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 50411564 50411564 + Missense_Mutation SNP C C T TCGA-FD-A6TH-01A-11D-A32B-08 TCGA-FD-A6TH-10A-01D-A329-08 g.chr19:50411564C>T c.1501G>A c.(1501-1503)Gag>Aag p.E501K BLCA 19 50412023 50412023 + Missense_Mutation SNP C C T TCGA-XF-AAN7-01A-11D-A42E-08 TCGA-XF-AAN7-10A-01D-A42H-08 g.chr19:50412023C>T c.1042G>A c.(1042-1044)Gag>Aag p.E348K BLCA 19 50412038 50412038 + Missense_Mutation SNP C C G TCGA-XF-A9T5-01A-11D-A42E-08 TCGA-XF-A9T5-10A-01D-A42H-08 g.chr19:50412038C>G c.1027G>C c.(1027-1029)Gag>Cag p.E343Q BLCA 19 50412045 50412045 + Missense_Mutation SNP C C A TCGA-DK-A1AC-01A-11D-A13W-08 TCGA-DK-A1AC-10A-01D-A13W-08 g.chr19:50412045C>A c.1020G>T c.(1018-1020)tgG>tgT p.W340C BRCA 19 50411501 50411501 + Missense_Mutation SNP C C G TCGA-A2-A0YM-01A-11D-A10G-09 TCGA-A2-A0YM-10A-01D-A10G-09 g.chr19:50411501C>G c.1564G>C c.(1564-1566)Gac>Cac p.D522H BRCA 19 50411867 50411867 + Nonsense_Mutation SNP G G A TCGA-AN-A0AK-01A-21W-A019-09 TCGA-AN-A0AK-10A-01W-A021-09 g.chr19:50411867G>A c.1198C>T c.(1198-1200)Cag>Tag p.Q400* BRCA 19 50412334 50412334 + Missense_Mutation SNP G G A TCGA-AC-A3W5-01A-11D-A228-09 TCGA-AC-A3W5-10A-01D-A22A-09 g.chr19:50412334G>A c.731C>T c.(730-732)aCc>aTc p.T244I BRCA 19 50412785 50412785 + Missense_Mutation SNP C C A TCGA-A1-A0SJ-01A-11D-A099-09 TCGA-A1-A0SJ-10A-02D-A099-09 g.chr19:50412785C>A c.280G>T c.(280-282)Gct>Tct p.A94S BRCA 19 50412810 50412811 + Frame_Shift_Ins INS - - C TCGA-BH-A18G-01A-11D-A12B-09 TCGA-BH-A18G-10A-01D-A12B-09 g.chr19:50412810_50412811insC c.254_255insG c.(253-255)ggafs p.G85fs CESC 19 50411685 50411685 + Silent SNP C C T TCGA-Q1-A5R3-01A-11D-A28B-09 TCGA-Q1-A5R3-10B-01D-A28E-09 g.chr19:50411685C>T c.1380G>A c.(1378-1380)acG>acA p.T460T CESC 19 50411753 50411753 + Missense_Mutation SNP C C T TCGA-C5-A1MK-01A-11D-A14W-08 TCGA-C5-A1MK-10A-01D-A14W-08 g.chr19:50411753C>T c.1312G>A c.(1312-1314)Gag>Aag p.E438K CESC 19 50412023 50412023 + Missense_Mutation SNP C C T TCGA-Q1-A73O-01A-11D-A32I-09 TCGA-Q1-A73O-10B-01D-A32I-09 g.chr19:50412023C>T c.1042G>A c.(1042-1044)Gag>Aag p.E348K CESC 19 50412866 50412866 + Missense_Mutation SNP G G C TCGA-IR-A3LA-01A-11D-A22X-09 TCGA-IR-A3LA-10A-01D-A22X-09 g.chr19:50412866G>C c.199C>G c.(199-201)Ccg>Gcg p.P67A CESC 19 50412967 50412967 + Missense_Mutation SNP G G T TCGA-FU-A3HZ-01A-11D-A20U-09 TCGA-FU-A3HZ-10A-01D-A20U-09 g.chr19:50412967G>T c.98C>A c.(97-99)tCt>tAt p.S33Y COAD 19 50412028 50412028 + Missense_Mutation SNP T T C TCGA-AY-6197-01A-11D-1719-10 TCGA-AY-6197-10A-01D-1719-10 g.chr19:50412028T>C c.1037A>G c.(1036-1038)gAc>gGc p.D346G COAD 19 50412113 50412113 + Missense_Mutation SNP C C T TCGA-AA-3947-01A-01W-0995-10 TCGA-AA-3947-10A-01W-0995-10 g.chr19:50412113C>T c.952G>A c.(952-954)Gca>Aca p.A318T COAD 19 50412228 50412230 + In_Frame_Del DEL GGC GGC - TCGA-CK-6747-01A-11D-1835-10 TCGA-CK-6747-10A-01D-1835-10 g.chr19:50412228_50412230delGGC c.835_837delGCC c.(835-837)gccdel p.A279del COAD 19 50412230 50412230 + Missense_Mutation SNP C C T TCGA-CK-6747-01A-11D-1835-10 TCGA-CK-6747-10A-01D-1835-10 g.chr19:50412230C>T c.835G>A c.(835-837)Gcc>Acc p.A279T COAD 19 50412397 50412397 + Missense_Mutation SNP G G T TCGA-AA-A01R-01A-21W-A096-10 TCGA-AA-A01R-11A-12W-A096-10 g.chr19:50412397G>T c.668C>A c.(667-669)gCg>gAg p.A223E COADREAD 19 50411700 50411700 + Silent SNP G G A TCGA-AG-A002-01A-01W-A00K-09 TCGA-AG-A002-10A-01W-A00K-09 g.chr19:50411700G>A c.1365C>T c.(1363-1365)atC>atT p.I455I COADREAD 19 50412028 50412028 + Missense_Mutation SNP T T C TCGA-AY-6197-01A-11D-1719-10 TCGA-AY-6197-10A-01D-1719-10 g.chr19:50412028T>C c.1037A>G c.(1036-1038)gAc>gGc p.D346G COADREAD 19 50412113 50412113 + Missense_Mutation SNP C C T TCGA-AA-3947-01A-01W-0995-10 TCGA-AA-3947-10A-01W-0995-10 g.chr19:50412113C>T c.952G>A c.(952-954)Gca>Aca p.A318T COADREAD 19 50412228 50412230 + In_Frame_Del DEL GGC GGC - TCGA-CK-6747-01A-11D-1835-10 TCGA-CK-6747-10A-01D-1835-10 g.chr19:50412228_50412230delGGC c.835_837delGCC c.(835-837)gccdel p.A279del COADREAD 19 50412230 50412230 + Missense_Mutation SNP C C T TCGA-CK-6747-01A-11D-1835-10 TCGA-CK-6747-10A-01D-1835-10 g.chr19:50412230C>T c.835G>A c.(835-837)Gcc>Acc p.A279T COADREAD 19 50412397 50412397 + Missense_Mutation SNP G G T TCGA-AA-A01R-01A-21W-A096-10 TCGA-AA-A01R-11A-12W-A096-10 g.chr19:50412397G>T c.668C>A c.(667-669)gCg>gAg p.A223E COADREAD 19 50412684 50412685 + Frame_Shift_Ins INS - - A TCGA-AG-A00Y-01A-02W-A005-10 TCGA-AG-A00Y-10A-01W-A005-10 g.chr19:50412684_50412685insA c.380_381insT c.(379-381)agcfs p.S127fs DLBC 19 50412090 50412090 + Silent SNP G G A TCGA-GS-A9TW-01A-11D-A382-10 TCGA-GS-A9TW-10A-01D-A385-10 g.chr19:50412090G>A c.975C>T c.(973-975)agC>agT p.S325S DLBC 19 50412396 50412396 + Silent SNP C C T TCGA-GR-7351-01A-11D-2210-10 TCGA-GR-7351-10A-01D-2210-10 g.chr19:50412396C>T c.669G>A c.(667-669)gcG>gcA p.A223A ESCA 19 50411539 50411539 + Missense_Mutation SNP C C A TCGA-L5-A8NM-01A-11D-A37C-09 TCGA-L5-A8NM-11A-12D-A37F-09 g.chr19:50411539C>A c.1526G>T c.(1525-1527)cGg>cTg p.R509L ESCA 19 50412739 50412739 + Missense_Mutation SNP G G T TCGA-2H-A9GH-01A-11D-A37C-09 TCGA-2H-A9GH-11A-11D-A37F-09 g.chr19:50412739G>T c.326C>A c.(325-327)gCa>gAa p.A109E GBM 19 50411934 50411934 + Silent SNP G G A TCGA-02-2486-01A-01D-1494-08 TCGA-02-2486-10A-01D-1494-08 g.chr19:50411934G>A c.1131C>T c.(1129-1131)cgC>cgT p.R377R GBMLGG 19 50411934 50411934 + Silent SNP G G A TCGA-02-2486-01A-01D-1494-08 TCGA-02-2486-10A-01D-1494-08 g.chr19:50411934G>A c.1131C>T c.(1129-1131)cgC>cgT p.R377R HNSC 19 50412009 50412009 + Silent SNP G G A TCGA-CV-7568-01A-11D-2229-08 TCGA-CV-7568-10A-01D-2229-08 g.chr19:50412009G>A c.1056C>T c.(1054-1056)ctC>ctT p.L352L HNSC 19 50412135 50412135 + Silent SNP C C A TCGA-CR-7370-01A-11D-2129-08 TCGA-CR-7370-10A-01D-2129-08 g.chr19:50412135C>A c.930G>T c.(928-930)gtG>gtT p.V310V HNSC 19 50412137 50412137 + Missense_Mutation SNP C C T TCGA-BA-6872-01A-11D-1870-08 TCGA-BA-6872-10A-01D-1870-08 g.chr19:50412137C>T c.928G>A c.(928-930)Gtg>Atg p.V310M HNSC 19 50412511 50412511 + Missense_Mutation SNP G G T TCGA-CV-A45Z-01A-21D-A25D-08 TCGA-CV-A45Z-10A-01D-A25E-08 g.chr19:50412511G>T c.554C>A c.(553-555)cCt>cAt p.P185H HNSC 19 50412642 50412642 + Silent SNP C C T TCGA-CN-5363-01A-01D-1434-08 TCGA-CN-5363-10A-01D-1434-08 g.chr19:50412642C>T c.423G>A c.(421-423)gtG>gtA p.V141V HNSC 19 50412820 50412820 + Missense_Mutation SNP G G A TCGA-CR-6492-01A-12D-2078-08 TCGA-CR-6492-10A-01D-2078-08 g.chr19:50412820G>A c.245C>T c.(244-246)gCt>gTt p.A82V HNSC 19 50412910 50412910 + Missense_Mutation SNP G G C TCGA-CV-6936-01A-11D-1912-08 TCGA-CV-6936-10A-01D-1912-08 g.chr19:50412910G>C c.155C>G c.(154-156)aCa>aGa p.T52R KIPAN 19 50411616 50411633 + In_Frame_Del DEL GTCCATGTGCGCATTGAG GTCCATGTGCGCATTGAG - TCGA-P4-A5E7-01A-31D-A28G-10 TCGA-P4-A5E7-11A-11D-A28G-10 g.chr19:50411616_50411633delGTCCATGTGCGCATTGAG c.1432_1449delCTCAATGCGCACATGGAC c.(1432-1449)ctcaatgcgcacatggacdel p.LNAHMD478del KIPAN 19 50411672 50411673 + Frame_Shift_Ins INS - - G TCGA-A3-3367-01A-02D-1421-08 TCGA-A3-3367-11A-01D-1421-08 g.chr19:50411672_50411673insG c.1392_1393insC c.(1390-1395)cccgccfs p.A465fs KIPAN 19 50412996 50412996 + Silent SNP C C T TCGA-P4-A5EB-01A-11D-A28G-10 TCGA-P4-A5EB-11A-11D-A28G-10 g.chr19:50412996C>T c.69G>A c.(67-69)acG>acA p.T23T KIRC 19 50411672 50411673 + Frame_Shift_Ins INS - - G TCGA-A3-3367-01A-02D-1421-08 TCGA-A3-3367-11A-01D-1421-08 g.chr19:50411672_50411673insG c.1392_1393insC c.(1390-1395)cccgccfs p.A465fs KIRP 19 50411616 50411633 + In_Frame_Del DEL GTCCATGTGCGCATTGAG GTCCATGTGCGCATTGAG - TCGA-P4-A5E7-01A-31D-A28G-10 TCGA-P4-A5E7-11A-11D-A28G-10 g.chr19:50411616_50411633delGTCCATGTGCGCATTGAG c.1432_1449delCTCAATGCGCACATGGAC c.(1432-1449)ctcaatgcgcacatggacdel p.LNAHMD478del KIRP 19 50412996 50412996 + Silent SNP C C T TCGA-P4-A5EB-01A-11D-A28G-10 TCGA-P4-A5EB-11A-11D-A28G-10 g.chr19:50412996C>T c.69G>A c.(67-69)acG>acA p.T23T LIHC 19 50411919 50411919 + Silent SNP C C A TCGA-FV-A3R2-01A-11D-A22F-10 TCGA-FV-A3R2-11A-11D-A22F-10 g.chr19:50411919C>A c.1146G>T c.(1144-1146)gtG>gtT p.V382V LIHC 19 50412103 50412103 + Missense_Mutation SNP C C T TCGA-DD-A39Z-01A-11D-A20W-10 TCGA-DD-A39Z-11A-21D-A20W-10 g.chr19:50412103C>T c.962G>A c.(961-963)gGg>gAg p.G321E LIHC 19 50412454 50412454 + Missense_Mutation SNP T T C TCGA-CC-A5UD-01A-11D-A28X-10 TCGA-CC-A5UD-10A-01D-A28X-10 g.chr19:50412454T>C c.611A>G c.(610-612)cAg>cGg p.Q204R LUAD 19 50411625 50411625 + Silent SNP C C A TCGA-50-5933-01A-11D-1753-08 TCGA-50-5933-11A-01D-1753-08 g.chr19:50411625C>A c.1440G>T c.(1438-1440)gcG>gcT p.A480A LUAD 19 50412101 50412101 + Missense_Mutation SNP C C T TCGA-44-6778-01A-11D-1855-08 TCGA-44-6778-10A-01D-1855-08 g.chr19:50412101C>T c.964G>A c.(964-966)Gcg>Acg p.A322T LUAD 19 50412420 50412420 + Silent SNP G G T TCGA-05-4382-01A-01D-1931-08 TCGA-05-4382-10A-01D-1265-08 g.chr19:50412420G>T c.645C>A c.(643-645)acC>acA p.T215T LUAD 19 50412792 50412792 + Frame_Shift_Del DEL C C - TCGA-86-A4JF-01A-11D-A24P-08 TCGA-86-A4JF-10A-01D-A24P-08 g.chr19:50412792delC c.273delG c.(271-273)gggfs p.G91fs LUAD 19 50412810 50412811 + Frame_Shift_Ins INS - - C TCGA-17-Z033-01A-01W-0746-08 TCGA-17-Z033-11A-01W-0746-08 g.chr19:50412810_50412811insC c.254_255insG c.(253-255)ggafs p.G85fs LUAD 19 50413058 50413058 + Missense_Mutation SNP C C A TCGA-49-6744-01A-11D-1855-08 TCGA-49-6744-11A-01D-1855-08 g.chr19:50413058C>A c.7G>T c.(7-9)Ggg>Tgg p.G3W LUSC 19 50412425 50412425 + Missense_Mutation SNP T T C TCGA-56-5897-01A-11D-1632-08 TCGA-56-5897-10A-01D-1632-08 g.chr19:50412425T>C c.640A>G c.(640-642)Atc>Gtc p.I214V LUSC 19 50412728 50412728 + Missense_Mutation SNP C C G TCGA-46-6025-01A-11D-1817-08 TCGA-46-6025-10A-01D-1817-08 g.chr19:50412728C>G c.337G>C c.(337-339)Ggc>Cgc p.G113R LUSC 19 50413004 50413004 + Missense_Mutation SNP C C A TCGA-43-6771-01A-11D-1817-08 TCGA-43-6771-11A-01D-1817-08 g.chr19:50413004C>A c.61G>T c.(61-63)Gca>Tca p.A21S OV 19 50411693 50411693 + Missense_Mutation SNP G G C TCGA-29-1693-01A-01W-0633-09 TCGA-29-1693-10A-01W-0633-09 g.chr19:50411693G>C c.1372C>G c.(1372-1374)Ctg>Gtg p.L458V OV 19 50412217 50412217 + Missense_Mutation SNP C C G TCGA-29-1690-01A-01W-0633-09 TCGA-29-1690-10A-01W-0633-09 g.chr19:50412217C>G c.848G>C c.(847-849)aGc>aCc p.S283T OV 19 50412217 50412217 + Missense_Mutation SNP C C G TCGA-57-1586-01A-02W-0633-09 TCGA-57-1586-11A-01W-0633-09 g.chr19:50412217C>G c.848G>C c.