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 23 117033021 117033021 + Silent SNP C C T TCGA-PK-A5HB-01A-11D-A29I-10 TCGA-PK-A5HB-11A-11D-A29L-10 g.chrX:117033021C>T c.1818G>A c.(1816-1818)gtG>gtA p.V606V ACC 23 117043644 117043644 + Missense_Mutation SNP T T A TCGA-OR-A5KB-01A-11D-A30A-10 TCGA-OR-A5KB-11A-11D-A30A-10 g.chrX:117043644T>A c.986A>T c.(985-987)cAg>cTg p.Q329L ACC 23 117043657 117043657 + Missense_Mutation SNP G G T TCGA-OR-A5KB-01A-11D-A30A-10 TCGA-OR-A5KB-11A-11D-A30A-10 g.chrX:117043657G>T c.973C>A c.(973-975)Cag>Aag p.Q325K BLCA 23 117032873 117032873 + Nonstop_Mutation SNP A A C TCGA-5N-A9KI-01A-31D-A42E-08 TCGA-5N-A9KI-10A-01D-A42H-08 g.chrX:117032873A>C c.1966T>G c.(1966-1968)Taa>Gaa p.*656E BLCA 23 117033228 117033228 + Silent SNP G G C TCGA-K4-A54R-01A-11D-A26M-08 TCGA-K4-A54R-10A-01D-A26K-08 g.chrX:117033228G>C c.1611C>G c.(1609-1611)ctC>ctG p.L537L BLCA 23 117043383 117043383 + Missense_Mutation SNP G G T TCGA-XF-AAMG-01A-11D-A42E-08 TCGA-XF-AAMG-10A-01D-A42H-08 g.chrX:117043383G>T c.1247C>A c.(1246-1248)cCt>cAt p.P416H BLCA 23 117043445 117043445 + Silent SNP G G A TCGA-DK-AA6W-01A-12D-A391-08 TCGA-DK-AA6W-10A-01D-A394-08 g.chrX:117043445G>A c.1185C>T c.(1183-1185)ggC>ggT p.G395G BLCA 23 117043973 117043973 + Silent SNP G G C TCGA-2F-A9KO-01A-11D-A38G-08 TCGA-2F-A9KO-11A-12D-A38J-08 g.chrX:117043973G>C c.657C>G c.(655-657)gtC>gtG p.V219V BLCA 23 117053581 117053581 + Missense_Mutation SNP G G C TCGA-GC-A3I6-01A-11D-A20D-08 TCGA-GC-A3I6-10A-01D-A20D-08 g.chrX:117053581G>C c.473C>G c.(472-474)tCt>tGt p.S158C BLCA 23 117053608 117053608 + Missense_Mutation SNP A A G TCGA-C4-A0EZ-01A-21D-A10S-08 TCGA-C4-A0EZ-10A-01D-A10S-08 g.chrX:117053608A>G c.446T>C c.(445-447)aTt>aCt p.I149T BLCA 23 117054334 117054334 + Splice_Site SNP C C A TCGA-DK-A3IL-01A-11D-A20D-08 TCGA-DK-A3IL-10A-01D-A20D-08 g.chrX:117054334C>A c.e3-1 BRCA 23 117033137 117033137 + Missense_Mutation SNP T T G TCGA-A8-A0A6-01A-12W-A071-09 TCGA-A8-A0A6-10A-01W-A071-09 g.chrX:117033137T>G c.1702A>C c.(1702-1704)Acc>Ccc p.T568P BRCA 23 117033283 117033283 + Missense_Mutation SNP G G A TCGA-BH-A18T-01A-11D-A12B-09 TCGA-BH-A18T-11A-42D-A12B-09 g.chrX:117033283G>A c.1556C>T c.(1555-1557)gCg>gTg p.A519V BRCA 23 117033310 117033310 + Missense_Mutation SNP G G C TCGA-BH-A0AV-01A-31D-A10Y-09 TCGA-BH-A0AV-10A-01D-A110-09 g.chrX:117033310G>C c.1529C>G c.(1528-1530)cCt>cGt p.P510R BRCA 23 117044002 117044002 + Missense_Mutation SNP C C T TCGA-AN-A046-01A-21W-A050-09 TCGA-AN-A046-10A-01W-A055-09 g.chrX:117044002C>T c.628G>A c.(628-630)Gaa>Aaa p.E210K BRCA 23 117053569 117053569 + Missense_Mutation SNP T T C TCGA-D8-A1JG-01B-11D-A13L-09 TCGA-D8-A1JG-10A-01D-A13O-09 g.chrX:117053569T>C c.485A>G c.(484-486)gAc>gGc p.D162G BRCA 23 117053569 117053569 + Missense_Mutation SNP T T C TCGA-D8-A1XK-01A-21D-A14K-09 TCGA-D8-A1XK-10A-01D-A14K-09 g.chrX:117053569T>C c.485A>G c.(484-486)gAc>gGc p.D162G BRCA 23 117054217 117054217 + Missense_Mutation SNP G G C TCGA-BH-A2L8-01A-11D-A18P-09 TCGA-BH-A2L8-10A-01D-A18P-09 g.chrX:117054217G>C c.357C>G c.(355-357)ttC>ttG p.F119L CESC 23 117043457 117043457 + Silent SNP G G C TCGA-IR-A3LK-01A-12D-A20U-09 TCGA-IR-A3LK-10A-01D-A20U-09 g.chrX:117043457G>C c.1173C>G c.(1171-1173)ctC>ctG p.L391L CESC 23 117053561 117053561 + Missense_Mutation SNP G G C TCGA-DR-A0ZM-01A-12D-A10S-08 TCGA-DR-A0ZM-10A-01D-A10S-08 g.chrX:117053561G>C c.493C>G c.(493-495)Caa>Gaa p.Q165E CESC 23 117054302 117054302 + Missense_Mutation SNP A A C TCGA-EA-A3HU-01A-11D-A20U-09 TCGA-EA-A3HU-10B-01D-A20U-09 g.chrX:117054302A>C c.272T>G c.(271-273)cTt>cGt p.L91R CESC 23 117162393 117162393 + Missense_Mutation SNP C C T TCGA-DS-A5RQ-01A-11D-A28B-09 TCGA-DS-A5RQ-10A-01D-A28E-09 g.chrX:117162393C>T c.44G>A c.(43-45)cGt>cAt p.R15H COAD 23 117033340 117033340 + Missense_Mutation SNP G G T TCGA-A6-5665-01A-01D-1650-10 TCGA-A6-5665-10A-01D-1650-10 g.chrX:117033340G>T c.1499C>A c.(1498-1500)aCt>aAt p.T500N COAD 23 117035805 117035805 + Missense_Mutation SNP A A G TCGA-AZ-4315-01A-01D-1408-10 TCGA-AZ-4315-10A-01D-1408-10 g.chrX:117035805A>G c.1471T>C c.(1471-1473)Tat>Cat p.Y491H COAD 23 117043309 117043309 + Nonsense_Mutation SNP C C A TCGA-AA-A01G-01A-01W-A005-10 TCGA-AA-A01G-10A-01W-A005-10 g.chrX:117043309C>A c.1321G>T c.(1321-1323)Gga>Tga p.G441* COAD 23 117043325 117043325 + Missense_Mutation SNP G G C TCGA-A6-2677-01A-01W-0831-10 TCGA-A6-2677-10A-01W-0831-10 g.chrX:117043325G>C c.1305C>G c.(1303-1305)caC>caG p.H435Q COAD 23 117043552 117043552 + Missense_Mutation SNP G G A TCGA-AA-A01R-01A-21W-A096-10 TCGA-AA-A01R-11A-12W-A096-10 g.chrX:117043552G>A c.1078C>T c.(1078-1080)Cgc>Tgc p.R360C COAD 23 117043788 117043788 + Missense_Mutation SNP T T C TCGA-AA-3977-01A-01W-0995-10 TCGA-AA-3977-10A-01W-0999-10 g.chrX:117043788T>C c.842A>G c.(841-843)aAc>aGc p.N281S COAD 23 117053529 117053529 + Missense_Mutation SNP C C A TCGA-CK-4950-01A-01D-1719-10 TCGA-CK-4950-10A-01D-1719-10 g.chrX:117053529C>A c.525G>T c.(523-525)caG>caT p.Q175H COAD 23 117079437 117079437 + Missense_Mutation SNP C C T TCGA-AA-3984-01A-02W-0995-10 TCGA-AA-3984-10A-01W-0999-10 g.chrX:117079437C>T c.200G>A c.(199-201)cGc>cAc p.R67H COADREAD 23 117033340 117033340 + Missense_Mutation SNP G G T TCGA-A6-5665-01A-01D-1650-10 TCGA-A6-5665-10A-01D-1650-10 g.chrX:117033340G>T c.1499C>A c.(1498-1500)aCt>aAt p.T500N COADREAD 23 117035805 117035805 + Missense_Mutation SNP A A G TCGA-AZ-4315-01A-01D-1408-10 TCGA-AZ-4315-10A-01D-1408-10 g.chrX:117035805A>G c.1471T>C c.(1471-1473)Tat>Cat p.Y491H COADREAD 23 117043309 117043309 + Nonsense_Mutation SNP C C A TCGA-AA-A01G-01A-01W-A005-10 TCGA-AA-A01G-10A-01W-A005-10 g.chrX:117043309C>A c.1321G>T c.(1321-1323)Gga>Tga p.G441* COADREAD 23 117043321 117043321 + Missense_Mutation SNP T T G TCGA-F5-6464-01A-11D-1733-10 TCGA-F5-6464-10A-01D-1733-10 g.chrX:117043321T>G c.1309A>C c.(1309-1311)Agt>Cgt p.S437R COADREAD 23 117043325 117043325 + Missense_Mutation SNP G G C TCGA-A6-2677-01A-01W-0831-10 TCGA-A6-2677-10A-01W-0831-10 g.chrX:117043325G>C c.1305C>G c.(1303-1305)caC>caG p.H435Q COADREAD 23 117043380 117043380 + Missense_Mutation SNP C C T TCGA-AG-3892-01A-01W-1073-09 TCGA-AG-3892-10A-01W-1073-09 g.chrX:117043380C>T c.1250G>A c.(1249-1251)cGa>cAa p.R417Q COADREAD 23 117043552 117043552 + Missense_Mutation SNP G G A TCGA-AA-A01R-01A-21W-A096-10 TCGA-AA-A01R-11A-12W-A096-10 g.chrX:117043552G>A c.1078C>T c.(1078-1080)Cgc>Tgc p.R360C COADREAD 23 117043745 117043745 + Silent SNP G G A TCGA-AF-5654-01A-01D-1657-10 TCGA-AF-5654-10A-01D-1657-10 g.chrX:117043745G>A c.885C>T c.(883-885)taC>taT p.Y295Y COADREAD 23 117043788 117043788 + Missense_Mutation SNP T T C TCGA-AA-3977-01A-01W-0995-10 TCGA-AA-3977-10A-01W-0999-10 g.chrX:117043788T>C c.842A>G c.(841-843)aAc>aGc p.N281S COADREAD 23 117053529 117053529 + Missense_Mutation SNP C C A TCGA-CK-4950-01A-01D-1719-10 TCGA-CK-4950-10A-01D-1719-10 g.chrX:117053529C>A c.525G>T c.(523-525)caG>caT p.Q175H COADREAD 23 117079437 117079437 + Missense_Mutation SNP C C T TCGA-AA-3984-01A-02W-0995-10 TCGA-AA-3984-10A-01W-0999-10 g.chrX:117079437C>T c.200G>A c.(199-201)cGc>cAc p.R67H DLBC 23 117035896 117035896 + Silent SNP A A G TCGA-G8-6909-01A-11D-2210-10 TCGA-G8-6909-14A-01D-2210-10 g.chrX:117035896A>G c.1380T>C c.(1378-1380)tgT>tgC p.C460C ESCA 23 117033206 117033206 + Missense_Mutation SNP A A C TCGA-VR-A8EQ-01A-11D-A36J-09 TCGA-VR-A8EQ-10A-01D-A36M-09 g.chrX:117033206A>C c.1633T>G c.(1633-1635)Ttc>Gtc p.F545V ESCA 23 117033237 117033237 + Silent SNP T T C TCGA-IG-A4QS-01A-11D-A27G-09 TCGA-IG-A4QS-10A-01D-A27G-09 g.chrX:117033237T>C c.1602A>G c.(1600-1602)ggA>ggG p.G534G ESCA 23 117043737 117043737 + Missense_Mutation SNP G G A TCGA-L5-A893-01A-11D-A36J-09 TCGA-L5-A893-11A-21D-A36M-09 g.chrX:117043737G>A c.893C>T c.(892-894)aCg>aTg p.T298M GBM 23 117033178 117033178 + Missense_Mutation SNP A A T TCGA-06-0122-01A-01D-1490-08 TCGA-06-0122-10A-01D-1490-08 g.chrX:117033178A>T c.1661T>A c.(1660-1662)gTc>gAc p.V554D GBM 23 117035907 117035907 + Missense_Mutation SNP T T C TCGA-02-0003-01A-01D-1490-08 TCGA-02-0003-10A-01D-1490-08 g.chrX:117035907T>C c.1369A>G c.(1369-1371)Aca>Gca p.T457A GBM 23 117043525 117043525 + Missense_Mutation SNP A A T TCGA-19-5950-01A-11D-1696-08 TCGA-19-5950-11A-01D-1696-08 g.chrX:117043525A>T c.1105T>A c.(1105-1107)Tgg>Agg p.W369R GBM 23 117043736 117043736 + Silent SNP C C T TCGA-19-2620-01A-01D-1495-08 TCGA-19-2620-10A-01D-1495-08 g.chrX:117043736C>T c.894G>A c.(892-894)acG>acA p.T298T GBM 23 117054239 117054239 + Missense_Mutation SNP A A T TCGA-06-0878-01A-01W-0424-08 TCGA-06-0878-10A-01W-0424-08 g.chrX:117054239A>T c.335T>A c.(334-336)aTg>aAg p.M112K GBMLGG 23 117032912 117032912 + Missense_Mutation SNP T T G TCGA-HT-7601-01A-11D-2086-08 TCGA-HT-7601-10A-01D-2086-08 g.chrX:117032912T>G c.1927A>C c.(1927-1929)Aca>Cca p.T643P GBMLGG 23 117033091 117033091 + Missense_Mutation SNP G G A TCGA-DU-6392-01A-11D-1705-08 TCGA-DU-6392-10A-01D-1705-08 g.chrX:117033091G>A c.1748C>T c.(1747-1749)gCt>gTt p.A583V GBMLGG 23 117033178 117033178 + Missense_Mutation SNP A A T TCGA-06-0122-01A-01D-1490-08 TCGA-06-0122-10A-01D-1490-08 g.chrX:117033178A>T c.1661T>A c.(1660-1662)gTc>gAc p.V554D GBMLGG 23 117035907 117035907 + Missense_Mutation SNP T T C TCGA-02-0003-01A-01D-1490-08 TCGA-02-0003-10A-01D-1490-08 g.chrX:117035907T>C c.1369A>G c.(1369-1371)Aca>Gca p.T457A GBMLGG 23 117043525 117043525 + Missense_Mutation SNP A A T TCGA-19-5950-01A-11D-1696-08 TCGA-19-5950-11A-01D-1696-08 g.chrX:117043525A>T c.1105T>A c.(1105-1107)Tgg>Agg p.W369R GBMLGG 23 117043736 117043736 + Silent SNP C C T TCGA-19-2620-01A-01D-1495-08 TCGA-19-2620-10A-01D-1495-08 g.chrX:117043736C>T c.894G>A c.(892-894)acG>acA p.T298T GBMLGG 23 117043975 117043975 + Missense_Mutation SNP C C T TCGA-DU-6404-01A-11D-1705-08 TCGA-DU-6404-10A-01D-1705-08 g.chrX:117043975C>T c.655G>A c.(655-657)Gtc>Atc p.V219I GBMLGG 23 117054239 117054239 + Missense_Mutation SNP A A T TCGA-06-0878-01A-01W-0424-08 TCGA-06-0878-10A-01W-0424-08 g.chrX:117054239A>T c.335T>A c.(334-336)aTg>aAg p.M112K HNSC 23 117033123 117033123 + Silent SNP G G T TCGA-KU-A66S-01A-21D-A30E-08 TCGA-KU-A66S-10A-01D-A30H-08 g.chrX:117033123G>T c.1716C>A c.(1714-1716)gcC>gcA p.A572A HNSC 23 117033238 117033238 + Missense_Mutation SNP C C A TCGA-CN-4734-01A-01D-1434-08 TCGA-CN-4734-10A-01D-1434-08 g.chrX:117033238C>A c.1601G>T c.(1600-1602)gGa>gTa p.G534V HNSC 23 117043397 117043397 + Silent SNP G G C TCGA-CV-6938-01A-11D-1912-08 TCGA-CV-6938-10A-01D-1912-08 g.chrX:117043397G>C c.1233C>G c.(1231-1233)gtC>gtG p.V411V HNSC 23 117079426 117079426 + Missense_Mutation SNP T T C TCGA-CN-6021-01A-11D-1683-08 TCGA-CN-6021-10A-01D-1683-08 g.chrX:117079426T>C c.211A>G c.(211-213)Agc>Ggc p.S71G HNSC 23 117106771 117106771 + Silent SNP C C T TCGA-CV-7568-01A-11D-2229-08 TCGA-CV-7568-10A-01D-2229-08 g.chrX:117106771C>T c.21G>A c.(19-21)acG>acA p.T7T KICH 23 117053557 117053557 + Missense_Mutation SNP T T C TCGA-KN-8433-01A-11D-2310-10 TCGA-KN-8433-11A-01D-2311-10 g.chrX:117053557T>C c.497A>G c.(496-498)gAc>gGc p.D166G KIPAN 23 117032986 117032986 + Frame_Shift_Del DEL T T - TCGA-B8-4146-01B-11D-1669-08 TCGA-B8-4146-10A-01D-1669-08 g.chrX:117032986delT c.1853delA c.(1852-1854)aagfs p.K618fs KIPAN 23 117043342 117043342 + Missense_Mutation SNP T T C TCGA-B0-5712-01A-11D-1669-08 TCGA-B0-5712-11A-01D-1669-08 g.chrX:117043342T>C c.1288A>G c.(1288-1290)Aag>Gag p.K430E KIPAN 23 117053557 117053557 + Missense_Mutation SNP T T C TCGA-KN-8433-01A-11D-2310-10 TCGA-KN-8433-11A-01D-2311-10 g.chrX:117053557T>C c.497A>G c.(496-498)gAc>gGc p.D166G KIRC 23 117032986 117032986 + Frame_Shift_Del DEL T T - TCGA-B8-4146-01B-11D-1669-08 TCGA-B8-4146-10A-01D-1669-08 g.chrX:117032986delT c.1853delA c.(1852-1854)aagfs p.K618fs KIRC 23 117043342 117043342 + Missense_Mutation SNP T T C TCGA-B0-5712-01A-11D-1669-08 TCGA-B0-5712-11A-01D-1669-08 g.chrX:117043342T>C c.1288A>G c.(1288-1290)Aag>Gag p.K430E LGG 23 117032912 117032912 + Missense_Mutation SNP T T G TCGA-HT-7601-01A-11D-2086-08 TCGA-HT-7601-10A-01D-2086-08 g.chrX:117032912T>G c.1927A>C c.(1927-1929)Aca>Cca p.T643P LGG 23 117033091 117033091 + Missense_Mutation SNP G G A TCGA-DU-6392-01A-11D-1705-08 TCGA-DU-6392-10A-01D-1705-08 g.chrX:117033091G>A c.1748C>T c.(1747-1749)gCt>gTt p.A583V LGG 23 117043975 117043975 + Missense_Mutation SNP C C T TCGA-DU-6404-01A-11D-1705-08 TCGA-DU-6404-10A-01D-1705-08 g.chrX:117043975C>T c.655G>A c.(655-657)Gtc>Atc p.V219I LIHC 23 117053530 117053536 + Frame_Shift_Del DEL TGTAGGA TGTAGGA - TCGA-ES-A2HT-01A-12D-A183-10 TCGA-ES-A2HT-11A-11D-A183-10 g.chrX:117053530_117053536delTGTAGGA c.518_524delTCCTACA c.(517-525)ttcctacagfs p.FLQ173fs LIHC 23 117053532 117053532 + Silent SNP T T C TCGA-ES-A2HT-01A-12D-A183-10 TCGA-ES-A2HT-11A-11D-A183-10 g.chrX:117053532T>C c.522A>G c.(520-522)ctA>ctG p.L174L LIHC 23 117053617 117053617 + Missense_Mutation SNP C C T TCGA-RC-A6M3-01A-11D-A32G-10 TCGA-RC-A6M3-10A-01D-A32G-10 g.chrX:117053617C>T c.437G>A c.(436-438)aGg>aAg p.R146K LIHC 23 117079481 117079481 + Missense_Mutation SNP C C T TCGA-DD-A119-01A-11D-A12Z-10 TCGA-DD-A119-10A-01D-A12Z-10 g.chrX:117079481C>T c.156G>A c.(154-156)atG>atA p.M52I LUAD 23 117033102 117033102 + Missense_Mutation SNP A A T TCGA-L4-A4E5-01A-11D-A24P-08 TCGA-L4-A4E5-10A-01D-A24P-08 g.chrX:117033102A>T c.1737T>A c.(1735-1737)gaT>gaA p.D579E LUAD 23 117033283 117033283 + Missense_Mutation SNP G G T TCGA-78-7146-01A-11D-2036-08 TCGA-78-7146-10A-01D-2036-08 g.chrX:117033283G>T c.1556C>A c.(1555-1557)gCg>gAg p.A519E LUAD 23 117033333 117033333 + Silent SNP T T C TCGA-73-4662-01A-01D-1265-08 TCGA-73-4662-11A-01D-1265-08 g.chrX:117033333T>C c.1506A>G c.(1504-1506)caA>caG p.Q502Q LUAD 23 117033335 117033335 + Missense_Mutation SNP G G T TCGA-05-4427-01A-21D-1855-08 TCGA-05-4427-10A-01D-1855-08 g.chrX:117033335G>T c.1504C>A c.(1504-1506)Caa>Aaa p.Q502K LUAD 23 117035844 117035844 + Frame_Shift_Del DEL G G - TCGA-MP-A4T4-01A-11D-A25L-08 TCGA-MP-A4T4-10A-01D-A25L-08 g.chrX:117035844delG c.1432delC c.(1432-1434)cacfs p.H478fs LUAD 23 117043360 117043360 + Missense_Mutation SNP C C A TCGA-97-A4M7-01A-11D-A24P-08 TCGA-97-A4M7-10A-01D-A24P-08 g.chrX:117043360C>A c.1270G>T c.(1270-1272)Gtt>Ttt p.V424F LUAD 23 117043381 117043381 + Nonsense_Mutation SNP G G A TCGA-64-5781-01A-01D-1625-08 TCGA-64-5781-10A-01D-1625-08 g.chrX:117043381G>A c.1249C>T c.(1249-1251)Cga>Tga p.R417* LUAD 23 117043455 117043455 + Missense_Mutation SNP T T C TCGA-17-Z017-01A-01W-0746-08 TCGA-17-Z017-11A-01W-0746-08 g.chrX:117043455T>C c.1175A>G c.(1174-1176)tAt>tGt p.Y392C LUAD 23 117043468 117043468 + Missense_Mutation SNP C C T TCGA-05-4397-01A-01D-1265-08 TCGA-05-4397-10A-01D-1265-08 g.chrX:117043468C>T c.1162G>A c.(1162-1164)Gga>Aga p.G388R LUAD 23 117043547 117043547 + Missense_Mutation SNP C C A TCGA-69-A59K-01A-11D-A25L-08 TCGA-69-A59K-10A-01D-A25L-08 g.chrX:117043547C>A c.1083G>T c.(1081-1083)atG>atT p.M361I LUAD 23 117043634 117043634 + Silent SNP C C T TCGA-MP-A4TK-01A-11D-A24P-08 TCGA-MP-A4TK-10A-01D-A24P-08 g.chrX:117043634C>T c.996G>A c.(994-996)agG>agA p.R332R LUAD 23 117079444 117079444 + Missense_Mutation SNP G G T TCGA-38-4626-01A-01D-1553-08 TCGA-38-4626-11A-01D-1553-08 g.chrX:117079444G>T c.193C>A c.(193-195)Cct>Act p.P65T LUAD 23 117079468 117079468 + Missense_Mutation SNP G G T TCGA-69-7974-01A-11D-2184-08 TCGA-69-7974-10A-01D-2184-08 g.chrX:117079468G>T c.169C>A c.(169-171)Cat>Aat p.H57N LUAD 23 117079539 117079539 + Splice_Site SNP C C A TCGA-17-Z031-01A-01W-0746-08 TCGA-17-Z031-11A-01W-0746-08 g.chrX:117079539C>A c.e2-1 LUAD 23 117079539 117079539 + Splice_Site SNP C C G TCGA-55-6712-01A-11D-1855-08 TCGA-55-6712-10A-01D-1855-08 g.chrX:117079539C>G c.e2-1 LUSC 23 117033294 117033294 + Missense_Mutation SNP C C A TCGA-60-2720-01A-01D-1522-08 TCGA-60-2720-11A-01D-1522-08 g.chrX:117033294C>A c.1545G>T c.(1543-1545)tgG>tgT p.W515C OV 23 117035836 117035836 + Silent SNP G G A TCGA-23-2649-01A-01D-1526-09 TCGA-23-2649-10A-01D-1526-09 g.chrX:117035836G>A c.1440C>T c.(1438-1440)ggC>ggT p.G480G OV 23 117054278 117054278 + Missense_Mutation SNP C C A TCGA-04-1369-01A-02D-1526-09 TCGA-04-1369-11A-01D-1526-09 g.chrX:117054278C>A c.296G>T c.(295-297)gGt>gTt p.G99V PRAD 23 117033092 117033092 + Missense_Mutation SNP C C T TCGA-EJ-A65M-01A-11D-A29Q-08 TCGA-EJ-A65M-10A-01D-A29Q-08 g.chrX:117033092C>T c.1747G>A c.(1747-1749)Gct>Act p.A583T PRAD 23 117053579 117053579 + Missense_Mutation SNP G G C TCGA-EJ-5511-01A-01D-1576-08 TCGA-EJ-5511-10A-01D-1577-08 g.chrX:117053579G>C c.475C>G c.(475-477)Ctt>Gtt p.L159V READ 23 117043321 117043321 + Missense_Mutation SNP T T G TCGA-F5-6464-01A-11D-1733-10 TCGA-F5-6464-10A-01D-1733-10 g.chrX:117043321T>G c.1309A>C c.(1309-1311)Agt>Cgt p.S437R READ 23 117043380 117043380 + Missense_Mutation SNP C C T TCGA-AG-3892-01A-01W-1073-09 TCGA-AG-3892-10A-01W-1073-09 g.chrX:117043380C>T c.1250G>A c.(1249-1251)cGa>cAa p.R417Q READ 23 117043745 117043745 + Silent SNP G G A TCGA-AF-5654-01A-01D-1657-10 TCGA-AF-5654-10A-01D-1657-10 g.chrX:117043745G>A c.885C>T c.(883-885)taC>taT p.Y295Y SARC 23 117043924 117043924 + Missense_Mutation SNP G G A TCGA-DX-A8BP-01A-11D-A37C-09 TCGA-DX-A8BP-10A-01D-A37F-09 g.chrX:117043924G>A c.706C>T c.(706-708)Cct>Tct p.P236S SARC 23 117079473 117079473 + Missense_Mutation SNP G G A TCGA-DX-AB2E-01A-11D-A38Z-09 TCGA-DX-AB2E-10A-01D-A38Z-09 g.chrX:117079473G>A c.164C>T c.(163-165)tCa>tTa p.S55L SKCM 23 117032885 117032885 + Missense_Mutation SNP G G A TCGA-EE-A3AF-06A-11D-A196-08 TCGA-EE-A3AF-10A-01D-A198-08 g.chrX:117032885G>A c.1954C>T c.(1954-1956)Ctt>Ttt p.L652F SKCM 23 117032927 117032927 + Missense_Mutation SNP G G A TCGA-EE-A29B-06A-11D-A197-08 TCGA-EE-A29B-10A-01D-A199-08 g.chrX:117032927G>A c.1912C>T c.(1912-1914)Cca>Tca p.P638S SKCM 23 117032951 117032951 + Missense_Mutation SNP G G A TCGA-ER-A2NH-06A-11D-A196-08 TCGA-ER-A2NH-10A-01D-A198-08 g.chrX:117032951G>A c.1888C>T c.(1888-1890)Cgt>Tgt p.R630C SKCM 23 117033005 117033005 + Missense_Mutation SNP C C T TCGA-FS-A1ZA-06A-11D-A197-08 TCGA-FS-A1ZA-10A-01D-A199-08 g.chrX:117033005C>T c.1834G>A c.(1834-1836)Gat>Aat p.D612N SKCM 23 117033027 117033027 + Silent SNP C C T TCGA-GF-A6C8-06A-12D-A30X-08 TCGA-GF-A6C8-10A-01D-A30X-08 g.chrX:117033027C>T c.1812G>A c.(1810-1812)gaG>gaA p.E604E SKCM 23 117033109 117033109 + Missense_Mutation SNP T T C TCGA-EE-A181-06A-11D-A196-08 TCGA-EE-A181-10A-01D-A198-08 g.chrX:117033109T>C c.1730A>G c.(1729-1731)cAg>cGg p.Q577R SKCM 23 117033271 117033271 + Missense_Mutation SNP G G A TCGA-GF-A6C9-06A-11D-A30X-08 TCGA-GF-A6C9-10A-01D-A30X-08 g.chrX:117033271G>A c.1568C>T c.(1567-1569)aCt>aTt p.T523I SKCM 23 117033291 117033291 + Silent SNP G G A TCGA-D3-A2JL-06A-11D-A196-08 TCGA-D3-A2JL-10A-01D-A198-08 g.chrX:117033291G>A c.1548C>T c.(1546-1548)atC>atT p.I516I SKCM 23 117033355 117033355 + Missense_Mutation SNP C C T TCGA-EE-A29D-06A-11D-A197-08 TCGA-EE-A29D-10A-01D-A199-08 g.chrX:117033355C>T c.1484G>A c.(1483-1485)gGa>gAa p.G495E SKCM 23 117035815 117035815 + Silent SNP T T A TCGA-FS-A1ZW-06A-12D-A197-08 TCGA-FS-A1ZW-10A-01D-A199-08 g.chrX:117035815T>A c.1461A>T c.(1459-1461)ggA>ggT p.G487G SKCM 23 117035816 117035816 + Missense_Mutation SNP C C T TCGA-D3-A5GO-06A-12D-A27K-08 TCGA-D3-A5GO-10A-01D-A27N-08 g.chrX:117035816C>T c.1460G>A c.(1459-1461)gGa>gAa p.G487E SKCM 23 117035835 117035835 + Missense_Mutation SNP G G A TCGA-EE-A29D-06A-11D-A197-08 TCGA-EE-A29D-10A-01D-A199-08 g.chrX:117035835G>A c.1441C>T c.(1441-1443)Cat>Tat p.H481Y SKCM 23 117035910 117035910 + Splice_Site SNP C C T TCGA-GF-A6C9-06A-11D-A30X-08 TCGA-GF-A6C9-10A-01D-A30X-08 g.chrX:117035910C>T c.e6-1 SKCM 23 117043303 117043303 + Silent SNP G G A TCGA-GF-A6C9-06A-11D-A30X-08 TCGA-GF-A6C9-10A-01D-A30X-08 g.chrX:117043303G>A c.1327C>T c.(1327-1329)Ctg>Ttg p.L443L SKCM 23 117043327 117043327 + Missense_Mutation SNP G G A TCGA-FW-A3R5-06A-11D-A23B-08 TCGA-FW-A3R5-10A-01D-A23B-08 g.chrX:117043327G>A c.1303C>T c.(1303-1305)Cac>Tac p.H435Y SKCM 23 117043328 117043328 + Silent SNP G G A TCGA-FW-A3R5-06A-11D-A23B-08 TCGA-FW-A3R5-10A-01D-A23B-08 g.chrX:117043328G>A c.1302C>T c.(1300-1302)ttC>ttT p.F434F SKCM 23 117043419 117043419 + Missense_Mutation SNP C C T TCGA-EE-A3AE-06A-11D-A196-08 TCGA-EE-A3AE-10A-01D-A198-08 g.chrX:117043419C>T c.1211G>A c.(1210-1212)gGa>gAa p.G404E SKCM 23 117043419 117043419 + Missense_Mutation SNP C C T TCGA-GF-A6C9-06A-11D-A30X-08 TCGA-GF-A6C9-10A-01D-A30X-08 g.chrX:117043419C>T c.1211G>A c.(1210-1212)gGa>gAa p.G404E SKCM 23 117043429 117043429 + Missense_Mutation SNP C C T TCGA-D3-A3C8-06A-12D-A19A-08 TCGA-D3-A3C8-10A-01D-A19A-08 g.chrX:117043429C>T c.1201G>A c.(1201-1203)Gat>Aat p.D401N SKCM 23 117043438 117043438 + Missense_Mutation SNP T T C TCGA-ER-A197-06A-32D-A197-08 TCGA-ER-A197-10A-01D-A199-08 g.chrX:117043438T>C c.1192A>G c.(1192-1194)Agt>Ggt p.S398G SKCM 23 117043467 117043467 + Missense_Mutation SNP C C T TCGA-GN-A4U4-06A-11D-A32N-08 TCGA-GN-A4U4-10B-01D-A32N-08 g.chrX:117043467C>T c.1163G>A c.(1162-1164)gGa>gAa p.G388E SKCM 23 117043518 117043518 + Missense_Mutation SNP G G A TCGA-D9-A1JW-06A-11D-A19A-08 TCGA-D9-A1JW-10A-01D-A19A-08 g.chrX:117043518G>A c.1112C>T c.(1111-1113)tCg>tTg p.S371L SKCM 23 117043518 117043518 + Missense_Mutation SNP G G A TCGA-FW-A3R5-06A-11D-A23B-08 TCGA-FW-A3R5-10A-01D-A23B-08 g.chrX:117043518G>A c.1112C>T c.(1111-1113)tCg>tTg p.S371L SKCM 23 117043528 117043528 + Missense_Mutation SNP C C T TCGA-D9-A149-06A-11D-A196-08 TCGA-D9-A149-10A-01D-A198-08 g.chrX:117043528C>T c.1102G>A c.(1102-1104)Gag>Aag p.E368K SKCM 23 117043543 117043543 + Missense_Mutation SNP C C T TCGA-EE-A29N-06A-12D-A197-08 TCGA-EE-A29N-10A-01D-A199-08 g.chrX:117043543C>T c.1087G>A c.(1087-1089)Gat>Aat p.D363N SKCM 23 117043590 117043590 + Missense_Mutation SNP C C T TCGA-EE-A2MC-06A-12D-A197-08 TCGA-EE-A2MC-10A-01D-A199-08 g.chrX:117043590C>T c.1040G>A c.(1039-1041)gGa>gAa p.G347E SKCM 23 117043651 117043651 + Missense_Mutation SNP C C T TCGA-EE-A3AG-06A-31D-A196-08 TCGA-EE-A3AG-10A-01D-A198-08 g.chrX:117043651C>T c.979G>A c.(979-981)Gtt>Att p.V327I SKCM 23 117043777 117043777 + Missense_Mutation SNP G G A TCGA-EE-A2GC-06A-11D-A197-08 TCGA-EE-A2GC-10A-01D-A199-08 g.chrX:117043777G>A c.853C>T c.(853-855)Cca>Tca p.P285S SKCM 23 117043931 117043931 + Silent SNP C C T TCGA-EE-A2GD-06A-11D-A196-08 TCGA-EE-A2GD-10A-01D-A198-08 g.chrX:117043931C>T c.699G>A c.(697-699)ttG>ttA p.L233L SKCM 23 117043960 117043960 + Missense_Mutation SNP G G A TCGA-D3-A51R-06A-11D-A25O-08 TCGA-D3-A51R-10A-01D-A25O-08 g.chrX:117043960G>A c.670C>T c.(670-672)Cct>Tct p.P224S SKCM 23 117043960 117043960 + Missense_Mutation SNP G G A TCGA-GN-A266-06A-11D-A197-08 TCGA-GN-A266-10A-01D-A199-08 g.chrX:117043960G>A c.670C>T c.(670-672)Cct>Tct p.P224S SKCM 23 117043967 117043967 + Silent SNP C C T TCGA-EE-A3AF-06A-11D-A196-08 TCGA-EE-A3AF-10A-01D-A198-08 g.chrX:117043967C>T c.663G>A c.(661-663)aaG>aaA p.K221K SKCM 23 117043976 117043976 + Silent SNP G G A TCGA-ER-A19F-06A-11D-A196-08 TCGA-ER-A19F-10A-01D-A198-08 g.chrX:117043976G>A c.654C>T c.(652-654)ttC>ttT p.F218F SKCM 23 117044002 117044002 + Missense_Mutation SNP C C T TCGA-D3-A51T-06A-11D-A25O-08 TCGA-D3-A51T-10A-01D-A25O-08 g.chrX:117044002C>T c.628G>A c.(628-630)Gaa>Aaa p.E210K SKCM 23 117044002 117044002 + Missense_Mutation SNP C C T TCGA-EE-A2GC-06A-11D-A197-08 TCGA-EE-A2GC-10A-01D-A199-08 g.chrX:117044002C>T c.628G>A c.(628-630)Gaa>Aaa p.E210K SKCM 23 117053493 117053493 + Silent SNP G G A TCGA-EE-A2MK-06A-11D-A196-08 TCGA-EE-A2MK-10A-01D-A198-08 g.chrX:117053493G>A c.561C>T c.(559-561)ctC>ctT p.L187L SKCM 23 117053514 117053514 + Silent SNP C C T TCGA-FW-A3R5-06A-11D-A23B-08 TCGA-FW-A3R5-10A-01D-A23B-08 g.chrX:117053514C>T c.540G>A c.(538-540)ttG>ttA p.L180L SKCM 23 117053534 117053534 + Silent SNP G G A TCGA-EE-A29D-06A-11D-A197-08 TCGA-EE-A29D-10A-01D-A199-08 g.chrX:117053534G>A c.520C>T c.(520-522)Cta>Tta p.L174L SKCM 23 117053535 117053535 + Silent SNP G G A TCGA-EE-A29R-06A-11D-A197-08 TCGA-EE-A29R-10A-01D-A199-08 g.chrX:117053535G>A c.519C>T c.(517-519)ttC>ttT p.F173F SKCM 23 117053560 117053560 + Missense_Mutation SNP T T C TCGA-EE-A2GJ-06A-11D-A196-08 TCGA-EE-A2GJ-10A-01D-A198-08 g.chrX:117053560T>C c.494A>G c.(493-495)cAa>cGa p.Q165R SKCM 23 117053571 117053571 + Missense_Mutation SNP C C T TCGA-ER-A19F-06A-11D-A196-08 TCGA-ER-A19F-10A-01D-A198-08 g.chrX:117053571C>T c.483G>A c.(481-483)atG>atA p.M161I SKCM 23 117053615 117053615 + Nonsense_Mutation SNP T T A TCGA-EE-A2MM-06A-11D-A196-08 TCGA-EE-A2MM-10A-01D-A198-08 g.chrX:117053615T>A c.439A>T c.(439-441)Aaa>Taa p.K147* SKCM 23 117053617 117053617 + Missense_Mutation SNP C C T TCGA-EE-A2GO-06A-11D-A196-08 TCGA-EE-A2GO-10A-01D-A198-08 g.chrX:117053617C>T c.437G>A c.(436-438)aGg>aAg p.R146K SKCM 23 117054225 117054225 + Missense_Mutation SNP C C T TCGA-D3-A3C8-06A-12D-A19A-08 TCGA-D3-A3C8-10A-01D-A19A-08 g.chrX:117054225C>T c.349G>A c.(349-351)Gat>Aat p.D117N SKCM 23 117054318 117054318 + Nonsense_Mutation SNP G G A TCGA-EE-A181-06A-11D-A196-08 TCGA-EE-A181-10A-01D-A198-08 g.chrX:117054318G>A c.256C>T c.(256-258)Cga>Tga p.R86* SKCM 23 117079486 117079486 + Missense_Mutation SNP C C T TCGA-FW-A3R5-06A-11D-A23B-08 TCGA-FW-A3R5-10A-01D-A23B-08 g.chrX:117079486C>T c.151G>A c.(151-153)Gaa>Aaa p.E51K SKCM 23 117079498 117079498 + Missense_Mutation SNP G G A TCGA-EE-A17X-06A-11D-A197-08 TCGA-EE-A17X-10A-01D-A199-08 g.chrX:117079498G>A c.139C>T c.(139-141)Ctt>Ttt p.L47F SKCM 23 117079508 117079508 + Missense_Mutation SNP C C T TCGA-FS-A1Z3-06A-11D-A197-08 TCGA-FS-A1Z3-10A-01D-A199-08 g.chrX:117079508C>T c.129G>A c.(127-129)atG>atA p.M43I SKCM 23 117079528 117079528 + Missense_Mutation SNP C C T TCGA-EE-A182-06A-11D-A196-08 TCGA-EE-A182-10A-01D-A198-08 g.chrX:117079528C>T c.109G>A c.(109-111)Gaa>Aaa p.E37K SKCM 23 117079532 117079532 + Silent SNP G G A TCGA-EE-A3JA-06A-11D-A20D-08 TCGA-EE-A3JA-10A-01D-A20D-08 g.chrX:117079532G>A c.105C>T c.(103-105)ctC>ctT p.L35L SKCM 23 117106695 117106695 + Splice_Site SNP T T C TCGA-EE-A20H-06A-11D-A197-08 TCGA-EE-A20H-10A-01D-A199-08 g.chrX:117106695T>C c.97A>G c.(97-99)Ata>Gta p.I33V SKCM 23 117106747 117106747 + Silent SNP G G A TCGA-EE-A3AA-06A-11D-A196-08 TCGA-EE-A3AA-10A-01D-A198-08 g.chrX:117106747G>A c.45C>T c.(43-45)ttC>ttT p.F15F SKCM 23 117106777 117106777 + Nonsense_Mutation SNP C C T TCGA-FW-A3R5-06A-11D-A23B-08 TCGA-FW-A3R5-10A-01D-A23B-08 g.chrX:117106777C>T c.15G>A c.(13-15)tgG>tgA p.W5*

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 X 117106704 117106704 single base substitution G A 5_prime_UTR_variant BLCA-CN X 117106704 117106704 single base substitution G A intron_variant BLCA-CN X 117106704 117106704 single base substitution G A missense_variant P30S 88C>T BLCA-US X 117053581 117053581 single base substitution G C downstream_gene_variant BLCA-US X 117053581 117053581 single base substitution G C missense_variant S107C 320C>G BLCA-US X 117053581 117053581 single base substitution G C missense_variant S116C 347C>G BLCA-US X 117053581 117053581 single base substitution G C missense_variant S142C 425C>G BLCA-US X 117053581 117053581 single base substitution G C missense_variant S158C 473C>G BLCA-US X 117053581 117053581 single base substitution G C missense_variant S161C 482C>G BLCA-US X 117054334 117054334 single base substitution C A splice_acceptor_variant BOCA-FR X 117035975 117035975 single base substitution C A intron_variant BOCA-FR X 117050282 117050282 single base substitution T C downstream_gene_variant BOCA-FR X 117050282 117050282 single base substitution T C intron_variant BOCA-FR X 117240611 117240611 single base substitution G C intron_variant BOCA-UK X 117043259 117043259 single base substitution C A splice_region_variant BRCA-EU X 117027978 117027978 deletion of <=200bp C - downstream_gene_variant BRCA-EU X 117028461 117028461 deletion of <=200bp G - downstream_gene_variant BRCA-EU X 117028900 117028900 single base substitution C A downstream_gene_variant BRCA-EU X 117029697 117029697 single base substitution A T downstream_gene_variant BRCA-EU X 117030351 117030351 single base substitution C T downstream_gene_variant BRCA-EU X 117030354 117030354 single base substitution A T downstream_gene_variant BRCA-EU X 117030505 117030505 single base substitution C T downstream_gene_variant BRCA-EU X 117030937 117030937 single base substitution G T downstream_gene_variant BRCA-EU X 117030992 117030992 single base substitution G T downstream_gene_variant BRCA-EU X 117031173 117031173 single base substitution G A downstream_gene_variant BRCA-EU X 117032061 117032061 single base substitution G A 3_prime_UTR_variant BRCA-EU X 117032061 117032061 single base substitution G A downstream_gene_variant BRCA-EU X 117032626 117032626 deletion of <=200bp T - 3_prime_UTR_variant BRCA-EU X 117033102 117033102 single base substitution A G synonymous_variant D528D 1584T>C BRCA-EU X 117033102 117033102 single base substitution A G synonymous_variant D537D 1611T>C BRCA-EU X 117033102 117033102 single base substitution A G synonymous_variant D563D 1689T>C BRCA-EU X 117033102 117033102 single base substitution A G synonymous_variant D579D 1737T>C BRCA-EU X 117033102 117033102 single base substitution A G synonymous_variant D582D 1746T>C BRCA-EU X 117033252 117033252 single base substitution G T stop_gained C478* 1434C>A BRCA-EU X 117033252 117033252 single base substitution G T stop_gained C487* 1461C>A BRCA-EU X 117033252 117033252 single base substitution G T stop_gained C513* 1539C>A BRCA-EU X 117033252 117033252 single base substitution G T stop_gained C529* 1587C>A BRCA-EU X 117033252 117033252 single base substitution G T stop_gained C532* 1596C>A BRCA-EU X 117034908 117034908 single base substitution T G intron_variant BRCA-EU X 117035116 117035116 single base substitution A G intron_variant BRCA-EU X 117035664 117035664 single base substitution C A intron_variant BRCA-EU X 117036524 117036524 single base substitution G T intron_variant BRCA-EU X 117037071 117037071 deletion of <=200bp A - intron_variant BRCA-EU X 117037581 117037582 deletion of <=200bp TC - intron_variant BRCA-EU X 117037815 117037815 single base substitution A T intron_variant BRCA-EU X 117038410 117038410 single base substitution A T intron_variant BRCA-EU X 117038913 117038913 single base substitution T C intron_variant BRCA-EU X 117039417 117039417 single base substitution G A intron_variant BRCA-EU X 117040237 117040244 deletion of <=200bp TCTGCTAT - intron_variant BRCA-EU X 117040413 117040413 single base substitution C T intron_variant BRCA-EU X 117042413 117042413 single base substitution C G intron_variant BRCA-EU X 117042867 117042867 single base substitution T C intron_variant BRCA-EU X 117043273 117043273 single base substitution C G missense_variant G402R 1204G>C BRCA-EU X 117043273 117043273 single base substitution C G missense_variant G411R 1231G>C BRCA-EU X 117043273 117043273 single base substitution C G missense_variant G437R 1309G>C BRCA-EU X 117043273 117043273 single base substitution C G missense_variant G453R 1357G>C BRCA-EU X 117043273 117043273 single base substitution C G missense_variant G456R 1366G>C BRCA-EU X 117043540 117043540 single base substitution C T missense_variant E313K 937G>A BRCA-EU X 117043540 117043540 single base substitution C T missense_variant E322K 964G>A BRCA-EU X 117043540 117043540 single base substitution C T missense_variant E348K 1042G>A BRCA-EU X 117043540 117043540 single base substitution C T missense_variant E364K 1090G>A BRCA-EU X 117043540 117043540 single base substitution C T missense_variant E367K 1099G>A BRCA-EU X 117046172 117046172 single base substitution G C intron_variant BRCA-EU X 117046924 117046924 single base substitution A G intron_variant BRCA-EU X 117048487 117048487 single base substitution G C intron_variant BRCA-EU X 117048951 117048951 single base substitution G A intron_variant BRCA-EU X 117049120 117049120 insertion of <=200bp - A intron_variant BRCA-EU X 117049559 117049559 single base substitution C G downstream_gene_variant BRCA-EU X 117049559 117049559 single base substitution C G intron_variant BRCA-EU X 117049906 117049906 single base substitution G A downstream_gene_variant BRCA-EU X 117049906 117049906 single base substitution G A intron_variant BRCA-EU X 117051984 117051984 single base substitution C T downstream_gene_variant BRCA-EU X 117051984 117051984 single base substitution C T intron_variant BRCA-EU X 117052989 117052989 deletion of <=200bp T - downstream_gene_variant BRCA-EU X 117052989 117052989 deletion of <=200bp T - intron_variant BRCA-EU X 117054097 117054097 single base substitution C G downstream_gene_variant BRCA-EU X 117054097 117054097 single base substitution C G intron_variant BRCA-EU X 117054562 117054562 single base substitution C T intron_variant BRCA-EU X 117058089 117058089 single base substitution C T intron_variant BRCA-EU X 117058207 117058207 single base substitution C A intron_variant BRCA-EU X 117058840 117058840 single base substitution G A intron_variant BRCA-EU X 117059528 117059528 single base substitution A T intron_variant BRCA-EU X 117059889 117059889 single base substitution C T intron_variant BRCA-EU X 117060019 117060019 single base substitution G T intron_variant BRCA-EU X 117060643 117060643 single base substitution G A intron_variant BRCA-EU X 117061116 117061116 single base substitution G A intron_variant BRCA-EU X 117062959 117062959 single base substitution G C intron_variant BRCA-EU X 117063270 117063270 single base substitution C T intron_variant BRCA-EU X 117063736 117063736 single base substitution C A intron_variant BRCA-EU X 117065565 117065565 single base substitution C T intron_variant BRCA-EU X 117065713 117065713 single base substitution C T intron_variant BRCA-EU X 117066291 117066291 deletion of <=200bp A - intron_variant BRCA-EU X 117066885 117066885 single base substitution G C intron_variant BRCA-EU X 117067109 117067109 single base substitution T A intron_variant BRCA-EU X 117067711 117067711 single base substitution A G intron_variant BRCA-EU X 117067899 117067899 single base substitution A G intron_variant BRCA-EU X 117068986 117068986 single base substitution C A intron_variant BRCA-EU X 117069277 117069277 single base substitution G T intron_variant BRCA-EU X 117069528 117069528 single base substitution C T intron_variant BRCA-EU X 117069637 117069637 single base substitution T C intron_variant BRCA-EU X 117069675 117069675 single base substitution G T intron_variant BRCA-EU X 117069911 117069911 single base substitution C T intron_variant BRCA-EU X 117070402 117070402 single base substitution C T intron_variant BRCA-EU X 117070442 117070442 deletion of <=200bp T - intron_variant BRCA-EU X 117070730 117070730 single base substitution A C intron_variant BRCA-EU X 117070731 117070731 single base substitution T A intron_variant BRCA-EU X 117071225 117071225 single base substitution A G intron_variant BRCA-EU X 117071559 117071559 single base substitution G A intron_variant BRCA-EU X 117072035 117072035 single base substitution T G intron_variant BRCA-EU X 117072070 117072070 single base substitution G A intron_variant BRCA-EU X 117072117 117072117 deletion of <=200bp T - intron_variant BRCA-EU X 117072814 117072814 deletion of <=200bp T - intron_variant BRCA-EU X 117073608 117073608 single base substitution G C intron_variant BRCA-EU X 117074044 117074044 single base substitution C T intron_variant BRCA-EU X 117074257 117074257 single base substitution T G intron_variant BRCA-EU X 117074460 117074460 single base substitution G A intron_variant BRCA-EU X 117075228 117075228 single base substitution T A intron_variant BRCA-EU X 117075545 117075545 single base substitution G T intron_variant BRCA-EU X 117075848 117075848 single base substitution T G intron_variant BRCA-EU X 117076658 117076658 single base substitution C T intron_variant BRCA-EU X 117079536 117079536 single base substitution G T 5_prime_UTR_variant BRCA-EU X 117079536 117079536 single base substitution G T missense_variant S18Y 53C>A BRCA-EU X 117079536 117079536 single base substitution G T missense_variant S34Y 101C>A BRCA-EU X 117079536 117079536 single base substitution G T missense_variant S37Y 110C>A BRCA-EU X 117079536 117079536 single base substitution G T splice_region_variant BRCA-EU X 117079557 117079560 deletion of <=200bp AAGA - 5_prime_UTR_variant BRCA-EU X 117079557 117079560 deletion of <=200bp AAGA - intron_variant BRCA-EU X 117080959 117080959 single base substitution A C 5_prime_UTR_variant BRCA-EU X 117080959 117080959 single base substitution A C intron_variant BRCA-EU X 117081554 117081554 single base substitution A G 5_prime_UTR_variant BRCA-EU X 117081554 117081554 single base substitution A G intron_variant BRCA-EU X 117081684 117081684 single base substitution C T 5_prime_UTR_variant BRCA-EU X 117081684 117081684 single base substitution C T intron_variant BRCA-EU X 117081794 117081794 single base substitution T A 5_prime_UTR_variant BRCA-EU X 117081794 117081794 single base substitution T A intron_variant BRCA-EU X 117082553 117082553 single base substitution A T intron_variant BRCA-EU X 117082553 117082553 single base substitution A T upstream_gene_variant BRCA-EU X 117082596 117082596 single base substitution A C intron_variant BRCA-EU X 117082596 117082596 single base substitution A C upstream_gene_variant BRCA-EU X 117082900 117082900 single base substitution C T intron_variant BRCA-EU X 117082900 117082900 single base substitution C T upstream_gene_variant BRCA-EU X 117083285 117083285 deletion of <=200bp T - intron_variant BRCA-EU X 117083285 117083285 deletion of <=200bp T - upstream_gene_variant BRCA-EU X 117083428 117083428 single base substitution G T intron_variant BRCA-EU X 117083428 117083428 single base substitution G T upstream_gene_variant BRCA-EU X 117084992 117084992 single base substitution A G intron_variant BRCA-EU X 117084992 117084992 single base substitution A G upstream_gene_variant BRCA-EU X 117085404 117085404 single base substitution G A intron_variant BRCA-EU X 117085404 117085404 single base substitution G A upstream_gene_variant BRCA-EU X 117087398 117087398 single base substitution G A intron_variant BRCA-EU X 117089045 117089045 single base substitution C G intron_variant BRCA-EU X 117089291 117089291 single base substitution T G intron_variant BRCA-EU X 117090202 117090202 single base substitution A T intron_variant BRCA-EU X 117090281 117090281 single base substitution C G intron_variant BRCA-EU X 117090650 117090650 single base substitution T C intron_variant BRCA-EU X 117090835 117090835 single base substitution C T intron_variant BRCA-EU X 117091162 117091162 single base substitution C A intron_variant BRCA-EU X 117091362 117091362 single base substitution A G intron_variant BRCA-EU X 117092121 117092121 single base substitution C T intron_variant BRCA-EU X 117092282 117092282 single base substitution C A intron_variant BRCA-EU X 117092768 117092768 single base substitution G C intron_variant BRCA-EU X 117096824 117096824 single base substitution C T intron_variant BRCA-EU X 117096932 117096932 single base substitution A T intron_variant BRCA-EU X 117100285 117100285 single base substitution G C intron_variant BRCA-EU X 117101100 117101100 single base substitution G C intron_variant BRCA-EU X 117101337 117101337 single base substitution C A intron_variant BRCA-EU X 117102468 117102468 single base substitution C A intron_variant BRCA-EU X 117104101 117104101 single base substitution A C intron_variant BRCA-EU X 117105767 117105767 single base substitution A G intron_variant BRCA-EU X 117107008 117107008 single base substitution C G 5_prime_UTR_variant BRCA-EU X 117107008 117107008 single base substitution C G intron_variant BRCA-EU X 117107095 117107095 single base substitution G C 5_prime_UTR_variant BRCA-EU X 117107095 117107095 single base substitution G C intron_variant BRCA-EU X 117107590 117107590 single base substitution C G 5_prime_UTR_variant BRCA-EU X 117107590 117107590 single base substitution C G intron_variant BRCA-EU X 117107590 117107590 single base substitution C G upstream_gene_variant BRCA-EU X 117107849 117107849 single base substitution C G intron_variant BRCA-EU X 117107849 117107849 single base substitution C G upstream_gene_variant BRCA-EU X 117109604 117109604 single base substitution T G intron_variant BRCA-EU X 117109604 117109604 single base substitution T G upstream_gene_variant BRCA-EU X 117109855 117109855 single base substitution T C intron_variant BRCA-EU X 117109855 117109855 single base substitution T C upstream_gene_variant BRCA-EU X 117110706 117110706 single base substitution C G intron_variant BRCA-EU X 117110706 117110706 single base substitution C G upstream_gene_variant BRCA-EU X 117110859 117110859 single base substitution A C intron_variant BRCA-EU X 117110859 117110859 single base substitution A C upstream_gene_variant BRCA-EU X 117110862 117110862 single base substitution T C intron_variant BRCA-EU X 117110862 117110862 single base substitution T C upstream_gene_variant BRCA-EU X 117113147 117113147 single base substitution G T intron_variant BRCA-EU X 117113449 117113449 single base substitution C G intron_variant BRCA-EU X 117113840 117113840 single base substitution C G intron_variant BRCA-EU X 117114760 117114760 single base substitution G C intron_variant BRCA-EU X 117115805 117115805 single base substitution G C intron_variant BRCA-EU X 117115858 117115859 deletion of <=200bp AC - intron_variant BRCA-EU X 117116066 117116066 single base substitution A G intron_variant BRCA-EU X 117116304 117116304 single base substitution C T intron_variant BRCA-EU X 117116327 117116327 single base substitution C A intron_variant BRCA-EU X 117116898 117116898 single base substitution G C intron_variant BRCA-EU X 117117412 117117412 single base substitution G A intron_variant BRCA-EU X 117117616 117117616 single base substitution C G intron_variant BRCA-EU X 117118537 117118537 deletion of <=200bp A - intron_variant BRCA-EU X 117118773 117118773 single base substitution T A intron_variant BRCA-EU X 117119382 117119382 single base substitution C A intron_variant BRCA-EU X 117119382 117119382 single base substitution C A upstream_gene_variant BRCA-EU X 117119603 117119603 single base substitution G C intron_variant BRCA-EU X 117119603 117119603 single base substitution G C upstream_gene_variant BRCA-EU X 117120497 117120497 single base substitution C A intron_variant BRCA-EU X 117120497 117120497 single base substitution C A upstream_gene_variant BRCA-EU X 117121007 117121007 single base substitution G A intron_variant BRCA-EU X 117121007 117121007 single base substitution G A upstream_gene_variant BRCA-EU X 117121559 117121559 single base substitution C A intron_variant BRCA-EU X 117121559 117121559 single base substitution C A upstream_gene_variant BRCA-EU X 117121739 117121739 single base substitution C T intron_variant BRCA-EU X 117121739 117121739 single base substitution C T upstream_gene_variant BRCA-EU X 117122055 117122055 single base substitution C A intron_variant BRCA-EU X 117122055 117122055 single base substitution C A upstream_gene_variant BRCA-EU X 117122401 117122401 single base substitution G T intron_variant BRCA-EU X 117122401 117122401 single base substitution G T upstream_gene_variant BRCA-EU X 117122823 117122823 single base substitution G C intron_variant BRCA-EU X 117122823 117122823 single base substitution G C upstream_gene_variant BRCA-EU X 117123375 117123375 single base substitution T A intron_variant BRCA-EU X 117123375 117123375 single base substitution T A upstream_gene_variant BRCA-EU X 117124737 117124737 single base substitution C G intron_variant BRCA-EU X 117126816 117126816 single base substitution C T intron_variant BRCA-EU X 117129199 117129199 single base substitution A C intron_variant BRCA-EU X 117129359 117129359 single base substitution G T intron_variant BRCA-EU X 117132168 117132168 single base substitution T C intron_variant BRCA-EU X 117132177 117132177 single base substitution G C intron_variant BRCA-EU X 117132443 117132443 deletion of <=200bp A - intron_variant BRCA-EU X 117133509 117133509 single base substitution G T intron_variant BRCA-EU X 117133658 117133658 single base substitution A T intron_variant BRCA-EU X 117134938 117134938 single base substitution G T intron_variant BRCA-EU X 117136255 117136255 single base substitution G A intron_variant BRCA-EU X 117136392 117136392 single base substitution A G intron_variant BRCA-EU X 117137033 117137033 single base substitution G A intron_variant BRCA-EU X 117137415 117137415 single base substitution T A intron_variant BRCA-EU X 117137930 117137930 single base substitution C T intron_variant BRCA-EU X 117138090 117138090 single base substitution C A intron_variant BRCA-EU X 117138108 117138108 single base substitution C T intron_variant BRCA-EU X 117138112 117138112 single base substitution A G intron_variant BRCA-EU X 117138132 117138132 single base substitution G T intron_variant BRCA-EU X 117140344 117140344 single base substitution A C intron_variant BRCA-EU X 117140582 117140582 deletion of <=200bp T - intron_variant BRCA-EU X 117140688 117140688 deletion of <=200bp A - intron_variant BRCA-EU X 117141567 117141567 single base substitution G A intron_variant BRCA-EU X 117142709 117142709 single base substitution G A intron_variant BRCA-EU X 117144706 117144706 single base substitution A T intron_variant BRCA-EU X 117144729 117144729 single base substitution G C intron_variant BRCA-EU X 117145037 117145040 deletion of <=200bp AAAT - intron_variant BRCA-EU X 117145298 117145298 single base substitution A G intron_variant BRCA-EU X 117147559 117147559 single base substitution C A intron_variant BRCA-EU X 117149764 117149764 single base substitution T A intron_variant BRCA-EU X 117149814 117149814 single base substitution T C intron_variant BRCA-EU X 117150609 117150609 single base substitution C T intron_variant BRCA-EU X 117152598 117152598 single base substitution C G intron_variant BRCA-EU X 117152822 117152822 single base substitution G A intron_variant BRCA-EU X 117153339 117153339 single base substitution T A intron_variant BRCA-EU X 117154045 117154045 single base substitution G A intron_variant BRCA-EU X 117155204 117155204 deletion of <=200bp T - intron_variant BRCA-EU X 117156009 117156009 single base substitution G T intron_variant BRCA-EU X 117156173 117156173 insertion of <=200bp - TG intron_variant BRCA-EU X 117156199 117156199 single base substitution T C intron_variant BRCA-EU X 117156655 117156655 single base substitution G A intron_variant BRCA-EU X 117157320 117157320 single base substitution C A intron_variant BRCA-EU X 117157577 117157577 single base substitution G C intron_variant BRCA-EU X 117158141 117158141 single base substitution A C intron_variant BRCA-EU X 117158233 117158233 single base substitution C T intron_variant BRCA-EU X 117159375 117159375 insertion of <=200bp - A intron_variant BRCA-EU X 117160284 117160284 single base substitution G C intron_variant BRCA-EU X 117161020 117161020 single base substitution A T intron_variant BRCA-EU X 117161473 117161473 insertion of <=200bp - T intron_variant BRCA-EU X 117161934 117161934 single base substitution G C intron_variant BRCA-EU X 117161940 117161940 single base substitution G A intron_variant BRCA-EU X 117163324 117163324 single base substitution T C intron_variant BRCA-EU X 117163324 117163324 single base substitution T C upstream_gene_variant BRCA-EU X 117163828 117163828 single base substitution G A intron_variant BRCA-EU X 117163828 117163828 single base substitution G A upstream_gene_variant BRCA-EU X 117164075 117164075 insertion of <=200bp - A intron_variant BRCA-EU X 117164075 117164075 insertion of <=200bp - A upstream_gene_variant BRCA-EU X 117164298 117164298 single base substitution T A intron_variant BRCA-EU X 117164298 117164298 single base substitution T A upstream_gene_variant BRCA-EU X 117164436 117164436 single base substitution C T intron_variant BRCA-EU X 117164436 117164436 single base substitution C T upstream_gene_variant BRCA-EU X 117164608 117164608 single base substitution G T intron_variant BRCA-EU X 117164608 117164608 single base substitution G T upstream_gene_variant BRCA-EU X 117165876 117165876 single base substitution A C intron_variant BRCA-EU X 117165876 117165876 single base substitution A C upstream_gene_variant BRCA-EU X 117166083 117166083 single base substitution C A intron_variant BRCA-EU X 117166083 117166083 single base substitution C A upstream_gene_variant BRCA-EU X 117172955 117172955 single base substitution C G intron_variant BRCA-EU X 117173693 117173693 single base substitution C T intron_variant BRCA-EU X 117174130 117174130 single base substitution T G intron_variant BRCA-EU X 117175433 117175433 single base substitution A T intron_variant BRCA-EU X 117176309 117176309 single base substitution G C intron_variant BRCA-EU X 117177000 117177000 single base substitution C G intron_variant BRCA-EU X 117177428 117177428 single base substitution G T intron_variant BRCA-EU X 117177618 117177618 single base substitution G A intron_variant BRCA-EU X 117179100 117179100 single base substitution G A intron_variant BRCA-EU X 117179534 117179534 single base substitution A G intron_variant BRCA-EU X 117181588 117181588 single base substitution C A intron_variant BRCA-EU X 117181756 117181756 insertion of <=200bp - T intron_variant BRCA-EU X 117181982 117181982 single base substitution A C intron_variant BRCA-EU X 117181995 117181995 single base substitution T G intron_variant BRCA-EU X 117182538 117182538 single base substitution T C intron_variant BRCA-EU X 117182647 117182647 deletion of <=200bp T - intron_variant BRCA-EU X 117183221 117183221 single base substitution A G intron_variant BRCA-EU X 117183485 117183485 single base substitution C A intron_variant BRCA-EU X 117183540 117183540 single base substitution G A intron_variant BRCA-EU X 117184471 117184471 single base substitution G A intron_variant BRCA-EU X 117184899 117184899 single base substitution A T intron_variant BRCA-EU X 117185152 117185152 single base substitution G A intron_variant BRCA-EU X 117185877 117185877 single base substitution G C intron_variant BRCA-EU X 117186112 117186112 single base substitution G T intron_variant BRCA-EU X 117187229 117187229 single base substitution T A intron_variant BRCA-EU X 117187327 117187327 single base substitution A C intron_variant BRCA-EU X 117187538 117187538 single base substitution G T intron_variant BRCA-EU X 117188332 117188332 single base