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 59057194 59057194 + Silent SNP C C T TCGA-CU-A3YL-01A-11D-A22Z-08 TCGA-CU-A3YL-10A-01D-A22Z-08 g.chr19:59057194C>T c.517C>T c.(517-519)Ctg>Ttg p.L173L BLCA 19 59059181 59059181 + Nonsense_Mutation SNP C C T TCGA-ZF-A9R0-01A-11D-A38G-08 TCGA-ZF-A9R0-10A-01D-A38J-08 g.chr19:59059181C>T c.862C>T c.(862-864)Cag>Tag p.Q288* BLCA 19 59059228 59059228 + Missense_Mutation SNP G G A TCGA-DK-A6B1-01A-12D-A30E-08 TCGA-DK-A6B1-10A-01D-A30H-08 g.chr19:59059228G>A c.909G>A c.(907-909)atG>atA p.M303I BLCA 19 59059491 59059491 + Missense_Mutation SNP G G A TCGA-FD-A5BX-01A-11D-A26M-08 TCGA-FD-A5BX-10A-01D-A26K-08 g.chr19:59059491G>A c.1045G>A c.(1045-1047)Gcc>Acc p.A349T BLCA 19 59059693 59059693 + Missense_Mutation SNP G G A TCGA-DK-A2I4-01A-11D-A21A-08 TCGA-DK-A2I4-10A-01D-A21A-08 g.chr19:59059693G>A c.1134G>A c.(1132-1134)atG>atA p.M378I BLCA 19 59060782 59060782 + Missense_Mutation SNP G G A TCGA-BT-A20J-01A-11D-A14W-08 TCGA-BT-A20J-11A-11D-A14W-08 g.chr19:59060782G>A c.1747G>A c.(1747-1749)Gag>Aag p.E583K BRCA 19 59057200 59057200 + Missense_Mutation SNP G G A TCGA-A2-A0CR-01A-11D-A228-09 TCGA-A2-A0CR-10A-01D-A22A-09 g.chr19:59057200G>A c.523G>A c.(523-525)Gag>Aag p.E175K BRCA 19 59059687 59059687 + Silent SNP C C G TCGA-BH-A0DZ-01A-11W-A019-09 TCGA-BH-A0DZ-10A-01W-A021-09 g.chr19:59059687C>G c.1128C>G c.(1126-1128)ctC>ctG p.L376L BRCA 19 59059870 59059870 + Missense_Mutation SNP C C T TCGA-AO-A0J3-01A-11W-A050-09 TCGA-AO-A0J3-10A-01W-A055-09 g.chr19:59059870C>T c.1234C>T c.(1234-1236)Cgt>Tgt p.R412C BRCA 19 59059946 59059946 + Missense_Mutation SNP C C G TCGA-BH-A0DZ-01A-11W-A019-09 TCGA-BH-A0DZ-10A-01W-A021-09 g.chr19:59059946C>G c.1310C>G c.(1309-1311)tCt>tGt p.S437C BRCA 19 59061137 59061137 + Silent SNP C C T TCGA-GM-A2D9-01A-11D-A18P-09 TCGA-GM-A2D9-11A-42D-A18P-09 g.chr19:59061137C>T c.2016C>T c.(2014-2016)ctC>ctT p.L672L BRCA 19 59061549 59061549 + Silent SNP C C T TCGA-A8-A06P-01A-11W-A019-09 TCGA-A8-A06P-10A-01W-A021-09 g.chr19:59061549C>T c.2229C>T c.(2227-2229)atC>atT p.I743I CESC 19 59056853 59056853 + Missense_Mutation SNP C C A TCGA-EK-A2PG-01A-11D-A18J-09 TCGA-EK-A2PG-10A-01D-A18J-09 g.chr19:59056853C>A c.402C>A c.(400-402)ttC>ttA p.F134L CESC 19 59061167 59061167 + Silent SNP C C T TCGA-IR-A3LA-01A-11D-A22X-09 TCGA-IR-A3LA-10A-01D-A22X-09 g.chr19:59061167C>T c.2046C>T c.(2044-2046)ctC>ctT p.L682L COAD 19 59060404 59060404 + Nonsense_Mutation SNP C C T TCGA-A6-6653-01A-11D-1771-10 TCGA-A6-6653-10A-01D-1771-10 g.chr19:59060404C>T c.1459C>T c.(1459-1461)Cga>Tga p.R487* COAD 19 59061320 59061320 + Missense_Mutation SNP G G A TCGA-AA-3833-01A-01W-0900-09 TCGA-AA-3833-10A-01W-0900-09 g.chr19:59061320G>A c.2111G>A c.(2110-2112)tGt>tAt p.C704Y COAD 19 59061351 59061351 + Silent SNP C C T TCGA-AD-6890-01A-11D-1924-10 TCGA-AD-6890-10A-01D-1924-10 g.chr19:59061351C>T c.2142C>T c.(2140-2142)caC>caT p.H714H COAD 19 59061363 59061363 + Silent SNP C C T TCGA-AA-A01P-01A-21W-A096-10 TCGA-AA-A01P-11A-11W-A096-10 g.chr19:59061363C>T c.2154C>T c.(2152-2154)cgC>cgT p.R718R COADREAD 19 59060404 59060404 + Nonsense_Mutation SNP C C T TCGA-A6-6653-01A-11D-1771-10 TCGA-A6-6653-10A-01D-1771-10 g.chr19:59060404C>T c.1459C>T c.(1459-1461)Cga>Tga p.R487* COADREAD 19 59060556 59060556 + Silent SNP G G A TCGA-EI-6507-01A-11D-1733-10 TCGA-EI-6507-10A-01D-1733-10 g.chr19:59060556G>A c.1611G>A c.(1609-1611)gcG>gcA p.A537A COADREAD 19 59061320 59061320 + Missense_Mutation SNP G G A TCGA-AA-3833-01A-01W-0900-09 TCGA-AA-3833-10A-01W-0900-09 g.chr19:59061320G>A c.2111G>A c.(2110-2112)tGt>tAt p.C704Y COADREAD 19 59061325 59061325 + Missense_Mutation SNP C C T TCGA-AG-A02N-01A-11W-A096-10 TCGA-AG-A02N-11A-11W-A096-10 g.chr19:59061325C>T c.2116C>T c.(2116-2118)Cgt>Tgt p.R706C COADREAD 19 59061351 59061351 + Silent SNP C C T TCGA-AD-6890-01A-11D-1924-10 TCGA-AD-6890-10A-01D-1924-10 g.chr19:59061351C>T c.2142C>T c.(2140-2142)caC>caT p.H714H COADREAD 19 59061363 59061363 + Silent SNP C C T TCGA-AA-A01P-01A-21W-A096-10 TCGA-AA-A01P-11A-11W-A096-10 g.chr19:59061363C>T c.2154C>T c.(2152-2154)cgC>cgT p.R718R ESCA 19 59056833 59056833 + Missense_Mutation SNP G G T TCGA-Z6-A8JE-01A-11D-A37C-09 TCGA-Z6-A8JE-10A-01D-A37F-09 g.chr19:59056833G>T c.382G>T c.(382-384)Gac>Tac p.D128Y ESCA 19 59060995 59060995 + Missense_Mutation SNP C C T TCGA-2H-A9GQ-01A-11D-A37C-09 TCGA-2H-A9GQ-11A-11D-A37F-09 g.chr19:59060995C>T c.1960C>T c.(1960-1962)Ccg>Tcg p.P654S GBMLGG 19 59057241 59057241 + Silent SNP G G A TCGA-DU-6392-01A-11D-1705-08 TCGA-DU-6392-10A-01D-1705-08 g.chr19:59057241G>A c.564G>A c.(562-564)aaG>aaA p.K188K GBMLGG 19 59059532 59059532 + Missense_Mutation SNP G G T TCGA-DU-6407-01A-13D-1705-08 TCGA-DU-6407-10A-01D-1705-08 g.chr19:59059532G>T c.1086G>T c.(1084-1086)ttG>ttT p.L362F GBMLGG 19 59061018 59061021 + Splice_Site DEL GTGA GTGA - TCGA-DU-7300-01A-21D-2086-08 TCGA-DU-7300-10A-01D-2086-08 g.chr19:59061018_59061021delGTGA c.e13+1 GBMLGG 19 59061149 59061149 + Missense_Mutation SNP G G T TCGA-DU-6392-01A-11D-1705-08 TCGA-DU-6392-10A-01D-1705-08 g.chr19:59061149G>T c.2028G>T c.(2026-2028)aaG>aaT p.K676N GBMLGG 19 59061781 59061781 + Missense_Mutation SNP G G A TCGA-DU-6392-01A-11D-1705-08 TCGA-DU-6392-10A-01D-1705-08 g.chr19:59061781G>A c.2369G>A c.(2368-2370)cGc>cAc p.R790H HNSC 19 59060728 59060728 + Missense_Mutation SNP C C A TCGA-BA-5152-01A-02D-1870-08 TCGA-BA-5152-10A-01D-1870-08 g.chr19:59060728C>A c.1693C>A c.(1693-1695)Cct>Act p.P565T HNSC 19 59061536 59061536 + Missense_Mutation SNP A A T TCGA-UF-A7JS-01A-11D-A34J-08 TCGA-UF-A7JS-10A-01D-A34M-08 g.chr19:59061536A>T c.2216A>T c.(2215-2217)gAt>gTt p.D739V HNSC 19 59061843 59061843 + Missense_Mutation SNP G G C TCGA-KU-A66S-01A-21D-A30E-08 TCGA-KU-A66S-10A-01D-A30H-08 g.chr19:59061843G>C c.2431G>C c.(2431-2433)Gag>Cag p.E811Q KIPAN 19 59057138 59057138 + Missense_Mutation SNP C C G TCGA-CJ-4904-01A-02D-1429-08 TCGA-CJ-4904-11A-01D-1429-08 g.chr19:59057138C>G c.461C>G c.(460-462)aCt>aGt p.T154S KIPAN 19 59057198 59057198 + Missense_Mutation SNP G G A TCGA-DZ-6135-01A-11D-1961-08 TCGA-DZ-6135-10A-01D-1962-08 g.chr19:59057198G>A c.521G>A c.(520-522)tGt>tAt p.C174Y KIPAN 19 59060112 59060112 + Missense_Mutation SNP G G A TCGA-BP-4970-01A-01D-1462-08 TCGA-BP-4970-11A-01D-1462-08 g.chr19:59060112G>A c.1329G>A c.(1327-1329)atG>atA p.M443I KIPAN 19 59060881 59060881 + Missense_Mutation SNP G G A TCGA-BP-4330-01A-01D-1366-10 TCGA-BP-4330-11A-01D-1366-10 g.chr19:59060881G>A c.1846G>A c.(1846-1848)Ggt>Agt p.G616S KIRC 19 59057138 59057138 + Missense_Mutation SNP C C G TCGA-CJ-4904-01A-02D-1429-08 TCGA-CJ-4904-11A-01D-1429-08 g.chr19:59057138C>G c.461C>G c.(460-462)aCt>aGt p.T154S KIRC 19 59060112 59060112 + Missense_Mutation SNP G G A TCGA-BP-4970-01A-01D-1462-08 TCGA-BP-4970-11A-01D-1462-08 g.chr19:59060112G>A c.1329G>A c.(1327-1329)atG>atA p.M443I KIRC 19 59060881 59060881 + Missense_Mutation SNP G G A TCGA-BP-4330-01A-01D-1366-10 TCGA-BP-4330-11A-01D-1366-10 g.chr19:59060881G>A c.1846G>A c.(1846-1848)Ggt>Agt p.G616S KIRP 19 59057198 59057198 + Missense_Mutation SNP G G A TCGA-DZ-6135-01A-11D-1961-08 TCGA-DZ-6135-10A-01D-1962-08 g.chr19:59057198G>A c.521G>A c.(520-522)tGt>tAt p.C174Y LGG 19 59057241 59057241 + Silent SNP G G A TCGA-DU-6392-01A-11D-1705-08 TCGA-DU-6392-10A-01D-1705-08 g.chr19:59057241G>A c.564G>A c.(562-564)aaG>aaA p.K188K LGG 19 59059532 59059532 + Missense_Mutation SNP G G T TCGA-DU-6407-01A-13D-1705-08 TCGA-DU-6407-10A-01D-1705-08 g.chr19:59059532G>T c.1086G>T c.(1084-1086)ttG>ttT p.L362F LGG 19 59061018 59061021 + Splice_Site DEL GTGA GTGA - TCGA-DU-7300-01A-21D-2086-08 TCGA-DU-7300-10A-01D-2086-08 g.chr19:59061018_59061021delGTGA c.e13+1 LGG 19 59061149 59061149 + Missense_Mutation SNP G G T TCGA-DU-6392-01A-11D-1705-08 TCGA-DU-6392-10A-01D-1705-08 g.chr19:59061149G>T c.2028G>T c.(2026-2028)aaG>aaT p.K676N LGG 19 59061781 59061781 + Missense_Mutation SNP G G A TCGA-DU-6392-01A-11D-1705-08 TCGA-DU-6392-10A-01D-1705-08 g.chr19:59061781G>A c.2369G>A c.(2368-2370)cGc>cAc p.R790H LIHC 19 59059077 59059077 + Missense_Mutation SNP G G A TCGA-4R-AA8I-01A-11D-A382-10 TCGA-4R-AA8I-10B-01D-A385-10 g.chr19:59059077G>A c.836G>A c.(835-837)aGc>aAc p.S279N LIHC 19 59059680 59059680 + Missense_Mutation SNP G G A TCGA-CC-A1HT-01A-11D-A12Z-10 TCGA-CC-A1HT-10A-01D-A12Z-10 g.chr19:59059680G>A c.1121G>A c.(1120-1122)cGg>cAg p.R374Q LIHC 19 59061183 59061183 + Missense_Mutation SNP G G T TCGA-BC-A3KF-01A-11D-A20W-10 TCGA-BC-A3KF-10A-01D-A20W-10 g.chr19:59061183G>T c.2062G>T c.(2062-2064)Gac>Tac p.D688Y LUAD 19 59059178 59059178 + Missense_Mutation SNP G G A TCGA-38-4632-01A-01D-1753-08 TCGA-38-4632-11A-01D-1753-08 g.chr19:59059178G>A c.859G>A c.(859-861)Gta>Ata p.V287I LUAD 19 59059660 59059660 + Splice_Site SNP G G A TCGA-86-A4JF-01A-11D-A24P-08 TCGA-86-A4JF-10A-01D-A24P-08 g.chr19:59059660G>A c.e8-1 LUAD 19 59060353 59060353 + Splice_Site SNP A A G TCGA-86-7954-01A-11D-2184-08 TCGA-86-7954-10A-01D-2184-08 g.chr19:59060353A>G c.e12-1 LUAD 19 59060467 59060467 + Missense_Mutation SNP G G C TCGA-73-4662-01A-01D-1265-08 TCGA-73-4662-11A-01D-1265-08 g.chr19:59060467G>C c.1522G>C c.(1522-1524)Gtc>Ctc p.V508L LUAD 19 59060599 59060599 + Missense_Mutation SNP A A G TCGA-J2-A4AD-01A-11D-A24D-08 TCGA-J2-A4AD-10A-01D-A24F-08 g.chr19:59060599A>G c.1654A>G c.(1654-1656)Att>Gtt p.I552V LUAD 19 59060803 59060803 + Missense_Mutation SNP C C T TCGA-50-5930-01A-11D-1753-08 TCGA-50-5930-11A-01D-1753-08 g.chr19:59060803C>T c.1768C>T c.(1768-1770)Ccc>Tcc p.P590S LUSC 19 59061390 59061390 + Silent SNP C C T TCGA-39-5019-01A-01D-1817-08 TCGA-39-5019-11A-01D-1817-08 g.chr19:59061390C>T c.2181C>T c.(2179-2181)tcC>tcT p.S727S PAAD 19 59057217 59057217 + Silent SNP G G A TCGA-Q3-A5QY-01A-12D-A32N-08 TCGA-Q3-A5QY-10A-01D-A32N-08 g.chr19:59057217G>A c.540G>A c.(538-540)gcG>gcA p.A180A PAAD 19 59061796 59061796 + Missense_Mutation SNP G G A TCGA-HV-A7OL-01A-11D-A33T-08 TCGA-HV-A7OL-10A-01D-A33W-08 g.chr19:59061796G>A c.2384G>A c.(2383-2385)cGc>cAc p.R795H PRAD 19 59059081 59059082 + Splice_Site INS - - T TCGA-EJ-7312-01B-21D-A32B-08 TCGA-EJ-7312-10A-01D-A329-08 g.chr19:59059081_59059082insT c.e5+1 PRAD 19 59059687 59059687 + Silent SNP C C G TCGA-HC-7749-01A-11D-2114-08 TCGA-HC-7749-10A-01D-2115-08 g.chr19:59059687C>G c.1128C>G c.(1126-1128)ctC>ctG p.L376L PRAD 19 59060418 59060418 + Missense_Mutation SNP A A T TCGA-KK-A8IC-01A-11D-A364-08 TCGA-KK-A8IC-11A-12D-A362-08 g.chr19:59060418A>T c.1473A>T c.(1471-1473)gaA>gaT p.E491D PRAD 19 59060745 59060745 + Silent SNP G G A TCGA-YL-A8HO-01A-11D-A364-08 TCGA-YL-A8HO-10A-01D-A362-08 g.chr19:59060745G>A c.1710G>A c.(1708-1710)gaG>gaA p.E570E PRAD 19 59061121 59061121 + Missense_Mutation SNP C C T TCGA-YJ-A8SW-01A-11D-A377-08 TCGA-YJ-A8SW-10A-01D-A37A-08 g.chr19:59061121C>T c.2000C>T c.(1999-2001)tCa>tTa p.S667L READ 19 59060556 59060556 + Silent SNP G G A TCGA-EI-6507-01A-11D-1733-10 TCGA-EI-6507-10A-01D-1733-10 g.chr19:59060556G>A c.1611G>A c.(1609-1611)gcG>gcA p.A537A READ 19 59061325 59061325 + Missense_Mutation SNP C C T TCGA-AG-A02N-01A-11W-A096-10 TCGA-AG-A02N-11A-11W-A096-10 g.chr19:59061325C>T c.2116C>T c.(2116-2118)Cgt>Tgt p.R706C SKCM 19 59057158 59057158 + Missense_Mutation SNP C C T TCGA-GN-A268-06A-11D-A196-08 TCGA-GN-A268-10A-01D-A198-08 g.chr19:59057158C>T c.481C>T c.(481-483)Cca>Tca p.P161S SKCM 19 59057159 59057159 + Missense_Mutation SNP C C T TCGA-GN-A268-06A-11D-A196-08 TCGA-GN-A268-10A-01D-A198-08 g.chr19:59057159C>T c.482C>T c.(481-483)cCa>cTa p.P161L SKCM 19 59058766 59058766 + Missense_Mutation SNP G G A TCGA-D3-A5GU-06A-11D-A27K-08 TCGA-D3-A5GU-10A-01D-A27N-08 g.chr19:59058766G>A c.610G>A c.(610-612)Gaa>Aaa p.E204K SKCM 19 59059032 59059032 + Missense_Mutation SNP G G A TCGA-QB-A6FS-06A-11D-A30X-08 TCGA-QB-A6FS-10A-01D-A30X-08 g.chr19:59059032G>A c.791G>A c.(790-792)gGg>gAg p.G264E SKCM 19 59059687 59059687 + Silent SNP C C T TCGA-EE-A29C-06A-21D-A197-08 TCGA-EE-A29C-10A-01D-A199-08 g.chr19:59059687C>T c.1128C>T c.(1126-1128)ctC>ctT p.L376L SKCM 19 59059887 59059887 + Silent SNP A A C TCGA-DA-A1I0-06A-11D-A20D-08 TCGA-DA-A1I0-10B-01D-A20D-08 g.chr19:59059887A>C c.1251A>C c.(1249-1251)tcA>tcC p.S417S SKCM 19 59060419 59060419 + Missense_Mutation SNP C C T TCGA-D3-A1Q1-06A-21D-A196-08 TCGA-D3-A1Q1-10A-01D-A198-08 g.chr19:59060419C>T c.1474C>T c.(1474-1476)Cgc>Tgc p.R492C SKCM 19 59060877 59060877 + Silent SNP A A G TCGA-EB-A5SH-06A-11D-A30X-08 TCGA-EB-A5SH-10A-01D-A30X-08 g.chr19:59060877A>G c.1842A>G c.(1840-1842)ccA>ccG p.P614P SKCM 19 59061522 59061522 + Silent SNP C C T TCGA-D3-A51R-06A-11D-A25O-08 TCGA-D3-A51R-10A-01D-A25O-08 g.chr19:59061522C>T c.2202C>T c.(2200-2202)ccC>ccT p.P734P

