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 13 49064303 49064303 + Missense_Mutation SNP C C T TCGA-BT-A3PK-01A-21D-A21Z-08 TCGA-BT-A3PK-10A-01D-A21Z-08 g.chr13:49064303C>T c.1600G>A c.(1600-1602)Gat>Aat p.D534N BLCA 13 49075883 49075883 + Missense_Mutation SNP C C A TCGA-ZF-AA4W-01A-12D-A38G-08 TCGA-ZF-AA4W-10A-01D-A38J-08 g.chr13:49075883C>A c.1239G>T c.(1237-1239)aaG>aaT p.K413N BLCA 13 49075961 49075961 + Silent SNP T T C TCGA-KQ-A41N-01A-11D-A339-08 TCGA-KQ-A41N-10D-01D-A339-08 g.chr13:49075961T>C c.1161A>G c.(1159-1161)gaA>gaG p.E387E BLCA 13 49076887 49076887 + Missense_Mutation SNP C C T TCGA-ZF-A9R5-01A-12D-A42E-08 TCGA-ZF-A9R5-10A-01D-A42H-08 g.chr13:49076887C>T c.1090G>A c.(1090-1092)Gcc>Acc p.A364T BLCA 13 49076927 49076927 + Silent SNP G G A TCGA-FD-A6TA-01A-12D-A339-08 TCGA-FD-A6TA-10A-21D-A339-08 g.chr13:49076927G>A c.1050C>T c.(1048-1050)ttC>ttT p.F350F BLCA 13 49085972 49085972 + Silent SNP G G A TCGA-DK-A1AC-01A-11D-A13W-08 TCGA-DK-A1AC-10A-01D-A13W-08 g.chr13:49085972G>A c.717C>T c.(715-717)ctC>ctT p.L239L BRCA 13 49073879 49073879 + Missense_Mutation SNP G G A TCGA-AN-A046-01A-21W-A050-09 TCGA-AN-A046-10A-01W-A055-09 g.chr13:49073879G>A c.1262C>T c.(1261-1263)tCg>tTg p.S421L BRCA 13 49075943 49075943 + Silent SNP A A T TCGA-A2-A0CT-01A-31W-A071-09 TCGA-A2-A0CT-10A-01W-A071-09 g.chr13:49075943A>T c.1179T>A c.(1177-1179)acT>acA p.T393T BRCA 13 49086299 49086299 + Missense_Mutation SNP C C G TCGA-A8-A06Q-01A-11W-A050-09 TCGA-A8-A06Q-10A-01W-A055-09 g.chr13:49086299C>G c.528G>C c.(526-528)tgG>tgC p.W176C BRCA 13 49089446 49089446 + Missense_Mutation SNP C C T TCGA-A2-A0EY-01A-11W-A050-09 TCGA-A2-A0EY-10A-01W-A055-09 g.chr13:49089446C>T c.244G>A c.(244-246)Gac>Aac p.D82N BRCA 13 49089765 49089765 + Missense_Mutation SNP C C A TCGA-AN-A046-01A-21W-A050-09 TCGA-AN-A046-10A-01W-A055-09 g.chr13:49089765C>A c.155G>T c.(154-156)gGc>gTc p.G52V BRCA 13 49089817 49089817 + Frame_Shift_Del DEL A A - TCGA-D8-A1XQ-01A-11D-A14K-09 TCGA-D8-A1XQ-10A-01D-A14K-09 g.chr13:49089817delA c.103delT c.(103-105)tccfs p.S35fs CESC 13 49075957 49075957 + Missense_Mutation SNP C C G TCGA-IR-A3LK-01A-12D-A20U-09 TCGA-IR-A3LK-10A-01D-A20U-09 g.chr13:49075957C>G c.1165G>C c.(1165-1167)Gac>Cac p.D389H CESC 13 49075967 49075967 + Silent SNP C C T TCGA-IR-A3LK-01A-12D-A20U-09 TCGA-IR-A3LK-10A-01D-A20U-09 g.chr13:49075967C>T c.1155G>A c.(1153-1155)aaG>aaA p.K385K COAD 13 49064354 49064354 + Missense_Mutation SNP T T G TCGA-CA-6717-01A-11D-1835-10 TCGA-CA-6717-10A-01D-1835-10 g.chr13:49064354T>G c.1549A>C c.(1549-1551)Aac>Cac p.N517H COAD 13 49064378 49064378 + Nonsense_Mutation SNP C C A TCGA-A6-6141-01A-11D-1771-10 TCGA-A6-6141-10A-01D-1771-10 g.chr13:49064378C>A c.1525G>T c.(1525-1527)Gaa>Taa p.E509* COAD 13 49073790 49073790 + Missense_Mutation SNP C C A TCGA-AU-6004-01A-11D-1719-10 TCGA-AU-6004-10A-01D-1719-10 g.chr13:49073790C>A c.1351G>T c.(1351-1353)Gac>Tac p.D451Y COAD 13 49075902 49075902 + Missense_Mutation SNP G G C TCGA-A6-5665-01A-01D-1650-10 TCGA-A6-5665-10A-01D-1650-10 g.chr13:49075902G>C c.1220C>G c.(1219-1221)gCa>gGa p.A407G COAD 13 49076885 49076885 + Silent SNP G G A TCGA-CM-6162-01A-11D-1650-10 TCGA-CM-6162-10A-01D-1650-10 g.chr13:49076885G>A c.1092C>T c.(1090-1092)gcC>gcT p.A364A COAD 13 49077027 49077027 + Missense_Mutation SNP T T C TCGA-CM-4746-01A-01D-1408-10 TCGA-CM-4746-10A-01D-1408-10 g.chr13:49077027T>C c.950A>G c.(949-951)cAc>cGc p.H317R COAD 13 49084816 49084816 + Missense_Mutation SNP C C T TCGA-AA-A00J-01A-02W-A005-10 TCGA-AA-A00J-10A-01W-A005-10 g.chr13:49084816C>T c.875G>A c.(874-876)gGc>gAc p.G292D COAD 13 49086153 49086153 + Splice_Site SNP T T C TCGA-AA-3861-01A-01W-0995-10 TCGA-AA-3861-10A-01W-0995-10 g.chr13:49086153T>C c.674A>G c.