(847-849)aGc>aCc p.S283T PAAD 19 50412073 50412073 + Missense_Mutation SNP G G A TCGA-FB-AAQ2-01A-31D-A40W-08 TCGA-FB-AAQ2-11A-11D-A40W-08 g.chr19:50412073G>A c.992C>T c.(991-993)gCg>gTg p.A331V PAAD 19 50412206 50412208 + In_Frame_Del DEL TGC TGC - TCGA-IB-A5SQ-01A-11D-A32N-08 TCGA-IB-A5SQ-10A-01D-A32N-08 g.chr19:50412206_50412208delTGC c.857_859delGCA c.(856-861)agcacc>acc p.S286del PAAD 19 50412726 50412726 + Silent SNP G G T TCGA-IB-7651-01A-11D-2154-08 TCGA-IB-7651-10A-01D-2154-08 g.chr19:50412726G>T c.339C>A c.(337-339)ggC>ggA p.G113G PAAD 19 50412865 50412865 + Missense_Mutation SNP G G A TCGA-IB-A5SS-01A-11D-A32N-08 TCGA-IB-A5SS-10A-01D-A32N-08 g.chr19:50412865G>A c.200C>T c.(199-201)cCg>cTg p.P67L PRAD 19 50412681 50412681 + Silent SNP G G A TCGA-XK-AAIW-01A-11D-A41K-08 TCGA-XK-AAIW-10A-01D-A41N-08 g.chr19:50412681G>A c.384C>T c.(382-384)acC>acT p.T128T READ 19 50411700 50411700 + Silent SNP G G A TCGA-AG-A002-01A-01W-A00K-09 TCGA-AG-A002-10A-01W-A00K-09 g.chr19:50411700G>A c.1365C>T c.(1363-1365)atC>atT p.I455I READ 19 50412684 50412685 + Frame_Shift_Ins INS - - A TCGA-AG-A00Y-01A-02W-A005-10 TCGA-AG-A00Y-10A-01W-A005-10 g.chr19:50412684_50412685insA c.380_381insT c.(379-381)agcfs p.S127fs SKCM 19 50411634 50411634 + Silent SNP G G A TCGA-EE-A2MD-06A-11D-A197-08 TCGA-EE-A2MD-10A-01D-A199-08 g.chr19:50411634G>A c.1431C>T c.(1429-1431)atC>atT p.I477I SKCM 19 50411714 50411714 + Missense_Mutation SNP G G A TCGA-EE-A3AG-06A-31D-A196-08 TCGA-EE-A3AG-10A-01D-A198-08 g.chr19:50411714G>A c.1351C>T c.(1351-1353)Ctc>Ttc p.L451F SKCM 19 50411752 50411752 + Missense_Mutation SNP T T C TCGA-D9-A6EC-06A-11D-A30X-08 TCGA-D9-A6EC-10A-01D-A30X-08 g.chr19:50411752T>C c.1313A>G c.(1312-1314)gAg>gGg p.E438G SKCM 19 50411768 50411768 + Missense_Mutation SNP T T G TCGA-D9-A6EC-06A-11D-A30X-08 TCGA-D9-A6EC-10A-01D-A30X-08 g.chr19:50411768T>G c.1297A>C c.(1297-1299)Acc>Ccc p.T433P SKCM 19 50411880 50411880 + Silent SNP G G A TCGA-EE-A3AE-06A-11D-A196-08 TCGA-EE-A3AE-10A-01D-A198-08 g.chr19:50411880G>A c.1185C>T c.(1183-1185)ttC>ttT p.F395F SKCM 19 50412606 50412606 + Silent SNP G G A TCGA-D3-A51G-06A-11D-A25O-08 TCGA-D3-A51G-10A-01D-A25O-08 g.chr19:50412606G>A c.459C>T c.(457-459)acC>acT p.T153T SKCM 19 50412655 50412655 + Missense_Mutation SNP G G A TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 g.chr19:50412655G>A c.410C>T c.(409-411)cCc>cTc p.P137L SKCM 19 50412799 50412799 + Missense_Mutation SNP G G A TCGA-GN-A266-06A-11D-A197-08 TCGA-GN-A266-10A-01D-A199-08 g.chr19:50412799G>A c.266C>T c.(265-267)tCt>tTt p.S89F

Mutation - ICGC Project Code Chromosome Chromosome Start Chromosome End Mutation Type Mutated from Allele Mutated to Allele Consequence Type AA Mutation CDS Mutation BLCA-CN 19 50411509 50411509 single base substitution A T downstream_gene_variant BLCA-CN 19 50411509 50411509 single base substitution A T missense_variant I443N 1328T>A BLCA-CN 19 50411509 50411509 single base substitution A T missense_variant I519N 1556T>A BLCA-CN 19 50411525 50411525 single base substitution C T downstream_gene_variant BLCA-CN 19 50411525 50411525 single base substitution C T missense_variant E438K 1312G>A BLCA-CN 19 50411525 50411525 single base substitution C T missense_variant E514K 1540G>A BLCA-CN 19 50412417 50412417 single base substitution G A downstream_gene_variant BLCA-CN 19 50412417 50412417 single base substitution G A synonymous_variant S216S 648C>T BLCA-US 19 50412045 50412045 single base substitution C A downstream_gene_variant BLCA-US 19 50412045 50412045 single base substitution C A intron_variant BLCA-US 19 50412045 50412045 single base substitution C A missense_variant W340C 1020G>T BLCA-US 19 50413062 50413062 single base substitution C T downstream_gene_variant BLCA-US 19 50413062 50413062 single base substitution C T exon_variant BLCA-US 19 50413062 50413062 single base substitution C T intron_variant BLCA-US 19 50413062 50413062 single base substitution C T start_lost M1I 3G>A BRCA-EU 19 50405200 50405200 single base substitution C G downstream_gene_variant BRCA-EU 19 50406286 50406286 single base substitution C A downstream_gene_variant BRCA-EU 19 50406604 50406604 single base substitution C T downstream_gene_variant BRCA-EU 19 50406641 50406641 single base substitution C T downstream_gene_variant BRCA-EU 19 50408719 50408719 single base substitution C G downstream_gene_variant BRCA-EU 19 50409117 50409117 single base substitution C G downstream_gene_variant BRCA-EU 19 50410194 50410194 single base substitution G C 3_prime_UTR_variant BRCA-EU 19 50410194 50410194 single base substitution G C downstream_gene_variant BRCA-EU 19 50410607 50410607 single base substitution C T 3_prime_UTR_variant BRCA-EU 19 50410607 50410607 single base substitution C T downstream_gene_variant BRCA-EU 19 50411700 50411700 single base substitution G A downstream_gene_variant BRCA-EU 19 50411700 50411700 single base substitution G A synonymous_variant I379I 1137C>T BRCA-EU 19 50411700 50411700 single base substitution G A synonymous_variant I455I 1365C>T BRCA-EU 19 50413349 50413349 single base substitution C A downstream_gene_variant BRCA-EU 19 50413349 50413349 single base substitution C A intron_variant BRCA-EU 19 50413643 50413643 single base substitution G T downstream_gene_variant BRCA-EU 19 50413643 50413643 single base substitution G T intron_variant BRCA-EU 19 50414277 50414277 single base substitution C G downstream_gene_variant BRCA-EU 19 50414277 50414277 single base substitution C G intron_variant BRCA-EU 19 50415042 50415042 single base substitution G A downstream_gene_variant BRCA-EU 19 50415042 50415042 single base substitution G A intron_variant BRCA-EU 19 50418311 50418311 single base substitution T C intron_variant BRCA-EU 19 50418311 50418311 single base substitution T C upstream_gene_variant BRCA-EU 19 50419857 50419857 single base substitution A G intron_variant BRCA-EU 19 50419857 50419857 single base substitution A G upstream_gene_variant BRCA-EU 19 50420402 50420402 single base substitution G C intron_variant BRCA-EU 19 50420402 50420402 single base substitution G C upstream_gene_variant BRCA-EU 19 50423190 50423190 single base substitution T A intron_variant BRCA-EU 19 50423190 50423190 single base substitution T A upstream_gene_variant BRCA-EU 19 50423295 50423295 single base substitution C A intron_variant BRCA-EU 19 50423295 50423295 single base substitution C A upstream_gene_variant BRCA-EU 19 50423666 50423666 single base substitution T C intron_variant BRCA-EU 19 50423666 50423666 single base substitution T C upstream_gene_variant BRCA-EU 19 50423871 50423871 single base substitution C T intron_variant BRCA-EU 19 50423871 50423871 single base substitution C T upstream_gene_variant BRCA-EU 19 50426690 50426690 single base substitution G C intron_variant BRCA-EU 19 50426863 50426863 single base substitution C A intron_variant BRCA-EU 19 50427494 50427494 single base substitution C T intron_variant BRCA-EU 19 50427641 50427641 single base substitution C G intron_variant BRCA-EU 19 50428518 50428518 single base substitution C T intron_variant BRCA-EU 19 50428629 50428629 single base substitution G C intron_variant BRCA-EU 19 50428722 50428722 deletion of <=200bp T - intron_variant BRCA-EU 19 50429660 50429660 single base substitution G A intron_variant BRCA-EU 19 50431616 50431616 single base substitution T C 5_prime_UTR_variant BRCA-EU 19 50431616 50431616 single base substitution T C intron_variant BRCA-EU 19 50432312 50432312 single base substitution G A 5_prime_UTR_variant BRCA-EU 19 50432312 50432312 single base substitution G A intron_variant BRCA-EU 19 50432381 50432381 single base substitution G A 5_prime_UTR_premature_start_codon_gain_variant BRCA-EU 19 50432381 50432381 single base substitution G A intron_variant BRCA-EU 19 50432546 50432546 single base substitution C G 5_prime_UTR_variant BRCA-EU 19 50432546 50432546 single base substitution C G intron_variant BRCA-EU 19 50433088 50433088 single base substitution C T upstream_gene_variant BRCA-EU 19 50436256 50436256 single base substitution A T upstream_gene_variant BRCA-EU 19 50437799 50437799 single base substitution A G upstream_gene_variant BRCA-FR 19 50411362 50411362 single base substitution T A 3_prime_UTR_variant BRCA-FR 19 50411362 50411362 single base substitution T A downstream_gene_variant BRCA-FR 19 50428629 50428629 single base substitution G C intron_variant BRCA-FR 19 50431616 50431616 single base substitution T C 5_prime_UTR_variant BRCA-FR 19 50431616 50431616 single base substitution T C intron_variant BRCA-FR 19 50432498 50432498 single base substitution A G 5_prime_UTR_variant BRCA-FR 19 50432498 50432498 single base substitution A G intron_variant BRCA-FR 19 50433088 50433088 single base substitution C T upstream_gene_variant BRCA-UK 19 50405726 50405726 single base substitution C T downstream_gene_variant BRCA-US 19 50411501 50411501 single base substitution C G downstream_gene_variant BRCA-US 19 50411501 50411501 single base substitution C G missense_variant D446H 1336G>C BRCA-US 19 50411501 50411501 single base substitution C G missense_variant D522H 1564G>C BRCA-US 19 50411867 50411867 single base substitution G A downstream_gene_variant BRCA-US 19 50411867 50411867 single base substitution G A stop_gained Q324* 970C>T BRCA-US 19 50411867 50411867 single base substitution G A stop_gained Q400* 1198C>T BRCA-US 19 50412334 50412334 single base substitution G A downstream_gene_variant BRCA-US 19 50412334 50412334 single base substitution G A missense_variant T244I 731C>T BRCA-US 19 50412785 50412785 single base substitution C A downstream_gene_variant BRCA-US 19 50412785 50412785 single base substitution C A intron_variant BRCA-US 19 50412785 50412785 single base substitution C A missense_variant A94S 280G>T BRCA-US 19 50412810 50412810 insertion of <=200bp - C downstream_gene_variant BRCA-US 19 50412810 50412810 insertion of <=200bp - C frameshift_variant G85G? BRCA-US 19 50412810 50412810 insertion of <=200bp - C intron_variant BRCA-US 19 50436280 50436280 single base substitution G C upstream_gene_variant BRCA-US 19 50436338 50436338 single base substitution C T upstream_gene_variant BTCA-JP 19 50412309 50412309 single base substitution C T downstream_gene_variant BTCA-JP 19 50412309 50412309 single base substitution C T synonymous_variant G252G 756G>A BTCA-JP 19 50412541 