substitution A C intron_variant BRCA-EU X 117189071 117189071 single base substitution G A intron_variant BRCA-EU X 117189571 117189571 deletion of <=200bp A - intron_variant BRCA-EU X 117191222 117191222 single base substitution C T intron_variant BRCA-EU X 117192057 117192057 single base substitution T C intron_variant BRCA-EU X 117192058 117192058 single base substitution A T intron_variant BRCA-EU X 117192933 117192933 single base substitution C T intron_variant BRCA-EU X 117194227 117194227 single base substitution C T intron_variant BRCA-EU X 117195146 117195146 deletion of <=200bp T - intron_variant BRCA-EU X 117195845 117195845 deletion of <=200bp A - intron_variant BRCA-EU X 117195956 117195956 single base substitution C T intron_variant BRCA-EU X 117196510 117196510 single base substitution A T intron_variant BRCA-EU X 117197180 117197180 single base substitution G T intron_variant BRCA-EU X 117197929 117197929 deletion of <=200bp T - intron_variant BRCA-EU X 117198849 117198849 single base substitution T C intron_variant BRCA-EU X 117198920 117198920 single base substitution T A intron_variant BRCA-EU X 117199352 117199352 single base substitution T C intron_variant BRCA-EU X 117200210 117200210 single base substitution G T intron_variant BRCA-EU X 117200620 117200620 single base substitution C G intron_variant BRCA-EU X 117201535 117201535 deletion of <=200bp A - intron_variant BRCA-EU X 117201589 117201589 single base substitution C G intron_variant BRCA-EU X 117204703 117204703 single base substitution A C intron_variant BRCA-EU X 117206737 117206737 single base substitution T A intron_variant BRCA-EU X 117207255 117207255 single base substitution A G intron_variant BRCA-EU X 117207267 117207267 single base substitution C T intron_variant BRCA-EU X 117208768 117208768 single base substitution C G intron_variant BRCA-EU X 117208811 117208811 single base substitution G C intron_variant BRCA-EU X 117210536 117210536 single base substitution G T intron_variant BRCA-EU X 117210699 117210699 single base substitution C G intron_variant BRCA-EU X 117210870 117210870 single base substitution C G intron_variant BRCA-EU X 117212217 117212217 single base substitution T A intron_variant BRCA-EU X 117213023 117213023 single base substitution G A intron_variant BRCA-EU X 117213621 117213621 deletion of <=200bp A - intron_variant BRCA-EU X 117214085 117214103 deletion of <=200bp AAATAACTCAAAATGGATT - intron_variant BRCA-EU X 117214644 117214644 single base substitution C A intron_variant BRCA-EU X 117215656 117215656 single base substitution C G intron_variant BRCA-EU X 117217210 117217210 insertion of <=200bp - TA intron_variant BRCA-EU X 117217524 117217524 single base substitution G C intron_variant BRCA-EU X 117218477 117218477 single base substitution T A intron_variant BRCA-EU X 117218985 117218985 deletion of <=200bp A - intron_variant BRCA-EU X 117219101 117219101 single base substitution C A intron_variant BRCA-EU X 117219332 117219332 single base substitution G A intron_variant BRCA-EU X 117219393 117219393 single base substitution G T intron_variant BRCA-EU X 117220218 117220218 deletion of <=200bp T - intron_variant BRCA-EU X 117220941 117220941 deletion of <=200bp A - intron_variant BRCA-EU X 117221021 117221021 single base substitution G T intron_variant BRCA-EU X 117221387 117221387 single base substitution G A intron_variant BRCA-EU X 117221452 117221452 single base substitution C T intron_variant BRCA-EU X 117221534 117221534 single base substitution T A intron_variant BRCA-EU X 117221951 117221951 single base substitution T A intron_variant BRCA-EU X 117222235 117222235 single base substitution C T intron_variant BRCA-EU X 117224076 117224076 single base substitution C A intron_variant BRCA-EU X 117224782 117224782 single base substitution A T intron_variant BRCA-EU X 117225285 117225285 single base substitution T G intron_variant BRCA-EU X 117225957 117225957 single base substitution G A intron_variant BRCA-EU X 117226257 117226257 single base substitution T A intron_variant BRCA-EU X 117227427 117227427 single base substitution A T intron_variant BRCA-EU X 117228103 117228103 single base substitution G C intron_variant BRCA-EU X 117228752 117228752 single base substitution T A intron_variant BRCA-EU X 117229656 117229656 single base substitution C G intron_variant BRCA-EU X 117231811 117231811 single base substitution A C intron_variant BRCA-EU X 117233763 117233763 single base substitution C G intron_variant BRCA-EU X 117234155 117234155 single base substitution G A intron_variant BRCA-EU X 117234968 117234968 single base substitution T C intron_variant BRCA-EU X 117235873 117235873 single base substitution C T intron_variant BRCA-EU X 117236632 117236632 single base substitution G T intron_variant BRCA-EU X 117238185 117238186 deletion of <=200bp AA - intron_variant BRCA-EU X 117238501 117238501 single base substitution C T intron_variant BRCA-EU X 117238756 117238756 single base substitution A T intron_variant BRCA-EU X 117238968 117238968 single base substitution T G intron_variant BRCA-EU X 117239703 117239703 single base substitution A G intron_variant BRCA-EU X 117242004 117242004 single base substitution T A intron_variant BRCA-EU X 117243025 117243025 single base substitution C T intron_variant BRCA-EU X 117243895 117243895 single base substitution G C intron_variant BRCA-EU X 117244703 117244703 deletion of <=200bp A - intron_variant BRCA-EU X 117245481 117245481 single base substitution G A intron_variant BRCA-EU X 117246172 117246172 single base substitution T A intron_variant BRCA-EU X 117248247 117248247 single base substitution G C intron_variant BRCA-EU X 117249249 117249249 single base substitution C T intron_variant BRCA-EU X 117249436 117249436 single base substitution T G intron_variant BRCA-EU X 117251070 117251070 single base substitution A G intron_variant BRCA-EU X 117251070 117251070 single base substitution A G upstream_gene_variant BRCA-EU X 117251756 117251756 single base substitution G C upstream_gene_variant BRCA-EU X 117251873 117251873 single base substitution T C upstream_gene_variant BRCA-EU X 117251989 117251989 single base substitution A G upstream_gene_variant BRCA-EU X 117252575 117252575 single base substitution G C upstream_gene_variant BRCA-EU X 117253998 117253998 single base substitution G T upstream_gene_variant BRCA-EU X 117255245 117255245 single base substitution G A upstream_gene_variant BRCA-EU X 117255704 117255704 single base substitution A G upstream_gene_variant BRCA-EU X 117255812 117255812 single base substitution C T upstream_gene_variant BRCA-EU X 117256028 117256028 single base substitution C T upstream_gene_variant BRCA-EU X 117256046 117256046 single base substitution C A upstream_gene_variant BRCA-FR X 117028900 117028900 single base substitution C A downstream_gene_variant BRCA-FR X 117032150 117032150 single base substitution A T 3_prime_UTR_variant BRCA-FR X 117032150 117032150 single base substitution A T downstream_gene_variant BRCA-FR X 117038288 117038288 single base substitution A G intron_variant BRCA-FR X 117038766 117038766 single base substitution G A intron_variant BRCA-FR X 117039417 117039417 single base substitution G A intron_variant BRCA-FR X 117042413 117042413 single base substitution C G intron_variant BRCA-FR X 117045595 117045595 single base substitution G A intron_variant BRCA-FR X 117058207 117058207 single base substitution C A intron_variant BRCA-FR X 117090051 117090051 single base substitution C A intron_variant BRCA-FR X 117090202 117090202 single base substitution A T intron_variant BRCA-FR X 117100285 117100285 single base substitution G C intron_variant BRCA-FR X 117101231 117101231 single base substitution C G intron_variant BRCA-FR X 117110706 117110706 single base substitution C G intron_variant BRCA-FR X 117110706 117110706 single base substitution C G upstream_gene_variant BRCA-FR X 117110862 117110862 single base substitution T C intron_variant BRCA-FR X 117110862 117110862 single base substitution T C upstream_gene_variant BRCA-FR X 117113840 117113840 single base substitution C G intron_variant BRCA-FR X 117119603 117119603 single base substitution G C intron_variant BRCA-FR X 117119603 117119603 single base substitution G C upstream_gene_variant BRCA-FR X 117121007 117121007 single base substitution G A intron_variant BRCA-FR X 117121007 117121007 single base substitution G A upstream_gene_variant BRCA-FR X 117121739 117121739 single base substitution C T intron_variant BRCA-FR X 117121739 117121739 single base substitution C T upstream_gene_variant BRCA-FR X 117122401 117122401 single base substitution G T intron_variant BRCA-FR X 117122401 117122401 single base substitution G T upstream_gene_variant BRCA-FR X 117124737 117124737 single base substitution C G intron_variant BRCA-FR X 117132177 117132177 single base substitution G C intron_variant BRCA-FR X 117137033 117137033 single base substitution G A intron_variant BRCA-FR X 117141567 117141567 single base substitution G A intron_variant BRCA-FR X 117147559 117147559 single base substitution C A intron_variant BRCA-FR X 117160284 117160284 single base substitution G C intron_variant BRCA-FR X 117164298 117164298 single base substitution T A intron_variant BRCA-FR X 117164298 117164298 single base substitution T A upstream_gene_variant BRCA-FR X 117164436 117164436 single base substitution C T intron_variant BRCA-FR X 117164436 117164436 single base substitution C T upstream_gene_variant BRCA-FR X 117177428 117177428 single base substitution G T intron_variant BRCA-FR X 117186112 117186112 single base substitution G T intron_variant BRCA-FR X 117193349 117193349 single base substitution T C intron_variant BRCA-FR X 117198849 117198849 single base substitution T C intron_variant BRCA-FR X 117198920 117198920 single base substitution T A intron_variant BRCA-FR X 117200210 117200210 single base substitution G T intron_variant BRCA-FR X 117205407 117205407 single base substitution C T intron_variant BRCA-FR X 117208768 117208768 single base substitution C G intron_variant BRCA-FR X 117228103 117228103 single base substitution G C intron_variant BRCA-FR X 117233557 117233557 single base substitution G C intron_variant BRCA-FR X 117234155 117234155 single base substitution G A intron_variant BRCA-FR X 117238682 117238682 single base substitution C A intron_variant BRCA-FR X 117238756 117238756 single base substitution A T intron_variant BRCA-FR X 117243895 117243895 single base substitution G C intron_variant BRCA-FR X 117251247 117251247 single base substitution G T 5_prime_UTR_variant BRCA-FR X 117251247 117251247 single base substitution G T upstream_gene_variant BRCA-FR X 117251553 117251553 single base substitution C A upstream_gene_variant BRCA-FR X 117255704 117255704 single base substitution A G upstream_gene_variant BRCA-UK X 117054324 117054324 single base substitution G T missense_variant Q33K 97C>A BRCA-UK X 117054324 117054324 single base substitution G T missense_variant Q42K 124C>A BRCA-UK X 117054324 117054324 single base substitution G T missense_variant Q68K 202C>A BRCA-UK X 117054324 117054324 single base substitution G T missense_variant Q84K 250C>A BRCA-UK X 117054324 117054324 single base substitution G T missense_variant Q87K 259C>A BRCA-UK X 117070730 117070730 single base substitution A C intron_variant BRCA-UK X 117070731 117070731 single base substitution T A intron_variant BRCA-UK X 117074257 117074257 single base substitution T G intron_variant BRCA-UK X 117079536 117079536 single base substitution G T 5_prime_UTR_variant BRCA-UK X 117079536 117079536 single base substitution G T missense_variant S18Y 53C>A BRCA-UK X 117079536 117079536 single base substitution G T missense_variant S34Y 101C>A BRCA-UK X 117079536 117079536 single base substitution G T missense_variant S37Y 110C>A BRCA-UK X 117079536 117079536 single base substitution G T splice_region_variant BRCA-UK X 117080736 117080736 single base substitution C T 5_prime_UTR_variant BRCA-UK X 117080736 117080736 single base substitution C T intron_variant BRCA-UK X 117083428 117083428 single base substitution G T intron_variant BRCA-UK X 117083428 117083428 single base substitution G T upstream_gene_variant BRCA-UK X 117087398 117087398 single base substitution G A intron_variant BRCA-UK X 117133509 117133509 single base substitution G T intron_variant BRCA-UK X 117134938 117134938 single base substitution G T intron_variant BRCA-UK X 117164608 117164608 single base substitution G T intron_variant BRCA-UK X 117164608 117164608 single base substitution G T upstream_gene_variant BRCA-UK X 117174130 117174130 single base substitution T G intron_variant BRCA-UK X 117183195 117183195 single base substitution G C intron_variant BRCA-UK X 117196276 117196276 single base substitution C T intron_variant BRCA-UK X 117223977 117223977 single base substitution G C intron_variant BRCA-US X 117033137 117033137 single base substitution T G missense_variant T517P 1549A>C BRCA-US X 117033137 117033137 single base substitution T G missense_variant T526P 1576A>C BRCA-US X 117033137 117033137 single base substitution T G missense_variant T552P 1654A>C BRCA-US X 117033137 117033137 single base substitution T G missense_variant T568P 1702A>C BRCA-US X 117033137 117033137 single base substitution T G missense_variant T571P 1711A>C BRCA-US X 117033283 117033283 single base substitution G A missense_variant A468V 1403C>T BRCA-US X 117033283 117033283 single base substitution G A missense_variant A477V 1430C>T BRCA-US X 117033283 117033283 single base substitution G A missense_variant A503V 1508C>T BRCA-US X 117033283 117033283 single base substitution G A missense_variant A519V 1556C>T BRCA-US X 117033283 117033283 single base substitution G A missense_variant A522V 1565C>T BRCA-US X 117033310 117033310 single base substitution G C missense_variant P459R 1376C>G BRCA-US X 117033310 117033310 single base substitution G C missense_variant P468R 1403C>G BRCA-US X 117033310 117033310 single base substitution G C missense_variant P494R 1481C>G BRCA-US X 117033310 117033310 single base substitution G C missense_variant P510R 1529C>G BRCA-US X 117033310 117033310 single base substitution G C missense_variant P513R 1538C>G BRCA-US X 117044002 117044002 single base substitution C T missense_variant E159K 475G>A BRCA-US X 117044002 117044002 single base substitution C T missense_variant E168K 502G>A BRCA-US X 117044002 117044002 single base substitution C T missense_variant E194K 580G>A BRCA-US X 117044002 117044002 single base substitution C T missense_variant E210K 628G>A BRCA-US X 117044002 117044002 single base substitution C T missense_variant E213K 637G>A BRCA-US X 117053569 117053569 single base substitution T C downstream_gene_variant BRCA-US X 117053569 117053569 single base substitution T C missense_variant D111G 332A>G BRCA-US X 117053569 117053569 single base substitution T C missense_variant D120G 359A>G BRCA-US X 117053569 117053569 single base substitution T C missense_variant D146G 437A>G BRCA-US X 117053569 117053569 single base substitution T C missense_variant D162G 485A>G BRCA-US X 117053569 117053569 single base substitution T C missense_variant D165G 494A>G BRCA-US X 117054217 117054217 single base substitution G C downstream_gene_variant BRCA-US X 117054217 117054217 single base substitution G C missense_variant F103L 309C>G BRCA-US X 117054217 117054217 single base substitution G C missense_variant F119L 357C>G BRCA-US X 117054217 117054217 single base substitution G C missense_variant F122L 366C>G BRCA-US X 117054217 117054217 single base substitution G C missense_variant F68L 204C>G BRCA-US X 117054217 117054217 single base substitution G C missense_variant F77L 231C>G BTCA-JP X 117032846 117032846 single base substitution C T 3_prime_UTR_variant BTCA-JP X 117035728 117035728 single base substitution T C intron_variant BTCA-JP X 117079488 117079488 single base substitution C T 5_prime_UTR_variant BTCA-JP X 117079488 117079488 single base substitution C T missense_variant S34N 101G>A BTCA-JP X 117079488 117079488 single base substitution C T missense_variant S50N 149G>A BTCA-JP X 117079488 117079488 single base substitution C T missense_variant S53N 158G>A BTCA-JP X 117079488 117079488 single base substitution C T missense_variant S8N 23G>A BTCA-JP X 117117399 117117400 deletion of <=200bp AA - intron_variant BTCA-JP X 117162549 117162549 single base substitution C A intron_variant BTCA-JP X 117162549 117162549 single base substitution C A upstream_gene_variant CESC-US X 117043457 117043457 single base substitution G C synonymous_variant L340L 1020C>G CESC-US X 117043457 117043457 single base substitution G C synonymous_variant L349L 1047C>G CESC-US X 117043457 117043457 single base substitution G C synonymous_variant L375L 1125C>G CESC-US X 117043457 117043457 single base substitution G C synonymous_variant L391L 1173C>G CESC-US X 117043457 117043457 single base substitution G C synonymous_variant L394L 1182C>G CESC-US X 117053561 117053561 single base substitution G C downstream_gene_variant CESC-US X 117053561 117053561 single base substitution G C missense_variant Q114E 340C>G CESC-US X 117053561 117053561 single base substitution G C missense_variant Q123E 367C>G CESC-US X 117053561 117053561 single base substitution G C missense_variant Q149E 445C>G CESC-US X 117053561 117053561 single base substitution G C missense_variant Q165E 493C>G CESC-US X 117053561 117053561 single base substitution G C missense_variant Q168E 502C>G CESC-US X 117054302 117054302 single base substitution A C downstream_gene_variant CESC-US X 117054302 117054302 single base substitution A C missense_variant L40R 119T>G CESC-US X 117054302 117054302 single base substitution A C missense_variant L49R 146T>G CESC-US X 117054302 117054302 single base substitution A C missense_variant L75R 224T>G CESC-US X 117054302 117054302 single base substitution A C missense_variant L91R 272T>G CESC-US X 117054302 117054302 single base substitution A C missense_variant L94R 281T>G CESC-US X 117162393 117162393 single base substitution C T 5_prime_UTR_variant CESC-US X 117162393 117162393 single base substitution C T intron_variant CESC-US X 117162393 117162393 single base substitution C T missense_variant R15H 44G>A CLLE-ES X 117030265 117030265 single base substitution A T downstream_gene_variant CLLE-ES X 117033703 117033703 single base substitution G A intron_variant CLLE-ES X 117037780 117037780 single base substitution A C intron_variant CLLE-ES X 117044163 117044163 single base substitution A C intron_variant CLLE-ES X 117051866 117051866 single base substitution C A downstream_gene_variant CLLE-ES X 117051866 117051866 single base substitution C A intron_variant CLLE-ES X 117059610 117059610 single base substitution G T intron_variant CLLE-ES X 117064225 117064225 single base substitution A G intron_variant CLLE-ES X 117070172 117070172 single base substitution C T intron_variant CLLE-ES X 117073251 117073251 single base substitution C A intron_variant CLLE-ES X 117074120 117074120 single base substitution T C intron_variant CLLE-ES X 117078335 117078335 single base substitution T G intron_variant CLLE-ES X 117103055 117103055 single base substitution C T intron_variant CLLE-ES X 117118484 117118484 single base substitution C G intron_variant CLLE-ES X 117124262 117124262 single base substitution T A intron_variant CLLE-ES X 117124262 117124262 single base substitution T A upstream_gene_variant CLLE-ES X 117133281 117133281 single base substitution A C intron_variant CLLE-ES X 117136284 117136284 single base substitution G A intron_variant CLLE-ES X 117147528 117147528 single base substitution A G intron_variant CLLE-ES X 117170601 117170601 single base substitution C A intron_variant CLLE-ES X 117181306 117181306 single base substitution G T intron_variant CLLE-ES X 117182841 117182841 single base substitution T C intron_variant CLLE-ES X 117209928 117209928 single base substitution G T intron_variant CLLE-ES X 117225892 117225892 single base substitution G T intron_variant CLLE-ES X 117238797 117238797 single base substitution G A intron_variant COAD-US X 117033340 117033340 single base substitution G T missense_variant T449N 1346C>A COAD-US X 117033340 117033340 single base substitution G T missense_variant T458N 1373C>A COAD-US X 117033340 117033340 single base substitution G T missense_variant T484N 1451C>A COAD-US X 117033340 117033340 single base substitution G T missense_variant T500N 1499C>A COAD-US X 117033340 117033340 single base substitution G T missense_variant T503N 1508C>A COAD-US X 117035805 117035805 single base substitution A G missense_variant Y440H 1318T>C COAD-US X 117035805 117035805 single base substitution A G missense_variant Y449H 1345T>C COAD-US X 117035805 117035805 single base substitution A G missense_variant Y475H 1423T>C COAD-US X 117035805 117035805 single base substitution A G missense_variant Y491H 1471T>C COAD-US X 117035805 117035805 single base substitution A G missense_variant Y494H 1480T>C COAD-US X 117053529 117053529 single base substitution C A downstream_gene_variant COAD-US X 117053529 117053529 single base substitution C A missense_variant Q124H 372G>T COAD-US X 117053529 117053529 single base substitution C A missense_variant Q133H 399G>T COAD-US X 117053529 117053529 single base substitution C A missense_variant Q159H 477G>T COAD-US X 117053529 117053529 single base substitution C A missense_variant Q175H 525G>T COAD-US X 117053529 117053529 single base substitution C A missense_variant Q178H 534G>T COCA-CN X 117033355 117033355 single base substitution C T missense_variant G444E 1331G>A COCA-CN X 117033355 117033355 single base substitution C T missense_variant G453E 1358G>A COCA-CN X 117033355 117033355 single base substitution C T missense_variant G479E 1436G>A COCA-CN X 117033355 117033355 single base substitution C T missense_variant G495E 1484G>A COCA-CN X 117033355 117033355 single base substitution C T missense_variant G498E 1493G>A COCA-CN X 117054357 117054357 single base substitution T G intron_variant COCA-CN X 117079365 117079365 single base substitution G A intron_variant COCA-CN X 117117477 117117477 single base substitution C T 5_prime_UTR_variant COCA-CN X 117117477 117117477 single base substitution C T intron_variant COCA-CN X 117117477 117117477 single base substitution C T missense_variant D25N 73G>A COCA-CN X 117147945 117147945 single base substitution G A intron_variant COCA-CN X 117162522 117162522 single base substitution C A intron_variant COCA-CN X 117162522 117162522 single base substitution C A upstream_gene_variant EOPC-DE X 117121933 117121933 single base substitution T C intron_variant EOPC-DE X 117121933 117121933 single base substitution T C upstream_gene_variant EOPC-DE X 117135444 117135444 single base substitution C T intron_variant EOPC-DE X 117142199 117142199 single base substitution G A intron_variant ESCA-CN X 117162476 117162476 single base substitution A G intron_variant ESCA-CN X 117162476 117162476 single base substitution A G upstream_gene_variant GACA-CN X 117033239 117033239 single base substitution C A stop_gained G483* 1447G>T GACA-CN X 117033239 117033239 single base substitution C A stop_gained G492* 1474G>T GACA-CN X 117033239 117033239 single base substitution C A stop_gained G518* 1552G>T GACA-CN X 117033239 117033239 single base substitution C A stop_gained G534* 1600G>T GACA-CN X 117033239 117033239 single base substitution C A stop_gained G537* 1609G>T GBM-US X 117033178 117033178 single base substitution A T missense_variant V503D 1508T>A GBM-US X 117033178 117033178 single base substitution A T missense_variant V512D 1535T>A GBM-US X 117033178 117033178 single base substitution A T missense_variant V538D 1613T>A GBM-US X 117033178 117033178 single base substitution A T missense_variant V554D 1661T>A GBM-US X 117033178 117033178 single base substitution A T missense_variant V557D 1670T>A GBM-US X 117035907 117035907 single base substitution T C missense_variant T406A 1216A>G GBM-US X 117035907 117035907 single base substitution T C missense_variant T415A 1243A>G GBM-US X 117035907 117035907 single base substitution T C missense_variant T441A 1321A>G GBM-US X 117035907 117035907 single base substitution T C missense_variant T457A 1369A>G GBM-US X 117035907 117035907 single base substitution T C missense_variant T460A 1378A>G GBM-US X 117043736 117043736 single base substitution C T synonymous_variant T247T 741G>A GBM-US X 117043736 117043736 single base substitution C T synonymous_variant T256T 768G>A GBM-US X 117043736 117043736 single base substitution C T synonymous_variant T282T 846G>A GBM-US X 117043736 117043736 single base substitution C T synonymous_variant T298T 894G>A GBM-US X 117043736 117043736 single base substitution C T synonymous_variant T301T 903G>A GBM-US X 117054239 117054239 single base substitution A T downstream_gene_variant GBM-US X 117054239 117054239 single base substitution A T missense_variant M112K 335T>A GBM-US X 117054239 117054239 single base substitution A T missense_variant M115K 344T>A GBM-US X 117054239 117054239 single base substitution A T missense_variant M61K 182T>A GBM-US X 117054239 117054239 single base substitution A T missense_variant M70K 209T>A GBM-US X 117054239 117054239 single base substitution A T missense_variant M96K 287T>A KIRC-US X 117032986 117032986 deletion of <=200bp T - frameshift_variant K567 KIRC-US X 117032986 117032986 deletion of <=200bp T - frameshift_variant K576 KIRC-US X 117032986 117032986 deletion of <=200bp T - frameshift_variant K602 KIRC-US X 117032986 117032986 deletion of <=200bp T - frameshift_variant K618 KIRC-US X 117032986 117032986 deletion of <=200bp T - frameshift_variant K621 LAML-KR X 117064197 117064197 single base substitution A G intron_variant LAML-KR X 117125908 117125908 single base substitution T C intron_variant LAML-KR X 117143241 117143241 single base substitution G T intron_variant LAML-KR X 117143329 117143329 single base substitution G A intron_variant LAML-KR X 117143439 117143439 single base substitution C A intron_variant LAML-KR X 117144136 117144136 single base substitution A T intron_variant LAML-KR X 117144145 117144145 single base substitution C A intron_variant LAML-KR X 117170110 117170110 single base substitution T C intron_variant LAML-KR X 117205708 117205708 single base substitution T G intron_variant LGG-US X 117032912 117032912 single base substitution T G missense_variant T592P 1774A>C LGG-US X 117032912 117032912 single base substitution T G missense_variant T601P 1801A>C LGG-US X 117032912 117032912 single base substitution T G missense_variant T627P 1879A>C LGG-US X 117032912 117032912 single base substitution T G missense_variant T643P 1927A>C LGG-US X 117032912 117032912 single base substitution T G missense_variant T646P 1936A>C LGG-US X 117043975 117043975 single base substitution C T missense_variant V168I 502G>A LGG-US X 117043975 117043975 single base substitution C T missense_variant V177I 529G>A LGG-US X 117043975 117043975 single base substitution C T missense_variant V203I 607G>A LGG-US X 117043975 117043975 single base substitution C T missense_variant V219I 655G>A LGG-US X 117043975 117043975 single base substitution C T missense_variant V222I 664G>A LICA-FR X 117037525 117037525 single base substitution T C intron_variant LICA-FR X 117055797 117055797 single base substitution T C intron_variant LICA-FR X 117063257 117063257 single base substitution A G intron_variant LICA-FR X 117063917 117063917 single base substitution C A intron_variant LICA-FR X 117078730 117078730 single base substitution A G intron_variant LICA-FR X 117092908 117092908 single base substitution G C intron_variant LICA-FR X 117096110 117096110 single base substitution C T intron_variant LICA-FR X 117116736 117116736 single base substitution T A intron_variant LICA-FR X 117164247 117164247 single base substitution C A intron_variant LICA-FR X 117164247 117164247 single base substitution C A upstream_gene_variant LICA-FR X 117168293 117168293 single base substitution C A intron_variant LICA-FR X 117187763 117187763 single base substitution A T intron_variant LICA-FR X 117222006 117222006 single base substitution G A intron_variant LICA-FR X 117223573 117223573 single base substitution G A intron_variant LICA-FR X 117223584 117223584 insertion of <=200bp - AGAA intron_variant LICA-FR X 117246262 117246262 single base substitution A G intron_variant LIHC-US X 117053530 117053536 deletion of <=200bp TGTAGGA - downstream_gene_variant LIHC-US X 117053530 117053536 deletion of <=200bp TGTAGGA - frameshift_variant FLQ122 LIHC-US X 117053530 117053536 deletion of <=200bp TGTAGGA - frameshift_variant FLQ131 LIHC-US X 117053530 117053536 deletion of <=200bp TGTAGGA - frameshift_variant FLQ157 LIHC-US X 117053530 117053536 deletion of <=200bp TGTAGGA - frameshift_variant FLQ173 LIHC-US X 117053530 117053536 deletion of <=200bp TGTAGGA - frameshift_variant FLQ176 LINC-JP X 117033077 117033077 single base substitution T C missense_variant K537E 1609A>G LINC-JP X 117033077 117033077 single base substitution T C missense_variant K546E 1636A>G LINC-JP X 117033077 117033077 single base substitution T C missense_variant K572E 1714A>G LINC-JP X 117033077 117033077 single base substitution T C missense_variant K588E 1762A>G LINC-JP X 117033077 117033077 single base substitution T C missense_variant K591E 1771A>G LINC-JP X 117047811 117047811 single base substitution G A intron_variant LINC-JP X 117061751 117061751 single base substitution C T intron_variant LINC-JP X 117065185 117065185 single base substitution A G intron_variant LINC-JP X 117070299 117070299 single base substitution C T intron_variant LINC-JP X 117079710 117079710 single base substitution A G 5_prime_UTR_variant LINC-JP X 117079710 117079710 single base substitution A G intron_variant LINC-JP X 117084302 117084302 single base substitution T G intron_variant LINC-JP X 117084302 117084302 single base substitution T G upstream_gene_variant LINC-JP X 117150352 117150352 single base substitution G A intron_variant LINC-JP X 117157034 117157034 single base substitution T A intron_variant LINC-JP X 117157035 117157035 single base substitution A T intron_variant LINC-JP X 117164562 117164562 single base substitution G A intron_variant LINC-JP X 117164562 117164562 single base substitution G A upstream_gene_variant LINC-JP X 117185154 117185154 deletion of <=200bp A - intron_variant LINC-JP X 117249305 117249305 single base substitution C A intron_variant LIRI-JP X 117028164 117028164 single base substitution G T downstream_gene_variant LIRI-JP X 117031513 117031513 single base substitution A C downstream_gene_variant LIRI-JP X 117032676 117032676 single base substitution T C 3_prime_UTR_variant LIRI-JP X 117033032 117033032 single base substitution C A missense_variant V552L 1654G>T LIRI-JP X 117033032 117033032 single base substitution C A missense_variant V561L 1681G>T LIRI-JP X 117033032 117033032 single base substitution C A missense_variant V587L 1759G>T LIRI-JP X 117033032 117033032 single base substitution C A missense_variant V603L 1807G>T LIRI-JP X 117033032 117033032 single base substitution C A missense_variant V606L 1816G>T LIRI-JP X 117037209 117037209 single base substitution A G intron_variant LIRI-JP X 117037536 117037536 single base substitution G T intron_variant LIRI-JP X 117037875 117037875 single base substitution T C intron_variant LIRI-JP X 117038989 117038989 single base substitution T C intron_variant LIRI-JP X 117042567 117042567 single base substitution T C intron_variant LIRI-JP X 117043066 117043066 single base substitution G A intron_variant LIRI-JP X 117043838 117043838 single base substitution C A missense_variant W213C 639G>T LIRI-JP X 117043838 117043838 single base substitution C A missense_variant W222C 666G>T LIRI-JP X 117043838 117043838 single base substitution C A missense_variant W248C 744G>T LIRI-JP X 117043838 117043838 single base substitution C A missense_variant W264C 792G>T LIRI-JP X 117043838 117043838 single base substitution C A missense_variant W267C 801G>T LIRI-JP X 117044247 117044247 single base substitution T G intron_variant LIRI-JP X 117044415 117044415 single base substitution C A intron_variant LIRI-JP X 117047263 117047264 deletion of <=200bp AA - intron_variant LIRI-JP X 117048172 117048172 single base substitution T C intron_variant LIRI-JP X 117050425 117050428 deletion of <=200bp TAAG - downstream_gene_variant LIRI-JP X 117050425 117050428 deletion of <=200bp TAAG - intron_variant LIRI-JP X 117053895 117053895 single base substitution A G downstream_gene_variant LIRI-JP X 117053895 117053895 single base substitution A G intron_variant LIRI-JP X 117056592 117056592 single base substitution C A intron_variant LIRI-JP X 117057071 117057071 single base substitution G A intron_variant LIRI-JP X 117062709 117062709 single base substitution C A intron_variant LIRI-JP X 117063203 117063203 single base substitution T C intron_variant LIRI-JP X 117066773 117066773 single base substitution A G intron_variant LIRI-JP X 117068005 117068005 single base substitution T C intron_variant LIRI-JP X 117070523 117070523 single base substitution G A intron_variant LIRI-JP X 117072501 117072501 single base substitution A G intron_variant LIRI-JP X 117073009 117073009 single base substitution C A intron_variant LIRI-JP X 117079272 117079272 single base substitution C T intron_variant LIRI-JP X 117080062 117080062 single base substitution C A 5_prime_UTR_variant LIRI-JP X 117080062 117080062 single base substitution C A intron_variant LIRI-JP X 117080715 117080715 single base substitution T C 5_prime_UTR_premature_start_codon_gain_variant LIRI-JP X 117080715 117080715 single base substitution T C intron_variant LIRI-JP X 117083596 117083596 single base substitution C T intron_variant LIRI-JP X 117083596 117083596 single base substitution C T upstream_gene_variant LIRI-JP X 117087585 117087585 single base substitution C T intron_variant LIRI-JP X 117089652 117089652 single base substitution A G intron_variant LIRI-JP X 117090014 117090014 single base substitution T A intron_variant LIRI-JP X 117090094 117090094 single base substitution A G intron_variant LIRI-JP X 117093324 117093324 single base substitution T C intron_variant LIRI-JP X 117098209 117098209 single base substitution G A intron_variant LIRI-JP X 117100738 117100738 single base substitution T A intron_variant LIRI-JP X 117103252 117103252 single base substitution T C intron_variant LIRI-JP X 117104348 117104348 single base substitution C T intron_variant LIRI-JP X 117106922 117106922 single base substitution C G 5_prime_UTR_variant LIRI-JP X 117106922 117106922 single base substitution C G intron_variant LIRI-JP X 117108220 117108220 single base substitution C A intron_variant LIRI-JP X 117108220 117108220 single base substitution C A upstream_gene_variant LIRI-JP X 117108221 117108221 single base substitution T C intron_variant LIRI-JP X 117108221 117108221 single base substitution T C upstream_gene_variant LIRI-JP X 117109579 117109579 single base substitution C T intron_variant LIRI-JP X 117109579 117109579 single base substitution C T upstream_gene_variant LIRI-JP X 117113375 117113375 single base substitution T A intron_variant LIRI-JP X 117113597 117113599 deletion of <=200bp TGT - intron_variant LIRI-JP X 117113759 117113759 single base substitution T C intron_variant LIRI-JP X 117113947 117113947 single base substitution C G intron_variant LIRI-JP X 117116986 117116986 single base substitution G T intron_variant LIRI-JP X 117117711 117117711 single base substitution C T intron_variant LIRI-JP X 117118012 117118012 single base substitution T C intron_variant LIRI-JP X 117118770 117118770 single base substitution T A intron_variant LIRI-JP X 117120273 117120273 single base substitution A G intron_variant LIRI-JP X 117120273 117120273 single base substitution A G upstream_gene_variant LIRI-JP X 117121155 117121155 single base substitution A G intron_variant LIRI-JP X 117121155 117121155 single base substitution A G upstream_gene_variant LIRI-JP X 117121392 117121392 single base substitution T A intron_variant LIRI-JP X 117121392 117121392 single base substitution T A upstream_gene_variant LIRI-JP X 117121512 117121512 single base substitution C G intron_variant LIRI-JP X 117121512 117121512 single base substitution C G upstream_gene_variant LIRI-JP X 117124071 117124071 single base substitution C A intron_variant LIRI-JP X 117124071 117124071 single base substitution C A upstream_gene_variant LIRI-JP X 117124702 117124702 single base substitution G A intron_variant LIRI-JP X 117140002 117140002 single base substitution T G intron_variant LIRI-JP X 117156485 117156485 single base substitution T C intron_variant LIRI-JP X 117157067 117157067 single base substitution A G intron_variant LIRI-JP X 117157393 117157393 single base substitution T C intron_variant LIRI-JP X 117157872 117157872 single base substitution A G intron_variant LIRI-JP X 117158569 117158569 single base substitution C A intron_variant LIRI-JP X 117159330 117159330 single base substitution G C intron_variant LIRI-JP X 117160185 117160185 single base substitution G A intron_variant LIRI-JP X 117160206 117160206 single base substitution T C intron_variant LIRI-JP X 117160719 117160719 single base substitution T C intron_variant LIRI-JP X 117171853 117171853 single base substitution C G intron_variant LIRI-JP X 117172004 117172004 single base substitution T C intron_variant LIRI-JP X 117182020 117182020 single base substitution G C intron_variant LIRI-JP X 117185145 117185145 single base substitution A C intron_variant LIRI-JP X 117186139 117186139 single base substitution T C intron_variant LIRI-JP X 117189583 117189583 single base substitution G A intron_variant LIRI-JP X 117190122 117190122 single base substitution T C intron_variant LIRI-JP X 117192707 117192707 single base substitution A G intron_variant LIRI-JP X 117193149 117193149 single base substitution T C intron_variant LIRI-JP X 117197293 117197293 single base substitution T A intron_variant LIRI-JP X 117198297 117198299 deletion of <=200bp TCT - intron_variant LIRI-JP X 117199359 117199359 deletion of <=200bp A - intron_variant LIRI-JP X 117201244 117201244 single base substitution G A intron_variant LIRI-JP X 117204123 117204123 single base substitution T A intron_variant LIRI-JP X 117204739 117204739 single base substitution T C intron_variant LIRI-JP X 117206588 117206588 single base substitution A C intron_variant LIRI-JP X 117206949 117206949 single base substitution C G intron_variant LIRI-JP X 117215433 117215433 single base substitution A G intron_variant LIRI-JP X 117217442 117217442 single base substitution C T intron_variant LIRI-JP X 117222065 117222065 single base substitution C T intron_variant LIRI-JP X 117224364 117224364 single base substitution C T intron_variant LIRI-JP X 117225874 117225874 single base substitution A G intron_variant LIRI-JP X 117226182 117226182 single base substitution A G intron_variant LIRI-JP X 117227388 117227388 single base substitution A G intron_variant LIRI-JP X 117228500 117228500 single base substitution G C intron_variant LIRI-JP X 117230725 117230725 single base substitution G A intron_variant LIRI-JP X 117238716 117238716 single base substitution T C intron_variant LIRI-JP X 117242242 117242242 single base substitution A G intron_variant LIRI-JP X 117244249 117244249 single base substitution T C intron_variant LIRI-JP X 117245924 117245924 single base substitution C A intron_variant LIRI-JP X 117248208 117248208 single base substitution T C intron_variant LIRI-JP X 117249042 117249042 single base substitution T C intron_variant LIRI-JP X 117249850 117249850 single base substitution A G intron_variant LIRI-JP X 117249895 117249895 single base substitution A G intron_variant LUSC-KR X 117035475 117035475 single base substitution T C intron_variant LUSC-KR X 117038373 117038373 single base substitution A C intron_variant LUSC-KR X 117041878 117041878 single base substitution G T intron_variant LUSC-KR X 117047523 117047523 single base substitution A G intron_variant LUSC-KR X 117049661 117049661 single base substitution G C downstream_gene_variant LUSC-KR X 117049661 117049661 single base substitution G C intron_variant LUSC-KR X 117052034 117052034 single base substitution C T downstream_gene_variant LUSC-KR X 117052034 117052034 single base substitution C T intron_variant LUSC-KR X 117060127 117060127 single base substitution T C intron_variant LUSC-KR X 117062037 117062037 single base substitution T C intron_variant LUSC-KR X 117062232 117062232 single base substitution C T intron_variant LUSC-KR X 117063754 117063754 single base substitution A T intron_variant LUSC-KR X 117077284 117077284 single base substitution G C intron_variant LUSC-KR X 117078403 117078403 single base substitution G C intron_variant LUSC-KR X 117081695 117081695 single base substitution C T 5_prime_UTR_variant LUSC-KR X 117081695 117081695 single base substitution C T intron_variant LUSC-KR X 117086272 117086272 single base substitution T A intron_variant LUSC-KR X 117086272 117086272 single base substitution T A upstream_gene_variant LUSC-KR X 117097845 117097845 single base substitution G A intron_variant LUSC-KR X 117121854 117121854 single base substitution G A intron_variant LUSC-KR X 117121854 117121854 single base substitution G A upstream_gene_variant LUSC-KR X 117136232 117136232 single base substitution G C intron_variant LUSC-KR X 117136788 117136788 single base substitution T G intron_variant LUSC-KR X 117143089 117143089 single base substitution G C intron_variant LUSC-KR X 117143241 117143241 single base substitution G T intron_variant LUSC-KR X 117144135 117144135 single base substitution G A intron_variant LUSC-KR X 117144136 117144136 single base substitution A T intron_variant LUSC-KR X 117144145 117144145 single base substitution C A intron_variant LUSC-KR X 117146549 117146549 single base substitution G A intron_variant LUSC-KR X 117154461 117154461 single base substitution G T intron_variant LUSC-KR X 117156076 117156076 single base substitution T C intron_variant LUSC-KR X 117163611 117163611 single base substitution T C intron_variant LUSC-KR X 117163611 117163611 single base substitution T C upstream_gene_variant LUSC-KR X 117163982 117163982 single base substitution G C intron_variant LUSC-KR X 117163982 117163982 single base substitution G C upstream_gene_variant LUSC-KR X 117167333 117167333 single base substitution C A intron_variant LUSC-KR X 117167333 117167333 single base substitution C A upstream_gene_variant LUSC-KR X 117168225 117168225 single base substitution C A intron_variant LUSC-KR X 117170110 117170110 single base substitution T C intron_variant LUSC-KR X 117170339 117170339 single base substitution G T intron_variant LUSC-KR X 117171075 117171075 single base substitution G A intron_variant LUSC-KR X 117175954 117175954 single base substitution A T intron_variant LUSC-KR X 117179366 117179366 single base substitution T A intron_variant LUSC-KR X 117181324 117181324 single base substitution G T intron_variant LUSC-KR X 117181954 117181954 single base substitution C T intron_variant LUSC-KR X 117193526 117193526 single base substitution G A intron_variant LUSC-KR X 117196293 117196293 single base substitution T C intron_variant LUSC-KR X 117200437 117200437 single base substitution C G intron_variant LUSC-KR X 117212363 117212363 single base substitution G C intron_variant LUSC-KR X 117216099 117216099 single base substitution A G intron_variant LUSC-KR X 117219126 117219126 single base substitution T C intron_variant LUSC-KR X 117224649 117224649 single base substitution T A intron_variant LUSC-KR X 117228397 117228397 single base substitution A G intron_variant LUSC-KR X 117228699 117228699 single base substitution C T intron_variant LUSC-KR X 117228808 117228808 single base substitution G C intron_variant LUSC-KR X 117228907 117228907 single base substitution T C intron_variant LUSC-KR X 117229306 117229306 single base substitution C G intron_variant LUSC-KR X 117248836 117248836 single base substitution A C intron_variant LUSC-US X 117033294 117033294 single base substitution C A missense_variant W464C 1392G>T LUSC-US X 117033294 117033294 single base substitution C A missense_variant W473C 1419G>T LUSC-US X 117033294 117033294 single base substitution C A missense_variant W499C 1497G>T LUSC-US X 117033294 117033294 single base substitution C A missense_variant W515C 1545G>T LUSC-US X 117033294 117033294 single base substitution C A missense_variant W518C 1554G>T MALY-DE X 117031207 117031207 single base substitution G A downstream_gene_variant MALY-DE X 117032893 117032893 single base substitution T C missense_variant E598G 1793A>G MALY-DE X 117032893 117032893 single base substitution T C missense_variant E607G 1820A>G MALY-DE X 117032893 117032893 single base substitution T C missense_variant E633G 1898A>G MALY-DE X 117032893 117032893 single base substitution T C missense_variant E649G 1946A>G MALY-DE X 117032893 117032893 single base substitution T C missense_variant E652G 1955A>G MALY-DE X 117035416 117035416 single base substitution C T intron_variant MALY-DE X 117037099 117037100 deletion of <=200bp AC - intron_variant MALY-DE X 117037581 117037582 deletion of <=200bp TC - intron_variant MALY-DE X 117039469 117039470 deletion of <=200bp CA - intron_variant MALY-DE X 117046445 117046445 single base substitution A C intron_variant MALY-DE X 117046488 117046488 single base substitution G T intron_variant MALY-DE X 117046510 117046510 single base substitution G A intron_variant MALY-DE X 117048362 117048362 single base substitution A G intron_variant MALY-DE X 117051189 117051189 single base substitution C T downstream_gene_variant MALY-DE X 117051189 117051189 single base substitution C T intron_variant MALY-DE X 117051655 117051655 single base substitution T G downstream_gene_variant MALY-DE X 117051655 117051655 single base substitution T G intron_variant MALY-DE X 117055705 117055705 single base substitution A G intron_variant MALY-DE X 117056644 117056644 single base substitution T A intron_variant MALY-DE X 117058425 117058425 single base substitution C T intron_variant MALY-DE X 117058779 117058779 insertion of <=200bp - T intron_variant MALY-DE X 117061094 117061094 single base substitution T G intron_variant MALY-DE X 117062511 117062511 single base substitution T C intron_variant MALY-DE X 117065447 117065447 deletion of <=200bp T - intron_variant MALY-DE X 117067338 117067338 single base substitution G T intron_variant MALY-DE X 117071900 117071900 single base substitution T A intron_variant MALY-DE X 117074145 117074145 single base substitution C T intron_variant MALY-DE X 117074490 117074490 single base substitution G A intron_variant MALY-DE X 117078296 117078296 single base substitution C A intron_variant MALY-DE X 117078519 117078519 single base substitution A T intron_variant MALY-DE X 117079544 117079544 single base substitution A C 5_prime_UTR_variant MALY-DE X 117079544 117079544 single base substitution A C splice_region_variant MALY-DE X 117082399 117082399 single base substitution A G intron_variant MALY-DE X 117082399 117082399 single base substitution A G upstream_gene_variant MALY-DE X 117083383 117083383 single base substitution T G intron_variant MALY-DE X 117083383 117083383 single base substitution T G upstream_gene_variant MALY-DE X 117087191 117087191 single base substitution A G intron_variant MALY-DE X 117090455 117090455 single base substitution A T intron_variant MALY-DE X 117091463 117091463 single base substitution A G intron_variant MALY-DE X 117091474 117091474 single base substitution A G intron_variant MALY-DE X 117092695 117092695 single base substitution T A intron_variant MALY-DE X 117094185 117094185 insertion of <=200bp - A intron_variant MALY-DE X 117102104 117102104 single base substitution G A intron_variant MALY-DE X 117102396 117102396 single base substitution T G intron_variant MALY-DE X 117104921 117104921 single base substitution C A intron_variant MALY-DE X 117106020 117106020 single base substitution C A intron_variant MALY-DE X 117112101 117112101 single base substitution A C intron_variant MALY-DE X 117112101 117112101 single base substitution A C upstream_gene_variant MALY-DE X 117114184 117114184 single base substitution A G intron_variant MALY-DE X 117115911 117115911 single base substitution A C intron_variant MALY-DE X 117116283 117116283 single base substitution T C intron_variant MALY-DE X 117120596 117120596 single base substitution T C intron_variant MALY-DE X 117120596 117120596 single base substitution T C upstream_gene_variant MALY-DE X 117127570 117127570 single base substitution T C intron_variant MALY-DE X 117127599 117127599 single base substitution T C intron_variant MALY-DE X 117135713 117135713 single base substitution A C intron_variant MALY-DE X 117136199 117136199 single base substitution T C intron_variant MALY-DE X 117137013 117137013 single base substitution A T intron_variant MALY-DE X 117137312 117137312 single base substitution A T intron_variant MALY-DE X 117142437 117142437 single base substitution C T intron_variant MALY-DE X 117148582 117148582 single base substitution T G intron_variant MALY-DE X 117150359 117150359 single base substitution A G intron_variant MALY-DE X 117151614 117151614 single base substitution C T intron_variant MALY-DE X 117159962 117159962 single base substitution A C intron_variant MALY-DE X 117161612 117161613 deletion of <=200bp AC - intron_variant MALY-DE X 117162386 117162386 single base substitution C T intron_variant MALY-DE X 117162386 117162386 single base substitution C T splice_donor_variant MALY-DE X 117163178 117163178 single base substitution C A intron_variant MALY-DE X 117163178 117163178 single base substitution C A upstream_gene_variant MALY-DE X 117163931 117163931 insertion of <=200bp - A intron_variant MALY-DE X 117163931 117163931 insertion of <=200bp - A upstream_gene_variant MALY-DE X 117175977 117175977 single base substitution A C intron_variant MALY-DE X 117176443 117176443 deletion of <=200bp A - intron_variant MALY-DE X 117178274 117178274 single base substitution C T intron_variant MALY-DE X 117183323 