(673-675)gAg>gGg p.E225G COAD 13 49086154 49086154 + Frame_Shift_Del DEL C C - TCGA-A6-6781-01A-22D-1924-10 TCGA-A6-6781-10A-01D-1924-10 g.chr13:49086154delC c.673delG c.(673-675)gagfs p.E225fs COAD 13 49086907 49086907 + Silent SNP G G T TCGA-A6-5665-01A-01D-1650-10 TCGA-A6-5665-10A-01D-1650-10 g.chr13:49086907G>T c.474C>A c.(472-474)gcC>gcA p.A158A COAD 13 49089363 49089363 + Silent SNP T T C TCGA-CM-6161-01A-11D-1650-10 TCGA-CM-6161-10A-01D-1650-10 g.chr13:49089363T>C c.327A>G c.(325-327)ccA>ccG p.P109P COAD 13 49089391 49089392 + Frame_Shift_Ins INS - - T TCGA-CM-6162-01A-11D-1650-10 TCGA-CM-6162-10A-01D-1650-10 g.chr13:49089391_49089392insT c.298_299insA c.(298-300)atafs p.I100fs COAD 13 49089740 49089740 + Silent SNP G G A TCGA-CK-4950-01A-01D-1719-10 TCGA-CK-4950-10A-01D-1719-10 g.chr13:49089740G>A c.180C>T c.(178-180)taC>taT p.Y60Y COAD 13 49089771 49089771 + Missense_Mutation SNP A A G TCGA-AA-A010-01A-01W-A00E-09 TCGA-AA-A010-10A-01W-A00E-09 g.chr13:49089771A>G c.149T>C c.(148-150)gTc>gCc p.V50A COAD 13 49089839 49089839 + Silent SNP A A G TCGA-CA-6717-01A-11D-1835-10 TCGA-CA-6717-10A-01D-1835-10 g.chr13:49089839A>G c.81T>C c.(79-81)gaT>gaC p.D27D COAD 13 49096050 49096050 + Missense_Mutation SNP G G C TCGA-AA-3712-01A-21D-1719-10 TCGA-AA-3712-11A-01D-1719-10 g.chr13:49096050G>C c.26C>G c.(25-27)tCt>tGt p.S9C COADREAD 13 49064354 49064354 + Missense_Mutation SNP T T G TCGA-CA-6717-01A-11D-1835-10 TCGA-CA-6717-10A-01D-1835-10 g.chr13:49064354T>G c.1549A>C c.(1549-1551)Aac>Cac p.N517H COADREAD 13 49064378 49064378 + Nonsense_Mutation SNP C C A TCGA-A6-6141-01A-11D-1771-10 TCGA-A6-6141-10A-01D-1771-10 g.chr13:49064378C>A c.1525G>T c.(1525-1527)Gaa>Taa p.E509* COADREAD 13 49073790 49073790 + Missense_Mutation SNP C C A TCGA-AU-6004-01A-11D-1719-10 TCGA-AU-6004-10A-01D-1719-10 g.chr13:49073790C>A c.1351G>T c.(1351-1353)Gac>Tac p.D451Y COADREAD 13 49075902 49075902 + Missense_Mutation SNP G G C TCGA-A6-5665-01A-01D-1650-10 TCGA-A6-5665-10A-01D-1650-10 g.chr13:49075902G>C c.1220C>G c.(1219-1221)gCa>gGa p.A407G COADREAD 13 49076885 49076885 + Silent SNP G G A TCGA-CM-6162-01A-11D-1650-10 TCGA-CM-6162-10A-01D-1650-10 g.chr13:49076885G>A c.1092C>T c.(1090-1092)gcC>gcT p.A364A COADREAD 13 49077027 49077027 + Missense_Mutation SNP T T C TCGA-CM-4746-01A-01D-1408-10 TCGA-CM-4746-10A-01D-1408-10 g.chr13:49077027T>C c.950A>G c.(949-951)cAc>cGc p.H317R COADREAD 13 49084816 49084816 + Missense_Mutation SNP C C T TCGA-AA-A00J-01A-02W-A005-10 TCGA-AA-A00J-10A-01W-A005-10 g.chr13:49084816C>T c.875G>A c.(874-876)gGc>gAc p.G292D COADREAD 13 49086153 49086153 + Splice_Site SNP T T C TCGA-AA-3861-01A-01W-0995-10 TCGA-AA-3861-10A-01W-0995-10 g.chr13:49086153T>C c.674A>G c.(673-675)gAg>gGg p.E225G COADREAD 13 49086154 49086154 + Frame_Shift_Del DEL C C - TCGA-A6-6781-01A-22D-1924-10 TCGA-A6-6781-10A-01D-1924-10 g.chr13:49086154delC c.673delG c.(673-675)gagfs p.E225fs COADREAD 13 49086907 49086907 + Silent SNP G G T TCGA-A6-5665-01A-01D-1650-10 TCGA-A6-5665-10A-01D-1650-10 g.chr13:49086907G>T c.474C>A c.(472-474)gcC>gcA p.A158A COADREAD 13 49089363 49089363 + Silent SNP T T C TCGA-CM-6161-01A-11D-1650-10 TCGA-CM-6161-10A-01D-1650-10 g.chr13:49089363T>C c.327A>G c.(325-327)ccA>ccG p.P109P COADREAD 13 49089391 49089392 + Frame_Shift_Ins INS - - T TCGA-CM-6162-01A-11D-1650-10 TCGA-CM-6162-10A-01D-1650-10 g.chr13:49089391_49089392insT c.298_299insA c.(298-300)atafs p.I100fs COADREAD 13 49089740 49089740 + Silent SNP G G A TCGA-CK-4950-01A-01D-1719-10 TCGA-CK-4950-10A-01D-1719-10 g.chr13:49089740G>A c.180C>T c.(178-180)taC>taT p.Y60Y COADREAD 13 49089771 49089771 + Missense_Mutation SNP A A G TCGA-AA-A010-01A-01W-A00E-09 TCGA-AA-A010-10A-01W-A00E-09 g.chr13:49089771A>G c.149T>C c.(148-150)gTc>gCc p.V50A COADREAD 13 49089839 49089839 + Silent SNP A A G TCGA-CA-6717-01A-11D-1835-10 TCGA-CA-6717-10A-01D-1835-10 g.chr13:49089839A>G c.81T>C c.