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 59060787 59060787 single base substitution T G downstream_gene_variant BLCA-CN 19 59060787 59060787 single base substitution T G exon_variant BLCA-CN 19 59060787 59060787 single base substitution T G synonymous_variant G209G 627T>G BLCA-CN 19 59060787 59060787 single base substitution T G synonymous_variant G502G 1506T>G BLCA-CN 19 59060787 59060787 single base substitution T G synonymous_variant G584G 1752T>G BLCA-CN 19 59060787 59060787 single base substitution T G upstream_gene_variant BLCA-US 19 59057194 59057194 single base substitution C T intron_variant BLCA-US 19 59057194 59057194 single base substitution C T synonymous_variant L173L 517C>T BLCA-US 19 59057194 59057194 single base substitution C T synonymous_variant L39L 115C>T BLCA-US 19 59057194 59057194 single base substitution C T synonymous_variant L85L 253C>T BLCA-US 19 59057194 59057194 single base substitution C T upstream_gene_variant BLCA-US 19 59059693 59059693 single base substitution G A downstream_gene_variant BLCA-US 19 59059693 59059693 single base substitution G A exon_variant BLCA-US 19 59059693 59059693 single base substitution G A missense_variant M11I 33G>A BLCA-US 19 59059693 59059693 single base substitution G A missense_variant M296I 888G>A BLCA-US 19 59059693 59059693 single base substitution G A missense_variant M378I 1134G>A BLCA-US 19 59059693 59059693 single base substitution G A upstream_gene_variant BLCA-US 19 59060782 59060782 single base substitution G A downstream_gene_variant BLCA-US 19 59060782 59060782 single base substitution G A exon_variant BLCA-US 19 59060782 59060782 single base substitution G A missense_variant E208K 622G>A BLCA-US 19 59060782 59060782 single base substitution G A missense_variant E501K 1501G>A BLCA-US 19 59060782 59060782 single base substitution G A missense_variant E583K 1747G>A BLCA-US 19 59060782 59060782 single base substitution G A upstream_gene_variant BLCA-US 19 59063309 59063309 single base substitution C G downstream_gene_variant BLCA-US 19 59063424 59063424 single base substitution C T downstream_gene_variant BLCA-US 19 59063429 59063429 single base substitution C T downstream_gene_variant BLCA-US 19 59063468 59063468 single base substitution C T downstream_gene_variant BOCA-FR 19 59050659 59050659 single base substitution C T upstream_gene_variant BRCA-EU 19 59050842 59050842 single base substitution G A upstream_gene_variant BRCA-EU 19 59051105 59051105 single base substitution C T upstream_gene_variant BRCA-EU 19 59051503 59051503 single base substitution T G upstream_gene_variant BRCA-EU 19 59052018 59052018 single base substitution C G upstream_gene_variant BRCA-EU 19 59053156 59053156 single base substitution C G upstream_gene_variant BRCA-EU 19 59053585 59053585 single base substitution A G upstream_gene_variant BRCA-EU 19 59053761 59053761 single base substitution C G upstream_gene_variant BRCA-EU 19 59054338 59054338 single base substitution C T upstream_gene_variant BRCA-EU 19 59054480 59054480 single base substitution G T upstream_gene_variant BRCA-EU 19 59055404 59055404 single base substitution C G upstream_gene_variant BRCA-EU 19 59056285 59056285 single base substitution G C intron_variant BRCA-EU 19 59056285 59056285 single base substitution G C missense_variant G54A 161G>C BRCA-EU 19 59056285 59056285 single base substitution G C upstream_gene_variant BRCA-EU 19 59056519 59056519 single base substitution G C intron_variant BRCA-EU 19 59056519 59056519 single base substitution G C upstream_gene_variant BRCA-EU 19 59058018 59058018 single base substitution G T downstream_gene_variant BRCA-EU 19 59058018 59058018 single base substitution G T intron_variant BRCA-EU 19 59058018 59058018 single base substitution G T upstream_gene_variant BRCA-EU 19 59060255 59060255 single base substitution C T downstream_gene_variant BRCA-EU 19 59060255 59060255 single base substitution C T exon_variant BRCA-EU 19 59060255 59060255 single base substitution C T missense_variant P381S 1141C>T BRCA-EU 19 59060255 59060255 single base substitution C T missense_variant P463S 1387C>T BRCA-EU 19 59060255 59060255 single base substitution C T missense_variant P88S 262C>T BRCA-EU 19 59060255 59060255 single base substitution C T upstream_gene_variant BRCA-EU 19 59062479 59062479 deletion of <=200bp T - downstream_gene_variant BRCA-EU 19 59063849 59063849 single base substitution T G downstream_gene_variant BRCA-EU 19 59064535 59064535 single base substitution C T downstream_gene_variant BRCA-EU 19 59066071 59066071 single base substitution C G downstream_gene_variant BRCA-EU 19 59066455 59066455 single base substitution C G downstream_gene_variant BRCA-FR 19 59056519 59056519 single base substitution G C intron_variant BRCA-FR 19 59056519 59056519 single base substitution G C upstream_gene_variant BRCA-UK 19 59053178 59053178 single base substitution C G upstream_gene_variant BRCA-UK 19 59063849 59063849 single base substitution T G downstream_gene_variant BRCA-US 19 59057200 59057200 single base substitution G A intron_variant BRCA-US 19 59057200 59057200 single base substitution G A missense_variant E175K 523G>A BRCA-US 19 59057200 59057200 single base substitution G A missense_variant E41K 121G>A BRCA-US 19 59057200 59057200 single base substitution G A missense_variant E87K 259G>A BRCA-US 19 59057200 59057200 single base substitution G A upstream_gene_variant BRCA-US 19 59059687 59059687 single base substitution C G downstream_gene_variant BRCA-US 19 59059687 59059687 single base substitution C G exon_variant BRCA-US 19 59059687 59059687 single base substitution C G synonymous_variant L294L 882C>G BRCA-US 19 59059687 59059687 single base substitution C G synonymous_variant L376L 1128C>G BRCA-US 19 59059687 59059687 single base substitution C G synonymous_variant L9L 27C>G BRCA-US 19 59059687 59059687 single base substitution C G upstream_gene_variant BRCA-US 19 59059870 59059870 single base substitution C T downstream_gene_variant BRCA-US 19 59059870 59059870 single base substitution C T exon_variant BRCA-US 19 59059870 59059870 single base substitution C T missense_variant R330C 988C>T BRCA-US 19 59059870 59059870 single base substitution C T missense_variant R412C 1234C>T BRCA-US 19 59059870 59059870 single base substitution C T missense_variant R45C 133C>T BRCA-US 19 59059870 59059870 single base substitution C T upstream_gene_variant BRCA-US 19 59059946 59059946 single base substitution C G downstream_gene_variant BRCA-US 19 59059946 59059946 single base substitution C G exon_variant BRCA-US 19 59059946 59059946 single base substitution C G missense_variant S355C 1064C>G BRCA-US 19 59059946 59059946 single base substitution C G missense_variant S437C 1310C>G BRCA-US 19 59059946 59059946 single base substitution C G missense_variant S70C 209C>G BRCA-US 19 59059946 59059946 single base substitution C G upstream_gene_variant BRCA-US 19 59061137 59061137 single base substitution C T downstream_gene_variant BRCA-US 19 59061137 59061137 single base substitution C T exon_variant BRCA-US 19 59061137 59061137 single base substitution C T synonymous_variant L297L 891C>T BRCA-US 19 59061137 59061137 single base substitution C T synonymous_variant L590L 1770C>T BRCA-US 19 59061137 59061137 single base substitution C T synonymous_variant L672L 2016C>T BRCA-US 19 59061549 59061549 single base substitution C T downstream_gene_variant BRCA-US 19 59061549 59061549 single base substitution C T exon_variant BRCA-US 19 59061549 59061549 single base substitution C T synonymous_variant I368I 1104C>T BRCA-US 19 59061549 59061549 single base substitution C T synonymous_variant I661I 1983C>T BRCA-US 19 59061549 59061549 single base substitution C T synonymous_variant I743I 2229C>T BRCA-US 19 59063456 59063456 single base substitution C T downstream_gene_variant BRCA-US 19 59063478 59063478 single base substitution C G downstream_gene_variant BRCA-US 19 59063683 59063683 single base substitution G A downstream_gene_variant BTCA-JP 19 59056408 59056408 single base substitution C T 5_prime_UTR_variant BTCA-JP 19 59056408 59056408 single base substitution C T intron_variant BTCA-JP 19 59056408 59056408 single base substitution C T missense_variant A95V 284C>T BTCA-JP 19 59056408 59056408 single base substitution C T upstream_gene_variant BTCA-JP 19 59056942 59056942 single base substitution G T intron_variant BTCA-JP 19 59056942 59056942 single base substitution G T upstream_gene_variant BTCA-JP 19 59060587 59060587 single base substitution G A downstream_gene_variant BTCA-JP 19 59060587 59060587 single base substitution G A exon_variant BTCA-JP 19 59060587 59060587 single base substitution G A missense_variant A173T 517G>A BTCA-JP 19 59060587 59060587 single base substitution G A missense_variant A466T 1396G>A BTCA-JP 19 59060587 59060587 single base substitution G A missense_variant A548T 1642G>A BTCA-JP 19 59060587 59060587 single base substitution G A upstream_gene_variant BTCA-JP 19 59061264 59061264 single base substitution G C downstream_gene_variant BTCA-JP 19 59061264 59061264 single base substitution G C exon_variant BTCA-JP 19 59061264 59061264 single base substitution G C intron_variant BTCA-JP 19 59063265 59063265 single base substitution G A downstream_gene_variant CESC-US 19 59056853 59056853 single base substitution C A 5_prime_UTR_variant CESC-US 19 59056853 59056853 single base substitution C A intron_variant CESC-US 19 59056853 59056853 single base substitution C A missense_variant F134L 402C>A CESC-US 19 59056853 59056853 single base substitution C A missense_variant F46L 138C>A CESC-US 19 59056853 59056853 single base substitution C A upstream_gene_variant CESC-US 19 59061167 