117183323 single base substitution A G intron_variant MALY-DE X 117187607 117187607 insertion of <=200bp - A intron_variant MALY-DE X 117189894 117189894 single base substitution A G intron_variant MALY-DE X 117191444 117191444 single base substitution G A intron_variant MALY-DE X 117200171 117200171 single base substitution G A intron_variant MALY-DE X 117207070 117207070 single base substitution C A intron_variant MALY-DE X 117209540 117209540 single base substitution G C intron_variant MALY-DE X 117216728 117216728 single base substitution T C intron_variant MALY-DE X 117218989 117218991 deletion of <=200bp AAT - intron_variant MALY-DE X 117220511 117220511 single base substitution T G intron_variant MALY-DE X 117223026 117223026 single base substitution A C intron_variant MALY-DE X 117223070 117223070 deletion of <=200bp A - intron_variant MALY-DE X 117223088 117223088 single base substitution C A intron_variant MALY-DE X 117233845 117233845 single base substitution G T intron_variant MALY-DE X 117236095 117236095 single base substitution T G intron_variant MALY-DE X 117238298 117238298 single base substitution G A intron_variant MALY-DE X 117244642 117244642 single base substitution C T intron_variant MALY-DE X 117245090 117245090 single base substitution T C intron_variant MALY-DE X 117250235 117250235 single base substitution G A intron_variant MALY-DE X 117251423 117251423 single base substitution C T upstream_gene_variant MALY-DE X 117255954 117255954 single base substitution C A upstream_gene_variant MELA-AU X 117026863 117026863 single base substitution C T downstream_gene_variant MELA-AU X 117026973 117026973 single base substitution A T downstream_gene_variant MELA-AU X 117027014 117027014 single base substitution G A downstream_gene_variant MELA-AU X 117027126 117027126 single base substitution G A downstream_gene_variant MELA-AU X 117027240 117027240 single base substitution G A downstream_gene_variant MELA-AU X 117027476 117027476 single base substitution C T downstream_gene_variant MELA-AU X 117027492 117027492 single base substitution C T downstream_gene_variant MELA-AU X 117027510 117027510 single base substitution C T downstream_gene_variant MELA-AU X 117027517 117027517 single base substitution T C downstream_gene_variant MELA-AU X 117027522 117027522 single base substitution C T downstream_gene_variant MELA-AU X 117027534 117027534 single base substitution G A downstream_gene_variant MELA-AU X 117027543 117027543 single base substitution G A downstream_gene_variant MELA-AU X 117027544 117027544 single base substitution G A downstream_gene_variant MELA-AU X 117027598 117027598 single base substitution G A downstream_gene_variant MELA-AU X 117027604 117027604 single base substitution C T downstream_gene_variant MELA-AU X 117027605 117027605 single base substitution C T downstream_gene_variant MELA-AU X 117027689 117027689 single base substitution G A downstream_gene_variant MELA-AU X 117027876 117027876 single base substitution C T downstream_gene_variant MELA-AU X 117027937 117027937 single base substitution G A downstream_gene_variant MELA-AU X 117027955 117027955 single base substitution G A downstream_gene_variant MELA-AU X 117028113 117028113 single base substitution C T downstream_gene_variant MELA-AU X 117028130 117028130 single base substitution T C downstream_gene_variant MELA-AU X 117028240 117028240 single base substitution C T downstream_gene_variant MELA-AU X 117028256 117028256 single base substitution G A downstream_gene_variant MELA-AU X 117028394 117028394 single base substitution G A downstream_gene_variant MELA-AU X 117028462 117028463 multiple base substitution (>=2bp and <=200bp) GG AA downstream_gene_variant MELA-AU X 117028591 117028591 single base substitution G A downstream_gene_variant MELA-AU X 117028616 117028616 single base substitution A T downstream_gene_variant MELA-AU X 117028658 117028658 single base substitution A T downstream_gene_variant MELA-AU X 117028802 117028802 single base substitution C T downstream_gene_variant MELA-AU X 117028983 117028983 single base substitution G A downstream_gene_variant MELA-AU X 117029107 117029107 single base substitution C T downstream_gene_variant MELA-AU X 117029333 117029333 single base substitution G A downstream_gene_variant MELA-AU X 117029376 117029376 single base substitution C T downstream_gene_variant MELA-AU X 117029441 117029441 single base substitution G A downstream_gene_variant MELA-AU X 117029469 117029469 single base substitution T A downstream_gene_variant MELA-AU X 117029572 117029572 single base substitution G A downstream_gene_variant MELA-AU X 117029795 117029795 single base substitution C T downstream_gene_variant MELA-AU X 117029867 117029867 single base substitution G A downstream_gene_variant MELA-AU X 117030043 117030043 single base substitution C T downstream_gene_variant MELA-AU X 117030100 117030100 single base substitution A C downstream_gene_variant MELA-AU X 117030117 117030117 single base substitution C T downstream_gene_variant MELA-AU X 117030172 117030172 single base substitution T C downstream_gene_variant MELA-AU X 117030340 117030340 single base substitution C T downstream_gene_variant MELA-AU X 117030476 117030476 single base substitution C T downstream_gene_variant MELA-AU X 117030558 117030558 single base substitution G A downstream_gene_variant MELA-AU X 117030590 117030590 single base substitution G A downstream_gene_variant MELA-AU X 117030656 117030656 single base substitution C T downstream_gene_variant MELA-AU X 117030741 117030741 single base substitution G A downstream_gene_variant MELA-AU X 117030750 117030750 single base substitution G T downstream_gene_variant MELA-AU X 117030840 117030840 single base substitution G A downstream_gene_variant MELA-AU X 117030898 117030898 single base substitution C T downstream_gene_variant MELA-AU X 117030907 117030907 single base substitution G A downstream_gene_variant MELA-AU X 117030920 117030920 single base substitution G A downstream_gene_variant MELA-AU X 117030960 117030960 single base substitution C T downstream_gene_variant MELA-AU X 117031041 117031041 single base substitution T G downstream_gene_variant MELA-AU X 117031299 117031299 single base substitution G A downstream_gene_variant MELA-AU X 117031389 117031389 single base substitution C T downstream_gene_variant MELA-AU X 117031395 117031395 single base substitution G A downstream_gene_variant MELA-AU X 117031414 117031414 single base substitution C T downstream_gene_variant MELA-AU X 117031476 117031476 single base substitution G A downstream_gene_variant MELA-AU X 117031696 117031696 single base substitution C T downstream_gene_variant MELA-AU X 117031969 117031969 single base substitution A G 3_prime_UTR_variant MELA-AU X 117031969 117031969 single base substitution A G downstream_gene_variant MELA-AU X 117032271 117032271 single base substitution G A 3_prime_UTR_variant MELA-AU X 117032271 117032271 single base substitution G A downstream_gene_variant MELA-AU X 117032301 117032301 single base substitution G A 3_prime_UTR_variant MELA-AU X 117032301 117032301 single base substitution G A downstream_gene_variant MELA-AU X 117032386 117032386 single base substitution C T 3_prime_UTR_variant MELA-AU X 117032386 117032386 single base substitution C T downstream_gene_variant MELA-AU X 117032436 117032436 single base substitution C T 3_prime_UTR_variant MELA-AU X 117032436 117032436 single base substitution C T downstream_gene_variant MELA-AU X 117032464 117032464 single base substitution G A 3_prime_UTR_variant MELA-AU X 117032464 117032464 single base substitution G A downstream_gene_variant MELA-AU X 117032535 117032535 single base substitution C T 3_prime_UTR_variant MELA-AU X 117032661 117032661 single base substitution G A 3_prime_UTR_variant MELA-AU X 117032815 117032815 single base substitution G A 3_prime_UTR_variant MELA-AU X 117033027 117033027 single base substitution C T synonymous_variant E553E 1659G>A MELA-AU X 117033027 117033027 single base substitution C T synonymous_variant E562E 1686G>A MELA-AU X 117033027 117033027 single base substitution C T synonymous_variant E588E 1764G>A MELA-AU X 117033027 117033027 single base substitution C T synonymous_variant E604E 1812G>A MELA-AU X 117033027 117033027 single base substitution C T synonymous_variant E607E 1821G>A MELA-AU X 117033093 117033093 single base substitution G A synonymous_variant V531V 1593C>T MELA-AU X 117033093 117033093 single base substitution G A synonymous_variant V540V 1620C>T MELA-AU X 117033093 117033093 single base substitution G A synonymous_variant V566V 1698C>T MELA-AU X 117033093 117033093 single base substitution G A synonymous_variant V582V 1746C>T MELA-AU X 117033093 117033093 single base substitution G A synonymous_variant V585V 1755C>T MELA-AU X 117033150 117033150 single base substitution G A synonymous_variant I512I 1536C>T MELA-AU X 117033150 117033150 single base substitution G A synonymous_variant I521I 1563C>T MELA-AU X 117033150 117033150 single base substitution G A synonymous_variant I547I 1641C>T MELA-AU X 117033150 117033150 single base substitution G A synonymous_variant I563I 1689C>T MELA-AU X 117033150 117033150 single base substitution G A synonymous_variant I566I 1698C>T MELA-AU X 117033224 117033235 deletion of <=200bp CATAGAGCCTTT - disruptive_inframe_deletion ERLYV484V MELA-AU X 117033224 117033235 deletion of <=200bp CATAGAGCCTTT - disruptive_inframe_deletion ERLYV493V MELA-AU X 117033224 117033235 deletion of <=200bp CATAGAGCCTTT - disruptive_inframe_deletion ERLYV519V MELA-AU X 117033224 117033235 deletion of <=200bp CATAGAGCCTTT - disruptive_inframe_deletion ERLYV535V MELA-AU X 117033224 117033235 deletion of <=200bp CATAGAGCCTTT - disruptive_inframe_deletion ERLYV538V MELA-AU X 117033368 117033368 single base substitution G A intron_variant MELA-AU X 117033529 117033529 single base substitution G A intron_variant MELA-AU X 117033647 117033647 single base substitution G A intron_variant MELA-AU X 117033755 117033755 single base substitution C T intron_variant MELA-AU X 117033784 117033784 single base substitution C T intron_variant MELA-AU X 117033948 117033948 single base substitution C T intron_variant MELA-AU X 117034144 117034144 single base substitution G A intron_variant MELA-AU X 117034164 117034164 single base substitution G A intron_variant MELA-AU X 117034268 117034268 single base substitution C T intron_variant MELA-AU X 117034421 117034421 single base substitution C T intron_variant MELA-AU X 117034632 117034632 single base substitution C T intron_variant MELA-AU X 117034741 117034741 single base substitution C T intron_variant MELA-AU X 117034857 117034857 single base substitution G A intron_variant MELA-AU X 117035506 117035506 single base substitution C T intron_variant MELA-AU X 117035552 117035552 single base substitution C T intron_variant MELA-AU X 117035553 117035553 single base substitution C T intron_variant MELA-AU X 117035778 117035778 single base substitution C T intron_variant MELA-AU X 117036244 117036244 single base substitution G A intron_variant MELA-AU X 117036468 117036468 single base substitution C T intron_variant MELA-AU X 117036480 117036480 single base substitution C T intron_variant MELA-AU X 117036656 117036656 single base substitution G A intron_variant MELA-AU X 117036678 117036678 single base substitution A C intron_variant MELA-AU X 117036684 117036684 single base substitution G A intron_variant MELA-AU X 117036768 117036768 single base substitution C T intron_variant MELA-AU X 117036865 117036865 single base substitution G A intron_variant MELA-AU X 117036889 117036889 single base substitution G A intron_variant MELA-AU X 117036909 117036909 single base substitution C T intron_variant MELA-AU X 117036934 117036934 single base substitution G A intron_variant MELA-AU X 117037122 117037122 single base substitution G C intron_variant MELA-AU X 117037608 117037608 single base substitution C T intron_variant MELA-AU X 117037691 117037691 single base substitution T A intron_variant MELA-AU X 117037727 117037727 single base substitution A T intron_variant MELA-AU X 117037917 117037917 single base substitution T C intron_variant MELA-AU X 117038195 117038195 single base substitution G T intron_variant MELA-AU X 117038209 117038209 single base substitution C T intron_variant MELA-AU X 117038485 117038485 single base substitution A C intron_variant MELA-AU X 117038554 117038554 single base substitution G A intron_variant MELA-AU X 117038624 117038624 single base substitution C T intron_variant MELA-AU X 117038631 117038631 single base substitution C T intron_variant MELA-AU X 117038719 117038719 single base substitution G A intron_variant MELA-AU X 117038760 117038760 single base substitution G A intron_variant MELA-AU X 117038854 117038854 single base substitution G A intron_variant MELA-AU X 117038962 117038962 single base substitution G A intron_variant MELA-AU X 117039102 117039102 single base substitution C T intron_variant MELA-AU X 117039381 117039381 single base substitution C T intron_variant MELA-AU X 117039403 117039403 single base substitution G A intron_variant MELA-AU X 117039421 117039421 single base substitution G A intron_variant MELA-AU X 117039454 117039454 single base substitution G A intron_variant MELA-AU X 117039713 117039713 single base substitution T G intron_variant MELA-AU X 117039756 117039756 single base substitution C T intron_variant MELA-AU X 117039951 117039951 single base substitution G A intron_variant MELA-AU X 117040141 117040141 single base substitution T A intron_variant MELA-AU X 117040228 117040228 single base substitution G A intron_variant MELA-AU X 117040325 117040325 single base substitution G A intron_variant MELA-AU X 117040369 117040369 single base substitution G A intron_variant MELA-AU X 117040590 117040590 single base substitution G A intron_variant MELA-AU X 117040812 117040812 single base substitution G A intron_variant MELA-AU X 117040933 117040933 single base substitution G A intron_variant MELA-AU X 117040934 117040934 single base substitution G A intron_variant MELA-AU X 117040967 117040967 single base substitution C T intron_variant MELA-AU X 117041027 117041027 single base substitution G A intron_variant MELA-AU X 117041051 117041051 single base substitution C T intron_variant MELA-AU X 117041163 117041163 single base substitution T C intron_variant MELA-AU X 117041215 117041215 single base substitution T C intron_variant MELA-AU X 117041288 117041288 single base substitution G A intron_variant MELA-AU X 117041439 117041439 single base substitution C T intron_variant MELA-AU X 117041486 117041486 single base substitution G A intron_variant MELA-AU X 117041569 117041569 single base substitution G A intron_variant MELA-AU X 117041710 117041710 single base substitution C T intron_variant MELA-AU X 117041761 117041761 single base substitution G A intron_variant MELA-AU X 117041780 117041780 single base substitution G A intron_variant MELA-AU X 117042235 117042235 single base substitution C T intron_variant MELA-AU X 117042686 117042686 single base substitution G A intron_variant MELA-AU X 117042765 117042765 single base substitution G A intron_variant MELA-AU X 117042799 117042799 single base substitution G A intron_variant MELA-AU X 117042825 117042825 single base substitution G A intron_variant MELA-AU X 117042875 117042875 single base substitution G A intron_variant MELA-AU X 117042926 117042926 single base substitution G A intron_variant MELA-AU X 117043111 117043111 single base substitution A T intron_variant MELA-AU X 117043308 117043308 single base substitution C T missense_variant G390E 1169G>A MELA-AU X 117043308 117043308 single base substitution C T missense_variant G399E 1196G>A MELA-AU X 117043308 117043308 single base substitution C T missense_variant G425E 1274G>A MELA-AU X 117043308 117043308 single base substitution C T missense_variant G441E 1322G>A MELA-AU X 117043308 117043308 single base substitution C T missense_variant G444E 1331G>A MELA-AU X 117043419 117043419 single base substitution C T missense_variant G353E 1058G>A MELA-AU X 117043419 117043419 single base substitution C T missense_variant G362E 1085G>A MELA-AU X 117043419 117043419 single base substitution C T missense_variant G388E 1163G>A MELA-AU X 117043419 117043419 single base substitution C T missense_variant G404E 1211G>A MELA-AU X 117043419 117043419 single base substitution C T missense_variant G407E 1220G>A MELA-AU X 117043429 117043429 single base substitution C T missense_variant D350N 1048G>A MELA-AU X 117043429 117043429 single base substitution C T missense_variant D359N 1075G>A MELA-AU X 117043429 117043429 single base substitution C T missense_variant D385N 1153G>A MELA-AU X 117043429 117043429 single base substitution C T missense_variant D401N 1201G>A MELA-AU X 117043429 117043429 single base substitution C T missense_variant D404N 1210G>A MELA-AU X 117043518 117043518 single base substitution G A missense_variant S320L 959C>T MELA-AU X 117043518 117043518 single base substitution G A missense_variant S329L 986C>T MELA-AU X 117043518 117043518 single base substitution G A missense_variant S355L 1064C>T MELA-AU X 117043518 117043518 single base substitution G A missense_variant S371L 1112C>T MELA-AU X 117043518 117043518 single base substitution G A missense_variant S374L 1121C>T MELA-AU X 117043749 117043749 single base substitution T A missense_variant N243I 728A>T MELA-AU X 117043749 117043749 single base substitution T A missense_variant N252I 755A>T MELA-AU X 117043749 117043749 single base substitution T A missense_variant N278I 833A>T MELA-AU X 117043749 117043749 single base substitution T A missense_variant N294I 881A>T MELA-AU X 117043749 117043749 single base substitution T A missense_variant N297I 890A>T MELA-AU X 117043814 117043814 single base substitution C T missense_variant M221I 663G>A MELA-AU X 117043814 117043814 single base substitution C T missense_variant M230I 690G>A MELA-AU X 117043814 117043814 single base substitution C T missense_variant M256I 768G>A MELA-AU X 117043814 117043814 single base substitution C T missense_variant M272I 816G>A MELA-AU X 117043814 117043814 single base substitution C T missense_variant M275I 825G>A MELA-AU X 117043904 117043904 single base substitution G A synonymous_variant F191F 573C>T MELA-AU X 117043904 117043904 single base substitution G A synonymous_variant F200F 600C>T MELA-AU X 117043904 117043904 single base substitution G A synonymous_variant F226F 678C>T MELA-AU X 117043904 117043904 single base substitution G A synonymous_variant F242F 726C>T MELA-AU X 117043904 117043904 single base substitution G A synonymous_variant F245F 735C>T MELA-AU X 117043931 117043931 single base substitution C T synonymous_variant L182L 546G>A MELA-AU X 117043931 117043931 single base substitution C T synonymous_variant L191L 573G>A MELA-AU X 117043931 117043931 single base substitution C T synonymous_variant L217L 651G>A MELA-AU X 117043931 117043931 single base substitution C T synonymous_variant L233L 699G>A MELA-AU X 117043931 117043931 single base substitution C T synonymous_variant L236L 708G>A MELA-AU X 117043942 117043942 single base substitution C T missense_variant G179R 535G>A MELA-AU X 117043942 117043942 single base substitution C T missense_variant G188R 562G>A MELA-AU X 117043942 117043942 single base substitution C T missense_variant G214R 640G>A MELA-AU X 117043942 117043942 single base substitution C T missense_variant G230R 688G>A MELA-AU X 117043942 117043942 single base substitution C T missense_variant G233R 697G>A MELA-AU X 117043976 117043976 single base substitution G A synonymous_variant F167F 501C>T MELA-AU X 117043976 117043976 single base substitution G A synonymous_variant F176F 528C>T MELA-AU X 117043976 117043976 single base substitution G A synonymous_variant F202F 606C>T MELA-AU X 117043976 117043976 single base substitution G A synonymous_variant F218F 654C>T MELA-AU X 117043976 117043976 single base substitution G A synonymous_variant F221F 663C>T MELA-AU X 117043980 117043980 single base substitution C T missense_variant S166N 497G>A MELA-AU X 117043980 117043980 single base substitution C T missense_variant S175N 524G>A MELA-AU X 117043980 117043980 single base substitution C T missense_variant S201N 602G>A MELA-AU X 117043980 117043980 single base substitution C T missense_variant S217N 650G>A MELA-AU X 117043980 117043980 single base substitution C T missense_variant S220N 659G>A MELA-AU X 117044131 117044131 single base substitution C T intron_variant MELA-AU X 117044185 117044185 single base substitution G A intron_variant MELA-AU X 117044249 117044249 single base substitution C T intron_variant MELA-AU X 117044400 117044400 single base substitution C T intron_variant MELA-AU X 117044643 117044643 single base substitution G A intron_variant MELA-AU X 117044663 117044663 single base substitution T A intron_variant MELA-AU X 117044712 117044712 single base substitution G A intron_variant MELA-AU X 117044744 117044744 single base substitution G A intron_variant MELA-AU X 117044793 117044794 multiple base substitution (>=2bp and <=200bp) CC TT intron_variant MELA-AU X 117044926 117044926 single base substitution C T intron_variant MELA-AU X 117044977 117044977 single base substitution G A intron_variant MELA-AU X 117045235 117045235 single base substitution C T intron_variant MELA-AU X 117045310 117045310 single base substitution G A intron_variant MELA-AU X 117045329 117045329 single base substitution C T intron_variant MELA-AU X 117045533 117045533 single base substitution C T intron_variant MELA-AU X 117045682 117045682 single base substitution G A intron_variant MELA-AU X 117045688 117045688 single base substitution G A intron_variant MELA-AU X 117045751 117045751 single base substitution C T intron_variant MELA-AU X 117045962 117045962 single base substitution G A intron_variant MELA-AU X 117046024 117046024 single base substitution T C intron_variant MELA-AU X 117046054 117046054 single base substitution A G intron_variant MELA-AU X 117046259 117046259 single base substitution G A intron_variant MELA-AU X 117046305 117046305 single base substitution G A intron_variant MELA-AU X 117046659 117046659 single base substitution G A intron_variant MELA-AU X 117046933 117046933 single base substitution T C intron_variant MELA-AU X 117046940 117046940 single base substitution C T intron_variant MELA-AU X 117047044 117047044 single base substitution A C intron_variant MELA-AU X 117047168 117047168 single base substitution G A intron_variant MELA-AU X 117047402 117047402 single base substitution C T intron_variant MELA-AU X 117047452 117047452 single base substitution G A intron_variant MELA-AU X 117047743 117047743 single base substitution T C intron_variant MELA-AU X 117048017 117048017 single base substitution A T intron_variant MELA-AU X 117048113 117048113 single base substitution C T intron_variant MELA-AU X 117048166 117048166 single base substitution C T intron_variant MELA-AU X 117048185 117048185 single base substitution G A intron_variant MELA-AU X 117048486 117048486 single base substitution A G intron_variant MELA-AU X 117048640 117048640 single base substitution C T intron_variant MELA-AU X 117048879 117048879 single base substitution G C intron_variant MELA-AU X 117048967 117048967 single base substitution G A intron_variant MELA-AU X 117049040 117049040 single base substitution G A intron_variant MELA-AU X 117049068 117049068 single base substitution T C intron_variant MELA-AU X 117049182 117049182 single base substitution G A intron_variant MELA-AU X 117049211 117049211 single base substitution G A intron_variant MELA-AU X 117049249 117049249 single base substitution G A intron_variant MELA-AU X 117050092 117050092 single base substitution G A downstream_gene_variant MELA-AU X 117050092 117050092 single base substitution G A intron_variant MELA-AU X 117050316 117050316 single base substitution C T downstream_gene_variant MELA-AU X 117050316 117050316 single base substitution C T intron_variant MELA-AU X 117050338 117050339 multiple base substitution (>=2bp and <=200bp) CC TT downstream_gene_variant MELA-AU X 117050338 117050339 multiple base substitution (>=2bp and <=200bp) CC TT intron_variant MELA-AU X 117050363 117050363 single base substitution C T downstream_gene_variant MELA-AU X 117050363 117050363 single base substitution C T intron_variant MELA-AU X 117050442 117050442 single base substitution G A downstream_gene_variant MELA-AU X 117050442 117050442 single base substitution G A intron_variant MELA-AU X 117050513 117050513 single base substitution C T downstream_gene_variant MELA-AU X 117050513 117050513 single base substitution C T intron_variant MELA-AU X 117050520 117050520 single base substitution C T downstream_gene_variant MELA-AU X 117050520 117050520 single base substitution C T intron_variant MELA-AU X 117050579 117050579 single base substitution A T downstream_gene_variant MELA-AU X 117050579 117050579 single base substitution A T intron_variant MELA-AU X 117050608 117050608 single base substitution C T downstream_gene_variant MELA-AU X 117050608 117050608 single base substitution C T intron_variant MELA-AU X 117050688 117050688 single base substitution G A downstream_gene_variant MELA-AU X 117050688 117050688 single base substitution G A intron_variant MELA-AU X 117050712 117050712 single base substitution G A downstream_gene_variant MELA-AU X 117050712 117050712 single base substitution G A intron_variant MELA-AU X 117050713 117050713 single base substitution G A downstream_gene_variant MELA-AU X 117050713 117050713 single base substitution G A intron_variant MELA-AU X 117050887 117050887 single base substitution G A downstream_gene_variant MELA-AU X 117050887 117050887 single base substitution G A intron_variant MELA-AU X 117050971 117050971 single base substitution A G downstream_gene_variant MELA-AU X 117050971 117050971 single base substitution A G intron_variant MELA-AU X 117050977 117050977 single base substitution C T downstream_gene_variant MELA-AU X 117050977 117050977 single base substitution C T intron_variant MELA-AU X 117050984 117050984 single base substitution C T downstream_gene_variant MELA-AU X 117050984 117050984 single base substitution C T intron_variant MELA-AU X 117051009 117051009 single base substitution G A downstream_gene_variant MELA-AU X 117051009 117051009 single base substitution G A intron_variant MELA-AU X 117051359 117051359 single base substitution G A downstream_gene_variant MELA-AU X 117051359 117051359 single base substitution G A intron_variant MELA-AU X 117051396 117051396 single base substitution G A downstream_gene_variant MELA-AU X 117051396 117051396 single base substitution G A intron_variant MELA-AU X 117051485 117051485 single base substitution G A downstream_gene_variant MELA-AU X 117051485 117051485 single base substitution G A intron_variant MELA-AU X 117051540 117051540 single base substitution T G downstream_gene_variant MELA-AU X 117051540 117051540 single base substitution T G intron_variant MELA-AU X 117051583 117051583 single base substitution C T downstream_gene_variant MELA-AU X 117051583 117051583 single base substitution C T intron_variant MELA-AU X 117051654 117051654 single base substitution C T downstream_gene_variant MELA-AU X 117051654 117051654 single base substitution C T intron_variant MELA-AU X 117051756 117051756 single base substitution C T downstream_gene_variant MELA-AU X 117051756 117051756 single base substitution C T intron_variant MELA-AU X 117051777 117051777 single base substitution C T downstream_gene_variant MELA-AU X 117051777 117051777 single base substitution C T intron_variant MELA-AU X 117051885 117051886 multiple base substitution (>=2bp and <=200bp) TG CC downstream_gene_variant MELA-AU X 117051885 117051886 multiple base substitution (>=2bp and <=200bp) TG CC intron_variant MELA-AU X 117052082 117052082 single base substitution C T downstream_gene_variant MELA-AU X 117052082 117052082 single base substitution C T intron_variant MELA-AU X 117052347 117052347 single base substitution G A downstream_gene_variant MELA-AU X 117052347 117052347 single base substitution G A intron_variant MELA-AU X 117052571 117052571 single base substitution C T downstream_gene_variant MELA-AU X 117052571 117052571 single base substitution C T intron_variant MELA-AU X 117052759 117052760 multiple base substitution (>=2bp and <=200bp) CC AT downstream_gene_variant MELA-AU X 117052759 117052760 multiple base substitution (>=2bp and <=200bp) CC AT intron_variant MELA-AU X 117053074 117053074 single base substitution C T downstream_gene_variant MELA-AU X 117053074 117053074 single base substitution C T intron_variant MELA-AU X 117053181 117053181 single base substitution T G downstream_gene_variant MELA-AU X 117053181 117053181 single base substitution T G intron_variant MELA-AU X 117053219 117053219 single base substitution T G downstream_gene_variant MELA-AU X 117053219 117053219 single base substitution T G intron_variant MELA-AU X 117053238 117053238 single base substitution C T downstream_gene_variant MELA-AU X 117053238 117053238 single base substitution C T intron_variant MELA-AU X 117053393 117053393 single base substitution G A downstream_gene_variant MELA-AU X 117053393 117053393 single base substitution G A intron_variant MELA-AU X 117053419 117053419 single base substitution C T downstream_gene_variant MELA-AU X 117053419 117053419 single base substitution C T intron_variant MELA-AU X 117053457 117053457 single base substitution G A downstream_gene_variant MELA-AU X 117053457 117053457 single base substitution G A intron_variant MELA-AU X 117053466 117053466 single base substitution G A downstream_gene_variant MELA-AU X 117053466 117053466 single base substitution G A intron_variant MELA-AU X 117053493 117053493 single base substitution G A downstream_gene_variant MELA-AU X 117053493 117053493 single base substitution G A synonymous_variant L136L 408C>T MELA-AU X 117053493 117053493 single base substitution G A synonymous_variant L145L 435C>T MELA-AU X 117053493 117053493 single base substitution G A synonymous_variant L171L 513C>T MELA-AU X 117053493 117053493 single base substitution G A synonymous_variant L187L 561C>T MELA-AU X 117053493 117053493 single base substitution G A synonymous_variant L190L 570C>T MELA-AU X 117053546 117053546 single base substitution C T downstream_gene_variant MELA-AU X 117053546 117053546 single base substitution C T missense_variant A119T 355G>A MELA-AU X 117053546 117053546 single base substitution C T missense_variant A128T 382G>A MELA-AU X 117053546 117053546 single base substitution C T missense_variant A154T 460G>A MELA-AU X 117053546 117053546 single base substitution C T missense_variant A170T 508G>A MELA-AU X 117053546 117053546 single base substitution C T missense_variant A173T 517G>A MELA-AU X 117053615 117053615 single base substitution T A downstream_gene_variant MELA-AU X 117053615 117053615 single base substitution T A stop_gained K105* 313A>T MELA-AU X 117053615 117053615 single base substitution T A stop_gained K131* 391A>T MELA-AU X 117053615 117053615 single base substitution T A stop_gained K147* 439A>T MELA-AU X 117053615 117053615 single base substitution T A stop_gained K150* 448A>T MELA-AU X 117053615 117053615 single base substitution T A stop_gained K96* 286A>T MELA-AU X 117053616 117053616 single base substitution C A downstream_gene_variant MELA-AU X 117053616 117053616 single base substitution C A missense_variant R104S 312G>T MELA-AU X 117053616 117053616 single base substitution C A missense_variant R130S 390G>T MELA-AU X 117053616 117053616 single base substitution C A missense_variant R146S 438G>T MELA-AU X 117053616 117053616 single base substitution C A missense_variant R149S 447G>T MELA-AU X 117053616 117053616 single base substitution C A missense_variant R95S 285G>T MELA-AU X 117053634 117053634 single base substitution C T downstream_gene_variant MELA-AU X 117053634 117053634 single base substitution C T synonymous_variant V124V 372G>A MELA-AU X 117053634 117053634 single base substitution C T synonymous_variant V140V 420G>A MELA-AU X 117053634 117053634 single base substitution C T synonymous_variant V143V 429G>A MELA-AU X 117053634 117053634 single base substitution C T synonymous_variant V89V 267G>A MELA-AU X 117053634 117053634 single base substitution C T synonymous_variant V98V 294G>A MELA-AU X 117053715 117053715 single base substitution G A downstream_gene_variant MELA-AU X 117053715 117053715 single base substitution G A intron_variant MELA-AU X 117053723 117053723 single base substitution T G downstream_gene_variant MELA-AU X 117053723 117053723 single base substitution T G intron_variant MELA-AU X 117054020 117054020 single base substitution G A downstream_gene_variant MELA-AU X 117054020 117054020 single base substitution G A intron_variant MELA-AU X 117054117 117054117 single base substitution T A downstream_gene_variant MELA-AU X 117054117 117054117 single base substitution T A intron_variant MELA-AU X 117054149 117054149 single base substitution G A downstream_gene_variant MELA-AU X 117054149 117054149 single base substitution G A intron_variant MELA-AU X 117054214 117054214 single base substitution C T downstream_gene_variant MELA-AU X 117054214 117054214 single base substitution C T synonymous_variant K104K 312G>A MELA-AU X 117054214 117054214 single base substitution C T synonymous_variant K120K 360G>A MELA-AU X 117054214 117054214 single base substitution C T synonymous_variant K123K 369G>A MELA-AU X 117054214 117054214 single base substitution C T synonymous_variant K69K 207G>A MELA-AU X 117054214 117054214 single base substitution C T synonymous_variant K78K 234G>A MELA-AU X 117054312 117054312 single base substitution C T missense_variant E37K 109G>A MELA-AU X 117054312 117054312 single base substitution C T missense_variant E46K 136G>A MELA-AU X 117054312 117054312 single base substitution C T missense_variant E72K 214G>A MELA-AU X 117054312 117054312 single base substitution C T missense_variant E88K 262G>A MELA-AU X 117054312 117054312 single base substitution C T missense_variant E91K 271G>A MELA-AU X 117054376 117054376 single base substitution G A intron_variant MELA-AU X 117054459 117054459 single base substitution C T intron_variant MELA-AU X 117054489 117054489 single base substitution C T intron_variant MELA-AU X 117054694 117054694 single base substitution C T intron_variant MELA-AU X 117054703 117054703 single base substitution G A intron_variant MELA-AU X 117054992 117054992 single base substitution A G intron_variant MELA-AU X 117055175 117055175 single base substitution G A intron_variant MELA-AU X 117055210 117055210 single base substitution C T intron_variant MELA-AU X 117055272 117055272 single base substitution G A intron_variant MELA-AU X 117055810 117055810 single base substitution C T intron_variant MELA-AU X 117055818 117055818 single base substitution G A intron_variant MELA-AU X 117055827 117055827 single base substitution G A intron_variant MELA-AU X 117056024 117056024 single base substitution C T intron_variant MELA-AU X 117056145 117056145 single base substitution C T intron_variant MELA-AU X 117056213 117056213 single base substitution G A intron_variant MELA-AU X 117056422 117056422 single base substitution G A intron_variant MELA-AU X 117056582 117056582 single base substitution C T intron_variant MELA-AU X 117056592 117056592 single base substitution C T intron_variant MELA-AU X 117056632 117056632 single base substitution G A intron_variant MELA-AU X 117056867 117056868 multiple base substitution (>=2bp and <=200bp) TC AT intron_variant MELA-AU X 117056868 117056868 single base substitution C T intron_variant MELA-AU X 117056996 117056996 single base substitution G A intron_variant MELA-AU X 117057040 117057040 single base substitution G A intron_variant MELA-AU X 117057135 117057135 single base substitution C T intron_variant MELA-AU X 117057228 117057228 single base substitution T A intron_variant MELA-AU X 117057269 117057269 single base substitution G A intron_variant MELA-AU X 117057376 117057376 single base substitution T A intron_variant MELA-AU X 117057625 117057625 single base substitution C T intron_variant MELA-AU X 117057832 117057832 single base substitution C T intron_variant MELA-AU X 117057855 117057855 single base substitution C T intron_variant MELA-AU X 117057874 117057874 single base substitution G A intron_variant MELA-AU X 117057986 117057986 single base substitution C T intron_variant MELA-AU X 117058190 117058190 single base substitution C T intron_variant MELA-AU X 117058199 117058199 single base substitution G A intron_variant MELA-AU X 117058451 117058451 single base substitution C T intron_variant MELA-AU X 117058486 117058486 single base substitution G A intron_variant MELA-AU X 117058773 117058773 single base substitution C T intron_variant MELA-AU X 117058833 117058833 single base substitution G A intron_variant MELA-AU X 117058980 117058980 single base substitution C T intron_variant MELA-AU X 117059091 117059091 single base substitution G A intron_variant MELA-AU X 117059210 117059210 single base substitution G A intron_variant MELA-AU X 117059324 117059324 single base substitution G A intron_variant MELA-AU X 117059337 117059337 single base substitution A G intron_variant MELA-AU X 117059502 117059502 single base substitution G A intron_variant MELA-AU X 117059667 117059667 single base substitution G A intron_variant MELA-AU X 117059740 117059740 single base substitution G A intron_variant MELA-AU X 117059784 117059784 single base substitution C T intron_variant MELA-AU X 117059876 117059876 single base substitution G A intron_variant MELA-AU X 117059883 117059883 single base substitution C T intron_variant MELA-AU X 117059920 117059920 single base substitution G A intron_variant MELA-AU X 117059955 117059955 single base substitution C T intron_variant MELA-AU X 117060020 117060020 single base substitution G A intron_variant MELA-AU X 117060027 117060027 single base substitution C T intron_variant MELA-AU X 117060048 117060048 single base substitution C T intron_variant MELA-AU X 117060081 117060081 single base substitution G A intron_variant MELA-AU X 117060207 117060207 single base substitution A G intron_variant MELA-AU X 117060228 117060228 single base substitution C T intron_variant MELA-AU X 117060348 117060348 single base substitution G A intron_variant MELA-AU X 117060461 117060461 single base substitution C T intron_variant MELA-AU X 117060478 117060478 single base substitution C T intron_variant MELA-AU X 117060488 117060488 single base substitution C T intron_variant MELA-AU X 117060500 117060500 single base substitution G A intron_variant MELA-AU X 117060705 117060705 single base substitution C T intron_variant MELA-AU X 117061189 117061189 single base substitution C T intron_variant MELA-AU X 117061295 117061295 single base substitution G A intron_variant MELA-AU X 117061472 117061472 single base substitution G A intron_variant MELA-AU X 117061483 117061483 single base substitution C T intron_variant MELA-AU X 117061731 117061731 single base substitution C T intron_variant MELA-AU X 117061787 117061787 single base substitution G A intron_variant MELA-AU X 117061808 117061808 single base substitution C T intron_variant MELA-AU X 117061877 117061877 single base substitution G A intron_variant MELA-AU X 117061889 117061889 single base substitution A G intron_variant MELA-AU X 117062150 117062150 single base substitution A G intron_variant MELA-AU X 117062183 117062183 single base substitution G A intron_variant MELA-AU X 117062210 117062210 single base substitution G A intron_variant MELA-AU X 117062573 117062573 single base substitution T A intron_variant MELA-AU X 117062587 117062587 single base substitution G A intron_variant MELA-AU X 117062596 117062596 single base substitution G A intron_variant MELA-AU X 117062728 117062728 single base substitution C T intron_variant MELA-AU X 117062872 117062872 single base substitution A T intron_variant MELA-AU X 117063006 117063006 single base substitution G A intron_variant MELA-AU X 117063063 117063063 single base substitution C T intron_variant MELA-AU X 117063139 117063139 single base substitution A T intron_variant MELA-AU X 117063197 117063197 single base substitution G A intron_variant MELA-AU X 117063218 117063218 single base substitution G A intron_variant MELA-AU X 117063341 117063341 single base substitution G A intron_variant MELA-AU X 117063820 117063820 single base substitution C G intron_variant MELA-AU X 117064047 117064047 single base substitution G A intron_variant MELA-AU X 117064130 117064130 single base substitution G A intron_variant MELA-AU X 117064228 117064228 single base substitution G A intron_variant MELA-AU X 117064683 117064683 single base substitution A G intron_variant MELA-AU X 117064776 117064776 single base substitution G A intron_variant MELA-AU X 117065121 117065121 single base substitution C T intron_variant MELA-AU X 117065158 117065158 single base substitution G A intron_variant MELA-AU X 117065238 117065238 single base substitution G A intron_variant MELA-AU X 117065409 117065409 single base substitution G A intron_variant MELA-AU X 117065446 117065446 single base substitution A T intron_variant MELA-AU X 117065549 117065549 single base substitution T C intron_variant MELA-AU X 117065556 117065556 single base substitution C T intron_variant MELA-AU X 117065560 117065560 single base substitution C T intron_variant MELA-AU X 117065985 117065985 single base substitution T C intron_variant MELA-AU X 117066128 117066128 single base substitution C T intron_variant MELA-AU X 117066288 117066288 single base substitution C T intron_variant MELA-AU X 117066454 117066454 single base substitution C T intron_variant MELA-AU X 117066493 117066493 single base substitution C T intron_variant MELA-AU X 117066549 117066549 single base substitution G A intron_variant MELA-AU X 117066676 117066676 single base substitution C T intron_variant MELA-AU X 117066787 117066787 single base substitution C T intron_variant MELA-AU X 117067056 117067056 single base substitution C T intron_variant MELA-AU X 117067134 117067134 single base substitution C T intron_variant MELA-AU X 117067274 117067274 single base substitution G A intron_variant MELA-AU X 117067406 117067406 single base substitution G A intron_variant MELA-AU X 117067414 117067414 single base substitution G A intron_variant MELA-AU X 117067531 117067531 single base substitution G A intron_variant MELA-AU X 117067639 117067639 single base substitution T A intron_variant MELA-AU X 117067889 117067889 single base substitution C T intron_variant MELA-AU X 117068100 117068100 single base substitution G A intron_variant MELA-AU X 117068270 117068270 single base substitution A T intron_variant MELA-AU X 117068339 117068339 single base substitution G A intron_variant MELA-AU X 117068365 117068365 single base substitution G A intron_variant MELA-AU X 117068429 117068429 single base substitution C T intron_variant MELA-AU X 117068539 117068539 single base substitution G A intron_variant MELA-AU X 117068564 117068564 single base substitution G A intron_variant MELA-AU X 117068652 117068652 single base substitution A G intron_variant MELA-AU X 117068713 117068713 single base substitution G A intron_variant MELA-AU X 117069115 117069115 single base substitution C T intron_variant MELA-AU X 117069120 117069120 single base substitution G A intron_variant MELA-AU X 117069447 117069447 single base substitution G A intron_variant MELA-AU X 117069470 117069470 single base substitution G A intron_variant MELA-AU X 117069676 117069676 single base substitution G A intron_variant MELA-AU X 117069718 117069718 single base substitution C T intron_variant MELA-AU X 117069801 117069801 single base substitution G A intron_variant MELA-AU X 117070006 117070006 single base substitution G A intron_variant MELA-AU X 117070109 117070109 single base substitution G A intron_variant MELA-AU X 117070116 117070116 single base substitution C T intron_variant MELA-AU X 117070354 117070354 single base substitution G A intron_variant MELA-AU X 117070485 117070485 single base substitution T G intron_variant MELA-AU X 117070580 117070580 single base substitution C T intron_variant MELA-AU X 117070604 117070604 single base substitution C T intron_variant MELA-AU X 117070629 117070629 single base substitution G A intron_variant MELA-AU X 117070732 117070732 single base substitution C T intron_variant MELA-AU X 117070777 117070777 single base substitution G A intron_variant MELA-AU X 117070841 117070841 single base substitution C G intron_variant MELA-AU X 117070895 117070895 single base substitution C T intron_variant MELA-AU X 117070907 117070907 single base substitution T A intron_variant MELA-AU X 117070991 117070991 single base substitution C T intron_variant MELA-AU X 117071038 117071038 single base substitution C T intron_variant MELA-AU X 117071096 117071096 single base substitution A G intron_variant MELA-AU X 117071104 117071104 single base substitution G A intron_variant MELA-AU X 117071129 117071129 single base substitution C T intron_variant MELA-AU X 117071181 117071181 single base substitution C T intron_variant MELA-AU X 117071230 117071230 single base substitution T G intron_variant MELA-AU X 117071288 117071288 single base substitution C T intron_variant MELA-AU X 117071302 117071302 single base substitution G A intron_variant MELA-AU X 117071327 117071327 single base substitution C T intron_variant MELA-AU X 117071365 117071365 single base substitution C T intron_variant MELA-AU X 117071826 117071826 single base substitution A T intron_variant MELA-AU X 117071872 117071872 single base substitution C T intron_variant MELA-AU X 117072036 117072036 single base substitution G A intron_variant MELA-AU X 117072100 117072100 single base substitution C T intron_variant MELA-AU X 117072352 117072352 single base substitution G C intron_variant MELA-AU X 117072434 117072434 single base substitution C T intron_variant MELA-AU X 117072607 117072607 single base substitution G A intron_variant MELA-AU X 117072744 117072744 single base substitution C T intron_variant MELA-AU X 117072774 117072774 single base substitution C T intron_variant MELA-AU X 117072841 117072841 single base substitution C T intron_variant MELA-AU X 117072877 117072877 single base substitution C T intron_variant MELA-AU X 117072883 117072883 single base substitution C T intron_variant MELA-AU X 117073049 117073049 single base substitution C T intron_variant MELA-AU X 117073062 117073062 single base substitution C T intron_variant MELA-AU X 117073065 117073065 single base substitution C T intron_variant MELA-AU X 117073223 117073223 single base substitution G A intron_variant MELA-AU X 117073229 117073229 single base substitution G A intron_variant MELA-AU X 117073300 117073300 single base substitution C T intron_variant MELA-AU X 117073806 117073806 single base substitution C T intron_variant MELA-AU X 117073818 117073818 single base substitution G A intron_variant MELA-AU X 117073819 117073819 single base substitution G A intron_variant MELA-AU X 117073834 117073834 single base substitution T G intron_variant MELA-AU X 117073846 117073846 single base substitution C T intron_variant MELA-AU X 117073852 117073852 single base substitution G A intron_variant MELA-AU X 117073856 117073856 single base substitution C T intron_variant MELA-AU X 117073877 117073877 single base substitution T A intron_variant MELA-AU X 117073879 117073879 single base substitution C T intron_variant MELA-AU X 117073916 117073916 single base substitution C T intron_variant MELA-AU X 117073917 117073917 single base substitution C T intron_variant MELA-AU X 117074060 117074060 single base substitution C T intron_variant MELA-AU X 117074190 117074190 single base substitution G A intron_variant MELA-AU X 117074268 117074268 single base substitution C T intron_variant MELA-AU X 117074347 117074347 single base substitution C T intron_variant MELA-AU X 117074408 117074408 single base substitution G A intron_variant MELA-AU X 117074439 117074439 single base substitution G A intron_variant MELA-AU X 117074511 117074511 single base substitution C T intron_variant MELA-AU X 117074514 117074514 single base substitution G A intron_variant MELA-AU X 117074603 117074603 single base substitution C T intron_variant MELA-AU X 117074727 117074727 single base substitution G A intron_variant MELA-AU X 117074737 117074737 single base substitution G A intron_variant MELA-AU X 117074875 117074875 single base substitution C T intron_variant MELA-AU X 117074878 117074878 single base substitution C T intron_variant MELA-AU X 117075110 117075110 single base substitution G A intron_variant MELA-AU X 117075187 117075187 single base substitution C T intron_variant MELA-AU X 117075495 117075495 single base substitution C T intron_variant MELA-AU X 117075612 117075612 single base substitution G T intron_variant MELA-AU X 117075675 117075675 single base substitution G A intron_variant MELA-AU X 117075844 117075844 single base substitution G A intron_variant MELA-AU X 117075925 117075925 single base substitution G A intron_variant MELA-AU X 117076044 117076044 single base substitution C T intron_variant MELA-AU X 117076085 117076085 single base substitution T C intron_variant MELA-AU X 117076123 117076123 single base substitution C T intron_variant MELA-AU X 117076145 117076145 single base substitution C T intron_variant MELA-AU X 117076335 117076335 single base substitution C T intron_variant MELA-AU X 117076813 117076813 single base substitution G A intron_variant MELA-AU X 117076955 117076955 single base substitution C T intron_variant MELA-AU X 117077022 117077022 single base substitution G A intron_variant MELA-AU X 117077068 117077068 single base substitution G A intron_variant MELA-AU X 117077156 117077156 single base substitution C T intron_variant MELA-AU X 117077191 117077191 single base substitution A G intron_variant MELA-AU X 117077228 117077228 single base substitution C T intron_variant MELA-AU X 117077237 117077237 single base substitution C T intron_variant MELA-AU X 117077272 117077272 single base