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 19 3005850 3005850 + Silent SNP G G A TCGA-DK-AA6S-01A-21D-A391-08 TCGA-DK-AA6S-10A-01D-A394-08 g.chr19:3005850G>A c.1617C>T c.(1615-1617)atC>atT p.I539I BLCA 19 3009614 3009614 + Missense_Mutation SNP C C T TCGA-E7-A85H-01A-11D-A34U-08 TCGA-E7-A85H-10B-01D-A34X-08 g.chr19:3009614C>T c.1099G>A c.(1099-1101)Gtg>Atg p.V367M BLCA 19 3014582 3014582 + Silent SNP G G A TCGA-HQ-A2OF-01A-11D-A26M-08 TCGA-HQ-A2OF-10B-01D-A26K-08 g.chr19:3014582G>A c.709C>T c.(709-711)Ctg>Ttg p.L237L BLCA 19 3014596 3014597 + Frame_Shift_Del DEL TT TT - TCGA-UY-A78K-01A-11D-A339-08 TCGA-UY-A78K-10A-01D-A339-08 g.chr19:3014596_3014597delTT c.694_695delAA c.(694-696)aagfs p.K232fs BLCA 19 3017853 3017853 + Silent SNP C C T TCGA-DK-A2I4-01A-11D-A21A-08 TCGA-DK-A2I4-10A-01D-A21A-08 g.chr19:3017853C>T c.555G>A c.(553-555)gaG>gaA p.E185E BLCA 19 3019709 3019709 + Missense_Mutation SNP G G C TCGA-DK-A2I4-01A-11D-A21A-08 TCGA-DK-A2I4-10A-01D-A21A-08 g.chr19:3019709G>C c.357C>G c.(355-357)aaC>aaG p.N119K BRCA 19 2997923 2997923 + Missense_Mutation SNP C C G TCGA-AC-A23H-01A-11D-A159-09 TCGA-AC-A23H-11A-12D-A17G-09 g.chr19:2997923C>G c.2155G>C c.(2155-2157)Gac>Cac p.D719H BRCA 19 3005795 3005795 + Missense_Mutation SNP C C T TCGA-AC-A23H-01A-11D-A159-09 TCGA-AC-A23H-11A-12D-A17G-09 g.chr19:3005795C>T c.1672G>A c.(1672-1674)Gac>Aac p.D558N BRCA 19 3011063 3011063 + Silent SNP G G A TCGA-PE-A5DE-01A-11D-A27P-09 TCGA-PE-A5DE-10A-01D-A27P-09 g.chr19:3011063G>A c.969C>T c.(967-969)ctC>ctT p.L323L BRCA 19 3013795 3013796 + Frame_Shift_Ins INS - - G TCGA-BH-A0H0-01A-11W-A071-09 TCGA-BH-A0H0-10A-01W-A071-09 g.chr19:3013795_3013796insG c.744_745insC c.(742-747)cccagcfs p.S249fs BRCA 19 3028349 3028349 + Missense_Mutation SNP C C T TCGA-B6-A0X1-01A-11D-A10G-09 TCGA-B6-A0X1-10A-01D-A117-09 g.chr19:3028349C>T c.154G>A c.(154-156)Gag>Aag p.E52K CESC 19 3005538 3005538 + Missense_Mutation SNP G G A TCGA-C5-A7UH-01A-11D-A351-09 TCGA-C5-A7UH-10A-01D-A351-09 g.chr19:3005538G>A c.1793C>T c.(1792-1794)tCc>tTc p.S598F CESC 19 3015661 3015661 + Nonsense_Mutation SNP G G C TCGA-IR-A3LK-01A-12D-A20U-09 TCGA-IR-A3LK-10A-01D-A20U-09 g.chr19:3015661G>C c.668C>G c.(667-669)tCa>tGa p.S223* CESC 19 3025051 3025051 + Missense_Mutation SNP G G C TCGA-IR-A3LH-01A-21D-A20U-09 TCGA-IR-A3LH-10A-01D-A20U-09 g.chr19:3025051G>C c.261C>G c.(259-261)atC>atG p.I87M CHOL 19 3011031 3011031 + Missense_Mutation SNP G G A TCGA-W5-AA38-01A-11D-A417-09 TCGA-W5-AA38-10A-01D-A41A-09 g.chr19:3011031G>A c.1001C>T c.(1000-1002)aCg>aTg p.T334M COAD 19 2997867 2997867 + Silent SNP G G A TCGA-AA-3950-01A-02W-0995-10 TCGA-AA-3950-10A-01W-0995-10 g.chr19:2997867G>A c.2211C>T c.(2209-2211)acC>acT p.T737T COAD 19 3005507 3005508 + Frame_Shift_Ins INS - - C TCGA-AA-3858-01A-01W-0900-09 TCGA-AA-3858-10A-01W-0900-09 g.chr19:3005507_3005508insC c.1823_1824insG c.(1822-1824)ggcfs p.G608fs COAD 19 3005844 3005844 + Silent SNP G G A TCGA-AA-3663-01A-01D-1719-10 TCGA-AA-3663-11A-01D-1719-10 g.chr19:3005844G>A c.1623C>T c.(1621-1623)gcC>gcT p.A541A COAD 19 3006466 3006466 + Silent SNP G G A TCGA-CM-6162-01A-11D-1650-10 TCGA-CM-6162-10A-01D-1650-10 g.chr19:3006466G>A c.1452C>T c.(1450-1452)gaC>gaT p.D484D COAD 19 3009686 3009686 + Frame_Shift_Del DEL G G - TCGA-A6-6653-01A-11D-1771-10 TCGA-A6-6653-10A-01D-1771-10 g.chr19:3009686delG c.1027delC c.(1027-1029)ctgfs p.L343fs COAD 19 3011031 3011031 + Missense_Mutation SNP G G A TCGA-A6-6653-01A-11D-1771-10 TCGA-A6-6653-10A-01D-1771-10 g.chr19:3011031G>A c.1001C>T c.(1000-1002)aCg>aTg p.T334M COAD 19 3011085 3011085 + Missense_Mutation SNP C C T TCGA-G4-6304-01A-11D-1924-10 TCGA-G4-6304-10A-01D-1924-10 g.chr19:3011085C>T c.947G>A c.(946-948)gGg>gAg p.G316E COAD 19 3011087 3011087 + Frame_Shift_Del DEL G G - TCGA-AA-3821-01A-01W-0995-10 TCGA-AA-3821-10A-01W-0995-10 g.chr19:3011087delG c.945delC c.(943-945)cccfs p.P315fs COAD 19 3019712 3019712 + Silent SNP C C T TCGA-A6-3807-01A-01W-0995-10 TCGA-A6-3807-11A-01W-0995-10 g.chr19:3019712C>T c.354G>A c.(352-354)ctG>ctA p.L118L COADREAD 19 2997867 2997867 + Silent SNP G G A TCGA-AA-3950-01A-02W-0995-10 TCGA-AA-3950-10A-01W-0995-10 g.chr19:2997867G>A c.2211C>T c.(2209-2211)acC>acT p.T737T COADREAD 19 3005507 3005508 + Frame_Shift_Ins INS - - C TCGA-AA-3858-01A-01W-0900-09 TCGA-AA-3858-10A-01W-0900-09 g.chr19:3005507_3005508insC c.1823_1824insG c.(1822-1824)ggcfs p.G608fs COADREAD 19 3005844 3005844 + Silent SNP G G A TCGA-AA-3663-01A-01D-1719-10 TCGA-AA-3663-11A-01D-1719-10 g.chr19:3005844G>A c.1623C>T c.(1621-1623)gcC>gcT p.A541A COADREAD 19 3006466 3006466 + Silent SNP G G A TCGA-CM-6162-01A-11D-1650-10 TCGA-CM-6162-10A-01D-1650-10 g.chr19:3006466G>A c.1452C>T c.(1450-1452)gaC>gaT p.D484D COADREAD 19 3009686 3009686 + Frame_Shift_Del DEL G G - TCGA-A6-6653-01A-11D-1771-10 TCGA-A6-6653-10A-01D-1771-10 g.chr19:3009686delG c.1027delC c.(1027-1029)ctgfs p.L343fs COADREAD 19 3011031 3011031 + Missense_Mutation SNP G G A TCGA-A6-6653-01A-11D-1771-10 TCGA-A6-6653-10A-01D-1771-10 g.chr19:3011031G>A c.1001C>T c.(1000-1002)aCg>aTg p.T334M COADREAD 19 3011085 3011085 + Missense_Mutation SNP C C T TCGA-G4-6304-01A-11D-1924-10 TCGA-G4-6304-10A-01D-1924-10 g.chr19:3011085C>T c.947G>A c.(946-948)gGg>gAg p.G316E COADREAD 19 3011087 3011087 + Frame_Shift_Del DEL G G - TCGA-AA-3821-01A-01W-0995-10 TCGA-AA-3821-10A-01W-0995-10 g.chr19:3011087delG c.945delC c.(943-945)cccfs p.P315fs COADREAD 19 3019712 3019712 + Silent SNP C C T TCGA-A6-3807-01A-01W-0995-10 TCGA-A6-3807-11A-01W-0995-10 g.chr19:3019712C>T c.354G>A c.(352-354)ctG>ctA p.L118L ESCA 19 3000648 3000648 + Missense_Mutation SNP G G T TCGA-L7-A6VZ-01A-12D-A33E-09 TCGA-L7-A6VZ-10A-01D-A33H-09 g.chr19:3000648G>T c.2121C>A c.(2119-2121)ttC>ttA p.F707L ESCA 19 3005571 3005571 + Missense_Mutation SNP C C A TCGA-LN-A4A2-01A-31D-A27G-09 TCGA-LN-A4A2-10A-01D-A27G-09 g.chr19:3005571C>A c.1760G>T c.(1759-1761)gGc>gTc p.G587V ESCA 19 3006510 3006510 + Missense_Mutation SNP G G C TCGA-JY-A6FD-01A-11D-A33E-09 TCGA-JY-A6FD-10A-01D-A33H-09 g.chr19:3006510G>C c.1408C>G c.(1408-1410)Cag>Gag p.Q470E ESCA 19 3019732 3019732 + Missense_Mutation SNP G G T TCGA-L5-A8NM-01A-11D-A37C-09 TCGA-L5-A8NM-11A-12D-A37F-09 g.chr19:3019732G>T c.334C>A c.(334-336)Cag>Aag p.Q112K ESCA 19 3025060 3025060 + Silent SNP C C G TCGA-JY-A6FA-01A-11D-A33E-09 TCGA-JY-A6FA-10A-01D-A33H-09 g.chr19:3025060C>G c.252G>C c.(250-252)ctG>ctC p.L84L GBM 19 3013710 3013710 + Missense_Mutation SNP G G A TCGA-32-4211-01A-01D-1353-08 TCGA-32-4211-10A-01D-1353-08 g.chr19:3013710G>A c.830C>T c.(829-831)tCt>tTt p.S277F GBMLGG 19 3005496 3005496 + Missense_Mutation SNP G G A TCGA-DU-6392-01A-11D-1705-08 TCGA-DU-6392-10A-01D-1705-08 g.chr19:3005496G>A c.1835C>T c.(1834-1836)aCg>aTg p.T612M GBMLGG 19 3013710 3013710 + Missense_Mutation SNP G G A TCGA-32-4211-01A-01D-1353-08 TCGA-32-4211-10A-01D-1353-08 g.chr19:3013710G>A c.830C>T c.(829-831)tCt>tTt p.S277F GBMLGG 19 3013775 3013775 + Silent SNP G G A TCGA-DU-6392-01A-11D-1705-08 TCGA-DU-6392-10A-01D-1705-08 g.chr19:3013775G>A c.765C>T c.(763-765)tgC>tgT p.C255C GBMLGG 19 3028803 3028803 + Splice_Site DEL T T - TCGA-E1-A7YS-01A-11D-A34A-08 TCGA-E1-A7YS-10A-01D-A34A-08 g.chr19:3028803delT c.e2-2 HNSC 19 3002388 3002388 + Missense_Mutation SNP G G C TCGA-D6-6823-01A-11D-1912-08 TCGA-D6-6823-10A-01D-1912-08 g.chr19:3002388G>C c.2010C>G c.(2008-2010)caC>caG p.H670Q HNSC 19 3005477 3005477 + Silent SNP C C A TCGA-BA-A6D8-01A-31D-A31L-08 TCGA-BA-A6D8-10A-01D-A31J-08 g.chr19:3005477C>A c.1854G>T c.(1852-1854)ctG>ctT p.L618L HNSC 19 3009612 3009612 + Silent SNP C C A TCGA-CN-4739-01A-02D-1512-08 TCGA-CN-4739-10A-01D-1512-08 g.chr19:3009612C>A c.1101G>T c.(1099-1101)gtG>gtT p.V367V HNSC 19 3011066 3011066 + Silent SNP G G A TCGA-CV-6954-01A-11D-1912-08 TCGA-CV-6954-11A-01D-1912-08 g.chr19:3011066G>A c.966C>T c.(964-966)caC>caT p.H322H HNSC 19 3015720 3015720 + Missense_Mutation SNP C C G TCGA-CR-7402-01A-11D-2012-08 TCGA-CR-7402-10A-01D-2013-08 g.chr19:3015720C>G c.609G>C c.(607-609)gaG>gaC p.E203D HNSC 19 3028341 3028341 + Silent SNP C C A TCGA-CV-7427-01A-11D-2078-08 TCGA-CV-7427-10A-01D-2078-08 g.chr19:3028341C>A c.162G>T c.(160-162)acG>acT p.T54T KIPAN 19 3019295 3019295 + Missense_Mutation SNP G G T TCGA-5P-A9JY-01A-11D-A42J-10 TCGA-5P-A9JY-10A-01D-A42M-10 g.chr19:3019295G>T c.536C>A c.(535-537)gCc>gAc p.A179D KIRP 19 3019295 3019295 + Missense_Mutation SNP G G T TCGA-5P-A9JY-01A-11D-A42J-10 TCGA-5P-A9JY-10A-01D-A42M-10 g.chr19:3019295G>T c.536C>A c.(535-537)gCc>gAc p.A179D LGG 19 3005496 3005496 + Missense_Mutation SNP G G A TCGA-DU-6392-01A-11D-1705-08 TCGA-DU-6392-10A-01D-1705-08 g.chr19:3005496G>A c.1835C>T c.(1834-1836)aCg>aTg p.T612M LGG 19 3013775 3013775 + Silent SNP G G A TCGA-DU-6392-01A-11D-1705-08 TCGA-DU-6392-10A-01D-1705-08 g.chr19:3013775G>A c.765C>T c.(763-765)tgC>tgT p.C255C LGG 19 3028803 3028803 + Splice_Site DEL T T - TCGA-E1-A7YS-01A-11D-A34A-08 TCGA-E1-A7YS-10A-01D-A34A-08 g.chr19:3028803delT c.e2-2 LIHC 19 3006425 3006425 + Missense_Mutation SNP T T C TCGA-ES-A2HT-01A-12D-A183-10 TCGA-ES-A2HT-11A-11D-A183-10 g.chr19:3006425T>C c.1493A>G c.(1492-1494)gAc>gGc p.D498G LIHC 19 3006585 3006585 + Missense_Mutation SNP G G T TCGA-WQ-A9G7-01A-11D-A36X-10 TCGA-WQ-A9G7-10A-01D-A370-10 g.chr19:3006585G>T c.1333C>A c.(1333-1335)Ccg>Acg p.P445T LIHC 19 3013796 3013796 + Frame_Shift_Del DEL G G - TCGA-DD-A1EG-01A-11D-A20W-10 TCGA-DD-A1EG-10A-01D-A20W-10 g.chr19:3013796delG c.744delC c.(742-744)cccfs p.P248fs LUAD 19 3005721 3005721 + Silent SNP G G C TCGA-55-8208-01A-11D-2238-08 TCGA-55-8208-10A-01D-2238-08 g.chr19:3005721G>C c.1746C>G c.(1744-1746)gtC>gtG p.V582V LUAD 19 3005787 3005787 + Missense_Mutation SNP C C A TCGA-78-7542-01A-21D-2063-08 TCGA-78-7542-11A-01D-2063-08 g.chr19:3005787C>A c.1680G>T c.(1678-1680)aaG>aaT p.K560N LUAD 19 3009671 3009671 + Missense_Mutation SNP G G A TCGA-78-7155-01A-11D-2036-08 TCGA-78-7155-10A-01D-2036-08 g.chr19:3009671G>A c.1042C>T c.(1042-1044)Ccc>Tcc p.P348S LUAD 19 3013707 3013707 + Missense_Mutation SNP C C A TCGA-86-A456-01A-11D-A24D-08 TCGA-86-A456-10A-01D-A24F-08 g.chr19:3013707C>A c.833G>T c.(832-834)aGc>aTc p.S278I LUSC 19 3005560 3005560 + Missense_Mutation SNP C C T TCGA-39-5031-01A-01D-1441-08 TCGA-39-5031-11A-01D-1441-08 g.chr19:3005560C>T c.1771G>A c.(1771-1773)Ggc>Agc p.G591S LUSC 19 3006571 3006572 + Missense_Mutation DNP CC CC AG TCGA-60-2719-01A-01D-1522-08 TCGA-60-2719-11A-01D-1522-08 g.chr19:3006571_3006572CC>AG c.1346_1347GG>CT c.(1345-1347)cGG>cCT p.R449P LUSC 19 3028720 3028720 + Nonsense_Mutation SNP G G A TCGA-66-2778-01A-02D-1522-08 TCGA-66-2778-11A-01D-1522-08 g.chr19:3028720G>A c.106C>T c.(106-108)Cag>Tag p.Q36* PAAD 19 3002419 3002419 + Missense_Mutation SNP C C T TCGA-LB-A8F3-01A-11D-A36O-08 TCGA-LB-A8F3-10A-01D-A367-08 g.chr19:3002419C>T c.1979G>A c.(1978-1980)cGc>cAc p.R660H PAAD 19 3006594 3006594 + Missense_Mutation SNP C C T TCGA-IB-7651-01A-11D-2154-08 TCGA-IB-7651-10A-01D-2154-08 g.chr19:3006594C>T c.1324G>A c.(1324-1326)Gcg>Acg p.A442T PAAD 19 3008916 3008916 + Nonsense_Mutation SNP G G A TCGA-IB-7651-01A-11D-2154-08 TCGA-IB-7651-10A-01D-2154-08 g.chr19:3008916G>A c.1201C>T c.(1201-1203)Cga>Tga p.R401* PAAD 19 3011123 3011123 + Silent SNP G G T TCGA-IB-7651-01A-11D-2154-08 TCGA-IB-7651-10A-01D-2154-08 g.chr19:3011123G>T c.909C>A c.(907-909)tcC>tcA p.S303S PRAD 19 3006490 3006490 + Silent SNP G G A TCGA-XK-AAIW-01A-11D-A41K-08 TCGA-XK-AAIW-10A-01D-A41N-08 g.chr19:3006490G>A c.1428C>T c.(1426-1428)ggC>ggT p.G476G SARC 19 3019293 3019293 + Missense_Mutation SNP C C T TCGA-DX-A3M1-01A-11D-A228-09 TCGA-DX-A3M1-10A-01D-A22A-09 g.chr19:3019293C>T c.538G>A c.(538-540)Gag>Aag p.E180K SKCM 19 3000675 3000675 + Nonsense_Mutation SNP C C T TCGA-D3-A51G-06A-11D-A25O-08 TCGA-D3-A51G-10A-01D-A25O-08 g.chr19:3000675C>T c.2094G>A c.(2092-2094)tgG>tgA p.W698* SKCM 19 3002402 3002402 + Nonsense_Mutation SNP G G A TCGA-EE-A3AG-06A-31D-A196-08 TCGA-EE-A3AG-10A-01D-A198-08 g.chr19:3002402G>A c.1996C>T c.(1996-1998)Cag>Tag p.Q666* SKCM 19 3005473 3005473 + Missense_Mutation SNP C C T TCGA-DA-A1IA-06A-11D-A196-08 TCGA-DA-A1IA-10A-01D-A198-08 g.chr19:3005473C>T c.1858G>A c.(1858-1860)Gag>Aag p.E620K SKCM 19 3005503 3005503 + Missense_Mutation SNP C C T TCGA-EE-A20H-06A-11D-A197-08 TCGA-EE-A20H-10A-01D-A199-08 g.chr19:3005503C>T c.1828G>A c.(1828-1830)Gac>Aac p.D610N SKCM 19 3005778 3005778 + Silent SNP G G A TCGA-EE-A2GR-06A-11D-A197-08 TCGA-EE-A2GR-10A-01D-A199-08 g.chr19:3005778G>A c.1689C>T c.(1687-1689)ttC>ttT p.F563F SKCM 19 3005791 3005791 + Missense_Mutation SNP G G A TCGA-FW-A3R5-06A-11D-A23B-08 TCGA-FW-A3R5-10A-01D-A23B-08 g.chr19:3005791G>A c.1676C>T c.(1675-1677)gCc>gTc p.A559V SKCM 19 3005910 3005910 + Silent SNP G G A TCGA-EE-A2GC-06A-11D-A197-08 TCGA-EE-A2GC-10A-01D-A199-08 g.chr19:3005910G>A c.1557C>T c.(1555-1557)atC>atT p.I519I SKCM 19 3006496 3006496 + Silent SNP C C T TCGA-FW-A3R5-06A-11D-A23B-08 TCGA-FW-A3R5-10A-01D-A23B-08 g.chr19:3006496C>T c.1422G>A c.(1420-1422)acG>acA p.T474T SKCM 19 3006639 3006639 + Missense_Mutation SNP C C T TCGA-EE-A20C-06A-11D-A196-08 TCGA-EE-A20C-10A-01D-A198-08 g.chr19:3006639C>T c.1279G>A c.(1279-1281)Ggg>Agg p.G427R SKCM 19 3009539 3009539 + Splice_Site SNP C C T TCGA-EE-A3AG-06A-31D-A196-08 TCGA-EE-A3AG-10A-01D-A198-08 g.chr19:3009539C>T c.e13+1 SKCM 19 3009582 3009582 + Silent SNP G G A TCGA-GN-A267-06A-21D-A196-08 TCGA-GN-A267-10A-01D-A198-08 g.chr19:3009582G>A c.1131C>T c.(1129-1131)tcC>tcT p.S377S SKCM 19 3009615 3009615 + Silent SNP G G A TCGA-D9-A6EC-06A-11D-A30X-08 TCGA-D9-A6EC-10A-01D-A30X-08 g.chr19:3009615G>A c.1098C>T c.(1096-1098)tcC>tcT p.S366S SKCM 19 3009616 3009616 + Missense_Mutation SNP G G A TCGA-D9-A6EC-06A-11D-A30X-08 TCGA-D9-A6EC-10A-01D-A30X-08 g.chr19:3009616G>A c.1097C>T c.(1096-1098)tCc>tTc p.S366F SKCM 19 3009669 3009669 + Silent SNP G G A TCGA-GN-A266-06A-11D-A197-08 TCGA-GN-A266-10A-01D-A199-08 g.chr19:3009669G>A c.1044C>T c.(1042-1044)ccC>ccT p.P348P SKCM 19 3011090 3011090 + Silent SNP G G A TCGA-FS-A1ZT-06A-11D-A197-08 TCGA-FS-A1ZT-10A-01D-A199-08 g.chr19:3011090G>A c.942C>T c.(940-942)acC>acT p.T314T SKCM 19 3011136 3011136 + Missense_Mutation SNP G G A TCGA-EE-A2GO-06A-11D-A196-08 TCGA-EE-A2GO-10A-01D-A198-08 g.chr19:3011136G>A c.896C>T c.(895-897)cCt>cTt p.P299L SKCM 19 3013779 3013779 + Missense_Mutation SNP G G A TCGA-EE-A2MC-06A-12D-A197-08 TCGA-EE-A2MC-10A-01D-A199-08 g.chr19:3013779G>A c.761C>T c.(760-762)cCc>cTc p.P254L SKCM 19 3019299 3019299 + Missense_Mutation SNP C C T TCGA-EE-A3JA-06A-11D-A20D-08 TCGA-EE-A3JA-10A-01D-A20D-08 g.chr19:3019299C>T c.532G>A c.(532-534)Gag>Aag p.E178K

Mutation - ICGC Project Code Chromosome Chromosome Start Chromosome End Mutation Type Mutated from Allele Mutated to Allele Consequence Type AA Mutation CDS Mutation BLCA-US 19 3017853 3017853 single base substitution C T 5_prime_UTR_variant BLCA-US 19 3017853 3017853 single base substitution C T downstream_gene_variant BLCA-US 19 3017853 3017853 single base substitution C T exon_variant BLCA-US 19 3017853 3017853 single base substitution C T intron_variant BLCA-US 19 3017853 3017853 single base substitution C T synonymous_variant E185E 555G>A BLCA-US 19 3017853 3017853 single base substitution C T synonymous_variant E186E 558G>A BLCA-US 19 3017853 3017853 single base substitution C T synonymous_variant E199E 597G>A BLCA-US 19 3019709 3019709 single base substitution G C 5_prime_UTR_variant BLCA-US 19 3019709 3019709 single base substitution G C exon_variant BLCA-US 19 3019709 3019709 single base substitution G C intron_variant BLCA-US 19 3019709 3019709 single base substitution G C missense_variant N119K 357C>G BLCA-US 19 3019709 3019709 single base substitution G C missense_variant N132K 396C>G BLCA-US 19 3019709 3019709 single base substitution G C missense_variant N23K 69C>G BLCA-US 19 3019709 3019709 single base substitution G C missense_variant N64K 192C>G BLCA-US 19 3019709 3019709 single base substitution G C upstream_gene_variant BRCA-EU 19 2994072 2994072 single base substitution G T downstream_gene_variant BRCA-EU 19 2994074 2994074 single base substitution C T downstream_gene_variant BRCA-EU 19 2994232 2994232 single base substitution G C downstream_gene_variant BRCA-EU 19 2994849 2994849 single base substitution G T downstream_gene_variant BRCA-EU 19 2994886 2994886 single base substitution C T downstream_gene_variant BRCA-EU 19 2994904 2994904 single base substitution G A downstream_gene_variant BRCA-EU 19 2995653 2995653 single base substitution G A downstream_gene_variant BRCA-EU 19 2996695 2996695 single base substitution T C downstream_gene_variant BRCA-EU 19 2997496 2997496 single base substitution C T downstream_gene_variant BRCA-EU 19 2999286 2999286 single base substitution A C intron_variant BRCA-EU 19 3001289 3001289 single base substitution T A downstream_gene_variant BRCA-EU 19 3001289 3001289 single base substitution T A intron_variant BRCA-EU 19 3002946 3002946 single base substitution C G downstream_gene_variant BRCA-EU 19 3002946 3002946 single base substitution C G intron_variant BRCA-EU 19 3004636 3004636 single base substitution A C downstream_gene_variant BRCA-EU 19 3004636 3004636 single base substitution A C intron_variant BRCA-EU 19 3004780 3004780 single base substitution C T downstream_gene_variant BRCA-EU 19 3004780 3004780 single base substitution C T intron_variant BRCA-EU 19 3005390 3005390 single base substitution T G downstream_gene_variant BRCA-EU 19 3005390 3005390 single base substitution T G intron_variant BRCA-EU 19 3005565 3005565 single base substitution G A downstream_gene_variant BRCA-EU 19 3005565 3005565 single base substitution G A intron_variant BRCA-EU 19 3005565 3005565 single base substitution G A missense_variant T237M 710C>T BRCA-EU 19 3005565 3005565 single base substitution G A missense_variant T256M 767C>T BRCA-EU 19 3005565 3005565 single base substitution G A missense_variant T467M 1400C>T BRCA-EU 19 3005565 3005565 single base substitution G A missense_variant T589M 1766C>T BRCA-EU 19 3005565 3005565 single base substitution G A missense_variant T590M 1769C>T BRCA-EU 19 3005565 3005565 single base substitution G A missense_variant T603M 1808C>T BRCA-EU 19 3006174 3006174 single base substitution C T downstream_gene_variant BRCA-EU 19 3006174 3006174 single base substitution C T intron_variant BRCA-EU 19 3006307 3006307 single base substitution C T downstream_gene_variant BRCA-EU 19 3006307 3006307 single base substitution C T intron_variant BRCA-EU 19 3006710 3006710 single base substitution C T downstream_gene_variant BRCA-EU 19 3006710 3006710 single base substitution C T intron_variant BRCA-EU 19 3006712 3006712 single base substitution C A downstream_gene_variant BRCA-EU 19 3006712 3006712 single base substitution C A intron_variant BRCA-EU 19 3008147 3008147 single base substitution G A downstream_gene_variant BRCA-EU 19 3008147 3008147 single base substitution G A intron_variant BRCA-EU 19 3008905 3008905 single base substitution G A downstream_gene_variant BRCA-EU 19 3008905 3008905 single base substitution G A intron_variant BRCA-EU 19 3008905 3008905 single base substitution G A synonymous_variant S282S 846C>T BRCA-EU 19 3008905 3008905 single base substitution G A synonymous_variant S404S 1212C>T BRCA-EU 19 3008905 3008905 single base substitution G A synonymous_variant S405S 1215C>T BRCA-EU 19 3008905 3008905 single base substitution G A synonymous_variant S418S 1254C>T BRCA-EU 19 3008905 3008905 single base substitution G A synonymous_variant S52S 156C>T BRCA-EU 19 3008905 3008905 single base substitution G A synonymous_variant S71S 213C>T BRCA-EU 19 3008905 3008905 single base substitution G A upstream_gene_variant BRCA-EU 19 3009384 3009384 single base substitution G A downstream_gene_variant BRCA-EU 19 3009384 3009384 single base substitution G A intron_variant BRCA-EU 19 3009384 3009384 single base substitution G A upstream_gene_variant BRCA-EU 19 3010218 3010218 single base substitution T A downstream_gene_variant BRCA-EU 19 3010218 3010218 single base substitution T A intron_variant BRCA-EU 19 3010218 3010218 single base substitution T A upstream_gene_variant BRCA-EU 19 3010356 3010356 single base substitution C A downstream_gene_variant BRCA-EU 19 3010356 3010356 single base substitution C A intron_variant BRCA-EU 19 3010356 3010356 single base substitution C A upstream_gene_variant BRCA-EU 19 3011543 3011543 deletion of <=200bp G - downstream_gene_variant BRCA-EU 19 3011543 3011543 deletion of <=200bp G - intron_variant BRCA-EU 19 3011543 3011543 deletion of <=200bp G - upstream_gene_variant BRCA-EU 19 3011864 3011864 insertion of <=200bp - A downstream_gene_variant BRCA-EU 19 3011864 3011864 insertion of <=200bp - A intron_variant BRCA-EU 19 3011864 3011864 insertion of <=200bp - A upstream_gene_variant BRCA-EU 19 3012799 3012799 single base substitution C T downstream_gene_variant BRCA-EU 19 3012799 3012799 single base substitution C T intron_variant BRCA-EU 19 3012799 3012799 single base substitution C T upstream_gene_variant BRCA-EU 19 3014135 3014135 single base substitution C T downstream_gene_variant BRCA-EU 19 3014135 3014135 single base substitution C T intron_variant BRCA-EU 19 3015182 3015182 single base substitution G A downstream_gene_variant BRCA-EU 19 3015182 3015182 single base substitution G A intron_variant BRCA-EU 19 3015885 3015885 single base substitution G A downstream_gene_variant BRCA-EU 19 3015885 3015885 single base substitution G A intron_variant BRCA-EU 19 3015942 3015942 single base substitution T C downstream_gene_variant BRCA-EU 19 3015942 3015942 single base substitution T C intron_variant BRCA-EU 19 3016672 3016672 single base substitution G C downstream_gene_variant BRCA-EU 19 3016672 3016672 single base substitution G C intron_variant BRCA-EU 19 3016777 3016777 single base substitution G A downstream_gene_variant BRCA-EU 19 3016777 3016777 single base substitution G A intron_variant BRCA-EU 19 3017896 3017916 deletion of <=200bp AAGAATGAGGCGTTTGTATCC - downstream_gene_variant BRCA-EU 19 3017896 3017916 deletion of <=200bp AAGAATGAGGCGTTTGTATCC - intron_variant BRCA-EU 19 3018664 3018664 single base substitution G A downstream_gene_variant BRCA-EU 19 3018664 3018664 single base substitution G A intron_variant BRCA-EU 19 3019013 3019013 single base substitution C T downstream_gene_variant BRCA-EU 19 3019013 3019013 single base substitution C T intron_variant BRCA-EU 19 3020420 3020420 single base substitution C A intron_variant BRCA-EU 19 3020420 3020420 single base substitution C A upstream_gene_variant BRCA-EU 19 3022002 3022002 single base substitution G C intron_variant BRCA-EU 19 3022002 3022002 single base substitution G C upstream_gene_variant BRCA-EU 19 3022524 3022524 