59061167 single base substitution C T downstream_gene_variant CESC-US 19 59061167 59061167 single base substitution C T exon_variant CESC-US 19 59061167 59061167 single base substitution C T synonymous_variant L307L 921C>T CESC-US 19 59061167 59061167 single base substitution C T synonymous_variant L600L 1800C>T CESC-US 19 59061167 59061167 single base substitution C T synonymous_variant L682L 2046C>T CLLE-ES 19 59051294 59051294 single base substitution T C upstream_gene_variant CLLE-ES 19 59054112 59054112 single base substitution G C upstream_gene_variant CLLE-ES 19 59065588 59065588 single base substitution A G downstream_gene_variant COAD-US 19 59059729 59059729 single base substitution G A downstream_gene_variant COAD-US 19 59059729 59059729 single base substitution G A exon_variant COAD-US 19 59059729 59059729 single base substitution G A synonymous_variant K23K 69G>A COAD-US 19 59059729 59059729 single base substitution G A synonymous_variant K308K 924G>A COAD-US 19 59059729 59059729 single base substitution G A synonymous_variant K390K 1170G>A COAD-US 19 59059729 59059729 single base substitution G A upstream_gene_variant COAD-US 19 59060404 59060404 single base substitution C T downstream_gene_variant COAD-US 19 59060404 59060404 single base substitution C T exon_variant COAD-US 19 59060404 59060404 single base substitution C T stop_gained R112* 334C>T COAD-US 19 59060404 59060404 single base substitution C T stop_gained R405* 1213C>T COAD-US 19 59060404 59060404 single base substitution C T stop_gained R487* 1459C>T COAD-US 19 59060404 59060404 single base substitution C T upstream_gene_variant COAD-US 19 59061351 59061351 single base substitution C T downstream_gene_variant COAD-US 19 59061351 59061351 single base substitution C T exon_variant COAD-US 19 59061351 59061351 single base substitution C T synonymous_variant H339H 1017C>T COAD-US 19 59061351 59061351 single base substitution C T synonymous_variant H632H 1896C>T COAD-US 19 59061351 59061351 single base substitution C T synonymous_variant H714H 2142C>T COAD-US 19 59061357 59061357 single base substitution C T downstream_gene_variant COAD-US 19 59061357 59061357 single base substitution C T exon_variant COAD-US 19 59061357 59061357 single base substitution C T synonymous_variant P341P 1023C>T COAD-US 19 59061357 59061357 single base substitution C T synonymous_variant P634P 1902C>T COAD-US 19 59061357 59061357 single base substitution C T synonymous_variant P716P 2148C>T COAD-US 19 59065487 59065487 single base substitution G A downstream_gene_variant COCA-CN 19 59057115 59057115 single base substitution T C intron_variant COCA-CN 19 59057115 59057115 single base substitution T C upstream_gene_variant COCA-CN 19 59061845 59061845 single base substitution G C downstream_gene_variant COCA-CN 19 59061845 59061845 single base substitution G C exon_variant COCA-CN 19 59061845 59061845 single base substitution G C missense_variant E436D 1308G>C COCA-CN 19 59061845 59061845 single base substitution G C missense_variant E729D 2187G>C COCA-CN 19 59061845 59061845 single base substitution G C missense_variant E811D 2433G>C COCA-CN 19 59063026 59063026 single base substitution C T downstream_gene_variant COCA-CN 19 59063771 59063771 single base substitution C T downstream_gene_variant COCA-CN 19 59065451 59065451 single base substitution G T downstream_gene_variant EOPC-DE 19 59066605 59066605 single base substitution C G downstream_gene_variant ESAD-UK 19 59051099 59051101 deletion of <=200bp CCT - upstream_gene_variant ESAD-UK 19 59054312 59054312 single base substitution T G upstream_gene_variant ESAD-UK 19 59054688 59054688 single base substitution C T upstream_gene_variant ESAD-UK 19 59054853 59054853 single base substitution C A upstream_gene_variant ESAD-UK 19 59056243 59056243 single base substitution C T intron_variant ESAD-UK 19 59056243 59056243 single base substitution C T missense_variant A40V 119C>T ESAD-UK 19 59056243 59056243 single base substitution C T upstream_gene_variant ESAD-UK 19 59061521 59061521 single base substitution C T downstream_gene_variant ESAD-UK 19 59061521 59061521 single base substitution C T exon_variant ESAD-UK 19 59061521 59061521 single base substitution C T missense_variant P359L 1076C>T ESAD-UK 19 59061521 59061521 single base substitution C T missense_variant P652L 1955C>T ESAD-UK 19 59061521 59061521 single base substitution C T missense_variant P734L 2201C>T ESAD-UK 19 59062000 59062000 single base substitution C T 3_prime_UTR_variant ESAD-UK 19 59062000 59062000 single base substitution C T downstream_gene_variant ESAD-UK 19 59062000 59062000 single base substitution C T exon_variant ESAD-UK 19 59065140 59065140 insertion of <=200bp - T downstream_gene_variant ESAD-UK 19 59066845 59066845 single base substitution C T downstream_gene_variant ESCA-CN 19 59061512 59061512 single base substitution A T downstream_gene_variant ESCA-CN 19 59061512 59061512 single base substitution A T splice_acceptor_variant ESCA-CN 19 59063073 59063073 single base substitution G T downstream_gene_variant ESCA-CN 19 59065454 59065454 single base substitution T G downstream_gene_variant GACA-CN 19 59060265 59060265 single base substitution C G downstream_gene_variant GACA-CN 19 59060265 59060265 single base substitution C G exon_variant GACA-CN 19 59060265 59060265 single base substitution C G stop_gained S384* 1151C>G GACA-CN 19 59060265 59060265 single base substitution C G stop_gained S466* 1397C>G GACA-CN 19 59060265 59060265 single base substitution C G stop_gained S91* 272C>G GACA-CN 19 59060265 59060265 single base substitution C G upstream_gene_variant KIRC-US 19 59057138 59057138 single base substitution C G intron_variant KIRC-US 19 59057138 59057138 single base substitution C G missense_variant T154S 461C>G KIRC-US 19 59057138 59057138 single base substitution C G missense_variant T20S 59C>G KIRC-US 19 59057138 59057138 single base substitution C G missense_variant T66S 197C>G KIRC-US 19 59057138 59057138 single base substitution C G upstream_gene_variant KIRC-US 19 59060112 59060112 single base substitution G A downstream_gene_variant KIRC-US 19 59060112 59060112 single base substitution G A exon_variant KIRC-US 19 59060112 59060112 single base substitution G A missense_variant M361I 1083G>A KIRC-US 19 59060112 59060112 single base substitution G A missense_variant M443I 1329G>A KIRC-US 19 59060112 59060112 single base substitution G A missense_variant M76I 228G>A KIRC-US 19 59060112 59060112 single base substitution G A upstream_gene_variant KIRC-US 19 59060881 59060881 single base substitution G A downstream_gene_variant KIRC-US 19 59060881 59060881 single base substitution G A exon_variant KIRC-US 19 59060881 59060881 single base substitution G A missense_variant G241S 721G>A KIRC-US 19 59060881 59060881 single base substitution G A missense_variant G534S 1600G>A KIRC-US 19 59060881 59060881 single base substitution G A missense_variant G616S 1846G>A KIRC-US 19 59060881 59060881 single base substitution G A upstream_gene_variant KIRP-US 19 59057198 59057198 single base substitution G A intron_variant KIRP-US 19 59057198 59057198 single base substitution G A missense_variant C174Y 521G>A KIRP-US 19 59057198 59057198 single base substitution G A missense_variant C40Y 119G>A KIRP-US 19 59057198 59057198 single base substitution G A missense_variant C86Y 257G>A KIRP-US 19 59057198 59057198 single base substitution G A upstream_gene_variant KIRP-US 19 59063432 59063432 insertion of <=200bp - T downstream_gene_variant LAML-KR 19 59050624 59050624 single base substitution C A upstream_gene_variant LAML-KR 19 59050665 59050665 single base substitution G C upstream_gene_variant LAML-KR 19 59051013 59051013 single base substitution C G upstream_gene_variant LAML-KR 19 59051612 59051612 single base substitution T G upstream_gene_variant LAML-KR 19 59051666 59051666 single base substitution A C upstream_gene_variant LAML-KR 19 59051974 59051974 single base substitution C A upstream_gene_variant LAML-KR 19 59052210 59052210 single base substitution G C upstream_gene_variant LAML-KR 19 59052645 59052645 single base substitution G A upstream_gene_variant LAML-KR 19 59052703 59052703 single base substitution T G upstream_gene_variant LAML-KR 19 59052986 59052986 single base substitution C G upstream_gene_variant LAML-KR 19 59053243 59053243 single base substitution C T upstream_gene_variant LAML-KR 19 59053448 59053448 single base substitution G C upstream_gene_variant LAML-KR 19 59053720 59053720 single base substitution T C upstream_gene_variant LAML-KR 19 59053761 59053761 single base substitution C G upstream_gene_variant LAML-KR 19 59058693 59058693 single base substitution G A downstream_gene_variant LAML-KR 19 59058693 59058693 single base substitution G A exon_variant LAML-KR 19 59058693 59058693 single base substitution G A intron_variant LAML-KR 19 59058693 59058693 single base substitution G A upstream_gene_variant LAML-KR 19 59059729 59059729 single base substitution G A downstream_gene_variant LAML-KR 19 59059729 59059729 single base substitution G A exon_variant LAML-KR 19 59059729 59059729 single base substitution G A synonymous_variant K23K 69G>A LAML-KR 19 59059729 59059729 single base substitution G A synonymous_variant K308K 924G>A LAML-KR 19 59059729 59059729 single base substitution G A synonymous_variant K390K 1170G>A LAML-KR 19 59059729 59059729 single base substitution G A upstream_gene_variant LGG-US 19 59061018 59061021 deletion of <=200bp GTGA - downstream_gene_variant LGG-US 19 59061018 59061021 deletion of <=200bp GTGA - exon_variant LGG-US 19 59061018 59061021 deletion of <=200bp GTGA - splice_donor_variant LICA-CN 19 59056298 59056298 single base substitution G A intron_variant LICA-CN 19 59056298 59056298 single base substitution G A splice_region_variant LICA-CN 19 59056298 59056298 single base substitution G A synonymous_variant A58A 174G>A LICA-CN 19 59056298 59056298 single base substitution G A upstream_gene_variant LICA-CN 19 59059760 59059760 single base substitution A G downstream_gene_variant LICA-CN 19 59059760 59059760 single base substitution A G exon_variant LICA-CN 19 59059760 59059760 single base substitution A G missense_variant S319G 955A>G LICA-CN 19 59059760 59059760 single base substitution A G missense_variant S34G 100A>G LICA-CN 19 59059760 59059760 single base substitution A G missense_variant S401G 1201A>G LICA-CN 19 59059760 59059760 single base substitution A G upstream_gene_variant LICA-CN 19 59059866 59059866 single base substitution A T downstream_gene_variant LICA-CN 19 59059866 59059866 single base substitution A T exon_variant LICA-CN 19 59059866 59059866 single base substitution A T synonymous_variant A328A 984A>T LICA-CN 19 59059866 59059866 single base substitution A T synonymous_variant A410A 1230A>T LICA-CN 19 59059866 59059866 single base substitution A T synonymous_variant A43A 129A>T LICA-CN 19 59059866 59059866 single base substitution A T upstream_gene_variant LICA-CN 19 59063102 59063102 single base substitution C A downstream_gene_variant LICA-FR 19 59050472 59050472 single base substitution C A