substitution G A intron_variant MELA-AU X 117077315 117077315 single base substitution C T intron_variant MELA-AU X 117077560 117077560 single base substitution C T intron_variant MELA-AU X 117077753 117077753 single base substitution G A intron_variant MELA-AU X 117077862 117077862 single base substitution G A intron_variant MELA-AU X 117077912 117077912 single base substitution C T intron_variant MELA-AU X 117077972 117077972 single base substitution T A intron_variant MELA-AU X 117078046 117078046 single base substitution C T intron_variant MELA-AU X 117078235 117078235 single base substitution G A intron_variant MELA-AU X 117078242 117078242 single base substitution G A intron_variant MELA-AU X 117078328 117078328 single base substitution G A intron_variant MELA-AU X 117078338 117078338 single base substitution G A intron_variant MELA-AU X 117078368 117078368 single base substitution G A intron_variant MELA-AU X 117078379 117078379 single base substitution G A intron_variant MELA-AU X 117078488 117078488 single base substitution C T intron_variant MELA-AU X 117078603 117078603 single base substitution C T intron_variant MELA-AU X 117078626 117078626 single base substitution G A intron_variant MELA-AU X 117078758 117078758 single base substitution C T intron_variant MELA-AU X 117078977 117078977 single base substitution G A intron_variant MELA-AU X 117078987 117078987 single base substitution G A intron_variant MELA-AU X 117078997 117078997 single base substitution G A intron_variant MELA-AU X 117079220 117079220 single base substitution C T intron_variant MELA-AU X 117079305 117079305 single base substitution A C intron_variant MELA-AU X 117079508 117079508 single base substitution C T 5_prime_UTR_variant MELA-AU X 117079508 117079508 single base substitution C T missense_variant M27I 81G>A MELA-AU X 117079508 117079508 single base substitution C T missense_variant M43I 129G>A MELA-AU X 117079508 117079508 single base substitution C T missense_variant M46I 138G>A MELA-AU X 117079508 117079508 single base substitution C T start_lost M1I 3G>A MELA-AU X 117079525 117079525 single base substitution C T 5_prime_UTR_variant MELA-AU X 117079525 117079525 single base substitution C T missense_variant E22K 64G>A MELA-AU X 117079525 117079525 single base substitution C T missense_variant E38K 112G>A MELA-AU X 117079525 117079525 single base substitution C T missense_variant E41K 121G>A MELA-AU X 117079536 117079536 single base substitution G A 5_prime_UTR_variant MELA-AU X 117079536 117079536 single base substitution G A missense_variant S18F 53C>T MELA-AU X 117079536 117079536 single base substitution G A missense_variant S34F 101C>T MELA-AU X 117079536 117079536 single base substitution G A missense_variant S37F 110C>T MELA-AU X 117079536 117079536 single base substitution G A splice_region_variant MELA-AU X 117079749 117079749 single base substitution G A 5_prime_UTR_variant MELA-AU X 117079749 117079749 single base substitution G A intron_variant MELA-AU X 117079778 117079778 single base substitution T C 5_prime_UTR_variant MELA-AU X 117079778 117079778 single base substitution T C intron_variant MELA-AU X 117079852 117079852 single base substitution C T 5_prime_UTR_variant MELA-AU X 117079852 117079852 single base substitution C T intron_variant MELA-AU X 117080082 117080082 single base substitution G A 5_prime_UTR_variant MELA-AU X 117080082 117080082 single base substitution G A intron_variant MELA-AU X 117080186 117080186 single base substitution C T 5_prime_UTR_variant MELA-AU X 117080186 117080186 single base substitution C T intron_variant MELA-AU X 117080213 117080213 single base substitution G A 5_prime_UTR_variant MELA-AU X 117080213 117080213 single base substitution G A intron_variant MELA-AU X 117080284 117080284 single base substitution A G 5_prime_UTR_variant MELA-AU X 117080284 117080284 single base substitution A G intron_variant MELA-AU X 117080518 117080518 single base substitution G A 5_prime_UTR_variant MELA-AU X 117080518 117080518 single base substitution G A intron_variant MELA-AU X 117080572 117080572 single base substitution C T 5_prime_UTR_variant MELA-AU X 117080572 117080572 single base substitution C T intron_variant MELA-AU X 117080659 117080659 single base substitution T A 5_prime_UTR_variant MELA-AU X 117080659 117080659 single base substitution T A intron_variant MELA-AU X 117080731 117080731 single base substitution G A 5_prime_UTR_variant MELA-AU X 117080731 117080731 single base substitution G A intron_variant MELA-AU X 117081021 117081021 single base substitution G A 5_prime_UTR_variant MELA-AU X 117081021 117081021 single base substitution G A intron_variant MELA-AU X 117081289 117081289 single base substitution G A 5_prime_UTR_premature_start_codon_gain_variant MELA-AU X 117081289 117081289 single base substitution G A intron_variant MELA-AU X 117081422 117081422 single base substitution G A 5_prime_UTR_variant MELA-AU X 117081422 117081422 single base substitution G A intron_variant MELA-AU X 117081569 117081569 single base substitution C T 5_prime_UTR_variant MELA-AU X 117081569 117081569 single base substitution C T intron_variant MELA-AU X 117081824 117081824 single base substitution G A 5_prime_UTR_variant MELA-AU X 117081824 117081824 single base substitution G A intron_variant MELA-AU X 117081881 117081881 single base substitution G A 5_prime_UTR_variant MELA-AU X 117081881 117081881 single base substitution G A intron_variant MELA-AU X 117081905 117081905 single base substitution G A 5_prime_UTR_variant MELA-AU X 117081905 117081905 single base substitution G A intron_variant MELA-AU X 117081920 117081920 single base substitution T A intron_variant MELA-AU X 117081920 117081920 single base substitution T A upstream_gene_variant MELA-AU X 117082022 117082022 single base substitution C T intron_variant MELA-AU X 117082022 117082022 single base substitution C T upstream_gene_variant MELA-AU X 117082032 117082032 single base substitution G A intron_variant MELA-AU X 117082032 117082032 single base substitution G A upstream_gene_variant MELA-AU X 117082040 117082040 single base substitution A T intron_variant MELA-AU X 117082040 117082040 single base substitution A T upstream_gene_variant MELA-AU X 117082200 117082200 single base substitution C T intron_variant MELA-AU X 117082200 117082200 single base substitution C T upstream_gene_variant MELA-AU X 117082304 117082304 single base substitution C T intron_variant MELA-AU X 117082304 117082304 single base substitution C T upstream_gene_variant MELA-AU X 117082354 117082354 single base substitution T C intron_variant MELA-AU X 117082354 117082354 single base substitution T C upstream_gene_variant MELA-AU X 117082497 117082497 single base substitution C T intron_variant MELA-AU X 117082497 117082497 single base substitution C T upstream_gene_variant MELA-AU X 117082557 117082557 single base substitution G A intron_variant MELA-AU X 117082557 117082557 single base substitution G A upstream_gene_variant MELA-AU X 117082593 117082593 single base substitution C T intron_variant MELA-AU X 117082593 117082593 single base substitution C T upstream_gene_variant MELA-AU X 117082594 117082594 single base substitution G A intron_variant MELA-AU X 117082594 117082594 single base substitution G A upstream_gene_variant MELA-AU X 117082703 117082703 single base substitution C T intron_variant MELA-AU X 117082703 117082703 single base substitution C T upstream_gene_variant MELA-AU X 117082733 117082733 single base substitution G A intron_variant MELA-AU X 117082733 117082733 single base substitution G A upstream_gene_variant MELA-AU X 117082830 117082830 single base substitution C T intron_variant MELA-AU X 117082830 117082830 single base substitution C T upstream_gene_variant MELA-AU X 117082924 117082924 single base substitution G A intron_variant MELA-AU X 117082924 117082924 single base substitution G A upstream_gene_variant MELA-AU X 117083152 117083152 single base substitution C T intron_variant MELA-AU X 117083152 117083152 single base substitution C T upstream_gene_variant MELA-AU X 117083239 117083239 single base substitution G A intron_variant MELA-AU X 117083239 117083239 single base substitution G A upstream_gene_variant MELA-AU X 117083252 117083252 single base substitution G A intron_variant MELA-AU X 117083252 117083252 single base substitution G A upstream_gene_variant MELA-AU X 117083274 117083274 single base substitution G A intron_variant MELA-AU X 117083274 117083274 single base substitution G A upstream_gene_variant MELA-AU X 117083507 117083507 single base substitution G A intron_variant MELA-AU X 117083507 117083507 single base substitution G A upstream_gene_variant MELA-AU X 117083603 117083603 single base substitution C T intron_variant MELA-AU X 117083603 117083603 single base substitution C T upstream_gene_variant MELA-AU X 117083643 117083643 single base substitution C T intron_variant MELA-AU X 117083643 117083643 single base substitution C T upstream_gene_variant MELA-AU X 117083690 117083690 single base substitution C T intron_variant MELA-AU X 117083690 117083690 single base substitution C T upstream_gene_variant MELA-AU X 117083741 117083741 single base substitution C T intron_variant MELA-AU X 117083741 117083741 single base substitution C T upstream_gene_variant MELA-AU X 117083756 117083756 single base substitution G A intron_variant MELA-AU X 117083756 117083756 single base substitution G A upstream_gene_variant MELA-AU X 117083815 117083815 single base substitution T G intron_variant MELA-AU X 117083815 117083815 single base substitution T G upstream_gene_variant MELA-AU X 117083822 117083822 single base substitution G C intron_variant MELA-AU X 117083822 117083822 single base substitution G C upstream_gene_variant MELA-AU X 117083879 117083879 single base substitution C T intron_variant MELA-AU X 117083879 117083879 single base substitution C T upstream_gene_variant MELA-AU X 117083969 117083969 single base substitution G A intron_variant MELA-AU X 117083969 117083969 single base substitution G A upstream_gene_variant MELA-AU X 117084205 117084205 single base substitution G A intron_variant MELA-AU X 117084205 117084205 single base substitution G A upstream_gene_variant MELA-AU X 117084227 117084227 single base substitution C T intron_variant MELA-AU X 117084227 117084227 single base substitution C T upstream_gene_variant MELA-AU X 117084406 117084406 single base substitution G A intron_variant MELA-AU X 117084406 117084406 single base substitution G A upstream_gene_variant MELA-AU X 117084417 117084417 single base substitution G A intron_variant MELA-AU X 117084417 117084417 single base substitution G A upstream_gene_variant MELA-AU X 117084435 117084435 single base substitution A G intron_variant MELA-AU X 117084435 117084435 single base substitution A G upstream_gene_variant MELA-AU X 117084643 117084643 single base substitution C T intron_variant MELA-AU X 117084643 117084643 single base substitution C T upstream_gene_variant MELA-AU X 117084676 117084676 single base substitution G A intron_variant MELA-AU X 117084676 117084676 single base substitution G A upstream_gene_variant MELA-AU X 117084828 117084828 single base substitution G A intron_variant MELA-AU X 117084828 117084828 single base substitution G A upstream_gene_variant MELA-AU X 117084910 117084910 single base substitution G A intron_variant MELA-AU X 117084910 117084910 single base substitution G A upstream_gene_variant MELA-AU X 117084968 117084968 single base substitution C T intron_variant MELA-AU X 117084968 117084968 single base substitution C T upstream_gene_variant MELA-AU X 117085016 117085016 single base substitution C T intron_variant MELA-AU X 117085016 117085016 single base substitution C T upstream_gene_variant MELA-AU X 117085132 117085132 single base substitution G A intron_variant MELA-AU X 117085132 117085132 single base substitution G A upstream_gene_variant MELA-AU X 117085151 117085151 single base substitution C T intron_variant MELA-AU X 117085151 117085151 single base substitution C T upstream_gene_variant MELA-AU X 117085232 117085232 single base substitution T C intron_variant MELA-AU X 117085232 117085232 single base substitution T C upstream_gene_variant MELA-AU X 117085446 117085446 single base substitution G A intron_variant MELA-AU X 117085446 117085446 single base substitution G A upstream_gene_variant MELA-AU X 117085519 117085519 single base substitution G A intron_variant MELA-AU X 117085519 117085519 single base substitution G A upstream_gene_variant MELA-AU X 117085718 117085718 single base substitution C T intron_variant MELA-AU X 117085718 117085718 single base substitution C T upstream_gene_variant MELA-AU X 117085884 117085884 single base substitution A G intron_variant MELA-AU X 117085884 117085884 single base substitution A G upstream_gene_variant MELA-AU X 117085914 117085914 single base substitution A T intron_variant MELA-AU X 117085914 117085914 single base substitution A T upstream_gene_variant MELA-AU X 117085924 117085924 single base substitution G A intron_variant MELA-AU X 117085924 117085924 single base substitution G A upstream_gene_variant MELA-AU X 117085969 117085969 single base substitution C T intron_variant MELA-AU X 117085969 117085969 single base substitution C T upstream_gene_variant MELA-AU X 117086105 117086105 single base substitution G A intron_variant MELA-AU X 117086105 117086105 single base substitution G A upstream_gene_variant MELA-AU X 117086201 117086201 single base substitution G A intron_variant MELA-AU X 117086201 117086201 single base substitution G A upstream_gene_variant MELA-AU X 117086270 117086270 single base substitution G A intron_variant MELA-AU X 117086270 117086270 single base substitution G A upstream_gene_variant MELA-AU X 117086972 117086972 single base substitution G A intron_variant MELA-AU X 117087026 117087026 single base substitution C A intron_variant MELA-AU X 117087210 117087210 single base substitution C T intron_variant MELA-AU X 117087370 117087370 single base substitution G A intron_variant MELA-AU X 117087423 117087423 single base substitution G A intron_variant MELA-AU X 117087603 117087603 single base substitution A T intron_variant MELA-AU X 117087630 117087630 single base substitution C T intron_variant MELA-AU X 117087748 117087748 single base substitution G A intron_variant MELA-AU X 117087925 117087925 single base substitution G A intron_variant MELA-AU X 117087968 117087968 single base substitution G A intron_variant MELA-AU X 117087979 117087979 single base substitution G A intron_variant MELA-AU X 117088196 117088196 single base substitution C T intron_variant MELA-AU X 117088371 117088371 single base substitution G A intron_variant MELA-AU X 117088384 117088384 single base substitution G A intron_variant MELA-AU X 117088748 117088748 single base substitution C T intron_variant MELA-AU X 117088903 117088903 single base substitution G A intron_variant MELA-AU X 117088982 117088982 single base substitution G A intron_variant MELA-AU X 117089045 117089045 single base substitution C T intron_variant MELA-AU X 117089161 117089161 single base substitution G A intron_variant MELA-AU X 117089175 117089175 single base substitution T A intron_variant MELA-AU X 117089460 117089460 single base substitution G A intron_variant MELA-AU X 117089491 117089491 single base substitution G A intron_variant MELA-AU X 117089917 117089917 single base substitution A C intron_variant MELA-AU X 117089959 117089959 single base substitution A G intron_variant MELA-AU X 117089996 117089996 single base substitution C T intron_variant MELA-AU X 117090017 117090017 single base substitution A G intron_variant MELA-AU X 117090245 117090245 single base substitution C T intron_variant MELA-AU X 117090251 117090251 single base substitution G A intron_variant MELA-AU X 117090311 117090311 single base substitution C T intron_variant MELA-AU X 117090416 117090417 multiple base substitution (>=2bp and <=200bp) GG AA intron_variant MELA-AU X 117090453 117090453 single base substitution G A intron_variant MELA-AU X 117090702 117090703 multiple base substitution (>=2bp and <=200bp) AG GA intron_variant MELA-AU X 117090751 117090752 multiple base substitution (>=2bp and <=200bp) GG AA intron_variant MELA-AU X 117090777 117090778 multiple base substitution (>=2bp and <=200bp) CC TT intron_variant MELA-AU X 117090840 117090840 single base substitution C T intron_variant MELA-AU X 117090851 117090851 single base substitution G A intron_variant MELA-AU X 117090922 117090922 single base substitution C T intron_variant MELA-AU X 117090934 117090934 single base substitution C T intron_variant MELA-AU X 117091347 117091347 single base substitution C T intron_variant MELA-AU X 117091722 117091722 single base substitution G A intron_variant MELA-AU X 117091887 117091887 single base substitution G A intron_variant MELA-AU X 117091910 117091910 single base substitution C T intron_variant MELA-AU X 117092025 117092025 single base substitution G A intron_variant MELA-AU X 117092082 117092082 single base substitution T C intron_variant MELA-AU X 117092111 117092112 multiple base substitution (>=2bp and <=200bp) CC TT intron_variant MELA-AU X 117092165 117092165 single base substitution G A intron_variant MELA-AU X 117092411 117092411 single base substitution G A intron_variant MELA-AU X 117092533 117092533 single base substitution C T intron_variant MELA-AU X 117092548 117092548 single base substitution C T intron_variant MELA-AU X 117092784 117092784 single base substitution C T intron_variant MELA-AU X 117092839 117092839 single base substitution C T intron_variant MELA-AU X 117093132 117093132 single base substitution T G intron_variant MELA-AU X 117093167 117093167 single base substitution G A intron_variant MELA-AU X 117093239 117093239 single base substitution G A intron_variant MELA-AU X 117093243 117093243 single base substitution G A intron_variant MELA-AU X 117093293 117093293 single base substitution G A intron_variant MELA-AU X 117093446 117093446 single base substitution G A intron_variant MELA-AU X 117093573 117093573 single base substitution G A intron_variant MELA-AU X 117093655 117093655 single base substitution C T intron_variant MELA-AU X 117093822 117093822 single base substitution C T intron_variant MELA-AU X 117093823 117093823 single base substitution A T intron_variant MELA-AU X 117093901 117093901 single base substitution G A intron_variant MELA-AU X 117093904 117093904 single base substitution C T intron_variant MELA-AU X 117093985 117093985 single base substitution G A intron_variant MELA-AU X 117094121 117094121 single base substitution G A intron_variant MELA-AU X 117094124 117094124 single base substitution G A intron_variant MELA-AU X 117094145 117094145 single base substitution C T intron_variant MELA-AU X 117094190 117094190 single base substitution A C intron_variant MELA-AU X 117094297 117094297 single base substitution C T intron_variant MELA-AU X 117094572 117094572 single base substitution C T intron_variant MELA-AU X 117094592 117094592 single base substitution G A intron_variant MELA-AU X 117094703 117094703 single base substitution G A intron_variant MELA-AU X 117094877 117094877 single base substitution C T intron_variant MELA-AU X 117094880 117094880 single base substitution G A intron_variant MELA-AU X 117095049 117095049 single base substitution C T intron_variant MELA-AU X 117095112 117095112 single base substitution G A intron_variant MELA-AU X 117095274 117095274 single base substitution G A intron_variant MELA-AU X 117095447 117095447 single base substitution G A intron_variant MELA-AU X 117095507 117095507 single base substitution G A intron_variant MELA-AU X 117095649 117095649 single base substitution G A intron_variant MELA-AU X 117095656 117095656 single base substitution G A intron_variant MELA-AU X 117095723 117095723 single base substitution G T intron_variant MELA-AU X 117095824 117095824 single base substitution T A intron_variant MELA-AU X 117096085 117096085 single base substitution G A intron_variant MELA-AU X 117096358 117096358 single base substitution G A intron_variant MELA-AU X 117096387 117096387 single base substitution G A intron_variant MELA-AU X 117096436 117096436 single base substitution G A intron_variant MELA-AU X 117096460 117096460 single base substitution G A intron_variant MELA-AU X 117096555 117096555 single base substitution C T intron_variant MELA-AU X 117096636 117096636 single base substitution C T intron_variant MELA-AU X 117096637 117096637 single base substitution C T intron_variant MELA-AU X 117096652 117096652 single base substitution C T intron_variant MELA-AU X 117096755 117096755 single base substitution G A intron_variant MELA-AU X 117096983 117096983 single base substitution G A intron_variant MELA-AU X 117097067 117097067 single base substitution T G intron_variant MELA-AU X 117097122 117097122 single base substitution C T intron_variant MELA-AU X 117097176 117097176 single base substitution G A intron_variant MELA-AU X 117097192 117097192 single base substitution A G intron_variant MELA-AU X 117097424 117097424 single base substitution G A intron_variant MELA-AU X 117097430 117097430 single base substitution T C intron_variant MELA-AU X 117097529 117097529 single base substitution C T intron_variant MELA-AU X 117097614 117097614 single base substitution C T intron_variant MELA-AU X 117097746 117097746 single base substitution C T intron_variant MELA-AU X 117098181 117098181 single base substitution C T intron_variant MELA-AU X 117098411 117098411 single base substitution G A intron_variant MELA-AU X 117098454 117098454 single base substitution C T intron_variant MELA-AU X 117098583 117098583 single base substitution G A intron_variant MELA-AU X 117098664 117098664 deletion of <=200bp A - intron_variant MELA-AU X 117098691 117098691 single base substitution C T intron_variant MELA-AU X 117098740 117098740 single base substitution C T intron_variant MELA-AU X 117099041 117099041 single base substitution A T intron_variant MELA-AU X 117099069 117099069 single base substitution A T intron_variant MELA-AU X 117099430 117099430 single base substitution C T intron_variant MELA-AU X 117099464 117099464 single base substitution C T intron_variant MELA-AU X 117099539 117099539 single base substitution C T intron_variant MELA-AU X 117099588 117099588 single base substitution C T intron_variant MELA-AU X 117099613 117099613 single base substitution C T intron_variant MELA-AU X 117100059 117100059 single base substitution G A intron_variant MELA-AU X 117100205 117100205 single base substitution C T intron_variant MELA-AU X 117100239 117100239 single base substitution G A intron_variant MELA-AU X 117100257 117100257 single base substitution G A intron_variant MELA-AU X 117100408 117100408 single base substitution G A intron_variant MELA-AU X 117100448 117100448 single base substitution C T intron_variant MELA-AU X 117100475 117100475 single base substitution C T intron_variant MELA-AU X 117100512 117100512 single base substitution G A intron_variant MELA-AU X 117100532 117100532 single base substitution C T intron_variant MELA-AU X 117100548 117100548 single base substitution G A intron_variant MELA-AU X 117100549 117100549 single base substitution G A intron_variant MELA-AU X 117100690 117100690 single base substitution A T intron_variant MELA-AU X 117100775 117100776 multiple base substitution (>=2bp and <=200bp) GG AA intron_variant MELA-AU X 117100776 117100776 single base substitution G A intron_variant MELA-AU X 117100918 117100918 single base substitution C T intron_variant MELA-AU X 117101061 117101061 single base substitution G A intron_variant MELA-AU X 117101442 117101442 single base substitution G A intron_variant MELA-AU X 117101444 117101444 single base substitution A T intron_variant MELA-AU X 117101504 117101504 single base substitution C T intron_variant MELA-AU X 117101854 117101854 single base substitution G A intron_variant MELA-AU X 117101895 117101895 single base substitution C T intron_variant MELA-AU X 117101921 117101921 single base substitution C T intron_variant MELA-AU X 117101959 117101959 single base substitution G A intron_variant MELA-AU X 117101991 117101991 single base substitution G A intron_variant MELA-AU X 117102039 117102039 single base substitution A T intron_variant MELA-AU X 117102281 117102281 single base substitution A G intron_variant MELA-AU X 117102318 117102318 single base substitution G A intron_variant MELA-AU X 117102386 117102386 single base substitution G A intron_variant MELA-AU X 117102415 117102415 single base substitution C T intron_variant MELA-AU X 117102416 117102416 single base substitution C T intron_variant MELA-AU X 117102757 117102757 single base substitution G A intron_variant MELA-AU X 117103000 117103000 single base substitution G A intron_variant MELA-AU X 117103024 117103024 single base substitution G A intron_variant MELA-AU X 117103142 117103142 single base substitution C T intron_variant MELA-AU X 117103225 117103225 single base substitution G A intron_variant MELA-AU X 117103286 117103286 single base substitution C T intron_variant MELA-AU X 117103476 117103476 single base substitution C T intron_variant MELA-AU X 117103703 117103703 single base substitution C T intron_variant MELA-AU X 117103818 117103818 single base substitution C T intron_variant MELA-AU X 117103937 117103937 single base substitution G A intron_variant MELA-AU X 117104081 117104081 single base substitution C T intron_variant MELA-AU X 117104224 117104224 single base substitution A G intron_variant MELA-AU X 117104280 117104280 single base substitution C T intron_variant MELA-AU X 117104348 117104348 single base substitution C T intron_variant MELA-AU X 117104360 117104360 single base substitution G A intron_variant MELA-AU X 117104371 117104371 single base substitution G A intron_variant MELA-AU X 117104792 117104792 single base substitution A C intron_variant MELA-AU X 117105021 117105021 single base substitution G A intron_variant MELA-AU X 117105119 117105119 single base substitution A C intron_variant MELA-AU X 117105123 117105123 single base substitution T A intron_variant MELA-AU X 117105156 117105156 single base substitution G C intron_variant MELA-AU X 117105442 117105442 single base substitution T A intron_variant MELA-AU X 117105529 117105529 single base substitution G A intron_variant MELA-AU X 117105564 117105564 single base substitution G A intron_variant MELA-AU X 117105741 117105741 single base substitution C T intron_variant MELA-AU X 117105794 117105794 single base substitution C T intron_variant MELA-AU X 117105857 117105857 single base substitution C T intron_variant MELA-AU X 117106117 117106117 single base substitution G A intron_variant MELA-AU X 117106128 117106128 single base substitution T C intron_variant MELA-AU X 117106138 117106138 single base substitution C T intron_variant MELA-AU X 117106151 117106151 single base substitution C T intron_variant MELA-AU X 117106440 117106440 single base substitution C T intron_variant MELA-AU X 117106512 117106512 single base substitution T A intron_variant MELA-AU X 117106568 117106568 single base substitution A G intron_variant MELA-AU X 117106576 117106576 single base substitution G A intron_variant MELA-AU X 117106585 117106585 single base substitution C T intron_variant MELA-AU X 117106619 117106619 single base substitution C T intron_variant MELA-AU X 117106646 117106646 single base substitution G A intron_variant MELA-AU X 117106657 117106657 single base substitution G A intron_variant MELA-AU X 117106674 117106674 single base substitution T G intron_variant MELA-AU X 117106746 117106746 single base substitution G A 5_prime_UTR_variant MELA-AU X 117106746 117106746 single base substitution G A intron_variant MELA-AU X 117106746 117106746 single base substitution G A missense_variant P16S 46C>T MELA-AU X 117106747 117106747 single base substitution G A 5_prime_UTR_variant MELA-AU X 117106747 117106747 single base substitution G A intron_variant MELA-AU X 117106747 117106747 single base substitution G A synonymous_variant F15F 45C>T MELA-AU X 117106771 117106771 single base substitution C T 5_prime_UTR_variant MELA-AU X 117106771 117106771 single base substitution C T intron_variant MELA-AU X 117106771 117106771 single base substitution C T synonymous_variant T7T 21G>A MELA-AU X 117106862 117106862 single base substitution C T 5_prime_UTR_variant MELA-AU X 117106862 117106862 single base substitution C T intron_variant MELA-AU X 117107022 117107022 single base substitution C T 5_prime_UTR_variant MELA-AU X 117107022 117107022 single base substitution C T intron_variant MELA-AU X 117107203 117107203 single base substitution C T 5_prime_UTR_variant MELA-AU X 117107203 117107203 single base substitution C T intron_variant MELA-AU X 117107205 117107205 single base substitution G A 5_prime_UTR_variant MELA-AU X 117107205 117107205 single base substitution G A intron_variant MELA-AU X 117107247 117107247 single base substitution C T 5_prime_UTR_variant MELA-AU X 117107247 117107247 single base substitution C T intron_variant MELA-AU X 117107263 117107263 deletion of <=200bp A - 5_prime_UTR_variant MELA-AU X 117107263 117107263 deletion of <=200bp A - intron_variant MELA-AU X 117107298 117107298 single base substitution C T 5_prime_UTR_variant MELA-AU X 117107298 117107298 single base substitution C T intron_variant MELA-AU X 117107452 117107452 single base substitution G A 5_prime_UTR_variant MELA-AU X 117107452 117107452 single base substitution G A intron_variant MELA-AU X 117107574 117107574 single base substitution C T 5_prime_UTR_variant MELA-AU X 117107574 117107574 single base substitution C T intron_variant MELA-AU X 117107574 117107574 single base substitution C T upstream_gene_variant MELA-AU X 117107804 117107804 single base substitution C T intron_variant MELA-AU X 117107804 117107804 single base substitution C T upstream_gene_variant MELA-AU X 117107917 117107917 single base substitution G A intron_variant MELA-AU X 117107917 117107917 single base substitution G A upstream_gene_variant MELA-AU X 117108179 117108179 single base substitution G A intron_variant MELA-AU X 117108179 117108179 single base substitution G A upstream_gene_variant MELA-AU X 117108363 117108363 single base substitution T A intron_variant MELA-AU X 117108363 117108363 single base substitution T A upstream_gene_variant MELA-AU X 117108386 117108386 single base substitution C T intron_variant MELA-AU X 117108386 117108386 single base substitution C T upstream_gene_variant MELA-AU X 117108456 117108456 single base substitution C T intron_variant MELA-AU X 117108456 117108456 single base substitution C T upstream_gene_variant MELA-AU X 117108713 117108713 single base substitution A T intron_variant MELA-AU X 117108713 117108713 single base substitution A T upstream_gene_variant MELA-AU X 117108945 117108945 single base substitution G A intron_variant MELA-AU X 117108945 117108945 single base substitution G A upstream_gene_variant MELA-AU X 117108955 117108955 single base substitution C T intron_variant MELA-AU X 117108955 117108955 single base substitution C T upstream_gene_variant MELA-AU X 117109083 117109083 single base substitution G A intron_variant MELA-AU X 117109083 117109083 single base substitution G A upstream_gene_variant MELA-AU X 117109242 117109242 single base substitution G A intron_variant MELA-AU X 117109242 117109242 single base substitution G A upstream_gene_variant MELA-AU X 117109255 117109255 single base substitution A G intron_variant MELA-AU X 117109255 117109255 single base substitution A G upstream_gene_variant MELA-AU X 117109327 117109327 single base substitution C T intron_variant MELA-AU X 117109327 117109327 single base substitution C T upstream_gene_variant MELA-AU X 117109338 117109338 single base substitution C T intron_variant MELA-AU X 117109338 117109338 single base substitution C T upstream_gene_variant MELA-AU X 117109377 117109377 single base substitution G A intron_variant MELA-AU X 117109377 117109377 single base substitution G A upstream_gene_variant MELA-AU X 117109461 117109461 single base substitution C T intron_variant MELA-AU X 117109461 117109461 single base substitution C T upstream_gene_variant MELA-AU X 117109601 117109601 single base substitution G A intron_variant MELA-AU X 117109601 117109601 single base substitution G A upstream_gene_variant MELA-AU X 117109740 117109740 single base substitution G A intron_variant MELA-AU X 117109740 117109740 single base substitution G A upstream_gene_variant MELA-AU X 117109832 117109832 single base substitution C T intron_variant MELA-AU X 117109832 117109832 single base substitution C T upstream_gene_variant MELA-AU X 117109871 117109871 single base substitution C T intron_variant MELA-AU X 117109871 117109871 single base substitution C T upstream_gene_variant MELA-AU X 117109943 117109943 single base substitution C T intron_variant MELA-AU X 117109943 117109943 single base substitution C T upstream_gene_variant MELA-AU X 117110007 117110007 single base substitution C T intron_variant MELA-AU X 117110007 117110007 single base substitution C T upstream_gene_variant MELA-AU X 117110267 117110267 single base substitution C T intron_variant MELA-AU X 117110267 117110267 single base substitution C T upstream_gene_variant MELA-AU X 117110268 117110268 single base substitution C T intron_variant MELA-AU X 117110268 117110268 single base substitution C T upstream_gene_variant MELA-AU X 117110377 117110377 single base substitution C T intron_variant MELA-AU X 117110377 117110377 single base substitution C T upstream_gene_variant MELA-AU X 117110614 117110614 single base substitution C T intron_variant MELA-AU X 117110614 117110614 single base substitution C T upstream_gene_variant MELA-AU X 117110679 117110679 single base substitution G A intron_variant MELA-AU X 117110679 117110679 single base substitution G A upstream_gene_variant MELA-AU X 117110744 117110744 single base substitution A T intron_variant MELA-AU X 117110744 117110744 single base substitution A T upstream_gene_variant MELA-AU X 117110864 117110864 single base substitution T C intron_variant MELA-AU X 117110864 117110864 single base substitution T C upstream_gene_variant MELA-AU X 117110887 117110887 single base substitution C T intron_variant MELA-AU X 117110887 117110887 single base substitution C T upstream_gene_variant MELA-AU X 117110929 117110929 single base substitution G A intron_variant MELA-AU X 117110929 117110929 single base substitution G A upstream_gene_variant MELA-AU X 117111201 117111201 single base substitution G A intron_variant MELA-AU X 117111201 117111201 single base substitution G A upstream_gene_variant MELA-AU X 117111221 117111221 single base substitution T A intron_variant MELA-AU X 117111221 117111221 single base substitution T A upstream_gene_variant MELA-AU X 117111236 117111236 single base substitution C T intron_variant MELA-AU X 117111236 117111236 single base substitution C T upstream_gene_variant MELA-AU X 117111237 117111237 single base substitution C T intron_variant MELA-AU X 117111237 117111237 single base substitution C T upstream_gene_variant MELA-AU X 117111310 117111310 single base substitution A T intron_variant MELA-AU X 117111310 117111310 single base substitution A T upstream_gene_variant MELA-AU X 117111424 117111424 single base substitution G A intron_variant MELA-AU X 117111424 117111424 single base substitution G A upstream_gene_variant MELA-AU X 117111466 117111466 single base substitution C T intron_variant MELA-AU X 117111466 117111466 single base substitution C T upstream_gene_variant MELA-AU X 117111498 117111498 single base substitution C T intron_variant MELA-AU X 117111498 117111498 single base substitution C T upstream_gene_variant MELA-AU X 117111763 117111763 single base substitution C T intron_variant MELA-AU X 117111763 117111763 single base substitution C T upstream_gene_variant MELA-AU X 117111801 117111801 single base substitution C T intron_variant MELA-AU X 117111801 117111801 single base substitution C T upstream_gene_variant MELA-AU X 117112106 117112106 single base substitution G A intron_variant MELA-AU X 117112106 117112106 single base substitution G A upstream_gene_variant MELA-AU X 117112485 117112485 single base substitution G A intron_variant MELA-AU X 117112485 117112485 single base substitution G A upstream_gene_variant MELA-AU X 117112523 117112523 single base substitution G A intron_variant MELA-AU X 117112523 117112523 single base substitution G A upstream_gene_variant MELA-AU X 117112567 117112567 single base substitution A T intron_variant MELA-AU X 117112567 117112567 single base substitution A T upstream_gene_variant MELA-AU X 117113384 117113384 single base substitution C T intron_variant MELA-AU X 117113409 117113409 single base substitution C T intron_variant MELA-AU X 117113429 117113429 single base substitution G A intron_variant MELA-AU X 117113534 117113534 single base substitution G A intron_variant MELA-AU X 117113547 117113547 single base substitution C T intron_variant MELA-AU X 117113687 117113687 single base substitution G A intron_variant MELA-AU X 117113748 117113748 single base substitution C T intron_variant MELA-AU X 117113915 117113915 single base substitution G A intron_variant MELA-AU X 117114683 117114683 single base substitution C T intron_variant MELA-AU X 117114694 117114694 single base substitution C T intron_variant MELA-AU X 117114843 117114843 single base substitution G A intron_variant MELA-AU X 117114877 117114877 single base substitution G A intron_variant MELA-AU X 117114954 117114954 single base substitution C T intron_variant MELA-AU X 117115271 117115271 single base substitution G A intron_variant MELA-AU X 117115295 117115295 single base substitution C T intron_variant MELA-AU X 117115365 117115365 single base substitution G A intron_variant MELA-AU X 117115406 117115406 single base substitution C T intron_variant MELA-AU X 117115411 117115411 single base substitution C T intron_variant MELA-AU X 117115553 117115553 single base substitution C T intron_variant MELA-AU X 117115561 117115561 single base substitution C T intron_variant MELA-AU X 117115805 117115805 single base substitution G A intron_variant MELA-AU X 117115830 117115830 single base substitution C T intron_variant MELA-AU X 117115981 117115981 single base substitution G A intron_variant MELA-AU X 117116064 117116064 single base substitution G A intron_variant MELA-AU X 117116277 117116277 single base substitution C T intron_variant MELA-AU X 117116784 117116784 single base substitution C G intron_variant MELA-AU X 117116844 117116844 single base substitution A G intron_variant MELA-AU X 117117033 117117033 single base substitution C T intron_variant MELA-AU X 117117163 117117163 single base substitution G A intron_variant MELA-AU X 117117304 117117304 single base substitution C T intron_variant MELA-AU X 117117392 117117392 single base substitution C T intron_variant MELA-AU X 117117469 117117469 single base substitution C T 5_prime_UTR_variant MELA-AU X 117117469 117117469 single base substitution C T intron_variant MELA-AU X 117117469 117117469 single base substitution C T synonymous_variant K27K 81G>A MELA-AU X 117117867 117117867 single base substitution G A intron_variant MELA-AU X 117118050 117118050 single base substitution A G intron_variant MELA-AU X 117118119 117118119 single base substitution C T intron_variant MELA-AU X 117118322 117118322 single base substitution C T intron_variant MELA-AU X 117119029 117119029 single base substitution C T intron_variant MELA-AU X 117119043 117119043 single base substitution C T intron_variant MELA-AU X 117119184 117119184 single base substitution G A intron_variant MELA-AU X 117119341 117119341 single base substitution C T intron_variant MELA-AU X 117119341 117119341 single base substitution C T upstream_gene_variant MELA-AU X 117119427 117119427 single base substitution A C intron_variant MELA-AU X 117119427 117119427 single base substitution A C upstream_gene_variant MELA-AU X 117119503 117119503 single base substitution C T intron_variant MELA-AU X 117119503 117119503 single base substitution C T upstream_gene_variant MELA-AU X 117119513 117119513 single base substitution G C intron_variant MELA-AU X 117119513 117119513 single base substitution G C upstream_gene_variant MELA-AU X 117119623 117119623 single base substitution G A intron_variant MELA-AU X 117119623 117119623 single base substitution G A upstream_gene_variant MELA-AU X 117119657 117119657 single base substitution G A intron_variant MELA-AU X 117119657 117119657 single base substitution G A upstream_gene_variant MELA-AU X 117119680 117119680 single base substitution G T intron_variant MELA-AU X 117119680 117119680 single base substitution G T upstream_gene_variant MELA-AU X 117119728 117119728 single base substitution T C intron_variant MELA-AU X 117119728 117119728 single base substitution T C upstream_gene_variant MELA-AU X 117119801 117119801 single base substitution G A intron_variant MELA-AU X 117119801 117119801 single base substitution G A upstream_gene_variant MELA-AU X 117119828 117119828 single base substitution A G intron_variant MELA-AU X 117119828 117119828 single base substitution A G upstream_gene_variant MELA-AU X 117119951 117119951 single base substitution G A intron_variant MELA-AU X 117119951 117119951 single base substitution G A upstream_gene_variant MELA-AU X 117120016 117120016 single base substitution G A intron_variant MELA-AU X 117120016 117120016 single base substitution G A upstream_gene_variant MELA-AU X 117120699 117120699 single base substitution C T intron_variant MELA-AU X 117120699 117120699 single base substitution C T upstream_gene_variant MELA-AU X 117120962 117120962 single base substitution C T intron_variant MELA-AU X 117120962 117120962 single base substitution C T upstream_gene_variant MELA-AU X 117121093 117121093 single base substitution C T intron_variant MELA-AU X 117121093 117121093 single base substitution C T upstream_gene_variant MELA-AU X 117121101 117121101 single base substitution C T intron_variant MELA-AU X 117121101 117121101 single base substitution C T upstream_gene_variant MELA-AU X 117121227 117121227 single base substitution C T intron_variant MELA-AU X 117121227 117121227 single base substitution C T upstream_gene_variant MELA-AU X 117121331 117121331 single base substitution G A intron_variant MELA-AU X 117121331 117121331 single base substitution G A upstream_gene_variant MELA-AU X 117121701 117121701 single base substitution C T intron_variant MELA-AU X 117121701 117121701 single base substitution C T upstream_gene_variant MELA-AU X 117122073 117122073 single base substitution C T intron_variant MELA-AU X 117122073 117122073 single base substitution C T upstream_gene_variant MELA-AU X 117122080 117122080 single base substitution G A intron_variant MELA-AU X 117122080 117122080 single base substitution G A upstream_gene_variant MELA-AU X 117122357 117122357 single base substitution G A intron_variant MELA-AU X 117122357 117122357 single base substitution G A upstream_gene_variant MELA-AU X 117122399 117122399 single base substitution C T intron_variant MELA-AU X 117122399 117122399 single base substitution C T upstream_gene_variant MELA-AU X 117122540 117122540 single base substitution C T intron_variant MELA-AU X 117122540 117122540 single base substitution C T upstream_gene_variant MELA-AU X 117122584 117122584 single base substitution G A intron_variant MELA-AU X 117122584 117122584 single base substitution G A upstream_gene_variant MELA-AU X 117122667 117122667 single base substitution A G intron_variant MELA-AU X 117122667 117122667 single base substitution A G upstream_gene_variant MELA-AU X 117122717 117122717 single base substitution G A intron_variant MELA-AU X 117122717 117122717 single base substitution G A upstream_gene_variant MELA-AU X 117123189 117123189 single base substitution C T intron_variant MELA-AU X 117123189 117123189 single base substitution C T upstream_gene_variant MELA-AU X 117123213 117123213 single base substitution G A intron_variant MELA-AU X 117123213 117123213 single base substitution G A upstream_gene_variant MELA-AU X 117123370 117123370 single base substitution T C intron_variant MELA-AU X 117123370 117123370 single base substitution T C upstream_gene_variant MELA-AU X 117123651 117123651 single base substitution C T intron_variant MELA-AU X 117123651 117123651 single base substitution C T upstream_gene_variant MELA-AU X 117123688 117123688 single base substitution G A intron_variant MELA-AU X 117123688 117123688 single base substitution G A upstream_gene_variant MELA-AU X 117123840 117123840 single base substitution C T intron_variant MELA-AU X 117123840 117123840 single base substitution C T upstream_gene_variant MELA-AU X 117123890 117123890 single base substitution C T intron_variant MELA-AU X 117123890 117123890 single base substitution C T upstream_gene_variant MELA-AU X 117123900 117123900 single base substitution G A intron_variant MELA-AU X 117123900 117123900 single base substitution G A upstream_gene_variant MELA-AU X 117123903 117123903 single base substitution G A intron_variant MELA-AU X 117123903 117123903 single base substitution G A upstream_gene_variant MELA-AU X 117123904 117123904 single base substitution T C intron_variant MELA-AU X 117123904 117123904 single base substitution T C upstream_gene_variant MELA-AU X 117123983 117123983 single base substitution G A intron_variant MELA-AU X 117123983 117123983 single base substitution G A upstream_gene_variant MELA-AU X 117124061 117124061 single base substitution C T intron_variant MELA-AU X 117124061 117124061 single base substitution C T upstream_gene_variant MELA-AU X 117124077 117124077 single base substitution C T intron_variant MELA-AU X 117124077 117124077 single base substitution C T upstream_gene_variant MELA-AU X 117124316 117124316 single base substitution G A intron_variant MELA-AU X 117124562 117124562 single base substitution A C intron_variant MELA-AU X 117124596 117124596 single base substitution G A intron_variant MELA-AU X 117124928 117124928 single base substitution G T intron_variant MELA-AU X 117124943 117124943 single base substitution G A intron_variant MELA-AU X 117125082 117125082 single base substitution G A intron_variant MELA-AU X 117125153 117125153 single base substitution G A intron_variant MELA-AU X 117125453 117125453 single base substitution C T intron_variant MELA-AU X 117125728 117125728 single base substitution G A intron_variant MELA-AU X 117125904 117125904 single base substitution G A intron_variant MELA-AU X 117126012 117126012 single base substitution G A intron_variant MELA-AU X 117126163 117126163 single base substitution G A intron_variant MELA-AU X 117126302 117126302 single base substitution C T intron_variant MELA-AU X 117126552 117126552 single base substitution G A intron_variant MELA-AU X 117126610 117126610 single base substitution C T intron_variant MELA-AU X 117126755 117126755 single base substitution C T intron_variant MELA-AU X 117126953 117126953 single base substitution G A intron_variant MELA-AU X 117127077 117127077 single base substitution G A intron_variant MELA-AU X 117127079 117127079 single base substitution A C intron_variant MELA-AU X 117127311 117127311 single base substitution G A intron_variant MELA-AU X 117127399 117127399 single base substitution C T intron_variant MELA-AU X 117127437 117127437 single base substitution C T intron_variant MELA-AU X 117127475 117127475 single base substitution C A intron_variant MELA-AU X 117127475 117127475 single base substitution C T intron_variant MELA-AU X 117127519 117127519 single base substitution G A intron_variant MELA-AU X 117127521 117127521 single base substitution A T intron_variant MELA-AU X 117127798 117127798 single base substitution C T intron_variant MELA-AU X 117127861 117127861 single base substitution G A intron_variant MELA-AU X 117128013 117128013 single base substitution A G intron_variant MELA-AU X 117128161 117128161 single base substitution C T intron_variant MELA-AU X 117128182 117128182 single base substitution C T intron_variant MELA-AU X 117128183 117128183 single base substitution T A intron_variant MELA-AU X 117128198 117128198 single base substitution C T intron_variant MELA-AU X 117128218 117128218 single base substitution C T intron_variant MELA-AU X 117128405 117128405 single base substitution G A intron_variant MELA-AU X 117128405 117128405 single base substitution G C intron_variant MELA-AU X 117128456 117128456 single base substitution C T intron_variant MELA-AU X 117128457 117128457 single base substitution C T intron_variant MELA-AU X 117128692 117128692 single base substitution T C intron_variant MELA-AU X 117128882 117128882 single base substitution G A intron_variant MELA-AU X 117128943 117128943 single base substitution C T intron_variant MELA-AU X 117129183 117129183 single base substitution G A intron_variant MELA-AU X 117129229 117129229 single base substitution G A intron_variant MELA-AU X 117129369 117129369 single base substitution C T intron_variant MELA-AU X 117129389 117129389 single base substitution G A intron_variant MELA-AU X 117129868 117129868 single base substitution C T intron_variant MELA-AU X 117129983 117129983 single base substitution G A intron_variant MELA-AU X 117130091 117130091 single base substitution G A intron_variant MELA-AU X 117130341 117130341 single base substitution C T intron_variant MELA-AU X 117131110 117131110 single base substitution T A intron_variant MELA-AU X 117131620 117131620 single base substitution C T intron_variant MELA-AU X 117132000 117132000 single base substitution G A intron_variant MELA-AU X 117132058 117132058 single base substitution A T intron_variant MELA-AU X 117132171 117132171 single base substitution G A intron_variant MELA-AU X 117132226 117132226 single base substitution G A intron_variant MELA-AU X 117132257 117132257 single base substitution G A intron_variant MELA-AU X 117132264 117132264 single base substitution G A intron_variant MELA-AU X 117132343 117132343 single base substitution G A intron_variant MELA-AU X 117132396 117132396 single base substitution G A intron_variant