50412541 single base substitution G A downstream_gene_variant BTCA-JP 19 50412541 50412541 single base substitution G A intron_variant BTCA-JP 19 50412541 50412541 single base substitution G A missense_variant S175L 524C>T BTCA-JP 19 50435654 50435654 single base substitution G C upstream_gene_variant BTCA-JP 19 50435936 50435936 single base substitution C A upstream_gene_variant BTCA-JP 19 50436269 50436269 single base substitution G A upstream_gene_variant BTCA-JP 19 50436299 50436299 single base substitution C A upstream_gene_variant CESC-US 19 50411685 50411685 single base substitution C T downstream_gene_variant CESC-US 19 50411685 50411685 single base substitution C T synonymous_variant T384T 1152G>A CESC-US 19 50411685 50411685 single base substitution C T synonymous_variant T460T 1380G>A CESC-US 19 50411753 50411753 single base substitution C T downstream_gene_variant CESC-US 19 50411753 50411753 single base substitution C T missense_variant E362K 1084G>A CESC-US 19 50411753 50411753 single base substitution C T missense_variant E438K 1312G>A CESC-US 19 50412023 50412023 single base substitution C T downstream_gene_variant CESC-US 19 50412023 50412023 single base substitution C T intron_variant CESC-US 19 50412023 50412023 single base substitution C T missense_variant E348K 1042G>A CESC-US 19 50412866 50412866 single base substitution G C downstream_gene_variant CESC-US 19 50412866 50412866 single base substitution G C intron_variant CESC-US 19 50412866 50412866 single base substitution G C missense_variant P67A 199C>G CESC-US 19 50412967 50412967 single base substitution G T downstream_gene_variant CESC-US 19 50412967 50412967 single base substitution G T exon_variant CESC-US 19 50412967 50412967 single base substitution G T intron_variant CESC-US 19 50412967 50412967 single base substitution G T missense_variant S33Y 98C>A CESC-US 19 50413062 50413062 single base substitution C G downstream_gene_variant CESC-US 19 50413062 50413062 single base substitution C G exon_variant CESC-US 19 50413062 50413062 single base substitution C G intron_variant CESC-US 19 50413062 50413062 single base substitution C G start_lost M1I 3G>C CESC-US 19 50436077 50436077 single base substitution C G upstream_gene_variant CLLE-ES 19 50406321 50406321 single base substitution G A downstream_gene_variant CLLE-ES 19 50420819 50420819 single base substitution A C intron_variant CLLE-ES 19 50420819 50420819 single base substitution A C upstream_gene_variant CLLE-ES 19 50433914 50433914 single base substitution G A upstream_gene_variant COAD-US 19 50412028 50412028 single base substitution T C downstream_gene_variant COAD-US 19 50412028 50412028 single base substitution T C intron_variant COAD-US 19 50412028 50412028 single base substitution T C missense_variant D346G 1037A>G COAD-US 19 50412217 50412217 single base substitution C G downstream_gene_variant COAD-US 19 50412217 50412217 single base substitution C G intron_variant COAD-US 19 50412217 50412217 single base substitution C G missense_variant S283T 848G>C COAD-US 19 50412225 50412230 deletion of <=200bp GGTGGC - downstream_gene_variant COAD-US 19 50412225 50412230 deletion of <=200bp GGTGGC - inframe_deletion AT279 COAD-US 19 50412225 50412230 deletion of <=200bp GGTGGC - splice_donor_variant COAD-US 19 50412417 50412417 single base substitution G A downstream_gene_variant COAD-US 19 50412417 50412417 single base substitution G A synonymous_variant S216S 648C>T COAD-US 19 50434180 50434180 single base substitution G A upstream_gene_variant COAD-US 19 50434211 50434211 deletion of <=200bp C - upstream_gene_variant COAD-US 19 50435862 50435862 single base substitution C T upstream_gene_variant COAD-US 19 50436211 50436211 single base substitution G T upstream_gene_variant COAD-US 19 50436244 50436244 single base substitution C T upstream_gene_variant COCA-CN 19 50411521 50411521 single base substitution C T downstream_gene_variant COCA-CN 19 50411521 50411521 single base substitution C T missense_variant R439H 1316G>A COCA-CN 19 50411521 50411521 single base substitution C T missense_variant R515H 1544G>A COCA-CN 19 50411809 50411809 single base substitution C T downstream_gene_variant COCA-CN 19 50411809 50411809 single base substitution C T missense_variant G343E 1028G>A COCA-CN 19 50411809 50411809 single base substitution C T missense_variant G419E 1256G>A COCA-CN 19 50412030 50412030 single base substitution C A downstream_gene_variant COCA-CN 19 50412030 50412030 single base substitution C A intron_variant COCA-CN 19 50412030 50412030 single base substitution C A missense_variant E345D 1035G>T COCA-CN 19 50436160 50436160 single base substitution G A upstream_gene_variant EOPC-DE 19 50423189 50423189 single base substitution A T intron_variant EOPC-DE 19 50423189 50423189 single base substitution A T upstream_gene_variant ESAD-UK 19 50405668 50405668 single base substitution G A downstream_gene_variant ESAD-UK 19 50406645 50406645 single base substitution T C downstream_gene_variant ESAD-UK 19 50407446 50407446 single base substitution T C downstream_gene_variant ESAD-UK 19 50407813 50407813 single base substitution A T downstream_gene_variant ESAD-UK 19 50414201 50414201 single base substitution T A downstream_gene_variant ESAD-UK 19 50414201 50414201 single base substitution T A intron_variant ESAD-UK 19 50414352 50414352 single base substitution G A downstream_gene_variant ESAD-UK 19 50414352 50414352 single base substitution G A exon_variant ESAD-UK 19 50414352 50414352 single base substitution G A intron_variant ESAD-UK 19 50414861 50414861 single base substitution G A downstream_gene_variant ESAD-UK 19 50414861 50414861 single base substitution G A intron_variant ESAD-UK 19 50422252 50422252 single base substitution A T intron_variant ESAD-UK 19 50422252 50422252 single base substitution A T upstream_gene_variant ESAD-UK 19 50422387 50422387 single base substitution G A intron_variant ESAD-UK 19 50422387 50422387 single base substitution G A upstream_gene_variant ESAD-UK 19 50422898 50422898 single base substitution T C intron_variant ESAD-UK 19 50422898 50422898 single base substitution T C upstream_gene_variant ESAD-UK 19 50423189 50423189 single base substitution A T intron_variant ESAD-UK 19 50423189 50423189 single base substitution A T upstream_gene_variant ESAD-UK 19 50426109 50426109 single base substitution C G intron_variant ESAD-UK 19 50427113 50427113 single base substitution C T intron_variant ESAD-UK 19 50427222 50427222 single base substitution C T intron_variant ESAD-UK 19 50431179 50431179 single base substitution C T 5_prime_UTR_variant ESAD-UK 19 50431179 50431179 single base substitution C T intron_variant ESAD-UK 19 50436996 50436996 single base substitution C T upstream_gene_variant ESAD-UK 19 50437135 50437135 single base substitution G A upstream_gene_variant ESAD-UK 19 50437339 50437339 single base substitution A T upstream_gene_variant ESCA-CN 19 50412081 50412081 single base substitution C A downstream_gene_variant ESCA-CN 19 50412081 50412081 single base substitution C A intron_variant ESCA-CN 19 50412081 50412081 single base substitution C A missense_variant M328I 984G>T ESCA-CN 19 50412238 50412238 single base substitution G T downstream_gene_variant ESCA-CN 19 50412238 50412238 single base substitution G T missense_variant T276N 827C>A ESCA-CN 19 50435771 50435771 single base substitution C A upstream_gene_variant ESCA-CN 19 50435934 50435934 single base substitution T C upstream_gene_variant ESCA-CN 19 50435939 50435939 single base substitution T C upstream_gene_variant ESCA-CN 19 50435955 50435955 single base substitution A C upstream_gene_variant ESCA-CN 19 50435998 50435998 single base substitution C T upstream_gene_variant ESCA-CN 19 50436236 50436236 single base substitution C T upstream_gene_variant ESCA-CN 19 50436980 50436980 single base substitution G A upstream_gene_variant GBM-US 19 50411934 50411934 single base substitution G A downstream_gene_variant GBM-US 19 50411934 50411934 single base substitution G A synonymous_variant R301R 903C>T GBM-US 19 50411934 50411934 single base substitution G A synonymous_variant R377R 1131C>T KIRC-US 19 50411672 50411672 insertion of <=200bp - G downstream_gene_variant KIRC-US 19 50411672 50411672 insertion of <=200bp - G frameshift_variant A389A? KIRC-US 19 50411672 50411672 insertion of <=200bp - G frameshift_variant A465A? KIRC-US 19 50435817 50435817 single base substitution A T upstream_gene_variant KIRP-US 19 50411616 50411633 deletion of <=200bp GTCCATGTGCGCATTGAG - downstream_gene_variant KIRP-US 19 50411616 50411633 deletion of <=200bp GTCCATGTGCGCATTGAG - inframe_deletion LNAHMD402 KIRP-US 19 50411616 50411633 deletion of <=200bp GTCCATGTGCGCATTGAG - inframe_deletion LNAHMD478 KIRP-US 19 50412018 50412018 single base substitution C T downstream_gene_variant KIRP-US 19 50412018 50412018 single base substitution C T intron_variant KIRP-US 19 50412018 50412018 single base substitution C T synonymous_variant R349R 1047G>A KIRP-US 19 50412996 50412996 single base substitution C T downstream_gene_variant KIRP-US 19 50412996 50412996 single base substitution C T exon_variant KIRP-US 19 50412996 50412996 single base substitution C T intron_variant KIRP-US 19 50412996 50412996 single base substitution C T synonymous_variant T23T 69G>A LAML-KR 19 50429445 50429445 single base substitution A G intron_variant LAML-KR 19 50429453 50429453 single base substitution G A intron_variant LICA-FR 19 50412812 50412812 single base substitution C T downstream_gene_variant LICA-FR 19 50412812 50412812 single base substitution C T intron_variant LICA-FR 19 50412812 50412812 single base substitution C T missense_variant G85R 253G>A LICA-FR 19 50413908 50413908 single base substitution C T downstream_gene_variant LICA-FR 19 50413908 50413908 single base substitution C T intron_variant LIHC-US 19 50411919 50411919 single base substitution C A downstream_gene_variant LIHC-US 19 50411919 50411919 single base substitution C A synonymous_variant V306V 918G>T LIHC-US 19 50411919 50411919 single base substitution C A synonymous_variant V382V 1146G>T LIHC-US 19 50412103 50412103 single base substitution C T downstream_gene_variant LIHC-US 19 50412103 50412103 single base substitution C T intron_variant LIHC-US 19 50412103 50412103 single base substitution C T missense_variant G321E 962G>A LIHC-US 