upstream_gene_variant LICA-FR 19 59050500 59050500 single base substitution T C upstream_gene_variant LICA-FR 19 59050628 59050628 single base substitution C T upstream_gene_variant LICA-FR 19 59050727 59050727 single base substitution T G upstream_gene_variant LICA-FR 19 59050965 59050965 single base substitution T C upstream_gene_variant LICA-FR 19 59051518 59051518 single base substitution C T upstream_gene_variant LICA-FR 19 59052361 59052361 single base substitution A C upstream_gene_variant LICA-FR 19 59052456 59052456 single base substitution T C upstream_gene_variant LICA-FR 19 59052509 59052509 single base substitution T A upstream_gene_variant LICA-FR 19 59052595 59052595 single base substitution A C upstream_gene_variant LICA-FR 19 59055161 59055161 single base substitution G C upstream_gene_variant LICA-FR 19 59057207 59057207 single base substitution G C intron_variant LICA-FR 19 59057207 59057207 single base substitution G C missense_variant C177S 530G>C LICA-FR 19 59057207 59057207 single base substitution G C missense_variant C43S 128G>C LICA-FR 19 59057207 59057207 single base substitution G C missense_variant C89S 266G>C LICA-FR 19 59057207 59057207 single base substitution G C upstream_gene_variant LICA-FR 19 59058744 59058744 single base substitution G A downstream_gene_variant LICA-FR 19 59058744 59058744 single base substitution G A exon_variant LICA-FR 19 59058744 59058744 single base substitution G A splice_region_variant LICA-FR 19 59058744 59058744 single base substitution G A upstream_gene_variant LICA-FR 19 59058766 59058766 single base substitution G T downstream_gene_variant LICA-FR 19 59058766 59058766 single base substitution G T exon_variant LICA-FR 19 59058766 59058766 single base substitution G T stop_gained E116* 346G>T LICA-FR 19 59058766 59058766 single base substitution G T stop_gained E122* 364G>T LICA-FR 19 59058766 59058766 single base substitution G T stop_gained E204* 610G>T LICA-FR 19 59058766 59058766 single base substitution G T stop_gained E70* 208G>T LICA-FR 19 59058766 59058766 single base substitution G T upstream_gene_variant LICA-FR 19 59059451 59059451 single base substitution G T downstream_gene_variant LICA-FR 19 59059451 59059451 single base substitution G T exon_variant LICA-FR 19 59059451 59059451 single base substitution G T missense_variant M253I 759G>T LICA-FR 19 59059451 59059451 single base substitution G T missense_variant M335I 1005G>T LICA-FR 19 59059451 59059451 single base substitution G T upstream_gene_variant LICA-FR 19 59066075 59066075 single base substitution A C downstream_gene_variant LIHC-US 19 59057222 59057222 single base substitution A G intron_variant LIHC-US 19 59057222 59057222 single base substitution A G missense_variant Q182R 545A>G LIHC-US 19 59057222 59057222 single base substitution A G missense_variant Q48R 143A>G LIHC-US 19 59057222 59057222 single base substitution A G missense_variant Q94R 281A>G LIHC-US 19 59057222 59057222 single base substitution A G upstream_gene_variant LIHC-US 19 59059680 59059680 single base substitution G A downstream_gene_variant LIHC-US 19 59059680 59059680 single base substitution G A exon_variant LIHC-US 19 59059680 59059680 single base substitution G A missense_variant R292Q 875G>A LIHC-US 19 59059680 59059680 single base substitution G A missense_variant R374Q 1121G>A LIHC-US 19 59059680 59059680 single base substitution G A missense_variant R7Q 20G>A LIHC-US 19 59059680 59059680 single base substitution G A upstream_gene_variant LIHC-US 19 59061183 59061183 single base substitution G T downstream_gene_variant LIHC-US 19 59061183 59061183 single base substitution G T exon_variant LIHC-US 19 59061183 59061183 single base substitution G T missense_variant D313Y 937G>T LIHC-US 19 59061183 59061183 single base substitution G T missense_variant D606Y 1816G>T LIHC-US 19 59061183 59061183 single base substitution G T missense_variant D688Y 2062G>T LIHC-US 19 59063031 59063031 single base substitution G T downstream_gene_variant LINC-JP 19 59056785 59056785 single base substitution C T 5_prime_UTR_variant LINC-JP 19 59056785 59056785 single base substitution C T intron_variant LINC-JP 19 59056785 59056785 single base substitution C T splice_region_variant LINC-JP 19 59056785 59056785 single base substitution C T upstream_gene_variant LINC-JP 19 59057433 59057439 deletion of <=200bp TAGTCTC - downstream_gene_variant LINC-JP 19 59057433 59057439 deletion of <=200bp TAGTCTC - intron_variant LINC-JP 19 59057433 59057439 deletion of <=200bp TAGTCTC - upstream_gene_variant LINC-JP 19 59058671 59058671 single base substitution C T downstream_gene_variant LINC-JP 19 59058671 59058671 single base substitution C T exon_variant LINC-JP 19 59058671 59058671 single base substitution C T intron_variant LINC-JP 19 59058671 59058671 single base substitution C T upstream_gene_variant LINC-JP 19 59061086 59061086 deletion of <=200bp T - downstream_gene_variant LINC-JP 19 59061086 59061086 deletion of <=200bp T - exon_variant LINC-JP 19 59061086 59061086 deletion of <=200bp T - intron_variant LINC-JP 19 59061189 59061189 insertion of <=200bp - ACTGGCG downstream_gene_variant LINC-JP 19 59061189 59061189 insertion of <=200bp - ACTGGCG exon_variant LINC-JP 19 59061189 59061189 insertion of <=200bp - ACTGGCG frameshift_variant T315TGD? LINC-JP 19 59061189 59061189 insertion of <=200bp - ACTGGCG frameshift_variant T608TGD? LINC-JP 19 59061189 59061189 insertion of <=200bp - ACTGGCG frameshift_variant T690TGD? LIRI-JP 19 59057435 59057435 single base substitution G A downstream_gene_variant LIRI-JP 19 59057435 59057435 single base substitution G A intron_variant LIRI-JP 19 59057435 59057435 single base substitution G A upstream_gene_variant LIRI-JP 19 59057624 59057624 single base substitution A G downstream_gene_variant LIRI-JP 19 59057624 59057624 single base substitution A G intron_variant LIRI-JP 19 59057624 59057624 single base substitution A G upstream_gene_variant LIRI-JP 19 59059495 59059495 single base substitution C G downstream_gene_variant LIRI-JP 19 59059495 59059495 single base substitution C G exon_variant LIRI-JP 19 59059495 59059495 single base substitution C G missense_variant S268C 803C>G LIRI-JP 19 59059495 59059495 single base substitution C G missense_variant S350C 1049C>G LIRI-JP 19 59059495 59059495 single base substitution C G upstream_gene_variant LIRI-JP 19 59061517 59061517 single base substitution C G downstream_gene_variant LIRI-JP 19 59061517 59061517 single base substitution C G exon_variant LIRI-JP 19 59061517 59061517 single base substitution C G missense_variant Q358E 1072C>G LIRI-JP 19 59061517 59061517 single base substitution C G missense_variant Q651E 1951C>G LIRI-JP 19 59061517 59061517 single base substitution C G missense_variant Q733E 2197C>G LIRI-JP 19 59062220 59062231 deletion of <=200bp GATGCCTAGGGA - downstream_gene_variant LIRI-JP 19 59062427 59062427 single base substitution T C downstream_gene_variant LIRI-JP 19 59063621 59063621 single base substitution C T downstream_gene_variant LUSC-KR 19 59050550 59050550 single base substitution C A upstream_gene_variant LUSC-KR 19 59050621 59050621 single base substitution A C upstream_gene_variant LUSC-KR 19 59050628 59050628 single base substitution C T upstream_gene_variant LUSC-KR 19 59050774 59050774 single base substitution A C upstream_gene_variant LUSC-KR 19 59050779 59050779 single base substitution C G upstream_gene_variant LUSC-KR 19 59051166 59051166 single base substitution G C upstream_gene_variant LUSC-KR 19 59051432 59051432 single base substitution C A upstream_gene_variant LUSC-KR 19 59051584 59051584 single base substitution T C upstream_gene_variant LUSC-KR 19 59051632 59051632 single base substitution C G upstream_gene_variant LUSC-KR 19 59051666 59051666 single base substitution A C upstream_gene_variant LUSC-KR 19 59051671 59051671 single base substitution G C upstream_gene_variant LUSC-KR 19 59051975 59051975 single base substitution C G upstream_gene_variant LUSC-KR 19 59052191 59052191 single base substitution G A upstream_gene_variant LUSC-KR 19 59052496 59052496 single base substitution T A upstream_gene_variant LUSC-KR 19 59052760 59052760 single base substitution G A upstream_gene_variant LUSC-KR 19 59052979 59052979 single base substitution T C upstream_gene_variant LUSC-KR 19 59053057 59053057 single base substitution C T upstream_gene_variant LUSC-KR 19 59053487 59053487 single base substitution G C upstream_gene_variant LUSC-KR 19 59053800 59053800 single base substitution G C upstream_gene_variant LUSC-KR 19 59053878 59053878 single base substitution C A upstream_gene_variant LUSC-KR 19 59053942 59053942 single base substitution C T upstream_gene_variant LUSC-KR 19 59053950 59053950 single base substitution T A upstream_gene_variant LUSC-KR 19 59053973 59053973 single base substitution G A upstream_gene_variant LUSC-KR 19 59054112 59054112 single base substitution G C upstream_gene_variant LUSC-KR 19 59055404 59055404 single base substitution C T upstream_gene_variant LUSC-KR 19 59058108 59058108 single base substitution C G downstream_gene_variant LUSC-KR 19 59058108 59058108 single base substitution C G intron_variant LUSC-KR 19 59058108 59058108 single base substitution C G upstream_gene_variant LUSC-KR 19 59059493 59059493 single base substitution C T downstream_gene_variant LUSC-KR 19 59059493 59059493 single base substitution C T exon_variant LUSC-KR 19 59059493 59059493 single base substitution C T synonymous_variant A267A 801C>T LUSC-KR 19 59059493 59059493 single base substitution C T synonymous_variant A349A 1047C>T LUSC-KR 19 59059493 59059493 single base substitution C T upstream_gene_variant LUSC-KR 19 59065276 59065276 single base substitution A C downstream_gene_variant LUSC-US 19 59061390 59061390 single base substitution C T downstream_gene_variant LUSC-US 19 59061390 59061390 single base substitution C T exon_variant LUSC-US 19 59061390 59061390 single base substitution C T synonymous_variant S352S 1056C>T LUSC-US 19 59061390 59061390 single base substitution C T synonymous_variant S645S 1935C>T LUSC-US 19 59061390 59061390 single base substitution C T synonymous_variant S727S 2181C>T LUSC-US 19 59063771 59063771 single base substitution C T downstream_gene_variant MALY-DE 19 59054299 59054304 deletion of <=200bp GTTGAG - upstream_gene_variant MALY-DE 19 59054514 59054514 single base substitution C T upstream_gene_variant MALY-DE 19 59056375 59056375 single base substitution T A 5_prime_UTR_variant MALY-DE 19 59056375 59056375 single base substitution T A intron_variant MALY-DE 19 59056375 59056375 single base substitution T A stop_gained L84* 251T>A MALY-DE 19 59056375 59056375 single base substitution T A upstream_gene_variant MALY-DE 19 59056466 59056466 single base substitution T G intron_variant MALY-DE 19 59056466 59056466 single base substitution T G splice_donor_variant MALY-DE 19 59056466 59056466 single base substitution T G upstream_gene_variant MALY-DE 19 59059169 59059169 single base substitution G A downstream_gene_variant MALY-DE 19 59059169 59059169 single base substitution G A exon_variant MALY-DE 19 59059169 59059169 single