(79-81)gaT>gaC p.D27D COADREAD 13 49096050 49096050 + Missense_Mutation SNP G G C TCGA-AA-3712-01A-21D-1719-10 TCGA-AA-3712-11A-01D-1719-10 g.chr13:49096050G>C c.26C>G c.(25-27)tCt>tGt p.S9C ESCA 13 49085916 49085916 + Missense_Mutation SNP C C T TCGA-L5-A4OI-01A-11D-A27G-09 TCGA-L5-A4OI-11A-11D-A27G-09 g.chr13:49085916C>T c.773G>A c.(772-774)cGt>cAt p.R258H GBM 13 49070369 49070369 + Missense_Mutation SNP A A T TCGA-32-5222-01A-01D-1486-08 TCGA-32-5222-10A-01D-1486-08 g.chr13:49070369A>T c.1473T>A c.(1471-1473)aaT>aaA p.N491K GBM 13 49089796 49089796 + Missense_Mutation SNP G G C TCGA-19-2629-01A-01D-1495-08 TCGA-19-2629-10A-01D-1495-08 g.chr13:49089796G>C c.124C>G c.(124-126)Cta>Gta p.L42V GBMLGG 13 49070369 49070369 + Missense_Mutation SNP A A T TCGA-32-5222-01A-01D-1486-08 TCGA-32-5222-10A-01D-1486-08 g.chr13:49070369A>T c.1473T>A c.(1471-1473)aaT>aaA p.N491K GBMLGG 13 49070385 49070385 + Missense_Mutation SNP C C T TCGA-DU-6392-01A-11D-1705-08 TCGA-DU-6392-10A-01D-1705-08 g.chr13:49070385C>T c.1457G>A c.(1456-1458)gGc>gAc p.G486D GBMLGG 13 49070412 49070412 + Missense_Mutation SNP T T C TCGA-HT-7603-01A-21D-2086-08 TCGA-HT-7603-10A-01D-2086-08 g.chr13:49070412T>C c.1430A>G c.(1429-1431)aAg>aGg p.K477R GBMLGG 13 49075921 49075921 + Missense_Mutation SNP C C T TCGA-DU-6392-01A-11D-1705-08 TCGA-DU-6392-10A-01D-1705-08 g.chr13:49075921C>T c.1201G>A c.(1201-1203)Gat>Aat p.D401N GBMLGG 13 49075985 49075985 + Silent SNP T T C TCGA-S9-A6UA-01A-12D-A33T-08 TCGA-S9-A6UA-10A-01D-A33W-08 g.chr13:49075985T>C c.1137A>G c.(1135-1137)acA>acG p.T379T GBMLGG 13 49089796 49089796 + Missense_Mutation SNP G G C TCGA-19-2629-01A-01D-1495-08 TCGA-19-2629-10A-01D-1495-08 g.chr13:49089796G>C c.124C>G c.(124-126)Cta>Gta p.L42V HNSC 13 49070352 49070352 + Missense_Mutation SNP G G A TCGA-HD-8634-01A-11D-2394-08 TCGA-HD-8634-10A-01D-2394-08 g.chr13:49070352G>A c.1490C>T c.(1489-1491)tCg>tTg p.S497L HNSC 13 49073886 49073886 + Missense_Mutation SNP A A G TCGA-P3-A6SW-01A-11D-A34J-08 TCGA-P3-A6SW-10A-01D-A34M-08 g.chr13:49073886A>G c.1255T>C c.(1255-1257)Ttt>Ctt p.F419L HNSC 13 49076887 49076887 + Missense_Mutation SNP C C T TCGA-BA-5151-01A-01D-1434-08 TCGA-BA-5151-10A-01D-1434-08 g.chr13:49076887C>T c.1090G>A c.(1090-1092)Gcc>Acc p.A364T HNSC 13 49076892 49076892 + Missense_Mutation SNP G G A TCGA-CN-6012-01A-11D-1683-08 TCGA-CN-6012-10A-01D-1683-08 g.chr13:49076892G>A c.1085C>T c.(1084-1086)aCg>aTg p.T362M HNSC 13 49084844 49084844 + Missense_Mutation SNP C C T TCGA-UF-A7JD-01A-11D-A34J-08 TCGA-UF-A7JD-10A-01D-A34M-08 g.chr13:49084844C>T c.847G>A c.(847-849)Gcc>Acc p.A283T HNSC 13 49086282 49086282 + Missense_Mutation SNP C C A TCGA-BA-4075-01A-01D-1434-08 TCGA-BA-4075-10A-01D-1434-08 g.chr13:49086282C>A c.545G>T c.(544-546)gGg>gTg p.G182V KIPAN 13 49084795 49084795 + Missense_Mutation SNP T T A TCGA-B8-4143-01A-01D-1806-10 TCGA-B8-4143-11A-01D-1251-10 g.chr13:49084795T>A c.896A>T c.(895-897)tAt>tTt p.Y299F KIPAN 13 49086880 49086880 + Silent SNP T T C TCGA-EU-5904-01A-11D-1669-08 TCGA-EU-5904-10A-01D-1669-08 g.chr13:49086880T>C c.501A>G c.(499-501)ctA>ctG p.L167L KIRC 13 49084795 49084795 + Missense_Mutation SNP T T A TCGA-B8-4143-01A-01D-1806-10 TCGA-B8-4143-11A-01D-1251-10 g.chr13:49084795T>A c.896A>T c.(895-897)tAt>tTt p.Y299F KIRC 13 49086880 49086880 + Silent SNP T T C TCGA-EU-5904-01A-11D-1669-08 TCGA-EU-5904-10A-01D-1669-08 g.chr13:49086880T>C c.501A>G c.(499-501)ctA>ctG p.L167L LGG 13 49070385 49070385 + Missense_Mutation SNP C C T TCGA-DU-6392-01A-11D-1705-08 TCGA-DU-6392-10A-01D-1705-08 g.chr13:49070385C>T c.1457G>A c.(1456-1458)gGc>gAc p.G486D LGG 13 49070412 49070412 + Missense_Mutation SNP T T C TCGA-HT-7603-01A-21D-2086-08 TCGA-HT-7603-10A-01D-2086-08 g.chr13:49070412T>C c.1430A>G c.