19 50436140 50436141 deletion of <=200bp AA - upstream_gene_variant LINC-JP 19 50435406 50435406 single base substitution T A upstream_gene_variant LINC-JP 19 50436068 50436068 single base substitution T C upstream_gene_variant LIRI-JP 19 50405904 50405904 single base substitution G A downstream_gene_variant LIRI-JP 19 50406322 50406322 single base substitution A C downstream_gene_variant LIRI-JP 19 50406999 50406999 single base substitution G T downstream_gene_variant LIRI-JP 19 50407515 50407515 deletion of <=200bp T - downstream_gene_variant LIRI-JP 19 50408512 50408512 single base substitution T C downstream_gene_variant LIRI-JP 19 50410724 50410724 insertion of <=200bp - GGTTAGCA 3_prime_UTR_variant LIRI-JP 19 50410724 50410724 insertion of <=200bp - GGTTAGCA downstream_gene_variant LIRI-JP 19 50414570 50414587 deletion of <=200bp GAGCCAAGGAAGGCAGAA - 5_prime_UTR_variant LIRI-JP 19 50414570 50414587 deletion of <=200bp GAGCCAAGGAAGGCAGAA - downstream_gene_variant LIRI-JP 19 50414570 50414587 deletion of <=200bp GAGCCAAGGAAGGCAGAA - exon_variant LIRI-JP 19 50414570 50414587 deletion of <=200bp GAGCCAAGGAAGGCAGAA - intron_variant LIRI-JP 19 50418547 50418547 single base substitution T G intron_variant LIRI-JP 19 50418547 50418547 single base substitution T G upstream_gene_variant LIRI-JP 19 50419882 50419882 single base substitution G A intron_variant LIRI-JP 19 50419882 50419882 single base substitution G A upstream_gene_variant LIRI-JP 19 50420972 50420972 single base substitution G A exon_variant LIRI-JP 19 50420972 50420972 single base substitution G A intron_variant LIRI-JP 19 50420972 50420972 single base substitution G A upstream_gene_variant LIRI-JP 19 50423107 50423116 deletion of <=200bp TTCTTCCTTT - intron_variant LIRI-JP 19 50423107 50423116 deletion of <=200bp TTCTTCCTTT - upstream_gene_variant LIRI-JP 19 50423462 50423462 single base substitution C T intron_variant LIRI-JP 19 50423462 50423462 single base substitution C T upstream_gene_variant LIRI-JP 19 50425255 50425255 single base substitution G A intron_variant LIRI-JP 19 50425255 50425255 single base substitution G A upstream_gene_variant LIRI-JP 19 50425485 50425485 single base substitution C T intron_variant LIRI-JP 19 50425485 50425485 single base substitution C T upstream_gene_variant LIRI-JP 19 50435252 50435256 deletion of <=200bp TTTTC - upstream_gene_variant LIRI-JP 19 50437906 50437906 single base substitution C G upstream_gene_variant LUSC-KR 19 50407624 50407624 single base substitution G T downstream_gene_variant LUSC-KR 19 50408645 50408645 single base substitution G A downstream_gene_variant LUSC-KR 19 50410416 50410416 single base substitution A C 3_prime_UTR_variant LUSC-KR 19 50410416 50410416 single base substitution A C downstream_gene_variant LUSC-KR 19 50415215 50415215 single base substitution C T downstream_gene_variant LUSC-KR 19 50415215 50415215 single base substitution C T intron_variant LUSC-KR 19 50417988 50417988 single base substitution T G intron_variant LUSC-KR 19 50417988 50417988 single base substitution T G upstream_gene_variant LUSC-KR 19 50419607 50419607 single base substitution T C intron_variant LUSC-KR 19 50419607 50419607 single base substitution T C upstream_gene_variant LUSC-KR 19 50422088 50422088 single base substitution T A intron_variant LUSC-KR 19 50422088 50422088 single base substitution T A upstream_gene_variant LUSC-KR 19 50427201 50427201 single base substitution C A intron_variant LUSC-KR 19 50429766 50429766 single base substitution G A intron_variant LUSC-KR 19 50433088 50433088 single base substitution C T upstream_gene_variant LUSC-US 19 50412425 50412425 single base substitution T C downstream_gene_variant LUSC-US 19 50412425 50412425 single base substitution T C missense_variant I214V 640A>G LUSC-US 19 50412728 50412728 single base substitution C G downstream_gene_variant LUSC-US 19 50412728 50412728 single base substitution C G intron_variant LUSC-US 19 50412728 50412728 single base substitution C G missense_variant G113R 337G>C LUSC-US 19 50413004 50413004 single base substitution C A downstream_gene_variant LUSC-US 19 50413004 50413004 single base substitution C A exon_variant LUSC-US 19 50413004 50413004 single base substitution C A intron_variant LUSC-US 19 50413004 50413004 single base substitution C A missense_variant A21S 61G>T MALY-DE 19 50407813 50407813 single base substitution A T downstream_gene_variant MALY-DE 19 50410657 50410657 single base substitution T G 3_prime_UTR_variant MALY-DE 19 50410657 50410657 single base substitution T G downstream_gene_variant MALY-DE 19 50411763 50411763 single base substitution G C downstream_gene_variant MALY-DE 19 50411763 50411763 single base substitution G C stop_gained Y358* 1074C>G MALY-DE 19 50411763 50411763 single base substitution G C stop_gained Y434* 1302C>G MALY-DE 19 50412189 50412189 single base substitution C A downstream_gene_variant MALY-DE 19 50412189 50412189 single base substitution C A intron_variant MALY-DE 19 50412189 50412189 single base substitution C A missense_variant L292F 876G>T MALY-DE 19 50412199 50412199 single base substitution C T downstream_gene_variant MALY-DE 19 50412199 50412199 single base substitution C T intron_variant MALY-DE 19 50412199 50412199 single base substitution C T missense_variant G289D 866G>A MALY-DE 19 50413222 50413222 single base substitution G C downstream_gene_variant MALY-DE 19 50413222 50413222 single base substitution G C intron_variant MALY-DE 19 50415294 50415294 single base substitution A C downstream_gene_variant MALY-DE 19 50415294 50415294 single base substitution A C intron_variant MALY-DE 19 50417130 50417130 single base substitution G A intron_variant MALY-DE 19 50417130 50417130 single base substitution G A upstream_gene_variant MALY-DE 19 50419504 50419504 single base substitution T C intron_variant MALY-DE 19 50419504 50419504 single base substitution T C upstream_gene_variant MALY-DE 19 50427018 50427018 single base substitution C A intron_variant MALY-DE 19 50429799 50429799 single base substitution C A intron_variant MALY-DE 19 50432289 50432289 single base substitution A T 5_prime_UTR_variant MALY-DE 19 50432289 50432289 single base substitution A T intron_variant MALY-DE 19 50432619 50432619 single base substitution G A 5_prime_UTR_premature_start_codon_gain_variant MALY-DE 19 50432619 50432619 single base substitution G A exon_variant MALY-DE 19 50432619 50432619 single base substitution G A intron_variant MALY-DE 19 50432785 50432785 single base substitution G A 5_prime_UTR_variant MALY-DE 19 50432785 50432785 single base substitution G A exon_variant MALY-DE 19 50432785 50432785 single base substitution G A upstream_gene_variant MALY-DE 19 50432955 50432955 single base substitution C T 5_prime_UTR_variant MALY-DE 19 50432955 50432955 single base substitution C T exon_variant MALY-DE 19 50432955 50432955 single base substitution C T upstream_gene_variant MALY-DE 19 50432961 50432961 single base substitution C G 5_prime_UTR_variant MALY-DE 19 50432961 50432961 single base substitution C G exon_variant MALY-DE 19 50432961 50432961 single base substitution C G upstream_gene_variant MALY-DE 19 50432986 50432986 single base substitution G C 5_prime_UTR_variant MALY-DE 19 50432986 50432986 single base substitution G C exon_variant MALY-DE 19 50432986 50432986 single base substitution G C upstream_gene_variant MALY-DE 19 50434643 50434643 single base substitution G C upstream_gene_variant MALY-DE 19 50435588 50435588 single base substitution G C upstream_gene_variant MELA-AU 19 50405223 50405223 single base substitution C T downstream_gene_variant MELA-AU 19 50405428 50405428 single base substitution C T downstream_gene_variant MELA-AU 19 50405477 50405477 single base substitution G A downstream_gene_variant MELA-AU 19 50405986 50405986 single base substitution C T downstream_gene_variant MELA-AU 19 50406087 50406087 single base substitution A T downstream_gene_variant MELA-AU 19 50406493 50406493 single base substitution G A downstream_gene_variant MELA-AU 19 50407378 50407378 single base substitution G A downstream_gene_variant MELA-AU 19 50407554 50407555 multiple base substitution (>=2bp and <=200bp) GG AA downstream_gene_variant MELA-AU 19 50408236 50408236 single base substitution G A downstream_gene_variant MELA-AU 19 50408851 50408851 single base substitution G A downstream_gene_variant MELA-AU 19 50408934 50408934 single base substitution A G downstream_gene_variant MELA-AU 19 50410216 50410216 single base substitution G A 3_prime_UTR_variant MELA-AU 19 50410216 50410216 single base substitution G A downstream_gene_variant MELA-AU 19 50410275 50410275 single base substitution C T 3_prime_UTR_variant MELA-AU 19 50410275 50410275 single base substitution C T downstream_gene_variant MELA-AU 19 50411511 50411512 multiple base substitution (>=2bp and <=200bp) CC TT downstream_gene_variant MELA-AU 19 50411511 50411512 multiple base substitution (>=2bp and <=200bp) CC TT missense_variant R442Q 1325GG>AA MELA-AU 19 50411511 50411512 multiple base substitution (>=2bp and <=200bp) CC TT missense_variant R518Q 1553GG>AA MELA-AU 19 50411634 50411634 single base substitution G A downstream_gene_variant MELA-AU 19 50411634 50411634 single base substitution G A synonymous_variant I401I 1203C>T MELA-AU 19 50411634 50411634 single base substitution G A synonymous_variant I477I 1431C>T MELA-AU 19 50412563 50412563 single base substitution G A downstream_gene_variant MELA-AU 19 50412563 50412563 single base substitution G A intron_variant MELA-AU 19 50412563 50412563 single base substitution G A missense_variant P168S 502C>T MELA-AU 19 50412781 50412781 single base substitution G A downstream_gene_variant MELA-AU 19 50412781 50412781 single base substitution G A intron_variant MELA-AU 19 50412781 50412781 single base substitution G A missense_variant S95L 284C>T MELA-AU 19 50413438 50413438 single base substitution G A downstream_gene_variant MELA-AU 19 50413438 50413438 single base substitution G A intron_variant MELA-AU 19 50413609 50413609 single base substitution G A downstream_gene_variant MELA-AU 19 50413609 50413609 single base substitution G A intron_variant MELA-AU 19 50413859 50413859 single base substitution C T downstream_gene_variant MELA-AU 19 50413859 50413859 single base substitution C T intron_variant MELA-AU 19 50414381 50414381 single base