4 54451026 54451026 single base substitution T A intron_variant BRCA-EU 4 54451391 54451391 single base substitution G A intron_variant BRCA-EU 4 54453216 54453216 insertion of <=200bp - A intron_variant BRCA-EU 4 54454063 54454063 single base substitution C T intron_variant BRCA-EU 4 54454293 54454293 single base substitution C T intron_variant BRCA-EU 4 54455572 54455572 insertion of <=200bp - A intron_variant BRCA-EU 4 54455575 54455575 single base substitution T G intron_variant BRCA-EU 4 54456243 54456243 insertion of <=200bp - C intron_variant BRCA-EU 4 54457659 54457659 single base substitution G C 5_prime_UTR_variant BRCA-EU 4 54457659 54457659 single base substitution G C exon_variant BRCA-EU 4 54457659 54457659 single base substitution G C intron_variant BRCA-EU 4 54457900 54457900 single base substitution T G 5_prime_UTR_variant BRCA-EU 4 54457900 54457900 single base substitution T G intron_variant BRCA-EU 4 54457900 54457900 single base substitution T G upstream_gene_variant BRCA-EU 4 54459715 54459715 single base substitution T C intron_variant BRCA-EU 4 54459715 54459715 single base substitution T C upstream_gene_variant BRCA-EU 4 54462230 54462230 single base substitution T A intron_variant BRCA-EU 4 54462230 54462230 single base substitution T A upstream_gene_variant BRCA-EU 4 54462234 54462234 single base substitution T A intron_variant BRCA-EU 4 54462234 54462234 single base substitution T A upstream_gene_variant BRCA-EU 4 54462840 54462840 single base substitution G A intron_variant BRCA-EU 4 54462840 54462840 single base substitution G A upstream_gene_variant BRCA-EU 4 54463291 54463291 single base substitution C A intron_variant BRCA-EU 4 54464382 54464382 single base substitution C G intron_variant BRCA-EU 4 54464868 54464868 single base substitution G A intron_variant BRCA-EU 4 54467685 54467685 single base substitution T C intron_variant BRCA-EU 4 54468271 54468271 single base substitution G C intron_variant BRCA-EU 4 54468776 54468776 single base substitution A G intron_variant BRCA-EU 4 54472857 54472857 single base substitution C T intron_variant BRCA-EU 4 54473348 54473348 single base substitution T G intron_variant BRCA-EU 4 54475182 54475182 single base substitution C T intron_variant BRCA-EU 4 54476304 54476304 single base substitution C T intron_variant BRCA-EU 4 54480032 54480032 single base substitution G C intron_variant BRCA-EU 4 54480197 54480197 single base substitution C A intron_variant BRCA-EU 4 54482976 54482976 single base substitution C T intron_variant BRCA-EU 4 54483402 54483402 single base substitution T G intron_variant BRCA-EU 4 54483654 54483654 single base substitution A G 5_prime_UTR_variant BRCA-EU 4 54483654 54483654 single base substitution A G intron_variant BRCA-EU 4 54484803 54484803 single base substitution T C intron_variant BRCA-EU 4 54484803 54484803 single base substitution T C upstream_gene_variant BRCA-EU 4 54485336 54485336 deletion of <=200bp T - intron_variant BRCA-EU 4 54485336 54485336 deletion of <=200bp T - upstream_gene_variant BRCA-EU 4 54486207 54486207 single base substitution T C intron_variant BRCA-EU 4 54486207 54486207 single base substitution T C upstream_gene_variant BRCA-EU 4 54486432 54486432 single base substitution T C intron_variant BRCA-EU 4 54486432 54486432 single base substitution T C upstream_gene_variant BRCA-EU 4 54489166 54489166 single base substitution G C intron_variant BRCA-EU 4 54489566 54489566 deletion of <=200bp T - intron_variant BRCA-EU 4 54489868 54489868 single base substitution G C intron_variant BRCA-EU 4 54489908 54489908 single base substitution T C intron_variant BRCA-EU 4 54491433 54491433 single base substitution C T intron_variant BRCA-EU 4 54491893 54491893 single base substitution G C intron_variant BRCA-EU 4 54493715 54493715 single base substitution T C intron_variant BRCA-EU 4 54493986 54493986 single base substitution G C intron_variant BRCA-EU 4 54494794 54494794 single base substitution A G intron_variant BRCA-EU 4 54495155 54495155 single base substitution G C intron_variant BRCA-EU 4 54495500 54495500 single base substitution C A intron_variant BRCA-EU 4 54496192 54496192 single base substitution G T intron_variant BRCA-EU 4 54498744 54498744 single base substitution C A intron_variant BRCA-EU 4 54500311 54500311 single base substitution G T intron_variant BRCA-EU 4 54500658 54500658 single base substitution A T intron_variant BRCA-EU 4 54500720 54500720 single base substitution T G intron_variant BRCA-EU 4 54502426 54502426 single base substitution G C intron_variant BRCA-EU 4 54502572 54502572 single base substitution G A intron_variant BRCA-EU 4 54503735 54503735 single base substitution C G intron_variant BRCA-EU 4 54506132 54506132 single base substitution G C intron_variant BRCA-EU 4 54506204 54506204 deletion of <=200bp A - intron_variant BRCA-EU 4 54508374 54508374 single base substitution G C intron_variant BRCA-EU 4 54509498 54509503 multiple base substitution (>=2bp and <=200bp) GTAGAG GTC intron_variant BRCA-EU 4 54509503 54509503 single base substitution G C intron_variant BRCA-EU 4 54509504 54509504 single base substitution A T intron_variant BRCA-EU 4 54509789 54509789 single base substitution C A intron_variant BRCA-EU 4 54510873 54510873 single base substitution C G intron_variant BRCA-EU 4 54511613 54511613 single base substitution A G intron_variant BRCA-EU 4 54511641 54511641 single base substitution T A intron_variant BRCA-EU 4 54513951 54513951 single base substitution C T intron_variant BRCA-EU 4 54514775 54514775 single base substitution G A intron_variant BRCA-EU 4 54515917 54515917 single base substitution C T intron_variant BRCA-EU 4 54516097 54516097 single base substitution G C intron_variant BRCA-EU 4 54516857 54516857 single base substitution G A intron_variant BRCA-EU 4 54518660 54518660 single base substitution G A 5_prime_UTR_variant BRCA-EU 4 54518660 54518660 single base substitution G A intron_variant BRCA-EU 4 54518660 54518660 single base substitution G A upstream_gene_variant BRCA-EU 4 54519529 54519529 single base substitution A C intron_variant BRCA-EU 4 54519529 54519529 single base substitution A C upstream_gene_variant BRCA-EU 4 54520324 54520324 single base substitution C T intron_variant BRCA-EU 4 54520324 54520324 single base substitution C T upstream_gene_variant BRCA-EU 4 54521101 54521101 single base substitution T G intron_variant BRCA-EU 4 54521101 54521101 single base substitution T G upstream_gene_variant BRCA-EU 4 54521398 54521398 single base substitution G A intron_variant BRCA-EU 4 54521398 54521398 single base substitution G A upstream_gene_variant BRCA-EU 4 54523333 54523333 single base substitution G C intron_variant BRCA-EU 4 54523333 54523333 single base substitution G C upstream_gene_variant BRCA-EU 4 54525109 54525109 single base substitution A G intron_variant BRCA-EU 4 54525266 54525266 single base substitution G A intron_variant BRCA-EU 4 54525533 54525533 single base substitution A T intron_variant BRCA-EU 4 54527383 54527383 single base substitution A G intron_variant BRCA-EU 4 54527624 54527624 single base substitution G C intron_variant BRCA-EU 4 54528183 54528183 single base substitution C A intron_variant BRCA-EU 4 54528222 54528222 single base substitution C G intron_variant BRCA-EU 4 54528537 54528537 single base substitution C A intron_variant BRCA-EU 4 54529349 54529349 single base substitution T C intron_variant BRCA-EU 4 54531076 54531076 single base substitution G C intron_variant BRCA-EU 4 54531379 54531379 single base substitution T A intron_variant BRCA-EU 4 54531889 54531889 single base substitution G A intron_variant BRCA-EU 4 54532449 54532449 single base substitution T C intron_variant BRCA-EU 4 54532530 54532530 single base substitution A C intron_variant BRCA-EU 4 54532651 54532651 single base substitution A C intron_variant BRCA-EU 4 54533914 54533914 single base substitution C G intron_variant BRCA-EU 4 54534443 54534443 single base substitution T A intron_variant BRCA-EU 4 54534755 54534755 single base substitution C T intron_variant BRCA-EU 4 54535804 54535804 single base substitution C G intron_variant BRCA-EU 4 54535975 54535975 single base substitution C G intron_variant BRCA-EU 4 54535997 54535997 single base substitution C T intron_variant BRCA-EU 4 54536001 54536001 single base substitution C G intron_variant BRCA-EU 4 54536184 54536184 single base substitution C T intron_variant BRCA-EU 4 54541180 54541180 insertion of <=200bp - T intron_variant BRCA-EU 4 54541597 54541597 single base substitution C T intron_variant BRCA-EU 4 54542492 54542492 single base substitution C T intron_variant BRCA-EU 4 54543076 54543076 single base substitution G A intron_variant BRCA-EU 4 54543151 54543151 single base substitution A C intron_variant BRCA-EU 4 54543764 54543764 single base substitution T G intron_variant BRCA-EU 4 54544614 54544614 single base substitution G A intron_variant BRCA-EU 4 54544662 54544662 single base substitution T G intron_variant BRCA-EU 4 54545033 54545033 single base substitution C T intron_variant BRCA-EU 4 54545736 54545736 single base substitution A G intron_variant BRCA-EU 4 54547601 54547601 single base substitution G C intron_variant BRCA-EU 4 54548182 54548182 single base substitution C T intron_variant BRCA-EU 4 54549631 54549631 single base substitution G A intron_variant BRCA-EU 4 54551181 54551181 single base substitution G T intron_variant BRCA-EU 4 54551520 54551528 deletion of <=200bp GGAGAAGTC - intron_variant BRCA-EU 4 54552718 54552718 single base substitution G A intron_variant BRCA-EU 4 54553128 54553128 single base substitution C A intron_variant BRCA-EU 4 54553883 54553883 single base substitution A C intron_variant BRCA-EU 4 54554904 54554904 deletion of <=200bp T - intron_variant BRCA-EU 4 54556500 54556500 single base substitution C T intron_variant BRCA-EU 4 54557591 54557591 single base substitution T C intron_variant BRCA-EU 4 54559246 54559246 single base substitution C T intron_variant BRCA-EU 4 54559922 54559922 single base substitution C T intron_variant BRCA-EU 4 54562377 54562377 single base substitution G A intron_variant BRCA-EU 4 54564305 54564305 single base substitution C A intron_variant BRCA-EU 4 54569070 54569070 single base substitution G C upstream_gene_variant BRCA-EU 4 54569120 54569120 single base substitution C G upstream_gene_variant BRCA-EU 4 54570982 54570982 single base substitution C G upstream_gene_variant BRCA-FR 4 54321645 54321645 single base substitution C G downstream_gene_variant BRCA-FR 4 54326319 54326319 single base substitution G C 3_prime_UTR_variant BRCA-FR 4 54326319 54326319 single base substitution G C downstream_gene_variant BRCA-FR 4 54327276 54327276 single base substitution A G intron_variant BRCA-FR 4 54336500 54336500 single base substitution C T intron_variant BRCA-FR 4 54336878 54336878 single base substitution C A intron_variant BRCA-FR 4 54350291 54350291 single base substitution G C intron_variant BRCA-FR 4 54356542 54356542 single base substitution G C intron_variant BRCA-FR 4 54357808 54357808 single base substitution G C intron_variant BRCA-FR 4 54382655 54382655 single base substitution T C intron_variant BRCA-FR 4 54383989 54383989 single base substitution A C intron_variant BRCA-FR 4 54387549 54387549 single base substitution G A intron_variant BRCA-FR 4 54398808 54398808 single base substitution A C intron_variant BRCA-FR 4 54404917 54404917 single base substitution C T intron_variant BRCA-FR 4 54408840 54408840 single base substitution G T intron_variant BRCA-FR 4 54424460 54424460 single base substitution G A intron_variant BRCA-FR 4 54424460 54424460 single base substitution G A upstream_gene_variant BRCA-FR 4 54431003 54431003 single base substitution C G intron_variant BRCA-FR 4 54433883 54433883 single base substitution T C intron_variant BRCA-FR 4 54445662 54445662 single base substitution A G intron_variant BRCA-FR 4 54445851 54445851 single base substitution G C intron_variant BRCA-FR 4 54468776 54468776 single base substitution A G intron_variant BRCA-FR 4 54489868 54489868 single base substitution G C intron_variant BRCA-FR 4 54501321 54501321 single base substitution C T intron_variant BRCA-FR 4 54508374 54508374 single base substitution G C intron_variant BRCA-FR 4 54516732 54516732 single base substitution A G intron_variant BRCA-FR 4 54517353 54517353 single base substitution C G intron_variant BRCA-FR 4 54522186 54522186 single base substitution C G intron_variant BRCA-FR 4 54522186 54522186 single base substitution C G upstream_gene_variant BRCA-FR 4 54525533 54525533 single base substitution A T intron_variant BRCA-FR 4 54531076 54531076 single base substitution G C intron_variant BRCA-FR 4 54533303 54533303 single base substitution C G intron_variant BRCA-FR 4 54535825 54535825 single base substitution G A intron_variant BRCA-FR 4 54543238 54543238 single base substitution G C intron_variant BRCA-FR 4 54552718 54552718 single base substitution G A intron_variant BRCA-FR 4 54558134 54558134 single base substitution C G intron_variant BRCA-FR 4 54559246 54559246 single base substitution C T intron_variant BRCA-FR 4 54563595 54563595 single base substitution G C intron_variant BRCA-FR 4 54569070 54569070 single base substitution G C upstream_gene_variant BRCA-FR 4 54570982 54570982 single base substitution C G upstream_gene_variant BRCA-UK 4 54323921 54323921 single base substitution G C downstream_gene_variant BRCA-UK 4 54328647 54328647 single base substitution C T intron_variant BRCA-UK 4 54328732 54328732 single base substitution C T intron_variant BRCA-UK 4 54328925 54328925 single base substitution C T intron_variant BRCA-UK 4 54328985 54328985 single base substitution C T intron_variant BRCA-UK 4 54338290 54338290 single base substitution G A intron_variant BRCA-UK 4 54405298 54405298 single base substitution C G intron_variant BRCA-UK 4 54422403 54422403 single base substitution G C intron_variant BRCA-UK 4 54439404 54439404 single base substitution G A downstream_gene_variant BRCA-UK 4 54439404 54439404 single base substitution G A intron_variant BRCA-UK 4 54441688 54441688 single base substitution G A intron_variant BRCA-UK 4 54467685 54467685 single base substitution T C intron_variant BRCA-UK 4 54473348 54473348 single base substitution T G intron_variant BRCA-UK 4 54492614 54492614 single base substitution C G intron_variant BRCA-UK 4 54531889 54531889 single base substitution G A intron_variant BRCA-UK 4 54567018 54567018 single base substitution C G intron_variant BRCA-UK 4 54569647 54569647 single base substitution G C upstream_gene_variant BRCA-UK 4 54570009 54570009 single base substitution C G upstream_gene_variant BRCA-US 4 54327695 54327695 single base substitution A G missense_variant I557T 1670T>C BRCA-US 4 54327695 54327695 single base substitution A G missense_variant I653T 1958T>C BRCA-US 4 54342967 54342967 single base substitution T G synonymous_variant P519P 1557A>C BRCA-US 4 54342967 54342967 single base substitution T G synonymous_variant P615P 1845A>C BRCA-US 4 54343119 54343119 single base substitution C T missense_variant E469K 1405G>A BRCA-US 4 54343119 54343119 single base substitution C T missense_variant E565K 1693G>A BRCA-US 4 54362417 54362417 single base substitution G A downstream_gene_variant BRCA-US 4 54362417 54362417 single base substitution G A missense_variant P279S 835C>T BRCA-US 4 54362417 54362417 single base substitution G A missense_variant P375S 1123C>T BRCA-US 4 54362419 54362419 single base substitution C G downstream_gene_variant BRCA-US 4 54362419 54362419 single base substitution C G missense_variant R278T 833G>C BRCA-US 4 54362419 54362419 single base substitution C G missense_variant R374T 1121G>C BRCA-US 4 54362438 54362438 single base substitution G T downstream_gene_variant BRCA-US 4 54362438 54362438 single base substitution G T missense_variant Q272K 814C>A BRCA-US 4 54362438 54362438 single base substitution G T missense_variant Q368K 1102C>A BRCA-US 4 54364837 54364837 single base substitution G T downstream_gene_variant BRCA-US 4 54364837 54364837 single base substitution G T synonymous_variant R221R 661C>A BRCA-US 4 54364837 54364837 single base substitution G T synonymous_variant R317R 949C>A BRCA-US 4 54364970 54364970 single base substitution A T exon_variant BRCA-US 4 54364970 54364970 single base substitution A T synonymous_variant I176I 528T>A BRCA-US 4 54364970 54364970 single base substitution A T synonymous_variant I272I 816T>A BRCA-US 4 54373554 54373554 single base substitution C G exon_variant BRCA-US 4 54373554 54373554 single base substitution C G missense_variant K139N 417G>C BRCA-US 4 54373554 54373554 single base substitution C G missense_variant K235N 705G>C BRCA-US 4 54374205 54374205 single base substitution G A exon_variant BRCA-US 4 54374205 54374205 single base substitution G A synonymous_variant D190D 570C>T BRCA-US 4 54374205 54374205 single base substitution G A synonymous_variant D94D 282C>T BTCA-JP 4 54327212 54327212 deletion of <=200bp A - intron_variant BTCA-JP 4 54342990 54342990 single base substitution C A missense_variant D512Y 1534G>T BTCA-JP 4 54342990 54342990 single base substitution C A missense_variant D608Y 1822G>T BTCA-JP 4 54362298 54362298 single base substitution G A downstream_gene_variant BTCA-JP 4 54362298 54362298 single base substitution G A synonymous_variant G318G 954C>T BTCA-JP 4 54362298 54362298 single base substitution G A synonymous_variant G414G 1242C>T BTCA-JP 4 54362515 54362515 single base substitution C T downstream_gene_variant BTCA-JP 4 54362515 54362515 single base substitution C T missense_variant R246H 737G>A BTCA-JP 4 54362515 54362515 single base substitution C T missense_variant R342H 1025G>A BTCA-JP 4 54362597 54362597 single base substitution A C downstream_gene_variant BTCA-JP 4 54362597 54362597 single base substitution A C intron_variant CESC-US 4 54347998 54347998 single base substitution G A synonymous_variant L362L 1086C>T CESC-US 4 54347998 54347998 single base substitution G A synonymous_variant L458L 1374C>T CESC-US 4 54439888 54439888 single base substitution G A downstream_gene_variant CESC-US 4 54439888 54439888 single base substitution G A synonymous_variant V94V 282C>T CLLE-ES 4 54337481 54337481 single base substitution T C intron_variant CLLE-ES 4 54344816 54344816 single base substitution A G missense_variant S431P 1291T>C CLLE-ES 4 54344816 54344816 single base substitution A G missense_variant S527P 1579T>C CLLE-ES 4 54351120 54351120 single base substitution T C intron_variant CLLE-ES 4 54353161 54353161 single base substitution G A intron_variant CLLE-ES 4 54354981 54354981 single base substitution C T intron_variant CLLE-ES 4 54362713 54362713 single base substitution C T downstream_gene_variant CLLE-ES 4 54362713 54362713 single base substitution C T intron_variant CLLE-ES 4 54366843 54366843 single base substitution C G intron_variant CLLE-ES 4 54406875 54406875 single base substitution A C intron_variant CLLE-ES 4 54417254 54417254 single base substitution G T intron_variant CLLE-ES 4 54440222 54440222 single base substitution G T 5_prime_UTR_premature_start_codon_gain_variant CLLE-ES 4 54440222 54440222 single base substitution G T downstream_gene_variant CLLE-ES 4 54452240 54452240 single base substitution A G intron_variant CLLE-ES 4 54475099 54475099 single base substitution G A intron_variant CLLE-ES 4 54485213 54485213 single base substitution C T intron_variant CLLE-ES 4 54485213 54485213 single base substitution C T upstream_gene_variant CLLE-ES 4 54493214 54493214 single base substitution G A intron_variant CLLE-ES 4 54521290 54521290 single base substitution G A intron_variant CLLE-ES 4 54521290 54521290 single base substitution G A upstream_gene_variant CLLE-ES 4 54538196 54538196 single base substitution T G intron_variant CLLE-ES 4 54550088 54550088 single base substitution T C intron_variant CLLE-ES 4 54551667 54551667 single base substitution G T intron_variant CLLE-ES 4 54561746 54561746 single base substitution G C intron_variant COAD-US 4 54327078 54327078 deletion of <=200bp A - frameshift_variant L632 COAD-US 4 54327078 54327078 deletion of <=200bp A - frameshift_variant L728 COAD-US 4 54343101 54343101 single base substitution G A missense_variant R475W 1423C>T COAD-US 4 54343101 54343101 single base substitution G A missense_variant R571W 1711C>T COAD-US 4 54362383 54362383 single base substitution T G downstream_gene_variant COAD-US 4 54362383 54362383 single base substitution T G missense_variant K290T 869A>C COAD-US 4 54362383 54362383 single base substitution T G missense_variant K386T 1157A>C COAD-US 4 54362536 54362536 single base substitution A G downstream_gene_variant COAD-US 4 54362536 54362536 single base substitution A G missense_variant V239A 716T>C COAD-US 4 54362536 54362536 single base substitution A G missense_variant V335A 1004T>C COAD-US 4 54364913 54364913 single base substitution C T downstream_gene_variant COAD-US 4 54364913 54364913 single base substitution C T synonymous_variant V195V 585G>A COAD-US 4 54364913 54364913 single base substitution C T synonymous_variant V291V 873G>A COAD-US 4 54439821 54439821 single base substitution G A downstream_gene_variant COAD-US 4 54439821 54439821 single base substitution G A missense_variant R117C 349C>T COCA-CN 4 54324706 54324706 single base substitution G T downstream_gene_variant COCA-CN 4 54324805 54324805 single base substitution C A downstream_gene_variant COCA-CN 4 54327235 54327235 single base substitution T C intron_variant COCA-CN 4 54342876 54342876 single base substitution C T intron_variant COCA-CN 4 54343175 54343175 single base substitution C A intron_variant COCA-CN 4 54362150 54362150 single base substitution G A downstream_gene_variant COCA-CN 4 54362150 54362150 single base substitution G A intron_variant COCA-CN 4 54364673 54364673 single base substitution T C downstream_gene_variant COCA-CN 4 54364673 54364673 single base substitution T C intron_variant COCA-CN 4 54383536 54383536 single base substitution T A intron_variant COCA-CN 4 54439953 54439953 single base substitution C T downstream_gene_variant COCA-CN 4 54439953 54439953 single base substitution C T missense_variant D73N 217G>A COCA-CN 4 54440146 54440146 single base substitution G A downstream_gene_variant COCA-CN 4 54440146 54440146 single base substitution G A synonymous_variant N8N 24C>T COCA-CN 4 54518204 54518204 single base substitution G T intron_variant EOPC-DE 4 54332348 54332348 single base substitution G C intron_variant EOPC-DE 4 54366360 54366360 single base substitution G A intron_variant EOPC-DE 4 54386321 54386321 single base substitution G A intron_variant EOPC-DE 4 54433840 54433840 single base substitution C T intron_variant EOPC-DE 4 54503888 54503888 single base substitution C A intron_variant EOPC-DE 4 54554196 54554196 single base substitution G A intron_variant EOPC-DE 4 54572168 54572168 single base substitution G A upstream_gene_variant ESAD-UK 4 54320454 54320488 deletion of <=200bp AGGAGCAATAGGCTATAACATATCACCTAGTGTAT - downstream_gene_variant ESAD-UK 4 54320699 54320699 single base substitution A C downstream_gene_variant ESAD-UK 4 54320979 54320979 single base substitution G A downstream_gene_variant ESAD-UK 4 54322015 54322015 deletion of <=200bp T - downstream_gene_variant ESAD-UK 4 54322119 54322119 single base substitution G A downstream_gene_variant ESAD-UK 4 54324436 54324436 single base substitution C G downstream_gene_variant ESAD-UK 4 54327513 54327513 single base substitution A C intron_variant ESAD-UK 4 54328603 54328603 single base substitution G T intron_variant ESAD-UK 4 54331224 54331224 single base substitution G C intron_variant ESAD-UK 4 54338288 54338288 single base substitution A C intron_variant ESAD-UK 4 54338453 54338453 single base substitution A T intron_variant ESAD-UK 4 54343840 54343840 single base substitution C T intron_variant ESAD-UK 4 54344268 54344268 single base substitution C A intron_variant ESAD-UK 4 54345025 54345025 single base substitution T G intron_variant ESAD-UK 4 54345841 54345841 single base substitution T A intron_variant ESAD-UK 4 54350629 54350629 single base substitution C T intron_variant ESAD-UK 4 54351874 54351874 single base substitution C A intron_variant ESAD-UK 4 54352589 54352589 single base substitution C A intron_variant ESAD-UK 4 54355953 54355953 insertion of <=200bp - A intron_variant ESAD-UK 4 54358975 54358975 single base substitution G A intron_variant ESAD-UK 4 54362714 54362714 single base substitution G A downstream_gene_variant ESAD-UK 4 54362714 54362714 single base substitution G A intron_variant ESAD-UK 4 54365251 54365251 single base substitution C T intron_variant ESAD-UK 4 54368969 54368969 single base substitution T C intron_variant ESAD-UK 4 54369889 54369889 single base substitution G T intron_variant ESAD-UK 4 54370174 54370174 single base substitution C T intron_variant ESAD-UK 4 54378431 54378431 single base substitution G C intron_variant ESAD-UK 4 54378431 54378431 single base substitution G C upstream_gene_variant ESAD-UK 4 54378873 54378873 single base substitution T C intron_variant ESAD-UK 4 54378873 54378873 single base substitution T C upstream_gene_variant ESAD-UK 4 54379251 54379251 single base substitution G A intron_variant ESAD-UK 4 54379251 54379251 single base substitution G A upstream_gene_variant ESAD-UK 4 54380031 54380031 single base substitution A G intron_variant ESAD-UK 4 54380764 54380764 single base substitution C T intron_variant ESAD-UK 4 54383148 54383148 single base substitution C T intron_variant ESAD-UK 4 54387144 54387144 single base substitution C A intron_variant ESAD-UK 4 54389126 54389126 single base substitution C G intron_variant ESAD-UK 4 54390109 54390109 single base substitution C T intron_variant ESAD-UK 4 54393632 54393632 single base substitution G C intron_variant ESAD-UK 4 54395492 54395492 single base substitution C T intron_variant ESAD-UK 4 54396296 54396296 single base substitution C A intron_variant ESAD-UK 4 54396583 54396583 single base substitution C A intron_variant ESAD-UK 4 54397318 54397318 single base substitution T C intron_variant ESAD-UK 4 54403395 54403395 single base substitution G C intron_variant ESAD-UK 4 54405348 54405348 single base substitution G C intron_variant ESAD-UK 4 54405991 54405991 single base substitution G A intron_variant ESAD-UK 4 54406847 54406853 deletion of <=200bp CAAAAAA - intron_variant ESAD-UK 4 54410323 54410323 single base substitution T C intron_variant ESAD-UK 4 54411079 54411079 single base substitution T C intron_variant ESAD-UK 4 54411818 54411818 single base substitution G A intron_variant ESAD-UK 4 54411874 54411874 single base substitution T G intron_variant ESAD-UK 4 54411921 54411921 single base substitution G A intron_variant ESAD-UK 4 54412996 54412996 single base substitution C T intron_variant ESAD-UK 4 54413554 54413554 single base substitution C T intron_variant ESAD-UK 4 54414082 54414082 single base substitution G A intron_variant ESAD-UK 4 54418077 54418077 single base substitution A G intron_variant ESAD-UK 4 54419918 54419918 single base substitution A G intron_variant ESAD-UK 4 54421428 54421428 single base substitution G A intron_variant ESAD-UK 4 54421737 54421737 single base substitution T C intron_variant ESAD-UK 4 54426856 54426856 single base substitution G C intron_variant ESAD-UK 4 54426856 54426856 single base substitution G C upstream_gene_variant ESAD-UK 4 54428081 54428081 single base substitution G A intron_variant ESAD-UK 4 54428081 54428081 single base substitution G A upstream_gene_variant ESAD-UK 4 54428729 54428729 single base substitution C A intron_variant ESAD-UK 4 54428729 54428729 single base substitution C A upstream_gene_variant ESAD-UK 4 54437715 54437715 single base substitution G C downstream_gene_variant ESAD-UK 4 54437715 54437715 single base substitution G C intron_variant ESAD-UK 4 54438954 54438955 deletion of <=200bp GT - downstream_gene_variant ESAD-UK 4 54438954 54438955 deletion of <=200bp GT - intron_variant ESAD-UK 4 54440793 54440793 deletion of <=200bp G - intron_variant ESAD-UK 4 54440957 54440957 single base substitution G A intron_variant ESAD-UK 4 54441128 54441129 deletion of <=200bp TT - intron_variant ESAD-UK 4 54441152 54441152 single base substitution T A intron_variant ESAD-UK 4 54442149 54442149 single base substitution C T intron_variant ESAD-UK 4 54445087 54445087 deletion of <=200bp A - intron_variant ESAD-UK 4 54445778 54445778 single base substitution A G intron_variant ESAD-UK 4 54447293 54447293 single base substitution G T intron_variant ESAD-UK 4 54447670 54447670 single base substitution A C intron_variant ESAD-UK 4 54447742 54447742 single base substitution G T intron_variant ESAD-UK 4 54451097 54451097 single base substitution C T intron_variant ESAD-UK 4 54451468 54451468 single base substitution G T intron_variant ESAD-UK 4 54453473 54453483 deletion of <=200bp TTTTATGGTTT - intron_variant ESAD-UK 4 54457290 54457290 single base substitution G C intron_variant ESAD-UK 4 54461518 54461518 single base substitution G A intron_variant ESAD-UK 4 54461518 54461518 single base substitution G A upstream_gene_variant ESAD-UK 4 54465791 54465791 single base substitution C G intron_variant ESAD-UK 4 54466019 54466019 single base substitution T A intron_variant ESAD-UK 4 54467509 54467509 single base substitution G T intron_variant ESAD-UK 4 54469711 54469711 single base substitution A C intron_variant ESAD-UK 4 54471454 54471454 single base substitution T C intron_variant ESAD-UK 4 54472567 54472567 single base substitution G A intron_variant ESAD-UK 4 54474869 54474869 single base substitution A T intron_variant ESAD-UK 4 54475354 54475354 single base substitution G T intron_variant ESAD-UK 4 54475479 54475479 single base substitution T A intron_variant ESAD-UK 4 54476425 54476425 single base substitution C T intron_variant ESAD-UK 4 54478035 54478035 single base substitution C T intron_variant ESAD-UK 4 54479241 54479241 single base substitution G A intron_variant ESAD-UK 4 54481241 54481241 insertion of <=200bp - TGCTGAA intron_variant ESAD-UK 4 54484231 54484231 single base substitution T C intron_variant ESAD-UK 4 54484231 54484231 single base substitution T C upstream_gene_variant ESAD-UK 4 54488569 54488569 single base substitution T G intron_variant ESAD-UK 4 54488569 54488569 single base substitution T G upstream_gene_variant ESAD-UK 4 54488655 54488655 insertion of <=200bp - T intron_variant ESAD-UK 4 54488655 54488655 insertion of <=200bp - T upstream_gene_variant ESAD-UK 4 54488772 54488772 single base substitution G A intron_variant ESAD-UK 4 54489608 54489608 single base substitution C A intron_variant ESAD-UK 4 54490944 54490944 single base substitution C T intron_variant ESAD-UK 4 54491248 54491248 single base substitution A G intron_variant ESAD-UK 4 54492937 54492937 single base substitution T G intron_variant ESAD-UK 4 54493944 54493944 single base substitution A C intron_variant ESAD-UK 4 54493980 54493980 single base substitution G A intron_variant ESAD-UK 4 54494397 54494397 single base substitution A C intron_variant ESAD-UK 4 54495005 54495005 single base substitution A C intron_variant ESAD-UK 4 54496723 54496723 single base substitution C T intron_variant ESAD-UK 4 54500850 54500850 single base substitution G A intron_variant ESAD-UK 4 54503044 54503044 single base substitution T C intron_variant ESAD-UK 4 54504010 54504010 single base substitution G T intron_variant ESAD-UK 4 54505680 54505680 single base substitution C A intron_variant ESAD-UK 4 54505997 54505997 single base substitution G C intron_variant ESAD-UK 4 54506666 54506666 single base substitution A T intron_variant ESAD-UK 4 54508719 54508719 single base substitution C T intron_variant ESAD-UK 4 54509393 54509393 single base substitution C G intron_variant ESAD-UK 4 54510203 54510203 single base substitution C T intron_variant ESAD-UK 4 54510935 54510935 single base substitution G C intron_variant ESAD-UK 4 54510959 54510959 single base substitution C G intron_variant ESAD-UK 4 54513542 54513545 deletion of <=200bp TCTC - intron_variant ESAD-UK 4 54513733 54513741 deletion of <=200bp AAGAAAAAA - intron_variant ESAD-UK 4 54515541 54515541 single base substitution T C intron_variant ESAD-UK 4 54516707 54516707 single base substitution G A intron_variant ESAD-UK 4 54517952 54517952 single base substitution C G intron_variant ESAD-UK 4 54518177 54518177 insertion of <=200bp - TG intron_variant ESAD-UK 4 54518185 54518185 single base substitution T A intron_variant ESAD-UK 4 54518201 54518201 insertion of <=200bp - AGAT intron_variant ESAD-UK 4 54520304 54520304 single base substitution A T intron_variant ESAD-UK 4 54520304 54520304 single base substitution A T upstream_gene_variant ESAD-UK 4 54532642 54532642 single base substitution C G intron_variant ESAD-UK 4 54533527 54533527 single base substitution C A intron_variant ESAD-UK 4 54534318 54534318 single base substitution A G intron_variant ESAD-UK 4 54534660 54534660 single base substitution T G intron_variant ESAD-UK 4 54535066 54535066 single base substitution G A intron_variant ESAD-UK 4 54539387 54539387 single base substitution G A intron_variant ESAD-UK 4 54541567 54541567 deletion of <=200bp A - intron_variant ESAD-UK 4 54544127 54544127 single base substitution T G intron_variant ESAD-UK 4 54544824 54544824 single base substitution C T intron_variant ESAD-UK 4 54545580 54545580 single base substitution A C intron_variant ESAD-UK 4 54549064 54549064 single base substitution C G intron_variant ESAD-UK 4 54551275 54551275 single base substitution G A intron_variant ESAD-UK 4 54553579 54553579 single base substitution T A intron_variant ESAD-UK 4 54554213 54554213 single base substitution C T intron_variant ESAD-UK 4 54557850 54557850 single base substitution T C intron_variant ESAD-UK 4 54557963 54557963 single base substitution A G intron_variant ESAD-UK 4 54559256 54559256 single base substitution G A intron_variant ESAD-UK 4 54559432 54559432 single base substitution G T intron_variant ESAD-UK 4 54563027 54563027 single base substitution T A intron_variant ESAD-UK 4 54563028 54563028 single base substitution A T intron_variant ESAD-UK 4 54563997 54563997 single base substitution T C intron_variant ESAD-UK 4 54564939 54564939 single base substitution A C intron_variant ESAD-UK 4 54565225 54565225 single base substitution C T intron_variant ESAD-UK 4 54571939 54571939 single base substitution T C upstream_gene_variant ESCA-CN 4 54362257 54362257 single base substitution C T downstream_gene_variant ESCA-CN 4 54362257 54362257 single base substitution C T missense_variant R332H 995G>A ESCA-CN 4 54362257 54362257 single base substitution C T missense_variant R428H 1283G>A ESCA-CN 4 54374154 54374154 single base substitution C T splice_region_variant ESCA-CN 4 54423923 54423923 single base substitution A T intron_variant KIRP-US 4 54343069 54343069 single base substitution T C synonymous_variant T485T 1455A>G KIRP-US 4 54343069 54343069 single base substitution T C synonymous_variant T581T 1743A>G KIRP-US 4 54343092 54343092 single base substitution C T missense_variant A478T 1432G>A KIRP-US 4 54343092 54343092 single base substitution C T missense_variant A574T 1720G>A KIRP-US 4 54362298 54362298 single base substitution G A downstream_gene_variant KIRP-US 4 54362298 54362298 single base substitution G A synonymous_variant G318G 954C>T KIRP-US 4 54362298 54362298 single base substitution G A synonymous_variant G414G 1242C>T LAML-KR 4 54335333 54335333 single base substitution A G intron_variant LAML-KR 4 54335363 54335363 single base substitution C A intron_variant LAML-KR 4 54432405 54432405 single base substitution C G intron_variant LAML-KR 4 54465720 54465720 single base substitution G A intron_variant LGG-US 4 54324903 54324904 deletion of <=200bp AT - downstream_gene_variant LGG-US 4 54327127 54327127 single base substitution G A missense_variant L616F 1846C>T LGG-US 4 54327127 54327127 single base substitution G A missense_variant L712F 2134C>T LICA-FR 4 54332811 54332811 single base substitution C G intron_variant LICA-FR 4 54332861 54332861 single base substitution C T intron_variant LICA-FR 4 54332890 54332890 single base substitution A T intron_variant LICA-FR 4 54334281 54334281 single base substitution G A intron_variant LICA-FR 4 54335633 54335633 single base substitution C T intron_variant LICA-FR 4 54347997 54347997 single base substitution C A missense_variant V363F 1087G>T LICA-FR 4 54347997 54347997 single base substitution C A missense_variant V459F 1375G>T LICA-FR 4 54351479 54351479 single base substitution T C intron_variant LICA-FR 4 54373545 54373545 single base substitution A G exon_variant LICA-FR 4 54373545 54373545 single base substitution A G synonymous_variant S142S 426T>C LICA-FR 4 54373545 54373545 single base substitution A G synonymous_variant S238S 714T>C LICA-FR 4 54385606 54385606 deletion of <=200bp T - intron_variant LICA-FR 4 54395270 54395273 deletion of <=200bp ACAC - intron_variant LICA-FR 4 54411970 54411972 deletion of <=200bp TTT - intron_variant LICA-FR 4 54415281 54415281 single base substitution G A intron_variant LICA-FR 4 54439015 54439015 single base substitution C T downstream_gene_variant LICA-FR 4 54439015 54439015 single base substitution C T intron_variant LICA-FR 4 54442033 54442033 single base substitution C T intron_variant LICA-FR 4 54464637 54464637 single base substitution C T intron_variant LICA-FR 4 54470956 54470956 single base substitution G T intron_variant LICA-FR 4 54492008 54492009 