(1429-1431)aAg>aGg p.K477R LGG 13 49075921 49075921 + Missense_Mutation SNP C C T TCGA-DU-6392-01A-11D-1705-08 TCGA-DU-6392-10A-01D-1705-08 g.chr13:49075921C>T c.1201G>A c.(1201-1203)Gat>Aat p.D401N LGG 13 49075985 49075985 + Silent SNP T T C TCGA-S9-A6UA-01A-12D-A33T-08 TCGA-S9-A6UA-10A-01D-A33W-08 g.chr13:49075985T>C c.1137A>G c.(1135-1137)acA>acG p.T379T LIHC 13 49070340 49070340 + Missense_Mutation SNP T T C TCGA-G3-A3CG-01A-11D-A20W-10 TCGA-G3-A3CG-10A-01D-A20W-10 g.chr13:49070340T>C c.1502A>G c.(1501-1503)aAg>aGg p.K501R LIHC 13 49073817 49073817 + Missense_Mutation SNP G G A TCGA-BC-A3KF-01A-11D-A20W-10 TCGA-BC-A3KF-10A-01D-A20W-10 g.chr13:49073817G>A c.1324C>T c.(1324-1326)Cgg>Tgg p.R442W LIHC 13 49086978 49086978 + Missense_Mutation SNP T T C TCGA-DD-AAEE-01A-11D-A40R-10 TCGA-DD-AAEE-10A-01D-A40U-10 g.chr13:49086978T>C c.403A>G c.(403-405)Aca>Gca p.T135A LUAD 13 49073856 49073856 + Missense_Mutation SNP C C T TCGA-44-A47B-01A-11D-A24D-08 TCGA-44-A47B-10A-01D-A24F-08 g.chr13:49073856C>T c.1285G>A c.(1285-1287)Gat>Aat p.D429N LUAD 13 49075967 49075967 + Missense_Mutation SNP C C A TCGA-17-Z030-01A-01W-0746-08 TCGA-17-Z030-11A-01W-0746-08 g.chr13:49075967C>A c.1155G>T c.(1153-1155)aaG>aaT p.K385N LUAD 13 49076859 49076859 + Splice_Site SNP C C A TCGA-78-7166-01A-12D-2063-08 TCGA-78-7166-11A-01D-2063-08 g.chr13:49076859C>A c.e11+1 LUAD 13 49076876 49076876 + Frame_Shift_Del DEL C C - TCGA-55-7994-01A-11D-2184-08 TCGA-55-7994-10A-01D-2184-08 g.chr13:49076876delC c.1101delG c.(1099-1101)tggfs p.W367fs LUAD 13 49076887 49076887 + Missense_Mutation SNP C C A TCGA-64-1676-01A-01D-0969-08 TCGA-64-1676-10A-01D-0969-08 g.chr13:49076887C>A c.1090G>T c.(1090-1092)Gcc>Tcc p.A364S LUAD 13 49084908 49084908 + Splice_Site SNP C C A TCGA-55-A493-01A-11D-A24D-08 TCGA-55-A493-10A-01D-A24F-08 g.chr13:49084908C>A c.e10-1 LUAD 13 49086961 49086961 + Missense_Mutation SNP T T G TCGA-NJ-A55R-01A-11D-A25L-08 TCGA-NJ-A55R-10A-01D-A25L-08 g.chr13:49086961T>G c.420A>C c.(418-420)ttA>ttC p.L140F LUAD 13 49086998 49086998 + Missense_Mutation SNP T T C TCGA-05-4382-01A-01D-1931-08 TCGA-05-4382-10A-01D-1265-08 g.chr13:49086998T>C c.383A>G c.(382-384)tAt>tGt p.Y128C LUAD 13 49089381 49089381 + Silent SNP G G A TCGA-86-A456-01A-11D-A24D-08 TCGA-86-A456-10A-01D-A24F-08 g.chr13:49089381G>A c.309C>T c.(307-309)ctC>ctT p.L103L LUAD 13 49089420 49089420 + Silent SNP C C G TCGA-MP-A4SV-01A-11D-A24P-08 TCGA-MP-A4SV-10A-01D-A24P-08 g.chr13:49089420C>G c.270G>C c.(268-270)cgG>cgC p.R90R LUAD 13 49089463 49089463 + Missense_Mutation SNP C C A TCGA-55-A4DG-01A-11D-A24D-08 TCGA-55-A4DG-10A-01D-A24F-08 g.chr13:49089463C>A c.227G>T c.(226-228)gGc>gTc p.G76V LUAD 13 49089464 49089464 + Missense_Mutation SNP C C A TCGA-55-A4DG-01A-11D-A24D-08 TCGA-55-A4DG-10A-01D-A24F-08 g.chr13:49089464C>A c.226G>T c.(226-228)Ggc>Tgc p.G76C LUSC 13 49084844 49084844 + Missense_Mutation SNP C C T TCGA-60-2726-01A-01D-1522-08 TCGA-60-2726-11A-01D-1522-08 g.chr13:49084844C>T c.847G>A c.(847-849)Gcc>Acc p.A283T LUSC 13 49085987 49085987 + Silent SNP G G A TCGA-22-5472-01A-01D-1632-08 TCGA-22-5472-11A-11D-1632-08 g.chr13:49085987G>A c.702C>T c.(700-702)aaC>aaT p.N234N LUSC 13 49096059 49096059 + Missense_Mutation SNP G G T TCGA-66-2754-01A-01D-0983-08 TCGA-66-2754-11A-01D-0983-08 g.chr13:49096059G>T c.17C>A c.(16-18)cCt>cAt p.P6H OV 13 49077028 49077028 + Missense_Mutation SNP G G A TCGA-61-2113-01A-01W-0722-08 TCGA-61-2113-11A-01W-0723-08 g.chr13:49077028G>A c.949C>T c.(949-951)Cac>Tac p.H317Y OV 13 49086005 49086005 + Silent SNP G G A TCGA-09-1665-01B-01W-0615-10 TCGA-09-1665-11B-01W-0616-10 g.chr13:49086005G>A c.684C>T c.(682-684)gtC>gtT p.V228V PAAD 13 49064315 49064315 + Missense_Mutation SNP C C T TCGA-IB-7651-01A-11D-2154-08 TCGA-IB-7651-10A-01D-2154-08 g.chr13:49064315C>T c.1588G>A c.