single base substitution C G intron_variant BRCA-EU 19 3022524 3022524 single base substitution C G upstream_gene_variant BRCA-EU 19 3022737 3022737 single base substitution A T intron_variant BRCA-EU 19 3022737 3022737 single base substitution A T upstream_gene_variant BRCA-EU 19 3023058 3023058 single base substitution T C intron_variant BRCA-EU 19 3023058 3023058 single base substitution T C upstream_gene_variant BRCA-EU 19 3024154 3024154 single base substitution A G intron_variant BRCA-EU 19 3024154 3024154 single base substitution A G upstream_gene_variant BRCA-EU 19 3024608 3024608 single base substitution G A intron_variant BRCA-EU 19 3024608 3024608 single base substitution G A upstream_gene_variant BRCA-EU 19 3025671 3025671 single base substitution G T intron_variant BRCA-EU 19 3025671 3025671 single base substitution G T upstream_gene_variant BRCA-EU 19 3025830 3025830 single base substitution G A intron_variant BRCA-EU 19 3025830 3025830 single base substitution G A upstream_gene_variant BRCA-EU 19 3026787 3026787 single base substitution C A intron_variant BRCA-EU 19 3026787 3026787 single base substitution C A upstream_gene_variant BRCA-EU 19 3027837 3027837 single base substitution A G exon_variant BRCA-EU 19 3027837 3027837 single base substitution A G missense_variant M19T 56T>C BRCA-EU 19 3027837 3027837 single base substitution A G missense_variant M67T 200T>C BRCA-EU 19 3027837 3027837 single base substitution A G missense_variant M74T 221T>C BRCA-EU 19 3027837 3027837 single base substitution A G missense_variant M87T 260T>C BRCA-EU 19 3027837 3027837 single base substitution A G upstream_gene_variant BRCA-EU 19 3027992 3027992 insertion of <=200bp - C intron_variant BRCA-EU 19 3027992 3027992 insertion of <=200bp - C upstream_gene_variant BRCA-EU 19 3030158 3030158 single base substitution C T intron_variant BRCA-EU 19 3030158 3030158 single base substitution C T upstream_gene_variant BRCA-EU 19 3030903 3030903 single base substitution C G intron_variant BRCA-EU 19 3030903 3030903 single base substitution C G upstream_gene_variant BRCA-EU 19 3031622 3031622 single base substitution C A intron_variant BRCA-EU 19 3031622 3031622 single base substitution C A upstream_gene_variant BRCA-EU 19 3032970 3032970 single base substitution C G intron_variant BRCA-EU 19 3032970 3032970 single base substitution C G upstream_gene_variant BRCA-EU 19 3033986 3033986 single base substitution G A intron_variant BRCA-EU 19 3033986 3033986 single base substitution G A upstream_gene_variant BRCA-EU 19 3038176 3038176 single base substitution G C intron_variant BRCA-EU 19 3039059 3039059 single base substitution T A intron_variant BRCA-EU 19 3039385 3039385 single base substitution C A intron_variant BRCA-EU 19 3039832 3039832 single base substitution C G intron_variant BRCA-EU 19 3040680 3040680 single base substitution C G intron_variant BRCA-EU 19 3041138 3041138 single base substitution C T intron_variant BRCA-EU 19 3041715 3041715 single base substitution C T intron_variant BRCA-EU 19 3042961 3042961 single base substitution C T intron_variant BRCA-EU 19 3043585 3043585 single base substitution C T intron_variant BRCA-EU 19 3045000 3045000 single base substitution G C intron_variant BRCA-EU 19 3047730 3047733 deletion of <=200bp TTCT - upstream_gene_variant BRCA-EU 19 3048213 3048213 single base substitution G A upstream_gene_variant BRCA-EU 19 3048421 3048421 single base substitution A C upstream_gene_variant BRCA-EU 19 3048767 3048767 single base substitution C T upstream_gene_variant BRCA-EU 19 3050669 3050669 single base substitution G T upstream_gene_variant BRCA-EU 19 3051257 3051257 single base substitution G A upstream_gene_variant BRCA-EU 19 3051844 3051844 single base substitution C T upstream_gene_variant BRCA-EU 19 3051941 3051941 insertion of <=200bp - A upstream_gene_variant BRCA-EU 19 3052096 3052096 deletion of <=200bp T - upstream_gene_variant BRCA-EU 19 3052349 3052349 deletion of <=200bp T - upstream_gene_variant BRCA-FR 19 2994074 2994074 single base substitution C T downstream_gene_variant BRCA-FR 19 2996695 2996695 single base substitution T C downstream_gene_variant BRCA-FR 19 2997496 2997496 single base substitution C T downstream_gene_variant BRCA-FR 19 3004780 3004780 single base substitution C T downstream_gene_variant BRCA-FR 19 3004780 3004780 single base substitution C T intron_variant BRCA-FR 19 3033986 3033986 single base substitution G A intron_variant BRCA-FR 19 3033986 3033986 single base substitution G A upstream_gene_variant BRCA-UK 19 2999658 2999658 single base substitution G T intron_variant BRCA-UK 19 2999829 2999829 single base substitution G A intron_variant BRCA-UK 19 3000259 3000259 single base substitution G C intron_variant BRCA-UK 19 3014535 3014535 single base substitution G C downstream_gene_variant BRCA-UK 19 3014535 3014535 single base substitution G C intron_variant BRCA-UK 19 3031279 3031279 single base substitution G A intron_variant BRCA-UK 19 3031279 3031279 single base substitution G A upstream_gene_variant BRCA-UK 19 3035280 3035280 single base substitution C T intron_variant BRCA-US 19 2993572 2993572 single base substitution C G downstream_gene_variant BRCA-US 19 2994071 2994071 single base substitution C T downstream_gene_variant BRCA-US 19 2997923 2997923 single base substitution C G intron_variant BRCA-US 19 2997923 2997923 single base substitution C G missense_variant D386H 1156G>C BRCA-US 19 2997923 2997923 single base substitution C G missense_variant D597H 1789G>C BRCA-US 19 2997923 2997923 single base substitution C G missense_variant D719H 2155G>C BRCA-US 19 2997923 2997923 single base substitution C G missense_variant D720H 2158G>C BRCA-US 19 2997923 2997923 single base substitution C G stop_lost *707S 2120G>C BRCA-US 19 3005795 3005795 single base substitution C T downstream_gene_variant BRCA-US 19 3005795 3005795 single base substitution C T intron_variant BRCA-US 19 3005795 3005795 single base substitution C T missense_variant D206N 616G>A BRCA-US 19 3005795 3005795 single base substitution C T missense_variant D225N 673G>A BRCA-US 19 3005795 3005795 single base substitution C T missense_variant D436N 1306G>A BRCA-US 19 3005795 3005795 single base substitution C T missense_variant D558N 1672G>A BRCA-US 19 3005795 3005795 single base substitution C T missense_variant D559N 1675G>A BRCA-US 19 3005795 3005795 single base substitution C T missense_variant D572N 1714G>A BRCA-US 19 3013795 3013795 insertion of <=200bp - G 5_prime_UTR_variant BRCA-US 19 3013795 3013795 insertion of <=200bp - G downstream_gene_variant BRCA-US 19 3013795 3013795 insertion of <=200bp - G exon_variant BRCA-US 19 3013795 3013795 insertion of <=200bp - G frameshift_variant S127T? BRCA-US 19 3013795 3013795 insertion of <=200bp - G frameshift_variant S129T? BRCA-US 19 3013795 3013795 insertion of <=200bp - G frameshift_variant S249T? BRCA-US 19 3013795 3013795 insertion of <=200bp - G frameshift_variant S250T? BRCA-US 19 3013795 3013795 insertion of <=200bp - G frameshift_variant S263T? BRCA-US 19 3013795 3013795 insertion of <=200bp - G intron_variant BRCA-US 19 3013795 3013795 insertion of <=200bp - G upstream_gene_variant BRCA-US 19 3028349 3028349 single base substitution C T 5_prime_UTR_variant BRCA-US 19 3028349 3028349 single base substitution C T exon_variant BRCA-US 19 3028349 3028349 single base substitution C T missense_variant E45K 133G>A BRCA-US 19 3028349 3028349 single base substitution C T missense_variant E52K 154G>A BRCA-US 19 3028349 3028349 single base substitution C T missense_variant E65K 193G>A BRCA-US 19 3028349 3028349 single base substitution C T upstream_gene_variant BTCA-JP 19 2998086 2998086 single base substitution G C intron_variant BTCA-JP 19 3000718 3000718 single base substitution C T downstream_gene_variant BTCA-JP 19 3000718 3000718 single base substitution C T intron_variant BTCA-JP 19 3000718 3000718 single base substitution C T missense_variant R351Q 1052G>A BTCA-JP 19 3000718 3000718 single base substitution C T missense_variant R562Q 1685G>A BTCA-JP 19 3000718 3000718 single base substitution C T missense_variant R684Q 2051G>A BTCA-JP 19 3000718 3000718 single base substitution C T missense_variant R685Q 2054G>A BTCA-JP 19 3005866 3005866 single base substitution G A downstream_gene_variant BTCA-JP 19 3005866 3005866 single base substitution G A exon_variant BTCA-JP 19 3005866 3005866 single base substitution G A intron_variant BTCA-JP 19 3005866 3005866 single base substitution G A missense_variant A182V 545C>T BTCA-JP 19 3005866 3005866 single base substitution G A missense_variant A201V 602C>T BTCA-JP 19 3005866 3005866 single base substitution G A missense_variant A412V 1235C>T BTCA-JP 19 3005866 3005866 single base substitution G A missense_variant A534V 1601C>T BTCA-JP 19 3005866 3005866 single base substitution G A missense_variant A535V 1604C>T BTCA-JP 19 3005866 3005866 single base substitution G A missense_variant A548V 1643C>T BTCA-JP 19 3006595 3006595 single base substitution G A downstream_gene_variant BTCA-JP 19 3006595 3006595 single base substitution G A exon_variant BTCA-JP 19 3006595 3006595 single base substitution G A intron_variant BTCA-JP 19 3006595 3006595 single base substitution G A synonymous_variant G108G 324C>T BTCA-JP 19 3006595 3006595 single base substitution G A synonymous_variant G319G 957C>T BTCA-JP 19 3006595 3006595 single base substitution G A synonymous_variant G441G 1323C>T BTCA-JP 19 3006595 3006595 single base substitution G A synonymous_variant G442G 1326C>T BTCA-JP 19 3006595 3006595 single base substitution G A synonymous_variant G455G 1365C>T BTCA-JP 19 3006595 3006595 single base substitution G A synonymous_variant G89G 267C>T BTCA-JP 19 3015690 3015690 single base substitution C T 5_prime_UTR_variant BTCA-JP 19 3015690 3015690 single base substitution C T downstream_gene_variant BTCA-JP 19 3015690 3015690 single base substitution C T exon_variant BTCA-JP 19 3015690 3015690 single base substitution C T intron_variant BTCA-JP 19 3015690 3015690 single base substitution C T synonymous_variant G121G 363G>A BTCA-JP 19 3015690 3015690 single base substitution C T synonymous_variant G213G 639G>A BTCA-JP 19 3015690 3015690 single base substitution C T synonymous_variant G214G 642G>A BTCA-JP 19 3015690 3015690 single base substitution C T synonymous_variant G227G 681G>A BTCA-JP 19 3015690 3015690 single base substitution C T synonymous_variant G91G 273G>A BTCA-JP 19 3015690 3015690 single base substitution C T synonymous_variant G93G 279G>A BTCA-JP 19 3017751 3017751 single base substitution A T downstream_gene_variant BTCA-JP 19 3017751 3017751 single base substitution A T intron_variant BTCA-JP 19 3027992 3027992 deletion of <=200bp C - intron_variant BTCA-JP 19 3027992 3027992 deletion of <=200bp C - upstream_gene_variant CESC-US 19 3005538 3005538 single base substitution G A downstream_gene_variant CESC-US 19 3005538 3005538 single base substitution G A intron_variant CESC-US 19 3005538 3005538 single base substitution G A missense_variant S246F 737C>T CESC-US 19 3005538 3005538 single base substitution G A missense_variant S265F 794C>T CESC-US 19 3005538 3005538 single base substitution G A missense_variant S476F 1427C>T CESC-US 19 3005538 3005538 single base substitution G A missense_variant S598F 1793C>T CESC-US 19 3005538 3005538 single base substitution G A missense_variant S599F 1796C>T CESC-US 19 3005538 3005538 single base substitution G A missense_variant S612F 1835C>T CESC-US 19 3015661 3015661 single base substitution G C 5_prime_UTR_premature_start_codon_gain_variant CESC-US 19 3015661 3015661 single base substitution G C downstream_gene_variant CESC-US 19 3015661 3015661 single base substitution G C exon_variant CESC-US 19 3015661 3015661 single base substitution G C intron_variant CESC-US 19 3015661 3015661 single base substitution G C stop_gained S101* 302C>G CESC-US 19 3015661 3015661 single base substitution G C stop_gained S103* 308C>G CESC-US 19 3015661 3015661 single base substitution G C stop_gained S131* 392C>G CESC-US 19 3015661 3015661 single base substitution G C stop_gained S223* 668C>G CESC-US 19 3015661 3015661 single base substitution G C stop_gained S224* 671C>G CESC-US 19 3015661 3015661 single base substitution G C stop_gained S237* 710C>G CESC-US 19 3025051 3025051 single base substitution G C 5_prime_UTR_premature_start_codon_gain_variant CESC-US 19 3025051 3025051 single base substitution G C exon_variant CESC-US 19 3025051 3025051 single base substitution G C intron_variant CESC-US 19 3025051 3025051 single base substitution G C missense_variant I100M 300C>G CESC-US 19 3025051 3025051 single base substitution G C missense_variant I32M 96C>G CESC-US 19 3025051 3025051 single base substitution G C missense_variant I87M 261C>G CESC-US 19 3025051 3025051 single base substitution G C upstream_gene_variant CLLE-ES 19 3012478 3012478 single base substitution G T downstream_gene_variant CLLE-ES 19 3012478 3012478 single base substitution G T intron_variant CLLE-ES 19 3012478 3012478 single base substitution G T upstream_gene_variant CLLE-ES 19 3023880 3023880 single base substitution A G intron_variant CLLE-ES 19 3023880 3023880 single base substitution A G upstream_gene_variant COAD-US 19 2993570 2993570 single base substitution C G downstream_gene_variant COAD-US 19 3005844 3005844 single base substitution G A downstream_gene_variant COAD-US 19 3005844 3005844 single base substitution G A exon_variant COAD-US 19 3005844 3005844 single base substitution G A intron_variant COAD-US 19 3005844 3005844 single base substitution G A synonymous_variant A189A 567C>T COAD-US 19 3005844 3005844 single base substitution G A synonymous_variant A208A 624C>T COAD-US 19 3005844 3005844 single base substitution G A synonymous_variant A419A 1257C>T COAD-US 19 3005844 3005844 single base substitution G A synonymous_variant A541A 1623C>T COAD-US 19 3005844 3005844 single base substitution G A synonymous_variant A542A 1626C>T COAD-US 19 3005844 3005844 single base substitution G A synonymous_variant A555A 1665C>T COAD-US 19 3006458 3006458 single base substitution T C downstream_gene_variant COAD-US 19 3006458 3006458 single base substitution T C intron_variant COAD-US 19 3006458 3006458 single base substitution T C missense_variant Q135R 404A>G COAD-US 19 3006458 3006458 single base substitution T C missense_variant Q154R 461A>G COAD-US 19 3006458 3006458 single base substitution T C missense_variant Q365R 1094A>G COAD-US 19 3006458 3006458 single base substitution T C missense_variant Q487R 1460A>G COAD-US 19 3006458 3006458 single base substitution T C missense_variant Q488R 1463A>G COAD-US 19 3006458 3006458 single base substitution T C missense_variant Q501R 1502A>G COAD-US 19 3006466 3006466 single base substitution G A downstream_gene_variant COAD-US 19 3006466 3006466 single base substitution G A intron_variant COAD-US 19 3006466 3006466 single base substitution G A synonymous_variant D132D 396C>T COAD-US 19 3006466 3006466 single base substitution G A synonymous_variant D151D 453C>T COAD-US 19 3006466 3006466 single base substitution G A synonymous_variant D362D 1086C>T COAD-US 19 3006466 3006466 single base substitution G A synonymous_variant D484D 1452C>T COAD-US 19 3006466 3006466 single base substitution G A synonymous_variant D485D 1455C>T COAD-US 19 3006466 3006466 single base substitution G A synonymous_variant D498D 1494C>T COAD-US 19 3009686 3009686 deletion of <=200bp G - downstream_gene_variant COAD-US 19 3009686 3009686 deletion of <=200bp G - exon_variant COAD-US 19 3009686 3009686 deletion of <=200bp G - frameshift_variant L221 COAD-US 19 3009686 3009686 deletion of <=200bp G - frameshift_variant L343 COAD-US 19 3009686 3009686 deletion of <=200bp G - frameshift_variant L344 COAD-US 19 3009686 3009686 deletion of <=200bp G - frameshift_variant L357 COAD-US 19 3009686 3009686 deletion of <=200bp G - intron_variant COAD-US 19 3009686 3009686 deletion of <=200bp G - upstream_gene_variant COAD-US 19 3011031 3011031 single base substitution G A downstream_gene_variant COAD-US 19 3011031 3011031 single base substitution G A exon_variant COAD-US 19 3011031 3011031 single base substitution G A intron_variant COAD-US 19 3011031 3011031 single base substitution G A missense_variant R43W 127C>T COAD-US 19 3011031 3011031 single base substitution G A missense_variant T212M 635C>T COAD-US 19 3011031 3011031 single base substitution G A missense_variant T334M 1001C>T COAD-US 19 3011031 3011031 single base substitution G A missense_variant T335M 1004C>T COAD-US 19 3011031 3011031 single base substitution G A missense_variant T348M 1043C>T COAD-US 19 3011031 3011031 single base substitution G A upstream_gene_variant COAD-US 19 3015694 3015694 single base substitution C T 5_prime_UTR_variant COAD-US 19 3015694 3015694 single base substitution C T downstream_gene_variant COAD-US 19 3015694 3015694 single base substitution C T exon_variant COAD-US 19 3015694 3015694 single base substitution C T intron_variant COAD-US 19 3015694 3015694 single base substitution C T missense_variant G120D 359G>A COAD-US 19 3015694 3015694 single base substitution C T missense_variant G212D 635G>A COAD-US 19 3015694 3015694 single base substitution C T missense_variant G213D 638G>A COAD-US 19 3015694 3015694 single base substitution C T missense_variant G226D 677G>A COAD-US 19 3015694 3015694 single base substitution C T missense_variant G90D 269G>A COAD-US 19 3015694 3015694 single base substitution C T missense_variant G92D 275G>A COAD-US 19 3028803 3028803 insertion of <=200bp - G 5_prime_UTR_variant COAD-US 19 3028803 3028803 insertion of <=200bp - G splice_acceptor_variant COAD-US 19 3028803 3028803 insertion of <=200bp - G upstream_gene_variant COAD-US 19 3028804 3028804 deletion of <=200bp G - 5_prime_UTR_variant COAD-US 19 3028804 3028804 deletion of <=200bp G - splice_region_variant COAD-US 19 3028804 3028804 deletion of <=200bp G - upstream_gene_variant COCA-CN 19 2994903 2994903 single base substitution T C downstream_gene_variant COCA-CN 19 2994967 2994967 single base substitution G A downstream_gene_variant COCA-CN 19 2995030 2995030 single base substitution G A downstream_gene_variant COCA-CN 19 3002460 3002460 single base substitution C T downstream_gene_variant COCA-CN 19 3002460 3002460 single base substitution C T intron_variant COCA-CN 19 3002460 3002460 single base substitution C T synonymous_variant A313A 939G>A COCA-CN 19 3002460 3002460 single base substitution C T synonymous_variant A524A 1572G>A COCA-CN 19 3002460 3002460 single base substitution C T synonymous_variant A646A 1938G>A COCA-CN 19 3002460 3002460 single base substitution C T synonymous_variant A647A 1941G>A COCA-CN 19 3002460 3002460 single base substitution C T synonymous_variant A660A 1980G>A COCA-CN 19 3005585 3005585 single base substitution G A downstream_gene_variant COCA-CN 19 3005585 3005585 single base substitution G A intron_variant COCA-CN 19 3005585 3005585 single base substitution G A splice_region_variant COCA-CN 19 3005681 3005681 single base substitution G A downstream_gene_variant COCA-CN 19 3005681 3005681 single base substitution G A intron_variant COCA-CN 19 3005976 3005976 single base substitution G A downstream_gene_variant COCA-CN 19 3005976 3005976 single base substitution G A intron_variant COCA-CN 19 3013624 3013624 single base substitution G A downstream_gene_variant COCA-CN 19 3013624 3013624 single base substitution G A intron_variant COCA-CN 19 3013624 3013624 single base substitution G A upstream_gene_variant COCA-CN 19 3015618 3015618 single base substitution G A downstream_gene_variant COCA-CN 19 3015618 3015618 single base substitution G A intron_variant COCA-CN 19 3028871 3028871 single base substitution G C intron_variant COCA-CN 19 3028871 3028871 single base substitution G C splice_region_variant COCA-CN 19 3028871 3028871 single base substitution G C upstream_gene_variant EOPC-DE 19 3001496 3001496 single base substitution T A downstream_gene_variant EOPC-DE 19 3001496 3001496 single base substitution T A intron_variant EOPC-DE 19 3025000 3025000 single base substitution A C intron_variant EOPC-DE 19 3025000 3025000 single base substitution A C upstream_gene_variant ESAD-UK 19 2993124 2993124 single base substitution G A downstream_gene_variant ESAD-UK 19 2994071 2994071 single base substitution C T downstream_gene_variant ESAD-UK 19 2999131 2999131 single base substitution T G intron_variant ESAD-UK 19 2999370 2999370 single base substitution A C intron_variant ESAD-UK 19 3000226 3000226 single base substitution C T intron_variant ESAD-UK 19 3001015 3001015 single base substitution G A downstream_gene_variant ESAD-UK 19 3001015 3001015 single base substitution G A intron_variant ESAD-UK 19 3002365 3002365 single base substitution T G downstream_gene_variant ESAD-UK 19 3002365 3002365 single base substitution T G intron_variant ESAD-UK 19 3002365 3002365 single base substitution T G missense_variant K345T 1034A>C ESAD-UK 19 3002365 3002365 single base substitution T G missense_variant K556T 1667A>C ESAD-UK 19 3002365 3002365 single base substitution T G missense_variant K678T 2033A>C ESAD-UK 19 3002365 3002365 single base substitution T G missense_variant K679T 2036A>C ESAD-UK 19 3002365 3002365 single base substitution T G missense_variant K692T 2075A>C ESAD-UK 19 3008381 3008381 single base substitution G C downstream_gene_variant ESAD-UK 19 3008381 3008381 single base substitution G C intron_variant ESAD-UK 19 3011459 3011459 single base substitution G A downstream_gene_variant ESAD-UK 19 3011459 3011459 single base substitution G A intron_variant ESAD-UK 19 3011459 3011459 single base substitution G A upstream_gene_variant ESAD-UK 19 3012201 3012201 single base substitution A C downstream_gene_variant ESAD-UK 19 3012201 3012201 single base substitution A C intron_variant ESAD-UK 19 3012201 3012201 single base substitution A C upstream_gene_variant ESAD-UK 19 3012774 3012774 single base substitution C A downstream_gene_variant ESAD-UK 19 3012774 3012774 single base substitution C A intron_variant ESAD-UK 19 3012774 3012774 single base substitution C A upstream_gene_variant ESAD-UK 19 3015704 3015704 single base substitution G A 5_prime_UTR_variant ESAD-UK 19 3015704 3015704 single base substitution G A downstream_gene_variant ESAD-UK 19 3015704 3015704 single base substitution G A exon_variant ESAD-UK 19 3015704 3015704 single base substitution G A intron_variant ESAD-UK 19 3015704 3015704 single base substitution G A missense_variant P117S 349C>T ESAD-UK 19 3015704 3015704 single base substitution G A missense_variant P209S 625C>T ESAD-UK 