deletion of <=200bp CC - intron_variant LICA-FR 4 54496222 54496222 single base substitution T C intron_variant LICA-FR 4 54502097 54502097 single base substitution A G intron_variant LICA-FR 4 54546221 54546232 deletion of <=200bp ACATGCTCTCTT - intron_variant LICA-FR 4 54562765 54562765 single base substitution A T intron_variant LICA-FR 4 54570235 54570235 single base substitution C T upstream_gene_variant LIHC-US 4 54373548 54373548 single base substitution C G exon_variant LIHC-US 4 54373548 54373548 single base substitution C G synonymous_variant G141G 423G>C LIHC-US 4 54373548 54373548 single base substitution C G synonymous_variant G237G 711G>C LINC-JP 4 54325535 54325535 single base substitution T G 3_prime_UTR_variant LINC-JP 4 54325535 54325535 single base substitution T G downstream_gene_variant LINC-JP 4 54327576 54327576 single base substitution T G intron_variant LINC-JP 4 54335527 54335527 single base substitution T C intron_variant LINC-JP 4 54344573 54344573 single base substitution G A intron_variant LINC-JP 4 54345036 54345036 single base substitution A G intron_variant LINC-JP 4 54362196 54362196 single base substitution C T downstream_gene_variant LINC-JP 4 54362196 54362196 single base substitution C T synonymous_variant L352L 1056G>A LINC-JP 4 54362196 54362196 single base substitution C T synonymous_variant L448L 1344G>A LINC-JP 4 54362597 54362597 single base substitution A C downstream_gene_variant LINC-JP 4 54362597 54362597 single base substitution A C intron_variant LINC-JP 4 54366426 54366426 deletion of <=200bp T - intron_variant LINC-JP 4 54367047 54367047 single base substitution T C intron_variant LINC-JP 4 54379009 54379009 single base substitution G T intron_variant LINC-JP 4 54379009 54379009 single base substitution G T upstream_gene_variant LINC-JP 4 54388871 54388871 single base substitution A T intron_variant LINC-JP 4 54393218 54393218 single base substitution T A intron_variant LINC-JP 4 54423608 54423608 single base substitution C T intron_variant LINC-JP 4 54428077 54428077 single base substitution G A intron_variant LINC-JP 4 54428077 54428077 single base substitution G A upstream_gene_variant LINC-JP 4 54430852 54430852 single base substitution C G intron_variant LINC-JP 4 54438709 54438709 deletion of <=200bp A - downstream_gene_variant LINC-JP 4 54438709 54438709 deletion of <=200bp A - intron_variant LINC-JP 4 54455349 54455349 single base substitution G T intron_variant LINC-JP 4 54466382 54466382 single base substitution C A intron_variant LINC-JP 4 54476905 54476905 single base substitution T A intron_variant LINC-JP 4 54478741 54478741 single base substitution C G intron_variant LINC-JP 4 54497674 54497674 single base substitution C A intron_variant LINC-JP 4 54501789 54501789 single base substitution G T intron_variant LINC-JP 4 54517197 54517197 single base substitution G A intron_variant LINC-JP 4 54528924 54528924 single base substitution A C intron_variant LINC-JP 4 54555530 54555530 deletion of <=200bp T - intron_variant LINC-JP 4 54556204 54556204 single base substitution A G intron_variant LINC-JP 4 54569168 54569168 single base substitution T G upstream_gene_variant LINC-JP 4 54569771 54569771 insertion of <=200bp - A upstream_gene_variant LIRI-JP 4 54323580 54323580 single base substitution T C downstream_gene_variant LIRI-JP 4 54323657 54323657 single base substitution C G downstream_gene_variant LIRI-JP 4 54323988 54323988 single base substitution A G downstream_gene_variant LIRI-JP 4 54323994 54323994 single base substitution A C downstream_gene_variant LIRI-JP 4 54325667 54325667 single base substitution A G 3_prime_UTR_variant LIRI-JP 4 54325667 54325667 single base substitution A G downstream_gene_variant LIRI-JP 4 54325996 54325996 single base substitution A C 3_prime_UTR_variant LIRI-JP 4 54325996 54325996 single base substitution A C downstream_gene_variant LIRI-JP 4 54326280 54326280 single base substitution T C 3_prime_UTR_variant LIRI-JP 4 54326280 54326280 single base substitution T C downstream_gene_variant LIRI-JP 4 54326629 54326629 single base substitution C G 3_prime_UTR_variant LIRI-JP 4 54327418 54327418 single base substitution A T intron_variant LIRI-JP 4 54327974 54327974 single base substitution T G intron_variant LIRI-JP 4 54328941 54328941 single base substitution T G intron_variant LIRI-JP 4 54329102 54329102 single base substitution T C intron_variant LIRI-JP 4 54329277 54329277 single base substitution A G intron_variant LIRI-JP 4 54330466 54330466 single base substitution T C intron_variant LIRI-JP 4 54332367 54332367 single base substitution G T intron_variant LIRI-JP 4 54332575 54332575 single base substitution G A intron_variant LIRI-JP 4 54333423 54333423 single base substitution T C intron_variant LIRI-JP 4 54333440 54333440 single base substitution T C intron_variant LIRI-JP 4 54334151 54334151 single base substitution C T intron_variant LIRI-JP 4 54337077 54337077 single base substitution A G intron_variant LIRI-JP 4 54337352 54337352 single base substitution C A intron_variant LIRI-JP 4 54340553 54340553 single base substitution A G intron_variant LIRI-JP 4 54341170 54341170 single base substitution A C intron_variant LIRI-JP 4 54341518 54341523 deletion of <=200bp TAAAGG - intron_variant LIRI-JP 4 54343632 54343632 single base substitution T C intron_variant LIRI-JP 4 54347135 54347135 single base substitution G T intron_variant LIRI-JP 4 54347136 54347136 single base substitution G T intron_variant LIRI-JP 4 54349784 54349784 single base substitution G C intron_variant LIRI-JP 4 54349898 54349898 single base substitution G C intron_variant LIRI-JP 4 54353803 54353803 single base substitution T C intron_variant LIRI-JP 4 54356695 54356695 deletion of <=200bp C - intron_variant LIRI-JP 4 54357632 54357632 single base substitution T C intron_variant LIRI-JP 4 54359604 54359604 single base substitution G A intron_variant LIRI-JP 4 54362040 54362047 deletion of <=200bp TGAAAATG - downstream_gene_variant LIRI-JP 4 54362040 54362047 deletion of <=200bp TGAAAATG - intron_variant LIRI-JP 4 54362394 54362394 single base substitution C T downstream_gene_variant LIRI-JP 4 54362394 54362394 single base substitution C T synonymous_variant V286V 858G>A LIRI-JP 4 54362394 54362394 single base substitution C T synonymous_variant V382V 1146G>A LIRI-JP 4 54367121 54367121 single base substitution T C intron_variant LIRI-JP 4 54367202 54367202 single base substitution A G intron_variant LIRI-JP 4 54367981 54367981 single base substitution A T intron_variant LIRI-JP 4 54368802 54368802 single base substitution G C intron_variant LIRI-JP 4 54371390 54371390 single base substitution T C intron_variant LIRI-JP 4 54371568 54371568 single base substitution C T intron_variant LIRI-JP 4 54371895 54371895 single base substitution G A intron_variant LIRI-JP 4 54372110 54372110 single base substitution A T intron_variant LIRI-JP 4 54372789 54372789 single base substitution A C intron_variant LIRI-JP 4 54372922 54372922 single base substitution C G intron_variant LIRI-JP 4 54374204 54374204 single base substitution C G exon_variant LIRI-JP 4 54374204 54374204 single base substitution C G missense_variant G191R 571G>C LIRI-JP 4 54374204 54374204 single base substitution C G missense_variant G95R 283G>C LIRI-JP 4 54374546 54374546 single base substitution A C exon_variant LIRI-JP 4 54374546 54374546 single base substitution A C intron_variant LIRI-JP 4 54375173 54375174 deletion of <=200bp AG - intron_variant LIRI-JP 4 54375173 54375174 deletion of <=200bp AG - upstream_gene_variant LIRI-JP 4 54375316 54375316 single base substitution G A intron_variant LIRI-JP 4 54375316 54375316 single base substitution G A upstream_gene_variant LIRI-JP 4 54375872 54375872 single base substitution G A intron_variant LIRI-JP 4 54375872 54375872 single base substitution G A upstream_gene_variant LIRI-JP 4 54376577 54376577 single base substitution A G intron_variant LIRI-JP 4 54376577 54376577 single base substitution A G upstream_gene_variant LIRI-JP 4 54377223 54377223 single base substitution T C intron_variant LIRI-JP 4 54377223 54377223 single base substitution T C upstream_gene_variant LIRI-JP 4 54377435 54377435 single base substitution T C intron_variant LIRI-JP 4 54377435 54377435 single base substitution T C upstream_gene_variant LIRI-JP 4 54378305 54378305 single base substitution C A intron_variant LIRI-JP 4 54378305 54378305 single base substitution C A upstream_gene_variant LIRI-JP 4 54381035 54381035 single base substitution T A intron_variant LIRI-JP 4 54382927 54382927 single base substitution T G intron_variant LIRI-JP 4 54384017 54384017 single base substitution T G intron_variant LIRI-JP 4 54384018 54384018 single base substitution C A intron_variant LIRI-JP 4 54385587 54385587 single base substitution T C intron_variant LIRI-JP 4 54386103 54386103 single base substitution C A intron_variant LIRI-JP 4 54389869 54389869 single base substitution C A intron_variant LIRI-JP 4 54392298 54392301 deletion of <=200bp ACAT - intron_variant LIRI-JP 4 54392346 54392349 deletion of <=200bp AACA - intron_variant LIRI-JP 4 54393588 54393588 single base substitution T A intron_variant LIRI-JP 4 54393617 54393617 single base substitution A G intron_variant LIRI-JP 4 54402784 54402784 deletion of <=200bp T - intron_variant LIRI-JP 4 54403256 54403256 single base substitution A G intron_variant LIRI-JP 4 54403267 54403267 single base substitution G A intron_variant LIRI-JP 4 54404864 54404864 single base substitution A T intron_variant LIRI-JP 4 54408555 54408555 single base substitution T C intron_variant LIRI-JP 4 54409181 54409181 single base substitution T C intron_variant LIRI-JP 4 54410553 54410553 single base substitution G T intron_variant LIRI-JP 4 54410959 54410959 single base substitution T C intron_variant LIRI-JP 4 54411800 54411800 single base substitution A C intron_variant LIRI-JP 4 54412301 54412331 deletion of <=200bp CTAAAGCTTGTTAATGTTTCATGACTGAACT - intron_variant LIRI-JP 4 54413576 54413576 single base substitution A G intron_variant LIRI-JP 4 54417264 54417264 single base substitution C T intron_variant LIRI-JP 4 54417772 54417772 single base substitution G A intron_variant LIRI-JP 4 54419622 54419622 single base substitution C T intron_variant LIRI-JP 4 54421396 54421396 single base substitution C G intron_variant LIRI-JP 4 54423754 54423754 single base substitution T C intron_variant LIRI-JP 4 54424078 54424078 single base substitution C A intron_variant LIRI-JP 4 54424078 54424078 single base substitution C A missense_variant D19Y 55G>T LIRI-JP 4 54436794 54436794 single base substitution C T downstream_gene_variant LIRI-JP 4 54436794 54436794 single base substitution C T intron_variant LIRI-JP 4 54437765 54437765 single base substitution C A downstream_gene_variant LIRI-JP 4 54437765 54437765 single base substitution C A intron_variant LIRI-JP 4 54439921 54439921 single base substitution A T downstream_gene_variant LIRI-JP 4 54439921 54439921 single base substitution A T synonymous_variant V83V 249T>A LIRI-JP 4 54441491 54441491 deletion of <=200bp T - intron_variant LIRI-JP 4 54442023 54442023 single base substitution T C intron_variant LIRI-JP 4 54443379 54443379 single base substitution C T intron_variant LIRI-JP 4 54445573 54445573 single base substitution C T intron_variant LIRI-JP 4 54449063 54449063 single base substitution G T intron_variant LIRI-JP 4 54449742 54449742 single base substitution G T intron_variant LIRI-JP 4 54450039 54450039 single base substitution G T intron_variant LIRI-JP 4 54450351 54450351 single base substitution C T intron_variant LIRI-JP 4 54451111 54451111 single base substitution A T intron_variant LIRI-JP 4 54451245 54451245 single base substitution C A intron_variant LIRI-JP 4 54451928 54451928 single base substitution A G intron_variant LIRI-JP 4 54453379 54453379 single base substitution C T intron_variant LIRI-JP 4 54454479 54454479 single base substitution T A intron_variant LIRI-JP 4 54455658 54455658 single base substitution T C intron_variant LIRI-JP 4 54458090 54458090 single base substitution C T intron_variant LIRI-JP 4 54458090 54458090 single base substitution C T upstream_gene_variant LIRI-JP 4 54460927 54460927 single base substitution A G intron_variant LIRI-JP 4 54460927 54460927 single base substitution A G upstream_gene_variant LIRI-JP 4 54461158 54461158 single base substitution T C intron_variant LIRI-JP 4 54461158 54461158 single base substitution T C upstream_gene_variant LIRI-JP 4 54461584 54461584 single base substitution A G intron_variant LIRI-JP 4 54461584 54461584 single base substitution A G upstream_gene_variant LIRI-JP 4 54467117 54467117 single base substitution C T intron_variant LIRI-JP 4 54467758 54467758 insertion of <=200bp - T intron_variant LIRI-JP 4 54468236 54468236 single base substitution C T intron_variant LIRI-JP 4 54476333 54476333 single base substitution A T intron_variant LIRI-JP 4 54476503 54476503 single base substitution A T intron_variant LIRI-JP 4 54482194 54482194 single base substitution T C intron_variant LIRI-JP 4 54482247 54482247 single base substitution T A intron_variant LIRI-JP 4 54486611 54486611 single base substitution C A intron_variant LIRI-JP 4 54486611 54486611 single base substitution C A upstream_gene_variant LIRI-JP 4 54487652 54487652 single base substitution T C intron_variant LIRI-JP 4 54487652 54487652 single base substitution T C upstream_gene_variant LIRI-JP 4 54488054 54488054 single base substitution T A intron_variant LIRI-JP 4 54488054 54488054 single base substitution T A upstream_gene_variant LIRI-JP 4 54488099 54488099 single base substitution T A intron_variant LIRI-JP 4 54488099 54488099 single base substitution T A upstream_gene_variant LIRI-JP 4 54488322 54488328 deletion of <=200bp TTTAGTG - intron_variant LIRI-JP 4 54488322 54488328 deletion of <=200bp TTTAGTG - upstream_gene_variant LIRI-JP 4 54488555 54488555 single base substitution G T intron_variant LIRI-JP 4 54488555 54488555 single base substitution G T upstream_gene_variant LIRI-JP 4 54488849 54488849 single base substitution T C intron_variant LIRI-JP 4 54490942 54490942 single base substitution C T intron_variant LIRI-JP 4 54492517 54492517 single base substitution T C intron_variant LIRI-JP 4 54493977 54493977 single base substitution C A intron_variant LIRI-JP 4 54497519 54497519 single base substitution C A intron_variant LIRI-JP 4 54500259 54500259 single base substitution T A intron_variant LIRI-JP 4 54501678 54501678 single base substitution T C intron_variant LIRI-JP 4 54502874 54502874 single base substitution C A intron_variant LIRI-JP 4 54502924 54502924 single base substitution C A intron_variant LIRI-JP 4 54502930 54502930 single base substitution A G intron_variant LIRI-JP 4 54504144 54504144 single base substitution A G intron_variant LIRI-JP 4 54505311 54505311 single base substitution T C intron_variant LIRI-JP 4 54505339 54505339 single base substitution T A intron_variant LIRI-JP 4 54506295 54506295 single base substitution G T intron_variant LIRI-JP 4 54507435 54507435 single base substitution A G intron_variant LIRI-JP 4 54507879 54507879 single base substitution T G intron_variant LIRI-JP 4 54510310 54510310 single base substitution T C intron_variant LIRI-JP 4 54512156 54512156 single base substitution A G intron_variant LIRI-JP 4 54516855 54516855 single base substitution G A intron_variant LIRI-JP 4 54517513 54517513 single base substitution C T intron_variant LIRI-JP 4 54518662 54518662 single base substitution G T 5_prime_UTR_variant LIRI-JP 4 54518662 54518662 single base substitution G T intron_variant LIRI-JP 4 54518662 54518662 single base substitution G T upstream_gene_variant LIRI-JP 4 54528338 54528338 single base substitution G C intron_variant LIRI-JP 4 54532480 54532480 single base substitution G T intron_variant LIRI-JP 4 54535207 54535207 single base substitution C T intron_variant LIRI-JP 4 54535486 54535486 single base substitution C A intron_variant LIRI-JP 4 54536399 54536399 single base substitution G T intron_variant LIRI-JP 4 54541586 54541586 single base substitution G A intron_variant LIRI-JP 4 54542449 54542449 single base substitution C T intron_variant LIRI-JP 4 54549523 54549523 single base substitution T G intron_variant LIRI-JP 4 54550230 54550230 single base substitution A C intron_variant LIRI-JP 4 54550921 54550921 single base substitution T G intron_variant LIRI-JP 4 54551323 54551323 single base substitution G T intron_variant LIRI-JP 4 54551808 54551808 single base substitution C A intron_variant LIRI-JP 4 54552885 54552885 single base substitution G C intron_variant LIRI-JP 4 54555099 54555101 deletion of <=200bp TCT - intron_variant LIRI-JP 4 54559541 54559541 single base substitution A G intron_variant LIRI-JP 4 54562415 54562415 single base substitution C T intron_variant LIRI-JP 4 54563094 54563094 single base substitution T C intron_variant LIRI-JP 4 54566420 54566420 single base substitution G T intron_variant LIRI-JP 4 54566559 54566559 single base substitution C A intron_variant LIRI-JP 4 54567658 54567658 single base substitution A G upstream_gene_variant LIRI-JP 4 54570975 54570975 single base substitution T G upstream_gene_variant LIRI-JP 4 54570976 54570976 single base substitution G C upstream_gene_variant LIRI-JP 4 54571842 54571842 single base substitution T C upstream_gene_variant LIRI-JP 4 54572287 54572287 single base substitution T C upstream_gene_variant LUSC-KR 4 54330998 54330998 single base substitution A T intron_variant LUSC-KR 4 54334941 54334941 single base substitution C G intron_variant LUSC-KR 4 54339813 54339813 single base substitution C A intron_variant LUSC-KR 4 54343279 54343279 single base substitution G A intron_variant LUSC-KR 4 54344348 54344348 single base substitution C A intron_variant LUSC-KR 4 54353544 54353544 single base substitution T G intron_variant LUSC-KR 4 54354808 54354808 single base substitution G C intron_variant LUSC-KR 4 54364941 54364941 single base substitution G T exon_variant LUSC-KR 4 54364941 54364941 single base substitution G T missense_variant P186H 557C>A LUSC-KR 4 54364941 54364941 single base substitution G T missense_variant P282H 845C>A LUSC-KR 4 54367226 54367226 single base substitution G A intron_variant LUSC-KR 4 54371053 54371053 single base substitution C A intron_variant LUSC-KR 4 54372212 54372212 single base substitution G C intron_variant LUSC-KR 4 54372493 54372493 single base substitution C A intron_variant LUSC-KR 4 54373464 54373464 single base substitution C T intron_variant LUSC-KR 4 54382079 54382079 single base substitution C T intron_variant LUSC-KR 4 54385665 54385665 single base substitution C T intron_variant LUSC-KR 4 54396002 54396002 single base substitution G A intron_variant LUSC-KR 4 54399653 54399653 single base substitution C A intron_variant LUSC-KR 4 54411412 54411412 single base substitution C A intron_variant LUSC-KR 4 54413331 54413331 single base substitution G A intron_variant LUSC-KR 4 54415190 54415190 single base substitution G A intron_variant LUSC-KR 4 54418848 54418848 single base substitution T C intron_variant LUSC-KR 4 54421438 54421438 single base substitution C T intron_variant LUSC-KR 4 54424055 54424055 single base substitution G C intron_variant LUSC-KR 4 54424055 54424055 single base substitution G C missense_variant F26L 78C>G LUSC-KR 4 54432285 54432285 single base substitution C T intron_variant LUSC-KR 4 54432405 54432405 single base substitution C G intron_variant LUSC-KR 4 54433370 54433370 single base substitution C G intron_variant LUSC-KR 4 54433391 54433391 single base substitution A C intron_variant LUSC-KR 4 54434599 54434599 single base substitution G C intron_variant LUSC-KR 4 54435449 54435449 single base substitution C G downstream_gene_variant LUSC-KR 4 54435449 54435449 single base substitution C G intron_variant LUSC-KR 4 54435457 54435457 single base substitution G A downstream_gene_variant LUSC-KR 4 54435457 54435457 single base substitution G A intron_variant LUSC-KR 4 54435632 54435632 single base substitution G A downstream_gene_variant LUSC-KR 4 54435632 54435632 single base substitution G A intron_variant LUSC-KR 4 54435951 54435951 single base substitution C G downstream_gene_variant LUSC-KR 4 54435951 54435951 single base substitution C G intron_variant LUSC-KR 4 54437224 54437224 single base substitution G A downstream_gene_variant LUSC-KR 4 54437224 54437224 single base substitution G A intron_variant LUSC-KR 4 54441857 54441857 single base substitution C T intron_variant LUSC-KR 4 54444886 54444886 single base substitution C T intron_variant LUSC-KR 4 54445355 54445355 single base substitution G A intron_variant LUSC-KR 4 54450785 54450785 single base substitution G C intron_variant LUSC-KR 4 54456331 54456331 single base substitution G A intron_variant LUSC-KR 4 54461311 54461311 single base substitution G A intron_variant LUSC-KR 4 54461311 54461311 single base substitution G A upstream_gene_variant LUSC-KR 4 54462610 54462610 single base substitution G T intron_variant LUSC-KR 4 54462610 54462610 single base substitution G T upstream_gene_variant LUSC-KR 4 54462884 54462884 single base substitution T A intron_variant LUSC-KR 4 54462884 54462884 single base substitution T A upstream_gene_variant LUSC-KR 4 54463185 54463185 single base substitution G C intron_variant LUSC-KR 4 54463535 54463535 single base substitution T A intron_variant LUSC-KR 4 54465026 54465026 single base substitution A C intron_variant LUSC-KR 4 54470868 54470868 single base substitution A G intron_variant LUSC-KR 4 54471412 54471412 single base substitution C T intron_variant LUSC-KR 4 54471589 54471589 single base substitution A G intron_variant LUSC-KR 4 54472941 54472941 single base substitution C T intron_variant LUSC-KR 4 54475076 54475076 single base substitution G T intron_variant LUSC-KR 4 54476656 54476656 single base substitution C A intron_variant LUSC-KR 4 54480028 54480028 single base substitution C G intron_variant LUSC-KR 4 54480796 54480796 single base substitution A T intron_variant LUSC-KR 4 54487446 54487446 single base substitution C G intron_variant LUSC-KR 4 54487446 54487446 single base substitution C G upstream_gene_variant LUSC-KR 4 54493605 54493605 single base substitution A G intron_variant LUSC-KR 4 54498938 54498938 single base substitution A C intron_variant LUSC-KR 4 54499617 54499617 single base substitution C G intron_variant LUSC-KR 4 54502824 54502824 single base substitution C A intron_variant LUSC-KR 4 54505059 54505059 single base substitution G A intron_variant LUSC-KR 4 54505798 54505798 single base substitution T G intron_variant LUSC-KR 4 54514810 54514810 single base substitution T C intron_variant LUSC-KR 4 54516971 54516971 single base substitution G A intron_variant LUSC-KR 4 54524408 54524408 single base substitution G C intron_variant LUSC-KR 4 54525380 54525380 single base substitution G T intron_variant LUSC-KR 4 54530645 54530645 single base substitution C T intron_variant LUSC-KR 4 54532972 54532972 single base substitution C T intron_variant LUSC-KR 4 54533575 54533575 single base substitution A G intron_variant LUSC-KR 4 54540420 54540420 single base substitution G A intron_variant LUSC-KR 4 54541599 54541599 single base substitution G T intron_variant LUSC-KR 4 54546522 54546522 single base substitution G T intron_variant LUSC-KR 4 54546787 54546787 single base substitution C T intron_variant LUSC-KR 4 54547540 54547540 single base substitution C A intron_variant LUSC-KR 4 54552156 54552156 single base substitution A T intron_variant LUSC-KR 4 54554063 54554063 single base substitution G A intron_variant LUSC-KR 4 54557355 54557355 single base substitution A G intron_variant LUSC-KR 4 54557438 54557438 single base substitution G T intron_variant LUSC-KR 4 54560175 54560175 single base substitution A G intron_variant LUSC-KR 4 54561969 54561969 single base substitution G A intron_variant LUSC-KR 4 54562026 54562026 single base substitution C A intron_variant LUSC-KR 4 54562079 54562079 single base substitution C A intron_variant LUSC-KR 4 54563966 54563966 single base substitution C T intron_variant LUSC-KR 4 54566841 54566841 single base substitution G T intron_variant LUSC-KR 4 54566842 54566842 single base substitution C T intron_variant LUSC-KR 4 54567177 54567177 single base substitution T C intron_variant LUSC-KR 4 54567434 54567434 single base substitution G A intron_variant LUSC-KR 4 54571027 54571027 single base substitution G T upstream_gene_variant LUSC-US 4 54327114 54327114 single base substitution A G missense_variant I620T 1859T>C LUSC-US 4 54327114 54327114 single base substitution A G missense_variant I716T 2147T>C LUSC-US 4 54343060 54343060 single base substitution C G synonymous_variant S488S 1464G>C LUSC-US 4 54343060 54343060 single base substitution C G synonymous_variant S584S 1752G>C LUSC-US 4 54440061 54440061 single base substitution C T downstream_gene_variant LUSC-US 4 54440061 54440061 single base substitution C T missense_variant D37N 109G>A MALY-DE 4 54325942 54325942 single base substitution G T 3_prime_UTR_variant MALY-DE 4 54325942 54325942 single base substitution G T downstream_gene_variant MALY-DE 4 54327703 54327703 single base substitution G A synonymous_variant G554G 1662C>T MALY-DE 4 54327703 54327703 single base substitution G A synonymous_variant G650G 1950C>T MALY-DE 4 54329114 54329114 single base substitution A G intron_variant MALY-DE 4 54346223 54346223 single base substitution T A intron_variant MALY-DE 4 54349013 54349013 single base substitution T G intron_variant MALY-DE 4 54356061 54356061 deletion of <=200bp A - intron_variant MALY-DE 4 54358674 54358675 deletion of <=200bp GA - intron_variant MALY-DE 4 54360215 54360215 single base substitution T C downstream_gene_variant MALY-DE 4 54360215 54360215 single base substitution T C intron_variant MALY-DE 4 54362896 54362896 single base substitution G A downstream_gene_variant MALY-DE 4 54362896 54362896 single base substitution G A intron_variant MALY-DE 4 54366426 54366426 insertion of <=200bp - T intron_variant MALY-DE 4 54375453 54375453 single base substitution A C intron_variant MALY-DE 4 54375453 54375453 single base substitution A C upstream_gene_variant MALY-DE 4 54378643 54378643 single base substitution T C intron_variant MALY-DE 4 54378643 54378643 single base substitution T C upstream_gene_variant MALY-DE 4 54379905 54379905 single base substitution C A intron_variant MALY-DE 4 54384588 54384588 single base substitution T C intron_variant MALY-DE 4 54393252 54393252 single base substitution A G intron_variant MALY-DE 4 54401642 54401642 single base substitution A C intron_variant MALY-DE 4 54401702 54401702 single base substitution A C intron_variant MALY-DE 4 54409123 54409123 single base substitution A G intron_variant MALY-DE 4 54412995 54412995 single base substitution T G intron_variant MALY-DE 4 54416243 54416243 deletion of <=200bp A - intron_variant MALY-DE 4 54416618 54416618 deletion of <=200bp T - intron_variant MALY-DE 4 54422962 54422962 single base substitution T G intron_variant MALY-DE 4 54426487 54426487 single base substitution G A intron_variant MALY-DE 4 54426487 54426487 single base substitution G A upstream_gene_variant MALY-DE 4 54428426 54428426 single base substitution G A intron_variant MALY-DE 4 54428426 54428426 single base substitution G A upstream_gene_variant MALY-DE 4 54437843 54437843 insertion of <=200bp - T downstream_gene_variant MALY-DE 4 54437843 54437843 insertion of <=200bp - T intron_variant MALY-DE 4 54444028 54444028 single base substitution G T intron_variant MALY-DE 4 54445582 54445582 single base substitution A G intron_variant MALY-DE 4 54454097 54454097 single base substitution T G intron_variant MALY-DE 4 54456243 54456243 insertion of <=200bp - C intron_variant MALY-DE 4 54462037 54462037 deletion of <=200bp T - intron_variant MALY-DE 4 54462037 54462037 deletion of <=200bp T - upstream_gene_variant MALY-DE 4 54468756 54468756 single base substitution C T intron_variant MALY-DE 4 54472575 54472575 single base substitution C T intron_variant MALY-DE 4 54476951 54476954 deletion of <=200bp ATAA - intron_variant MALY-DE 4 54486194 54486194 single base substitution C A intron_variant MALY-DE 4 54486194 54486194 single base substitution C A upstream_gene_variant MALY-DE 4 54489423 54489423 single base substitution T C intron_variant MALY-DE 4 54490215 54490215 single base substitution G A intron_variant MALY-DE 4 54495040 54495040 single base substitution G T intron_variant MALY-DE 4 54495935 54495935 single base substitution A G intron_variant MALY-DE 4 54501498 54501498 single base substitution G A intron_variant MALY-DE 4 54502336 54502336 single base substitution T G intron_variant MALY-DE 4 54503623 54503623 single base substitution T C intron_variant MALY-DE 4 54503685 54503685 single base substitution T G intron_variant MALY-DE 4 54503758 54503758 single base substitution T A intron_variant MALY-DE 4 54503774 54503774 single base substitution T C intron_variant MALY-DE 4 54505400 54505401 deletion of <=200bp AG - intron_variant MALY-DE 4 54522440 54522440 single base substitution T C intron_variant MALY-DE 4 54522440 54522440 single base substitution T C upstream_gene_variant MALY-DE 4 54522441 54522441 single base substitution C A intron_variant MALY-DE 4 54522441 54522441 single base substitution C A upstream_gene_variant MALY-DE 4 54523451 54523451 single base substitution G C intron_variant MALY-DE 4 54523451 54523451 single base substitution G C upstream_gene_variant MALY-DE 4 54525996 54525996 single base substitution G T intron_variant MALY-DE 4 54528616 54528616 single base substitution G A intron_variant MALY-DE 4 54530658 54530658 single base substitution G A intron_variant MALY-DE 4 54533196 54533196 single base substitution C A intron_variant MALY-DE 4 54541567 54541567 single base substitution A T intron_variant MALY-DE 4 54550642 54550658 deletion of <=200bp AAGCTGGTCCTTATCTC - intron_variant MALY-DE 4 54554445 54554445 single base substitution A T intron_variant MALY-DE 4 54556583 54556583 single base substitution C T intron_variant MALY-DE 4 54563194 54563194 single base substitution G T intron_variant MALY-DE 4 54566442 54566442 single base substitution C T intron_variant MALY-DE 4 54570974 54570974 single base substitution T A upstream_gene_variant MELA-AU 4 54320581 54320581 single base substitution C T downstream_gene_variant MELA-AU 4 54321152 54321152 single base substitution C G downstream_gene_variant MELA-AU 4 54321991 54321992 multiple base substitution (>=2bp and <=200bp) GG AA downstream_gene_variant MELA-AU 4 54322760 54322760 single base substitution C T downstream_gene_variant MELA-AU 4 54322783 54322783 single base substitution C T downstream_gene_variant MELA-AU 4 54322918 54322918 single base substitution G A downstream_gene_variant MELA-AU 4 54324086 54324086 single base substitution C T downstream_gene_variant MELA-AU 4 54325115 54325115 single base substitution G A downstream_gene_variant MELA-AU 4 54325983 54325983 single base substitution G A 3_prime_UTR_variant MELA-AU 4 54325983 54325983 single base substitution G A downstream_gene_variant MELA-AU 4 54326436 54326436 single base substitution C T 3_prime_UTR_variant MELA-AU 4 54326436 54326436 single base substitution C T downstream_gene_variant MELA-AU 4 54326956 54326956 single base substitution C T 3_prime_UTR_variant MELA-AU 4 54327582 54327582 single base substitution T C intron_variant MELA-AU 4 54328040 54328040 single base substitution C T intron_variant MELA-AU 4 54328166 54328166 single base substitution C T intron_variant MELA-AU 4 54328504 54328504 single base substitution C T intron_variant MELA-AU 4 54329195 54329195 single base substitution G A intron_variant MELA-AU 4 54329471 54329471 single base substitution C T intron_variant MELA-AU 4 54329472 54329472 single base substitution C T intron_variant MELA-AU 4 54329725 54329725 single base substitution G T intron_variant MELA-AU 4 54329839 54329839 single base substitution G C intron_variant MELA-AU 4 54330103 54330103 single base substitution C A intron_variant MELA-AU 4 54330279 54330279 single base substitution G C intron_variant MELA-AU 4 54330737 54330737 single base substitution G C intron_variant MELA-AU 4 54330861 54330861 single base substitution G C intron_variant MELA-AU 4 54330937 54330937 single base substitution G C intron_variant MELA-AU 4 54331066 54331066 single base substitution A G intron_variant MELA-AU 4 54331299 54331299 single base substitution C T intron_variant MELA-AU 4 54331490 54331490 single base substitution T C intron_variant MELA-AU 4 54331763 54331763 single base substitution C T intron_variant MELA-AU 4 54331787 54331787 single base substitution C T intron_variant MELA-AU 4 54332335 54332335 single base substitution C T intron_variant MELA-AU 4 54332477 54332477 single base substitution A G intron_variant MELA-AU 4 54332542 54332542 single base substitution C T intron_variant MELA-AU 4 54332543 54332543 single base substitution C T intron_variant MELA-AU 4 54332998 54332998 single base substitution G A intron_variant MELA-AU 4 54333544 54333544 single base substitution C T intron_variant MELA-AU 4 54334232 54334232 single base substitution G A intron_variant MELA-AU 4 54334354 54334354 single base substitution C T intron_variant MELA-AU 4 54334526 54334526 single base substitution G A intron_variant MELA-AU 4 54334753 54334753 single base substitution C T intron_variant MELA-AU 4 54335042 54335042 single base substitution C T intron_variant MELA-AU 4 54335074 54335074 single base substitution C T intron_variant MELA-AU 4 54336676 54336676 single base substitution G A intron_variant MELA-AU 4 54337107 54337107 single base substitution C T intron_variant MELA-AU 4 54337167 54337167 single base substitution C T intron_variant MELA-AU 4 54337405 54337405 single base substitution G A intron_variant MELA-AU 4 54337659 54337659 single base substitution G A intron_variant MELA-AU 4 54337660 54337660 single base substitution G A intron_variant MELA-AU 4 54337663 54337663 single base substitution C T intron_variant MELA-AU 4 54337812 54337812 single base substitution G A intron_variant MELA-AU 4 54337819 54337819 single base substitution A T intron_variant MELA-AU 4 54338479 54338479 single base substitution G A intron_variant MELA-AU 4 54338725 54338725 single base substitution T G intron_variant MELA-AU 4 54339343 54339343 single base substitution G A intron_variant MELA-AU 4 54339419 54339419 single base substitution G A intron_variant MELA-AU 4 54339619 54339619 single base substitution C T intron_variant MELA-AU 4 54339655 54339655 single base substitution C T intron_variant MELA-AU 4 54340245 54340245 single base substitution G A intron_variant MELA-AU 4 54340548 54340548 single base substitution C T intron_variant MELA-AU 4 54340758 54340758 single base substitution T C intron_variant MELA-AU 4 54340799 54340799 single base substitution C T intron_variant MELA-AU 4 54341057 54341057 single base substitution C T intron_variant MELA-AU 4 54341090 54341091 multiple base substitution (>=2bp and <=200bp) CG AT intron_variant MELA-AU 4 54341392 54341392 single base substitution G A intron_variant MELA-AU 4 54341476 54341476 single base substitution G A intron_variant MELA-AU 4 54341641 54341641 single base substitution A G intron_variant MELA-AU 4 54342078 54342078 single base substitution C T intron_variant MELA-AU 4 54342579 54342579 single base substitution C T intron_variant MELA-AU 4 54342946 54342946 single base substitution G A synonymous_variant S526S 1578C>T MELA-AU 4 54342946 54342946 single base substitution G A synonymous_variant S622S 1866C>T MELA-AU 4 54343325 54343325 single base substitution C T intron_variant MELA-AU 4 54343736 54343736 single base substitution C T intron_variant MELA-AU 4 54343795 54343795 single base substitution C T intron_variant MELA-AU 4 54344122 54344122 single base substitution C T intron_variant MELA-AU 4 54344211 54344211 single base substitution C T intron_variant MELA-AU 4 54344322 54344322 single base substitution C T intron_variant MELA-AU 4 54344386 54344386 single base substitution G A intron_variant MELA-AU 4 54344682 54344682 single base substitution C T intron_variant MELA-AU 4 54344849 54344849 single base substitution C T missense_variant E420K 1258G>A MELA-AU 4 54344849 54344849 single base substitution C T missense_variant E516K 1546G>A MELA-AU 4 54344924 54344924 single base substitution G A intron_variant MELA-AU 4 54345180 54345180 single base substitution G A intron_variant MELA-AU 4 54345472 54345472 single base substitution C T intron_variant MELA-AU 4 54345817 54345817 single base substitution T A intron_variant MELA-AU 4 54345957 54345957 single base substitution C T intron_variant MELA-AU 4 54346258 54346258 single base substitution T C intron_variant MELA-AU 4 54346420 54346420 single base substitution A T intron_variant MELA-AU 4 54346536 54346536 single base substitution G A intron_variant MELA-AU 4 54346680 54346680 single base substitution C T intron_variant MELA-AU 4 54347210 54347210 single base substitution G A intron_variant MELA-AU 4 54347729 54347729 single base substitution C T intron_variant MELA-AU 4 54347745 54347745 single base substitution G A intron_variant MELA-AU 4 54347907 54347907 single base substitution C T missense_variant E393K 1177G>A MELA-AU 4 54347907 54347907 single base substitution C T missense_variant E489K 1465G>A MELA-AU 4 54347920 54347920 single base substitution G A synonymous_variant S388S 