MELA-AU X 117132402 117132402 single base substitution G A intron_variant MELA-AU X 117132569 117132569 single base substitution G A intron_variant MELA-AU X 117133379 117133379 single base substitution C T intron_variant MELA-AU X 117134081 117134081 single base substitution G A intron_variant MELA-AU X 117134157 117134157 single base substitution C T intron_variant MELA-AU X 117134238 117134238 single base substitution G A intron_variant MELA-AU X 117134315 117134315 single base substitution C T intron_variant MELA-AU X 117134510 117134510 single base substitution G A intron_variant MELA-AU X 117134517 117134517 single base substitution C T intron_variant MELA-AU X 117134715 117134715 single base substitution G A intron_variant MELA-AU X 117134855 117134855 single base substitution C T intron_variant MELA-AU X 117134868 117134868 single base substitution C T intron_variant MELA-AU X 117134980 117134980 single base substitution G A intron_variant MELA-AU X 117135043 117135043 single base substitution C T intron_variant MELA-AU X 117135055 117135055 single base substitution C T intron_variant MELA-AU X 117135227 117135227 single base substitution C T intron_variant MELA-AU X 117135259 117135259 single base substitution C T intron_variant MELA-AU X 117135326 117135326 single base substitution G A intron_variant MELA-AU X 117135445 117135445 single base substitution G A intron_variant MELA-AU X 117135497 117135497 single base substitution C T intron_variant MELA-AU X 117135515 117135515 single base substitution G A intron_variant MELA-AU X 117135524 117135524 single base substitution G A intron_variant MELA-AU X 117135525 117135525 single base substitution G A intron_variant MELA-AU X 117135587 117135587 single base substitution G A intron_variant MELA-AU X 117135673 117135673 single base substitution G A intron_variant MELA-AU X 117135928 117135928 single base substitution C T intron_variant MELA-AU X 117136189 117136189 single base substitution C T intron_variant MELA-AU X 117136431 117136431 single base substitution C T intron_variant MELA-AU X 117136505 117136505 single base substitution G A intron_variant MELA-AU X 117136557 117136557 single base substitution G A intron_variant MELA-AU X 117136638 117136638 single base substitution C T intron_variant MELA-AU X 117136799 117136799 single base substitution G A intron_variant MELA-AU X 117136822 117136822 single base substitution C T intron_variant MELA-AU X 117136888 117136888 single base substitution T C intron_variant MELA-AU X 117136976 117136976 single base substitution G A intron_variant MELA-AU X 117137192 117137192 single base substitution C T intron_variant MELA-AU X 117137277 117137277 single base substitution C T intron_variant MELA-AU X 117137425 117137425 insertion of <=200bp - A intron_variant MELA-AU X 117137495 117137495 single base substitution C T intron_variant MELA-AU X 117137661 117137661 single base substitution T A intron_variant MELA-AU X 117137668 117137668 single base substitution G A intron_variant MELA-AU X 117137713 117137713 single base substitution C T intron_variant MELA-AU X 117137771 117137771 single base substitution C T intron_variant MELA-AU X 117137898 117137898 single base substitution G A intron_variant MELA-AU X 117137965 117137965 single base substitution G A intron_variant MELA-AU X 117138189 117138189 single base substitution G T intron_variant MELA-AU X 117138367 117138367 single base substitution G A intron_variant MELA-AU X 117138579 117138579 single base substitution G A intron_variant MELA-AU X 117138859 117138859 single base substitution C T intron_variant MELA-AU X 117138979 117138979 single base substitution G A intron_variant MELA-AU X 117138998 117138998 single base substitution T C intron_variant MELA-AU X 117139058 117139058 single base substitution G A intron_variant MELA-AU X 117139255 117139255 single base substitution G A intron_variant MELA-AU X 117139327 117139327 single base substitution C T intron_variant MELA-AU X 117139602 117139602 single base substitution C T intron_variant MELA-AU X 117139613 117139613 single base substitution G A intron_variant MELA-AU X 117139669 117139669 single base substitution G A intron_variant MELA-AU X 117139682 117139682 single base substitution C T intron_variant MELA-AU X 117139693 117139693 single base substitution C T intron_variant MELA-AU X 117139877 117139877 single base substitution G A intron_variant MELA-AU X 117140257 117140257 single base substitution T A intron_variant MELA-AU X 117140329 117140329 single base substitution T A intron_variant MELA-AU X 117140458 117140458 single base substitution G A intron_variant MELA-AU X 117140499 117140499 single base substitution G A intron_variant MELA-AU X 117140557 117140557 single base substitution C T intron_variant MELA-AU X 117140655 117140655 single base substitution C T intron_variant MELA-AU X 117140663 117140663 single base substitution G A intron_variant MELA-AU X 117140708 117140708 single base substitution G A intron_variant MELA-AU X 117140847 117140847 single base substitution G T intron_variant MELA-AU X 117141144 117141144 single base substitution G A intron_variant MELA-AU X 117141178 117141178 single base substitution G A intron_variant MELA-AU X 117141406 117141406 single base substitution G T intron_variant MELA-AU X 117141486 117141486 single base substitution C T intron_variant MELA-AU X 117141546 117141546 single base substitution C T intron_variant MELA-AU X 117141633 117141633 single base substitution G A intron_variant MELA-AU X 117141640 117141640 single base substitution G A intron_variant MELA-AU X 117141783 117141783 single base substitution G A intron_variant MELA-AU X 117141920 117141920 single base substitution G A intron_variant MELA-AU X 117141960 117141960 single base substitution G A intron_variant MELA-AU X 117142002 117142002 single base substitution G A intron_variant MELA-AU X 117142191 117142191 single base substitution G A intron_variant MELA-AU X 117142243 117142243 single base substitution A G intron_variant MELA-AU X 117142333 117142333 single base substitution G A intron_variant MELA-AU X 117142559 117142559 single base substitution C T intron_variant MELA-AU X 117142669 117142669 single base substitution G A intron_variant MELA-AU X 117142673 117142673 single base substitution G A intron_variant MELA-AU X 117142721 117142721 single base substitution C T intron_variant MELA-AU X 117142800 117142800 single base substitution C T intron_variant MELA-AU X 117143030 117143030 single base substitution C T intron_variant MELA-AU X 117143887 117143887 single base substitution C T intron_variant MELA-AU X 117143915 117143915 single base substitution G A intron_variant MELA-AU X 117143977 117143977 single base substitution G A intron_variant MELA-AU X 117144730 117144730 single base substitution G A intron_variant MELA-AU X 117144861 117144861 single base substitution C T intron_variant MELA-AU X 117145399 117145399 single base substitution G A intron_variant MELA-AU X 117145475 117145475 single base substitution G A intron_variant MELA-AU X 117145855 117145855 single base substitution C T intron_variant MELA-AU X 117145906 117145906 single base substitution G A intron_variant MELA-AU X 117146120 117146120 single base substitution C T intron_variant MELA-AU X 117146171 117146171 single base substitution G A intron_variant MELA-AU X 117146183 117146183 single base substitution C T intron_variant MELA-AU X 117146217 117146217 single base substitution C T intron_variant MELA-AU X 117146303 117146303 single base substitution A C intron_variant MELA-AU X 117146460 117146460 single base substitution C T intron_variant MELA-AU X 117146461 117146461 single base substitution C T intron_variant MELA-AU X 117146493 117146493 single base substitution C T intron_variant MELA-AU X 117146715 117146715 single base substitution C T intron_variant MELA-AU X 117146821 117146821 single base substitution A T intron_variant MELA-AU X 117146845 117146845 single base substitution G A intron_variant MELA-AU X 117146949 117146949 single base substitution G A intron_variant MELA-AU X 117147046 117147046 single base substitution T C intron_variant MELA-AU X 117147113 117147113 single base substitution C T intron_variant MELA-AU X 117147125 117147125 single base substitution G A intron_variant MELA-AU X 117147146 117147146 single base substitution G A intron_variant MELA-AU X 117147210 117147210 single base substitution T A intron_variant MELA-AU X 117147251 117147251 single base substitution G A intron_variant MELA-AU X 117147363 117147363 single base substitution G A intron_variant MELA-AU X 117147540 117147540 single base substitution G A intron_variant MELA-AU X 117147602 117147602 single base substitution G A intron_variant MELA-AU X 117147628 117147628 single base substitution C T intron_variant MELA-AU X 117148067 117148067 single base substitution G A intron_variant MELA-AU X 117148084 117148084 single base substitution C T intron_variant MELA-AU X 117148272 117148272 single base substitution G A intron_variant MELA-AU X 117148354 117148354 single base substitution G A intron_variant MELA-AU X 117148623 117148623 single base substitution G A intron_variant MELA-AU X 117148662 117148662 single base substitution C T intron_variant MELA-AU X 117148711 117148711 single base substitution G A intron_variant MELA-AU X 117148712 117148712 single base substitution G A intron_variant MELA-AU X 117148774 117148774 single base substitution G A intron_variant MELA-AU X 117148939 117148939 single base substitution G A intron_variant MELA-AU X 117148944 117148944 single base substitution C T intron_variant MELA-AU X 117149052 117149052 single base substitution G A intron_variant MELA-AU X 117149189 117149189 single base substitution A G intron_variant MELA-AU X 117149268 117149268 single base substitution T C intron_variant MELA-AU X 117149412 117149412 single base substitution A T intron_variant MELA-AU X 117149704 117149704 single base substitution C T intron_variant MELA-AU X 117149742 117149742 single base substitution G A intron_variant MELA-AU X 117149829 117149829 single base substitution T C intron_variant MELA-AU X 117149902 117149902 single base substitution G A intron_variant MELA-AU X 117149985 117149985 single base substitution G A intron_variant MELA-AU X 117150000 117150000 single base substitution G A intron_variant MELA-AU X 117150090 117150090 single base substitution C T intron_variant MELA-AU X 117150150 117150150 single base substitution C T intron_variant MELA-AU X 117150621 117150621 single base substitution C T intron_variant MELA-AU X 117150959 117150959 single base substitution A C intron_variant MELA-AU X 117151009 117151009 single base substitution C T intron_variant MELA-AU X 117151010 117151010 single base substitution C T intron_variant MELA-AU X 117151284 117151284 single base substitution C T intron_variant MELA-AU X 117151371 117151371 single base substitution G A intron_variant MELA-AU X 117151399 117151399 single base substitution C T intron_variant MELA-AU X 117151479 117151479 single base substitution G A intron_variant MELA-AU X 117151806 117151806 single base substitution C T intron_variant MELA-AU X 117151811 117151811 single base substitution G A intron_variant MELA-AU X 117152378 117152378 single base substitution G A intron_variant MELA-AU X 117152460 117152460 single base substitution G A intron_variant MELA-AU X 117152748 117152748 single base substitution G A intron_variant MELA-AU X 117152751 117152751 single base substitution T A intron_variant MELA-AU X 117152960 117152960 single base substitution G T intron_variant MELA-AU X 117152995 117152995 single base substitution C T intron_variant MELA-AU X 117153060 117153060 single base substitution A G intron_variant MELA-AU X 117153072 117153072 single base substitution C T intron_variant MELA-AU X 117153144 117153144 single base substitution C T intron_variant MELA-AU X 117153568 117153568 single base substitution C T intron_variant MELA-AU X 117153635 117153635 single base substitution A C intron_variant MELA-AU X 117154223 117154223 single base substitution G A intron_variant MELA-AU X 117154260 117154260 single base substitution C T intron_variant MELA-AU X 117154346 117154346 single base substitution G A intron_variant MELA-AU X 117154587 117154587 single base substitution C T intron_variant MELA-AU X 117154796 117154796 single base substitution C T intron_variant MELA-AU X 117155251 117155251 single base substitution G T intron_variant MELA-AU X 117155625 117155625 single base substitution C T intron_variant MELA-AU X 117155652 117155652 single base substitution G A intron_variant MELA-AU X 117155699 117155699 single base substitution C T intron_variant MELA-AU X 117155699 117155700 multiple base substitution (>=2bp and <=200bp) CC TT intron_variant MELA-AU X 117155740 117155740 single base substitution G A intron_variant MELA-AU X 117155753 117155753 single base substitution C T intron_variant MELA-AU X 117155760 117155760 single base substitution C T intron_variant MELA-AU X 117155766 117155766 single base substitution G A intron_variant MELA-AU X 117155869 117155869 single base substitution C T intron_variant MELA-AU X 117156021 117156021 single base substitution C T intron_variant MELA-AU X 117156045 117156045 single base substitution G A intron_variant MELA-AU X 117156137 117156137 single base substitution T A intron_variant MELA-AU X 117156224 117156224 single base substitution C T intron_variant MELA-AU X 117156272 117156272 single base substitution G A intron_variant MELA-AU X 117156539 117156539 single base substitution C T intron_variant MELA-AU X 117156634 117156634 single base substitution T C intron_variant MELA-AU X 117156716 117156716 single base substitution G A intron_variant MELA-AU X 117156731 117156731 single base substitution C T intron_variant MELA-AU X 117156756 117156756 single base substitution C T intron_variant MELA-AU X 117156892 117156892 single base substitution C T intron_variant MELA-AU X 117156904 117156904 single base substitution C T intron_variant MELA-AU X 117156922 117156922 single base substitution C T intron_variant MELA-AU X 117156975 117156975 single base substitution C T intron_variant MELA-AU X 117157112 117157112 single base substitution T A intron_variant MELA-AU X 117157248 117157248 single base substitution A T intron_variant MELA-AU X 117157289 117157289 single base substitution C T intron_variant MELA-AU X 117157320 117157320 single base substitution C T intron_variant MELA-AU X 117157595 117157595 single base substitution G A intron_variant MELA-AU X 117157666 117157666 single base substitution G A intron_variant MELA-AU X 117157685 117157685 single base substitution C T intron_variant MELA-AU X 117157982 117157982 single base substitution C T intron_variant MELA-AU X 117157990 117157990 single base substitution C T intron_variant MELA-AU X 117158051 117158051 single base substitution C T intron_variant MELA-AU X 117158067 117158067 single base substitution C T intron_variant MELA-AU X 117158177 117158177 single base substitution A G intron_variant MELA-AU X 117158248 117158248 single base substitution T A intron_variant MELA-AU X 117158282 117158282 single base substitution G A intron_variant MELA-AU X 117158350 117158350 single base substitution G A intron_variant MELA-AU X 117158374 117158374 single base substitution C T intron_variant MELA-AU X 117158381 117158381 single base substitution A T intron_variant MELA-AU X 117158446 117158446 single base substitution G A intron_variant MELA-AU X 117158477 117158477 single base substitution C T intron_variant MELA-AU X 117158495 117158495 single base substitution C T intron_variant MELA-AU X 117158504 117158504 single base substitution C T intron_variant MELA-AU X 117158823 117158823 single base substitution C T intron_variant MELA-AU X 117158953 117158953 single base substitution G A intron_variant MELA-AU X 117158991 117158991 single base substitution G A intron_variant MELA-AU X 117159167 117159167 single base substitution C T intron_variant MELA-AU X 117159457 117159457 single base substitution G A intron_variant MELA-AU X 117159807 117159807 single base substitution C T intron_variant MELA-AU X 117159871 117159871 single base substitution G A intron_variant MELA-AU X 117159880 117159880 single base substitution T C intron_variant MELA-AU X 117160062 117160063 multiple base substitution (>=2bp and <=200bp) TA AT intron_variant MELA-AU X 117160073 117160073 single base substitution C T intron_variant MELA-AU X 117160547 117160547 single base substitution A C intron_variant MELA-AU X 117160646 117160646 single base substitution G A intron_variant MELA-AU X 117160890 117160890 single base substitution C T intron_variant MELA-AU X 117160894 117160894 single base substitution G A intron_variant MELA-AU X 117161476 117161476 single base substitution T A intron_variant MELA-AU X 117161496 117161496 single base substitution C T intron_variant MELA-AU X 117161573 117161573 single base substitution C T intron_variant MELA-AU X 117161662 117161662 single base substitution T C intron_variant MELA-AU X 117161682 117161682 single base substitution C T intron_variant MELA-AU X 117161726 117161726 single base substitution G A intron_variant MELA-AU X 117161750 117161750 single base substitution G A intron_variant MELA-AU X 117161792 117161792 single base substitution G A intron_variant MELA-AU X 117161891 117161891 single base substitution G A intron_variant MELA-AU X 117161922 117161922 single base substitution C T intron_variant MELA-AU X 117162024 117162024 single base substitution C T intron_variant MELA-AU X 117162184 117162184 single base substitution C T intron_variant MELA-AU X 117162193 117162193 single base substitution C T intron_variant MELA-AU X 117162257 117162257 single base substitution C T intron_variant MELA-AU X 117162394 117162394 single base substitution G A 5_prime_UTR_premature_start_codon_gain_variant MELA-AU X 117162394 117162394 single base substitution G A intron_variant MELA-AU X 117162394 117162394 single base substitution G A missense_variant R15C 43C>T MELA-AU X 117162415 117162415 single base substitution C T 5_prime_UTR_variant MELA-AU X 117162415 117162415 single base substitution C T intron_variant MELA-AU X 117162415 117162415 single base substitution C T missense_variant E8K 22G>A MELA-AU X 117162468 117162468 single base substitution G A intron_variant MELA-AU X 117162468 117162468 single base substitution G A splice_region_variant MELA-AU X 117162468 117162468 single base substitution G A upstream_gene_variant MELA-AU X 117162472 117162472 single base substitution G A intron_variant MELA-AU X 117162472 117162472 single base substitution G A upstream_gene_variant MELA-AU X 117162702 117162702 single base substitution C T intron_variant MELA-AU X 117162702 117162702 single base substitution C T upstream_gene_variant MELA-AU X 117162884 117162884 single base substitution C T intron_variant MELA-AU X 117162884 117162884 single base substitution C T upstream_gene_variant MELA-AU X 117162896 117162896 single base substitution C T intron_variant MELA-AU X 117162896 117162896 single base substitution C T upstream_gene_variant MELA-AU X 117162933 117162933 single base substitution C T intron_variant MELA-AU X 117162933 117162933 single base substitution C T upstream_gene_variant MELA-AU X 117162985 117162985 single base substitution C T intron_variant MELA-AU X 117162985 117162985 single base substitution C T upstream_gene_variant MELA-AU X 117163067 117163067 single base substitution G A intron_variant MELA-AU X 117163067 117163067 single base substitution G A upstream_gene_variant MELA-AU X 117163139 117163139 single base substitution T C intron_variant MELA-AU X 117163139 117163139 single base substitution T C upstream_gene_variant MELA-AU X 117163168 117163169 multiple base substitution (>=2bp and <=200bp) GG AA intron_variant MELA-AU X 117163168 117163169 multiple base substitution (>=2bp and <=200bp) GG AA upstream_gene_variant MELA-AU X 117163283 117163283 single base substitution G A intron_variant MELA-AU X 117163283 117163283 single base substitution G A upstream_gene_variant MELA-AU X 117163364 117163364 single base substitution T A intron_variant MELA-AU X 117163364 117163364 single base substitution T A upstream_gene_variant MELA-AU X 117163517 117163517 single base substitution C T intron_variant MELA-AU X 117163517 117163517 single base substitution C T upstream_gene_variant MELA-AU X 117163838 117163838 single base substitution G A intron_variant MELA-AU X 117163838 117163838 single base substitution G A upstream_gene_variant MELA-AU X 117163866 117163866 single base substitution G A intron_variant MELA-AU X 117163866 117163866 single base substitution G A upstream_gene_variant MELA-AU X 117163889 117163889 single base substitution G A intron_variant MELA-AU X 117163889 117163889 single base substitution G A upstream_gene_variant MELA-AU X 117163924 117163924 single base substitution C T intron_variant MELA-AU X 117163924 117163924 single base substitution C T upstream_gene_variant MELA-AU X 117163985 117163985 single base substitution C T intron_variant MELA-AU X 117163985 117163985 single base substitution C T upstream_gene_variant MELA-AU X 117164006 117164006 single base substitution G A intron_variant MELA-AU X 117164006 117164006 single base substitution G A upstream_gene_variant MELA-AU X 117164062 117164062 single base substitution G A intron_variant MELA-AU X 117164062 117164062 single base substitution G A upstream_gene_variant MELA-AU X 117164281 117164281 single base substitution G A intron_variant MELA-AU X 117164281 117164281 single base substitution G A upstream_gene_variant MELA-AU X 117164355 117164355 single base substitution G A intron_variant MELA-AU X 117164355 117164355 single base substitution G A upstream_gene_variant MELA-AU X 117164424 117164424 single base substitution C T intron_variant MELA-AU X 117164424 117164424 single base substitution C T upstream_gene_variant MELA-AU X 117164559 117164559 single base substitution G A intron_variant MELA-AU X 117164559 117164559 single base substitution G A upstream_gene_variant MELA-AU X 117164588 117164588 single base substitution C T intron_variant MELA-AU X 117164588 117164588 single base substitution C T upstream_gene_variant MELA-AU X 117164861 117164861 single base substitution C T intron_variant MELA-AU X 117164861 117164861 single base substitution C T upstream_gene_variant MELA-AU X 117164957 117164957 single base substitution G A intron_variant MELA-AU X 117164957 117164957 single base substitution G A upstream_gene_variant MELA-AU X 117165139 117165139 single base substitution G A intron_variant MELA-AU X 117165139 117165139 single base substitution G A upstream_gene_variant MELA-AU X 117165186 117165186 single base substitution C T intron_variant MELA-AU X 117165186 117165186 single base substitution C T upstream_gene_variant MELA-AU X 117165199 117165199 single base substitution C T intron_variant MELA-AU X 117165199 117165199 single base substitution C T upstream_gene_variant MELA-AU X 117165313 117165313 single base substitution G A intron_variant MELA-AU X 117165313 117165313 single base substitution G A upstream_gene_variant MELA-AU X 117165674 117165674 single base substitution T C intron_variant MELA-AU X 117165674 117165674 single base substitution T C upstream_gene_variant MELA-AU X 117165987 117165987 single base substitution C T intron_variant MELA-AU X 117165987 117165987 single base substitution C T upstream_gene_variant MELA-AU X 117166124 117166124 single base substitution G A intron_variant MELA-AU X 117166124 117166124 single base substitution G A upstream_gene_variant MELA-AU X 117166253 117166253 single base substitution G A intron_variant MELA-AU X 117166253 117166253 single base substitution G A upstream_gene_variant MELA-AU X 117166412 117166412 single base substitution C G intron_variant MELA-AU X 117166412 117166412 single base substitution C G upstream_gene_variant MELA-AU X 117166508 117166508 single base substitution G A intron_variant MELA-AU X 117166508 117166508 single base substitution G A upstream_gene_variant MELA-AU X 117166599 117166599 single base substitution G A intron_variant MELA-AU X 117166599 117166599 single base substitution G A upstream_gene_variant MELA-AU X 117166963 117166963 single base substitution G A intron_variant MELA-AU X 117166963 117166963 single base substitution G A upstream_gene_variant MELA-AU X 117166992 117166992 single base substitution G A intron_variant MELA-AU X 117166992 117166992 single base substitution G A upstream_gene_variant MELA-AU X 117167103 117167103 single base substitution G A intron_variant MELA-AU X 117167103 117167103 single base substitution G A upstream_gene_variant MELA-AU X 117167135 117167135 single base substitution G A intron_variant MELA-AU X 117167135 117167135 single base substitution G A upstream_gene_variant MELA-AU X 117167275 117167275 single base substitution G A intron_variant MELA-AU X 117167275 117167275 single base substitution G A upstream_gene_variant MELA-AU X 117167279 117167279 single base substitution G A intron_variant MELA-AU X 117167279 117167279 single base substitution G A upstream_gene_variant MELA-AU X 117167389 117167389 single base substitution G A intron_variant MELA-AU X 117167389 117167389 single base substitution G A upstream_gene_variant MELA-AU X 117167396 117167396 single base substitution A G intron_variant MELA-AU X 117167396 117167396 single base substitution A G upstream_gene_variant MELA-AU X 117167417 117167417 single base substitution G A intron_variant MELA-AU X 117167417 117167417 single base substitution G A upstream_gene_variant MELA-AU X 117167424 117167424 single base substitution C T intron_variant MELA-AU X 117167424 117167424 single base substitution C T upstream_gene_variant MELA-AU X 117167437 117167437 single base substitution C T intron_variant MELA-AU X 117167437 117167437 single base substitution C T upstream_gene_variant MELA-AU X 117167550 117167550 single base substitution G A intron_variant MELA-AU X 117167692 117167692 single base substitution C T intron_variant MELA-AU X 117169219 117169219 single base substitution T A intron_variant MELA-AU X 117169257 117169257 single base substitution G A intron_variant MELA-AU X 117169339 117169339 single base substitution T C intron_variant MELA-AU X 117169668 117169668 single base substitution C T intron_variant MELA-AU X 117170367 117170367 single base substitution C T intron_variant MELA-AU X 117170459 117170459 single base substitution G A intron_variant MELA-AU X 117170556 117170556 single base substitution C T intron_variant MELA-AU X 117170563 117170563 single base substitution G A intron_variant MELA-AU X 117170592 117170592 single base substitution C T intron_variant MELA-AU X 117170602 117170602 single base substitution C T intron_variant MELA-AU X 117170609 117170609 single base substitution G A intron_variant MELA-AU X 117170766 117170766 single base substitution G A intron_variant MELA-AU X 117170767 117170767 single base substitution G A intron_variant MELA-AU X 117171579 117171579 single base substitution G A intron_variant MELA-AU X 117171590 117171590 single base substitution G A intron_variant MELA-AU X 117171757 117171757 single base substitution G A intron_variant MELA-AU X 117171961 117171961 single base substitution G A intron_variant MELA-AU X 117171972 117171972 single base substitution G A intron_variant MELA-AU X 117171996 117171996 single base substitution G A intron_variant MELA-AU X 117172249 117172249 single base substitution G A intron_variant MELA-AU X 117172255 117172255 single base substitution G A intron_variant MELA-AU X 117172318 117172318 single base substitution C T intron_variant MELA-AU X 117172348 117172348 single base substitution G A intron_variant MELA-AU X 117172397 117172397 single base substitution C T intron_variant MELA-AU X 117172531 117172531 single base substitution G A intron_variant MELA-AU X 117172794 117172795 multiple base substitution (>=2bp and <=200bp) GG AA intron_variant MELA-AU X 117172795 117172795 single base substitution G A intron_variant MELA-AU X 117172810 117172810 single base substitution G A intron_variant MELA-AU X 117172813 117172813 single base substitution C T intron_variant MELA-AU X 117172883 117172883 single base substitution G A intron_variant MELA-AU X 117172893 117172893 single base substitution G A intron_variant MELA-AU X 117173019 117173019 single base substitution G A intron_variant MELA-AU X 117173060 117173060 single base substitution G A intron_variant MELA-AU X 117173082 117173082 single base substitution G A intron_variant MELA-AU X 117173097 117173097 single base substitution G A intron_variant MELA-AU X 117173244 117173244 single base substitution C T intron_variant MELA-AU X 117173253 117173253 single base substitution C T intron_variant MELA-AU X 117173458 117173458 single base substitution C T intron_variant MELA-AU X 117173474 117173474 single base substitution G A intron_variant MELA-AU X 117173597 117173597 single base substitution C T intron_variant MELA-AU X 117173617 117173617 single base substitution G A intron_variant MELA-AU X 117173663 117173663 single base substitution C T intron_variant MELA-AU X 117173833 117173833 single base substitution C T intron_variant MELA-AU X 117173852 117173852 single base substitution G A intron_variant MELA-AU X 117173860 117173860 single base substitution G A intron_variant MELA-AU X 117173882 117173882 single base substitution G A intron_variant MELA-AU X 117173882 117173882 single base substitution G T intron_variant MELA-AU X 117173904 117173905 multiple base substitution (>=2bp and <=200bp) GG AA intron_variant MELA-AU X 117173990 117173990 single base substitution G A intron_variant MELA-AU X 117174099 117174099 single base substitution G A intron_variant MELA-AU X 117174117 117174117 single base substitution C T intron_variant MELA-AU X 117174144 117174144 single base substitution T C intron_variant MELA-AU X 117174170 117174170 single base substitution G A intron_variant MELA-AU X 117174206 117174206 single base substitution G A intron_variant MELA-AU X 117174233 117174233 single base substitution A G intron_variant MELA-AU X 117174305 117174305 single base substitution G A intron_variant MELA-AU X 117174367 117174367 single base substitution G A intron_variant MELA-AU X 117174485 117174485 single base substitution G A intron_variant MELA-AU X 117174584 117174584 single base substitution G A intron_variant MELA-AU X 117174760 117174760 single base substitution G A intron_variant MELA-AU X 117174825 117174825 single base substitution A C intron_variant MELA-AU X 117174889 117174889 single base substitution G A intron_variant MELA-AU X 117174926 117174926 single base substitution G A intron_variant MELA-AU X 117175167 117175167 single base substitution C T intron_variant MELA-AU X 117175446 117175446 single base substitution C T intron_variant MELA-AU X 117175485 117175485 single base substitution C T intron_variant MELA-AU X 117175531 117175532 multiple base substitution (>=2bp and <=200bp) GG AA intron_variant MELA-AU X 117175533 117175533 single base substitution G A intron_variant MELA-AU X 117175666 117175666 single base substitution C T intron_variant MELA-AU X 117175761 117175761 single base substitution G A intron_variant MELA-AU X 117175968 117175968 single base substitution G A intron_variant MELA-AU X 117176308 117176308 single base substitution A G intron_variant MELA-AU X 117176345 117176345 single base substitution C T intron_variant MELA-AU X 117176498 117176498 single base substitution A T intron_variant MELA-AU X 117176502 117176502 single base substitution C T intron_variant MELA-AU X 117176637 117176637 single base substitution G A intron_variant MELA-AU X 117176664 117176664 single base substitution G A intron_variant MELA-AU X 117176846 117176846 single base substitution C T intron_variant MELA-AU X 117177159 117177159 single base substitution C T intron_variant MELA-AU X 117177160 117177160 single base substitution C T intron_variant MELA-AU X 117177252 117177252 single base substitution G A intron_variant MELA-AU X 117177317 117177317 single base substitution G A intron_variant MELA-AU X 117177343 117177343 single base substitution C T intron_variant MELA-AU X 117177608 117177608 single base substitution C T intron_variant MELA-AU X 117177645 117177645 single base substitution C T intron_variant MELA-AU X 117177696 117177696 single base substitution G A intron_variant MELA-AU X 117177895 117177895 single base substitution G A intron_variant MELA-AU X 117177904 117177904 single base substitution G A intron_variant MELA-AU X 117177936 117177936 single base substitution G A intron_variant MELA-AU X 117178189 117178189 single base substitution G A intron_variant MELA-AU X 117178296 117178296 single base substitution C T intron_variant MELA-AU X 117178339 117178339 single base substitution A T intron_variant MELA-AU X 117178413 117178413 single base substitution G A intron_variant MELA-AU X 117178945 117178945 single base substitution C T intron_variant MELA-AU X 117179084 117179084 single base substitution C T intron_variant MELA-AU X 117179221 117179221 single base substitution C T intron_variant MELA-AU X 117179932 117179932 single base substitution G A intron_variant MELA-AU X 117179939 117179939 single base substitution G C intron_variant MELA-AU X 117180055 117180055 single base substitution C T intron_variant MELA-AU X 117180536 117180536 single base substitution A T intron_variant MELA-AU X 117180546 117180546 single base substitution G A intron_variant MELA-AU X 117180680 117180680 single base substitution G A intron_variant MELA-AU X 117180716 117180716 single base substitution A C intron_variant MELA-AU X 117180740 117180740 single base substitution G A intron_variant MELA-AU X 117181018 117181018 single base substitution G A intron_variant MELA-AU X 117181020 117181020 single base substitution T A intron_variant MELA-AU X 117181283 117181283 single base substitution A G intron_variant MELA-AU X 117181367 117181367 single base substitution G A intron_variant MELA-AU X 117181834 117181834 single base substitution G A intron_variant MELA-AU X 117181839 117181839 single base substitution G A intron_variant MELA-AU X 117182308 117182308 single base substitution G A intron_variant MELA-AU X 117182342 117182342 single base substitution G A intron_variant MELA-AU X 117182381 117182381 single base substitution G A intron_variant MELA-AU X 117182390 117182390 single base substitution G A intron_variant MELA-AU X 117182409 117182409 single base substitution G A intron_variant MELA-AU X 117182581 117182581 single base substitution T A intron_variant MELA-AU X 117182599 117182599 single base substitution C T intron_variant MELA-AU X 117182733 117182733 single base substitution C T intron_variant MELA-AU X 117183125 117183125 single base substitution G A intron_variant MELA-AU X 117183167 117183167 single base substitution C T intron_variant MELA-AU X 117183228 117183228 single base substitution G A intron_variant MELA-AU X 117183309 117183309 single base substitution C T intron_variant MELA-AU X 117183345 117183345 single base substitution C T intron_variant MELA-AU X 117183461 117183461 single base substitution C T intron_variant MELA-AU X 117183485 117183485 single base substitution C T intron_variant MELA-AU X 117183515 117183515 single base substitution A T intron_variant MELA-AU X 117183778 117183778 single base substitution C T intron_variant MELA-AU X 117184150 117184150 single base substitution C T intron_variant MELA-AU X 117184169 117184169 single base substitution C T intron_variant MELA-AU X 117184324 117184324 single base substitution G A intron_variant MELA-AU X 117184437 117184437 single base substitution C T intron_variant MELA-AU X 117184537 117184537 single base substitution C T intron_variant MELA-AU X 117184581 117184581 single base substitution C T intron_variant MELA-AU X 117184860 117184860 single base substitution G A intron_variant MELA-AU X 117184922 117184922 single base substitution C T intron_variant MELA-AU X 117184928 117184928 single base substitution G A intron_variant MELA-AU X 117185302 117185302 single base substitution G A intron_variant MELA-AU X 117185399 117185399 single base substitution G A intron_variant MELA-AU X 117185412 117185412 single base substitution G A intron_variant MELA-AU X 117185432 117185432 single base substitution A T intron_variant MELA-AU X 117185501 117185501 single base substitution C T intron_variant MELA-AU X 117185587 117185587 single base substitution G A intron_variant MELA-AU X 117185673 117185673 single base substitution C T intron_variant MELA-AU X 117185717 117185717 single base substitution C T intron_variant MELA-AU X 117185748 117185748 single base substitution G T intron_variant MELA-AU X 117185800 117185800 single base substitution A G intron_variant MELA-AU X 117185905 117185905 single base substitution G A intron_variant MELA-AU X 117186092 117186092 single base substitution G A intron_variant MELA-AU X 117186170 117186170 single base substitution G A intron_variant MELA-AU X 117186178 117186178 single base substitution C T intron_variant MELA-AU X 117186223 117186223 single base substitution C T intron_variant MELA-AU X 117186551 117186551 single base substitution G A intron_variant MELA-AU X 117186581 117186581 single base substitution G A intron_variant MELA-AU X 117186607 117186607 single base substitution G A intron_variant MELA-AU X 117186870 117186870 single base substitution G A intron_variant MELA-AU X 117187513 117187513 single base substitution T G intron_variant MELA-AU X 117187626 117187626 single base substitution G A intron_variant MELA-AU X 117188057 117188057 single base substitution A T intron_variant MELA-AU X 117188061 117188061 single base substitution G A intron_variant MELA-AU X 117188062 117188062 single base substitution G A intron_variant MELA-AU X 117188786 117188786 single base substitution G A intron_variant MELA-AU X 117189304 117189304 single base substitution C T intron_variant MELA-AU X 117189554 117189554 single base substitution G A intron_variant MELA-AU X 117189567 117189567 single base substitution T C intron_variant MELA-AU X 117189594 117189594 single base substitution G A intron_variant MELA-AU X 117189657 117189657 single base substitution G A intron_variant MELA-AU X 117189847 117189847 single base substitution C T intron_variant MELA-AU X 117189879 117189879 single base substitution G A intron_variant MELA-AU X 117189898 117189898 single base substitution G A intron_variant MELA-AU X 117189915 117189915 single base substitution G A intron_variant MELA-AU X 117190033 117190033 single base substitution A T intron_variant MELA-AU X 117190158 117190158 single base substitution G A intron_variant MELA-AU X 117190477 117190477 single base substitution C T intron_variant MELA-AU X 117190484 117190484 single base substitution G A intron_variant MELA-AU X 117190611 117190611 single base substitution T G intron_variant MELA-AU X 117190818 117190818 single base substitution G A intron_variant MELA-AU X 117191327 117191327 single base substitution G A intron_variant MELA-AU X 117191559 117191560 multiple base substitution (>=2bp and <=200bp) GG AA intron_variant MELA-AU X 117191563 117191563 single base substitution C T intron_variant MELA-AU X 117191576 117191576 single base substitution G A intron_variant MELA-AU X 117191580 117191580 single base substitution G A intron_variant MELA-AU X 117191671 117191671 single base substitution C T intron_variant MELA-AU X 117191692 117191692 single base substitution G A intron_variant MELA-AU X 117191772 117191772 single base substitution G A intron_variant MELA-AU X 117191776 117191776 single base substitution G A intron_variant MELA-AU X 117191788 117191788 single base substitution C T intron_variant MELA-AU X 117191816 117191816 single base substitution G A intron_variant MELA-AU X 117192157 117192157 single base substitution C T intron_variant MELA-AU X 117192381 117192381 single base substitution C T intron_variant MELA-AU X 117192544 117192544 single base substitution G A intron_variant MELA-AU X 117192589 117192589 single base substitution C T intron_variant MELA-AU X 117192705 117192705 single base substitution G A intron_variant MELA-AU X 117193045 117193045 single base substitution C T intron_variant MELA-AU X 117193127 117193127 single base substitution C T intron_variant MELA-AU X 117193245 117193245 single base substitution C T intron_variant MELA-AU X 117193483 117193483 single base substitution G A intron_variant MELA-AU X 117193553 117193553 single base substitution T C intron_variant MELA-AU X 117193598 117193598 single base substitution T A intron_variant MELA-AU X 117193661 117193661 single base substitution T G intron_variant MELA-AU X 117193685 117193685 single base substitution C T intron_variant MELA-AU X 117194041 117194041 single base substitution C T intron_variant MELA-AU X 117194080 117194080 single base substitution T A intron_variant MELA-AU X 117194168 117194168 single base substitution T A intron_variant MELA-AU X 117194346 117194346 single base substitution C T intron_variant MELA-AU X 117194453 117194453 single base substitution G A intron_variant MELA-AU X 117194716 117194716 single base substitution G A intron_variant MELA-AU X 117194782 117194782 single base substitution G A intron_variant MELA-AU X 117195012 117195012 single base substitution G A intron_variant MELA-AU X 117195196 117195196 single base substitution C T intron_variant MELA-AU X 117195427 117195427 single base substitution G A intron_variant MELA-AU X 117195713 117195713 single base substitution T A intron_variant MELA-AU X 117195720 117195720 single base substitution C T intron_variant MELA-AU X 117195768 117195768 single base substitution G A intron_variant MELA-AU X 117195830 117195830 single base substitution G A intron_variant MELA-AU X 117195930 117195930 single base substitution C T intron_variant MELA-AU X 117196006 117196006 single base substitution C T intron_variant MELA-AU X 117196164 117196164 single base substitution G A intron_variant MELA-AU X 117196256 117196256 single base substitution T C intron_variant MELA-AU X 117196321 117196321 single base substitution C T intron_variant MELA-AU X 117196383 117196383 single base substitution C T intron_variant MELA-AU X 117196399 117196399 single base substitution C T intron_variant MELA-AU X 117196444 117196444 single base substitution C T intron_variant MELA-AU X 117196557 117196557 single base substitution C T intron_variant MELA-AU X 117196649 117196649 single base substitution A T intron_variant MELA-AU X 117196661 117196661 single base substitution A T intron_variant MELA-AU X 117196691 117196691 single base substitution G A intron_variant MELA-AU X 117196702 117196702 single base substitution C T intron_variant MELA-AU X 117196760 117196760 single base substitution G A intron_variant MELA-AU X 117197272 117197272 single base substitution C T intron_variant MELA-AU X 117197451 117197451 single base substitution G T intron_variant MELA-AU X 117197591 117197591 single base substitution A C intron_variant MELA-AU X 117197753 117197753 single base substitution A C intron_variant MELA-AU X 117198052 117198052 single base substitution C T intron_variant MELA-AU X 117198077 117198077 single base substitution C T intron_variant MELA-AU X 117198198 117198198 single base substitution C T intron_variant MELA-AU X 117198328 117198328 single base substitution G A intron_variant MELA-AU X 117198345 117198345 single base substitution C T intron_variant MELA-AU X 117198355 117198355 single base substitution C T intron_variant MELA-AU X 117198709 117198709 single base substitution G A intron_variant MELA-AU X 117199215 117199215 single base substitution G A intron_variant MELA-AU X 117199273 117199273 single base substitution G A intron_variant MELA-AU X 117199384 117199384 single base substitution C T intron_variant MELA-AU X 117199471 117199471 single base substitution T C intron_variant MELA-AU X 117199472 117199472 single base substitution G A intron_variant MELA-AU X 117199544 117199544 single base substitution G A intron_variant MELA-AU X 117199879 117199879 single base substitution C T intron_variant MELA-AU X 117199897 117199897 single base substitution C T intron_variant MELA-AU X 117199942 117199942 single base substitution A T intron_variant MELA-AU X 117200007 117200008 multiple base substitution (>=2bp and <=200bp) GG AA intron_variant MELA-AU X 117200227 117200227 single base substitution G A intron_variant MELA-AU X 117200632 117200632 single base substitution C T intron_variant MELA-AU X 117200787 117200788 multiple base substitution (>=2bp and <=200bp) AA TC intron_variant MELA-AU X 117201209 117201209 single base substitution G A intron_variant MELA-AU X 117201551 117201551 single base substitution C T intron_variant MELA-AU X 117201559 117201559 single base substitution C T intron_variant MELA-AU X 117201824 117201824 single base substitution A T intron_variant MELA-AU X 117202089 117202089 single base substitution C T intron_variant MELA-AU X 117202141 117202141 single base substitution C T intron_variant MELA-AU X 117202234 117202234 single base substitution G A intron_variant MELA-AU X 117202260 117202260 single base substitution C T intron_variant MELA-AU X 117202273 117202273 single base substitution C A intron_variant MELA-AU X 117202411 117202411 single base substitution G A intron_variant MELA-AU X 117202505 117202505 single base substitution C T intron_variant MELA-AU X 117202542 117202542 single base substitution C T intron_variant MELA-AU X 117202604 117202604 single base substitution G A intron_variant MELA-AU X 117202826 117202826 single base substitution C T intron_variant MELA-AU X 117202853 117202853 single base substitution G A intron_variant MELA-AU X 117202919 117202920 multiple base substitution (>=2bp and <=200bp) GG AT intron_variant MELA-AU X 117203534 117203534 single base substitution C T intron_variant MELA-AU X 117203830 117203830 single base substitution C T intron_variant MELA-AU X 117203893 117203893 single base substitution C T intron_variant MELA-AU X 117204527 117204527 single base substitution C T intron_variant MELA-AU X 117204725 117204725 single base substitution A C intron_variant MELA-AU X 117205031 117205031 single base substitution C T intron_variant MELA-AU X 117205447 117205447 single base substitution G A intron_variant MELA-AU X 117205462 117205462 single base substitution G A intron_variant MELA-AU X 117206630 117206630 single base substitution G A intron_variant MELA-AU X 117206639 117206639 single base substitution G A intron_variant MELA-AU X 117207138 117207138 single base substitution C T intron_variant MELA-AU X 117207159 117207159 single base substitution C T intron_variant MELA-AU X 117207222 117207222 single base substitution G A intron_variant MELA-AU X 117207254 117207254 single base substitution G A intron_variant MELA-AU X 117207295 117207295 single base substitution G A intron_variant MELA-AU X 117207350 117207350 single base substitution C T intron_variant MELA-AU X 117207454 117207454 single base substitution G A intron_variant MELA-AU X 117207472 117207472 single base substitution C T intron_variant MELA-AU X 117207539 117207539 single base substitution C T intron_variant MELA-AU X 117207659 117207659 single base substitution G A intron_variant MELA-AU X 117207744 117207744 single base substitution C T intron_variant MELA-AU X 117207865 117207865 single base substitution G A intron_variant MELA-AU X 117207871 117207871 single base substitution G A intron_variant MELA-AU X 117207923 117207923 single base substitution G A intron_variant MELA-AU X 117208024 117208024 single base substitution C T intron_variant MELA-AU X 117208073 117208073 single base substitution G A intron_variant MELA-AU X 117208075 117208075 single base substitution A T intron_variant MELA-AU X 117208105 117208105 single base substitution C T intron_variant MELA-AU X 117208209 117208209 single base substitution C T intron_variant MELA-AU X 117208324 117208324 single base substitution C T intron_variant MELA-AU X 117208354 117208354 single base substitution C T intron_variant MELA-AU X 117208456 117208456 single base substitution C T intron_variant MELA-AU X 117208707 117208707 single base substitution C T intron_variant MELA-AU X 117208895 117208895 single base substitution G A intron_variant MELA-AU X 117208926 117208926 single base substitution C T intron_variant MELA-AU X 117208932 117208932 single base substitution G A intron_variant MELA-AU X 117209269 117209269 single base substitution G A intron_variant MELA-AU X 117209320 117209320 single base substitution G A intron_variant MELA-AU X 117209468 117209468 single base substitution G A intron_variant MELA-AU X 117209508 117209508 single base substitution G A intron_variant MELA-AU X 117209583 117209583 single base substitution A T intron_variant MELA-AU X 117209793 117209793 single base substitution G A intron_variant MELA-AU X 117209874 117209874 single base substitution G A intron_variant MELA-AU X 117209885 117209885 single base substitution G A intron_variant MELA-AU X 117209988 117209988 single base substitution C T intron_variant MELA-AU X 117210153 117210153 single base substitution C T intron_variant MELA-AU X 117210321 117210321 single base substitution A G intron_variant MELA-AU X 117210394 117210394 single base substitution C T intron_variant MELA-AU X 117210446 117210446 single base substitution G A intron_variant MELA-AU X 117210794 117210794 single base substitution C T intron_variant MELA-AU X 117210838 117210838 single base substitution C T intron_variant MELA-AU X 117210884 117210884 single base substitution C T intron_variant MELA-AU X 117210898 117210898 single base substitution C T intron_variant MELA-AU X 117210907 117210907 single base substitution C T intron_variant MELA-AU X 117210929 117210929 single base substitution C T intron_variant MELA-AU X 117211402 117211402 single base substitution G A intron_variant MELA-AU X 117211692 117211692 single base substitution G A intron_variant MELA-AU X 117211753 117211753 