19 3015704 3015704 single base substitution G A missense_variant P210S 628C>T ESAD-UK 19 3015704 3015704 single base substitution G A missense_variant P223S 667C>T ESAD-UK 19 3015704 3015704 single base substitution G A missense_variant P87S 259C>T ESAD-UK 19 3015704 3015704 single base substitution G A missense_variant P89S 265C>T ESAD-UK 19 3017841 3017841 single base substitution G T 5_prime_UTR_variant ESAD-UK 19 3017841 3017841 single base substitution G T downstream_gene_variant ESAD-UK 19 3017841 3017841 single base substitution G T exon_variant ESAD-UK 19 3017841 3017841 single base substitution G T intron_variant ESAD-UK 19 3017841 3017841 single base substitution G T missense_variant S189R 567C>A ESAD-UK 19 3017841 3017841 single base substitution G T missense_variant S190R 570C>A ESAD-UK 19 3017841 3017841 single base substitution G T missense_variant S203R 609C>A ESAD-UK 19 3017955 3017955 single base substitution C T downstream_gene_variant ESAD-UK 19 3017955 3017955 single base substitution C T intron_variant ESAD-UK 19 3019295 3019295 single base substitution G A 5_prime_UTR_variant ESAD-UK 19 3019295 3019295 single base substitution G A downstream_gene_variant ESAD-UK 19 3019295 3019295 single base substitution G A exon_variant ESAD-UK 19 3019295 3019295 single base substitution G A intron_variant ESAD-UK 19 3019295 3019295 single base substitution G A missense_variant A179V 536C>T ESAD-UK 19 3019295 3019295 single base substitution G A missense_variant A180V 539C>T ESAD-UK 19 3019295 3019295 single base substitution G A missense_variant A193V 578C>T ESAD-UK 19 3023680 3023680 single base substitution C T intron_variant ESAD-UK 19 3023680 3023680 single base substitution C T upstream_gene_variant ESAD-UK 19 3024873 3024873 single base substitution G A intron_variant ESAD-UK 19 3024873 3024873 single base substitution G A upstream_gene_variant ESAD-UK 19 3025313 3025313 single base substitution G T exon_variant ESAD-UK 19 3025313 3025313 single base substitution G T intron_variant ESAD-UK 19 3025313 3025313 single base substitution G T upstream_gene_variant ESAD-UK 19 3025658 3025658 single base substitution G A intron_variant ESAD-UK 19 3025658 3025658 single base substitution G A upstream_gene_variant ESAD-UK 19 3026274 3026274 single base substitution G A intron_variant ESAD-UK 19 3026274 3026274 single base substitution G A upstream_gene_variant ESAD-UK 19 3031662 3031662 single base substitution G A intron_variant ESAD-UK 19 3031662 3031662 single base substitution G A upstream_gene_variant ESAD-UK 19 3031979 3031979 single base substitution G A intron_variant ESAD-UK 19 3031979 3031979 single base substitution G A upstream_gene_variant ESAD-UK 19 3031995 3031995 single base substitution G A intron_variant ESAD-UK 19 3031995 3031995 single base substitution G A upstream_gene_variant ESAD-UK 19 3032909 3032909 single base substitution G A intron_variant ESAD-UK 19 3032909 3032909 single base substitution G A upstream_gene_variant ESAD-UK 19 3035723 3035723 single base substitution G A intron_variant ESAD-UK 19 3035882 3035882 single base substitution A G intron_variant ESAD-UK 19 3035930 3035930 single base substitution C T intron_variant ESAD-UK 19 3036118 3036118 single base substitution C A intron_variant ESAD-UK 19 3036129 3036129 single base substitution C T intron_variant ESAD-UK 19 3036893 3036893 single base substitution C T intron_variant ESAD-UK 19 3036921 3036921 single base substitution C G intron_variant ESAD-UK 19 3037770 3037770 single base substitution C G intron_variant ESAD-UK 19 3038143 3038143 insertion of <=200bp - AAT intron_variant ESAD-UK 19 3040684 3040684 single base substitution C T intron_variant ESAD-UK 19 3040792 3040792 single base substitution G A intron_variant ESAD-UK 19 3041315 3041315 single base substitution G A intron_variant ESAD-UK 19 3041724 3041724 single base substitution C A intron_variant ESAD-UK 19 3050452 3050452 single base substitution G T upstream_gene_variant ESCA-CN 19 3013800 3013800 single base substitution G A 5_prime_UTR_variant ESCA-CN 19 3013800 3013800 single base substitution G A downstream_gene_variant ESCA-CN 19 3013800 3013800 single base substitution G A exon_variant ESCA-CN 19 3013800 3013800 single base substitution G A intron_variant ESCA-CN 19 3013800 3013800 single base substitution G A missense_variant P125L 374C>T ESCA-CN 19 3013800 3013800 single base substitution G A missense_variant P127L 380C>T ESCA-CN 19 3013800 3013800 single base substitution G A missense_variant P247L 740C>T ESCA-CN 19 3013800 3013800 single base substitution G A missense_variant P248L 743C>T ESCA-CN 19 3013800 3013800 single base substitution G A missense_variant P261L 782C>T ESCA-CN 19 3013800 3013800 single base substitution G A upstream_gene_variant GACA-CN 19 2997880 2997880 single base substitution T C 3_prime_UTR_variant GACA-CN 19 2997880 2997880 single base substitution T C downstream_gene_variant GACA-CN 19 2997880 2997880 single base substitution T C intron_variant GACA-CN 19 2997880 2997880 single base substitution T C missense_variant D400G 1199A>G GACA-CN 19 2997880 2997880 single base substitution T C missense_variant D611G 1832A>G GACA-CN 19 2997880 2997880 single base substitution T C missense_variant D733G 2198A>G GACA-CN 19 2997880 2997880 single base substitution T C missense_variant D734G 2201A>G GBM-US 19 3005947 3005947 single base substitution C T downstream_gene_variant GBM-US 19 3005947 3005947 single base substitution C T exon_variant GBM-US 19 3005947 3005947 single base substitution C T intron_variant GBM-US 19 3005947 3005947 single base substitution C T missense_variant R155H 464G>A GBM-US 19 3005947 3005947 single base substitution C T missense_variant R174H 521G>A GBM-US 19 3005947 3005947 single base substitution C T missense_variant R385H 1154G>A GBM-US 19 3005947 3005947 single base substitution C T missense_variant R507H 1520G>A GBM-US 19 3005947 3005947 single base substitution C T missense_variant R508H 1523G>A GBM-US 19 3005947 3005947 single base substitution C T missense_variant R521H 1562G>A GBM-US 19 3013710 3013710 single base substitution G A 5_prime_UTR_variant GBM-US 19 3013710 3013710 single base substitution G A downstream_gene_variant GBM-US 19 3013710 3013710 single base substitution G A exon_variant GBM-US 19 3013710 3013710 single base substitution G A intron_variant GBM-US 19 3013710 3013710 single base substitution G A missense_variant S155F 464C>T GBM-US 19 3013710 3013710 single base substitution G A missense_variant S277F 830C>T GBM-US 19 3013710 3013710 single base substitution G A missense_variant S278F 833C>T GBM-US 19 3013710 3013710 single base substitution G A missense_variant S291F 872C>T GBM-US 19 3013710 3013710 single base substitution G A upstream_gene_variant LAML-KR 19 3013624 3013624 single base substitution G A downstream_gene_variant LAML-KR 19 3013624 3013624 single base substitution G A intron_variant LAML-KR 19 3013624 3013624 single base substitution G A upstream_gene_variant LAML-KR 19 3017872 3017872 single base substitution A G downstream_gene_variant LAML-KR 19 3017872 3017872 single base substitution A G intron_variant LAML-KR 19 3018723 3018723 single base substitution C T downstream_gene_variant LAML-KR 19 3018723 3018723 single base substitution C T intron_variant LICA-CN 19 3000723 3000723 single base substitution T C downstream_gene_variant LICA-CN 19 3000723 3000723 single base substitution T C intron_variant LICA-CN 19 3000723 3000723 single base substitution T C splice_acceptor_variant LICA-CN 19 3009642 3009642 single base substitution G A downstream_gene_variant LICA-CN 19 3009642 3009642 single base substitution G A exon_variant LICA-CN 19 3009642 3009642 single base substitution G A intron_variant LICA-CN 19 3009642 3009642 single base substitution G A synonymous_variant S235S 705C>T LICA-CN 19 3009642 3009642 single base substitution G A synonymous_variant S357S 1071C>T LICA-CN 19 3009642 3009642 single base substitution G A synonymous_variant S358S 1074C>T LICA-CN 19 3009642 3009642 single base substitution G A synonymous_variant S371S 1113C>T LICA-CN 19 3009642 3009642 single base substitution G A upstream_gene_variant LICA-CN 19 3028783 3028783 single base substitution G A 5_prime_UTR_variant LICA-CN 19 3028783 3028783 single base substitution G A exon_variant LICA-CN 19 3028783 3028783 single base substitution G A stop_gained Q15* 43C>T LICA-CN 19 3028783 3028783 single base substitution G A stop_gained Q28* 82C>T LICA-CN 19 3028783 3028783 single base substitution G A stop_gained Q8* 22C>T LICA-CN 19 3028783 3028783 single base substitution G A upstream_gene_variant LICA-FR 19 2993106 2993106 single base substitution G A downstream_gene_variant LICA-FR 19 2994091 2994091 single base substitution G A downstream_gene_variant LICA-FR 19 2994101 2994101 single base substitution G A downstream_gene_variant LICA-FR 19 2999831 2999831 single base substitution G C intron_variant LICA-FR 19 3024919 3024919 single base substitution C T intron_variant LICA-FR 19 3024919 3024919 single base substitution C T upstream_gene_variant LINC-JP 19 2993943 2993943 single base substitution T G downstream_gene_variant LINC-JP 19 2994685 2994685 single base substitution C A downstream_gene_variant LINC-JP 19 2996161 2996161 single base substitution G C downstream_gene_variant LINC-JP 19 2998137 2998137 single base substitution T G intron_variant LINC-JP 19 3008262 3008262 single base substitution C A downstream_gene_variant LINC-JP 19 3008262 3008262 single base substitution C A intron_variant LINC-JP 19 3008467 3008467 single base substitution G T downstream_gene_variant LINC-JP 19 3008467 3008467 single base substitution G T intron_variant LINC-JP 19 3009798 3009798 single base substitution A G downstream_gene_variant LINC-JP 19 3009798 3009798 single base substitution A G intron_variant LINC-JP 19 3009798 3009798 single base substitution A G upstream_gene_variant LINC-JP 19 3022608 3022608 single base substitution C A intron_variant LINC-JP 19 3022608 3022608 single base substitution C A upstream_gene_variant LINC-JP 19 3042596 3042596 single base substitution G T intron_variant LIRI-JP 19 3002896 3002896 single base substitution C A downstream_gene_variant LIRI-JP 19 3002896 3002896 single base substitution C A intron_variant LIRI-JP 19 3006668 3006668 single base substitution C T downstream_gene_variant LIRI-JP 19 3006668 3006668 single base substitution C T intron_variant LIRI-JP 19 3006668 3006668 single base substitution C T splice_acceptor_variant LIRI-JP 19 3007530 3007530 single base substitution G A downstream_gene_variant LIRI-JP 19 3007530 3007530 single base substitution G A intron_variant LIRI-JP 19 3008531 3008531 single base substitution C T downstream_gene_variant LIRI-JP 19 3008531 3008531 single base substitution C T intron_variant LIRI-JP 19 3009528 3009528 single base substitution C T downstream_gene_variant LIRI-JP 19 3009528 3009528 single base substitution C T intron_variant LIRI-JP 19 3009528 3009528 single base substitution C T upstream_gene_variant LIRI-JP 19 3011717 3011717 single base substitution G A downstream_gene_variant LIRI-JP 19 3011717 3011717 single base substitution G A intron_variant LIRI-JP 19 3011717 3011717 single base substitution G A upstream_gene_variant LIRI-JP 19 3012104 3012104 single base substitution C T downstream_gene_variant LIRI-JP 19 3012104 3012104 single base substitution C T intron_variant LIRI-JP 19 3012104 3012104 single base substitution C T upstream_gene_variant LIRI-JP 19 3012421 3012421 single base substitution C T downstream_gene_variant LIRI-JP 19 3012421 3012421 single base substitution C T intron_variant LIRI-JP 19 3012421 3012421 single base substitution C T upstream_gene_variant LIRI-JP 19 3015773 3015773 single base substitution A C downstream_gene_variant LIRI-JP 19 3015773 3015773 single base substitution A C intron_variant LIRI-JP 19 3017920 3017920 single base substitution G A downstream_gene_variant LIRI-JP 19 3017920 3017920 single base substitution G A intron_variant LIRI-JP 19 3018321 3018321 single base substitution A G downstream_gene_variant LIRI-JP 19 3018321 3018321 single base substitution A G intron_variant LIRI-JP 19 3020099 3020099 single base substitution G C exon_variant LIRI-JP 19 3020099 3020099 single base substitution G C intron_variant LIRI-JP 19 3020099 3020099 single base substitution G C upstream_gene_variant LIRI-JP 19 3021492 3021492 single base substitution T C intron_variant LIRI-JP 19 3021492 3021492 single base substitution T C upstream_gene_variant LIRI-JP 19 3023458 3023459 deletion of <=200bp AG - intron_variant LIRI-JP 19 3023458 3023459 deletion of <=200bp AG - upstream_gene_variant LIRI-JP 19 3025024 3025024 single base substitution G T 5_prime_UTR_variant LIRI-JP 19 3025024 3025024 single base substitution G T exon_variant LIRI-JP 19 3025024 3025024 single base substitution G T intron_variant LIRI-JP 19 3025024 3025024 single base substitution G T synonymous_variant T109T 327C>A LIRI-JP 19 3025024 3025024 single base substitution G T synonymous_variant T41T 123C>A LIRI-JP 19 3025024 3025024 single base substitution G T synonymous_variant T96T 288C>A LIRI-JP 19 3025024 3025024 single base substitution G T upstream_gene_variant LIRI-JP 19 3026166 3026166 single base substitution C T intron_variant LIRI-JP 19 3026166 3026166 single base substitution C T upstream_gene_variant LIRI-JP 19 3028384 3028386 deletion of <=200bp AGA - splice_region_variant LIRI-JP 19 3028384 3028386 deletion of <=200bp AGA - upstream_gene_variant LIRI-JP 19 3030076 3030076 single base substitution C T intron_variant LIRI-JP 19 3030076 3030076 single base substitution C T upstream_gene_variant LIRI-JP 19 3030650 3030650 single base substitution G T intron_variant LIRI-JP 19 3030650 3030650 single base substitution G T upstream_gene_variant LIRI-JP 19 3031455 3031455 single base substitution C T intron_variant LIRI-JP 19 3031455 3031455 single base substitution C T upstream_gene_variant LIRI-JP 19 3031862 3031862 single base substitution C A intron_variant LIRI-JP 19 3031862 3031862 single base substitution C A upstream_gene_variant LIRI-JP 19 3031951 3031951 single base substitution A G intron_variant LIRI-JP 19 3031951 3031951 single base substitution A G upstream_gene_variant LIRI-JP 19 3035385 3035385 single base substitution T C intron_variant LIRI-JP 19 3036455 3036455 single base substitution G C intron_variant LIRI-JP 19 3044315 3044315 single base substitution G T intron_variant LIRI-JP 19 3044578 3044578 single base substitution C T intron_variant LIRI-JP 19 3045255 3045255 single base substitution G A intron_variant LIRI-JP 19 3051048 3051048 single base substitution T C upstream_gene_variant LIRI-JP 19 3051230 3051230 single base substitution T C upstream_gene_variant LUSC-KR 19 2994874 2994874 single base substitution C T downstream_gene_variant LUSC-KR 19 2995121 2995121 single base substitution C G downstream_gene_variant LUSC-KR 19 3001264 3001264 single base substitution C G downstream_gene_variant LUSC-KR 19 3001264 3001264 single base substitution C G intron_variant LUSC-KR 19 3005369 3005369 single base substitution C T downstream_gene_variant LUSC-KR 19 3005369 3005369 single base substitution C T intron_variant LUSC-KR 19 3006468 3006468 single base substitution C A downstream_gene_variant LUSC-KR 19 3006468 3006468 single base substitution C A intron_variant LUSC-KR 19 3006468 3006468 single base substitution C A missense_variant D132Y 394G>T LUSC-KR 19 3006468 3006468 single base substitution C A missense_variant D151Y 451G>T LUSC-KR 19 3006468 3006468 single base substitution C A missense_variant D362Y 1084G>T LUSC-KR 19 3006468 3006468 single base substitution C A missense_variant D484Y 1450G>T LUSC-KR 19 3006468 3006468 single base substitution C A missense_variant D485Y 1453G>T LUSC-KR 19 3006468 3006468 single base substitution C A missense_variant D498Y 1492G>T LUSC-KR 19 3006468 3006468 single base substitution C A splice_region_variant LUSC-KR 19 3009680 3009680 single base substitution G C downstream_gene_variant LUSC-KR 19 3009680 3009680 single base substitution G C exon_variant LUSC-KR 19 3009680 3009680 single base substitution G C intron_variant LUSC-KR 19 3009680 3009680 single base substitution G C missense_variant L223V 667C>G LUSC-KR 19 3009680 3009680 single base substitution G C missense_variant L345V 1033C>G LUSC-KR 19 3009680 3009680 single base substitution G C missense_variant L346V 1036C>G LUSC-KR 19 3009680 3009680 single base substitution G C missense_variant L359V 1075C>G LUSC-KR 19 3009680 3009680 single base substitution G C upstream_gene_variant LUSC-KR 19 3014647 3014647 single base substitution C A downstream_gene_variant LUSC-KR 19 3014647 3014647 single base substitution C A intron_variant LUSC-KR 19 3014776 3014776 single base substitution C A downstream_gene_variant LUSC-KR 19 3014776 3014776 single base substitution C A intron_variant LUSC-KR 19 3015847 3015847 single base substitution C A downstream_gene_variant LUSC-KR 19 3015847 3015847 single base substitution C A intron_variant LUSC-KR 19 3017233 3017233 single base substitution C A downstream_gene_variant LUSC-KR 19 3017233 3017233 single base substitution C A intron_variant LUSC-KR 19 3026339 3026339 single base substitution G A intron_variant LUSC-KR 19 3026339 3026339 single base substitution G A upstream_gene_variant LUSC-KR 19 3030625 3030625 single base substitution G C intron_variant LUSC-KR 19 3030625 3030625 single base substitution G C upstream_gene_variant LUSC-KR 19 3032952 3032952 single base substitution G T intron_variant LUSC-KR 19 3032952 3032952 single base substitution G T upstream_gene_variant LUSC-KR 19 3035407 3035407 single base substitution C A intron_variant LUSC-KR 19 3036001 3036001 single base substitution G A intron_variant LUSC-KR 19 3036007 3036007 single base substitution G A intron_variant LUSC-KR 19 3037178 3037178 single base substitution G T intron_variant LUSC-KR 19 3037270 3037270 single base substitution G C intron_variant LUSC-KR 19 3040948 3040948 single base substitution C A intron_variant LUSC-KR 19 3042734 3042734 single base substitution T C intron_variant LUSC-KR 19 3047143 3047143 single base substitution C A intron_variant LUSC-KR 19 3047143 3047143 single base substitution C A upstream_gene_variant LUSC-KR 19 3048137 3048137 single base substitution G A upstream_gene_variant LUSC-US 19 3005560 3005560 single base substitution C T downstream_gene_variant LUSC-US 19 3005560 3005560 single base substitution C T intron_variant LUSC-US 19 3005560 3005560 single base substitution C T missense_variant G239S 715G>A LUSC-US 19 3005560 3005560 single base substitution C T missense_variant G258S 772G>A LUSC-US 19 3005560 3005560 single base substitution C T missense_variant G469S 1405G>A LUSC-US 19 3005560 3005560 single base substitution C T missense_variant G591S 1771G>A LUSC-US 19 3005560 3005560 single base substitution C T missense_variant G592S 1774G>A LUSC-US 19 3005560 3005560 single base substitution C T missense_variant G605S 1813G>A LUSC-US 19 3006571 3006571 single base substitution C A downstream_gene_variant LUSC-US 19 3006571 3006571 single base substitution C A exon_variant LUSC-US 19 3006571 3006571 single base substitution C A intron_variant LUSC-US 19 3006571 3006571 single base substitution C A synonymous_variant R116R 348G>T LUSC-US 19 3006571 3006571 single base substitution C A synonymous_variant R327R 981G>T LUSC-US 19 3006571 3006571 single base substitution C A synonymous_variant R449R 1347G>T LUSC-US 19 3006571 3006571 single base substitution C A synonymous_variant R450R 1350G>T LUSC-US 19 3006571 3006571 single base substitution C A synonymous_variant R463R 1389G>T LUSC-US 19 3006571 3006571 single base substitution C A synonymous_variant R97R 291G>T LUSC-US 19 3006572 3006572 single base substitution C G downstream_gene_variant LUSC-US 19 3006572 3006572 single base substitution C G exon_variant LUSC-US 19 3006572 3006572 single base substitution C G intron_variant LUSC-US 19 3006572 3006572 single base substitution C G missense_variant R116P 347G>C LUSC-US 19 3006572 3006572 single base substitution C G missense_variant R327P 980G>C LUSC-US 19 3006572 3006572 single base substitution C G missense_variant R449P 1346G>C LUSC-US 19 3006572 3006572 single base substitution C G missense_variant R450P 1349G>C LUSC-US 19 3006572 3006572 single base substitution C G missense_variant R463P 1388G>C LUSC-US 19 3006572 3006572 single base substitution C G missense_variant R97P 290G>C LUSC-US 19 3028720 3028720 single base substitution G A 5_prime_UTR_variant LUSC-US 19 3028720 3028720 single base substitution G A exon_variant LUSC-US 19 3028720 3028720 single base substitution G A stop_gained Q29* 85C>T LUSC-US 19 3028720 3028720 single base substitution G A stop_gained Q36* 106C>T LUSC-US 19 3028720 3028720 single base substitution G A stop_gained Q49* 145C>T LUSC-US 19 3028720 3028720 single base substitution G A upstream_gene_variant MALY-DE 19 2996203 2996203 single base substitution A C downstream_gene_variant MALY-DE 19 3011381 3011381 single base substitution T G downstream_gene_variant MALY-DE 19 3011381 3011381 single base substitution T G intron_variant MALY-DE 19 3011381 3011381 single base substitution T G upstream_gene_variant MALY-DE 19 3016079 3016079 single base substitution C T downstream_gene_variant MALY-DE 19 3016079 3016079 single base substitution C T intron_variant MALY-DE 19 3019310 3019310 single base substitution C T 5_prime_UTR_premature_start_codon_gain_variant MALY-DE 19 3019310 3019310 single base substitution C T downstream_gene_variant MALY-DE 19 3019310 3019310 single base substitution C T exon_variant MALY-DE 19 3019310 3019310 single base substitution C T intron_variant MALY-DE 19 3019310 3019310 single base substitution C T missense_variant R174H 521G>A MALY-DE 19 3019310 3019310 single base substitution C T missense_variant R175H 524G>A MALY-DE 19 3019310 3019310 single base substitution C T missense_variant R188H 563G>A MALY-DE 19 3022540 3022540 single base substitution A T intron_variant MALY-DE 19 3022540 3022540 single base substitution A T upstream_gene_variant MALY-DE 19 3024826 3024826 single base substitution C T intron_variant MALY-DE 19 3024826 3024826 single base substitution C T upstream_gene_variant MALY-DE 19 3034905 3034905 single base substitution A C intron_variant MALY-DE 19 3038384 3038384 single base substitution A T intron_variant MALY-DE 19 3040356 3040356 single base substitution T C intron_variant MELA-AU 19 2993283 2993283 single base