1164C>T MELA-AU 4 54347920 54347920 single base substitution G A synonymous_variant S484S 1452C>T MELA-AU 4 54347947 54347947 single base substitution G A synonymous_variant A379A 1137C>T MELA-AU 4 54347947 54347947 single base substitution G A synonymous_variant A475A 1425C>T MELA-AU 4 54347993 54347993 single base substitution A G missense_variant V364A 1091T>C MELA-AU 4 54347993 54347993 single base substitution A G missense_variant V460A 1379T>C MELA-AU 4 54348060 54348060 single base substitution C T intron_variant MELA-AU 4 54348121 54348121 single base substitution T G intron_variant MELA-AU 4 54348167 54348167 single base substitution C T intron_variant MELA-AU 4 54348187 54348187 single base substitution A T intron_variant MELA-AU 4 54348474 54348474 single base substitution G A intron_variant MELA-AU 4 54348506 54348506 single base substitution G A intron_variant MELA-AU 4 54348554 54348554 single base substitution A G intron_variant MELA-AU 4 54348704 54348704 single base substitution G A intron_variant MELA-AU 4 54348733 54348733 single base substitution G A intron_variant MELA-AU 4 54348823 54348823 single base substitution G A intron_variant MELA-AU 4 54348851 54348851 single base substitution G A intron_variant MELA-AU 4 54348947 54348947 single base substitution A C intron_variant MELA-AU 4 54349821 54349821 single base substitution G A intron_variant MELA-AU 4 54349832 54349832 single base substitution G A intron_variant MELA-AU 4 54349936 54349936 single base substitution G A intron_variant MELA-AU 4 54349972 54349972 single base substitution G A intron_variant MELA-AU 4 54350066 54350066 single base substitution C T intron_variant MELA-AU 4 54350086 54350086 single base substitution C G intron_variant MELA-AU 4 54350173 54350173 single base substitution G A intron_variant MELA-AU 4 54350212 54350212 single base substitution C G intron_variant MELA-AU 4 54350387 54350387 single base substitution G A intron_variant MELA-AU 4 54350406 54350406 single base substitution C G intron_variant MELA-AU 4 54350672 54350672 single base substitution G A intron_variant MELA-AU 4 54350749 54350749 single base substitution C G intron_variant MELA-AU 4 54350765 54350765 single base substitution C T intron_variant MELA-AU 4 54350785 54350785 single base substitution C G intron_variant MELA-AU 4 54350822 54350822 single base substitution G A intron_variant MELA-AU 4 54350902 54350902 single base substitution G A intron_variant MELA-AU 4 54350978 54350978 single base substitution T C intron_variant MELA-AU 4 54350989 54350989 single base substitution C T intron_variant MELA-AU 4 54351068 54351068 single base substitution T C intron_variant MELA-AU 4 54351071 54351071 single base substitution C G intron_variant MELA-AU 4 54351080 54351080 single base substitution C T intron_variant MELA-AU 4 54351136 54351136 single base substitution C T intron_variant MELA-AU 4 54351151 54351151 single base substitution C T intron_variant MELA-AU 4 54351322 54351322 single base substitution A G intron_variant MELA-AU 4 54351333 54351333 single base substitution G A intron_variant MELA-AU 4 54351383 54351383 single base substitution C T intron_variant MELA-AU 4 54351434 54351434 single base substitution C T intron_variant MELA-AU 4 54351489 54351489 single base substitution T C intron_variant MELA-AU 4 54351585 54351585 single base substitution C T intron_variant MELA-AU 4 54352022 54352022 single base substitution T C intron_variant MELA-AU 4 54352089 54352089 single base substitution G A intron_variant MELA-AU 4 54352228 54352228 single base substitution C T intron_variant MELA-AU 4 54352353 54352353 single base substitution T A intron_variant MELA-AU 4 54352651 54352651 single base substitution C T intron_variant MELA-AU 4 54352747 54352747 single base substitution G A intron_variant MELA-AU 4 54352775 54352775 single base substitution G A intron_variant MELA-AU 4 54352899 54352899 single base substitution G A intron_variant MELA-AU 4 54353853 54353853 single base substitution C T intron_variant MELA-AU 4 54354019 54354019 single base substitution T C intron_variant MELA-AU 4 54354147 54354147 single base substitution C T intron_variant MELA-AU 4 54354173 54354173 single base substitution C T intron_variant MELA-AU 4 54354350 54354350 single base substitution G A intron_variant MELA-AU 4 54354440 54354440 single base substitution C T intron_variant MELA-AU 4 54354496 54354496 single base substitution C T intron_variant MELA-AU 4 54354821 54354821 single base substitution C T intron_variant MELA-AU 4 54354916 54354916 single base substitution C T intron_variant MELA-AU 4 54354918 54354918 single base substitution C T intron_variant MELA-AU 4 54355055 54355055 single base substitution T G intron_variant MELA-AU 4 54355111 54355111 single base substitution G A intron_variant MELA-AU 4 54355462 54355462 single base substitution G A intron_variant MELA-AU 4 54355474 54355474 single base substitution C T intron_variant MELA-AU 4 54355500 54355500 single base substitution C T intron_variant MELA-AU 4 54355791 54355791 single base substitution C A intron_variant MELA-AU 4 54355946 54355946 single base substitution G A intron_variant MELA-AU 4 54356298 54356298 single base substitution C T intron_variant MELA-AU 4 54356447 54356447 single base substitution G A intron_variant MELA-AU 4 54356836 54356836 single base substitution T C intron_variant MELA-AU 4 54357181 54357181 single base substitution T C intron_variant MELA-AU 4 54357204 54357204 single base substitution G A intron_variant MELA-AU 4 54357376 54357376 single base substitution G A intron_variant MELA-AU 4 54357377 54357377 single base substitution G A intron_variant MELA-AU 4 54357697 54357697 single base substitution T C intron_variant MELA-AU 4 54357819 54357819 single base substitution C T intron_variant MELA-AU 4 54358337 54358337 single base substitution G A intron_variant MELA-AU 4 54358577 54358577 single base substitution T C intron_variant MELA-AU 4 54358627 54358627 single base substitution G A intron_variant MELA-AU 4 54358669 54358669 single base substitution G A intron_variant MELA-AU 4 54358811 54358811 single base substitution G A intron_variant MELA-AU 4 54358968 54358968 single base substitution G A intron_variant MELA-AU 4 54359098 54359098 single base substitution G A intron_variant MELA-AU 4 54359567 54359567 single base substitution G A intron_variant MELA-AU 4 54359630 54359630 single base substitution C T intron_variant MELA-AU 4 54359648 54359648 single base substitution C T intron_variant MELA-AU 4 54359705 54359705 single base substitution G A intron_variant MELA-AU 4 54360059 54360059 single base substitution C T downstream_gene_variant MELA-AU 4 54360059 54360059 single base substitution C T intron_variant MELA-AU 4 54360286 54360286 single base substitution C T downstream_gene_variant MELA-AU 4 54360286 54360286 single base substitution C T intron_variant MELA-AU 4 54360303 54360303 single base substitution G A downstream_gene_variant MELA-AU 4 54360303 54360303 single base substitution G A intron_variant MELA-AU 4 54360758 54360758 single base substitution T C downstream_gene_variant MELA-AU 4 54360758 54360758 single base substitution T C intron_variant MELA-AU 4 54360833 54360833 single base substitution G A downstream_gene_variant MELA-AU 4 54360833 54360833 single base substitution G A intron_variant MELA-AU 4 54360879 54360879 single base substitution C T downstream_gene_variant MELA-AU 4 54360879 54360879 single base substitution C T intron_variant MELA-AU 4 54360939 54360939 single base substitution G A downstream_gene_variant MELA-AU 4 54360939 54360939 single base substitution G A intron_variant MELA-AU 4 54361215 54361215 single base substitution G A downstream_gene_variant MELA-AU 4 54361215 54361215 single base substitution G A intron_variant MELA-AU 4 54361549 54361549 single base substitution G A downstream_gene_variant MELA-AU 4 54361549 54361549 single base substitution G A intron_variant MELA-AU 4 54361586 54361586 single base substitution C T downstream_gene_variant MELA-AU 4 54361586 54361586 single base substitution C T intron_variant MELA-AU 4 54361690 54361690 single base substitution G A downstream_gene_variant MELA-AU 4 54361690 54361690 single base substitution G A intron_variant MELA-AU 4 54361817 54361817 single base substitution C T downstream_gene_variant MELA-AU 4 54361817 54361817 single base substitution C T intron_variant MELA-AU 4 54361980 54361980 single base substitution G A downstream_gene_variant MELA-AU 4 54361980 54361980 single base substitution G A intron_variant MELA-AU 4 54362066 54362066 single base substitution C T downstream_gene_variant MELA-AU 4 54362066 54362066 single base substitution C T intron_variant MELA-AU 4 54362127 54362127 single base substitution G A downstream_gene_variant MELA-AU 4 54362127 54362127 single base substitution G A intron_variant MELA-AU 4 54362425 54362425 single base substitution G A downstream_gene_variant MELA-AU 4 54362425 54362425 single base substitution G A missense_variant A276V 827C>T MELA-AU 4 54362425 54362425 single base substitution G A missense_variant A372V 1115C>T MELA-AU 4 54362706 54362706 single base substitution C T downstream_gene_variant MELA-AU 4 54362706 54362706 single base substitution C T intron_variant MELA-AU 4 54362792 54362792 single base substitution C T downstream_gene_variant MELA-AU 4 54362792 54362792 single base substitution C T intron_variant MELA-AU 4 54362822 54362822 single base substitution C T downstream_gene_variant MELA-AU 4 54362822 54362822 single base substitution C T intron_variant MELA-AU 4 54362942 54362942 single base substitution G A downstream_gene_variant MELA-AU 4 54362942 54362942 single base substitution G A intron_variant MELA-AU 4 54362985 54362985 single base substitution C T downstream_gene_variant MELA-AU 4 54362985 54362985 single base substitution C T intron_variant MELA-AU 4 54363417 54363417 single base substitution C T downstream_gene_variant MELA-AU 4 54363417 54363417 single base substitution C T intron_variant MELA-AU 4 54363488 54363488 single base substitution G A downstream_gene_variant MELA-AU 4 54363488 54363488 single base substitution G A intron_variant MELA-AU 4 54363655 54363655 single base substitution A C downstream_gene_variant MELA-AU 4 54363655 54363655 single base substitution A C intron_variant MELA-AU 4 54364502 54364502 single base substitution G A downstream_gene_variant MELA-AU 4 54364502 54364502 single base substitution G A intron_variant MELA-AU 4 54364950 54364950 single base substitution C T exon_variant MELA-AU 4 54364950 54364950 single base substitution C T missense_variant R183Q 548G>A MELA-AU 4 54364950 54364950 single base substitution C T missense_variant R279Q 836G>A MELA-AU 4 54365019 54365019 single base substitution G A intron_variant MELA-AU 4 54365061 54365061 single base substitution C T intron_variant MELA-AU 4 54365250 54365250 single base substitution C T intron_variant MELA-AU 4 54365515 54365515 single base substitution G A intron_variant MELA-AU 4 54365581 54365581 single base substitution C G intron_variant MELA-AU 4 54365617 54365617 single base substitution C T intron_variant MELA-AU 4 54365809 54365809 single base substitution G A intron_variant MELA-AU 4 54366072 54366072 single base substitution C T intron_variant MELA-AU 4 54366148 54366148 single base substitution T A intron_variant MELA-AU 4 54366244 54366244 single base substitution G T intron_variant MELA-AU 4 54366583 54366583 single base substitution G A intron_variant MELA-AU 4 54366619 54366619 single base substitution C T intron_variant MELA-AU 4 54366851 54366851 single base substitution A G intron_variant MELA-AU 4 54367075 54367075 single base substitution C T intron_variant MELA-AU 4 54367181 54367181 single base substitution G A intron_variant MELA-AU 4 54367188 54367188 single base substitution C T intron_variant MELA-AU 4 54367255 54367255 single base substitution G A intron_variant MELA-AU 4 54367568 54367568 single base substitution C T intron_variant MELA-AU 4 54367582 54367582 single base substitution G A intron_variant MELA-AU 4 54367658 54367658 single base substitution C T intron_variant MELA-AU 4 54367872 54367872 single base substitution C T intron_variant MELA-AU 4 54368505 54368505 single base substitution G T intron_variant MELA-AU 4 54368802 54368802 single base substitution G A intron_variant MELA-AU 4 54368982 54368982 single base substitution C T intron_variant MELA-AU 4 54369171 54369171 single base substitution C T intron_variant MELA-AU 4 54369201 54369201 single base substitution C T intron_variant MELA-AU 4 54369231 54369231 single base substitution G A intron_variant MELA-AU 4 54369389 54369389 single base substitution C T intron_variant MELA-AU 4 54369418 54369418 single base substitution G A intron_variant MELA-AU 4 54369448 54369448 single base substitution G A intron_variant MELA-AU 4 54369931 54369931 single base substitution C T intron_variant MELA-AU 4 54369947 54369947 single base substitution C T intron_variant MELA-AU 4 54369985 54369985 single base substitution T G intron_variant MELA-AU 4 54370061 54370061 single base substitution G A intron_variant MELA-AU 4 54370098 54370098 single base substitution C T intron_variant MELA-AU 4 54370128 54370128 single base substitution C T intron_variant MELA-AU 4 54370289 54370289 single base substitution G A intron_variant MELA-AU 4 54370316 54370316 single base substitution G A intron_variant MELA-AU 4 54370346 54370346 single base substitution G A intron_variant MELA-AU 4 54370406 54370406 single base substitution C T intron_variant MELA-AU 4 54370532 54370532 single base substitution C T intron_variant MELA-AU 4 54370590 54370590 single base substitution C T intron_variant MELA-AU 4 54370872 54370872 single base substitution C T intron_variant MELA-AU 4 54370892 54370892 single base substitution C T intron_variant MELA-AU 4 54371147 54371148 multiple base substitution (>=2bp and <=200bp) CC TT intron_variant MELA-AU 4 54371378 54371378 single base substitution C T intron_variant MELA-AU 4 54371747 54371747 single base substitution G A intron_variant MELA-AU 4 54371891 54371891 single base substitution C T intron_variant MELA-AU 4 54371892 54371892 single base substitution C T intron_variant MELA-AU 4 54372599 54372599 single base substitution G A intron_variant MELA-AU 4 54372797 54372797 single base substitution G A intron_variant MELA-AU 4 54372819 54372819 single base substitution C T intron_variant MELA-AU 4 54373140 54373140 single base substitution A T intron_variant MELA-AU 4 54373213 54373213 single base substitution A T intron_variant MELA-AU 4 54373271 54373271 single base substitution C T intron_variant MELA-AU 4 54373424 54373424 single base substitution C T intron_variant MELA-AU 4 54373477 54373477 single base substitution C T splice_region_variant MELA-AU 4 54373576 54373576 single base substitution A G exon_variant MELA-AU 4 54373576 54373576 single base substitution A G missense_variant L132S 395T>C MELA-AU 4 54373576 54373576 single base substitution A G missense_variant L228S 683T>C MELA-AU 4 54373618 54373618 single base substitution G A exon_variant MELA-AU 4 54373618 54373618 single base substitution G A missense_variant S118F 353C>T MELA-AU 4 54373618 54373618 single base substitution G A missense_variant S214F 641C>T MELA-AU 4 54373687 54373687 single base substitution C T intron_variant MELA-AU 4 54374052 54374052 single base substitution C T intron_variant MELA-AU 4 54374054 54374054 single base substitution C T intron_variant MELA-AU 4 54374058 54374058 single base substitution A T intron_variant MELA-AU 4 54374505 54374505 single base substitution G A exon_variant MELA-AU 4 54374505 54374505 single base substitution G A intron_variant MELA-AU 4 54374623 54374623 single base substitution C T intron_variant MELA-AU 4 54374623 54374623 single base substitution C T upstream_gene_variant MELA-AU 4 54374836 54374836 single base substitution C T intron_variant MELA-AU 4 54374836 54374836 single base substitution C T upstream_gene_variant MELA-AU 4 54374915 54374915 single base substitution C T intron_variant MELA-AU 4 54374915 54374915 single base substitution C T upstream_gene_variant MELA-AU 4 54374939 54374939 single base substitution C T intron_variant MELA-AU 4 54374939 54374939 single base substitution C T upstream_gene_variant MELA-AU 4 54374947 54374947 single base substitution T G intron_variant MELA-AU 4 54374947 54374947 single base substitution T G upstream_gene_variant MELA-AU 4 54375028 54375028 single base substitution C T intron_variant MELA-AU 4 54375028 54375028 single base substitution C T upstream_gene_variant MELA-AU 4 54375373 54375373 single base substitution C T intron_variant MELA-AU 4 54375373 54375373 single base substitution C T upstream_gene_variant MELA-AU 4 54375591 54375591 single base substitution G A intron_variant MELA-AU 4 54375591 54375591 single base substitution G A upstream_gene_variant MELA-AU 4 54375760 54375760 single base substitution G A intron_variant MELA-AU 4 54375760 54375760 single base substitution G A upstream_gene_variant MELA-AU 4 54375956 54375956 single base substitution G A intron_variant MELA-AU 4 54375956 54375956 single base substitution G A upstream_gene_variant MELA-AU 4 54376057 54376057 single base substitution T C intron_variant MELA-AU 4 54376057 54376057 single base substitution T C upstream_gene_variant MELA-AU 4 54376216 54376216 single base substitution T C intron_variant MELA-AU 4 54376216 54376216 single base substitution T C upstream_gene_variant MELA-AU 4 54376371 54376371 single base substitution C T intron_variant MELA-AU 4 54376371 54376371 single base substitution C T upstream_gene_variant MELA-AU 4 54376507 54376507 single base substitution C T intron_variant MELA-AU 4 54376507 54376507 single base substitution C T upstream_gene_variant MELA-AU 4 54376538 54376538 single base substitution G A intron_variant MELA-AU 4 54376538 54376538 single base substitution G A upstream_gene_variant MELA-AU 4 54376649 54376649 single base substitution G A intron_variant MELA-AU 4 54376649 54376649 single base substitution G A upstream_gene_variant MELA-AU 4 54376790 54376790 single base substitution G A intron_variant MELA-AU 4 54376790 54376790 single base substitution G A upstream_gene_variant MELA-AU 4 54376915 54376915 single base substitution G A intron_variant MELA-AU 4 54376915 54376915 single base substitution G A upstream_gene_variant MELA-AU 4 54377048 54377048 single base substitution C T intron_variant MELA-AU 4 54377048 54377048 single base substitution C T upstream_gene_variant MELA-AU 4 54377195 54377195 single base substitution G A intron_variant MELA-AU 4 54377195 54377195 single base substitution G A upstream_gene_variant MELA-AU 4 54377236 54377236 single base substitution G A intron_variant MELA-AU 4 54377236 54377236 single base substitution G A upstream_gene_variant MELA-AU 4 54377455 54377455 single base substitution A G intron_variant MELA-AU 4 54377455 54377455 single base substitution A G upstream_gene_variant MELA-AU 4 54377659 54377659 single base substitution G A intron_variant MELA-AU 4 54377659 54377659 single base substitution G A upstream_gene_variant MELA-AU 4 54377762 54377762 single base substitution C T intron_variant MELA-AU 4 54377762 54377762 single base substitution C T upstream_gene_variant MELA-AU 4 54378005 54378005 single base substitution G A intron_variant MELA-AU 4 54378005 54378005 single base substitution G A upstream_gene_variant MELA-AU 4 54378058 54378058 single base substitution A T intron_variant MELA-AU 4 54378058 54378058 single base substitution A T upstream_gene_variant MELA-AU 4 54379068 54379068 single base substitution G A intron_variant MELA-AU 4 54379068 54379068 single base substitution G A upstream_gene_variant MELA-AU 4 54379273 54379273 single base substitution T A intron_variant MELA-AU 4 54379273 54379273 single base substitution T A upstream_gene_variant MELA-AU 4 54379310 54379310 single base substitution C T intron_variant MELA-AU 4 54379310 54379310 single base substitution C T upstream_gene_variant MELA-AU 4 54379346 54379346 single base substitution G A intron_variant MELA-AU 4 54379346 54379346 single base substitution G A upstream_gene_variant MELA-AU 4 54379446 54379446 single base substitution G A intron_variant MELA-AU 4 54379446 54379446 single base substitution G A upstream_gene_variant MELA-AU 4 54379468 54379468 single base substitution C T intron_variant MELA-AU 4 54379468 54379468 single base substitution C T upstream_gene_variant MELA-AU 4 54379588 54379588 single base substitution C T intron_variant MELA-AU 4 54379620 54379620 single base substitution C T intron_variant MELA-AU 4 54379720 54379720 single base substitution C T intron_variant MELA-AU 4 54379996 54379996 single base substitution C T intron_variant MELA-AU 4 54380001 54380001 single base substitution C T intron_variant MELA-AU 4 54380054 54380054 single base substitution G A intron_variant MELA-AU 4 54380148 54380148 single base substitution C T intron_variant MELA-AU 4 54380215 54380215 single base substitution C T intron_variant MELA-AU 4 54380261 54380262 multiple base substitution (>=2bp and <=200bp) CC TT intron_variant MELA-AU 4 54380329 54380329 single base substitution C T intron_variant MELA-AU 4 54380349 54380349 single base substitution C T intron_variant MELA-AU 4 54380484 54380484 single base substitution G A intron_variant MELA-AU 4 54380574 54380574 single base substitution C T intron_variant MELA-AU 4 54380747 54380747 single base substitution G A intron_variant MELA-AU 4 54380881 54380881 single base substitution C T intron_variant MELA-AU 4 54381431 54381431 single base substitution T C intron_variant MELA-AU 4 54381869 54381869 single base substitution C T intron_variant MELA-AU 4 54381910 54381910 single base substitution G A intron_variant MELA-AU 4 54382166 54382166 single base substitution C T intron_variant MELA-AU 4 54382210 54382210 single base substitution G A intron_variant MELA-AU 4 54382280 54382280 single base substitution A C intron_variant MELA-AU 4 54382424 54382424 single base substitution G A intron_variant MELA-AU 4 54382618 54382618 single base substitution G A intron_variant MELA-AU 4 54383416 54383416 single base substitution G A intron_variant MELA-AU 4 54383436 54383436 single base substitution T C intron_variant MELA-AU 4 54383507 54383507 single base substitution C T intron_variant MELA-AU 4 54383580 54383580 single base substitution C T intron_variant MELA-AU 4 54384104 54384104 single base substitution G A intron_variant MELA-AU 4 54384144 54384144 single base substitution C T intron_variant MELA-AU 4 54384189 54384189 single base substitution C T intron_variant MELA-AU 4 54384335 54384335 single base substitution G A intron_variant MELA-AU 4 54384388 54384388 single base substitution C T intron_variant MELA-AU 4 54384579 54384579 single base substitution C T intron_variant MELA-AU 4 54384594 54384594 single base substitution C T intron_variant MELA-AU 4 54384736 54384736 single base substitution C T intron_variant MELA-AU 4 54384765 54384765 single base substitution C T intron_variant MELA-AU 4 54385019 54385019 single base substitution C T intron_variant MELA-AU 4 54385077 54385077 single base substitution G C intron_variant MELA-AU 4 54385138 54385138 single base substitution G A intron_variant MELA-AU 4 54385185 54385185 single base substitution C T intron_variant MELA-AU 4 54385230 54385230 single base substitution G A intron_variant MELA-AU 4 54385273 54385273 single base substitution C T intron_variant MELA-AU 4 54385946 54385946 single base substitution G A intron_variant MELA-AU 4 54385974 54385974 single base substitution G A intron_variant MELA-AU 4 54386274 54386274 single base substitution C T intron_variant MELA-AU 4 54386438 54386438 single base substitution G C intron_variant MELA-AU 4 54386494 54386494 single base substitution C T intron_variant MELA-AU 4 54386619 54386619 single base substitution C T intron_variant MELA-AU 4 54386631 54386631 single base substitution C T intron_variant MELA-AU 4 54386947 54386947 single base substitution G A intron_variant MELA-AU 4 54387167 54387167 single base substitution T A intron_variant MELA-AU 4 54387270 54387270 single base substitution G A intron_variant MELA-AU 4 54387474 54387474 single base substitution G A intron_variant MELA-AU 4 54387497 54387497 single base substitution C T intron_variant MELA-AU 4 54387522 54387522 single base substitution C T intron_variant MELA-AU 4 54387530 54387530 single base substitution C T intron_variant MELA-AU 4 54387544 54387544 single base substitution C T intron_variant MELA-AU 4 54387669 54387670 multiple base substitution (>=2bp and <=200bp) GG AA intron_variant MELA-AU 4 54388354 54388354 single base substitution C T intron_variant MELA-AU 4 54388562 54388562 single base substitution C T intron_variant MELA-AU 4 54388743 54388743 single base substitution C T intron_variant MELA-AU 4 54388758 54388758 single base substitution C T intron_variant MELA-AU 4 54388775 54388775 single base substitution C T intron_variant MELA-AU 4 54388849 54388849 single base substitution G A intron_variant MELA-AU 4 54389014 54389014 single base substitution C T intron_variant MELA-AU 4 54389188 54389188 single base substitution A G intron_variant MELA-AU 4 54389219 54389219 single base substitution G A intron_variant MELA-AU 4 54389336 54389336 single base substitution G A intron_variant MELA-AU 4 54389388 54389388 single base substitution T G intron_variant MELA-AU 4 54389570 54389570 single base substitution C T intron_variant MELA-AU 4 54389697 54389697 single base substitution C T intron_variant MELA-AU 4 54389922 54389922 single base substitution C A intron_variant MELA-AU 4 54389922 54389922 single base substitution C T intron_variant MELA-AU 4 54390217 54390217 single base substitution C T intron_variant MELA-AU 4 54390321 54390321 single base substitution G A intron_variant MELA-AU 4 54390345 54390345 single base substitution C T intron_variant MELA-AU 4 54390476 54390476 single base substitution G A intron_variant MELA-AU 4 54390710 54390710 single base substitution C T intron_variant MELA-AU 4 54390749 54390749 single base substitution G A intron_variant MELA-AU 4 54390874 54390874 single base substitution G A intron_variant MELA-AU 4 54391009 54391009 single base substitution G A intron_variant MELA-AU 4 54391083 54391083 single base substitution G A intron_variant MELA-AU 4 54391698 54391698 single base substitution C A intron_variant MELA-AU 4 54391899 54391899 single base substitution G A intron_variant MELA-AU 4 54392031 54392031 single base substitution G A intron_variant MELA-AU 4 54392090 54392090 single base substitution C T intron_variant MELA-AU 4 54392146 54392146 single base substitution C T intron_variant MELA-AU 4 54392237 54392237 single base substitution G A intron_variant MELA-AU 4 54392656 54392656 single base substitution G A intron_variant MELA-AU 4 54392664 54392664 single base substitution G A intron_variant MELA-AU 4 54392891 54392891 single base substitution C T intron_variant MELA-AU 4 54392939 54392939 single base substitution A G intron_variant MELA-AU 4 54393463 54393463 single base substitution G A intron_variant MELA-AU 4 54393729 54393729 single base substitution C T intron_variant MELA-AU 4 54393926 54393926 single base substitution G A intron_variant MELA-AU 4 54394033 54394033 single base substitution G A intron_variant MELA-AU 4 54394125 54394125 single base substitution C T intron_variant MELA-AU 4 54394231 54394231 single base substitution C T intron_variant MELA-AU 4 54394851 54394851 single base substitution G A intron_variant MELA-AU 4 54395474 54395474 single base substitution G A intron_variant MELA-AU 4 54395530 54395530 single base substitution C T intron_variant MELA-AU 4 54395563 54395563 single base substitution G A intron_variant MELA-AU 4 54395707 54395707 single base substitution C T intron_variant MELA-AU 4 54395799 54395799 single base substitution T C intron_variant MELA-AU 4 54396146 54396146 single base substitution G A intron_variant MELA-AU 4 54396395 54396395 single base substitution T A intron_variant MELA-AU 4 54396537 54396537 single base substitution G A intron_variant MELA-AU 4 54396540 54396540 single base substitution G A intron_variant MELA-AU 4 54396751 54396751 single base substitution G T intron_variant MELA-AU 4 54397008 54397008 single base substitution G A intron_variant MELA-AU 4 54397181 54397181 single base substitution A T intron_variant MELA-AU 4 54397611 54397611 single base substitution C T intron_variant MELA-AU 4 54397629 54397629 single base substitution C T intron_variant MELA-AU 4 54397726 54397726 single base substitution G A intron_variant MELA-AU 4 54397757 54397757 single base substitution C T intron_variant MELA-AU 4 54397814 54397814 single base substitution A T intron_variant MELA-AU 4 54398005 54398006 multiple base substitution (>=2bp and <=200bp) GG AA intron_variant MELA-AU 4 54398018 54398018 single base substitution C T intron_variant MELA-AU 4 54398422 54398422 single base substitution C T intron_variant MELA-AU 4 54398601 54398601 single base substitution C T intron_variant MELA-AU 4 54398872 54398872 single base substitution C T intron_variant MELA-AU 4 54399129 54399129 single base substitution C T intron_variant MELA-AU 4 54399543 54399543 single base substitution C T intron_variant MELA-AU 4 54399752 54399752 single base substitution G A intron_variant MELA-AU 4 54400223 54400223 single base substitution G A intron_variant MELA-AU 4 54400587 54400587 single base substitution C T intron_variant MELA-AU 4 54400644 54400644 single base substitution G A intron_variant MELA-AU 4 54400883 54400883 single base substitution G A intron_variant MELA-AU 4 54400971 54400971 single base substitution C T intron_variant MELA-AU 4 54401201 54401201 single base substitution G A intron_variant MELA-AU 4 54401413 54401413 single base substitution A G intron_variant MELA-AU 4 54401561 54401561 single base substitution G A intron_variant MELA-AU 4 54401690 54401690 single base substitution T G intron_variant MELA-AU 4 54401840 54401840 single base substitution G A intron_variant MELA-AU 4 54402111 54402111 single base substitution G A intron_variant MELA-AU 4 54402319 54402319 single base substitution G A intron_variant MELA-AU 4 54402398 54402398 single base substitution C T intron_variant MELA-AU 4 54402422 54402422 single base substitution G A intron_variant MELA-AU 4 54402547 54402547 single base substitution C T intron_variant MELA-AU 4 54402554 54402554 single base substitution G A intron_variant MELA-AU 4 54402573 54402573 single base substitution C T intron_variant MELA-AU 4 54402823 54402823 single base substitution G A intron_variant MELA-AU 4 54403161 54403161 single base substitution G A intron_variant MELA-AU 4 54403264 54403264 single base substitution G A intron_variant MELA-AU 4 54403296 54403296 single base substitution C T intron_variant MELA-AU 4 54403422 54403422 single base substitution G A intron_variant MELA-AU 4 54403695 54403695 single base substitution G A intron_variant MELA-AU 4 54404170 54404170 single base substitution C T intron_variant MELA-AU 4 54404192 54404192 single base substitution G A intron_variant MELA-AU 4 54404266 54404266 single base substitution C T intron_variant MELA-AU 4 54404281 54404281 single base substitution G A intron_variant MELA-AU 4 54404364 54404364 single base substitution G C intron_variant MELA-AU 4 54404457 54404457 single base substitution G A intron_variant MELA-AU 4 54404591 54404591 single base substitution G A intron_variant MELA-AU 4 54404623 54404623 single base substitution G A intron_variant MELA-AU 4 54404625 54404625 single base substitution C T intron_variant MELA-AU 4 54404644 54404644 single base substitution C T intron_variant MELA-AU 4 54404998 54404998 single base substitution C T intron_variant MELA-AU 4 54405004 54405004 single base substitution G T intron_variant MELA-AU 4 54405143 54405143 single base substitution G A intron_variant MELA-AU 4 54405174 54405174 single base substitution G A intron_variant MELA-AU 4 54405253 54405253 single base substitution C T intron_variant MELA-AU 4 54405269 54405269 single base substitution C T intron_variant MELA-AU 4 54405415 54405415 single base substitution C T intron_variant MELA-AU 4 54405424 54405424 single base substitution G A intron_variant MELA-AU 4 54405454 54405454 single base substitution G A intron_variant MELA-AU 4 54406056 54406056 single base substitution C T intron_variant MELA-AU 4 54406522 54406522 single base substitution C T intron_variant MELA-AU 4 54406945 54406945 single base substitution C G intron_variant MELA-AU 4 54407028 54407028 single base substitution G A intron_variant MELA-AU 4 54407220 54407220 single base substitution C T intron_variant MELA-AU 4 54407996 54407996 single base substitution C T intron_variant MELA-AU 4 54408522 54408522 single base substitution G A intron_variant MELA-AU 4 54408550 54408550 single base substitution G A intron_variant MELA-AU 4 54408572 54408572 single base substitution C T intron_variant MELA-AU 4 54408744 54408744 single base substitution G A intron_variant MELA-AU 4 54408776 54408776 single base substitution G A intron_variant MELA-AU 4 54408790 54408790 single base substitution G A intron_variant MELA-AU 4 54408837 54408837 single base substitution A G intron_variant MELA-AU 4 54408880 54408880 single base substitution A T intron_variant MELA-AU 4 54408970 54408970 single base substitution G A intron_variant MELA-AU 4 54409017 54409017 single base substitution C T intron_variant MELA-AU 4 54409808 54409808 single base substitution G A intron_variant MELA-AU 4 54410470 54410470 single base substitution C T intron_variant MELA-AU 4 54410704 54410704 single base substitution C T intron_variant MELA-AU 4 54411048 54411048 single base substitution G A intron_variant MELA-AU 4 54411564 54411564 single base substitution C T intron_variant MELA-AU 4 54411737 54411737 single base substitution C T intron_variant MELA-AU 4 54412660 54412660 single base substitution C T intron_variant MELA-AU 4 54412702 54412702 single base substitution C T intron_variant MELA-AU 4 54412957 54412957 single base substitution G A intron_variant MELA-AU 4 54413702 54413702 single base substitution G A intron_variant MELA-AU 4 54413874 54413874 single base substitution G A intron_variant MELA-AU 4 54414068 54414068 single base substitution C T intron_variant MELA-AU 4 54414654 54414654 single base substitution G A intron_variant MELA-AU 4 54414883 54414883 single base substitution T A intron_variant MELA-AU 4 54415071 54415071 single base substitution C T intron_variant MELA-AU 4 54415132 54415132 single base substitution G A intron_variant MELA-AU 4 54415319 54415319 single base substitution C G intron_variant MELA-AU 4 54415319 54415320 multiple base substitution (>=2bp and <=200bp) CC TT intron_variant MELA-AU 4 54415359 54415359 single base substitution C T intron_variant MELA-AU 4 54415433 54415433 single base substitution C T intron_variant MELA-AU 4 54415521 54415521 single base substitution C T intron_variant MELA-AU 4 54415585 54415585 single base substitution C T intron_variant MELA-AU 4 54415613 54415613 single base substitution G A intron_variant MELA-AU 4 54415857 54415857 single base substitution G A intron_variant MELA-AU 4 54415963 54415963 single base substitution C T intron_variant MELA-AU 4 54416214 54416214 single base substitution A C intron_variant MELA-AU 4 54416348 54416348 single base substitution G A intron_variant MELA-AU 4 54416389 54416389 single base substitution G A intron_variant MELA-AU 4 54416520 54416520 single base substitution C T intron_variant MELA-AU 4 54416657 54416657 single base substitution A T intron_variant MELA-AU 4 54416772 54416772 single base substitution G A intron_variant MELA-AU 4 54416777 54416777 single base substitution G A intron_variant MELA-AU 4 54416860 54416860 single base substitution C T intron_variant MELA-AU 4 54417027 54417027 single base substitution G A intron_variant MELA-AU 4 54417144 54417144 single base substitution G A intron_variant MELA-AU 4 54417360 54417360 single base substitution C T intron_variant MELA-AU 4 54418080 54418080 single base substitution C T intron_variant MELA-AU 4 54418159 54418159 single base substitution C T intron_variant MELA-AU 4 54418186 54418186 single base substitution G A intron_variant MELA-AU 4 54418356 54418356 single base substitution C T intron_variant MELA-AU 4 54418437 54418437 single base substitution C T intron_variant MELA-AU 4 54418455 54418455 single base substitution C T intron_variant MELA-AU 4 54418538 54418538 single base substitution C T intron_variant MELA-AU 4 54418545 54418545 single base substitution G A intron_variant MELA-AU 4 54418744 54418744 single base substitution C T intron_variant MELA-AU 4 54418775 54418775 single base substitution C T intron_variant MELA-AU 4 54418903 54418903 single base substitution G A intron_variant MELA-AU 4 54418933 54418933 single base substitution T C intron_variant MELA-AU 4 54419237 54419237 single base substitution C T intron_variant MELA-AU 4 54419336 54419336 single base substitution T C intron_variant MELA-AU 4 54419769 54419769 single base substitution C T intron_variant MELA-AU 4 54420418 54420418 single base substitution C T intron_variant MELA-AU 4 54420495 54420495 single base substitution G A intron_variant MELA-AU 4 54420525 54420525 single base substitution G A