(1588-1590)Gaa>Aaa p.E530K PCPG 13 49076986 49076986 + Missense_Mutation SNP C C T TCGA-QT-A5XP-01A-11D-A35D-08 TCGA-QT-A5XP-10A-01D-A35B-08 g.chr13:49076986C>T c.991G>A c.(991-993)Gtg>Atg p.V331M PRAD 13 49076874 49076874 + Missense_Mutation SNP C C A TCGA-G9-6336-01A-11D-1786-08 TCGA-G9-6336-10A-01D-1786-08 g.chr13:49076874C>A c.1103G>T c.(1102-1104)cGc>cTc p.R368L SKCM 13 49073831 49073831 + Missense_Mutation SNP G G A TCGA-EE-A29M-06A-11D-A196-08 TCGA-EE-A29M-10A-01D-A198-08 g.chr13:49073831G>A c.1310C>T c.(1309-1311)tCa>tTa p.S437L SKCM 13 49076948 49076948 + Silent SNP G G A TCGA-FS-A4FD-06A-11D-A25O-08 TCGA-FS-A4FD-10B-01D-A25O-08 g.chr13:49076948G>A c.1029C>T c.(1027-1029)atC>atT p.I343I SKCM 13 49085947 49085947 + Missense_Mutation SNP G G A TCGA-EE-A2GI-06A-11D-A196-08 TCGA-EE-A2GI-10A-01D-A198-08 g.chr13:49085947G>A c.742C>T c.(742-744)Cct>Tct p.P248S SKCM 13 49086897 49086897 + Missense_Mutation SNP A A G TCGA-EE-A2GB-06A-11D-A197-08 TCGA-EE-A2GB-10A-01D-A199-08 g.chr13:49086897A>G c.484T>C c.(484-486)Tac>Cac p.Y162H

Mutation - ICGC Project Code Chromosome Chromosome Start Chromosome End Mutation Type Mutated from Allele Mutated to Allele Consequence Type AA Mutation CDS Mutation BLCA-US 13 49064303 49064303 single base substitution C T exon_variant BLCA-US 13 49064303 49064303 single base substitution C T missense_variant D260N 778G>A BLCA-US 13 49064303 49064303 single base substitution C T missense_variant D534N 1600G>A BLCA-US 13 49064303 49064303 single base substitution C T missense_variant D539N 1615G>A BLCA-US 13 49085972 49085972 single base substitution G A downstream_gene_variant BLCA-US 13 49085972 49085972 single base substitution G A missense_variant S13L 38C>T BLCA-US 13 49085972 49085972 single base substitution G A synonymous_variant L215L 645C>T BLCA-US 13 49085972 49085972 single base substitution G A synonymous_variant L239L 717C>T BLCA-US 13 49085972 49085972 single base substitution G A synonymous_variant L244L 732C>T BOCA-FR 13 49097328 49097328 single base substitution C A intron_variant BRCA-EU 13 49058990 49058990 single base substitution G A downstream_gene_variant BRCA-EU 13 49060145 49060145 single base substitution G A downstream_gene_variant BRCA-EU 13 49060792 49060792 deletion of <=200bp T - downstream_gene_variant BRCA-EU 13 49062809 49062810 deletion of <=200bp TG - downstream_gene_variant BRCA-EU 13 49063077 49063077 deletion of <=200bp A - downstream_gene_variant BRCA-EU 13 49063214 49063214 single base substitution G C 3_prime_UTR_variant BRCA-EU 13 49063214 49063214 single base substitution G C downstream_gene_variant BRCA-EU 13 49066131 49066131 single base substitution T C intron_variant BRCA-EU 13 49066880 49066880 single base substitution C A intron_variant BRCA-EU 13 49066880 49066880 single base substitution C A upstream_gene_variant BRCA-EU 13 49068618 49068618 single base substitution C G intron_variant BRCA-EU 13 49068618 49068618 single base substitution C G upstream_gene_variant BRCA-EU 13 49069192 49069192 deletion of <=200bp G - intron_variant BRCA-EU 13 49069192 49069192 deletion of <=200bp G - upstream_gene_variant BRCA-EU 13 49069200 49069200 single base substitution G A intron_variant BRCA-EU 13 49069200 49069200 single base substitution G A upstream_gene_variant BRCA-EU 13 49070359 49070359 single base substitution G A synonymous_variant L221L 661C>T BRCA-EU 13 49070359 49070359 single base substitution G A synonymous_variant L495L 1483C>T BRCA-EU 13 49070359 49070359 single base substitution G A synonymous_variant L500L 1498C>T BRCA-EU 13 49070359 49070359 single base substitution G A upstream_gene_variant BRCA-EU 13 49070585 49070585 single base substitution C A intron_variant BRCA-EU 13 49070585 49070585 single base substitution C A upstream_gene_variant BRCA-EU 13 49072615 49072615 single