Mutation - TCGA Type Chromosome Start Position End Position Strand Variant Classification Variant Type Reference Allele Tumor_seq Allele 1 Tumor_seq Allele 2 Tumor Sample Barcode Matched Norm Sample Barcode Genome Change cDNA Change Codon Change Protein Change BLCA 5 145317639 145317639 + Missense_Mutation SNP C C T TCGA-G2-A3IE-01A-11D-A20D-08 TCGA-G2-A3IE-10A-01D-A20D-08 g.chr5:145317639C>T c.148C>T c.(148-150)Ccc>Tcc p.P50S BLCA 5 145383695 145383695 + Silent SNP C C T TCGA-LC-A66R-01A-41D-A30E-08 TCGA-LC-A66R-10A-01D-A30H-08 g.chr5:145383695C>T c.723C>T c.(721-723)atC>atT p.I241I BLCA 5 145393552 145393552 + Silent SNP C C T TCGA-DK-A3WW-01A-22D-A23M-08 TCGA-DK-A3WW-10A-01D-A23K-08 g.chr5:145393552C>T c.987C>T c.(985-987)atC>atT p.I329I BLCA 5 145393557 145393557 + Missense_Mutation SNP C C T TCGA-FD-A43P-01A-31D-A23U-08 TCGA-FD-A43P-10A-01D-A23U-08 g.chr5:145393557C>T c.992C>T c.(991-993)tCc>tTc p.S331F BLCA 5 145428766 145428766 + Missense_Mutation SNP G G C TCGA-E7-A7DU-01A-11D-A32B-08 TCGA-E7-A7DU-10A-01D-A329-08 g.chr5:145428766G>C c.1280G>C c.(1279-1281)cGa>cCa p.R427P BLCA 5 145435660 145435660 + Missense_Mutation SNP G G A TCGA-KQ-A41R-01A-21D-A34U-08 TCGA-KQ-A41R-10G-01D-A34X-08 g.chr5:145435660G>A c.1439G>A c.(1438-1440)cGt>cAt p.R480H BLCA 5 145439428 145439428 + Splice_Site SNP G G C TCGA-E7-A4IJ-01A-31D-A26M-08 TCGA-E7-A4IJ-10A-01D-A26K-08 g.chr5:145439428G>C c.e8-1 BLCA 5 145439781 145439781 + Silent SNP C C T TCGA-DK-A6AW-01A-11D-A30E-08 TCGA-DK-A6AW-10A-01D-A30H-08 g.chr5:145439781C>T c.1908C>T c.(1906-1908)atC>atT p.I636I BLCA 5 145442003 145442003 + Silent SNP G G T TCGA-DK-A3X1-01A-12D-A22Z-08 TCGA-DK-A3X1-10A-01D-A22Z-08 g.chr5:145442003G>T c.1929G>T c.(1927-1929)gtG>gtT p.V643V BRCA 5 145393577 145393577 + Missense_Mutation SNP A A C TCGA-A8-A0A6-01A-12W-A071-09 TCGA-A8-A0A6-10A-01W-A071-09 g.chr5:145393577A>C c.1012A>C c.(1012-1014)Acc>Ccc p.T338P CESC 5 145317770 145317770 + Silent SNP G G T TCGA-EA-A3HR-01A-11D-A20U-09 TCGA-EA-A3HR-10A-01D-A20U-09 g.chr5:145317770G>T c.279G>T c.(277-279)acG>acT p.T93T CESC 5 145379738 145379738 + Missense_Mutation SNP G G A TCGA-Q1-A73O-01A-11D-A32I-09 TCGA-Q1-A73O-10B-01D-A32I-09 g.chr5:145379738G>A c.496G>A c.(496-498)Gaa>Aaa p.E166K CESC 5 145379827 145379827 + Silent SNP C C G TCGA-EK-A2PG-01A-11D-A18J-09 TCGA-EK-A2PG-10A-01D-A18J-09 g.chr5:145379827C>G c.585C>G c.(583-585)ctC>ctG p.L195L CESC 5 145428792 145428792 + Missense_Mutation SNP G G A TCGA-C5-A7UE-01A-11D-A33O-09 TCGA-C5-A7UE-10A-01D-A33O-09 g.chr5:145428792G>A c.1306G>A c.(1306-1308)Gtc>Atc p.V436I CESC 5 145435737 145435737 + Missense_Mutation SNP C C A TCGA-DG-A2KK-01A-11D-A17W-09 TCGA-DG-A2KK-10A-01D-A17W-09 g.chr5:145435737C>A c.1516C>A c.(1516-1518)Caa>Aaa p.Q506K COAD 5 145379706 145379706 + Missense_Mutation SNP G G A TCGA-G4-6304-01A-11D-1924-10 TCGA-G4-6304-10A-01D-1924-10 g.chr5:145379706G>A c.464G>A c.(463-465)cGg>cAg p.R155Q COAD 5 145393500 145393500 + Missense_Mutation SNP T T C TCGA-AZ-4315-01A-01D-1408-10 TCGA-AZ-4315-10A-01D-1408-10 g.chr5:145393500T>C c.935T>C c.(934-936)gTc>gCc p.V312A COAD 5 145428791 145428791 + Silent SNP C C T TCGA-D5-6540-01A-11D-1719-10 TCGA-D5-6540-10A-01D-1719-10 g.chr5:145428791C>T c.1305C>T c.(1303-1305)taC>taT p.Y435Y COAD 5 145439569 145439569 + Missense_Mutation SNP G G A TCGA-CM-4743-01A-01D-1719-10 TCGA-CM-4743-10A-01D-1719-10 g.chr5:145439569G>A c.1696G>A c.(1696-1698)Gtg>Atg p.V566M COAD 5 145442061 145442061 + Nonsense_Mutation SNP G G T TCGA-CK-5915-01A-11D-1650-10 TCGA-CK-5915-10A-01D-1650-10 g.chr5:145442061G>T c.1987G>T c.(1987-1989)Gga>Tga p.G663* COAD 5 145442111 145442111 + Silent SNP G G A TCGA-D5-6926-01A-11D-1924-10 TCGA-D5-6926-10A-01D-1924-10 g.chr5:145442111G>A c.2037G>A c.(2035-2037)gcG>gcA p.A679A COADREAD 5 145379706 145379706 + Missense_Mutation SNP G G A TCGA-G4-6304-01A-11D-1924-10 TCGA-G4-6304-10A-01D-1924-10 g.chr5:145379706G>A c.464G>A c.(463-465)cGg>cAg p.R155Q COADREAD 5 145393500 145393500 + Missense_Mutation SNP T T C TCGA-AZ-4315-01A-01D-1408-10 TCGA-AZ-4315-10A-01D-1408-10 g.chr5:145393500T>C c.935T>C c.(934-936)gTc>gCc p.V312A COADREAD 5 145428791 145428791 + Silent SNP C C T TCGA-D5-6540-01A-11D-1719-10 TCGA-D5-6540-10A-01D-1719-10 g.chr5:145428791C>T c.1305C>T c.(1303-1305)taC>taT p.Y435Y COADREAD 5 145439569 145439569 + Missense_Mutation SNP G G A TCGA-CM-4743-01A-01D-1719-10 TCGA-CM-4743-10A-01D-1719-10 g.chr5:145439569G>A c.1696G>A c.(1696-1698)Gtg>Atg p.V566M COADREAD 5 145442061 145442061 + Nonsense_Mutation SNP G G T TCGA-CK-5915-01A-11D-1650-10 TCGA-CK-5915-10A-01D-1650-10 g.chr5:145442061G>T c.1987G>T c.(1987-1989)Gga>Tga p.G663* COADREAD 5 145442111 145442111 + Silent SNP G G A TCGA-D5-6926-01A-11D-1924-10 TCGA-D5-6926-10A-01D-1924-10 g.chr5:145442111G>A c.2037G>A c.(2035-2037)gcG>gcA p.A679A DLBC 5 145428733 145428733 + Missense_Mutation SNP G G C TCGA-GS-A9TZ-01A-11D-A38X-10 TCGA-GS-A9TZ-10A-01D-A38X-10 g.chr5:145428733G>C c.1247G>C c.(1246-1248)gGc>gCc p.G416A ESCA 5 145428710 145428710 + Silent SNP G G A TCGA-R6-A6DN-01B-11D-A31U-09 TCGA-R6-A6DN-10A-01D-A31U-09 g.chr5:145428710G>A c.1224G>A c.(1222-1224)agG>agA p.R408R ESCA 5 145439666 145439666 + Missense_Mutation SNP G G T TCGA-IG-A97H-01A-11D-A387-09 TCGA-IG-A97H-10A-01D-A38A-09 g.chr5:145439666G>T c.1793G>T c.(1792-1794)aGc>aTc p.S598I ESCA 5 145442018 145442018 + Silent SNP C C T TCGA-L5-A88Z-01A-11D-A36J-09 TCGA-L5-A88Z-11A-11D-A36M-09 g.chr5:145442018C>T c.1944C>T c.(1942-1944)taC>taT p.Y648Y ESCA 5 145442255 145442255 + Silent SNP C C A TCGA-XP-A8T8-01A-11D-A36J-09 TCGA-XP-A8T8-10A-01D-A36M-09 g.chr5:145442255C>A c.2181C>A c.(2179-2181)ccC>ccA p.P727P GBM 5 145393517 145393517 + Missense_Mutation SNP C C T TCGA-12-0618-01A-01D-1492-08 TCGA-12-0618-10A-01D-1492-08 g.chr5:145393517C>T c.952C>T c.(952-954)Cgc>Tgc p.R318C GBM 5 145393517 145393517 + Missense_Mutation SNP C C T TCGA-32-2638-01A-01D-1495-08 TCGA-32-2638-10A-01D-1495-08 g.chr5:145393517C>T c.952C>T c.(952-954)Cgc>Tgc p.R318C GBM 5 145393533 145393533 + Missense_Mutation SNP T T G TCGA-27-1838-01A-01D-1494-08 TCGA-27-1838-10A-01D-1494-08 g.chr5:145393533T>G c.968T>G c.(967-969)aTc>aGc p.I323S GBM 5 145393623 145393623 + Splice_Site SNP A A T TCGA-32-1991-01A-01D-1353-08 TCGA-32-1991-10C-01D-1353-08 g.chr5:145393623A>T c.1058A>T c.(1057-1059)cAg>cTg p.Q353L GBM 5 145428731 145428731 + Silent SNP C C T TCGA-32-2615-01A-01D-1495-08 TCGA-32-2615-10A-01D-1495-08 g.chr5:145428731C>T c.1245C>T c.(1243-1245)gaC>gaT p.D415D GBM 5 145435652 145435652 + Silent SNP G G A TCGA-19-4068-01A-01D-1353-08 TCGA-19-4068-10A-01D-1353-08 g.chr5:145435652G>A c.1431G>A c.(1429-1431)cgG>cgA p.R477R GBM 5 145439569 145439569 + Missense_Mutation SNP G G A TCGA-19-5947-01A-11D-1696-08 TCGA-19-5947-11A-01D-1696-08 g.chr5:145439569G>A c.1696G>A c.(1696-1698)Gtg>Atg p.V566M GBMLGG 5 145317698 145317698 + Silent SNP C C T TCGA-DU-6392-01A-11D-1705-08 TCGA-DU-6392-10A-01D-1705-08 g.chr5:145317698C>T c.207C>T c.(205-207)ctC>ctT p.L69L GBMLGG 5 145379666 145379666 + Missense_Mutation SNP G G A TCGA-E1-A7YN-01A-11D-A34A-08 TCGA-E1-A7YN-10A-01D-A34A-08 g.chr5:145379666G>A c.424G>A c.(424-426)Ggt>Agt p.G142S GBMLGG 5 145393444 145393444 + Silent SNP G G A TCGA-DU-8165-01A-11D-2253-08 TCGA-DU-8165-10A-01D-2253-08 g.chr5:145393444G>A c.879G>A c.(877-879)agG>agA p.R293R GBMLGG 5 145393517 145393517 + Missense_Mutation SNP C C T TCGA-12-0618-01A-01D-1492-08 TCGA-12-0618-10A-01D-1492-08 g.chr5:145393517C>T c.952C>T c.(952-954)Cgc>Tgc p.R318C GBMLGG 5 145393517 145393517 + Missense_Mutation SNP C C T TCGA-32-2638-01A-01D-1495-08 TCGA-32-2638-10A-01D-1495-08 g.chr5:145393517C>T c.952C>T c.(952-954)Cgc>Tgc p.R318C GBMLGG 5 145393533 145393533 + Missense_Mutation SNP T T G TCGA-27-1838-01A-01D-1494-08 TCGA-27-1838-10A-01D-1494-08 g.chr5:145393533T>G c.968T>G c.(967-969)aTc>aGc p.I323S GBMLGG 5 145393623 145393623 + Splice_Site SNP A A T TCGA-32-1991-01A-01D-1353-08 TCGA-32-1991-10C-01D-1353-08 g.chr5:145393623A>T c.1058A>T c.(1057-1059)cAg>cTg p.Q353L GBMLGG 5 145428731 145428731 + Silent SNP C C T TCGA-32-2615-01A-01D-1495-08 TCGA-32-2615-10A-01D-1495-08 g.chr5:145428731C>T c.1245C>T c.(1243-1245)gaC>gaT p.D415D GBMLGG 5 145435652 145435652 + Silent SNP G G A TCGA-19-4068-01A-01D-1353-08 TCGA-19-4068-10A-01D-1353-08 g.chr5:145435652G>A c.1431G>A c.(1429-1431)cgG>cgA p.R477R GBMLGG 5 145439569 145439569 + Missense_Mutation SNP G G A TCGA-19-5947-01A-11D-1696-08 TCGA-19-5947-11A-01D-1696-08 g.chr5:145439569G>A c.1696G>A c.(1696-1698)Gtg>Atg p.V566M GBMLGG 5 145439660 145439660 + Missense_Mutation SNP C C T TCGA-DU-6392-01A-11D-1705-08 TCGA-DU-6392-10A-01D-1705-08 g.chr5:145439660C>T c.1787C>T c.(1786-1788)gCg>gTg p.A596V HNSC 5 145379752 145379752 + Silent SNP C C T TCGA-BA-5558-01A-01D-1512-08 TCGA-BA-5558-10A-01D-1512-08 g.chr5:145379752C>T c.510C>T c.(508-510)atC>atT p.I170I HNSC 5 145379827 145379827 + Silent SNP C C G TCGA-CV-5435-01A-01D-1683-08 TCGA-CV-5435-10A-01D-1870-08 g.chr5:145379827C>G c.585C>G c.(583-585)ctC>ctG p.L195L HNSC 5 145393619 145393619 + Missense_Mutation SNP G G C TCGA-QK-A8Z8-01A-11D-A391-08 TCGA-QK-A8Z8-10A-01D-A394-08 g.chr5:145393619G>C c.1054G>C c.(1054-1056)Gga>Cga p.G352R HNSC 5 145439428 145439428 + Splice_Site SNP G G A TCGA-CV-7568-01A-11D-2229-08 TCGA-CV-7568-10A-01D-2229-08 g.chr5:145439428G>A c.e8-1 HNSC 5 145439539 145439539 + Missense_Mutation SNP C C G TCGA-F7-8489-01A-31D-2394-08 TCGA-F7-8489-10A-01D-2394-08 g.chr5:145439539C>G c.1666C>G c.(1666-1668)Cca>Gca p.P556A HNSC 5 145439601 145439601 + Silent SNP C C T TCGA-CR-7374-01A-11D-2012-08 TCGA-CR-7374-10A-01D-2013-08 g.chr5:145439601C>T c.1728C>T c.(1726-1728)ctC>ctT p.L576L HNSC 5 145442148 145442148 + Nonsense_Mutation SNP C C T TCGA-BA-A6DE-01A-22D-A31L-08 TCGA-BA-A6DE-10A-01D-A31J-08 g.chr5:145442148C>T c.2074C>T c.(2074-2076)Cga>Tga p.R692* KICH 5 145428792 145428792 + Missense_Mutation SNP G G A TCGA-KN-8428-01A-11D-2310-10 TCGA-KN-8428-11A-01D-2311-10 g.chr5:145428792G>A c.1306G>A c.(1306-1308)Gtc>Atc p.V436I KIPAN 5 145428752 145428752 + Silent SNP C C T TCGA-BP-4176-01A-02D-1366-10 TCGA-BP-4176-11A-01D-1366-10 g.chr5:145428752C>T c.1266C>T c.(1264-1266)tcC>tcT p.S422S KIPAN 5 145428792 145428792 + Missense_Mutation SNP G G A TCGA-KN-8428-01A-11D-2310-10 TCGA-KN-8428-11A-01D-2311-10 g.chr5:145428792G>A c.1306G>A c.(1306-1308)Gtc>Atc p.V436I KIRC 5 145428752 145428752 + Silent SNP C C T TCGA-BP-4176-01A-02D-1366-10 TCGA-BP-4176-11A-01D-1366-10 g.chr5:145428752C>T c.1266C>T c.(1264-1266)tcC>tcT p.S422S LGG 5 145317698 145317698 + Silent SNP C C T TCGA-DU-6392-01A-11D-1705-08 TCGA-DU-6392-10A-01D-1705-08 g.chr5:145317698C>T c.207C>T c.(205-207)ctC>ctT p.L69L LGG 5 145379666 145379666 + Missense_Mutation SNP G G A TCGA-E1-A7YN-01A-11D-A34A-08 TCGA-E1-A7YN-10A-01D-A34A-08 g.chr5:145379666G>A c.424G>A c.(424-426)Ggt>Agt p.G142S LGG 5 145393444 145393444 + Silent SNP G G A TCGA-DU-8165-01A-11D-2253-08 TCGA-DU-8165-10A-01D-2253-08 g.chr5:145393444G>A c.879G>A c.(877-879)agG>agA p.R293R LGG 5 145439660 145439660 + Missense_Mutation SNP C C T TCGA-DU-6392-01A-11D-1705-08 TCGA-DU-6392-10A-01D-1705-08 g.chr5:145439660C>T c.1787C>T c.(1786-1788)gCg>gTg p.A596V LIHC 5 145435595 145435595 + Nonsense_Mutation SNP G G A TCGA-ZP-A9CV-01A-11D-A382-10 TCGA-ZP-A9CV-10B-01D-A385-10 g.chr5:145435595G>A c.1374G>A c.(1372-1374)tgG>tgA p.W458* LIHC 5 145439465 145439465 + Missense_Mutation SNP C C T TCGA-DD-AAEE-01A-11D-A40R-10 TCGA-DD-AAEE-10A-01D-A40U-10 g.chr5:145439465C>T c.1592C>T c.(1591-1593)cCc>cTc p.P531L LUAD 5 145379663 145379663 + Missense_Mutation SNP C C A TCGA-69-A59K-01A-11D-A25L-08 TCGA-69-A59K-10A-01D-A25L-08 g.chr5:145379663C>A c.421C>A c.(421-423)Ccc>Acc p.P141T LUAD 5 145379836 145379836 + Silent SNP C C T TCGA-55-8507-01A-11D-2393-08 TCGA-55-8507-10A-01D-2393-08 g.chr5:145379836C>T c.594C>T c.(592-594)ttC>ttT p.F198F LUAD 5 145393375 145393375 + Missense_Mutation SNP C C G TCGA-44-8119-01A-11D-2238-08 TCGA-44-8119-10A-01D-2238-08 g.chr5:145393375C>G c.810C>G c.(808-810)aaC>aaG p.N270K LUAD 5 145435703 145435703 + Silent SNP C C G TCGA-86-A4JF-01A-11D-A24P-08 TCGA-86-A4JF-10A-01D-A24P-08 g.chr5:145435703C>G c.1482C>G c.(1480-1482)ccC>ccG p.P494P LUAD 5 145435760 145435760 + Silent SNP G G T TCGA-97-7546-01A-11D-2036-08 TCGA-97-7546-10A-01D-2036-08 g.chr5:145435760G>T c.1539G>T c.(1537-1539)cgG>cgT p.R513R LUAD 5 145439754 145439754 + Silent SNP G G A TCGA-78-7156-01A-11D-2036-08 TCGA-78-7156-10A-01D-2036-08 g.chr5:145439754G>A c.1881G>A c.(1879-1881)gtG>gtA p.V627V LUSC 5 145383661 145383661 + Nonsense_Mutation SNP G G A TCGA-18-3409-01A-01D-0983-08 TCGA-18-3409-11A-01D-0983-08 g.chr5:145383661G>A c.689G>A c.(688-690)tGg>tAg p.W230* LUSC 5 145383666 145383666 + Missense_Mutation SNP G G A TCGA-22-4601-01A-01D-1441-08 TCGA-22-4601-11A-01D-1441-08 g.chr5:145383666G>A c.694G>A c.(694-696)Gaa>Aaa p.E232K LUSC 5 145393529 145393529 + Missense_Mutation SNP G G A TCGA-18-3415-01A-01D-0983-08 TCGA-18-3415-11A-01D-0983-08 g.chr5:145393529G>A c.964G>A c.(964-966)Gag>Aag p.E322K LUSC 5 145428766 145428766 + Missense_Mutation SNP G G T TCGA-46-3765-01A-01D-0983-08 TCGA-46-3765-10A-01D-0983-08 g.chr5:145428766G>T c.1280G>T c.(1279-1281)cGa>cTa p.R427L LUSC 5 145435759 145435759 + Missense_Mutation SNP G G A TCGA-46-6026-01A-11D-1817-08 TCGA-46-6026-10A-01D-1817-08 g.chr5:145435759G>A c.1538G>A c.(1537-1539)cGg>cAg p.R513Q LUSC 5 145439472 145439472 + Silent SNP C C T TCGA-22-5471-01A-01D-1632-08 TCGA-22-5471-11A-01D-1632-08 g.chr5:145439472C>T c.1599C>T c.(1597-1599)ctC>ctT p.L533L LUSC 5 145439657 145439657 + Missense_Mutation SNP C C T TCGA-34-2596-01A-01D-1522-08 TCGA-34-2596-11A-01D-1522-08 g.chr5:145439657C>T c.1784C>T c.(1783-1785)tCc>tTc p.S595F OV 5 145442061 145442061 + Missense_Mutation SNP G G A TCGA-13-0912-01A-01W-0421-09 TCGA-13-0912-10A-01W-0421-09 g.chr5:145442061G>A c.1987G>A c.(1987-1989)Gga>Aga p.G663R PAAD 5 145393591 145393591 + Silent SNP G G A TCGA-IB-7651-01A-11D-2154-08 TCGA-IB-7651-10A-01D-2154-08 g.chr5:145393591G>A c.1026G>A c.(1024-1026)gaG>gaA p.E342E PAAD 5 145435652 145435652 + Silent SNP G G A TCGA-RB-A7B8-01A-12D-A33T-08 TCGA-RB-A7B8-10A-01D-A33W-08 g.chr5:145435652G>A c.1431G>A c.(1429-1431)cgG>cgA p.R477R PRAD 5 145442111 145442111 + Silent SNP G G A TCGA-V1-A9ZI-01A-11D-A41K-08 TCGA-V1-A9ZI-10A-01D-A41N-08 g.chr5:145442111G>A c.2037G>A c.(2035-2037)gcG>gcA p.A679A SARC 5 145428732 145428732 + Missense_Mutation SNP G G T TCGA-PC-A5DN-01A-12D-A27P-09 TCGA-PC-A5DN-10A-01D-A27P-09 g.chr5:145428732G>T c.1246G>T c.(1246-1248)Ggc>Tgc p.G416C SARC 5 145439745 145439745 + Silent SNP C C T TCGA-QC-A7B5-01A-11D-A33E-09 TCGA-QC-A7B5-11A-11D-A33H-09 g.chr5:145439745C>T c.1872C>T c.(1870-1872)tcC>tcT p.S624S SKCM 5 145317513 145317513 + Missense_Mutation SNP G G A TCGA-EB-A5SG-06A-11D-A30X-08 TCGA-EB-A5SG-10A-01D-A30X-08 g.chr5:145317513G>A c.22G>A c.(22-24)Gat>Aat p.D8N SKCM 5 145317664 145317664 + Missense_Mutation SNP C C T TCGA-GN-A26A-06A-11D-A19A-08 TCGA-GN-A26A-10A-01D-A19A-08 g.chr5:145317664C>T c.173C>T c.(172-174)tCc>tTc p.S58F SKCM 5 145317863 145317863 + Missense_Mutation SNP G G A TCGA-D3-A5GO-06A-12D-A27K-08 TCGA-D3-A5GO-10A-01D-A27N-08 g.chr5:145317863G>A c.372G>A c.(370-372)atG>atA p.M124I SKCM 5 145379676 145379676 + Missense_Mutation SNP G G A TCGA-EE-A3AF-06A-11D-A196-08 TCGA-EE-A3AF-10A-01D-A198-08 g.chr5:145379676G>A c.434G>A c.(433-435)aGg>aAg p.R145K SKCM 5 145379706 145379706 + Missense_Mutation SNP G G A TCGA-EE-A29Q-06A-11D-A197-08 TCGA-EE-A29Q-10A-01D-A199-08 g.chr5:145379706G>A c.464G>A c.(463-465)cGg>cAg p.R155Q SKCM 5 145379722 145379722 + Silent SNP G G A TCGA-FW-A3R5-06A-11D-A23B-08 TCGA-FW-A3R5-10A-01D-A23B-08 g.chr5:145379722G>A c.480G>A c.(478-480)gaG>gaA p.E160E SKCM 5 145379738 145379738 + Missense_Mutation SNP G G A TCGA-EE-A2M5-06A-12D-A197-08 TCGA-EE-A2M5-10A-01D-A199-08 g.chr5:145379738G>A c.496G>A c.(496-498)Gaa>Aaa p.E166K SKCM 5 145379738 145379738 + Missense_Mutation SNP G G A TCGA-ER-A42L-06A-11D-A24R-08 TCGA-ER-A42L-10A-01D-A24R-08 g.chr5:145379738G>A c.496G>A c.(496-498)Gaa>Aaa p.E166K SKCM 5 145379788 145379788 + Silent SNP C C T TCGA-ER-A19C-06A-11D-A196-08 TCGA-ER-A19C-10A-01D-A198-08 g.chr5:145379788C>T c.546C>T c.(544-546)atC>atT p.I182I SKCM 5 145379844 145379844 + Missense_Mutation SNP G G A TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 g.chr5:145379844G>A c.602G>A c.(601-603)cGa>cAa p.R201Q SKCM 5 145383698 145383698 + Silent SNP C C T TCGA-EE-A2GC-06A-11D-A197-08 TCGA-EE-A2GC-10A-01D-A199-08 g.chr5:145383698C>T c.726C>T c.(724-726)ttC>ttT p.F242F SKCM 5 145393331 145393331 + Missense_Mutation SNP C C T TCGA-FW-A3R5-06A-11D-A23B-08 TCGA-FW-A3R5-10A-01D-A23B-08 g.chr5:145393331C>T c.766C>T c.(766-768)Ctt>Ttt p.L256F SKCM 5 145393349 145393349 + Missense_Mutation SNP G G A TCGA-D3-A51E-06A-11D-A25O-08 TCGA-D3-A51E-10A-01D-A25O-08 g.chr5:145393349G>A c.784G>A c.(784-786)Ggt>Agt p.G262S SKCM 5 145393427 145393427 + Missense_Mutation SNP G G A TCGA-EE-A3AA-06A-11D-A196-08 TCGA-EE-A3AA-10A-01D-A198-08 g.chr5:145393427G>A c.862G>A c.(862-864)Ggc>Agc p.G288S SKCM 5 145393464 145393464 + Missense_Mutation SNP C C T TCGA-EE-A29G-06A-12D-A196-08 TCGA-EE-A29G-10A-01D-A198-08 g.chr5:145393464C>T c.899C>T c.(898-900)tCc>tTc p.S300F SKCM 5 145393464 145393464 + Missense_Mutation SNP C C T TCGA-EE-A2MU-06A-21D-A196-08 TCGA-EE-A2MU-10A-01D-A198-08 g.chr5:145393464C>T c.899C>T c.(898-900)tCc>tTc p.S300F SKCM 5 145393464 145393464 + Missense_Mutation SNP C C T TCGA-GF-A6C9-06A-11D-A30X-08 TCGA-GF-A6C9-10A-01D-A30X-08 g.chr5:145393464C>T c.899C>T c.(898-900)tCc>tTc p.S300F SKCM 5 145393468 145393468 + Silent SNP C C T TCGA-EB-A5UN-06A-11D-A30X-08 TCGA-EB-A5UN-10A-01D-A30X-08 g.chr5:145393468C>T c.903C>T c.(901-903)atC>atT p.I301I SKCM 5 145393487 145393487 + Missense_Mutation SNP C C T TCGA-D3-A2JF-06A-11D-A196-08 TCGA-D3-A2JF-10A-01D-A198-08 g.chr5:145393487C>T c.922C>T c.(922-924)Ctc>Ttc p.L308F SKCM 5 145393487 145393487 + Missense_Mutation SNP C C T TCGA-EE-A3AD-06A-11D-A196-08 TCGA-EE-A3AD-10A-01D-A198-08 g.chr5:145393487C>T c.922C>T c.(922-924)Ctc>Ttc p.L308F SKCM 5 145393495 145393495 + Silent SNP G G A TCGA-EE-A20C-06A-11D-A196-08 TCGA-EE-A20C-10A-01D-A198-08 g.chr5:145393495G>A c.930G>A c.(928-930)cgG>cgA p.R310R SKCM 5 145393508 145393508 + Missense_Mutation SNP C C T TCGA-EE-A29L-06A-12D-A196-08 TCGA-EE-A29L-10A-01D-A198-08 g.chr5:145393508C>T c.943C>T c.(943-945)Cct>Tct p.P315S SKCM 5 145393509 145393509 + Missense_Mutation SNP C C T TCGA-EE-A3JD-06A-11D-A20D-08 TCGA-EE-A3JD-10A-01D-A20D-08 g.chr5:145393509C>T c.944C>T c.(943-945)cCt>cTt p.P315L SKCM 5 145393542 145393542 + Missense_Mutation SNP C C T TCGA-D3-A5GO-06A-12D-A27K-08 TCGA-D3-A5GO-10A-01D-A27N-08 g.chr5:145393542C>T c.977C>T c.(976-978)cCa>cTa p.P326L SKCM 5 145393604 145393604 + Missense_Mutation SNP C C T TCGA-EE-A2MJ-06A-11D-A197-08 TCGA-EE-A2MJ-10A-01D-A199-08 g.chr5:145393604C>T c.1039C>T c.(1039-1041)Cct>Tct p.P347S SKCM 5 145393605 145393605 + Missense_Mutation SNP C C T TCGA-D3-A1Q6-06A-11D-A196-08 TCGA-D3-A1Q6-10A-01D-A198-08 g.chr5:145393605C>T c.1040C>T c.(1039-1041)cCt>cTt p.P347L SKCM 5 145393608 145393608 + Missense_Mutation SNP C C T TCGA-D3-A2JH-06A-11D-A196-08 TCGA-D3-A2JH-10A-01D-A198-08 g.chr5:145393608C>T c.1043C>T c.(1042-1044)tCc>tTc p.S348F SKCM 5 145427372 145427372 + Missense_Mutation SNP A A C TCGA-EE-A2MF-06A-11D-A21A-08 TCGA-EE-A2MF-10B-01D-A21A-08 g.chr5:145427372A>C c.1097A>C c.(1096-1098)cAt>cCt p.H366P SKCM 5 145427402 145427402 + Missense_Mutation SNP C C T TCGA-FW-A3R5-06A-11D-A23B-08 TCGA-FW-A3R5-10A-01D-A23B-08 g.chr5:145427402C>T c.1127C>T c.(1126-1128)tCc>tTc p.S376F SKCM 5 145427421 145427421 + Silent SNP G G A TCGA-FW-A3R5-06A-11D-A23B-08 TCGA-FW-A3R5-10A-01D-A23B-08 g.chr5:145427421G>A c.1146G>A c.(1144-1146)gcG>gcA p.A382A SKCM 5 145428695 145428695 + Silent SNP G G A TCGA-EE-A20C-06A-11D-A196-08 TCGA-EE-A20C-10A-01D-A198-08 g.chr5:145428695G>A c.1209G>A c.(1207-1209)aaG>aaA p.K403K SKCM 5 145428696 145428696 + Missense_Mutation SNP G G A TCGA-EE-A20C-06A-11D-A196-08 TCGA-EE-A20C-10A-01D-A198-08 g.chr5:145428696G>A c.1210G>A c.(1210-1212)Gga>Aga p.G404R SKCM 5 145435568 145435568 + Silent SNP C C T TCGA-EE-A2MN-06A-11D-A197-08 TCGA-EE-A2MN-10A-01D-A199-08 g.chr5:145435568C>T c.1347C>T c.(1345-1347)tcC>tcT p.S449S SKCM 5 145435594 145435594 + Nonsense_Mutation SNP G G A TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 g.chr5:145435594G>A c.1373G>A c.(1372-1374)tGg>tAg p.W458* SKCM 5 145435603 145435603 + Missense_Mutation SNP C C T TCGA-DA-A3F8-06A-11D-A20D-08 TCGA-DA-A3F8-10A-01D-A20D-08 g.chr5:145435603C>T c.1382C>T c.(1381-1383)tCc>tTc p.S461F SKCM 5 145435641 145435641 + Missense_Mutation SNP G G A TCGA-FW-A3R5-06A-11D-A23B-08 TCGA-FW-A3R5-10A-01D-A23B-08 g.chr5:145435641G>A c.1420G>A c.(1420-1422)Ggt>Agt p.G474S SKCM 5 145435663 145435663 + Missense_Mutation SNP C C T TCGA-EE-A3JI-06A-11D-A21A-08 TCGA-EE-A3JI-10A-01D-A21A-08 g.chr5:145435663C>T c.1442C>T c.(1441-1443)cCc>cTc p.P481L SKCM 5 145435702 145435702 + Missense_Mutation SNP C C T TCGA-EE-A2MT-06A-11D-A197-08 TCGA-EE-A2MT-10A-01D-A199-08 g.chr5:145435702C>T c.1481C>T c.(1480-1482)cCc>cTc p.P494L SKCM 5 145435759 145435759 + Missense_Mutation SNP G G A TCGA-D3-A3ML-06A-11D-A21A-08 TCGA-D3-A3ML-10A-01D-A21A-08 g.chr5:145435759G>A c.1538G>A c.(1537-1539)cGg>cAg p.R513Q SKCM 5 145435759 145435759 + Missense_Mutation SNP G G A TCGA-EE-A29H-06A-12D-A197-08 TCGA-EE-A29H-10A-01D-A199-08 g.chr5:145435759G>A c.1538G>A c.(1537-1539)cGg>cAg p.R513Q SKCM 5 145439446 145439446 + Missense_Mutation SNP C C T TCGA-RP-A695-06A-11D-A30X-08 TCGA-RP-A695-10A-01D-A30X-08 g.chr5:145439446C>T c.1573C>T c.(1573-1575)Ccc>Tcc p.P525S SKCM 5 145439502 145439502 + Silent SNP C C T TCGA-EE-A2MI-06A-11D-A197-08 TCGA-EE-A2MI-10A-01D-A199-08 g.chr5:145439502C>T c.1629C>T c.(1627-1629)acC>acT p.T543T SKCM 5 145439538 145439538 + Silent SNP G G A TCGA-D3-A5GO-06A-12D-A27K-08 TCGA-D3-A5GO-10A-01D-A27N-08 g.chr5:145439538G>A c.1665G>A c.(1663-1665)caG>caA p.Q555Q SKCM 5 145439545 145439545 + Missense_Mutation SNP G G A TCGA-EE-A2GI-06A-11D-A196-08 TCGA-EE-A2GI-10A-01D-A198-08 g.chr5:145439545G>A c.1672G>A c.(1672-1674)Ggg>Agg p.G558R SKCM 5 145439619 145439619 + Silent SNP C C T TCGA-FW-A3R5-06A-11D-A23B-08 TCGA-FW-A3R5-10A-01D-A23B-08 g.chr5:145439619C>T c.1746C>T c.(1744-1746)ctC>ctT p.L582L SKCM 5 145439658 145439658 + Silent SNP C C T TCGA-EE-A2MC-06A-12D-A197-08 TCGA-EE-A2MC-10A-01D-A199-08 g.chr5:145439658C>T c.1785C>T c.(1783-1785)tcC>tcT p.S595S SKCM 5 145439658 145439658 + Silent SNP C C T TCGA-FW-A3R5-06A-11D-A23B-08 TCGA-FW-A3R5-10A-01D-A23B-08 g.chr5:145439658C>T c.1785C>T c.(1783-1785)tcC>tcT p.S595S SKCM 5 145442021 145442021 + Silent SNP C C T TCGA-D3-A3ML-06A-11D-A21A-08 TCGA-D3-A3ML-10A-01D-A21A-08 g.chr5:145442021C>T c.1947C>T c.(1945-1947)agC>agT p.S649S SKCM 5 145442052 145442052 + Missense_Mutation SNP C C T TCGA-EE-A3JA-06A-11D-A20D-08 TCGA-EE-A3JA-10A-01D-A20D-08 g.chr5:145442052C>T c.1978C>T c.(1978-1980)Ccc>Tcc p.P660S SKCM 5 145442053 145442053 + Missense_Mutation SNP C C T TCGA-EE-A3AA-06A-11D-A196-08 TCGA-EE-A3AA-10A-01D-A198-08 g.chr5:145442053C>T c.1979C>T c.(1978-1980)cCc>cTc p.P660L SKCM 5 145442097 145442097 + Nonsense_Mutation SNP C C T TCGA-EE-A3AA-06A-11D-A196-08 TCGA-EE-A3AA-10A-01D-A198-08 g.chr5:145442097C>T c.2023C>T c.(2023-2025)Cag>Tag p.Q675* SKCM 5 145442103 145442103 + Missense_Mutation SNP G G A TCGA-EE-A3AE-06A-11D-A196-08 TCGA-EE-A3AE-10A-01D-A198-08 g.chr5:145442103G>A c.2029G>A c.(2029-2031)Gaa>Aaa p.E677K SKCM 5 145442113 145442113 + Missense_Mutation SNP C C T TCGA-FW-A3R5-06A-11D-A23B-08 TCGA-FW-A3R5-10A-01D-A23B-08 g.chr5:145442113C>T c.2039C>T c.(2038-2040)tCc>tTc p.S680F SKCM 5 145442197 145442197 + Missense_Mutation SNP C C T TCGA-GN-A266-06A-11D-A197-08 TCGA-GN-A266-10A-01D-A199-08 g.chr5:145442197C>T c.2123C>T c.(2122-2124)gCt>gTt p.A708V SKCM 5 145442215 145442215 + Missense_Mutation SNP C C T TCGA-FR-A3YO-06A-11D-A23B-08 TCGA-FR-A3YO-10A-01D-A23B-08 g.chr5:145442215C>T c.2141C>T c.(2140-2142)aCc>aTc p.T714I

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 5 145379720 145379720 single base substitution G A missense_variant E160K 478G>A BLCA-CN 5 145435636 145435636 single base substitution C T exon_variant BLCA-CN 5 145435636 145435636 single base substitution C T missense_variant S472L 1415C>T BLCA-US 5 145317639 145317639 single base substitution C T downstream_gene_variant BLCA-US 5 145317639 145317639 single base substitution C T missense_variant P50S 148C>T BLCA-US 5 145393552 145393552 single base substitution C T synonymous_variant I329I 987C>T BLCA-US 5 145442003 145442003 single base substitution G T downstream_gene_variant BLCA-US 5 145442003 145442003 single base substitution G T exon_variant BLCA-US 5 145442003 145442003 single base substitution G T synonymous_variant V643V 1929G>T BOCA-FR 5 145327593 145327593 single base substitution A C intron_variant BOCA-FR 5 145414729 145414729 single base substitution T C intron_variant BRCA-EU 5 145311533 145311533 single base substitution G A upstream_gene_variant BRCA-EU 5 145311627 145311627 single base substitution T G upstream_gene_variant BRCA-EU 5 145311775 145311775 single base substitution G A upstream_gene_variant BRCA-EU 5 145312994 145312994 single base substitution T C upstream_gene_variant BRCA-EU 5 145313023 145313023 single base substitution T A upstream_gene_variant BRCA-EU 5 145317276 145317276 single base substitution C T intron_variant BRCA-EU 5 145317276 145317276 single base substitution C T upstream_gene_variant BRCA-EU 5 145318005 145318005 single base substitution C T downstream_gene_variant BRCA-EU 5 145318005 145318005 single base substitution C T intron_variant BRCA-EU 5 145318839 145318839 single base substitution A G downstream_gene_variant BRCA-EU 5 145318839 145318839 single base substitution A G intron_variant BRCA-EU 5 145322516 145322516 single base substitution C A intron_variant BRCA-EU 5 145322928 145322928 single base substitution G A intron_variant BRCA-EU 5 145323100 145323100 single base substitution G A intron_variant BRCA-EU 5 145323565 145323565 single base substitution G A intron_variant BRCA-EU 5 145324291 145324291 single base substitution C G intron_variant BRCA-EU 5 145325028 145325028 single base substitution G C intron_variant BRCA-EU 5 145325759 145325759 single base substitution C G intron_variant BRCA-EU 5 145326405 145326405 single base substitution T G intron_variant BRCA-EU 5 145327071 145327071 single base substitution G A intron_variant BRCA-EU 5 145331646 145331646 single base substitution A G intron_variant BRCA-EU 5 145333418 145333418 single base substitution C T intron_variant BRCA-EU 5 145334106 145334106 single base substitution G C intron_variant BRCA-EU 5 145334838 145334838 single base substitution C A intron_variant BRCA-EU 5 145335006 145335006 single base substitution T C intron_variant BRCA-EU 5 145335060 145335060 single base substitution C G intron_variant BRCA-EU 5 145336860 145336860 single base substitution G C intron_variant BRCA-EU 5 145337260 145337260 deletion of <=200bp A - intron_variant BRCA-EU 5 145338554 145338554 single base substitution G C intron_variant BRCA-EU 5 145340219 145340219 single base substitution C T intron_variant BRCA-EU 5 145340956 145340956 single base substitution G C intron_variant BRCA-EU 5 145342634 145342634 single base substitution G C intron_variant BRCA-EU 5 145344240 145344240 single base substitution A G intron_variant BRCA-EU 5 145344589 145344589 single base substitution C T intron_variant BRCA-EU 5 145344756 145344756 deletion of <=200bp A - intron_variant BRCA-EU 5 145344756 145344756 insertion of <=200bp - A intron_variant BRCA-EU 5 145345384 145345384 single base substitution A C intron_variant BRCA-EU 5 145345654 145345654 single base substitution A T intron_variant BRCA-EU 5 145345823 145345823 single base substitution C T intron_variant BRCA-EU 5 145347013 145347013 single base substitution G A intron_variant BRCA-EU 5 145348350 145348350 single base substitution C T intron_variant BRCA-EU 5 145348468 145348468 single base substitution G A intron_variant BRCA-EU 5 145348473 145348473 single base substitution A G intron_variant BRCA-EU 5 145348645 145348645 single base substitution T C intron_variant BRCA-EU 5 145349057 145349057 single base substitution G A intron_variant BRCA-EU 5 145350942 145350942 deletion of <=200bp A - intron_variant BRCA-EU 5 145352057 145352057 single base substitution G A intron_variant BRCA-EU 5 145352986 145352986 single base substitution G A intron_variant BRCA-EU 5 145357419 145357419 single base substitution G A intron_variant BRCA-EU 5 145357713 145357713 single base substitution C T intron_variant BRCA-EU 5 145358423 145358423 deletion of <=200bp T - intron_variant BRCA-EU 5 145359782 145359782 single base substitution A G intron_variant BRCA-EU 5 145363286 145363286 single base substitution C T intron_variant BRCA-EU 5 145365148 145365148 single base substitution G A intron_variant BRCA-EU 5 145366296 145366296 single base substitution A T intron_variant BRCA-EU 5 145366812 145366812 single base substitution G C intron_variant BRCA-EU 5 145367065 145367065 single base substitution A G intron_variant BRCA-EU 5 145368578 145368578 deletion of <=200bp T - intron_variant BRCA-EU 5 145369201 145369201 single base substitution A G intron_variant BRCA-EU 5 145369215 145369215 single base substitution A G intron_variant BRCA-EU 5 145369878 145369878 single base substitution G T intron_variant BRCA-EU 5 145371171 145371171 single base substitution G C intron_variant BRCA-EU 5 145371384 145371384 single base substitution A C intron_variant BRCA-EU 5 145371904 145371904 single base substitution C G intron_variant BRCA-EU 5 145373041 145373041 single base substitution T C intron_variant BRCA-EU 5 145373064 145373064 single base substitution C T intron_variant BRCA-EU 5 145374271 145374271 single base substitution C G intron_variant BRCA-EU 5 145375901 145375929 deletion of <=200bp CTTAGGTGACTGAAGCACTTCCTCTTAGT - intron_variant BRCA-EU 5 145376595 145376595 single base substitution C T intron_variant BRCA-EU 5 145376631 145376631 single base substitution G T intron_variant BRCA-EU 5 145380697 145380697 single base substitution C G intron_variant BRCA-EU 5 145380754 145380754 single base substitution C G intron_variant BRCA-EU 5 145381040 145381040 single base substitution G C intron_variant BRCA-EU 5 145383403 145383403 single base substitution G T intron_variant BRCA-EU 5 145384039 145384039 single base substitution A C intron_variant BRCA-EU 5 145385695 145385695 single base substitution A C intron_variant BRCA-EU 5 145385916 145385916 single base substitution C T intron_variant BRCA-EU 5 145387018 145387018 single base substitution G A intron_variant BRCA-EU 5 145387350 145387350 single base substitution G A intron_variant BRCA-EU 5 145388380 145388380 single base substitution C A intron_variant BRCA-EU 5 145388777 145388777 single base substitution A C intron_variant BRCA-EU 5 145389204 145389204 single base substitution G A intron_variant BRCA-EU 5 145389955 145389955 single base substitution C A intron_variant BRCA-EU 5 145389983 145389983 single base substitution T A intron_variant BRCA-EU 5 145395889 145395889 single base substitution G T intron_variant BRCA-EU 5 145396150 145396150 single base substitution G A intron_variant BRCA-EU 5 145396360 145396360 single base substitution C T intron_variant BRCA-EU 5 145396861 145396861 single base substitution G A intron_variant BRCA-EU 5 145397122 145397122 single base substitution C A intron_variant BRCA-EU 5 145397562 145397562 single base substitution C T intron_variant BRCA-EU 5 145397868 145397868 single base substitution T G intron_variant BRCA-EU 5 145399807 145399807 single base substitution C A intron_variant BRCA-EU 5 145400915 145400915 single base substitution A G intron_variant BRCA-EU 5 145401821 145401821 single base substitution A G intron_variant BRCA-EU 5 145403571 145403571 single base substitution A G intron_variant BRCA-EU 5 145404028 145404028 single base substitution C A intron_variant BRCA-EU 5 145404347 145404347 single base substitution C G intron_variant BRCA-EU 5 145404740 145404740 single base substitution C T intron_variant BRCA-EU 5 145405203 145405203 single base substitution G T intron_variant BRCA-EU 5 145405659 145405659 single base substitution G A intron_variant BRCA-EU 5 145406433 145406433 single base substitution G A intron_variant BRCA-EU 5 145409826 145409826 single base substitution A G intron_variant BRCA-EU 5 145410599 145410599 single base substitution C T intron_variant BRCA-EU 5 145411265 145411265 single base substitution G C intron_variant BRCA-EU 5 145411365 145411365 single base substitution G A intron_variant BRCA-EU 5 145413471 145413471 single base substitution G T intron_variant BRCA-EU 5 145414823 145414823 single base substitution A C intron_variant BRCA-EU 5 145415801 145415801 single base substitution G A intron_variant BRCA-EU 5 145416257 145416257 deletion of <=200bp A - intron_variant BRCA-EU 5 145418104 145418104 single base substitution G C intron_variant BRCA-EU 5 145418104 145418104 single base substitution G C upstream_gene_variant BRCA-EU 5 145422409 145422409 single base substitution G C intron_variant BRCA-EU 5 145422409 145422409 single base substitution G C upstream_gene_variant BRCA-EU 5 145422458 145422474 deletion of <=200bp CTCAGGACTCGGAACCC - intron_variant BRCA-EU 5 145422458 145422474 deletion of <=200bp CTCAGGACTCGGAACCC - upstream_gene_variant BRCA-EU 5 145422746 145422746 single base substitution C G intron_variant BRCA-EU 5 145424833 145424834 deletion of <=200bp AA - intron_variant BRCA-EU 5 145424833 145424834 deletion of <=200bp AA - upstream_gene_variant BRCA-EU 5 145426602 145426602 single base substitution G C intron_variant BRCA-EU 5 145426602 145426602 single base substitution G C upstream_gene_variant BRCA-EU 5 145426858 145426858 single base substitution C T intron_variant BRCA-EU 5 145426858 145426858 single base substitution C T upstream_gene_variant BRCA-EU 5 145427538 145427538 single base substitution T C intron_variant BRCA-EU 5 145427538 145427538 single base substitution T C upstream_gene_variant BRCA-EU 5 145431149 145431149 insertion of <=200bp - T downstream_gene_variant BRCA-EU 5 145431149 145431149 insertion of <=200bp - T intron_variant BRCA-EU 5 145431149 145431149 insertion of <=200bp - T upstream_gene_variant BRCA-EU 5 145431435 145431435 single base substitution A T downstream_gene_variant BRCA-EU 5 145431435 145431435 single base substitution A T intron_variant BRCA-EU 5 145431435 145431435 single base substitution A T upstream_gene_variant BRCA-EU 5 145431436 145431436 single base substitution G T downstream_gene_variant BRCA-EU 5 145431436 145431436 single base substitution G T intron_variant BRCA-EU 5 145431436 145431436 single base substitution G T upstream_gene_variant BRCA-EU 5 145431573 145431573 single base substitution G C downstream_gene_variant BRCA-EU 5 145431573 145431573 single base substitution G C intron_variant BRCA-EU 5 145431573 145431573 single base substitution G C upstream_gene_variant BRCA-EU 5 145434010 145434010 single base substitution C T intron_variant BRCA-EU 5 145434010 145434010 single base substitution C T upstream_gene_variant BRCA-EU 5 145436303 145436303 single base substitution A T intron_variant BRCA-EU 5 145436435 145436435 single base substitution C T intron_variant BRCA-EU 5 145438724 145438724 single base substitution G T intron_variant BRCA-EU 5 145438941 145438941 single base substitution G C intron_variant BRCA-EU 5 145439902 145439902 single base substitution G C downstream_gene_variant BRCA-EU 5 145439902 145439902 single base substitution G C intron_variant BRCA-EU 5 145441798 145441798 single base substitution C T downstream_gene_variant BRCA-EU 5 145441798 145441798 single base substitution C T intron_variant BRCA-EU 5 145442156 145442156 single base substitution C T downstream_gene_variant BRCA-EU 5 145442156 145442156 single base substitution C T exon_variant BRCA-EU 5 145442156 145442156 single base substitution C T synonymous_variant G694G 2082C>T BRCA-EU 5 145442165 145442165 single base substitution C T downstream_gene_variant BRCA-EU 5 145442165 145442165 single base substitution C T exon_variant BRCA-EU 5 145442165 145442165 single base substitution C T synonymous_variant S697S 2091C>T BRCA-EU 5 145442404 145442440 deletion of <=200bp AAGTGGGAGCAGAAATTCCTGCCCTGGGTGGGAGGAT - 3_prime_UTR_variant BRCA-EU 5 145442404 145442440 deletion of <=200bp AAGTGGGAGCAGAAATTCCTGCCCTGGGTGGGAGGAT - downstream_gene_variant BRCA-EU 5 145442404 145442440 deletion of <=200bp AAGTGGGAGCAGAAATTCCTGCCCTGGGTGGGAGGAT - intron_variant BRCA-EU 5 145442796 145442796 single base substitution G A 3_prime_UTR_variant BRCA-EU 5 145442796 145442796 single base substitution G A downstream_gene_variant BRCA-EU 5 145442796 145442796 single base substitution G A intron_variant BRCA-EU 5 145443374 145443374 single base substitution G A downstream_gene_variant BRCA-EU 5 145443374 145443374 single base substitution G A intron_variant BRCA-EU 5 145446417 145446417 single base substitution G C downstream_gene_variant BRCA-EU 5 145446417 145446417 single base substitution G C intron_variant BRCA-EU 5 145447370 145447370 single base substitution C G downstream_gene_variant BRCA-EU 5 145447370 145447370 single base substitution C G intron_variant BRCA-EU 5 145447384 145447384 single base substitution C A downstream_gene_variant BRCA-EU 5 145447384 145447384 single base substitution C A intron_variant BRCA-EU 5 145447846 145447846 single base substitution C A downstream_gene_variant BRCA-EU 5 145447846 145447846 single base substitution C A intron_variant BRCA-EU 5 145450217 145450217 