intron_variant MELA-AU 4 54420926 54420926 single base substitution G A intron_variant MELA-AU 4 54421781 54421781 single base substitution C T intron_variant MELA-AU 4 54421782 54421782 single base substitution C T intron_variant MELA-AU 4 54421934 54421934 single base substitution C T intron_variant MELA-AU 4 54422161 54422161 single base substitution G A intron_variant MELA-AU 4 54422200 54422200 single base substitution C T intron_variant MELA-AU 4 54422461 54422461 single base substitution G A intron_variant MELA-AU 4 54422595 54422595 single base substitution A T intron_variant MELA-AU 4 54422598 54422598 single base substitution C T intron_variant MELA-AU 4 54422638 54422638 single base substitution G A intron_variant MELA-AU 4 54422856 54422856 single base substitution C T intron_variant MELA-AU 4 54422879 54422879 single base substitution C T intron_variant MELA-AU 4 54422900 54422900 single base substitution C T intron_variant MELA-AU 4 54423157 54423157 single base substitution G A intron_variant MELA-AU 4 54423283 54423283 single base substitution G A intron_variant MELA-AU 4 54423512 54423512 single base substitution G A intron_variant MELA-AU 4 54423745 54423745 single base substitution G A intron_variant MELA-AU 4 54423774 54423774 single base substitution G A intron_variant MELA-AU 4 54424159 54424159 single base substitution C T 5_prime_UTR_variant MELA-AU 4 54424159 54424159 single base substitution C T intron_variant MELA-AU 4 54424299 54424299 single base substitution C T 5_prime_UTR_variant MELA-AU 4 54424299 54424299 single base substitution C T intron_variant MELA-AU 4 54424451 54424451 single base substitution G A intron_variant MELA-AU 4 54424451 54424451 single base substitution G A upstream_gene_variant MELA-AU 4 54424912 54424912 single base substitution C T intron_variant MELA-AU 4 54424912 54424912 single base substitution C T upstream_gene_variant MELA-AU 4 54425037 54425037 single base substitution G A intron_variant MELA-AU 4 54425037 54425037 single base substitution G A upstream_gene_variant MELA-AU 4 54425049 54425049 single base substitution A C intron_variant MELA-AU 4 54425049 54425049 single base substitution A C upstream_gene_variant MELA-AU 4 54425796 54425796 single base substitution G A intron_variant MELA-AU 4 54425796 54425796 single base substitution G A upstream_gene_variant MELA-AU 4 54425830 54425830 single base substitution C T intron_variant MELA-AU 4 54425830 54425830 single base substitution C T upstream_gene_variant MELA-AU 4 54425928 54425928 single base substitution C T intron_variant MELA-AU 4 54425928 54425928 single base substitution C T upstream_gene_variant MELA-AU 4 54425985 54425985 single base substitution A C intron_variant MELA-AU 4 54425985 54425985 single base substitution A C upstream_gene_variant MELA-AU 4 54426311 54426311 single base substitution G A intron_variant MELA-AU 4 54426311 54426311 single base substitution G A upstream_gene_variant MELA-AU 4 54426321 54426321 single base substitution G A intron_variant MELA-AU 4 54426321 54426321 single base substitution G A upstream_gene_variant MELA-AU 4 54426478 54426478 single base substitution C T intron_variant MELA-AU 4 54426478 54426478 single base substitution C T upstream_gene_variant MELA-AU 4 54426497 54426497 single base substitution G T intron_variant MELA-AU 4 54426497 54426497 single base substitution G T upstream_gene_variant MELA-AU 4 54426702 54426702 single base substitution T G intron_variant MELA-AU 4 54426702 54426702 single base substitution T G upstream_gene_variant MELA-AU 4 54426749 54426749 single base substitution G A intron_variant MELA-AU 4 54426749 54426749 single base substitution G A upstream_gene_variant MELA-AU 4 54426913 54426913 single base substitution T A intron_variant MELA-AU 4 54426913 54426913 single base substitution T A upstream_gene_variant MELA-AU 4 54427054 54427054 single base substitution C T intron_variant MELA-AU 4 54427054 54427054 single base substitution C T upstream_gene_variant MELA-AU 4 54427195 54427195 single base substitution G A intron_variant MELA-AU 4 54427195 54427195 single base substitution G A upstream_gene_variant MELA-AU 4 54427255 54427255 single base substitution G A intron_variant MELA-AU 4 54427255 54427255 single base substitution G A upstream_gene_variant MELA-AU 4 54427293 54427293 single base substitution G A intron_variant MELA-AU 4 54427293 54427293 single base substitution G A upstream_gene_variant MELA-AU 4 54427419 54427419 single base substitution G A intron_variant MELA-AU 4 54427419 54427419 single base substitution G A upstream_gene_variant MELA-AU 4 54427530 54427530 single base substitution G A intron_variant MELA-AU 4 54427530 54427530 single base substitution G A upstream_gene_variant MELA-AU 4 54427813 54427813 single base substitution G A intron_variant MELA-AU 4 54427813 54427813 single base substitution G A upstream_gene_variant MELA-AU 4 54427957 54427957 single base substitution C T intron_variant MELA-AU 4 54427957 54427957 single base substitution C T upstream_gene_variant MELA-AU 4 54428105 54428105 single base substitution G A intron_variant MELA-AU 4 54428105 54428105 single base substitution G A upstream_gene_variant MELA-AU 4 54428596 54428596 single base substitution C T intron_variant MELA-AU 4 54428596 54428596 single base substitution C T upstream_gene_variant MELA-AU 4 54428734 54428734 single base substitution G A intron_variant MELA-AU 4 54428734 54428734 single base substitution G A upstream_gene_variant MELA-AU 4 54428837 54428837 single base substitution C T intron_variant MELA-AU 4 54428837 54428837 single base substitution C T upstream_gene_variant MELA-AU 4 54428968 54428968 single base substitution A C intron_variant MELA-AU 4 54428968 54428968 single base substitution A C upstream_gene_variant MELA-AU 4 54429112 54429112 single base substitution T C intron_variant MELA-AU 4 54429112 54429112 single base substitution T C upstream_gene_variant MELA-AU 4 54429156 54429156 single base substitution G A intron_variant MELA-AU 4 54429156 54429156 single base substitution G A upstream_gene_variant MELA-AU 4 54429648 54429648 single base substitution C T intron_variant MELA-AU 4 54429797 54429797 single base substitution G T intron_variant MELA-AU 4 54429827 54429827 single base substitution G A intron_variant MELA-AU 4 54429919 54429919 single base substitution C T intron_variant MELA-AU 4 54429970 54429970 single base substitution G A intron_variant MELA-AU 4 54430140 54430140 single base substitution G A intron_variant MELA-AU 4 54430189 54430189 single base substitution G A intron_variant MELA-AU 4 54430305 54430305 single base substitution C T intron_variant MELA-AU 4 54430384 54430384 single base substitution G A intron_variant MELA-AU 4 54430647 54430647 single base substitution A G intron_variant MELA-AU 4 54430700 54430700 single base substitution A T intron_variant MELA-AU 4 54430724 54430724 single base substitution C T intron_variant MELA-AU 4 54430768 54430768 single base substitution G A intron_variant MELA-AU 4 54430983 54430983 single base substitution G A intron_variant MELA-AU 4 54431042 54431042 single base substitution G A intron_variant MELA-AU 4 54431068 54431068 single base substitution A G intron_variant MELA-AU 4 54431103 54431103 single base substitution C T intron_variant MELA-AU 4 54431235 54431235 single base substitution G A intron_variant MELA-AU 4 54431809 54431809 single base substitution G A intron_variant MELA-AU 4 54431813 54431813 single base substitution G A intron_variant MELA-AU 4 54432041 54432041 single base substitution G A intron_variant MELA-AU 4 54432077 54432077 single base substitution G A intron_variant MELA-AU 4 54432166 54432166 single base substitution G A intron_variant MELA-AU 4 54432795 54432795 single base substitution G A intron_variant MELA-AU 4 54433155 54433155 single base substitution C T intron_variant MELA-AU 4 54433174 54433174 single base substitution G A intron_variant MELA-AU 4 54433674 54433674 single base substitution G A intron_variant MELA-AU 4 54433828 54433828 single base substitution G A intron_variant MELA-AU 4 54433869 54433869 single base substitution C T intron_variant MELA-AU 4 54433890 54433890 single base substitution G A intron_variant MELA-AU 4 54434272 54434272 single base substitution C T intron_variant MELA-AU 4 54434930 54434930 single base substitution C T downstream_gene_variant MELA-AU 4 54434930 54434930 single base substitution C T intron_variant MELA-AU 4 54435319 54435319 single base substitution G A downstream_gene_variant MELA-AU 4 54435319 54435319 single base substitution G A intron_variant MELA-AU 4 54435378 54435378 single base substitution C T downstream_gene_variant MELA-AU 4 54435378 54435378 single base substitution C T intron_variant MELA-AU 4 54436882 54436882 single base substitution C T downstream_gene_variant MELA-AU 4 54436882 54436882 single base substitution C T intron_variant MELA-AU 4 54437277 54437277 single base substitution C T downstream_gene_variant MELA-AU 4 54437277 54437277 single base substitution C T intron_variant MELA-AU 4 54437597 54437597 single base substitution G A downstream_gene_variant MELA-AU 4 54437597 54437597 single base substitution G A intron_variant MELA-AU 4 54437663 54437663 single base substitution G A downstream_gene_variant MELA-AU 4 54437663 54437663 single base substitution G A intron_variant MELA-AU 4 54437726 54437726 single base substitution G A downstream_gene_variant MELA-AU 4 54437726 54437726 single base substitution G A intron_variant MELA-AU 4 54438019 54438019 single base substitution G A downstream_gene_variant MELA-AU 4 54438019 54438019 single base substitution G A intron_variant MELA-AU 4 54438069 54438069 single base substitution C T downstream_gene_variant MELA-AU 4 54438069 54438069 single base substitution C T intron_variant MELA-AU 4 54438098 54438098 single base substitution G A downstream_gene_variant MELA-AU 4 54438098 54438098 single base substitution G A intron_variant MELA-AU 4 54438218 54438218 single base substitution A G downstream_gene_variant MELA-AU 4 54438218 54438218 single base substitution A G intron_variant MELA-AU 4 54438256 54438256 single base substitution T A downstream_gene_variant MELA-AU 4 54438256 54438256 single base substitution T A intron_variant MELA-AU 4 54438384 54438385 multiple base substitution (>=2bp and <=200bp) CC TT downstream_gene_variant MELA-AU 4 54438384 54438385 multiple base substitution (>=2bp and <=200bp) CC TT intron_variant MELA-AU 4 54438387 54438387 single base substitution G A downstream_gene_variant MELA-AU 4 54438387 54438387 single base substitution G A intron_variant MELA-AU 4 54438638 54438638 single base substitution C T downstream_gene_variant MELA-AU 4 54438638 54438638 single base substitution C T intron_variant MELA-AU 4 54439030 54439030 single base substitution G A downstream_gene_variant MELA-AU 4 54439030 54439030 single base substitution G A intron_variant MELA-AU 4 54439045 54439045 single base substitution C T downstream_gene_variant MELA-AU 4 54439045 54439045 single base substitution C T intron_variant MELA-AU 4 54439404 54439404 single base substitution G A downstream_gene_variant MELA-AU 4 54439404 54439404 single base substitution G A intron_variant MELA-AU 4 54439447 54439447 single base substitution C T downstream_gene_variant MELA-AU 4 54439447 54439447 single base substitution C T intron_variant MELA-AU 4 54439593 54439593 single base substitution C T downstream_gene_variant MELA-AU 4 54439593 54439593 single base substitution C T intron_variant MELA-AU 4 54439631 54439631 single base substitution T C downstream_gene_variant MELA-AU 4 54439631 54439631 single base substitution T C intron_variant MELA-AU 4 54439996 54439996 single base substitution G A downstream_gene_variant MELA-AU 4 54439996 54439996 single base substitution G A synonymous_variant H58H 174C>T MELA-AU 4 54440067 54440067 single base substitution C T downstream_gene_variant MELA-AU 4 54440067 54440067 single base substitution C T missense_variant V35M 103G>A MELA-AU 4 54440091 54440091 single base substitution G A downstream_gene_variant MELA-AU 4 54440091 54440091 single base substitution G A missense_variant H27Y 79C>T MELA-AU 4 54440097 54440097 single base substitution C T downstream_gene_variant MELA-AU 4 54440097 54440097 single base substitution C T missense_variant E25K 73G>A MELA-AU 4 54440500 54440500 single base substitution G A intron_variant MELA-AU 4 54440865 54440865 single base substitution C T intron_variant MELA-AU 4 54440884 54440884 single base substitution C T intron_variant MELA-AU 4 54441043 54441043 single base substitution T A intron_variant MELA-AU 4 54441065 54441065 single base substitution G A intron_variant MELA-AU 4 54441127 54441127 single base substitution C T intron_variant MELA-AU 4 54441135 54441135 single base substitution C T intron_variant MELA-AU 4 54441148 54441148 single base substitution C T intron_variant MELA-AU 4 54441151 54441151 single base substitution T A intron_variant MELA-AU 4 54441391 54441391 single base substitution C T intron_variant MELA-AU 4 54441768 54441768 single base substitution C T intron_variant MELA-AU 4 54441865 54441865 single base substitution G A intron_variant MELA-AU 4 54441955 54441955 single base substitution G A intron_variant MELA-AU 4 54442037 54442037 single base substitution A G intron_variant MELA-AU 4 54442129 54442129 single base substitution G C intron_variant MELA-AU 4 54442274 54442274 single base substitution G A intron_variant MELA-AU 4 54442392 54442392 single base substitution C T intron_variant MELA-AU 4 54442432 54442432 single base substitution G A intron_variant MELA-AU 4 54442556 54442556 single base substitution C T intron_variant MELA-AU 4 54442652 54442652 single base substitution C T intron_variant MELA-AU 4 54443635 54443635 single base substitution C T intron_variant MELA-AU 4 54443642 54443642 single base substitution C T intron_variant MELA-AU 4 54443772 54443772 single base substitution G A intron_variant MELA-AU 4 54444141 54444141 single base substitution C T intron_variant MELA-AU 4 54444359 54444359 single base substitution G A intron_variant MELA-AU 4 54444464 54444464 single base substitution C T intron_variant MELA-AU 4 54445408 54445408 single base substitution C T intron_variant MELA-AU 4 54445452 54445452 single base substitution C T intron_variant MELA-AU 4 54445495 54445495 single base substitution C T intron_variant MELA-AU 4 54445625 54445625 single base substitution C T intron_variant MELA-AU 4 54445636 54445636 single base substitution C T intron_variant MELA-AU 4 54445706 54445706 single base substitution C T intron_variant MELA-AU 4 54445782 54445782 single base substitution C T intron_variant MELA-AU 4 54445850 54445850 single base substitution G A intron_variant MELA-AU 4 54445889 54445889 single base substitution G A intron_variant MELA-AU 4 54445953 54445953 single base substitution G A intron_variant MELA-AU 4 54446039 54446039 deletion of <=200bp A - intron_variant MELA-AU 4 54446046 54446046 single base substitution C A intron_variant MELA-AU 4 54446066 54446066 single base substitution G A intron_variant MELA-AU 4 54446099 54446099 single base substitution G A intron_variant MELA-AU 4 54446140 54446140 single base substitution C T intron_variant MELA-AU 4 54446329 54446329 single base substitution G A intron_variant MELA-AU 4 54446661 54446661 single base substitution C T intron_variant MELA-AU 4 54446836 54446836 single base substitution G A intron_variant MELA-AU 4 54447214 54447214 single base substitution G A intron_variant MELA-AU 4 54447269 54447269 single base substitution A T intron_variant MELA-AU 4 54447563 54447563 single base substitution G T intron_variant MELA-AU 4 54447624 54447624 single base substitution C T intron_variant MELA-AU 4 54447697 54447697 single base substitution C T intron_variant MELA-AU 4 54447855 54447855 single base substitution G A intron_variant MELA-AU 4 54448343 54448343 single base substitution C T intron_variant MELA-AU 4 54448392 54448392 single base substitution C T intron_variant MELA-AU 4 54448567 54448567 single base substitution C T intron_variant MELA-AU 4 54448663 54448663 single base substitution G A intron_variant MELA-AU 4 54448921 54448921 single base substitution G A intron_variant MELA-AU 4 54448994 54448994 single base substitution C T intron_variant MELA-AU 4 54449169 54449169 single base substitution C T intron_variant MELA-AU 4 54449176 54449176 single base substitution C T intron_variant MELA-AU 4 54449190 54449190 single base substitution G A intron_variant MELA-AU 4 54449428 54449428 single base substitution G A intron_variant MELA-AU 4 54449464 54449464 single base substitution G A intron_variant MELA-AU 4 54449853 54449853 single base substitution G A intron_variant MELA-AU 4 54449864 54449864 single base substitution G A intron_variant MELA-AU 4 54449878 54449878 single base substitution G A intron_variant MELA-AU 4 54449929 54449929 single base substitution G A intron_variant MELA-AU 4 54449994 54449994 single base substitution C T intron_variant MELA-AU 4 54450214 54450214 single base substitution G A intron_variant MELA-AU 4 54450327 54450327 single base substitution G C intron_variant MELA-AU 4 54450362 54450362 single base substitution G A intron_variant MELA-AU 4 54450366 54450366 single base substitution G A intron_variant MELA-AU 4 54450555 54450555 single base substitution G A intron_variant MELA-AU 4 54450616 54450616 single base substitution C T intron_variant MELA-AU 4 54450696 54450696 single base substitution G A intron_variant MELA-AU 4 54450876 54450876 single base substitution G A intron_variant MELA-AU 4 54450885 54450885 single base substitution C T intron_variant MELA-AU 4 54450930 54450930 single base substitution C T intron_variant MELA-AU 4 54450943 54450943 single base substitution G A intron_variant MELA-AU 4 54451126 54451126 single base substitution G A intron_variant MELA-AU 4 54451234 54451234 single base substitution C T intron_variant MELA-AU 4 54451544 54451544 single base substitution A T intron_variant MELA-AU 4 54451665 54451665 single base substitution G A intron_variant MELA-AU 4 54451675 54451675 single base substitution G A intron_variant MELA-AU 4 54451998 54451998 single base substitution G C intron_variant MELA-AU 4 54452086 54452086 single base substitution G A intron_variant MELA-AU 4 54452117 54452117 single base substitution C T intron_variant MELA-AU 4 54452128 54452128 single base substitution C T intron_variant MELA-AU 4 54452305 54452305 single base substitution G A intron_variant MELA-AU 4 54452730 54452730 single base substitution T G intron_variant MELA-AU 4 54452762 54452762 single base substitution G A intron_variant MELA-AU 4 54452968 54452968 single base substitution C T intron_variant MELA-AU 4 54452996 54452996 single base substitution G A intron_variant MELA-AU 4 54453064 54453064 single base substitution C T intron_variant MELA-AU 4 54453295 54453295 single base substitution C T intron_variant MELA-AU 4 54453469 54453469 single base substitution C T intron_variant MELA-AU 4 54453515 54453515 single base substitution G A intron_variant MELA-AU 4 54453723 54453723 single base substitution G A intron_variant MELA-AU 4 54453790 54453790 single base substitution C T intron_variant MELA-AU 4 54453902 54453902 single base substitution G A intron_variant MELA-AU 4 54453977 54453977 single base substitution C T intron_variant MELA-AU 4 54454014 54454014 single base substitution G A intron_variant MELA-AU 4 54454128 54454128 single base substitution G A intron_variant MELA-AU 4 54454540 54454540 single base substitution C T intron_variant MELA-AU 4 54454683 54454683 single base substitution G A intron_variant MELA-AU 4 54454704 54454704 single base substitution G A intron_variant MELA-AU 4 54454723 54454723 single base substitution G A intron_variant MELA-AU 4 54454752 54454752 single base substitution C T intron_variant MELA-AU 4 54454855 54454855 single base substitution G A intron_variant MELA-AU 4 54454978 54454978 single base substitution G A intron_variant MELA-AU 4 54455161 54455161 single base substitution G A intron_variant MELA-AU 4 54455322 54455322 single base substitution C T intron_variant MELA-AU 4 54455496 54455496 single base substitution G A intron_variant MELA-AU 4 54455515 54455515 single base substitution C T intron_variant MELA-AU 4 54455636 54455636 single base substitution C T intron_variant MELA-AU 4 54455659 54455659 single base substitution C T intron_variant MELA-AU 4 54455984 54455984 single base substitution T G intron_variant MELA-AU 4 54456473 54456473 single base substitution A T intron_variant MELA-AU 4 54456771 54456771 single base substitution C T intron_variant MELA-AU 4 54456914 54456914 single base substitution C T intron_variant MELA-AU 4 54457147 54457147 single base substitution G A intron_variant MELA-AU 4 54457155 54457155 single base substitution A G intron_variant MELA-AU 4 54457498 54457498 single base substitution C T intron_variant MELA-AU 4 54457669 54457669 single base substitution C T 5_prime_UTR_variant MELA-AU 4 54457669 54457669 single base substitution C T exon_variant MELA-AU 4 54457669 54457669 single base substitution C T intron_variant MELA-AU 4 54457721 54457721 single base substitution G A 5_prime_UTR_variant MELA-AU 4 54457721 54457721 single base substitution G A intron_variant MELA-AU 4 54457744 54457744 single base substitution C T 5_prime_UTR_variant MELA-AU 4 54457744 54457744 single base substitution C T intron_variant MELA-AU 4 54457775 54457775 single base substitution G A 5_prime_UTR_variant MELA-AU 4 54457775 54457775 single base substitution G A intron_variant MELA-AU 4 54457804 54457805 multiple base substitution (>=2bp and <=200bp) CC TT intron_variant MELA-AU 4 54457804 54457805 multiple base substitution (>=2bp and <=200bp) CC TT upstream_gene_variant MELA-AU 4 54457903 54457903 single base substitution C T 5_prime_UTR_variant MELA-AU 4 54457903 54457903 single base substitution C T intron_variant MELA-AU 4 54457903 54457903 single base substitution C T upstream_gene_variant MELA-AU 4 54457981 54457981 single base substitution C T intron_variant MELA-AU 4 54457981 54457981 single base substitution C T upstream_gene_variant MELA-AU 4 54458280 54458280 single base substitution C T intron_variant MELA-AU 4 54458280 54458280 single base substitution C T upstream_gene_variant MELA-AU 4 54458426 54458426 single base substitution G A intron_variant MELA-AU 4 54458426 54458426 single base substitution G A upstream_gene_variant MELA-AU 4 54458478 54458478 single base substitution C T intron_variant MELA-AU 4 54458478 54458478 single base substitution C T upstream_gene_variant MELA-AU 4 54458713 54458713 single base substitution G A intron_variant MELA-AU 4 54458713 54458713 single base substitution G A upstream_gene_variant MELA-AU 4 54458831 54458831 single base substitution T C intron_variant MELA-AU 4 54458831 54458831 single base substitution T C upstream_gene_variant MELA-AU 4 54458913 54458913 single base substitution G A intron_variant MELA-AU 4 54458913 54458913 single base substitution G A upstream_gene_variant MELA-AU 4 54459032 54459032 single base substitution G A intron_variant MELA-AU 4 54459032 54459032 single base substitution G A upstream_gene_variant MELA-AU 4 54459102 54459102 single base substitution C T intron_variant MELA-AU 4 54459102 54459102 single base substitution C T upstream_gene_variant MELA-AU 4 54459110 54459110 single base substitution G A intron_variant MELA-AU 4 54459110 54459110 single base substitution G A upstream_gene_variant MELA-AU 4 54459280 54459280 single base substitution G A intron_variant MELA-AU 4 54459280 54459280 single base substitution G A upstream_gene_variant MELA-AU 4 54459380 54459380 single base substitution C T intron_variant MELA-AU 4 54459380 54459380 single base substitution C T upstream_gene_variant MELA-AU 4 54459409 54459409 single base substitution G A intron_variant MELA-AU 4 54459409 54459409 single base substitution G A upstream_gene_variant MELA-AU 4 54459433 54459433 single base substitution C T intron_variant MELA-AU 4 54459433 54459433 single base substitution C T upstream_gene_variant MELA-AU 4 54459502 54459502 single base substitution G A intron_variant MELA-AU 4 54459502 54459502 single base substitution G A upstream_gene_variant MELA-AU 4 54459623 54459623 single base substitution C T intron_variant MELA-AU 4 54459623 54459623 single base substitution C T upstream_gene_variant MELA-AU 4 54459637 54459637 single base substitution C T intron_variant MELA-AU 4 54459637 54459637 single base substitution C T upstream_gene_variant MELA-AU 4 54460385 54460385 single base substitution G A intron_variant MELA-AU 4 54460385 54460385 single base substitution G A upstream_gene_variant MELA-AU 4 54460691 54460691 single base substitution G C intron_variant MELA-AU 4 54460691 54460691 single base substitution G C upstream_gene_variant MELA-AU 4 54460771 54460771 single base substitution G A intron_variant MELA-AU 4 54460771 54460771 single base substitution G A upstream_gene_variant MELA-AU 4 54460772 54460772 single base substitution G A intron_variant MELA-AU 4 54460772 54460772 single base substitution G A upstream_gene_variant MELA-AU 4 54460949 54460949 single base substitution G A intron_variant MELA-AU 4 54460949 54460949 single base substitution G A upstream_gene_variant MELA-AU 4 54461117 54461117 single base substitution G A intron_variant MELA-AU 4 54461117 54461117 single base substitution G A upstream_gene_variant MELA-AU 4 54461305 54461305 single base substitution G A intron_variant MELA-AU 4 54461305 54461305 single base substitution G A upstream_gene_variant MELA-AU 4 54461670 54461670 single base substitution C T intron_variant MELA-AU 4 54461670 54461670 single base substitution C T upstream_gene_variant MELA-AU 4 54461805 54461805 single base substitution G T intron_variant MELA-AU 4 54461805 54461805 single base substitution G T upstream_gene_variant MELA-AU 4 54461832 54461832 single base substitution C T intron_variant MELA-AU 4 54461832 54461832 single base substitution C T upstream_gene_variant MELA-AU 4 54461985 54461985 single base substitution G A intron_variant MELA-AU 4 54461985 54461985 single base substitution G A upstream_gene_variant MELA-AU 4 54462315 54462315 single base substitution A C intron_variant MELA-AU 4 54462315 54462315 single base substitution A C upstream_gene_variant MELA-AU 4 54462465 54462465 single base substitution G A intron_variant MELA-AU 4 54462465 54462465 single base substitution G A upstream_gene_variant MELA-AU 4 54462805 54462805 single base substitution C T intron_variant MELA-AU 4 54462805 54462805 single base substitution C T upstream_gene_variant MELA-AU 4 54462876 54462876 single base substitution C T intron_variant MELA-AU 4 54462876 54462876 single base substitution C T upstream_gene_variant MELA-AU 4 54463045 54463045 single base substitution C T intron_variant MELA-AU 4 54463117 54463117 single base substitution C T intron_variant MELA-AU 4 54463618 54463618 single base substitution C T intron_variant MELA-AU 4 54463759 54463759 single base substitution C T intron_variant MELA-AU 4 54463998 54463998 single base substitution G A intron_variant MELA-AU 4 54464182 54464182 single base substitution A G intron_variant MELA-AU 4 54464273 54464273 single base substitution C T intron_variant MELA-AU 4 54464401 54464401 single base substitution G A intron_variant MELA-AU 4 54464503 54464503 single base substitution G A intron_variant MELA-AU 4 54464584 54464584 single base substitution G A intron_variant MELA-AU 4 54464625 54464625 single base substitution C T intron_variant MELA-AU 4 54464916 54464916 single base substitution C T intron_variant MELA-AU 4 54465211 54465211 single base substitution A G intron_variant MELA-AU 4 54465498 54465498 single base substitution G A intron_variant MELA-AU 4 54465587 54465587 single base substitution G A intron_variant MELA-AU 4 54465754 54465754 single base substitution C T intron_variant MELA-AU 4 54465977 54465977 single base substitution T A intron_variant MELA-AU 4 54466171 54466171 single base substitution C T intron_variant MELA-AU 4 54466224 54466224 single base substitution C G intron_variant MELA-AU 4 54466320 54466320 single base substitution T G intron_variant MELA-AU 4 54466420 54466420 single base substitution G A intron_variant MELA-AU 4 54466423 54466423 single base substitution T G intron_variant MELA-AU 4 54466431 54466431 single base substitution C T intron_variant MELA-AU 4 54466660 54466660 single base substitution G A intron_variant MELA-AU 4 54466790 54466790 single base substitution G A intron_variant MELA-AU 4 54466868 54466868 single base substitution G A intron_variant MELA-AU 4 54466908 54466908 single base substitution C A intron_variant MELA-AU 4 54467008 54467008 single base substitution C T intron_variant MELA-AU 4 54467040 54467040 single base substitution G A intron_variant MELA-AU 4 54467072 54467072 single base substitution C T intron_variant MELA-AU 4 54467101 54467101 single base substitution C T intron_variant MELA-AU 4 54467503 54467503 single base substitution G A intron_variant MELA-AU 4 54467555 54467555 single base substitution G A intron_variant MELA-AU 4 54467667 54467667 single base substitution C T intron_variant MELA-AU 4 54467681 54467681 single base substitution A G intron_variant MELA-AU 4 54467850 54467850 single base substitution C T intron_variant MELA-AU 4 54468064 54468064 single base substitution C T intron_variant MELA-AU 4 54468194 54468194 single base substitution G A intron_variant MELA-AU 4 54468259 54468259 single base substitution G A intron_variant MELA-AU 4 54468421 54468421 single base substitution G A intron_variant MELA-AU 4 54468450 54468450 single base substitution G A intron_variant MELA-AU 4 54468475 54468475 single base substitution G A intron_variant MELA-AU 4 54468830 54468830 single base substitution G A intron_variant MELA-AU 4 54468954 54468954 single base substitution G A intron_variant MELA-AU 4 54469036 54469036 single base substitution T G exon_variant MELA-AU 4 54469036 54469036 single base substitution T G intron_variant MELA-AU 4 54469481 54469481 single base substitution C T intron_variant MELA-AU 4 54469502 54469502 single base substitution G A intron_variant MELA-AU 4 54469510 54469510 single base substitution C T intron_variant MELA-AU 4 54469646 54469646 single base substitution G A intron_variant MELA-AU 4 54469888 54469888 single base substitution G A intron_variant MELA-AU 4 54469995 54469995 single base substitution G A intron_variant MELA-AU 4 54470240 54470240 single base substitution T C intron_variant MELA-AU 4 54470348 54470348 single base substitution C T intron_variant MELA-AU 4 54470498 54470498 single base substitution C T intron_variant MELA-AU 4 54470505 54470505 single base substitution A T intron_variant MELA-AU 4 54470703 54470703 single base substitution G A intron_variant MELA-AU 4 54470778 54470778 single base substitution G A intron_variant MELA-AU 4 54470904 54470904 single base substitution G A intron_variant MELA-AU 4 54470933 54470933 single base substitution G A intron_variant MELA-AU 4 54470971 54470971 single base substitution G A intron_variant MELA-AU 4 54471137 54471137 single base substitution A G intron_variant MELA-AU 4 54471149 54471149 single base substitution G A intron_variant MELA-AU 4 54471405 54471405 single base substitution G A intron_variant MELA-AU 4 54471602 54471602 single base substitution G A intron_variant MELA-AU 4 54471603 54471603 single base substitution G A intron_variant MELA-AU 4 54471706 54471706 single base substitution C T intron_variant MELA-AU 4 54471823 54471823 single base substitution C T intron_variant MELA-AU 4 54471824 54471824 single base substitution C T intron_variant MELA-AU 4 54471957 54471957 single base substitution A T intron_variant MELA-AU 4 54471999 54471999 single base substitution C T intron_variant MELA-AU 4 54472029 54472029 single base substitution G A intron_variant MELA-AU 4 54472105 54472105 single base substitution G A intron_variant MELA-AU 4 54472106 54472106 single base substitution G A intron_variant MELA-AU 4 54472203 54472203 single base substitution G A intron_variant MELA-AU 4 54472325 54472325 single base substitution C T intron_variant MELA-AU 4 54472372 54472372 single base substitution A T intron_variant MELA-AU 4 54472612 54472613 multiple base substitution (>=2bp and <=200bp) CC TT intron_variant MELA-AU 4 54472685 54472685 single base substitution C T intron_variant MELA-AU 4 54472690 54472690 single base substitution T A intron_variant MELA-AU 4 54472745 54472745 single base substitution A G intron_variant MELA-AU 4 54473076 54473076 single base substitution C T intron_variant MELA-AU 4 54473198 54473198 single base substitution C T intron_variant MELA-AU 4 54473303 54473303 single base substitution G A intron_variant MELA-AU 4 54473360 54473360 single base substitution G A intron_variant MELA-AU 4 54473381 54473381 single base substitution C T intron_variant MELA-AU 4 54473411 54473411 single base substitution G A intron_variant MELA-AU 4 54473460 54473460 single base substitution C T intron_variant MELA-AU 4 54473537 54473537 single base substitution G A intron_variant MELA-AU 4 54473572 54473572 single base substitution G A intron_variant MELA-AU 4 54473573 54473573 single base substitution G T intron_variant MELA-AU 4 54473581 54473581 single base substitution C A intron_variant MELA-AU 4 54473655 54473655 single base substitution C T intron_variant MELA-AU 4 54474037 54474037 single base substitution G A intron_variant MELA-AU 4 54474103 54474103 single base substitution C T intron_variant MELA-AU 4 54474151 54474151 single base substitution T C intron_variant MELA-AU 4 54474322 54474322 single base substitution G A intron_variant MELA-AU 4 54474682 54474682 single base substitution G A intron_variant MELA-AU 4 54474708 54474708 single base substitution G A intron_variant MELA-AU 4 54474719 54474719 single base substitution G A intron_variant MELA-AU 4 54474722 54474722 single base substitution G T intron_variant MELA-AU 4 54474769 54474769 single base substitution C T intron_variant MELA-AU 4 54474779 54474779 single base substitution G A intron_variant MELA-AU 4 54475005 54475005 single base substitution C T intron_variant MELA-AU 4 54475139 54475139 single base substitution G A intron_variant MELA-AU 4 54475355 54475355 single base substitution G A intron_variant MELA-AU 4 54475359 54475359 single base substitution A G intron_variant MELA-AU 4 54475455 54475455 single base substitution G A intron_variant MELA-AU 4 54475533 54475533 single base substitution G A intron_variant MELA-AU 4 54475702 54475702 single base substitution C T intron_variant MELA-AU 4 54476262 54476262 single base substitution C T intron_variant MELA-AU 4 54476577 54476577 single base substitution G A intron_variant MELA-AU 4 54476654 54476654 single base substitution C T intron_variant MELA-AU 4 54476657 54476657 single base substitution G A intron_variant MELA-AU 4 54476765 54476765 single base substitution C T intron_variant MELA-AU 4 54477210 54477210 single base substitution G A intron_variant MELA-AU 4 54477258 54477258 single base substitution C T intron_variant MELA-AU 4 54477274 54477274 single base substitution G A intron_variant MELA-AU 4 54477387 54477387 single base substitution G A intron_variant MELA-AU 4 54477919 54477919 single base substitution G A intron_variant MELA-AU 4 54478226 54478226 single base substitution G A intron_variant MELA-AU 4 54478709 54478709 single base substitution T A intron_variant MELA-AU 4 54478760 54478760 single base substitution G A intron_variant MELA-AU 4 54478784 54478784 single base substitution C T intron_variant MELA-AU 4 54478788 54478788 single base substitution A G intron_variant MELA-AU 4 54478851 54478851 single base substitution G A intron_variant MELA-AU 4 54479045 54479045 single base substitution C T intron_variant MELA-AU 4 54479259 54479259 single base substitution T A intron_variant MELA-AU 4 54479342 54479342 single base substitution G A intron_variant MELA-AU 4 54479511 54479511 single base substitution G A intron_variant MELA-AU 4 54479749 54479749 single base substitution C T intron_variant MELA-AU 4 54479789 54479789 single base substitution C T intron_variant MELA-AU 4 54479796 54479796 single base substitution G T intron_variant MELA-AU 4 54479804 54479804 single base substitution C T intron_variant MELA-AU 4 54479806 54479806 deletion of <=200bp A - intron_variant MELA-AU 4 54480282 54480282 single base substitution C T intron_variant MELA-AU 4 54480301 54480301 single base substitution C T intron_variant MELA-AU 4 54480387 54480387 single base substitution T C intron_variant MELA-AU 4 54480661 54480661 single base substitution C T intron_variant MELA-AU 4 54480678 54480678 single base substitution C T intron_variant MELA-AU 4 54480690 54480690 single base substitution G A intron_variant MELA-AU 4 54480776 54480776 single base substitution C T intron_variant MELA-AU 4 54480950 54480950 single base substitution C T intron_variant MELA-AU 4 54481129 54481129 single base substitution C T intron_variant MELA-AU 4 54481282 54481282 single base substitution G A intron_variant MELA-AU 4 54481538 54481539 multiple base substitution (>=2bp and <=200bp) GG AA intron_variant MELA-AU 4 54481569 54481569 single base substitution C T intron_variant MELA-AU 4 54481749 54481749 single base substitution G A intron_variant