base substitution G A missense_variant V150M 448G>A MALY-DE 19 59059169 59059169 single base substitution G A missense_variant V202M 604G>A MALY-DE 19 59059169 59059169 single base substitution G A missense_variant V284M 850G>A MALY-DE 19 59059169 59059169 single base substitution G A splice_region_variant MALY-DE 19 59059169 59059169 single base substitution G A upstream_gene_variant MALY-DE 19 59062569 59062569 single base substitution G A downstream_gene_variant MALY-DE 19 59062809 59062809 single base substitution C T downstream_gene_variant MALY-DE 19 59064681 59064681 single base substitution G A downstream_gene_variant MELA-AU 19 59050567 59050567 single base substitution G A upstream_gene_variant MELA-AU 19 59050846 59050846 single base substitution C T upstream_gene_variant MELA-AU 19 59051177 59051177 single base substitution C T upstream_gene_variant MELA-AU 19 59051254 59051254 single base substitution C T upstream_gene_variant MELA-AU 19 59051817 59051818 multiple base substitution (>=2bp and <=200bp) CC TT upstream_gene_variant MELA-AU 19 59051833 59051833 single base substitution C T upstream_gene_variant MELA-AU 19 59051872 59051872 single base substitution C T upstream_gene_variant MELA-AU 19 59052085 59052085 single base substitution T C upstream_gene_variant MELA-AU 19 59053279 59053280 multiple base substitution (>=2bp and <=200bp) GG AA upstream_gene_variant MELA-AU 19 59053771 59053771 single base substitution C T upstream_gene_variant MELA-AU 19 59053775 59053775 single base substitution C T upstream_gene_variant MELA-AU 19 59054228 59054229 multiple base substitution (>=2bp and <=200bp) CC TT upstream_gene_variant MELA-AU 19 59055235 59055235 single base substitution T G upstream_gene_variant MELA-AU 19 59055357 59055357 single base substitution C T upstream_gene_variant MELA-AU 19 59055379 59055379 single base substitution G A upstream_gene_variant MELA-AU 19 59055630 59055630 single base substitution C T intron_variant MELA-AU 19 59055630 59055630 single base substitution C T upstream_gene_variant MELA-AU 19 59055631 59055631 single base substitution C T intron_variant MELA-AU 19 59055631 59055631 single base substitution C T upstream_gene_variant MELA-AU 19 59055635 59055635 single base substitution C T intron_variant MELA-AU 19 59055635 59055635 single base substitution C T upstream_gene_variant MELA-AU 19 59056718 59056718 single base substitution C T 5_prime_UTR_variant MELA-AU 19 59056718 59056718 single base substitution C T intron_variant MELA-AU 19 59056718 59056718 single base substitution C T upstream_gene_variant MELA-AU 19 59057055 59057055 single base substitution C T intron_variant MELA-AU 19 59057055 59057055 single base substitution C T upstream_gene_variant MELA-AU 19 59057188 59057188 single base substitution G A intron_variant MELA-AU 19 59057188 59057188 single base substitution G A missense_variant E171K 511G>A MELA-AU 19 59057188 59057188 single base substitution G A missense_variant E37K 109G>A MELA-AU 19 59057188 59057188 single base substitution G A missense_variant E83K 247G>A MELA-AU 19 59057188 59057188 single base substitution G A upstream_gene_variant MELA-AU 19 59058157 59058157 single base substitution G A downstream_gene_variant MELA-AU 19 59058157 59058157 single base substitution G A intron_variant MELA-AU 19 59058157 59058157 single base substitution G A upstream_gene_variant MELA-AU 19 59059687 59059687 single base substitution C T downstream_gene_variant MELA-AU 19 59059687 59059687 single base substitution C T exon_variant MELA-AU 19 59059687 59059687 single base substitution C T synonymous_variant L294L 882C>T MELA-AU 19 59059687 59059687 single base substitution C T synonymous_variant L376L 1128C>T MELA-AU 19 59059687 59059687 single base substitution C T synonymous_variant L9L 27C>T MELA-AU 19 59059687 59059687 single base substitution C T upstream_gene_variant MELA-AU 19 59059896 59059896 single base substitution T G downstream_gene_variant MELA-AU 19 59059896 59059896 single base substitution T G exon_variant MELA-AU 19 59059896 59059896 single base substitution T G synonymous_variant P338P 1014T>G MELA-AU 19 59059896 59059896 single base substitution T G synonymous_variant P420P 1260T>G MELA-AU 19 59059896 59059896 single base substitution T G synonymous_variant P53P 159T>G MELA-AU 19 59059896 59059896 single base substitution T G upstream_gene_variant MELA-AU 19 59060247 59060247 single base substitution G A downstream_gene_variant MELA-AU 19 59060247 59060247 single base substitution G A exon_variant MELA-AU 19 59060247 59060247 single base substitution G A missense_variant S378N 1133G>A MELA-AU 19 59060247 59060247 single base substitution G A missense_variant S460N 1379G>A MELA-AU 19 59060247 59060247 single base substitution G A splice_region_variant MELA-AU 19 59060247 59060247 single base substitution G A upstream_gene_variant MELA-AU 19 59061774 59061774 single base substitution C T downstream_gene_variant MELA-AU 19 59061774 59061774 single base substitution C T exon_variant MELA-AU 19 59061774 59061774 single base substitution C T synonymous_variant L413L 1237C>T MELA-AU 19 59061774 59061774 single base substitution C T synonymous_variant L706L 2116C>T MELA-AU 19 59061774 59061774 single base substitution C T synonymous_variant L788L 2362C>T MELA-AU 19 59062413 59062413 single base substitution T A downstream_gene_variant MELA-AU 19 59062416 59062416 single base substitution G T downstream_gene_variant MELA-AU 19 59062699 59062699 single base substitution C T downstream_gene_variant MELA-AU 19 59062700 59062700 single base substitution C A downstream_gene_variant MELA-AU 19 59063263 59063263 single base substitution G T downstream_gene_variant MELA-AU 19 59066080 59066080 single base substitution G A downstream_gene_variant MELA-AU 19 59066466 59066466 single base substitution C T downstream_gene_variant MELA-AU 19 59066511 59066511 single base substitution G A downstream_gene_variant MELA-AU 19 59066511 59066512 multiple base substitution (>=2bp and <=200bp) GG AA downstream_gene_variant MELA-AU 19 59066512 59066512 single base substitution G A downstream_gene_variant MELA-AU 19 59066945 59066945 single base substitution C A downstream_gene_variant ORCA-IN 19 59052085 59052085 single base substitution T C upstream_gene_variant ORCA-IN 19 59059054 59059054 single base substitution G C downstream_gene_variant ORCA-IN 19 59059054 59059054 single base substitution G C exon_variant ORCA-IN 19 59059054 59059054 single base substitution G C missense_variant Q137H 411G>C ORCA-IN 19 59059054 59059054 single base substitution G C missense_variant Q189H 567G>C ORCA-IN 19 59059054 59059054 single base substitution G C missense_variant Q271H 813G>C ORCA-IN 19 59059054 59059054 single base substitution G C upstream_gene_variant ORCA-IN 19 59065453 59065453 single base substitution T C downstream_gene_variant OV-AU 19 59050923 59050923 single base substitution G T upstream_gene_variant OV-AU 19 59051048 59051048 single base substitution C T upstream_gene_variant OV-AU 19 59052910 59052910 single base substitution C G upstream_gene_variant OV-AU 19 59054051 59054051 single base substitution A G upstream_gene_variant OV-AU 19 59054286 59054286 single base substitution G T upstream_gene_variant OV-AU 19 59058142 59058142 single base substitution G T downstream_gene_variant OV-AU 19 59058142 59058142 single base substitution G T intron_variant OV-AU 19 59058142 59058142 single base substitution G T upstream_gene_variant OV-AU 19 59061759 59061759 single base substitution C T downstream_gene_variant OV-AU 19 59061759 59061759 single base substitution C T exon_variant OV-AU 19 59061759 59061759 single base substitution C T stop_gained Q408* 1222C>T OV-AU 19 59061759 59061759 single base substitution C T stop_gained Q701* 2101C>T OV-AU 19 59061759 59061759 single base substitution C T stop_gained Q783* 2347C>T OV-AU 19 59064330 59064330 single base substitution C G downstream_gene_variant PACA-AU 19 59053211 59053211 single base substitution C T upstream_gene_variant PACA-AU 19 59055823 59055823 single base substitution C T intron_variant PACA-AU 19 59055823 59055823 single base substitution C T upstream_gene_variant PACA-AU 19 59059706 59059706 single base substitution G A downstream_gene_variant PACA-AU 19 59059706 59059706 single base substitution G A exon_variant PACA-AU 19 59059706 59059706 single base substitution G A missense_variant V16M 46G>A PACA-AU 19 59059706 59059706 single base substitution G A missense_variant V301M 901G>A PACA-AU 19 59059706 59059706 single base substitution G A missense_variant V383M 1147G>A PACA-AU 19 59059706 59059706 single base substitution G A upstream_gene_variant PACA-AU 19 59062437 59062437 single base substitution C T downstream_gene_variant PACA-AU 19 59064356 59064356 single base substitution C T downstream_gene_variant PACA-AU 19 59065595 59065595 single base substitution C T downstream_gene_variant PACA-CA 19 59050581 59050581 single base substitution C T upstream_gene_variant PACA-CA 19 59050699 59050699 single base substitution A C upstream_gene_variant PACA-CA 19 59051006 59051006 single base substitution C T upstream_gene_variant PACA-CA 19 59051906 59051906 single base substitution T A upstream_gene_variant PACA-CA 19 59052439 59052439 single base substitution A C upstream_gene_variant PACA-CA 19 59055861 59055861 single base substitution G A 5_prime_UTR_premature_start_codon_gain_variant PACA-CA 19 59055861 59055861 single base substitution G A intron_variant PACA-CA 19 59055861 59055861 single base substitution G A upstream_gene_variant PACA-CA 19 59057906 59057906 single base substitution A G downstream_gene_variant PACA-CA 19 59057906 59057906 single base substitution A G intron_variant PACA-CA 19 59057906 59057906 single base substitution A G upstream_gene_variant PACA-CA 19 59058595 59058595 single base substitution G A downstream_gene_variant PACA-CA 19 59058595 59058595 single base substitution G A exon_variant PACA-CA 19 59058595 59058595 single base substitution G A intron_variant PACA-CA 19 59058595 59058595 single base substitution G A upstream_gene_variant PACA-CA 19 59063621 59063621 single base substitution C T downstream_gene_variant PACA-CA 19 59064083 59064083 single base substitution A C downstream_gene_variant PACA-CA 19 59065145 59065145 single base substitution T C downstream_gene_variant PAEN-AU 19 59051249 59051249 single base substitution A C upstream_gene_variant PAEN-AU 19 59051998 59051998 single base substitution T G upstream_gene_variant PAEN-AU 19 59053648 59053648 single base substitution A C upstream_gene_variant PAEN-IT 19 59055013 59055013 single base substitution T C upstream_gene_variant PBCA-DE 19 59050754 59050754 insertion of <=200bp - CCT upstream_gene_variant PBCA-DE 19 59051711 59051711 insertion of <=200bp - AT upstream_gene_variant PBCA-DE 19 59052802 59052804 deletion of <=200bp CCT - upstream_gene_variant PBCA-DE 19 59053096 59053096 single base substitution C G upstream_gene_variant PBCA-DE 19 59053950 59053950 single base substitution T A upstream_gene_variant PRAD-CA 19 59065063 59065063 single base