single base substitution T G intron_variant BRCA-EU 5 145450659 145450659 single base substitution A C intron_variant BRCA-EU 5 145451371 145451371 single base substitution G C intron_variant BRCA-EU 5 145452220 145452220 single base substitution G A intron_variant BRCA-EU 5 145452220 145452220 single base substitution G C intron_variant BRCA-EU 5 145453042 145453042 single base substitution A G intron_variant BRCA-EU 5 145453089 145453089 single base substitution G T intron_variant BRCA-EU 5 145453132 145453132 deletion of <=200bp G - intron_variant BRCA-EU 5 145453214 145453214 single base substitution C G intron_variant BRCA-EU 5 145453441 145453441 single base substitution G A intron_variant BRCA-EU 5 145458253 145458253 single base substitution G C 3_prime_UTR_variant BRCA-EU 5 145458378 145458378 single base substitution C A 3_prime_UTR_variant BRCA-EU 5 145458850 145458850 insertion of <=200bp - T 3_prime_UTR_variant BRCA-EU 5 145459080 145459080 single base substitution C T 3_prime_UTR_variant BRCA-EU 5 145459889 145459889 single base substitution C T 3_prime_UTR_variant BRCA-EU 5 145460392 145460392 single base substitution C T 3_prime_UTR_variant BRCA-EU 5 145461649 145461649 single base substitution C G downstream_gene_variant BRCA-FR 5 145312994 145312994 single base substitution T C upstream_gene_variant BRCA-FR 5 145318839 145318839 single base substitution A G downstream_gene_variant BRCA-FR 5 145318839 145318839 single base substitution A G intron_variant BRCA-FR 5 145325028 145325028 single base substitution G C intron_variant BRCA-FR 5 145333418 145333418 single base substitution C T intron_variant BRCA-FR 5 145336860 145336860 single base substitution G C intron_variant BRCA-FR 5 145338554 145338554 single base substitution G C intron_variant BRCA-FR 5 145348350 145348350 single base substitution C T intron_variant BRCA-FR 5 145349057 145349057 single base substitution G A intron_variant BRCA-FR 5 145365148 145365148 single base substitution G A intron_variant BRCA-FR 5 145367694 145367694 single base substitution G A intron_variant BRCA-FR 5 145370588 145370588 single base substitution C T intron_variant BRCA-FR 5 145371904 145371904 single base substitution C G intron_variant BRCA-FR 5 145373064 145373064 single base substitution C T intron_variant BRCA-FR 5 145374271 145374271 single base substitution C G intron_variant BRCA-FR 5 145374794 145374794 single base substitution C T intron_variant BRCA-FR 5 145381040 145381040 single base substitution G C intron_variant BRCA-FR 5 145388777 145388777 single base substitution A C intron_variant BRCA-FR 5 145395169 145395169 single base substitution C G intron_variant BRCA-FR 5 145396150 145396150 single base substitution G A intron_variant BRCA-FR 5 145404347 145404347 single base substitution C G intron_variant BRCA-FR 5 145405203 145405203 single base substitution G T intron_variant BRCA-FR 5 145406433 145406433 single base substitution G A intron_variant BRCA-FR 5 145413812 145413812 single base substitution A G intron_variant BRCA-FR 5 145418104 145418104 single base substitution G C intron_variant BRCA-FR 5 145418104 145418104 single base substitution G C upstream_gene_variant BRCA-FR 5 145426858 145426858 single base substitution C T intron_variant BRCA-FR 5 145426858 145426858 single base substitution C T upstream_gene_variant BRCA-FR 5 145443374 145443374 single base substitution G A downstream_gene_variant BRCA-FR 5 145443374 145443374 single base substitution G A intron_variant BRCA-FR 5 145447370 145447370 single base substitution C G downstream_gene_variant BRCA-FR 5 145447370 145447370 single base substitution C G intron_variant BRCA-FR 5 145452220 145452220 single base substitution G A intron_variant BRCA-KR 5 145442224 145442224 single base substitution C A downstream_gene_variant BRCA-KR 5 145442224 145442224 single base substitution C A exon_variant BRCA-KR 5 145442224 145442224 single base substitution C A missense_variant S717Y 2150C>A BRCA-UK 5 145322757 145322757 single base substitution C G intron_variant BRCA-UK 5 145323847 145323847 single base substitution C G intron_variant BRCA-UK 5 145345823 145345823 single base substitution C T intron_variant BRCA-UK 5 145366812 145366812 single base substitution G C intron_variant BRCA-UK 5 145379832 145379832 single base substitution A G missense_variant N197S 590A>G BRCA-UK 5 145387018 145387018 single base substitution G A intron_variant BRCA-UK 5 145399807 145399807 single base substitution C A intron_variant BRCA-UK 5 145414823 145414823 single base substitution A C intron_variant BRCA-UK 5 145453214 145453214 single base substitution C G intron_variant BRCA-US 5 145393577 145393577 single base substitution A C missense_variant T338P 1012A>C BTCA-JP 5 145317656 145317657 deletion of <=200bp TG - downstream_gene_variant BTCA-JP 5 145317656 145317657 deletion of <=200bp TG - frameshift_variant PV55 BTCA-JP 5 145439739 145439739 insertion of <=200bp - A downstream_gene_variant BTCA-JP 5 145439739 145439739 insertion of <=200bp - A exon_variant BTCA-JP 5 145439739 145439739 insertion of <=200bp - A frameshift_variant P622P? BTCA-JP 5 145439739 145439739 insertion of <=200bp - A intron_variant CESC-US 5 145317770 145317770 single base substitution G T downstream_gene_variant CESC-US 5 145317770 145317770 single base substitution G T synonymous_variant T93T 279G>T CESC-US 5 145379738 145379738 single base substitution G A missense_variant E166K 496G>A CESC-US 5 145379827 145379827 single base substitution C G synonymous_variant L195L 585C>G CESC-US 5 145428792 145428792 single base substitution G A exon_variant CESC-US 5 145428792 145428792 single base substitution G A missense_variant V436I 1306G>A CESC-US 5 145428792 145428792 single base substitution G A upstream_gene_variant CESC-US 5 145435737 145435737 single base substitution C A exon_variant CESC-US 5 145435737 145435737 single base substitution C A missense_variant Q506K 1516C>A CLLE-ES 5 145313179 145313179 single base substitution C T upstream_gene_variant CLLE-ES 5 145317010 145317010 single base substitution G A intron_variant CLLE-ES 5 145317010 145317010 single base substitution G A upstream_gene_variant CLLE-ES 5 145321525 145321525 single base substitution T G downstream_gene_variant CLLE-ES 5 145321525 145321525 single base substitution T G intron_variant CLLE-ES 5 145335948 145335948 single base substitution C T intron_variant CLLE-ES 5 145341330 145341330 single base substitution G C intron_variant CLLE-ES 5 145351058 145351058 single base substitution G A intron_variant CLLE-ES 5 145351786 145351786 single base substitution T A intron_variant CLLE-ES 5 145352708 145352708 single base substitution G T intron_variant CLLE-ES 5 145364052 145364052 single base substitution A T intron_variant CLLE-ES 5 145379843 145379843 single base substitution C T stop_gained R201* 601C>T CLLE-ES 5 145381415 145381415 single base substitution T A intron_variant CLLE-ES 5 145386974 145386974 single base substitution T C intron_variant CLLE-ES 5 145388083 145388083 single base substitution T C intron_variant CLLE-ES 5 145397814 145397814 single base substitution C A intron_variant CLLE-ES 5 145409033 145409033 single base substitution G A intron_variant CLLE-ES 5 145431985 145431985 single base substitution T C downstream_gene_variant CLLE-ES 5 145431985 145431985 single base substitution T C intron_variant CLLE-ES 5 145431985 145431985 single base substitution T C upstream_gene_variant CLLE-ES 5 145435597 145435597 single base substitution C T exon_variant CLLE-ES 5 145435597 145435597 single base substitution C T missense_variant T459M 1376C>T CLLE-ES 5 145436926 145436926 single base substitution C A intron_variant CLLE-ES 5 145438887 145438887 single base substitution A C intron_variant CLLE-ES 5 145441709 145441709 single base substitution G A downstream_gene_variant CLLE-ES 5 145441709 145441709 single base substitution G A intron_variant CLLE-ES 5 145449202 145449202 single base substitution T A intron_variant CLLE-ES 5 145460540 145460540 single base substitution T C 3_prime_UTR_variant COAD-US 5 145379706 145379706 single base substitution G A missense_variant R155Q 464G>A COAD-US 5 145393500 145393500 single base substitution T C missense_variant V312A 935T>C COAD-US 5 145428791 145428791 single base substitution C T exon_variant COAD-US 5 145428791 145428791 single base substitution C T synonymous_variant Y435Y 1305C>T COAD-US 5 145428791 145428791 single base substitution C T upstream_gene_variant COAD-US 5 145439569 145439569 single base substitution G A exon_variant COAD-US 5 145439569 145439569 single base substitution G A intron_variant COAD-US 5 145439569 145439569 single base substitution G A missense_variant V566M 1696G>A COAD-US 5 145442111 145442111 single base substitution G A downstream_gene_variant COAD-US 5 145442111 145442111 single base substitution G A exon_variant COAD-US 5 145442111 145442111 single base substitution G A synonymous_variant A679A 2037G>A COCA-CN 5 145339180 145339180 single base substitution G A intron_variant COCA-CN 5 145339182 145339182 single base substitution G A intron_variant COCA-CN 5 145339212 145339212 single base substitution A G intron_variant COCA-CN 5 145342136 145342136 single base substitution C T intron_variant COCA-CN 5 145353031 145353031 single base substitution A G intron_variant COCA-CN 5 145377271 145377271 single base substitution A G intron_variant COCA-CN 5 145377423 145377423 single base substitution T C intron_variant COCA-CN 5 145378588 145378588 single base substitution T A intron_variant COCA-CN 5 145379837 145379837 single base substitution G A missense_variant D199N 595G>A COCA-CN 5 145380001 145380001 single base substitution T C intron_variant COCA-CN 5 145383397 145383397 single base substitution T C intron_variant COCA-CN 5 145383510 145383510 single base substitution A C intron_variant COCA-CN 5 145389599 145389599 single base substitution A C intron_variant COCA-CN 5 145390610 145390610 single base substitution G A intron_variant COCA-CN 5 145435597 145435597 single base substitution C T exon_variant COCA-CN 5 145435597 145435597 single base substitution C T missense_variant T459M 1376C>T COCA-CN 5 145435651 145435651 single base substitution G A exon_variant COCA-CN 5 145435651 145435651 single base substitution G A missense_variant R477Q 1430G>A COCA-CN 5 145437525 145437525 single base substitution C A intron_variant COCA-CN 5 145439576 145439576 single base substitution T A exon_variant COCA-CN 5 145439576 145439576 single base substitution T A intron_variant COCA-CN 5 145439576 145439576 single base substitution T A missense_variant V568E 1703T>A COCA-CN 5 145439705 145439705 single base substitution G A exon_variant COCA-CN 5 145439705 145439705 single base substitution G A intron_variant COCA-CN 5 145439705 145439705 single base substitution G A missense_variant S611N 1832G>A COCA-CN 5 145442193 145442193 single base substitution T C downstream_gene_variant COCA-CN 5 145442193 145442193 single base substitution T C exon_variant COCA-CN 5 145442193 145442193 single base substitution T C missense_variant S707P 2119T>C COCA-CN 5 145449390 145449390 single base substitution C T intron_variant COCA-CN 5 145456227 145456227 single base substitution C T intron_variant EOPC-DE 5 145367945 145367945 single base substitution G A intron_variant EOPC-DE 5 145373168 145373168 single base substitution T A intron_variant EOPC-DE 5 145392022 145392022 single base substitution T A intron_variant ESAD-UK 5 145316293 145316293 single base substitution C T exon_variant ESAD-UK 5 145316293 145316293 single base substitution C T intron_variant ESAD-UK 5 145316293 145316293 single base substitution C T upstream_gene_variant ESAD-UK 5 145323255 145323255 single base substitution T A intron_variant ESAD-UK 5 145324167 145324167 single base substitution G A intron_variant ESAD-UK 5 145326052 145326052 single base substitution A G intron_variant ESAD-UK 5 145332191 145332191 single base substitution C T intron_variant ESAD-UK 5 145334446 145334449 deletion of <=200bp GAGG - intron_variant ESAD-UK 5 145335248 145335248 single base substitution G A intron_variant ESAD-UK 5 145340103 145340103 single base substitution T C intron_variant ESAD-UK 5 145341849 145341849 single base substitution C T intron_variant ESAD-UK 5 145348663 145348663 single base substitution C G intron_variant ESAD-UK 5 145348827 145348827 single base substitution G T intron_variant ESAD-UK 5 145349847 145349847 deletion of <=200bp C - intron_variant ESAD-UK 5 145350363 145350363 insertion of <=200bp - T intron_variant ESAD-UK 5 145355334 145355334 single base substitution T C intron_variant ESAD-UK 5 145357088 145357088 single base substitution A G intron_variant ESAD-UK 5 145361850 145361850 single base substitution A C intron_variant ESAD-UK 5 145362107 145362107 single base substitution G A intron_variant ESAD-UK 5 145367334 145367334 single base substitution C T intron_variant ESAD-UK 5 145369155 145369155 single base substitution G C intron_variant ESAD-UK 5 145369320 145369320 single base substitution A G intron_variant ESAD-UK 5 145370165 145370165 single base substitution T C intron_variant ESAD-UK 5 145371763 145371763 single base substitution C T intron_variant ESAD-UK 5 145374144 145374144 single base substitution G A intron_variant ESAD-UK 5 145376824 145376824 single base substitution C T intron_variant ESAD-UK 5 145380240 145380240 single base substitution A G intron_variant ESAD-UK 5 145382122 145382122 single base substitution G A intron_variant ESAD-UK 5 145385167 145385167 single base substitution C G intron_variant ESAD-UK 5 145385416 145385416 single base substitution T G intron_variant ESAD-UK 5 145385991 145385991 deletion of <=200bp A - intron_variant ESAD-UK 5 145386530 145386530 single base substitution G T intron_variant ESAD-UK 5 145387183 145387183 single base substitution T G intron_variant ESAD-UK 5 145389302 145389302 single base substitution C A intron_variant ESAD-UK 5 145391711 145391711 single base substitution T C intron_variant ESAD-UK 5 145391725 145391725 single base substitution T C intron_variant ESAD-UK 5 145393849 145393849 single base substitution C T intron_variant ESAD-UK 5 145395876 145395876 single base substitution A C intron_variant ESAD-UK 5 145398166 145398166 single base substitution C T intron_variant ESAD-UK 5 145398192 145398192 single base substitution A G intron_variant ESAD-UK 5 145401411 145401411 single base substitution C G intron_variant ESAD-UK 5 145403722 145403722 single base substitution A T intron_variant ESAD-UK 5 145405238 145405238 single base substitution A C intron_variant ESAD-UK 5 145405276 145405276 single base substitution T C intron_variant ESAD-UK 5 145407300 145407300 single base substitution G T intron_variant ESAD-UK 5 145408418 145408418 single base substitution A G intron_variant ESAD-UK 5 145418770 145418770 single base substitution G C intron_variant ESAD-UK 5 145418770 145418770 single base substitution G C upstream_gene_variant ESAD-UK 5 145419890 145419890 single base substitution A G intron_variant ESAD-UK 5 145419890 145419890 single base substitution A G upstream_gene_variant ESAD-UK 5 145420981 145420981 single base substitution C T intron_variant ESAD-UK 5 145420981 145420981 single base substitution C T upstream_gene_variant ESAD-UK 5 145421040 145421040 single base substitution C T intron_variant ESAD-UK 5 145421040 145421040 single base substitution C T upstream_gene_variant ESAD-UK 5 145422461 145422461 single base substitution A T intron_variant ESAD-UK 5 145422461 145422461 single base substitution A T upstream_gene_variant ESAD-UK 5 145425317 145425317 single base substitution G A intron_variant ESAD-UK 5 145425317 145425317 single base substitution G A upstream_gene_variant ESAD-UK 5 145425974 145425974 single base substitution C G intron_variant ESAD-UK 5 145425974 145425974 single base substitution C G upstream_gene_variant ESAD-UK 5 145426817 145426817 single base substitution C T intron_variant ESAD-UK 5 145426817 145426817 single base substitution C T upstream_gene_variant ESAD-UK 5 145427713 145427713 deletion of <=200bp A - intron_variant ESAD-UK 5 145427713 145427713 deletion of <=200bp A - upstream_gene_variant ESAD-UK 5 145427896 145427896 single base substitution C T intron_variant ESAD-UK 5 145427896 145427896 single base substitution C T upstream_gene_variant ESAD-UK 5 145430882 145430882 single base substitution G T downstream_gene_variant ESAD-UK 5 145430882 145430882 single base substitution G T intron_variant ESAD-UK 5 145430882 145430882 single base substitution G T upstream_gene_variant ESAD-UK 5 145432258 145432258 single base substitution A G downstream_gene_variant ESAD-UK 5 145432258 145432258 single base substitution A G intron_variant ESAD-UK 5 145432258 145432258 single base substitution A G upstream_gene_variant ESAD-UK 5 145433235 145433235 single base substitution C G downstream_gene_variant ESAD-UK 5 145433235 145433235 single base substitution C G intron_variant ESAD-UK 5 145433235 145433235 single base substitution C G upstream_gene_variant ESAD-UK 5 145434240 145434240 single base substitution C T intron_variant ESAD-UK 5 145434240 145434240 single base substitution C T upstream_gene_variant ESAD-UK 5 145435747 145435747 insertion of <=200bp - CT exon_variant ESAD-UK 5 145435747 145435747 insertion of <=200bp - CT frameshift_variant L509P? ESAD-UK 5 145436267 145436267 single base substitution A T intron_variant ESAD-UK 5 145437170 145437170 single base substitution T G intron_variant ESAD-UK 5 145439768 145439768 single base substitution C G downstream_gene_variant ESAD-UK 5 145439768 145439768 single base substitution C G exon_variant ESAD-UK 5 145439768 145439768 single base substitution C G intron_variant ESAD-UK 5 145439768 145439768 single base substitution C G stop_gained S632* 1895C>G ESAD-UK 5 145441700 145441700 single base substitution A G downstream_gene_variant ESAD-UK 5 145441700 145441700 single base substitution A G intron_variant ESAD-UK 5 145449374 145449374 single base substitution C T intron_variant ESAD-UK 5 145449752 145449752 single base substitution G T intron_variant ESAD-UK 5 145453082 145453082 single base substitution A C intron_variant ESAD-UK 5 145453283 145453283 single base substitution G C intron_variant ESAD-UK 5 145454488 145454488 single base substitution C T intron_variant ESAD-UK 5 145454792 145454792 single base substitution G T intron_variant ESAD-UK 5 145459128 145459128 single base substitution G C 3_prime_UTR_variant ESAD-UK 5 145459279 145459279 single base substitution G T 3_prime_UTR_variant ESAD-UK 5 145459333 145459333 single base substitution T C 3_prime_UTR_variant ESAD-UK 5 145459631 145459631 insertion of <=200bp - T 3_prime_UTR_variant ESAD-UK 5 145460941 145460941 single base substitution G A 3_prime_UTR_variant ESAD-UK 5 145461665 145461665 single base substitution C T downstream_gene_variant ESAD-UK 5 145462532 145462532 single base substitution T G downstream_gene_variant ESAD-UK 5 145464688 145464688 single base substitution A G downstream_gene_variant ESAD-UK 5 145465128 145465128 single base substitution C T downstream_gene_variant ESAD-UK 5 145465368 145465368 single base substitution C T downstream_gene_variant ESCA-CN 5 145377479 145377479 single base substitution C T intron_variant ESCA-CN 5 145393485 145393486 deletion of <=200bp CT - frameshift_variant T307 ESCA-CN 5 145439614 145439614 single base substitution G A exon_variant ESCA-CN 5 145439614 145439614 single base substitution G A intron_variant ESCA-CN 5 145439614 145439614 single base substitution G A missense_variant A581T 1741G>A ESCA-CN 5 145439717 145439717 single base substitution C T downstream_gene_variant ESCA-CN 5 145439717 145439717 single base substitution C T exon_variant ESCA-CN 5 145439717 145439717 single base substitution C T intron_variant ESCA-CN 5 145439717 145439717 single base substitution C T missense_variant P615L 1844C>T ESCA-CN 5 145442165 145442165 single base substitution C T downstream_gene_variant ESCA-CN 5 145442165 145442165 single base substitution C T exon_variant ESCA-CN 5 145442165 145442165 single base substitution C T synonymous_variant S697S 2091C>T GBM-US 5 145393517 145393517 single base substitution C T missense_variant R318C 952C>T GBM-US 5 145393533 145393533 single base substitution T G missense_variant I323S 968T>G GBM-US 5 145393623 145393623 single base substitution A T missense_variant Q353L 1058A>T GBM-US 5 145428731 145428731 single base substitution C T exon_variant GBM-US 5 145428731 145428731 single base substitution C T synonymous_variant D415D 1245C>T GBM-US 5 145428731 145428731 single base substitution C T upstream_gene_variant GBM-US 5 145435652 145435652 single base substitution G A exon_variant GBM-US 5 145435652 145435652 single base substitution G A synonymous_variant R477R 1431G>A KIRC-US 5 145428752 145428752 single base substitution C T exon_variant KIRC-US 5 145428752 145428752 single base substitution C T synonymous_variant S422S 1266C>T KIRC-US 5 145428752 145428752 single base substitution C T upstream_gene_variant LAML-KR 5 145379681 145379681 single base substitution A G missense_variant N147D 439A>G LAML-KR 5 145437458 145437458 single base substitution A C intron_variant LAML-KR 5 145444290 145444290 single base substitution A G downstream_gene_variant LAML-KR 5 145444290 145444290 single base substitution A G intron_variant LGG-US 5 145393444 145393444 single base substitution G A synonymous_variant R293R 879G>A LICA-FR 5 145313312 145313312 single base substitution A T upstream_gene_variant LICA-FR 5 145339132 145339132 single base substitution C A intron_variant LICA-FR 5 145343870 145343870 single base substitution T C intron_variant LICA-FR 5 145368740 145368740 single base substitution G A intron_variant LICA-FR 5 145377845 145377845 deletion of <=200bp A - intron_variant LICA-FR 5 145379812 145379812 single base substitution G A synonymous_variant P190P 570G>A LICA-FR 5 145390194 145390194 single base substitution G A intron_variant LICA-FR 5 145409573 145409573 single base substitution A G intron_variant LICA-FR 5 145421011 145421011 single base substitution A T intron_variant LICA-FR 5 145421011 145421011 single base substitution A T upstream_gene_variant LICA-FR 5 145444333 145444333 single base substitution G A downstream_gene_variant LICA-FR 5 145444333 145444333 single base substitution G A intron_variant LIHC-US 5 145393600 145393600 single base substitution C T synonymous_variant D345D 1035C>T LINC-JP 5 145312883 145312883 insertion of <=200bp - T upstream_gene_variant LINC-JP 5 145336204 145336204 single base substitution A T intron_variant LINC-JP 5 145337936 145337936 single base substitution C A intron_variant LINC-JP 5 145341391 145341391 single base substitution C G intron_variant LINC-JP 5 145345057 145345057 single base substitution G C intron_variant LINC-JP 5 145361678 145361678 single base substitution A G intron_variant LINC-JP 5 145365449 145365449 single base substitution C G intron_variant LINC-JP 5 145367963 145367963 single base substitution A G intron_variant LINC-JP 5 145376089 145376089 single base substitution T A intron_variant LINC-JP 5 145387404 145387404 single base substitution A C intron_variant LINC-JP 5 145401093 145401093 single base substitution C T intron_variant LINC-JP 5 145406775 145406775 single base substitution A T intron_variant LINC-JP 5 145408421 145408421 single base substitution A G intron_variant LINC-JP 5 145413679 145413679 single base substitution A G intron_variant LINC-JP 5 145415024 145415024 single base substitution G T intron_variant LINC-JP 5 145415025 145415025 single base substitution T A intron_variant LINC-JP 5 145420697 145420697 single base substitution A T intron_variant LINC-JP 5 145420697 145420697 single base substitution A T upstream_gene_variant LINC-JP 5 145435014 145435014 single base substitution C T intron_variant LINC-JP 5 145435014 145435014 single base substitution C T upstream_gene_variant LINC-JP 5 145438621 145438621 single base substitution C T intron_variant LINC-JP 5 145442298 145442298 single base substitution G A 3_prime_UTR_variant LINC-JP 5 145442298 145442298 single base substitution G A downstream_gene_variant LINC-JP 5 145442298 145442298 single base substitution G A exon_variant LINC-JP 5 145442298 145442298 single base substitution G A splice_donor_variant LINC-JP 5 145448044 145448044 single base substitution A G intron_variant LINC-JP 5 145464632 145464633 deletion of <=200bp TT - downstream_gene_variant LIRI-JP 5 145312372 145312372 single base substitution C T upstream_gene_variant LIRI-JP 5 145312557 145312557 single base substitution G A upstream_gene_variant LIRI-JP 5 145313522 145313522 single base substitution C T upstream_gene_variant LIRI-JP 5 145315328 145315328 single base substitution T C upstream_gene_variant LIRI-JP 5 145315401 145315401 single base substitution G A upstream_gene_variant LIRI-JP 5 145315585 145315585 single base substitution G C upstream_gene_variant LIRI-JP 5 145315860 145315860 single base substitution G A upstream_gene_variant LIRI-JP 5 145317895 145317895 single base substitution T C downstream_gene_variant LIRI-JP 5 145317895 145317895 single base substitution T C intron_variant LIRI-JP 5 145317977 145317977 single base substitution T G downstream_gene_variant LIRI-JP 5 145317977 145317977 single base substitution T G intron_variant LIRI-JP 5 145320061 145320061 single base substitution G A downstream_gene_variant LIRI-JP 5 145320061 145320061 single base substitution G A intron_variant LIRI-JP 5 145321918 145321918 single base substitution C T downstream_gene_variant LIRI-JP 5 145321918 145321918 single base substitution C T intron_variant LIRI-JP 5 145323736 145323736 single base substitution T G intron_variant LIRI-JP 5 145324111 145324122 deletion of <=200bp CTTTAGACCAGC - intron_variant LIRI-JP 5 145324219 145324219 single base substitution A G intron_variant LIRI-JP 5 145325627 145325627 single base substitution A G intron_variant LIRI-JP 5 145328932 145328932 single base substitution A G intron_variant LIRI-JP 5 145328934 145328934 single base substitution G T intron_variant LIRI-JP 5 145328978 145328978 single base substitution G C intron_variant LIRI-JP 5 145330047 145330047 single base substitution C T intron_variant LIRI-JP 5 145330669 145330669 single base substitution A G intron_variant LIRI-JP 5 145333795 145333795 single base substitution T G intron_variant LIRI-JP 5 145333797 145333797 single base substitution T G intron_variant LIRI-JP 5 145333842 145333842 single base substitution G T intron_variant LIRI-JP 5 145340312 145340312 single base substitution C A intron_variant LIRI-JP 5 145341514 145341514 single base substitution A G intron_variant LIRI-JP 5 145343688 145343688 single base substitution C T intron_variant LIRI-JP 5 145345348 145345348 single base substitution C G intron_variant LIRI-JP 5 145350066 145350066 single base substitution T G intron_variant LIRI-JP 5 145351164 145351164 single base substitution G C intron_variant LIRI-JP 5 145352067 145352067 single base substitution C T intron_variant LIRI-JP 5 145356193 145356193 single base substitution A G intron_variant LIRI-JP 5 145356827 145356827 single base substitution C G intron_variant LIRI-JP 5 145358320 145358320 single base substitution A G intron_variant LIRI-JP 5 145358586 145358586 single base substitution T A intron_variant LIRI-JP 5 145360303 145360303 single base substitution C A intron_variant LIRI-JP 5 145361181 145361181 single base substitution A G intron_variant LIRI-JP 5 145361793 145361793 single base substitution G T intron_variant LIRI-JP 5 145363560 145363560 single base substitution G A intron_variant LIRI-JP 5 145365664 145365664 single base substitution A G intron_variant LIRI-JP 5 145366376 145366376 single base substitution A T intron_variant LIRI-JP 5 145366822 145366822 single base substitution T A intron_variant LIRI-JP 5 145368182 145368182 single base substitution C A intron_variant LIRI-JP 5 145369027 145369027 single base substitution G T intron_variant LIRI-JP 5 145370379 145370379 single base substitution T C intron_variant LIRI-JP 5 145370978 145370978 deletion of <=200bp C - intron_variant LIRI-JP 5 145374058 145374058 single base substitution G T intron_variant LIRI-JP 5 145374755 145374755 single base substitution A G intron_variant LIRI-JP 5 145375894 145375894 single base substitution A G intron_variant LIRI-JP 5 145379174 145379174 single base substitution T C intron_variant LIRI-JP 5 145381989 145381989 single base substitution G A intron_variant LIRI-JP 5 145382889 145382889 single base substitution A G intron_variant LIRI-JP 5 145383626 145383626 single base substitution T C synonymous_variant D218D 654T>C LIRI-JP 5 145383884 145383884 single base substitution G A intron_variant LIRI-JP 5 145386340 145386340 single base substitution G T intron_variant LIRI-JP 5 145386494 145386494 single base substitution C T intron_variant LIRI-JP 5 145387074 145387074 single base substitution T A intron_variant LIRI-JP 5 145388349 145388349 single base substitution A G intron_variant LIRI-JP 5 145388633 145388633 single base substitution G C intron_variant LIRI-JP 5 145389750 145389750 single base substitution G T intron_variant LIRI-JP 5 145393410 145393410 single base substitution C T missense_variant T282M 845C>T LIRI-JP 5 145393998 145393998 single base substitution C T intron_variant LIRI-JP 5 145394086 145394086 single base substitution G T intron_variant LIRI-JP 5 145395317 145395317 single base substitution G A intron_variant LIRI-JP 5 145395889 145395889 single base substitution G T intron_variant LIRI-JP 5 145401767 145401767 single base substitution C T intron_variant LIRI-JP 5 145404113 145404113 single base substitution C T intron_variant LIRI-JP 5 145405631 145405631 single base substitution A G intron_variant LIRI-JP 5 145406459 145406459 single base substitution C A intron_variant LIRI-JP 5 145411304 145411304 single base substitution C T intron_variant LIRI-JP 5 145411872 145411872 single base substitution T C intron_variant LIRI-JP 5 145411904 145411904 insertion of <=200bp - A intron_variant LIRI-JP 5 145415129 145415129 single base substitution C T intron_variant LIRI-JP 5 145417160 145417160 single base substitution A C intron_variant LIRI-JP 5 145420611 145420611 single base substitution G T intron_variant LIRI-JP 5 145420611 145420611 single base substitution G T upstream_gene_variant LIRI-JP 5 145421098 145421098 single base substitution A G intron_variant LIRI-JP 5 145421098 145421098 single base substitution A G upstream_gene_variant LIRI-JP 5 145422675 145422675 single base substitution A G exon_variant LIRI-JP 5 145422675 145422675 single base substitution A G intron_variant LIRI-JP 5 145424446 145424446 single base substitution C G intron_variant LIRI-JP 5 145425247 145425247 single base substitution A G intron_variant LIRI-JP 5 145425247 145425247 single base substitution A G upstream_gene_variant LIRI-JP 5 145428010 145428010 single base substitution G T intron_variant LIRI-JP 5 145428010 145428010 single base substitution G T upstream_gene_variant LIRI-JP 5 145432470 145432470 single base substitution T A downstream_gene_variant LIRI-JP 5 145432470 145432470 single base substitution T A intron_variant LIRI-JP 5 145432470 145432470 single base substitution T A upstream_gene_variant LIRI-JP 5 145432471 145432471 single base substitution C A downstream_gene_variant LIRI-JP 5 145432471 145432471 single base substitution C A intron_variant LIRI-JP 5 145432471 145432471 single base substitution C A upstream_gene_variant LIRI-JP 5 145433632 145433632 single base substitution T G downstream_gene_variant LIRI-JP 5 145433632 145433632 single base substitution T G intron_variant LIRI-JP 5 145433632 145433632 single base substitution T G upstream_gene_variant LIRI-JP 5 145433793 145433793 single base substitution G A downstream_gene_variant LIRI-JP 5 145433793 145433793 single base substitution G A intron_variant LIRI-JP 5 145433793 145433793 single base substitution G A upstream_gene_variant LIRI-JP 5 145434644 145434644 single base substitution T A intron_variant LIRI-JP 5 145434644 145434644 single base substitution T A upstream_gene_variant LIRI-JP 5 145437833 145437833 single base substitution T G intron_variant LIRI-JP 5 145440208 145440208 single base substitution A G downstream_gene_variant LIRI-JP 5 145440208 145440208 single base substitution A G intron_variant LIRI-JP 5 145441189 145441189 single base substitution T C downstream_gene_variant LIRI-JP 5 145441189 145441189 single base substitution T C intron_variant LIRI-JP 5 145443496 145443496 single base substitution A G downstream_gene_variant LIRI-JP 5 145443496 145443496 single base substitution A G intron_variant LIRI-JP 5 145447034 145447034 single base substitution C A downstream_gene_variant LIRI-JP 5 145447034 145447034 single base substitution C A intron_variant LIRI-JP 5 145447117 145447117 single base substitution T G downstream_gene_variant LIRI-JP 5 145447117 145447117 single base substitution T G intron_variant LIRI-JP 5 145447913 145447913 insertion of <=200bp - T intron_variant LIRI-JP 5 145448176 145448176 single base substitution A G intron_variant LIRI-JP 5 145448917 145448917 single base substitution T A intron_variant LIRI-JP 5 145449456 145449456 single base substitution C T intron_variant LIRI-JP 5 145452384 145452384 single base substitution G T intron_variant LIRI-JP 5 145458512 145458512 single base substitution C T 3_prime_UTR_variant LIRI-JP 5 145460735 145460735 single base substitution C A 3_prime_UTR_variant LIRI-JP 5 145461419 145461419 single base substitution T A downstream_gene_variant LUSC-KR 5 145312587 145312587 single base substitution T C upstream_gene_variant LUSC-KR 5 145324258 145324258 single base substitution A T intron_variant LUSC-KR 5 145334191 145334191 single base substitution G A intron_variant LUSC-KR 5 145334334 145334334 single base substitution C G intron_variant LUSC-KR 5 145337684 145337684 single base substitution A G intron_variant LUSC-KR 5 145340333 145340333 single base substitution G C intron_variant LUSC-KR 5 145343866 145343866 single base substitution C T intron_variant LUSC-KR 5 145352211 145352211 single base substitution G T intron_variant LUSC-KR 5 145354937 145354937 single base substitution G T intron_variant LUSC-KR 5 145372378 145372378 single base substitution G A intron_variant LUSC-KR 5 145378248 145378248 single base substitution G T intron_variant LUSC-KR 5 145382253 145382253 single base substitution A G intron_variant LUSC-KR 5 145387762 145387762 single base substitution C T intron_variant LUSC-KR 5 145390813 145390813 single base substitution G T intron_variant LUSC-KR 5 145400141 145400141 single base substitution A T intron_variant LUSC-KR 5 145403848 145403848 single base substitution T G intron_variant LUSC-KR 5 145417323 145417323 single base substitution G C intron_variant LUSC-KR 5 145418641 145418641 single base substitution G A intron_variant LUSC-KR 5 145418641 145418641 single base substitution G A upstream_gene_variant LUSC-KR 5 145421347 145421347 single base substitution G C intron_variant LUSC-KR 5 145421347 145421347 single base substitution G C upstream_gene_variant LUSC-KR 5 145426628 145426628 single base substitution G A intron_variant LUSC-KR 5 145426628 145426628 single base substitution G A upstream_gene_variant LUSC-KR 5 145430571 145430571 single base substitution G T downstream_gene_variant LUSC-KR 5 145430571 145430571 single base substitution G T intron_variant LUSC-KR 5 145430571 145430571 single base substitution G T upstream_gene_variant LUSC-KR 5 145440594 145440594 single base substitution A C downstream_gene_variant LUSC-KR 5 145440594 145440594 single base substitution A C intron_variant LUSC-KR 5 145442571 145442571 single base substitution C G 3_prime_UTR_variant LUSC-KR 5 145442571 145442571 single base substitution C G downstream_gene_variant LUSC-KR 5 145442571 145442571 single base substitution C G intron_variant LUSC-KR 5 145444294 145444294 single base substitution G A downstream_gene_variant LUSC-KR 5 145444294 145444294 single base substitution G A intron_variant LUSC-KR 5 145444298 145444298 single base substitution G A downstream_gene_variant LUSC-KR 5 145444298 145444298 single base substitution G A intron_variant LUSC-KR 5 145444320 145444320 single base substitution A G downstream_gene_variant LUSC-KR 5 145444320 145444320 single base substitution A G intron_variant LUSC-KR 5 145444374 145444374 single base substitution A G downstream_gene_variant LUSC-KR 5 145444374 145444374 single base substitution A G intron_variant LUSC-KR 5 145444378 145444378 single base substitution A G downstream_gene_variant LUSC-KR 5 145444378 145444378 single base substitution A G intron_variant LUSC-KR 5 145460547 145460547 single base substitution G C 3_prime_UTR_variant LUSC-KR 5 145461034 145461034 single base substitution G T 3_prime_UTR_variant LUSC-US 5 145383661 145383661 single base substitution G A stop_gained W230* 689G>A LUSC-US 5 145383666 145383666 single base substitution G A missense_variant E232K 694G>A LUSC-US 5 145393529 145393529 single base substitution G A missense_variant E322K 964G>A LUSC-US 5 145428766 145428766 single base substitution G T exon_variant LUSC-US 5 145428766 145428766 single base substitution G T missense_variant R427L 1280G>T LUSC-US 5 145428766 145428766 single base substitution G T upstream_gene_variant LUSC-US 5 145435759 145435759 single base substitution G A exon_variant LUSC-US 5 145435759 