MELA-AU 4 54481953 54481953 single base substitution G T intron_variant MELA-AU 4 54482121 54482121 single base substitution G A intron_variant MELA-AU 4 54482434 54482434 single base substitution C T intron_variant MELA-AU 4 54482737 54482737 single base substitution T G 5_prime_UTR_variant MELA-AU 4 54482737 54482737 single base substitution T G intron_variant MELA-AU 4 54482759 54482759 single base substitution G A intron_variant MELA-AU 4 54482759 54482759 single base substitution G A splice_region_variant MELA-AU 4 54482951 54482951 single base substitution G A intron_variant MELA-AU 4 54483106 54483106 single base substitution C T intron_variant MELA-AU 4 54483153 54483153 single base substitution A G intron_variant MELA-AU 4 54483451 54483452 multiple base substitution (>=2bp and <=200bp) TC GT 5_prime_UTR_variant MELA-AU 4 54483451 54483452 multiple base substitution (>=2bp and <=200bp) TC GT intron_variant MELA-AU 4 54483453 54483453 single base substitution C T 5_prime_UTR_variant MELA-AU 4 54483453 54483453 single base substitution C T intron_variant MELA-AU 4 54483461 54483461 single base substitution C G 5_prime_UTR_variant MELA-AU 4 54483461 54483461 single base substitution C G intron_variant MELA-AU 4 54483717 54483717 single base substitution G A intron_variant MELA-AU 4 54483717 54483717 single base substitution G A upstream_gene_variant MELA-AU 4 54483853 54483853 single base substitution G T intron_variant MELA-AU 4 54483853 54483853 single base substitution G T upstream_gene_variant MELA-AU 4 54483877 54483877 single base substitution G A intron_variant MELA-AU 4 54483877 54483877 single base substitution G A upstream_gene_variant MELA-AU 4 54483897 54483897 single base substitution C T intron_variant MELA-AU 4 54483897 54483897 single base substitution C T upstream_gene_variant MELA-AU 4 54484355 54484355 single base substitution G A intron_variant MELA-AU 4 54484355 54484355 single base substitution G A upstream_gene_variant MELA-AU 4 54484361 54484361 single base substitution T C intron_variant MELA-AU 4 54484361 54484361 single base substitution T C upstream_gene_variant MELA-AU 4 54484363 54484363 single base substitution C T intron_variant MELA-AU 4 54484363 54484363 single base substitution C T upstream_gene_variant MELA-AU 4 54484498 54484498 single base substitution C T intron_variant MELA-AU 4 54484498 54484498 single base substitution C T upstream_gene_variant MELA-AU 4 54485029 54485029 single base substitution C T intron_variant MELA-AU 4 54485029 54485029 single base substitution C T upstream_gene_variant MELA-AU 4 54485250 54485250 single base substitution C T intron_variant MELA-AU 4 54485250 54485250 single base substitution C T upstream_gene_variant MELA-AU 4 54485376 54485376 single base substitution C T intron_variant MELA-AU 4 54485376 54485376 single base substitution C T upstream_gene_variant MELA-AU 4 54485452 54485452 single base substitution C T intron_variant MELA-AU 4 54485452 54485452 single base substitution C T upstream_gene_variant MELA-AU 4 54485488 54485488 single base substitution C T intron_variant MELA-AU 4 54485488 54485488 single base substitution C T upstream_gene_variant MELA-AU 4 54485497 54485497 single base substitution T C intron_variant MELA-AU 4 54485497 54485497 single base substitution T C upstream_gene_variant MELA-AU 4 54485688 54485688 single base substitution C T intron_variant MELA-AU 4 54485688 54485688 single base substitution C T upstream_gene_variant MELA-AU 4 54486069 54486069 single base substitution C T intron_variant MELA-AU 4 54486069 54486069 single base substitution C T upstream_gene_variant MELA-AU 4 54486368 54486368 single base substitution C T intron_variant MELA-AU 4 54486368 54486368 single base substitution C T upstream_gene_variant MELA-AU 4 54487042 54487042 single base substitution G A intron_variant MELA-AU 4 54487042 54487042 single base substitution G A upstream_gene_variant MELA-AU 4 54487230 54487230 single base substitution G A intron_variant MELA-AU 4 54487230 54487230 single base substitution G A upstream_gene_variant MELA-AU 4 54487230 54487231 multiple base substitution (>=2bp and <=200bp) GG AA intron_variant MELA-AU 4 54487230 54487231 multiple base substitution (>=2bp and <=200bp) GG AA upstream_gene_variant MELA-AU 4 54487386 54487386 single base substitution C T intron_variant MELA-AU 4 54487386 54487386 single base substitution C T upstream_gene_variant MELA-AU 4 54488040 54488040 single base substitution C T intron_variant MELA-AU 4 54488040 54488040 single base substitution C T upstream_gene_variant MELA-AU 4 54488070 54488070 single base substitution G A intron_variant MELA-AU 4 54488070 54488070 single base substitution G A upstream_gene_variant MELA-AU 4 54488104 54488104 single base substitution C T intron_variant MELA-AU 4 54488104 54488104 single base substitution C T upstream_gene_variant MELA-AU 4 54488309 54488309 single base substitution G A intron_variant MELA-AU 4 54488309 54488309 single base substitution G A upstream_gene_variant MELA-AU 4 54488341 54488341 single base substitution G A intron_variant MELA-AU 4 54488341 54488341 single base substitution G A upstream_gene_variant MELA-AU 4 54488394 54488394 single base substitution G A intron_variant MELA-AU 4 54488394 54488394 single base substitution G A upstream_gene_variant MELA-AU 4 54488650 54488650 single base substitution C T intron_variant MELA-AU 4 54488650 54488650 single base substitution C T upstream_gene_variant MELA-AU 4 54488754 54488754 single base substitution C T intron_variant MELA-AU 4 54489034 54489034 single base substitution G A intron_variant MELA-AU 4 54489462 54489462 single base substitution C T intron_variant MELA-AU 4 54489866 54489866 single base substitution G A intron_variant MELA-AU 4 54489868 54489868 single base substitution G A intron_variant MELA-AU 4 54489904 54489904 single base substitution C T intron_variant MELA-AU 4 54490400 54490400 single base substitution C T intron_variant MELA-AU 4 54490431 54490431 single base substitution C T intron_variant MELA-AU 4 54490494 54490494 single base substitution C T intron_variant MELA-AU 4 54490605 54490605 single base substitution G A intron_variant MELA-AU 4 54490996 54490996 single base substitution C T intron_variant MELA-AU 4 54491007 54491007 single base substitution C T intron_variant MELA-AU 4 54491657 54491657 single base substitution G A intron_variant MELA-AU 4 54491858 54491858 single base substitution C T intron_variant MELA-AU 4 54491869 54491869 single base substitution G A intron_variant MELA-AU 4 54491942 54491942 single base substitution C T intron_variant MELA-AU 4 54492253 54492253 single base substitution C T intron_variant MELA-AU 4 54492259 54492259 single base substitution G A intron_variant MELA-AU 4 54492417 54492417 single base substitution G A intron_variant MELA-AU 4 54492492 54492492 single base substitution T C intron_variant MELA-AU 4 54492934 54492934 single base substitution G A intron_variant MELA-AU 4 54493167 54493167 single base substitution C T intron_variant MELA-AU 4 54493345 54493345 single base substitution G A intron_variant MELA-AU 4 54493426 54493426 single base substitution C T intron_variant MELA-AU 4 54493568 54493568 single base substitution G A intron_variant MELA-AU 4 54493595 54493595 single base substitution C T intron_variant MELA-AU 4 54493771 54493771 single base substitution C T intron_variant MELA-AU 4 54493819 54493819 single base substitution T A intron_variant MELA-AU 4 54493872 54493872 single base substitution A G intron_variant MELA-AU 4 54494016 54494016 single base substitution C T intron_variant MELA-AU 4 54494084 54494084 single base substitution C T intron_variant MELA-AU 4 54494097 54494097 single base substitution G A intron_variant MELA-AU 4 54494165 54494165 single base substitution A C intron_variant MELA-AU 4 54494173 54494173 single base substitution G A intron_variant MELA-AU 4 54494244 54494244 single base substitution G A intron_variant MELA-AU 4 54494783 54494783 single base substitution C T intron_variant MELA-AU 4 54494806 54494806 single base substitution G A intron_variant MELA-AU 4 54494851 54494851 single base substitution A C intron_variant MELA-AU 4 54495044 54495044 single base substitution G A intron_variant MELA-AU 4 54495045 54495045 single base substitution G A intron_variant MELA-AU 4 54495143 54495143 single base substitution G A intron_variant MELA-AU 4 54495239 54495239 single base substitution C T intron_variant MELA-AU 4 54495269 54495269 single base substitution C T intron_variant MELA-AU 4 54495400 54495400 single base substitution G A intron_variant MELA-AU 4 54495430 54495430 single base substitution C T intron_variant MELA-AU 4 54495806 54495806 single base substitution G A intron_variant MELA-AU 4 54496033 54496033 single base substitution T C intron_variant MELA-AU 4 54496228 54496228 single base substitution C T intron_variant MELA-AU 4 54496247 54496247 single base substitution C T intron_variant MELA-AU 4 54496302 54496302 single base substitution C T intron_variant MELA-AU 4 54496310 54496311 multiple base substitution (>=2bp and <=200bp) CC TT intron_variant MELA-AU 4 54496488 54496488 single base substitution C T intron_variant MELA-AU 4 54496614 54496614 single base substitution G A intron_variant MELA-AU 4 54496735 54496735 single base substitution C T intron_variant MELA-AU 4 54497234 54497234 single base substitution G A intron_variant MELA-AU 4 54497397 54497397 single base substitution G A intron_variant MELA-AU 4 54497474 54497474 single base substitution T A intron_variant MELA-AU 4 54497502 54497502 single base substitution G A intron_variant MELA-AU 4 54497522 54497522 single base substitution C T intron_variant MELA-AU 4 54497644 54497644 single base substitution G T intron_variant MELA-AU 4 54497696 54497696 single base substitution C T intron_variant MELA-AU 4 54497997 54497997 single base substitution T C intron_variant MELA-AU 4 54498005 54498005 single base substitution C T intron_variant MELA-AU 4 54498091 54498091 single base substitution G A intron_variant MELA-AU 4 54498360 54498360 single base substitution C T intron_variant MELA-AU 4 54498620 54498620 single base substitution C T intron_variant MELA-AU 4 54498786 54498786 single base substitution C T intron_variant MELA-AU 4 54498808 54498808 single base substitution C T intron_variant MELA-AU 4 54498857 54498857 single base substitution T A intron_variant MELA-AU 4 54498920 54498920 single base substitution T C intron_variant MELA-AU 4 54499069 54499069 single base substitution C T intron_variant MELA-AU 4 54499186 54499186 single base substitution C T intron_variant MELA-AU 4 54499577 54499577 single base substitution G A intron_variant MELA-AU 4 54499665 54499665 single base substitution G A intron_variant MELA-AU 4 54500121 54500121 single base substitution G A intron_variant MELA-AU 4 54500460 54500460 single base substitution G A intron_variant MELA-AU 4 54500527 54500527 single base substitution C T intron_variant MELA-AU 4 54500553 54500553 single base substitution G A intron_variant MELA-AU 4 54500609 54500609 single base substitution C T intron_variant MELA-AU 4 54500610 54500610 single base substitution C T intron_variant MELA-AU 4 54500636 54500636 single base substitution C T intron_variant MELA-AU 4 54500856 54500856 single base substitution G A intron_variant MELA-AU 4 54500910 54500910 single base substitution G A intron_variant MELA-AU 4 54500962 54500962 single base substitution G C intron_variant MELA-AU 4 54500975 54500975 single base substitution C T intron_variant MELA-AU 4 54501063 54501063 single base substitution C T intron_variant MELA-AU 4 54501156 54501156 single base substitution C T intron_variant MELA-AU 4 54501297 54501297 single base substitution C T intron_variant MELA-AU 4 54501300 54501300 single base substitution C T intron_variant MELA-AU 4 54501602 54501602 single base substitution C T intron_variant MELA-AU 4 54501673 54501673 single base substitution C T intron_variant MELA-AU 4 54501820 54501820 single base substitution G A intron_variant MELA-AU 4 54501853 54501853 single base substitution T G intron_variant MELA-AU 4 54502128 54502128 single base substitution G A intron_variant MELA-AU 4 54502345 54502345 single base substitution C T intron_variant MELA-AU 4 54502423 54502423 single base substitution C T intron_variant MELA-AU 4 54502558 54502558 single base substitution G A intron_variant MELA-AU 4 54502635 54502635 single base substitution G A intron_variant MELA-AU 4 54502722 54502722 single base substitution G A intron_variant MELA-AU 4 54503289 54503289 single base substitution C T intron_variant MELA-AU 4 54503358 54503358 single base substitution C T intron_variant MELA-AU 4 54503500 54503500 single base substitution C T intron_variant MELA-AU 4 54503837 54503837 single base substitution G T intron_variant MELA-AU 4 54503948 54503948 single base substitution G A intron_variant MELA-AU 4 54504004 54504004 single base substitution G A intron_variant MELA-AU 4 54504383 54504383 single base substitution G A intron_variant MELA-AU 4 54504665 54504665 single base substitution C T intron_variant MELA-AU 4 54504787 54504787 single base substitution G A intron_variant MELA-AU 4 54505031 54505031 single base substitution G A intron_variant MELA-AU 4 54505053 54505053 single base substitution G T intron_variant MELA-AU 4 54505092 54505092 single base substitution G A intron_variant MELA-AU 4 54505275 54505275 single base substitution A G intron_variant MELA-AU 4 54505278 54505278 single base substitution G A intron_variant MELA-AU 4 54505549 54505549 single base substitution G A intron_variant MELA-AU 4 54505595 54505595 single base substitution A T intron_variant MELA-AU 4 54505666 54505666 single base substitution C T intron_variant MELA-AU 4 54505692 54505692 single base substitution G A intron_variant MELA-AU 4 54505770 54505770 single base substitution C T intron_variant MELA-AU 4 54505790 54505790 single base substitution G A intron_variant MELA-AU 4 54505828 54505828 single base substitution C T intron_variant MELA-AU 4 54506441 54506441 single base substitution G A intron_variant MELA-AU 4 54506825 54506825 single base substitution G A intron_variant MELA-AU 4 54507377 54507377 single base substitution G A intron_variant MELA-AU 4 54507408 54507409 multiple base substitution (>=2bp and <=200bp) GG AA intron_variant MELA-AU 4 54507472 54507472 single base substitution G A intron_variant MELA-AU 4 54507472 54507473 multiple base substitution (>=2bp and <=200bp) GG AA intron_variant MELA-AU 4 54507673 54507673 single base substitution G A intron_variant MELA-AU 4 54507681 54507681 single base substitution G A intron_variant MELA-AU 4 54507842 54507842 single base substitution C T intron_variant MELA-AU 4 54507931 54507931 single base substitution A C intron_variant MELA-AU 4 54507933 54507933 single base substitution G A intron_variant MELA-AU 4 54508115 54508115 single base substitution C A intron_variant MELA-AU 4 54508438 54508438 single base substitution C T intron_variant MELA-AU 4 54508751 54508751 single base substitution C T intron_variant MELA-AU 4 54508794 54508794 single base substitution G A intron_variant MELA-AU 4 54508930 54508930 single base substitution A C intron_variant MELA-AU 4 54508947 54508947 single base substitution G A intron_variant MELA-AU 4 54508981 54508981 single base substitution C T intron_variant MELA-AU 4 54508986 54508986 single base substitution C T intron_variant MELA-AU 4 54509085 54509085 single base substitution C T intron_variant MELA-AU 4 54509282 54509282 single base substitution C T intron_variant MELA-AU 4 54509409 54509409 single base substitution C T intron_variant MELA-AU 4 54509514 54509514 single base substitution C T intron_variant MELA-AU 4 54509779 54509779 single base substitution C T intron_variant MELA-AU 4 54509839 54509839 single base substitution G A intron_variant MELA-AU 4 54509932 54509932 single base substitution C T intron_variant MELA-AU 4 54510030 54510030 single base substitution G A intron_variant MELA-AU 4 54510071 54510071 single base substitution G A intron_variant MELA-AU 4 54510270 54510270 single base substitution A G intron_variant MELA-AU 4 54510360 54510360 single base substitution G A intron_variant MELA-AU 4 54510476 54510476 single base substitution G A intron_variant MELA-AU 4 54510538 54510538 single base substitution C T intron_variant MELA-AU 4 54510609 54510609 single base substitution C T intron_variant MELA-AU 4 54510981 54510981 single base substitution C T intron_variant MELA-AU 4 54511029 54511029 single base substitution G A intron_variant MELA-AU 4 54511136 54511136 single base substitution C T intron_variant MELA-AU 4 54511353 54511353 single base substitution C T intron_variant MELA-AU 4 54511371 54511371 single base substitution C T intron_variant MELA-AU 4 54511380 54511380 single base substitution G A intron_variant MELA-AU 4 54511463 54511463 single base substitution C T intron_variant MELA-AU 4 54512153 54512153 single base substitution G A intron_variant MELA-AU 4 54512254 54512254 single base substitution C T intron_variant MELA-AU 4 54512341 54512341 single base substitution T G intron_variant MELA-AU 4 54512466 54512466 single base substitution G A intron_variant MELA-AU 4 54512893 54512893 single base substitution C T intron_variant MELA-AU 4 54512985 54512985 single base substitution C T intron_variant MELA-AU 4 54513023 54513023 single base substitution C T intron_variant MELA-AU 4 54513189 54513189 single base substitution G A intron_variant MELA-AU 4 54513650 54513650 single base substitution A G intron_variant MELA-AU 4 54513969 54513969 single base substitution A G intron_variant MELA-AU 4 54514111 54514111 single base substitution C T intron_variant MELA-AU 4 54514261 54514261 single base substitution C T intron_variant MELA-AU 4 54514718 54514718 single base substitution G A intron_variant MELA-AU 4 54514965 54514965 single base substitution C T intron_variant MELA-AU 4 54514969 54514969 single base substitution C T intron_variant MELA-AU 4 54515113 54515113 single base substitution G A intron_variant MELA-AU 4 54515201 54515201 single base substitution A G intron_variant MELA-AU 4 54515797 54515797 single base substitution C T intron_variant MELA-AU 4 54515844 54515844 single base substitution C T intron_variant MELA-AU 4 54515961 54515961 single base substitution G A intron_variant MELA-AU 4 54516181 54516181 single base substitution C T intron_variant MELA-AU 4 54516250 54516250 single base substitution G A intron_variant MELA-AU 4 54516337 54516337 single base substitution C T intron_variant MELA-AU 4 54516441 54516441 single base substitution G A intron_variant MELA-AU 4 54516449 54516449 single base substitution A G intron_variant MELA-AU 4 54516636 54516636 single base substitution C T intron_variant MELA-AU 4 54516815 54516815 single base substitution C T intron_variant MELA-AU 4 54516883 54516883 single base substitution C T intron_variant MELA-AU 4 54516885 54516885 single base substitution C T intron_variant MELA-AU 4 54516969 54516969 single base substitution T C intron_variant MELA-AU 4 54517269 54517269 single base substitution C T intron_variant MELA-AU 4 54517443 54517443 single base substitution C T intron_variant MELA-AU 4 54517548 54517548 single base substitution G A intron_variant MELA-AU 4 54517661 54517661 single base substitution G A intron_variant MELA-AU 4 54517719 54517719 single base substitution G A intron_variant MELA-AU 4 54517873 54517873 single base substitution C T intron_variant MELA-AU 4 54517889 54517889 single base substitution A G intron_variant MELA-AU 4 54518095 54518095 single base substitution G A intron_variant MELA-AU 4 54518150 54518150 single base substitution C T intron_variant MELA-AU 4 54518202 54518202 single base substitution G T intron_variant MELA-AU 4 54518224 54518224 single base substitution G A intron_variant MELA-AU 4 54518388 54518388 single base substitution C A 5_prime_UTR_premature_start_codon_gain_variant MELA-AU 4 54518388 54518388 single base substitution C A exon_variant MELA-AU 4 54518388 54518388 single base substitution C A intron_variant MELA-AU 4 54518425 54518425 single base substitution C T 5_prime_UTR_variant MELA-AU 4 54518425 54518425 single base substitution C T exon_variant MELA-AU 4 54518425 54518425 single base substitution C T intron_variant MELA-AU 4 54518458 54518458 single base substitution C T 5_prime_UTR_variant MELA-AU 4 54518458 54518458 single base substitution C T exon_variant MELA-AU 4 54518458 54518458 single base substitution C T intron_variant MELA-AU 4 54518518 54518518 single base substitution C T 5_prime_UTR_variant MELA-AU 4 54518518 54518518 single base substitution C T exon_variant MELA-AU 4 54518518 54518518 single base substitution C T intron_variant MELA-AU 4 54518580 54518580 single base substitution G A 5_prime_UTR_variant MELA-AU 4 54518580 54518580 single base substitution G A exon_variant MELA-AU 4 54518580 54518580 single base substitution G A intron_variant MELA-AU 4 54518677 54518677 single base substitution C T 5_prime_UTR_variant MELA-AU 4 54518677 54518677 single base substitution C T intron_variant MELA-AU 4 54518677 54518677 single base substitution C T upstream_gene_variant MELA-AU 4 54518704 54518704 single base substitution C T intron_variant MELA-AU 4 54518704 54518704 single base substitution C T upstream_gene_variant MELA-AU 4 54518813 54518813 single base substitution G A intron_variant MELA-AU 4 54518813 54518813 single base substitution G A upstream_gene_variant MELA-AU 4 54518814 54518814 single base substitution G A intron_variant MELA-AU 4 54518814 54518814 single base substitution G A upstream_gene_variant MELA-AU 4 54519086 54519086 single base substitution G A intron_variant MELA-AU 4 54519086 54519086 single base substitution G A upstream_gene_variant MELA-AU 4 54519316 54519316 single base substitution C T intron_variant MELA-AU 4 54519316 54519316 single base substitution C T upstream_gene_variant MELA-AU 4 54519604 54519604 single base substitution C T intron_variant MELA-AU 4 54519604 54519604 single base substitution C T upstream_gene_variant MELA-AU 4 54519693 54519693 single base substitution C T intron_variant MELA-AU 4 54519693 54519693 single base substitution C T upstream_gene_variant MELA-AU 4 54519720 54519720 single base substitution C T intron_variant MELA-AU 4 54519720 54519720 single base substitution C T upstream_gene_variant MELA-AU 4 54519763 54519763 single base substitution C T intron_variant MELA-AU 4 54519763 54519763 single base substitution C T upstream_gene_variant MELA-AU 4 54520339 54520339 single base substitution C T intron_variant MELA-AU 4 54520339 54520339 single base substitution C T upstream_gene_variant MELA-AU 4 54520479 54520479 single base substitution G A intron_variant MELA-AU 4 54520479 54520479 single base substitution G A upstream_gene_variant MELA-AU 4 54520628 54520628 single base substitution C T intron_variant MELA-AU 4 54520628 54520628 single base substitution C T upstream_gene_variant MELA-AU 4 54520898 54520898 single base substitution C T intron_variant MELA-AU 4 54520898 54520898 single base substitution C T upstream_gene_variant MELA-AU 4 54521196 54521196 single base substitution G A intron_variant MELA-AU 4 54521196 54521196 single base substitution G A upstream_gene_variant MELA-AU 4 54521291 54521291 single base substitution G A intron_variant MELA-AU 4 54521291 54521291 single base substitution G A upstream_gene_variant MELA-AU 4 54521391 54521391 single base substitution G A intron_variant MELA-AU 4 54521391 54521391 single base substitution G A upstream_gene_variant MELA-AU 4 54521637 54521637 single base substitution C T intron_variant MELA-AU 4 54521637 54521637 single base substitution C T upstream_gene_variant MELA-AU 4 54521682 54521682 single base substitution C T intron_variant MELA-AU 4 54521682 54521682 single base substitution C T upstream_gene_variant MELA-AU 4 54521725 54521726 multiple base substitution (>=2bp and <=200bp) CC TT intron_variant MELA-AU 4 54521725 54521726 multiple base substitution (>=2bp and <=200bp) CC TT upstream_gene_variant MELA-AU 4 54521814 54521814 single base substitution C T intron_variant MELA-AU 4 54521814 54521814 single base substitution C T upstream_gene_variant MELA-AU 4 54522011 54522011 single base substitution C T intron_variant MELA-AU 4 54522011 54522011 single base substitution C T upstream_gene_variant MELA-AU 4 54522249 54522249 single base substitution C T intron_variant MELA-AU 4 54522249 54522249 single base substitution C T upstream_gene_variant MELA-AU 4 54522365 54522365 single base substitution C T intron_variant MELA-AU 4 54522365 54522365 single base substitution C T upstream_gene_variant MELA-AU 4 54522381 54522381 single base substitution G A intron_variant MELA-AU 4 54522381 54522381 single base substitution G A upstream_gene_variant MELA-AU 4 54522489 54522489 single base substitution C T intron_variant MELA-AU 4 54522489 54522489 single base substitution C T upstream_gene_variant MELA-AU 4 54522571 54522571 single base substitution C T intron_variant MELA-AU 4 54522571 54522571 single base substitution C T upstream_gene_variant MELA-AU 4 54522592 54522592 single base substitution C T intron_variant MELA-AU 4 54522592 54522592 single base substitution C T upstream_gene_variant MELA-AU 4 54523082 54523082 single base substitution G A intron_variant MELA-AU 4 54523082 54523082 single base substitution G A upstream_gene_variant MELA-AU 4 54523172 54523172 single base substitution C T intron_variant MELA-AU 4 54523172 54523172 single base substitution C T upstream_gene_variant MELA-AU 4 54523354 54523354 single base substitution C T intron_variant MELA-AU 4 54523354 54523354 single base substitution C T upstream_gene_variant MELA-AU 4 54523497 54523497 single base substitution C T intron_variant MELA-AU 4 54523497 54523497 single base substitution C T upstream_gene_variant MELA-AU 4 54523562 54523562 single base substitution G A intron_variant MELA-AU 4 54523562 54523562 single base substitution G A upstream_gene_variant MELA-AU 4 54523671 54523671 single base substitution C T intron_variant MELA-AU 4 54523671 54523671 single base substitution C T upstream_gene_variant MELA-AU 4 54524354 54524354 single base substitution C T intron_variant MELA-AU 4 54524374 54524374 single base substitution C T intron_variant MELA-AU 4 54524506 54524506 single base substitution A G intron_variant MELA-AU 4 54524589 54524589 single base substitution A T intron_variant MELA-AU 4 54524709 54524709 single base substitution G A intron_variant MELA-AU 4 54524847 54524847 single base substitution C T intron_variant MELA-AU 4 54524945 54524945 single base substitution C T intron_variant MELA-AU 4 54525006 54525006 single base substitution C T intron_variant MELA-AU 4 54525118 54525118 single base substitution C T intron_variant MELA-AU 4 54525126 54525126 single base substitution G A intron_variant MELA-AU 4 54525346 54525346 single base substitution G A intron_variant MELA-AU 4 54525435 54525435 single base substitution C T intron_variant MELA-AU 4 54525504 54525504 single base substitution G A intron_variant MELA-AU 4 54525839 54525839 single base substitution G A intron_variant MELA-AU 4 54526787 54526787 single base substitution G A intron_variant MELA-AU 4 54526849 54526849 single base substitution G A intron_variant MELA-AU 4 54526947 54526947 single base substitution C T intron_variant MELA-AU 4 54527032 54527032 single base substitution T A intron_variant MELA-AU 4 54527040 54527040 single base substitution G A intron_variant MELA-AU 4 54527143 54527143 single base substitution C T intron_variant MELA-AU 4 54527646 54527646 single base substitution G A intron_variant MELA-AU 4 54527861 54527861 single base substitution G A intron_variant MELA-AU 4 54527980 54527980 single base substitution C T intron_variant MELA-AU 4 54528039 54528039 single base substitution T C intron_variant MELA-AU 4 54528260 54528260 single base substitution G A intron_variant MELA-AU 4 54528280 54528280 single base substitution C T intron_variant MELA-AU 4 54528562 54528562 single base substitution G A intron_variant MELA-AU 4 54528688 54528688 single base substitution C T intron_variant MELA-AU 4 54529116 54529116 single base substitution G A intron_variant MELA-AU 4 54529151 54529151 single base substitution G A intron_variant MELA-AU 4 54529595 54529595 single base substitution G A intron_variant MELA-AU 4 54529688 54529688 single base substitution G A intron_variant MELA-AU 4 54529746 54529746 single base substitution C T intron_variant MELA-AU 4 54529934 54529934 single base substitution T A intron_variant MELA-AU 4 54530124 54530124 single base substitution C T intron_variant MELA-AU 4 54530219 54530219 single base substitution T A intron_variant MELA-AU 4 54530264 54530264 single base substitution C T intron_variant MELA-AU 4 54530278 54530278 single base substitution G C intron_variant MELA-AU 4 54530442 54530442 single base substitution T C intron_variant MELA-AU 4 54530887 54530887 single base substitution C T intron_variant MELA-AU 4 54531147 54531147 single base substitution C T intron_variant MELA-AU 4 54531393 54531393 single base substitution G A intron_variant MELA-AU 4 54531437 54531437 single base substitution G A intron_variant MELA-AU 4 54531596 54531596 single base substitution C T intron_variant MELA-AU 4 54531601 54531601 single base substitution C T intron_variant MELA-AU 4 54531748 54531748 single base substitution G A intron_variant MELA-AU 4 54531796 54531796 single base substitution G A intron_variant MELA-AU 4 54531806 54531806 single base substitution G A intron_variant MELA-AU 4 54532019 54532019 single base substitution G A intron_variant MELA-AU 4 54532025 54532025 single base substitution G A intron_variant MELA-AU 4 54532041 54532041 single base substitution C T intron_variant MELA-AU 4 54532204 54532204 single base substitution G A intron_variant MELA-AU 4 54532429 54532429 single base substitution G A intron_variant MELA-AU 4 54532635 54532635 single base substitution T A intron_variant MELA-AU 4 54532652 54532652 single base substitution G A intron_variant MELA-AU 4 54532705 54532705 single base substitution G A intron_variant MELA-AU 4 54533085 54533085 single base substitution C T intron_variant MELA-AU 4 54533189 54533189 single base substitution C T intron_variant MELA-AU 4 54533210 54533211 multiple base substitution (>=2bp and <=200bp) CC TT intron_variant MELA-AU 4 54533219 54533219 single base substitution C T intron_variant MELA-AU 4 54533349 54533349 single base substitution C T intron_variant MELA-AU 4 54533644 54533644 single base substitution G A intron_variant MELA-AU 4 54533660 54533660 single base substitution G A intron_variant MELA-AU 4 54533686 54533686 single base substitution G A intron_variant MELA-AU 4 54533689 54533689 single base substitution C T intron_variant MELA-AU 4 54533778 54533778 single base substitution C T intron_variant MELA-AU 4 54534121 54534121 single base substitution C T intron_variant MELA-AU 4 54534143 54534143 single base substitution G A intron_variant MELA-AU 4 54534164 54534165 multiple base substitution (>=2bp and <=200bp) GG AA intron_variant MELA-AU 4 54534178 54534178 single base substitution C T intron_variant MELA-AU 4 54534249 54534249 single base substitution G A intron_variant MELA-AU 4 54534269 54534269 single base substitution C T intron_variant MELA-AU 4 54534319 54534319 single base substitution G A intron_variant MELA-AU 4 54534439 54534439 single base substitution G A intron_variant MELA-AU 4 54535002 54535002 single base substitution C T intron_variant MELA-AU 4 54535062 54535062 single base substitution C T intron_variant MELA-AU 4 54535075 54535075 single base substitution A T intron_variant MELA-AU 4 54535202 54535202 single base substitution C A intron_variant MELA-AU 4 54535350 54535350 single base substitution C T intron_variant MELA-AU 4 54535370 54535370 single base substitution G A intron_variant MELA-AU 4 54535414 54535414 single base substitution C T intron_variant MELA-AU 4 54535478 54535478 single base substitution G A intron_variant MELA-AU 4 54535565 54535565 single base substitution C T intron_variant MELA-AU 4 54535595 54535595 single base substitution C T intron_variant MELA-AU 4 54535768 54535768 single base substitution G A intron_variant MELA-AU 4 54535959 54535959 single base substitution C T intron_variant MELA-AU 4 54535975 54535975 single base substitution C T intron_variant MELA-AU 4 54536013 54536013 single base substitution C T intron_variant MELA-AU 4 54536032 54536032 single base substitution G A intron_variant MELA-AU 4 54536257 54536257 single base substitution C T intron_variant MELA-AU 4 54536298 54536298 single base substitution C T intron_variant MELA-AU 4 54536356 54536356 single base substitution G A intron_variant MELA-AU 4 54536420 54536420 single base substitution T C intron_variant MELA-AU 4 54536424 54536424 single base substitution C T intron_variant MELA-AU 4 54536523 54536523 single base substitution C T intron_variant MELA-AU 4 54536678 54536678 single base substitution C T intron_variant MELA-AU 4 54536757 54536757 single base substitution C T intron_variant MELA-AU 4 54536863 54536863 single base substitution C T intron_variant MELA-AU 4 54536898 54536898 single base substitution C T intron_variant MELA-AU 4 54536930 54536930 single base substitution A T intron_variant MELA-AU 4 54537020 54537020 single base substitution C T intron_variant MELA-AU 4 54537024 54537024 single base substitution C T intron_variant MELA-AU 4 54537032 54537032 single base substitution C T intron_variant MELA-AU 4 54537066 54537066 single base substitution C T intron_variant MELA-AU 4 54537093 54537093 single base substitution C T intron_variant MELA-AU 4 54537122 54537122 single base substitution T C intron_variant MELA-AU 4 54537174 54537174 single base substitution G A intron_variant MELA-AU 4 54537487 54537487 single base substitution G A intron_variant MELA-AU 4 54537699 54537699 single base substitution A C intron_variant MELA-AU 4 54537753 54537753 single base substitution C T intron_variant MELA-AU 4 54537756 54537756 single base substitution T A intron_variant MELA-AU 4 54537775 54537775 single base substitution C T intron_variant MELA-AU 4 54537779 54537779 single base substitution G A intron_variant MELA-AU 4 54538214 54538214 single base substitution C T intron_variant MELA-AU 4 54538358 54538358 single base substitution G A intron_variant MELA-AU 4 54538410 54538410 single base substitution G A intron_variant MELA-AU 4 54538459 54538459 single base substitution C T intron_variant MELA-AU 4 54538478 54538478 single base substitution C G intron_variant MELA-AU 4 54538480 54538480 single base substitution C T intron_variant MELA-AU 4 54538601 54538601 single base substitution G A intron_variant MELA-AU 4 54538678 54538678 single base substitution C T intron_variant MELA-AU 4 54538798 54538798 single base substitution C T intron_variant MELA-AU 4 54538818 54538818 single base substitution G A intron_variant MELA-AU 4 54538950 54538950 single base substitution G A intron_variant MELA-AU 4 54539048 54539048 single base substitution A T intron_variant MELA-AU 4 54539134 54539134 single base substitution T G intron_variant MELA-AU 4 54539178 54539178 single base substitution C T intron_variant MELA-AU 4 54539626 54539626 single base substitution C T intron_variant MELA-AU 4 54539724 54539724 single base substitution A G intron_variant MELA-AU 4 54539818 54539818 single base substitution C T intron_variant MELA-AU 4 54539980 54539980 single base substitution G A intron_variant MELA-AU 4 54539981 54539981 single base substitution G A intron_variant MELA-AU 4 54540033 54540033 single base substitution C T intron_variant MELA-AU 4 54540157 54540157 single base substitution C T intron_variant MELA-AU 4 54540433 54540433 single base substitution G A intron_variant MELA-AU 4 54540747 54540747 single base substitution C T intron_variant MELA-AU 4 54540757 54540757 single base substitution C T intron_variant MELA-AU 4 54541095 54541095 single base substitution A C intron_variant MELA-AU 4 54541235 54541235 single base substitution A G intron_variant MELA-AU 4 54541700 54541700 single base substitution G A intron_variant MELA-AU 4 54541724 54541724 single base substitution T C intron_variant MELA-AU 4 54541800 54541800 single base substitution G A intron_variant MELA-AU 4 54542049 54542049 single base substitution C T intron_variant MELA-AU 4 54542523 54542523 single base substitution G A intron_variant MELA-AU 4 54542642 54542642 single base substitution C T intron_variant MELA-AU 4 54542899 54542899 single base substitution C T intron_variant MELA-AU 4 54543030 54543030 single base substitution C T intron_variant MELA-AU 4 54543222 54543222 single base substitution A C intron_variant MELA-AU 4 54543249 54543249 single base substitution G A intron_variant MELA-AU 4 54543416 54543416 single base substitution G A intron_variant MELA-AU 4 54543435 54543435 single base substitution C T intron_variant MELA-AU 4 54543458 54543458 single base substitution C T intron_variant MELA-AU 4 54543576 54543576 single base substitution C T intron_variant MELA-AU 4 54543729 54543729 single base substitution A G intron_variant MELA-AU 4 54543757 54543757 single base substitution G A intron_variant MELA-AU 4 54544128 54544128 single base substitution A C intron_variant MELA-AU 4 54544146 54544146 single base substitution C T intron_variant