substitution C T downstream_gene_variant MELA-AU 19 2994190 2994190 single base substitution G A downstream_gene_variant MELA-AU 19 2994266 2994266 single base substitution G A downstream_gene_variant MELA-AU 19 2994668 2994668 insertion of <=200bp - G downstream_gene_variant MELA-AU 19 2995008 2995008 single base substitution C T downstream_gene_variant MELA-AU 19 2995060 2995060 insertion of <=200bp - CT downstream_gene_variant MELA-AU 19 2995256 2995256 single base substitution G A downstream_gene_variant MELA-AU 19 2995879 2995879 single base substitution T A downstream_gene_variant MELA-AU 19 2996213 2996213 single base substitution T G downstream_gene_variant MELA-AU 19 2996215 2996215 single base substitution C T downstream_gene_variant MELA-AU 19 2996242 2996242 single base substitution G A downstream_gene_variant MELA-AU 19 2996243 2996243 single base substitution G A downstream_gene_variant MELA-AU 19 2996275 2996275 single base substitution G A downstream_gene_variant MELA-AU 19 2996276 2996276 single base substitution G A downstream_gene_variant MELA-AU 19 2996406 2996406 single base substitution C T downstream_gene_variant MELA-AU 19 2996564 2996564 single base substitution G A downstream_gene_variant MELA-AU 19 2997093 2997093 single base substitution G A downstream_gene_variant MELA-AU 19 2997279 2997279 single base substitution C T downstream_gene_variant MELA-AU 19 2997439 2997439 single base substitution C T downstream_gene_variant MELA-AU 19 2997829 2997829 single base substitution G A 3_prime_UTR_variant MELA-AU 19 2997829 2997829 single base substitution G A downstream_gene_variant MELA-AU 19 2997829 2997829 single base substitution G A intron_variant MELA-AU 19 2997886 2997886 single base substitution G A 3_prime_UTR_variant MELA-AU 19 2997886 2997886 single base substitution G A downstream_gene_variant MELA-AU 19 2997886 2997886 single base substitution G A intron_variant MELA-AU 19 2997886 2997886 single base substitution G A missense_variant S398L 1193C>T MELA-AU 19 2997886 2997886 single base substitution G A missense_variant S609L 1826C>T MELA-AU 19 2997886 2997886 single base substitution G A missense_variant S731L 2192C>T MELA-AU 19 2997886 2997886 single base substitution G A missense_variant S732L 2195C>T MELA-AU 19 2998471 2998471 single base substitution T C intron_variant MELA-AU 19 2998898 2998898 single base substitution G A intron_variant MELA-AU 19 2999072 2999072 single base substitution G A intron_variant MELA-AU 19 2999508 2999508 single base substitution G A intron_variant MELA-AU 19 2999617 2999617 single base substitution C T intron_variant MELA-AU 19 2999791 2999791 single base substitution G A intron_variant MELA-AU 19 2999834 2999834 single base substitution C T intron_variant MELA-AU 19 2999873 2999873 single base substitution A T intron_variant MELA-AU 19 3000126 3000126 single base substitution G T intron_variant MELA-AU 19 3000164 3000164 single base substitution G A intron_variant MELA-AU 19 3000373 3000373 single base substitution G A intron_variant MELA-AU 19 3000502 3000502 single base substitution G A downstream_gene_variant MELA-AU 19 3000502 3000502 single base substitution G A intron_variant MELA-AU 19 3000522 3000522 single base substitution C T downstream_gene_variant MELA-AU 19 3000522 3000522 single base substitution C T intron_variant MELA-AU 19 3000668 3000668 single base substitution G A downstream_gene_variant MELA-AU 19 3000668 3000668 single base substitution G A intron_variant MELA-AU 19 3000668 3000668 single base substitution G A missense_variant P368S 1102C>T MELA-AU 19 3000668 3000668 single base substitution G A missense_variant P579S 1735C>T MELA-AU 19 3000668 3000668 single base substitution G A missense_variant P701S 2101C>T MELA-AU 19 3000668 3000668 single base substitution G A missense_variant P702S 2104C>T MELA-AU 19 3000696 3000696 single base substitution C T downstream_gene_variant MELA-AU 19 3000696 3000696 single base substitution C T intron_variant MELA-AU 19 3000696 3000696 single base substitution C T synonymous_variant K358K 1074G>A MELA-AU 19 3000696 3000696 single base substitution C T synonymous_variant K569K 1707G>A MELA-AU 19 3000696 3000696 single base substitution C T synonymous_variant K691K 2073G>A MELA-AU 19 3000696 3000696 single base substitution C T synonymous_variant K692K 2076G>A MELA-AU 19 3000728 3000728 single base substitution G A downstream_gene_variant MELA-AU 19 3000728 3000728 single base substitution G A intron_variant MELA-AU 19 3000728 3000728 single base substitution G A splice_region_variant MELA-AU 19 3001085 3001085 single base substitution A G downstream_gene_variant MELA-AU 19 3001085 3001085 single base substitution A G intron_variant MELA-AU 19 3001825 3001825 single base substitution C T downstream_gene_variant MELA-AU 19 3001825 3001825 single base substitution C T intron_variant MELA-AU 19 3002171 3002171 single base substitution T C downstream_gene_variant MELA-AU 19 3002171 3002171 single base substitution T C intron_variant MELA-AU 19 3002324 3002324 single base substitution C T downstream_gene_variant MELA-AU 19 3002324 3002324 single base substitution C T intron_variant MELA-AU 19 3002516 3002516 single base substitution G A downstream_gene_variant MELA-AU 19 3002516 3002516 single base substitution G A intron_variant MELA-AU 19 3002533 3002533 single base substitution G A downstream_gene_variant MELA-AU 19 3002533 3002533 single base substitution G A intron_variant MELA-AU 19 3003217 3003217 single base substitution G A downstream_gene_variant MELA-AU 19 3003217 3003217 single base substitution G A intron_variant MELA-AU 19 3003360 3003360 single base substitution G A downstream_gene_variant MELA-AU 19 3003360 3003360 single base substitution G A intron_variant MELA-AU 19 3004239 3004239 single base substitution C T downstream_gene_variant MELA-AU 19 3004239 3004239 single base substitution C T intron_variant MELA-AU 19 3004356 3004356 single base substitution G A downstream_gene_variant MELA-AU 19 3004356 3004356 single base substitution G A intron_variant MELA-AU 19 3004993 3004993 single base substitution G A downstream_gene_variant MELA-AU 19 3004993 3004993 single base substitution G A intron_variant MELA-AU 19 3005373 3005373 single base substitution G A downstream_gene_variant MELA-AU 19 3005373 3005373 single base substitution G A intron_variant MELA-AU 19 3005589 3005590 multiple base substitution (>=2bp and <=200bp) GG AA downstream_gene_variant MELA-AU 19 3005589 3005590 multiple base substitution (>=2bp and <=200bp) GG AA intron_variant MELA-AU 19 3005589 3005590 multiple base substitution (>=2bp and <=200bp) GG AA splice_region_variant MELA-AU 19 3005612 3005612 single base substitution C T downstream_gene_variant MELA-AU 19 3005612 3005612 single base substitution C T intron_variant MELA-AU 19 3005636 3005636 single base substitution C T downstream_gene_variant MELA-AU 19 3005636 3005636 single base substitution C T intron_variant MELA-AU 19 3005656 3005656 single base substitution C T downstream_gene_variant MELA-AU 19 3005656 3005656 single base substitution C T intron_variant MELA-AU 19 3005716 3005716 single base substitution C T downstream_gene_variant MELA-AU 19 3005716 3005716 single base substitution C T intron_variant MELA-AU 19 3005716 3005716 single base substitution C T splice_region_variant MELA-AU 19 3005787 3005787 single base substitution C T downstream_gene_variant MELA-AU 19 3005787 3005787 single base substitution C T intron_variant MELA-AU 19 3005787 3005787 single base substitution C T synonymous_variant K208K 624G>A MELA-AU 19 3005787 3005787 single base substitution C T synonymous_variant K227K 681G>A MELA-AU 19 3005787 3005787 single base substitution C T synonymous_variant K438K 1314G>A MELA-AU 19 3005787 3005787 single base substitution C T synonymous_variant K560K 1680G>A MELA-AU 19 3005787 3005787 single base substitution C T synonymous_variant K561K 1683G>A MELA-AU 19 3005787 3005787 single base substitution C T synonymous_variant K574K 1722G>A MELA-AU 19 3005907 3005907 single base substitution C T downstream_gene_variant MELA-AU 19 3005907 3005907 single base substitution C T exon_variant MELA-AU 19 3005907 3005907 single base substitution C T intron_variant MELA-AU 19 3005907 3005907 single base substitution C T synonymous_variant V168V 504G>A MELA-AU 19 3005907 3005907 single base substitution C T synonymous_variant V187V 561G>A MELA-AU 19 3005907 3005907 single base substitution C T synonymous_variant V398V 1194G>A MELA-AU 19 3005907 3005907 single base substitution C T synonymous_variant V520V 1560G>A MELA-AU 19 3005907 3005907 single base substitution C T synonymous_variant V521V 1563G>A MELA-AU 19 3005907 3005907 single base substitution C T synonymous_variant V534V 1602G>A MELA-AU 19 3005960 3005960 single base substitution C T downstream_gene_variant MELA-AU 19 3005960 3005960 single base substitution C T exon_variant MELA-AU 19 3005960 3005960 single base substitution C T intron_variant MELA-AU 19 3005960 3005960 single base substitution C T missense_variant D151N 451G>A MELA-AU 19 3005960 3005960 single base substitution C T missense_variant D170N 508G>A MELA-AU 19 3005960 3005960 single base substitution C T missense_variant D381N 1141G>A MELA-AU 19 3005960 3005960 single base substitution C T missense_variant D503N 1507G>A MELA-AU 19 3005960 3005960 single base substitution C T missense_variant D504N 1510G>A MELA-AU 19 3005960 3005960 single base substitution C T missense_variant D517N 1549G>A MELA-AU 19 3006155 3006155 single base substitution C T downstream_gene_variant MELA-AU 19 3006155 3006155 single base substitution C T intron_variant MELA-AU 19 3006197 3006197 single base substitution C T downstream_gene_variant MELA-AU 19 3006197 3006197 single base substitution C T intron_variant MELA-AU 19 3006309 3006309 insertion of <=200bp - CC downstream_gene_variant MELA-AU 19 3006309 3006309 insertion of <=200bp - CC intron_variant MELA-AU 19 3006639 3006639 single base substitution C T downstream_gene_variant MELA-AU 19 3006639 3006639 single base substitution C T exon_variant MELA-AU 19 3006639 3006639 single base substitution C T intron_variant MELA-AU 19 3006639 3006639 single base substitution C T missense_variant G305R 913G>A MELA-AU 19 3006639 3006639 single base substitution C T missense_variant G427R 1279G>A MELA-AU 19 3006639 3006639 single base substitution C T missense_variant G428R 1282G>A MELA-AU 19 3006639 3006639 single base substitution C T missense_variant G441R 1321G>A MELA-AU 19 3006639 3006639 single base substitution C T missense_variant G75R 223G>A MELA-AU 19 3006639 3006639 single base substitution C T missense_variant G94R 280G>A MELA-AU 19 3006725 3006725 single base substitution C T downstream_gene_variant MELA-AU 19 3006725 3006725 single base substitution C T intron_variant MELA-AU 19 3006738 3006738 single base substitution G A downstream_gene_variant MELA-AU 19 3006738 3006738 single base substitution G A intron_variant MELA-AU 19 3007257 3007257 single base substitution T G downstream_gene_variant MELA-AU 19 3007257 3007257 single base substitution T G intron_variant MELA-AU 19 3007260 3007260 single base substitution G T downstream_gene_variant MELA-AU 19 3007260 3007260 single base substitution G T intron_variant MELA-AU 19 3007473 3007473 single base substitution C T downstream_gene_variant MELA-AU 19 3007473 3007473 single base substitution C T intron_variant MELA-AU 19 3007558 3007558 single base substitution G A downstream_gene_variant MELA-AU 19 3007558 3007558 single base substitution G A intron_variant MELA-AU 19 3007623 3007623 single base substitution G A downstream_gene_variant MELA-AU 19 3007623 3007623 single base substitution G A intron_variant MELA-AU 19 3007738 3007738 single base substitution G A downstream_gene_variant MELA-AU 19 3007738 3007738 single base substitution G A intron_variant MELA-AU 19 3007800 3007800 single base substitution C T downstream_gene_variant MELA-AU 19 3007800 3007800 single base substitution C T intron_variant MELA-AU 19 3007994 3007994 single base substitution C T downstream_gene_variant MELA-AU 19 3007994 3007994 single base substitution C T intron_variant MELA-AU 19 3009116 3009116 single base substitution G A downstream_gene_variant MELA-AU 19 3009116 3009116 single base substitution G A intron_variant MELA-AU 19 3009116 3009116 single base substitution G A upstream_gene_variant MELA-AU 19 3009150 3009150 single base substitution C T downstream_gene_variant MELA-AU 19 3009150 3009150 single base substitution C T intron_variant MELA-AU 19 3009150 3009150 single base substitution C T upstream_gene_variant MELA-AU 19 3009518 3009518 single base substitution G A downstream_gene_variant MELA-AU 19 3009518 3009518 single base substitution G A intron_variant MELA-AU 19 3009518 3009518 single base substitution G A upstream_gene_variant MELA-AU 19 3009642 3009642 single base substitution G A downstream_gene_variant MELA-AU 19 3009642 3009642 single base substitution G A exon_variant MELA-AU 19 3009642 3009642 single base substitution G A intron_variant MELA-AU 19 3009642 3009642 single base substitution G A synonymous_variant S235S 705C>T MELA-AU 19 3009642 3009642 single base substitution G A synonymous_variant S357S 1071C>T MELA-AU 19 3009642 3009642 single base substitution G A synonymous_variant S358S 1074C>T MELA-AU 19 3009642 3009642 single base substitution G A synonymous_variant S371S 1113C>T MELA-AU 19 3009642 3009642 single base substitution G A upstream_gene_variant MELA-AU 19 3009871 3009871 single base substitution G A downstream_gene_variant MELA-AU 19 3009871 3009871 single base substitution G A intron_variant MELA-AU 19 3009871 3009871 single base substitution G A upstream_gene_variant MELA-AU 19 3010146 3010146 single base substitution G A downstream_gene_variant MELA-AU 19 3010146 3010146 single base substitution G A intron_variant MELA-AU 19 3010146 3010146 single base substitution G A upstream_gene_variant MELA-AU 19 3010257 3010257 single base substitution G A downstream_gene_variant MELA-AU 19 3010257 3010257 single base substitution G A intron_variant MELA-AU 19 3010257 3010257 single base substitution G A upstream_gene_variant MELA-AU 19 3010568 3010568 single base substitution C T downstream_gene_variant MELA-AU 19 3010568 3010568 single base substitution C T intron_variant MELA-AU 19 3010568 3010568 single base substitution C T upstream_gene_variant MELA-AU 19 3010771 3010771 single base substitution C T downstream_gene_variant MELA-AU 19 3010771 3010771 single base substitution C T intron_variant MELA-AU 19 3010771 3010771 single base substitution C T upstream_gene_variant MELA-AU 19 3010878 3010878 single base substitution G A downstream_gene_variant MELA-AU 19 3010878 3010878 single base substitution G A intron_variant MELA-AU 19 3010878 3010878 single base substitution G A upstream_gene_variant MELA-AU 19 3010913 3010913 single base substitution G A downstream_gene_variant MELA-AU 19 3010913 3010913 single base substitution G A intron_variant MELA-AU 19 3010913 3010913 single base substitution G A upstream_gene_variant MELA-AU 19 3011224 3011224 single base substitution C T downstream_gene_variant MELA-AU 19 3011224 3011224 single base substitution C T intron_variant MELA-AU 19 3011224 3011224 single base substitution C T upstream_gene_variant MELA-AU 19 3012244 3012244 single base substitution C T downstream_gene_variant MELA-AU 19 3012244 3012244 single base substitution C T intron_variant MELA-AU 19 3012244 3012244 single base substitution C T upstream_gene_variant MELA-AU 19 3012449 3012449 single base substitution G A downstream_gene_variant MELA-AU 19 3012449 3012449 single base substitution G A intron_variant MELA-AU 19 3012449 3012449 single base substitution G A upstream_gene_variant MELA-AU 19 3012632 3012632 single base substitution C T downstream_gene_variant MELA-AU 19 3012632 3012632 single base substitution C T intron_variant MELA-AU 19 3012632 3012632 single base substitution C T upstream_gene_variant MELA-AU 19 3012665 3012666 multiple base substitution (>=2bp and <=200bp) CC TT downstream_gene_variant MELA-AU 19 3012665 3012666 multiple base substitution (>=2bp and <=200bp) CC TT intron_variant MELA-AU 19 3012665 3012666 multiple base substitution (>=2bp and <=200bp) CC TT upstream_gene_variant MELA-AU 19 3013045 3013045 single base substitution G A downstream_gene_variant MELA-AU 19 3013045 3013045 single base substitution G A intron_variant MELA-AU 19 3013045 3013045 single base substitution G A upstream_gene_variant MELA-AU 19 3013256 3013256 single base substitution C T downstream_gene_variant MELA-AU 19 3013256 3013256 single base substitution C T intron_variant MELA-AU 19 3013256 3013256 single base substitution C T upstream_gene_variant MELA-AU 19 3013400 3013400 single base substitution A T downstream_gene_variant MELA-AU 19 3013400 3013400 single base substitution A T intron_variant MELA-AU 19 3013400 3013400 single base substitution A T upstream_gene_variant MELA-AU 19 3013440 3013440 single base substitution A G downstream_gene_variant MELA-AU 19 3013440 3013440 single base substitution A G intron_variant MELA-AU 19 3013440 3013440 single base substitution A G upstream_gene_variant MELA-AU 19 3013511 3013511 single base substitution G A downstream_gene_variant MELA-AU 19 3013511 3013511 single base substitution G A intron_variant MELA-AU 19 3013511 3013511 single base substitution G A upstream_gene_variant MELA-AU 19 3013755 3013755 single base substitution A G 5_prime_UTR_variant MELA-AU 19 3013755 3013755 single base substitution A G downstream_gene_variant MELA-AU 19 3013755 3013755 single base substitution A G exon_variant MELA-AU 19 3013755 3013755 single base substitution A G intron_variant MELA-AU 19 3013755 3013755 single base substitution A G missense_variant I140T 419T>C MELA-AU 19 3013755 3013755 single base substitution A G missense_variant I262T 785T>C MELA-AU 19 3013755 3013755 single base substitution A G missense_variant I263T 788T>C MELA-AU 19 3013755 3013755 single base substitution A G missense_variant I276T 827T>C MELA-AU 19 3013755 3013755 single base substitution A G upstream_gene_variant MELA-AU 19 3013860 3013860 single base substitution G A downstream_gene_variant MELA-AU 19 3013860 3013860 single base substitution G A intron_variant MELA-AU 19 3013860 3013860 single base substitution G A upstream_gene_variant MELA-AU 19 3014055 3014055 single base substitution C T downstream_gene_variant MELA-AU 19 3014055 3014055 single base substitution C T intron_variant MELA-AU 19 3014074 3014074 single base substitution T C downstream_gene_variant MELA-AU 19 3014074 3014074 single base substitution T C intron_variant MELA-AU 19 3014209 3014209 single base substitution C T downstream_gene_variant MELA-AU 19 3014209 3014209 single base substitution C T intron_variant MELA-AU 19 3014312 3014312 single base substitution G A downstream_gene_variant MELA-AU 19 3014312 3014312 single base substitution G A intron_variant MELA-AU 19 3014327 3014327 single base substitution G A downstream_gene_variant MELA-AU 19 3014327 3014327 single base substitution G A intron_variant MELA-AU 19 3014420 3014420 single base substitution G T downstream_gene_variant MELA-AU 19 3014420 3014420 single base substitution G T intron_variant MELA-AU 19 3014666 3014666 single base substitution C T downstream_gene_variant MELA-AU 19 3014666 3014666 single base substitution C T intron_variant MELA-AU 19 3014828 3014828 single base substitution G A downstream_gene_variant MELA-AU 19 3014828 3014828 single base substitution G A intron_variant MELA-AU 19 3014844 3014844 single base substitution G A downstream_gene_variant MELA-AU 19 3014844 3014844 single base substitution G A intron_variant MELA-AU 19 3015050 3015050 single base substitution C T downstream_gene_variant MELA-AU 19 3015050 3015050 single base substitution C T intron_variant MELA-AU 19 3015251 3015251 single base substitution T C downstream_gene_variant MELA-AU 19 3015251 3015251 single base substitution T C intron_variant MELA-AU 19 3015591 3015591 single base substitution G A downstream_gene_variant MELA-AU 19 3015591 3015591 single base substitution G A intron_variant MELA-AU 19 3015783 3015783 single base substitution G A downstream_gene_variant MELA-AU 19 3015783 3015783 single base substitution G A intron_variant MELA-AU 19 3015825 3015825 single base substitution C T downstream_gene_variant MELA-AU 19 3015825 3015825 single base substitution C T intron_variant MELA-AU 19 3015877 3015877 single base substitution C T downstream_gene_variant MELA-AU 19 3015877 3015877 single base substitution C T intron_variant MELA-AU 19 3015931 3015931 single base substitution T G downstream_gene_variant MELA-AU 19 3015931 3015931 single base substitution T G intron_variant MELA-AU 19 3015958 3015958 single base substitution G A downstream_gene_variant MELA-AU 19 3015958 3015958 single base substitution G A intron_variant MELA-AU 19 3016203 3016203 single base substitution G A downstream_gene_variant MELA-AU 19 3016203 3016203 single base substitution G A intron_variant MELA-AU 19 3017097 3017097 single base substitution G A downstream_gene_variant MELA-AU 19 3017097 3017097 single base substitution G A intron_variant MELA-AU 19 3017261 3017261 single base substitution G A downstream_gene_variant MELA-AU 19 3017261 3017261 single base substitution G A intron_variant MELA-AU 19 3017320 3017320 single base substitution G A downstream_gene_variant MELA-AU 19 3017320 3017320 single base substitution G A intron_variant MELA-AU 19 3017512 3017512 single base substitution G A downstream_gene_variant MELA-AU 19 3017512 3017512 single base substitution G A intron_variant MELA-AU 19 3017845 3017846 multiple base substitution (>=2bp and <=200bp) GG AA 5_prime_UTR_variant MELA-AU 19 3017845 3017846 multiple base substitution (>=2bp and <=200bp) GG AA downstream_gene_variant MELA-AU 19 3017845 3017846 multiple base substitution (>=2bp and <=200bp) GG AA exon_variant MELA-AU 19 3017845 3017846 multiple base substitution (>=2bp and <=200bp) GG AA intron_variant MELA-AU 19 3017845 3017846 multiple base substitution (>=2bp and <=200bp) GG AA missense_variant P188L 562CC>TT MELA-AU 19 3017845 3017846 multiple base substitution (>=2bp and <=200bp) GG AA missense_variant P189L 565CC>TT MELA-AU 19 3017845 3017846 multiple base substitution (>=2bp and <=200bp) GG AA missense_variant P202L 604CC>TT MELA-AU 19 3018694 3018695 multiple base substitution (>=2bp and <=200bp) CC TT downstream_gene_variant MELA-AU 19 3018694 3018695 multiple base substitution (>=2bp and <=200bp) CC TT intron_variant MELA-AU 19 3018772 3018772 single base substitution C T downstream_gene_variant MELA-AU 19 3018772 3018772 single base substitution C T intron_variant MELA-AU 19 3019227 3019227 single base substitution C T downstream_gene_variant MELA-AU 19 3019227 3019227 single base substitution C T intron_variant MELA-AU 19 3019441 3019441 single base substitution G A 5_prime_UTR_variant MELA-AU 19 3019441 3019441 single base substitution G A downstream_gene_variant MELA-AU 19 3019441 3019441 single base substitution G A exon_variant MELA-AU 19 3019441 3019441 single base substitution G A intron_variant MELA-AU 19 3019441 3019441 single base substitution G A synonymous_variant S130S 390C>T MELA-AU 19 3019441 3019441 single base substitution G A synonymous_variant S131S 393C>T MELA-AU 19 3019441 3019441 single base substitution G A synonymous_variant S144S 432C>T MELA-AU 19 3019441 3019441 single base substitution G A synonymous_variant S75S 225C>T MELA-AU 19 3019441 3019441 single base substitution G A upstream_gene_variant MELA-AU 19 3019479 3019479 single base substitution G A 5_prime_UTR_premature_start_codon_gain_variant MELA-AU 19 3019479 3019479 single base substitution G A downstream_gene_variant MELA-AU 19 3019479 3019479 single base substitution G A exon_variant MELA-AU 19 3019479 3019479 single base substitution G A intron_variant MELA-AU 19 3019479 3019479 single base substitution G A upstream_gene_variant MELA-AU 19 3019628 3019628 single base substitution C T 5_prime_UTR_variant MELA-AU 19 3019628 3019628 single base substitution C T downstream_gene_variant MELA-AU 19 3019628 3019628 single base substitution C T exon_variant MELA-AU 19 3019628 3019628 single base substitution C T intron_variant MELA-AU 19 3019628 3019628 single base substitution C T upstream_gene_variant MELA-AU 19 3019869 3019869 deletion of <=200bp T - intron_variant MELA-AU 19 3019869 3019869 deletion of <=200bp T - upstream_gene_variant MELA-AU 19 3020161 3020161 single base substitution G A exon_variant MELA-AU 19 3020161 3020161 single base substitution G A intron_variant MELA-AU 19 3020161 3020161 single base substitution G A upstream_gene_variant MELA-AU 19 3020167 3020167 single base substitution G A exon_variant MELA-AU 19 3020167 3020167 single base substitution G A intron_variant MELA-AU 19 3020167 3020167 single base substitution G A upstream_gene_variant MELA-AU 19 3020725 3020726 multiple base substitution (>=2bp and <=200bp) CC TT intron_variant MELA-AU 19 3020725 3020726 multiple base substitution (>=2bp and <=200bp) CC TT upstream_gene_variant MELA-AU 19 3020819 3020819 single base substitution C T intron_variant MELA-AU 19 3020819 3020819 single base substitution C T upstream_gene_variant MELA-AU 19 3021074 3021074 single base substitution G A intron_variant MELA-AU 19 3021074 3021074 single base substitution G A upstream_gene_variant MELA-AU 19 3021286 3021286 single base substitution C T intron_variant MELA-AU 19 3021286 3021286 single base substitution C T upstream_gene_variant MELA-AU 19 3021333 3021333 single base substitution T C intron_variant MELA-AU 19 3021333 3021333 single base substitution T C upstream_gene_variant MELA-AU 19 3021443 3021443 single base substitution C T intron_variant MELA-AU 19 3021443 3021443 single base substitution C T upstream_gene_variant MELA-AU 19 3022172 3022172 single base substitution G A intron_variant MELA-AU 19 3022172 3022172 single base substitution G A upstream_gene_variant MELA-AU 19 3022530 3022530 single base substitution A G intron_variant MELA-AU 19 3022530 3022530 single base substitution A G upstream_gene_variant MELA-AU 19 3022697 3022697 single base substitution A C intron_variant MELA-AU 19 3022697 3022697 single base substitution A C upstream_gene_variant MELA-AU 19 3022837 3022838 multiple base substitution (>=2bp and <=200bp) CC TT intron_variant MELA-AU 19 3022837 3022838 multiple base substitution (>=2bp and <=200bp) CC TT upstream_gene_variant MELA-AU 19 3023040 3023040 single base substitution T A intron_variant MELA-AU 19 3023040 3023040 single base substitution T A upstream_gene_variant MELA-AU 19 3023505 3023505 single base substitution G A intron_variant MELA-AU 19 3023505 3023505 single base substitution G A upstream_gene_variant MELA-AU 19 3023543 3023543 single base substitution C T intron_variant MELA-AU 19 3023543 3023543 single base substitution C T upstream_gene_variant MELA-AU 19 3023662 3023662 single base substitution G A intron_variant MELA-AU 19 3023662 3023662 single base substitution G A upstream_gene_variant MELA-AU 19 3024224 3024224 single base substitution G A intron_variant MELA-AU 19 3024224 3024224 single base substitution G A upstream_gene_variant MELA-AU 19 3024987 3024987 single base substitution C T intron_variant MELA-AU 19 3024987 3024987 single base substitution C T upstream_gene_variant MELA-AU 19 3025129 3025129 single base substitution A G exon_variant MELA-AU 19 3025129 3025129 single base substitution A G intron_variant MELA-AU 19 3025129 3025129 single base substitution A G upstream_gene_variant MELA-AU 19 3025210 3025210 single base substitution G A exon_variant MELA-AU 19 3025210 3025210 single base substitution G A intron_variant MELA-AU 19 3025210 3025210 single base substitution G A upstream_gene_variant MELA-AU 19 3025328 3025328 single base substitution G A exon_variant MELA-AU 19 3025328 3025328 single base substitution G A intron_variant MELA-AU 19 3025328 3025328 single base substitution G A upstream_gene_variant MELA-AU 19 3025704 3025704 single base substitution G A intron_variant MELA-AU 19 3025704 3025704 single base substitution G A upstream_gene_variant MELA-AU 19 3025896 3025896 single base substitution G A intron_variant MELA-AU 19 3025896 3025896 single base substitution G A upstream_gene_variant MELA-AU 19 3025914 3025914 single base substitution G A intron_variant MELA-AU 19 3025914 3025914 single base substitution G A upstream_gene_variant MELA-AU 19 3025993 3025993 single base substitution C T intron_variant MELA-AU 19 3025993 3025993 single base substitution C T upstream_gene_variant MELA-AU 19 3027138 3027138 single base substitution T A intron_variant MELA-AU 19 3027138 3027138 single base substitution T A upstream_gene_variant MELA-AU 19 3027649 3027649 single base substitution G A intron_variant MELA-AU 19 3027649 3027649 single base substitution G A upstream_gene_variant MELA-AU 19 3027793 3027793 single base substitution C T intron_variant MELA-AU 19 3027793 3027793 single base substitution C T upstream_gene_variant MELA-AU 19 3027983 3027983 single base substitution G A intron_variant MELA-AU 19 3027983 3027983 single base substitution G A upstream_gene_variant MELA-AU 19 3028139 3028139 single base substitution C T intron_variant MELA-AU 19 3028139 3028139 single base substitution C T upstream_gene_variant MELA-AU 19 3028178 3028178 single base substitution G A intron_variant MELA-AU 19 3028178 3028178 single base substitution G A upstream_gene_variant MELA-AU 19 3028288 3028288 single base substitution C T intron_variant MELA-AU 19 3028288 3028288 single base substitution C T upstream_gene_variant MELA-AU 19 3028341 3028341 single base substitution C G 5_prime_UTR_variant MELA-AU 19 3028341 3028341 single base substitution C G exon_variant MELA-AU 19 3028341 3028341 single base substitution C G synonymous_variant T47T 141G>C MELA-AU 19 3028341 3028341 single base substitution C G synonymous_variant T54T 162G>C MELA-AU 19 3028341 3028341 single base substitution C G synonymous_variant T67T 201G>C MELA-AU 19 3028341 3028341 single base substitution C G upstream_gene_variant MELA-AU 19 3029827 3029827 single base substitution C T intron_variant MELA-AU 19 3029827 3029827 single base substitution C T upstream_gene_variant MELA-AU 19 3031067 3031067 single base substitution G A intron_variant MELA-AU 19 3031067 3031067 single base substitution G A upstream_gene_variant MELA-AU 19 3031206 3031206 single base substitution A C intron_variant MELA-AU 19 3031206 3031206 single base substitution A C upstream_gene_variant MELA-AU 19 3031566 3031566 single base substitution G A intron_variant MELA-AU 19 3031566 3031566 single base substitution G A upstream_gene_variant MELA-AU 19 3031761 3031761 single base substitution C T intron_variant MELA-AU 19 3031761 3031761 single base substitution C T upstream_gene_variant MELA-AU 19 3032228 3032228 single base substitution C T intron_variant MELA-AU 19 3032228 3032228 single base substitution C T upstream_gene_variant MELA-AU 19 3033337 3033337 single base substitution T C intron_variant MELA-AU 19 3033337 3033337 single base substitution T C upstream_gene_variant MELA-AU 19 3033381 3033381 single base substitution G A intron_variant MELA-AU 19 3033381 3033381 single base substitution G A upstream_gene_variant MELA-AU 19 3033435 3033435 single base substitution G A intron_variant MELA-AU 19 3033435 3033435 single base substitution G A upstream_gene_variant MELA-AU 19 3033497 3033497 single base substitution A G intron_variant MELA-AU 19 3033497 3033497 single base substitution A G upstream_gene_variant MELA-AU 19 3033603 3033603 single base substitution C T intron_variant MELA-AU 19 3033603 3033603 single base substitution C T upstream_gene_variant MELA-AU 19 3034211 3034211 single base substitution C T intron_variant MELA-AU 19 3034211 3034211 single base substitution C T upstream_gene_variant MELA-AU 19 3034919 3034919 single base substitution G A intron_variant MELA-AU 19 3035133 3035133 single base substitution G A intron_variant MELA-AU 19 3035433 3035433 single base substitution G A intron_variant MELA-AU 19 3035657 3035657 single base substitution G A intron_variant MELA-AU 19 3035683 3035683 single base substitution C T intron_variant MELA-AU 19 3035694 3035694 single base substitution C T intron_variant MELA-AU 19 3035709 3035709 single base substitution G A intron_variant MELA-AU 19 3035709 3035710 multiple base substitution (>=2bp and <=200bp) GG AA intron_variant MELA-AU 19 3035710 3035710 single base substitution G A intron_variant MELA-AU 19 3035737 3035737 single base substitution C T intron_variant MELA-AU 19 3035798 3035798 single base substitution C T intron_variant MELA-AU 19 3036024 3036024 single base substitution C T intron_variant MELA-AU 19 3036150 3036150 single base substitution G A intron_variant MELA-AU 19 3036215 3036216 multiple base substitution (>=2bp and <=200bp) CC TT intron_variant MELA-AU 19 3036294 3036294 single base substitution C T intron_variant MELA-AU 19 3036357 3036357 single base substitution C G intron_variant MELA-AU 19 3036639 3036639 single base substitution C T intron_variant MELA-AU 19 3036883 3036883 single base substitution T C intron_variant MELA-AU 19 3037081 3037081 single base substitution G A intron_variant MELA-AU 19 3037526 3037526 single base substitution G A intron_variant MELA-AU 19 3037814 3037814 single base substitution A C intron_variant MELA-AU 19 3038099 3038099 single base substitution G A intron_variant MELA-AU 19 3038246 3038247 multiple base substitution (>=2bp and <=200bp) CC TT intron_variant MELA-AU 19 3038306 3038306 single base substitution A T intron_variant MELA-AU 19 3038475 3038475 single base substitution T G intron_variant MELA-AU 19 3038630 3038630 single base substitution G A intron_variant MELA-AU 19 3038693 3038693 single base substitution G A intron_variant MELA-AU 19 3038814 3038814 single base substitution G A intron_variant MELA-AU 19 3039128 3039128 single base substitution C A intron_variant MELA-AU 19 3039347 3039347 single base substitution C T intron_variant MELA-AU 19 3039429 3039429 single base substitution G A intron_variant MELA-AU 19 3039562 3039562 single base substitution T C intron_variant MELA-AU 19 3039640 3039640 single base substitution G A intron_variant MELA-AU 19 3039869 3039869 single base substitution C T intron_variant MELA-AU 19 3040003 3040003 single base substitution G T intron_variant MELA-AU 19 3040027 3040027 single base substitution G A intron_variant MELA-AU 19 3041273 3041273 single base substitution C T intron_variant MELA-AU 19 3041295 3041295 single base substitution G A intron_variant MELA-AU 19 3041687 3041687 single base substitution G A intron_variant MELA-AU 19 3042120 3042120 single base substitution C T intron_variant MELA-AU 19 3043197 3043197 single base substitution G A intron_variant MELA-AU 19 3043479 3043479 single base substitution C T intron_variant MELA-AU 19 3043567 3043567 single base substitution G A intron_variant MELA-AU 19 3044222 3044222 single base substitution C T intron_variant MELA-AU 19 3044244 3044244 single base substitution C G intron_variant MELA-AU 19 3044245 3044245 single base substitution C T intron_variant MELA-AU 19 3044246 3044246 single base substitution C T intron_variant MELA-AU 19 3044283 3044283 single base substitution G A intron_variant MELA-AU 19 3044481 3044481 single base substitution G A intron_variant MELA-AU 19 3044884 3044884 single base substitution G A intron_variant MELA-AU 19 3045354 3045354 single base substitution G A intron_variant MELA-AU 19 3045863 3045863 single base substitution C T intron_variant MELA-AU 19 3045863 3045863 single base substitution C T upstream_gene_variant MELA-AU 19 3046578 3046578 insertion of <=200bp - C intron_variant MELA-AU 19 3046578 3046578 insertion of <=200bp - C upstream_gene_variant MELA-AU 19 3046585 3046585 single base substitution C A intron_variant MELA-AU 19 3046585 3046585 single base substitution C A upstream_gene_variant MELA-AU 19 3047396 3047396 single base substitution C T intron_variant MELA-AU 19 3047396 3047396 single base substitution C T upstream_gene_variant MELA-AU 19 3047468 3047468 single base substitution C T intron_variant MELA-AU 19 3047468 3047468 single base substitution C T upstream_gene_variant MELA-AU 19 3047482 3047482 single base substitution C T intron_variant MELA-AU 19 3047482 3047482 single base substitution C T upstream_gene_variant MELA-AU 19 3047795 3047795 single base substitution C T upstream_gene_variant MELA-AU 19 3048594 3048594 single base substitution A G upstream_gene_variant MELA-AU 19 3048695 3048695 single base substitution T C upstream_gene_variant MELA-AU 19 3049288 3049288 single base substitution G A upstream_gene_variant MELA-AU 19 3050189 3050189 single base substitution C T upstream_gene_variant MELA-AU 19 3051217 3051217 single base substitution C T upstream_gene_variant MELA-AU 19 3051228 3051228 single base substitution C T upstream_gene_variant MELA-AU 19 3051800 3051800 single base substitution C T upstream_gene_variant MELA-AU 19 3052329 3052329 single base substitution G A upstream_gene_variant MELA-AU 19 3052501 3052502 multiple base substitution (>=2bp and <=200bp) GG AA upstream_gene_variant ORCA-IN 19 2993131 2993131 single base substitution C A downstream_gene_variant ORCA-IN 19 3005787 3005787 single base substitution C T downstream_gene_variant ORCA-IN 19 3005787 3005787 single base substitution C T intron_variant ORCA-IN 19 3005787 3005787 single base substitution C T synonymous_variant K208K 624G>A ORCA-IN 19 3005787 3005787 single base substitution C T synonymous_variant K227K 681G>A ORCA-IN 19 3005787 3005787 single base substitution C T synonymous_variant K438K 1314G>A ORCA-IN 19 3005787 3005787 single base substitution C T synonymous_variant K560K 1680G>A ORCA-IN 19 3005787 3005787 single base substitution C T synonymous_variant K561K 1683G>A ORCA-IN 19 3005787 3005787 single base substitution C T synonymous_variant K574K 1722G>A ORCA-IN 19 3005858 3005858 single base substitution G A downstream_gene_variant ORCA-IN 19 3005858 3005858 single base substitution G A exon_variant ORCA-IN 19 3005858 3005858 single base substitution G A intron_variant ORCA-IN 19 3005858 3005858 single base substitution G A missense_variant P185S 553C>T ORCA-IN 19 3005858 3005858 single base substitution G A missense_variant P204S 610C>T ORCA-IN 19 3005858 3005858 single base substitution G A missense_variant P415S 1243C>T ORCA-IN 19 3005858 3005858 single base substitution G A missense_variant P537S 1609C>T ORCA-IN 19 3005858 3005858 single base substitution G A missense_variant P538S 1612C>T ORCA-IN 19 3005858 3005858 single base substitution G A missense_variant P551S 1651C>T ORCA-IN 19 3005944 3005944 single base substitution G T downstream_gene_variant ORCA-IN 19 3005944 3005944 single base substitution G T exon_variant ORCA-IN 19 3005944 3005944 single base substitution G T intron_variant ORCA-IN 19 3005944 3005944 single base substitution G T missense_variant S156Y 467C>A ORCA-IN 19 3005944 3005944 single base substitution G T missense_variant S175Y 524C>A ORCA-IN 19 3005944 3005944 single base substitution G T missense_variant S386Y 1157C>A ORCA-IN 19 3005944 3005944 single base substitution G T missense_variant S508Y 1523C>A ORCA-IN 19 3005944 3005944 single base substitution G T missense_variant S509Y 1526C>A ORCA-IN 19 3005944 3005944 single base substitution G T missense_variant S522Y 1565C>A ORCA-IN 19 3006463 3006463 single base substitution C A downstream_gene_variant ORCA-IN 19 3006463 3006463 single base substitution C A intron_variant ORCA-IN 19 3006463 3006463 single base substitution C A synonymous_variant V133V 399G>T ORCA-IN 19 3006463 3006463 single base substitution C A synonymous_variant V152V 456G>T ORCA-IN 19 3006463 3006463 single base substitution C A synonymous_variant V363V 1089G>T ORCA-IN 19 3006463 3006463 single base substitution C A synonymous_variant V485V 1455G>T ORCA-IN 19 3006463 3006463 single base substitution C A synonymous_variant V486V 1458G>T ORCA-IN 19 3006463 3006463 single base substitution C A synonymous_variant V499V 1497G>T ORCA-IN 19 3007114 3007114 single base substitution C T downstream_gene_variant ORCA-IN 19 3007114 3007114 single base substitution C T intron_variant ORCA-IN 19 3013775 3013775 single base substitution G T 5_prime_UTR_variant ORCA-IN 19 3013775 3013775 single base substitution G T downstream_gene_variant ORCA-IN 19 3013775 3013775 single base substitution G T exon_variant ORCA-IN 19 3013775 3013775 single base substitution G T intron_variant ORCA-IN 19 3013775 3013775 single base substitution G T stop_gained C133* 399C>A ORCA-IN 19 3013775 3013775 single base substitution G T stop_gained C255* 765C>A ORCA-IN 19 3013775 3013775 single base substitution G T stop_gained C256* 768C>A ORCA-IN 19 3013775 3013775 single base substitution G T stop_gained C269* 807C>A ORCA-IN 19 3013775 3013775 single base substitution G T upstream_gene_variant ORCA-IN 19 3028708 3028708 deletion of <=200bp G - 5_prime_UTR_variant ORCA-IN 19 3028708 3028708 deletion of <=200bp G - exon_variant ORCA-IN 19 3028708 3028708 deletion of <=200bp G - frameshift_variant H33 ORCA-IN 19 3028708 3028708 deletion of <=200bp G - frameshift_variant H40 ORCA-IN 19 3028708 3028708 deletion of <=200bp G - frameshift_variant H53 ORCA-IN 19 3028708 3028708 deletion of <=200bp G - upstream_gene_variant ORCA-IN 19 3030504 3030505 deletion of <=200bp AG - intron_variant ORCA-IN 19 3030504 3030505 deletion of <=200bp AG - upstream_gene_variant OV-AU 19 3002284 3002284 single base substitution G A downstream_gene_variant OV-AU 19 3002284 3002284 single base substitution G A intron_variant OV-AU 19 3007605 3007605 single base substitution G A downstream_gene_variant OV-AU 19 3007605 3007605 single base substitution G A intron_variant OV-AU 19 3008853 3008853 single base substitution A T downstream_gene_variant OV-AU 19 3008853 3008853 single base substitution A T intron_variant OV-AU 19 3015191 3015191 single base substitution G C downstream_gene_variant OV-AU 19 3015191 3015191 single base substitution G C intron_variant OV-AU 19 3018886 3018886 single base substitution G A downstream_gene_variant OV-AU 19 3018886 3018886 single base substitution G A intron_variant OV-AU 19 3029685 3029685 single base substitution G C intron_variant OV-AU 19 3029685 3029685 single base substitution G C upstream_gene_variant OV-AU 19 3045359 3045359 single base substitution G T intron_variant OV-AU 19 3046452 3046452 single base substitution A C intron_variant OV-AU 19 3046452 3046452 single base substitution A C upstream_gene_variant PACA-AU 19 2995733 2995733 single base substitution A T downstream_gene_variant PACA-AU 19 2995975 2995975 single base substitution G A downstream_gene_variant PACA-AU 19 2997676 2997676 single base substitution C A 3_prime_UTR_variant PACA-AU 19 2997676 2997676 single base substitution C A downstream_gene_variant PACA-AU 19 2997676 2997676 single base substitution C A missense_variant R114M 341G>T PACA-AU 19 2999137 2999137 single base substitution A G intron_variant PACA-AU 19 3005927 3005927 single base substitution C T downstream_gene_variant PACA-AU 19 3005927 3005927 single base substitution C T exon_variant PACA-AU 19 3005927 3005927 single base substitution C T intron_variant PACA-AU 19 3005927 3005927 single base substitution C T missense_variant D162N 484G>A PACA-AU 19 3005927 3005927 single base substitution C T missense_variant D181N 541G>A PACA-AU 19 3005927 3005927 single base substitution C T missense_variant D392N 1174G>A PACA-AU 19 3005927 3005927 single base substitution C T missense_variant D514N 1540G>A PACA-AU 19 3005927 3005927 single base substitution C T missense_variant D515N 1543G>A PACA-AU 19 3005927 3005927 single base substitution C T missense_variant D528N 1582G>A PACA-AU 19 3006542 3006542 single base substitution A C downstream_gene_variant PACA-AU 19 3006542 3006542 single base substitution A C exon_variant PACA-AU 19 3006542 3006542 single base substitution A C intron_variant PACA-AU 19 3006542 3006542 single base substitution A C missense_variant V107G 320T>G PACA-AU 19 3006542 3006542 single base substitution A C missense_variant V126G 377T>G PACA-AU 19 3006542 3006542 single base substitution A C missense_variant V337G 1010T>G PACA-AU 19 3006542 3006542 single base substitution A C missense_variant V459G 1376T>G PACA-AU 19 3006542 3006542 single base substitution A C missense_variant V460G 1379T>G PACA-AU 19 3006542 3006542 single base substitution A C missense_variant V473G 1418T>G PACA-AU 19 3015044 3015044 single base substitution A G downstream_gene_variant PACA-AU 19 3015044 3015044 single base substitution A G intron_variant PACA-AU 19 3019492 3019492 single base substitution C A 5_prime_UTR_variant PACA-AU 19 3019492 3019492 single base substitution C A downstream_gene_variant PACA-AU 19 3019492 3019492 single base substitution C A exon_variant PACA-AU 19 3019492 3019492 single base substitution C A intron_variant PACA-AU 19 3019492 3019492 single base substitution C A