145435759 single base substitution G A missense_variant R513Q 1538G>A LUSC-US 5 145439472 145439472 single base substitution C T exon_variant LUSC-US 5 145439472 145439472 single base substitution C T intron_variant LUSC-US 5 145439472 145439472 single base substitution C T synonymous_variant L533L 1599C>T LUSC-US 5 145439657 145439657 single base substitution C T exon_variant LUSC-US 5 145439657 145439657 single base substitution C T intron_variant LUSC-US 5 145439657 145439657 single base substitution C T missense_variant S595F 1784C>T MALY-DE 5 145318274 145318274 single base substitution T A downstream_gene_variant MALY-DE 5 145318274 145318274 single base substitution T A intron_variant MALY-DE 5 145318725 145318725 single base substitution G A downstream_gene_variant MALY-DE 5 145318725 145318725 single base substitution G A intron_variant MALY-DE 5 145326717 145326718 deletion of <=200bp AT - intron_variant MALY-DE 5 145333428 145333428 single base substitution C T intron_variant MALY-DE 5 145334432 145334433 deletion of <=200bp GA - intron_variant MALY-DE 5 145339776 145339776 single base substitution C A intron_variant MALY-DE 5 145341758 145341758 single base substitution G C intron_variant MALY-DE 5 145350345 145350345 single base substitution A C intron_variant MALY-DE 5 145359432 145359432 single base substitution A G intron_variant MALY-DE 5 145366070 145366070 single base substitution G A intron_variant MALY-DE 5 145374571 145374571 insertion of <=200bp - A intron_variant MALY-DE 5 145375408 145375408 single base substitution A G intron_variant MALY-DE 5 145378347 145378347 single base substitution G A intron_variant MALY-DE 5 145380163 145380163 insertion of <=200bp - T intron_variant MALY-DE 5 145383878 145383878 single base substitution G A intron_variant MALY-DE 5 145385298 145385298 single base substitution C A intron_variant MALY-DE 5 145388807 145388807 single base substitution A G intron_variant MALY-DE 5 145407427 145407427 single base substitution T C intron_variant MALY-DE 5 145408091 145408091 single base substitution C T intron_variant MALY-DE 5 145413820 145413820 single base substitution A G intron_variant MALY-DE 5 145415019 145415019 insertion of <=200bp - AAAGCTATT intron_variant MALY-DE 5 145421305 145421305 single base substitution C A intron_variant MALY-DE 5 145421305 145421305 single base substitution C A upstream_gene_variant MALY-DE 5 145426331 145426331 deletion of <=200bp T - intron_variant MALY-DE 5 145426331 145426331 deletion of <=200bp T - upstream_gene_variant MALY-DE 5 145428093 145428093 insertion of <=200bp - A intron_variant MALY-DE 5 145428093 145428093 insertion of <=200bp - A upstream_gene_variant MALY-DE 5 145429964 145429964 single base substitution T C downstream_gene_variant MALY-DE 5 145429964 145429964 single base substitution T C intron_variant MALY-DE 5 145435288 145435288 single base substitution C A intron_variant MALY-DE 5 145435288 145435288 single base substitution C A upstream_gene_variant MALY-DE 5 145439125 145439126 deletion of <=200bp GT - intron_variant MALY-DE 5 145440614 145440614 single base substitution G A downstream_gene_variant MALY-DE 5 145440614 145440614 single base substitution G A intron_variant MALY-DE 5 145440956 145440956 single base substitution T C downstream_gene_variant MALY-DE 5 145440956 145440956 single base substitution T C intron_variant MALY-DE 5 145442634 145442634 single base substitution C T 3_prime_UTR_variant MALY-DE 5 145442634 145442634 single base substitution C T downstream_gene_variant MALY-DE 5 145442634 145442634 single base substitution C T intron_variant MALY-DE 5 145442713 145442713 single base substitution G T 3_prime_UTR_variant MALY-DE 5 145442713 145442713 single base substitution G T downstream_gene_variant MALY-DE 5 145442713 145442713 single base substitution G T intron_variant MALY-DE 5 145445355 145445355 single base substitution C A downstream_gene_variant MALY-DE 5 145445355 145445355 single base substitution C A intron_variant MALY-DE 5 145451700 145451700 single base substitution C T intron_variant MALY-DE 5 145453963 145453963 single base substitution G A intron_variant MALY-DE 5 145454146 145454146 single base substitution A C intron_variant MALY-DE 5 145460927 145460927 single base substitution C T 3_prime_UTR_variant MALY-DE 5 145461074 145461074 single base substitution C T 3_prime_UTR_variant MELA-AU 5 145311204 145311204 single base substitution C G upstream_gene_variant MELA-AU 5 145311206 145311206 single base substitution T A upstream_gene_variant MELA-AU 5 145311345 145311345 single base substitution G A upstream_gene_variant MELA-AU 5 145311444 145311444 single base substitution C T upstream_gene_variant MELA-AU 5 145311708 145311708 single base substitution G A upstream_gene_variant MELA-AU 5 145311729 145311729 single base substitution G A upstream_gene_variant MELA-AU 5 145311775 145311775 single base substitution G A upstream_gene_variant MELA-AU 5 145312062 145312062 single base substitution C T upstream_gene_variant MELA-AU 5 145312379 145312379 single base substitution G A upstream_gene_variant MELA-AU 5 145312442 145312442 single base substitution C T upstream_gene_variant MELA-AU 5 145312534 145312534 single base substitution G A upstream_gene_variant MELA-AU 5 145312711 145312711 single base substitution G A upstream_gene_variant MELA-AU 5 145312783 145312783 single base substitution G A upstream_gene_variant MELA-AU 5 145312875 145312875 single base substitution C T upstream_gene_variant MELA-AU 5 145312971 145312971 single base substitution A T upstream_gene_variant MELA-AU 5 145313084 145313084 single base substitution C T upstream_gene_variant MELA-AU 5 145313126 145313126 single base substitution T A upstream_gene_variant MELA-AU 5 145313132 145313132 single base substitution C T upstream_gene_variant MELA-AU 5 145313201 145313201 single base substitution G A upstream_gene_variant MELA-AU 5 145313208 145313208 single base substitution C T upstream_gene_variant MELA-AU 5 145313263 145313263 single base substitution C T upstream_gene_variant MELA-AU 5 145313266 145313266 single base substitution G A upstream_gene_variant MELA-AU 5 145313424 145313424 single base substitution G A upstream_gene_variant MELA-AU 5 145313436 145313436 single base substitution G A upstream_gene_variant MELA-AU 5 145313467 145313467 single base substitution C T upstream_gene_variant MELA-AU 5 145313491 145313491 single base substitution T A upstream_gene_variant MELA-AU 5 145313509 145313509 single base substitution C T upstream_gene_variant MELA-AU 5 145313688 145313688 single base substitution C T upstream_gene_variant MELA-AU 5 145313695 145313695 single base substitution G A upstream_gene_variant MELA-AU 5 145313893 145313893 single base substitution G A upstream_gene_variant MELA-AU 5 145313916 145313916 single base substitution C T upstream_gene_variant MELA-AU 5 145313957 145313957 single base substitution G A upstream_gene_variant MELA-AU 5 145313976 145313976 single base substitution G A upstream_gene_variant MELA-AU 5 145313984 145313984 single base substitution G A upstream_gene_variant MELA-AU 5 145313998 145313998 single base substitution T A upstream_gene_variant MELA-AU 5 145314024 145314024 single base substitution G A upstream_gene_variant MELA-AU 5 145314219 145314219 single base substitution C T upstream_gene_variant MELA-AU 5 145314285 145314285 single base substitution G A upstream_gene_variant MELA-AU 5 145314805 145314805 single base substitution G A upstream_gene_variant MELA-AU 5 145315019 145315019 single base substitution C T upstream_gene_variant MELA-AU 5 145315032 145315032 single base substitution C T upstream_gene_variant MELA-AU 5 145315034 145315034 single base substitution C A upstream_gene_variant MELA-AU 5 145315148 145315148 single base substitution G A upstream_gene_variant MELA-AU 5 145315401 145315401 single base substitution G A upstream_gene_variant MELA-AU 5 145315415 145315415 single base substitution G A upstream_gene_variant MELA-AU 5 145315785 145315785 single base substitution C T upstream_gene_variant MELA-AU 5 145315890 145315890 single base substitution C T upstream_gene_variant MELA-AU 5 145315980 145315980 single base substitution C T upstream_gene_variant MELA-AU 5 145316507 145316507 single base substitution G A exon_variant MELA-AU 5 145316507 145316507 single base substitution G A intron_variant MELA-AU 5 145316507 145316507 single base substitution G A upstream_gene_variant MELA-AU 5 145316618 145316618 single base substitution C T exon_variant MELA-AU 5 145316618 145316618 single base substitution C T intron_variant MELA-AU 5 145316618 145316618 single base substitution C T upstream_gene_variant MELA-AU 5 145316722 145316722 single base substitution G A intron_variant MELA-AU 5 145316722 145316722 single base substitution G A upstream_gene_variant MELA-AU 5 145316763 145316763 single base substitution A T intron_variant MELA-AU 5 145316763 145316763 single base substitution A T upstream_gene_variant MELA-AU 5 145316881 145316881 single base substitution G A intron_variant MELA-AU 5 145316881 145316881 single base substitution G A upstream_gene_variant MELA-AU 5 145317001 145317001 single base substitution A G intron_variant MELA-AU 5 145317001 145317001 single base substitution A G upstream_gene_variant MELA-AU 5 145317300 145317300 single base substitution C T intron_variant MELA-AU 5 145317300 145317300 single base substitution C T upstream_gene_variant MELA-AU 5 145317371 145317371 single base substitution C T intron_variant MELA-AU 5 145317371 145317371 single base substitution C T upstream_gene_variant MELA-AU 5 145317664 145317664 single base substitution C T downstream_gene_variant MELA-AU 5 145317664 145317664 single base substitution C T missense_variant S58F 173C>T MELA-AU 5 145317674 145317674 single base substitution G A downstream_gene_variant MELA-AU 5 145317674 145317674 single base substitution G A synonymous_variant E61E 183G>A MELA-AU 5 145317896 145317896 single base substitution C T downstream_gene_variant MELA-AU 5 145317896 145317896 single base substitution C T intron_variant MELA-AU 5 145318204 145318204 single base substitution C T downstream_gene_variant MELA-AU 5 145318204 145318204 single base substitution C T intron_variant MELA-AU 5 145318530 145318530 single base substitution G A downstream_gene_variant MELA-AU 5 145318530 145318530 single base substitution G A intron_variant MELA-AU 5 145318653 145318653 single base substitution G A downstream_gene_variant MELA-AU 5 145318653 145318653 single base substitution G A intron_variant MELA-AU 5 145318763 145318763 single base substitution C T downstream_gene_variant MELA-AU 5 145318763 145318763 single base substitution C T intron_variant MELA-AU 5 145318791 145318791 single base substitution G A downstream_gene_variant MELA-AU 5 145318791 145318791 single base substitution G A intron_variant MELA-AU 5 145318835 145318835 single base substitution C T downstream_gene_variant MELA-AU 5 145318835 145318835 single base substitution C T intron_variant MELA-AU 5 145318842 145318842 single base substitution C T downstream_gene_variant MELA-AU 5 145318842 145318842 single base substitution C T intron_variant MELA-AU 5 145318904 145318904 single base substitution C T downstream_gene_variant MELA-AU 5 145318904 145318904 single base substitution C T intron_variant MELA-AU 5 145318956 145318956 single base substitution T C downstream_gene_variant MELA-AU 5 145318956 145318956 single base substitution T C intron_variant MELA-AU 5 145319700 145319700 single base substitution C T downstream_gene_variant MELA-AU 5 145319700 145319700 single base substitution C T intron_variant MELA-AU 5 145319899 145319899 single base substitution C T downstream_gene_variant MELA-AU 5 145319899 145319899 single base substitution C T intron_variant MELA-AU 5 145320006 145320006 single base substitution G A downstream_gene_variant MELA-AU 5 145320006 145320006 single base substitution G A intron_variant MELA-AU 5 145320688 145320688 single base substitution G A downstream_gene_variant MELA-AU 5 145320688 145320688 single base substitution G A intron_variant MELA-AU 5 145320713 145320713 single base substitution C T downstream_gene_variant MELA-AU 5 145320713 145320713 single base substitution C T intron_variant MELA-AU 5 145320734 145320734 single base substitution G A downstream_gene_variant MELA-AU 5 145320734 145320734 single base substitution G A intron_variant MELA-AU 5 145320777 145320777 deletion of <=200bp A - downstream_gene_variant MELA-AU 5 145320777 145320777 deletion of <=200bp A - intron_variant MELA-AU 5 145320890 145320890 single base substitution G A downstream_gene_variant MELA-AU 5 145320890 145320890 single base substitution G A intron_variant MELA-AU 5 145320892 145320892 single base substitution G A downstream_gene_variant MELA-AU 5 145320892 145320892 single base substitution G A intron_variant MELA-AU 5 145320934 145320934 single base substitution C A downstream_gene_variant MELA-AU 5 145320934 145320934 single base substitution C A intron_variant MELA-AU 5 145321300 145321300 single base substitution G A downstream_gene_variant MELA-AU 5 145321300 145321300 single base substitution G A intron_variant MELA-AU 5 145321401 145321401 single base substitution C T downstream_gene_variant MELA-AU 5 145321401 145321401 single base substitution C T intron_variant MELA-AU 5 145321684 145321684 single base substitution C T downstream_gene_variant MELA-AU 5 145321684 145321684 single base substitution C T intron_variant MELA-AU 5 145321823 145321823 single base substitution C T downstream_gene_variant MELA-AU 5 145321823 145321823 single base substitution C T intron_variant MELA-AU 5 145321844 145321844 single base substitution C T downstream_gene_variant MELA-AU 5 145321844 145321844 single base substitution C T intron_variant MELA-AU 5 145321874 145321874 single base substitution G A downstream_gene_variant MELA-AU 5 145321874 145321874 single base substitution G A intron_variant MELA-AU 5 145321886 145321886 single base substitution C T downstream_gene_variant MELA-AU 5 145321886 145321886 single base substitution C T intron_variant MELA-AU 5 145321986 145321986 single base substitution C T downstream_gene_variant MELA-AU 5 145321986 145321986 single base substitution C T intron_variant MELA-AU 5 145322088 145322089 multiple base substitution (>=2bp and <=200bp) GG AA downstream_gene_variant MELA-AU 5 145322088 145322089 multiple base substitution (>=2bp and <=200bp) GG AA intron_variant MELA-AU 5 145322099 145322099 single base substitution C T downstream_gene_variant MELA-AU 5 145322099 145322099 single base substitution C T intron_variant MELA-AU 5 145322227 145322227 single base substitution G A downstream_gene_variant MELA-AU 5 145322227 145322227 single base substitution G A intron_variant MELA-AU 5 145322237 145322237 single base substitution G A downstream_gene_variant MELA-AU 5 145322237 145322237 single base substitution G A intron_variant MELA-AU 5 145322411 145322411 single base substitution C T downstream_gene_variant MELA-AU 5 145322411 145322411 single base substitution C T intron_variant MELA-AU 5 145322834 145322834 single base substitution G A intron_variant MELA-AU 5 145323127 145323127 single base substitution C T intron_variant MELA-AU 5 145323343 145323343 single base substitution C T intron_variant MELA-AU 5 145323445 145323445 single base substitution G A intron_variant MELA-AU 5 145324034 145324034 single base substitution C T intron_variant MELA-AU 5 145324089 145324089 single base substitution C A intron_variant MELA-AU 5 145324208 145324208 single base substitution C T intron_variant MELA-AU 5 145324722 145324722 single base substitution G A intron_variant MELA-AU 5 145325312 145325312 single base substitution G A intron_variant MELA-AU 5 145325669 145325669 single base substitution C T intron_variant MELA-AU 5 145326235 145326235 single base substitution C T intron_variant MELA-AU 5 145326299 145326299 single base substitution C T intron_variant MELA-AU 5 145326311 145326311 single base substitution G A intron_variant MELA-AU 5 145326389 145326389 single base substitution G A intron_variant MELA-AU 5 145326506 145326506 single base substitution G A intron_variant MELA-AU 5 145326877 145326877 single base substitution T C intron_variant MELA-AU 5 145327009 145327009 single base substitution G A intron_variant MELA-AU 5 145327067 145327067 single base substitution C T intron_variant MELA-AU 5 145327087 145327087 single base substitution C T intron_variant MELA-AU 5 145327191 145327191 single base substitution G A intron_variant MELA-AU 5 145327310 145327310 single base substitution C T intron_variant MELA-AU 5 145327458 145327458 single base substitution G A intron_variant MELA-AU 5 145327595 145327595 single base substitution G A intron_variant MELA-AU 5 145327599 145327599 single base substitution G A intron_variant MELA-AU 5 145327648 145327648 single base substitution G A intron_variant MELA-AU 5 145327850 145327850 single base substitution G A intron_variant MELA-AU 5 145327967 145327967 single base substitution C A intron_variant MELA-AU 5 145327970 145327970 single base substitution C T intron_variant MELA-AU 5 145328081 145328081 single base substitution C T intron_variant MELA-AU 5 145328125 145328125 single base substitution G A intron_variant MELA-AU 5 145328145 145328145 single base substitution C T intron_variant MELA-AU 5 145328207 145328207 single base substitution G A intron_variant MELA-AU 5 145328340 145328340 single base substitution C T intron_variant MELA-AU 5 145328343 145328343 single base substitution C T intron_variant MELA-AU 5 145328352 145328352 single base substitution C T intron_variant MELA-AU 5 145328358 145328358 single base substitution C T intron_variant MELA-AU 5 145328370 145328370 single base substitution C T intron_variant MELA-AU 5 145328428 145328428 single base substitution C T intron_variant MELA-AU 5 145328564 145328564 single base substitution C T intron_variant MELA-AU 5 145328653 145328653 single base substitution G A intron_variant MELA-AU 5 145328770 145328770 single base substitution G T intron_variant MELA-AU 5 145329097 145329097 single base substitution G A intron_variant MELA-AU 5 145329146 145329146 single base substitution G A intron_variant MELA-AU 5 145329369 145329369 single base substitution C T intron_variant MELA-AU 5 145329378 145329378 single base substitution C T intron_variant MELA-AU 5 145329383 145329383 single base substitution G A intron_variant MELA-AU 5 145329447 145329447 single base substitution C T intron_variant MELA-AU 5 145329449 145329449 single base substitution A G intron_variant MELA-AU 5 145329496 145329496 single base substitution C T intron_variant MELA-AU 5 145329597 145329597 single base substitution G T intron_variant MELA-AU 5 145330077 145330077 single base substitution C T intron_variant MELA-AU 5 145330094 145330094 single base substitution G A intron_variant MELA-AU 5 145330111 145330111 single base substitution G A intron_variant MELA-AU 5 145330113 145330113 single base substitution G A intron_variant MELA-AU 5 145330200 145330200 single base substitution G A intron_variant MELA-AU 5 145330220 145330220 single base substitution G A intron_variant MELA-AU 5 145330253 145330253 single base substitution G A intron_variant MELA-AU 5 145330374 145330374 single base substitution C T intron_variant MELA-AU 5 145330485 145330485 single base substitution G A intron_variant MELA-AU 5 145330666 145330666 single base substitution A G intron_variant MELA-AU 5 145331065 145331065 single base substitution C T intron_variant MELA-AU 5 145331181 145331181 single base substitution G A intron_variant MELA-AU 5 145331213 145331213 single base substitution C T intron_variant MELA-AU 5 145331785 145331785 single base substitution G A intron_variant MELA-AU 5 145331817 145331817 single base substitution C T intron_variant MELA-AU 5 145331972 145331972 single base substitution A C intron_variant MELA-AU 5 145332253 145332253 single base substitution G A intron_variant MELA-AU 5 145332272 145332272 single base substitution C T intron_variant MELA-AU 5 145332324 145332324 single base substitution G A intron_variant MELA-AU 5 145332400 145332400 single base substitution G A intron_variant MELA-AU 5 145332412 145332412 single base substitution T C intron_variant MELA-AU 5 145332535 145332535 single base substitution C A intron_variant MELA-AU 5 145332666 145332666 single base substitution G A intron_variant MELA-AU 5 145332667 145332667 insertion of <=200bp - TC intron_variant MELA-AU 5 145332839 145332839 single base substitution G A intron_variant MELA-AU 5 145332879 145332879 single base substitution G A intron_variant MELA-AU 5 145332885 145332885 single base substitution G A intron_variant MELA-AU 5 145332954 145332954 single base substitution C T intron_variant MELA-AU 5 145332967 145332967 single base substitution G A intron_variant MELA-AU 5 145333217 145333217 single base substitution C T intron_variant MELA-AU 5 145333263 145333264 multiple base substitution (>=2bp and <=200bp) CC TT intron_variant MELA-AU 5 145333264 145333264 single base substitution C T intron_variant MELA-AU 5 145333270 145333270 single base substitution C T intron_variant MELA-AU 5 145333276 145333276 single base substitution C T intron_variant MELA-AU 5 145333286 145333286 single base substitution G A intron_variant MELA-AU 5 145333457 145333457 single base substitution C T intron_variant MELA-AU 5 145333480 145333480 single base substitution C T intron_variant MELA-AU 5 145333583 145333583 single base substitution C T intron_variant MELA-AU 5 145333598 145333598 single base substitution T A intron_variant MELA-AU 5 145333690 145333690 single base substitution C T intron_variant MELA-AU 5 145333942 145333942 single base substitution C T intron_variant MELA-AU 5 145333958 145333958 single base substitution A T intron_variant MELA-AU 5 145333994 145333994 single base substitution C T intron_variant MELA-AU 5 145334119 145334119 single base substitution A T intron_variant MELA-AU 5 145334183 145334183 single base substitution C T intron_variant MELA-AU 5 145334248 145334248 single base substitution G A intron_variant MELA-AU 5 145334264 145334264 single base substitution G A intron_variant MELA-AU 5 145334308 145334308 single base substitution C T intron_variant MELA-AU 5 145334475 145334475 single base substitution G A intron_variant MELA-AU 5 145334498 145334498 single base substitution G A intron_variant MELA-AU 5 145334513 145334513 single base substitution G A intron_variant MELA-AU 5 145334568 145334568 single base substitution G A intron_variant MELA-AU 5 145334628 145334628 single base substitution C T intron_variant MELA-AU 5 145334691 145334691 single base substitution C T intron_variant MELA-AU 5 145334703 145334703 single base substitution G A intron_variant MELA-AU 5 145334742 145334742 single base substitution G A intron_variant MELA-AU 5 145334864 145334864 single base substitution G A intron_variant MELA-AU 5 145334868 145334868 single base substitution C G intron_variant MELA-AU 5 145334928 145334928 single base substitution G A intron_variant MELA-AU 5 145334969 145334969 single base substitution G A intron_variant MELA-AU 5 145334970 145334970 single base substitution G A intron_variant MELA-AU 5 145334976 145334976 single base substitution G A intron_variant MELA-AU 5 145334985 145334985 single base substitution G A intron_variant MELA-AU 5 145334992 145334992 single base substitution G A intron_variant MELA-AU 5 145335048 145335048 single base substitution C T intron_variant MELA-AU 5 145335050 145335050 single base substitution C T intron_variant MELA-AU 5 145335221 145335221 single base substitution C T intron_variant MELA-AU 5 145335297 145335297 single base substitution C T intron_variant MELA-AU 5 145335384 145335384 single base substitution C T intron_variant MELA-AU 5 145335432 145335432 single base substitution G A intron_variant MELA-AU 5 145335462 145335462 single base substitution G A intron_variant MELA-AU 5 145335497 145335497 single base substitution A G intron_variant MELA-AU 5 145335510 145335510 single base substitution G A intron_variant MELA-AU 5 145335568 145335568 single base substitution G A intron_variant MELA-AU 5 145336030 145336030 single base substitution G A intron_variant MELA-AU 5 145336126 145336126 single base substitution A T intron_variant MELA-AU 5 145336180 145336180 single base substitution G A intron_variant MELA-AU 5 145336327 145336327 single base substitution G A intron_variant MELA-AU 5 145336356 145336356 single base substitution G A intron_variant MELA-AU 5 145336512 145336512 single base substitution C T intron_variant MELA-AU 5 145336865 145336865 single base substitution G A intron_variant MELA-AU 5 145337049 145337049 single base substitution C T intron_variant MELA-AU 5 145337069 145337069 single base substitution C T intron_variant MELA-AU 5 145337152 145337152 single base substitution G A intron_variant MELA-AU 5 145337171 145337171 single base substitution G A intron_variant MELA-AU 5 145337294 145337294 single base substitution A C intron_variant MELA-AU 5 145337303 145337303 single base substitution G A intron_variant MELA-AU 5 145337337 145337337 single base substitution C T intron_variant MELA-AU 5 145337363 145337363 single base substitution G A intron_variant MELA-AU 5 145337467 145337467 single base substitution G A intron_variant MELA-AU 5 145337497 145337497 single base substitution G A intron_variant MELA-AU 5 145337761 145337761 single base substitution C T intron_variant MELA-AU 5 145337800 145337800 single base substitution C T intron_variant MELA-AU 5 145337883 145337883 single base substitution T G intron_variant MELA-AU 5 145337884 145337884 single base substitution C T intron_variant MELA-AU 5 145338121 145338121 single base substitution G A intron_variant MELA-AU 5 145338177 145338177 single base substitution G A intron_variant MELA-AU 5 145338370 145338370 single base substitution C T intron_variant MELA-AU 5 145338419 145338419 single base substitution G A intron_variant MELA-AU 5 145338434 145338434 single base substitution C T intron_variant MELA-AU 5 145338539 145338539 single base substitution G A intron_variant MELA-AU 5 145338667 145338667 single base substitution G A intron_variant MELA-AU 5 145338683 145338683 single base substitution G A intron_variant MELA-AU 5 145338822 145338822 single base substitution G A intron_variant MELA-AU 5 145338846 145338846 single base substitution G A intron_variant MELA-AU 5 145338969 145338969 single base substitution G A intron_variant MELA-AU 5 145339276 145339276 single base substitution A C intron_variant MELA-AU 5 145339398 145339398 single base substitution G A intron_variant MELA-AU 5 145339404 145339404 single base substitution G A intron_variant MELA-AU 5 145339457 145339457 single base substitution C T intron_variant MELA-AU 5 145339759 145339759 single base substitution G A intron_variant MELA-AU 5 145339786 145339786 single base substitution A G intron_variant MELA-AU 5 145339839 145339839 single base substitution G A intron_variant MELA-AU 5 145339997 145339997 single base substitution C T intron_variant MELA-AU 5 145340003 145340003 single base substitution C T intron_variant MELA-AU 5 145340022 145340022 single base substitution C T intron_variant MELA-AU 5 145340333 145340333 single base substitution G T intron_variant MELA-AU 5 145340339 145340339 single base substitution G A intron_variant MELA-AU 5 145340491 145340491 single base substitution G A intron_variant MELA-AU 5 145340608 145340608 single base substitution C T intron_variant MELA-AU 5 145340670 145340670 single base substitution G A intron_variant MELA-AU 5 145340702 145340702 single base substitution G A intron_variant MELA-AU 5 145340904 145340904 single base substitution G A intron_variant MELA-AU 5 145341065 145341065 single base substitution G A intron_variant MELA-AU 5 145341324 145341325 multiple base substitution (>=2bp and <=200bp) CC TT intron_variant MELA-AU 5 145341423 145341423 single base substitution G A intron_variant MELA-AU 5 145341442 145341442 single base substitution G A intron_variant MELA-AU 5 145341472 145341472 single base substitution G A intron_variant MELA-AU 5 145341562 145341562 single base substitution C T intron_variant MELA-AU 5 145341619 145341619 single base substitution G A intron_variant MELA-AU 5 145341630 145341630 single base substitution G A intron_variant MELA-AU 5 145341725 145341725 single base substitution G A intron_variant MELA-AU 5 145341786 145341786 single base substitution G A intron_variant MELA-AU 5 145341959 145341959 single base substitution G A intron_variant MELA-AU 5 145342233 145342233 single base substitution C T intron_variant MELA-AU 5 145342809 145342809 single base substitution G A intron_variant MELA-AU 5 145342814 145342814 single base substitution G A intron_variant MELA-AU 5 145342818 145342818 single base substitution G A intron_variant MELA-AU 5 145342968 145342968 single base substitution C T intron_variant MELA-AU 5 145343057 145343057 single base substitution C T intron_variant MELA-AU 5 145343096 145343096 single base substitution G A intron_variant MELA-AU 5 145343120 145343120 single base substitution C T intron_variant MELA-AU 5 145343132 145343132 single base substitution G A intron_variant MELA-AU 5 145343258 145343258 single base substitution C T intron_variant MELA-AU 5 145343340 145343340 single base substitution A C intron_variant MELA-AU 5 145343440 145343440 single base substitution G A intron_variant MELA-AU 5 145343464 145343464 single base substitution C T intron_variant MELA-AU 5 145343498 145343498 single base substitution C T intron_variant MELA-AU 5 145343646 145343646 single base substitution C T intron_variant MELA-AU 5 145343664 145343664 single base substitution G A intron_variant MELA-AU 5 145343716 145343716 single base substitution C T intron_variant MELA-AU 5 145343717 145343717 single base substitution C T intron_variant MELA-AU 5 145343771 145343771 single base substitution C T intron_variant MELA-AU 5 145343828 145343828 single base substitution C T intron_variant MELA-AU 5 145343829 145343829 single base substitution C T intron_variant MELA-AU 5 145343838 145343838 single base substitution C T intron_variant MELA-AU 5 145344195 145344195 single base substitution C T intron_variant MELA-AU 5 145344286 145344286 single base substitution C T intron_variant MELA-AU 5 145344321 145344321 single base substitution C T intron_variant MELA-AU 5 145344333 145344333 single base substitution C T intron_variant MELA-AU 5 145344370 145344370 single base substitution C T intron_variant MELA-AU 5 145344402 145344402 single base substitution G A intron_variant MELA-AU 5 145344420 145344420 single base substitution C T intron_variant MELA-AU 5 145344452 145344452 single base substitution C T intron_variant MELA-AU 5 145344583 145344583 single base substitution C T intron_variant MELA-AU 5 145344638 145344638 single base substitution C T intron_variant MELA-AU 5 145344833 145344833 single base substitution C T intron_variant MELA-AU 5 145345080 145345080 single base substitution G A intron_variant MELA-AU 5 145345081 145345081 single base substitution G A intron_variant MELA-AU 5 145345184 145345184 single base substitution G A intron_variant MELA-AU 5 145345228 145345228 single base substitution C T intron_variant MELA-AU 5 145345326 145345326 single base substitution C T intron_variant MELA-AU 5 145345418 145345418 single base substitution C T intron_variant MELA-AU 5 145345519 145345519 single base substitution G A intron_variant MELA-AU 5 145345531 145345531 single base substitution G A intron_variant MELA-AU 5 145345637 145345637 single base substitution G A intron_variant MELA-AU 5 145345863 145345863 single base substitution G A intron_variant MELA-AU 5 145345898 145345898 single base substitution G A intron_variant MELA-AU 5 145345913 145345913 single base substitution C T intron_variant MELA-AU 5 145346248 145346248 single base substitution G A intron_variant MELA-AU 5 145346275 145346275 single base substitution G A intron_variant MELA-AU 5 145346285 145346285 single base substitution G A intron_variant MELA-AU 5 145346364 145346364 single base substitution C T intron_variant MELA-AU 5 145346411 145346411 single base substitution C T intron_variant MELA-AU 5 145346443 145346443 single base substitution G A intron_variant MELA-AU 5 145346561 145346561 single base substitution G A intron_variant MELA-AU 5 145346637 145346637 single base substitution C T intron_variant MELA-AU 5 145346679 145346679 single base substitution G A intron_variant MELA-AU 5 145346757 145346757 single base substitution G A intron_variant MELA-AU 5 145346832 145346832 single base substitution C T intron_variant MELA-AU 5 145346946 145346946 single base substitution C T intron_variant MELA-AU 5 145346960 145346960 single base substitution G A intron_variant MELA-AU 5 145347187 145347187 single base substitution G A intron_variant MELA-AU 5 145347193 145347193 single base substitution G A intron_variant MELA-AU 5 145347387 145347387 single base substitution G A intron_variant MELA-AU 5 145347491 145347491 single base substitution G A intron_variant MELA-AU 5 145347493 145347493 single base substitution G A intron_variant MELA-AU 5 145347631 145347631 single base substitution C T intron_variant MELA-AU 5 145347656 145347656 single base substitution C A intron_variant MELA-AU 5 145347684 145347684 single base substitution G A intron_variant MELA-AU 5 145347844 145347844 single base substitution A G intron_variant MELA-AU 5 145347895 145347895 single base substitution G A intron_variant MELA-AU 5 145347955 145347955 single base substitution C T intron_variant MELA-AU 5 145348161 145348161 deletion of <=200bp A - intron_variant MELA-AU 5 145348198 145348198 single base substitution A C intron_variant MELA-AU 5 145348220 145348220 single base substitution T A intron_variant MELA-AU 5 145348353 145348353 single base substitution T A intron_variant MELA-AU 5 145348447 145348447 single base substitution G A intron_variant MELA-AU 5 145348456 145348456 single base substitution G A intron_variant MELA-AU 5 145348843 145348843 single base substitution A G intron_variant MELA-AU 5 145348887 145348887 single base substitution G A intron_variant MELA-AU 5 145348954 145348954 single base substitution G A intron_variant MELA-AU 5 145348967 145348967 single base substitution G A intron_variant MELA-AU 5 145349173 145349173 single base substitution C T intron_variant MELA-AU 5 145349257 145349257 single base substitution C T intron_variant MELA-AU 5 145349352 145349352 single base substitution G A intron_variant MELA-AU 5 145349601 145349601 single base substitution G A intron_variant MELA-AU 5 145349639 145349639 single base substitution G A intron_variant MELA-AU 5 145349700 145349700 single base substitution C T intron_variant MELA-AU 5 145349704 145349704 single base substitution C T intron_variant MELA-AU 5 145349762 145349762 single base substitution G A intron_variant MELA-AU 5 145349859 145349859 single base substitution C T intron_variant MELA-AU 5 145349864 145349864 single base substitution G A intron_variant MELA-AU 5 145349946 145349946 single base substitution C T intron_variant MELA-AU 5 145350015 145350015 single base substitution C T intron_variant MELA-AU 5 145350082 145350082 single base substitution G A intron_variant MELA-AU 5 145350151 145350151 single base substitution G A intron_variant MELA-AU 5 145350203 145350203 single base substitution C T intron_variant MELA-AU 5 145350244 145350244 single base substitution A T intron_variant MELA-AU 5 145350353 145350353 single base substitution G A intron_variant MELA-AU 5 145350588 145350588 single base substitution C T intron_variant MELA-AU 5 145350619 145350619 single base substitution C T intron_variant MELA-AU 5 145350751 145350751 single base substitution G A intron_variant MELA-AU 5 145350773 145350773 single base substitution G A intron_variant MELA-AU 5 145350941 145350941 single base substitution G A intron_variant MELA-AU 5 145350992 145350992 single base substitution C T intron_variant MELA-AU 5 145351034 145351034 single base substitution C T intron_variant MELA-AU 5 145351049 145351049 single base substitution G A intron_variant MELA-AU 5 145351072 145351072 single base substitution G T intron_variant MELA-AU 5 145351155 145351155 single base substitution G A intron_variant MELA-AU 5 145351160 145351160 single base substitution G A intron_variant MELA-AU 5 145351164 145351164 single base substitution G A intron_variant MELA-AU 5 145351478 145351478 single base substitution A G intron_variant MELA-AU 5 145351534 145351534 single base substitution C T intron_variant MELA-AU 5 145351551 145351551 single base substitution G A intron_variant MELA-AU 5 145351702 145351702 single base substitution C T intron_variant MELA-AU 5 145351806 145351806 single base substitution A G intron_variant MELA-AU 5 145351825 145351825 single base substitution G A intron_variant MELA-AU 5 145351830 145351830 single base substitution T C intron_variant MELA-AU 5 145352056 145352056 single base substitution C T intron_variant MELA-AU 5 145352074 145352074 single base substitution C T intron_variant MELA-AU 5 145352315 145352315 single base substitution G A intron_variant MELA-AU 5 145352436 145352436 single base substitution G A intron_variant MELA-AU 5 145352537 145352537 single base substitution C T intron_variant MELA-AU 5 145352549 145352549 single base substitution G A intron_variant