base substitution C G downstream_gene_variant BRCA-EU 13 49072615 49072615 single base substitution C G intron_variant BRCA-EU 13 49072967 49072967 single base substitution C A downstream_gene_variant BRCA-EU 13 49072967 49072967 single base substitution C A intron_variant BRCA-EU 13 49073828 49073828 single base substitution T C downstream_gene_variant BRCA-EU 13 49073828 49073828 single base substitution T C missense_variant Y164C 491A>G BRCA-EU 13 49073828 49073828 single base substitution T C missense_variant Y438C 1313A>G BRCA-EU 13 49073828 49073828 single base substitution T C missense_variant Y443C 1328A>G BRCA-EU 13 49074237 49074237 single base substitution T C downstream_gene_variant BRCA-EU 13 49074237 49074237 single base substitution T C intron_variant BRCA-EU 13 49076964 49076964 single base substitution C T missense_variant R338Q 1013G>A BRCA-EU 13 49076964 49076964 single base substitution C T missense_variant R343Q 1028G>A BRCA-EU 13 49076964 49076964 single base substitution C T missense_variant R64Q 191G>A BRCA-EU 13 49076964 49076964 single base substitution C T synonymous_variant P266P 798G>A BRCA-EU 13 49077450 49077450 single base substitution G C intron_variant BRCA-EU 13 49077763 49077763 single base substitution C A intron_variant BRCA-EU 13 49078064 49078064 single base substitution G C intron_variant BRCA-EU 13 49081613 49081613 deletion of <=200bp A - downstream_gene_variant BRCA-EU 13 49081613 49081613 deletion of <=200bp A - intron_variant BRCA-EU 13 49082819 49082819 single base substitution C T downstream_gene_variant BRCA-EU 13 49082819 49082819 single base substitution C T intron_variant BRCA-EU 13 49086186 49086186 single base substitution T G 5_prime_UTR_variant BRCA-EU 13 49086186 49086186 single base substitution T G downstream_gene_variant BRCA-EU 13 49086186 49086186 single base substitution T G missense_variant Q190P 569A>C BRCA-EU 13 49086186 49086186 single base substitution T G missense_variant Q214P 641A>C BRCA-EU 13 49086186 49086186 single base substitution T G missense_variant Q219P 656A>C BRCA-EU 13 49087085 49087085 single base substitution G A intron_variant BRCA-EU 13 49088657 49088657 single base substitution C T intron_variant BRCA-EU 13 49088857 49088857 single base substitution G T intron_variant BRCA-EU 13 49090808 49090808 single base substitution G A intron_variant BRCA-EU 13 49091522 49091522 single base substitution C T intron_variant BRCA-EU 13 49091908 49091908 single base substitution G C intron_variant BRCA-EU 13 49095040 49095040 single base substitution A C intron_variant BRCA-EU 13 49097852 49097852 deletion of <=200bp A - intron_variant BRCA-EU 13 49098207 49098207 single base substitution A C intron_variant BRCA-EU 13 49098703 49098703 single base substitution G T intron_variant BRCA-EU 13 49100461 49100461 single base substitution C A intron_variant BRCA-EU 13 49103389 49103389 deletion of <=200bp A - intron_variant BRCA-EU 13 49103896 49103896 single base substitution T C intron_variant BRCA-EU 13 49105407 49105407 deletion of <=200bp A - intron_variant BRCA-EU 13 49107150 49107150 single base substitution C G intron_variant BRCA-EU 13 49107334 49107334 single base substitution A T 5_prime_UTR_variant BRCA-EU 13 49107334 49107334 single base substitution A T upstream_gene_variant BRCA-EU 13 49109250 49109250 single base substitution G A upstream_gene_variant BRCA-EU 13 49109567 49109567 single base substitution T C upstream_gene_variant BRCA-EU 13 49110727 49110727 single base substitution G A upstream_gene_variant BRCA-EU 13 49110761 49110761 single base substitution A T upstream_gene_variant BRCA-EU 13 49112035 49112035 single base substitution C G upstream_gene_variant BRCA-FR 13 49063214 49063214 single base substitution G C 3_prime_UTR_variant