upstream_gene_variant PACA-AU 19 3019732 3019732 single base substitution G A 5_prime_UTR_variant PACA-AU 19 3019732 3019732 single base substitution G A exon_variant PACA-AU 19 3019732 3019732 single base substitution G A intron_variant PACA-AU 19 3019732 3019732 single base substitution G A stop_gained Q112* 334C>T PACA-AU 19 3019732 3019732 single base substitution G A stop_gained Q125* 373C>T PACA-AU 19 3019732 3019732 single base substitution G A stop_gained Q16* 46C>T PACA-AU 19 3019732 3019732 single base substitution G A stop_gained Q57* 169C>T PACA-AU 19 3019732 3019732 single base substitution G A upstream_gene_variant PACA-AU 19 3023058 3023058 single base substitution T C intron_variant PACA-AU 19 3023058 3023058 single base substitution T C upstream_gene_variant PACA-AU 19 3023059 3023059 single base substitution T C intron_variant PACA-AU 19 3023059 3023059 single base substitution T C upstream_gene_variant PACA-AU 19 3025321 3025345 deletion of <=200bp GTCCTACGAGTCACAGATACACCAC - exon_variant PACA-AU 19 3025321 3025345 deletion of <=200bp GTCCTACGAGTCACAGATACACCAC - intron_variant PACA-AU 19 3025321 3025345 deletion of <=200bp GTCCTACGAGTCACAGATACACCAC - upstream_gene_variant PACA-AU 19 3027442 3027442 single base substitution G T intron_variant PACA-AU 19 3027442 3027442 single base substitution G T upstream_gene_variant PACA-AU 19 3030686 3030686 single base substitution C T intron_variant PACA-AU 19 3030686 3030686 single base substitution C T upstream_gene_variant PACA-AU 19 3037078 3037078 single base substitution T G intron_variant PACA-AU 19 3038549 3038549 single base substitution C A intron_variant PACA-AU 19 3040668 3040668 single base substitution C A intron_variant PACA-AU 19 3040802 3040802 deletion of <=200bp T - intron_variant PACA-AU 19 3040856 3040856 single base substitution A G intron_variant PACA-AU 19 3043455 3043455 single base substitution G T intron_variant PACA-CA 19 2994476 2994476 single base substitution T C downstream_gene_variant PACA-CA 19 2999187 2999187 single base substitution G A intron_variant PACA-CA 19 3000730 3000740 deletion of <=200bp AGGAGAGCAGC - downstream_gene_variant PACA-CA 19 3000730 3000740 deletion of <=200bp AGGAGAGCAGC - intron_variant PACA-CA 19 3001496 3001496 single base substitution T A downstream_gene_variant PACA-CA 19 3001496 3001496 single base substitution T A intron_variant PACA-CA 19 3005947 3005947 single base substitution C T downstream_gene_variant PACA-CA 19 3005947 3005947 single base substitution C T exon_variant PACA-CA 19 3005947 3005947 single base substitution C T intron_variant PACA-CA 19 3005947 3005947 single base substitution C T missense_variant R155H 464G>A PACA-CA 19 3005947 3005947 single base substitution C T missense_variant R174H 521G>A PACA-CA 19 3005947 3005947 single base substitution C T missense_variant R385H 1154G>A PACA-CA 19 3005947 3005947 single base substitution C T missense_variant R507H 1520G>A PACA-CA 19 3005947 3005947 single base substitution C T missense_variant R508H 1523G>A PACA-CA 19 3005947 3005947 single base substitution C T missense_variant R521H 1562G>A PACA-CA 19 3006533 3006533 single base substitution G A downstream_gene_variant PACA-CA 19 3006533 3006533 single base substitution G A exon_variant PACA-CA 19 3006533 3006533 single base substitution G A intron_variant PACA-CA 19 3006533 3006533 single base substitution G A missense_variant A110V 329C>T PACA-CA 19 3006533 3006533 single base substitution G A missense_variant A129V 386C>T PACA-CA 19 3006533 3006533 single base substitution G A missense_variant A340V 1019C>T PACA-CA 19 3006533 3006533 single base substitution G A missense_variant A462V 1385C>T PACA-CA 19 3006533 3006533 single base substitution G A missense_variant A463V 1388C>T PACA-CA 19 3006533 3006533 single base substitution G A missense_variant A476V 1427C>T PACA-CA 19 3008169 3008169 single base substitution C T downstream_gene_variant PACA-CA 19 3008169 3008169 single base substitution C T intron_variant PACA-CA 19 3012530 3012530 single base substitution G C downstream_gene_variant PACA-CA 19 3012530 3012530 single base substitution G C intron_variant PACA-CA 19 3012530 3012530 single base substitution G C upstream_gene_variant PACA-CA 19 3016520 3016520 single base substitution G A downstream_gene_variant PACA-CA 19 3016520 3016520 single base substitution G A intron_variant PACA-CA 19 3016850 3016850 single base substitution C G downstream_gene_variant PACA-CA 19 3016850 3016850 single base substitution C G intron_variant PACA-CA 19 3017007 3017007 single base substitution C G downstream_gene_variant PACA-CA 19 3017007 3017007 single base substitution C G intron_variant PACA-CA 19 3022230 3022230 single base substitution T A intron_variant PACA-CA 19 3022230 3022230 single base substitution T A upstream_gene_variant PACA-CA 19 3026318 3026318 single base substitution C T intron_variant PACA-CA 19 3026318 3026318 single base substitution C T upstream_gene_variant PACA-CA 19 3028398 3028398 insertion of <=200bp - AGA intron_variant PACA-CA 19 3028398 3028398 insertion of <=200bp - AGA upstream_gene_variant PACA-CA 19 3033099 3033099 single base substitution C G intron_variant PACA-CA 19 3033099 3033099 single base substitution C G upstream_gene_variant PACA-CA 19 3035710 3035710 single base substitution G A intron_variant PACA-CA 19 3039693 3039693 single base substitution A G intron_variant PACA-CA 19 3039858 3039858 single base substitution T C intron_variant PACA-CA 19 3041470 3041470 single base substitution T A intron_variant PACA-CA 19 3042545 3042545 single base substitution A G intron_variant PACA-CA 19 3050116 3050116 single base substitution C T upstream_gene_variant PACA-CA 19 3052379 3052379 single base substitution G A upstream_gene_variant PAEN-AU 19 2995733 2995733 single base substitution A G downstream_gene_variant PAEN-AU 19 3018534 3018534 single base substitution G T downstream_gene_variant PAEN-AU 19 3018534 3018534 single base substitution G T intron_variant PAEN-AU 19 3018759 3018759 single base substitution C T downstream_gene_variant PAEN-AU 19 3018759 3018759 single base substitution C T intron_variant PAEN-AU 19 3030845 3030845 single base substitution G A intron_variant PAEN-AU 19 3030845 3030845 single base substitution G A upstream_gene_variant PBCA-DE 19 2994238 2994238 single base substitution C G downstream_gene_variant PBCA-DE 19 2995052 2995052 single base substitution C T downstream_gene_variant PBCA-DE 19 3008381 3008381 single base substitution G A downstream_gene_variant PBCA-DE 19 3008381 3008381 single base substitution G A intron_variant PBCA-DE 19 3013848 3013852 deletion of <=200bp TGAAA - downstream_gene_variant PBCA-DE 19 3013848 3013852 deletion of <=200bp TGAAA - intron_variant PBCA-DE 19 3013848 3013852 deletion of <=200bp TGAAA - upstream_gene_variant PBCA-DE 19 3022540 3022540 single base substitution A T intron_variant PBCA-DE 19 3022540 3022540 single base substitution A T upstream_gene_variant PBCA-DE 19 3035284 3035284 single base substitution C A intron_variant PBCA-DE 19 3046777 3046777 single base substitution G C intron_variant PBCA-DE 19 3046777 3046777 single base substitution G C upstream_gene_variant PBCA-DE 19 3047874 3047874 single base substitution G T upstream_gene_variant PRAD-CA 19 3011390 3011390 single base substitution C T downstream_gene_variant PRAD-CA 19 3011390 3011390 single base substitution C T intron_variant PRAD-CA 19 3011390 3011390 single base substitution C T upstream_gene_variant PRAD-CA 19 3025767 3025767 single base substitution C A intron_variant PRAD-CA 19 3025767 3025767 single base substitution C A upstream_gene_variant PRAD-CA 19 3030043 3030043 single base substitution C G intron_variant PRAD-CA 19 3030043 3030043 single base substitution C G upstream_gene_variant PRAD-CA 19 3034387 3034387 single base substitution C T intron_variant PRAD-CA 19 3034387 3034387 single base substitution C T upstream_gene_variant PRAD-CA 19 3048621 3048621 single base substitution C A upstream_gene_variant PRAD-UK 19 2997063 2997063 single base substitution A T downstream_gene_variant PRAD-UK 19 2997942 2997942 single base substitution C T intron_variant PRAD-UK 19 2997942 2997942 single base substitution C T missense_variant V701I 2101G>A PRAD-UK 19 2997942 2997942 single base substitution C T synonymous_variant S379S 1137G>A PRAD-UK 19 2997942 2997942 single base substitution C T synonymous_variant S590S 1770G>A PRAD-UK 19 2997942 2997942 single base substitution C T synonymous_variant S712S 2136G>A PRAD-UK 19 2997942 2997942 single base substitution C T synonymous_variant S713S 2139G>A PRAD-UK 19 2999208 2999208 single base substitution A G intron_variant PRAD-UK 19 3007692 3007692 single base substitution C T downstream_gene_variant PRAD-UK 19 3007692 3007692 single base substitution C T intron_variant PRAD-UK 19 3019873 3019873 single base substitution C T intron_variant PRAD-UK 19 3019873 3019873 single base substitution C T upstream_gene_variant PRAD-UK 19 3027221 3027221 single base substitution A T intron_variant PRAD-UK 19 3027221 3027221 single base substitution A T upstream_gene_variant PRAD-UK 19 3034678 3034678 single base substitution C T intron_variant PRAD-UK 19 3037810 3037810 single base substitution T A intron_variant PRAD-UK 19 3042951 3042951 single base substitution G A intron_variant PRAD-UK 19 3044558 3044558 single base substitution C T intron_variant PRAD-UK 19 3050818 3050818 single base substitution C T upstream_gene_variant READ-US 19 2994090 2994090 single base substitution C A downstream_gene_variant READ-US 19 3005795 3005795 single base substitution C T downstream_gene_variant READ-US 19 3005795 3005795 single base substitution C T intron_variant READ-US 19 3005795 3005795 single base substitution C T missense_variant D206N 616G>A READ-US 19 3005795 3005795 single base substitution C T missense_variant D225N 673G>A READ-US 19 3005795 3005795 single base substitution C T missense_variant D436N 1306G>A READ-US 19 3005795 3005795 single base substitution C T missense_variant D558N 1672G>A READ-US 19 3005795 3005795 single base substitution C T missense_variant D559N 1675G>A READ-US 19 3005795 3005795 single base substitution C T missense_variant D572N 1714G>A READ-US 19 3014603 3014603 single base substitution C T 5_prime_UTR_variant READ-US 19 3014603 3014603 single base substitution C T downstream_gene_variant READ-US 19 3014603 3014603 single base substitution C T exon_variant READ-US 19 3014603 3014603 single base substitution C T intron_variant READ-US 19 3014603 3014603 single base substitution C T missense_variant E108K 322G>A READ-US 19 3014603 3014603 single base substitution C T missense_variant E110K 328G>A READ-US 19 3014603 3014603 single base substitution C T missense_variant E138K 412G>A READ-US 19 3014603 3014603 single base substitution C T missense_variant E230K 688G>A READ-US 19 3014603 3014603 single base substitution C T missense_variant E231K 691G>A READ-US 19 3014603 3014603 single base substitution C T missense_variant E244K 730G>A RECA-EU 19 2994256 2994256 single base substitution T A downstream_gene_variant RECA-EU 19 2997876 2997876 single base substitution C A 3_prime_UTR_variant RECA-EU 19 2997876 2997876 single base substitution C A downstream_gene_variant RECA-EU 19 2997876 2997876 single base substitution C A intron_variant RECA-EU 19 2997876 2997876 single base substitution C A missense_variant K401N 1203G>T RECA-EU 19 2997876 2997876 single base substitution C A missense_variant K612N 1836G>T RECA-EU 19 2997876 2997876 single base substitution C A missense_variant K734N 2202G>T RECA-EU 19 2997876 2997876 single base substitution C A missense_variant K735N 2205G>T RECA-EU 19 3009472 3009472 single base substitution G A downstream_gene_variant RECA-EU 19 3009472 3009472 single base substitution G A intron_variant RECA-EU 19 3009472 3009472 single base substitution G A upstream_gene_variant RECA-EU 19 3011891 3011891 single base substitution T A downstream_gene_variant RECA-EU 19 3011891 3011891 single base substitution T A intron_variant RECA-EU 19 3011891 3011891 single base substitution T A upstream_gene_variant RECA-EU 19 3017824 3017824 single base substitution T G downstream_gene_variant RECA-EU 19 3017824 3017824 single base substitution T G intron_variant RECA-EU 19 3025354 3025354 single base substitution C G exon_variant RECA-EU 19 3025354 3025354 single base substitution C G intron_variant RECA-EU 19 3025354 3025354 single base substitution C G upstream_gene_variant RECA-EU 19 3028871 3028871 single base substitution G C intron_variant RECA-EU 19 3028871 3028871 single base substitution G C splice_region_variant RECA-EU 19 3028871 3028871 single base substitution G C upstream_gene_variant RECA-EU 19 3030600 3030600 single base substitution T A intron_variant RECA-EU 19 3030600 3030600 single base substitution T A upstream_gene_variant RECA-EU 19 3044602 3044602 single base substitution G T intron_variant RECA-EU 19 3045450 3045450 single base substitution T A intron_variant SKCA-BR 19 2993743 2993743 single base substitution A G downstream_gene_variant SKCA-BR 19 2993941 2993941 single base substitution G A downstream_gene_variant SKCA-BR 19 2994079 2994079 single base substitution A G downstream_gene_variant SKCA-BR 19 2994602 2994602 insertion of <=200bp - TA downstream_gene_variant SKCA-BR 19 2995073 2995073 single base substitution G A downstream_gene_variant SKCA-BR 19 2995310 2995311 deletion of <=200bp TC - downstream_gene_variant SKCA-BR 19 2997361 2997361 single base substitution G A downstream_gene_variant SKCA-BR 19 2997626 2997626 single base substitution G A downstream_gene_variant SKCA-BR 19 2998235 2998247 deletion of <=200bp ATGTGTGTGTGTG - intron_variant SKCA-BR 19 2998273 2998273 single base substitution G A intron_variant SKCA-BR 19 2998880 2998880 single base substitution G A intron_variant SKCA-BR 19 2999500 2999500 single base substitution T G intron_variant SKCA-BR 19 2999724 2999724 insertion of <=200bp - CA intron_variant SKCA-BR 19 2999735 2999738 deletion of <=200bp AAAG - intron_variant SKCA-BR 19 2999738 2999738 single base substitution G A intron_variant SKCA-BR 19 3001198 3001198 single base substitution G A downstream_gene_variant SKCA-BR 19 3001198 3001198 single base substitution G A intron_variant SKCA-BR 19 3007950 3007950 single base substitution C T downstream_gene_variant SKCA-BR 19 3007950 3007950 single base substitution C T intron_variant SKCA-BR 19 3008922 3008922 single base substitution G A downstream_gene_variant SKCA-BR 19 3008922 3008922 single base substitution G A intron_variant SKCA-BR 19 3008922 3008922 single base substitution G A missense_variant H277Y 829C>T SKCA-BR 19 3008922 3008922 single base substitution G A missense_variant H399Y 1195C>T SKCA-BR 19 3008922 3008922 single base substitution G A missense_variant H400Y 1198C>T SKCA-BR 19 3008922 3008922 single base substitution G A missense_variant H413Y 1237C>T SKCA-BR 19 3008922 3008922 single base substitution G A missense_variant H47Y 139C>T SKCA-BR 19 3008922 3008922 single base substitution G A missense_variant H66Y 196C>T SKCA-BR 19 3008922 3008922 single base substitution G A upstream_gene_variant SKCA-BR 19 3008987 3008987 single base substitution A C downstream_gene_variant SKCA-BR 19 3008987 3008987 single base substitution A C intron_variant SKCA-BR 19 3008987 3008987 single base substitution A C upstream_gene_variant SKCA-BR 19 3009002 3009002 single base substitution A C downstream_gene_variant SKCA-BR 19 3009002 3009002 single base substitution A C intron_variant SKCA-BR 19 3009002 3009002 single base substitution A C upstream_gene_variant SKCA-BR 19 3009013 3009013 single base substitution A C downstream_gene_variant SKCA-BR 19 3009013 3009013 single base substitution A C intron_variant SKCA-BR 19 3009013 3009013 single base substitution A C upstream_gene_variant SKCA-BR 19 3009883 3009883 insertion of <=200bp - CT downstream_gene_variant SKCA-BR 19 3009883 3009883 insertion of <=200bp - CT intron_variant SKCA-BR 19 3009883 3009883 insertion of <=200bp - CT upstream_gene_variant SKCA-BR 19 3010370 3010372 deletion of <=200bp AAG - downstream_gene_variant SKCA-BR 19 3010370 3010372 deletion of <=200bp AAG - intron_variant SKCA-BR 19 3010370 3010372 deletion of <=200bp AAG - upstream_gene_variant SKCA-BR 19 3010373 3010373 single base substitution G A downstream_gene_variant SKCA-BR 19 3010373 3010373 single base substitution G A intron_variant SKCA-BR 19 3010373 3010373 single base substitution G A upstream_gene_variant SKCA-BR 19 3012257 3012257 single base substitution G A downstream_gene_variant SKCA-BR 19 3012257 3012257 single base substitution G A intron_variant SKCA-BR 19 3012257 3012257 single base substitution G A upstream_gene_variant SKCA-BR 19 3013986 3013987 deletion of <=200bp AT - downstream_gene_variant SKCA-BR 19 3013986 3013987 deletion of <=200bp AT - intron_variant SKCA-BR 19 3015886 3015886 single base substitution G A downstream_gene_variant SKCA-BR 19 3015886 3015886 single base substitution G A intron_variant SKCA-BR 19 3016879 3016879 single base substitution C T downstream_gene_variant SKCA-BR 19 3016879 3016879 single base substitution C T intron_variant SKCA-BR 19 3017281 3017281 single base substitution A C downstream_gene_variant SKCA-BR 19 3017281 3017281 single base substitution A C intron_variant SKCA-BR 19 3017364 3017364 single base substitution G A downstream_gene_variant SKCA-BR 19 3017364 3017364 single base substitution G A intron_variant SKCA-BR 19 3017430 3017430 insertion of <=200bp - GT downstream_gene_variant SKCA-BR 19 3017430 3017430 insertion of <=200bp - GT intron_variant SKCA-BR 19 3017450 3017450 insertion of <=200bp - CTTT downstream_gene_variant SKCA-BR 19 3017450 3017450 insertion of <=200bp - CTTT intron_variant SKCA-BR 19 3018517 3018517 single base substitution C T downstream_gene_variant SKCA-BR 19 3018517 3018517 single base substitution C T intron_variant SKCA-BR 19 3019420 3019420 single base substitution G A 5_prime_UTR_variant SKCA-BR 19 3019420 3019420 single base substitution G A downstream_gene_variant SKCA-BR 19 3019420 3019420 single base substitution G A exon_variant SKCA-BR 19 3019420 3019420 single base substitution G A intron_variant SKCA-BR 19 3019420 3019420 single base substitution G A synonymous_variant P137P 411C>T SKCA-BR 19 3019420 3019420 single base substitution G A synonymous_variant P138P 414C>T SKCA-BR 19 3019420 3019420 single base substitution G A synonymous_variant P151P 453C>T SKCA-BR 19 3019420 3019420 single base substitution G A synonymous_variant P82P 246C>T SKCA-BR 19 3019420 3019420 single base substitution G A upstream_gene_variant SKCA-BR 19 3019540 3019540 single base substitution G A 5_prime_UTR_premature_start_codon_gain_variant SKCA-BR 19 3019540 3019540 single base substitution G A downstream_gene_variant SKCA-BR 19 3019540 3019540 single base substitution G A exon_variant SKCA-BR 19 3019540 3019540 single base substitution G A intron_variant SKCA-BR 19 3019540 3019540 single base substitution G A upstream_gene_variant SKCA-BR 19 3020228 3020228 single base substitution T C intron_variant SKCA-BR 19 3020228 3020228 single base substitution T C upstream_gene_variant SKCA-BR 19 3021109 3021113 deletion of <=200bp AAAAG - intron_variant SKCA-BR 19 3021109 3021113 deletion of <=200bp AAAAG - upstream_gene_variant SKCA-BR 19 3021499 3021499 single base substitution T G intron_variant SKCA-BR 19 3021499 3021499 single base substitution T G upstream_gene_variant SKCA-BR 19 3023052 3023052 insertion of <=200bp - ATCT intron_variant SKCA-BR 19 3023052 3023052 insertion of <=200bp - ATCT upstream_gene_variant SKCA-BR 19 3023688 3023688 single base substitution C T intron_variant SKCA-BR 19 3023688 3023688 single base substitution C T upstream_gene_variant SKCA-BR 19 3024273 3024273 single base substitution G A intron_variant SKCA-BR 19 3024273 3024273 single base substitution G A upstream_gene_variant SKCA-BR 19 3026590 3026610 deletion of <=200bp TGAACCCTGAGGTCAATCTCA - intron_variant SKCA-BR 19 3026590 3026610 deletion of <=200bp TGAACCCTGAGGTCAATCTCA - upstream_gene_variant SKCA-BR 19 3026624 3026624 single base substitution T A intron_variant SKCA-BR 19 3026624 3026624 single base substitution T A upstream_gene_variant SKCA-BR 19 3026630 3026630 single base substitution T A intron_variant SKCA-BR 19 3026630 3026630 single base substitution T A upstream_gene_variant SKCA-BR 19 3026637 3026637 insertion of <=200bp - TGAG intron_variant SKCA-BR 19 3026637 3026637 insertion of <=200bp - TGAG upstream_gene_variant SKCA-BR 19 3029557 3029557 insertion of <=200bp - GGGGA 5_prime_UTR_variant SKCA-BR 19 3029557 3029557 insertion of <=200bp - GGGGA exon_variant SKCA-BR 19 3029557 3029557 insertion of <=200bp - GGGGA intron_variant SKCA-BR 19 3029557 3029557 insertion of <=200bp - GGGGA upstream_gene_variant SKCA-BR 19 3031265 3031265 single base substitution G A intron_variant SKCA-BR 19 3031265 3031265 single base substitution G A upstream_gene_variant SKCA-BR 19 3032361 3032361 single base substitution G A intron_variant SKCA-BR 19 3032361 3032361 single base substitution G A upstream_gene_variant SKCA-BR 19 3033256 3033256 single base substitution C T intron_variant SKCA-BR 19 3033256 3033256 single base substitution C T upstream_gene_variant SKCA-BR 19 3035546 3035546 single base substitution G A intron_variant SKCA-BR 19 3035709 3035709 single base substitution G A intron_variant SKCA-BR 19 3035710 3035710 single base substitution G A intron_variant SKCA-BR 19 3036542 3036542 single base substitution T C intron_variant SKCA-BR 19 3038838 3038838 single base substitution T G intron_variant SKCA-BR 19 3040932 3040932 single base substitution G A intron_variant SKCA-BR 19 3040933 3040933 single base substitution G A intron_variant SKCA-BR 19 3040989 3040989 insertion of <=200bp - TTA intron_variant SKCA-BR 19 3041011 3041011 insertion of <=200bp - ATATATATTT intron_variant SKCA-BR 19 3041012 3041012 insertion of <=200bp - TA intron_variant SKCA-BR 19 3041012 3041012 insertion of <=200bp - TATA intron_variant SKCA-BR 19 3041013 3041013 single base substitution T A intron_variant SKCA-BR 19 3041268 3041268 single base substitution A C intron_variant SKCA-BR 19 3043639 3043639 single base substitution T A intron_variant SKCA-BR 19 3043942 3043942 single base substitution A C intron_variant SKCA-BR 19 3044269 3044269 single base substitution C T intron_variant SKCA-BR 19 3048166 3048166 single base substitution T G upstream_gene_variant SKCA-BR 19 3051060 3051060 single base substitution G A