substitution A G 5_prime_UTR_premature_start_codon_gain_variant MELA-AU 19 50414381 50414381 single base substitution A G downstream_gene_variant MELA-AU 19 50414381 50414381 single base substitution A G exon_variant MELA-AU 19 50414381 50414381 single base substitution A G intron_variant MELA-AU 19 50414698 50414698 single base substitution G A downstream_gene_variant MELA-AU 19 50414698 50414698 single base substitution G A intron_variant MELA-AU 19 50415279 50415279 single base substitution G A downstream_gene_variant MELA-AU 19 50415279 50415279 single base substitution G A intron_variant MELA-AU 19 50415457 50415457 single base substitution C A downstream_gene_variant MELA-AU 19 50415457 50415457 single base substitution C A intron_variant MELA-AU 19 50416488 50416488 single base substitution G A intron_variant MELA-AU 19 50416488 50416488 single base substitution G A upstream_gene_variant MELA-AU 19 50416970 50416971 multiple base substitution (>=2bp and <=200bp) GT AA intron_variant MELA-AU 19 50416970 50416971 multiple base substitution (>=2bp and <=200bp) GT AA upstream_gene_variant MELA-AU 19 50417557 50417557 single base substitution G A intron_variant MELA-AU 19 50417557 50417557 single base substitution G A upstream_gene_variant MELA-AU 19 50417570 50417570 single base substitution G C intron_variant MELA-AU 19 50417570 50417570 single base substitution G C upstream_gene_variant MELA-AU 19 50417947 50417948 multiple base substitution (>=2bp and <=200bp) CC TA intron_variant MELA-AU 19 50417947 50417948 multiple base substitution (>=2bp and <=200bp) CC TA upstream_gene_variant MELA-AU 19 50418378 50418378 single base substitution G A intron_variant MELA-AU 19 50418378 50418378 single base substitution G A upstream_gene_variant MELA-AU 19 50418670 50418670 single base substitution G A intron_variant MELA-AU 19 50418670 50418670 single base substitution G A upstream_gene_variant MELA-AU 19 50418725 50418725 single base substitution G A intron_variant MELA-AU 19 50418725 50418725 single base substitution G A upstream_gene_variant MELA-AU 19 50418877 50418877 single base substitution G A intron_variant MELA-AU 19 50418877 50418877 single base substitution G A upstream_gene_variant MELA-AU 19 50419209 50419209 single base substitution C T intron_variant MELA-AU 19 50419209 50419209 single base substitution C T upstream_gene_variant MELA-AU 19 50419231 50419231 single base substitution G A intron_variant MELA-AU 19 50419231 50419231 single base substitution G A upstream_gene_variant MELA-AU 19 50419289 50419289 single base substitution G A intron_variant MELA-AU 19 50419289 50419289 single base substitution G A upstream_gene_variant MELA-AU 19 50419547 50419548 multiple base substitution (>=2bp and <=200bp) GG AA intron_variant MELA-AU 19 50419547 50419548 multiple base substitution (>=2bp and <=200bp) GG AA upstream_gene_variant MELA-AU 19 50419617 50419617 single base substitution T C intron_variant MELA-AU 19 50419617 50419617 single base substitution T C upstream_gene_variant MELA-AU 19 50419634 50419634 single base substitution G A intron_variant MELA-AU 19 50419634 50419634 single base substitution G A upstream_gene_variant MELA-AU 19 50420068 50420068 single base substitution G A intron_variant MELA-AU 19 50420068 50420068 single base substitution G A upstream_gene_variant MELA-AU 19 50420467 50420467 single base substitution G A intron_variant MELA-AU 19 50420467 50420467 single base substitution G A upstream_gene_variant MELA-AU 19 50420690 50420690 single base substitution G A intron_variant MELA-AU 19 50420690 50420690 single base substitution G A upstream_gene_variant MELA-AU 19 50420749 50420749 single base substitution G A intron_variant MELA-AU 19 50420749 50420749 single base substitution G A upstream_gene_variant MELA-AU 19 50420765 50420765 single base substitution A T intron_variant MELA-AU 19 50420765 50420765 single base substitution A T upstream_gene_variant MELA-AU 19 50420853 50420853 single base substitution G A intron_variant MELA-AU 19 50420853 50420853 single base substitution G A upstream_gene_variant MELA-AU 19 50421495 50421495 single base substitution G A intron_variant MELA-AU 19 50421495 50421495 single base substitution G A upstream_gene_variant MELA-AU 19 50421847 50421847 single base substitution A T 5_prime_UTR_premature_start_codon_gain_variant MELA-AU 19 50421847 50421847 single base substitution A T exon_variant MELA-AU 19 50421847 50421847 single base substitution A T intron_variant MELA-AU 19 50421847 50421847 single base substitution A T upstream_gene_variant MELA-AU 19 50421950 50421950 single base substitution G A intron_variant MELA-AU 19 50421950 50421950 single base substitution G A upstream_gene_variant MELA-AU 19 50422775 50422775 single base substitution C T intron_variant MELA-AU 19 50422775 50422775 single base substitution C T upstream_gene_variant MELA-AU 19 50422856 50422857 multiple base substitution (>=2bp and <=200bp) CC TT intron_variant MELA-AU 19 50422856 50422857 multiple base substitution (>=2bp and <=200bp) CC TT upstream_gene_variant MELA-AU 19 50423030 50423030 single base substitution G A intron_variant MELA-AU 19 50423030 50423030 single base substitution G A upstream_gene_variant MELA-AU 19 50423031 50423031 single base substitution G A intron_variant MELA-AU 19 50423031 50423031 single base substitution G A upstream_gene_variant MELA-AU 19 50424039 50424039 single base substitution G A intron_variant MELA-AU 19 50424039 50424039 single base substitution G A upstream_gene_variant MELA-AU 19 50424216 50424216 single base substitution G A intron_variant MELA-AU 19 50424216 50424216 single base substitution G A upstream_gene_variant MELA-AU 19 50424389 50424389 single base substitution G A intron_variant MELA-AU 19 50424389 50424389 single base substitution G A upstream_gene_variant MELA-AU 19 50424618 50424618 single base substitution C T intron_variant MELA-AU 19 50424618 50424618 single base substitution C T upstream_gene_variant MELA-AU 19 50424910 50424910 single base substitution A T intron_variant MELA-AU 19 50424910 50424910 single base substitution A T upstream_gene_variant MELA-AU 19 50425092 50425092 single base substitution A G intron_variant MELA-AU 19 50425092 50425092 single base substitution A G upstream_gene_variant MELA-AU 19 50425124 50425124 single base substitution G A intron_variant MELA-AU 19 50425124 50425124 single base substitution G A upstream_gene_variant MELA-AU 19 50425226 50425226 single base substitution G A intron_variant MELA-AU 19 50425226 50425226 single base substitution G A upstream_gene_variant MELA-AU 19 50425264 50425265 multiple base substitution (>=2bp and <=200bp) GG AA intron_variant MELA-AU 19 50425264 50425265 multiple base substitution (>=2bp and <=200bp) GG AA upstream_gene_variant MELA-AU 19 50425646 50425646 single base substitution G A intron_variant MELA-AU 19 50425646 50425646 single base substitution G A upstream_gene_variant MELA-AU 19 50425695 50425695 single base substitution C T intron_variant MELA-AU 19 50425695 50425695 single base substitution C T upstream_gene_variant MELA-AU 19 50426013 50426013 single base substitution G A intron_variant MELA-AU 19 50426575 50426575 single base substitution G C intron_variant MELA-AU 19 50427583 50427584 multiple base substitution (>=2bp and <=200bp) GG AA intron_variant MELA-AU 19 50427699 50427699 single base substitution G A intron_variant MELA-AU 19 50427747 50427747 single base substitution C A intron_variant MELA-AU 19 50427792 50427792 single base substitution C T intron_variant MELA-AU 19 50427842 50427842 single base substitution G A intron_variant MELA-AU 19 50428089 50428089 single base substitution G A intron_variant MELA-AU 19 50428311 50428311 single base substitution G A intron_variant MELA-AU 19 50428317 50428317 single base substitution G A intron_variant MELA-AU 19 50428665 50428665 single base substitution A C intron_variant MELA-AU 19 50429592 50429592 single base substitution G A intron_variant MELA-AU 19 50430478 50430478 single base substitution G A intron_variant MELA-AU 19 50430653 50430653 single base substitution A C intron_variant MELA-AU 19 50430798 50430798 single base substitution G A intron_variant MELA-AU 19 50431119 50431119 single base substitution G A 5_prime_UTR_variant MELA-AU 19 50431119 50431119 single base substitution G A intron_variant MELA-AU 19 50431323 50431324 multiple base substitution (>=2bp and <=200bp) CC TT 5_prime_UTR_variant MELA-AU 19 50431323 50431324 multiple base substitution (>=2bp and <=200bp) CC TT intron_variant MELA-AU 19 50431497 50431497 single base substitution G A 5_prime_UTR_premature_start_codon_gain_variant MELA-AU 19 50431497 50431497 single base substitution G A intron_variant MELA-AU 19 50431510 50431510 single base substitution C T 5_prime_UTR_variant MELA-AU 19 50431510 50431510 single base substitution C T intron_variant MELA-AU 19 50431904 50431904 single base substitution G A 5_prime_UTR_variant MELA-AU 19 50431904 50431904 single base substitution G A intron_variant MELA-AU 19 50431989 50431989 single base substitution C T 5_prime_UTR_variant MELA-AU 19 50431989 50431989 single base substitution C T intron_variant MELA-AU 19 50432122 50432122 single base substitution C T 5_prime_UTR_variant MELA-AU 19 50432122 50432122 single base substitution C T intron_variant MELA-AU 19 50432305 50432305 single base substitution G A 5_prime_UTR_variant MELA-AU 19 50432305 50432305 single base substitution G A intron_variant MELA-AU 19 50433348 50433348 single base substitution G A upstream_gene_variant MELA-AU 19 50433907 50433907 single base substitution G A upstream_gene_variant MELA-AU 19 50433926 50433926 single base substitution C T upstream_gene_variant MELA-AU 19 50434205 50434206 multiple base substitution (>=2bp and <=200bp) CC TT upstream_gene_variant MELA-AU 19 50434681 50434681 single base substitution G A upstream_gene_variant MELA-AU 19 50435172 50435172 single base substitution C T upstream_gene_variant MELA-AU 19 50435278 50435278 single base substitution C T upstream_gene_variant MELA-AU 19 50435502 50435502 single base substitution G A upstream_gene_variant MELA-AU 19 50435745 50435745 single base substitution C T upstream_gene_variant MELA-AU 19 50436036 50436036 single base substitution C T upstream_gene_variant MELA-AU 19 50436314 50436314 single base