MELA-AU 5 145352600 145352601 multiple base substitution (>=2bp and <=200bp) GG AA intron_variant MELA-AU 5 145352710 145352710 single base substitution A C intron_variant MELA-AU 5 145352900 145352900 single base substitution G A intron_variant MELA-AU 5 145353181 145353182 multiple base substitution (>=2bp and <=200bp) CC TT intron_variant MELA-AU 5 145353291 145353291 single base substitution C T intron_variant MELA-AU 5 145353389 145353389 single base substitution G A intron_variant MELA-AU 5 145353417 145353417 single base substitution G A intron_variant MELA-AU 5 145353453 145353453 single base substitution G A intron_variant MELA-AU 5 145353459 145353459 single base substitution C T intron_variant MELA-AU 5 145353545 145353545 single base substitution G A intron_variant MELA-AU 5 145353549 145353549 single base substitution C T intron_variant MELA-AU 5 145353557 145353557 single base substitution G A intron_variant MELA-AU 5 145353563 145353563 single base substitution C T intron_variant MELA-AU 5 145353579 145353579 single base substitution C T intron_variant MELA-AU 5 145353617 145353617 single base substitution C T intron_variant MELA-AU 5 145353638 145353638 single base substitution C T intron_variant MELA-AU 5 145353670 145353670 single base substitution C T intron_variant MELA-AU 5 145353934 145353934 single base substitution G A intron_variant MELA-AU 5 145353940 145353940 single base substitution C A intron_variant MELA-AU 5 145354004 145354004 single base substitution C T intron_variant MELA-AU 5 145354017 145354017 single base substitution G A intron_variant MELA-AU 5 145354061 145354061 single base substitution G A intron_variant MELA-AU 5 145354135 145354135 single base substitution C T intron_variant MELA-AU 5 145354242 145354242 single base substitution C T intron_variant MELA-AU 5 145354268 145354268 single base substitution A T intron_variant MELA-AU 5 145354405 145354405 single base substitution A G intron_variant MELA-AU 5 145354479 145354479 single base substitution C T intron_variant MELA-AU 5 145354523 145354523 single base substitution C T intron_variant MELA-AU 5 145354686 145354686 single base substitution G A intron_variant MELA-AU 5 145354688 145354688 single base substitution G A intron_variant MELA-AU 5 145354703 145354704 multiple base substitution (>=2bp and <=200bp) GG AA intron_variant MELA-AU 5 145355231 145355231 single base substitution G A intron_variant MELA-AU 5 145355277 145355277 single base substitution G A intron_variant MELA-AU 5 145355313 145355313 single base substitution G A intron_variant MELA-AU 5 145355465 145355465 single base substitution G A intron_variant MELA-AU 5 145355769 145355769 single base substitution C T intron_variant MELA-AU 5 145355829 145355829 single base substitution C T intron_variant MELA-AU 5 145355830 145355830 single base substitution C T intron_variant MELA-AU 5 145356077 145356077 single base substitution G A intron_variant MELA-AU 5 145356454 145356454 single base substitution A G intron_variant MELA-AU 5 145356470 145356470 single base substitution G A intron_variant MELA-AU 5 145356643 145356643 single base substitution G A intron_variant MELA-AU 5 145356720 145356720 single base substitution G A intron_variant MELA-AU 5 145356851 145356851 single base substitution C T intron_variant MELA-AU 5 145356865 145356865 single base substitution G A intron_variant MELA-AU 5 145357030 145357030 single base substitution G A intron_variant MELA-AU 5 145357148 145357148 single base substitution C T intron_variant MELA-AU 5 145357564 145357564 single base substitution C T intron_variant MELA-AU 5 145357707 145357707 single base substitution G A intron_variant MELA-AU 5 145357808 145357808 single base substitution C T intron_variant MELA-AU 5 145357855 145357855 single base substitution C T intron_variant MELA-AU 5 145358029 145358029 single base substitution C T intron_variant MELA-AU 5 145358130 145358130 single base substitution C T intron_variant MELA-AU 5 145358261 145358261 single base substitution A G intron_variant MELA-AU 5 145358564 145358564 single base substitution G A intron_variant MELA-AU 5 145358606 145358606 single base substitution G A intron_variant MELA-AU 5 145358628 145358628 single base substitution G A intron_variant MELA-AU 5 145358739 145358739 single base substitution G A intron_variant MELA-AU 5 145358824 145358824 single base substitution G A intron_variant MELA-AU 5 145358863 145358863 single base substitution C T intron_variant MELA-AU 5 145358926 145358926 single base substitution G A intron_variant MELA-AU 5 145359122 145359122 single base substitution C T intron_variant MELA-AU 5 145359452 145359452 single base substitution T A intron_variant MELA-AU 5 145359588 145359588 single base substitution T A intron_variant MELA-AU 5 145359610 145359610 single base substitution G A intron_variant MELA-AU 5 145359706 145359706 single base substitution C T intron_variant MELA-AU 5 145359771 145359771 single base substitution G A intron_variant MELA-AU 5 145359821 145359821 single base substitution T C intron_variant MELA-AU 5 145360107 145360107 single base substitution G A intron_variant MELA-AU 5 145360387 145360387 single base substitution T A intron_variant MELA-AU 5 145360748 145360748 single base substitution C T intron_variant MELA-AU 5 145361093 145361093 single base substitution C T intron_variant MELA-AU 5 145361171 145361171 single base substitution C T intron_variant MELA-AU 5 145361390 145361390 single base substitution G A intron_variant MELA-AU 5 145361408 145361408 single base substitution C T intron_variant MELA-AU 5 145361468 145361468 single base substitution G A intron_variant MELA-AU 5 145361522 145361522 single base substitution C A intron_variant MELA-AU 5 145361707 145361707 single base substitution C T intron_variant MELA-AU 5 145361773 145361773 single base substitution A C intron_variant MELA-AU 5 145361821 145361821 single base substitution G A intron_variant MELA-AU 5 145361975 145361975 single base substitution G A intron_variant MELA-AU 5 145362089 145362089 single base substitution G A intron_variant MELA-AU 5 145362267 145362267 single base substitution G A intron_variant MELA-AU 5 145362316 145362316 single base substitution C T intron_variant MELA-AU 5 145362364 145362365 multiple base substitution (>=2bp and <=200bp) CC TT intron_variant MELA-AU 5 145362389 145362389 single base substitution G A intron_variant MELA-AU 5 145362422 145362422 single base substitution G A intron_variant MELA-AU 5 145362581 145362581 single base substitution C T intron_variant MELA-AU 5 145362632 145362632 single base substitution C T intron_variant MELA-AU 5 145362725 145362725 single base substitution C T intron_variant MELA-AU 5 145362924 145362924 single base substitution T C intron_variant MELA-AU 5 145362935 145362935 single base substitution G A intron_variant MELA-AU 5 145362981 145362981 single base substitution C T intron_variant MELA-AU 5 145363035 145363035 single base substitution C T intron_variant MELA-AU 5 145363049 145363049 single base substitution G A intron_variant MELA-AU 5 145363143 145363143 single base substitution C T intron_variant MELA-AU 5 145363630 145363630 single base substitution C T intron_variant MELA-AU 5 145363634 145363634 single base substitution C T intron_variant MELA-AU 5 145364072 145364072 single base substitution C T intron_variant MELA-AU 5 145364145 145364145 single base substitution G A intron_variant MELA-AU 5 145364171 145364171 single base substitution C A intron_variant MELA-AU 5 145364358 145364358 single base substitution G A intron_variant MELA-AU 5 145364455 145364455 single base substitution C T intron_variant MELA-AU 5 145364467 145364467 single base substitution C T intron_variant MELA-AU 5 145364578 145364578 single base substitution G A intron_variant MELA-AU 5 145364640 145364640 single base substitution G A intron_variant MELA-AU 5 145364688 145364688 single base substitution C T intron_variant MELA-AU 5 145364753 145364753 single base substitution G A intron_variant MELA-AU 5 145365025 145365025 single base substitution C A intron_variant MELA-AU 5 145365494 145365494 single base substitution G A intron_variant MELA-AU 5 145365566 145365566 insertion of <=200bp - AAATAAAT intron_variant MELA-AU 5 145365607 145365607 single base substitution A C intron_variant MELA-AU 5 145365629 145365629 single base substitution G A intron_variant MELA-AU 5 145365647 145365647 single base substitution C T intron_variant MELA-AU 5 145365730 145365730 single base substitution C T intron_variant MELA-AU 5 145365784 145365784 single base substitution C T intron_variant MELA-AU 5 145365792 145365792 single base substitution C T intron_variant MELA-AU 5 145365797 145365797 single base substitution G A intron_variant MELA-AU 5 145365965 145365965 single base substitution G A intron_variant MELA-AU 5 145366082 145366082 single base substitution C T intron_variant MELA-AU 5 145366102 145366102 single base substitution C T intron_variant MELA-AU 5 145366123 145366123 single base substitution C T intron_variant MELA-AU 5 145366160 145366160 single base substitution C T intron_variant MELA-AU 5 145366229 145366229 single base substitution C T intron_variant MELA-AU 5 145366280 145366280 single base substitution G A intron_variant MELA-AU 5 145366323 145366323 single base substitution G A intron_variant MELA-AU 5 145366352 145366352 single base substitution G A intron_variant MELA-AU 5 145366400 145366400 single base substitution A G intron_variant MELA-AU 5 145366462 145366462 single base substitution C T intron_variant MELA-AU 5 145366539 145366539 single base substitution G A intron_variant MELA-AU 5 145366616 145366616 single base substitution G A intron_variant MELA-AU 5 145366836 145366836 single base substitution G A intron_variant MELA-AU 5 145366906 145366906 single base substitution C T intron_variant MELA-AU 5 145366942 145366942 single base substitution C T intron_variant MELA-AU 5 145366999 145366999 single base substitution G A intron_variant MELA-AU 5 145367113 145367113 single base substitution C T intron_variant MELA-AU 5 145367233 145367233 single base substitution C T intron_variant MELA-AU 5 145367399 145367399 single base substitution C T intron_variant MELA-AU 5 145367434 145367434 single base substitution C T intron_variant MELA-AU 5 145367480 145367480 single base substitution C T intron_variant MELA-AU 5 145367486 145367486 single base substitution G A intron_variant MELA-AU 5 145367503 145367503 single base substitution C T intron_variant MELA-AU 5 145367511 145367511 single base substitution C T intron_variant MELA-AU 5 145367589 145367589 single base substitution C T intron_variant MELA-AU 5 145367593 145367593 single base substitution G A intron_variant MELA-AU 5 145367683 145367683 single base substitution G A intron_variant MELA-AU 5 145367894 145367894 single base substitution C T intron_variant MELA-AU 5 145367934 145367934 single base substitution C T intron_variant MELA-AU 5 145367955 145367955 single base substitution C T intron_variant MELA-AU 5 145367998 145367998 single base substitution G A intron_variant MELA-AU 5 145368077 145368077 single base substitution T G intron_variant MELA-AU 5 145368134 145368134 single base substitution C T intron_variant MELA-AU 5 145368140 145368140 single base substitution G A intron_variant MELA-AU 5 145368372 145368372 single base substitution C T intron_variant MELA-AU 5 145368411 145368411 single base substitution C T intron_variant MELA-AU 5 145368429 145368429 single base substitution G A intron_variant MELA-AU 5 145368478 145368478 single base substitution C T intron_variant MELA-AU 5 145368602 145368603 multiple base substitution (>=2bp and <=200bp) GG AA intron_variant MELA-AU 5 145368617 145368617 single base substitution G A intron_variant MELA-AU 5 145368631 145368631 single base substitution C T intron_variant MELA-AU 5 145368690 145368690 single base substitution T C intron_variant MELA-AU 5 145368865 145368865 single base substitution C T intron_variant MELA-AU 5 145368873 145368873 single base substitution C T intron_variant MELA-AU 5 145369020 145369020 single base substitution C T intron_variant MELA-AU 5 145369086 145369086 single base substitution C T intron_variant MELA-AU 5 145369184 145369184 single base substitution C T intron_variant MELA-AU 5 145369260 145369260 single base substitution G A intron_variant MELA-AU 5 145369372 145369372 single base substitution C T intron_variant MELA-AU 5 145369436 145369436 single base substitution C T intron_variant MELA-AU 5 145369467 145369467 single base substitution G A intron_variant MELA-AU 5 145369495 145369495 single base substitution G A intron_variant MELA-AU 5 145369584 145369584 single base substitution G A intron_variant MELA-AU 5 145369617 145369617 single base substitution C T intron_variant MELA-AU 5 145369818 145369818 single base substitution G A intron_variant MELA-AU 5 145369916 145369916 single base substitution G A intron_variant MELA-AU 5 145369963 145369963 single base substitution T C intron_variant MELA-AU 5 145370053 145370053 single base substitution G A intron_variant MELA-AU 5 145370059 145370059 single base substitution G A intron_variant MELA-AU 5 145370067 145370067 single base substitution G A intron_variant MELA-AU 5 145370216 145370216 single base substitution C T intron_variant MELA-AU 5 145370287 145370287 single base substitution C T intron_variant MELA-AU 5 145370306 145370306 single base substitution G A intron_variant MELA-AU 5 145370330 145370330 single base substitution G A intron_variant MELA-AU 5 145370383 145370383 single base substitution C T intron_variant MELA-AU 5 145370384 145370384 single base substitution C T intron_variant MELA-AU 5 145370430 145370430 single base substitution G A intron_variant MELA-AU 5 145370477 145370477 single base substitution G A intron_variant MELA-AU 5 145370503 145370503 single base substitution G A intron_variant MELA-AU 5 145370540 145370540 single base substitution C T intron_variant MELA-AU 5 145370629 145370629 single base substitution C T intron_variant MELA-AU 5 145370630 145370630 single base substitution G A intron_variant MELA-AU 5 145370636 145370636 single base substitution G A intron_variant MELA-AU 5 145370665 145370665 single base substitution G A intron_variant MELA-AU 5 145370677 145370677 single base substitution G A intron_variant MELA-AU 5 145370933 145370933 single base substitution A C intron_variant MELA-AU 5 145370978 145370978 single base substitution C T intron_variant MELA-AU 5 145371007 145371007 single base substitution C T intron_variant MELA-AU 5 145371019 145371019 single base substitution C T intron_variant MELA-AU 5 145371120 145371120 single base substitution G A intron_variant MELA-AU 5 145371217 145371217 single base substitution G A intron_variant MELA-AU 5 145371549 145371549 single base substitution G A intron_variant MELA-AU 5 145371682 145371682 single base substitution C T intron_variant MELA-AU 5 145371764 145371764 single base substitution G A intron_variant MELA-AU 5 145371783 145371783 single base substitution A T intron_variant MELA-AU 5 145371835 145371835 single base substitution G A intron_variant MELA-AU 5 145371852 145371852 single base substitution C T intron_variant MELA-AU 5 145371879 145371879 single base substitution G A intron_variant MELA-AU 5 145371893 145371893 single base substitution G A intron_variant MELA-AU 5 145371951 145371951 single base substitution G A intron_variant MELA-AU 5 145371997 145371997 single base substitution C T intron_variant MELA-AU 5 145372171 145372171 single base substitution G A intron_variant MELA-AU 5 145372372 145372372 single base substitution G A intron_variant MELA-AU 5 145372392 145372392 single base substitution C T intron_variant MELA-AU 5 145372510 145372510 single base substitution C T intron_variant MELA-AU 5 145372595 145372595 single base substitution G A intron_variant MELA-AU 5 145372596 145372596 single base substitution G T intron_variant MELA-AU 5 145372605 145372605 single base substitution G A intron_variant MELA-AU 5 145372685 145372685 single base substitution C T intron_variant MELA-AU 5 145372776 145372776 single base substitution C T intron_variant MELA-AU 5 145372778 145372778 single base substitution C T intron_variant MELA-AU 5 145372855 145372855 single base substitution C G intron_variant MELA-AU 5 145372855 145372855 single base substitution C T intron_variant MELA-AU 5 145372856 145372856 single base substitution C A intron_variant MELA-AU 5 145372956 145372956 single base substitution C T intron_variant MELA-AU 5 145372984 145372984 single base substitution C T intron_variant MELA-AU 5 145373021 145373021 single base substitution C T intron_variant MELA-AU 5 145373085 145373085 single base substitution G A intron_variant MELA-AU 5 145373186 145373186 single base substitution G A intron_variant MELA-AU 5 145373207 145373207 single base substitution C T intron_variant MELA-AU 5 145373290 145373290 single base substitution C T intron_variant MELA-AU 5 145373307 145373307 single base substitution C T intron_variant MELA-AU 5 145373335 145373335 single base substitution G A intron_variant MELA-AU 5 145373367 145373367 single base substitution G A intron_variant MELA-AU 5 145373369 145373369 single base substitution G A intron_variant MELA-AU 5 145373476 145373476 single base substitution G A intron_variant MELA-AU 5 145373515 145373515 single base substitution C T intron_variant MELA-AU 5 145373535 145373535 single base substitution C T intron_variant MELA-AU 5 145373608 145373608 single base substitution C T intron_variant MELA-AU 5 145373725 145373725 single base substitution C T intron_variant MELA-AU 5 145373750 145373750 single base substitution G A intron_variant MELA-AU 5 145373981 145373981 single base substitution C T intron_variant MELA-AU 5 145373987 145373987 single base substitution C T intron_variant MELA-AU 5 145374028 145374028 single base substitution G A intron_variant MELA-AU 5 145374130 145374130 single base substitution G A intron_variant MELA-AU 5 145374222 145374222 single base substitution C T intron_variant MELA-AU 5 145374226 145374226 single base substitution G A intron_variant MELA-AU 5 145374266 145374266 single base substitution G A intron_variant MELA-AU 5 145374505 145374505 single base substitution C T intron_variant MELA-AU 5 145374671 145374671 single base substitution G A intron_variant MELA-AU 5 145374689 145374689 single base substitution C T intron_variant MELA-AU 5 145374772 145374772 single base substitution G A intron_variant MELA-AU 5 145374781 145374781 single base substitution G A intron_variant MELA-AU 5 145374877 145374877 single base substitution C T intron_variant MELA-AU 5 145374957 145374957 single base substitution C T intron_variant MELA-AU 5 145374980 145374980 single base substitution G A intron_variant MELA-AU 5 145375093 145375093 single base substitution C T intron_variant MELA-AU 5 145375108 145375109 multiple base substitution (>=2bp and <=200bp) TT CC intron_variant MELA-AU 5 145375122 145375122 single base substitution C T intron_variant MELA-AU 5 145375230 145375230 single base substitution A G intron_variant MELA-AU 5 145375327 145375327 single base substitution C T intron_variant MELA-AU 5 145375361 145375361 single base substitution G A intron_variant MELA-AU 5 145375593 145375593 single base substitution C T intron_variant MELA-AU 5 145375625 145375625 single base substitution C T intron_variant MELA-AU 5 145375637 145375637 single base substitution C T intron_variant MELA-AU 5 145375640 145375640 single base substitution C T intron_variant MELA-AU 5 145375921 145375921 single base substitution C T intron_variant MELA-AU 5 145375998 145375998 single base substitution A T intron_variant MELA-AU 5 145376080 145376080 single base substitution G A intron_variant MELA-AU 5 145376101 145376101 single base substitution G A intron_variant MELA-AU 5 145376319 145376319 single base substitution C T intron_variant MELA-AU 5 145376320 145376320 single base substitution C T intron_variant MELA-AU 5 145376692 145376692 single base substitution C T intron_variant MELA-AU 5 145376732 145376732 single base substitution C T intron_variant MELA-AU 5 145377342 145377342 single base substitution C T intron_variant MELA-AU 5 145377363 145377363 single base substitution A T intron_variant MELA-AU 5 145377384 145377384 single base substitution G A intron_variant MELA-AU 5 145377451 145377451 single base substitution G A intron_variant MELA-AU 5 145377635 145377635 single base substitution G A intron_variant MELA-AU 5 145377784 145377784 single base substitution G A intron_variant MELA-AU 5 145378010 145378010 single base substitution C T intron_variant MELA-AU 5 145378028 145378028 single base substitution C T intron_variant MELA-AU 5 145378062 145378062 single base substitution G A intron_variant MELA-AU 5 145378142 145378142 single base substitution A T intron_variant MELA-AU 5 145378251 145378251 single base substitution G C intron_variant MELA-AU 5 145378271 145378271 single base substitution C T intron_variant MELA-AU 5 145378308 145378308 single base substitution C T intron_variant MELA-AU 5 145378598 145378598 single base substitution A C intron_variant MELA-AU 5 145378609 145378609 single base substitution G A intron_variant MELA-AU 5 145378707 145378707 single base substitution G A intron_variant MELA-AU 5 145378801 145378801 single base substitution G A intron_variant MELA-AU 5 145378891 145378891 single base substitution C T intron_variant MELA-AU 5 145378959 145378959 single base substitution C T intron_variant MELA-AU 5 145379213 145379213 single base substitution G A intron_variant MELA-AU 5 145379347 145379347 single base substitution C T intron_variant MELA-AU 5 145379688 145379688 single base substitution G A missense_variant G149E 446G>A MELA-AU 5 145379738 145379738 single base substitution G A missense_variant E166K 496G>A MELA-AU 5 145379754 145379754 single base substitution G A missense_variant S171N 512G>A MELA-AU 5 145379836 145379836 single base substitution C T synonymous_variant F198F 594C>T MELA-AU 5 145379884 145379884 single base substitution C T synonymous_variant F214F 642C>T MELA-AU 5 145379906 145379906 single base substitution G A intron_variant MELA-AU 5 145380201 145380201 single base substitution C T intron_variant MELA-AU 5 145380205 145380205 single base substitution C T intron_variant MELA-AU 5 145380282 145380282 single base substitution G A intron_variant MELA-AU 5 145380318 145380318 single base substitution G A intron_variant MELA-AU 5 145380320 145380320 single base substitution T A intron_variant MELA-AU 5 145380425 145380425 single base substitution G A intron_variant MELA-AU 5 145380614 145380614 single base substitution C T intron_variant MELA-AU 5 145380832 145380832 single base substitution C T intron_variant MELA-AU 5 145381275 145381275 single base substitution C T intron_variant MELA-AU 5 145381353 145381353 single base substitution G A intron_variant MELA-AU 5 145381468 145381468 single base substitution C T intron_variant MELA-AU 5 145381477 145381477 single base substitution C T intron_variant MELA-AU 5 145381695 145381695 single base substitution G A intron_variant MELA-AU 5 145381819 145381819 single base substitution G A intron_variant MELA-AU 5 145381835 145381835 single base substitution G A intron_variant MELA-AU 5 145381888 145381888 single base substitution C T intron_variant MELA-AU 5 145381915 145381915 single base substitution G A intron_variant MELA-AU 5 145381941 145381941 single base substitution G A intron_variant MELA-AU 5 145381968 145381968 single base substitution C T intron_variant MELA-AU 5 145381982 145381982 single base substitution C T intron_variant MELA-AU 5 145382172 145382172 single base substitution C T intron_variant MELA-AU 5 145382190 145382190 single base substitution G A intron_variant MELA-AU 5 145382216 145382216 single base substitution G A intron_variant MELA-AU 5 145382364 145382364 single base substitution G A intron_variant MELA-AU 5 145382402 145382402 single base substitution G A intron_variant MELA-AU 5 145382440 145382440 single base substitution C T intron_variant MELA-AU 5 145382473 145382473 single base substitution C T intron_variant MELA-AU 5 145382699 145382699 single base substitution G A intron_variant MELA-AU 5 145382718 145382718 single base substitution G A intron_variant MELA-AU 5 145382744 145382744 single base substitution C T intron_variant MELA-AU 5 145382774 145382774 single base substitution G A intron_variant MELA-AU 5 145382845 145382845 single base substitution G A intron_variant MELA-AU 5 145382860 145382860 single base substitution G A intron_variant MELA-AU 5 145382867 145382867 single base substitution C T intron_variant MELA-AU 5 145383048 145383048 single base substitution G A intron_variant MELA-AU 5 145383110 145383110 single base substitution C T intron_variant MELA-AU 5 145383124 145383124 single base substitution C T intron_variant MELA-AU 5 145383289 145383289 single base substitution C T intron_variant MELA-AU 5 145383302 145383302 single base substitution C T intron_variant MELA-AU 5 145383314 145383314 single base substitution C T intron_variant MELA-AU 5 145383398 145383398 single base substitution C T intron_variant MELA-AU 5 145383401 145383401 single base substitution T G intron_variant MELA-AU 5 145383545 145383545 single base substitution C T intron_variant MELA-AU 5 145383552 145383552 single base substitution G A intron_variant MELA-AU 5 145383579 145383579 single base substitution G A intron_variant MELA-AU 5 145383796 145383796 single base substitution C T intron_variant MELA-AU 5 145383887 145383887 single base substitution G A intron_variant MELA-AU 5 145383897 145383897 single base substitution T A intron_variant MELA-AU 5 145384007 145384007 single base substitution C T intron_variant MELA-AU 5 145384159 145384159 single base substitution T G intron_variant MELA-AU 5 145384214 145384214 single base substitution C T intron_variant MELA-AU 5 145384328 145384328 single base substitution T C intron_variant MELA-AU 5 145384413 145384413 single base substitution C T intron_variant MELA-AU 5 145384541 145384541 single base substitution A T intron_variant MELA-AU 5 145384591 145384591 single base substitution C T intron_variant MELA-AU 5 145384643 145384643 single base substitution C T intron_variant MELA-AU 5 145384652 145384652 single base substitution C T intron_variant MELA-AU 5 145384680 145384680 single base substitution G A intron_variant MELA-AU 5 145385128 145385128 single base substitution G A intron_variant MELA-AU 5 145385192 145385192 single base substitution C T intron_variant MELA-AU 5 145385331 145385331 single base substitution C T intron_variant MELA-AU 5 145385688 145385688 single base substitution C T intron_variant MELA-AU 5 145385770 145385770 single base substitution G A intron_variant MELA-AU 5 145385917 145385918 multiple base substitution (>=2bp and <=200bp) GT AG intron_variant MELA-AU 5 145386003 145386003 single base substitution G A intron_variant MELA-AU 5 145386145 145386145 single base substitution G A intron_variant MELA-AU 5 145386165 145386165 single base substitution G A intron_variant MELA-AU 5 145386311 145386311 single base substitution C T intron_variant MELA-AU 5 145386563 145386563 single base substitution C T intron_variant MELA-AU 5 145386599 145386599 single base substitution G A intron_variant MELA-AU 5 145386671 145386671 single base substitution C T intron_variant MELA-AU 5 145386700 145386700 single base substitution C A intron_variant MELA-AU 5 145386799 145386799 single base substitution A G intron_variant MELA-AU 5 145386929 145386929 single base substitution G A intron_variant MELA-AU 5 145386986 145386986 single base substitution A G intron_variant MELA-AU 5 145387195 145387195 single base substitution C T intron_variant MELA-AU 5 145387354 145387355 multiple base substitution (>=2bp and <=200bp) GG AA intron_variant MELA-AU 5 145387355 145387355 single base substitution G A intron_variant MELA-AU 5 145387361 145387361 single base substitution G A intron_variant MELA-AU 5 145387386 145387386 single base substitution G A intron_variant MELA-AU 5 145387399 145387399 single base substitution T C intron_variant MELA-AU 5 145387412 145387412 single base substitution G A intron_variant MELA-AU 5 145387493 145387493 single base substitution C T intron_variant MELA-AU 5 145387540 145387540 single base substitution G A intron_variant MELA-AU 5 145387702 145387702 single base substitution G A intron_variant MELA-AU 5 145387813 145387813 single base substitution C T intron_variant MELA-AU 5 145387868 145387868 single base substitution G A intron_variant MELA-AU 5 145387963 145387963 single base substitution C T intron_variant MELA-AU 5 145388037 145388037 single base substitution G A intron_variant MELA-AU 5 145388047 145388047 single base substitution G A intron_variant MELA-AU 5 145388103 145388103 single base substitution G A intron_variant MELA-AU 5 145388163 145388163 single base substitution C T intron_variant MELA-AU 5 145388337 145388337 single base substitution C T intron_variant MELA-AU 5 145388474 145388474 single base substitution C T intron_variant MELA-AU 5 145388493 145388493 single base substitution G A intron_variant MELA-AU 5 145388554 145388554 single base substitution C T intron_variant MELA-AU 5 145388612 145388612 single base substitution T C intron_variant MELA-AU 5 145388927 145388928 multiple base substitution (>=2bp and <=200bp) CC TT intron_variant MELA-AU 5 145389001 145389001 single base substitution C T intron_variant MELA-AU 5 145389015 145389015 single base substitution C T intron_variant MELA-AU 5 145389377 145389377 single base substitution C T intron_variant MELA-AU 5 145389551 145389551 single base substitution C T intron_variant MELA-AU 5 145389562 145389562 single base substitution G A intron_variant MELA-AU 5 145389846 145389846 single base substitution G A intron_variant MELA-AU 5 145389881 145389881 single base substitution G A intron_variant MELA-AU 5 145389969 145389969 single base substitution G A intron_variant MELA-AU 5 145390001 145390001 single base substitution C T intron_variant MELA-AU 5 145390080 145390080 single base substitution T A intron_variant MELA-AU 5 145390090 145390090 single base substitution C T intron_variant MELA-AU 5 145390110 145390110 single base substitution C T intron_variant MELA-AU 5 145390141 145390141 single base substitution G A intron_variant MELA-AU 5 145390157 145390157 single base substitution C T intron_variant MELA-AU 5 145390240 145390240 single base substitution C T intron_variant MELA-AU 5 145390453 145390453 single base substitution C T intron_variant MELA-AU 5 145390505 145390505 single base substitution G A intron_variant MELA-AU 5 145390517 145390517 single base substitution C T intron_variant MELA-AU 5 145390721 145390721 single base substitution T G intron_variant MELA-AU 5 145390785 145390785 single base substitution C T intron_variant MELA-AU 5 145390796 145390796 single base substitution G A intron_variant MELA-AU 5 145391048 145391048 single base substitution C T intron_variant MELA-AU 5 145391195 145391195 single base substitution C T intron_variant MELA-AU 5 145391200 145391200 single base substitution A T intron_variant MELA-AU 5 145391274 145391274 single base substitution G A intron_variant MELA-AU 5 145391303 145391303 single base substitution G A intron_variant MELA-AU 5 145391738 145391738 single base substitution G A intron_variant MELA-AU 5 145391760 145391760 single base substitution A G intron_variant MELA-AU 5 145391927 145391927 single base substitution G A intron_variant MELA-AU 5 145391990 145391990 single base substitution C T intron_variant MELA-AU 5 145392125 145392125 single base substitution G A intron_variant MELA-AU 5 145392137 145392137 single base substitution T C intron_variant MELA-AU 5 145392139 145392139 single base substitution C T intron_variant MELA-AU 5 145392158 145392158 single base substitution G A intron_variant MELA-AU 5 145392296 145392296 single base substitution G A intron_variant MELA-AU 5 145392439 145392439 single base substitution G A intron_variant MELA-AU 5 145392453 145392453 single base substitution C T intron_variant MELA-AU 5 145392463 145392463 single base substitution C T intron_variant MELA-AU 5 145392595 145392595 single base substitution G A intron_variant MELA-AU 5 145392628 145392628 single base substitution G A intron_variant MELA-AU 5 145392657 145392657 single base substitution G A intron_variant MELA-AU 5 145392701 145392701 single base substitution G A intron_variant MELA-AU 5 145392777 145392777 single base substitution G A intron_variant MELA-AU 5 145392781 145392781 single base substitution C T intron_variant MELA-AU 5 145392817 145392817 single base substitution G A intron_variant MELA-AU 5 145392861 145392861 single base substitution G A intron_variant MELA-AU 5 145392873 145392873 single base substitution G A intron_variant MELA-AU 5 145392925 145392925 single base substitution C T intron_variant MELA-AU 5 145392933 145392933 single base substitution G A intron_variant MELA-AU 5 145393014 145393014 single base substitution G A intron_variant MELA-AU 5 145393060 145393060 single base substitution C T intron_variant MELA-AU 5 145393147 145393147 single base substitution G A intron_variant MELA-AU 5 145393194 145393194 single base substitution G A intron_variant MELA-AU 5 145393248 145393248 single base substitution G A intron_variant MELA-AU 5 145393307 145393307 single base substitution C T splice_region_variant MELA-AU 5 145393339 145393339 single base substitution G A synonymous_variant E258E 774G>A MELA-AU 5 145393426 145393426 single base substitution G A synonymous_variant R287R 861G>A MELA-AU 5 145393427 145393427 single base substitution G A missense_variant G288S 862G>A MELA-AU 5 145393495 145393495 single base substitution G A synonymous_variant R310R 930G>A MELA-AU 5 145393508 145393508 single base substitution C T missense_variant P315S 943C>T MELA-AU 5 145393609 145393609 single base substitution C T synonymous_variant S348S 1044C>T MELA-AU 5 145393793 145393793 single base substitution C T intron_variant MELA-AU 5 145393854 145393854 single base substitution T C intron_variant MELA-AU 5 145393878 145393878 single base substitution T C intron_variant MELA-AU 5 145393930 145393930 single base substitution C T intron_variant MELA-AU 5 145393940 145393940 single base substitution C T intron_variant MELA-AU 5 145393967 145393967 single base substitution G A intron_variant MELA-AU 5 145394098 145394098 single base substitution G A intron_variant MELA-AU 5 145394410 145394410 single base substitution G T intron_variant MELA-AU 5 145394497 145394497 single base substitution G T intron_variant MELA-AU 5 145394624 145394624 single base substitution T A intron_variant MELA-AU 5 145394771 145394771 single base substitution G A intron_variant MELA-AU 5 145394913 145394913 single base substitution C T intron_variant MELA-AU 5 145395233 145395233 single base substitution T C intron_variant MELA-AU 5 145395260 145395260 single base substitution G A intron_variant MELA-AU 5 145395362 145395362 single base substitution C T intron_variant MELA-AU 5 145395398 145395398 single base substitution C G intron_variant MELA-AU 5 145395733 145395733 single base substitution C T intron_variant MELA-AU 5 145396150 145396150 single base substitution G A intron_variant MELA-AU 5 145396343 145396343 single base substitution C T intron_variant MELA-AU 5 145396493 145396493 single base substitution G A intron_variant MELA-AU 5 145396628 145396628 single base substitution G A intron_variant MELA-AU 5 145396639 145396639 single base substitution C T intron_variant MELA-AU 5 145396703 145396703 single base substitution G A intron_variant MELA-AU 5 145396815 145396815 single base substitution G A intron_variant MELA-AU 5 145396819 145396819 single base substitution G T intron_variant MELA-AU 5 145397066 145397066 single base substitution C T intron_variant MELA-AU 5 145397127 145397127 single base substitution C T intron_variant MELA-AU 5 145397647 145397647 single base substitution C T intron_variant MELA-AU 5 145397824 145397824 single base substitution C T intron_variant MELA-AU 5 145397925 145397925 single base substitution C T intron_variant MELA-AU 5 145397961 145397961 single base substitution C T intron_variant MELA-AU 5 145398206 145398206 single base substitution G A intron_variant MELA-AU 5 145398354 145398354 single base substitution C T intron_variant MELA-AU 5 145398434 145398434 single base substitution C T intron_variant MELA-AU 5 145398555 145398555 single base substitution C T intron_variant MELA-AU 5 145398607 145398607 single base substitution T A intron_variant MELA-AU 5 145398612 145398612 single base substitution C T intron_variant MELA-AU 5 145398812 145398812 single base substitution G A intron_variant MELA-AU 5 145398829 145398829 single base substitution C T intron_variant MELA-AU 5 145399020 145399020 single base substitution C T intron_variant MELA-AU 5 145399092 145399092 single base substitution G A intron_variant MELA-AU 5 145399176 145399176 single base substitution G A intron_variant MELA-AU 5 145399185 145399185 single base substitution G A intron_variant MELA-AU 5 145399365 145399365 single base substitution T C intron_variant MELA-AU 5 145399516 145399516 single base substitution G A intron_variant MELA-AU 5 145399679 145399679 single base substitution G A intron_variant MELA-AU 5 145399698 145399698 single base substitution G A