MELA-AU 4 54544273 54544273 single base substitution G A intron_variant MELA-AU 4 54544338 54544338 single base substitution G A intron_variant MELA-AU 4 54544357 54544357 single base substitution C T intron_variant MELA-AU 4 54544639 54544639 single base substitution G A intron_variant MELA-AU 4 54544748 54544748 single base substitution C T intron_variant MELA-AU 4 54544934 54544934 single base substitution C T intron_variant MELA-AU 4 54544977 54544977 single base substitution G A intron_variant MELA-AU 4 54545132 54545132 single base substitution C T intron_variant MELA-AU 4 54545139 54545139 single base substitution G A intron_variant MELA-AU 4 54545304 54545304 single base substitution C T intron_variant MELA-AU 4 54545512 54545512 single base substitution A T intron_variant MELA-AU 4 54545660 54545660 single base substitution G A intron_variant MELA-AU 4 54545756 54545756 single base substitution C T intron_variant MELA-AU 4 54546106 54546107 multiple base substitution (>=2bp and <=200bp) AA TT intron_variant MELA-AU 4 54546309 54546309 single base substitution C T intron_variant MELA-AU 4 54546513 54546513 single base substitution C T intron_variant MELA-AU 4 54546967 54546967 single base substitution G A intron_variant MELA-AU 4 54546987 54546987 single base substitution G A intron_variant MELA-AU 4 54547097 54547097 single base substitution C T intron_variant MELA-AU 4 54547207 54547207 single base substitution C T intron_variant MELA-AU 4 54547295 54547295 single base substitution G A intron_variant MELA-AU 4 54547699 54547700 multiple base substitution (>=2bp and <=200bp) GG AA intron_variant MELA-AU 4 54547984 54547984 single base substitution C T intron_variant MELA-AU 4 54548007 54548007 single base substitution C T intron_variant MELA-AU 4 54548102 54548102 single base substitution C T intron_variant MELA-AU 4 54548164 54548164 single base substitution C T intron_variant MELA-AU 4 54548250 54548250 single base substitution C T intron_variant MELA-AU 4 54548263 54548263 single base substitution C T intron_variant MELA-AU 4 54548426 54548426 single base substitution C T intron_variant MELA-AU 4 54548448 54548448 single base substitution G A intron_variant MELA-AU 4 54548544 54548544 single base substitution C T intron_variant MELA-AU 4 54548550 54548550 single base substitution G A intron_variant MELA-AU 4 54548605 54548605 single base substitution C T intron_variant MELA-AU 4 54548658 54548658 single base substitution G A intron_variant MELA-AU 4 54548671 54548671 single base substitution G A intron_variant MELA-AU 4 54548775 54548775 single base substitution G A intron_variant MELA-AU 4 54548814 54548814 single base substitution G A intron_variant MELA-AU 4 54548858 54548858 single base substitution A G intron_variant MELA-AU 4 54548875 54548875 single base substitution C T intron_variant MELA-AU 4 54549080 54549080 single base substitution G A intron_variant MELA-AU 4 54549111 54549111 single base substitution C T intron_variant MELA-AU 4 54549121 54549121 single base substitution G A intron_variant MELA-AU 4 54549148 54549148 single base substitution C T intron_variant MELA-AU 4 54549248 54549249 multiple base substitution (>=2bp and <=200bp) GG AA intron_variant MELA-AU 4 54549820 54549820 single base substitution G A intron_variant MELA-AU 4 54549937 54549937 single base substitution A T intron_variant MELA-AU 4 54549978 54549978 single base substitution G A intron_variant MELA-AU 4 54550355 54550355 single base substitution C T intron_variant MELA-AU 4 54550394 54550394 single base substitution C T intron_variant MELA-AU 4 54550718 54550718 single base substitution G A intron_variant MELA-AU 4 54550803 54550804 multiple base substitution (>=2bp and <=200bp) CC TT intron_variant MELA-AU 4 54550824 54550824 single base substitution C G intron_variant MELA-AU 4 54550896 54550896 single base substitution G A intron_variant MELA-AU 4 54550935 54550935 single base substitution G A intron_variant MELA-AU 4 54550962 54550962 single base substitution G A intron_variant MELA-AU 4 54551092 54551092 single base substitution G A intron_variant MELA-AU 4 54551151 54551151 single base substitution G A intron_variant MELA-AU 4 54551152 54551152 single base substitution G A intron_variant MELA-AU 4 54551333 54551333 single base substitution T C intron_variant MELA-AU 4 54552270 54552270 single base substitution G A intron_variant MELA-AU 4 54553270 54553271 multiple base substitution (>=2bp and <=200bp) CC TT intron_variant MELA-AU 4 54553271 54553271 single base substitution C T intron_variant MELA-AU 4 54553291 54553291 single base substitution A T intron_variant MELA-AU 4 54553298 54553298 single base substitution C T intron_variant MELA-AU 4 54553556 54553556 single base substitution C T intron_variant MELA-AU 4 54553855 54553855 single base substitution C T intron_variant MELA-AU 4 54553988 54553988 single base substitution G A intron_variant MELA-AU 4 54554211 54554211 single base substitution C T intron_variant MELA-AU 4 54554260 54554260 single base substitution C T intron_variant MELA-AU 4 54554291 54554291 single base substitution G A intron_variant MELA-AU 4 54554633 54554633 single base substitution C T intron_variant MELA-AU 4 54554794 54554794 single base substitution C T intron_variant MELA-AU 4 54554999 54554999 single base substitution G A intron_variant MELA-AU 4 54555012 54555012 single base substitution G A intron_variant MELA-AU 4 54555230 54555230 single base substitution G C intron_variant MELA-AU 4 54555454 54555455 multiple base substitution (>=2bp and <=200bp) GT AA intron_variant MELA-AU 4 54555615 54555615 single base substitution G A intron_variant MELA-AU 4 54556028 54556028 single base substitution A T intron_variant MELA-AU 4 54556237 54556237 single base substitution C T intron_variant MELA-AU 4 54556307 54556307 single base substitution G A intron_variant MELA-AU 4 54556335 54556335 single base substitution G C intron_variant MELA-AU 4 54556366 54556366 single base substitution C T intron_variant MELA-AU 4 54556569 54556569 single base substitution C T intron_variant MELA-AU 4 54556620 54556620 single base substitution T C intron_variant MELA-AU 4 54556962 54556962 single base substitution C T intron_variant MELA-AU 4 54556971 54556971 single base substitution C T intron_variant MELA-AU 4 54557011 54557011 single base substitution C T intron_variant MELA-AU 4 54557022 54557022 single base substitution G A intron_variant MELA-AU 4 54557276 54557276 single base substitution G A intron_variant MELA-AU 4 54557331 54557331 single base substitution G A intron_variant MELA-AU 4 54557507 54557507 single base substitution C T intron_variant MELA-AU 4 54557708 54557708 single base substitution C T intron_variant MELA-AU 4 54558140 54558140 single base substitution C T intron_variant MELA-AU 4 54558686 54558686 single base substitution G A intron_variant MELA-AU 4 54558814 54558814 single base substitution G A intron_variant MELA-AU 4 54558819 54558819 single base substitution C T intron_variant MELA-AU 4 54558974 54558974 single base substitution T C intron_variant MELA-AU 4 54559083 54559083 single base substitution G A intron_variant MELA-AU 4 54559240 54559240 single base substitution C T intron_variant MELA-AU 4 54559372 54559372 single base substitution G A intron_variant MELA-AU 4 54559378 54559378 single base substitution G A intron_variant MELA-AU 4 54559462 54559462 single base substitution G A intron_variant MELA-AU 4 54559967 54559967 single base substitution G A intron_variant MELA-AU 4 54559990 54559990 single base substitution G A intron_variant MELA-AU 4 54560876 54560876 single base substitution C T intron_variant MELA-AU 4 54561090 54561090 single base substitution G A intron_variant MELA-AU 4 54561350 54561350 single base substitution A T intron_variant MELA-AU 4 54561407 54561407 single base substitution C T intron_variant MELA-AU 4 54561554 54561554 single base substitution G A intron_variant MELA-AU 4 54561660 54561660 single base substitution C T intron_variant MELA-AU 4 54561667 54561667 single base substitution C T intron_variant MELA-AU 4 54562297 54562297 single base substitution C T 5_prime_UTR_variant MELA-AU 4 54562399 54562399 single base substitution A C intron_variant MELA-AU 4 54562574 54562574 single base substitution G A intron_variant MELA-AU 4 54562889 54562889 single base substitution C T intron_variant MELA-AU 4 54563058 54563058 single base substitution C T intron_variant MELA-AU 4 54563639 54563639 single base substitution C T intron_variant MELA-AU 4 54563711 54563711 single base substitution T G intron_variant MELA-AU 4 54563785 54563785 single base substitution C T intron_variant MELA-AU 4 54563827 54563827 single base substitution G A intron_variant MELA-AU 4 54563996 54563996 single base substitution T C intron_variant MELA-AU 4 54564263 54564263 single base substitution G A intron_variant MELA-AU 4 54564652 54564652 single base substitution G A intron_variant MELA-AU 4 54564742 54564742 single base substitution C T intron_variant MELA-AU 4 54564899 54564899 single base substitution T C intron_variant MELA-AU 4 54564986 54564986 single base substitution C T intron_variant MELA-AU 4 54565032 54565032 single base substitution C T intron_variant MELA-AU 4 54565539 54565539 single base substitution C T intron_variant MELA-AU 4 54565625 54565626 multiple base substitution (>=2bp and <=200bp) GG AA intron_variant MELA-AU 4 54565767 54565767 single base substitution G A intron_variant MELA-AU 4 54565908 54565908 single base substitution C T intron_variant MELA-AU 4 54566208 54566208 single base substitution G A intron_variant MELA-AU 4 54566656 54566656 single base substitution C T intron_variant MELA-AU 4 54566679 54566679 single base substitution C T intron_variant MELA-AU 4 54566806 54566806 single base substitution T A intron_variant MELA-AU 4 54566809 54566809 single base substitution C T intron_variant MELA-AU 4 54566895 54566895 single base substitution G A intron_variant MELA-AU 4 54567025 54567025 single base substitution C T intron_variant MELA-AU 4 54567478 54567478 single base substitution C T intron_variant MELA-AU 4 54567846 54567846 single base substitution G A upstream_gene_variant MELA-AU 4 54568039 54568039 single base substitution C T upstream_gene_variant MELA-AU 4 54568407 54568407 single base substitution G A upstream_gene_variant MELA-AU 4 54568441 54568441 single base substitution T C upstream_gene_variant MELA-AU 4 54568959 54568959 single base substitution C T upstream_gene_variant MELA-AU 4 54570022 54570022 single base substitution G T upstream_gene_variant MELA-AU 4 54570492 54570492 single base substitution C T upstream_gene_variant MELA-AU 4 54570521 54570522 multiple base substitution (>=2bp and <=200bp) CC TT upstream_gene_variant MELA-AU 4 54570673 54570673 single base substitution G A upstream_gene_variant MELA-AU 4 54570739 54570739 single base substitution T G upstream_gene_variant MELA-AU 4 54570869 54570869 single base substitution C T upstream_gene_variant MELA-AU 4 54570966 54570966 single base substitution G A upstream_gene_variant MELA-AU 4 54571043 54571043 single base substitution G C upstream_gene_variant MELA-AU 4 54571245 54571245 single base substitution C T upstream_gene_variant MELA-AU 4 54571788 54571788 single base substitution C T upstream_gene_variant MELA-AU 4 54571987 54571987 single base substitution G A upstream_gene_variant MELA-AU 4 54572059 54572059 single base substitution G A upstream_gene_variant MELA-AU 4 54572139 54572139 single base substitution G A upstream_gene_variant MELA-AU 4 54572473 54572473 single base substitution C T upstream_gene_variant MELA-AU 4 54572482 54572482 single base substitution C T upstream_gene_variant ORCA-IN 4 54362594 54362594 single base substitution T C downstream_gene_variant ORCA-IN 4 54362594 54362594 single base substitution T C intron_variant ORCA-IN 4 54364928 54364928 single base substitution G C downstream_gene_variant ORCA-IN 4 54364928 54364928 single base substitution G C synonymous_variant L190L 570C>G ORCA-IN 4 54364928 54364928 single base substitution G C synonymous_variant L286L 858C>G ORCA-IN 4 54378681 54378681 single base substitution G A intron_variant ORCA-IN 4 54378681 54378681 single base substitution G A upstream_gene_variant ORCA-IN 4 54410862 54410862 single base substitution G A intron_variant ORCA-IN 4 54419408 54419408 single base substitution G C intron_variant ORCA-IN 4 54439854 54439854 single base substitution G T downstream_gene_variant ORCA-IN 4 54439854 54439854 single base substitution G T missense_variant P106T 316C>A ORCA-IN 4 54450136 54450136 single base substitution A G intron_variant ORCA-IN 4 54469261 54469261 single base substitution C T intron_variant ORCA-IN 4 54479558 54479558 single base substitution G A intron_variant ORCA-IN 4 54481889 54481889 single base substitution T A intron_variant ORCA-IN 4 54486625 54486625 single base substitution A C intron_variant ORCA-IN 4 54486625 54486625 single base substitution A C upstream_gene_variant ORCA-IN 4 54512733 54512733 single base substitution G C intron_variant ORCA-IN 4 54512974 54512974 single base substitution G C intron_variant ORCA-IN 4 54533189 54533189 single base substitution C G intron_variant ORCA-IN 4 54535643 54535643 single base substitution C G intron_variant ORCA-IN 4 54567434 54567434 single base substitution G A intron_variant ORCA-IN 4 54571677 54571677 single base substitution C G upstream_gene_variant OV-AU 4 54328098 54328098 single base substitution G A intron_variant OV-AU 4 54331057 54331057 single base substitution C A intron_variant OV-AU 4 54332177 54332177 single base substitution G A intron_variant OV-AU 4 54332706 54332706 single base substitution C T intron_variant OV-AU 4 54346131 54346131 single base substitution C T intron_variant OV-AU 4 54347655 54347655 single base substitution C T intron_variant OV-AU 4 54367010 54367010 single base substitution A G intron_variant OV-AU 4 54368181 54368181 single base substitution A G intron_variant OV-AU 4 54368277 54368277 single base substitution G C intron_variant OV-AU 4 54368963 54368963 single base substitution T G intron_variant OV-AU 4 54374083 54374083 single base substitution A T intron_variant OV-AU 4 54387072 54387072 single base substitution T G intron_variant OV-AU 4 54390831 54390831 single base substitution A C intron_variant OV-AU 4 54394486 54394486 single base substitution T G intron_variant OV-AU 4 54395837 54395837 single base substitution G A intron_variant OV-AU 4 54400100 54400100 single base substitution A G intron_variant OV-AU 4 54402091 54402091 single base substitution G T intron_variant OV-AU 4 54406112 54406112 single base substitution C A intron_variant OV-AU 4 54407233 54407233 single base substitution G C intron_variant OV-AU 4 54409560 54409560 single base substitution G T intron_variant OV-AU 4 54410342 54410342 single base substitution G A intron_variant OV-AU 4 54418290 54418290 single base substitution C T intron_variant OV-AU 4 54419061 54419061 single base substitution C A intron_variant OV-AU 4 54419415 54419415 single base substitution T C intron_variant OV-AU 4 54426373 54426373 single base substitution G T intron_variant OV-AU 4 54426373 54426373 single base substitution G T upstream_gene_variant OV-AU 4 54428950 54428950 single base substitution T C intron_variant OV-AU 4 54428950 54428950 single base substitution T C upstream_gene_variant OV-AU 4 54433610 54433610 single base substitution C T intron_variant OV-AU 4 54440377 54440377 single base substitution T C intron_variant OV-AU 4 54451534 54451534 single base substitution G A intron_variant OV-AU 4 54452306 54452306 single base substitution A G intron_variant OV-AU 4 54460618 54460618 single base substitution A G intron_variant OV-AU 4 54460618 54460618 single base substitution A G upstream_gene_variant OV-AU 4 54463803 54463803 single base substitution T C intron_variant OV-AU 4 54467571 54467571 single base substitution T A intron_variant OV-AU 4 54473909 54473909 single base substitution C T intron_variant OV-AU 4 54474314 54474314 single base substitution C T intron_variant OV-AU 4 54474848 54474848 single base substitution T C intron_variant OV-AU 4 54475887 54475887 single base substitution G T intron_variant OV-AU 4 54485025 54485025 single base substitution A G intron_variant OV-AU 4 54485025 54485025 single base substitution A G upstream_gene_variant OV-AU 4 54485474 54485474 single base substitution C T intron_variant OV-AU 4 54485474 54485474 single base substitution C T upstream_gene_variant OV-AU 4 54487989 54487989 single base substitution C A intron_variant OV-AU 4 54487989 54487989 single base substitution C A upstream_gene_variant OV-AU 4 54488359 54488359 single base substitution C G intron_variant OV-AU 4 54488359 54488359 single base substitution C G upstream_gene_variant OV-AU 4 54492318 54492318 single base substitution C T intron_variant OV-AU 4 54492958 54492958 single base substitution G T intron_variant OV-AU 4 54496599 54496599 single base substitution T C intron_variant OV-AU 4 54501892 54501892 single base substitution G A intron_variant OV-AU 4 54507592 54507592 single base substitution T A intron_variant OV-AU 4 54510674 54510674 single base substitution G A intron_variant OV-AU 4 54512022 54512022 single base substitution C G intron_variant OV-AU 4 54517912 54517912 single base substitution G T intron_variant OV-AU 4 54518536 54518536 single base substitution G T 5_prime_UTR_variant OV-AU 4 54518536 54518536 single base substitution G T exon_variant OV-AU 4 54518536 54518536 single base substitution G T intron_variant OV-AU 4 54525357 54525357 single base substitution T A intron_variant OV-AU 4 54526111 54526111 single base substitution A T intron_variant OV-AU 4 54526390 54526390 single base substitution C T intron_variant OV-AU 4 54529060 54529060 single base substitution A T intron_variant OV-AU 4 54530872 54530872 single base substitution G A intron_variant OV-AU 4 54533764 54533764 single base substitution T C intron_variant OV-AU 4 54539592 54539592 single base substitution T A intron_variant OV-AU 4 54542713 54542713 single base substitution C A intron_variant OV-AU 4 54548874 54548874 single base substitution G A intron_variant OV-AU 4 54550133 54550133 single base substitution C G intron_variant OV-AU 4 54551746 54551746 single base substitution G T intron_variant OV-AU 4 54555890 54555890 single base substitution C T intron_variant OV-AU 4 54557706 54557706 single base substitution C A intron_variant OV-AU 4 54558895 54558895 single base substitution G A intron_variant OV-AU 4 54560830 54560830 single base substitution C T intron_variant OV-AU 4 54561453 54561453 single base substitution G A intron_variant OV-AU 4 54561915 54561915 single base substitution C G intron_variant OV-AU 4 54571947 54571947 single base substitution A G upstream_gene_variant OV-AU 4 54572361 54572361 single base substitution C A upstream_gene_variant PACA-AU 4 54324865 54324865 single base substitution T A downstream_gene_variant PACA-AU 4 54335172 54335172 single base substitution G A intron_variant PACA-AU 4 54338856 54338856 single base substitution A C intron_variant PACA-AU 4 54343061 54343061 single base substitution G A missense_variant S488L 1463C>T PACA-AU 4 54343061 54343061 single base substitution G A missense_variant S584L 1751C>T PACA-AU 4 54345805 54345808 deletion of <=200bp TCTA - intron_variant PACA-AU 4 54353522 54353522 single base substitution T G intron_variant PACA-AU 4 54354380 54354380 single base substitution G A intron_variant PACA-AU 4 54357335 54357337 deletion of <=200bp ATT - intron_variant PACA-AU 4 54358953 54358953 single base substitution C T intron_variant PACA-AU 4 54365637 54365637 single base substitution C T intron_variant PACA-AU 4 54368968 54368968 single base substitution G A intron_variant PACA-AU 4 54372266 54372266 single base substitution A C intron_variant PACA-AU 4 54382844 54382844 single base substitution A G intron_variant PACA-AU 4 54384383 54384383 single base substitution C T intron_variant PACA-AU 4 54384825 54384825 single base substitution G C intron_variant PACA-AU 4 54393121 54393127 deletion of <=200bp AAGCAAT - intron_variant PACA-AU 4 54403368 54403368 single base substitution T C intron_variant PACA-AU 4 54406875 54406875 single base substitution A C intron_variant PACA-AU 4 54407252 54407252 single base substitution C T intron_variant PACA-AU 4 54408726 54408726 single base substitution T C intron_variant PACA-AU 4 54411729 54411729 single base substitution T C intron_variant PACA-AU 4 54411892 54411892 single base substitution A G intron_variant PACA-AU 4 54414890 54414890 single base substitution G A intron_variant PACA-AU 4 54415597 54415597 single base substitution C T intron_variant PACA-AU 4 54415599 54415599 single base substitution G A intron_variant PACA-AU 4 54421143 54421143 single base substitution G C intron_variant PACA-AU 4 54424196 54424196 single base substitution C T 5_prime_UTR_variant PACA-AU 4 54424196 54424196 single base substitution C T intron_variant PACA-AU 4 54427530 54427530 single base substitution G T intron_variant PACA-AU 4 54427530 54427530 single base substitution G T upstream_gene_variant PACA-AU 4 54439506 54439506 insertion of <=200bp - A downstream_gene_variant PACA-AU 4 54439506 54439506 insertion of <=200bp - A intron_variant PACA-AU 4 54441171 54441171 single base substitution C A intron_variant PACA-AU 4 54442462 54442462 single base substitution G A intron_variant PACA-AU 4 54447324 54447324 single base substitution G A intron_variant PACA-AU 4 54456908 54456908 single base substitution C A intron_variant PACA-AU 4 54463144 54463144 single base substitution G C intron_variant PACA-AU 4 54466520 54466520 single base substitution G C intron_variant PACA-AU 4 54467603 54467603 single base substitution C T intron_variant PACA-AU 4 54470963 54470963 single base substitution G T intron_variant PACA-AU 4 54472340 54472340 single base substitution G C intron_variant PACA-AU 4 54472950 54472950 single base substitution G A intron_variant PACA-AU 4 54482081 54482081 single base substitution T C intron_variant PACA-AU 4 54486045 54486045 single base substitution A G intron_variant PACA-AU 4 54486045 54486045 single base substitution A G upstream_gene_variant PACA-AU 4 54488975 54488975 single base substitution C A intron_variant PACA-AU 4 54495842 54495842 single base substitution A T intron_variant PACA-AU 4 54495929 54495929 single base substitution A T intron_variant PACA-AU 4 54503978 54503978 single base substitution G T intron_variant PACA-AU 4 54504867 54504867 single base substitution C T intron_variant PACA-AU 4 54517571 54517571 single base substitution T G intron_variant PACA-AU 4 54523559 54523559 single base substitution C T intron_variant PACA-AU 4 54523559 54523559 single base substitution C T upstream_gene_variant PACA-AU 4 54524782 54524782 single base substitution A T intron_variant PACA-AU 4 54535096 54535096 deletion of <=200bp T - intron_variant PACA-AU 4 54535456 54535456 insertion of <=200bp - G intron_variant PACA-AU 4 54535557 54535557 single base substitution G A intron_variant PACA-AU 4 54537122 54537122 single base substitution T C intron_variant PACA-AU 4 54540464 54540464 single base substitution C G intron_variant PACA-AU 4 54541232 54541232 single base substitution G A intron_variant PACA-AU 4 54547961 54547961 single base substitution G A intron_variant PACA-AU 4 54550914 54550914 single base substitution T C intron_variant PACA-AU 4 54554844 54554844 single base substitution C T intron_variant PACA-AU 4 54559187 54559187 single base substitution A G intron_variant PACA-AU 4 54561114 54561114 single base substitution A G intron_variant PACA-AU 4 54561618 54561618 single base substitution T G intron_variant PACA-AU 4 54561739 54561739 single base substitution G A intron_variant PACA-AU 4 54563028 54563028 single base substitution A T intron_variant PACA-AU 4 54569435 54569435 single base substitution C G upstream_gene_variant PACA-AU 4 54571474 54571474 single base substitution G T upstream_gene_variant PACA-AU 4 54571962 54571962 single base substitution C A upstream_gene_variant PACA-AU 4 54572549 54572549 single base substitution C T upstream_gene_variant PACA-CA 4 54320536 54320536 single base substitution G A downstream_gene_variant PACA-CA 4 54324869 54324869 single base substitution C T downstream_gene_variant PACA-CA 4 54327123 54327123 single base substitution T G missense_variant K617T 1850A>C PACA-CA 4 54327123 54327123 single base substitution T G missense_variant K713T 2138A>C PACA-CA 4 54330718 54330718 insertion of <=200bp - T intron_variant PACA-CA 4 54335094 54335094 single base substitution T C intron_variant PACA-CA 4 54336436 54336436 single base substitution A G intron_variant PACA-CA 4 54336647 54336647 single base substitution T C intron_variant PACA-CA 4 54337260 54337260 single base substitution C T intron_variant PACA-CA 4 54337373 54337373 single base substitution T C intron_variant PACA-CA 4 54340729 54340732 deletion of <=200bp AGGG - intron_variant PACA-CA 4 54347866 54347866 single base substitution G A intron_variant PACA-CA 4 54347994 54347994 single base substitution C T missense_variant V364M 1090G>A PACA-CA 4 54347994 54347994 single base substitution C T missense_variant V460M 1378G>A PACA-CA 4 54349116 54349116 single base substitution T C intron_variant PACA-CA 4 54350878 54350878 single base substitution G A intron_variant PACA-CA 4 54352375 54352375 single base substitution C G intron_variant PACA-CA 4 54353847 54353847 single base substitution G A intron_variant PACA-CA 4 54360896 54360896 single base substitution G A downstream_gene_variant PACA-CA 4 54360896 54360896 single base substitution G A intron_variant PACA-CA 4 54365921 54365945 deletion of <=200bp AGACATTGTTGTTAACAAATGGAAG - intron_variant PACA-CA 4 54368346 54368346 single base substitution G A intron_variant PACA-CA 4 54371039 54371039 single base substitution T C intron_variant PACA-CA 4 54373704 54373704 single base substitution G A intron_variant PACA-CA 4 54374043 54374043 single base substitution G A intron_variant PACA-CA 4 54374373 54374373 single base substitution G A exon_variant PACA-CA 4 54374373 54374373 single base substitution G A synonymous_variant Y134Y 402C>T PACA-CA 4 54374373 54374373 single base substitution G A synonymous_variant Y38Y 114C>T PACA-CA 4 54376330 54376330 single base substitution T C intron_variant PACA-CA 4 54376330 54376330 single base substitution T C upstream_gene_variant PACA-CA 4 54376492 54376492 single base substitution G A intron_variant PACA-CA 4 54376492 54376492 single base substitution G A upstream_gene_variant PACA-CA 4 54378117 54378117 single base substitution C A intron_variant PACA-CA 4 54378117 54378117 single base substitution C A upstream_gene_variant PACA-CA 4 54378438 54378438 single base substitution G A intron_variant PACA-CA 4 54378438 54378438 single base substitution G A upstream_gene_variant PACA-CA 4 54385786 54385786 single base substitution G C intron_variant PACA-CA 4 54394010 54394010 single base substitution A C intron_variant PACA-CA 4 54394755 54394755 single base substitution G A intron_variant PACA-CA 4 54395317 54395317 deletion of <=200bp C - intron_variant PACA-CA 4 54397168 54397168 insertion of <=200bp - A intron_variant PACA-CA 4 54399146 54399146 single base substitution A G intron_variant PACA-CA 4 54408537 54408537 single base substitution C T intron_variant PACA-CA 4 54410753 54410753 single base substitution G A intron_variant PACA-CA 4 54413936 54413936 single base substitution G A intron_variant PACA-CA 4 54414181 54414181 single base substitution A G intron_variant PACA-CA 4 54415120 54415120 single base substitution G A intron_variant PACA-CA 4 54418434 54418434 single base substitution G C intron_variant PACA-CA 4 54419344 54419344 single base substitution G A intron_variant PACA-CA 4 54424311 54424311 single base substitution A G 5_prime_UTR_variant PACA-CA 4 54424311 54424311 single base substitution A G intron_variant PACA-CA 4 54425406 54425406 single base substitution C T intron_variant PACA-CA 4 54425406 54425406 single base substitution C T upstream_gene_variant PACA-CA 4 54435008 54435008 single base substitution A G downstream_gene_variant PACA-CA 4 54435008 54435008 single base substitution A G intron_variant PACA-CA 4 54438374 54438374 single base substitution G A downstream_gene_variant PACA-CA 4 54438374 54438374 single base substitution G A intron_variant PACA-CA 4 54442333 54442333 single base substitution G C intron_variant PACA-CA 4 54447358 54447358 single base substitution C A intron_variant PACA-CA 4 54451719 54451719 single base substitution G A intron_variant PACA-CA 4 54452464 54452464 single base substitution G C intron_variant PACA-CA 4 54452975 54452975 single base substitution G A intron_variant PACA-CA 4 54457939 54457939 single base substitution C G intron_variant PACA-CA 4 54457939 54457939 single base substitution C G upstream_gene_variant PACA-CA 4 54459198 54459198 single base substitution C A intron_variant PACA-CA 4 54459198 54459198 single base substitution C A upstream_gene_variant PACA-CA 4 54459488 54459488 single base substitution C T intron_variant PACA-CA 4 54459488 54459488 single base substitution C T upstream_gene_variant PACA-CA 4 54460123 54460123 single base substitution G T intron_variant PACA-CA 4 54460123 54460123 single base substitution G T upstream_gene_variant PACA-CA 4 54460307 54460307 insertion of <=200bp - AT intron_variant PACA-CA 4 54460307 54460307 insertion of <=200bp - AT upstream_gene_variant PACA-CA 4 54460580 54460580 single base substitution C T intron_variant PACA-CA 4 54460580 54460580 single base substitution C T upstream_gene_variant PACA-CA 4 54461077 54461077 single base substitution C A intron_variant PACA-CA 4 54461077 54461077 single base substitution C A upstream_gene_variant PACA-CA 4 54461751 54461751 single base substitution T A intron_variant PACA-CA 4 54461751 54461751 single base substitution T A upstream_gene_variant PACA-CA 4 54463878 54463878 single base substitution C T intron_variant PACA-CA 4 54465127 54465130 deletion of <=200bp AATT - intron_variant PACA-CA 4 54465855 54465855 single base substitution C G intron_variant PACA-CA 4 54468644 54468644 single base substitution C T intron_variant PACA-CA 4 54471542 54471542 single base substitution C G intron_variant PACA-CA 4 54472817 54472817 insertion of <=200bp - A intron_variant PACA-CA 4 54472892 54472892 single base substitution G A intron_variant PACA-CA 4 54473644 54473644 single base substitution G A intron_variant PACA-CA 4 54475659 54475659 single base substitution G A intron_variant PACA-CA 4 54475678 54475678 single base substitution G A intron_variant PACA-CA 4 54476950 54476950 single base substitution G A intron_variant PACA-CA 4 54477005 54477005 single base substitution G A intron_variant PACA-CA 4 54477086 54477086 single base substitution G A intron_variant PACA-CA 4 54477120 54477120 single base substitution G A intron_variant PACA-CA 4 54477371 54477371 single base substitution G A intron_variant PACA-CA 4 54477733 54477733 single base substitution G A intron_variant PACA-CA 4 54481427 54481427 single base substitution C T intron_variant PACA-CA 4 54482731 54482731 single base substitution G C 5_prime_UTR_premature_start_codon_gain_variant PACA-CA 4 54482731 54482731 single base substitution G C intron_variant PACA-CA 4 54485126 54485126 single base substitution G A intron_variant PACA-CA 4 54485126 54485126 single base substitution G A upstream_gene_variant PACA-CA 4 54485808 54485808 deletion of <=200bp T - intron_variant PACA-CA 4 54485808 54485808 deletion of <=200bp T - upstream_gene_variant PACA-CA 4 54487028 54487028 single base substitution G A intron_variant PACA-CA 4 54487028 54487028 single base substitution G A upstream_gene_variant PACA-CA 4 54487792 54487792 single base substitution G C intron_variant PACA-CA 4 54487792 54487792 single base substitution G C upstream_gene_variant PACA-CA 4 54488378 54488378 single base substitution G T intron_variant PACA-CA 4 54488378 54488378 single base substitution G T upstream_gene_variant PACA-CA 4 54490342 54490342 single base substitution C G intron_variant PACA-CA 4 54493741 54493741 single base substitution G T intron_variant PACA-CA 4 54495480 54495480 single base substitution A G intron_variant PACA-CA 4 54501873 54501873 single base substitution A G intron_variant PACA-CA 4 54505838 54505838 single base substitution C T intron_variant PACA-CA 4 54506230 54506230 single base substitution T C intron_variant PACA-CA 4 54509798 54509801 deletion of <=200bp TCTT - intron_variant PACA-CA 4 54511134 54511134 single base substitution C G intron_variant PACA-CA 4 54514857 54514857 single base substitution C T intron_variant PACA-CA 4 54516658 54516676 deletion of <=200bp GTTACAAATGTGGAAAGGG - intron_variant PACA-CA 4 54518005 54518005 deletion of <=200bp T - intron_variant PACA-CA 4 54518946 54518946 single base substitution G T intron_variant PACA-CA 4 54518946 54518946 single base substitution G T upstream_gene_variant PACA-CA 4 54522159 54522159 single base substitution C A intron_variant PACA-CA 4 54522159 54522159 single base substitution C A upstream_gene_variant PACA-CA 4 54525244 54525244 single base substitution T C intron_variant PACA-CA 4 54526110 54526110 single base substitution G C intron_variant PACA-CA 4 54527803 54527803 single base substitution G A intron_variant PACA-CA 4 54528778 54528778 single base substitution A T intron_variant PACA-CA 4 54531263 54531263 single base substitution T C intron_variant PACA-CA 4 54531542 54531542 single base substitution T C intron_variant PACA-CA 4 54535095 54535095 insertion of <=200bp - T intron_variant PACA-CA 4 54538209 54538209 single base substitution G C intron_variant PACA-CA 4 54541312 54541312 single base substitution C A intron_variant PACA-CA 4 54541521 54541521 single base substitution C A intron_variant PACA-CA 4 54542145 54542145 single base substitution T C intron_variant PACA-CA 4 54542301 54542301 single base substitution G A intron_variant PACA-CA 4 54550732 54550732 single base substitution G A intron_variant PACA-CA 4 54559277 54559277 single base substitution C T intron_variant PACA-CA 4 54559645 54559645 single base substitution G A intron_variant PACA-CA 4 54563027 54563027 single base substitution T A intron_variant PACA-CA 4 54563028 54563028 single base substitution A T intron_variant PACA-CA 4 54563712 54563712 single base substitution G T intron_variant PACA-CA 4 54569540 54569540 single base substitution G T upstream_gene_variant PAEN-AU 4 54332943 54332943 single base substitution T G intron_variant PAEN-AU 4 54392259 54392259 single base substitution G A intron_variant PAEN-AU 4 54402643 54402643 single base substitution T A intron_variant PAEN-AU 4 54419116 54419116 single base substitution G A intron_variant PAEN-AU 4 54429948 54429948 single base substitution C A intron_variant PAEN-AU 4 54448059 54448059 single base substitution T C intron_variant PAEN-AU 4 54474084 54474084 single base substitution C T intron_variant PAEN-AU 4 54492248 54492248 single base substitution T C intron_variant PAEN-AU 4 54494800 54494800 single base substitution C A intron_variant PAEN-AU 4 54495892 54495892 single base substitution T C intron_variant PAEN-AU 4 54566260 54566260 single base substitution G T intron_variant PAEN-IT 4 54363761 54363761 single base substitution A G downstream_gene_variant PAEN-IT 4 54363761 54363761 single base substitution A G intron_variant PAEN-IT 4 54367376 54367376 single base substitution T C intron_variant PAEN-IT 4 54503494 54503494 single base substitution G T intron_variant PAEN-IT 4 54523308 54523308 single base substitution C A intron_variant PAEN-IT 4 54523308 54523308 single base substitution C A upstream_gene_variant PAEN-IT 4 54558788 54558788 single base substitution G A intron_variant PBCA-DE 4 54324131 54324131 single base substitution G C downstream_gene_variant PBCA-DE 4 54325887 54325887 single base substitution G T 3_prime_UTR_variant PBCA-DE 4 54325887 54325887 single base substitution G T downstream_gene_variant PBCA-DE 4 54326876 54326876 insertion of <=200bp - A 3_prime_UTR_variant PBCA-DE 4 54333647 54333647 single base substitution A T intron_variant PBCA-DE 4 54341541 54341541 single base substitution C T intron_variant PBCA-DE 4 54349646 54349646 single base substitution G A intron_variant PBCA-DE 4 54356361 54356361 single base substitution C A intron_variant PBCA-DE 4 54359150 54359150 insertion of <=200bp - T intron_variant PBCA-DE 4 54359310 54359310 single base substitution A G intron_variant PBCA-DE 4 54363182 54363182 single base substitution G T downstream_gene_variant PBCA-DE 4 54363182 54363182 single base substitution G T intron_variant PBCA-DE 4 54363348 54363348 single base substitution G T downstream_gene_variant PBCA-DE 4 54363348 54363348 single base substitution G T intron_variant PBCA-DE 4 54369566 54369566 single base substitution C T intron_variant PBCA-DE 4 54371905 54371905 single base substitution G T intron_variant PBCA-DE 4 54376923 54376923 single base substitution C A intron_variant PBCA-DE 4 54376923 54376923 single base substitution C A upstream_gene_variant PBCA-DE 4 54380748 54380748 single base substitution A G intron_variant PBCA-DE 4 54388558 54388558 single base substitution G A intron_variant PBCA-DE 4 54405797 54405797 single base substitution T A intron_variant PBCA-DE 4 54405903 54405903 single base