substitution T A upstream_gene_variant MELA-AU 19 50436465 50436465 single base substitution C T upstream_gene_variant MELA-AU 19 50436497 50436497 single base substitution C T upstream_gene_variant MELA-AU 19 50436798 50436798 single base substitution C T upstream_gene_variant MELA-AU 19 50437092 50437092 single base substitution C T upstream_gene_variant MELA-AU 19 50437277 50437277 single base substitution C T upstream_gene_variant MELA-AU 19 50437567 50437567 single base substitution C T upstream_gene_variant MELA-AU 19 50437761 50437761 single base substitution G A upstream_gene_variant MELA-AU 19 50437884 50437884 single base substitution C T upstream_gene_variant ORCA-IN 19 50428705 50428705 single base substitution C A intron_variant ORCA-IN 19 50435597 50435597 single base substitution G C upstream_gene_variant OV-AU 19 50408164 50408164 single base substitution T C downstream_gene_variant OV-AU 19 50418388 50418388 single base substitution A G intron_variant OV-AU 19 50418388 50418388 single base substitution A G upstream_gene_variant OV-AU 19 50420743 50420743 single base substitution C G intron_variant OV-AU 19 50420743 50420743 single base substitution C G upstream_gene_variant OV-AU 19 50427451 50427451 single base substitution C T intron_variant OV-AU 19 50428309 50428309 single base substitution G A intron_variant OV-AU 19 50437216 50437216 single base substitution A T upstream_gene_variant PACA-AU 19 50406841 50406841 single base substitution C T downstream_gene_variant PACA-AU 19 50408396 50408396 insertion of <=200bp - T downstream_gene_variant PACA-AU 19 50410647 50410647 single base substitution G C 3_prime_UTR_variant PACA-AU 19 50410647 50410647 single base substitution G C downstream_gene_variant PACA-AU 19 50412886 50412886 single base substitution A C downstream_gene_variant PACA-AU 19 50412886 50412886 single base substitution A C intron_variant PACA-AU 19 50412886 50412886 single base substitution A C missense_variant F60C 179T>G PACA-AU 19 50416765 50416790 deletion of <=200bp CGCCATGTCCTCCCCACAACCCGGGC - intron_variant PACA-AU 19 50416765 50416790 deletion of <=200bp CGCCATGTCCTCCCCACAACCCGGGC - upstream_gene_variant PACA-AU 19 50420390 50420390 single base substitution C T intron_variant PACA-AU 19 50420390 50420390 single base substitution C T upstream_gene_variant PACA-AU 19 50424357 50424357 single base substitution A G intron_variant PACA-AU 19 50424357 50424357 single base substitution A G upstream_gene_variant PACA-AU 19 50426269 50426269 single base substitution G A intron_variant PACA-AU 19 50426283 50426298 deletion of <=200bp TCCTGGGCTCTAGGAC - intron_variant PACA-AU 19 50426713 50426713 single base substitution C T intron_variant PACA-AU 19 50427793 50427793 single base substitution C T intron_variant PACA-AU 19 50433951 50433951 single base substitution C T upstream_gene_variant PACA-CA 19 50405352 50405352 single base substitution G A downstream_gene_variant PACA-CA 19 50405964 50405964 single base substitution G A downstream_gene_variant PACA-CA 19 50406807 50406807 single base substitution C T downstream_gene_variant PACA-CA 19 50407951 50407951 single base substitution G A downstream_gene_variant PACA-CA 19 50408135 50408135 single base substitution T C downstream_gene_variant PACA-CA 19 50411043 50411043 single base substitution T A 3_prime_UTR_variant PACA-CA 19 50411043 50411043 single base substitution T A downstream_gene_variant PACA-CA 19 50411776 50411776 single base substitution C T downstream_gene_variant PACA-CA 19 50411776 50411776 single base substitution C T missense_variant R354H 1061G>A PACA-CA 19 50411776 50411776 single base substitution C T missense_variant R430H 1289G>A PACA-CA 19 50413681 50413682 deletion of <=200bp AA - downstream_gene_variant PACA-CA 19 50413681 50413682 deletion of <=200bp AA - intron_variant PACA-CA 19 50417160 50417160 single base substitution G A intron_variant PACA-CA 19 50417160 50417160 single base substitution G A upstream_gene_variant PACA-CA 19 50424901 50424901 single base substitution C T intron_variant PACA-CA 19 50424901 50424901 single base substitution C T upstream_gene_variant PACA-CA 19 50433372 50433372 single base substitution G T upstream_gene_variant PACA-CA 19 50436780 50436780 single base substitution A G upstream_gene_variant PACA-CA 19 50437981 50437981 single base substitution A T upstream_gene_variant PAEN-AU 19 50432739 50432739 single base substitution T G 5_prime_UTR_variant PAEN-AU 19 50432739 50432739 single base substitution T G exon_variant PAEN-AU 19 50432739 50432739 single base substitution T G upstream_gene_variant PAEN-IT 19 50428624 50428624 single base substitution C T intron_variant PBCA-DE 19 50406370 50406370 insertion of <=200bp - A downstream_gene_variant PBCA-DE 19 50417984 50417997 deletion of <=200bp TTTTTTTTTTTTTT - intron_variant PBCA-DE 19 50417984 50417997 deletion of <=200bp TTTTTTTTTTTTTT - upstream_gene_variant PBCA-DE 19 50423049 50423049 single base substitution G A intron_variant PBCA-DE 19 50423049 50423049 single base substitution G A upstream_gene_variant PBCA-DE 19 50436579 50436579 single base substitution T C upstream_gene_variant PBCA-DE 19 50437177 50437177 single base substitution G A upstream_gene_variant PRAD-CA 19 50416474 50416474 single base substitution G A intron_variant PRAD-CA 19 50416474 50416474 single base substitution G A upstream_gene_variant PRAD-UK 19 50415283 50415283 single base substitution T C downstream_gene_variant PRAD-UK 19 50415283 50415283 single base substitution T C intron_variant PRAD-UK 19 50433195 50433195 single base substitution A C upstream_gene_variant RECA-EU 19 50407094 50407094 single base substitution T G downstream_gene_variant RECA-EU 19 50409714 50409714 single base substitution C G downstream_gene_variant RECA-EU 19 50414321 50414321 single base substitution G A downstream_gene_variant RECA-EU 19 50414321 50414321 single base substitution G A exon_variant RECA-EU 19 50414321 50414321 single base substitution G A intron_variant RECA-EU 19 50417190 50417190 single base substitution T C intron_variant RECA-EU 19 50417190 50417190 single base substitution T C upstream_gene_variant RECA-EU 19 50428390 50428390 single base substitution T G intron_variant SKCA-BR 19 50405906 50405906 single base substitution G A downstream_gene_variant SKCA-BR 19 50406231 50406231 single base substitution G A downstream_gene_variant SKCA-BR 19 50407876 50407876 single base substitution G A downstream_gene_variant SKCA-BR 19 50409168 50409168 single base substitution G A downstream_gene_variant SKCA-BR 19 50410913 50410913 single base substitution C T 3_prime_UTR_variant SKCA-BR 19 50410913 50410913 single base substitution C T downstream_gene_variant SKCA-BR 19 50410914 50410914 single base substitution C T 3_prime_UTR_variant SKCA-BR 19 50410914 50410914 single base substitution C T downstream_gene_variant SKCA-BR 19 50413918 50413918 single base substitution A G downstream_gene_variant SKCA-BR 19 50413918 50413918 single base substitution A G intron_variant SKCA-BR 19 50416226 50416226 single base substitution T G 5_prime_UTR_variant SKCA-BR 19 50416226 50416226 single base substitution T G exon_variant SKCA-BR 19 50416226 50416226 single base substitution T G intron_variant SKCA-BR 19 50416964 50416964 single base substitution G A intron_variant SKCA-BR 19 50416964 50416964 single base substitution G A upstream_gene_variant SKCA-BR 19 50422171 50422171 single base substitution T G intron_variant SKCA-BR 19 50422171 50422171 single base substitution T G upstream_gene_variant SKCA-BR 19 50424994 50424994 single base substitution T C intron_variant SKCA-BR 19 50424994 50424994 single base substitution T C upstream_gene_variant SKCA-BR 19 50425265 50425265 single base substitution G A intron_variant SKCA-BR 19 50425265 50425265 single base substitution G A upstream_gene_variant SKCA-BR 19 50426137 50426137 single base substitution G A intron_variant SKCA-BR 19 50429877 50429877 single base substitution A G intron_variant SKCA-BR 19 50437227 50437227 single base substitution G A upstream_gene_variant SKCA-BR 19 50437526 50437528 deletion of <=200bp GGA - upstream_gene_variant SKCM-US 19 50411602 50411602 single base substitution A T downstream_gene_variant SKCM-US 19 50411602 50411602 single base substitution A T missense_variant I412N 1235T>A SKCM-US 19 50411602 50411602 single base substitution A T missense_variant I488N 1463T>A SKCM-US 19 50411634 50411634 single base substitution G A downstream_gene_variant SKCM-US 19 50411634 50411634 single base substitution G A synonymous_variant I401I 1203C>T SKCM-US 19 50411634 50411634 single base substitution G A synonymous_variant I477I 1431C>T SKCM-US 19 50411714 50411714 single base substitution G A downstream_gene_variant SKCM-US 19 50411714 50411714 single base substitution G A missense_variant L375F 1123C>T SKCM-US 19 50411714 50411714 single base substitution G A missense_variant L451F 1351C>T SKCM-US 19 50411752 50411752 single base substitution T C downstream_gene_variant SKCM-US 19 50411752 50411752 single base substitution T C missense_variant E362G 1085A>G SKCM-US 19 50411752 50411752 single base substitution T C missense_variant E438G 1313A>G SKCM-US 19 50411768 50411768 single base substitution T G downstream_gene_variant SKCM-US 19 50411768 50411768 single base substitution T G missense_variant T357P 1069A>C SKCM-US 19 50411768 50411768 single base substitution T G missense_variant T433P 1297A>C SKCM-US 19 50411880 50411880 single base substitution G A downstream_gene_variant SKCM-US 19 50411880 50411880 single base substitution G A synonymous_variant F319F 957C>T SKCM-US 19 50411880 50411880 single base substitution G A synonymous_variant F395F 1185C>T SKCM-US 19 50412412 50412412 single base substitution C T downstream_gene_variant SKCM-US 19 50412412 50412412 single base substitution C T missense_variant G218E 653G>A SKCM-US 19 50412606 50412606 single base substitution G A downstream_gene_variant SKCM-US 19 50412606 50412606 single base substitution G A intron_variant SKCM-US 19 50412606 50412606 single base substitution G A synonymous_variant T153T 459C>T SKCM-US 19 50412655 50412655 single base substitution G A downstream_gene_variant SKCM-US 19 50412655 50412655 single base substitution G A intron_variant SKCM-US 19 50412655 50412655 single base substitution G A missense_variant