substitution C T downstream_gene_variant PRAD-UK 19 59052424 59052424 single base substitution G C upstream_gene_variant PRAD-UK 19 59053572 59053572 single base substitution C T upstream_gene_variant PRAD-UK 19 59054070 59054070 single base substitution C G upstream_gene_variant PRAD-UK 19 59058038 59058038 single base substitution C A downstream_gene_variant PRAD-UK 19 59058038 59058038 single base substitution C A intron_variant PRAD-UK 19 59058038 59058038 single base substitution C A upstream_gene_variant PRAD-UK 19 59058039 59058039 single base substitution C A downstream_gene_variant PRAD-UK 19 59058039 59058039 single base substitution C A intron_variant PRAD-UK 19 59058039 59058039 single base substitution C A upstream_gene_variant PRAD-US 19 59059687 59059687 single base substitution C G downstream_gene_variant PRAD-US 19 59059687 59059687 single base substitution C G exon_variant PRAD-US 19 59059687 59059687 single base substitution C G synonymous_variant L294L 882C>G PRAD-US 19 59059687 59059687 single base substitution C G synonymous_variant L376L 1128C>G PRAD-US 19 59059687 59059687 single base substitution C G synonymous_variant L9L 27C>G PRAD-US 19 59059687 59059687 single base substitution C G upstream_gene_variant READ-US 19 59060556 59060556 single base substitution G A downstream_gene_variant READ-US 19 59060556 59060556 single base substitution G A exon_variant READ-US 19 59060556 59060556 single base substitution G A synonymous_variant A162A 486G>A READ-US 19 59060556 59060556 single base substitution G A synonymous_variant A455A 1365G>A READ-US 19 59060556 59060556 single base substitution G A synonymous_variant A537A 1611G>A READ-US 19 59060556 59060556 single base substitution G A upstream_gene_variant READ-US 19 59061352 59061352 single base substitution G A downstream_gene_variant READ-US 19 59061352 59061352 single base substitution G A exon_variant READ-US 19 59061352 59061352 single base substitution G A missense_variant E340K 1018G>A READ-US 19 59061352 59061352 single base substitution G A missense_variant E633K 1897G>A READ-US 19 59061352 59061352 single base substitution G A missense_variant E715K 2143G>A SKCA-BR 19 59050500 59050500 single base substitution T C upstream_gene_variant SKCA-BR 19 59050543 59050543 single base substitution A C upstream_gene_variant SKCA-BR 19 59050818 59050818 single base substitution G C upstream_gene_variant SKCA-BR 19 59050967 59050967 single base substitution T C upstream_gene_variant SKCA-BR 19 59051116 59051116 single base substitution T C upstream_gene_variant SKCA-BR 19 59053950 59053950 single base substitution T A upstream_gene_variant SKCA-BR 19 59055587 59055587 single base substitution A C intron_variant SKCA-BR 19 59055587 59055587 single base substitution A C upstream_gene_variant SKCA-BR 19 59066731 59066731 single base substitution G C downstream_gene_variant SKCM-US 19 59058766 59058766 single base substitution G A downstream_gene_variant SKCM-US 19 59058766 59058766 single base substitution G A exon_variant SKCM-US 19 59058766 59058766 single base substitution G A missense_variant E116K 346G>A SKCM-US 19 59058766 59058766 single base substitution G A missense_variant E122K 364G>A SKCM-US 19 59058766 59058766 single base substitution G A missense_variant E204K 610G>A SKCM-US 19 59058766 59058766 single base substitution G A missense_variant E70K 208G>A SKCM-US 19 59058766 59058766 single base substitution G A upstream_gene_variant SKCM-US 19 59059032 59059032 single base substitution G A downstream_gene_variant SKCM-US 19 59059032 59059032 single base substitution G A exon_variant SKCM-US 19 59059032 59059032 single base substitution G A missense_variant G130E 389G>A SKCM-US 19 59059032 59059032 single base substitution G A missense_variant G182E 545G>A SKCM-US 19 59059032 59059032 single base substitution G A missense_variant G264E 791G>A SKCM-US 19 59059032 59059032 single base substitution G A upstream_gene_variant SKCM-US 19 59059687 59059687 single base substitution C T downstream_gene_variant SKCM-US 19 59059687 59059687 single base substitution C T exon_variant SKCM-US 19 59059687 59059687 single base substitution C T synonymous_variant L294L 882C>T SKCM-US 19 59059687 59059687 single base substitution C T synonymous_variant L376L 1128C>T SKCM-US 19 59059687 59059687 single base substitution C T synonymous_variant L9L 27C>T SKCM-US 19 59059687 59059687 single base substitution C T upstream_gene_variant SKCM-US 19 59059887 59059887 single base substitution A C downstream_gene_variant SKCM-US 19 59059887 59059887 single base substitution A C exon_variant SKCM-US 19 59059887 59059887 single base substitution A C synonymous_variant S335S 1005A>C SKCM-US 19 59059887 59059887 single base substitution A C synonymous_variant S417S 1251A>C SKCM-US 19 59059887 59059887 single base substitution A C synonymous_variant S50S 150A>C SKCM-US 19 59059887 59059887 single base substitution A C upstream_gene_variant SKCM-US 19 59060419 59060419 single base substitution C T downstream_gene_variant SKCM-US 19 59060419 59060419 single base substitution C T exon_variant SKCM-US 19 59060419 59060419 single base substitution C T missense_variant R117C 349C>T SKCM-US 19 59060419 59060419 single base substitution C T missense_variant R410C 1228C>T SKCM-US 19 59060419 59060419 single base substitution C T missense_variant R492C 1474C>T SKCM-US 19 59060419 59060419 single base substitution C T upstream_gene_variant SKCM-US 19 59060795 59060795 single base substitution C T downstream_gene_variant SKCM-US 19 59060795 59060795 single base substitution C T exon_variant SKCM-US 19 59060795 59060795 single base substitution C T missense_variant A212V 635C>T SKCM-US 19 59060795 59060795 single base substitution C T missense_variant A505V 1514C>T SKCM-US 19 59060795 59060795 single base substitution C T missense_variant A587V 1760C>T SKCM-US 19 59060795 59060795 single base substitution C T upstream_gene_variant SKCM-US 19 59060877 59060877 single base substitution A G downstream_gene_variant SKCM-US 19 59060877 59060877 single base substitution A G exon_variant SKCM-US 19 59060877 59060877 single base substitution A G synonymous_variant P239P 717A>G SKCM-US 19 59060877 59060877 single base substitution A G synonymous_variant P532P 1596A>G SKCM-US 19 59060877 59060877 single base substitution A G synonymous_variant P614P 1842A>G SKCM-US 19 59060877 59060877 single base substitution A G upstream_gene_variant SKCM-US 19 59061522 59061522 single base substitution C T downstream_gene_variant SKCM-US 19 59061522 59061522 single base substitution C T exon_variant SKCM-US 19 59061522 59061522 single base substitution C T synonymous_variant P359P 1077C>T SKCM-US 19 59061522 59061522 single base substitution C T synonymous_variant P652P 1956C>T SKCM-US 19 59061522 59061522 single base substitution C T synonymous_variant P734P 2202C>T STAD-US 19 59056411 59056411 deletion of <=200bp C - 5_prime_UTR_variant STAD-US 19 59056411 59056411 deletion of <=200bp C - frameshift_variant A96 STAD-US 19 59056411 59056411 deletion of <=200bp C - intron_variant STAD-US 19 59056411 59056411 deletion of <=200bp C - upstream_gene_variant STAD-US 19 59057202 59057202 single base substitution G A intron_variant STAD-US 19 59057202 59057202 single base substitution G A synonymous_variant E175E 525G>A STAD-US 19 59057202 59057202 single base substitution G A synonymous_variant E41E 123G>A STAD-US 19 59057202 59057202 single base substitution G A synonymous_variant E87E 261G>A STAD-US 19 59057202 59057202 single base substitution G A upstream_gene_variant STAD-US 19 59058826 59058826 single base substitution T C downstream_gene_variant STAD-US 19 59058826 59058826 single base substitution T C exon_variant STAD-US 19 59058826 59058826 single base substitution T C missense_variant C136R 406T>C STAD-US 19 59058826 59058826 single base substitution T C missense_variant C142R 424T>C STAD-US 19 59058826 59058826 single base substitution T C missense_variant C224R 670T>C STAD-US 19 59058826 59058826 single base substitution T C missense_variant C90R 268T>C STAD-US 19 59058826 59058826 single base substitution T C upstream_gene_variant STAD-US 19 59059182 59059182 single base substitution A G downstream_gene_variant STAD-US 19 59059182 59059182 single base substitution A G exon_variant STAD-US 19 59059182 59059182 single base substitution A G missense_variant Q154R 461A>G STAD-US 19 59059182 59059182 single base substitution A G missense_variant Q206R 617A>G STAD-US 19 59059182 59059182 single base substitution A G missense_variant Q288R 863A>G STAD-US 19 59059182 59059182 single base substitution A G upstream_gene_variant STAD-US 19 59059476 59059476 single base substitution C T downstream_gene_variant STAD-US 19 59059476 59059476 single base substitution C T exon_variant STAD-US 19 59059476 59059476 single base substitution C T missense_variant H262Y 784C>T STAD-US 19 59059476 59059476 single base substitution C T missense_variant H344Y 1030C>T STAD-US 19 59059476 59059476 single base substitution C T upstream_gene_variant STAD-US 19 59060528 59060528 single base substitution C A downstream_gene_variant STAD-US 19 59060528 59060528 single base substitution C A exon_variant STAD-US 19 59060528 59060528 single base substitution C A missense_variant A153D 458C>A STAD-US 19 59060528 59060528 single base substitution C A missense_variant A446D 1337C>A STAD-US 19 59060528 59060528 single base substitution C A missense_variant A528D 1583C>A STAD-US 19 59060528 59060528 single base substitution C A upstream_gene_variant STAD-US 19 59060698 59060698 single base substitution G C downstream_gene_variant STAD-US 19 59060698 59060698 single base substitution G C missense_variant E180Q 538G>C STAD-US 19 59060698 59060698 single base substitution G C missense_variant E473Q 1417G>C STAD-US 19 59060698 59060698 single base substitution G C missense_variant E555Q 1663G>C STAD-US 19 59060698 59060698 single base substitution G C splice_region_variant STAD-US 19 59060698 59060698 single base substitution G C upstream_gene_variant STAD-US 19 59060921 59060921 single base substitution G A downstream_gene_variant STAD-US 19 59060921 59060921 single base substitution G A exon_variant STAD-US 19 59060921 59060921 single base substitution G A missense_variant R254H 761G>A STAD-US 19 59060921 59060921 single base substitution G A missense_variant R547H 1640G>A STAD-US 19 59060921 59060921 single base substitution G A missense_variant R629H 1886G>A STAD-US 19 59060921 59060921 single base substitution G A upstream_gene_variant STAD-US 19 59061206 59061206 single base substitution G T downstream_gene_variant STAD-US 19 59061206 59061206 single base substitution G T exon_variant STAD-US 19 59061206 59061206 single base substitution G T missense_variant K320N 960G>T STAD-US 19 59061206 59061206 single base substitution G T missense_variant K613N 1839G>T STAD-US 19 59061206 59061206 single base substitution G T missense_variant K695N 2085G>T STAD-US 19 59061548 59061548 single base substitution T C downstream_gene_variant STAD-US 19 59061548 59061548 single base substitution T C