intron_variant MELA-AU 5 145399734 145399734 single base substitution C T intron_variant MELA-AU 5 145399807 145399807 single base substitution C T intron_variant MELA-AU 5 145399897 145399897 single base substitution C T intron_variant MELA-AU 5 145399988 145399988 single base substitution T C intron_variant MELA-AU 5 145399994 145399994 single base substitution G A intron_variant MELA-AU 5 145400276 145400276 single base substitution G A intron_variant MELA-AU 5 145400430 145400430 single base substitution C T intron_variant MELA-AU 5 145400438 145400438 single base substitution G A intron_variant MELA-AU 5 145400475 145400475 single base substitution C T intron_variant MELA-AU 5 145400565 145400565 single base substitution C T intron_variant MELA-AU 5 145400725 145400725 single base substitution C T intron_variant MELA-AU 5 145400906 145400906 single base substitution C T intron_variant MELA-AU 5 145400952 145400952 single base substitution C T intron_variant MELA-AU 5 145400958 145400958 single base substitution C T intron_variant MELA-AU 5 145401220 145401220 single base substitution G T intron_variant MELA-AU 5 145401308 145401308 single base substitution A G intron_variant MELA-AU 5 145401767 145401767 single base substitution C T intron_variant MELA-AU 5 145401819 145401819 single base substitution G A intron_variant MELA-AU 5 145401955 145401955 single base substitution G A intron_variant MELA-AU 5 145402057 145402057 single base substitution C T intron_variant MELA-AU 5 145402062 145402062 single base substitution C T intron_variant MELA-AU 5 145402075 145402075 single base substitution A T intron_variant MELA-AU 5 145402228 145402228 single base substitution G A intron_variant MELA-AU 5 145402491 145402491 single base substitution C T intron_variant MELA-AU 5 145402566 145402566 single base substitution G A intron_variant MELA-AU 5 145402617 145402617 single base substitution C T intron_variant MELA-AU 5 145402625 145402625 single base substitution T C intron_variant MELA-AU 5 145402633 145402633 single base substitution C T intron_variant MELA-AU 5 145402769 145402769 single base substitution C T intron_variant MELA-AU 5 145402776 145402776 single base substitution C T intron_variant MELA-AU 5 145402866 145402866 single base substitution G A intron_variant MELA-AU 5 145402906 145402906 single base substitution G A intron_variant MELA-AU 5 145403085 145403085 single base substitution C T intron_variant MELA-AU 5 145403119 145403119 single base substitution C T intron_variant MELA-AU 5 145403126 145403126 single base substitution A G intron_variant MELA-AU 5 145403147 145403147 single base substitution C T intron_variant MELA-AU 5 145403207 145403207 single base substitution C T intron_variant MELA-AU 5 145403269 145403269 single base substitution C T intron_variant MELA-AU 5 145403284 145403284 single base substitution G A intron_variant MELA-AU 5 145403312 145403312 single base substitution C T intron_variant MELA-AU 5 145403328 145403328 single base substitution C T intron_variant MELA-AU 5 145403346 145403346 single base substitution G A intron_variant MELA-AU 5 145403508 145403508 single base substitution C T intron_variant MELA-AU 5 145403623 145403623 single base substitution C G intron_variant MELA-AU 5 145403721 145403721 single base substitution G A intron_variant MELA-AU 5 145404068 145404068 single base substitution C T intron_variant MELA-AU 5 145404311 145404311 single base substitution C T intron_variant MELA-AU 5 145404465 145404465 single base substitution C T intron_variant MELA-AU 5 145404756 145404756 single base substitution C T intron_variant MELA-AU 5 145404788 145404788 single base substitution C T intron_variant MELA-AU 5 145404826 145404826 single base substitution C T intron_variant MELA-AU 5 145404833 145404833 single base substitution G A intron_variant MELA-AU 5 145404862 145404862 single base substitution C T intron_variant MELA-AU 5 145405035 145405035 single base substitution G A intron_variant MELA-AU 5 145405160 145405160 single base substitution G A intron_variant MELA-AU 5 145405446 145405446 single base substitution A T intron_variant MELA-AU 5 145405467 145405467 single base substitution C T intron_variant MELA-AU 5 145405539 145405539 single base substitution C T intron_variant MELA-AU 5 145405609 145405609 single base substitution G A intron_variant MELA-AU 5 145405697 145405697 single base substitution G A intron_variant MELA-AU 5 145405925 145405925 single base substitution G A intron_variant MELA-AU 5 145406123 145406123 single base substitution G A intron_variant MELA-AU 5 145406130 145406130 single base substitution C T intron_variant MELA-AU 5 145406164 145406164 single base substitution G A intron_variant MELA-AU 5 145406171 145406171 single base substitution T A intron_variant MELA-AU 5 145406312 145406312 single base substitution G A intron_variant MELA-AU 5 145406365 145406366 multiple base substitution (>=2bp and <=200bp) CC TT intron_variant MELA-AU 5 145406419 145406419 single base substitution C T intron_variant MELA-AU 5 145406575 145406576 multiple base substitution (>=2bp and <=200bp) CC TT intron_variant MELA-AU 5 145406642 145406642 single base substitution G A intron_variant MELA-AU 5 145406685 145406685 single base substitution C T intron_variant MELA-AU 5 145407213 145407213 single base substitution G A intron_variant MELA-AU 5 145407298 145407298 single base substitution C T intron_variant MELA-AU 5 145407319 145407319 single base substitution C T intron_variant MELA-AU 5 145407520 145407520 single base substitution G A intron_variant MELA-AU 5 145407561 145407561 single base substitution C T intron_variant MELA-AU 5 145407601 145407601 single base substitution G A intron_variant MELA-AU 5 145407621 145407621 single base substitution G A intron_variant MELA-AU 5 145407668 145407668 single base substitution C T intron_variant MELA-AU 5 145407783 145407783 single base substitution C T intron_variant MELA-AU 5 145407794 145407794 single base substitution G A intron_variant MELA-AU 5 145407820 145407820 single base substitution G A intron_variant MELA-AU 5 145407904 145407904 single base substitution G A intron_variant MELA-AU 5 145408134 145408134 single base substitution C T intron_variant MELA-AU 5 145408143 145408143 single base substitution C T intron_variant MELA-AU 5 145408565 145408565 single base substitution G A intron_variant MELA-AU 5 145408650 145408650 single base substitution C T intron_variant MELA-AU 5 145408714 145408714 single base substitution C T intron_variant MELA-AU 5 145408733 145408733 single base substitution C T intron_variant MELA-AU 5 145408763 145408763 single base substitution G A intron_variant MELA-AU 5 145409080 145409080 single base substitution G A intron_variant MELA-AU 5 145409107 145409107 single base substitution C T intron_variant MELA-AU 5 145409191 145409191 single base substitution C T intron_variant MELA-AU 5 145409193 145409193 single base substitution G A intron_variant MELA-AU 5 145409319 145409319 single base substitution G A intron_variant MELA-AU 5 145409457 145409457 single base substitution G A intron_variant MELA-AU 5 145409493 145409493 single base substitution C T intron_variant MELA-AU 5 145409515 145409516 multiple base substitution (>=2bp and <=200bp) GG AA intron_variant MELA-AU 5 145409537 145409537 single base substitution G A intron_variant MELA-AU 5 145409618 145409618 single base substitution C T intron_variant MELA-AU 5 145409627 145409627 single base substitution C T intron_variant MELA-AU 5 145409777 145409777 single base substitution A G intron_variant MELA-AU 5 145409795 145409795 single base substitution C T intron_variant MELA-AU 5 145409999 145409999 single base substitution G A intron_variant MELA-AU 5 145410063 145410063 single base substitution C T intron_variant MELA-AU 5 145410197 145410197 single base substitution C T intron_variant MELA-AU 5 145410678 145410678 single base substitution G A intron_variant MELA-AU 5 145410686 145410686 single base substitution G A intron_variant MELA-AU 5 145410818 145410818 single base substitution C T intron_variant MELA-AU 5 145410843 145410843 single base substitution C T intron_variant MELA-AU 5 145410884 145410884 single base substitution G A intron_variant MELA-AU 5 145411042 145411042 single base substitution G A intron_variant MELA-AU 5 145411073 145411073 single base substitution G A intron_variant MELA-AU 5 145411102 145411102 single base substitution G A intron_variant MELA-AU 5 145411109 145411109 single base substitution G A intron_variant MELA-AU 5 145411180 145411180 single base substitution G T intron_variant MELA-AU 5 145411357 145411357 single base substitution C T intron_variant MELA-AU 5 145411511 145411511 single base substitution C T intron_variant MELA-AU 5 145411571 145411571 single base substitution C T intron_variant MELA-AU 5 145411597 145411597 single base substitution G A intron_variant MELA-AU 5 145411606 145411606 single base substitution T A intron_variant MELA-AU 5 145411643 145411643 single base substitution C T intron_variant MELA-AU 5 145411722 145411722 single base substitution C T intron_variant MELA-AU 5 145411873 145411873 single base substitution G A intron_variant MELA-AU 5 145411903 145411903 single base substitution C T intron_variant MELA-AU 5 145411941 145411941 single base substitution G A intron_variant MELA-AU 5 145411961 145411961 single base substitution G A intron_variant MELA-AU 5 145411977 145411977 single base substitution C T intron_variant MELA-AU 5 145412002 145412002 single base substitution G A intron_variant MELA-AU 5 145412071 145412071 single base substitution C T intron_variant MELA-AU 5 145412127 145412127 single base substitution C T intron_variant MELA-AU 5 145412196 145412196 single base substitution G A intron_variant MELA-AU 5 145412265 145412265 single base substitution C T intron_variant MELA-AU 5 145412331 145412331 single base substitution G A intron_variant MELA-AU 5 145412373 145412373 single base substitution G A intron_variant MELA-AU 5 145412609 145412609 single base substitution C T intron_variant MELA-AU 5 145412696 145412696 single base substitution A G intron_variant MELA-AU 5 145413259 145413259 single base substitution C T intron_variant MELA-AU 5 145413310 145413310 single base substitution G A intron_variant MELA-AU 5 145413452 145413452 single base substitution C T intron_variant MELA-AU 5 145413471 145413471 single base substitution G A intron_variant MELA-AU 5 145413546 145413546 single base substitution G A intron_variant MELA-AU 5 145413695 145413695 single base substitution C T intron_variant MELA-AU 5 145413938 145413938 single base substitution G A intron_variant MELA-AU 5 145413955 145413955 single base substitution G A intron_variant MELA-AU 5 145414230 145414230 single base substitution G A intron_variant MELA-AU 5 145414278 145414278 single base substitution G A intron_variant MELA-AU 5 145414430 145414430 single base substitution G A intron_variant MELA-AU 5 145414456 145414456 single base substitution G A intron_variant MELA-AU 5 145414494 145414494 single base substitution C T intron_variant MELA-AU 5 145414668 145414668 single base substitution C T intron_variant MELA-AU 5 145414709 145414709 single base substitution G A intron_variant MELA-AU 5 145414711 145414711 single base substitution G A intron_variant MELA-AU 5 145414724 145414724 single base substitution G A intron_variant MELA-AU 5 145414747 145414747 single base substitution A G intron_variant MELA-AU 5 145414890 145414890 single base substitution C T intron_variant MELA-AU 5 145415113 145415113 single base substitution G A intron_variant MELA-AU 5 145415213 145415213 single base substitution C T intron_variant MELA-AU 5 145415381 145415381 single base substitution G A intron_variant MELA-AU 5 145415546 145415546 single base substitution G A intron_variant MELA-AU 5 145415547 145415547 single base substitution G A intron_variant MELA-AU 5 145415807 145415807 single base substitution G A intron_variant MELA-AU 5 145415875 145415875 single base substitution G A intron_variant MELA-AU 5 145415986 145415986 single base substitution G A intron_variant MELA-AU 5 145416017 145416017 single base substitution G A intron_variant MELA-AU 5 145416055 145416055 single base substitution C T intron_variant MELA-AU 5 145416085 145416085 single base substitution C T intron_variant MELA-AU 5 145416141 145416141 single base substitution C T intron_variant MELA-AU 5 145416166 145416166 single base substitution G A intron_variant MELA-AU 5 145416245 145416245 single base substitution G A intron_variant MELA-AU 5 145416387 145416388 multiple base substitution (>=2bp and <=200bp) GC AT intron_variant MELA-AU 5 145416618 145416618 single base substitution T C intron_variant MELA-AU 5 145416754 145416754 single base substitution A G intron_variant MELA-AU 5 145416810 145416810 single base substitution G A intron_variant MELA-AU 5 145416903 145416903 single base substitution C T intron_variant MELA-AU 5 145417018 145417019 multiple base substitution (>=2bp and <=200bp) GG AA intron_variant MELA-AU 5 145417107 145417107 single base substitution C T intron_variant MELA-AU 5 145417379 145417379 single base substitution C T intron_variant MELA-AU 5 145417444 145417444 single base substitution G A intron_variant MELA-AU 5 145417564 145417564 single base substitution C T intron_variant MELA-AU 5 145417726 145417726 single base substitution G A intron_variant MELA-AU 5 145417726 145417726 single base substitution G A upstream_gene_variant MELA-AU 5 145417759 145417759 single base substitution G A intron_variant MELA-AU 5 145417759 145417759 single base substitution G A upstream_gene_variant MELA-AU 5 145417817 145417817 single base substitution C T intron_variant MELA-AU 5 145417817 145417817 single base substitution C T upstream_gene_variant MELA-AU 5 145418018 145418018 single base substitution G A intron_variant MELA-AU 5 145418018 145418018 single base substitution G A upstream_gene_variant MELA-AU 5 145418338 145418338 single base substitution C T intron_variant MELA-AU 5 145418338 145418338 single base substitution C T upstream_gene_variant MELA-AU 5 145418532 145418532 single base substitution C T intron_variant MELA-AU 5 145418532 145418532 single base substitution C T upstream_gene_variant MELA-AU 5 145418689 145418690 multiple base substitution (>=2bp and <=200bp) CC TT intron_variant MELA-AU 5 145418689 145418690 multiple base substitution (>=2bp and <=200bp) CC TT upstream_gene_variant MELA-AU 5 145418714 145418714 single base substitution G A intron_variant MELA-AU 5 145418714 145418714 single base substitution G A upstream_gene_variant MELA-AU 5 145418796 145418796 single base substitution G A intron_variant MELA-AU 5 145418796 145418796 single base substitution G A upstream_gene_variant MELA-AU 5 145418865 145418865 single base substitution G A intron_variant MELA-AU 5 145418865 145418865 single base substitution G A upstream_gene_variant MELA-AU 5 145419021 145419021 single base substitution C T intron_variant MELA-AU 5 145419021 145419021 single base substitution C T upstream_gene_variant MELA-AU 5 145419214 145419214 single base substitution G C intron_variant MELA-AU 5 145419214 145419214 single base substitution G C upstream_gene_variant MELA-AU 5 145419262 145419262 single base substitution C T intron_variant MELA-AU 5 145419262 145419262 single base substitution C T upstream_gene_variant MELA-AU 5 145419381 145419381 single base substitution C T intron_variant MELA-AU 5 145419381 145419381 single base substitution C T upstream_gene_variant MELA-AU 5 145419654 145419654 single base substitution G A intron_variant MELA-AU 5 145419654 145419654 single base substitution G A upstream_gene_variant MELA-AU 5 145419702 145419702 single base substitution G A intron_variant MELA-AU 5 145419702 145419702 single base substitution G A upstream_gene_variant MELA-AU 5 145419978 145419978 single base substitution T A intron_variant MELA-AU 5 145419978 145419978 single base substitution T A upstream_gene_variant MELA-AU 5 145419987 145419987 single base substitution G A intron_variant MELA-AU 5 145419987 145419987 single base substitution G A upstream_gene_variant MELA-AU 5 145420574 145420574 single base substitution C T intron_variant MELA-AU 5 145420574 145420574 single base substitution C T upstream_gene_variant MELA-AU 5 145420617 145420617 single base substitution C T intron_variant MELA-AU 5 145420617 145420617 single base substitution C T upstream_gene_variant MELA-AU 5 145420673 145420673 single base substitution G T intron_variant MELA-AU 5 145420673 145420673 single base substitution G T upstream_gene_variant MELA-AU 5 145420696 145420696 single base substitution G A intron_variant MELA-AU 5 145420696 145420696 single base substitution G A upstream_gene_variant MELA-AU 5 145420705 145420705 single base substitution G A intron_variant MELA-AU 5 145420705 145420705 single base substitution G A upstream_gene_variant MELA-AU 5 145420799 145420799 single base substitution G A intron_variant MELA-AU 5 145420799 145420799 single base substitution G A upstream_gene_variant MELA-AU 5 145421106 145421106 single base substitution G A intron_variant MELA-AU 5 145421106 145421106 single base substitution G A upstream_gene_variant MELA-AU 5 145421273 145421273 single base substitution A G intron_variant MELA-AU 5 145421273 145421273 single base substitution A G upstream_gene_variant MELA-AU 5 145421288 145421288 single base substitution T C intron_variant MELA-AU 5 145421288 145421288 single base substitution T C upstream_gene_variant MELA-AU 5 145421343 145421343 single base substitution A T intron_variant MELA-AU 5 145421343 145421343 single base substitution A T upstream_gene_variant MELA-AU 5 145421502 145421502 single base substitution A T intron_variant MELA-AU 5 145421502 145421502 single base substitution A T upstream_gene_variant MELA-AU 5 145421636 145421636 single base substitution G T intron_variant MELA-AU 5 145421636 145421636 single base substitution G T upstream_gene_variant MELA-AU 5 145421650 145421650 single base substitution C T intron_variant MELA-AU 5 145421650 145421650 single base substitution C T upstream_gene_variant MELA-AU 5 145421904 145421904 single base substitution C T intron_variant MELA-AU 5 145421904 145421904 single base substitution C T upstream_gene_variant MELA-AU 5 145422059 145422059 single base substitution G A intron_variant MELA-AU 5 145422059 145422059 single base substitution G A upstream_gene_variant MELA-AU 5 145422381 145422381 single base substitution G A intron_variant MELA-AU 5 145422381 145422381 single base substitution G A upstream_gene_variant MELA-AU 5 145422528 145422528 single base substitution C T intron_variant MELA-AU 5 145422528 145422528 single base substitution C T upstream_gene_variant MELA-AU 5 145422669 145422669 single base substitution C T exon_variant MELA-AU 5 145422669 145422669 single base substitution C T intron_variant MELA-AU 5 145422742 145422742 single base substitution C T intron_variant MELA-AU 5 145422778 145422778 single base substitution C T intron_variant MELA-AU 5 145422811 145422811 single base substitution C T intron_variant MELA-AU 5 145422880 145422880 single base substitution C T intron_variant MELA-AU 5 145422959 145422959 single base substitution G A intron_variant MELA-AU 5 145423143 145423143 single base substitution C A intron_variant MELA-AU 5 145423202 145423202 single base substitution C T intron_variant MELA-AU 5 145423435 145423435 single base substitution G A intron_variant MELA-AU 5 145423823 145423823 single base substitution C T intron_variant MELA-AU 5 145423877 145423877 single base substitution C T intron_variant MELA-AU 5 145424054 145424054 single base substitution C T intron_variant MELA-AU 5 145424149 145424149 single base substitution C T intron_variant MELA-AU 5 145424210 145424210 single base substitution C A intron_variant MELA-AU 5 145424245 145424245 single base substitution C T intron_variant MELA-AU 5 145424363 145424363 single base substitution C T intron_variant MELA-AU 5 145424384 145424384 single base substitution G A intron_variant MELA-AU 5 145424524 145424524 single base substitution G A intron_variant MELA-AU 5 145424526 145424526 single base substitution C T intron_variant MELA-AU 5 145424581 145424581 single base substitution G A intron_variant MELA-AU 5 145424849 145424849 single base substitution G A intron_variant MELA-AU 5 145424849 145424849 single base substitution G A upstream_gene_variant MELA-AU 5 145424863 145424863 single base substitution G A intron_variant MELA-AU 5 145424863 145424863 single base substitution G A upstream_gene_variant MELA-AU 5 145424872 145424872 single base substitution C T intron_variant MELA-AU 5 145424872 145424872 single base substitution C T upstream_gene_variant MELA-AU 5 145424899 145424899 single base substitution C T intron_variant MELA-AU 5 145424899 145424899 single base substitution C T upstream_gene_variant MELA-AU 5 145425004 145425004 single base substitution C T intron_variant MELA-AU 5 145425004 145425004 single base substitution C T upstream_gene_variant MELA-AU 5 145425112 145425112 single base substitution G A intron_variant MELA-AU 5 145425112 145425112 single base substitution G A upstream_gene_variant MELA-AU 5 145425194 145425194 single base substitution C T intron_variant MELA-AU 5 145425194 145425194 single base substitution C T upstream_gene_variant MELA-AU 5 145425251 145425251 single base substitution C T intron_variant MELA-AU 5 145425251 145425251 single base substitution C T upstream_gene_variant MELA-AU 5 145425385 145425385 single base substitution C T intron_variant MELA-AU 5 145425385 145425385 single base substitution C T upstream_gene_variant MELA-AU 5 145425448 145425448 single base substitution C T intron_variant MELA-AU 5 145425448 145425448 single base substitution C T upstream_gene_variant MELA-AU 5 145425524 145425524 single base substitution C T intron_variant MELA-AU 5 145425524 145425524 single base substitution C T upstream_gene_variant MELA-AU 5 145425618 145425618 single base substitution G A intron_variant MELA-AU 5 145425618 145425618 single base substitution G A upstream_gene_variant MELA-AU 5 145425754 145425754 single base substitution C A intron_variant MELA-AU 5 145425754 145425754 single base substitution C A upstream_gene_variant MELA-AU 5 145425770 145425770 single base substitution G A intron_variant MELA-AU 5 145425770 145425770 single base substitution G A upstream_gene_variant MELA-AU 5 145426016 145426016 single base substitution C T intron_variant MELA-AU 5 145426016 145426016 single base substitution C T upstream_gene_variant MELA-AU 5 145426124 145426124 single base substitution C T intron_variant MELA-AU 5 145426124 145426124 single base substitution C T upstream_gene_variant MELA-AU 5 145426128 145426128 single base substitution C T intron_variant MELA-AU 5 145426128 145426128 single base substitution C T upstream_gene_variant MELA-AU 5 145426136 145426136 single base substitution C T intron_variant MELA-AU 5 145426136 145426136 single base substitution C T upstream_gene_variant MELA-AU 5 145426185 145426185 single base substitution G A intron_variant MELA-AU 5 145426185 145426185 single base substitution G A upstream_gene_variant MELA-AU 5 145426206 145426206 single base substitution C T intron_variant MELA-AU 5 145426206 145426206 single base substitution C T upstream_gene_variant MELA-AU 5 145426303 145426303 single base substitution C T intron_variant MELA-AU 5 145426303 145426303 single base substitution C T upstream_gene_variant MELA-AU 5 145426430 145426430 single base substitution G A intron_variant MELA-AU 5 145426430 145426430 single base substitution G A upstream_gene_variant MELA-AU 5 145426436 145426436 single base substitution C T intron_variant MELA-AU 5 145426436 145426436 single base substitution C T upstream_gene_variant MELA-AU 5 145426770 145426770 single base substitution G A intron_variant MELA-AU 5 145426770 145426770 single base substitution G A upstream_gene_variant MELA-AU 5 145427012 145427012 single base substitution G C intron_variant MELA-AU 5 145427012 145427012 single base substitution G C upstream_gene_variant MELA-AU 5 145427372 145427372 single base substitution A C exon_variant MELA-AU 5 145427372 145427372 single base substitution A C missense_variant H366P 1097A>C MELA-AU 5 145427372 145427372 single base substitution A C upstream_gene_variant MELA-AU 5 145427393 145427393 single base substitution T G exon_variant MELA-AU 5 145427393 145427393 single base substitution T G missense_variant L373R 1118T>G MELA-AU 5 145427393 145427393 single base substitution T G upstream_gene_variant MELA-AU 5 145427402 145427402 single base substitution C A exon_variant MELA-AU 5 145427402 145427402 single base substitution C A missense_variant S376Y 1127C>A MELA-AU 5 145427402 145427402 single base substitution C A upstream_gene_variant MELA-AU 5 145427453 145427453 single base substitution C T intron_variant MELA-AU 5 145427453 145427453 single base substitution C T upstream_gene_variant MELA-AU 5 145427760 145427760 single base substitution C T intron_variant MELA-AU 5 145427760 145427760 single base substitution C T upstream_gene_variant MELA-AU 5 145428064 145428064 single base substitution G A intron_variant MELA-AU 5 145428064 145428064 single base substitution G A upstream_gene_variant MELA-AU 5 145428695 145428696 multiple base substitution (>=2bp and <=200bp) GG AA exon_variant MELA-AU 5 145428695 145428696 multiple base substitution (>=2bp and <=200bp) GG AA missense_variant KG403KR MELA-AU 5 145428695 145428696 multiple base substitution (>=2bp and <=200bp) GG AA upstream_gene_variant MELA-AU 5 145428899 145428899 single base substitution C T downstream_gene_variant MELA-AU 5 145428899 145428899 single base substitution C T intron_variant MELA-AU 5 145428899 145428899 single base substitution C T upstream_gene_variant MELA-AU 5 145429149 145429149 single base substitution G A downstream_gene_variant MELA-AU 5 145429149 145429149 single base substitution G A intron_variant MELA-AU 5 145429149 145429149 single base substitution G A upstream_gene_variant MELA-AU 5 145429182 145429182 single base substitution C T downstream_gene_variant MELA-AU 5 145429182 145429182 single base substitution C T intron_variant MELA-AU 5 145429182 145429182 single base substitution C T upstream_gene_variant MELA-AU 5 145429362 145429362 single base substitution C T downstream_gene_variant MELA-AU 5 145429362 145429362 single base substitution C T intron_variant MELA-AU 5 145429362 145429362 single base substitution C T upstream_gene_variant MELA-AU 5 145429365 145429365 single base substitution G A downstream_gene_variant MELA-AU 5 145429365 145429365 single base substitution G A intron_variant MELA-AU 5 145429365 145429365 single base substitution G A upstream_gene_variant MELA-AU 5 145429491 145429491 single base substitution G A downstream_gene_variant MELA-AU 5 145429491 145429491 single base substitution G A intron_variant MELA-AU 5 145429491 145429491 single base substitution G A upstream_gene_variant MELA-AU 5 145429829 145429829 single base substitution G A downstream_gene_variant MELA-AU 5 145429829 145429829 single base substitution G A intron_variant MELA-AU 5 145430092 145430092 single base substitution G A downstream_gene_variant MELA-AU 5 145430092 145430092 single base substitution G A intron_variant MELA-AU 5 145430108 145430108 single base substitution T C downstream_gene_variant MELA-AU 5 145430108 145430108 single base substitution T C intron_variant MELA-AU 5 145430145 145430145 single base substitution G A downstream_gene_variant MELA-AU 5 145430145 145430145 single base substitution G A intron_variant MELA-AU 5 145430157 145430157 single base substitution C T downstream_gene_variant MELA-AU 5 145430157 145430157 single base substitution C T intron_variant MELA-AU 5 145430365 145430365 single base substitution G A downstream_gene_variant MELA-AU 5 145430365 145430365 single base substitution G A intron_variant MELA-AU 5 145430406 145430406 single base substitution G A downstream_gene_variant MELA-AU 5 145430406 145430406 single base substitution G A intron_variant MELA-AU 5 145430406 145430406 single base substitution G A upstream_gene_variant MELA-AU 5 145430419 145430419 single base substitution G C downstream_gene_variant MELA-AU 5 145430419 145430419 single base substitution G C intron_variant MELA-AU 5 145430419 145430419 single base substitution G C upstream_gene_variant MELA-AU 5 145430582 145430582 single base substitution G A downstream_gene_variant MELA-AU 5 145430582 145430582 single base substitution G A intron_variant MELA-AU 5 145430582 145430582 single base substitution G A upstream_gene_variant MELA-AU 5 145430680 145430680 single base substitution C T downstream_gene_variant MELA-AU 5 145430680 145430680 single base substitution C T intron_variant MELA-AU 5 145430680 145430680 single base substitution C T upstream_gene_variant MELA-AU 5 145430705 145430705 single base substitution G A downstream_gene_variant MELA-AU 5 145430705 145430705 single base substitution G A intron_variant MELA-AU 5 145430705 145430705 single base substitution G A upstream_gene_variant MELA-AU 5 145430783 145430783 single base substitution G A downstream_gene_variant MELA-AU 5 145430783 145430783 single base substitution G A intron_variant MELA-AU 5 145430783 145430783 single base substitution G A upstream_gene_variant MELA-AU 5 145430805 145430805 deletion of <=200bp G - downstream_gene_variant MELA-AU 5 145430805 145430805 deletion of <=200bp G - intron_variant MELA-AU 5 145430805 145430805 deletion of <=200bp G - upstream_gene_variant MELA-AU 5 145431158 145431158 single base substitution C T downstream_gene_variant MELA-AU 5 145431158 145431158 single base substitution C T intron_variant MELA-AU 5 145431158 145431158 single base substitution C T upstream_gene_variant MELA-AU 5 145431208 145431208 single base substitution C T downstream_gene_variant MELA-AU 5 145431208 145431208 single base substitution C T intron_variant MELA-AU 5 145431208 145431208 single base substitution C T upstream_gene_variant MELA-AU 5 145431238 145431239 multiple base substitution (>=2bp and <=200bp) GG AA downstream_gene_variant MELA-AU 5 145431238 145431239 multiple base substitution (>=2bp and <=200bp) GG AA intron_variant MELA-AU 5 145431238 145431239 multiple base substitution (>=2bp and <=200bp) GG AA upstream_gene_variant MELA-AU 5 145431405 145431405 single base substitution T G downstream_gene_variant MELA-AU 5 145431405 145431405 single base substitution T G intron_variant MELA-AU 5 145431405 145431405 single base substitution T G upstream_gene_variant MELA-AU 5 145431494 145431494 single base substitution G A downstream_gene_variant MELA-AU 5 145431494 145431494 single base substitution G A intron_variant MELA-AU 5 145431494 145431494 single base substitution G A upstream_gene_variant MELA-AU 5 145431856 145431856 single base substitution C T downstream_gene_variant MELA-AU 5 145431856 145431856 single base substitution C T intron_variant MELA-AU 5 145431856 145431856 single base substitution C T upstream_gene_variant MELA-AU 5 145431914 145431914 single base substitution A G downstream_gene_variant MELA-AU 5 145431914 145431914 single base substitution A G intron_variant MELA-AU 5 145431914 145431914 single base substitution A G upstream_gene_variant MELA-AU 5 145431949 145431949 single base substitution C T downstream_gene_variant MELA-AU 5 145431949 145431949 single base substitution C T intron_variant MELA-AU 5 145431949 145431949 single base substitution C T upstream_gene_variant MELA-AU 5 145432102 145432102 single base substitution G A downstream_gene_variant MELA-AU 5 145432102 145432102 single base substitution G A intron_variant MELA-AU 5 145432102 145432102 single base substitution G A upstream_gene_variant MELA-AU 5 145432322 145432322 single base substitution C T downstream_gene_variant MELA-AU 5 145432322 145432322 single base substitution C T intron_variant MELA-AU 5 145432322 145432322 single base substitution C T upstream_gene_variant MELA-AU 5 145432345 145432345 single base substitution C T downstream_gene_variant MELA-AU 5 145432345 145432345 single base substitution C T intron_variant MELA-AU 5 145432345 145432345 single base substitution C T upstream_gene_variant MELA-AU 5 145432346 145432346 single base substitution C T downstream_gene_variant MELA-AU 5 145432346 145432346 single base substitution C T intron_variant MELA-AU 5 145432346 145432346 single base substitution C T upstream_gene_variant MELA-AU 5 145432374 145432374 single base substitution C T downstream_gene_variant MELA-AU 5 145432374 145432374 single base substitution C T intron_variant MELA-AU 5 145432374 145432374 single base substitution C T upstream_gene_variant MELA-AU 5 145432389 145432389 single base substitution C T downstream_gene_variant MELA-AU 5 145432389 145432389 single base substitution C T intron_variant MELA-AU 5 145432389 145432389 single base substitution C T upstream_gene_variant MELA-AU 5 145432578 145432578 single base substitution G A downstream_gene_variant MELA-AU 5 145432578 145432578 single base substitution G A intron_variant MELA-AU 5 145432578 145432578 single base substitution G A upstream_gene_variant MELA-AU 5 145432587 145432587 single base substitution C T downstream_gene_variant MELA-AU 5 145432587 145432587 single base substitution C T intron_variant MELA-AU 5 145432587 145432587 single base substitution C T upstream_gene_variant MELA-AU 5 145432952 145432952 single base substitution C T downstream_gene_variant MELA-AU 5 145432952 145432952 single base substitution C T intron_variant MELA-AU 5 145432952 145432952 single base substitution C T upstream_gene_variant MELA-AU 5 145433091 145433091 single base substitution C T downstream_gene_variant MELA-AU 5 145433091 145433091 single base substitution C T intron_variant MELA-AU 5 145433091 145433091 single base substitution C T upstream_gene_variant MELA-AU 5 145433241 145433241 single base substitution C T downstream_gene_variant MELA-AU 5 145433241 145433241 single base substitution C T intron_variant MELA-AU 5 145433241 145433241 single base substitution C T upstream_gene_variant MELA-AU 5 145433263 145433263 single base substitution C T downstream_gene_variant MELA-AU 5 145433263 145433263 single base substitution C T intron_variant MELA-AU 5 145433263 145433263 single base substitution C T upstream_gene_variant MELA-AU 5 145433318 145433318 single base substitution C T downstream_gene_variant MELA-AU 5 145433318 145433318 single base substitution C T intron_variant MELA-AU 5 145433318 145433318 single base substitution C T upstream_gene_variant MELA-AU 5 145433439 145433439 single base substitution T A downstream_gene_variant MELA-AU 5 145433439 145433439 single base substitution T A intron_variant MELA-AU 5 145433439 145433439 single base substitution T A upstream_gene_variant MELA-AU 5 145433553 145433553 single base substitution G A downstream_gene_variant MELA-AU 5 145433553 145433553 single base substitution G A intron_variant MELA-AU 5 145433553 145433553 single base substitution G A upstream_gene_variant MELA-AU 5 145433944 145433944 single base substitution G A intron_variant MELA-AU 5 145433944 145433944 single base substitution G A upstream_gene_variant MELA-AU 5 145434140 145434140 single base substitution C T intron_variant MELA-AU 5 145434140 145434140 single base substitution C T upstream_gene_variant MELA-AU 5 145434160 145434160 single base substitution G A intron_variant MELA-AU 5 145434160 145434160 single base substitution G A upstream_gene_variant MELA-AU 5 145434273 145434273 single base substitution C T intron_variant MELA-AU 5 145434273 145434273 single base substitution C T upstream_gene_variant MELA-AU 5 145434446 145434446 single base substitution C T intron_variant MELA-AU 5 145434446 145434446 single base substitution C T upstream_gene_variant MELA-AU 5 145434451 145434451 single base substitution G A intron_variant MELA-AU 5 145434451 145434451 single base substitution G A upstream_gene_variant MELA-AU 5 145434792 145434792 single base substitution G A intron_variant MELA-AU 5 145434792 145434792 single base substitution G A upstream_gene_variant MELA-AU 5 145435056 145435056 deletion of <=200bp A - intron_variant MELA-AU 5 145435056 145435056 deletion of <=200bp A - upstream_gene_variant MELA-AU 5 145435184 145435184 single base substitution G A intron_variant MELA-AU 5 145435184 145435184 single base substitution G A upstream_gene_variant MELA-AU 5 145435201 145435201 single base substitution G A intron_variant MELA-AU 5 145435201 145435201 single base substitution G A upstream_gene_variant MELA-AU 5 145435328 145435328 single base substitution C T intron_variant MELA-AU 5 145435328 145435328 single base substitution C T upstream_gene_variant MELA-AU 5 145435329 145435329 single base substitution C T intron_variant MELA-AU 5 145435329 145435329 single base substitution C T upstream_gene_variant MELA-AU 5 145435395 145435395 single base substitution C T exon_variant MELA-AU 5 145435395 145435395 single base substitution C T intron_variant MELA-AU 5 145435404 145435404 single base substitution G A exon_variant MELA-AU 5 145435404 145435404 single base substitution G A intron_variant MELA-AU 5 145435568 145435568 single base substitution C T exon_variant MELA-AU 5 145435568 145435568 single base substitution C T synonymous_variant S449S 1347C>T MELA-AU 5 145435575 145435575 single base substitution C T exon_variant MELA-AU 5 145435575 145435575 single base substitution