upstream_gene_variant SKCA-BR 19 3051298 3051298 single base substitution G A upstream_gene_variant SKCA-BR 19 3051491 3051491 single base substitution T G upstream_gene_variant SKCA-BR 19 3051655 3051655 single base substitution T G upstream_gene_variant SKCM-US 19 2993568 2993568 single base substitution T C downstream_gene_variant SKCM-US 19 2994037 2994037 single base substitution G A downstream_gene_variant SKCM-US 19 3000675 3000675 single base substitution C T downstream_gene_variant SKCM-US 19 3000675 3000675 single base substitution C T intron_variant SKCM-US 19 3000675 3000675 single base substitution C T stop_gained W365* 1095G>A SKCM-US 19 3000675 3000675 single base substitution C T stop_gained W576* 1728G>A SKCM-US 19 3000675 3000675 single base substitution C T stop_gained W698* 2094G>A SKCM-US 19 3000675 3000675 single base substitution C T stop_gained W699* 2097G>A SKCM-US 19 3002402 3002402 single base substitution G A downstream_gene_variant SKCM-US 19 3002402 3002402 single base substitution G A intron_variant SKCM-US 19 3002402 3002402 single base substitution G A stop_gained Q333* 997C>T SKCM-US 19 3002402 3002402 single base substitution G A stop_gained Q544* 1630C>T SKCM-US 19 3002402 3002402 single base substitution G A stop_gained Q666* 1996C>T SKCM-US 19 3002402 3002402 single base substitution G A stop_gained Q667* 1999C>T SKCM-US 19 3002402 3002402 single base substitution G A stop_gained Q680* 2038C>T SKCM-US 19 3002450 3002450 single base substitution C A downstream_gene_variant SKCM-US 19 3002450 3002450 single base substitution C A intron_variant SKCM-US 19 3002450 3002450 single base substitution C A stop_gained E317* 949G>T SKCM-US 19 3002450 3002450 single base substitution C A stop_gained E528* 1582G>T SKCM-US 19 3002450 3002450 single base substitution C A stop_gained E650* 1948G>T SKCM-US 19 3002450 3002450 single base substitution C A stop_gained E651* 1951G>T SKCM-US 19 3002450 3002450 single base substitution C A stop_gained E664* 1990G>T SKCM-US 19 3005473 3005473 single base substitution C T downstream_gene_variant SKCM-US 19 3005473 3005473 single base substitution C T intron_variant SKCM-US 19 3005473 3005473 single base substitution C T missense_variant E268K 802G>A SKCM-US 19 3005473 3005473 single base substitution C T missense_variant E287K 859G>A SKCM-US 19 3005473 3005473 single base substitution C T missense_variant E498K 1492G>A SKCM-US 19 3005473 3005473 single base substitution C T missense_variant E620K 1858G>A SKCM-US 19 3005473 3005473 single base substitution C T missense_variant E621K 1861G>A SKCM-US 19 3005473 3005473 single base substitution C T missense_variant E634K 1900G>A SKCM-US 19 3005503 3005503 single base substitution C T downstream_gene_variant SKCM-US 19 3005503 3005503 single base substitution C T intron_variant SKCM-US 19 3005503 3005503 single base substitution C T missense_variant D258N 772G>A SKCM-US 19 3005503 3005503 single base substitution C T missense_variant D277N 829G>A SKCM-US 19 3005503 3005503 single base substitution C T missense_variant D488N 1462G>A SKCM-US 19 3005503 3005503 single base substitution C T missense_variant D610N 1828G>A SKCM-US 19 3005503 3005503 single base substitution C T missense_variant D611N 1831G>A SKCM-US 19 3005503 3005503 single base substitution C T missense_variant D624N 1870G>A SKCM-US 19 3005778 3005778 single base substitution G A downstream_gene_variant SKCM-US 19 3005778 3005778 single base substitution G A intron_variant SKCM-US 19 3005778 3005778 single base substitution G A synonymous_variant F211F 633C>T SKCM-US 19 3005778 3005778 single base substitution G A synonymous_variant F230F 690C>T SKCM-US 19 3005778 3005778 single base substitution G A synonymous_variant F441F 1323C>T SKCM-US 19 3005778 3005778 single base substitution G A synonymous_variant F563F 1689C>T SKCM-US 19 3005778 3005778 single base substitution G A synonymous_variant F564F 1692C>T SKCM-US 19 3005778 3005778 single base substitution G A synonymous_variant F577F 1731C>T SKCM-US 19 3005791 3005791 single base substitution G A downstream_gene_variant SKCM-US 19 3005791 3005791 single base substitution G A intron_variant SKCM-US 19 3005791 3005791 single base substitution G A missense_variant A207V 620C>T SKCM-US 19 3005791 3005791 single base substitution G A missense_variant A226V 677C>T SKCM-US 19 3005791 3005791 single base substitution G A missense_variant A437V 1310C>T SKCM-US 19 3005791 3005791 single base substitution G A missense_variant A559V 1676C>T SKCM-US 19 3005791 3005791 single base substitution G A missense_variant A560V 1679C>T SKCM-US 19 3005791 3005791 single base substitution G A missense_variant A573V 1718C>T SKCM-US 19 3005910 3005910 single base substitution G A downstream_gene_variant SKCM-US 19 3005910 3005910 single base substitution G A exon_variant SKCM-US 19 3005910 3005910 single base substitution G A intron_variant SKCM-US 19 3005910 3005910 single base substitution G A synonymous_variant I167I 501C>T SKCM-US 19 3005910 3005910 single base substitution G A synonymous_variant I186I 558C>T SKCM-US 19 3005910 3005910 single base substitution G A synonymous_variant I397I 1191C>T SKCM-US 19 3005910 3005910 single base substitution G A synonymous_variant I519I 1557C>T SKCM-US 19 3005910 3005910 single base substitution G A synonymous_variant I520I 1560C>T SKCM-US 19 3005910 3005910 single base substitution G A synonymous_variant I533I 1599C>T SKCM-US 19 3006496 3006496 single base substitution C T downstream_gene_variant SKCM-US 19 3006496 3006496 single base substitution C T exon_variant SKCM-US 19 3006496 3006496 single base substitution C T intron_variant SKCM-US 19 3006496 3006496 single base substitution C T synonymous_variant T122T 366G>A SKCM-US 19 3006496 3006496 single base substitution C T synonymous_variant T141T 423G>A SKCM-US 19 3006496 3006496 single base substitution C T synonymous_variant T352T 1056G>A SKCM-US 19 3006496 3006496 single base substitution C T synonymous_variant T474T 1422G>A SKCM-US 19 3006496 3006496 single base substitution C T synonymous_variant T475T 1425G>A SKCM-US 19 3006496 3006496 single base substitution C T synonymous_variant T488T 1464G>A SKCM-US 19 3006639 3006639 single base substitution C T downstream_gene_variant SKCM-US 19 3006639 3006639 single base substitution C T exon_variant SKCM-US 19 3006639 3006639 single base substitution C T intron_variant SKCM-US 19 3006639 3006639 single base substitution C T missense_variant G305R 913G>A SKCM-US 19 3006639 3006639 single base substitution C T missense_variant G427R 1279G>A SKCM-US 19 3006639 3006639 single base substitution C T missense_variant G428R 1282G>A SKCM-US 19 3006639 3006639 single base substitution C T missense_variant G441R 1321G>A SKCM-US 19 3006639 3006639 single base substitution C T missense_variant G75R 223G>A SKCM-US 19 3006639 3006639 single base substitution C T missense_variant G94R 280G>A SKCM-US 19 3009539 3009539 single base substitution C T downstream_gene_variant SKCM-US 19 3009539 3009539 single base substitution C T intron_variant SKCM-US 19 3009539 3009539 single base substitution C T splice_donor_variant SKCM-US 19 3009539 3009539 single base substitution C T upstream_gene_variant SKCM-US 19 3009582 3009582 single base substitution G A downstream_gene_variant SKCM-US 19 3009582 3009582 single base substitution G A exon_variant SKCM-US 19 3009582 3009582 single base substitution G A intron_variant SKCM-US 19 3009582 3009582 single base substitution G A splice_region_variant SKCM-US 19 3009582 3009582 single base substitution G A synonymous_variant S255S 765C>T SKCM-US 19 3009582 3009582 single base substitution G A synonymous_variant S377S 1131C>T SKCM-US 19 3009582 3009582 single base substitution G A synonymous_variant S378S 1134C>T SKCM-US 19 3009582 3009582 single base substitution G A synonymous_variant S391S 1173C>T SKCM-US 19 3009582 3009582 single base substitution G A upstream_gene_variant SKCM-US 19 3009669 3009669 single base substitution G A downstream_gene_variant SKCM-US 19 3009669 3009669 single base substitution G A exon_variant SKCM-US 19 3009669 3009669 single base substitution G A intron_variant SKCM-US 19 3009669 3009669 single base substitution G A synonymous_variant P226P 678C>T SKCM-US 19 3009669 3009669 single base substitution G A synonymous_variant P348P 1044C>T SKCM-US 19 3009669 3009669 single base substitution G A synonymous_variant P349P 1047C>T SKCM-US 19 3009669 3009669 single base substitution G A synonymous_variant P362P 1086C>T SKCM-US 19 3009669 3009669 single base substitution G A upstream_gene_variant SKCM-US 19 3011090 3011090 single base substitution G A downstream_gene_variant SKCM-US 19 3011090 3011090 single base substitution G A exon_variant SKCM-US 19 3011090 3011090 single base substitution G A intron_variant SKCM-US 19 3011090 3011090 single base substitution G A missense_variant P23L 68C>T SKCM-US 19 3011090 3011090 single base substitution G A synonymous_variant T192T 576C>T SKCM-US 19 3011090 3011090 single base substitution G A synonymous_variant T314T 942C>T SKCM-US 19 3011090 3011090 single base substitution G A synonymous_variant T315T 945C>T SKCM-US 19 3011090 3011090 single base substitution G A synonymous_variant T328T 984C>T SKCM-US 19 3011090 3011090 single base substitution G A upstream_gene_variant SKCM-US 19 3011136 3011136 single base substitution G A downstream_gene_variant SKCM-US 19 3011136 3011136 single base substitution G A exon_variant SKCM-US 19 3011136 3011136 single base substitution G A intron_variant SKCM-US 19 3011136 3011136 single base substitution G A missense_variant P177L 530C>T SKCM-US 19 3011136 3011136 single base substitution G A missense_variant P299L 896C>T SKCM-US 19 3011136 3011136 single base substitution G A missense_variant P300L 899C>T SKCM-US 19 3011136 3011136 single base substitution G A missense_variant P313L 938C>T SKCM-US 19 3011136 3011136 single base substitution G A synonymous_variant L8L 22C>T SKCM-US 19 3011136 3011136 single base substitution G A upstream_gene_variant SKCM-US 19 3013779 3013779 single base substitution G A 5_prime_UTR_variant SKCM-US 19 3013779 3013779 single base substitution G A downstream_gene_variant SKCM-US 19 3013779 3013779 single base substitution G A exon_variant SKCM-US 19 3013779 3013779 single base substitution G A intron_variant SKCM-US 19 3013779 3013779 single base substitution G A missense_variant P132L 395C>T SKCM-US 19 3013779 3013779 single base substitution G A missense_variant P254L 761C>T SKCM-US 19 3013779 3013779 single base substitution G A missense_variant P255L 764C>T SKCM-US 19 3013779 3013779 single base substitution G A missense_variant P268L 803C>T SKCM-US 19 3013779 3013779 single base substitution G A upstream_gene_variant SKCM-US 19 3019299 3019299 single base substitution C T 5_prime_UTR_variant SKCM-US 19 3019299 3019299 single base substitution C T downstream_gene_variant SKCM-US 19 3019299 3019299 single base substitution C T exon_variant SKCM-US 19 3019299 3019299 single base substitution C T intron_variant SKCM-US 19 3019299 3019299 single base substitution C T missense_variant E178K 532G>A SKCM-US 19 3019299 3019299 single base substitution C T missense_variant E179K 535G>A SKCM-US 19 3019299 3019299 single base substitution C T missense_variant E192K 574G>A SKCM-US 19 3019299 3019299 single base substitution C T synonymous_variant ?179 STAD-US 19 2993498 2993498 single base substitution G A downstream_gene_variant STAD-US 19 3005565 3005565 single base substitution G A downstream_gene_variant STAD-US 19 3005565 3005565 single base substitution G A intron_variant STAD-US 19 3005565 3005565 single base substitution G A missense_variant T237M 710C>T STAD-US 19 3005565 3005565 single base substitution G A missense_variant T256M 767C>T STAD-US 19 3005565 3005565 single base substitution G A missense_variant T467M 1400C>T STAD-US 19 3005565 3005565 single base substitution G A missense_variant T589M 1766C>T STAD-US 19 3005565 3005565 single base substitution G A missense_variant T590M 1769C>T STAD-US 19 3005565 3005565 single base substitution G A missense_variant T603M 1808C>T STAD-US 19 3005766 3005766 single base substitution G A downstream_gene_variant STAD-US 19 3005766 3005766 single base substitution G A intron_variant STAD-US 19 3005766 3005766 single base substitution G A synonymous_variant S215S 645C>T STAD-US 19 3005766 3005766 single base substitution G A synonymous_variant S234S 702C>T STAD-US 19 3005766 3005766 single base substitution G A synonymous_variant S445S 1335C>T STAD-US 19 3005766 3005766 single base substitution G A synonymous_variant S567S 1701C>T STAD-US 19 3005766 3005766 single base substitution G A synonymous_variant S568S 1704C>T STAD-US 19 3005766 3005766 single base substitution G A synonymous_variant S581S 1743C>T STAD-US 19 3005804 3005804 single base substitution C T downstream_gene_variant STAD-US 19 3005804 3005804 single base substitution C T intron_variant STAD-US 19 3005804 3005804 single base substitution C T missense_variant V203I 607G>A STAD-US 19 3005804 3005804 single base substitution C T missense_variant V222I 664G>A STAD-US 19 3005804 3005804 single base substitution C T missense_variant V433I 1297G>A STAD-US 19 3005804 3005804 single base substitution C T missense_variant V555I 1663G>A STAD-US 19 3005804 3005804 single base substitution C T missense_variant V556I 1666G>A STAD-US 19 3005804 3005804 single base substitution C T missense_variant V569I 1705G>A STAD-US 19 3005855 3005855 insertion of <=200bp - G downstream_gene_variant STAD-US 19 3005855 3005855 insertion of <=200bp - G exon_variant STAD-US 19 3005855 3005855 insertion of <=200bp - G frameshift_variant R186P? STAD-US 19 3005855 3005855 insertion of <=200bp - G frameshift_variant R205P? STAD-US 19 3005855 3005855 insertion of <=200bp - G frameshift_variant R416P? STAD-US 19 3005855 3005855 insertion of <=200bp - G frameshift_variant R538P? STAD-US 19 3005855 3005855 insertion of <=200bp - G frameshift_variant R539P? STAD-US 19 3005855 3005855 insertion of <=200bp - G frameshift_variant R552P? STAD-US 19 3005855 3005855 insertion of <=200bp - G intron_variant STAD-US 19 3005872 3005872 single base substitution A G downstream_gene_variant STAD-US 19 3005872 3005872 single base substitution A G exon_variant STAD-US 19 3005872 3005872 single base substitution A G intron_variant STAD-US 19 3005872 3005872 single base substitution A G missense_variant L180P 539T>C STAD-US 19 3005872 3005872 single base substitution A G missense_variant L199P 596T>C STAD-US 19 3005872 3005872 single base substitution A G missense_variant L410P 1229T>C STAD-US 19 3005872 3005872 single base substitution A G missense_variant L532P 1595T>C STAD-US 19 3005872 3005872 single base substitution A G missense_variant L533P 1598T>C STAD-US 19 3005872 3005872 single base substitution A G missense_variant L546P 1637T>C STAD-US 19 3005923 3005923 single base substitution C T downstream_gene_variant STAD-US 19 3005923 3005923 single base substitution C T exon_variant STAD-US 19 3005923 3005923 single base substitution C T intron_variant STAD-US 19 3005923 3005923 single base substitution C T missense_variant G163D 488G>A STAD-US 19 3005923 3005923 single base substitution C T missense_variant G182D 545G>A STAD-US 19 3005923 3005923 single base substitution C T missense_variant G393D 1178G>A STAD-US 19 3005923 3005923 single base substitution C T missense_variant G515D 1544G>A STAD-US 19 3005923 3005923 single base substitution C T missense_variant G516D 1547G>A STAD-US 19 3005923 3005923 single base substitution C T missense_variant G529D 1586G>A STAD-US 19 3005947 3005947 single base substitution C T downstream_gene_variant STAD-US 19 3005947 3005947 single base substitution C T exon_variant STAD-US 19 3005947 3005947 single base substitution C T intron_variant STAD-US 19 3005947 3005947 single base substitution C T missense_variant R155H 464G>A STAD-US 19 3005947 3005947 single base substitution C T missense_variant R174H 521G>A STAD-US 19 3005947 3005947 single base substitution C T missense_variant R385H 1154G>A STAD-US 19 3005947 3005947 single base substitution C T missense_variant R507H 1520G>A STAD-US 19 3005947 3005947 single base substitution C T missense_variant R508H 1523G>A STAD-US 19 3005947 3005947 single base substitution C T missense_variant R521H 1562G>A STAD-US 19 3006610 3006610 single base substitution C T downstream_gene_variant STAD-US 19 3006610 3006610 single base substitution C T exon_variant STAD-US 19 3006610 3006610 single base substitution C T intron_variant STAD-US 19 3006610 3006610 single base substitution C T synonymous_variant S103S 309G>A STAD-US 19 3006610 3006610 single base substitution C T synonymous_variant S314S 942G>A STAD-US 19 3006610 3006610 single base substitution C T synonymous_variant S436S 1308G>A STAD-US 19 3006610 3006610 single base substitution C T synonymous_variant S437S 1311G>A STAD-US 19 3006610 3006610 single base substitution C T synonymous_variant S450S 1350G>A STAD-US 19 3006610 3006610 single base substitution C T synonymous_variant S84S 252G>A STAD-US 19 3009542 3009542 single base substitution C T downstream_gene_variant STAD-US 19 3009542 3009542 single base substitution C T intron_variant STAD-US 19 3009542 3009542 single base substitution C T missense_variant V269M 805G>A STAD-US 19 3009542 3009542 single base substitution C T missense_variant V391M 1171G>A STAD-US 19 3009542 3009542 single base substitution C T missense_variant V392M 1174G>A STAD-US 19 3009542 3009542 single base substitution C T missense_variant V39M 115G>A STAD-US 19 3009542 3009542 single base substitution C T missense_variant V405M 1213G>A STAD-US 19 3009542 3009542 single base substitution C T missense_variant V58M 172G>A STAD-US 19 3009542 3009542 single base substitution C T upstream_gene_variant STAD-US 19 3009543 3009543 single base substitution G A downstream_gene_variant STAD-US 19 3009543 3009543 single base substitution G A intron_variant STAD-US 19 3009543 3009543 single base substitution G A synonymous_variant P268P 804C>T STAD-US 19 3009543 3009543 single base substitution G A synonymous_variant P38P 114C>T STAD-US 19 3009543 3009543 single base substitution G A synonymous_variant P390P 1170C>T STAD-US 19 3009543 3009543 single base substitution G A synonymous_variant P391P 1173C>T STAD-US 19 3009543 3009543 single base substitution G A synonymous_variant P404P 1212C>T STAD-US 19 3009543 3009543 single base substitution G A synonymous_variant P57P 171C>T STAD-US 19 3009543 3009543 single base substitution G A upstream_gene_variant STAD-US 19 3009627 3009627 single base substitution G A downstream_gene_variant STAD-US 19 3009627 3009627 single base substitution G A exon_variant STAD-US 19 3009627 3009627 single base substitution G A intron_variant STAD-US 19 3009627 3009627 single base substitution G A synonymous_variant N240N 720C>T STAD-US 19 3009627 3009627 single base substitution G A synonymous_variant N362N 1086C>T STAD-US 19 3009627 3009627 single base substitution G A synonymous_variant N363N 1089C>T STAD-US 19 3009627 3009627 single base substitution G A synonymous_variant N376N 1128C>T STAD-US 19 3009627 3009627 single base substitution G A upstream_gene_variant STAD-US 19 3009702 3009702 single base substitution T C downstream_gene_variant STAD-US 19 3009702 3009702 single base substitution T C intron_variant STAD-US 19 3009702 3009702 single base substitution T C splice_acceptor_variant STAD-US 19 3009702 3009702 single base substitution T C upstream_gene_variant STAD-US 19 3013795 3013795 insertion of <=200bp - G 5_prime_UTR_variant STAD-US 19 3013795 3013795 insertion of <=200bp - G downstream_gene_variant STAD-US 19 3013795 3013795 insertion of <=200bp - G exon_variant STAD-US 19 3013795 3013795 insertion of <=200bp - G frameshift_variant S127T? STAD-US 19 3013795 3013795 insertion of <=200bp - G frameshift_variant S129T? STAD-US 19 3013795 3013795 insertion of <=200bp - G frameshift_variant S249T? STAD-US 19 3013795 3013795 insertion of <=200bp - G frameshift_variant S250T? STAD-US 19 3013795 3013795 insertion of <=200bp - G frameshift_variant S263T? STAD-US 19 3013795 3013795 insertion of <=200bp - G intron_variant STAD-US 19 3013795 3013795 insertion of <=200bp - G upstream_gene_variant STAD-US 19 3013796 3013796 insertion of <=200bp - G 5_prime_UTR_variant STAD-US 19 3013796 3013796 insertion of <=200bp - G downstream_gene_variant STAD-US 19 3013796 3013796 insertion of <=200bp - G exon_variant STAD-US 19 3013796 3013796 insertion of <=200bp - G frameshift_variant P126P? STAD-US 19 3013796 3013796 insertion of <=200bp - G frameshift_variant P128P? STAD-US 19 3013796 3013796 insertion of <=200bp - G frameshift_variant P248P? STAD-US 19 3013796 3013796 insertion of <=200bp - G frameshift_variant P249P? STAD-US 19 3013796 3013796 insertion of <=200bp - G frameshift_variant P262P? STAD-US 19 3013796 3013796 insertion of <=200bp - G intron_variant STAD-US 19 3013796 3013796 insertion of <=200bp - G upstream_gene_variant STAD-US 19 3028733 3028735 deletion of <=200bp TTC - 5_prime_UTR_variant STAD-US 19 3028733 3028735 deletion of <=200bp TTC - exon_variant STAD-US 19 3028733 3028735 deletion of <=200bp TTC - inframe_deletion E24 STAD-US 19 3028733 3028735 deletion of <=200bp TTC - inframe_deletion E31 STAD-US 19 3028733 3028735 deletion of <=200bp TTC - inframe_deletion E44 STAD-US 19 3028733 3028735 deletion of <=200bp TTC - upstream_gene_variant STAD-US 19 3028785 3028785 single base substitution C T 5_prime_UTR_variant STAD-US 19 3028785 3028785 single base substitution C T exon_variant STAD-US 19 3028785 3028785 single base substitution C T missense_variant G14D 41G>A STAD-US 19 3028785 3028785 single base substitution C T missense_variant G27D 80G>A STAD-US 19 3028785 3028785 single base substitution C T missense_variant G7D 20G>A STAD-US 19 3028785 3028785 single base substitution C T upstream_gene_variant STAD-US 19 3028804 3028804 deletion of <=200bp G - 5_prime_UTR_variant STAD-US 19 3028804 3028804 deletion of <=200bp G - splice_region_variant STAD-US 19 3028804 3028804 deletion of <=200bp G - upstream_gene_variant STAD-US 19 3028804 3028804 insertion of <=200bp - G 5_prime_UTR_variant STAD-US 19 3028804 3028804 insertion of <=200bp - G splice_region_variant STAD-US 19 3028804 3028804 insertion of <=200bp - G upstream_gene_variant UCEC-US 19 2993570 2993570 single base substitution C A downstream_gene_variant UCEC-US 19 2994089 2994089 single base substitution T C downstream_gene_variant UCEC-US 19 2994930 2994930 single base substitution C T downstream_gene_variant