exon_variant STAD-US 19 59061548 59061548 single base substitution T C missense_variant I368T 1103T>C STAD-US 19 59061548 59061548 single base substitution T C missense_variant I661T 1982T>C STAD-US 19 59061548 59061548 single base substitution T C missense_variant I743T 2228T>C STAD-US 19 59065483 59065483 single base substitution G A downstream_gene_variant THCA-SA 19 59056236 59056236 single base substitution G T intron_variant THCA-SA 19 59056236 59056236 single base substitution G T missense_variant A38S 112G>T THCA-SA 19 59056236 59056236 single base substitution G T upstream_gene_variant THCA-US 19 59056853 59056853 single base substitution C A 5_prime_UTR_variant THCA-US 19 59056853 59056853 single base substitution C A intron_variant THCA-US 19 59056853 59056853 single base substitution C A missense_variant F134L 402C>A THCA-US 19 59056853 59056853 single base substitution C A missense_variant F46L 138C>A THCA-US 19 59056853 59056853 single base substitution C A upstream_gene_variant UCEC-US 19 59056833 59056833 single base substitution G T 5_prime_UTR_variant UCEC-US 19 59056833 59056833 single base substitution G T intron_variant UCEC-US 19 59056833 59056833 single base substitution G T missense_variant D128Y 382G>T UCEC-US 19 59056833 59056833 single base substitution G T missense_variant D40Y 118G>T UCEC-US 19 59056833 59056833 single base substitution G T upstream_gene_variant UCEC-US 19 59056844 59056844 single base substitution G A 5_prime_UTR_variant UCEC-US 19 59056844 59056844 single base substitution G A intron_variant UCEC-US 19 59056844 59056844 single base substitution G A synonymous_variant E131E 393G>A UCEC-US 19 59056844 59056844 single base substitution G A synonymous_variant E43E 129G>A UCEC-US 19 59056844 59056844 single base substitution G A upstream_gene_variant UCEC-US 19 59056844 59056844 single base substitution G T 5_prime_UTR_variant UCEC-US 19 59056844 59056844 single base substitution G T intron_variant UCEC-US 19 59056844 59056844 single base substitution G T missense_variant E131D 393G>T UCEC-US 19 59056844 59056844 single base substitution G T missense_variant E43D 129G>T UCEC-US 19 59056844 59056844 single base substitution G T upstream_gene_variant UCEC-US 19 59058829 59058829 single base substitution G A downstream_gene_variant UCEC-US 19 59058829 59058829 single base substitution G A exon_variant UCEC-US 19 59058829 59058829 single base substitution G A missense_variant D137N 409G>A UCEC-US 19 59058829 59058829 single base substitution G A missense_variant D143N 427G>A UCEC-US 19 59058829 59058829 single base substitution G A missense_variant D225N 673G>A UCEC-US 19 59058829 59058829 single base substitution G A missense_variant D91N 271G>A UCEC-US 19 59058829 59058829 single base substitution G A upstream_gene_variant UCEC-US 19 59059208 59059208 single base substitution A G downstream_gene_variant UCEC-US 19 59059208 59059208 single base substitution A G exon_variant UCEC-US 19 59059208 59059208 single base substitution A G missense_variant M163V 487A>G UCEC-US 19 59059208 59059208 single base substitution A G missense_variant M215V 643A>G UCEC-US 19 59059208 59059208 single base substitution A G missense_variant M297V 889A>G UCEC-US 19 59059208 59059208 single base substitution A G upstream_gene_variant UCEC-US 19 59059218 59059218 single base substitution T A downstream_gene_variant UCEC-US 19 59059218 59059218 single base substitution T A exon_variant UCEC-US 19 59059218 59059218 single base substitution T A missense_variant L166Q 497T>A UCEC-US 19 59059218 59059218 single base substitution T A missense_variant L218Q 653T>A UCEC-US 19 59059218 59059218 single base substitution T A missense_variant L300Q 899T>A UCEC-US 19 59059218 59059218 single base substitution T A upstream_gene_variant UCEC-US 19 59059681 59059681 single base substitution G A downstream_gene_variant UCEC-US 19 59059681 59059681 single base substitution G A exon_variant UCEC-US 19 59059681 59059681 single base substitution G A synonymous_variant R292R 876G>A UCEC-US 19 59059681 59059681 single base substitution G A synonymous_variant R374R 1122G>A UCEC-US 19 59059681 59059681 single base substitution G A synonymous_variant R7R 21G>A UCEC-US 19 59059681 59059681 single base substitution G A upstream_gene_variant UCEC-US 19 59059706 59059706 single base substitution G A downstream_gene_variant UCEC-US 19 59059706 59059706 single base substitution G A exon_variant UCEC-US 19 59059706 59059706 single base substitution G A missense_variant V16M 46G>A UCEC-US 19 59059706 59059706 single base substitution G A missense_variant V301M 901G>A UCEC-US 19 59059706 59059706 single base substitution G A missense_variant V383M 1147G>A UCEC-US 19 59059706 59059706 single base substitution G A upstream_gene_variant UCEC-US 19 59060514 59060514 single base substitution A G downstream_gene_variant UCEC-US 19 59060514 59060514 single base substitution A G exon_variant UCEC-US 19 59060514 59060514 single base substitution A G synonymous_variant E148E 444A>G UCEC-US 19 59060514 59060514 single base substitution A G synonymous_variant E441E 1323A>G UCEC-US 19 59060514 59060514 single base substitution A G synonymous_variant E523E 1569A>G UCEC-US 19 59060514 59060514 single base substitution A G upstream_gene_variant UCEC-US 19 59060961 59060961 single base substitution G A downstream_gene_variant UCEC-US 19 59060961 59060961 single base substitution G A exon_variant UCEC-US 19 59060961 59060961 single base substitution G A synonymous_variant Q267Q 801G>A UCEC-US 19 59060961 59060961 single base substitution G A synonymous_variant Q560Q 1680G>A UCEC-US 19 59060961 59060961 single base substitution G A synonymous_variant Q642Q 1926G>A UCEC-US 19 59060961 59060961 single base substitution G A upstream_gene_variant UCEC-US 19 59061211 59061211 single base substitution C A downstream_gene_variant UCEC-US 19 59061211 59061211 single base substitution C A exon_variant UCEC-US 19 59061211 59061211 single base substitution C A stop_gained S322* 965C>A UCEC-US 19 59061211 59061211 single base substitution C A stop_gained S615* 1844C>A UCEC-US 19 59061211 59061211 single base substitution C A stop_gained S697* 2090C>A UCEC-US 19 59061329 59061329 single base substitution T C downstream_gene_variant UCEC-US 19 59061329 59061329 single base substitution T C exon_variant UCEC-US 19 59061329 59061329 single base substitution T C missense_variant V332A 995T>C UCEC-US 19 59061329 59061329 single base substitution T C missense_variant V625A 1874T>C UCEC-US 19 59061329 59061329 single base substitution T C missense_variant V707A 2120T>C UCEC-US 19 59063042 59063042 single base substitution G A downstream_gene_variant UCEC-US 19 59063080 59063080 single base substitution G A downstream_gene_variant UCEC-US 19 59063275 59063275 single base substitution G A downstream_gene_variant UCEC-US 19 59063276 59063276 single base substitution A C downstream_gene_variant UCEC-US 19 59063699 59063699 single base substitution G A downstream_gene_variant

Mutation - COSMIC Sample Name Mutation ID Mutation CDS Mutation AA Mutation Description Mutation Genome Position Mutation Strand CSCC-20-T COSM4523160 c.1200G>A p.K400K Substitution - coding silent 19:58548392-58548392 + YUKLAB COSM1713044 c.2153G>A p.R718H Substitution - Missense 19:58549995-58549995 + TCGA-IR-A3LA-01 COSM4845605 c.2046C>T p.L682L Substitution - coding silent 19:58549800-58549800 + TCGA-QB-A6FS-06 COSM3893789 c.791G>A p.G264E Substitution - Missense 19:58547665-58547665 + T3024 COSM4736019 c.2358C>T p.I786I Substitution - coding silent 19:58550403-58550403 + TCGA-BP-4330-01 COSM95402 c.1846G>A p.G616S Substitution - Missense 19:58549514-58549514 + SNUH_G10_S1 COSM3757367 c.1170G>A p.K390K Substitution - coding silent 19:58548362-58548362 + TCGA-39-5019-01 COSM714032 c.2181C>T p.S727S Substitution - coding silent 19:58550023-58550023 + S00829 COSM1190189 c.1325C>T p.P442L Substitution - Missense 19:58548741-58548741 + 67 COSM5744195 c.2381C>T p.T794M Substitution - Missense 19:58550426-58550426 + TCGA-AM-5821-01 COSM3757368 c.2148C>T p.P716P Substitution - coding silent 19:58549990-58549990 + PD11767a COSM5786667 c.1387C>T p.P463S Substitution - Missense 19:58548888-58548888 + TCGA-AP-A054-01 COSM1002779 c.899T>A p.L300Q Substitution - Missense 19:58547851-58547851 + TCGA-HU-A4GX-01 COSM4082475 c.863A>G p.Q288R Substitution - Missense 19:58547815-58547815 + LUAD-S01354 COSM392474 c.2434delC p.P813fs*3 Deletion - Frameshift 19:58550479-58550479 + CHC805T COSM4954279 c.530G>C p.C177S Substitution - Missense 19:58545840-58545840 + SNU-C2B COSM2974760 c.755A>T p.Q252L Substitution - Missense 19:58547629-58547629 + SK01600_M COSM1600242 c.865A>C p.K289Q Substitution - Missense 19:58547817-58547817 + SNU-C2B COSM2974806 c.2237G>A p.R746H Substitution - Missense 19:58550190-58550190 + TCGA-AO-A0J3-01 COSM440562 c.1234C>T p.R412C Substitution - Missense 19:58548503-58548503 + TCGA-D3-A5GU-06 COSM3540825 c.610G>A p.E204K Substitution - Missense 19:58547399-58547399 + TCGA-GM-A2D9-01 COSM3836057 c.2016C>T p.L672L Substitution - coding silent 19:58549770-58549770 + U2940 COSM5622043 c.845G>A p.R282H Substitution - Missense 19:58547797-58547797 + CSCC-31-T COSM4463923 c.1310C>T p.S437F Substitution - Missense 19:58548579-58548579 + B111-Tumor COSM3933225 c.1752T>G p.G584G Substitution - coding silent 19:58549420-58549420 + TCGA-A6-6653-01 COSM1397350 c.1459C>T p.R487* Substitution - Nonsense 19:58549037-58549037 + T3024 COSM4736017 c.1963G>C p.A655P Substitution - Missense 19:58549631-58549631 + TCGA-BR-8589-01 COSM4082473 c.525G>A p.E175E Substitution - coding silent 19:58545835-58545835 + TCGA-E6-A1LZ-01 COSM1002784 c.2090C>A p.S697* Substitution - Nonsense 19:58549844-58549844 + DLD1 COSM4624144 c.990G>A p.R330R Substitution - coding silent 19:58548069-58548069 + CSCC-44-T COSM4527902 c.1498G>C p.D500H Substitution - Missense 19:58549076-58549076 + HCC8T COSM1613012 c.2067_2068insACTGGCG p.V692fs*16 Insertion - Frameshift 19:58549821-58549822 + S02285 COSM5684675 c.100A>C p.T34P Substitution - Missense 19:58544857-58544857 + CSCC-54-T COSM4469298 c.1592C>T p.T531I Substitution - Missense 19:58549170-58549170 + TCGA-EB-A5SH-06 COSM4399810 c.1842A>G p.P614P Substitution - coding silent 19:58549510-58549510 + CHC892T COSM4958951 c.588G>A p.G196G Substitution - coding silent 19:58547377-58547377 + CHC801T COSM4953357 c.610G>T p.E204* Substitution - Nonsense 19:58547399-58547399 + TCGA-GN-A263-01 COSM3540828 c.1760C>T p.A587V Substitution - Missense 19:58549428-58549428 + TCGA-HU-A4H8-01 COSM4082480 c.2228T>C p.I743T Substitution - Missense 19:58550181-58550181 + TCGA-BT-A20J-01 COSM418733 c.1747G>A p.E583K Substitution - Missense 19:58549415-58549415 + ESO-224 COSM1268525 c.426T>G p.A142A Substitution - coding silent 19:58545510-58545510 + T3059 COSM4736016 c.1873G>C p.A625P Substitution - Missense 19:58549541-58549541 + TCGA-D3-A1Q1-06 COSM2974780 c.1474C>T p.R492C Substitution - Missense 19:58549052-58549052 + CHC805T COSM4954279 c.530G>C p.C177S Substitution - Missense 19:58545840-58545840 + Pat_41_B COSM5856994 c.1190C>T p.A397V Substitution - Missense 