BRCA-FR 13 49063214 49063214 single base substitution G C downstream_gene_variant BRCA-FR 13 49070585 49070585 single base substitution C A intron_variant BRCA-FR 13 49070585 49070585 single base substitution C A upstream_gene_variant BRCA-FR 13 49075679 49075679 single base substitution G C downstream_gene_variant BRCA-FR 13 49075679 49075679 single base substitution G C intron_variant BRCA-FR 13 49077763 49077763 single base substitution C A intron_variant BRCA-FR 13 49087085 49087085 single base substitution G A intron_variant BRCA-FR 13 49091011 49091011 single base substitution G A intron_variant BRCA-FR 13 49091100 49091100 single base substitution G T intron_variant BRCA-FR 13 49101323 49101323 single base substitution G A intron_variant BRCA-FR 13 49103780 49103780 single base substitution G C intron_variant BRCA-UK 13 49086186 49086186 single base substitution T G 5_prime_UTR_variant BRCA-UK 13 49086186 49086186 single base substitution T G downstream_gene_variant BRCA-UK 13 49086186 49086186 single base substitution T G missense_variant Q190P 569A>C BRCA-UK 13 49086186 49086186 single base substitution T G missense_variant Q214P 641A>C BRCA-UK 13 49086186 49086186 single base substitution T G missense_variant Q219P 656A>C BRCA-US 13 49073879 49073879 single base substitution G A downstream_gene_variant BRCA-US 13 49073879 49073879 single base substitution G A missense_variant S147L 440C>T BRCA-US 13 49073879 49073879 single base substitution G A missense_variant S421L 1262C>T BRCA-US 13 49073879 49073879 single base substitution G A missense_variant S426L 1277C>T BRCA-US 13 49075943 49075943 single base substitution A T downstream_gene_variant BRCA-US 13 49075943 49075943 single base substitution A T synonymous_variant T119T 357T>A BRCA-US 13 49075943 49075943 single base substitution A T synonymous_variant T393T 1179T>A BRCA-US 13 49075943 49075943 single base substitution A T synonymous_variant T398T 1194T>A BRCA-US 13 49086299 49086299 single base substitution C G exon_variant BRCA-US 13 49086299 49086299 single base substitution C G intron_variant BRCA-US 13 49086299 49086299 single base substitution C G missense_variant W152C 456G>C BRCA-US 13 49086299 49086299 single base substitution C G missense_variant W176C 528G>C BRCA-US 13 49086299 49086299 single base substitution C G missense_variant W181C 543G>C BRCA-US 13 49089446 49089446 single base substitution C T 5_prime_UTR_variant BRCA-US 13 49089446 49089446 single base substitution C T exon_variant BRCA-US 13 49089446 49089446 single base substitution C T missense_variant D58N 172G>A BRCA-US 13 49089446 49089446 single base substitution C T missense_variant D82N 244G>A BRCA-US 13 49089446 49089446 single base substitution C T missense_variant D87N 259G>A BRCA-US 13 49089765 49089765 single base substitution C A 5_prime_UTR_variant BRCA-US 13 49089765 49089765 single base substitution C A exon_variant BRCA-US 13 49089765 49089765 single base substitution C A missense_variant G28V 83G>T BRCA-US 13 49089765 49089765 single base substitution C A missense_variant G52V 155G>T BRCA-US 13 49089765 49089765 single base substitution C A missense_variant G57V 170G>T BRCA-US 13 49089817 49089817 deletion of <=200bp A - 5_prime_UTR_variant BRCA-US 13 49089817 49089817 deletion of <=200bp A - exon_variant BRCA-US 13 49089817 49089817 deletion of <=200bp A - frameshift_variant S11 BRCA-US 13 49089817 49089817 deletion of <=200bp A - frameshift_variant S35 BRCA-US 13 49089817 49089817 deletion of <=200bp A - frameshift_variant S40 BTCA-JP 13 49070462 49070462 single base substitution C A splice_region_variant BTCA-JP 13 49070462 49070462 single base substitution C A upstream_gene_variant BTCA-JP 13 49073883 49073883 single base substitution G A downstream_gene_variant BTCA-JP 13 