single base substitution C T intron_variant MELA-AU X 117211850 117211850 single base substitution G A intron_variant MELA-AU X 117211924 117211924 single base substitution C T intron_variant MELA-AU X 117212145 117212145 single base substitution C T intron_variant MELA-AU X 117212255 117212255 single base substitution C T intron_variant MELA-AU X 117212341 117212341 single base substitution C T intron_variant MELA-AU X 117212353 117212353 single base substitution A G intron_variant MELA-AU X 117212545 117212545 single base substitution A G intron_variant MELA-AU X 117212564 117212564 single base substitution C T intron_variant MELA-AU X 117213103 117213103 single base substitution G A intron_variant MELA-AU X 117213112 117213112 single base substitution A T intron_variant MELA-AU X 117213143 117213143 single base substitution C T intron_variant MELA-AU X 117213144 117213144 single base substitution G A intron_variant MELA-AU X 117213153 117213153 single base substitution G A intron_variant MELA-AU X 117213274 117213274 single base substitution G T intron_variant MELA-AU X 117213381 117213381 single base substitution G A intron_variant MELA-AU X 117213556 117213556 single base substitution A G intron_variant MELA-AU X 117213620 117213620 single base substitution G A intron_variant MELA-AU X 117213640 117213640 single base substitution G A intron_variant MELA-AU X 117213792 117213792 single base substitution G A intron_variant MELA-AU X 117213805 117213805 single base substitution G T intron_variant MELA-AU X 117214150 117214150 single base substitution G A intron_variant MELA-AU X 117214389 117214389 single base substitution G A intron_variant MELA-AU X 117214469 117214469 single base substitution G A intron_variant MELA-AU X 117214549 117214549 single base substitution C T intron_variant MELA-AU X 117214603 117214603 single base substitution G A intron_variant MELA-AU X 117214626 117214626 single base substitution G A intron_variant MELA-AU X 117214853 117214853 single base substitution G A intron_variant MELA-AU X 117214916 117214916 single base substitution C T intron_variant MELA-AU X 117215076 117215076 single base substitution G A intron_variant MELA-AU X 117215152 117215152 single base substitution C T intron_variant MELA-AU X 117215549 117215549 single base substitution C T intron_variant MELA-AU X 117215803 117215803 single base substitution C T intron_variant MELA-AU X 117215992 117215992 single base substitution T C intron_variant MELA-AU X 117216070 117216070 single base substitution C T intron_variant MELA-AU X 117216075 117216075 single base substitution C T intron_variant MELA-AU X 117216311 117216311 single base substitution C T intron_variant MELA-AU X 117216424 117216424 single base substitution C T intron_variant MELA-AU X 117216696 117216696 single base substitution G C intron_variant MELA-AU X 117216705 117216705 single base substitution C T intron_variant MELA-AU X 117216759 117216759 single base substitution T G intron_variant MELA-AU X 117216867 117216867 single base substitution C T intron_variant MELA-AU X 117216953 117216953 single base substitution C A intron_variant MELA-AU X 117216953 117216953 single base substitution C T intron_variant MELA-AU X 117217181 117217181 single base substitution C T intron_variant MELA-AU X 117217480 117217480 single base substitution G A intron_variant MELA-AU X 117217541 117217541 single base substitution G A intron_variant MELA-AU X 117217633 117217633 single base substitution G A intron_variant MELA-AU X 117217703 117217703 single base substitution A T intron_variant MELA-AU X 117217987 117217987 single base substitution G A intron_variant MELA-AU X 117218030 117218030 single base substitution C T intron_variant MELA-AU X 117218104 117218104 single base substitution G A intron_variant MELA-AU X 117218190 117218190 single base substitution G A intron_variant MELA-AU X 117218204 117218204 single base substitution G A intron_variant MELA-AU X 117218422 117218422 single base substitution G A intron_variant MELA-AU X 117218536 117218536 single base substitution C T intron_variant MELA-AU X 117218748 117218748 single base substitution G A intron_variant MELA-AU X 117219113 117219113 single base substitution G A intron_variant MELA-AU X 117219309 117219309 single base substitution G A intron_variant MELA-AU X 117219531 117219531 single base substitution C T intron_variant MELA-AU X 117219658 117219658 single base substitution C T intron_variant MELA-AU X 117219682 117219682 single base substitution G A intron_variant MELA-AU X 117219728 117219728 single base substitution C T intron_variant MELA-AU X 117219900 117219900 single base substitution G A intron_variant MELA-AU X 117219960 117219960 single base substitution G A intron_variant MELA-AU X 117220156 117220156 single base substitution C T intron_variant MELA-AU X 117220414 117220415 multiple base substitution (>=2bp and <=200bp) GT AA intron_variant MELA-AU X 117220538 117220538 single base substitution C T intron_variant MELA-AU X 117220597 117220597 single base substitution C T intron_variant MELA-AU X 117220704 117220705 multiple base substitution (>=2bp and <=200bp) CC TT intron_variant MELA-AU X 117220757 117220757 single base substitution T A intron_variant MELA-AU X 117220945 117220945 single base substitution A G intron_variant MELA-AU X 117221008 117221008 single base substitution G A intron_variant MELA-AU X 117221249 117221249 single base substitution G A intron_variant MELA-AU X 117221256 117221256 single base substitution C T intron_variant MELA-AU X 117221280 117221280 single base substitution C T intron_variant MELA-AU X 117221291 117221291 single base substitution C T intron_variant MELA-AU X 117221367 117221367 single base substitution C T intron_variant MELA-AU X 117221438 117221438 single base substitution A C intron_variant MELA-AU X 117221508 117221508 single base substitution T A intron_variant MELA-AU X 117221552 117221552 single base substitution G A intron_variant MELA-AU X 117221641 117221641 single base substitution A C intron_variant MELA-AU X 117221650 117221650 single base substitution C T intron_variant MELA-AU X 117221710 117221710 single base substitution C T intron_variant MELA-AU X 117221744 117221744 single base substitution C T intron_variant MELA-AU X 117221756 117221756 single base substitution C T intron_variant MELA-AU X 117221779 117221779 single base substitution G A intron_variant MELA-AU X 117222011 117222011 single base substitution C T intron_variant MELA-AU X 117222028 117222028 single base substitution G A intron_variant MELA-AU X 117222385 117222385 single base substitution G A intron_variant MELA-AU X 117222405 117222405 single base substitution C T intron_variant MELA-AU X 117222624 117222624 single base substitution G A intron_variant MELA-AU X 117222625 117222625 single base substitution G A intron_variant MELA-AU X 117222641 117222641 single base substitution C T intron_variant MELA-AU X 117222736 117222736 single base substitution C T intron_variant MELA-AU X 117222737 117222737 single base substitution C T intron_variant MELA-AU X 117222747 117222747 single base substitution C T intron_variant MELA-AU X 117222752 117222752 single base substitution A T intron_variant MELA-AU X 117222815 117222815 single base substitution G A intron_variant MELA-AU X 117222914 117222914 single base substitution G A intron_variant MELA-AU X 117222954 117222954 single base substitution A G intron_variant MELA-AU X 117223024 117223024 single base substitution G A intron_variant MELA-AU X 117223094 117223094 single base substitution C T intron_variant MELA-AU X 117223107 117223107 single base substitution G A intron_variant MELA-AU X 117223130 117223130 single base substitution C T intron_variant MELA-AU X 117223375 117223375 single base substitution C A intron_variant MELA-AU X 117223705 117223705 single base substitution C T intron_variant MELA-AU X 117223828 117223828 single base substitution G A intron_variant MELA-AU X 117223927 117223927 single base substitution C T intron_variant MELA-AU X 117224239 117224239 single base substitution G A intron_variant MELA-AU X 117224259 117224259 single base substitution C T intron_variant MELA-AU X 117224275 117224275 single base substitution G A intron_variant MELA-AU X 117224431 117224431 single base substitution G A intron_variant MELA-AU X 117225209 117225209 single base substitution G A intron_variant MELA-AU X 117225264 117225264 single base substitution G A intron_variant MELA-AU X 117225281 117225281 single base substitution G A intron_variant MELA-AU X 117225305 117225305 single base substitution T A intron_variant MELA-AU X 117225463 117225463 single base substitution A T intron_variant MELA-AU X 117225495 117225495 single base substitution G A intron_variant MELA-AU X 117225496 117225496 single base substitution G A intron_variant MELA-AU X 117225508 117225508 single base substitution G A intron_variant MELA-AU X 117225516 117225516 single base substitution A T intron_variant MELA-AU X 117225556 117225556 single base substitution A G intron_variant MELA-AU X 117225589 117225589 single base substitution G A intron_variant MELA-AU X 117225716 117225716 single base substitution C T intron_variant MELA-AU X 117225717 117225717 single base substitution G A intron_variant MELA-AU X 117225783 117225783 single base substitution G A intron_variant MELA-AU X 117225862 117225862 single base substitution G A intron_variant MELA-AU X 117226027 117226027 single base substitution G A intron_variant MELA-AU X 117226088 117226088 single base substitution T C intron_variant MELA-AU X 117226112 117226112 single base substitution C T intron_variant MELA-AU X 117226294 117226294 single base substitution G A intron_variant MELA-AU X 117226323 117226323 single base substitution C T intron_variant MELA-AU X 117226361 117226361 single base substitution G T intron_variant MELA-AU X 117226362 117226362 single base substitution G A intron_variant MELA-AU X 117226637 117226637 single base substitution T C intron_variant MELA-AU X 117226813 117226813 single base substitution G A intron_variant MELA-AU X 117227024 117227024 single base substitution C T intron_variant MELA-AU X 117227210 117227210 single base substitution C T intron_variant MELA-AU X 117227260 117227260 single base substitution T A intron_variant MELA-AU X 117227343 117227343 single base substitution C T intron_variant MELA-AU X 117227377 117227377 single base substitution G A intron_variant MELA-AU X 117227636 117227636 single base substitution C T intron_variant MELA-AU X 117227814 117227814 single base substitution G A intron_variant MELA-AU X 117227835 117227835 single base substitution T C intron_variant MELA-AU X 117227878 117227878 single base substitution G A intron_variant MELA-AU X 117227946 117227946 single base substitution G A intron_variant MELA-AU X 117228054 117228054 single base substitution G A intron_variant MELA-AU X 117228060 117228060 single base substitution C T intron_variant MELA-AU X 117228061 117228061 single base substitution G A intron_variant MELA-AU X 117228118 117228118 single base substitution G A intron_variant MELA-AU X 117228237 117228238 multiple base substitution (>=2bp and <=200bp) GG AA intron_variant MELA-AU X 117228245 117228245 single base substitution G A intron_variant MELA-AU X 117228265 117228265 single base substitution G A intron_variant MELA-AU X 117228301 117228301 single base substitution G A intron_variant MELA-AU X 117228354 117228354 single base substitution G A intron_variant MELA-AU X 117228481 117228481 single base substitution C T intron_variant MELA-AU X 117229689 117229689 single base substitution G A intron_variant MELA-AU X 117229695 117229695 single base substitution G A intron_variant MELA-AU X 117229903 117229903 single base substitution G A intron_variant MELA-AU X 117229940 117229940 single base substitution G A intron_variant MELA-AU X 117230057 117230057 single base substitution G A intron_variant MELA-AU X 117230085 117230085 single base substitution A T intron_variant MELA-AU X 117230204 117230204 single base substitution G A intron_variant MELA-AU X 117230288 117230288 single base substitution C T intron_variant MELA-AU X 117230351 117230351 single base substitution G A intron_variant MELA-AU X 117230381 117230381 single base substitution G A intron_variant MELA-AU X 117230436 117230436 single base substitution G A intron_variant MELA-AU X 117230481 117230481 single base substitution C T intron_variant MELA-AU X 117230542 117230542 single base substitution G A intron_variant MELA-AU X 117231407 117231407 single base substitution G A intron_variant MELA-AU X 117231532 117231532 single base substitution G A intron_variant MELA-AU X 117231770 117231770 single base substitution G A intron_variant MELA-AU X 117231800 117231800 single base substitution C T intron_variant MELA-AU X 117231986 117231986 single base substitution G A intron_variant MELA-AU X 117232195 117232195 single base substitution G A intron_variant MELA-AU X 117232440 117232440 single base substitution G A intron_variant MELA-AU X 117233175 117233175 single base substitution G A intron_variant MELA-AU X 117233217 117233217 single base substitution A C intron_variant MELA-AU X 117233305 117233305 single base substitution C T intron_variant MELA-AU X 117233337 117233337 single base substitution A T intron_variant MELA-AU X 117233344 117233344 single base substitution C T intron_variant MELA-AU X 117233456 117233456 single base substitution G A intron_variant MELA-AU X 117233571 117233571 single base substitution G A intron_variant MELA-AU X 117233623 117233623 single base substitution T A intron_variant MELA-AU X 117233782 117233782 single base substitution G A intron_variant MELA-AU X 117233802 117233802 single base substitution G A intron_variant MELA-AU X 117233826 117233826 single base substitution G A intron_variant MELA-AU X 117233878 117233878 single base substitution G A intron_variant MELA-AU X 117233886 117233886 single base substitution G A intron_variant MELA-AU X 117233898 117233898 single base substitution G A intron_variant MELA-AU X 117233906 117233906 single base substitution G A intron_variant MELA-AU X 117233915 117233915 single base substitution G A intron_variant MELA-AU X 117234022 117234022 single base substitution G A intron_variant MELA-AU X 117234050 117234050 single base substitution C T intron_variant MELA-AU X 117234133 117234133 single base substitution C T intron_variant MELA-AU X 117234358 117234358 single base substitution T C intron_variant MELA-AU X 117234588 117234588 single base substitution A C intron_variant MELA-AU X 117234602 117234602 single base substitution G T intron_variant MELA-AU X 117234739 117234739 single base substitution C T intron_variant MELA-AU X 117234801 117234801 single base substitution C T intron_variant MELA-AU X 117234947 117234947 single base substitution G A intron_variant MELA-AU X 117235008 117235008 single base substitution T G intron_variant MELA-AU X 117235036 117235036 single base substitution G A intron_variant MELA-AU X 117235045 117235045 single base substitution G A intron_variant MELA-AU X 117235128 117235128 single base substitution C T intron_variant MELA-AU X 117235208 117235208 single base substitution C T intron_variant MELA-AU X 117235329 117235329 single base substitution C T intron_variant MELA-AU X 117235520 117235520 single base substitution C T intron_variant MELA-AU X 117235627 117235627 single base substitution C T intron_variant MELA-AU X 117235681 117235681 single base substitution G A intron_variant MELA-AU X 117235728 117235728 single base substitution C T intron_variant MELA-AU X 117235736 117235736 single base substitution T C intron_variant MELA-AU X 117235845 117235845 single base substitution G A intron_variant MELA-AU X 117235901 117235901 single base substitution C T intron_variant MELA-AU X 117236100 117236100 single base substitution T C intron_variant MELA-AU X 117236129 117236129 single base substitution A T intron_variant MELA-AU X 117236263 117236263 single base substitution C T intron_variant MELA-AU X 117236449 117236449 single base substitution G A intron_variant MELA-AU X 117237303 117237303 single base substitution G A intron_variant MELA-AU X 117237422 117237422 single base substitution A T intron_variant MELA-AU X 117237476 117237476 single base substitution G A intron_variant MELA-AU X 117237675 117237675 single base substitution G A intron_variant MELA-AU X 117237790 117237790 single base substitution C T intron_variant MELA-AU X 117237850 117237850 single base substitution C T intron_variant MELA-AU X 117238178 117238178 single base substitution C T intron_variant MELA-AU X 117238294 117238294 single base substitution A T intron_variant MELA-AU X 117238376 117238376 single base substitution A G intron_variant MELA-AU X 117238443 117238443 single base substitution G A intron_variant MELA-AU X 117238473 117238473 single base substitution C T intron_variant MELA-AU X 117238562 117238563 multiple base substitution (>=2bp and <=200bp) CC TT intron_variant MELA-AU X 117238797 117238797 single base substitution G A intron_variant MELA-AU X 117238985 117238985 single base substitution C T intron_variant MELA-AU X 117239275 117239275 single base substitution G A intron_variant MELA-AU X 117239280 117239280 single base substitution G A intron_variant MELA-AU X 117239374 117239374 single base substitution T C intron_variant MELA-AU X 117239402 117239402 single base substitution C A intron_variant MELA-AU X 117239521 117239521 single base substitution G A intron_variant MELA-AU X 117239646 117239646 single base substitution C T intron_variant MELA-AU X 117240082 117240082 single base substitution G A intron_variant MELA-AU X 117240403 117240403 single base substitution C T intron_variant MELA-AU X 117240575 117240575 single base substitution C T intron_variant MELA-AU X 117240613 117240613 single base substitution C T intron_variant MELA-AU X 117240618 117240618 single base substitution C T intron_variant MELA-AU X 117240755 117240755 single base substitution C T intron_variant MELA-AU X 117240861 117240861 single base substitution T G intron_variant MELA-AU X 117240981 117240981 single base substitution G A intron_variant MELA-AU X 117241208 117241208 single base substitution T A intron_variant MELA-AU X 117241352 117241352 single base substitution G A intron_variant MELA-AU X 117241599 117241599 single base substitution G A intron_variant MELA-AU X 117241654 117241654 single base substitution G A intron_variant MELA-AU X 117241673 117241673 single base substitution G A intron_variant MELA-AU X 117241691 117241691 single base substitution C T intron_variant MELA-AU X 117241814 117241814 single base substitution G A intron_variant MELA-AU X 117242037 117242037 single base substitution C T intron_variant MELA-AU X 117242155 117242155 single base substitution C T intron_variant MELA-AU X 117242222 117242222 single base substitution C T intron_variant MELA-AU X 117242424 117242424 single base substitution C T intron_variant MELA-AU X 117242872 117242872 single base substitution G A intron_variant MELA-AU X 117242924 117242924 single base substitution C T intron_variant MELA-AU X 117242992 117242992 single base substitution T C intron_variant MELA-AU X 117243494 117243494 single base substitution G A intron_variant MELA-AU X 117243801 117243801 single base substitution C T intron_variant MELA-AU X 117243843 117243843 single base substitution G A intron_variant MELA-AU X 117243951 117243951 single base substitution A G intron_variant MELA-AU X 117243958 117243958 single base substitution G A intron_variant MELA-AU X 117244168 117244168 single base substitution T A intron_variant MELA-AU X 117244169 117244169 single base substitution C T intron_variant MELA-AU X 117244405 117244405 single base substitution G A intron_variant MELA-AU X 117244597 117244597 single base substitution C T intron_variant MELA-AU X 117245088 117245088 single base substitution G A intron_variant MELA-AU X 117245183 117245183 single base substitution G A intron_variant MELA-AU X 117245515 117245515 single base substitution G A intron_variant MELA-AU X 117245540 117245540 single base substitution G A intron_variant MELA-AU X 117245635 117245635 single base substitution C T intron_variant MELA-AU X 117246582 117246582 single base substitution A T intron_variant MELA-AU X 117246609 117246609 single base substitution G A intron_variant MELA-AU X 117246617 117246617 single base substitution C T intron_variant MELA-AU X 117246678 117246678 single base substitution G A intron_variant MELA-AU X 117246896 117246896 single base substitution C T intron_variant MELA-AU X 117246927 117246927 single base substitution C T intron_variant MELA-AU X 117246961 117246961 single base substitution G A intron_variant MELA-AU X 117247288 117247288 single base substitution C T intron_variant MELA-AU X 117247455 117247455 single base substitution T C intron_variant MELA-AU X 117247662 117247662 single base substitution T A intron_variant MELA-AU X 117248055 117248055 single base substitution T A intron_variant MELA-AU X 117248240 117248240 single base substitution C T intron_variant MELA-AU X 117248282 117248282 single base substitution C T intron_variant MELA-AU X 117248790 117248790 single base substitution A G intron_variant MELA-AU X 117249701 117249701 single base substitution G A intron_variant MELA-AU X 117250266 117250266 single base substitution G A intron_variant MELA-AU X 117251141 117251141 single base substitution G A intron_variant MELA-AU X 117251141 117251141 single base substitution G A upstream_gene_variant MELA-AU X 117251146 117251146 single base substitution C T intron_variant MELA-AU X 117251146 117251146 single base substitution C T upstream_gene_variant MELA-AU X 117251790 117251790 single base substitution C T upstream_gene_variant MELA-AU X 117251824 117251824 single base substitution C T upstream_gene_variant MELA-AU X 117252509 117252509 single base substitution G A upstream_gene_variant MELA-AU X 117252911 117252911 single base substitution G A upstream_gene_variant MELA-AU X 117252923 117252923 single base substitution T C upstream_gene_variant MELA-AU X 117252981 117252981 single base substitution G A upstream_gene_variant MELA-AU X 117253106 117253106 single base substitution C A upstream_gene_variant MELA-AU X 117253505 117253505 single base substitution G A upstream_gene_variant MELA-AU X 117253587 117253587 single base substitution C T upstream_gene_variant MELA-AU X 117253630 117253630 single base substitution T A upstream_gene_variant MELA-AU X 117253742 117253742 single base substitution C T upstream_gene_variant MELA-AU X 117253902 117253902 single base substitution G A upstream_gene_variant MELA-AU X 117254365 117254365 single base substitution C T upstream_gene_variant MELA-AU X 117254471 117254471 single base substitution C T upstream_gene_variant MELA-AU X 117254834 117254834 single base substitution C T upstream_gene_variant MELA-AU X 117255043 117255043 single base substitution C T upstream_gene_variant MELA-AU X 117255204 117255204 single base substitution G A upstream_gene_variant MELA-AU X 117255282 117255282 single base substitution G A upstream_gene_variant MELA-AU X 117255292 117255292 single base substitution G A upstream_gene_variant MELA-AU X 117255337 117255337 single base substitution C T upstream_gene_variant MELA-AU X 117255592 117255592 single base substitution C T upstream_gene_variant MELA-AU X 117255935 117255935 single base substitution C T upstream_gene_variant MELA-AU X 117256066 117256066 single base substitution A G upstream_gene_variant MELA-AU X 117256182 117256182 single base substitution G A upstream_gene_variant MELA-AU X 117256263 117256263 single base substitution G A upstream_gene_variant ORCA-IN X 117042697 117042697 single base substitution G T intron_variant ORCA-IN X 117093031 117093031 single base substitution G C intron_variant ORCA-IN X 117098406 117098406 single base substitution G C intron_variant ORCA-IN X 117106783 117106783 single base substitution C T 5_prime_UTR_variant ORCA-IN X 117106783 117106783 single base substitution C T intron_variant ORCA-IN X 117106783 117106783 single base substitution C T synonymous_variant L3L 9G>A ORCA-IN X 117115426 117115426 single base substitution T A intron_variant ORCA-IN X 117142137 117142137 single base substitution A G intron_variant ORCA-IN X 117157938 117157938 single base substitution T G intron_variant ORCA-IN X 117175778 117175778 single base substitution G A intron_variant ORCA-IN X 117195287 117195287 single base substitution G A intron_variant ORCA-IN X 117203762 117203762 single base substitution T C intron_variant ORCA-IN X 117210549 117210549 single base substitution T A intron_variant ORCA-IN X 117217746 117217746 single base substitution T G intron_variant OV-AU X 117029167 117029167 single base substitution A T downstream_gene_variant OV-AU X 117032909 117032909 single base substitution G A missense_variant P593S 1777C>T OV-AU X 117032909 117032909 single base substitution G A missense_variant P602S 1804C>T OV-AU X 117032909 117032909 single base substitution G A missense_variant P628S 1882C>T OV-AU X 117032909 117032909 single base substitution G A missense_variant P644S 1930C>T OV-AU X 117032909 117032909 single base substitution G A missense_variant P647S 1939C>T OV-AU X 117042529 117042529 single base substitution C T intron_variant OV-AU X 117044377 117044377 single base substitution A C intron_variant OV-AU X 117044522 117044522 single base substitution A T intron_variant OV-AU X 117047534 117047534 single base substitution G C intron_variant OV-AU X 117048594 117048594 single base substitution C A intron_variant OV-AU X 117049520 117049520 single base substitution T C downstream_gene_variant OV-AU X 117049520 117049520 single base substitution T C intron_variant OV-AU X 117049993 117049993 single base substitution T A downstream_gene_variant OV-AU X 117049993 117049993 single base substitution T A intron_variant OV-AU X 117053805 117053805 single base substitution C A downstream_gene_variant OV-AU X 117053805 117053805 single base substitution C A intron_variant OV-AU X 117053806 117053806 single base substitution A G downstream_gene_variant OV-AU X 117053806 117053806 single base substitution A G intron_variant OV-AU X 117054960 117054960 single base substitution C A intron_variant OV-AU X 117059723 117059723 single base substitution C T intron_variant OV-AU X 117061779 117061779 single base substitution G C intron_variant OV-AU X 117068182 117068182 single base substitution G A intron_variant OV-AU X 117071591 117071591 single base substitution T C intron_variant OV-AU X 117075992 117075992 single base substitution G T intron_variant OV-AU X 117078154 117078154 single base substitution C G intron_variant OV-AU X 117080393 117080393 single base substitution C A 5_prime_UTR_variant OV-AU X 117080393 117080393 single base substitution C A intron_variant OV-AU X 117080394 117080394 single base substitution A T 5_prime_UTR_variant OV-AU X 117080394 117080394 single base substitution A T intron_variant OV-AU X 117080397 117080397 single base substitution A G 5_prime_UTR_variant OV-AU X 117080397 117080397 single base substitution A G intron_variant OV-AU X 117081719 117081719 single base substitution G C 5_prime_UTR_variant OV-AU X 117081719 117081719 single base substitution G C intron_variant OV-AU X 117084980 117084980 single base substitution T C intron_variant OV-AU X 117084980 117084980 single base substitution T C upstream_gene_variant OV-AU X 117086940 117086940 single base substitution C G intron_variant OV-AU X 117090281 117090281 single base substitution C A intron_variant OV-AU X 117094410 117094410 single base substitution C T intron_variant OV-AU X 117101472 117101472 single base substitution A G intron_variant OV-AU X 117102451 117102451 single base substitution A G intron_variant OV-AU X 117103015 117103015 single base substitution T A intron_variant OV-AU X 117107782 117107782 single base substitution A C intron_variant OV-AU X 117107782 117107782 single base substitution A C upstream_gene_variant OV-AU X 117109145 117109145 single base substitution A C intron_variant OV-AU X 117109145 117109145 single base substitution A C upstream_gene_variant OV-AU X 117112564 117112564 single base substitution G A intron_variant OV-AU X 117112564 117112564 single base substitution G A upstream_gene_variant OV-AU X 117117537 117117537 single base substitution G C intron_variant OV-AU X 117123854 117123854 single base substitution T A intron_variant OV-AU X 117123854 117123854 single base substitution T A upstream_gene_variant OV-AU X 117132148 117132148 single base substitution G T intron_variant OV-AU X 117134375 117134375 single base substitution A G intron_variant OV-AU X 117134737 117134737 single base substitution T C intron_variant OV-AU X 117140022 117140022 single base substitution A T intron_variant OV-AU X 117148597 117148597 single base substitution C T intron_variant OV-AU X 117152828 117152828 single base substitution G A intron_variant OV-AU X 117155164 117155164 single base substitution C T intron_variant OV-AU X 117156045 117156045 single base substitution G T intron_variant OV-AU X 117157574 117157574 single base substitution C A intron_variant OV-AU X 117159159 117159159 single base substitution G T intron_variant OV-AU X 117162334 117162334 single base substitution G C intron_variant OV-AU X 117163205 117163205 single base substitution C T intron_variant OV-AU X 117163205 117163205 single base substitution C T upstream_gene_variant OV-AU X 117163312 117163312 single base substitution A G intron_variant OV-AU X 117163312 117163312 single base substitution A G upstream_gene_variant OV-AU X 117171692 117171692 single base substitution A T intron_variant OV-AU X 117171786 117171786 single base substitution T A intron_variant OV-AU X 117172465 117172465 single base substitution G C intron_variant OV-AU X 117173297 117173297 single base substitution C A intron_variant OV-AU X 117173460 117173460 single base substitution C G intron_variant OV-AU X 117177024 117177024 single base substitution A C intron_variant OV-AU X 117192635 117192635 single base substitution G T intron_variant OV-AU X 117194459 117194459 single base substitution G C intron_variant OV-AU X 117197511 117197511 single base substitution G A intron_variant OV-AU X 117207069 117207069 single base substitution A C intron_variant OV-AU X 117208357 117208357 single base substitution G C intron_variant OV-AU X 117211194 117211194 single base substitution A G intron_variant OV-AU X 117215282 117215282 single base substitution A G intron_variant OV-AU X 117216395 117216395 single base substitution T A intron_variant OV-AU X 117218501 117218501 single base substitution A G intron_variant OV-AU X 117219337 117219337 single base substitution G A intron_variant OV-AU X 117219393 117219393 single base substitution G T intron_variant OV-AU X 117226693 117226693 single base substitution G T intron_variant OV-AU X 117226893 117226893 single base substitution T A intron_variant OV-AU X 117230081 117230081 single base substitution C G intron_variant OV-AU X 117232498 117232498 single base substitution G A intron_variant OV-AU X 117236037 117236037 single base substitution C A intron_variant OV-AU X 117236068 117236068 single base substitution A T intron_variant OV-AU X 117237072 117237072 single base substitution G T intron_variant OV-AU X 117237950 117237950 single base substitution G A intron_variant OV-AU X 117243307 117243307 single base substitution G A intron_variant OV-AU X 117243598 117243598 single base substitution C A intron_variant OV-AU X 117250598 117250598 single base substitution C T 5_prime_UTR_variant OV-AU X 117250598 117250598 single base substitution C T intron_variant OV-AU X 117250778 117250778 single base substitution G T 5_prime_UTR_variant OV-AU X 117250778 117250778 single base substitution G T intron_variant OV-AU X 117250778 117250778 single base substitution G T upstream_gene_variant PACA-AU X 117030703 117030703 single base substitution G A downstream_gene_variant PACA-AU X 117034561 117034561 single base substitution T C intron_variant PACA-AU X 117034655 117034655 single base substitution C T intron_variant PACA-AU X 117035421 117035421 single base substitution A C intron_variant PACA-AU X 117037461 117037461 single base substitution C A intron_variant PACA-AU X 117044052 117044052 single base substitution A G missense_variant L142S 425T>C PACA-AU X 117044052 117044052 single base substitution A G missense_variant L151S 452T>C PACA-AU X 117044052 117044052 single base substitution A G missense_variant L177S 530T>C PACA-AU X 117044052 117044052 single base substitution A G missense_variant L193S 578T>C PACA-AU X 117044052 117044052 single base substitution A G missense_variant L196S 587T>C PACA-AU X 117054132 117054132 insertion of <=200bp - A downstream_gene_variant PACA-AU X 117054132 117054132 insertion of <=200bp - A intron_variant PACA-AU X 117058812 117058817 deletion of <=200bp TTTAAT - intron_variant PACA-AU X 117059325 117059325 deletion of <=200bp A - intron_variant PACA-AU X 117061907 117061907 single base substitution G T intron_variant PACA-AU X 117064399 117064399 single base substitution A G intron_variant PACA-AU X 117069714 117069714 single base substitution C T intron_variant PACA-AU X 117080082 117080082 single base substitution G T 5_prime_UTR_variant PACA-AU X 117080082 117080082 single base substitution G T intron_variant PACA-AU X 117080393 117080393 single base substitution C A 5_prime_UTR_variant PACA-AU X 117080393 117080393 single base substitution C A intron_variant PACA-AU X 117081493 117081493 single base substitution A G 5_prime_UTR_premature_start_codon_gain_variant PACA-AU X 117081493 117081493 single base substitution A G intron_variant PACA-AU X 117081937 117081937 single base substitution T C intron_variant PACA-AU X 117081937 117081937 single base substitution T C upstream_gene_variant PACA-AU X 117082093 117082093 single base substitution C G intron_variant PACA-AU X 117082093 117082093 single base substitution C G upstream_gene_variant PACA-AU X 117093280 117093280 single base substitution T C intron_variant PACA-AU X 117096590 117096590 single base substitution G A intron_variant PACA-AU X 117102528 117102528 single base substitution A T intron_variant PACA-AU X 117103744 117103744 insertion of <=200bp - A intron_variant PACA-AU X 117109105 117109105 single base substitution G A intron_variant PACA-AU X 117109105 117109105 single base substitution G A upstream_gene_variant PACA-AU X 117113791 117113791 deletion of <=200bp A - intron_variant PACA-AU X 117114709 117114709 single base substitution T C intron_variant PACA-AU X 117116146 117116146 single base substitution A G intron_variant PACA-AU X 117117477 117117477 single base substitution C T 5_prime_UTR_variant PACA-AU X 117117477 117117477 single base substitution C T intron_variant PACA-AU X 117117477 117117477 single base substitution C T missense_variant D25N 73G>A PACA-AU X 117121964 117121964 deletion of <=200bp T - intron_variant PACA-AU X 117121964 117121964 deletion of <=200bp T - upstream_gene_variant PACA-AU X 117123422 117123422 single base substitution T C intron_variant PACA-AU X 117123422 117123422 single base substitution T C upstream_gene_variant PACA-AU X 117125357 117125357 single base substitution G C intron_variant PACA-AU X 117130665 117130665 single base substitution C A intron_variant PACA-AU X 117136559 117136559 insertion of <=200bp - AAAT intron_variant PACA-AU X 117138020 117138020 single base substitution T G intron_variant PACA-AU X 117141645 117141645 single base substitution C T intron_variant PACA-AU X 117142532 117142532 single base substitution T A intron_variant PACA-AU X 117145475 117145475 single base substitution G A intron_variant PACA-AU X 117149023 117149023 single base substitution C A intron_variant PACA-AU X 117158548 117158548 single base substitution A G intron_variant PACA-AU X 117162767 117162767 single base substitution C G intron_variant PACA-AU X 117162767 117162767 single base substitution C G upstream_gene_variant PACA-AU X 117163791 117163791 single base substitution C T intron_variant PACA-AU X 117163791 117163791 single base substitution C T upstream_gene_variant PACA-AU X 117170326 117170326 single base substitution C A intron_variant PACA-AU X 117170521 117170521 single base substitution G T intron_variant PACA-AU X 117172590 117172590 single base substitution A T intron_variant PACA-AU X 117173878 117173878 insertion of <=200bp - G intron_variant PACA-AU X 117174591 117174591 single base substitution G T intron_variant PACA-AU X 117175932 117175932 single base substitution C T intron_variant PACA-AU X 117177190 117177190 single base substitution G A intron_variant PACA-AU X 117178148 117178148 single base substitution A C intron_variant PACA-AU X 117187517 117187517 single base substitution T A intron_variant PACA-AU X 117188661 117188661 single base substitution T C intron_variant PACA-AU X 117196604 117196604 single base substitution T A intron_variant PACA-AU X 117199060 117199060 single base substitution A C intron_variant PACA-AU X 117201285 117201285 single base substitution G T intron_variant PACA-AU X 117207070 117207070 single base substitution C A intron_variant PACA-AU X 117208697 117208697 single base substitution C A intron_variant PACA-AU X 117211545 117211545 single base substitution C A intron_variant PACA-AU X 117213092 117213092 single base substitution A G intron_variant PACA-AU X 117213874 117213874 single base substitution T C intron_variant PACA-AU X 117214181 117214181 single base substitution G T intron_variant PACA-AU X 117214513 117214513 single base substitution C G intron_variant PACA-AU X 117217802 117217802 single base substitution G A intron_variant PACA-AU X 117218322 117218322 single base substitution A C intron_variant PACA-AU X 117222742 117222742 single base substitution T G intron_variant PACA-AU X 117223959 117223959 single base substitution G A intron_variant PACA-AU X 117225444 117225444 single base substitution A T intron_variant PACA-AU X 117227922 117227922 single base substitution C T intron_variant PACA-AU X 117228485 117228485 single base substitution T A intron_variant PACA-AU X 117230294 117230294 single base substitution G A intron_variant PACA-AU X 117230491 117230491 single base substitution G A intron_variant PACA-AU X 117232138 117232138 single base substitution A G intron_variant PACA-AU X 117240488 117240488 single base substitution G A intron_variant PACA-AU X 117243664 117243664 single base substitution C T intron_variant PACA-AU X 117244565 117244565 single base substitution C T intron_variant PACA-AU X 117245870 117245870 single base substitution G T intron_variant PACA-AU X 117247540 117247540 single base substitution T A intron_variant PACA-AU X 117249127 117249127 single base substitution G A intron_variant PACA-AU X 117251494 117251494 single base substitution G C upstream_gene_variant PACA-AU X 117251559 117251559 single base substitution G C upstream_gene_variant PACA-AU X 117252770 117252770 single base substitution G A upstream_gene_variant PACA-CA X 117026971 117026971 insertion of <=200bp - A downstream_gene_variant PACA-CA X 117028461 117028461 deletion of <=200bp G - downstream_gene_variant PACA-CA X 117029118 117029118 single base substitution A G downstream_gene_variant PACA-CA X 117029690 117029690 single base substitution T C downstream_gene_variant PACA-CA X 117033092 117033092 single base substitution C T missense_variant A532T 1594G>A PACA-CA X 117033092 117033092 single base substitution C T missense_variant A541T 1621G>A PACA-CA X 117033092 117033092 single base substitution C T missense_variant A567T 1699G>A PACA-CA X 117033092 117033092 single base substitution C T missense_variant A583T 1747G>A PACA-CA X 117033092 117033092 single base substitution C T missense_variant A586T 1756G>A PACA-CA X 117034310 117034310 single base substitution T C intron_variant PACA-CA X 117037120 117037120 insertion of <=200bp - AG intron_variant PACA-CA X 117037179 117037179 single base substitution G A intron_variant PACA-CA X 117038149 117038149 single base substitution T G intron_variant PACA-CA X 117043744 117043744 single base substitution C T missense_variant V245M 733G>A PACA-CA X 117043744 117043744 single base substitution C T missense_variant V254M 760G>A PACA-CA X 117043744 117043744 single base substitution C T missense_variant V280M 838G>A PACA-CA X 117043744 117043744 single base substitution C T missense_variant V296M 886G>A PACA-CA X 117043744 117043744 single base substitution C T missense_variant V299M 895G>A PACA-CA X 117053624 117053624 single base substitution C T downstream_gene_variant PACA-CA X 117053624 117053624 single base substitution C T missense_variant G102S 304G>A PACA-CA X 117053624 117053624 single base substitution C T missense_variant G128S 382G>A PACA-CA X 117053624 117053624 single base substitution C T missense_variant G144S 430G>A PACA-CA X 117053624 117053624 single base substitution C T missense_variant G147S 439G>A PACA-CA X 117053624 117053624 single base substitution C T missense_variant G93S 277G>A PACA-CA X 117059065 117059065 single base substitution G C intron_variant PACA-CA X 117061925 117061925 single base substitution T A intron_variant PACA-CA X 117068468 117068468 single base substitution A G intron_variant PACA-CA X 117070319 117070319 single base substitution T C intron_variant PACA-CA X 117071296 117071296 single base substitution C T intron_variant PACA-CA X 117073022 117073022 single base substitution T C intron_variant PACA-CA X 117074553 117074553 single base substitution C A intron_variant PACA-CA X 117077255 117077255 single base substitution C T intron_variant PACA-CA X 117078860 117078860 single base substitution C G intron_variant PACA-CA X 117088197 117088205 deletion of <=200bp CCTTCATCT - intron_variant PACA-CA X 117088211 117088217 deletion of <=200bp AATTTAT - intron_variant PACA-CA X 117090262 117090262 single base substitution G A intron_variant PACA-CA X 117093051 117093051 deletion of <=200bp A - intron_variant PACA-CA X 117101104 117101104 single base substitution A G intron_variant PACA-CA X 117105858 117105858 single base substitution G A intron_variant PACA-CA X 117105874 117105874 insertion of <=200bp - A intron_variant PACA-CA X 117106957 117106981 deletion of <=200bp CTGTAAGGTACCTCCTTAAATTCTT - 5_prime_UTR_variant PACA-CA X 117106957 117106981 deletion of <=200bp CTGTAAGGTACCTCCTTAAATTCTT - intron_variant PACA-CA X 117110008 117110008 single base substitution C G intron_variant PACA-CA X 117110008 117110008 single base substitution C G upstream_gene_variant PACA-CA X 117113175 117113175 single base substitution G A intron_variant PACA-CA X 117118948 117118948 single base substitution T C intron_variant PACA-CA X 117119666 117119666 single base substitution C A intron_variant PACA-CA X 117119666 117119666 single base substitution C A upstream_gene_variant PACA-CA X 117119776 117119776 insertion of <=200bp - T intron_variant PACA-CA X 117119776 117119776 insertion of <=200bp - T upstream_gene_variant PACA-CA X 117119817 117119817 insertion of <=200bp - T intron_variant PACA-CA X 117119817 117119817 insertion of <=200bp - T upstream_gene_variant PACA-CA X 117122768 117122768 single base substitution T C intron_variant PACA-CA X 117122768 117122768 single base substitution T C upstream_gene_variant PACA-CA X 117124675 117124675 insertion of <=200bp - AA intron_variant PACA-CA X 117124699 117124699 single base substitution G A intron_variant PACA-CA X 117126331 117126331 single base substitution C T intron_variant PACA-CA X 117126964 117126964 single base substitution C T intron_variant PACA-CA X 117128279 117128279 single base substitution T C intron_variant PACA-CA X 117133077 117133077 insertion of <=200bp - A intron_variant PACA-CA X 117136582 117136582 single base substitution T A intron_variant PACA-CA X 117137247 117137247 single base substitution A C intron_variant PACA-CA X 117140363 117140363 single base substitution G T intron_variant PACA-CA X 117140364 117140364 single base substitution G T intron_variant PACA-CA X 117142458 117142458 single base substitution C T intron_variant PACA-CA X 117147945 117147945 single base substitution G A intron_variant PACA-CA X 117148636 117148636 single base substitution G A intron_variant PACA-CA X 117158209 117158209 single base substitution C G intron_variant PACA-CA X 117161498 117161498 insertion of <=200bp - T intron_variant PACA-CA X 117165731 117165731 single base substitution C G intron_variant PACA-CA X 117165731 117165731 single base substitution C G upstream_gene_variant PACA-CA X 117165780 117165780 single base substitution C T intron_variant PACA-CA X 117165780 117165780 single base substitution C T upstream_gene_variant PACA-CA X 117165906 117165906 single base substitution C T intron_variant PACA-CA X 117165906 117165906 single base substitution C T upstream_gene_variant PACA-CA X 117165962 117165962 single base substitution G A intron_variant PACA-CA X 117165962 117165962 single base substitution G A upstream_gene_variant PACA-CA X 117166030 117166030 single base substitution C T intron_variant PACA-CA X 117166030 117166030 single base substitution C T upstream_gene_variant PACA-CA X 117166070 117166070 single base substitution C A intron_variant PACA-CA X 117166070 117166070 single base substitution C A upstream_gene_variant PACA-CA X 117166077 117166077 single base substitution C A intron_variant PACA-CA X 117166077 117166077 single base substitution C A upstream_gene_variant PACA-CA X 117166306 117166306 single base substitution C G intron_variant PACA-CA X 117166306 117166306 single base substitution C G upstream_gene_variant PACA-CA X 117167223 117167223 single base substitution C G intron_variant PACA-CA X 117167223 117167223 single base substitution C G upstream_gene_variant PACA-CA X 117169503 117169503 single base substitution C T intron_variant PACA-CA X 117170296 117170296 single base substitution A G intron_variant PACA-CA X 117170296 117170296 single base substitution A T intron_variant PACA-CA X 117181109 117181109 single base substitution T A intron_variant PACA-CA X 117185611 117185611 single base substitution T G intron_variant PACA-CA X 117186673 117186673 single base substitution G A intron_variant PACA-CA X 117187450 117187450 single base substitution T C intron_variant PACA-CA X 117187763 117187763 single base substitution A T intron_variant PACA-CA X 117189579 117189579 single base substitution T A intron_variant PACA-CA X 117191514 117191514 single base substitution T G intron_variant PACA-CA X 117192192 117192192 single base substitution A T intron_variant PACA-CA X 117192444 117192444 single base substitution G C intron_variant PACA-CA X 117193823 117193823 single base substitution T G intron_variant PACA-CA X 117194760 117194760 single base substitution T G intron_variant PACA-CA X 117195845 117195845 deletion of <=200bp A - intron_variant PACA-CA X 117196470 117196470 single base substitution T C intron_variant PACA-CA X 117200293 117200293 single base substitution T A intron_variant PACA-CA X 117201868 117201868 single base substitution T C intron_variant PACA-CA X 117203597 117203597 single base substitution A C intron_variant PACA-CA X 117207069 117207069 single base substitution A C intron_variant PACA-CA X 117207268 117207268 single base substitution A G intron_variant PACA-CA X 117207931 117207931 single base substitution G C intron_variant PACA-CA X 117217631 117217631 single base substitution G T intron_variant PACA-CA X 117218749 117218749 single base substitution G A intron_variant PACA-CA X 117220622 117220622 single base substitution G A intron_variant PACA-CA X 117222247 117222247 single base substitution G A intron_variant PACA-CA X 117223571 117223571 single base substitution G A intron_variant PACA-CA X 117229180 117229180 insertion of <=200bp - A intron_variant PACA-CA X 117230299 117230299 single base substitution G T intron_variant PACA-CA X 117233491 117233491 single base substitution G A intron_variant PACA-CA X 117235175 117235175 single base substitution A G intron_variant PACA-CA X 117236908 117236908 single base substitution C T intron_variant PACA-CA X 117236940 117236940 single base substitution G A intron_variant PACA-CA X 117238762 117238762 insertion of <=200bp - A intron_variant PACA-CA X 117241377 117241377 single base substitution A T intron_variant PACA-CA X 117244159 117244159 single base substitution C A intron_variant PACA-CA X 117245632 117245632 single base substitution G T intron_variant PACA-CA X 117245724 117245724 single base substitution A G intron_variant PACA-CA X 117247644 117247644 single base substitution C T intron_variant PACA-CA X 117248858 117248858 deletion of <=200bp T - intron_variant PACA-CA X 117249294 117249294 single base substitution C T intron_variant PACA-CA X 117251689 117251689 deletion of <=200bp A - upstream_gene_variant PAEN-AU X 117057480 117057480 single base substitution C T intron_variant PAEN-AU X 117099582 117099582 single base substitution C A intron_variant PAEN-AU X 117099584 117099584 single base substitution A T intron_variant PAEN-AU X 117102775 117102775 single base substitution A C intron_variant PAEN-AU X 117128462 117128462 single base substitution T C intron_variant PAEN-AU X 117165852 117165852 single base substitution G A intron_variant PAEN-AU X 117165852 117165852 single base substitution G A upstream_gene_variant PAEN-AU X 117167097 117167097 single base substitution G C intron_variant PAEN-AU X 117167097 117167097 single base substitution G C upstream_gene_variant PAEN-AU X 117167232 117167232 deletion of <=200bp C - intron_variant PAEN-AU X 117167232 117167232 deletion of <=200bp C - upstream_gene_variant PAEN-AU X 117167686 117167686 single base substitution C A intron_variant PAEN-AU X 117222634 117222634 single base substitution C A intron_variant PAEN-IT X 117099030 117099030 single base substitution T C intron_variant PAEN-IT X 117113352 117113352 single base substitution C T intron_variant PAEN-IT X 117127356 117127356 single base substitution T C intron_variant PAEN-IT