19:58548382-58548382 + TCGA-AP-A0LM-01 COSM1002775 c.393G>A p.E131E Substitution - coding silent 19:58545477-58545477 + T2225 COSM4736013 c.601C>T p.R201W Substitution - Missense 19:58547390-58547390 + Pat_40_A COSM5856995 c.1333G>A p.V445M Substitution - Missense 19:58548749-58548749 + GC1_T COSM3748700 c.1397C>G p.S466* Substitution - Nonsense 19:58548898-58548898 + LC_C23 COSM1190189 c.1325C>T p.P442L Substitution - Missense 19:58548741-58548741 + UPCI:SCC090 COSM4288486 c.2433G>C p.E811D Substitution - Missense 19:58550478-58550478 + CHC801T COSM4953357 c.610G>T p.E204* Substitution - Nonsense 19:58547399-58547399 + TCGA-EI-6507-01 COSM1564945 c.1611G>A p.A537A Substitution - coding silent 19:58549189-58549189 + 8016470 COSM1002781 c.1147G>A p.V383M Substitution - Missense 19:58548339-58548339 + TCGA-EL-A3N3-01 COSM3371544 c.402C>A p.F134L Substitution - Missense 19:58545486-58545486 + TCGA-BS-A0TE-01 COSM1002777 c.673G>A p.D225N Substitution - Missense 19:58547462-58547462 + TCGA-AA-3833-01 COSM271572 c.2111G>A p.C704Y Substitution - Missense 19:58549953-58549953 + TCGA-A8-A06P-01 COSM440564 c.2229C>T p.I743I Substitution - coding silent 19:58550182-58550182 + TCGA-D1-A16X-01 COSM1002785 c.2120T>C p.V707A Substitution - Missense 19:58549962-58549962 + TCGA-CC-A1HT-01 COSM4928244 c.1121G>A p.R374Q Substitution - Missense 19:58548313-58548313 + HCC014T COSM5814332 c.174G>A p.A58A Substitution - coding silent 19:58544931-58544931 + TCGA-BS-A0UF-01 COSM1002774 c.382G>T p.D128Y Substitution - Missense 19:58545466-58545466 + SNU-C2B COSM4651397 c.1593C>T p.T531T Substitution - coding silent 19:58549171-58549171 + TCGA-AP-A059-01 COSM1002783 c.1926G>A p.Q642Q Substitution - coding silent 19:58549594-58549594 + PAPNNX COSM5005134 c.1448G>A p.R483H Substitution - Missense 19:58549026-58549026 + HOP-62 COSM1681474 c.544C>T p.Q182* Substitution - Nonsense 19:58545854-58545854 + 98580 COSM95400 c.252G>C p.L84F Substitution - Missense 19:58545009-58545009 + CHC1731T COSM4792076 c.1005G>T p.M335I Substitution - Missense 19:58548084-58548084 + 50 COSM5015651 c.2084A>G p.K695R Substitution - Missense 19:58549838-58549838 + TCGA-CG-5721-01 COSM4082476 c.1030C>T p.H344Y Substitution - Missense 19:58548109-58548109 + TCGA-CC-A7IH-01 COSM4923283 c.545A>G p.Q182R Substitution - Missense 19:58545855-58545855 + TCGA-BR-6452-01 COSM4082479 c.2085G>T p.K695N Substitution - Missense 19:58549839-58549839 + PT52 COSM5940955 c.341-5C>T p.? Unknown 19:58545420-58545420 + BD49T COSM5498371 c.1642G>A p.A548T Substitution - Missense 19:58549220-58549220 + TCGA-HU-8602-01 COSM4082474 c.670T>C p.C224R Substitution - Missense 19:58547459-58547459 + TCGA-AM-5820-01 COSM3757367 c.1170G>A p.K390K Substitution - coding silent 19:58548362-58548362 + RK220_C01 COSM3743178 c.1049C>G p.S350C Substitution - Missense 19:58548128-58548128 + TCGA-DA-A1I0-06 COSM3540827 c.1251A>C p.S417S Substitution - coding silent 19:58548520-58548520 + RDES COSM4581532 c.1020G>A p.K340K Substitution - coding silent 19:58548099-58548099 + OSCC-GB_00750111 COSM4891126 c.813G>C p.Q271H Substitution - Missense 19:58547687-58547687 + CR007 COSM4994558 c.424G>A p.A142T Substitution - Missense 19:58545508-58545508 + TCGA-D3-A51R-06 COSM2974803 c.2202C>T p.P734P Substitution - coding silent 19:58550155-58550155 + HRA19 COSM4637832 c.1864G>A p.D622N Substitution - Missense 19:58549532-58549532 + SNU-C2B COSM2974771 c.1205C>T p.A402V Substitution - Missense 19:58548397-58548397 + TCGA-BP-4970-01 COSM475425 c.1329G>A p.M443I Substitution - Missense 19:58548745-58548745 + AOCS-153-1-2 COSM4127971 c.2347C>T p.Q783* Substitution - Nonsense 19:58550392-58550392 + BD16T COSM5494703 c.284C>T p.A95V Substitution - Missense 19:58545041-58545041 + TCGA-EE-A29C-06 COSM3540826 c.1128C>T p.L376L Substitution - coding silent 19:58548320-58548320 + CAL27 COSM4288486 c.2433G>C p.E811D Substitution - Missense 19:58550478-58550478 + 3N48-VS-3T48 COSM4982750 c.1677G>C p.E559D Substitution - Missense 19:58549345-58549345 + TCGA-BH-A0DZ-01 COSM440563 c.1310C>G p.S437C Substitution - Missense 19:58548579-58548579 + TCGA-AP-A051-01 COSM1002781 c.1147G>A p.V383M Substitution - Missense 19:58548339-58548339 + tumor_4144633 COSM5947434 c.251T>A p.L84* Substitution - Nonsense 19:58545008-58545008 + TCGA-CJ-4904-01 COSM475424 c.461C>G p.T154S Substitution - Missense 19:58545771-58545771 + SWE-3B COSM5521449 c.2193+3G>T p.? Unknown 19:58550038-58550038 + PDA_095 COSM5003231 c.858C>A p.D286E Substitution - Missense 19:58547810-58547810 + YUROG COSM5391022 c.1569A>C p.E523D Substitution - Missense 19:58549147-58549147 + HX29T COSM714035 c.341-7C>T p.? Unknown 19:58545418-58545418 + 345973 COSM3726730 c.1395G>A p.V465V Substitution - coding silent 19:58548896-58548896 + TCGA-EI-6917-01 COSM2974800 c.2143G>A p.E715K Substitution - Missense 19:58549985-58549985 + TCGA-DZ-6135-01 COSM3990373 c.521G>A p.C174Y Substitution - Missense 19:58545831-58545831 + LUAD-LC15C COSM341803 c.1216+2T>A p.? Unknown 19:58548410-58548410 + TCGA-BC-A3KF-01 COSM4927780 c.2062G>T p.D688Y Substitution - Missense 19:58549816-58549816 + CCK81 COSM2974752 c.359G>A p.C120Y Substitution - Missense 19:58545443-58545443 + NCI-H835 COSM2974758 c.706G>A p.A236T Substitution - Missense 19:58547495-58547495 + TCGA-B5-A11E-01 COSM1002776 c.393G>T p.E131D Substitution - Missense 19:58545477-58545477 + CRC-01T COSM4288486 c.2433G>C p.E811D Substitution - Missense 19:58550478-58550478 + TCGA-AP-A0LM-01 COSM1002778 c.889A>G p.M297V Substitution - Missense 19:58547841-58547841 + CHC1731T COSM4792076 c.1005G>T p.M335I Substitution - Missense 19:58548084-58548084 + PT20_2 COSM5943473 c.1445delT p.M482fs*7 Deletion - Frameshift 19:58549023-58549023 + TCGA-A2-A0CR-01 COSM3836056 c.523G>A p.E175K Substitution - Missense 19:58545833-58545833 + ESCC_123 COSM5640904 c.1915A>T p.M639L Substitution - Missense 19:58549583-58549583 + TCGA-BR-A4J1-01 COSM4082478 c.1886G>A p.R629H Substitution - Missense 19:58549554-58549554 + CN-AML-CR-62-Dx COSM3757367 c.1170G>A p.K390K Substitution - coding silent 19:58548362-58548362 + Pat_24_B COSM5856993 c.427G>A p.A143T Substitution - Missense 19:58545511-58545511 + TCGA-HF-7132-01 COSM2974789 c.1663G>C p.E555Q Substitution - Missense 19:58549331-58549331 + CHC892T COSM4958951 c.588G>A p.G196G Substitution - coding silent 19:58547377-58547377 + ESO-117 COSM1268524 c.2196C>A p.D732E Substitution - Missense 19:58550149-58550149 + ESCC_11 COSM5624419 c.1207G>A p.E403K Substitution - Missense 19:58548399-58548399 + I2L-P7-Tumor-Organoid COSM5365568 c.2104C>T p.R702W Substitution - Missense 19:58549858-58549858 + TCGA-AP-A056-01 COSM1002782 c.1569A>G p.E523E Substitution - coding silent 19:58549147-58549147 + YUOTHO COSM5391021 c.950C>T p.A317V Substitution - Missense 19:58547902-58547902 + SNU-175 COSM2974766 c.870T>G p.R290R Substitution - coding silent 19:58547822-58547822 + pfg043T COSM4756145 c.2326A>C p.T776P Substitution - Missense 19:58550279-58550279 + TCGA-BH-A0DZ-01 COSM440561 c.1128C>G p.L376L Substitution - coding silent 19:58548320-58548320 + T21 COSM5343485 c.1102-8C>T p.? Unknown 19:58548286-58548286 + T36 COSM4736015 c.1853C>T p.P618L Substitution - Missense 19:58549521-58549521 + TCGA-CD-A4MG-01 COSM4082477 c.1583C>A p.A528D Substitution - Missense 19:58549161-58549161 + TCGA-CU-A3YL-01 COSM3797647 c.517C>T p.L173L Substitution - coding silent 19:58545827-58545827 + TCGA-EK-A2PG-01 COSM3371544 c.402C>A p.F134L Substitution - Missense 19:58545486-58545486 + ESCC-243T COSM3938352 c.2194-2A>T p.? Unknown 19:58550145-58550145 + TCGA-DK-A2I4-01 COSM2974769 c.1134G>A p.M378I Substitution - Missense 19:58548326-58548326 + SNUH_G26_S1 COSM3757367 c.1170G>A p.K390K Substitution - coding silent 19:58548362-58548362 + YUOTHO COSM5391020 c.649C>T p.L217F Substitution - Missense 19:58547438-58547438 + LUAD-F00368 COSM341171 c.429C>T p.A143A Substitution - coding silent 19:58545513-58545513 + 93VU147T COSM4288486 c.2433G>C p.E811D Substitution - Missense 19:58550478-58550478 + I2L-P24Ta-Tumor-Organoid COSM171193 c.2116C>T p.R706C Substitution - Missense 19:58549958-58549958 + WSU-HN6 COSM4288486 c.2433G>C p.E811D Substitution - Missense 19:58550478-58550478 + T3021 COSM4736014 c.1039C>T p.R347C Substitution - Missense 19:58548118-58548118 + HCC028T COSM5807765 c.1230A>T p.A410A Substitution - coding silent 19:58548499-58548499 + PTC_330 COSM5959990 c.112G>T p.A38S Substitution - Missense 19:58544869-58544869 + HCC149T COSM5817274 c.1201A>G p.S401G Substitution - Missense 19:58548393-58548393 + 86563 COSM95402 c.1846G>A p.G616S Substitution - Missense 19:58549514-58549514 + TCGA-HC-7749-01 COSM440561 c.1128C>G p.L376L Substitution - coding silent 19:58548320-58548320 + T2932 COSM4736018 c.2294T>G p.V765G Substitution - Missense 19:58550247-58550247 + ATL059 COSM5707255 c.778G>A p.V260M Substitution - Missense 19:58547652-58547652 + YULAN COSM1713043 c.1570C>T p.R524C Substitution - Missense 19:58549148-58549148 + 105544 COSM95401 c.1771C>T p.R591C Substitution - Missense 19:58549439-58549439 + 2293764 COSM4607052 c.542A>G p.H181R Substitution - Missense 19:58545852-58545852 + TCGA-AD-6890-01 COSM1397351 c.2142C>T p.H714H Substitution - coding silent 19:58549984-58549984 + B085 COSM308173 c.1475G>T p.R492L Substitution - Missense 19:58549053-58549053 + TCGA-B5-A11E-01 COSM1002780 c.1122G>A p.R374R Substitution - coding silent 19:58548314-58548314 + I2L-P24Ta-Tumor-Biopsy COSM171193 c.2116C>T p.R706C Substitution - Missense 19:58549958-58549958 +

Mutation - CGAP UNIGENE CYTOBAND OMIM SNP Hs.467359;Hs.467408 19q13.4 601742

Mutation - IntOGen Mutated from(ref) Mutated to(alt) Consequence Type AA Mutation CDS Mutation Chr Pos Cancer A C Synonymous p.S417S c.1251A>C 19 59059887 CM A T Missense p.S439C c.1315A>T 19 59059951 BRCA A T Missense p.S501C c.1501A>T 19 59060446 STAD C A Missense p.D732E c.2196C>A 19 59061516 ESCA C A Missense p.P565T c.1693C>A 19 59060728 HNSC C A Nonsense p.S697* c.2090C>A 19 59061211 UCEC CC TT Missense p.P161L c.481_482delinsTT 19 59057158 CM C G Missense p.T154S c.461C>G 19 59057138 RCCC C G Synonymous p.L376L c.1128C>G 19 59059687 PRAD C T Missense p.A587V c.1760C>T 19 59060795 CM C T Missense p.R412C c.1234C>T 19 59059870 BRCA C T Missense p.R492C c.1474C>T 19 59060419 CM C T Synonymous p.I281I c.843C>T 19 59059162 CM C T Synonymous p.I743I c.2229C>T 19 59061549 BRCA C T Synonymous p.L376L c.1128C>T 19 59059687 CM C T Synonymous p.S727S c.2181C>T 19 59061390 LUSC C T Synonymous p.V207V c.621C>T 19 59058777 CM G A Missense p.D225N c.673G>A 19 59058829 UCEC G A Missense p.E583K c.1747G>A 19 59060782 BLCA G A Missense p.G616S c.1846G>A 19 59060881 RCCC G A Missense p.M378I c.1134G>A 19 59059693 BLCA G A Missense p.M443I c.1329G>A 19 59060112 RCCC G A Missense p.V287I c.859G>A 19 59059178 LUAD G C Missense p.V508L c.1522G>C 19 59060467 LUAD GTGA - SpliceDonorDeletion . c.1982+4_1982+7delAGTG 19 59061018 LGG G T Synonymous p.P654P c.1962G>T 19 59060997 CM T A Missense p.L300Q c.899T>A 19 59059218 UCEC T C Synonymous p.H267H c.801T>C 19 59059042 STAD T G Synonymous p.A142A c.426T>G 19 59056877 ESCA - T SpliceDonorInsertion . c.1409+2dupT 19 59060279 THCA