UCEC-US 19 2997883 2997883 single base substitution C A 3_prime_UTR_variant UCEC-US 19 2997883 2997883 single base substitution C A downstream_gene_variant UCEC-US 19 2997883 2997883 single base substitution C A intron_variant UCEC-US 19 2997883 2997883 single base substitution C A missense_variant G399V 1196G>T UCEC-US 19 2997883 2997883 single base substitution C A missense_variant G610V 1829G>T UCEC-US 19 2997883 2997883 single base substitution C A missense_variant G732V 2195G>T UCEC-US 19 2997883 2997883 single base substitution C A missense_variant G733V 2198G>T UCEC-US 19 3002502 3002502 single base substitution C A downstream_gene_variant UCEC-US 19 3002502 3002502 single base substitution C A intron_variant UCEC-US 19 3002502 3002502 single base substitution C A splice_acceptor_variant UCEC-US 19 3005537 3005537 single base substitution G A downstream_gene_variant UCEC-US 19 3005537 3005537 single base substitution G A intron_variant UCEC-US 19 3005537 3005537 single base substitution G A synonymous_variant S246S 738C>T UCEC-US 19 3005537 3005537 single base substitution G A synonymous_variant S265S 795C>T UCEC-US 19 3005537 3005537 single base substitution G A synonymous_variant S476S 1428C>T UCEC-US 19 3005537 3005537 single base substitution G A synonymous_variant S598S 1794C>T UCEC-US 19 3005537 3005537 single base substitution G A synonymous_variant S599S 1797C>T UCEC-US 19 3005537 3005537 single base substitution G A synonymous_variant S612S 1836C>T UCEC-US 19 3005920 3005920 single base substitution C T downstream_gene_variant UCEC-US 19 3005920 3005920 single base substitution C T exon_variant UCEC-US 19 3005920 3005920 single base substitution C T intron_variant UCEC-US 19 3005920 3005920 single base substitution C T missense_variant R164Q 491G>A UCEC-US 19 3005920 3005920 single base substitution C T missense_variant R183Q 548G>A UCEC-US 19 3005920 3005920 single base substitution C T missense_variant R394Q 1181G>A UCEC-US 19 3005920 3005920 single base substitution C T missense_variant R516Q 1547G>A UCEC-US 19 3005920 3005920 single base substitution C T missense_variant R517Q 1550G>A UCEC-US 19 3005920 3005920 single base substitution C T missense_variant R530Q 1589G>A UCEC-US 19 3006493 3006493 single base substitution G A downstream_gene_variant UCEC-US 19 3006493 3006493 single base substitution G A exon_variant UCEC-US 19 3006493 3006493 single base substitution G A intron_variant UCEC-US 19 3006493 3006493 single base substitution G A synonymous_variant G123G 369C>T UCEC-US 19 3006493 3006493 single base substitution G A synonymous_variant G142G 426C>T UCEC-US 19 3006493 3006493 single base substitution G A synonymous_variant G353G 1059C>T UCEC-US 19 3006493 3006493 single base substitution G A synonymous_variant G475G 1425C>T UCEC-US 19 3006493 3006493 single base substitution G A synonymous_variant G476G 1428C>T UCEC-US 19 3006493 3006493 single base substitution G A synonymous_variant G489G 1467C>T UCEC-US 19 3019708 3019708 single base substitution T C 5_prime_UTR_variant UCEC-US 19 3019708 3019708 single base substitution T C exon_variant UCEC-US 19 3019708 3019708 single base substitution T C intron_variant UCEC-US 19 3019708 3019708 single base substitution T C missense_variant S120G 358A>G UCEC-US 19 3019708 3019708 single base substitution T C missense_variant S133G 397A>G UCEC-US 19 3019708 3019708 single base substitution T C missense_variant S24G 70A>G UCEC-US 19 3019708 3019708 single base substitution T C missense_variant S65G 193A>G UCEC-US 19 3019708 3019708 single base substitution T C upstream_gene_variant UCEC-US 19 3019723 3019723 single base substitution C T 5_prime_UTR_premature_start_codon_gain_variant UCEC-US 19 3019723 3019723 single base substitution C T exon_variant UCEC-US 19 3019723 3019723 single base substitution C T intron_variant UCEC-US 19 3019723 3019723 single base substitution C T missense_variant V115M 343G>A UCEC-US 19 3019723 3019723 single base substitution C T missense_variant V128M 382G>A UCEC-US 19 3019723 3019723 single base substitution C T missense_variant V19M 55G>A UCEC-US 19 3019723 3019723 single base substitution C T missense_variant V60M 178G>A UCEC-US 19 3019723 3019723 single base substitution C T upstream_gene_variant

Mutation - COSMIC Sample Name Mutation ID Mutation CDS Mutation AA Mutation Description Mutation Genome Position Mutation Strand 587220 COSM1229337 c.1985C>T p.P662L Substitution - Missense 19:3002415-3002415 - DLD1 COSM2749981 c.1852C>A p.L618M Substitution - Missense 19:3005481-3005481 - HCA7 COSM4612090 c.1135_1136insC p.Q379fs*17 Insertion - Frameshift 19:3009579-3009580 - SNU-C4 COSM4653090 c.2035T>G p.F679V Substitution - Missense 19:3002365-3002365 - BD236T COSM5519577 c.1601C>T p.A534V Substitution - Missense 19:3005868-3005868 - ICC014T COSM5823611 c.1071C>T p.S357S Substitution - coding silent 19:3009644-3009644 - TCGA-F4-6703-01 COSM5172502 c.744delC p.S249fs*43 Deletion - Frameshift 19:3013798-3013798 - 2492722 COSM5722780 c.2141C>T p.S714L Substitution - Missense 19:2997939-2997939 - ESCC-038T COSM3937994 c.740C>T p.P247L Substitution - Missense 19:3013802-3013802 - TCGA-EE-A2GC-06 COSM2749992 c.1557C>T p.I519I Substitution - coding silent 19:3005912-3005912 - S02292 COSM5687618 c.759C>A p.T253T Substitution - coding silent 19:3013783-3013783 - MB_Exm999 COSM307143 c.495G>A p.Q165Q Substitution - coding silent 19:3019338-3019338 - TCGA-AC-A23H-01 COSM3822612 c.2155G>C p.D719H Substitution - Missense 19:2997925-2997925 - C0007T COSM4154152 c.2202G>T p.K734N Substitution - Missense 19:2997878-2997878 - TCGA-BR-6452-01 COSM4076561 c.1544G>A p.G515D Substitution - Missense 19:3005925-3005925 - PD6729a2 COSM4076557 c.1766C>T p.T589M Substitution - Missense 19:3005567-3005567 - ESCC_13 COSM5625203 c.1617C>T p.I539I Substitution - coding silent 19:3005852-3005852 - TCGA-NH-A6GB-01 COSM5184956 c.1864C>T p.R622C Substitution - Missense 19:3005469-3005469 - 2492729 COSM5725836 c.1604C>T p.P535L Substitution - Missense 19:3005865-3005865 - TCGA-AZ-4313-01 COSM5137718 c.1135delC p.Q379fs*13 Deletion - Frameshift 19:3009580-3009580 - 2492709 COSM5717977 c.1737G>A p.Q579Q Substitution - coding silent 19:3005732-3005732 - BD21T COSM5495557 c.1323C>T p.G441G Substitution - coding silent 19:3006597-3006597 - C086 COSM5540401 c.2048-1G>A p.? Unknown 19:3000724-3000724 - CSCC-29-T COSM4534256 c.2068G>A p.G690R Substitution - Missense 19:3000703-3000703 - 2492721 COSM5724309 c.200C>T p.S67L Substitution - Missense 19:3027860-3027860 - tumor_4166503 COSM5950208 c.521G>A p.R174H Substitution - Missense 19:3019312-3019312 - TCGA-FW-A3R5-06 COSM3892205 c.1422G>A p.T474T Substitution - coding silent 19:3006498-3006498 - TCGA-BR-4256-01 COSM4076582 c.41G>A p.G14D Substitution - Missense 19:3028787-3028787 - T2583 COSM4733896 c.1894C>T p.Q632* Substitution - Nonsense 19:3005439-3005439 - TCGA-CK-4951-01 COSM5149799 c.117C>T p.Y39Y Substitution - coding silent 19:3028711-3028711 - TCGA-BR-8366-01 COSM4076557 c.1766C>T p.T589M Substitution - Missense 19:3005567-3005567 - Pat_16_B COSM5855359 c.1501-1G>A p.? Unknown 19:3005969-3005969 - T55 COSM4733899 c.178T>C p.Y60H Substitution - Missense 19:3028327-3028327 - 8069321 COSM4388335 c.1376T>G p.V459G Substitution - Missense 19:3006544-3006544 - SJHGG077_A COSM4969876 c.319G>A p.V107I Substitution - Missense 19:3019749-3019749 - TCGA-32-4211-01 COSM3404074 c.830C>T p.S277F Substitution - Missense 19:3013712-3013712 - OSCC-GB_01230111 COSM5955403 c.1680G>A p.K560K Substitution - coding silent 19:3005789-3005789 - TCGA-A6-6653-01 COSM1392328 c.1001C>T p.T334M Substitution - Missense 19:3011033-3011033 - TCGA-GN-A267-06 COSM3532004 c.1131C>T p.S377S Substitution - coding silent 19:3009584-3009584 - TCGA-39-5031-01 COSM710559 c.1771G>A p.G591S Substitution - Missense 19:3005562-3005562 - TCGA-EE-A3AG-06 COSM3532003 c.1173+1G>A p.? Unknown 19:3009541-3009541 - TCGA-C5-A7UH-01 COSM4856861 c.1793C>T p.S598F Substitution - Missense 19:3005540-3005540 - TCGA-BR-7707-01 COSM3404073 c.1520G>A p.R507H Substitution - Missense 19:3005949-3005949 - T3724 COSM2750011 c.1076G>A p.S359N Substitution - Missense 19:3009639-3009639 - 0122_CRUK_PC_0122_T1_DNA COSM2749963 c.2136G>A p.S712S Substitution - coding silent 19:2997944-2997944 - TCGA-AD-6964-01 COSM1180869 c.25-3delC p.? Unknown 19:3028806-3028806 - YUMUL COSM5389292 c.1336C>G p.R446G Substitution - Missense 19:3006584-3006584 - ESCC_143 COSM5650109 c.25-2_25-1insC p.? Unknown 19:3028804-3028805 - BD124T COSM5493765 c.2051G>A p.R684Q Substitution - Missense 19:3000720-3000720 - TCGA-EB-A431-01 COSM3531998 c.1948G>T p.E650* Substitution - Nonsense 19:3002452-3002452 - TCGA-HU-A4GX-01 COSM4076562 c.1308G>A p.S436S Substitution - coding silent 19:3006612-3006612 - OSCC-GB_00640111 COSM4885288 c.1523C>A p.S508Y Substitution - Missense 19:3005946-3005946 - C0069T COSM4154153 c.24+8C>G p.? Unknown 19:3028873-3028873 - TCGA-IR-A3LH-01 COSM4832404 c.261C>G p.I87M Substitution - Missense 19:3025053-3025053 - 2492723 COSM2750037 c.589C>T p.P197S Substitution - Missense 19:3015742-3015742 - GC2_T COSM3748678 c.2198A>G p.D733G Substitution - Missense 19:2997882-2997882 - CSCC-5-T COSM4470338 c.1612C>T p.R538C Substitution - Missense 19:3005857-3005857 - CSCC-44-T COSM4470279 c.1608C>T p.T536T Substitution - coding silent 19:3005861-3005861 - S02291 COSM5686993 c.422G>T p.R141L Substitution - Missense 19:3019411-3019411 - T3202 COSM4733900 c.18G>A p.R6R Substitution - coding silent 19:3028887-3028887 - BZ24 COSM1180869 c.25-3delC p.? Unknown 19:3028806-3028806 - TCGA-FW-A3R5-06 COSM3892204 c.1676C>T p.A559V Substitution - Missense 19:3005793-3005793 - TCGA-EE-A2MC-06 COSM3532010 c.761C>T p.P254L Substitution - Missense 19:3013781-3013781 - Au4 COSM5605132 c.1507G>A p.D503N Substitution - Missense 19:3005962-3005962 - TCGA-F1-A448-01 COSM4076559 c.1663G>A p.V555I Substitution - Missense 19:3005806-3005806 - HCA7 COSM4612091 c.590_591insC p.E198fs*1 Insertion - Frameshift 19:3015740-3015741 - LP6005409-DNA_C02 COSM5952427 c.2033A>C p.K678T Substitution - Missense 19:3002367-3002367 - CHEWS001 COSM4580895 c.575C>T p.A192V Substitution - Missense 19:3015756-3015756 - Pat_16_A COSM5855359 c.1501-1G>A p.? Unknown 19:3005969-3005969 - TCGA-HU-A4GT-01 COSM4076559 c.1663G>A p.V555I Substitution - Missense 19:3005806-3005806 - YUNEXUS COSM3532001 c.1689C>T p.F563F Substitution - coding silent 19:3005780-3005780 - TCGA-60-2719-01 COSM710556 c.1346G>C p.R449P Substitution - Missense 19:3006574-3006574 - TCGA-66-2778-01 COSM710551 c.106C>T p.Q36* Substitution - Nonsense 19:3028722-3028722 - ESO-152 COSM1267879 c.133G>T p.E45* Substitution - Nonsense 19:3028372-3028372 - 3N25-VS-3T25 COSM4979954 c.1546C>T p.R516W Substitution - Missense 19:3005923-3005923 - OSCC-GB_00800111 COSM4887928 c.1455G>T p.V485V Substitution - coding silent 19:3006465-3006465 - sysucc-1397T COSM5474127 c.1938G>A p.A646A Substitution - coding silent 19:3002462-3002462 - RK308_C01 COSM3742879 c.1251-1G>A p.? Unknown 19:3006670-3006670 - RMS88_ COSM4988934 c.382C>T p.P128S Substitution - Missense 19:3019451-3019451 - 2492723 COSM5722780 c.2141C>T p.S714L Substitution - Missense 19:2997939-2997939 - 61 COSM5741342 c.2047G>A p.G683R Substitution - Missense 19:3002353-3002353 - TCGA-G4-6304-01 COSM1392329 c.947G>A p.G316E Substitution - Missense 19:3011087-3011087 - TCGA-GN-A266-06 COSM3532005 c.1044C>T p.P348P Substitution - coding silent 19:3009671-3009671 - ESO-887 COSM1267880 c.665C>T p.P222L Substitution - Missense 19:3015666-3015666 - TCGA-AA-3858-01 COSM295930 c.1823_1824insG p.L609fs*20 Insertion - Frameshift 19:3005509-3005510 - TCGA-AZ-4615-01 COSM5828836 c.25-3_25-2insC p.? Unknown 19:3028805-3028806 - TCGA-CK-5916-01 COSM1180869 c.25-3delC p.? Unknown 19:3028806-3028806 - TCGA-EE-A2GR-06 COSM3532001 c.1689C>T p.F563F Substitution - coding silent 19:3005780-3005780 - LUAD_E00623 COSM353997 c.1251G>T p.P417P Substitution - coding silent 19:3006669-3006669 - TCGA-AC-A23H-01 COSM3422631 c.1672G>A p.D558N Substitution - Missense 19:3005797-3005797 - TCGA-D1-A15X-01 COSM994374 c.2195G>T p.G732V Substitution - Missense 19:2997885-2997885 - TCGA-IR-A3LK-01 COSM4817618 c.668C>G p.S223* Substitution - Nonsense 19:3015663-3015663 - LIM1215 COSM4336489 c.1612_1613insC p.R538fs*59 Insertion - Frameshift 19:3005856-3005857 - 2492720 COSM2750037 c.589C>T p.P197S Substitution - Missense 19:3015742-3015742 - YURAY COSM5389293 c.1244G>A p.G415E Substitution - Missense 19:3008875-3008875 - TCGA-EE-A20H-06 COSM3532000 c.1828G>A p.D610N Substitution - Missense 19:3005505-3005505 - TCGA-A5-A0VP-01 COSM994377 c.1794C>T p.S598S Substitution - coding silent 19:3005539-3005539 - RKO COSM2750002 c.1216T>G p.S406A Substitution - Missense 19:3008903-3008903 - TCGA-EE-A3AG-06 COSM3531997 c.1996C>T p.Q666* Substitution - Nonsense 19:3002404-3002404 - TCGA-60-2719-01 COSM710558 c.1347G>T p.R449R Substitution - coding silent 19:3006573-3006573 - SNU-C4 COSM4615628 c.2042_2043insA p.C682fs*38 Insertion - Frameshift 19:3002357-3002358 - ESO-859 COSM1240420 c.325C>T p.R109C Substitution - Missense 19:3019743-3019743 - TCGA-DK-A2I4-01 COSM3796905 c.555G>A p.E185E Substitution - coding silent 19:3017855-3017855 - SC_9047 COSM5555802 c.1801G>A p.G601S Substitution - Missense 19:3005532-3005532 - OSCC-GB_00970111 COSM4889650 c.1609C>T p.P537S Substitution - Missense 19:3005860-3005860 - TCGA-AP-A0LM-01 COSM994378 c.1547G>A p.R516Q Substitution - Missense 19:3005922-3005922 - 2492721 COSM5722780 c.2141C>T p.S714L Substitution - Missense 19:2997939-2997939 - TCGA-CG-5726-01 COSM4076558 c.1701C>T p.S567S Substitution - coding silent 19:3005768-3005768 - TCGA-DA-A1IA-06 COSM3531999 c.1858G>A p.E620K Substitution - Missense 19:3005475-3005475 - TCGA-G4-6302-01 COSM3692592 c.1460A>G p.Q487R Substitution - Missense 19:3006460-3006460 - LIM1215 COSM4281119 c.204C>T p.Y68Y Substitution - coding silent 19:3027856-3027856 - ccRCC-99 COSM1665994 c.1500+2T>A p.? Unknown 19:3006418-3006418 - HCT15 COSM2749981 c.1852C>A p.L618M Substitution - Missense 19:3005481-3005481 - TCGA-A5-A0VP-01 COSM994391 c.343G>A p.V115M Substitution - Missense 19:3019725-3019725 - TCGA-EE-A20C-06 COSM3532002 c.1279G>A p.G427R Substitution - Missense 19:3006641-3006641 - TCGA-A6-3807-01 COSM291305 c.354G>A p.L118L Substitution - coding silent 19:3019714-3019714 - YUKAT COSM5389291 c.1365C>T p.A455A Substitution - coding silent 19:3006555-3006555 - SNU-C4 COSM4653091 c.513G>A p.K171K Substitution - coding silent 19:3019320-3019320 - SNUH_G45_S1 COSM4000644 c.2181C>T p.I727I Substitution - coding silent 19:2997899-2997899 - TCGA-EI-6917-01 COSM3422631 c.1672G>A p.D558N Substitution - Missense 19:3005797-3005797 - CRC-03T COSM5451513 c.1749-3C>T p.? Unknown 19:3005587-3005587 - CLL080 COSM1290920 c.724G>A p.D242N Substitution - Missense 19:3013818-3013818 - YUSCA COSM5389290 c.1847G>A p.W616* Substitution - Nonsense 19:3005486-3005486 - TCGA-B6-A0X1-01 COSM439171 c.154G>A p.E52K Substitution - Missense 19:3028351-3028351 - T2197 COSM4733897 c.1335G>A p.P445P Substitution - coding silent 19:3006585-3006585 - TCGA-CM-6162-01 COSM1392326 c.1452C>T p.D484D Substitution - coding silent 19:3006468-3006468 - 587224 COSM1180869 c.25-3delC p.? Unknown 19:3028806-3028806 - 8012341 COSM3388826 c.334C>T p.Q112* Substitution - Nonsense 19:3019734-3019734 - YURAY COSM5389294 c.709C>T p.L237L Substitution - coding silent 19:3014584-3014584 - TCGA-EI-6917-01 COSM2750034 c.688G>A p.E230K Substitution - Missense 19:3014605-3014605 - TCGA-AA-3821-01 COSM294888 c.945delC p.S318fs*22 Deletion - Frameshift 19:3011089-3011089 - 61 COSM5741343 c.247C>T p.R83C Substitution - Missense 19:3025067-3025067 - pfg127T COSM4748818 c.959C>T p.A320V Substitution - Missense 19:3011075-3011075 - TCGA-AA-3663-01 COSM1392325 c.1623C>T p.A541A Substitution - coding silent 19:3005846-3005846 - OSCC-GB_01060111 COSM4882392 c.765C>A p.C255* Substitution - Nonsense 19:3013777-3013777 - 8015109 COSM4781666 c.1540G>A p.D514N Substitution - Missense 19:3005929-3005929 - TCGA-D1-A167-01 COSM994390 c.358A>G p.S120G Substitution - Missense 19:3019710-3019710 - ESO-0079 COSM1267877 c.1360_1372del13 p.L454fs*23 Deletion - Frameshift 19:3006548-3006560 - TCGA-A6-6653-01 COSM1392327 c.1027delC p.L343fs*1 Deletion - Frameshift 19:3009688-3009688 - 2492708 COSM5717977 c.1737G>A p.Q579Q Substitution - coding silent 19:3005732-3005732 - SS6003302 COSM3414038 c.625C>T p.P209S Substitution - Missense 19:3015706-3015706 - 14_T COSM3959874 c.1529A>C p.K510T Substitution - Missense 19:3005940-3005940 - TCGA-CK-5916-01 COSM3692593 c.635G>A p.G212D Substitution - Missense 19:3015696-3015696 - TCGA-HU-A4GQ-01 COSM2750010 c.1086C>T p.N362N Substitution - coding silent 19:3009629-3009629 - TCGA-FS-A1ZT-06 COSM3532008 c.942C>T p.T314T Substitution - coding silent 19:3011092-3011092 - CSCC-38-T COSM4476858 c.2102C>T p.P701L Substitution - Missense 19:3000669-3000669 - SJACT02_D COSM4968381 c.771G>T p.K257N Substitution - Missense 19:3013771-3013771 - 2492720 COSM5722780 c.2141C>T p.S714L Substitution - Missense 19:2997939-2997939 - TCGA-14-1034-02 COSM3404073 c.1520G>A p.R507H Substitution - Missense 19:3005949-3005949 - 2492722 COSM2750037 c.589C>T p.P197S Substitution - Missense 19:3015742-3015742 - RK308_C01 COSM3742881 c.288C>A p.T96T Substitution - coding silent 19:3025026-3025026 - HCC113T COSM5808424 c.2048-2A>G p.? Unknown 19:3000725-3000725 - RMS85_ COSM4988934 c.382C>T p.P128S Substitution - Missense 19:3019451-3019451 - T3503 COSM4733895 c.2119T>C p.F707L Substitution - Missense 19:3000652-3000652 - TCGA-DK-A2I4-01 COSM3796906 c.357C>G p.N119K Substitution - Missense 19:3019711-3019711 - 2492722 COSM5724309 c.200C>T p.S67L Substitution - Missense 19:3027860-3027860 - TCGA-EE-A3JA-06 COSM3532014 c.532G>A p.E178K Substitution - Missense 19:3019301-3019301 - TCGA-BH-A0H0-01 COSM5833697 c.744_745insC p.S249fs*30 Insertion - Frameshift 19:3013797-3013798 - C086 COSM5540400 c.367G>A p.G123R Substitution - Missense 19:3019701-3019701 - TCGA-CM-6674-01 COSM4336489 c.1612_1613insC p.R538fs*59 Insertion - Frameshift 19:3005856-3005857 - TCGA-CD-A4MG-01 COSM4076560 c.1595T>C p.L532P Substitution - Missense 19:3005874-3005874 - PR-00-1165 COSM247840 c.1671C>T p.P557P Substitution - coding silent 19:3005798-3005798 - 2492720 COSM5724309 c.200C>T p.S67L Substitution - Missense 19:3027860-3027860 - ATL056 COSM5706954 c.326G>A p.R109H Substitution - Missense 19:3019742-3019742 - T595 COSM4733898 c.522T>C p.R174R Substitution - coding silent 19:3019311-3019311 - TCGA-EE-A2GO-06 COSM3532009 c.896C>T p.P299L Substitution - Missense 19:3011138-3011138 - ESO-117 COSM1267878 c.1399G>T p.G467C Substitution - Missense 19:3006521-3006521 - TCGA-FP-A4BE-01 COSM4076563 c.1171G>A p.V391M Substitution - Missense 19:3009544-3009544 - Au9 COSM5607647 c.902C>T p.S301F Substitution - Missense 19:3011132-3011132 - sysucc-936T COSM4154153 c.24+8C>G p.? Unknown 19:3028873-3028873 - YUOMEGA COSM5389295 c.188A>T p.Y63F Substitution - Missense 19:3027872-3027872 - 2492721 COSM2750037 c.589C>T p.P197S Substitution - Missense 19:3015742-3015742 - PD13620a COSM5783641 c.221T>C p.M74T Substitution - Missense 19:3027839-3027839 - TCGA-D5-6530-01 COSM4281119 c.204C>T p.Y68Y Substitution - coding silent 19:3027856-3027856 - TCGA-D1-A0ZO-01 COSM994379 c.1425C>T p.G475G Substitution - coding silent 19:3006495-3006495 - HCC058T COSM5804032 c.43C>T p.Q15* Substitution - Nonsense 19:3028785-3028785 - TCGA-D7-A4YY-01 COSM4076564 c.1170C>T p.P390P Substitution - coding silent 19:3009545-3009545 - 2492723 COSM5724309 c.200C>T p.S67L Substitution - Missense 19:3027860-3027860 - TCGA-BR-7851-01 COSM4076565 c.1013-2A>G p.? Unknown 19:3009704-3009704 - TCGA-BS-A0TC-01 COSM994375 c.1897-1G>T p.? Unknown 19:3002504-3002504 - C608 COSM4442818 c.998C>A p.S333Y Substitution - Missense 19:3011036-3011036 - I2L-P25-Tumor-Organoid COSM5365374 c.1159G>A p.G387R Substitution - Missense 19:3009556-3009556 - 587376 COSM1229338 c.245A>G p.K82R Substitution - Missense 19:3025069-3025069 - 2492710 COSM5717977 c.1737G>A p.Q579Q Substitution - coding silent 19:3005732-3005732 - TCGA-D3-A51G-06 COSM3531996 c.2094G>A p.W698* Substitution - Nonsense 19:3000677-3000677 - pfg143T COSM2749991 c.1612delC p.R538fs*6 Deletion - Frameshift 19:3005857-3005857 - sysucc-825T COSM5485247 c.1501-10C>T p.? Unknown 19:3005978-3005978 - HCT8 COSM2749981 c.1852C>A p.L618M Substitution - Missense 19:3005481-3005481 -

Mutation - CGAP UNIGENE CYTOBAND OMIM SNP Hs.332173 19p13.3 601041

Mutation - IntOGen Mutated from(ref) Mutated to(alt) Consequence Type AA Mutation CDS Mutation Chr Pos Cancer A G IntronicSNV . c.294+1138T>C 19 3023880 CLL C A Missense p.G467C c.1399G>T 19 3006519 ESCA C A Nonsense p.E45* c.133G>T 19 3028370 ESCA C A SpliceAcceptorSNV . c.1897-1G>T 19 3002502 UCEC C A Synonymous p.R449R c.1347G>T 19 3006571 LUSC C A Synonymous p.T54T c.162G>T 19 3028341 HNSC C A Synonymous p.V367V c.1101G>T 19 3009612 HNSC - C Frameshift p.L609Pfs*20 c.1823dupG 19 3005508 COREAD CGCCATGGGCCAG - Frameshift p.L454Rfs*23 c.1360_1372delCTGGCCCATGGCG 19 3006546 ESCA C G Missense p.R449P c.1346G>C 19 3006572 LUSC C T Missense p.D242N c.724G>A 19 3013816 CLL C T Missense p.D610N c.1828G>A 19 3005503 CM C T Missense p.E178K c.532G>A 19 3019299 CM C T Missense p.E52K c.154G>A 19 3028349 BRCA C T Missense p.E620K c.1858G>A 19 3005473 CM C T Missense p.G14D c.41G>A 19 3028785 STAD C T Missense p.G427R c.1279G>A 19 3006639 CM C T Missense p.G591S c.1771G>A 19 3005560 LUSC C T Missense p.G5E c.14G>A 19 3028889 CM C T Missense p.R507H c.1520G>A 19 3005947 GBM C T Missense p.V115M c.343G>A 19 3019723 UCEC C T SpliceDonorSNV . c.1173+1G>A 19 3009539 CM C T Synonymous p.E185E c.555G>A 19 3017853 BLCA C T Synonymous p.L118L c.354G>A 19 3019712 COREAD G A Missense p.P222L c.665C>T 19 3015664 ESCA G A Missense p.P254L c.761C>T 19 3013779 CM G A Missense p.P299L c.896C>T 19 3011136 CM G A Missense p.S277F c.830C>T 19 3013710 GBM G A Missense p.T114I c.341C>T 19 3019725 CM G A Nonsense p.Q36* c.106C>T 19 3028720 LUSC G A Nonsense p.Q666* c.1996C>T 19 3002402 CM G A Synonymous p.F563F c.1689C>T 19 3005778 CM G A Synonymous p.G475G c.1425C>T 19 3006493 UCEC G A Synonymous p.H322H c.966C>T 19 3011066 HNSC G A Synonymous p.I519I c.1557C>T 19 3005910 CM G A Synonymous p.S377S c.1131C>T 19 3009582 CM G A Synonymous p.S528S c.1584C>T 19 3005883 CM G A Synonymous p.S567S c.1701C>T 19 3005766 STAD G A Synonymous p.S598S c.1794C>T 19 3005537 UCEC G A Synonymous p.T314T c.942C>T 19 3011090 CM G C Missense p.H670Q c.2010C>G 19 3002388 HNSC G C Missense p.N119K c.357C>G 19 3019709 BLCA - G IntronicInsertion . c.25-3dupC 19 3028804 OV