C T missense_variant P452S 1354C>T MELA-AU 5 145435604 145435604 single base substitution C T exon_variant MELA-AU 5 145435604 145435604 single base substitution C T synonymous_variant S461S 1383C>T MELA-AU 5 145435647 145435647 single base substitution C T exon_variant MELA-AU 5 145435647 145435647 single base substitution C T missense_variant P476S 1426C>T MELA-AU 5 145435651 145435651 single base substitution G A exon_variant MELA-AU 5 145435651 145435651 single base substitution G A missense_variant R477Q 1430G>A MELA-AU 5 145435663 145435663 single base substitution C T exon_variant MELA-AU 5 145435663 145435663 single base substitution C T missense_variant P481L 1442C>T MELA-AU 5 145435702 145435702 single base substitution C T exon_variant MELA-AU 5 145435702 145435702 single base substitution C T missense_variant P494L 1481C>T MELA-AU 5 145435718 145435718 single base substitution C T exon_variant MELA-AU 5 145435718 145435718 single base substitution C T synonymous_variant A499A 1497C>T MELA-AU 5 145435741 145435741 single base substitution G A exon_variant MELA-AU 5 145435741 145435741 single base substitution G A missense_variant G507E 1520G>A MELA-AU 5 145435749 145435749 single base substitution C T exon_variant MELA-AU 5 145435749 145435749 single base substitution C T missense_variant R510W 1528C>T MELA-AU 5 145435751 145435751 single base substitution G A exon_variant MELA-AU 5 145435751 145435751 single base substitution G A synonymous_variant R510R 1530G>A MELA-AU 5 145435753 145435753 single base substitution A T exon_variant MELA-AU 5 145435753 145435753 single base substitution A T missense_variant K511I 1532A>T MELA-AU 5 145436032 145436032 single base substitution G A intron_variant MELA-AU 5 145436077 145436077 single base substitution G A intron_variant MELA-AU 5 145436119 145436119 single base substitution G A intron_variant MELA-AU 5 145436119 145436120 multiple base substitution (>=2bp and <=200bp) GG AA intron_variant MELA-AU 5 145436161 145436161 single base substitution G A intron_variant MELA-AU 5 145436186 145436186 single base substitution G A intron_variant MELA-AU 5 145436201 145436201 single base substitution G A intron_variant MELA-AU 5 145436286 145436286 single base substitution G A intron_variant MELA-AU 5 145436307 145436307 single base substitution C T intron_variant MELA-AU 5 145436317 145436317 single base substitution C T intron_variant MELA-AU 5 145436360 145436360 single base substitution G A intron_variant MELA-AU 5 145436665 145436665 single base substitution G A intron_variant MELA-AU 5 145436945 145436945 single base substitution G A intron_variant MELA-AU 5 145437099 145437099 single base substitution A T intron_variant MELA-AU 5 145437287 145437287 single base substitution G A intron_variant MELA-AU 5 145437295 145437295 single base substitution G A intron_variant MELA-AU 5 145437428 145437428 single base substitution C T intron_variant MELA-AU 5 145437595 145437595 single base substitution C T intron_variant MELA-AU 5 145437799 145437799 single base substitution C T intron_variant MELA-AU 5 145437857 145437857 single base substitution C T intron_variant MELA-AU 5 145438234 145438234 single base substitution C T intron_variant MELA-AU 5 145438345 145438345 single base substitution G A intron_variant MELA-AU 5 145438513 145438513 single base substitution G A intron_variant MELA-AU 5 145438651 145438651 single base substitution C T intron_variant MELA-AU 5 145439045 145439045 single base substitution C T intron_variant MELA-AU 5 145439206 145439206 single base substitution C T intron_variant MELA-AU 5 145439379 145439379 single base substitution C T intron_variant MELA-AU 5 145439514 145439514 single base substitution G A exon_variant MELA-AU 5 145439514 145439514 single base substitution G A intron_variant MELA-AU 5 145439514 145439514 single base substitution G A synonymous_variant R547R 1641G>A MELA-AU 5 145439828 145439828 single base substitution C T downstream_gene_variant MELA-AU 5 145439828 145439828 single base substitution C T intron_variant MELA-AU 5 145439879 145439879 single base substitution G A downstream_gene_variant MELA-AU 5 145439879 145439879 single base substitution G A intron_variant MELA-AU 5 145440217 145440217 single base substitution G A downstream_gene_variant MELA-AU 5 145440217 145440217 single base substitution G A intron_variant MELA-AU 5 145440671 145440671 single base substitution C T downstream_gene_variant MELA-AU 5 145440671 145440671 single base substitution C T intron_variant MELA-AU 5 145440785 145440785 single base substitution G A downstream_gene_variant MELA-AU 5 145440785 145440785 single base substitution G A intron_variant MELA-AU 5 145441004 145441004 single base substitution C T downstream_gene_variant MELA-AU 5 145441004 145441004 single base substitution C T intron_variant MELA-AU 5 145441011 145441011 single base substitution C T downstream_gene_variant MELA-AU 5 145441011 145441011 single base substitution C T intron_variant MELA-AU 5 145441049 145441049 single base substitution C T downstream_gene_variant MELA-AU 5 145441049 145441049 single base substitution C T intron_variant MELA-AU 5 145441262 145441262 single base substitution G A downstream_gene_variant MELA-AU 5 145441262 145441262 single base substitution G A intron_variant MELA-AU 5 145441277 145441277 single base substitution G A downstream_gene_variant MELA-AU 5 145441277 145441277 single base substitution G A intron_variant MELA-AU 5 145441278 145441278 single base substitution G A downstream_gene_variant MELA-AU 5 145441278 145441278 single base substitution G A intron_variant MELA-AU 5 145441379 145441379 single base substitution G A downstream_gene_variant MELA-AU 5 145441379 145441379 single base substitution G A intron_variant MELA-AU 5 145441386 145441386 single base substitution G A downstream_gene_variant MELA-AU 5 145441386 145441386 single base substitution G A intron_variant MELA-AU 5 145441435 145441435 single base substitution C T downstream_gene_variant MELA-AU 5 145441435 145441435 single base substitution C T intron_variant MELA-AU 5 145441530 145441530 single base substitution G A downstream_gene_variant MELA-AU 5 145441530 145441530 single base substitution G A intron_variant MELA-AU 5 145441595 145441595 single base substitution G A downstream_gene_variant MELA-AU 5 145441595 145441595 single base substitution G A intron_variant MELA-AU 5 145441629 145441629 single base substitution G A downstream_gene_variant MELA-AU 5 145441629 145441629 single base substitution G A intron_variant MELA-AU 5 145441773 145441773 single base substitution G A downstream_gene_variant MELA-AU 5 145441773 145441773 single base substitution G A intron_variant MELA-AU 5 145442053 145442053 single base substitution C T downstream_gene_variant MELA-AU 5 145442053 145442053 single base substitution C T exon_variant MELA-AU 5 145442053 145442053 single base substitution C T missense_variant P660L 1979C>T MELA-AU 5 145442062 145442062 single base substitution G A downstream_gene_variant MELA-AU 5 145442062 145442062 single base substitution G A exon_variant MELA-AU 5 145442062 145442062 single base substitution G A missense_variant G663E 1988G>A MELA-AU 5 145442097 145442097 single base substitution C T downstream_gene_variant MELA-AU 5 145442097 145442097 single base substitution C T exon_variant MELA-AU 5 145442097 145442097 single base substitution C T stop_gained Q675* 2023C>T MELA-AU 5 145442219 145442219 single base substitution G A downstream_gene_variant MELA-AU 5 145442219 145442219 single base substitution G A exon_variant MELA-AU 5 145442219 145442219 single base substitution G A synonymous_variant L715L 2145G>A MELA-AU 5 145442288 145442288 single base substitution C T 3_prime_UTR_variant MELA-AU 5 145442288 145442288 single base substitution C T downstream_gene_variant MELA-AU 5 145442288 145442288 single base substitution C T exon_variant MELA-AU 5 145442396 145442397 multiple base substitution (>=2bp and <=200bp) GA AT 3_prime_UTR_variant MELA-AU 5 145442396 145442397 multiple base substitution (>=2bp and <=200bp) GA AT downstream_gene_variant MELA-AU 5 145442396 145442397 multiple base substitution (>=2bp and <=200bp) GA AT intron_variant MELA-AU 5 145442421 145442421 single base substitution C T 3_prime_UTR_variant MELA-AU 5 145442421 145442421 single base substitution C T downstream_gene_variant MELA-AU 5 145442421 145442421 single base substitution C T intron_variant MELA-AU 5 145442664 145442664 single base substitution C T 3_prime_UTR_variant MELA-AU 5 145442664 145442664 single base substitution C T downstream_gene_variant MELA-AU 5 145442664 145442664 single base substitution C T intron_variant MELA-AU 5 145442787 145442787 single base substitution G A 3_prime_UTR_variant MELA-AU 5 145442787 145442787 single base substitution G A downstream_gene_variant MELA-AU 5 145442787 145442787 single base substitution G A intron_variant MELA-AU 5 145442834 145442834 single base substitution C T 3_prime_UTR_variant MELA-AU 5 145442834 145442834 single base substitution C T downstream_gene_variant MELA-AU 5 145442834 145442834 single base substitution C T intron_variant MELA-AU 5 145442917 145442917 single base substitution G A downstream_gene_variant MELA-AU 5 145442917 145442917 single base substitution G A intron_variant MELA-AU 5 145442962 145442962 single base substitution C T downstream_gene_variant MELA-AU 5 145442962 145442962 single base substitution C T intron_variant MELA-AU 5 145443033 145443033 single base substitution C T downstream_gene_variant MELA-AU 5 145443033 145443033 single base substitution C T intron_variant MELA-AU 5 145443124 145443124 single base substitution C T downstream_gene_variant MELA-AU 5 145443124 145443124 single base substitution C T intron_variant MELA-AU 5 145443140 145443140 single base substitution G A downstream_gene_variant MELA-AU 5 145443140 145443140 single base substitution G A intron_variant MELA-AU 5 145443338 145443338 single base substitution G A downstream_gene_variant MELA-AU 5 145443338 145443338 single base substitution G A intron_variant MELA-AU 5 145443410 145443410 single base substitution G A downstream_gene_variant MELA-AU 5 145443410 145443410 single base substitution G A intron_variant MELA-AU 5 145443502 145443502 single base substitution G A downstream_gene_variant MELA-AU 5 145443502 145443502 single base substitution G A intron_variant MELA-AU 5 145443576 145443576 single base substitution C T downstream_gene_variant MELA-AU 5 145443576 145443576 single base substitution C T intron_variant MELA-AU 5 145443602 145443602 single base substitution G A downstream_gene_variant MELA-AU 5 145443602 145443602 single base substitution G A intron_variant MELA-AU 5 145443715 145443715 single base substitution G A downstream_gene_variant MELA-AU 5 145443715 145443715 single base substitution G A intron_variant MELA-AU 5 145443792 145443792 single base substitution G A downstream_gene_variant MELA-AU 5 145443792 145443792 single base substitution G A intron_variant MELA-AU 5 145444139 145444139 single base substitution G A downstream_gene_variant MELA-AU 5 145444139 145444139 single base substitution G A intron_variant MELA-AU 5 145444492 145444492 single base substitution C T downstream_gene_variant MELA-AU 5 145444492 145444492 single base substitution C T intron_variant MELA-AU 5 145444517 145444517 single base substitution G A downstream_gene_variant MELA-AU 5 145444517 145444517 single base substitution G A intron_variant MELA-AU 5 145444779 145444779 single base substitution C T downstream_gene_variant MELA-AU 5 145444779 145444779 single base substitution C T intron_variant MELA-AU 5 145444854 145444854 single base substitution G A downstream_gene_variant MELA-AU 5 145444854 145444854 single base substitution G A intron_variant MELA-AU 5 145445007 145445007 single base substitution C T downstream_gene_variant MELA-AU 5 145445007 145445007 single base substitution C T intron_variant MELA-AU 5 145445119 145445119 single base substitution G A downstream_gene_variant MELA-AU 5 145445119 145445119 single base substitution G A intron_variant MELA-AU 5 145445209 145445209 single base substitution C T downstream_gene_variant MELA-AU 5 145445209 145445209 single base substitution C T intron_variant MELA-AU 5 145445593 145445593 single base substitution C T downstream_gene_variant MELA-AU 5 145445593 145445593 single base substitution C T intron_variant MELA-AU 5 145446027 145446027 single base substitution C T downstream_gene_variant MELA-AU 5 145446027 145446027 single base substitution C T intron_variant MELA-AU 5 145446235 145446235 single base substitution G A downstream_gene_variant MELA-AU 5 145446235 145446235 single base substitution G A intron_variant MELA-AU 5 145446315 145446315 single base substitution T C downstream_gene_variant MELA-AU 5 145446315 145446315 single base substitution T C intron_variant MELA-AU 5 145446502 145446502 single base substitution G A downstream_gene_variant MELA-AU 5 145446502 145446502 single base substitution G A intron_variant MELA-AU 5 145446515 145446515 single base substitution G A downstream_gene_variant MELA-AU 5 145446515 145446515 single base substitution G A intron_variant MELA-AU 5 145446523 145446523 single base substitution G A downstream_gene_variant MELA-AU 5 145446523 145446523 single base substitution G A intron_variant MELA-AU 5 145446586 145446586 single base substitution G A downstream_gene_variant MELA-AU 5 145446586 145446586 single base substitution G A intron_variant MELA-AU 5 145446618 145446618 single base substitution C T downstream_gene_variant MELA-AU 5 145446618 145446618 single base substitution C T intron_variant MELA-AU 5 145446658 145446658 single base substitution C T downstream_gene_variant MELA-AU 5 145446658 145446658 single base substitution C T intron_variant MELA-AU 5 145446799 145446799 single base substitution G A downstream_gene_variant MELA-AU 5 145446799 145446799 single base substitution G A intron_variant MELA-AU 5 145446808 145446808 single base substitution G A downstream_gene_variant MELA-AU 5 145446808 145446808 single base substitution G A intron_variant MELA-AU 5 145446814 145446814 single base substitution C T downstream_gene_variant MELA-AU 5 145446814 145446814 single base substitution C T intron_variant MELA-AU 5 145446863 145446863 single base substitution G A downstream_gene_variant MELA-AU 5 145446863 145446863 single base substitution G A intron_variant MELA-AU 5 145446947 145446947 single base substitution G A downstream_gene_variant MELA-AU 5 145446947 145446947 single base substitution G A intron_variant MELA-AU 5 145446972 145446972 single base substitution C T downstream_gene_variant MELA-AU 5 145446972 145446972 single base substitution C T intron_variant MELA-AU 5 145446981 145446981 single base substitution G A downstream_gene_variant MELA-AU 5 145446981 145446981 single base substitution G A intron_variant MELA-AU 5 145447199 145447199 single base substitution C T downstream_gene_variant MELA-AU 5 145447199 145447199 single base substitution C T intron_variant MELA-AU 5 145447454 145447454 single base substitution C T downstream_gene_variant MELA-AU 5 145447454 145447454 single base substitution C T intron_variant MELA-AU 5 145447577 145447577 single base substitution C T downstream_gene_variant MELA-AU 5 145447577 145447577 single base substitution C T intron_variant MELA-AU 5 145447605 145447605 single base substitution C T downstream_gene_variant MELA-AU 5 145447605 145447605 single base substitution C T intron_variant MELA-AU 5 145447606 145447606 single base substitution C T downstream_gene_variant MELA-AU 5 145447606 145447606 single base substitution C T intron_variant MELA-AU 5 145447649 145447649 single base substitution G A downstream_gene_variant MELA-AU 5 145447649 145447649 single base substitution G A intron_variant MELA-AU 5 145447773 145447773 single base substitution G A downstream_gene_variant MELA-AU 5 145447773 145447773 single base substitution G A intron_variant MELA-AU 5 145447956 145447956 single base substitution G C intron_variant MELA-AU 5 145448024 145448024 single base substitution C T intron_variant MELA-AU 5 145448126 145448127 multiple base substitution (>=2bp and <=200bp) CC TT intron_variant MELA-AU 5 145448245 145448245 single base substitution C T intron_variant MELA-AU 5 145448263 145448263 single base substitution C T intron_variant MELA-AU 5 145448401 145448401 single base substitution C T intron_variant MELA-AU 5 145448567 145448567 single base substitution C T intron_variant MELA-AU 5 145448606 145448606 single base substitution C T intron_variant MELA-AU 5 145448832 145448832 single base substitution G A intron_variant MELA-AU 5 145449096 145449096 single base substitution C T intron_variant MELA-AU 5 145449122 145449122 single base substitution G A intron_variant MELA-AU 5 145449253 145449253 single base substitution C T intron_variant MELA-AU 5 145449296 145449296 single base substitution C T intron_variant MELA-AU 5 145449407 145449407 single base substitution G A intron_variant MELA-AU 5 145449501 145449501 single base substitution C T intron_variant MELA-AU 5 145449693 145449693 single base substitution C T intron_variant MELA-AU 5 145449694 145449694 single base substitution C T intron_variant MELA-AU 5 145449782 145449782 single base substitution T C intron_variant MELA-AU 5 145449860 145449860 single base substitution T C intron_variant MELA-AU 5 145450091 145450091 single base substitution C T intron_variant MELA-AU 5 145450111 145450111 single base substitution G A intron_variant MELA-AU 5 145450157 145450157 single base substitution C A intron_variant MELA-AU 5 145450184 145450184 single base substitution G A intron_variant MELA-AU 5 145450235 145450235 single base substitution C T intron_variant MELA-AU 5 145450264 145450264 single base substitution G A intron_variant MELA-AU 5 145450315 145450315 single base substitution G A intron_variant MELA-AU 5 145450416 145450416 single base substitution G A intron_variant MELA-AU 5 145450617 145450617 single base substitution C T intron_variant MELA-AU 5 145450624 145450624 single base substitution C T intron_variant MELA-AU 5 145450713 145450713 single base substitution G A intron_variant MELA-AU 5 145450768 145450768 single base substitution G A intron_variant MELA-AU 5 145450844 145450844 single base substitution C T intron_variant MELA-AU 5 145451034 145451034 single base substitution C T intron_variant MELA-AU 5 145451167 145451167 single base substitution G A intron_variant MELA-AU 5 145451371 145451371 single base substitution G A intron_variant MELA-AU 5 145451476 145451476 single base substitution G A intron_variant MELA-AU 5 145451782 145451782 single base substitution G A intron_variant MELA-AU 5 145451863 145451863 single base substitution G A intron_variant MELA-AU 5 145452144 145452144 single base substitution G A intron_variant MELA-AU 5 145452230 145452230 single base substitution C T intron_variant MELA-AU 5 145452237 145452237 single base substitution A T intron_variant MELA-AU 5 145452570 145452570 single base substitution C T intron_variant MELA-AU 5 145452829 145452829 single base substitution C T intron_variant MELA-AU 5 145452955 145452955 single base substitution C T intron_variant MELA-AU 5 145453129 145453129 single base substitution C T intron_variant MELA-AU 5 145453215 145453215 single base substitution T G intron_variant MELA-AU 5 145453252 145453252 single base substitution C T intron_variant MELA-AU 5 145453633 145453633 single base substitution C T intron_variant MELA-AU 5 145453762 145453762 single base substitution C T intron_variant MELA-AU 5 145453936 145453936 single base substitution G A intron_variant MELA-AU 5 145454226 145454226 single base substitution C T intron_variant MELA-AU 5 145454227 145454227 single base substitution C T intron_variant MELA-AU 5 145454607 145454607 single base substitution C T intron_variant MELA-AU 5 145454639 145454639 single base substitution A G intron_variant MELA-AU 5 145454734 145454734 single base substitution G A intron_variant MELA-AU 5 145454913 145454913 single base substitution G A intron_variant MELA-AU 5 145454970 145454970 single base substitution G A intron_variant MELA-AU 5 145455193 145455193 single base substitution G A intron_variant MELA-AU 5 145455319 145455319 single base substitution G A intron_variant MELA-AU 5 145455667 145455667 single base substitution G A intron_variant MELA-AU 5 145455788 145455788 single base substitution A C intron_variant MELA-AU 5 145455825 145455825 single base substitution G A intron_variant MELA-AU 5 145456005 145456005 single base substitution C T intron_variant MELA-AU 5 145456087 145456087 single base substitution C T intron_variant MELA-AU 5 145456572 145456572 single base substitution G A intron_variant MELA-AU 5 145456589 145456589 single base substitution G A intron_variant MELA-AU 5 145456709 145456709 single base substitution C T intron_variant MELA-AU 5 145456829 145456829 single base substitution G A intron_variant MELA-AU 5 145456884 145456884 single base substitution G A intron_variant MELA-AU 5 145457045 145457045 single base substitution C T intron_variant MELA-AU 5 145457269 145457269 single base substitution C T intron_variant MELA-AU 5 145457277 145457277 single base substitution G A intron_variant MELA-AU 5 145457289 145457289 single base substitution C T intron_variant MELA-AU 5 145457366 145457366 single base substitution G A intron_variant MELA-AU 5 145457424 145457424 single base substitution C T intron_variant MELA-AU 5 145457438 145457438 single base substitution G A intron_variant MELA-AU 5 145457470 145457470 single base substitution C T intron_variant MELA-AU 5 145457523 145457523 single base substitution G A intron_variant MELA-AU 5 145457590 145457590 single base substitution G A intron_variant MELA-AU 5 145458153 145458153 single base substitution G A 3_prime_UTR_variant MELA-AU 5 145458430 145458430 single base substitution C T 3_prime_UTR_variant MELA-AU 5 145458485 145458485 single base substitution T C 3_prime_UTR_variant MELA-AU 5 145458649 145458649 single base substitution G A 3_prime_UTR_variant MELA-AU 5 145458711 145458711 single base substitution G A 3_prime_UTR_variant MELA-AU 5 145459238 145459238 single base substitution C T 3_prime_UTR_variant MELA-AU 5 145459300 145459300 single base substitution C T 3_prime_UTR_variant MELA-AU 5 145459562 145459562 single base substitution G A 3_prime_UTR_variant MELA-AU 5 145459586 145459586 single base substitution G A 3_prime_UTR_variant MELA-AU 5 145459706 145459706 single base substitution G A 3_prime_UTR_variant MELA-AU 5 145459829 145459829 single base substitution G A 3_prime_UTR_variant MELA-AU 5 145459835 145459835 single base substitution G A 3_prime_UTR_variant MELA-AU 5 145459844 145459844 single base substitution G A 3_prime_UTR_variant MELA-AU 5 145459971 145459971 single base substitution G A 3_prime_UTR_variant MELA-AU 5 145460246 145460246 single base substitution C T 3_prime_UTR_variant MELA-AU 5 145460371 145460371 single base substitution C A 3_prime_UTR_variant MELA-AU 5 145460379 145460379 single base substitution C T 3_prime_UTR_variant MELA-AU 5 145460455 145460455 single base substitution G A 3_prime_UTR_variant MELA-AU 5 145460484 145460484 single base substitution C T 3_prime_UTR_variant MELA-AU 5 145460663 145460663 single base substitution G A 3_prime_UTR_variant MELA-AU 5 145460670 145460670 single base substitution C T 3_prime_UTR_variant MELA-AU 5 145460703 145460703 single base substitution C T 3_prime_UTR_variant MELA-AU 5 145460916 145460916 single base substitution C T 3_prime_UTR_variant MELA-AU 5 145461101 145461101 single base substitution G A 3_prime_UTR_variant MELA-AU 5 145461147 145461147 single base substitution G A 3_prime_UTR_variant MELA-AU 5 145461379 145461379 single base substitution G A downstream_gene_variant MELA-AU 5 145461605 145461605 single base substitution G A downstream_gene_variant MELA-AU 5 145461627 145461628 multiple base substitution (>=2bp and <=200bp) CC TT downstream_gene_variant MELA-AU 5 145461902 145461902 single base substitution C T downstream_gene_variant MELA-AU 5 145462158 145462159 multiple base substitution (>=2bp and <=200bp) GA CG downstream_gene_variant MELA-AU 5 145462292 145462292 single base substitution G A downstream_gene_variant MELA-AU 5 145462311 145462311 single base substitution G A downstream_gene_variant MELA-AU 5 145462368 145462368 single base substitution G A downstream_gene_variant MELA-AU 5 145462772 145462772 single base substitution G A downstream_gene_variant MELA-AU 5 145462946 145462946 single base substitution G A downstream_gene_variant MELA-AU 5 145462947 145462947 single base substitution G A downstream_gene_variant MELA-AU 5 145463023 145463023 single base substitution C T downstream_gene_variant MELA-AU 5 145463174 145463174 single base substitution G A downstream_gene_variant MELA-AU 5 145463432 145463432 single base substitution G A downstream_gene_variant MELA-AU 5 145464757 145464757 single base substitution G A downstream_gene_variant MELA-AU 5 145464995 145464995 single base substitution G A downstream_gene_variant MELA-AU 5 145465941 145465941 single base substitution T A downstream_gene_variant MELA-AU 5 145466143 145466143 single base substitution C T downstream_gene_variant MELA-AU 5 145466209 145466209 single base substitution G A downstream_gene_variant MELA-AU 5 145466327 145466327 single base substitution A T downstream_gene_variant ORCA-IN 5 145317744 145317744 deletion of <=200bp G - downstream_gene_variant ORCA-IN 5 145317744 145317744 deletion of <=200bp G - frameshift_variant G85 ORCA-IN 5 145327670 145327670 single base substitution G A intron_variant ORCA-IN 5 145335143 145335143 single base substitution C T intron_variant ORCA-IN 5 145349181 145349181 single base substitution C T intron_variant ORCA-IN 5 145401293 145401293 deletion of <=200bp C - intron_variant ORCA-IN 5 145420274 145420274 single base substitution G C intron_variant ORCA-IN 5 145420274 145420274 single base substitution G C upstream_gene_variant ORCA-IN 5 145422312 145422312 single base substitution A G intron_variant ORCA-IN 5 145422312 145422312 single base substitution A G upstream_gene_variant ORCA-IN 5 145422705 145422705 single base substitution C T intron_variant ORCA-IN 5 145427074 145427074 single base substitution C A intron_variant ORCA-IN 5 145427074 145427074 single base substitution C A upstream_gene_variant ORCA-IN 5 145433361 145433361 single base substitution G A downstream_gene_variant ORCA-IN 5 145433361 145433361 single base substitution G A intron_variant ORCA-IN 5 145433361 145433361 single base substitution G A upstream_gene_variant ORCA-IN 5 145435701 145435701 single base substitution C A exon_variant ORCA-IN 5 145435701 145435701 single base substitution C A missense_variant P494T 1480C>A ORCA-IN 5 145454146 145454146 insertion of <=200bp - AC intron_variant OV-AU 5 145311553 145311553 single base substitution A G upstream_gene_variant OV-AU 5 145317798 145317798 single base substitution A G downstream_gene_variant OV-AU 5 145317798 145317798 single base substitution A G missense_variant R103G 307A>G OV-AU 5 145340541 145340541 single base substitution G A intron_variant OV-AU 5 145341862 145341862 single base substitution G T intron_variant OV-AU 5 145342323 145342323 single base substitution G C intron_variant OV-AU 5 145348323 145348323 single base substitution A T intron_variant OV-AU 5 145351251 145351251 single base substitution G C intron_variant OV-AU 5 145355570 145355570 single base substitution G C intron_variant OV-AU 5 145362617 145362617 single base substitution C G intron_variant OV-AU 5 145365514 145365514 single base substitution C T intron_variant OV-AU 5 145369987 145369987 single base substitution C T intron_variant OV-AU 5 145372804 145372804 single base substitution C G intron_variant OV-AU 5 145374499 145374499 single base substitution T C intron_variant OV-AU 5 145384467 145384467 single base substitution A C intron_variant OV-AU 5 145385181 145385181 single base substitution T C intron_variant OV-AU 5 145393362 145393362 single base substitution C A missense_variant S266Y 797C>A OV-AU 5 145397010 145397010 single base substitution T C intron_variant OV-AU 5 145399880 145399880 single base substitution C T intron_variant OV-AU 5 145403702 145403702 single base substitution T A intron_variant OV-AU 5 145404421 145404421 single base substitution T A intron_variant OV-AU 5 145406793 145406793 single base substitution G A intron_variant OV-AU 5 145425099 145425099 single base substitution A G intron_variant OV-AU 5 145425099 145425099 single base substitution A G upstream_gene_variant OV-AU 5 145426614 145426614 single base substitution C A intron_variant OV-AU 5 145426614 145426614 single base substitution C A upstream_gene_variant OV-AU 5 145426615 145426615 single base substitution C T intron_variant OV-AU 5 145426615 145426615 single base substitution C T upstream_gene_variant OV-AU 5 145427645 145427645 single base substitution G T intron_variant OV-AU 5 145427645 145427645 single base substitution G T upstream_gene_variant OV-AU 5 145428002 145428002 single base substitution T A intron_variant OV-AU 5 145428002 145428002 single base substitution T A upstream_gene_variant OV-AU 5 145428975 145428975 single base substitution A C downstream_gene_variant OV-AU 5 145428975 145428975 single base substitution A C intron_variant OV-AU 5 145428975 145428975 single base substitution A C upstream_gene_variant OV-AU 5 145432560 145432560 single base substitution G A downstream_gene_variant OV-AU 5 145432560 145432560 single base substitution G A intron_variant OV-AU 5 145432560 145432560 single base substitution G A upstream_gene_variant OV-AU 5 145436529 145436529 single base substitution T C intron_variant OV-AU 5 145437181 145437181 single base substitution C G intron_variant OV-AU 5 145441250 145441250 single base substitution G T downstream_gene_variant OV-AU 5 145441250 145441250 single base substitution G T intron_variant OV-AU 5 145449417 145449417 single base substitution G T intron_variant OV-AU 5 145452795 145452795 single base substitution G C intron_variant OV-AU 5 145455285 145455285 single base substitution T A intron_variant OV-AU 5 145456523 145456523 single base substitution T A intron_variant OV-AU 5 145460630 145460630 single base substitution G T 3_prime_UTR_variant OV-AU 5 145462691 145462691 single base substitution C A downstream_gene_variant OV-US 5 145442061 145442061 single base substitution G A downstream_gene_variant OV-US 5 145442061 145442061 single base substitution G A exon_variant OV-US 5 145442061 145442061 single base substitution G A missense_variant G663R 1987G>A PACA-AU 5 145312885 145312885 single base substitution T G upstream_gene_variant PACA-AU 5 145319478 145319478 single base substitution C T downstream_gene_variant PACA-AU 5 145319478 145319478 single base substitution C T intron_variant PACA-AU 5 145330910 145330910 single base substitution C T intron_variant PACA-AU 5 145333582 145333582 single base substitution T C intron_variant PACA-AU 5 145334432 145334433 deletion of <=200bp GA - intron_variant PACA-AU 5 145338445 145338445 deletion of <=200bp T - intron_variant PACA-AU 5 145339162 145339162 single base substitution C G intron_variant PACA-AU 5 145339208 145339208 single base substitution G A intron_variant PACA-AU 5 145339660 145339660 single base substitution C T intron_variant PACA-AU 5 145347142 145347142 single base substitution C T intron_variant PACA-AU 5 145351602 145351602 single base substitution C T intron_variant PACA-AU 5 145352587 145352587 single base substitution G T intron_variant PACA-AU 5 145354196 145354196 single base substitution A G intron_variant PACA-AU 5 145360669 145360669 deletion of <=200bp T - intron_variant PACA-AU 5 145368566 145368566 single base substitution G T intron_variant PACA-AU 5 145369250 145369250 single base substitution C A intron_variant PACA-AU 5 145374984 145374984 single base substitution A G intron_variant PACA-AU 5 145381882 145381882 single base substitution C T intron_variant PACA-AU 5 145396146 145396146 single base substitution A G intron_variant PACA-AU 5 145398436 145398436 single base substitution C T intron_variant PACA-AU 5 145398552 145398552 single base substitution T A intron_variant PACA-AU 5 145401455 145401455 single base substitution G A intron_variant PACA-AU 5 145404626 145404626 single base substitution T C intron_variant PACA-AU 5 145407801 145407801 single base substitution A T intron_variant PACA-AU 5 145410345 145410345 insertion of <=200bp - A intron_variant PACA-AU 5 145415019 145415019 insertion of <=200bp - AAAGCTATT intron_variant PACA-AU 5 145416839 145416839 single base substitution G T intron_variant PACA-AU 5 145418641 145418641 single base substitution G A intron_variant PACA-AU 5 145418641 145418641 single base substitution G A upstream_gene_variant PACA-AU 5 145419463 145419463 single base substitution G T intron_variant PACA-AU 5 145419463 145419463 single base substitution G T upstream_gene_variant PACA-AU 5 145428648 145428648 single base substitution C A exon_variant PACA-AU 5 145428648 145428648 single base substitution C A missense_variant L388M 1162C>A PACA-AU 5 145428648 145428648 single base substitution C A upstream_gene_variant PACA-AU 5 145432154 145432154 single base substitution G A downstream_gene_variant PACA-AU 5 145432154 145432154 single base substitution G A intron_variant PACA-AU 5 145432154 145432154 single base substitution G A upstream_gene_variant PACA-AU 5 145437431 145437431 single base substitution G C intron_variant PACA-AU 5 145437432 145437432 single base substitution G T intron_variant PACA-AU 5 145438533 145438533 single base substitution A C intron_variant PACA-AU 5 145446728 145446728 single base substitution C T downstream_gene_variant PACA-AU 5 145446728 145446728 single base substitution C T intron_variant PACA-AU 5 145454213 145454213 single base substitution T A intron_variant PACA-AU 5 145457314 145457314 single base substitution C G intron_variant PACA-AU 5 145460591 145460591 single base substitution G T 3_prime_UTR_variant PACA-AU 5 145462675 145462675 single base substitution T A downstream_gene_variant PACA-AU 5 145463754 145463757 deletion of <=200bp AAAC - downstream_gene_variant PACA-CA 5 145314134 145314134 single base substitution C T upstream_gene_variant PACA-CA 5 145314571 145314571 single base substitution C T upstream_gene_variant PACA-CA 5 145318553 145318553 deletion of <=200bp A - downstream_gene_variant PACA-CA 5 145318553 145318553 deletion of <=200bp A - intron_variant PACA-CA 5 145319330 145319330 single base substitution A G downstream_gene_variant PACA-CA 5 145319330 145319330 single base substitution A G intron_variant PACA-CA 5 145319503 145319503 single base substitution T C downstream_gene_variant PACA-CA 5 145319503 145319503 single base substitution T C intron_variant PACA-CA 5 145320024 145320024 single base substitution C T downstream_gene_variant PACA-CA 5 145320024 145320024 single base substitution C T intron_variant PACA-CA 5 145328809 145328809 single base substitution C T intron_variant PACA-CA 5 145335036 145335036 single base substitution G A intron_variant PACA-CA 5 145338231 145338231 single base substitution C T intron_variant PACA-CA 5 145340396 145340396 single base substitution G A intron_variant PACA-CA 5 145344912 145344912 single base substitution G T intron_variant PACA-CA 5 145344913 145344913 single base substitution A T intron_variant PACA-CA 5 145345208 145345208 insertion of <=200bp - CAA intron_variant PACA-CA 5 145349240 145349240 single base substitution G T intron_variant PACA-CA 5 145350094 145350094 single base substitution T C intron_variant PACA-CA 5 145354876 145354876 single base substitution T A intron_variant PACA-CA 5 145355937 145355937 single base substitution T G intron_variant PACA-CA 5 145358866 145358866 single base substitution A G intron_variant PACA-CA 5 145359546 145359556 deletion of <=200bp ACAGAGACATT - intron_variant PACA-CA 5 145361791 145361791 single base substitution C T intron_variant PACA-CA 5 145368202 145368202 insertion of <=200bp - A intron_variant PACA-CA 5 145369997 145369997 single base substitution C T intron_variant PACA-CA 5 145371700 145371700 single base substitution C T intron_variant PACA-CA 5 145375210 145375210 single base substitution A G intron_variant PACA-CA 5 145387326 145387326 single base substitution T C intron_variant PACA-CA 5 145390236 145390238 deletion of <=200bp TCT - intron_variant PACA-CA 5 145392747 145392747 single base substitution C T intron_variant PACA-CA 5 145393362 145393362 single base substitution C A missense_variant S266Y 797C>A PACA-CA 5 145399900 145399900 single base substitution A G intron_variant PACA-CA 5 145405265 145405265 single base substitution A G intron_variant PACA-CA 5 145406549 145406549 single base substitution C T intron_variant PACA-CA 5 145407464 145407464 single base substitution C G intron_variant PACA-CA 5 145411190 145411190 single base substitution G A intron_variant PACA-CA 5 145411643 145411643 single base substitution C A intron_variant PACA-CA 5 145411900 145411900 deletion of <=200bp C - intron_variant PACA-CA 5 145412885 145412885 deletion of <=200bp T - intron_variant PACA-CA 5 145415541 145415541 single base substitution C T intron_variant PACA-CA 5 145418020 145418020 single base substitution G T intron_variant PACA-CA 5 145418020 145418020 single base substitution G T upstream_gene_variant PACA-CA 5 145420011 