P137L 410C>T SKCM-US 19 50412799 50412799 single base substitution G A downstream_gene_variant SKCM-US 19 50412799 50412799 single base substitution G A intron_variant SKCM-US 19 50412799 50412799 single base substitution G A missense_variant S89F 266C>T SKCM-US 19 50412893 50412893 single base substitution C A downstream_gene_variant SKCM-US 19 50412893 50412893 single base substitution C A intron_variant SKCM-US 19 50412893 50412893 single base substitution C A missense_variant G58C 172G>T SKCM-US 19 50434213 50434213 single base substitution C T upstream_gene_variant SKCM-US 19 50434266 50434266 deletion of <=200bp G - upstream_gene_variant SKCM-US 19 50435745 50435745 single base substitution C T upstream_gene_variant SKCM-US 19 50435781 50435781 single base substitution C T upstream_gene_variant SKCM-US 19 50435808 50435808 single base substitution C T upstream_gene_variant SKCM-US 19 50435931 50435931 single base substitution C T upstream_gene_variant SKCM-US 19 50435948 50435948 single base substitution C T upstream_gene_variant SKCM-US 19 50436081 50436081 single base substitution C T upstream_gene_variant SKCM-US 19 50436267 50436267 single base substitution C T upstream_gene_variant SKCM-US 19 50436307 50436307 single base substitution C T upstream_gene_variant STAD-US 19 50411536 50411536 single base substitution C T downstream_gene_variant STAD-US 19 50411536 50411536 single base substitution C T missense_variant R434H 1301G>A STAD-US 19 50411536 50411536 single base substitution C T missense_variant R510H 1529G>A STAD-US 19 50411685 50411685 single base substitution C T downstream_gene_variant STAD-US 19 50411685 50411685 single base substitution C T synonymous_variant T384T 1152G>A STAD-US 19 50411685 50411685 single base substitution C T synonymous_variant T460T 1380G>A STAD-US 19 50411805 50411806 deletion of <=200bp GG - downstream_gene_variant STAD-US 19 50411805 50411806 deletion of <=200bp GG - frameshift_variant T344 STAD-US 19 50411805 50411806 deletion of <=200bp GG - frameshift_variant T420 STAD-US 19 50411973 50411973 single base substitution C T downstream_gene_variant STAD-US 19 50411973 50411973 single base substitution C T synonymous_variant T288T 864G>A STAD-US 19 50411973 50411973 single base substitution C T synonymous_variant T364T 1092G>A STAD-US 19 50412020 50412020 single base substitution G A downstream_gene_variant STAD-US 19 50412020 50412020 single base substitution G A intron_variant STAD-US 19 50412020 50412020 single base substitution G A missense_variant R349W 1045C>T STAD-US 19 50412080 50412080 single base substitution T C downstream_gene_variant STAD-US 19 50412080 50412080 single base substitution T C intron_variant STAD-US 19 50412080 50412080 single base substitution T C missense_variant T329A 985A>G STAD-US 19 50412220 50412220 single base substitution G C downstream_gene_variant STAD-US 19 50412220 50412220 single base substitution G C intron_variant STAD-US 19 50412220 50412220 single base substitution G C missense_variant T282S 845C>G STAD-US 19 50412225 50412230 deletion of <=200bp GGTGGC - downstream_gene_variant STAD-US 19 50412225 50412230 deletion of <=200bp GGTGGC - inframe_deletion AT279 STAD-US 19 50412225 50412230 deletion of <=200bp GGTGGC - splice_donor_variant STAD-US 19 50412513 50412513 single base substitution T C downstream_gene_variant STAD-US 19 50412513 50412513 single base substitution T C exon_variant STAD-US 19 50412513 50412513 single base substitution T C synonymous_variant A184A 552A>G STAD-US 19 50412522 50412522 single base substitution C T downstream_gene_variant STAD-US 19 50412522 50412522 single base substitution C T exon_variant STAD-US 19 50412522 50412522 single base substitution C T synonymous_variant Q181Q 543G>A STAD-US 19 50434211 50434211 deletion of <=200bp C - upstream_gene_variant STAD-US 19 50435750 50435750 deletion of <=200bp C - upstream_gene_variant STAD-US 19 50436306 50436306 single base substitution T C upstream_gene_variant UCEC-US 19 50411513 50411513 single base substitution G A downstream_gene_variant UCEC-US 19 50411513 50411513 single base substitution G A missense_variant R442W 1324C>T UCEC-US 19 50411513 50411513 single base substitution G A missense_variant R518W 1552C>T UCEC-US 19 50411745 50411745 single base substitution G A downstream_gene_variant UCEC-US 19 50411745 50411745 single base substitution G A synonymous_variant I364I 1092C>T UCEC-US 19 50411745 50411745 single base substitution G A synonymous_variant I440I 1320C>T UCEC-US 19 50411807 50411807 single base substitution T A downstream_gene_variant UCEC-US 19 50411807 50411807 single base substitution T A missense_variant T344S 1030A>T UCEC-US 19 50411807 50411807 single base substitution T A missense_variant T420S 1258A>T UCEC-US 19 50412114 50412114 single base substitution G A downstream_gene_variant UCEC-US 19 50412114 50412114 single base substitution G A intron_variant UCEC-US 19 50412114 50412114 single base substitution G A synonymous_variant G317G 951C>T UCEC-US 19 50412225 50412230 deletion of <=200bp GGTGGC - downstream_gene_variant UCEC-US 19 50412225 50412230 deletion of <=200bp GGTGGC - inframe_deletion AT279 UCEC-US 19 50412225 50412230 deletion of <=200bp GGTGGC - splice_donor_variant UCEC-US 19 50412396 50412396 single base substitution C T downstream_gene_variant UCEC-US 19 50412396 50412396 single base substitution C T synonymous_variant A223A 669G>A UCEC-US 19 50412640 50412640 single base substitution A G downstream_gene_variant UCEC-US 19 50412640 50412640 single base substitution A G intron_variant UCEC-US 19 50412640 50412640 single base substitution A G missense_variant F142S 425T>C UCEC-US 19 50412682 50412682 single base substitution G A downstream_gene_variant UCEC-US 19 50412682 50412682 single base substitution G A intron_variant UCEC-US 19 50412682 50412682 single base substitution G A missense_variant T128I 383C>T UCEC-US 19 50434165 50434165 single base substitution G A upstream_gene_variant UCEC-US 19 50435679 50435679 single base substitution G A upstream_gene_variant UCEC-US 19 50435840 50435840 single base substitution G T upstream_gene_variant UCEC-US 19 50436128 50436128 single base substitution C T upstream_gene_variant UCEC-US 19 50436159 50436159 single base substitution C T upstream_gene_variant UCEC-US 19 50436243 50436243 single base substitution G A upstream_gene_variant UCEC-US 19 50436268 50436268 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 TCGA-BR-4280-01 COSM4080253 c.552A>G p.A184A Substitution - coding silent 19:49909256-49909256 - ESCC_BICR_010T COSM5435963 c.984G>T p.M328I Substitution - Missense 19:49908824-49908824 - B45 COSM254873 c.1556T>A p.I519N Substitution - Missense 19:49908252-49908252 - BCN18 COSM4172242 c.1289G>A p.R430H Substitution - Missense 19:49908519-49908519 - ESO-859 COSM1239659 c.835G>A p.A279T Substitution - Missense 19:49908973-49908973 - TCGA-BS-A0UJ-01 COSM999514 c.1258A>T p.T420S Substitution - Missense 19:49908550-49908550 - SNUH_G16_S1 COSM3681004 c.756G>T p.G252G Substitution - coding silent 19:49909052-49909052 - B82-Tumor COSM3757052 c.648C>T p.S216S Substitution - coding silent 19:49909160-49909160 - TCGA-A5-A0GB-01 COSM999521 c.835_840delGCCACC p.A279_T280delAT Deletion - In frame 19:49908968-49908973 - TCGA-D1-A17Q-01 COSM999516 c.951C>T p.G317G Substitution - coding silent 19:49908857-49908857 - 8031704 COSM1168882 c.179T>G p.F60C Substitution - Missense 19:49909629-49909629 - T3080 COSM4708790 c.688A>G p.T230A Substitution - Missense 19:49909120-49909120 - ESCC_3 COSM5622578 c.1220T>A p.L407Q Substitution - Missense 19:49908588-49908588 - P157 COSM1737660 c.1020G>A p.W340* Substitution - Nonsense 19:49908788-49908788 - TCGA-EE-A2MR-06 COSM3537036 c.410C>T p.P137L Substitution - Missense 19:49909398-49909398 - TCGA-EB-A3XD-01 COSM3537034 c.653G>A p.G218E Substitution - Missense 19:49909155-49909155 - LUAD-NYU1051S COSM368710 c.554C>A p.P185H Substitution - Missense 19:49909254-49909254 - TCGA-B5-A0JY-01 COSM999512 c.1320C>T p.I440I Substitution - coding silent 19:49908488-49908488 - TCGA-CG-4306-01 COSM4080252 c.845C>G p.T282S Substitution - Missense 19:49908963-49908963 - TCGA-D1-A167-01 COSM999523 c.669G>A p.A223A Substitution - coding silent 19:49909139-49909139 - TCGA-AY-6197-01 COSM1395372 c.1037A>G p.D346G Substitution - Missense 19:49908771-49908771 - TCGA-AG-A002-01 COSM262489 c.1365C>T p.I455I Substitution - coding silent 19:49908443-49908443 - B45-Tumor COSM254873 c.1556T>A p.I519N Substitution - Missense 19:49908252-49908252 - 4_RESISTANT COSM1724592 c.554_555insC p.A186fs*243 Insertion - Frameshift 19:49909253-49909254 - LC_S11 COSM1190116 c.398A>T p.Q133L Substitution - Missense 19:49909410-49909410 - TCGA-C5-A1MK-01 COSM4826804 c.3G>C p.M1I Substitution - Missense 19:49909805-49909805 - PD11341a COSM262489 c.1365C>T p.I455I Substitution - coding silent 19:49908443-49908443 - TCGA-C5-A1MK-01 COSM4826853 c.1312G>A p.E438K Substitution - Missense 19:49908496-49908496 - E7 COSM1666286 c.665T>C p.F222S Substitution - Missense 19:49909143-49909143 - TCGA-29-1693-01 COSM1325121 c.1372C>G p.L458V Substitution - Missense 19:49908436-49908436 - TCGA-29-1690-01 COSM1325120 c.848G>C p.S283T Substitution - Missense 19:49908960-49908960 - tumor_4163639 COSM1161290 c.866G>A p.G289D Substitution - Missense 19:49908942-49908942 - 1946219 COSM1578461 c.1444_1445ins10 p.Q486fs*40 Insertion - Frameshift 19:49908363-49908364 - TCGA-AN-A0AK-01 COSM3835413 c.1198C>T p.Q400* Substitution - Nonsense 19:49908610-49908610 - EV002-R7 COSM1162054 c.293A>G p.N98S Substitution - Missense 19:49909515-49909515 - TCGA-AM-5821-01 COSM1325120 c.848G>C p.S283T Substitution - Missense 19:49908960-49908960 - TCGA-AM-5821-01 COSM3757052 c.648C>T p.S216S Substitution - coding silent 19:49909160-49909160 - TCGA-46-6025-01 COSM713353 c.337G>C p.G113R Substitution - Missense 19:49909471-49909471 - LUAD-NYU315 COSM373615 c.902G>C p.G301A Substitution - Missense 19:49908906-49908906 - TCGA-D9-A6EC-06 COSM4405721 c.1313A>G p.E438G Substitution - Missense 19:49908495-49908495 - H650 COSM1194609 c.337G>A p.G113S Substitution - Missense 19:49909471-49909471 - TCGA-43-6771-01 COSM713352 c.61G>T p.A21S Substitution - Missense 19:49909747-49909747 - YUOMEGA COSM5390350 c.144C>T p.F48F Substitution - coding silent 19:49909664-49909664 - 1N57-VS-1T57 COSM2753768 c.507C>T