substitution C G intron_variant PBCA-DE 4 54407491 54407491 insertion of <=200bp - A intron_variant PBCA-DE 4 54415009 54415009 single base substitution C T intron_variant PBCA-DE 4 54422248 54422248 single base substitution G C intron_variant PBCA-DE 4 54423136 54423136 single base substitution C T intron_variant PBCA-DE 4 54427497 54427497 single base substitution C T intron_variant PBCA-DE 4 54427497 54427497 single base substitution C T upstream_gene_variant PBCA-DE 4 54431003 54431003 single base substitution C T intron_variant PBCA-DE 4 54446812 54446812 single base substitution A C intron_variant PBCA-DE 4 54455282 54455282 single base substitution A C intron_variant PBCA-DE 4 54455665 54455665 single base substitution A G intron_variant PBCA-DE 4 54458820 54458820 single base substitution G A intron_variant PBCA-DE 4 54458820 54458820 single base substitution G A upstream_gene_variant PBCA-DE 4 54460308 54460309 deletion of <=200bp AT - intron_variant PBCA-DE 4 54460308 54460309 deletion of <=200bp AT - upstream_gene_variant PBCA-DE 4 54461988 54461988 single base substitution G A intron_variant PBCA-DE 4 54461988 54461988 single base substitution G A upstream_gene_variant PBCA-DE 4 54464950 54464950 single base substitution G A intron_variant PBCA-DE 4 54475898 54475898 single base substitution A G intron_variant PBCA-DE 4 54485850 54485850 single base substitution G A intron_variant PBCA-DE 4 54485850 54485850 single base substitution G A upstream_gene_variant PBCA-DE 4 54491084 54491084 single base substitution G T intron_variant PBCA-DE 4 54493451 54493451 single base substitution G A intron_variant PBCA-DE 4 54533781 54533781 insertion of <=200bp - T intron_variant PBCA-DE 4 54534829 54534829 single base substitution C A intron_variant PBCA-DE 4 54535114 54535114 single base substitution T G intron_variant PBCA-DE 4 54535856 54535856 single base substitution G A intron_variant PBCA-DE 4 54566649 54566649 single base substitution G A intron_variant PRAD-CA 4 54342537 54342537 single base substitution T C intron_variant PRAD-CA 4 54395721 54395721 single base substitution C T intron_variant PRAD-CA 4 54454116 54454116 single base substitution G A intron_variant PRAD-CA 4 54471757 54471757 single base substitution C A intron_variant PRAD-CA 4 54528584 54528584 single base substitution A T intron_variant PRAD-CA 4 54563896 54563896 single base substitution C T intron_variant PRAD-CA 4 54568886 54568886 single base substitution A C upstream_gene_variant PRAD-UK 4 54329793 54329793 single base substitution A C intron_variant PRAD-UK 4 54332245 54332245 single base substitution T A intron_variant PRAD-UK 4 54342920 54342920 single base substitution C T missense_variant R535Q 1604G>A PRAD-UK 4 54342920 54342920 single base substitution C T missense_variant R631Q 1892G>A PRAD-UK 4 54350185 54350185 single base substitution G T intron_variant PRAD-UK 4 54351018 54351018 single base substitution G T intron_variant PRAD-UK 4 54354693 54354693 deletion of <=200bp T - intron_variant PRAD-UK 4 54361791 54361791 single base substitution C A downstream_gene_variant PRAD-UK 4 54361791 54361791 single base substitution C A intron_variant PRAD-UK 4 54362143 54362143 single base substitution C A downstream_gene_variant PRAD-UK 4 54362143 54362143 single base substitution C A intron_variant PRAD-UK 4 54363752 54363752 single base substitution G A downstream_gene_variant PRAD-UK 4 54363752 54363752 single base substitution G A intron_variant PRAD-UK 4 54375842 54375842 single base substitution A G intron_variant PRAD-UK 4 54375842 54375842 single base substitution A G upstream_gene_variant PRAD-UK 4 54394293 54394293 single base substitution C T intron_variant PRAD-UK 4 54402141 54402141 single base substitution G A intron_variant PRAD-UK 4 54408357 54408357 single base substitution T C intron_variant PRAD-UK 4 54441377 54441377 single base substitution G A intron_variant PRAD-UK 4 54449899 54449899 single base substitution G C intron_variant PRAD-UK 4 54452838 54452840 deletion of <=200bp AGA - intron_variant PRAD-UK 4 54459305 54459305 single base substitution A C intron_variant PRAD-UK 4 54459305 54459305 single base substitution A C upstream_gene_variant PRAD-UK 4 54474662 54474662 single base substitution C T intron_variant PRAD-UK 4 54475836 54475857 deletion of <=200bp ATACTATTATAGTACTATTATA - intron_variant PRAD-UK 4 54475842 54475891 multiple base substitution (>=2bp and <=200bp) TTATAGTACTATTATAATACTATTATAGTACTATTATAATATATAGTACA TATAGTACAATATATAATATACTATTATATATT intron_variant PRAD-UK 4 54479635 54479635 single base substitution T C intron_variant PRAD-UK 4 54480842 54480842 single base substitution G T intron_variant PRAD-UK 4 54490005 54490005 single base substitution A T intron_variant PRAD-UK 4 54497863 54497863 single base substitution A G intron_variant PRAD-UK 4 54500559 54500559 single base substitution C T intron_variant PRAD-UK 4 54502512 54502512 deletion of <=200bp A - intron_variant PRAD-UK 4 54503407 54503407 single base substitution A T intron_variant PRAD-UK 4 54504636 54504636 single base substitution G C intron_variant PRAD-UK 4 54508169 54508169 single base substitution C A intron_variant PRAD-UK 4 54510855 54510855 single base substitution A T intron_variant PRAD-UK 4 54511200 54511200 single base substitution A G intron_variant PRAD-UK 4 54517186 54517186 single base substitution T C intron_variant PRAD-UK 4 54530490 54530490 single base substitution T A intron_variant PRAD-UK 4 54534129 54534129 single base substitution A G intron_variant PRAD-UK 4 54534536 54534536 deletion of <=200bp T - intron_variant PRAD-UK 4 54537311 54537311 single base substitution G T intron_variant PRAD-UK 4 54542201 54542201 insertion of <=200bp - G intron_variant PRAD-UK 4 54554655 54554655 single base substitution G T intron_variant PRAD-UK 4 54554656 54554656 single base substitution C T intron_variant PRAD-UK 4 54562819 54562819 single base substitution G T intron_variant PRAD-US 4 54325595 54325595 insertion of <=200bp - G 3_prime_UTR_variant PRAD-US 4 54325595 54325595 insertion of <=200bp - G downstream_gene_variant PRAD-US 4 54424152 54424152 single base substitution C A 5_prime_UTR_premature_start_codon_gain_variant PRAD-US 4 54424152 54424152 single base substitution C A intron_variant PRAD-US 4 54440053 54440053 single base substitution G A downstream_gene_variant PRAD-US 4 54440053 54440053 single base substitution G A synonymous_variant L39L 117C>T READ-US 4 54440127 54440128 deletion of <=200bp CA - downstream_gene_variant READ-US 4 54440127 54440128 deletion of <=200bp CA - frameshift_variant CA14 RECA-EU 4 54323956 54323956 single base substitution A G downstream_gene_variant RECA-EU 4 54327155 54327155 single base substitution A T missense_variant H606Q 1818T>A RECA-EU 4 54327155 54327155 single base substitution A T missense_variant H702Q 2106T>A RECA-EU 4 54332368 54332368 single base substitution T A intron_variant RECA-EU 4 54333418 54333418 single base substitution C T intron_variant RECA-EU 4 54333419 54333419 single base substitution C A intron_variant RECA-EU 4 54351958 54351958 single base substitution T A intron_variant RECA-EU 4 54359582 54359582 single base substitution T C intron_variant RECA-EU 4 54362975 54362975 single base substitution C T downstream_gene_variant RECA-EU 4 54362975 54362975 single base substitution C T intron_variant RECA-EU 4 54369773 54369773 single base substitution G C intron_variant RECA-EU 4 54373956 54373956 single base substitution G A intron_variant RECA-EU 4 54386965 54386965 single base substitution C A intron_variant RECA-EU 4 54387592 54387592 single base substitution C T intron_variant RECA-EU 4 54396250 54396250 single base substitution T A intron_variant RECA-EU 4 54399532 54399532 single base substitution G A intron_variant RECA-EU 4 54404934 54404934 single base substitution T C intron_variant RECA-EU 4 54409291 54409291 single base substitution G A intron_variant RECA-EU 4 54416511 54416511 single base substitution A T intron_variant RECA-EU 4 54419984 54419984 single base substitution T A intron_variant RECA-EU 4 54421926 54421926 single base substitution A C intron_variant RECA-EU 4 54426592 54426592 single base substitution C A intron_variant RECA-EU 4 54426592 54426592 single base substitution C A upstream_gene_variant RECA-EU 4 54454805 54454805 single base substitution T A intron_variant RECA-EU 4 54466493 54466493 single base substitution G A intron_variant RECA-EU 4 54469709 54469709 single base substitution A T intron_variant RECA-EU 4 54470045 54470045 single base substitution A T intron_variant RECA-EU 4 54480847 54480847 single base substitution C G intron_variant RECA-EU 4 54495736 54495736 single base substitution C A intron_variant RECA-EU 4 54496006 54496006 single base substitution A T intron_variant RECA-EU 4 54519151 54519151 single base substitution A G intron_variant RECA-EU 4 54519151 54519151 single base substitution A G upstream_gene_variant RECA-EU 4 54528493 54528493 single base substitution T A intron_variant RECA-EU 4 54552214 54552214 single base substitution C T intron_variant RECA-EU 4 54553249 54553249 single base substitution T A intron_variant RECA-EU 4 54571661 54571661 single base substitution T G upstream_gene_variant SKCA-BR 4 54321288 54321288 single base substitution C T downstream_gene_variant SKCA-BR 4 54332943 54332943 single base substitution T G intron_variant SKCA-BR 4 54332949 54332949 single base substitution A G intron_variant SKCA-BR 4 54334500 54334500 single base substitution C T intron_variant SKCA-BR 4 54335333 54335333 single base substitution A G intron_variant SKCA-BR 4 54335363 54335363 single base substitution C A intron_variant SKCA-BR 4 54337190 54337190 single base substitution G T intron_variant SKCA-BR 4 54337196 54337196 single base substitution C T intron_variant SKCA-BR 4 54337217 54337217 single base substitution G A intron_variant SKCA-BR 4 54338346 54338346 single base substitution C T intron_variant SKCA-BR 4 54338866 54338867 deletion of <=200bp AC - intron_variant SKCA-BR 4 54338925 54338925 single base substitution G T intron_variant SKCA-BR 4 54344497 54344497 single base substitution C T intron_variant SKCA-BR 4 54344903 54344903 single base substitution G A missense_variant H402Y 1204C>T SKCA-BR 4 54344903 54344903 single base substitution G A missense_variant H498Y 1492C>T SKCA-BR 4 54346471 54346471 single base substitution G A intron_variant SKCA-BR 4 54347905 54347905 single base substitution C T synonymous_variant E393E 1179G>A SKCA-BR 4 54347905 54347905 single base substitution C T synonymous_variant E489E 1467G>A SKCA-BR 4 54349364 54349364 single base substitution C T intron_variant SKCA-BR 4 54349462 54349462 single base substitution C T intron_variant SKCA-BR 4 54350819 54350819 single base substitution C T intron_variant SKCA-BR 4 54351211 54351211 single base substitution G A intron_variant SKCA-BR 4 54353231 54353231 single base substitution C T intron_variant SKCA-BR 4 54353703 54353703 single base substitution G A intron_variant SKCA-BR 4 54354008 54354008 single base substitution T G intron_variant SKCA-BR 4 54355474 54355474 single base substitution C T intron_variant SKCA-BR 4 54355497 54355497 single base substitution C T intron_variant SKCA-BR 4 54356060 54356061 deletion of <=200bp TA - intron_variant SKCA-BR 4 54363887 54363887 single base substitution A G downstream_gene_variant SKCA-BR 4 54363887 54363887 single base substitution A G intron_variant SKCA-BR 4 54367465 54367465 single base substitution T G intron_variant SKCA-BR 4 54368018 54368018 single base substitution C T intron_variant SKCA-BR 4 54370630 54370630 single base substitution T G intron_variant SKCA-BR 4 54370687 54370687 single base substitution C T intron_variant SKCA-BR 4 54370829 54370829 single base substitution G A intron_variant SKCA-BR 4 54371611 54371611 single base substitution G A intron_variant SKCA-BR 4 54374220 54374220 single base substitution C A exon_variant SKCA-BR 4 54374220 54374220 single base substitution C A synonymous_variant V185V 555G>T SKCA-BR 4 54374220 54374220 single base substitution C A synonymous_variant V89V 267G>T SKCA-BR 4 54375467 54375467 single base substitution C T intron_variant SKCA-BR 4 54375467 54375467 single base substitution C T upstream_gene_variant SKCA-BR 4 54379068 54379068 single base substitution G A intron_variant SKCA-BR 4 54379068 54379068 single base substitution G A upstream_gene_variant SKCA-BR 4 54379905 54379905 single base substitution C T intron_variant SKCA-BR 4 54383756 54383756 single base substitution A C intron_variant SKCA-BR 4 54386328 54386328 single base substitution A G intron_variant SKCA-BR 4 54386485 54386485 single base substitution G T intron_variant SKCA-BR 4 54389103 54389103 single base substitution G A intron_variant SKCA-BR 4 54390440 54390440 single base substitution G A intron_variant SKCA-BR 4 54390901 54390901 single base substitution G A intron_variant SKCA-BR 4 54394594 54394594 single base substitution C T intron_variant SKCA-BR 4 54394847 54394848 deletion of <=200bp AG - intron_variant SKCA-BR 4 54394853 54394853 single base substitution G A intron_variant SKCA-BR 4 54395269 54395269 insertion of <=200bp - AACACACACACACACAC intron_variant SKCA-BR 4 54395531 54395531 single base substitution C T intron_variant SKCA-BR 4 54396414 54396414 single base substitution C T intron_variant SKCA-BR 4 54397069 54397069 single base substitution A T intron_variant SKCA-BR 4 54398340 54398340 single base substitution C T intron_variant SKCA-BR 4 54399732 54399732 single base substitution A T intron_variant SKCA-BR 4 54401013 54401013 single base substitution G A intron_variant SKCA-BR 4 54402547 54402547 single base substitution C T intron_variant SKCA-BR 4 54403578 54403578 single base substitution G A intron_variant SKCA-BR 4 54404041 54404041 single base substitution C T intron_variant SKCA-BR 4 54404426 54404426 single base substitution C T intron_variant SKCA-BR 4 54404620 54404620 single base substitution G A intron_variant SKCA-BR 4 54405129 54405129 single base substitution A G intron_variant SKCA-BR 4 54405555 54405555 insertion of <=200bp - CA intron_variant SKCA-BR 4 54406538 54406538 single base substitution A C intron_variant SKCA-BR 4 54407080 54407080 single base substitution G A intron_variant SKCA-BR 4 54407315 54407315 insertion of <=200bp - AG intron_variant SKCA-BR 4 54407316 54407316 single base substitution A G intron_variant SKCA-BR 4 54408242 54408242 single base substitution G A intron_variant SKCA-BR 4 54411097 54411097 single base substitution C T intron_variant SKCA-BR 4 54411927 54411927 single base substitution A G intron_variant SKCA-BR 4 54413552 54413552 single base substitution C T intron_variant SKCA-BR 4 54417158 54417158 single base substitution C A intron_variant SKCA-BR 4 54418814 54418814 single base substitution G A intron_variant SKCA-BR 4 54419730 54419730 single base substitution T A intron_variant SKCA-BR 4 54425237 54425237 single base substitution G A intron_variant SKCA-BR 4 54425237 54425237 single base substitution G A upstream_gene_variant SKCA-BR 4 54427015 54427015 single base substitution C T intron_variant SKCA-BR 4 54427015 54427015 single base substitution C T upstream_gene_variant SKCA-BR 4 54431503 54431503 single base substitution G A intron_variant SKCA-BR 4 54431773 54431773 single base substitution G A intron_variant SKCA-BR 4 54432041 54432041 single base substitution G A intron_variant SKCA-BR 4 54432266 54432266 single base substitution C T intron_variant SKCA-BR 4 54432267 54432267 single base substitution C T intron_variant SKCA-BR 4 54433828 54433828 single base substitution G A intron_variant SKCA-BR 4 54433869 54433869 single base substitution C T intron_variant SKCA-BR 4 54434476 54434476 single base substitution G A intron_variant SKCA-BR 4 54434848 54434848 single base substitution G A downstream_gene_variant SKCA-BR 4 54434848 54434848 single base substitution G A intron_variant SKCA-BR 4 54435070 54435070 single base substitution C T downstream_gene_variant SKCA-BR 4 54435070 54435070 single base substitution C T intron_variant SKCA-BR 4 54435412 54435412 single base substitution C T downstream_gene_variant SKCA-BR 4 54435412 54435412 single base substitution C T intron_variant SKCA-BR 4 54435941 54435941 single base substitution G A downstream_gene_variant SKCA-BR 4 54435941 54435941 single base substitution G A intron_variant SKCA-BR 4 54436167 54436167 single base substitution A G downstream_gene_variant SKCA-BR 4 54436167 54436167 single base substitution A G intron_variant SKCA-BR 4 54436285 54436285 single base substitution G A downstream_gene_variant SKCA-BR 4 54436285 54436285 single base substitution G A intron_variant SKCA-BR 4 54436904 54436904 single base substitution G T downstream_gene_variant SKCA-BR 4 54436904 54436904 single base substitution G T intron_variant SKCA-BR 4 54440830 54440830 single base substitution G T intron_variant SKCA-BR 4 54441148 54441149 deletion of <=200bp CG - intron_variant SKCA-BR 4 54441150 54441150 single base substitution T A intron_variant SKCA-BR 4 54442183 54442183 single base substitution A C intron_variant SKCA-BR 4 54442809 54442809 insertion of <=200bp - TA intron_variant SKCA-BR 4 54443513 54443513 single base substitution T G intron_variant SKCA-BR 4 54444643 54444643 single base substitution C A intron_variant SKCA-BR 4 54445107 54445107 single base substitution C T intron_variant SKCA-BR 4 54445412 54445412 single base substitution C T intron_variant SKCA-BR 4 54447584 54447584 single base substitution C T intron_variant SKCA-BR 4 54447591 54447591 single base substitution C T intron_variant SKCA-BR 4 54448828 54448828 single base substitution A G intron_variant SKCA-BR 4 54449625 54449625 single base substitution C T intron_variant SKCA-BR 4 54449812 54449812 single base substitution A T intron_variant SKCA-BR 4 54452390 54452390 single base substitution G A intron_variant SKCA-BR 4 54452391 54452391 single base substitution G A intron_variant SKCA-BR 4 54453295 54453295 single base substitution C T intron_variant SKCA-BR 4 54454140 54454140 single base substitution T C intron_variant SKCA-BR 4 54455337 54455337 single base substitution G A intron_variant SKCA-BR 4 54457147 54457147 single base substitution G A intron_variant SKCA-BR 4 54459379 54459380 deletion of <=200bp TC - intron_variant SKCA-BR 4 54459379 54459380 deletion of <=200bp TC - upstream_gene_variant SKCA-BR 4 54459381 54459381 single base substitution A T intron_variant SKCA-BR 4 54459381 54459381 single base substitution A T upstream_gene_variant SKCA-BR 4 54460449 54460449 single base substitution A G intron_variant SKCA-BR 4 54460449 54460449 single base substitution A G upstream_gene_variant SKCA-BR 4 54461071 54461071 single base substitution G A intron_variant SKCA-BR 4 54461071 54461071 single base substitution G A upstream_gene_variant SKCA-BR 4 54464106 54464106 single base substitution T A intron_variant SKCA-BR 4 54464748 54464748 single base substitution G A intron_variant SKCA-BR 4 54466509 54466509 single base substitution G A intron_variant SKCA-BR 4 54468546 54468546 single base substitution G A intron_variant SKCA-BR 4 54469957 54469957 single base substitution G A intron_variant SKCA-BR 4 54470804 54470804 single base substitution G T intron_variant SKCA-BR 4 54471311 54471311 single base substitution G A intron_variant SKCA-BR 4 54474330 54474330 single base substitution C T intron_variant SKCA-BR 4 54474746 54474746 single base substitution G A intron_variant SKCA-BR 4 54475170 54475170 single base substitution C T intron_variant SKCA-BR 4 54476854 54476854 single base substitution G A intron_variant SKCA-BR 4 54477661 54477661 single base substitution A G intron_variant SKCA-BR 4 54479006 54479006 single base substitution C T intron_variant SKCA-BR 4 54479937 54479937 single base substitution T C intron_variant SKCA-BR 4 54480354 54480354 single base substitution C T intron_variant SKCA-BR 4 54480882 54480882 single base substitution A G intron_variant SKCA-BR 4 54481000 54481000 single base substitution C T intron_variant SKCA-BR 4 54481110 54481110 single base substitution C T intron_variant SKCA-BR 4 54481838 54481838 single base substitution T C intron_variant SKCA-BR 4 54482190 54482190 single base substitution C T intron_variant SKCA-BR 4 54482819 54482819 single base substitution G T intron_variant SKCA-BR 4 54484363 54484363 single base substitution C T intron_variant SKCA-BR 4 54484363 54484363 single base substitution C T upstream_gene_variant SKCA-BR 4 54486257 54486257 single base substitution C T intron_variant SKCA-BR 4 54486257 54486257 single base substitution C T upstream_gene_variant SKCA-BR 4 54487159 54487159 single base substitution C T intron_variant SKCA-BR 4 54487159 54487159 single base substitution C T upstream_gene_variant SKCA-BR 4 54487571 54487571 single base substitution G A intron_variant SKCA-BR 4 54487571 54487571 single base substitution G A upstream_gene_variant SKCA-BR 4 54487750 54487750 single base substitution C T intron_variant SKCA-BR 4 54487750 54487750 single base substitution C T upstream_gene_variant SKCA-BR 4 54489461 54489461 single base substitution C T intron_variant SKCA-BR 4 54492009 54492009 insertion of <=200bp - CGTGT intron_variant SKCA-BR 4 54492888 54492888 single base substitution G A intron_variant SKCA-BR 4 54493230 54493230 single base substitution C T intron_variant SKCA-BR 4 54493279 54493279 single base substitution C T intron_variant SKCA-BR 4 54493383 54493383 single base substitution A G intron_variant SKCA-BR 4 54493390 54493390 single base substitution G A intron_variant SKCA-BR 4 54493964 54493964 single base substitution C T intron_variant SKCA-BR 4 54495003 54495003 single base substitution G A intron_variant SKCA-BR 4 54495671 54495671 single base substitution G A intron_variant SKCA-BR 4 54495812 54495812 single base substitution G A intron_variant SKCA-BR 4 54495917 54495917 single base substitution C T intron_variant SKCA-BR 4 54497491 54497491 single base substitution G A intron_variant SKCA-BR 4 54500034 54500034 single base substitution G A intron_variant SKCA-BR 4 54501279 54501279 single base substitution G A intron_variant SKCA-BR 4 54508481 54508481 single base substitution C T intron_variant SKCA-BR 4 54508625 54508625 single base substitution C T intron_variant SKCA-BR 4 54511231 54511231 single base substitution G A intron_variant SKCA-BR 4 54512274 54512274 single base substitution G A intron_variant SKCA-BR 4 54515446 54515446 single base substitution C T intron_variant SKCA-BR 4 54517953 54517953 single base substitution G A intron_variant SKCA-BR 4 54518744 54518744 single base substitution C T intron_variant SKCA-BR 4 54518744 54518744 single base substitution C T upstream_gene_variant SKCA-BR 4 54518926 54518926 single base substitution C T intron_variant SKCA-BR 4 54518926 54518926 single base substitution C T upstream_gene_variant SKCA-BR 4 54519395 54519395 single base substitution C T intron_variant SKCA-BR 4 54519395 54519395 single base substitution C T upstream_gene_variant SKCA-BR 4 54520058 54520058 single base substitution G A intron_variant SKCA-BR 4 54520058 54520058 single base substitution G A upstream_gene_variant SKCA-BR 4 54523208 54523208 single base substitution C T intron_variant SKCA-BR 4 54523208 54523208 single base substitution C T upstream_gene_variant SKCA-BR 4 54524709 54524709 single base substitution G A intron_variant SKCA-BR 4 54527641 54527641 single base substitution G A intron_variant SKCA-BR 4 54529100 54529100 single base substitution T G intron_variant SKCA-BR 4 54533996 54533996 single base substitution T A intron_variant SKCA-BR 4 54534449 54534455 deletion of <=200bp CTTGGGG - intron_variant SKCA-BR 4 54535518 54535518 single base substitution G A intron_variant SKCA-BR 4 54535844 54535844 single base substitution C T intron_variant SKCA-BR 4 54535997 54535997 single base substitution C T intron_variant SKCA-BR 4 54536248 54536248 single base substitution C T intron_variant SKCA-BR 4 54538196 54538196 single base substitution T G intron_variant SKCA-BR 4 54538497 54538497 single base substitution A C intron_variant SKCA-BR 4 54538685 54538685 single base substitution C T intron_variant SKCA-BR 4 54540744 54540744 single base substitution C T intron_variant SKCA-BR 4 54541567 54541567 single base substitution A T intron_variant SKCA-BR 4 54543798 54543798 single base substitution C T intron_variant SKCA-BR 4 54544601 54544601 single base substitution G A intron_variant SKCA-BR 4 54544821 54544821 single base substitution G A intron_variant SKCA-BR 4 54544852 54544852 single base substitution C T intron_variant SKCA-BR 4 54544971 54544971 single base substitution G A intron_variant SKCA-BR 4 54546861 54546861 single base substitution C T intron_variant SKCA-BR 4 54547880 54547880 single base substitution C T intron_variant SKCA-BR 4 54547910 54547910 single base substitution G A intron_variant SKCA-BR 4 54548659 54548659 single base substitution G A intron_variant SKCA-BR 4 54551390 54551390 single base substitution G A intron_variant SKCA-BR 4 54551985 54551985 single base substitution T C intron_variant SKCA-BR 4 54554625 54554625 single base substitution G T intron_variant SKCA-BR 4 54555367 54555367 single base substitution C T intron_variant SKCA-BR 4 54556451 54556451 single base substitution G A intron_variant SKCA-BR 4 54556697 54556697 single base substitution A G intron_variant SKCA-BR 4 54556808 54556808 single base substitution G A intron_variant SKCA-BR 4 54556832 54556832 single base substitution C T intron_variant SKCA-BR 4 54557019 54557019 single base substitution G A intron_variant SKCA-BR 4 54557747 54557747 single base substitution C T intron_variant SKCA-BR 4 54558140 54558140 single base substitution C T intron_variant SKCA-BR 4 54559048 54559056 deletion of <=200bp AAAAGAAGC - intron_variant SKCA-BR 4 54560701 54560701 single base substitution C T intron_variant SKCA-BR 4 54561473 54561473 single base substitution G A intron_variant SKCA-BR 4 54564464 54564464 single base substitution C T intron_variant SKCA-BR 4 54566145 54566145 single base substitution G A intron_variant SKCA-BR 4 54567616 54567616 single base substitution T A upstream_gene_variant SKCA-BR 4 54567772 54567772 single base substitution A G upstream_gene_variant SKCA-BR 4 54569770 54569770 insertion of <=200bp - TA upstream_gene_variant SKCA-BR 4 54570883 54570883 single base substitution C T upstream_gene_variant SKCA-BR 4 54571054 54571054 single base substitution G A upstream_gene_variant SKCA-BR 4 54571313 54571313 single base substitution C T upstream_gene_variant SKCA-BR 4 54572120 54572120 single base substitution G A upstream_gene_variant SKCA-BR 4 54572144 54572144 single base substitution C T upstream_gene_variant SKCM-US 4 54327130 54327130 single base substitution C T missense_variant E615K 1843G>A SKCM-US 4 54327130 54327130 single base substitution C T missense_variant E711K 2131G>A SKCM-US 4 54342990 54342990 single base substitution C T missense_variant D512N 1534G>A SKCM-US 4 54342990 54342990 single base substitution C T missense_variant D608N 1822G>A SKCM-US 4 54343015 54343015 single base substitution T C synonymous_variant E503E 1509A>G SKCM-US 4 54343015 54343015 single base substitution T C synonymous_variant E599E 1797A>G SKCM-US 4 54343060 54343060 single base substitution C G synonymous_variant S488S 1464G>C SKCM-US 4 54343060 54343060 single base substitution C G synonymous_variant S584S 1752G>C SKCM-US 4 54343061 54343061 single base substitution G A missense_variant S488L 1463C>T SKCM-US 4 54343061 54343061 single base substitution G A missense_variant S584L 1751C>T SKCM-US 4 54344769 54344769 deletion of <=200bp G - frameshift_variant P446 SKCM-US 4 54344769 54344769 deletion of <=200bp G - frameshift_variant P542 SKCM-US 4 54344801 54344801 single base substitution C T missense_variant D436N 1306G>A SKCM-US 4 54344801 54344801 single base substitution C T missense_variant D532N 1594G>A SKCM-US 4 54344824 54344824 single base substitution C T missense_variant G428E 1283G>A SKCM-US 4 54344824 54344824 single base substitution C T missense_variant G524E 1571G>A SKCM-US 4 54347931 54347931 single base substitution C G missense_variant G385R 1153G>C SKCM-US 4 54347931 54347931 single base substitution C G missense_variant G481R 1441G>C SKCM-US 4 54347998 54347998 single base substitution G A synonymous_variant L362L 1086C>T SKCM-US 4 54347998 54347998 single base substitution G A synonymous_variant L458L 1374C>T SKCM-US 4 54362234 54362234 single base substitution C T downstream_gene_variant SKCM-US 4 54362234 54362234 single base substitution C T missense_variant D340N 1018G>A SKCM-US 4 54362234 54362234 single base substitution C T missense_variant D436N 1306G>A SKCM-US 4 54362336 54362336 single base substitution C T downstream_gene_variant SKCM-US 4 54362336 54362336 single base substitution C T missense_variant D306N 916G>A SKCM-US 4 54362336 54362336 single base substitution C T missense_variant D402N 1204G>A SKCM-US 4 54362369 54362369 single base substitution C T downstream_gene_variant SKCM-US 4 54362369 54362369 single base substitution C T missense_variant E295K 883G>A SKCM-US 4 54362369 54362369 single base substitution C T missense_variant E391K 1171G>A SKCM-US 4 54364824 54364824 single base substitution C T downstream_gene_variant SKCM-US 4 54364824 54364824 single base substitution C T missense_variant G225E 674G>A SKCM-US 4 54364824 54364824 single base substitution C T missense_variant G321E 962G>A SKCM-US 4 54364864 54364864 single base substitution G A downstream_gene_variant SKCM-US 4 54364864 54364864 single base substitution G A missense_variant R212C 634C>T SKCM-US 4 54364864 54364864 single base substitution G A missense_variant R308C 922C>T SKCM-US 4 54364889 54364889 single base substitution G A downstream_gene_variant SKCM-US 4 54364889 54364889 single base substitution G A synonymous_variant V203V 609C>T SKCM-US 4 54364889 54364889 single base substitution G A synonymous_variant V299V 897C>T SKCM-US 4 54364942 54364942 single base substitution G A exon_variant SKCM-US 4 54364942 54364942 single base substitution G A missense_variant P186S 556C>T SKCM-US 4 54364942 54364942 single base substitution G A missense_variant P282S 844C>T SKCM-US 4 54373514 54373514 single base substitution C T exon_variant SKCM-US 4 54373514 54373514 single base substitution C T missense_variant E153K 457G>A SKCM-US 4 54373514 54373514 single base substitution C T missense_variant E249K 745G>A SKCM-US 4 54373525 54373525 single base substitution T C exon_variant SKCM-US 4 54373525 54373525 single base substitution T C missense_variant D149G 446A>G SKCM-US 4 54373525 54373525 single base substitution T C missense_variant D245G 734A>G SKCM-US 4 54374236 54374236 single base substitution T G exon_variant SKCM-US 4 54374236 54374236 single base substitution T G missense_variant D180A 539A>C SKCM-US 4 54374236 54374236 single base substitution T G missense_variant D84A 251A>C SKCM-US 4 54374252 54374252 single base substitution C T exon_variant SKCM-US 4 54374252 54374252 single base substitution C T missense_variant D175N 523G>A SKCM-US 4 54374252 54374252 single base substitution C T missense_variant D79N 235G>A SKCM-US 4 54439916 54439916 single base substitution T G downstream_gene_variant SKCM-US 4 54439916 54439916 single base substitution T G missense_variant Q85P 254A>C SKCM-US 4 54439943 54439943 single base substitution G A downstream_gene_variant SKCM-US 4 54439943 54439943 single base substitution G A missense_variant P76L 227C>T SKCM-US 4 54440097 54440097 single base substitution C T downstream_gene_variant SKCM-US 4 54440097 54440097 single base substitution C T missense_variant E25K 73G>A STAD-US 4 54324830 54324830 single base substitution C T downstream_gene_variant STAD-US 4 54324899 54324899 single base substitution C T downstream_gene_variant STAD-US 4 54325484 54325484 single base substitution C T 3_prime_UTR_variant STAD-US 4 54325484 54325484 single base substitution C T downstream_gene_variant STAD-US 4 54325608 54325608 single base substitution G A 3_prime_UTR_variant STAD-US 4 54325608 54325608 single base substitution G A downstream_gene_variant STAD-US 4 54327149 54327149 single base substitution G A synonymous_variant C608C 1824C>T STAD-US 4 54327149 54327149 single base substitution G A synonymous_variant C704C 2112C>T STAD-US 4 54343119 54343119 single base substitution C T missense_variant E469K 1405G>A STAD-US 4 54343119 54343119 single base substitution C T missense_variant E565K 1693G>A STAD-US 4 54364820 54364820 single base substitution G T downstream_gene_variant STAD-US 4 54364820 54364820 single base substitution G T missense_variant D226E 678C>A STAD-US 4 54364820 54364820 single base substitution G T missense_variant D322E 966C>A STAD-US 4 54364904 54364904 single base substitution G A downstream_gene_variant STAD-US 4 54364904 54364904 single base substitution G A synonymous_variant S198S 594C>T STAD-US 4 54364904 54364904 single base substitution G A synonymous_variant S294S 882C>T STAD-US 4 54440034 54440034 single base substitution G A downstream_gene_variant STAD-US 4 54440034 54440034 single base substitution G A stop_gained Q46* 136C>T THCA-SA 4 54326088 54326088 single base substitution T C 3_prime_UTR_variant THCA-SA 4 54326088 54326088 single base substitution T C downstream_gene_variant THCA-SA 4 54327211 54327211 insertion of <=200bp - A splice_acceptor_variant THCA-SA 4 54457557 54457557 single base substitution C T intron_variant THCA-SA 4 54457557 54457557 single base substitution C T splice_region_variant THCA-US 4 54440038 54440038 single base substitution G C downstream_gene_variant THCA-US 4 54440038 54440038 single base substitution G C missense_variant C44W 132C>G UCEC-US 4 54324841 54324841 single base substitution C T downstream_gene_variant UCEC-US 4 54325595 54325595 single base substitution C T 3_prime_UTR_variant UCEC-US 4 54325595 54325595 single base substitution C T downstream_gene_variant UCEC-US 4 54325596 54325596 single base substitution G T 3_prime_UTR_variant UCEC-US 4 54325596 54325596 single base substitution G T downstream_gene_variant UCEC-US 4 54327741 54327741 single base substitution C A missense_variant D542Y 1624G>T UCEC-US 4 54327741 54327741 single base substitution C A missense_variant D638Y 1912G>T UCEC-US 4 54342949 54342949 single base substitution T C synonymous_variant P525P 1575A>G UCEC-US 4 54342949 54342949 single base substitution T C synonymous_variant P621P 1863A>G UCEC-US 4 54343122 54343122 single base substitution C T missense_variant V468I 1402G>A UCEC-US 4 54343122 54343122 single base substitution C T missense_variant V564I 1690G>A UCEC-US 4 54344841 54344841 single base substitution G A synonymous_variant L422L 1266C>T UCEC-US 4 54344841 54344841 single base substitution G A synonymous_variant L518L 1554C>T UCEC-US 4 54347959 54347959 single base substitution G T synonymous_variant I375I 1125C>A UCEC-US 4 54347959 54347959 single base substitution G T synonymous_variant I471I 1413C>A UCEC-US 4 54362345 54362345 single base substitution G A downstream_gene_variant UCEC-US 4 54362345 54362345 single base substitution G A missense_variant R303C 907C>T UCEC-US 4 54362345 54362345 single base substitution G A missense_variant R399C 1195C>T UCEC-US 4 54364868 54364868 single base substitution A C downstream_gene_variant UCEC-US 4 54364868 54364868 single base substitution A C missense_variant I210M 630T>G UCEC-US 4 54364868 54364868 single base substitution A C missense_variant I306M 918T>G UCEC-US 4 54364894 54364894 single base substitution G A downstream_gene_variant UCEC-US 4 54364894 54364894 single base substitution G A synonymous_variant L202L 604C>T UCEC-US 4 54364894 54364894 single base substitution G A synonymous_variant L298L 892C>T UCEC-US 4 54373483 54373483 single base substitution C T splice_donor_variant UCEC-US 4 54374173 54374173 single base substitution C T exon_variant UCEC-US 4 54374173 54374173 single base substitution C T missense_variant G105D 314G>A UCEC-US 4 54374173 54374173 single base substitution C T missense_variant G201D 602G>A UCEC-US 4 54374223 54374223 single base substitution G A exon_variant UCEC-US 4 54374223 54374223 single base substitution G A synonymous_variant Y184Y 552C>T UCEC-US 4 54374223 54374223 single base substitution G A synonymous_variant Y88Y 264C>T UCEC-US 4 54374352 54374352 single base substitution C T exon_variant UCEC-US 4 54374352 54374352 single base substitution C T synonymous_variant K141K 423G>A UCEC-US 4 54374352 54374352 single base substitution C T synonymous_variant K45K 135G>A UCEC-US 4 54374384 54374384 single base substitution C T exon_variant UCEC-US 4 54374384 54374384 single base substitution C T missense_variant A131T 391G>A UCEC-US 4 54374384 54374384 single base substitution C T missense_variant A35T 103G>A UCEC-US 4 54424125 54424125 single base substitution G A intron_variant UCEC-US 4 54424125 54424125 single base substitution G A missense_variant A3V 8C>T UCEC-US 4 54439998 54439998 single base substitution G A downstream_gene_variant UCEC-US 4 54439998 54439998 single base substitution G A missense_variant H58Y 172C>T UCEC-US 4 54441787 54441787 single base substitution G A intron_variant UCEC-US 4 54441976 54441976 single base substitution G A intron_variant UCEC-US 4 54442113 54442113 single base substitution G A intron_variant UCEC-US 4 54442357 54442357 single base substitution G T intron_variant UCEC-US 4 54442449 54442449 single base substitution C T intron_variant UCEC-US 4 54442450 54442450 single base substitution G A intron_variant