145420033 deletion of <=200bp CTGCTCAAAGAGCTAAGAAAAGA - intron_variant PACA-CA 5 145420011 145420033 deletion of <=200bp CTGCTCAAAGAGCTAAGAAAAGA - upstream_gene_variant PACA-CA 5 145421250 145421250 single base substitution C G intron_variant PACA-CA 5 145421250 145421250 single base substitution C G upstream_gene_variant PACA-CA 5 145421329 145421329 insertion of <=200bp - A intron_variant PACA-CA 5 145421329 145421329 insertion of <=200bp - A upstream_gene_variant PACA-CA 5 145423200 145423200 single base substitution T A intron_variant PACA-CA 5 145423201 145423201 single base substitution C T intron_variant PACA-CA 5 145423696 145423696 single base substitution G A intron_variant PACA-CA 5 145428376 145428376 single base substitution T C intron_variant PACA-CA 5 145428376 145428376 single base substitution T C upstream_gene_variant PACA-CA 5 145429365 145429365 single base substitution G A downstream_gene_variant PACA-CA 5 145429365 145429365 single base substitution G A intron_variant PACA-CA 5 145429365 145429365 single base substitution G A upstream_gene_variant PACA-CA 5 145430410 145430410 single base substitution G T downstream_gene_variant PACA-CA 5 145430410 145430410 single base substitution G T intron_variant PACA-CA 5 145430410 145430410 single base substitution G T upstream_gene_variant PACA-CA 5 145435415 145435415 single base substitution G A exon_variant PACA-CA 5 145435415 145435415 single base substitution G A intron_variant PACA-CA 5 145437529 145437529 single base substitution C A intron_variant PACA-CA 5 145438302 145438302 single base substitution C T intron_variant PACA-CA 5 145439098 145439098 insertion of <=200bp - GT intron_variant PACA-CA 5 145440563 145440586 deletion of <=200bp CGCCATCACCACCTCCATCACCAC - downstream_gene_variant PACA-CA 5 145440563 145440586 deletion of <=200bp CGCCATCACCACCTCCATCACCAC - intron_variant PACA-CA 5 145441460 145441460 single base substitution G A downstream_gene_variant PACA-CA 5 145441460 145441460 single base substitution G A intron_variant PACA-CA 5 145442773 145442773 single base substitution G A 3_prime_UTR_variant PACA-CA 5 145442773 145442773 single base substitution G A downstream_gene_variant PACA-CA 5 145442773 145442773 single base substitution G A intron_variant PACA-CA 5 145455523 145455523 single base substitution A G intron_variant PACA-CA 5 145457689 145457689 single base substitution C T intron_variant PACA-CA 5 145458033 145458033 single base substitution G T 3_prime_UTR_variant PACA-CA 5 145458849 145458849 insertion of <=200bp - T 3_prime_UTR_variant PACA-CA 5 145464464 145464464 single base substitution A C downstream_gene_variant PAEN-AU 5 145322770 145322770 single base substitution C G intron_variant PAEN-AU 5 145344345 145344345 single base substitution C T intron_variant PAEN-AU 5 145361877 145361877 single base substitution T C intron_variant PAEN-AU 5 145369265 145369265 single base substitution G C intron_variant PAEN-AU 5 145390508 145390508 single base substitution G A intron_variant PAEN-AU 5 145411766 145411766 single base substitution G T intron_variant PAEN-AU 5 145412427 145412427 single base substitution C A intron_variant PAEN-AU 5 145423847 145423847 single base substitution G T intron_variant PAEN-AU 5 145424566 145424566 single base substitution T C intron_variant PAEN-AU 5 145452820 145452820 single base substitution C T intron_variant PAEN-IT 5 145311910 145311910 single base substitution G A upstream_gene_variant PAEN-IT 5 145327730 145327730 single base substitution G T intron_variant PAEN-IT 5 145332267 145332267 single base substitution C T intron_variant PAEN-IT 5 145359807 145359807 single base substitution G A intron_variant PAEN-IT 5 145451820 145451820 single base substitution C A intron_variant PAEN-IT 5 145465538 145465538 single base substitution G C downstream_gene_variant PBCA-DE 5 145313378 145313378 single base substitution A T upstream_gene_variant PBCA-DE 5 145314730 145314730 single base substitution G A upstream_gene_variant PBCA-DE 5 145315161 145315161 single base substitution C A upstream_gene_variant PBCA-DE 5 145315204 145315204 single base substitution C T upstream_gene_variant PBCA-DE 5 145319022 145319022 single base substitution A T downstream_gene_variant PBCA-DE 5 145319022 145319022 single base substitution A T intron_variant PBCA-DE 5 145320400 145320400 single base substitution T C downstream_gene_variant PBCA-DE 5 145320400 145320400 single base substitution T C intron_variant PBCA-DE 5 145326717 145326718 deletion of <=200bp AT - intron_variant PBCA-DE 5 145330918 145330918 single base substitution A G intron_variant PBCA-DE 5 145332688 145332689 deletion of <=200bp CA - intron_variant PBCA-DE 5 145341091 145341091 single base substitution A G intron_variant PBCA-DE 5 145353824 145353824 single base substitution C T intron_variant PBCA-DE 5 145376090 145376090 single base substitution A T intron_variant PBCA-DE 5 145382001 145382001 single base substitution G A intron_variant PBCA-DE 5 145392674 145392674 single base substitution G A intron_variant PBCA-DE 5 145395353 145395353 single base substitution C T intron_variant PBCA-DE 5 145396541 145396541 single base substitution G T intron_variant PBCA-DE 5 145402054 145402054 single base substitution C A intron_variant PBCA-DE 5 145402193 145402193 single base substitution T C intron_variant PBCA-DE 5 145402309 145402309 single base substitution G A intron_variant PBCA-DE 5 145404098 145404098 single base substitution G A intron_variant PBCA-DE 5 145404496 145404496 single base substitution T C intron_variant PBCA-DE 5 145411726 145411726 single base substitution G T intron_variant PBCA-DE 5 145414720 145414720 single base substitution A C intron_variant PBCA-DE 5 145426718 145426719 deletion of <=200bp GT - intron_variant PBCA-DE 5 145426718 145426719 deletion of <=200bp GT - upstream_gene_variant PBCA-DE 5 145432912 145432912 single base substitution T C downstream_gene_variant PBCA-DE 5 145432912 145432912 single base substitution T C intron_variant PBCA-DE 5 145432912 145432912 single base substitution T C upstream_gene_variant PBCA-DE 5 145437529 145437529 single base substitution C A intron_variant PBCA-DE 5 145443430 145443430 insertion of <=200bp - A downstream_gene_variant PBCA-DE 5 145443430 145443430 insertion of <=200bp - A intron_variant PBCA-DE 5 145444429 145444429 single base substitution G A downstream_gene_variant PBCA-DE 5 145444429 145444429 single base substitution G A intron_variant PBCA-DE 5 145447315 145447315 single base substitution G C downstream_gene_variant PBCA-DE 5 145447315 145447315 single base substitution G C intron_variant PBCA-DE 5 145449281 145449281 single base substitution C T intron_variant PBCA-DE 5 145454337 145454338 deletion of <=200bp CT - intron_variant PRAD-CA 5 145330432 145330432 single base substitution T G intron_variant PRAD-CA 5 145343407 145343407 single base substitution C T intron_variant PRAD-CA 5 145344500 145344500 single base substitution A G intron_variant PRAD-CA 5 145358262 145358262 single base substitution G A intron_variant PRAD-CA 5 145367461 145367461 single base substitution C T intron_variant PRAD-CA 5 145429145 145429145 single base substitution C T downstream_gene_variant PRAD-CA 5 145429145 145429145 single base substitution C T intron_variant PRAD-CA 5 145429145 145429145 single base substitution C T upstream_gene_variant PRAD-CA 5 145430041 145430041 single base substitution C G downstream_gene_variant PRAD-CA 5 145430041 145430041 single base substitution C G intron_variant PRAD-CA 5 145443442 145443442 single base substitution A C downstream_gene_variant PRAD-CA 5 145443442 145443442 single base substitution A C intron_variant PRAD-UK 5 145314681 145314681 single base substitution A T upstream_gene_variant PRAD-UK 5 145320039 145320039 single base substitution T G downstream_gene_variant PRAD-UK 5 145320039 145320039 single base substitution T G intron_variant PRAD-UK 5 145358340 145358340 single base substitution C G intron_variant PRAD-UK 5 145368140 145368140 single base substitution G A intron_variant PRAD-UK 5 145375300 145375300 single base substitution T G intron_variant PRAD-UK 5 145375311 145375311 single base substitution A T intron_variant PRAD-UK 5 145375882 145375882 single base substitution G T intron_variant PRAD-UK 5 145387166 145387166 insertion of <=200bp - G intron_variant PRAD-UK 5 145392410 145392410 single base substitution G A intron_variant PRAD-UK 5 145393421 145393421 single base substitution C T missense_variant R286C 856C>T PRAD-UK 5 145425076 145425076 single base substitution T C intron_variant PRAD-UK 5 145425076 145425076 single base substitution T C upstream_gene_variant PRAD-UK 5 145444193 145444210 deletion of <=200bp GAGAGAGAGAGAGAAAGA - downstream_gene_variant PRAD-UK 5 145444193 145444210 deletion of <=200bp GAGAGAGAGAGAGAAAGA - intron_variant PRAD-UK 5 145447003 145447003 single base substitution C G downstream_gene_variant PRAD-UK 5 145447003 145447003 single base substitution C G intron_variant PRAD-UK 5 145456901 145456901 single base substitution G T intron_variant PRAD-UK 5 145456906 145456906 single base substitution T C intron_variant PRAD-UK 5 145458855 145458855 insertion of <=200bp - A 3_prime_UTR_variant PRAD-UK 5 145462238 145462238 single base substitution C T downstream_gene_variant RECA-EU 5 145314454 145314454 single base substitution T A upstream_gene_variant RECA-EU 5 145344189 145344189 single base substitution C A intron_variant RECA-EU 5 145352318 145352318 single base substitution T A intron_variant RECA-EU 5 145352545 145352545 single base substitution G T intron_variant RECA-EU 5 145354456 145354456 single base substitution C G intron_variant RECA-EU 5 145371658 145371658 single base substitution G A intron_variant RECA-EU 5 145382313 145382313 single base substitution C T intron_variant RECA-EU 5 145389443 145389443 single base substitution T G intron_variant RECA-EU 5 145396719 145396719 single base substitution T C intron_variant RECA-EU 5 145405907 145405907 single base substitution C T intron_variant RECA-EU 5 145412055 145412055 single base substitution A G intron_variant RECA-EU 5 145412088 145412088 single base substitution G A intron_variant RECA-EU 5 145418419 145418419 single base substitution A T intron_variant RECA-EU 5 145418419 145418419 single base substitution A T upstream_gene_variant RECA-EU 5 145442563 145442563 single base substitution C A 3_prime_UTR_variant RECA-EU 5 145442563 145442563 single base substitution C A downstream_gene_variant RECA-EU 5 145442563 145442563 single base substitution C A intron_variant RECA-EU 5 145452960 145452960 single base substitution T A intron_variant RECA-EU 5 145456919 145456919 single base substitution T G intron_variant SKCA-BR 5 145311196 145311196 single base substitution C T upstream_gene_variant SKCA-BR 5 145312488 145312488 single base substitution G C upstream_gene_variant SKCA-BR 5 145313135 145313135 single base substitution C T upstream_gene_variant SKCA-BR 5 145313449 145313449 single base substitution C T upstream_gene_variant SKCA-BR 5 145313673 145313673 single base substitution G A upstream_gene_variant SKCA-BR 5 145314454 145314454 single base substitution T A upstream_gene_variant SKCA-BR 5 145315285 145315285 single base substitution G A upstream_gene_variant SKCA-BR 5 145315825 145315825 single base substitution C T upstream_gene_variant SKCA-BR 5 145317471 145317471 single base substitution G A 5_prime_UTR_variant SKCA-BR 5 145317471 145317471 single base substitution G A exon_variant SKCA-BR 5 145317614 145317614 single base substitution C T downstream_gene_variant SKCA-BR 5 145317614 145317614 single base substitution C T synonymous_variant F41F 123C>T SKCA-BR 5 145317746 145317746 single base substitution G A downstream_gene_variant SKCA-BR 5 145317746 145317746 single base substitution G A synonymous_variant G85G 255G>A SKCA-BR 5 145317858 145317858 single base substitution C T downstream_gene_variant SKCA-BR 5 145317858 145317858 single base substitution C T missense_variant H123Y 367C>T SKCA-BR 5 145318060 145318060 single base substitution G A downstream_gene_variant SKCA-BR 5 145318060 145318060 single base substitution G A intron_variant SKCA-BR 5 145318130 145318130 single base substitution G A downstream_gene_variant SKCA-BR 5 145318130 145318130 single base substitution G A intron_variant SKCA-BR 5 145319223 145319223 single base substitution C T downstream_gene_variant SKCA-BR 5 145319223 145319223 single base substitution C T intron_variant SKCA-BR 5 145321232 145321232 single base substitution G A downstream_gene_variant SKCA-BR 5 145321232 145321232 single base substitution G A intron_variant SKCA-BR 5 145322127 145322127 single base substitution C T downstream_gene_variant SKCA-BR 5 145322127 145322127 single base substitution C T intron_variant SKCA-BR 5 145323212 145323212 single base substitution G A intron_variant SKCA-BR 5 145325305 145325305 single base substitution C T intron_variant SKCA-BR 5 145325697 145325697 single base substitution C T intron_variant SKCA-BR 5 145326185 145326185 single base substitution G A intron_variant SKCA-BR 5 145328242 145328242 single base substitution C T intron_variant SKCA-BR 5 145330047 145330047 single base substitution C T intron_variant SKCA-BR 5 145331046 145331046 single base substitution C T intron_variant SKCA-BR 5 145331720 145331720 single base substitution C T intron_variant SKCA-BR 5 145331881 145331881 single base substitution G A intron_variant SKCA-BR 5 145332793 145332793 single base substitution G A intron_variant SKCA-BR 5 145333457 145333457 single base substitution C T intron_variant SKCA-BR 5 145335409 145335409 single base substitution G A intron_variant SKCA-BR 5 145335470 145335470 single base substitution G A intron_variant SKCA-BR 5 145336096 145336096 single base substitution C T intron_variant SKCA-BR 5 145336180 145336180 single base substitution G A intron_variant SKCA-BR 5 145337086 145337086 single base substitution C T intron_variant SKCA-BR 5 145338891 145338891 single base substitution C T intron_variant SKCA-BR 5 145338962 145338962 single base substitution G A intron_variant SKCA-BR 5 145340737 145340737 insertion of <=200bp - CT intron_variant SKCA-BR 5 145341103 145341103 single base substitution C T intron_variant SKCA-BR 5 145341472 145341472 single base substitution G A intron_variant SKCA-BR 5 145341786 145341786 single base substitution G A intron_variant SKCA-BR 5 145342008 145342008 single base substitution C T intron_variant SKCA-BR 5 145342136 145342136 single base substitution C T intron_variant SKCA-BR 5 145342806 145342806 single base substitution A G intron_variant SKCA-BR 5 145343430 145343430 single base substitution C T intron_variant SKCA-BR 5 145343505 145343505 single base substitution C T intron_variant SKCA-BR 5 145343699 145343699 single base substitution C T intron_variant SKCA-BR 5 145344921 145344921 single base substitution G A intron_variant SKCA-BR 5 145344971 145344971 single base substitution C T intron_variant SKCA-BR 5 145345081 145345081 single base substitution G A intron_variant SKCA-BR 5 145347072 145347072 single base substitution C T intron_variant SKCA-BR 5 145347346 145347346 single base substitution C T intron_variant SKCA-BR 5 145347682 145347682 single base substitution G A intron_variant SKCA-BR 5 145347690 145347690 single base substitution G A intron_variant SKCA-BR 5 145348209 145348209 single base substitution C T intron_variant SKCA-BR 5 145348929 145348929 single base substitution G A intron_variant SKCA-BR 5 145349285 145349285 single base substitution G A intron_variant SKCA-BR 5 145350015 145350015 single base substitution C T intron_variant SKCA-BR 5 145351434 145351434 insertion of <=200bp - AATG intron_variant SKCA-BR 5 145351650 145351650 single base substitution C T intron_variant SKCA-BR 5 145351835 145351835 single base substitution C T intron_variant SKCA-BR 5 145352208 145352208 single base substitution G A intron_variant SKCA-BR 5 145352435 145352435 single base substitution G A intron_variant SKCA-BR 5 145352546 145352546 single base substitution T G intron_variant SKCA-BR 5 145354022 145354022 single base substitution G A intron_variant SKCA-BR 5 145354308 145354308 single base substitution C A intron_variant SKCA-BR 5 145354363 145354363 single base substitution G A intron_variant SKCA-BR 5 145355463 145355463 single base substitution G A intron_variant SKCA-BR 5 145356645 145356645 single base substitution G A intron_variant SKCA-BR 5 145356654 145356654 single base substitution G A intron_variant SKCA-BR 5 145357288 145357288 single base substitution C T intron_variant SKCA-BR 5 145357541 145357541 single base substitution G A intron_variant SKCA-BR 5 145358148 145358148 single base substitution T G intron_variant SKCA-BR 5 145358169 145358169 single base substitution G A intron_variant SKCA-BR 5 145358247 145358247 single base substitution G A intron_variant SKCA-BR 5 145358623 145358623 single base substitution G A intron_variant SKCA-BR 5 145361767 145361767 single base substitution C T intron_variant SKCA-BR 5 145362081 145362081 single base substitution C T intron_variant SKCA-BR 5 145362422 145362422 single base substitution G A intron_variant SKCA-BR 5 145362500 145362500 single base substitution C T intron_variant SKCA-BR 5 145362810 145362811 deletion of <=200bp CT - intron_variant SKCA-BR 5 145364811 145364811 single base substitution C T intron_variant SKCA-BR 5 145366137 145366137 single base substitution G T intron_variant SKCA-BR 5 145366140 145366140 single base substitution G A intron_variant SKCA-BR 5 145366492 145366492 single base substitution G A intron_variant SKCA-BR 5 145366561 145366561 single base substitution G A intron_variant SKCA-BR 5 145367486 145367486 single base substitution G A intron_variant SKCA-BR 5 145367619 145367619 single base substitution G A intron_variant SKCA-BR 5 145369594 145369594 single base substitution G A intron_variant SKCA-BR 5 145370212 145370212 single base substitution G A intron_variant SKCA-BR 5 145370823 145370823 single base substitution C T intron_variant SKCA-BR 5 145371214 145371214 single base substitution G A intron_variant SKCA-BR 5 145371579 145371579 single base substitution G A intron_variant SKCA-BR 5 145371622 145371622 single base substitution G A intron_variant SKCA-BR 5 145372006 145372006 single base substitution C T intron_variant SKCA-BR 5 145372575 145372575 single base substitution A G intron_variant SKCA-BR 5 145373537 145373537 single base substitution C T intron_variant SKCA-BR 5 145374331 145374331 single base substitution T A intron_variant SKCA-BR 5 145374477 145374477 single base substitution C T intron_variant SKCA-BR 5 145376080 145376080 single base substitution G A intron_variant SKCA-BR 5 145376375 145376375 single base substitution C T intron_variant SKCA-BR 5 145377231 145377231 single base substitution C T intron_variant SKCA-BR 5 145377316 145377316 single base substitution C A intron_variant SKCA-BR 5 145377351 145377351 single base substitution T A intron_variant SKCA-BR 5 145377432 145377432 single base substitution C T intron_variant SKCA-BR 5 145378586 145378586 insertion of <=200bp - AC intron_variant SKCA-BR 5 145378588 145378588 single base substitution T A intron_variant SKCA-BR 5 145378905 145378905 single base substitution G A intron_variant SKCA-BR 5 145379260 145379260 single base substitution G A intron_variant SKCA-BR 5 145379736 145379736 single base substitution G A missense_variant G165E 494G>A SKCA-BR 5 145382032 145382036 deletion of <=200bp AAAGG - intron_variant SKCA-BR 5 145382151 145382151 single base substitution C T intron_variant SKCA-BR 5 145382699 145382699 single base substitution G A intron_variant SKCA-BR 5 145383048 145383048 insertion of <=200bp - GA intron_variant SKCA-BR 5 145383886 145383886 single base substitution G A intron_variant SKCA-BR 5 145386425 145386425 single base substitution A G intron_variant SKCA-BR 5 145387195 145387195 single base substitution C T intron_variant SKCA-BR 5 145387848 145387848 single base substitution G A intron_variant SKCA-BR 5 145389176 145389176 single base substitution C T intron_variant SKCA-BR 5 145390518 145390518 single base substitution A G intron_variant SKCA-BR 5 145390598 145390598 single base substitution C T intron_variant SKCA-BR 5 145390806 145390806 single base substitution C T intron_variant SKCA-BR 5 145391564 145391564 single base substitution G A intron_variant SKCA-BR 5 145391961 145391961 single base substitution C T intron_variant SKCA-BR 5 145392010 145392010 single base substitution C T intron_variant SKCA-BR 5 145392100 145392100 single base substitution C T intron_variant SKCA-BR 5 145392829 145392829 single base substitution G A intron_variant SKCA-BR 5 145392923 145392923 single base substitution A G intron_variant SKCA-BR 5 145392938 145392938 single base substitution C T intron_variant SKCA-BR 5 145393464 145393464 single base substitution C T missense_variant S300F 899C>T SKCA-BR 5 145393953 145393953 single base substitution C T intron_variant SKCA-BR 5 145394143 145394143 single base substitution G A intron_variant SKCA-BR 5 145395398 145395398 single base substitution C T intron_variant SKCA-BR 5 145395709 145395709 single base substitution G A intron_variant SKCA-BR 5 145397396 145397396 single base substitution C T intron_variant SKCA-BR 5 145398640 145398640 single base substitution G A intron_variant SKCA-BR 5 145398866 145398866 single base substitution G A intron_variant SKCA-BR 5 145400121 145400121 single base substitution G A intron_variant SKCA-BR 5 145400606 145400606 single base substitution C T intron_variant SKCA-BR 5 145400952 145400952 single base substitution C T intron_variant SKCA-BR 5 145401859 145401859 single base substitution C T intron_variant SKCA-BR 5 145403012 145403012 single base substitution T C intron_variant SKCA-BR 5 145403448 145403448 single base substitution T G intron_variant SKCA-BR 5 145403471 145403471 single base substitution A T intron_variant SKCA-BR 5 145404354 145404354 single base substitution C T intron_variant SKCA-BR 5 145404554 145404554 single base substitution A G intron_variant SKCA-BR 5 145405140 145405140 single base substitution C T intron_variant SKCA-BR 5 145405633 145405633 single base substitution G A intron_variant SKCA-BR 5 145405684 145405684 single base substitution G A intron_variant SKCA-BR 5 145408131 145408131 single base substitution G C intron_variant SKCA-BR 5 145408158 145408164 deletion of <=200bp CCCACCA - intron_variant SKCA-BR 5 145408377 145408377 single base substitution G A intron_variant SKCA-BR 5 145408748 145408748 single base substitution C T intron_variant SKCA-BR 5 145410644 145410644 single base substitution G A intron_variant SKCA-BR 5 145410884 145410884 single base substitution G A intron_variant SKCA-BR 5 145411597 145411597 single base substitution G A intron_variant SKCA-BR 5 145411942 145411942 single base substitution G A intron_variant SKCA-BR 5 145411944 145411944 single base substitution T A intron_variant SKCA-BR 5 145412127 145412127 single base substitution C T intron_variant SKCA-BR 5 145413013 145413013 insertion of <=200bp - GC intron_variant SKCA-BR 5 145413014 145413033 deletion of <=200bp CTTTTTTTTTTTTTTTTTTT - intron_variant SKCA-BR 5 145413015 145413015 single base substitution T C intron_variant SKCA-BR 5 145413666 145413666 single base substitution C T intron_variant SKCA-BR 5 145415474 145415474 single base substitution C T intron_variant SKCA-BR 5 145416245 145416245 single base substitution G A intron_variant SKCA-BR 5 145416291 145416291 single base substitution C G intron_variant SKCA-BR 5 145416373 145416373 single base substitution C T intron_variant SKCA-BR 5 145416748 145416748 single base substitution G A intron_variant SKCA-BR 5 145416795 145416795 single base substitution C T intron_variant SKCA-BR 5 145417114 145417114 single base substitution G A intron_variant SKCA-BR 5 145417664 145417664 single base substitution A T intron_variant SKCA-BR 5 145417664 145417664 single base substitution A T upstream_gene_variant SKCA-BR 5 145417799 145417799 single base substitution G A intron_variant SKCA-BR 5 145417799 145417799 single base substitution G A upstream_gene_variant SKCA-BR 5 145418703 145418703 single base substitution C T intron_variant SKCA-BR 5 145418703 145418703 single base substitution C T upstream_gene_variant SKCA-BR 5 145419454 145419454 single base substitution A T intron_variant SKCA-BR 5 145419454 145419454 single base substitution A T upstream_gene_variant SKCA-BR 5 145419690 145419690 single base substitution G C intron_variant SKCA-BR 5 145419690 145419690 single base substitution G C upstream_gene_variant SKCA-BR 5 145420051 145420051 single base substitution G A intron_variant SKCA-BR 5 145420051 145420051 single base substitution G A upstream_gene_variant SKCA-BR 5 145420057 145420057 single base substitution G A intron_variant SKCA-BR 5 145420057 145420057 single base substitution G A upstream_gene_variant SKCA-BR 5 145420252 145420252 single base substitution C T intron_variant SKCA-BR 5 145420252 145420252 single base substitution C T upstream_gene_variant SKCA-BR 5 145422017 145422017 single base substitution G A intron_variant SKCA-BR 5 145422017 145422017 single base substitution G A upstream_gene_variant SKCA-BR 5 145422260 145422260 single base substitution A G intron_variant SKCA-BR 5 145422260 145422260 single base substitution A G upstream_gene_variant SKCA-BR 5 145423180 145423180 single base substitution C A intron_variant SKCA-BR 5 145423322 145423322 single base substitution C G intron_variant SKCA-BR 5 145423322 145423322 single base substitution C G splice_region_variant SKCA-BR 5 145424980 145424980 single base substitution C T intron_variant SKCA-BR 5 145424980 145424980 single base substitution C T upstream_gene_variant SKCA-BR 5 145425792 145425792 single base substitution A C intron_variant SKCA-BR 5 145425792 145425792 single base substitution A C upstream_gene_variant SKCA-BR 5 145426070 145426070 single base substitution G A intron_variant SKCA-BR 5 145426070 145426070 single base substitution G A upstream_gene_variant SKCA-BR 5 145426837 145426837 single base substitution T G intron_variant SKCA-BR 5 145426837 145426837 single base substitution T G upstream_gene_variant SKCA-BR 5 145427011 145427011 single base substitution G A intron_variant SKCA-BR 5 145427011 145427011 single base substitution G A upstream_gene_variant SKCA-BR 5 145427020 145427020 single base substitution G A intron_variant SKCA-BR 5 145427020 145427020 single base substitution G A upstream_gene_variant SKCA-BR 5 145427021 145427021 single base substitution G A intron_variant SKCA-BR 5 145427021 145427021 single base substitution G A upstream_gene_variant SKCA-BR 5 145427523 145427523 single base substitution C T intron_variant SKCA-BR 5 145427523 145427523 single base substitution C T upstream_gene_variant SKCA-BR 5 145427877 145427877 insertion of <=200bp - CA intron_variant SKCA-BR 5 145427877 145427877 insertion of <=200bp - CA upstream_gene_variant SKCA-BR 5 145432862 145432862 single base substitution C T downstream_gene_variant SKCA-BR 5 145432862 145432862 single base substitution C T intron_variant SKCA-BR 5 145432862 145432862 single base substitution C T upstream_gene_variant SKCA-BR 5 145433254 145433254 single base substitution C T downstream_gene_variant SKCA-BR 5 145433254 145433254 single base substitution C T intron_variant SKCA-BR 5 145433254 145433254 single base substitution C T upstream_gene_variant SKCA-BR 5 145435327 145435327 single base substitution C T intron_variant SKCA-BR 5 145435327 145435327 single base substitution C T upstream_gene_variant SKCA-BR 5 145435395 145435395 single base substitution C T exon_variant SKCA-BR 5 145435395 145435395 single base substitution C T intron_variant SKCA-BR 5 145436186 145436186 single base substitution G A intron_variant SKCA-BR 5 145437521 145437537 deletion of <=200bp CTCTCTCTCTCTATCTA - intron_variant SKCA-BR 5 145438366 145438366 single base substitution G A intron_variant SKCA-BR 5 145438589 145438589 single base substitution G A intron_variant SKCA-BR 5 145439058 145439058 single base substitution C T intron_variant SKCA-BR 5 145439535 145439535 single base substitution C T exon_variant SKCA-BR 5 145439535 145439535 single base substitution C T intron_variant SKCA-BR 5 145439535 145439535 single base substitution C T synonymous_variant Y554Y 1662C>T SKCA-BR 5 145439658 145439658 single base substitution C T exon_variant SKCA-BR 5 145439658 145439658 single base substitution C T intron_variant SKCA-BR 5 145439658 145439658 single base substitution C T synonymous_variant S595S 1785C>T SKCA-BR 5 145440901 145440901 single base substitution C T downstream_gene_variant SKCA-BR 5 145440901 145440901 single base substitution C T intron_variant SKCA-BR 5 145441494 145441494 single base substitution A T downstream_gene_variant SKCA-BR 5 145441494 145441494 single base substitution A T intron_variant SKCA-BR 5 145442387 145442387 single base substitution C T 3_prime_UTR_variant SKCA-BR 5 145442387 145442387 single base substitution C T downstream_gene_variant SKCA-BR 5 145442387 145442387 single base substitution C T intron_variant SKCA-BR 5 145442917 145442917 single base substitution G A downstream_gene_variant SKCA-BR 5 145442917 145442917 single base substitution G A intron_variant SKCA-BR 5 145443782 145443782 single base substitution G A downstream_gene_variant SKCA-BR 5 145443782 145443782 single base substitution G A intron_variant SKCA-BR 5 145443956 145443956 single base substitution G A downstream_gene_variant SKCA-BR 5 145443956 145443956 single base substitution G A intron_variant SKCA-BR 5 145444229 145444229 single base substitution G A downstream_gene_variant SKCA-BR 5 145444229 145444229 single base substitution G A intron_variant SKCA-BR 5 145444425 145444427 deletion of <=200bp AAG - downstream_gene_variant SKCA-BR 5 145444425 145444427 deletion of <=200bp AAG - intron_variant SKCA-BR 5 145445088 145445088 single base substitution G A downstream_gene_variant SKCA-BR 5 145445088 145445088 single base substitution G A intron_variant SKCA-BR 5 145445464 145445464 single base substitution C T downstream_gene_variant SKCA-BR 5 145445464 145445464 single base substitution C T intron_variant SKCA-BR 5 145445684 145445684 single base substitution A T downstream_gene_variant SKCA-BR 5 145445684 145445684 single base substitution A T intron_variant SKCA-BR 5 145446836 145446836 single base substitution C T downstream_gene_variant SKCA-BR 5 145446836 145446836 single base substitution C T intron_variant SKCA-BR 5 145447635 145447635 single base substitution C T downstream_gene_variant SKCA-BR 5 145447635 145447635 single base substitution C T intron_variant SKCA-BR 5 145447966 145447966 single base substitution C T intron_variant SKCA-BR 5 145448444 145448444 single base substitution G A intron_variant SKCA-BR 5 145448450 145448450 single base substitution T A intron_variant SKCA-BR 5 145448465 145448465 single base substitution A C intron_variant SKCA-BR 5 145449415 145449415 single base substitution G A intron_variant SKCA-BR 5 145449901 145449901 single base substitution G A intron_variant SKCA-BR 5 145451282 145451282 single base substitution T C intron_variant SKCA-BR 5 145451297 145451297 single base substitution C T intron_variant SKCA-BR 5 145451731 145451731 single base substitution A G intron_variant SKCA-BR 5 145451809 145451809 single base substitution A G intron_variant SKCA-BR 5 145452491 145452491 single base substitution G A intron_variant SKCA-BR 5 145454728 145454728 single base substitution C G intron_variant SKCA-BR 5 145456093 145456093 single base substitution C T intron_variant SKCA-BR 5 145458450 145458450 single base substitution G A 3_prime_UTR_variant SKCA-BR 5 145459454 145459454 single base substitution C T 3_prime_UTR_variant SKCA-BR 5 145460057 145460057 single base substitution C A 3_prime_UTR_variant SKCA-BR 5 145462225 145462225 single base substitution G T downstream_gene_variant SKCA-BR 5 145463595 145463595 single base substitution T C downstream_gene_variant SKCA-BR 5 145463842 145463842 single base substitution G A downstream_gene_variant SKCM-US 5 145317495 145317495 single base substitution G A downstream_gene_variant SKCM-US 5 145317495 145317495 single base substitution G A missense_variant D2N 4G>A SKCM-US 5 145317513 145317513 single base substitution G A downstream_gene_variant SKCM-US 5 145317513 145317513 single base substitution G A missense_variant D8N 22G>A SKCM-US 5 145317757 145317757 single base substitution G A downstream_gene_variant SKCM-US 5 145317757 145317757 single base substitution G A missense_variant R89H 266G>A SKCM-US 5 145317863 145317863 single base substitution G A downstream_gene_variant SKCM-US 5 145317863 145317863 single base substitution G A missense_variant M124I 372G>A SKCM-US 5 145379676 145379676 single base substitution G A missense_variant R145K 434G>A SKCM-US 5 145379706 145379706 single base substitution G A missense_variant R155Q 464G>A SKCM-US 5 145379709 145379709 single base substitution G A missense_variant R156K 467G>A SKCM-US 5 145379722 145379722 single base substitution G A synonymous_variant E160E 480G>A SKCM-US 5 145379738 145379738 single base substitution G A missense_variant E166K 496G>A SKCM-US 5 145379788 145379788 single base substitution C T synonymous_variant I182I 546C>T SKCM-US 5 145379844 145379844 single base substitution G A missense_variant R201Q 602G>A SKCM-US 5 145383698 145383698 single base substitution C T synonymous_variant F242F 726C>T SKCM-US 5 145393331 145393331 single base substitution C T missense_variant L256F 766C>T SKCM-US 5 145393349 145393349 single base substitution G A missense_variant G262S 784G>A SKCM-US 5 145393427 145393427 single base substitution G A missense_variant G288S 862G>A SKCM-US 5 145393464 145393464 single base substitution C T missense_variant S300F 899C>T SKCM-US 5 145393468 145393468 single base substitution C T synonymous_variant I301I 903C>T SKCM-US 5 145393487 145393487 single base substitution C T missense_variant L308F 922C>T SKCM-US 5 145393495 145393495 single base substitution G A synonymous_variant R310R 930G>A SKCM-US 5 145393508 145393508 single base substitution C T missense_variant P315S 943C>T SKCM-US 5 145393509 145393509 single base substitution C T missense_variant P315L 944C>T SKCM-US 5 145393542 145393542 single base substitution C T missense_variant P326L 977C>T SKCM-US 5 145393604 145393604 single base substitution C T missense_variant P347S 1039C>T SKCM-US 5 145393605 145393605 single base substitution C T missense_variant P347L 1040C>T SKCM-US 5 145393608 145393608 single base substitution C T missense_variant S348F 1043C>T SKCM-US 5 145427372 145427372 single base substitution A C exon_variant SKCM-US 5 145427372 145427372 single base substitution A C missense_variant H366P 1097A>C SKCM-US 5 145427372 145427372 single base substitution A C upstream_gene_variant SKCM-US 5 145427402 145427402 single base substitution C T exon_variant SKCM-US 5 145427402 145427402 single base substitution C T missense_variant S376F 1127C>T SKCM-US 5 145427402 145427402 single base substitution C T upstream_gene_variant SKCM-US 5 145427421 145427421 single base substitution G A exon_variant SKCM-US 5 145427421 145427421 single base substitution G A synonymous_variant A382A 1146G>A SKCM-US 5 145427421 145427421 single base substitution G A upstream_gene_variant SKCM-US 5 145435568 145435568 single base substitution C T exon_variant SKCM-US 5 145435568 145435568 single base substitution C T synonymous_variant S449S 1347C>T SKCM-US 5 145435603 145435603 single base substitution C T exon_variant SKCM-US 5 145435603 145435603 single base substitution C T missense_variant S461F 1382C>T SKCM-US 5 145435641 145435641 single base substitution G A exon_variant SKCM-US 5 145435641 145435641 single base substitution G A missense_variant G474S 1420G>A SKCM-US 5 145435663 145435663 single base substitution C T exon_variant SKCM-US 5 145435663 145435663 single base substitution C T missense_variant P481L 1442C>T SKCM-US 5 145435702 145435702 single base substitution C T exon_variant SKCM-US 5 145435702 145435702 single base substitution C T missense_variant P494L 1481C>T SKCM-US 5 145435759 145435759 single base substitution G A exon_variant SKCM-US 5 145435759 145435759 single base substitution G A missense_variant R513Q 1538G>A SKCM-US 5 145439446 145439446 single base substitution C T exon_variant SKCM-US 5 145439446 145439446 single base substitution C T intron_variant SKCM-US 5 145439446 145439446 single base substitution C T missense_variant P525S 1573C>T SKCM-US 5 145439483 145439483 single base substitution C T exon_variant SKCM-US 5 145439483 145439483 single base substitution C T intron_variant SKCM-US 5 145439483 145439483 single base substitution C T missense_variant S537F 1610C>T SKCM-US 5 145439502 145439502 single base substitution C T exon_variant SKCM-US 5 145439502 145439502 single base substitution C T intron_variant SKCM-US 5 145439502 145439502 single base substitution C T synonymous_variant T543T 1629C>T SKCM-US 5 145439538 145439538 single base substitution G A exon_variant SKCM-US 5 145439538 145439538 single base substitution G A intron_variant SKCM-US 5 145439538 145439538 single base substitution G A synonymous_variant Q555Q 1665G>A SKCM-US 5 145439545 145439545 single base substitution G A exon_variant SKCM-US 5 145439545 145439545 single base substitution G A intron_variant SKCM-US 