p.S169S Substitution - coding silent 19:49909301-49909301 - T3503 COSM4080252 c.845C>G p.T282S Substitution - Missense 19:49908963-49908963 - B45 COSM254873 c.1556T>A p.I519N Substitution - Missense 19:49908252-49908252 - HL-60 COSM1684589 c.187_201del15 p.P67_T71delPATQT Deletion - In frame 19:49909607-49909621 - TCGA-CG-5733-01 COSM4080247 c.1529G>A p.R510H Substitution - Missense 19:49908279-49908279 - TCGA-CG-5728-01 COSM4080250 c.1045C>T p.R349W Substitution - Missense 19:49908763-49908763 - TCGA-EB-A4IS-01 COSM3537028 c.1463T>A p.I488N Substitution - Missense 19:49908345-49908345 - 40M COSM5585995 c.140C>T p.P47L Substitution - Missense 19:49909668-49909668 - EV002-R1 COSM1162054 c.293A>G p.N98S Substitution - Missense 19:49909515-49909515 - TCGA-D1-A17Q-01 COSM999525 c.425T>C p.F142S Substitution - Missense 19:49909383-49909383 - TCGA-DK-A2I4-01 COSM3797394 c.3G>A p.M1I Substitution - Missense 19:49909805-49909805 - TCGA-A2-A0YM-01 COSM440011 c.1564G>C p.D522H Substitution - Missense 19:49908244-49908244 - B10-Tumor COSM254872 c.1540G>A p.E514K Substitution - Missense 19:49908268-49908268 - PCSI_0274_Pa_P_526 COSM4172242 c.1289G>A p.R430H Substitution - Missense 19:49908519-49908519 - TCGA-ER-A196-01 COSM3537038 c.172G>T p.G58C Substitution - Missense 19:49909636-49909636 - TCGA-A1-A0SJ-01 COSM440012 c.280G>T p.A94S Substitution - Missense 19:49909528-49909528 - 1 COSM4172243 c.1285G>T p.E429* Substitution - Nonsense 19:49908523-49908523 - TCGA-D3-A51G-06 COSM3537035 c.459C>T p.T153T Substitution - coding silent 19:49909349-49909349 - EV002-R3 COSM1162054 c.293A>G p.N98S Substitution - Missense 19:49909515-49909515 - S00936 COSM313428 c.337G>T p.G113C Substitution - Missense 19:49909471-49909471 - T55 COSM191945 c.952G>A p.A318T Substitution - Missense 19:49908856-49908856 - H441 COSM1193523 c.1366G>A p.E456K Substitution - Missense 19:49908442-49908442 - SC_9047 COSM4080253 c.552A>G p.A184A Substitution - coding silent 19:49909256-49909256 - CSCC-38-T COSM4510360 c.834C>T p.T278T Substitution - coding silent 19:49908974-49908974 - TCGA-P4-A5EB-01 COSM3990176 c.69G>A p.T23T Substitution - coding silent 19:49909739-49909739 - TCGA-EE-A3AE-06 COSM3537031 c.1185C>T p.F395F Substitution - coding silent 19:49908623-49908623 - TCGA-BR-8368-01 COSM4080248 c.1380G>A p.T460T Substitution - coding silent 19:49908428-49908428 - ESCC_BICR_052T COSM5434690 c.827C>A p.T276N Substitution - Missense 19:49908981-49908981 - TCGA-BR-8361-01 COSM4080249 c.1092G>A p.T364T Substitution - coding silent 19:49908716-49908716 - I2L-P7-Tumor-Organoid COSM5365491 c.107C>G p.T36S Substitution - Missense 19:49909701-49909701 - sysucc-880T COSM5462881 c.1256G>A p.G419E Substitution - Missense 19:49908552-49908552 - sysucc-1397T COSM5474214 c.1035G>T p.E345D Substitution - Missense 19:49908773-49908773 - 002 COSM1162054 c.293A>G p.N98S Substitution - Missense 19:49909515-49909515 - TCGA-FU-A3HZ-01 COSM4840313 c.98C>A p.S33Y Substitution - Missense 19:49909710-49909710 - TCGA-EE-A2MD-06 COSM3537029 c.1431C>T p.I477I Substitution - coding silent 19:49908377-49908377 - TCGA-57-1586-01 COSM1325120 c.848G>C p.S283T Substitution - Missense 19:49908960-49908960 - TCGA-GN-A266-06 COSM3537037 c.266C>T p.S89F Substitution - Missense 19:49909542-49909542 - SN12C COSM475059 c.1255G>T p.G419W Substitution - Missense 19:49908553-49908553 - B10 COSM254872 c.1540G>A p.E514K Substitution - Missense 19:49908268-49908268 - SC_9047 COSM5569494 c.679A>G p.T227A Substitution - Missense 19:49909129-49909129 - Sample_1 COSM5022044 c.1393G>C p.A465P Substitution - Missense 19:49908415-49908415 - EV002-R9 COSM1162054 c.293A>G p.N98S Substitution - Missense 19:49909515-49909515 - TCGA-EE-A3AG-06 COSM3537030 c.1351C>T p.L451F Substitution - Missense 19:49908457-49908457 - T2417 COSM2753768 c.507C>T p.S169S Substitution - coding silent 19:49909301-49909301 - 35M COSM5581916 c.1083G>A p.W361* Substitution - Nonsense 19:49908725-49908725 - CSCC-31-T COSM4512582 c.908C>T p.P303L Substitution - Missense 19:49908900-49908900 - SNU-175 COSM999512 c.1320C>T p.I440I Substitution - coding silent 19:49908488-49908488 - TCGA-B5-A11Y-01 COSM999510 c.1552C>T p.R518W Substitution - Missense 19:49908256-49908256 - B10 COSM254872 c.1540G>A p.E514K Substitution - Missense 19:49908268-49908268 - I2L-P19Ta-Tumor-Organoid COSM5365121 c.501A>G p.Q167Q Substitution - coding silent 19:49909307-49909307 - TCGA-56-5897-01 COSM713354 c.640A>G p.I214V Substitution - Missense 19:49909168-49909168 - CHC798T COSM4950688 c.253G>A p.G85R Substitution - Missense 19:49909555-49909555 - M030 COSM1740487 c.7G>A p.G3R Substitution - Missense 19:49909801-49909801 - TCGA-D9-A6EC-06 COSM4400426 c.1297A>C p.T433P Substitution - Missense 19:49908511-49908511 - LUAD-RT-S01703 COSM379647 c.469G>T p.G157C Substitution - Missense 19:49909339-49909339 - T1743 COSM4708787 c.1396G>A p.D466N Substitution - Missense 19:49908412-49908412 - EV002-R6 COSM1162054 c.293A>G p.N98S Substitution - Missense 19:49909515-49909515 - TCGA-BR-6452-01 COSM4080254 c.543G>A p.Q181Q Substitution - coding silent 19:49909265-49909265 - tumor_4135099 COSM3952979 c.876G>T p.L292F Substitution - Missense 19:49908932-49908932 - T3091 COSM4708786 c.1483C>T p.L495L Substitution - coding silent 19:49908325-49908325 - LC_C26 COSM1190115 c.977C>T p.S326F Substitution - Missense 19:49908831-49908831 - TCGA-AG-A00Y-01 COSM289952 c.380_381insT p.T128fs*301 Insertion - Frameshift 19:49909427-49909428 - TCGA-Q1-A73O-01 COSM4836221 c.1042G>A p.E348K Substitution - Missense 19:49908766-49908766 - TCGA-D1-A103-01 COSM999527 c.383C>T p.T128I Substitution - Missense 19:49909425-49909425 - TCGA-AL-3472-01 COSM3990175 c.1047G>A p.R349R Substitution - coding silent 19:49908761-49908761 - 526LT COSM148689 c.415G>A p.G139S Substitution - Missense 19:49909393-49909393 - TCGA-BR-8487-01 COSM4080251 c.985A>G p.T329A Substitution - Missense 19:49908823-49908823 - BCN35 COSM2753756 c.845_846insCAG p.S286_T287insS Insertion - In frame 19:49908962-49908963 - BD19T COSM5499748 c.756G>A p.G252G Substitution - coding silent 19:49909052-49909052 - TCGA-AC-A3W5-01 COSM3835414 c.731C>T p.T244I Substitution - Missense 19:49909077-49909077 - TCGA-BH-A18G-01 COSM5218248 c.254_255insG p.T86fs*38 Insertion - Frameshift 19:49909553-49909554 - H384 COSM5043950 c.727G>C p.V243L Substitution - Missense 19:49909081-49909081 - GC8_T COSM148689 c.415G>A p.G139S Substitution - Missense 19:49909393-49909393 - CHC798T COSM4950688 c.253G>A p.G85R Substitution - Missense 19:49909555-49909555 - T3724 COSM4708788 c.1150C>T p.L384L Substitution - coding silent 19:49908658-49908658 - TCGA-FV-A3R2-01 COSM4929357 c.1146G>T p.V382V Substitution - coding silent 19:49908662-49908662 - ESCC_21 COSM5626249 c.1022G>C p.S341T Substitution - Missense 19:49908786-49908786 - ESCC_133 COSM5642535 c.255_256insG p.T86fs*38 Insertion - Frameshift 19:49909552-49909553 - TCGA-02-2486-01 COSM3404470 c.1131C>T p.R377R Substitution - coding silent 19:49908677-49908677 - 46M COSM5588490 c.272G>A p.G91E Substitution - Missense 19:49909536-49909536 - T3182 COSM4708789 c.864C>T p.T288T Substitution - coding silent 19:49908944-49908944 - TCGA-DK-A1AC-01 COSM1304938 c.1020G>T p.W340C Substitution - Missense 19:49908788-49908788 - LUAD-CHTN-MAD06-00668 COSM359330 c.390C>A p.T130T Substitution - coding silent 19:49909418-49909418 - ESO-837 COSM1259743 c.939A>G p.P313P Substitution - coding silent 19:49908869-49908869 - 2168 COSM5013488 c.1213G>T p.D405Y Substitution - Missense 19:49908595-49908595 - TCGA-Q1-A5R3-01 COSM4080248 c.1380G>A p.T460T Substitution - coding silent 19:49908428-49908428 - TCGA-IR-A3LA-01 COSM4845098 c.199C>G p.P67A Substitution - Missense 19:49909609-49909609 - tumor_4159421 COSM5946681 c.1302C>G p.Y434* Substitution - Nonsense 19:49908506-49908506 - TCGA-AZ-4615-01 COSM999521 c.835_840delGCCACC p.A279_T280delAT Deletion - In frame 19:49908968-49908973 - TCGA-DD-A39Z-01 COSM4915858 c.962G>A p.G321E Substitution - Missense 19:49908846-49908846 - TCGA-A5-A0R7-01 COSM999529 c.94T>G p.F32V Substitution - Missense 19:49909714-49909714 -

Mutation - CGAP UNIGENE CYTOBAND OMIM SNP Hs.574438;Hs.574439;Hs.574443;Hs.574444;Hs.574445;Hs.574448;Hs.574450;Hs.574454;Hs.574460;Hs.574463;Hs.574466;Hs.574472;Hs.574473;Hs.574474;Hs.574475;Hs.574481;Hs.574482;Hs.574492 19q13.33 605815 2458092|CGAP|BC003663|C/T|coding|Tyr330Tyr|1321|Validated; 2458092|CGAP|BC014842|C/T|coding|Tyr330Tyr|1069|Validated; 2458092|CGAP|BC050717|C/T|coding|Tyr330Tyr|1195|Validated; 2458092|CGAP|BC095410|C/T|coding|Tyr330Tyr|1353|Validated; 2458092|CGAP|BC101104|C/T|coding|Tyr330Tyr|1184|Validated; 2458092|CGAP|BC101105|C/T|coding|Tyr330Tyr|1306|Validated; 2458092|CGAP|BC101106|C/T|coding|Tyr330Tyr|1093|Validated; 2458092|CGAP|BC101107|C/T|coding|Tyr330Tyr|1339|Validated; 1513241|dbSNP|BC014842|A/G|non-coding||2012|Candidate; 1513241|dbSNP|BC050717|A/G|non-coding||2138|Candidate; 1513241|dbSNP|BC095410|A/G|non-coding||2296|Candidate

Mutation - IntOGen Mutated from(ref) Mutated to(alt) Consequence Type AA Mutation CDS Mutation Chr Pos Cancer - A Frameshift p.S127Mfs*302 c.379_380insT 19 50412685 COREAD C A Missense p.A21S c.61G>T 19 50413004 LUSC C A Missense p.A94S c.280G>T 19 50412785 BRCA C A Missense p.G113C c.337G>T 19 50412728 SCLC C A Missense p.G3W c.7G>T 19 50413058 LUAD C A Missense p.G58C c.172G>T 19 50412893 CM CC AG Missense p.G162L c.484_485delinsCT 19 50412580 LUAD C G Missense p.D522H c.1564G>C 19 50411501 BRCA C G Missense p.G113R c.337G>C 19 50412728 LUSC C T Missense p.A322T c.964G>A 19 50412101 LUAD C T Missense p.E514K c.1540G>A 19 50411525 CLL C T Missense p.G289D c.866G>A 19 50412199 DLBCL C T Missense p.M1I c.3G>A 19 50413062 BLCA C T Missense p.R510H c.1529G>A 19 50411536 STAD C T Missense p.V310M c.928G>A 19 50412137 HNSC G A Missense p.A300V c.899C>T 19 50412166 CM G A Missense p.A82V c.245C>T 19 50412820 HNSC G A Missense p.L451F c.1351C>T 19 50411714 CM G A Missense p.P47S c.139C>T 19 50412926 CM G A Missense p.R349W c.1045C>T 19 50412020 STAD G A Missense p.R518W c.1552C>T 19 50411513 UCEC G C Missense p.T282S c.845C>G 19 50412220 STAD G C Missense p.T52R c.155C>G 19 50412910 HNSC - G Frameshift p.A465Rfs*5 c.1392dupC 19 50411673 RCCC GGTGGC - InFrameDeletion p.A279_T280delAT c.835_840delGCCACC 19 50412225 UCEC T C Missense p.I214V c.640A>G 19 50412425 LUSC T C Missense p.Y422C c.1265A>G 19 50411800 CM