X 117127621 117127621 single base substitution G A intron_variant PAEN-IT X 117151224 117151224 single base substitution T A intron_variant PAEN-IT X 117224187 117224187 single base substitution C A intron_variant PAEN-IT X 117241756 117241756 single base substitution C G intron_variant PBCA-DE X 117032162 117032162 single base substitution T C 3_prime_UTR_variant PBCA-DE X 117032162 117032162 single base substitution T C downstream_gene_variant PBCA-DE X 117037118 117037118 single base substitution C T intron_variant PBCA-DE X 117037122 117037122 single base substitution G C intron_variant PBCA-DE X 117039469 117039470 deletion of <=200bp CA - intron_variant PBCA-DE X 117042192 117042192 insertion of <=200bp - CA intron_variant PBCA-DE X 117046067 117046067 single base substitution G C intron_variant PBCA-DE X 117049179 117049179 insertion of <=200bp - C intron_variant PBCA-DE X 117069319 117069319 single base substitution A C intron_variant PBCA-DE X 117073665 117073665 deletion of <=200bp T - intron_variant PBCA-DE X 117078326 117078326 single base substitution C T intron_variant PBCA-DE X 117081024 117081024 single base substitution A T 5_prime_UTR_variant PBCA-DE X 117081024 117081024 single base substitution A T intron_variant PBCA-DE X 117084079 117084079 insertion of <=200bp - A intron_variant PBCA-DE X 117084079 117084079 insertion of <=200bp - A upstream_gene_variant PBCA-DE X 117092190 117092190 single base substitution C T intron_variant PBCA-DE X 117096299 117096299 single base substitution T A intron_variant PBCA-DE X 117098156 117098156 deletion of <=200bp A - intron_variant PBCA-DE X 117099180 117099180 single base substitution G T intron_variant PBCA-DE X 117102168 117102168 single base substitution C T intron_variant PBCA-DE X 117107121 117107121 insertion of <=200bp - T 5_prime_UTR_variant PBCA-DE X 117107121 117107121 insertion of <=200bp - T intron_variant PBCA-DE X 117109141 117109142 deletion of <=200bp AC - intron_variant PBCA-DE X 117109141 117109142 deletion of <=200bp AC - upstream_gene_variant PBCA-DE X 117109927 117109927 single base substitution T A intron_variant PBCA-DE X 117109927 117109927 single base substitution T A upstream_gene_variant PBCA-DE X 117113280 117113280 single base substitution A T intron_variant PBCA-DE X 117113292 117113292 single base substitution G A intron_variant PBCA-DE X 117113296 117113296 single base substitution T C intron_variant PBCA-DE X 117133872 117133872 single base substitution C A intron_variant PBCA-DE X 117135903 117135903 single base substitution C A intron_variant PBCA-DE X 117137146 117137146 single base substitution T A intron_variant PBCA-DE X 117146718 117146718 deletion of <=200bp T - intron_variant PBCA-DE X 117155204 117155204 deletion of <=200bp T - intron_variant PBCA-DE X 117161464 117161464 insertion of <=200bp - A intron_variant PBCA-DE X 117162693 117162693 single base substitution A T intron_variant PBCA-DE X 117162693 117162693 single base substitution A T upstream_gene_variant PBCA-DE X 117165629 117165629 insertion of <=200bp - TCT intron_variant PBCA-DE X 117165629 117165629 insertion of <=200bp - TCT upstream_gene_variant PBCA-DE X 117173503 117173503 single base substitution T A intron_variant PBCA-DE X 117174817 117174817 single base substitution C T intron_variant PBCA-DE X 117177347 117177347 single base substitution C T intron_variant PBCA-DE X 117184238 117184238 single base substitution G A intron_variant PBCA-DE X 117185612 117185613 deletion of <=200bp AC - intron_variant PBCA-DE X 117191595 117191595 single base substitution A T intron_variant PBCA-DE X 117192324 117192324 single base substitution C G intron_variant PBCA-DE X 117197001 117197001 single base substitution G T intron_variant PBCA-DE X 117197002 117197002 single base substitution G T intron_variant PBCA-DE X 117199766 117199766 single base substitution G A intron_variant PBCA-DE X 117200917 117200917 single base substitution T A intron_variant PBCA-DE X 117202697 117202697 single base substitution C A intron_variant PBCA-DE X 117205469 117205469 deletion of <=200bp A - intron_variant PBCA-DE X 117206332 117206332 insertion of <=200bp - T intron_variant PBCA-DE X 117215904 117215905 deletion of <=200bp TG - intron_variant PBCA-DE X 117243794 117243794 insertion of <=200bp - A intron_variant PBCA-DE X 117244665 117244665 single base substitution T G intron_variant PBCA-DE X 117246184 117246184 single base substitution A T intron_variant PRAD-CA X 117032775 117032775 single base substitution T G 3_prime_UTR_variant PRAD-CA X 117064253 117064253 single base substitution A C intron_variant PRAD-CA X 117096842 117096842 single base substitution C T intron_variant PRAD-CA X 117181109 117181109 single base substitution T A intron_variant PRAD-CA X 117195427 117195427 single base substitution G A intron_variant PRAD-CA X 117199908 117199908 single base substitution G C intron_variant PRAD-CA X 117208084 117208084 single base substitution C A intron_variant PRAD-CA X 117208988 117208988 single base substitution T C intron_variant PRAD-CA X 117223567 117223567 single base substitution G A intron_variant PRAD-UK X 117036888 117036888 single base substitution C T intron_variant PRAD-UK X 117041935 117041935 single base substitution A C intron_variant PRAD-UK X 117047133 117047133 single base substitution C A intron_variant PRAD-UK X 117057486 117057486 single base substitution A T intron_variant PRAD-UK X 117063233 117063233 single base substitution A G intron_variant PRAD-UK X 117091901 117091901 insertion of <=200bp - A intron_variant PRAD-UK X 117108050 117108050 single base substitution A G intron_variant PRAD-UK X 117108050 117108050 single base substitution A G upstream_gene_variant PRAD-UK X 117156967 117156967 single base substitution T A intron_variant PRAD-UK X 117181109 117181109 single base substitution T A intron_variant PRAD-UK X 117191599 117191599 single base substitution C T intron_variant PRAD-UK X 117205203 117205203 single base substitution G A intron_variant PRAD-UK X 117221943 117221943 single base substitution T G intron_variant PRAD-UK X 117247547 117247547 single base substitution G A intron_variant PRAD-US X 117033092 117033092 single base substitution C T missense_variant A532T 1594G>A PRAD-US X 117033092 117033092 single base substitution C T missense_variant A541T 1621G>A PRAD-US X 117033092 117033092 single base substitution C T missense_variant A567T 1699G>A PRAD-US X 117033092 117033092 single base substitution C T missense_variant A583T 1747G>A PRAD-US X 117033092 117033092 single base substitution C T missense_variant A586T 1756G>A PRAD-US X 117053579 117053579 single base substitution G C downstream_gene_variant PRAD-US X 117053579 117053579 single base substitution G C missense_variant L108V 322C>G PRAD-US X 117053579 117053579 single base substitution G C missense_variant L117V 349C>G PRAD-US X 117053579 117053579 single base substitution G C missense_variant L143V 427C>G PRAD-US X 117053579 117053579 single base substitution G C missense_variant L159V 475C>G PRAD-US X 117053579 117053579 single base substitution G C missense_variant L162V 484C>G READ-US X 117033197 117033197 single base substitution T C missense_variant T497A 1489A>G READ-US X 117033197 117033197 single base substitution T C missense_variant T506A 1516A>G READ-US X 117033197 117033197 single base substitution T C missense_variant T532A 1594A>G READ-US X 117033197 117033197 single base substitution T C missense_variant T548A 1642A>G READ-US X 117033197 117033197 single base substitution T C missense_variant T551A 1651A>G READ-US X 117043321 117043321 single base substitution T G missense_variant S386R 1156A>C READ-US X 117043321 117043321 single base substitution T G missense_variant S395R 1183A>C READ-US X 117043321 117043321 single base substitution T G missense_variant S421R 1261A>C READ-US X 117043321 117043321 single base substitution T G missense_variant S437R 1309A>C READ-US X 117043321 117043321 single base substitution T G missense_variant S440R 1318A>C READ-US X 117043745 117043745 single base substitution G A synonymous_variant Y244Y 732C>T READ-US X 117043745 117043745 single base substitution G A synonymous_variant Y253Y 759C>T READ-US X 117043745 117043745 single base substitution G A synonymous_variant Y279Y 837C>T READ-US X 117043745 117043745 single base substitution G A synonymous_variant Y295Y 885C>T READ-US X 117043745 117043745 single base substitution G A synonymous_variant Y298Y 894C>T READ-US X 117054317 117054317 single base substitution C T missense_variant R35Q 104G>A READ-US X 117054317 117054317 single base substitution C T missense_variant R44Q 131G>A READ-US X 117054317 117054317 single base substitution C T missense_variant R70Q 209G>A READ-US X 117054317 117054317 single base substitution C T missense_variant R86Q 257G>A READ-US X 117054317 117054317 single base substitution C T missense_variant R89Q 266G>A RECA-EU X 117074697 117074697 single base substitution G T intron_variant RECA-EU X 117095384 117095384 single base substitution G T intron_variant RECA-EU X 117095385 117095385 single base substitution T G intron_variant RECA-EU X 117098244 117098244 single base substitution G A intron_variant RECA-EU X 117100923 117100923 single base substitution G A intron_variant RECA-EU X 117105542 117105542 single base substitution A T intron_variant RECA-EU X 117111829 117111829 single base substitution A T intron_variant RECA-EU X 117111829 117111829 single base substitution A T upstream_gene_variant RECA-EU X 117115222 117115222 single base substitution C A intron_variant RECA-EU X 117121496 117121496 single base substitution A C intron_variant RECA-EU X 117121496 117121496 single base substitution A C upstream_gene_variant RECA-EU X 117126370 117126370 single base substitution T A intron_variant RECA-EU X 117132990 117132990 single base substitution C G intron_variant RECA-EU X 117134685 117134685 single base substitution C A intron_variant RECA-EU X 117135230 117135230 single base substitution A T intron_variant RECA-EU X 117144987 117144987 single base substitution G C intron_variant RECA-EU X 117161341 117161341 single base substitution C T intron_variant RECA-EU X 117186943 117186943 single base substitution A G intron_variant RECA-EU X 117199519 117199519 single base substitution G T intron_variant RECA-EU X 117212386 117212386 single base substitution C A intron_variant RECA-EU X 117230605 117230605 single base substitution C A intron_variant RECA-EU X 117242594 117242594 single base substitution C A intron_variant RECA-EU X 117249622 117249622 single base substitution A T intron_variant RECA-EU X 117253605 117253605 single base substitution G T upstream_gene_variant SKCA-BR X 117027510 117027510 single base substitution C T downstream_gene_variant SKCA-BR X 117027563 117027563 single base substitution C T downstream_gene_variant SKCA-BR X 117027667 117027667 single base substitution G A downstream_gene_variant SKCA-BR X 117027876 117027876 single base substitution C T downstream_gene_variant SKCA-BR X 117028373 117028373 single base substitution G A downstream_gene_variant SKCA-BR X 117030417 117030417 single base substitution A C downstream_gene_variant SKCA-BR X 117030920 117030920 single base substitution G A downstream_gene_variant SKCA-BR X 117030979 117030979 single base substitution C T downstream_gene_variant SKCA-BR X 117031184 117031184 single base substitution C T downstream_gene_variant SKCA-BR X 117031403 117031403 single base substitution G T downstream_gene_variant SKCA-BR X 117031475 117031475 single base substitution G A downstream_gene_variant SKCA-BR X 117031639 117031639 single base substitution C T downstream_gene_variant SKCA-BR X 117032244 117032244 single base substitution C T 3_prime_UTR_variant SKCA-BR X 117032244 117032244 single base substitution C T downstream_gene_variant SKCA-BR X 117033355 117033355 single base substitution C T missense_variant G444E 1331G>A SKCA-BR X 117033355 117033355 single base substitution C T missense_variant G453E 1358G>A SKCA-BR X 117033355 117033355 single base substitution C T missense_variant G479E 1436G>A SKCA-BR X 117033355 117033355 single base substitution C T missense_variant G495E 1484G>A SKCA-BR X 117033355 117033355 single base substitution C T missense_variant G498E 1493G>A SKCA-BR X 117033863 117033863 single base substitution C T intron_variant SKCA-BR X 117034107 117034107 single base substitution C T intron_variant SKCA-BR X 117034170 117034170 single base substitution A C intron_variant SKCA-BR X 117034632 117034632 single base substitution C T intron_variant SKCA-BR X 117034774 117034774 single base substitution A G intron_variant SKCA-BR X 117036864 117036864 single base substitution G A intron_variant SKCA-BR X 117038558 117038558 single base substitution T G intron_variant SKCA-BR X 117038647 117038647 single base substitution G A intron_variant SKCA-BR X 117038937 117038937 single base substitution G A intron_variant SKCA-BR X 117040143 117040143 single base substitution T A intron_variant SKCA-BR X 117042059 117042059 single base substitution T A intron_variant SKCA-BR X 117043367 117043367 single base substitution C T stop_gained W370* 1110G>A SKCA-BR X 117043367 117043367 single base substitution C T stop_gained W379* 1137G>A SKCA-BR X 117043367 117043367 single base substitution C T stop_gained W405* 1215G>A SKCA-BR X 117043367 117043367 single base substitution C T stop_gained W421* 1263G>A SKCA-BR X 117043367 117043367 single base substitution C T stop_gained W424* 1272G>A SKCA-BR X 117044638 117044638 single base substitution C T intron_variant SKCA-BR X 117046465 117046465 single base substitution G A intron_variant SKCA-BR X 117047486 117047486 single base substitution T G intron_variant SKCA-BR X 117048614 117048614 single base substitution G A intron_variant SKCA-BR X 117050563 117050563 single base substitution C T downstream_gene_variant SKCA-BR X 117050563 117050563 single base substitution C T intron_variant SKCA-BR X 117050907 117050907 single base substitution C T downstream_gene_variant SKCA-BR X 117050907 117050907 single base substitution C T intron_variant SKCA-BR X 117051099 117051099 single base substitution C T downstream_gene_variant SKCA-BR X 117051099 117051099 single base substitution C T intron_variant SKCA-BR X 117052808 117052808 single base substitution A T downstream_gene_variant SKCA-BR X 117052808 117052808 single base substitution A T intron_variant SKCA-BR X 117054103 117054103 single base substitution C T downstream_gene_variant SKCA-BR X 117054103 117054103 single base substitution C T intron_variant SKCA-BR X 117054309 117054309 single base substitution C T missense_variant G38R 112G>A SKCA-BR X 117054309 117054309 single base substitution C T missense_variant G47R 139G>A SKCA-BR X 117054309 117054309 single base substitution C T missense_variant G73R 217G>A SKCA-BR X 117054309 117054309 single base substitution C T missense_variant G89R 265G>A SKCA-BR X 117054309 117054309 single base substitution C T missense_variant G92R 274G>A SKCA-BR X 117054309 117054309 single base substitution C T synonymous_variant ?38 SKCA-BR X 117054660 117054660 single base substitution C T intron_variant SKCA-BR X 117054764 117054764 single base substitution G A intron_variant SKCA-BR X 117055840 117055840 single base substitution C T intron_variant SKCA-BR X 117056410 117056410 single base substitution C T intron_variant SKCA-BR X 117056582 117056582 single base substitution C T intron_variant SKCA-BR X 117057429 117057429 single base substitution G A intron_variant SKCA-BR X 117059054 117059054 single base substitution G A intron_variant SKCA-BR X 117059368 117059368 single base substitution A C intron_variant SKCA-BR X 117060048 117060048 single base substitution C T intron_variant SKCA-BR X 117060275 117060275 single base substitution C T intron_variant SKCA-BR X 117060406 117060406 single base substitution C T intron_variant SKCA-BR X 117060979 117060979 single base substitution C T intron_variant SKCA-BR X 117061820 117061820 single base substitution G A intron_variant SKCA-BR X 117062728 117062728 single base substitution C T intron_variant SKCA-BR X 117063587 117063587 single base substitution C T intron_variant SKCA-BR X 117064625 117064625 single base substitution G A intron_variant SKCA-BR X 117065000 117065000 single base substitution G A intron_variant SKCA-BR X 117065158 117065158 single base substitution G A intron_variant SKCA-BR X 117065626 117065626 single base substitution T C intron_variant SKCA-BR X 117066404 117066404 single base substitution C A intron_variant SKCA-BR X 117068154 117068154 single base substitution C T intron_variant SKCA-BR X 117070166 117070166 single base substitution T A intron_variant SKCA-BR X 117070270 117070270 single base substitution G A intron_variant SKCA-BR X 117070448 117070448 single base substitution T C intron_variant SKCA-BR X 117070742 117070742 single base substitution C T intron_variant SKCA-BR X 117070928 117070928 single base substitution G A intron_variant SKCA-BR X 117072744 117072744 single base substitution C T intron_variant SKCA-BR X 117072883 117072883 single base substitution C T intron_variant SKCA-BR X 117072983 117072983 single base substitution C T intron_variant SKCA-BR X 117074159 117074159 single base substitution G A intron_variant SKCA-BR X 117074169 117074169 single base substitution C T intron_variant SKCA-BR X 117075794 117075794 single base substitution C T intron_variant SKCA-BR X 117076707 117076707 single base substitution C T intron_variant SKCA-BR X 117076929 117076929 single base substitution G A intron_variant SKCA-BR X 117077068 117077068 single base substitution G A intron_variant SKCA-BR X 117077360 117077360 single base substitution C T intron_variant SKCA-BR X 117078206 117078206 single base substitution C T intron_variant SKCA-BR X 117078286 117078286 single base substitution G A intron_variant SKCA-BR X 117079130 117079130 single base substitution G A intron_variant SKCA-BR X 117079282 117079282 single base substitution C T intron_variant SKCA-BR X 117079484 117079484 single base substitution T C 5_prime_UTR_variant SKCA-BR X 117079484 117079484 single base substitution T C synonymous_variant E35E 105A>G SKCA-BR X 117079484 117079484 single base substitution T C synonymous_variant E51E 153A>G SKCA-BR X 117079484 117079484 single base substitution T C synonymous_variant E54E 162A>G SKCA-BR X 117079484 117079484 single base substitution T C synonymous_variant E9E 27A>G SKCA-BR X 117079641 117079641 single base substitution C A 5_prime_UTR_premature_start_codon_gain_variant SKCA-BR X 117079641 117079641 single base substitution C A intron_variant SKCA-BR X 117079696 117079696 single base substitution C T 5_prime_UTR_variant SKCA-BR X 117079696 117079696 single base substitution C T intron_variant SKCA-BR X 117080330 117080330 single base substitution G A 5_prime_UTR_variant SKCA-BR X 117080330 117080330 single base substitution G A intron_variant SKCA-BR X 117080347 117080347 single base substitution A G 5_prime_UTR_variant SKCA-BR X 117080347 117080347 single base substitution A G intron_variant SKCA-BR X 117082174 117082174 single base substitution G A intron_variant SKCA-BR X 117082174 117082174 single base substitution G A upstream_gene_variant SKCA-BR X 117082350 117082350 single base substitution C A intron_variant SKCA-BR X 117082350 117082350 single base substitution C A upstream_gene_variant SKCA-BR X 117082594 117082594 single base substitution G A intron_variant SKCA-BR X 117082594 117082594 single base substitution G A upstream_gene_variant SKCA-BR X 117082627 117082627 single base substitution C T intron_variant SKCA-BR X 117082627 117082627 single base substitution C T upstream_gene_variant SKCA-BR X 117082924 117082924 single base substitution G A intron_variant SKCA-BR X 117082924 117082924 single base substitution G A upstream_gene_variant SKCA-BR X 117083252 117083252 single base substitution G A intron_variant SKCA-BR X 117083252 117083252 single base substitution G A upstream_gene_variant SKCA-BR X 117083643 117083643 single base substitution C T intron_variant SKCA-BR X 117083643 117083643 single base substitution C T upstream_gene_variant SKCA-BR X 117084054 117084054 single base substitution C T intron_variant SKCA-BR X 117084054 117084054 single base substitution C T upstream_gene_variant SKCA-BR X 117084933 117084933 single base substitution A T intron_variant SKCA-BR X 117084933 117084933 single base substitution A T upstream_gene_variant SKCA-BR X 117087376 117087376 single base substitution G A intron_variant SKCA-BR X 117088100 117088100 single base substitution C T intron_variant SKCA-BR X 117088367 117088367 single base substitution A T intron_variant SKCA-BR X 117088384 117088384 single base substitution G A intron_variant SKCA-BR X 117088536 117088536 single base substitution C T intron_variant SKCA-BR X 117088564 117088564 single base substitution C T intron_variant SKCA-BR X 117089224 117089224 single base substitution C T intron_variant SKCA-BR X 117089732 117089732 single base substitution G A intron_variant SKCA-BR X 117090840 117090840 single base substitution C T intron_variant SKCA-BR X 117091342 117091342 single base substitution C T intron_variant SKCA-BR X 117092411 117092411 single base substitution G A intron_variant SKCA-BR X 117092887 117092887 single base substitution T A intron_variant SKCA-BR X 117093904 117093904 single base substitution C T intron_variant SKCA-BR X 117094960 117094960 single base substitution G A intron_variant SKCA-BR X 117095728 117095728 single base substitution G A intron_variant SKCA-BR X 117096652 117096652 single base substitution C T intron_variant SKCA-BR X 117096653 117096653 single base substitution C T intron_variant SKCA-BR X 117098779 117098779 single base substitution C T intron_variant SKCA-BR X 117098860 117098860 single base substitution T A intron_variant SKCA-BR X 117099694 117099694 single base substitution G A intron_variant SKCA-BR X 117100081 117100081 single base substitution C A intron_variant SKCA-BR X 117100769 117100769 single base substitution G A intron_variant SKCA-BR X 117101394 117101394 single base substitution C T intron_variant SKCA-BR X 117102991 117102991 single base substitution C T intron_variant SKCA-BR X 117103286 117103286 single base substitution C T intron_variant SKCA-BR X 117104360 117104360 single base substitution G A intron_variant SKCA-BR X 117104506 117104506 single base substitution C T intron_variant SKCA-BR X 117106622 117106622 single base substitution C T intron_variant SKCA-BR X 117106987 117106987 single base substitution C T 5_prime_UTR_variant SKCA-BR X 117106987 117106987 single base substitution C T intron_variant SKCA-BR X 117107406 117107406 single base substitution C T 5_prime_UTR_variant SKCA-BR X 117107406 117107406 single base substitution C T intron_variant SKCA-BR X 117107716 117107716 single base substitution G A intron_variant SKCA-BR X 117107716 117107716 single base substitution G A upstream_gene_variant SKCA-BR X 117110273 117110273 single base substitution A T intron_variant SKCA-BR X 117110273 117110273 single base substitution A T upstream_gene_variant SKCA-BR X 117111176 117111176 single base substitution G A intron_variant SKCA-BR X 117111176 117111176 single base substitution G A upstream_gene_variant SKCA-BR X 117113076 117113076 single base substitution A T intron_variant SKCA-BR X 117113927 117113927 single base substitution G A intron_variant SKCA-BR X 117114997 117114997 single base substitution G A intron_variant SKCA-BR X 117115136 117115136 single base substitution C T intron_variant SKCA-BR X 117115495 117115495 single base substitution C T intron_variant SKCA-BR X 117115521 117115521 single base substitution C T intron_variant SKCA-BR X 117117370 117117370 single base substitution G A intron_variant SKCA-BR X 117117381 117117381 single base substitution G A intron_variant SKCA-BR X 117122074 117122074 single base substitution C T intron_variant SKCA-BR X 117122074 117122074 single base substitution C T upstream_gene_variant SKCA-BR X 117122566 117122566 single base substitution G A intron_variant SKCA-BR X 117122566 117122566 single base substitution G A upstream_gene_variant SKCA-BR X 117122686 117122686 single base substitution C T intron_variant SKCA-BR X 117122686 117122686 single base substitution C T upstream_gene_variant SKCA-BR X 117124061 117124061 single base substitution C T intron_variant SKCA-BR X 117124061 117124061 single base substitution C T upstream_gene_variant SKCA-BR X 117124812 117124812 single base substitution G A intron_variant SKCA-BR X 117124935 117124935 single base substitution C T intron_variant SKCA-BR X 117125082 117125082 single base substitution G A intron_variant SKCA-BR X 117126231 117126231 single base substitution G A intron_variant SKCA-BR X 117127436 117127436 single base substitution C T intron_variant SKCA-BR X 117127833 117127833 single base substitution G T intron_variant SKCA-BR X 117129389 117129389 single base substitution G A intron_variant SKCA-BR X 117129670 117129670 single base substitution G A intron_variant SKCA-BR X 117130498 117130498 single base substitution G A intron_variant SKCA-BR X 117131715 117131715 single base substitution C T intron_variant SKCA-BR X 117132226 117132226 single base substitution G A intron_variant SKCA-BR X 117133349 117133349 single base substitution C T intron_variant SKCA-BR X 117133671 117133687 deletion of <=200bp AAAATAAATAAATAAAT - intron_variant SKCA-BR X 117134530 117134530 single base substitution G A intron_variant SKCA-BR X 117135441 117135441 single base substitution C T intron_variant SKCA-BR X 117135978 117135978 single base substitution C T intron_variant SKCA-BR X 117136666 117136666 single base substitution G A intron_variant SKCA-BR X 117136928 117136928 single base substitution C T intron_variant SKCA-BR X 117137750 117137750 single base substitution C T intron_variant SKCA-BR X 117138835 117138835 single base substitution G A intron_variant SKCA-BR X 117139261 117139261 single base substitution G A intron_variant SKCA-BR X 117139681 117139681 single base substitution C T intron_variant SKCA-BR X 117139682 117139682 single base substitution C T intron_variant SKCA-BR X 117140735 117140735 single base substitution G A intron_variant SKCA-BR X 117141663 117141663 single base substitution C T intron_variant SKCA-BR X 117141947 117141947 single base substitution G A intron_variant SKCA-BR X 117142196 117142196 single base substitution G T intron_variant SKCA-BR X 117142721 117142721 single base substitution C T intron_variant SKCA-BR X 117143393 117143393 single base substitution A T intron_variant SKCA-BR X 117143946 117143946 single base substitution G A intron_variant SKCA-BR X 117144267 117144267 single base substitution G A intron_variant SKCA-BR X 117145335 117145335 single base substitution T A intron_variant SKCA-BR X 117145524 117145524 single base substitution G A intron_variant SKCA-BR X 117146211 117146211 single base substitution T G intron_variant SKCA-BR X 117147146 117147146 single base substitution G A intron_variant SKCA-BR X 117147518 117147518 single base substitution G A intron_variant SKCA-BR X 117147723 117147723 single base substitution G A intron_variant SKCA-BR X 117147878 117147878 single base substitution C T intron_variant SKCA-BR X 117148635 117148635 single base substitution C T intron_variant SKCA-BR X 117150765 117150765 single base substitution G A intron_variant SKCA-BR X 117151566 117151566 single base substitution C T intron_variant SKCA-BR X 117151811 117151811 single base substitution G A intron_variant SKCA-BR X 117151911 117151911 single base substitution G A intron_variant SKCA-BR X 117151972 117151972 single base substitution C T intron_variant SKCA-BR X 117153057 117153057 single base substitution C T intron_variant SKCA-BR X 117153144 117153144 single base substitution C T intron_variant SKCA-BR X 117153158 117153158 single base substitution C T intron_variant SKCA-BR X 117153164 117153164 single base substitution C T intron_variant SKCA-BR X 117153457 117153457 single base substitution G T intron_variant SKCA-BR X 117153908 117153908 single base substitution C T intron_variant SKCA-BR X 117153973 117153973 single base substitution T A intron_variant SKCA-BR X 117155548 117155548 single base substitution C T intron_variant SKCA-BR X 117155770 117155770 single base substitution C T intron_variant SKCA-BR X 117155891 117155891 single base substitution C T intron_variant SKCA-BR X 117156167 117156167 single base substitution C T intron_variant SKCA-BR X 117156257 117156257 single base substitution G A intron_variant SKCA-BR X 117156416 117156416 insertion of <=200bp - CCAA intron_variant SKCA-BR X 117156509 117156509 single base substitution G A intron_variant SKCA-BR X 117156528 117156528 single base substitution C T intron_variant SKCA-BR X 117157809 117157809 single base substitution C T intron_variant SKCA-BR X 117157827 117157827 single base substitution C T intron_variant SKCA-BR X 117157988 117157988 single base substitution G A intron_variant SKCA-BR X 117160705 117160705 single base substitution G A intron_variant SKCA-BR X 117160906 117160906 single base substitution G A intron_variant SKCA-BR X 117161710 117161710 single base substitution C T intron_variant SKCA-BR X 117162139 117162139 single base substitution C T intron_variant SKCA-BR X 117162452 117162452 single base substitution G A 5_prime_UTR_variant SKCA-BR X 117162452 117162452 single base substitution G A intron_variant SKCA-BR X 117162893 117162893 single base substitution C A intron_variant SKCA-BR X 117162893 117162893 single base substitution C A upstream_gene_variant SKCA-BR X 117163090 117163090 single base substitution G A intron_variant SKCA-BR X 117163090 117163090 single base substitution G A upstream_gene_variant SKCA-BR X 117164040 117164040 single base substitution C T intron_variant SKCA-BR X 117164040 117164040 single base substitution C T upstream_gene_variant SKCA-BR X 117165524 117165524 single base substitution T C intron_variant SKCA-BR X 117165524 117165524 single base substitution T C upstream_gene_variant SKCA-BR X 117165858 117165858 single base substitution G A intron_variant SKCA-BR X 117165858 117165858 single base substitution G A upstream_gene_variant SKCA-BR X 117166925 117166925 single base substitution G A intron_variant SKCA-BR X 117166925 117166925 single base substitution G A upstream_gene_variant SKCA-BR X 117167055 117167055 single base substitution G A intron_variant SKCA-BR X 117167055 117167055 single base substitution G A upstream_gene_variant SKCA-BR X 117167104 117167104 single base substitution G A intron_variant SKCA-BR X 117167104 117167104 single base substitution G A upstream_gene_variant SKCA-BR X 117167279 117167279 single base substitution G A intron_variant SKCA-BR X 117167279 117167279 single base substitution G A upstream_gene_variant SKCA-BR X 117167437 117167437 single base substitution C T intron_variant SKCA-BR X 117167437 117167437 single base substitution C T upstream_gene_variant SKCA-BR X 117168119 117168119 single base substitution T C intron_variant SKCA-BR X 117168149 117168149 single base substitution A T intron_variant SKCA-BR X 117168352 117168352 single base substitution A C intron_variant SKCA-BR X 117168467 117168467 single base substitution T C intron_variant SKCA-BR X 117170046 117170046 single base substitution G A intron_variant SKCA-BR X 117170434 117170434 single base substitution G A intron_variant SKCA-BR X 117171928 117171928 single base substitution C T intron_variant SKCA-BR X 117171996 117171996 single base substitution G A intron_variant SKCA-BR X 117172348 117172348 single base substitution G A intron_variant SKCA-BR X 117172866 117172866 single base substitution C T intron_variant SKCA-BR X 117173188 117173188 single base substitution C T intron_variant SKCA-BR X 117173209 117173209 single base substitution G A intron_variant SKCA-BR X 117173288 117173288 single base substitution T C intron_variant SKCA-BR X 117173592 117173592 single base substitution G A intron_variant SKCA-BR X 117173892 117173892 single base substitution G A intron_variant SKCA-BR X 117174485 117174485 single base substitution G A intron_variant SKCA-BR X 117174625 117174625 single base substitution G A intron_variant SKCA-BR X 117175463 117175463 single base substitution G A intron_variant SKCA-BR X 117176469 117176469 single base substitution C T intron_variant SKCA-BR X 117176811 117176811 single base substitution C A intron_variant SKCA-BR X 117177446 117177446 single base substitution C T intron_variant SKCA-BR X 117177904 117177904 single base substitution G A intron_variant SKCA-BR X 117178043 117178043 single base substitution C T intron_variant SKCA-BR X 117178602 117178602 single base substitution G A intron_variant SKCA-BR X 117179680 117179680 single base substitution G A intron_variant SKCA-BR X 117179883 117179883 single base substitution G A intron_variant SKCA-BR X 117180039 117180039 single base substitution G A intron_variant SKCA-BR X 117180242 117180242 single base substitution A G intron_variant SKCA-BR X 117181434 117181434 single base substitution G A intron_variant SKCA-BR X 117183558 117183558 single base substitution A C intron_variant SKCA-BR X 117184300 117184300 single base substitution C T intron_variant SKCA-BR X 117184581 117184581 single base substitution C T intron_variant SKCA-BR X 117185105 117185105 single base substitution C T intron_variant SKCA-BR X 117186992 117186992 single base substitution G A intron_variant SKCA-BR X 117187797 117187812 deletion of <=200bp AGAGAGAGAGAGAGAG - intron_variant SKCA-BR X 117187806 117187807 deletion of <=200bp GA - intron_variant SKCA-BR X 117189180 117189180 single base substitution C T intron_variant SKCA-BR X 117189459 117189459 single base substitution A C intron_variant SKCA-BR X 117189628 117189628 single base substitution C T intron_variant SKCA-BR X 117189903 117189903 single base substitution G A intron_variant SKCA-BR X 117190046 117190046 single base substitution G A intron_variant SKCA-BR X 117190158 117190158 single base substitution G A intron_variant SKCA-BR X 117190374 117190374 single base substitution C T intron_variant SKCA-BR X 117191376 117191376 single base substitution A C intron_variant SKCA-BR X 117192107 117192107 single base substitution C T intron_variant SKCA-BR X 117192186 117192186 single base substitution A T intron_variant SKCA-BR X 117192785 117192785 single base substitution G A intron_variant SKCA-BR X 117193116 117193116 single base substitution C T intron_variant SKCA-BR X 117193160 117193160 single base substitution C T intron_variant SKCA-BR X 117193386 117193386 single base substitution C T intron_variant SKCA-BR X 117194838 117194838 single base substitution C T intron_variant SKCA-BR X 117195707 117195707 single base substitution G A intron_variant SKCA-BR X 117196187 117196187 single base substitution A T intron_variant SKCA-BR X 117196845 117196845 single base substitution G A intron_variant SKCA-BR X 117201008 117201008 single base substitution G A intron_variant SKCA-BR X 117201895 117201895 single base substitution C T intron_variant SKCA-BR X 117204312 117204312 single base substitution G A intron_variant SKCA-BR X 117204357 117204357 single base substitution C T intron_variant SKCA-BR X 117205952 117205952 single base substitution C T intron_variant SKCA-BR X 117206263 117206263 single base substitution C T intron_variant SKCA-BR X 117208895 117208895 single base substitution G A intron_variant SKCA-BR X 117208924 117208924 single base substitution G A intron_variant SKCA-BR X 117209409 117209409 single base substitution A T intron_variant SKCA-BR X 117209410 117209410 single base substitution G A intron_variant SKCA-BR X 117209662 117209662 single base substitution G A intron_variant SKCA-BR X 117209706 117209706 single base substitution C T intron_variant SKCA-BR X 117210238 117210238 single base substitution G A intron_variant SKCA-BR X 117210497 117210497 single base substitution G A intron_variant SKCA-BR X 117210535 117210535 single base substitution G A intron_variant SKCA-BR X 117210872 117210872 single base substitution C T intron_variant SKCA-BR X 117211697 117211697 single base substitution T A intron_variant SKCA-BR X 117213594 117213594 single base substitution G A intron_variant SKCA-BR X 117213713 117213713 single base substitution G A intron_variant SKCA-BR X 117214737 117214737 single base substitution G A intron_variant SKCA-BR X 117217619 117217619 single base substitution C T intron_variant SKCA-BR X 117217916 117217916 single base substitution G A intron_variant SKCA-BR X 117218081 117218081 single base substitution G A intron_variant SKCA-BR X 117218104 117218104 single base substitution G A intron_variant SKCA-BR X 117218591 117218591 single base substitution A T intron_variant SKCA-BR X 117218738 117218738 single base substitution C T intron_variant SKCA-BR X 117218933 117218933 single base substitution C T intron_variant SKCA-BR X 117219555 117219555 single base substitution C T intron_variant SKCA-BR X 117220188 117220188 single base substitution C T intron_variant SKCA-BR X 117220606 117220606 single base substitution C T intron_variant SKCA-BR X 117222136 117222136 single base substitution G A intron_variant SKCA-BR X 117222385 117222385 single base substitution G A intron_variant SKCA-BR X 117222828 117222828 single base substitution G A intron_variant SKCA-BR X 117223621 117223621 single base substitution G A intron_variant SKCA-BR X 117224501 117224501 single base substitution C T intron_variant SKCA-BR X 117224566 117224566 single base substitution G A intron_variant SKCA-BR X 117224585 117224585 single base substitution G A intron_variant SKCA-BR X 117224755 117224755 single base substitution G A intron_variant SKCA-BR X 117225228 117225228 single base substitution A T intron_variant SKCA-BR X 117225229 117225229 single base substitution C T intron_variant SKCA-BR X 117225347 117225347 single base substitution G A intron_variant SKCA-BR X 117225396 117225396 single base substitution A T intron_variant SKCA-BR X 117225780 117225780 single base substitution G T intron_variant SKCA-BR X 117225836 117225836 single base substitution G A intron_variant SKCA-BR X 117226888 117226888 single base substitution C G intron_variant SKCA-BR X 117226897 117226897 single base substitution T A intron_variant SKCA-BR X 117228202 117228202 single base substitution G A intron_variant SKCA-BR X 117228453 117228453 single base substitution C T intron_variant SKCA-BR X 117229768 117229768 single base substitution G A intron_variant SKCA-BR X 117230300 117230300 single base substitution G A intron_variant SKCA-BR X 117230357 117230357 single base substitution C T intron_variant SKCA-BR X 117231898 117231898 single base substitution G A intron_variant SKCA-BR X 117232027 117232027 single base substitution C T intron_variant SKCA-BR X 117232195 117232195 single base substitution G A intron_variant SKCA-BR X 117233533 117233533 single base substitution G A intron_variant SKCA-BR X 117233605 117233605 single base substitution C T intron_variant SKCA-BR X 117233857 117233857 single base substitution A G intron_variant SKCA-BR X 117233866 117233866 single base substitution G A intron_variant SKCA-BR X 117233869 117233869 single base substitution A G intron_variant SKCA-BR X 117234801 117234801 single base substitution C T intron_variant SKCA-BR X 117234802 117234802 single base substitution C T intron_variant SKCA-BR X 117235405 117235405 single base substitution G A intron_variant SKCA-BR X 117235577 117235577 single base substitution G A intron_variant SKCA-BR X 117235578 117235578 single base substitution G A intron_variant SKCA-BR X 117236066 117236066 single base substitution G A intron_variant SKCA-BR X 117236213 117236213 single base substitution G A intron_variant SKCA-BR X 117236544 117236544 single base substitution C T intron_variant SKCA-BR X 117237190 117237190 single base substitution T C intron_variant SKCA-BR X 117238590 117238590 single base substitution G A intron_variant SKCA-BR X 117239845 117239845 single base substitution G A intron_variant SKCA-BR X 117240860 117240861 deletion of <=200bp GT - intron_variant SKCA-BR X 117241008 117241008 single base substitution C T intron_variant SKCA-BR X 117241571 117241571 single base substitution C T intron_variant SKCA-BR X 117241960 117241960 single base substitution G A intron_variant SKCA-BR X 117243985 117243985 single base substitution G A intron_variant SKCA-BR X 117245834 117245834 single base substitution G A intron_variant SKCA-BR X 117246031 117246031 single base substitution T C intron_variant SKCA-BR X 117246213 117246213 single base substitution C T intron_variant SKCA-BR X 117246524 117246524 single base substitution A G intron_variant SKCA-BR X 117246896 117246896 single base substitution C T intron_variant SKCA-BR X 117249647 117249647 single base substitution C T intron_variant SKCA-BR X 117251763 117251763 single base substitution G A upstream_gene_variant SKCA-BR X 117253216 117253216 single base substitution T G upstream_gene_variant SKCA-BR X 117254010 117254010 single base substitution G A upstream_gene_variant SKCA-BR X 117254468 117254468 single base substitution G C upstream_gene_variant SKCA-BR X 117254811 117254811 single base substitution C T upstream_gene_variant SKCA-BR X 117255155 117255155 single base substitution G T upstream_gene_variant SKCM-US X 117032885 117032885 single base substitution G A missense_variant L601F 1801C>T SKCM-US X 117032885 117032885 single base substitution G A missense_variant L610F 1828C>T SKCM-US X 117032885 117032885 single base substitution G A missense_variant L636F 1906C>T SKCM-US X 117032885 117032885 single base substitution G A missense_variant L652F 1954C>T SKCM-US X 117032885 117032885 single base substitution G A missense_variant L655F 1963C>T SKCM-US X 117032927 117032927 single base substitution G A missense_variant P587S 1759C>T SKCM-US X 117032927 117032927 single base substitution G A missense_variant P596S 1786C>T SKCM-US X 117032927 117032927 single base substitution G A missense_variant P622S 1864C>T SKCM-US X 117032927 117032927 single base substitution G A missense_variant P638S 1912C>T SKCM-US X 117032927 117032927 single base substitution G A missense_variant P641S 1921C>T SKCM-US X 117032951 117032951 single base substitution G A missense_variant R579C 1735C>T SKCM-US X 117032951 117032951 single base substitution G A missense_variant R588C 1762C>T SKCM-US X 117032951 117032951 single base substitution G A missense_variant R614C 1840C>T SKCM-US X 117032951 117032951 single base substitution G A missense_variant R630C 1888C>T SKCM-US X 117032951 117032951 single base substitution G A missense_variant R633C 1897C>T SKCM-US X 117032999 117032999 single base substitution C T missense_variant D563N 1687G>A SKCM-US X 117032999 117032999 single base substitution C T missense_variant D572N 1714G>A SKCM-US X 117032999 117032999 single base substitution C T missense_variant D598N 1792G>A SKCM-US X 117032999 117032999 single base substitution C T missense_variant D614N 1840G>A SKCM-US X 117032999 117032999 single base substitution C T missense_variant D617N 1849G>A SKCM-US X 117033005 117033005 single base substitution C T missense_variant D561N 1681G>A SKCM-US X 117033005 117033005 single base substitution C T missense_variant D570N 1708G>A SKCM-US X 117033005 117033005 single base substitution C T missense_variant D596N 1786G>A SKCM-US X 117033005 117033005 single base substitution C T missense_variant D612N 1834G>A SKCM-US X 117033005 117033005 single base substitution C T missense_variant D615N 1843G>A SKCM-US X 117033027 117033027 single base substitution C T synonymous_variant E553E 1659G>A SKCM-US X 117033027 117033027 single base substitution C T synonymous_variant E562E 1686G>A SKCM-US X 117033027 117033027 single base substitution C T synonymous_variant E588E 1764G>A SKCM-US X 117033027 117033027 single base substitution C T synonymous_variant E604E 1812G>A SKCM-US X 117033027 117033027 single base substitution C T synonymous_variant E607E 1821G>A SKCM-US X 117033149 117033149 single base substitution G A missense_variant L513F 1537C>T SKCM-US X 117033149 117033149 single base substitution G A missense_variant L522F 1564C>T SKCM-US X 117033149 117033149 single base substitution G A missense_variant L548F 1642C>T SKCM-US X 117033149 117033149 single base substitution G A missense_variant L564F 1690C>T SKCM-US X 117033149 117033149 single base substitution G A missense_variant L567F 1699C>T SKCM-US X 117033271 117033271 single base substitution G A missense_variant T472I 1415C>T SKCM-US X 117033271 117033271 single base substitution G A missense_variant T481I 1442C>T SKCM-US X 117033271 117033271 single base substitution G A missense_variant T507I 1520C>T SKCM-US X 117033271 117033271 single base substitution G A missense_variant T523I 1568C>T SKCM-US X 117033271 117033271 single base substitution G A missense_variant T526I 1577C>T SKCM-US X 117033291 117033291 single base substitution G A synonymous_variant I465I 1395C>T SKCM-US X 117033291 117033291 single base substitution G A synonymous_variant I474I 1422C>T SKCM-US X 117033291 117033291 single base substitution G A synonymous_variant I500I 1500C>T SKCM-US X 117033291 117033291 single base substitution G A synonymous_variant I516I 1548C>T SKCM-US X 117033291 117033291 single base substitution G A synonymous_variant I519I 1557C>T SKCM-US X 117033355 117033355 single base substitution C T missense_variant G444E 1331G>A SKCM-US X 117033355 117033355 single base substitution C T missense_variant G453E 1358G>A SKCM-US X 117033355 117033355 single base substitution C T missense_variant G479E 1436G>A SKCM-US X 117033355 117033355 single base substitution C T missense_variant G495E 1484G>A SKCM-US X 117033355 117033355 single base substitution C T missense_variant G498E 1493G>A SKCM-US X 117035815 117035815 single base substitution T A synonymous_variant G436G 1308A>T SKCM-US X 117035815 117035815 single base substitution T A synonymous_variant G445G 1335A>T SKCM-US X 117035815 117035815 single base substitution T A synonymous_variant G471G 1413A>T SKCM-US X 117035815 117035815 single base substitution T A synonymous_variant G487G 1461A>T SKCM-US X 117035815 117035815 single base substitution T A synonymous_variant G490G 1470A>T SKCM-US X 117035816 117035816 single base substitution C T missense_variant G436E 1307G>A SKCM-US X 117035816 117035816 single base substitution C T missense_variant G445E 1334G>A SKCM-US X 117035816 117035816 single base substitution C T missense_variant G471E 1412G>A SKCM-US X 117035816 117035816 single base substitution C T missense_variant G487E 1460G>A SKCM-US X 117035816 117035816 single base substitution C T missense_variant G490E 1469G>A SKCM-US X 117035835 117035835 single base substitution G A missense_variant H430Y 1288C>T SKCM-US X 117035835 117035835 single base substitution G A missense_variant H439Y 1315C>T SKCM-US X 117035835 117035835 single base substitution G A missense_variant H465Y 1393C>T SKCM-US X 117035835 117035835 single base substitution G A missense_variant H481Y 1441C>T SKCM-US X 117035835 117035835 single base substitution G A missense_variant H484Y 1450C>T SKCM-US X 117035910 117035910 single base substitution C T splice_acceptor_variant SKCM-US X 117043303 117043303 single base substitution G A synonymous_variant L392L 1174C>T SKCM-US X 117043303 117043303 single base substitution G A synonymous_variant L401L 1201C>T SKCM-US X 117043303 117043303 single base substitution G A synonymous_variant L427L 1279C>T SKCM-US X 117043303 117043303 single base substitution G A synonymous_variant L443L 1327C>T SKCM-US X 117043303 117043303 single base substitution G A synonymous_variant L446L 1336C>T SKCM-US X 117043419 117043419 single base substitution C T missense_variant G353E 1058G>A SKCM-US X 117043419 117043419 single base substitution C T missense_variant G362E 1085G>A SKCM-US X 117043419 117043419 single base substitution C T missense_variant G388E 1163G>A SKCM-US X 117043419 117043419 single base substitution C T missense_variant G404E 1211G>A SKCM-US X 117043419 117043419 single base substitution C T missense_variant G407E 1220G>A SKCM-US X 117043429 117043429 single base substitution C T missense_variant D350N 1048G>A SKCM-US X 117043429 117043429 single base substitution C T missense_variant D359N 1075G>A SKCM-US X 117043429 117043429 single base substitution C T missense_variant D385N 1153G>A SKCM-US X 117043429 117043429 single base substitution C T missense_variant D401N 1201G>A SKCM-US X 117043429 117043429 single base substitution C T missense_variant D404N 1210G>A SKCM-US X 117043438 117043438 single base substitution T C missense_variant S347G 1039A>G SKCM-US X 117043438 117043438 single base substitution T C missense_variant S356G 1066A>G SKCM-US X 117043438 117043438 single base substitution T C missense_variant S382G 1144A>G SKCM-US X 117043438 117043438 single base substitution T C missense_variant S398G 1192A>G SKCM-US X 117043438 117043438 single base substitution T C missense_variant S401G 1201A>G SKCM-US X 117043518 117043518 single base substitution G A missense_variant S320L 959C>T SKCM-US X 117043518 117043518 single base substitution G A missense_variant S329L 986C>T SKCM-US X 117043518 117043518 single base substitution G A missense_variant S355L 1064C>T SKCM-US X 117043518 117043518 single base substitution G A missense_variant S371L 1112C>T SKCM-US X 117043518 117043518 single base substitution G A missense_variant S374L 1121C>T SKCM-US X 117043528 117043528 single base substitution C T missense_variant E317K 949G>A SKCM-US X 117043528 117043528 single base substitution C T missense_variant E326K 976G>A SKCM-US X 117043528 117043528 single base substitution C T missense_variant E352K 1054G>A SKCM-US X 117043528 117043528 single base substitution C T missense_variant E368K 1102G>A SKCM-US X 117043528 117043528 single base substitution C T missense_variant E371K 1111G>A SKCM-US X 117043543 117043543 single base substitution C T missense_variant D312N 934G>A SKCM-US X 117043543 117043543 single base substitution