Mutation - COSMIC Sample Name Mutation ID Mutation CDS Mutation AA Mutation Description Mutation Genome Position Mutation Strand ESCC_BICR_033T COSM3301204 c.1283G>A p.R428H Substitution - Missense 4:53496090-53496090 - C086 COSM3917918 c.457G>A p.E153K Substitution - Missense 4:53507347-53507347 - TCGA-AP-A051-01 COSM1594565 c.391G>A p.A131T Substitution - Missense 4:53508217-53508217 - B47-Tumor COSM1753768 c.1085G>A p.R362H Substitution - Missense 4:53496288-53496288 - RK305_C01 COSM4943773 c.55G>T p.D19Y Substitution - Missense 4:53557911-53557911 - BN05 COSM1618908 c.1056G>A p.L352L Substitution - coding silent 4:53496029-53496029 - ccRCC-55 COSM1659481 c.308A>G p.D103G Substitution - Missense 4:53508012-53508012 - TCGA-D1-A17Q-01 COSM1594573 c.1912G>T p.D638Y Substitution - Missense 4:53461574-53461574 - CHC1207T COSM4800023 c.426T>C p.S142S Substitution - coding silent 4:53507378-53507378 - 010-0028-02TD COSM5416821 c.1579T>C p.S527P Substitution - Missense 4:53478649-53478649 - HT115 COSM3301171 c.1856G>T p.R619I Substitution - Missense 4:53460950-53460950 - TCGA-EE-A2GR-06 COSM3604469 c.1306G>A p.D436N Substitution - Missense 4:53496067-53496067 - C0086T COSM4153491 c.1818T>A p.H606Q Substitution - Missense 4:53460988-53460988 - TCGA-EE-A2GO-06 COSM3604468 c.1086C>T p.L362L Substitution - coding silent 4:53481831-53481831 - TCGA-BM-6198-01 COSM5075848 c.42_43delTG p.A15fs*22 Deletion - Frameshift 4:53573960-53573961 - MOLT-4 COSM1671024 c.1636C>T p.R546* Substitution - Nonsense 4:53461562-53461562 - B69 COSM254787 c.337C>T p.R113W Substitution - Missense 4:53507467-53507467 - T3091 COSM4698320 c.1776C>T p.V592V Substitution - coding silent 4:53476869-53476869 - CHC1207T COSM4800022 c.714T>C p.S238S Substitution - coding silent 4:53507378-53507378 - QC2-36-T2 COSM5176450 c.1828G>T p.A610S Substitution - Missense 4:53460978-53460978 - CHC961T COSM4950857 c.1375G>T p.V459F Substitution - Missense 4:53481830-53481830 - TCGA-G7-7502-01 COSM3993721 c.954C>T p.G318G Substitution - coding silent 4:53496131-53496131 - TCGA-CK-5913-01 COSM1430034 c.1711C>T p.R571W Substitution - Missense 4:53476934-53476934 - BD87T COSM3301215 c.737G>A p.R246H Substitution - Missense 4:53496348-53496348 - ZZUFHECRKL-G057T COSM5445577 c.333G>A p.R111R Substitution - coding silent 4:53507987-53507987 - SJAMLM7006 COSM3301199 c.1105C>T p.R369W Substitution - Missense 4:53481812-53481812 - 234 COSM3730904 c.1400G>T p.G467V Substitution - Missense 4:53476957-53476957 - S00943 COSM312548 c.423G>A p.G141G Substitution - coding silent 4:53507381-53507381 - TCGA-EE-A29D-06 COSM3604460 c.1463C>T p.S488L Substitution - Missense 4:53476894-53476894 - TCGA-EE-A2GC-06 COSM3604474 c.634C>T p.R212C Substitution - Missense 4:53498697-53498697 - TCGA-D8-A1XW-01 COSM1486010 c.570C>T p.D190D Substitution - coding silent 4:53508038-53508038 - Pat_32_A COSM5866520 c.170C>T p.A57V Substitution - Missense 4:53508150-53508150 - TCGA-EE-A3AF-06 COSM3604465 c.1441G>C p.G481R Substitution - Missense 4:53481764-53481764 - CHC1207T COSM4800022 c.714T>C p.S238S Substitution - coding silent 4:53507378-53507378 - YUKAT COSM5401319 c.316C>T p.P106S Substitution - Missense 4:53573687-53573687 - B88 COSM1753770 c.996C>G p.I332M Substitution - Missense 4:53496377-53496377 - B65-Tumor COSM1291925 c.615C>T p.I205I Substitution - coding silent 4:53498716-53498716 - T2269 COSM3604474 c.634C>T p.R212C Substitution - Missense 4:53498697-53498697 - 53M COSM5594831 c.132G>A p.R44R Substitution - coding silent 4:53508188-53508188 - PTC-10C COSM4159107 c.1585A>C p.M529L Substitution - Missense 4:53476772-53476772 - Pat_41_B COSM5866513 c.1135A>G p.S379G Substitution - Missense 4:53496238-53496238 - 526LT COSM4385903 c.2052-2_2052-1insT p.? Unknown 4:53461043-53461044 - RK308_C01 COSM3767899 c.249T>A p.V83V Substitution - coding silent 4:53573754-53573754 - TCGA-A7-A4SE-01 COSM3825971 c.1670T>C p.I557T Substitution - Missense 4:53461528-53461528 - GC_340T-GC_340N COSM1618906 c.2052-3delT p.? Unknown 4:53461045-53461045 - CSCC-10-T COSM4505521 c.694C>T p.R232* Substitution - Nonsense 4:53507398-53507398 - DLD1 COSM4625315 c.506A>T p.H169L Substitution - Missense 4:53498825-53498825 - B47 COSM1753768 c.1085G>A p.R362H Substitution - Missense 4:53496288-53496288 - TCGA-43-5668-01 COSM734188 c.1464G>C p.S488S Substitution - coding silent 4:53476893-53476893 - BD114T COSM5502858 c.1534G>T p.D512Y Substitution - Missense 4:53476823-53476823 - S02294 COSM5688882 c.256C>G p.P86A Substitution - Missense 4:53508064-53508064 - Pat_01_A COSM5866515 c.814A>T p.I272F Substitution - Missense 4:53498805-53498805 - TCGA-GF-A6C9-06 COSM4901729 c.446A>G p.D149G Substitution - Missense 4:53507358-53507358 - B88 COSM254788 c.708C>G p.I236M Substitution - Missense 4:53496377-53496377 - TCGA-G7-7502-01 COSM3993720 c.1242C>T p.G414G Substitution - coding silent 4:53496131-53496131 - TCGA-EE-A20C-06 COSM3917921 c.73G>A p.E25K Substitution - Missense 4:53573930-53573930 - TCGA-GF-A6C9-06 COSM4901728 c.734A>G p.D245G Substitution - Missense 4:53507358-53507358 - TCGA-A8-A09I-01 COSM1134210 c.1123C>T p.P375S Substitution - Missense 4:53496250-53496250 - Pat_05_B COSM5866518 c.191C>T p.P64L Substitution - Missense 4:53508129-53508129 - TCGA-BH-A0E6-01 COSM447942 c.661C>A p.R221R Substitution - coding silent 4:53498670-53498670 - B88-Tumor COSM254788 c.708C>G p.I236M Substitution - Missense 4:53496377-53496377 - 587350 COSM1213529 c.193C>A p.L65I Substitution - Missense 4:53573810-53573810 - sysucc-1317T COSM5450004 c.217G>A p.D73N Substitution - Missense 4:53573786-53573786 - ATL058 COSM5709272 c.721G>T p.A241S Substitution - Missense 4:53507371-53507371 - TCGA-EE-A3AF-06 COSM3604466 c.1153G>C p.G385R Substitution - Missense 4:53481764-53481764 - ATL047 COSM3917917 c.745G>A p.E249K Substitution - Missense 4:53507347-53507347 - YUOTHO COSM5401317 c.1643G>A p.R548K Substitution - Missense 4:53478585-53478585 - TCGA-EE-A3J5-06 COSM3604471 c.1171G>A p.E391K Substitution - Missense 4:53496202-53496202 - TCGA-AP-A059-01 COSM1594564 c.172C>T p.H58Y Substitution - Missense 4:53573831-53573831 - LUAD-S01346 COSM397802 c.346C>T p.Q116* Substitution - Nonsense 4:53573657-53573657 - Pat_41_B COSM5866511 c.1487C>T p.P496L Substitution - Missense 4:53478741-53478741 - 260211 COSM3725662 c.895G>T p.V299F Substitution - Missense 4:53498724-53498724 - TARGET-30-PASTKC COSM1285947 c.1449G>A p.W483* Substitution - Nonsense 4:53481756-53481756 - CSCC-37-T COSM1056000 c.1266C>T p.L422L Substitution - coding silent 4:53478674-53478674 - QC2-36-T2 COSM5176449 c.2116G>T p.A706S Substitution - Missense 4:53460978-53460978 - I2L-P24Tb-Tumor-Organoid COSM5356033 c.1208A>G p.E403G Substitution - Missense 4:53496165-53496165 - PCSI_0083_Pa_P_526 COSM3781166 c.1090G>A p.V364M Substitution - Missense 4:53481827-53481827 - PCSI_0083_Pa_P_526 COSM3781165 c.1378G>A p.V460M Substitution - Missense 4:53481827-53481827 - ccRCC-55 COSM1659480 c.596A>G p.D199G Substitution - Missense 4:53508012-53508012 - PTC_285 COSM5958924 c.1764-3_1764-2insT p.? Unknown 4:53461044-53461045 - GC_340T-GC_340N COSM253019 c.1764-3delT p.? Unknown 4:53461045-53461045 - YUOTHO COSM5401318 c.1355G>A p.R452K Substitution - Missense 4:53478585-53478585 - T3724 COSM4698324 c.670delA p.I224fs*1 Deletion - Frameshift 4:53507422-53507422 - BN05T COSM1618908 c.1056G>A p.L352L Substitution - coding silent 4:53496029-53496029 - TARGET-30-PASTKC COSM1285948 c.1161G>A p.W387* Substitution - Nonsense 4:53481756-53481756 - CSCC-11-T COSM4498127 c.224C>T p.S75F Substitution - Missense 4:53508096-53508096 - OV207 COSM253019 c.1764-3delT p.? Unknown 4:53461045-53461045 - B15 COSM254786 c.1276G>A p.V426I Substitution - Missense 4:53478664-53478664 - TCGA-D1-A15X-01 COSM1056000 c.1266C>T p.L422L Substitution - coding silent 4:53478674-53478674 - TCGA-A2-A0T5-01 COSM3825973 c.1557A>C p.P519P Substitution - coding silent 4:53476800-53476800 - TCGA-AX-A0J0-01 COSM1594571 c.1413C>A p.I471I Substitution - coding silent 4:53481792-53481792 - TCGA-AP-A051-01 COSM1056010 c.487+1G>A p.? Unknown 4:53507316-53507316 - B15 COSM1757115 c.1564G>A p.V522I Substitution - Missense 4:53478664-53478664 - C086 COSM3917917 c.745G>A p.E249K Substitution - Missense 4:53507347-53507347 - TCGA-HT-8104-01 COSM3974934 c.2134C>T p.L712F Substitution - Missense 4:53460960-53460960 - TCGA-DA-A1HV-06 COSM3917908 c.1843G>A p.E615K Substitution - Missense 4:53460963-53460963 - TCGA-D3-A2J8-06 COSM3917919 c.539A>C p.D180A Substitution - Missense 4:53508069-53508069 - ZZUFHECRKL-G057T COSM5445576 c.621G>A p.R207R Substitution - coding silent 4:53507987-53507987 - TCGA-A5-A0G9-01 COSM1055998 c.1402G>A p.V468I Substitution - Missense 4:53476955-53476955 - PT49 COSM5934887 c.1360G>A p.G454R Substitution - Missense 4:53478580-53478580 - TCGA-AA-3492-01 COSM1430047 c.349C>T p.R117C Substitution - Missense 4:53573654-53573654 - TCGA-AX-A0J0-01 COSM1055996 c.1575A>G p.P525P Substitution - coding silent 4:53476782-53476782 - TCGA-61-1740-01 COSM1328493 c.1256G>C p.G419A Substitution - Missense 4:53478684-53478684 - Z138 COSM1741086 c.2150_2151insCTAA p.L718fs*1 Insertion - Frameshift 4:53460943-53460944 - 526LT COSM4385904 c.1764-2_1764-1insT p.? Unknown 4:53461043-53461044 - TCGA-FW-A3R5-06 COSM3917911 c.1204G>A p.D402N Substitution - Missense 4:53496169-53496169 - B65 COSM1291924 c.903C>T p.I301I Substitution - coding silent 4:53498716-53498716 - 8067203 COSM3604460 c.1463C>T p.S488L Substitution - Missense 4:53476894-53476894 - 2493722 COSM5731569 c.434A>T p.Q145L Substitution - Missense 4:53508174-53508174 - TCGA-61-1740-01 COSM1328492 c.1544G>C p.G515A Substitution - Missense 4:53478684-53478684 - 587376 COSM1213530 c.2045G>T p.R682I Substitution - Missense 4:53461441-53461441 - T2197 COSM4613113 c.1574delG p.G525fs*22 Deletion - Frameshift 4:53478654-53478654 - CH-54-T2 COSM5650964 c.1886T>A p.L629* Substitution - Nonsense 4:53476759-53476759 - CHC1207T COSM4800023 c.426T>C p.S142S Substitution - coding silent 4:53507378-53507378 - T368 COSM4698322 c.1682T>C p.V561A Substitution - Missense 4:53476963-53476963 - TCGA-CK-5913-01 COSM1430035 c.1423C>T p.R475W Substitution - Missense 4:53476934-53476934 - Pat_01_A COSM5866516 c.526A>T p.I176F Substitution - Missense 4:53498805-53498805 - TCGA-BS-A0UL-01 COSM1154355 c.1195C>T p.R399C Substitution - Missense 4:53496178-53496178 - TCGA-BR-6452-01 COSM4125112 c.136C>T p.Q46* Substitution - Nonsense 4:53573867-53573867 - 8067203 COSM3604459 c.1751C>T p.S584L Substitution - Missense 4:53476894-53476894 - TCGA-AA-3994-01 COSM298112 c.8C>T p.A3V Substitution - Missense 4:53557958-53557958 - KM12 COSM1154354 c.1690G>A p.V564I Substitution - Missense 4:53476955-53476955 - TCGA-D7-6526-01 COSM4125109 c.678C>A p.D226E Substitution - Missense 4:53498653-53498653 - CSCC-31-T COSM4542523 c.31G>A p.E11K Substitution - Missense 4:53573972-53573972 - YUAKER COSM1694401 c.29C>T p.P10L Substitution - Missense 4:53557937-53557937 - TCGA-AA-3966-01 COSM272892 c.1063G>A p.A355T Substitution - Missense 4:53481854-53481854 - PTC-10C COSM4159106 c.1873A>C p.M625L Substitution - Missense 4:53476772-53476772 - 08-P054 COSM4585102 c.231G>A p.M77I Substitution - Missense 4:53573772-53573772 - B47 COSM1753769 c.797G>A p.R266H Substitution - Missense 4:53496288-53496288 - YUKLAB COSM1694399 c.415G>A p.D139N Substitution - Missense 4:53508193-53508193 - TCGA-FD-A3SN-01 COSM173828 c.326G>A p.R109Q Substitution - Missense 4:53507994-53507994 - TCGA-18-3409-01 COSM1149923 c.109G>A p.D37N Substitution - Missense 4:53573894-53573894 - HCT8 COSM4625316 c.37C>G p.L13V Substitution - Missense 4:53573966-53573966 - 2113178 COSM1671023 c.1924C>T p.R642* Substitution - Nonsense 4:53461562-53461562 - Pat_05_A COSM5866517 c.479C>T p.P160L Substitution - Missense 4:53508129-53508129 - TCGA-FD-A3SN-01 COSM3775888 c.614G>A p.R205Q Substitution - Missense 4:53507994-53507994 - HT115 COSM3301206 c.1256G>A p.R419Q Substitution - Missense 4:53496117-53496117 - B47-Tumor COSM1753769 c.797G>A p.R266H Substitution - Missense 4:53496288-53496288 - LIM1899 COSM4613113 c.1574delG p.G525fs*22 Deletion - Frameshift 4:53478654-53478654 - B88 COSM254788 c.708C>G p.I236M Substitution - Missense 4:53496377-53496377 - KM12 COSM1055998 c.1402G>A p.V468I Substitution - Missense 4:53476955-53476955 - CSCC-11-T COSM4526188 c.1090G>T p.V364L Substitution - Missense 4:53481827-53481827 - TCGA-JW-A5VL-01 COSM3604467 c.1374C>T p.L458L Substitution - coding silent 4:53481831-53481831 - PCSI_0171_Pa_P_526 COSM4964308 c.2138A>C p.K713T Substitution - Missense 4:53460956-53460956 - TCGA-D8-A1XK-01 COSM3825974 c.816T>A p.I272I Substitution - coding silent 4:53498803-53498803 - OSCC-GB_00020111 COSM3714926 c.858C>G p.L286L Substitution - coding silent 4:53498761-53498761 - TCGA-A5-A0GB-01 COSM1154356 c.602G>A p.G201D Substitution - Missense 4:53508006-53508006 - YULAN COSM1486005 c.1405G>A p.E469K Substitution - Missense 4:53476952-53476952 - 260211 COSM3725665 c.606G>T p.L202L Substitution - coding silent 4:53498725-53498725 - TCGA-10-0931-01 COSM80113 c.1137C>T p.A379A Substitution - coding silent 4:53481780-53481780 - BN24T COSM1618906 c.2052-3delT p.? Unknown 4:53461045-53461045 - I2L-P24Tb-Tumor-Biopsy COSM5356033 c.1208A>G p.E403G Substitution - Missense 4:53496165-53496165 - 250LT COSM4385903 c.2052-2_2052-1insT p.? Unknown 4:53461043-53461044 - TCGA-AX-A0J0-01 COSM1056002 c.1125C>A p.I375I Substitution - coding silent 4:53481792-53481792 - T2269 COSM3604473 c.922C>T p.R308C Substitution - Missense 4:53498697-53498697 - TCGA-AB-2939-03 COSM1319332 c.966C>T p.D322D Substitution - coding silent 4:53498653-53498653 - TCGA-D8-A1XK-01 COSM3825975 c.528T>A p.I176I Substitution - coding silent 4:53498803-53498803 - D01 COSM3917907 c.2131G>A p.E711K Substitution - Missense 4:53460963-53460963 - BN05 COSM1618907 c.1344G>A p.L448L Substitution - coding silent 4:53496029-53496029 - BK0067 COSM1753769 c.797G>A p.R266H Substitution - Missense 4:53496288-53496288 - TCGA-EE-A3J5-06 COSM3604472 c.883G>A p.E295K Substitution - Missense 4:53496202-53496202 - TCGA-BR-4361-01 COSM4125106 c.2112C>T p.C704C Substitution - coding silent 4:53460982-53460982 - 53M COSM5594830 c.420G>A p.R140R Substitution - coding silent 4:53508188-53508188 - TCGA-FV-A3R2-01 COSM4929315 c.711G>C p.G237G Substitution - coding silent 4:53507381-53507381 - TCGA-BF-A3DL-01 COSM3917917 c.745G>A p.E249K Substitution - Missense 4:53507347-53507347 - 2T COSM3714927 c.570C>G p.L190L Substitution - coding silent 4:53498761-53498761 - TCGA-EB-A24D-01 COSM3604478 c.235G>A p.D79N Substitution - Missense 4:53508085-53508085 - TCGA-CM-5862-01 COSM1430041 c.1157A>C p.K386T Substitution - Missense 4:53496216-53496216 - TCGA-AZ-4315-01 COSM1430044 c.716T>C p.V239A Substitution - Missense 4:53496369-53496369 - TCGA-D9-A3Z1-06 COSM3604475 c.897C>T p.V299V Substitution - coding silent 4:53498722-53498722 - TCGA-D9-A3Z1-06 COSM3604476 c.609C>T p.V203V Substitution - coding silent 4:53498722-53498722 - TCGA-C8-A138-01 COSM1486008 c.1102C>A p.Q368K Substitution - Missense 4:53496271-53496271 - TCGA-FW-A3R5-06 COSM3917912 c.916G>A p.D306N Substitution - Missense 4:53496169-53496169 - TCGA-FW-A3R5-06 COSM3917916 c.556C>T p.P186S Substitution - Missense 4:53498775-53498775 - TCGA-43-5668-01 COSM1149922 c.1752G>C p.S584S Substitution - coding silent 4:53476893-53476893 - TCGA-A7-A4SE-01 COSM3825970 c.1958T>C p.I653T Substitution - Missense 4:53461528-53461528 - Br27P COSM40262 c.1094C>T p.S365F Substitution - Missense 4:53481823-53481823 - LUAD-5V8LT COSM402442 c.262T>A p.Y88N Substitution - Missense 4:53508058-53508058 - TCGA-FW-A3R5-06 COSM3917915 c.844C>T p.P282S Substitution - Missense 4:53498775-53498775 - CSCC-10-T COSM4505522 c.406C>T p.R136* Substitution - Nonsense 4:53507398-53507398 - 88_T COSM3946431 c.2032T>C p.Y678H Substitution - Missense 4:53461454-53461454 - OSCC-GB_00120111 COSM3714881 c.316C>A p.P106T Substitution - Missense 4:53573687-53573687 - B65-Tumor COSM1291924 c.903C>T p.I301I Substitution - coding silent 4:53498716-53498716 - TCGA-AX-A0J0-01 COSM1594572 c.1863A>G p.P621P Substitution - coding silent 4:53476782-53476782 - TCGA-EB-A41A-01 COSM3604463 c.1571G>A p.G524E Substitution - Missense 4:53478657-53478657 - TCGA-EE-A2GC-06 COSM3604473 c.922C>T p.R308C Substitution - Missense 4:53498697-53498697 - CSCC-27-T COSM4464504 c.1337C>G p.A446G Substitution - Missense 4:53496036-53496036 - SJAMLM7006 COSM3301198 c.1393C>T p.R465W Substitution - Missense 4:53481812-53481812 - TCGA-C8-A138-01 COSM447941 c.814C>A p.Q272K Substitution - Missense 4:53496271-53496271 - TCGA-43-3920-01 COSM734189 c.1859T>C p.I620T Substitution - Missense 4:53460947-53460947 - CH-54-T2 COSM5650965 c.1598T>A p.L533* Substitution - Nonsense 4:53476759-53476759 - CSCC-37-T COSM1256578 c.1554C>T p.L518L Substitution - coding silent 4:53478674-53478674 - B10 COSM1753767 c.1733T>C p.L578S Substitution - Missense 4:53476912-53476912 - Pat_01_B COSM5866515 c.814A>T p.I272F Substitution - Missense 4:53498805-53498805 - T3091 COSM4698321 c.1488C>T p.V496V Substitution - coding silent 4:53476869-53476869 - I2L-P24Tb-Tumor-Biopsy COSM5356034 c.920A>G p.E307G Substitution - Missense 4:53496165-53496165 - TCGA-FV-A3R2-01 COSM4929316 c.423G>C p.G141G Substitution - coding silent 4:53507381-53507381 - TCGA-EE-A29D-06 COSM3604459 c.1751C>T p.S584L Substitution - Missense 4:53476894-53476894 - LUAD-TLLGS COSM347643 c.1536C>A p.D512E Substitution - Missense 4:53476821-53476821 - TCGA-D1-A17Q-01 COSM1055994 c.1624G>T p.D542Y Substitution - Missense 4:53461574-53461574 - STC252 COSM5060388 c.567C>T p.S189S Substitution - coding silent 4:53498764-53498764 - TCGA-EW-A3E8-01 COSM3825976 c.705G>C p.K235N Substitution - Missense 4:53507387-53507387 - TCGA-EB-A41A-01 COSM3604464 c.1283G>A p.G428E Substitution - Missense 4:53478657-53478657 - TCGA-CK-5912-01 COSM1430045 c.873G>A p.V291V Substitution - coding silent 4:53498746-53498746 - TCGA-AP-A051-01 COSM1056018 c.103G>A p.A35T Substitution - Missense 4:53508217-53508217 - TCGA-EB-A24D-01 COSM3604477 c.523G>A p.D175N Substitution - Missense 4:53508085-53508085 - TCGA-IZ-A6M9-01 COSM3993716 c.1743A>G p.T581T Substitution - coding silent 4:53476902-53476902 - SJAMLM7006 COSM3301199 c.1105C>T p.R369W Substitution - Missense 4:53481812-53481812 - I2L-P24Tb-Tumor-Organoid COSM5356034 c.920A>G p.E307G Substitution - Missense 4:53496165-53496165 - TCGA-AB-2939-03 COSM1319333 c.678C>T p.D226D Substitution - coding silent 4:53498653-53498653 - TCGA-24-2260-01 COSM80114 c.9G>A p.A3A Substitution - coding silent 4:53557957-53557957 - TCGA-FW-A3R5-06 COSM3917917 c.745G>A p.E249K Substitution - Missense 4:53507347-53507347 - Br27P COSM40263 c.1279G>A p.A427T Substitution - Missense 4:53478661-53478661 - TCGA-AA-A010-01 COSM282460 c.401T>C p.V134A Substitution - Missense 4:53507403-53507403 - I2L-P24Ta-Tumor-Biopsy COSM5356033 c.1208A>G p.E403G Substitution - Missense 4:53496165-53496165 - TCGA-A5-A0G9-01 COSM1154354 c.1690G>A p.V564I Substitution - Missense 4:53476955-53476955 - TCGA-AX-A0J1-01 COSM1594566 c.423G>A p.K141K Substitution - coding silent 4:53508185-53508185 - BHY COSM4592521 c.78C>G p.F26L Substitution - Missense 4:53557888-53557888 - CSCC-44-T COSM1694397 c.482C>T p.S161F Substitution - Missense 4:53508126-53508126 - 250LT COSM4385904 c.1764-2_1764-1insT p.? Unknown 4:53461043-53461044 - PT14_1 COSM5896742 c.456G>A p.R152R Substitution - coding silent 4:53507348-53507348 - CSCC-44-T COSM1694398 c.194C>T p.S65F Substitution - Missense 4:53508126-53508126 - TCGA-AX-A0J1-01 COSM1056016 c.135G>A p.K45K Substitution - coding silent 4:53508185-53508185 - TCGA-D3-A2J8-06 COSM3917920 c.251A>C p.D84A Substitution - Missense 4:53508069-53508069 - 587238 COSM1213528 c.752C>A p.P251H Substitution - Missense 4:53496333-53496333 - YULAPE COSM1694398 c.194C>T p.S65F Substitution - Missense 4:53508126-53508126 - Pat_05_A COSM5866518 c.191C>T p.P64L Substitution - Missense 4:53508129-53508129 - PCSI_0087_Pa_P COSM3380947 c.114C>T p.Y38Y Substitution - coding silent 4:53508206-53508206 - TCGA-EM-A2P2-01 COSM3373512 c.132C>G p.C44W Substitution - Missense 4:53573871-53573871 - TCGA-BR-4184-01 COSM4125110 c.882C>T p.S294S Substitution - coding silent 4:53498737-53498737 - PCSI_0087_Pa_X COSM3380947 c.114C>T p.Y38Y Substitution - coding silent 4:53508206-53508206 - BD165T COSM3993720 c.1242C>T p.G414G Substitution - coding silent 4:53496131-53496131 - 234 COSM3730903 c.1688G>T p.G563V Substitution - Missense 4:53476957-53476957 - ESO-D76 COSM1056000 c.1266C>T p.L422L Substitution - coding silent 4:53478674-53478674 - 587376 COSM1213531 c.1757G>T p.R586I Substitution - Missense 4:53461441-53461441 - I2L-P24Ta-Tumor-Organoid COSM5356033 c.1208A>G p.E403G Substitution - Missense 4:53496165-53496165 - Pat_41_B COSM5866512 c.1199C>T p.P400L Substitution - Missense 4:53478741-53478741 - PCSI_0087_Pa_X COSM3380946 c.402C>T p.Y134Y Substitution - coding silent 4:53508206-53508206 - P115 COSM1618906 c.2052-3delT p.? Unknown 4:53461045-53461045 - TCGA-B9-4114-01 COSM3993718 c.1720G>A p.A574T Substitution - Missense 4:53476925-53476925 - TCGA-FW-A3R5-06 COSM3917913 c.962G>A p.G321E Substitution - Missense 4:53498657-53498657 - CSCC-44-T COSM4461511 c.120C>T p.I40I Substitution - coding silent 4:53573883-53573883 - TCGA-BR-4361-01 COSM4125107 c.1824C>T p.C608C Substitution - coding silent 4:53460982-53460982 - TCGA-AP-A059-01 COSM1594567 c.552C>T p.Y184Y Substitution - coding silent 4:53508056-53508056 - TCGA-B9-4114-01 COSM3993719 c.1432G>A p.A478T Substitution - Missense 4:53476925-53476925 - TCGA-FS-A4F0-06 COSM734188 c.1464G>C p.S488S Substitution - coding silent 4:53476893-53476893 - CSCC-32-T COSM4500158 c.270C>T p.S90S Substitution - coding silent 4:53508050-53508050 - J46_T COSM3946434 c.557C>A p.P186H Substitution - Missense 4:53498774-53498774 - B15-Tumor COSM254786 c.1276G>A p.V426I Substitution - Missense 4:53478664-53478664 - HT115 COSM3301207 c.968G>A p.R323Q Substitution - Missense 4:53496117-53496117 - STC252 COSM5060387 c.855C>T p.S285S Substitution - coding silent 4:53498764-53498764 - T578 COSM4698318 c.2125C>T p.L709L Substitution - coding silent 4:53460969-53460969 - ATL047 COSM3917918 c.457G>A p.E153K Substitution - Missense 4:53507347-53507347 - 40M COSM3917917 c.745G>A p.E249K Substitution - Missense 4:53507347-53507347 - TCGA-EE-A2GO-06 COSM3604467 c.1374C>T p.L458L Substitution - coding silent 4:53481831-53481831 - TCGA-AP-A056-01 COSM298112 c.8C>T p.A3V Substitution - Missense 4:53557958-53557958 - 0087_CRUK_PC_0087_T1_DNA COSM5151824 c.1604G>A p.R535Q Substitution - Missense 4:53476753-53476753 - TCGA-EE-A3JI-06 COSM3604480 c.227C>T p.P76L Substitution - Missense 4:53573776-53573776 - 88_T COSM3946432 c.1744T>C p.Y582H Substitution - Missense 4:53461454-53461454 - 08-237 COSM305581 c.746G>A p.R249Q Substitution - Missense 4:53496339-53496339 - B10-Tumor COSM1753767 c.1733T>C p.L578S Substitution - Missense 4:53476912-53476912 - LUAD-NYU259 COSM371910 c.1518C>T p.S506S Substitution - coding silent 4:53476839-53476839 - TCGA-EE-A2MJ-06 COSM3604458 c.1534G>A p.D512N Substitution - Missense 4:53476823-53476823 - Z138 COSM1741087 c.1862_1863insCTAA p.L622fs*1 Insertion - Frameshift 4:53460943-53460944 - TCGA-EW-A3E8-01 COSM3825977 c.417G>C p.K139N Substitution - Missense 4:53507387-53507387 - YULAN COSM1486004 c.1693G>A p.E565K Substitution - Missense 4:53476952-53476952 - A4 COSM4385904 c.1764-2_1764-1insT p.? Unknown 4:53461043-53461044 - A4 COSM4385903 c.2052-2_2052-1insT p.? Unknown 4:53461043-53461044 - TCGA-EE-A2MJ-06 COSM3604457 c.1822G>A p.D608N Substitution - Missense 4:53476823-53476823 - TCGA-JW-A5VL-01 COSM3604468 c.1086C>T p.L362L Substitution - coding silent 4:53481831-53481831 - LUAD-NYU284 COSM373154 c.916G>T p.D306Y Substitution - Missense 4:53496169-53496169 - TCGA-AC-A23C-01 COSM1486005 c.1405G>A p.E469K Substitution - Missense 4:53476952-53476952 - TCGA-FW-A3R5-06 COSM3917918 c.457G>A p.E153K Substitution - Missense 4:53507347-53507347 - TCGA-CM-5862-01 COSM1430042 c.869A>C p.K290T Substitution - Missense 4:53496216-53496216 - TCGA-IZ-A6M9-01 COSM3993717 c.1455A>G p.T485T Substitution - coding silent 4:53476902-53476902 - TCGA-AP-A059-01 COSM1056014 c.264C>T p.Y88Y Substitution - coding silent 4:53508056-53508056 - TCGA-BF-A3DL-01 COSM3917918 c.457G>A p.E153K Substitution - Missense 4:53507347-53507347 - CSCC-11-T COSM4526187 c.1378G>T p.V460L Substitution - Missense 4:53481827-53481827 - CRC-12T COSM5480738 c.24C>T p.N8N Substitution - coding silent 4:53573979-53573979 - TCGA-D1-A15X-01 COSM1256578 c.1554C>T p.L518L Substitution - coding silent 4:53478674-53478674 - B15-Tumor COSM1757115 c.1564G>A p.V522I Substitution - Missense 4:53478664-53478664 - BD114T COSM5502857 c.1822G>T p.D608Y Substitution - Missense 4:53476823-53476823 - B65 COSM1291925 c.615C>T p.I205I Substitution - coding silent 4:53498716-53498716 - 234 COSM253019 c.1764-3delT p.? Unknown 4:53461045-53461045 - TCGA-D7-6526-01 COSM4125108 c.966C>A p.D322E Substitution - Missense 4:53498653-53498653 - 2T COSM3714926 c.858C>G p.L286L Substitution - coding silent 4:53498761-53498761 - B10 COSM254785 c.1445T>C p.L482S Substitution - Missense 4:53476912-53476912 - PCSI_0087_Pa_P COSM3380946 c.402C>T p.Y134Y Substitution - coding silent 4:53508206-53508206 - Pat_41_B COSM5866514 c.847A>G p.S283G Substitution - Missense 4:53496238-53496238 - 234 COSM1618906 c.2052-3delT p.? Unknown 4:53461045-53461045 - BN24T COSM253019 c.1764-3delT p.? Unknown 4:53461045-53461045 - TCGA-FW-A3R5-06 COSM3917914 c.674G>A p.G225E Substitution - Missense 4:53498657-53498657 - 0087_CRUK_PC_0087_T1_DNA COSM5151823 c.1892G>A p.R631Q Substitution - Missense 4:53476753-53476753 - ESCC_BICR_033T COSM3301205 c.995G>A p.R332H Substitution - Missense 4:53496090-53496090 - CHC961T COSM4950858 c.1087G>T p.V363F Substitution - Missense 4:53481830-53481830 - TCGA-EE-A2GR-06 COSM3604470 c.1018G>A p.D340N Substitution - Missense 4:53496067-53496067 - B88-Tumor COSM1753770 c.996C>G p.I332M Substitution - Missense 4:53496377-53496377 - TCGA-D3-A3MU-06 COSM3604479 c.254A>C p.Q85P Substitution - Missense 4:53573749-53573749 - PCSI_0171_Pa_P_526 COSM4964309 c.1850A>C p.K617T Substitution - Missense 4:53460956-53460956 - TCGA-CK-5912-01 COSM1430046 c.585G>A p.V195V Substitution - coding silent 4:53498746-53498746 - B15 COSM254786 c.1276G>A p.V426I Substitution - Missense 4:53478664-53478664 - TCGA-A5-A0GB-01 COSM1056012 c.314G>A p.G105D Substitution - Missense 4:53508006-53508006 - TCGA-AB-2803-03 COSM1319331 c.238G>A p.E80K Substitution - Missense 4:53508082-53508082 - BD110T COSM1618906 c.2052-3delT p.? Unknown 4:53461045-53461045 - TCGA-BR-8680-01 COSM1486004 c.1693G>A p.E565K Substitution - Missense 4:53476952-53476952 - TCGA-A2-A0T5-01 COSM3825972 c.1845A>C p.P615P Substitution - coding silent 4:53476800-53476800 - P115 COSM253019 c.1764-3delT p.? Unknown 4:53461045-53461045 - CSCC-32-T COSM4500157 c.558C>T p.S186S Substitution - coding silent 4:53508050-53508050 - TCGA-DA-A1HV-06 COSM3917907 c.2131G>A p.E711K Substitution - Missense 4:53460963-53460963 - B10-Tumor COSM254785 c.1445T>C p.L482S Substitution - Missense 4:53476912-53476912 - RK067_C01 COSM1633714 c.1146G>A p.V382V Substitution - coding silent 4:53496227-53496227 - ESCC_116 COSM5639898 c.22G>T p.V8F Substitution - Missense 4:53557944-53557944 - CHC961T COSM4950858 c.1087G>T p.V363F Substitution - Missense 4:53481830-53481830 - ESO-D76 COSM1256578 c.1554C>T p.L518L Substitution - coding silent 4:53478674-53478674 - TCGA-FW-A3R5-06 COSM3917909 c.1797A>G p.E599E Substitution - coding silent 4:53476848-53476848 - TCGA-D8-A1XL-01 COSM1486007 c.833G>C p.R278T Substitution - Missense 4:53496252-53496252 - T368 COSM4698323 c.1394T>C p.V465A Substitution - Missense 4:53476963-53476963 - C0086T COSM4153490 c.2106T>A p.H702Q Substitution - Missense 4:53460988-53460988 - J46_T COSM3946433 c.845C>A p.P282H Substitution - Missense 4:53498774-53498774 - MOLT-4 COSM1671023 c.1924C>T p.R642* Substitution - Nonsense 4:53461562-53461562 - TCGA-BS-A0UV-01 COSM1594570 c.918T>G p.I306M Substitution - Missense 4:53498701-53498701 - TCGA-A8-A09I-01 COSM447940 c.835C>T p.P279S Substitution - Missense 4:53496250-53496250 - 40M COSM3917918 c.457G>A p.E153K Substitution - Missense 4:53507347-53507347 - B10 COSM254785 c.1445T>C p.L482S Substitution - Missense 4:53476912-53476912 - BN05T COSM1618907 c.1344G>A p.L448L Substitution - coding silent 4:53496029-53496029 - 12T COSM3714881 c.316C>A p.P106T Substitution - Missense 4:53573687-53573687 - PT49 COSM5934886 c.1648G>A p.G550R Substitution - Missense 4:53478580-53478580 - TCGA-AZ-4315-01 COSM1430043 c.1004T>C p.V335A Substitution - Missense 4:53496369-53496369 - PT14_1 COSM5896741 c.744G>A p.R248R Substitution - coding silent 4:53507348-53507348 - TCGA-FS-A4F0-06 COSM1149922 c.1752G>C p.S584S Substitution - coding silent 4:53476893-53476893 - TCGA-AP-A059-01 COSM1594569 c.892C>T p.L298L Substitution - coding silent 4:53498727-53498727 - CSCC-11-T COSM4498126 c.512C>T p.S171F Substitution - Missense 4:53508096-53508096 - 260211 COSM3725663 c.607G>T p.V203F Substitution - Missense 4:53498724-53498724 - 587238 COSM1213527 c.1040C>A p.P347H Substitution - Missense 4:53496333-53496333 - BD110T COSM253019 c.1764-3delT p.? Unknown 4:53461045-53461045 - TCGA-BS-A0UL-01 COSM1056004 c.907C>T p.R303C Substitution - Missense 4:53496178-53496178 - BD165T COSM3993721 c.954C>T p.G318G Substitution - coding silent 4:53496131-53496131 - TCGA-FW-A3R5-06 COSM3917910 c.1509A>G p.E503E Substitution - coding silent 4:53476848-53476848 - Pat_01_B COSM5866516 c.526A>T p.I176F Substitution - Missense 4:53498805-53498805 - I2L-P24Ta-Tumor-Organoid COSM5356034 c.920A>G p.E307G Substitution - Missense 4:53496165-53496165 - CSCC-27-T COSM4464505 c.1049C>G p.A350G Substitution - Missense 4:53496036-53496036 - 2493722 COSM5731599 c.435A>T p.Q145H Substitution - Missense 4:53508173-53508173 - TCGA-AA-3713-01 COSM1430033 c.1895delT p.L632fs? Deletion - Frameshift 4:53460911-53460911 - D01 COSM3917908 c.1843G>A p.E615K Substitution - Missense 4:53460963-53460963 - TCGA-BS-A0UV-01 COSM1056006 c.630T>G p.I210M Substitution - Missense 4:53498701-53498701 - BK0067 COSM1753768 c.1085G>A p.R362H Substitution - Missense 4:53496288-53496288 - CHEWS002 COSM4585101 c.149A>T p.D50V Substitution - Missense 4:53508171-53508171 - YUKLAB COSM1694400 c.127G>A p.D43N Substitution - Missense 4:53508193-53508193 - SJAMLM7006 COSM3301198 c.1393C>T p.R465W Substitution - Missense 4:53481812-53481812 - TCGA-D8-A1XW-01 COSM1486011 c.282C>T p.D94D Substitution - coding silent 4:53508038-53508038 - TCGA-HT-8104-01 COSM3974935 c.1846C>T p.L616F Substitution - Missense 4:53460960-53460960 - 010-0028-02TD COSM5416822 c.1291T>C p.S431P Substitution - Missense 4:53478649-53478649 - T3724 COSM4698325 c.382delA p.I128fs*1 Deletion - Frameshift 4:53507422-53507422 - TCGA-BH-A0E6-01 COSM1486009 c.949C>A p.R317R Substitution - coding silent 4:53498670-53498670 - TCGA-BR-4184-01 COSM4125111 c.594C>T p.S198S Substitution - coding silent 4:53498737-53498737 - 260211 COSM3725664 c.894G>T p.L298L Substitution - coding silent 4:53498725-53498725 - TCGA-EE-A2MI-06 COSM3604462 c.1306G>A p.D436N Substitution - Missense 4:53478634-53478634 - T578 COSM4698319 c.1837C>T p.L613L Substitution - coding silent 4:53460969-53460969 - Pat_32_A COSM5866519 c.458C>T p.A153V Substitution - Missense 4:53508150-53508150 - TCGA-43-3920-01 COSM1149921 c.2147T>C p.I716T Substitution - Missense 4:53460947-53460947 - CLL047 COSM1291924 c.903C>T p.I301I Substitution - coding silent 4:53498716-53498716 - RK067_C01 COSM1633715 c.858G>A p.V286V Substitution - coding silent 4:53496227-53496227 - 2113178 COSM1671024 c.1636C>T p.R546* Substitution - Nonsense 4:53461562-53461562 - HCT15 COSM4625316 c.37C>G p.L13V Substitution - Missense 4:53573966-53573966 - RK268_C01 COSM4945406 c.571G>C p.G191R Substitution - Missense 4:53508037-53508037 - YULAPE COSM1694397 c.482C>T p.S161F Substitution - Missense 4:53508126-53508126 - T2197 COSM4613114 c.1286delG p.G429fs*22 Deletion - Frameshift 4:53478654-53478654 - CSCC-38-T COSM4504247 c.65C>T p.S22F Substitution - Missense 4:53573938-53573938 - Pat_05_B COSM5866517 c.479C>T p.P160L Substitution - Missense 4:53508129-53508129 - TCGA-AP-A059-01 COSM1056008 c.604C>T p.L202L Substitution - coding silent 4:53498727-53498727 - CHC961T COSM4950857 c.1375G>T p.V459F Substitution - Missense 4:53481830-53481830 - 2493722 COSM5731600 c.147A>T p.Q49H Substitution - Missense 4:53508173-53508173 - OSCC-GB_00020111 COSM3714927 c.570C>G p.L190L Substitution - coding silent 4:53498761-53498761 - CHEWS002 COSM4585100 c.437A>T p.D146V Substitution - Missense 4:53508171-53508171 - TCGA-BR-8680-01 COSM1486005 c.1405G>A p.E469K Substitution - Missense 4:53476952-53476952 - N635T COSM236477 c.817G>A p.A273T Substitution - Missense 4:53496268-53496268 - TCGA-D8-A1XL-01 COSM1486006 c.1121G>C p.R374T Substitution - Missense 4:53496252-53496252 - PTC_285 COSM5958923 c.2052-3_2052-2insT p.? Unknown 4:53461044-53461045 - CLL047 COSM1291925 c.615C>T p.I205I Substitution - coding silent 4:53498716-53498716 - TCGA-AA-3713-01 COSM1430032 c.2183delT p.L728fs? Deletion - Frameshift 4:53460911-53460911 - DLD1 COSM4625314 c.794A>T p.H265L Substitution - Missense 4:53498825-53498825 - TCGA-Q1-A73O-01 COSM4836051 c.282C>T p.V94V Substitution - coding silent 4:53573721-53573721 - RK268_C01 COSM4945407 c.283G>C p.G95R Substitution - Missense 4:53508037-53508037 - 2493722 COSM5731570 c.146A>T p.Q49L Substitution - Missense 4:53508174-53508174 - DLD1 COSM4625316 c.37C>G p.L13V Substitution - Missense 4:53573966-53573966 - TCGA-AC-A23C-01 COSM1486004 c.1693G>A p.E565K Substitution - Missense 4:53476952-53476952 - S02294 COSM5688881 c.544C>G p.P182A Substitution - Missense 4:53508064-53508064 - BD87T COSM3301214 c.1025G>A p.R342H Substitution - Missense 4:53496348-53496348 - HT115 COSM3301170 c.2144G>T p.R715I Substitution - Missense 4:53460950-53460950 - LIM1899 COSM4613114 c.1286delG p.G429fs*22 Deletion - Frameshift 4:53478654-53478654 - ATL058 COSM5709273 c.433G>T p.A145S Substitution - Missense 4:53507371-53507371 - LUAD-S01306 COSM343668 c.497G>T p.R166M Substitution - Missense 4:53498834-53498834 - UM-SCC-2 COSM4592521 c.78C>G p.F26L Substitution - Missense 4:53557888-53557888 - I2L-P24Ta-Tumor-Biopsy COSM5356034 c.920A>G p.E307G Substitution - Missense 4:53496165-53496165 - TCGA-AB-2803-03 COSM1319330 c.526G>A p.E176K Substitution - Missense 4:53508082-53508082 - TCGA-AP-A051-01 COSM1594568 c.775+1G>A p.? Unknown 4:53507316-53507316 - TCGA-HC-7738-01 COSM4392508 c.117C>T p.L39L Substitution - coding silent 4:53573886-53573886 - TCGA-EE-A2MI-06 COSM3604461 c.1594G>A p.D532N Substitution - Missense 4:53478634-53478634 -

Mutation - CGAP UNIGENE CYTOBAND OMIM SNP Hs.518760 4q12 609732

Mutation - IntOGen Mutated from(ref) Mutated to(alt) Consequence Type AA Mutation CDS Mutation Chr Pos Cancer A C IntronicSNV . c.381-32481T>G 4 54406875 CLL A G Missense p.I716T c.2147T>C 4 54327114 LUSC A G Missense p.L578S c.1733T>C 4 54343079 CLL A G SpliceDonorSNV . c.1485+2T>C 4 54347885 LUAD A - IntronicDeletion . c.1892+2delT 4 54342918 BLCA C G Missense p.G481R c.1441G>C 4 54347931 CM C G Missense p.R374T c.1121G>C 4 54362419 BRCA C G Synonymous p.S584S c.1752G>C 4 54343060 LUSC C T IntronicSNV . c.380+15562G>A 4 54424228 CM C T IntronicSNV . c.380+15666G>A 4 54424124 OV C T IntronicSNV . c.776-2673G>A 4 54367683 CLL C T Missense p.D175N c.523G>A 4 54374252 CM C T Missense p.D436N c.1306G>A 4 54362234 CM C T Missense p.D532N c.1594G>A 4 54344801 CM C T Missense p.D608N c.1822G>A 4 54342990 CM C T Missense p.E176K c.526G>A 4 54374249 AML C T Missense p.E249K c.745G>A 4 54373514 CM C T Missense p.E25K c.73G>A 4 54440097 CM C T Missense p.E391K c.1171G>A 4 54362369 CM C T Missense p.E565K c.1693G>A 4 54343119 BRCA C T Missense p.E711K c.2131G>A 4 54327130 CM C T Missense p.G201D c.602G>A 4 54374173 UCEC C T Missense p.R226Q c.677G>A 4 54373582 CM C T Missense p.V522I c.1564G>A 4 54344831 CLL C T Missense p.V564I c.1690G>A 4 54343122 UCEC C T Nonsense p.W483* c.1449G>A 4 54347923 NB C T Synonymous p.G237G c.711G>A 4 54373548 SCLC C T Synonymous p.V382V c.1146G>A 4 54362394 HC G A IntronicSNV . c.380+15605C>T 4 54424185 CM G A IntronicSNV . c.380+15665C>T 4 54424125 COREAD G A Missense p.P375S c.1123C>T 4 54362417 BRCA G A Missense p.P76L c.227C>T 4 54439943 CM G A Missense p.P76L c.227C>T 4 54439943 STAD G A Missense p.R308C c.922C>T 4 54364864 CM G A Missense p.R399C c.1195C>T 4 54362345 UCEC G A Synonymous p.A475A c.1425C>T 4 54347947 OV G A Synonymous p.D190D c.570C>T 4 54374205 BRCA G A Synonymous p.D322D c.966C>T 4 54364820 AML G A Synonymous p.I301I c.903C>T 4 54364883 CLL G A Synonymous p.L39L c.117C>T 4 54440053 PRAD G A Synonymous p.L458L c.1374C>T 4 54347998 CM G A Synonymous p.L518L c.1554C>T 4 54344841 ESCA G A Synonymous p.L718L c.2152C>T 4 54327109 HNSC G A Synonymous p.S379S c.1137C>T 4 54362403 HNSC G C Missense p.C44W c.132C>G 4 54440038 THCA G C Missense p.F107L c.321C>G 4 54439849 LUAD G C Synonymous p.L286L c.858C>G 4 54364928 HNSC G - Frameshift p.G543Efs*4 c.1626delC 4 54344769 CM G T 5-UTRSNV . c.1-53C>A 4 54440222 CLL G T Missense p.D322E c.966C>A 4 54364820 STAD G T Missense p.Q368K c.1102C>A 4 54362438 BRCA G T Synonymous p.R317R c.949C>A 4 54364837 BRCA T A IntronicSNV . c.381-24682A>T 4 54399076 PIA T C Missense p.N663S c.1988A>G 4 54327665 LUAD T G Missense p.D180A c.539A>C 4 54374236 CM T G Missense p.Q85P c.254A>C 4 54439916 CM