5 145439545 145439545 single base substitution G A missense_variant G558R 1672G>A SKCM-US 5 145439567 145439567 single base substitution C T exon_variant SKCM-US 5 145439567 145439567 single base substitution C T intron_variant SKCM-US 5 145439567 145439567 single base substitution C T missense_variant A565V 1694C>T SKCM-US 5 145439612 145439612 single base substitution C T exon_variant SKCM-US 5 145439612 145439612 single base substitution C T intron_variant SKCM-US 5 145439612 145439612 single base substitution C T missense_variant P580L 1739C>T SKCM-US 5 145439619 145439619 single base substitution C T exon_variant SKCM-US 5 145439619 145439619 single base substitution C T intron_variant SKCM-US 5 145439619 145439619 single base substitution C T synonymous_variant L582L 1746C>T SKCM-US 5 145439658 145439658 single base substitution C T exon_variant SKCM-US 5 145439658 145439658 single base substitution C T intron_variant SKCM-US 5 145439658 145439658 single base substitution C T synonymous_variant S595S 1785C>T SKCM-US 5 145439717 145439717 single base substitution C A downstream_gene_variant SKCM-US 5 145439717 145439717 single base substitution C A exon_variant SKCM-US 5 145439717 145439717 single base substitution C A intron_variant SKCM-US 5 145439717 145439717 single base substitution C A missense_variant P615Q 1844C>A SKCM-US 5 145439748 145439748 single base substitution C T downstream_gene_variant SKCM-US 5 145439748 145439748 single base substitution C T exon_variant SKCM-US 5 145439748 145439748 single base substitution C T intron_variant SKCM-US 5 145439748 145439748 single base substitution C T synonymous_variant I625I 1875C>T SKCM-US 5 145439781 145439781 single base substitution C T downstream_gene_variant SKCM-US 5 145439781 145439781 single base substitution C T exon_variant SKCM-US 5 145439781 145439781 single base substitution C T intron_variant SKCM-US 5 145439781 145439781 single base substitution C T synonymous_variant I636I 1908C>T SKCM-US 5 145442021 145442021 single base substitution C T downstream_gene_variant SKCM-US 5 145442021 145442021 single base substitution C T exon_variant SKCM-US 5 145442021 145442021 single base substitution C T synonymous_variant S649S 1947C>T SKCM-US 5 145442052 145442052 single base substitution C T downstream_gene_variant SKCM-US 5 145442052 145442052 single base substitution C T exon_variant SKCM-US 5 145442052 145442052 single base substitution C T missense_variant P660S 1978C>T SKCM-US 5 145442053 145442053 single base substitution C T downstream_gene_variant SKCM-US 5 145442053 145442053 single base substitution C T exon_variant SKCM-US 5 145442053 145442053 single base substitution C T missense_variant P660L 1979C>T SKCM-US 5 145442097 145442097 single base substitution C T downstream_gene_variant SKCM-US 5 145442097 145442097 single base substitution C T exon_variant SKCM-US 5 145442097 145442097 single base substitution C T stop_gained Q675* 2023C>T SKCM-US 5 145442103 145442103 single base substitution G A downstream_gene_variant SKCM-US 5 145442103 145442103 single base substitution G A exon_variant SKCM-US 5 145442103 145442103 single base substitution G A missense_variant E677K 2029G>A SKCM-US 5 145442113 145442113 single base substitution C T downstream_gene_variant SKCM-US 5 145442113 145442113 single base substitution C T exon_variant SKCM-US 5 145442113 145442113 single base substitution C T missense_variant S680F 2039C>T SKCM-US 5 145442197 145442197 single base substitution C T downstream_gene_variant SKCM-US 5 145442197 145442197 single base substitution C T exon_variant SKCM-US 5 145442197 145442197 single base substitution C T missense_variant A708V 2123C>T SKCM-US 5 145442215 145442215 single base substitution C T downstream_gene_variant SKCM-US 5 145442215 145442215 single base substitution C T exon_variant SKCM-US 5 145442215 145442215 single base substitution C T missense_variant T714I 2141C>T SKCM-US 5 145464078 145464078 single base substitution G A downstream_gene_variant SKCM-US 5 145464086 145464086 single base substitution G A downstream_gene_variant STAD-US 5 145317619 145317619 single base substitution C T downstream_gene_variant STAD-US 5 145317619 145317619 single base substitution C T missense_variant A43V 128C>T STAD-US 5 145317822 145317822 single base substitution G A downstream_gene_variant STAD-US 5 145317822 145317822 single base substitution G A missense_variant A111T 331G>A STAD-US 5 145393517 145393517 single base substitution C T missense_variant R318C 952C>T STAD-US 5 145435659 145435659 single base substitution C T exon_variant STAD-US 5 145435659 145435659 single base substitution C T missense_variant R480C 1438C>T STAD-US 5 145439558 145439558 deletion of <=200bp C - exon_variant STAD-US 5 145439558 145439558 deletion of <=200bp C - frameshift_variant S562 STAD-US 5 145439558 145439558 deletion of <=200bp C - intron_variant STAD-US 5 145439568 145439568 single base substitution C T exon_variant STAD-US 5 145439568 145439568 single base substitution C T intron_variant STAD-US 5 145439568 145439568 single base substitution C T synonymous_variant A565A 1695C>T STAD-US 5 145439617 145439617 single base substitution C A exon_variant STAD-US 5 145439617 145439617 single base substitution C A intron_variant STAD-US 5 145439617 145439617 single base substitution C A missense_variant L582I 1744C>A STAD-US 5 145439648 145439648 single base substitution G A exon_variant STAD-US 5 145439648 145439648 single base substitution G A intron_variant STAD-US 5 145439648 145439648 single base substitution G A stop_gained W592* 1775G>A STAD-US 5 145439671 145439671 single base substitution C T exon_variant STAD-US 5 145439671 145439671 single base substitution C T intron_variant STAD-US 5 145439671 145439671 single base substitution C T missense_variant L600F 1798C>T STAD-US 5 145442093 145442093 single base substitution G A downstream_gene_variant STAD-US 5 145442093 145442093 single base substitution G A exon_variant STAD-US 5 145442093 145442093 single base substitution G A synonymous_variant A673A 2019G>A STAD-US 5 145442254 145442254 single base substitution C A downstream_gene_variant STAD-US 5 145442254 145442254 single base substitution C A exon_variant STAD-US 5 145442254 145442254 single base substitution C A missense_variant P727H 2180C>A STAD-US 5 145465117 145465117 single base substitution G A downstream_gene_variant UCEC-US 5 145317633 145317633 single base substitution C T downstream_gene_variant UCEC-US 5 145317633 145317633 single base substitution C T missense_variant R48W 142C>T UCEC-US 5 145317746 145317746 single base substitution G A downstream_gene_variant UCEC-US 5 145317746 145317746 single base substitution G A synonymous_variant G85G 255G>A UCEC-US 5 145393506 145393506 single base substitution C A missense_variant S314Y 941C>A UCEC-US 5 145428704 145428704 single base substitution C T exon_variant UCEC-US 5 145428704 145428704 single base substitution C T synonymous_variant G406G 1218C>T UCEC-US 5 145428704 145428704 single base substitution C T upstream_gene_variant UCEC-US 5 145439659 145439659 single base substitution G A exon_variant UCEC-US 5 145439659 145439659 single base substitution G A intron_variant UCEC-US 5 145439659 145439659 single base substitution G A missense_variant A596T 1786G>A UCEC-US 5 145439722 145439722 single base substitution C T downstream_gene_variant UCEC-US 5 145439722 145439722 single base substitution C T exon_variant UCEC-US 5 145439722 145439722 single base substitution C T intron_variant UCEC-US 5 145439722 145439722 single base substitution C T missense_variant P617S 1849C>T UCEC-US 5 145439781 145439781 single base substitution C T downstream_gene_variant UCEC-US 5 145439781 145439781 single base substitution C T exon_variant UCEC-US 5 145439781 145439781 single base substitution C T intron_variant UCEC-US 5 145439781 145439781 single base substitution C T synonymous_variant I636I 1908C>T UCEC-US 5 145442060 145442060 single base substitution C T downstream_gene_variant UCEC-US 5 145442060 145442060 single base substitution C T exon_variant UCEC-US 5 145442060 145442060 single base substitution C T synonymous_variant S662S 1986C>T UCEC-US 5 145464036 145464036 single base substitution C A downstream_gene_variant UCEC-US 5 145465116 145465116 single base substitution C T downstream_gene_variant UCEC-US 5 145465160 145465160 single base substitution C T downstream_gene_variant

Mutation - COSMIC Sample Name Mutation ID Mutation CDS Mutation AA Mutation Description Mutation Genome Position Mutation Strand PT27 COSM5905644 c.1663C>T p.Q555* Substitution - Nonsense 5:146059973-146059973 + TCGA-19-5947-01 COSM1434871 c.1696G>A p.V566M Substitution - Missense 5:146060006-146060006 + TCGA-CM-4743-01 COSM1434871 c.1696G>A p.V566M Substitution - Missense 5:146060006-146060006 + TCGA-EE-A2MT-06 COSM3611967 c.1481C>T p.P494L Substitution - Missense 5:146056139-146056139 + TCGA-EB-A5UM-01 COSM3919242 c.496G>A p.E166K Substitution - Missense 5:146000175-146000175 + LIM1215 COSM4345396 c.995G>A p.S332N Substitution - Missense 5:146013997-146013997 + PDA_074 COSM4003367 c.2059G>A p.V687I Substitution - Missense 5:146062570-146062570 + TCGA-FW-A3R5-06 COSM3919246 c.1420G>A p.G474S Substitution - Missense 5:146056078-146056078 + Pat_45_A COSM5867724 c.1576C>T p.L526F Substitution - Missense 5:146059886-146059886 + ESO-0133 COSM1265504 c.1785C>T p.S595S Substitution - coding silent 5:146060095-146060095 + C086 COSM5538880 c.1816G>A p.E606K Substitution - Missense 5:146060126-146060126 + SF539 COSM137896 c.563C>T p.P188L Substitution - Missense 5:146000242-146000242 + TCGA-12-0618-01 COSM221232 c.952C>T p.R318C Substitution - Missense 5:146013954-146013954 + LUAD-NYU201 COSM371446 c.751C>A p.L251I Substitution - Missense 5:146013753-146013753 + TCGA-A8-A0A6-01 COSM3827315 c.1012A>C p.T338P Substitution - Missense 5:146014014-146014014 + TCGA-EB-A41A-01 COSM3611950 c.467G>A p.R156K Substitution - Missense 5:146000146-146000146 + TCGA-EB-A431-01 COSM3611962 c.1039C>T p.P347S Substitution - Missense 5:146014041-146014041 + Pat_24_A COSM5867723 c.1451C>T p.S484F Substitution - Missense 5:146056109-146056109 + TCGA-FW-A3R5-06 COSM3919247 c.1746C>T p.L582L Substitution - coding silent 5:146060056-146060056 + TCGA-B5-A11E-01 COSM1063744 c.255G>A p.G85G Substitution - coding silent 5:145938183-145938183 + TCGA-27-1838-01 COSM3409965 c.968T>G p.I323S Substitution - Missense 5:146013970-146013970 + TCGA-BR-A4QL-01 COSM3852403 c.2019G>A p.A673A Substitution - coding silent 5:146062530-146062530 + TCGA-EE-A29L-06 COSM3611960 c.943C>T p.P315S Substitution - Missense 5:146013945-146013945 + TCGA-BF-A1PZ-01 COSM4399136 c.1844C>A p.P615Q Substitution - Missense 5:146060154-146060154 + TCGA-EE-A29Q-06 COSM1434864 c.464G>A p.R155Q Substitution - Missense 5:146000143-146000143 + TCGA-AZ-4315-01 COSM1434865 c.935T>C p.V312A Substitution - Missense 5:146013937-146013937 + TCGA-EE-A3AA-06 COSM3611955 c.862G>A p.G288S Substitution - Missense 5:146013864-146013864 + 2492722 COSM3210023 c.652G>A p.D218N Substitution - Missense 5:146004061-146004061 + LS411 COSM1063747 c.1786G>A p.A596T Substitution - Missense 5:146060096-146060096 + 2492721 COSM3611947 c.4G>A p.D2N Substitution - Missense 5:145937932-145937932 + Pat_70_A COSM5597577 c.941C>T p.S314F Substitution - Missense 5:146013943-146013943 + TCGA-D3-A5GO-06 COSM3611970 c.1665G>A p.Q555Q Substitution - coding silent 5:146059975-146059975 + 2013375 COSM1684919 c.1529G>A p.R510Q Substitution - Missense 5:146056187-146056187 + TCGA-D3-A51E-06 COSM3611954 c.784G>A p.G262S Substitution - Missense 5:146013786-146013786 + PD4934a COSM164314 c.590A>G p.N197S Substitution - Missense 5:146000269-146000269 + PTC-7C COSM4159599 c.1268T>G p.L423W Substitution - Missense 5:146049191-146049191 + ESCC-178T COSM3941163 c.1844C>T p.P615L Substitution - Missense 5:146060154-146060154 + TCGA-EE-A3AF-06 COSM3611949 c.434G>A p.R145K Substitution - Missense 5:146000113-146000113 + TCGA-AX-A0J1-01 COSM1063746 c.1218C>T p.G406G Substitution - coding silent 5:146049141-146049141 + TCGA-DG-A2KK-01 COSM4828272 c.1516C>A p.Q506K Substitution - Missense 5:146056174-146056174 + TCGA-FW-A3R5-06 COSM3919245 c.1146G>A p.A382A Substitution - coding silent 5:146047858-146047858 + YUDIVI COSM5402591 c.1763G>A p.G588D Substitution - Missense 5:146060073-146060073 + I2L-P9-Tumor-Biopsy COSM4856587 c.1306G>A p.V436I Substitution - Missense 5:146049229-146049229 + TCGA-EE-A2MJ-06 COSM3611962 c.1039C>T p.P347S Substitution - Missense 5:146014041-146014041 + TCGA-B7-5816-01 COSM3852398 c.331G>A p.A111T Substitution - Missense 5:145938259-145938259 + TCGA-EE-A2MI-06 COSM3611969 c.1629C>T p.T543T Substitution - coding silent 5:146059939-146059939 + PT50 COSM5937206 c.830C>T p.S277F Substitution - Missense 5:146013832-146013832 + TCGA-CC-5261-01 COSM1179521 c.1035C>T p.D345D Substitution - coding silent 5:146014037-146014037 + YUQUEST COSM3919242 c.496G>A p.E166K Substitution - Missense 5:146000175-146000175 + T3064 COSM4725699 c.2040C>A p.S680S Substitution - coding silent 5:146062551-146062551 + HCC1954 COSM250162 c.1944C>T p.Y648Y Substitution - coding silent 5:146062455-146062455 + ESCC_31 COSM5627923 c.385C>T p.R129* Substitution - Nonsense 5:146000064-146000064 + 1_PRE-TREATMENT COSM1720408 c.1225G>A p.V409I Substitution - Missense 5:146049148-146049148 + HOP-62 COSM1672005 c.7G>T p.D3Y Substitution - Missense 5:145937935-145937935 + TCGA-D3-A3ML-06 COSM3611974 c.1947C>T p.S649S Substitution - coding silent 5:146062458-146062458 + 2492722 COSM5720454 c.831C>T p.S277S Substitution - coding silent 5:146013833-146013833 + TCGA-EE-A3AE-06 COSM3611978 c.2029G>A p.E677K Substitution - Missense 5:146062540-146062540 + TCGA-22-4601-01 COSM736518 c.694G>A p.E232K Substitution - Missense 5:146004103-146004103 + CRC-19T COSM5481951 c.2119T>C p.S707P Substitution - Missense 5:146062630-146062630 + Au1 COSM5597577 c.941C>T p.S314F Substitution - Missense 5:146013943-146013943 + LS180 COSM3210055 c.1628C>A p.T543N Substitution - Missense 5:146059938-146059938 + 2492723 COSM5720454 c.831C>T p.S277S Substitution - coding silent 5:146013833-146013833 + 2492720 COSM5720454 c.831C>T p.S277S Substitution - coding silent 5:146013833-146013833 + TCGA-D3-A3ML-06 COSM736515 c.1538G>A p.R513Q Substitution - Missense 5:146056196-146056196 + TCGA-EE-A2GC-06 COSM3611953 c.726C>T p.F242F Substitution - coding silent 5:146004135-146004135 + B64-Tumor COSM1754093 c.1415C>T p.S472L Substitution - Missense 5:146056073-146056073 + TCGA-EE-A2MF-06 COSM4892926 c.1097A>C p.H366P Substitution - Missense 5:146047809-146047809 + TCGA-AX-A05Z-01 COSM1063745 c.941C>A p.S314Y Substitution - Missense 5:146013943-146013943 + T2269 COSM1063750 c.1908C>T p.I636I Substitution - coding silent 5:146060218-146060218 + 322-01-1TD COSM145927 c.601C>T p.R201* Substitution - Nonsense 5:146000280-146000280 + TCGA-GN-A269-01 COSM3611973 c.1739C>T p.P580L Substitution - Missense 5:146060049-146060049 + 2521262 COSM3919248 c.2039C>T p.S680F Substitution - Missense 5:146062550-146062550 + ESCC-201T COSM3941162 c.1741G>A p.A581T Substitution - Missense 5:146060051-146060051 + TCGA-D7-8575-01 COSM3210043 c.1438C>T p.R480C Substitution - Missense 5:146056096-146056096 + TCGA-BP-4176-01 COSM3365899 c.1266C>T p.S422S Substitution - coding silent 5:146049189-146049189 + pfg008T COSM1642647 c.323G>A p.R108H Substitution - Missense 5:145938251-145938251 + CSCC-44-T COSM4567884 c.1914_1914+1GG>AA p.? Unknown 5:146060224-146060225 + TCGA-B5-A0JZ-01 COSM1063747 c.1786G>A p.A596T Substitution - Missense 5:146060096-146060096 + D01 COSM5544221 c.159G>A p.R53R Substitution - coding silent 5:145938087-145938087 + TCGA-19-5947 COSM1434871 c.1696G>A p.V566M Substitution - Missense 5:146060006-146060006 + I2L-P19Ta-Tumor-Organoid COSM5356570 c.80C>A p.P27H Substitution - Missense 5:145938008-145938008 + HCA7 COSM3852403 c.2019G>A p.A673A Substitution - coding silent 5:146062530-146062530 + TCGA-GN-A266-06 COSM3611979 c.2123C>T p.A708V Substitution - Missense 5:146062634-146062634 + TCGA-BF-A3DL-01 COSM1063750 c.1908C>T p.I636I Substitution - coding silent 5:146060218-146060218 + 2492710 COSM3611960 c.943C>T p.P315S Substitution - Missense 5:146013945-146013945 + Pat_24_A COSM5867722 c.1280G>A p.R427Q Substitution - Missense 5:146049203-146049203 + YUKAT COSM5402588 c.204G>A p.L68L Substitution - coding silent 5:145938132-145938132 + TCGA-EE-A3AA-06 COSM3611977 c.2023C>T p.Q675* Substitution - Nonsense 5:146062534-146062534 + SNUH_G45_S1 COSM4003367 c.2059G>A p.V687I Substitution - Missense 5:146062570-146062570 + CSCC-49-T COSM4499131 c.534C>T p.S178S Substitution - coding silent 5:146000213-146000213 + TCGA-D3-A5GO-06 COSM3611948 c.372G>A p.M124I Substitution - Missense 5:145938300-145938300 + TCGA-EB-A5UN-06 COSM3611957 c.903C>T p.I301I Substitution - coding silent 5:146013905-146013905 + YULOCUS COSM3919242 c.496G>A p.E166K Substitution - Missense 5:146000175-146000175 + TCGA-D7-A4YT-01 COSM3852399 c.1695C>T p.A565A Substitution - coding silent 5:146060005-146060005 + HCC2998 COSM3210059 c.1851G>A p.P617P Substitution - coding silent 5:146060161-146060161 + S02256 COSM5681326 c.974C>A p.T325N Substitution - Missense 5:146013976-146013976 + TCGA-32-2638-01 COSM221232 c.952C>T p.R318C Substitution - Missense 5:146013954-146013954 + 46M COSM3611959 c.930G>A p.R310R Substitution - coding silent 5:146013932-146013932 + ESCC-207T COSM3941164 c.2091C>T p.S697S Substitution - coding silent 5:146062602-146062602 + TCGA-EE-A2MC-06 COSM1265504 c.1785C>T p.S595S Substitution - coding silent 5:146060095-146060095 + TCGA-RP-A695-06 COSM4896980 c.1573C>T p.P525S Substitution - Missense 5:146059883-146059883 + 2492722 COSM3611947 c.4G>A p.D2N Substitution - Missense 5:145937932-145937932 + TCGA-EB-A5SG-06 COSM3919240 c.22G>A p.D8N Substitution - Missense 5:145937950-145937950 + TCGA-18-3409-01 COSM736519 c.689G>A p.W230* Substitution - Nonsense 5:146004098-146004098 + YUKSI COSM1685990 c.944C>T p.P315L Substitution - Missense 5:146013946-146013946 + 3_PRE-TREATMENT COSM1723712 c.1211G>A p.G404E Substitution - Missense 5:146049134-146049134 + 587342 COSM1225586 c.512G>A p.S171N Substitution - Missense 5:146000191-146000191 + 2492709 COSM3611960 c.943C>T p.P315S Substitution - Missense 5:146013945-146013945 + TCGA-EE-A20C-06 COSM3611959 c.930G>A p.R310R Substitution - coding silent 5:146013932-146013932 + TCGA-EE-A3AA-06 COSM3611976 c.1979C>T p.P660L Substitution - Missense 5:146062490-146062490 + TCGA-EE-A29G-06 COSM3611956 c.899C>T p.S300F Substitution - Missense 5:146013901-146013901 + CSCC-62-T COSM4516593 c.2073_2074CC>AT p.H691_R692>Q* Complex - compound substitution 5:146062584-146062585 + PT33 COSM5908571 c.824C>T p.S275F Substitution - Missense 5:146013826-146013826 + PD22364a COSM3941164 c.2091C>T p.S697S Substitution - coding silent 5:146062602-146062602 + D28 COSM5545781 c.727C>T p.P243S Substitution - Missense 5:146004136-146004136 + TCGA-FW-A3R5-06 COSM3919244 c.1127C>T p.S376F Substitution - Missense 5:146047839-146047839 + TCGA-19-4068-01 COSM3409968 c.1431G>A p.R477R Substitution - coding silent 5:146056089-146056089 + TCGA-FW-A3R5-06 COSM3919248 c.2039C>T p.S680F Substitution - Missense 5:146062550-146062550 + PDA_074 COSM4159598 c.799C>T p.R267C Substitution - Missense 5:146013801-146013801 + B64 COSM1754093 c.1415C>T p.S472L Substitution - Missense 5:146056073-146056073 + PTC-7C COSM4159598 c.799C>T p.R267C Substitution - Missense 5:146013801-146013801 + 577-01-4TD COSM5418140 c.1376C>T p.T459M Substitution - Missense 5:146056034-146056034 + TCGA-D3-A2JF-06 COSM3611958 c.922C>T p.L308F Substitution - Missense 5:146013924-146013924 + SWE-4A COSM1179521 c.1035C>T p.D345D Substitution - coding silent 5:146014037-146014037 + TCGA-ER-A19C-06 COSM3611951 c.546C>T p.I182I Substitution - coding silent 5:146000225-146000225 + TCGA-FW-A3R5-06 COSM3919243 c.766C>T p.L256F Substitution - Missense 5:146013768-146013768 + TCGA-D5-6926-01 COSM1434873 c.2037G>A p.A679A Substitution - coding silent 5:146062548-146062548 + PT35 COSM5912340 c.1838C>T p.P613L Substitution - Missense 5:146060148-146060148 + BD88T COSM5505549 c.165_166delTG p.S58fs*3 Deletion - Frameshift 5:145938093-145938094 + TCGA-EE-A29H-06 COSM736515 c.1538G>A p.R513Q Substitution - Missense 5:146056196-146056196 + TCGA-FW-A3R5-06 COSM1265504 c.1785C>T p.S595S Substitution - coding silent 5:146060095-146060095 + sysucc-1370T COSM5418140 c.1376C>T p.T459M Substitution - Missense 5:146056034-146056034 + YUKAT COSM5402589 c.446G>A p.G149E Substitution - Missense 5:146000125-146000125 + TCGA-13-0912-01 COSM76410 c.1987G>A p.G663R Substitution - Missense 5:146062498-146062498 + TCGA-G4-6304-01 COSM1434864 c.464G>A p.R155Q Substitution - Missense 5:146000143-146000143 + 1_RESISTANT COSM1720408 c.1225G>A p.V409I Substitution - Missense 5:146049148-146049148 + TCGA-CD-A4MI-01 COSM3852400 c.1744C>A p.L582I Substitution - Missense 5:146060054-146060054 + DLBCL-PatientC COSM221232 c.952C>T p.R318C Substitution - Missense 5:146013954-146013954 + TCGA-EE-A2MU-06 COSM3611956 c.899C>T p.S300F Substitution - Missense 5:146013901-146013901 + Pat_70_B COSM5597577 c.941C>T p.S314F Substitution - Missense 5:146013943-146013943 + BD96T COSM5520600 c.1866_1867insA p.P623fs*44 Insertion - Frameshift 5:146060176-146060177 + 2492725 COSM109726 c.1909G>A p.E637K Substitution - Missense 5:146060219-146060219 + GC8_T COSM149958 c.194C>T p.A65V Substitution - Missense 5:145938122-145938122 + TCGA-G2-A3IE-01 COSM1310816 c.148C>T p.P50S Substitution - Missense 5:145938076-145938076 + CHC1704T COSM4804069 c.570G>A p.P190P Substitution - coding silent 5:146000249-146000249 + D28 COSM3849665 c.856C>T p.R286C Substitution - Missense 5:146013858-146013858 + PT25 COSM4003367 c.2059G>A p.V687I Substitution - Missense 5:146062570-146062570 + CN-AML-CR-57-Dx COSM5424185 c.439A>G p.N147D Substitution - Missense 5:146000118-146000118 + QC2-34-T2 COSM5654744 c.388G>C p.A130P Substitution - Missense 5:146000067-146000067 + TCGA-AP-A059-01 COSM1063751 c.1986C>T p.S662S Substitution - coding silent 5:146062497-146062497 + 23T COSM3210047 c.1480C>A p.P494T Substitution - Missense 5:146056138-146056138 + B86 COSM1754091 c.478G>A p.E160K Substitution - Missense 5:146000157-146000157 + TCGA-22-5471-01 COSM736514 c.1599C>T p.L533L Substitution - coding silent 5:146059909-146059909 + CSCC-16-T COSM3611960 c.943C>T p.P315S Substitution - Missense 5:146013945-146013945 + CSCC-41-T COSM4456701 c.1019C>T p.P340L Substitution - Missense 5:146014021-146014021 + U373 COSM3210064 c.2043delG p.G682fs*4 Deletion - Frameshift 5:146062554-146062554 + 3N37-VS-3T37 COSM4981272 c.1591C>T p.P531S Substitution - Missense 5:146059901-146059901 + TCGA-BS-A0U8-01 COSM1063743 c.192G>A p.P64P Substitution - coding silent 5:145938120-145938120 + TCGA-EE-A2MR-06 COSM3611952 c.602G>A p.R201Q Substitution - Missense 5:146000281-146000281 + sysucc-311T COSM5466327 c.595G>A p.D199N Substitution - Missense 5:146000274-146000274 + NCI-H835 COSM3210036 c.1171T>C p.Y391H Substitution - Missense 5:146049094-146049094 + TCGA-EE-A3JA-06 COSM3611975 c.1978C>T p.P660S Substitution - Missense 5:146062489-146062489 + RK260_C01 COSM4944271 c.845C>T p.T282M Substitution - Missense 5:146013847-146013847 + NCI-H727 COSM3210047 c.1480C>A p.P494T Substitution - Missense 5:146056138-146056138 + D28 COSM5545782 c.855C>T p.L285L Substitution - coding silent 5:146013857-146013857 + TCGA-EE-A3JD-06 COSM1685990 c.944C>T p.P315L Substitution - Missense 5:146013946-146013946 + TCGA-AX-A0J0-01 COSM1063750 c.1908C>T p.I636I Substitution - coding silent 5:146060218-146060218 + TCGA-DK-A3WW-01 COSM3210031 c.987C>T p.I329I Substitution - coding silent 5:146013989-146013989 + TCGA-ER-A2NB-01 COSM3210009 c.266G>A p.R89H Substitution - Missense 5:145938194-145938194 + 2492720 COSM3611947 c.4G>A p.D2N Substitution - Missense 5:145937932-145937932 + SWE-3B COSM1178369 c.879G>A p.R293R Substitution - coding silent 5:146013881-146013881 + RK119_C01 COSM3768218 c.654T>C p.D218D Substitution - coding silent 5:146004063-146004063 + TCGA-EE-A2GI-06 COSM3611971 c.1672G>A p.G558R Substitution - Missense 5:146059982-146059982 + TCGA-HU-8602-01 COSM3852401 c.1775G>A p.W592* Substitution - Nonsense 5:146060085-146060085 + Pat_76_B COSM5867721 c.648G>T p.K216N Substitution - Missense 5:146000327-146000327 + C086 COSM5538882 c.863G>A p.G288D Substitution - Missense 5:146013865-146013865 + SNB19 COSM1684039 c.2045delG p.G682fs*4 Deletion - Frameshift 5:146062556-146062556 + 322 COSM145927 c.601C>T p.R201* Substitution - Nonsense 5:146000280-146000280 + HCT15 COSM3210053 c.1601T>C p.V534A Substitution - Missense 5:146059911-146059911 + 2492708 COSM3611960 c.943C>T p.P315S Substitution - Missense 5:146013945-146013945 + TCGA-D3-A1Q6-06 COSM3611963 c.1040C>T p.P347L Substitution - Missense 5:146014042-146014042 + TCGA-32-1991-01 COSM3409966 c.1058A>T p.Q353L Substitution - Missense 5:146014060-146014060 + I2L-P9-Tumor-Organoid COSM4856587 c.1306G>A p.V436I Substitution - Missense 5:146049229-146049229 + TCGA-EE-A3AD-06 COSM3611958 c.922C>T p.L308F Substitution - Missense 5:146013924-146013924 + 10-P8045 COSM4585584 c.1100C>A p.S367Y Substitution - Missense 5:146047812-146047812 + TCGA-FW-A3R5-06 COSM3919241 c.480G>A p.E160E Substitution - coding silent 5:146000159-146000159 + TCGA-EK-A2PG-01 COSM4819586 c.585C>G p.L195L Substitution - coding silent 5:146000264-146000264 + LS174T COSM3210055 c.1628C>A p.T543N Substitution - Missense 5:146059938-146059938 + TCGA-18-3415-01 COSM736517 c.964G>A p.E322K Substitution - Missense 5:146013966-146013966 + YUHEF COSM1685990 c.944C>T p.P315L Substitution - Missense 5:146013946-146013946 + LP6005500-DNA_A01 COSM4413756 c.1895C>G p.S632* Substitution - Nonsense 5:146060205-146060205 + pfg008T COSM1642647 c.323G>A p.R108H Substitution - Missense 5:145938251-145938251 + TCGA-AP-A051-01 COSM1063748 c.1849C>T p.P617S Substitution - Missense 5:146060159-146060159 + TCGA-GN-A26C-01 COSM3611947 c.4G>A p.D2N Substitution - Missense 5:145937932-145937932 + cSCCP5 COSM137896 c.563C>T p.P188L Substitution - Missense 5:146000242-146000242 + 0007_CRUK_PC_0007_T3_DNA COSM3849665 c.856C>T p.R286C Substitution - Missense 5:146013858-146013858 + TCGA-EB-A1NK-01 COSM3210062 c.1875C>T p.I625I Substitution - coding silent 5:146060185-146060185 + SNUH_G76_S1 COSM4003367 c.2059G>A p.V687I Substitution - Missense 5:146062570-146062570 + TCGA-D3-A5GO-06 COSM3611961 c.977C>T p.P326L Substitution - Missense 5:146013979-146013979 + 2492726 COSM109726 c.1909G>A p.E637K Substitution - Missense 5:146060219-146060219 + I2L-P19Ta-Tumor-Biopsy COSM5356570 c.80C>A p.P27H Substitution - Missense 5:145938008-145938008 + TCGA-IH-A3EA-01 COSM3611972 c.1694C>T p.A565V Substitution - Missense 5:146060004-146060004 + PT19_1 COSM1685990 c.944C>T p.P315L Substitution - Missense 5:146013946-146013946 + TCGA-D5-6540-01 COSM1434869 c.1305C>T p.Y435Y Substitution - coding silent 5:146049228-146049228 + OSCC-GB_00230111 COSM3210047 c.1480C>A p.P494T Substitution - Missense 5:146056138-146056138 + 2492723 COSM3210023 c.652G>A p.D218N Substitution - Missense 5:146004061-146004061 + 61 COSM149958 c.194C>T p.A65V Substitution - Missense 5:145938122-145938122 + CRC-06T COSM5457174 c.1703T>A p.V568E Substitution - Missense 5:146060013-146060013 + C086 COSM5538881 c.1183G>A p.G395R Substitution - Missense 5:146049106-146049106 + YUTOLL COSM1685990 c.944C>T p.P315L Substitution - Missense 5:146013946-146013946 + TCGA-12-0618 COSM221232 c.952C>T p.R318C Substitution - Missense 5:146013954-146013954 + 8066473 COSM3784642 c.1162C>A p.L388M Substitution - Missense 5:146049085-146049085 + Pat_24_B COSM5867723 c.1451C>T p.S484F Substitution - Missense 5:146056109-146056109 + PDA_074 COSM4159601 c.2129G>C p.G710A Substitution - Missense 5:146062640-146062640 + 10748 COSM3728304 c.2092G>A p.G698R Substitution - Missense 5:146062603-146062603 + TCGA-BR-4361-01 COSM3852404 c.2180C>A p.P727H Substitution - Missense 5:146062691-146062691 + YUKAT COSM5402590 c.462C>T p.L154L Substitution - coding silent 5:146000141-146000141 + TCGA-EE-A2M5-06 COSM3919242 c.496G>A p.E166K Substitution - Missense 5:146000175-146000175 + 2492721 COSM3210023 c.652G>A p.D218N Substitution - Missense 5:146004061-146004061 + T25 COSM5618211 c.1265C>T p.S422F Substitution - Missense 5:146049188-146049188 + TCGA-BR-6455-01 COSM3852397 c.128C>T p.A43V Substitution - Missense 5:145938056-145938056 + TCGA-34-2596-01 COSM736513 c.1784C>T p.S595F Substitution - Missense 5:146060094-146060094 + TCGA-46-6026-01 COSM736515 c.1538G>A p.R513Q Substitution - Missense 5:146056196-146056196 + CHC1704T COSM4804069 c.570G>A p.P190P Substitution - coding silent 5:146000249-146000249 + TCGA-Q1-A73O-01 COSM3919242 c.496G>A p.E166K Substitution - Missense 5:146000175-146000175 + 9227_T COSM5039631 c.1033G>A p.D345N Substitution - Missense 5:146014035-146014035 + B86-Tumor COSM1754091 c.478G>A p.E160K Substitution - Missense 5:146000157-146000157 + AOCS-112-1-2 COSM4141531 c.797C>A p.S266Y Substitution - Missense 5:146013799-146013799 + KPOPBR-13-T COSM5963498 c.2150C>A p.S717Y Substitution - Missense 5:146062661-146062661 + 2492721 COSM5720454 c.831C>T p.S277S Substitution - coding silent 5:146013833-146013833 + 2492723 COSM3611947 c.4G>A p.D2N Substitution - Missense 5:145937932-145937932 + TCGA-HU-A4H6-01 COSM3852402 c.1798C>T p.L600F Substitution - Missense 5:146060108-146060108 + TCGA-GF-A6C9-06 COSM3611956 c.899C>T p.S300F Substitution - Missense 5:146013901-146013901 + TCGA-BR-4292-01 COSM221232 c.952C>T p.R318C Substitution - Missense 5:146013954-146013954 + PTC-7C COSM4159600 c.1774T>C p.W592R Substitution - Missense 5:146060084-146060084 + YUGAFFE COSM1696468 c.1382C>T p.S461F Substitution - Missense 5:146056040-146056040 + 40M COSM3611960 c.943C>T p.P315S Substitution - Missense 5:146013945-146013945 + TCGA-DA-A3F8-06 COSM1696468 c.1382C>T p.S461F Substitution - Missense 5:146056040-146056040 + WA24 COSM241592 c.1358G>T p.G453V Substitution - Missense 5:146056016-146056016 + 40M COSM5586562 c.706G>A p.G236R Substitution - Missense 5:146004115-146004115 + TCGA-AX-A0J1-01 COSM1063742 c.142C>T p.R48W Substitution - Missense 5:145938070-145938070 + TCGA-A5-A0GB-01 COSM1063749 c.1893C>T p.N631N Substitution - coding silent 5:146060203-146060203 + ESO-859 COSM1240179 c.1105G>A p.A369T Substitution - Missense 5:146047817-146047817 + 93T COSM109726 c.1909G>A p.E637K Substitution - Missense 5:146060219-146060219 + TCGA-FR-A3YO-06 COSM3611980 c.2141C>T p.T714I Substitution - Missense 5:146062652-146062652 + AOCS-137-3-7 COSM4141530 c.307A>G p.R103G Substitution - Missense 5:145938235-145938235 + TCGA-DU-8165-01 COSM1178369 c.879G>A p.R293R Substitution - coding silent 5:146013881-146013881 + STC232 COSM4345396 c.995G>A p.S332N Substitution - Missense 5:146013997-146013997 + TCGA-DK-A3X1-01 COSM3776395 c.1929G>T p.V643V Substitution - coding silent 5:146062440-146062440 + TCGA-EA-A3HR-01 COSM4843311 c.279G>T p.T93T Substitution - coding silent 5:145938207-145938207 + 3_RESISTANT COSM1723712 c.1211G>A p.G404E Substitution - Missense 5:146049134-146049134 + 35M COSM5582488 c.1662C>T p.Y554Y Substitution - coding silent 5:146059972-146059972 + TCGA-46-3765-01 COSM736516 c.1280G>T p.R427L Substitution - Missense 5:146049203-146049203 + T3498 COSM4725700 c.2110C>T p.R704W Substitution - Missense 5:146062621-146062621 + TCGA-C5-A7UE-01 COSM4856587 c.1306G>A p.V436I Substitution - Missense 5:146049229-146049229 + TCGA-EE-A2MN-06 COSM3611965 c.1347C>T p.S449S Substitution - coding silent 5:146056005-146056005 + S02299 COSM5690747 c.1790C>A p.A597D Substitution - Missense 5:146060100-146060100 + PTC-7C COSM4159601 c.2129G>C p.G710A Substitution - Missense 5:146062640-146062640 + 2492720 COSM3210023 c.652G>A p.D218N Substitution - Missense 5:146004061-146004061 + D38 COSM5546486 c.2050G>A p.E684K Substitution - Missense 5:146062561-146062561 + CSCC-55-T COSM4516075 c.1562_1563CC>TT p.S521F Substitution - Missense 5:146059872-146059873 + PTC-10C COSM4159598 c.799C>T p.R267C Substitution - Missense 5:146013801-146013801 + TCGA-EE-A3JI-06 COSM3611966 c.1442C>T p.P481L Substitution - Missense 5:146056100-146056100 + sysucc-274T COSM5476564 c.1430G>A p.R477Q Substitution - Missense 5:146056088-146056088 + TCGA-D3-A2JH-06 COSM3611964 c.1043C>T p.S348F Substitution - Missense 5:146014045-146014045 + 3N35-VS-3T35 COSM4981104 c.1297A>C p.N433H Substitution - Missense 5:146049220-146049220 + TCGA-32-2615-01 COSM3409967 c.1245C>T p.D415D Substitution - coding silent 5:146049168-146049168 + EGC15 COSM5060813 c.1495G>A p.A499T Substitution - Missense 5:146056153-146056153 + AOCS-137-1-X COSM4141530 c.307A>G p.R103G Substitution - Missense 5:145938235-145938235 + 2492724 COSM109726 c.1909G>A p.E637K Substitution - Missense 5:146060219-146060219 + STC246 COSM5060812 c.744+2T>C p.? Unknown 5:146004155-146004155 + YUAVEY COSM1696469 c.1548G>A p.M516I Substitution - Missense 5:146056206-146056206 + TCGA-ER-A194-01 COSM3611968 c.1610C>T p.S537F Substitution - Missense 5:146059920-146059920 +

Mutation - CGAP UNIGENE CYTOBAND OMIM SNP Hs.443728 5q32 613377

Mutation - IntOGen Mutated from(ref) Mutated to(alt) Consequence Type AA Mutation CDS Mutation Chr Pos Cancer A C Missense p.H366P c.1097A>C 5 145427372 CM A G IntronicSNV . c.379-2759A>G 5 145376862 CM A G Missense p.N197S c.590A>G 5 145379832 BRCA A T Missense p.Q353L c.1058A>T 5 145393623 GBM C A IntronicSNV . c.1059+4190C>A 5 145397814 CLL C A IntronicSNV . c.1060-12381C>A 5 145414954 PIA C A Missense p.P615Q c.1844C>A 5 145439717 CM CC TT IntronicBlockSubstitution . c.379-2082_379-2081delinsTT 5 145377539 CM CC TT Missense p.A393V c.1178_1179delinsTT 5 145428664 CM C G Synonymous p.L195L c.585C>G 5 145379827 HNSC C T 3-UTRSNV . c.2187+16251C>T 5 145458512 HC C T 5-UTRSNV . c.1-31C>T 5 145317461 CM C T IntronicSNV . c.1323-149C>T 5 145435395 CM C T IntronicSNV . c.379-2709C>T 5 145376912 CM C T Missense p.A43V c.128C>T 5 145317619 STAD C T Missense p.A565V c.1694C>T 5 145439567 CM C T Missense p.L308F c.922C>T 5 145393487 CM C T Missense p.P141S c.421C>T 5 145379663 CM C T Missense p.P188L c.563C>T 5 145379805 CM C T Missense p.P315L c.944C>T 5 145393509 CM C T Missense p.P315S c.943C>T 5 145393508 CM C T Missense p.P347L c.1040C>T 5 145393605 CM C T Missense p.P347S c.1039C>T 5 145393604 CM C T Missense p.P481L c.1442C>T 5 145435663 CM C T Missense p.P494L c.1481C>T 5 145435702 CM C T Missense p.P50S c.148C>T 5 145317639 BLCA C T Missense p.P580L c.1739C>T 5 145439612 CM C T Missense p.P660L c.1979C>T 5 145442053 CM C T Missense p.P660S c.1978C>T 5 145442052 CM C T Missense p.R318C c.952C>T 5 145393517 GBM C T Missense p.R318C c.952C>T 5 145393517 STAD C T Missense p.R510W c.1528C>T 5 145435749 CM C T Missense p.S300F c.899C>T 5 145393464 CM C T Missense p.S348F c.1043C>T 5 145393608 CM C T Missense p.S461F c.1382C>T 5 145435603 CM C T Missense p.S472L c.1415C>T 5 145435636 CM C T Missense p.S537F c.1610C>T 5 145439483 CM C T Missense p.S595F c.1784C>T 5 145439657 LUSC C T Missense p.T724I c.2171C>T 5 145442245 CM C T Nonsense p.Q675* c.2023C>T 5 145442097 CM C T Nonsense p.R201* c.601C>T 5 145379843 CLL C T Synonymous p.D415D c.1245C>T 5 145428731 GBM C T Synonymous p.F242F c.726C>T 5 145383698 CM C T Synonymous p.I170I c.510C>T 5 145379752 HNSC C T Synonymous p.I182I c.546C>T 5 145379788 CM C T Synonymous p.I625I c.1875C>T 5 145439748 CM C T Synonymous p.I636I c.1908C>T 5 145439781 CM C T Synonymous p.L576L c.1728C>T 5 145439601 HNSC C T Synonymous p.S422S c.1266C>T 5 145428752 RCCC C T Synonymous p.S449S c.1347C>T 5 145435568 CM C T Synonymous p.S537S c.1611C>T 5 145439484 CM C T Synonymous p.S595S c.1785C>T 5 145439658 CM C T Synonymous p.S595S c.1785C>T 5 145439658 ESCA C T Synonymous p.S649S c.1947C>T 5 145442021 CM C T Synonymous p.T543T c.1629C>T 5 145439502 CM G A IntronicSNV . c.379-2177G>A 5 145377444 CM G A IntronicSNV . c.379-2510G>A 5 145377111 CM G A IntronicSNV . c.379-2685G>A 5 145376936 CM G A IntronicSNV . c.379-2774G>A 5 145376847 CM G A IntronicSNV . c.379-9518G>A 5 145370103 PIA G A Missense p.A111T c.331G>A 5 145317822 STAD G A Missense p.A369T c.1105G>A 5 145427380 ESCA G A Missense p.A596T c.1786G>A 5 145439659 UCEC G A Missense p.D2N c.4G>A 5 145317495 CM G A Missense p.E166K c.496G>A 5 145379738 CM G A Missense p.E232K c.694G>A 5 145383666 LUSC G A Missense p.E248K c.742G>A 5 145383714 BRCA G A Missense p.E322K c.964G>A 5 145393529 LUSC G A Missense p.E677K c.2029G>A 5 145442103 CM G A Missense p.G288S c.862G>A 5 145393427 CM G A Missense p.G558R c.1672G>A 5 145439545 CM G A Missense p.G663R c.1987G>A 5 145442061 OV G A Missense p.R108H c.323G>A 5 145317814 STAD G A Missense p.R145K c.434G>A 5 145379676 CM G A Missense p.R155Q c.464G>A 5 145379706 CM G A Missense p.R513Q c.1538G>A 5 145435759 CM G A Missense p.R513Q c.1538G>A 5 145435759 LUSC G A Missense p.R89H c.266G>A 5 145317757 CM G A Missense p.V566M c.1696G>A 5 145439569 GBM G A Synonymous p.R293R c.879G>A 5 145393444 CM G A Synonymous p.R293R c.879G>A 5 145393444 LGG G A Synonymous p.R310R c.930G>A 5 145393495 CM G A Synonymous p.R477R c.1431G>A 5 145435652 GBM G C Missense p.W458S c.1373G>C 5 145435594 CM GG AA Missense p.G404R c.1209_1210delinsAA 5 145428695 CM GG AA Missense p.G588S c.1761_1762delinsAA 5 145439634 CM GG AT Missense p.R704H c.2111_2112delinsAT 5 145442185 CM G T Missense p.G426V c.1277G>T 5 145428763 LUAD G T Missense p.R427L c.1280G>T 5 145428766 LUSC T A Missense p.F146I c.436T>A 5 145379678 CM T A Synonymous p.P55P c.165T>A 5 145317656 ALL T C Missense p.C413R c.1237T>C 5 145428723 STAD T C Missense p.I329T c.986T>C 5 145393551 LUAD T G Missense p.I323S c.968T>G 5 145393533 GBM