C T missense_variant D321N 961G>A SKCM-US X 117043543 117043543 single base substitution C T missense_variant D347N 1039G>A SKCM-US X 117043543 117043543 single base substitution C T missense_variant D363N 1087G>A SKCM-US X 117043543 117043543 single base substitution C T missense_variant D366N 1096G>A SKCM-US X 117043590 117043590 single base substitution C T missense_variant G296E 887G>A SKCM-US X 117043590 117043590 single base substitution C T missense_variant G305E 914G>A SKCM-US X 117043590 117043590 single base substitution C T missense_variant G331E 992G>A SKCM-US X 117043590 117043590 single base substitution C T missense_variant G347E 1040G>A SKCM-US X 117043590 117043590 single base substitution C T missense_variant G350E 1049G>A SKCM-US X 117043651 117043651 single base substitution C T missense_variant V276I 826G>A SKCM-US X 117043651 117043651 single base substitution C T missense_variant V285I 853G>A SKCM-US X 117043651 117043651 single base substitution C T missense_variant V311I 931G>A SKCM-US X 117043651 117043651 single base substitution C T missense_variant V327I 979G>A SKCM-US X 117043651 117043651 single base substitution C T missense_variant V330I 988G>A SKCM-US X 117043777 117043777 single base substitution G A missense_variant P234S 700C>T SKCM-US X 117043777 117043777 single base substitution G A missense_variant P243S 727C>T SKCM-US X 117043777 117043777 single base substitution G A missense_variant P269S 805C>T SKCM-US X 117043777 117043777 single base substitution G A missense_variant P285S 853C>T SKCM-US X 117043777 117043777 single base substitution G A missense_variant P288S 862C>T SKCM-US X 117043931 117043931 single base substitution C T synonymous_variant L182L 546G>A SKCM-US X 117043931 117043931 single base substitution C T synonymous_variant L191L 573G>A SKCM-US X 117043931 117043931 single base substitution C T synonymous_variant L217L 651G>A SKCM-US X 117043931 117043931 single base substitution C T synonymous_variant L233L 699G>A SKCM-US X 117043931 117043931 single base substitution C T synonymous_variant L236L 708G>A SKCM-US X 117043960 117043960 single base substitution G A missense_variant P173S 517C>T SKCM-US X 117043960 117043960 single base substitution G A missense_variant P182S 544C>T SKCM-US X 117043960 117043960 single base substitution G A missense_variant P208S 622C>T SKCM-US X 117043960 117043960 single base substitution G A missense_variant P224S 670C>T SKCM-US X 117043960 117043960 single base substitution G A missense_variant P227S 679C>T SKCM-US X 117043967 117043967 single base substitution C T synonymous_variant K170K 510G>A SKCM-US X 117043967 117043967 single base substitution C T synonymous_variant K179K 537G>A SKCM-US X 117043967 117043967 single base substitution C T synonymous_variant K205K 615G>A SKCM-US X 117043967 117043967 single base substitution C T synonymous_variant K221K 663G>A SKCM-US X 117043967 117043967 single base substitution C T synonymous_variant K224K 672G>A SKCM-US X 117043976 117043976 single base substitution G A synonymous_variant F167F 501C>T SKCM-US X 117043976 117043976 single base substitution G A synonymous_variant F176F 528C>T SKCM-US X 117043976 117043976 single base substitution G A synonymous_variant F202F 606C>T SKCM-US X 117043976 117043976 single base substitution G A synonymous_variant F218F 654C>T SKCM-US X 117043976 117043976 single base substitution G A synonymous_variant F221F 663C>T SKCM-US X 117044002 117044002 single base substitution C T missense_variant E159K 475G>A SKCM-US X 117044002 117044002 single base substitution C T missense_variant E168K 502G>A SKCM-US X 117044002 117044002 single base substitution C T missense_variant E194K 580G>A SKCM-US X 117044002 117044002 single base substitution C T missense_variant E210K 628G>A SKCM-US X 117044002 117044002 single base substitution C T missense_variant E213K 637G>A SKCM-US X 117053493 117053493 single base substitution G A downstream_gene_variant SKCM-US X 117053493 117053493 single base substitution G A synonymous_variant L136L 408C>T SKCM-US X 117053493 117053493 single base substitution G A synonymous_variant L145L 435C>T SKCM-US X 117053493 117053493 single base substitution G A synonymous_variant L171L 513C>T SKCM-US X 117053493 117053493 single base substitution G A synonymous_variant L187L 561C>T SKCM-US X 117053493 117053493 single base substitution G A synonymous_variant L190L 570C>T SKCM-US X 117053514 117053514 single base substitution C T downstream_gene_variant SKCM-US X 117053514 117053514 single base substitution C T synonymous_variant L129L 387G>A SKCM-US X 117053514 117053514 single base substitution C T synonymous_variant L138L 414G>A SKCM-US X 117053514 117053514 single base substitution C T synonymous_variant L164L 492G>A SKCM-US X 117053514 117053514 single base substitution C T synonymous_variant L180L 540G>A SKCM-US X 117053514 117053514 single base substitution C T synonymous_variant L183L 549G>A SKCM-US X 117053534 117053534 single base substitution G A downstream_gene_variant SKCM-US X 117053534 117053534 single base substitution G A synonymous_variant L123L 367C>T SKCM-US X 117053534 117053534 single base substitution G A synonymous_variant L132L 394C>T SKCM-US X 117053534 117053534 single base substitution G A synonymous_variant L158L 472C>T SKCM-US X 117053534 117053534 single base substitution G A synonymous_variant L174L 520C>T SKCM-US X 117053534 117053534 single base substitution G A synonymous_variant L177L 529C>T SKCM-US X 117053535 117053535 single base substitution G A downstream_gene_variant SKCM-US X 117053535 117053535 single base substitution G A synonymous_variant F122F 366C>T SKCM-US X 117053535 117053535 single base substitution G A synonymous_variant F131F 393C>T SKCM-US X 117053535 117053535 single base substitution G A synonymous_variant F157F 471C>T SKCM-US X 117053535 117053535 single base substitution G A synonymous_variant F173F 519C>T SKCM-US X 117053535 117053535 single base substitution G A synonymous_variant F176F 528C>T SKCM-US X 117053560 117053560 single base substitution T C downstream_gene_variant SKCM-US X 117053560 117053560 single base substitution T C missense_variant Q114R 341A>G SKCM-US X 117053560 117053560 single base substitution T C missense_variant Q123R 368A>G SKCM-US X 117053560 117053560 single base substitution T C missense_variant Q149R 446A>G SKCM-US X 117053560 117053560 single base substitution T C missense_variant Q165R 494A>G SKCM-US X 117053560 117053560 single base substitution T C missense_variant Q168R 503A>G SKCM-US X 117053571 117053571 single base substitution C T downstream_gene_variant SKCM-US X 117053571 117053571 single base substitution C T missense_variant M110I 330G>A SKCM-US X 117053571 117053571 single base substitution C T missense_variant M119I 357G>A SKCM-US X 117053571 117053571 single base substitution C T missense_variant M145I 435G>A SKCM-US X 117053571 117053571 single base substitution C T missense_variant M161I 483G>A SKCM-US X 117053571 117053571 single base substitution C T missense_variant M164I 492G>A SKCM-US X 117053615 117053615 single base substitution T A downstream_gene_variant SKCM-US X 117053615 117053615 single base substitution T A stop_gained K105* 313A>T SKCM-US X 117053615 117053615 single base substitution T A stop_gained K131* 391A>T SKCM-US X 117053615 117053615 single base substitution T A stop_gained K147* 439A>T SKCM-US X 117053615 117053615 single base substitution T A stop_gained K150* 448A>T SKCM-US X 117053615 117053615 single base substitution T A stop_gained K96* 286A>T SKCM-US X 117053616 117053616 single base substitution C T downstream_gene_variant SKCM-US X 117053616 117053616 single base substitution C T synonymous_variant R104R 312G>A SKCM-US X 117053616 117053616 single base substitution C T synonymous_variant R130R 390G>A SKCM-US X 117053616 117053616 single base substitution C T synonymous_variant R146R 438G>A SKCM-US X 117053616 117053616 single base substitution C T synonymous_variant R149R 447G>A SKCM-US X 117053616 117053616 single base substitution C T synonymous_variant R95R 285G>A SKCM-US X 117053617 117053617 single base substitution C T downstream_gene_variant SKCM-US X 117053617 117053617 single base substitution C T missense_variant R104K 311G>A SKCM-US X 117053617 117053617 single base substitution C T missense_variant R130K 389G>A SKCM-US X 117053617 117053617 single base substitution C T missense_variant R146K 437G>A SKCM-US X 117053617 117053617 single base substitution C T missense_variant R149K 446G>A SKCM-US X 117053617 117053617 single base substitution C T missense_variant R95K 284G>A SKCM-US X 117054225 117054225 single base substitution C T downstream_gene_variant SKCM-US X 117054225 117054225 single base substitution C T missense_variant D101N 301G>A SKCM-US X 117054225 117054225 single base substitution C T missense_variant D117N 349G>A SKCM-US X 117054225 117054225 single base substitution C T missense_variant D120N 358G>A SKCM-US X 117054225 117054225 single base substitution C T missense_variant D66N 196G>A SKCM-US X 117054225 117054225 single base substitution C T missense_variant D75N 223G>A SKCM-US X 117079486 117079486 single base substitution C T 5_prime_UTR_variant SKCM-US X 117079486 117079486 single base substitution C T missense_variant E35K 103G>A SKCM-US X 117079486 117079486 single base substitution C T missense_variant E51K 151G>A SKCM-US X 117079486 117079486 single base substitution C T missense_variant E54K 160G>A SKCM-US X 117079486 117079486 single base substitution C T missense_variant E9K 25G>A SKCM-US X 117079498 117079498 single base substitution G A 5_prime_UTR_variant SKCM-US X 117079498 117079498 single base substitution G A missense_variant L31F 91C>T SKCM-US X 117079498 117079498 single base substitution G A missense_variant L47F 139C>T SKCM-US X 117079498 117079498 single base substitution G A missense_variant L50F 148C>T SKCM-US X 117079498 117079498 single base substitution G A missense_variant L5F 13C>T SKCM-US X 117079508 117079508 single base substitution C T 5_prime_UTR_variant SKCM-US X 117079508 117079508 single base substitution C T missense_variant M27I 81G>A SKCM-US X 117079508 117079508 single base substitution C T missense_variant M43I 129G>A SKCM-US X 117079508 117079508 single base substitution C T missense_variant M46I 138G>A SKCM-US X 117079508 117079508 single base substitution C T start_lost M1I 3G>A SKCM-US X 117079528 117079528 single base substitution C T 5_prime_UTR_variant SKCM-US X 117079528 117079528 single base substitution C T missense_variant E21K 61G>A SKCM-US X 117079528 117079528 single base substitution C T missense_variant E37K 109G>A SKCM-US X 117079528 117079528 single base substitution C T missense_variant E40K 118G>A SKCM-US X 117079532 117079532 single base substitution G A 5_prime_UTR_premature_start_codon_gain_variant SKCM-US X 117079532 117079532 single base substitution G A synonymous_variant L19L 57C>T SKCM-US X 117079532 117079532 single base substitution G A synonymous_variant L35L 105C>T SKCM-US X 117079532 117079532 single base substitution G A synonymous_variant L38L 114C>T STAD-US X 117032969 117032969 single base substitution C A stop_gained E573* 1717G>T STAD-US X 117032969 117032969 single base substitution C A stop_gained E582* 1744G>T STAD-US X 117032969 117032969 single base substitution C A stop_gained E608* 1822G>T STAD-US X 117032969 117032969 single base substitution C A stop_gained E624* 1870G>T STAD-US X 117032969 117032969 single base substitution C A stop_gained E627* 1879G>T STAD-US X 117033040 117033040 single base substitution C T missense_variant R549H 1646G>A STAD-US X 117033040 117033040 single base substitution C T missense_variant R558H 1673G>A STAD-US X 117033040 117033040 single base substitution C T missense_variant R584H 1751G>A STAD-US X 117033040 117033040 single base substitution C T missense_variant R600H 1799G>A STAD-US X 117033040 117033040 single base substitution C T missense_variant R603H 1808G>A STAD-US X 117043339 117043339 single base substitution G A missense_variant R380C 1138C>T STAD-US X 117043339 117043339 single base substitution G A missense_variant R389C 1165C>T STAD-US X 117043339 117043339 single base substitution G A missense_variant R415C 1243C>T STAD-US X 117043339 117043339 single base substitution G A missense_variant R431C 1291C>T STAD-US X 117043339 117043339 single base substitution G A missense_variant R434C 1300C>T STAD-US X 117043783 117043783 single base substitution G A stop_gained R232* 694C>T STAD-US X 117043783 117043783 single base substitution G A stop_gained R241* 721C>T STAD-US X 117043783 117043783 single base substitution G A stop_gained R267* 799C>T STAD-US X 117043783 117043783 single base substitution G A stop_gained R283* 847C>T STAD-US X 117043783 117043783 single base substitution G A stop_gained R286* 856C>T STAD-US X 117043899 117043899 single base substitution A C missense_variant L193R 578T>G STAD-US X 117043899 117043899 single base substitution A C missense_variant L202R 605T>G STAD-US X 117043899 117043899 single base substitution A C missense_variant L228R 683T>G STAD-US X 117043899 117043899 single base substitution A C missense_variant L244R 731T>G STAD-US X 117043899 117043899 single base substitution A C missense_variant L247R 740T>G STAD-US X 117053538 117053538 single base substitution A G downstream_gene_variant STAD-US X 117053538 117053538 single base substitution A G synonymous_variant S121S 363T>C STAD-US X 117053538 117053538 single base substitution A G synonymous_variant S130S 390T>C STAD-US X 117053538 117053538 single base substitution A G synonymous_variant S156S 468T>C STAD-US X 117053538 117053538 single base substitution A G synonymous_variant S172S 516T>C STAD-US X 117053538 117053538 single base substitution A G synonymous_variant S175S 525T>C STAD-US X 117054219 117054219 single base substitution A G downstream_gene_variant STAD-US X 117054219 117054219 single base substitution A G missense_variant F103L 307T>C STAD-US X 117054219 117054219 single base substitution A G missense_variant F119L 355T>C STAD-US X 117054219 117054219 single base substitution A G missense_variant F122L 364T>C STAD-US X 117054219 117054219 single base substitution A G missense_variant F68L 202T>C STAD-US X 117054219 117054219 single base substitution A G missense_variant F77L 229T>C STAD-US X 117054233 117054233 single base substitution G C downstream_gene_variant STAD-US X 117054233 117054233 single base substitution G C missense_variant S114C 341C>G STAD-US X 117054233 117054233 single base substitution G C missense_variant S117C 350C>G STAD-US X 117054233 117054233 single base substitution G C missense_variant S63C 188C>G STAD-US X 117054233 117054233 single base substitution G C missense_variant S72C 215C>G STAD-US X 117054233 117054233 single base substitution G C missense_variant S98C 293C>G STAD-US X 117079445 117079445 single base substitution T G synonymous_variant G13G 39A>C STAD-US X 117079445 117079445 single base substitution T G synonymous_variant G22G 66A>C STAD-US X 117079445 117079445 single base substitution T G synonymous_variant G48G 144A>C STAD-US X 117079445 117079445 single base substitution T G synonymous_variant G64G 192A>C STAD-US X 117079445 117079445 single base substitution T G synonymous_variant G67G 201A>C THCA-US X 117053625 117053625 single base substitution G A downstream_gene_variant THCA-US X 117053625 117053625 single base substitution G A synonymous_variant V101V 303C>T THCA-US X 117053625 117053625 single base substitution G A synonymous_variant V127V 381C>T THCA-US X 117053625 117053625 single base substitution G A synonymous_variant V143V 429C>T THCA-US X 117053625 117053625 single base substitution G A synonymous_variant V146V 438C>T THCA-US X 117053625 117053625 single base substitution G A synonymous_variant V92V 276C>T UCEC-US X 117033084 117033084 single base substitution G A synonymous_variant F534F 1602C>T UCEC-US X 117033084 117033084 single base substitution G A synonymous_variant F543F 1629C>T UCEC-US X 117033084 117033084 single base substitution G A synonymous_variant F569F 1707C>T UCEC-US X 117033084 117033084 single base substitution G A synonymous_variant F585F 1755C>T UCEC-US X 117033084 117033084 single base substitution G A synonymous_variant F588F 1764C>T UCEC-US X 117033093 117033093 single base substitution G A synonymous_variant V531V 1593C>T UCEC-US X 117033093 117033093 single base substitution G A synonymous_variant V540V 1620C>T UCEC-US X 117033093 117033093 single base substitution G A synonymous_variant V566V 1698C>T UCEC-US X 117033093 117033093 single base substitution G A synonymous_variant V582V 1746C>T UCEC-US X 117033093 117033093 single base substitution G A synonymous_variant V585V 1755C>T UCEC-US X 117033288 117033288 single base substitution C A missense_variant Q466H 1398G>T UCEC-US X 117033288 117033288 single base substitution C A missense_variant Q475H 1425G>T UCEC-US X 117033288 117033288 single base substitution C A missense_variant Q501H 1503G>T UCEC-US X 117033288 117033288 single base substitution C A missense_variant Q517H 1551G>T UCEC-US X 117033288 117033288 single base substitution C A missense_variant Q520H 1560G>T UCEC-US X 117035910 117035910 single base substitution C A splice_acceptor_variant UCEC-US X 117043345 117043345 single base substitution C A stop_gained E378* 1132G>T UCEC-US X 117043345 117043345 single base substitution C A stop_gained E387* 1159G>T UCEC-US X 117043345 117043345 single base substitution C A stop_gained E413* 1237G>T UCEC-US X 117043345 117043345 single base substitution C A stop_gained E429* 1285G>T UCEC-US X 117043345 117043345 single base substitution C A stop_gained E432* 1294G>T UCEC-US X 117043367 117043367 single base substitution C G missense_variant W370C 1110G>C UCEC-US X 117043367 117043367 single base substitution C G missense_variant W379C 1137G>C UCEC-US X 117043367 117043367 single base substitution C G missense_variant W405C 1215G>C UCEC-US X 117043367 117043367 single base substitution C G missense_variant W421C 1263G>C UCEC-US X 117043367 117043367 single base substitution C G missense_variant W424C 1272G>C UCEC-US X 117043465 117043465 single base substitution T G missense_variant N338H 1012A>C UCEC-US X 117043465 117043465 single base substitution T G missense_variant N347H 1039A>C UCEC-US X 117043465 117043465 single base substitution T G missense_variant N373H 1117A>C UCEC-US X 117043465 117043465 single base substitution T G missense_variant N389H 1165A>C UCEC-US X 117043465 117043465 single base substitution T G missense_variant N392H 1174A>C UCEC-US X 117043591 117043591 single base substitution C A stop_gained G296* 886G>T UCEC-US X 117043591 117043591 single base substitution C A stop_gained G305* 913G>T UCEC-US X 117043591 117043591 single base substitution C A stop_gained G331* 991G>T UCEC-US X 117043591 117043591 single base substitution C A stop_gained G347* 1039G>T UCEC-US X 117043591 117043591 single base substitution C A stop_gained G350* 1048G>T UCEC-US X 117043788 117043788 single base substitution T C missense_variant N230S 689A>G UCEC-US X 117043788 117043788 single base substitution T C missense_variant N239S 716A>G UCEC-US X 117043788 117043788 single base substitution T C missense_variant N265S 794A>G UCEC-US X 117043788 117043788 single base substitution T C missense_variant N281S 842A>G UCEC-US X 117043788 117043788 single base substitution T C missense_variant N284S 851A>G UCEC-US X 117043861 117043861 single base substitution G A missense_variant L206F 616C>T UCEC-US X 117043861 117043861 single base substitution G A missense_variant L215F 643C>T UCEC-US X 117043861 117043861 single base substitution G A missense_variant L241F 721C>T UCEC-US X 117043861 117043861 single base substitution G A missense_variant L257F 769C>T UCEC-US X 117043861 117043861 single base substitution G A missense_variant L260F 778C>T UCEC-US X 117043931 117043931 single base substitution C A missense_variant L182F 546G>T UCEC-US X 117043931 117043931 single base substitution C A missense_variant L191F 573G>T UCEC-US X 117043931 117043931 single base substitution C A missense_variant L217F 651G>T UCEC-US X 117043931 117043931 single base substitution C A missense_variant L233F 699G>T UCEC-US X 117043931 117043931 single base substitution C A missense_variant L236F 708G>T UCEC-US X 117044002 117044002 single base substitution C T missense_variant E159K 475G>A UCEC-US X 117044002 117044002 single base substitution C T missense_variant E168K 502G>A UCEC-US X 117044002 117044002 single base substitution C T missense_variant E194K 580G>A UCEC-US X 117044002 117044002 single base substitution C T missense_variant E210K 628G>A UCEC-US X 117044002 117044002 single base substitution C T missense_variant E213K 637G>A UCEC-US X 117053529 117053529 single base substitution C T downstream_gene_variant UCEC-US X 117053529 117053529 single base substitution C T synonymous_variant Q124Q 372G>A UCEC-US X 117053529 117053529 single base substitution C T synonymous_variant Q133Q 399G>A UCEC-US X 117053529 117053529 single base substitution C T synonymous_variant Q159Q 477G>A UCEC-US X 117053529 117053529 single base substitution C T synonymous_variant Q175Q 525G>A UCEC-US X 117053529 117053529 single base substitution C T synonymous_variant Q178Q 534G>A UCEC-US X 117053614 117053614 single base substitution T G downstream_gene_variant UCEC-US X 117053614 117053614 single base substitution T G missense_variant K105T 314A>C UCEC-US X 117053614 117053614 single base substitution T G missense_variant K131T 392A>C UCEC-US X 117053614 117053614 single base substitution T G missense_variant K147T 440A>C UCEC-US X 117053614 117053614 single base substitution T G missense_variant K150T 449A>C UCEC-US X 117053614 117053614 single base substitution T G missense_variant K96T 287A>C UCEC-US X 117053679 117053679 single base substitution A T downstream_gene_variant UCEC-US X 117053679 117053679 single base substitution A T splice_region_variant UCEC-US X 117054291 117054291 single base substitution T C downstream_gene_variant UCEC-US X 117054291 117054291 single base substitution T C missense_variant T44A 130A>G UCEC-US X 117054291 117054291 single base substitution T C missense_variant T53A 157A>G UCEC-US X 117054291 117054291 single base substitution T C missense_variant T79A 235A>G UCEC-US X 117054291 117054291 single base substitution T C missense_variant T95A 283A>G UCEC-US X 117054291 117054291 single base substitution T C missense_variant T98A 292A>G UCEC-US X 117079442 117079442 single base substitution A G synonymous_variant P14P 42T>C UCEC-US X 117079442 117079442 single base substitution A G synonymous_variant P23P 69T>C UCEC-US X 117079442 117079442 single base substitution A G synonymous_variant P49P 147T>C UCEC-US X 117079442 117079442 single base substitution A G synonymous_variant P65P 195T>C UCEC-US X 117079442 117079442 single base substitution A G synonymous_variant P68P 204T>C

Mutation - COSMIC Sample Name Mutation ID Mutation CDS Mutation AA Mutation Description Mutation Genome Position Mutation Strand LUAD-YINHD COSM388620 c.540G>T p.L180F Substitution - Missense 23:117919551-117919551 - 10-P083 COSM4589123 c.1121C>G p.P374R Substitution - Missense 23:117909546-117909546 - SNU-175 COSM2722870 c.1628A>G p.N543S Substitution - Missense 23:117899248-117899248 - ATL045 COSM5711463 c.668T>G p.F223C Substitution - Missense 23:117909999-117909999 - TCGA-19-2620-01 COSM3405868 c.894G>A p.T298T Substitution - coding silent 23:117909773-117909773 - pfg038T COSM4760479 c.601C>T p.R201W Substitution - Missense 23:117910066-117910066 - TCGA-GC-A3I6-01 COSM1315129 c.473C>G p.S158C Substitution - Missense 23:117919618-117919618 - PT33 COSM1724087 c.1367-6delT p.? Unknown 23:117901952-117901952 - 53M COSM3557109 c.1087G>A p.D363N Substitution - Missense 23:117909580-117909580 - ESCC_146 COSM5644751 c.1277C>T p.S426F Substitution - Missense 23:117909390-117909390 - TCGA-IR-A3LK-01 COSM4816701 c.1173C>G p.L391L Substitution - coding silent 23:117909494-117909494 - TCGA-ER-A2NH-06 COSM388619 c.1888C>T p.R630C Substitution - Missense 23:117898988-117898988 - HCC2998 COSM2722859 c.1945G>A p.E649K Substitution - Missense 23:117898931-117898931 - Pat_76_B COSM3913246 c.151G>A p.E51K Substitution - Missense 23:117945523-117945523 - ME030T COSM227183 c.1112C>T p.S371L Substitution - Missense 23:117909555-117909555 - TCGA-B5-A0JY-01 COSM1113604 c.440A>C p.K147T Substitution - Missense 23:117919651-117919651 - EV007-R3 COSM3913242 c.670C>T p.P224S Substitution - Missense 23:117909997-117909997 - TCGA-EE-A2GC-06 COSM3557112 c.853C>T p.P285S Substitution - Missense 23:117909814-117909814 - LUAD-F00018 COSM365511 c.1748C>A p.A583D Substitution - Missense 23:117899128-117899128 - PD6751a COSM1637773 c.1366+5G>T p.? Unknown 23:117909296-117909296 - TCGA-AP-A05N-01 COSM1113607 c.195T>C p.P65P Substitution - coding silent 23:117945479-117945479 - TCGA-D8-A1XK-01 COSM1490390 c.485A>G p.D162G Substitution - Missense 23:117919606-117919606 - TCGA-EE-A3JA-06 COSM2722903 c.105C>T p.L35L Substitution - coding silent 23:117945569-117945569 - TCGA-BS-A0UV-01 COSM1113603 c.525G>A p.Q175Q Substitution - coding silent 23:117919566-117919566 - TCGA-F5-6464-01 COSM1569750 c.1309A>C p.S437R Substitution - Missense 23:117909358-117909358 - PD23563a COSM5774238 c.1587C>A p.C529* Substitution - Nonsense 23:117899289-117899289 - YUNEKI COSM5411837 c.1072G>A p.E358K Substitution - Missense 23:117909595-117909595 - TCGA-AG-3892-01 COSM257247 c.1250G>A p.R417Q Substitution - Missense 23:117909417-117909417 - sysucc-311T COSM3557102 c.1484G>A p.G495E Substitution - Missense 23:117899392-117899392 - TCGA-FW-A3R5-06 COSM3913246 c.151G>A p.E51K Substitution - Missense 23:117945523-117945523 - TCGA-19-5950-01 COSM3405867 c.1105T>A p.W369R Substitution - Missense 23:117909562-117909562 - MDA-N COSM1682829 c.1954C>T p.L652F Substitution - Missense 23:117898922-117898922 - PT31 COSM227183 c.1112C>T p.S371L Substitution - Missense 23:117909555-117909555 - Gp5D COSM2722899 c.367T>G p.F123V Substitution - Missense 23:117920244-117920244 - 49M COSM230430 c.1211G>A p.G404E Substitution - Missense 23:117909456-117909456 - PD13304a COSM5773375 c.1090G>A p.E364K Substitution - Missense 23:117909577-117909577 - PCSI_0358_Pa_P_526 COSM5761169 c.430G>A p.G144S Substitution - Missense 23:117919661-117919661 - PD3995a COSM162023 c.250C>A p.Q84K Substitution - Missense 23:117920361-117920361 - TCGA-06-0122 COSM2149252 c.1661T>A p.V554D Substitution - Missense 23:117899215-117899215 - TCGA-A5-A0VP-01 COSM1113606 c.283A>G p.T95A Substitution - Missense 23:117920328-117920328 - TCGA-ER-A19F-06 COSM3557118 c.483G>A p.M161I Substitution - Missense 23:117919608-117919608 - YUSWI COSM1715454 c.109G>A p.E37K Substitution - Missense 23:117945565-117945565 - 40M COSM5585621 c.218C>T p.T73I Substitution - Missense 23:117945456-117945456 - BRC29 COSM5028994 c.1430C>T p.P477L Substitution - Missense 23:117901883-117901883 - Gp2D COSM2722899 c.367T>G p.F123V Substitution - Missense 23:117920244-117920244 - 8016470 COSM3390389 c.578T>C p.L193S Substitution - Missense 23:117910089-117910089 - pfg181T COSM2722882 c.797G>A p.R266H Substitution - Missense 23:117909870-117909870 - LUAD-NYU160 COSM370647 c.307G>T p.D103Y Substitution - Missense 23:117920304-117920304 - LUAD-NYU1096 COSM369211 c.1031C>A p.T344K Substitution - Missense 23:117909636-117909636 - TCGA-AF-5654-01 COSM1569749 c.885C>T p.Y295Y Substitution - coding silent 23:117909782-117909782 - TCGA-D3-A3C8-06 COSM3557106 c.1201G>A p.D401N Substitution - Missense 23:117909466-117909466 - BK0016 COSM4185993 c.1738G>T p.V580F Substitution - Missense 23:117899138-117899138 - TCGA-FS-A1ZA-06 COSM3557099 c.1834G>A p.D612N Substitution - Missense 23:117899042-117899042 - C086 COSM230430 c.1211G>A p.G404E Substitution - Missense 23:117909456-117909456 - TCGA-D3-A5GO-06 COSM3557104 c.1460G>A p.G487E Substitution - Missense 23:117901853-117901853 - TCGA-AP-A0LM-01 COSM202004 c.842A>G p.N281S Substitution - Missense 23:117909825-117909825 - TCGA-EE-A2MM-06 COSM3557119 c.439A>T p.K147* Substitution - Nonsense 23:117919652-117919652 - PT36 COSM5916948 c.1955T>C p.L652P Substitution - Missense 23:117898921-117898921 - TCGA-D3-A51R-06 COSM3913242 c.670C>T p.P224S Substitution - Missense 23:117909997-117909997 - TCGA-06-0878-01 COSM2152227 c.335T>A p.M112K Substitution - Missense 23:117920276-117920276 - TCGA-EE-A29D-06 COSM3557115 c.520C>T p.L174L Substitution - coding silent 23:117919571-117919571 - SJRHB013 COSM3557097 c.1912C>T p.P638S Substitution - Missense 23:117898964-117898964 - C086 COSM1113590 c.1755C>T p.F585F Substitution - coding silent 23:117899121-117899121 - EV007-R4 COSM3913242 c.670C>T p.P224S Substitution - Missense 23:117909997-117909997 - RKO COSM2722865 c.1782delG p.Y595fs*9 Deletion - Frameshift 23:117899094-117899094 - YUBER COSM1686335 c.1262G>A p.W421* Substitution - Nonsense 23:117909405-117909405 - TCGA-EE-A2MC-06 COSM3557110 c.1040G>A p.G347E Substitution - Missense 23:117909627-117909627 - LIM2551 COSM388620 c.540G>T p.L180F Substitution - Missense 23:117919551-117919551 - TCGA-BR-4280-01 COSM4106059 c.355T>C p.F119L Substitution - Missense 23:117920256-117920256 - TCGA-AA-A01G-01 COSM299845 c.1321G>T p.G441* Substitution - Nonsense 23:117909346-117909346 - TCGA-ER-A197-06 COSM3557107 c.1192A>G p.S398G Substitution - Missense 23:117909475-117909475 - SS6003113 COSM3414241 c.1508A>C p.K503T Substitution - Missense 23:117899368-117899368 - TCGA-DR-A0ZM-01 COSM462335 c.493C>G p.Q165E Substitution - Missense 23:117919598-117919598 - GC1_T COSM150809 c.1600G>T p.G534* Substitution - Nonsense 23:117899276-117899276 - PD4006a COSM219371 c.101C>A p.S34Y Substitution - Missense 23:117945573-117945573 - TCGA-BH-A18T-01 COSM212938 c.1556C>T p.A519V Substitution - Missense 23:117899320-117899320 - TCGA-BR-6705-01 COSM4106049 c.1799G>A p.R600H Substitution - Missense 23:117899077-117899077 - TCGA-BS-A0TC-01 COSM1113595 c.1285G>T p.E429* Substitution - Nonsense 23:117909382-117909382 - PD4006a COSM219371 c.101C>A p.S34Y Substitution - Missense 23:117945573-117945573 - TCGA-EB-A3XD-01 COSM3557098 c.1840G>A p.D614N Substitution - Missense 23:117899036-117899036 - T3118 COSM4696463 c.158G>A p.G53D Substitution - Missense 23:117945516-117945516 - YULAN COSM1715452 c.156G>A p.M52I Substitution - Missense 23:117945518-117945518 - TCGA-BJ-A2N8-01 COSM3372029 c.429C>T p.V143V Substitution - coding silent 23:117919662-117919662 - 16989 COSM5616199 c.1609C>T p.L537F Substitution - Missense 23:117899267-117899267 - TCGA-EI-6917-01 COSM3424372 c.257G>A p.R86Q Substitution - Missense 23:117920354-117920354 - SJRHB013_D COSM3557097 c.1912C>T p.P638S Substitution - Missense 23:117898964-117898964 - 2492726 COSM5725221 c.1503C>T p.F501F Substitution - coding silent 23:117899373-117899373 - TCGA-ER-A19F-06 COSM2722889 c.654C>T p.F218F Substitution - coding silent 23:117910013-117910013 - TCGA-D3-A2JL-06 COSM3557101 c.1548C>T p.I516I Substitution - coding silent 23:117899328-117899328 - TCGA-60-2720-01 COSM754499 c.1545G>T p.W515C Substitution - Missense 23:117899331-117899331 - C086 COSM299845 c.1321G>T p.G441* Substitution - Nonsense 23:117909346-117909346 - YUSMI COSM5411840 c.97A>T p.I33L Substitution - Missense 23:117972732-117972732 - TCGA-B5-A0JN-01 COSM1113598 c.1040G>T p.G347V Substitution - Missense 23:117909627-117909627 - TCGA-A6-5665-01 COSM1465098 c.1499C>A p.T500N Substitution - Missense 23:117899377-117899377 - SJHGG022_D COSM4969442 c.1591T>A p.C531S Substitution - Missense 23:117899285-117899285 - BN33T COSM1625431 c.1762A>G p.K588E Substitution - Missense 23:117899114-117899114 - TCGA-EE-A3AF-06 COSM2722888 c.663G>A p.K221K Substitution - coding silent 23:117910004-117910004 - TCGA-EE-A2GJ-06 COSM3557117 c.494A>G p.Q165R Substitution - Missense 23:117919597-117919597 - Gp5D COSM2722891 c.640T>A p.Y214N Substitution - Missense 23:117910027-117910027 - PDA_071 COSM5001766 c.979G>T p.V327F Substitution - Missense 23:117909688-117909688 - TCGA-FW-A3R5-06 COSM3913244 c.540G>A p.L180L Substitution - coding silent 23:117919551-117919551 - 12-P412 COSM4589125 c.260T>C p.L87P Substitution - Missense 23:117920351-117920351 - TCGA-B5-A0JY-01 COSM1113602 c.628G>A p.E210K Substitution - Missense 23:117910039-117910039 - TCGA-AP-A056-01 COSM1113590 c.1755C>T p.F585F Substitution - coding silent 23:117899121-117899121 - TCGA-DK-A3IL-01 COSM1315130 c.241-1G>T p.? Unknown 23:117920371-117920371 - RK107_C01 COSM1636349 c.1807G>T p.V603L Substitution - Missense 23:117899069-117899069 - TCGA-B5-A11N-01 COSM1113599 c.1039G>T p.G347* Substitution - Nonsense 23:117909628-117909628 - TCGA-FS-A1ZW-06 COSM3557103 c.1461A>T p.G487G Substitution - coding silent 23:117901852-117901852 - PD24308a COSM5784824 c.1737T>C p.D579D Substitution - coding silent 23:117899139-117899139 - TCGA-EE-A2GO-06 COSM3557121 c.437G>A p.R146K Substitution - Missense 23:117919654-117919654 - TCGA-BR-4361-01 COSM4106057 c.516T>C p.S172S Substitution - coding silent 23:117919575-117919575 - XHDG17 COSM4696453 c.1662C>A p.V554V Substitution - coding silent 23:117899214-117899214 - CCK81 COSM2722881 c.848G>T p.R283L Substitution - Missense 23:117909819-117909819 - Gp5D COSM2722893 c.590T>C p.V197A Substitution - Missense 23:117910077-117910077 - 824_T COSM3964612 c.1368C>T p.P456P Substitution - coding silent 23:117901945-117901945 - I2L-P19Tb-Tumor-Organoid COSM3913246 c.151G>A p.E51K Substitution - Missense 23:117945523-117945523 - D28 COSM3557106 c.1201G>A p.D401N Substitution - Missense 23:117909466-117909466 - TCGA-D1-A17U-01 COSM1113596 c.1263G>C p.W421C Substitution - Missense 23:117909404-117909404 - TCGA-EE-A2MK-06 COSM3557114 c.561C>T p.L187L Substitution - coding silent 23:117919530-117919530 - 2492724 COSM5725221 c.1503C>T p.F501F Substitution - coding silent 23:117899373-117899373 - TCGA-GF-A6C8-06 COSM3913239 c.1812G>A p.E604E Substitution - coding silent 23:117899064-117899064 - TCGA-EE-A3AF-06 COSM1682829 c.1954C>T p.L652F Substitution - Missense 23:117898922-117898922 - TCGA-EE-A2GD-06 COSM3557113 c.699G>A p.L233L Substitution - coding silent 23:117909968-117909968 - 585267 COSM321275 c.1159A>G p.I387V Substitution - Missense 23:117909508-117909508 - BD72T COSM5513854 c.149G>A p.S50N Substitution - Missense 23:117945525-117945525 - TCGA-EJ-5511-01 COSM1132416 c.475C>G p.L159V Substitution - Missense 23:117919616-117919616 - TCGA-A5-A0VP-01 COSM1113600 c.769C>T p.L257F Substitution - Missense 23:117909898-117909898 - TCGA-B0-5712-01 COSM1497190 c.1288A>G p.K430E Substitution - Missense 23:117909379-117909379 - Pat_41_B COSM3913242 c.670C>T p.P224S Substitution - Missense 23:117909997-117909997 - TCGA-A8-A0A6-01 COSM3843299 c.1702A>C p.T568P Substitution - Missense 23:117899174-117899174 - TCGA-BG-A0VZ-01 COSM1113591 c.1746C>T p.V582V Substitution - coding silent 23:117899130-117899130 - C089 COSM3557102 c.1484G>A p.G495E Substitution - Missense 23:117899392-117899392 - TCGA-A3-3374-01 COSM1497189 c.911C>A p.T304N Substitution - Missense 23:117909756-117909756 - TCGA-EE-A17X-06 COSM3557123 c.139C>T p.L47F Substitution - Missense 23:117945535-117945535 - TCGA-D9-A1JW-06 COSM227183 c.1112C>T p.S371L Substitution - Missense 23:117909555-117909555 - 52 COSM5734759 c.1735G>C p.D579H Substitution - Missense 23:117899141-117899141 - TCGA-BH-A0AV-01 COSM456558 c.1529C>G p.P510R Substitution - Missense 23:117899347-117899347 - B109 COSM1756351 c.88C>T p.P30S Substitution - Missense 23:117972741-117972741 - TCGA-D3-A3C8-06 COSM3557122 c.349G>A p.D117N Substitution - Missense 23:117920262-117920262 - Gp2D COSM2722893 c.590T>C p.V197A Substitution - Missense 23:117910077-117910077 - CSCC-27-T COSM4572062 c.623T>C p.L208P Substitution - Missense 23:117910044-117910044 - Au1 COSM3557099 c.1834G>A p.D612N Substitution - Missense 23:117899042-117899042 - TCGA-BH-A2L8-01 COSM3843300 c.357C>G p.F119L Substitution - Missense 23:117920254-117920254 - TCGA-DU-6404-01 COSM3973155 c.655G>A p.V219I Substitution - Missense 23:117910012-117910012 - C086 COSM5533462 c.448G>A p.D150N Substitution - Missense 23:117919643-117919643 - PT37 COSM5921932 c.608C>T p.A203V Substitution - Missense 23:117910059-117910059 - TCGA-GF-A6C9-06 COSM4902061 c.1568C>T p.T523I Substitution - Missense 23:117899308-117899308 - 2492725 COSM5725221 c.1503C>T p.F501F Substitution - coding silent 23:117899373-117899373 - T3064 COSM4696457 c.1079G>A p.R360H Substitution - Missense 23:117909588-117909588 - 1T COSM106978 c.298G>A p.D100N Substitution - Missense 23:117920313-117920313 - S0094 COSM5884946 c.1403G>T p.W468L Substitution - Missense 23:117901910-117901910 - YUCROFT COSM230430 c.1211G>A p.G404E Substitution - Missense 23:117909456-117909456 - TCGA-EE-A3AG-06 COSM3557111 c.979G>A p.V327I Substitution - Missense 23:117909688-117909688 - TCGA-EE-A29R-06 COSM3557116 c.519C>T p.F173F Substitution - coding silent 23:117919572-117919572 - AOCS-166-1-2 COSM2722860 c.1930C>T p.P644S Substitution - Missense 23:117898946-117898946 - TCGA-BR-8286-01 COSM4106055 c.731T>G p.L244R Substitution - Missense 23:117909936-117909936 - Pat_11_A COSM230430 c.1211G>A p.G404E Substitution - Missense 23:117909456-117909456 - YURAY COSM3557122 c.349G>A p.D117N Substitution - Missense 23:117920262-117920262 - TCGA-CD-A48C-01 COSM4106063 c.192A>C p.G64G Substitution - coding silent 23:117945482-117945482 - TCGA-GF-A6C9-06 COSM230430 c.1211G>A p.G404E Substitution - Missense 23:117909456-117909456 - ME009T COSM224137 c.1132C>A p.P378T Substitution - Missense 23:117909535-117909535 - TCGA-AX-A0J0-01 COSM1113597 c.1165A>C p.N389H Substitution - Missense 23:117909502-117909502 - YUGURT COSM3557124 c.129G>A p.M43I Substitution - Missense 23:117945545-117945545 - TCGA-AZ-4315-01 COSM1465105 c.1471T>C p.Y491H Substitution - Missense 23:117901842-117901842 - TCGA-GN-A26C-01 COSM3557116 c.519C>T p.F173F Substitution - coding silent 23:117919572-117919572 - MDA-MB-435 COSM1682829 c.1954C>T p.L652F Substitution - Missense 23:117898922-117898922 - BN33 COSM1625431 c.1762A>G p.K588E Substitution - Missense 23:117899114-117899114 - TCGA-D8-A1JG-01 COSM1490390 c.485A>G p.D162G Substitution - Missense 23:117919606-117919606 - YUFLA COSM230430 c.1211G>A p.G404E Substitution - Missense 23:117909456-117909456 - YULAN COSM1715451 c.157G>A p.G53S Substitution - Missense 23:117945517-117945517 - TCGA-CH-5788-01 COSM1132417 c.1021C>A p.H341N Substitution - Missense 23:117909646-117909646 - J10_T COSM3964614 c.1134A>G p.P378P Substitution - coding silent 23:117909533-117909533 - YURUS COSM1715453 c.115G>A p.E39K Substitution - Missense 23:117945559-117945559 - TCGA-D1-A16Q-01 COSM1113592 c.1741G>T p.G581W Substitution - Missense 23:117899135-117899135 - TCGA-B5-A11E-01 COSM1113602 c.628G>A p.E210K Substitution - Missense 23:117910039-117910039 - TCGA-AX-A05Z-01 COSM1113602 c.628G>A p.E210K Substitution - Missense 23:117910039-117910039 - TCGA-BF-A1Q0-01 COSM3557120 c.438G>A p.R146R Substitution - coding silent 23:117919653-117919653 - S01864 COSM5671917 c.1666A>T p.S556C Substitution - Missense 23:117899210-117899210 - TCGA-EE-A2GC-06 COSM1113602 c.628G>A p.E210K Substitution - Missense 23:117910039-117910039 - TCGA-04-1369-01 COSM1331326 c.296G>T p.G99V Substitution - Missense 23:117920315-117920315 - TCGA-HT-7601-01 COSM3973153 c.1927A>C p.T643P Substitution - Missense 23:117898949-117898949 - TCGA-AN-A046-01 COSM1113602 c.628G>A p.E210K Substitution - Missense 23:117910039-117910039 - 2530678 COSM3913246 c.151G>A p.E51K Substitution - Missense 23:117945523-117945523 - TCGA-EE-A29D-06 COSM3557102 c.1484G>A p.G495E Substitution - Missense 23:117899392-117899392 - TCGA-BR-A4J1-01 COSM4106047 c.1870G>T p.E624* Substitution - Nonsense 23:117899006-117899006 - 587376 COSM1212612 c.1092A>C p.E364D Substitution - Missense 23:117909575-117909575 - PD2127a COSM51901 c.667T>A p.F223I Substitution - Missense 23:117910000-117910000 - Gp2D COSM2722891 c.640T>A p.Y214N Substitution - Missense 23:117910027-117910027 - CSCC-32-T COSM4475081 c.1952C>T p.P651L Substitution - Missense 23:117898924-117898924 - TCGA-BR-4253-01 COSM4106061 c.341C>G p.S114C Substitution - Missense 23:117920270-117920270 - LUAD-YINHD COSM388619 c.1888C>T p.R630C Substitution - Missense 23:117898988-117898988 - BRC39 COSM2722883 c.796C>T p.R266C Substitution - Missense 23:117909871-117909871 - TCGA-C4-A0EZ-01 COSM422259 c.446T>C p.I149T Substitution - Missense 23:117919645-117919645 - I2L-P19Tb-Tumor-Biopsy COSM3913246 c.151G>A p.E51K Substitution - Missense 23:117945523-117945523 - TCGA-AP-A056-01 COSM1113593 c.1551G>T p.Q517H Substitution - Missense 23:117899325-117899325 - TCGA-AX-A0J0-01 COSM1113594 c.1367-1G>T p.? Unknown 23:117901947-117901947 - TCGA-GN-A266-06 COSM3913242 c.670C>T p.P224S Substitution - Missense 23:117909997-117909997 - TCGA-GN-A26C-01 COSM3557100 c.1690C>T p.L564F Substitution - Missense 23:117899186-117899186 - T578 COSM4696461 c.341C>A p.S114Y Substitution - Missense 23:117920270-117920270 - PT33 COSM5910025 c.1366+3A>G p.? Unknown 23:117909298-117909298 - ME049T COSM230430 c.1211G>A p.G404E Substitution - Missense 23:117909456-117909456 - TCGA-FW-A3R5-06 COSM227183 c.1112C>T p.S371L Substitution - Missense 23:117909555-117909555 - T3091 COSM4696453 c.1662C>A p.V554V Substitution - coding silent 23:117899214-117899214 - TCGA-EE-A182-06 COSM1715454 c.109G>A p.E37K Substitution - Missense 23:117945565-117945565 - TCGA-EI-6917-01 COSM3424371 c.1642A>G p.T548A Substitution - Missense 23:117899234-117899234 - TCGA-EE-A29D-06 COSM3557105 c.1441C>T p.H481Y Substitution - Missense 23:117901872-117901872 - RK108_C01 COSM1636350 c.792G>T p.W264C Substitution - Missense 23:117909875-117909875 - YUGURT COSM5411835 c.1756G>A p.E586K Substitution - Missense 23:117899120-117899120 - TCGA-AP-A0LF-01 COSM1113605 c.375T>A p.G125G Substitution - coding silent 23:117919716-117919716 - TCGA-FS-A1Z3-06 COSM3557124 c.129G>A p.M43I Substitution - Missense 23:117945545-117945545 - TCGA-GF-A6C9-06 COSM4903735 c.1367-1G>A p.? Unknown 23:117901947-117901947 - 16461 COSM5617511 c.282G>C p.V94V Substitution - coding silent 23:117920329-117920329 - TCGA-06-0878 COSM2152227 c.335T>A p.M112K Substitution - Missense 23:117920276-117920276 - TCGA-EE-A3AE-06 COSM230430 c.1211G>A p.G404E Substitution - Missense 23:117909456-117909456 - 4_PRE-TREATMENT COSM1724087 c.1367-6delT p.? Unknown 23:117901952-117901952 - YULOVY COSM1686335 c.1262G>A p.W421* Substitution - Nonsense 23:117909405-117909405 - TCGA-D9-A149-06 COSM3557108 c.1102G>A p.E368K Substitution - Missense 23:117909565-117909565 - TCGA-02-0003-01 COSM3405866 c.1369A>G p.T457A Substitution - Missense 23:117901944-117901944 - QC2-25-T2 COSM5653428 c.1188A>G p.G396G Substitution - coding silent 23:117909479-117909479 - YUMOKI COSM5411839 c.837G>A p.M279I Substitution - Missense 23:117909830-117909830 - TCGA-CK-4950-01 COSM1465112 c.525G>T p.Q175H Substitution - Missense 23:117919566-117919566 - TCGA-D3-A51T-06 COSM1113602 c.628G>A p.E210K Substitution - Missense 23:117910039-117910039 - TCGA-06-0122-01 COSM2149252 c.1661T>A p.V554D Substitution - Missense 23:117899215-117899215 - TCGA-BR-A4QL-01 COSM4106051 c.1291C>T p.R431C Substitution - Missense 23:117909376-117909376 - Pat_11_B COSM230430 c.1211G>A p.G404E Substitution - Missense 23:117909456-117909456 - T2991 COSM4696459 c.711T>A p.F237L Substitution - Missense 23:117909956-117909956 - Pat_76_A COSM3913246 c.151G>A p.E51K Substitution - Missense 23:117945523-117945523 - TCGA-EE-A29B-06 COSM3557097 c.1912C>T p.P638S Substitution - Missense 23:117898964-117898964 - TCGA-CG-5723-01 COSM4106053 c.847C>T p.R283* Substitution - Nonsense 23:117909820-117909820 - S0093 COSM5884946 c.1403G>T p.W468L Substitution - Missense 23:117901910-117901910 - TCGA-EE-A29N-06 COSM3557109 c.1087G>A p.D363N Substitution - Missense 23:117909580-117909580 - TCGA-GF-A6C9-06 COSM4900852 c.1327C>T p.L443L Substitution - coding silent 23:117909340-117909340 - TCGA-D1-A17Q-01 COSM1113601 c.699G>T p.L233F Substitution - Missense 23:117909968-117909968 - CSCC-49-T COSM4468281 c.1527C>T p.D509D Substitution - coding silent 23:117899349-117899349 - TCGA-23-2649-01 COSM1331327 c.1440C>T p.G480G Substitution - coding silent 23:117901873-117901873 - D01 COSM5543972 c.1810G>A p.E604K Substitution - Missense 23:117899066-117899066 - B109-Tumor COSM1756351 c.88C>T p.P30S Substitution - Missense 23:117972741-117972741 - TCGA-EJ-A65M-01 COSM4392412 c.1747G>A p.A583T Substitution - Missense 23:117899129-117899129 - HT115 COSM2722872 c.1600G>A p.G534R Substitution - Missense 23:117899276-117899276 - LUAD-CHTN-MAD06-00668 COSM360652 c.7T>C p.L3L Substitution - coding silent 23:117972822-117972822 - SA018 COSM212938 c.1556C>T p.A519V Substitution - Missense 23:117899320-117899320 - M14 COSM1682829 c.1954C>T p.L652F Substitution - Missense 23:117898922-117898922 - T3021 COSM4696455 c.1341T>C p.G447G Substitution - coding silent 23:117909326-117909326 - EV007-R9 COSM3913242 c.670C>T p.P224S Substitution - Missense 23:117909997-117909997 - PD4006a COSM219371 c.101C>A p.S34Y Substitution - Missense 23:117945573-117945573 -

Mutation - CGAP UNIGENE CYTOBAND OMIM SNP Hs.348256;Hs.348262 Xq23-q24 300655

Mutation - IntOGen Mutated from(ref) Mutated to(alt) Consequence Type AA Mutation CDS Mutation Chr Pos Cancer A C IntronicSNV . c.580-104T>G X 117044163 CLL A G Missense p.F122L c.364T>C X 117054219 STAD A G Missense p.I152T c.455T>C X 117053608 BLCA A G Synonymous p.P68P c.204T>C X 117079442 UCEC A T Missense p.D514E c.1542T>A X 117033306 CM A T Missense p.M115K c.344T>A X 117054239 GBM A T Missense p.V557D c.1670T>A X 117033178 GBM A T Missense p.W372R c.1114T>A X 117043525 GBM A T Synonymous p.G128G c.384T>A X 117053679 UCEC C A Missense p.G537V c.1610G>T X 117033238 HNSC C A Missense p.G596W c.1786G>T X 117033062 STAD C A Missense p.V606L c.1816G>T X 117033032 HC C A Missense p.W267C c.801G>T X 117043838 HC C A Missense p.W518C c.1554G>T X 117033294 LUSC C A Nonsense p.E432* c.1294G>T X 117043345 UCEC C A Nonsense p.G444* c.1330G>T X 117043309 COREAD C A SpliceAcceptorSNV . c.250-1G>T X 117054334 BLCA C G IntronicSNV . c.41+719G>C X 117118484 CLL C G Missense p.W424C c.1272G>C X 117043367 UCEC C G SpliceAcceptorSNV . c.108-1G>C X 117079539 LUAD C G Synonymous p.V97V c.291G>C X 117054292 NSCLC C T IntronicSNV . c.107+10581G>A X 117106862 CM C T Missense p.A586T c.1756G>A X 117033092 PRAD C T Missense p.D120N c.358G>A X 117054225 CM C T Missense p.D366N c.1096G>A X 117043543 CM C T Missense p.D615N c.1843G>A X 117033005 CM C T Missense p.E213K c.637G>A X 117044002 CM C T Missense p.E371K c.1111G>A X 117043528 CM C T Missense p.E40K c.118G>A X 117079528 CM C T Missense p.E589K c.1765G>A X 117033083 CM C T Missense p.G350E c.1049G>A X 117043590 CM C T Missense p.G391E c.1172G>A X 117043467 CM C T Missense p.G391R c.1171G>A X 117043468 LUAD C T Missense p.G407E c.1220G>A X 117043419 CM C T Missense p.G537R c.1609G>A X 117033239 CM C T Missense p.M164I c.492G>A X 117053571 CM C T Missense p.M46I c.138G>A X 117079508 CM C T Missense p.R149K c.446G>A X 117053617 CM C T Missense p.R286Q c.857G>A X 117043782 CM C T Missense p.R420Q c.1259G>A X 117043380 CM C T Missense p.R603H c.1808G>A X 117033040 STAD C T Missense p.V222I c.664G>A X 117043975 LGG C T Missense p.V330I c.988G>A X 117043651 CM C T Synonymous p.K224K c.672G>A X 117043967 CM C T Synonymous p.L236L c.708G>A X 117043931 CM C T Synonymous p.R149R c.447G>A X 117053616 CM C T Synonymous p.T301T c.903G>A X 117043736 GBM G A 3-UTRSNV . c.1974+71C>T X 117032803 CM G A IntronicSNV . c.107+10696C>T X 117106747 CM G A Missense p.A522V c.1565C>T X 117033283 BRCA G A Missense p.L260F c.778C>T X 117043861 UCEC G A Missense p.L50F c.148C>T X 117079498 CM G A Missense p.L540F c.1618C>T X 117033230 NSCLC G A Missense p.L567F c.1699C>T X 117033149 CM G A Missense p.L655F c.1963C>T X 117032885 CM G A Missense p.P288S c.862C>T X 117043777 CM G A Missense p.P480L c.1439C>T X 117035846 BRCA G A Missense p.P641S c.1921C>T X 117032927 CM G A Missense p.R269C c.805C>T X 117043834 BRCA G A Missense p.R633C c.1897C>T X 117032951 CM G A Missense p.S374L c.1121C>T X 117043518 CM G A Missense p.S49F c.146C>T X 117079500 CM G A Missense p.S628F c.1883C>T X 117032965 CM G A Missense p.T212I c.635C>T X 117044004 CM G A Missense p.T525I c.1574C>T X 117033274 CM G A Nonsense p.Q332* c.994C>T X 117043645 HNSC G A Nonsense p.R420* c.1258C>T X 117043381 LUAD G A Synonymous p.F176F c.528C>T X 117053535 CM G A Synonymous p.F221F c.663C>T X 117043976 CM G A Synonymous p.I519I c.1557C>T X 117033291 CM G A Synonymous p.L190L c.570C>T X 117053493 CM G A Synonymous p.L238L c.714C>T X 117043925 CM G A Synonymous p.L38L c.114C>T X 117079532 CM G A Synonymous p.T264T c.792C>T X 117043847 CM G A Synonymous p.V146V c.438C>T X 117053625 THCA G A Synonymous p.V414V c.1242C>T X 117043397 CM G A Synonymous p.V585V c.1755C>T X 117033093 UCEC G C Missense p.H438Q c.1314C>G X 117043325 COREAD G C Missense p.L162V c.484C>G X 117053579 PRAD G C Missense p.P513R c.1538C>G X 117033310 BRCA G C Missense p.S117C c.350C>G X 117054233 STAD G C Missense p.S161C c.482C>G X 117053581 BLCA G C Synonymous p.V414V c.1242C>G X 117043397 HNSC G T Missense p.H344N c.1030C>A X 117043609 PRAD G T Missense p.P381T c.1141C>A X 117043498 CM G T Missense p.P68T c.202C>A X 117079444 LUAD G T Missense p.Q505K c.1513C>A X 117033335 LUAD G T Missense p.Q87K c.259C>A X 117054324 BRCA T A IntronicSNV . c.108-62A>T X 117079600 CM T A Nonsense p.K150* c.448A>T X 117053615 CM T A Synonymous p.G490G c.1470A>T X 117035815 CM T C IntronicSNV . c.107+10748A>G X 117106695 CM T C IntronicSNV . c.580-1447A>G X 117045506 CLL T C Missense p.D165G c.494A>G X 117053569 BRCA T C Missense p.E241G c.722A>G X 117043917 CM T C Missense p.I390V c.1168A>G X 117043471 SCLC T C Missense p.K283R c.848A>G X 117043791 CM T C Missense p.Q168R c.503A>G X 117053560 CM T C Missense p.S401G c.1201A>G X 117043438 CM T C Missense p.S74G c.220A>G X 117079426 HNSC T C Missense p.T460A c.1378A>G X 117035907 GBM T C Missense p.T98A c.292A>G X 117054291 UCEC T C Missense p.Y395C c.1184A>G X 117043455 LUAD T C Synonymous p.Q505Q c.1515A>G X 117033333 LUAD T - Frameshift p.K621Rfs*63 c.1862delA X 117032986 RCCC T G Missense p.T127P c.379A>C X 117054204 CM T G Missense p.T646P c.1936A>C X 117032912 LGG