49073883 49073883 single base substitution G A missense_variant R146C 436C>T BTCA-JP 13 49073883 49073883 single base substitution G A missense_variant R420C 1258C>T BTCA-JP 13 49073883 49073883 single base substitution G A missense_variant R425C 1273C>T BTCA-JP 13 49084992 49084992 deletion of <=200bp A - downstream_gene_variant BTCA-JP 13 49084992 49084992 deletion of <=200bp A - intron_variant BTCA-JP 13 49089621 49089621 deletion of <=200bp T - intron_variant CESC-US 13 49075957 49075957 single base substitution C G downstream_gene_variant CESC-US 13 49075957 49075957 single base substitution C G missense_variant D115H 343G>C CESC-US 13 49075957 49075957 single base substitution C G missense_variant D389H 1165G>C CESC-US 13 49075957 49075957 single base substitution C G missense_variant D394H 1180G>C CESC-US 13 49075967 49075967 single base substitution C T downstream_gene_variant CESC-US 13 49075967 49075967 single base substitution C T synonymous_variant K111K 333G>A CESC-US 13 49075967 49075967 single base substitution C T synonymous_variant K385K 1155G>A CESC-US 13 49075967 49075967 single base substitution C T synonymous_variant K390K 1170G>A CLLE-ES 13 49070137 49070137 single base substitution C T intron_variant CLLE-ES 13 49070137 49070137 single base substitution C T upstream_gene_variant CLLE-ES 13 49071716 49071716 single base substitution G C intron_variant CLLE-ES 13 49076103 49076103 single base substitution A T downstream_gene_variant CLLE-ES 13 49076103 49076103 single base substitution A T intron_variant CLLE-ES 13 49082988 49082988 single base substitution C T downstream_gene_variant CLLE-ES 13 49082988 49082988 single base substitution C T intron_variant CLLE-ES 13 49094645 49094645 single base substitution T A intron_variant CLLE-ES 13 49109195 49109195 single base substitution A G upstream_gene_variant COAD-US 13 49064354 49064354 single base substitution T G exon_variant COAD-US 13 49064354 49064354 single base substitution T G missense_variant N243H 727A>C COAD-US 13 49064354 49064354 single base substitution T G missense_variant N517H 1549A>C COAD-US 13 49064354 49064354 single base substitution T G missense_variant N522H 1564A>C COAD-US 13 49064378 49064378 single base substitution C A exon_variant COAD-US 13 49064378 49064378 single base substitution C A stop_gained E235* 703G>T COAD-US 13 49064378 49064378 single base substitution C A stop_gained E509* 1525G>T COAD-US 13 49064378 49064378 single base substitution C A stop_gained E514* 1540G>T COAD-US 13 49075902 49075902 single base substitution G C downstream_gene_variant COAD-US 13 49075902 49075902 single base substitution G C missense_variant A133G 398C>G COAD-US 13 49075902 49075902 single base substitution G C missense_variant A407G 1220C>G COAD-US 13 49075902 49075902 single base substitution G C missense_variant A412G 1235C>G COAD-US 13 49076885 49076885 single base substitution G A 3_prime_UTR_variant COAD-US 13 49076885 49076885 single base substitution G A synonymous_variant A364A 1092C>T COAD-US 13 49076885 49076885 single base substitution G A synonymous_variant A369A 1107C>T COAD-US 13 49076885 49076885 single base substitution G A synonymous_variant A90A 270C>T COAD-US 13 49086154 49086154 deletion of <=200bp C - downstream_gene_variant COAD-US 13 49086154 49086154 deletion of <=200bp C - frameshift_variant E201 COAD-US 13 49086154 49086154 deletion of <=200bp C - frameshift_variant E225 COAD-US 13 49086154 49086154 deletion of <=200bp C - frameshift_variant E230 COAD-US 13 49086154 49086154 deletion of <=200bp C - splice_region_variant COAD-US 13 49086907 49086907 single base substitution G T exon_variant COAD-US 13 49086907 49086907 single base substitution G T intron_variant COAD-US 13 49086907 49086907 single base substitution G T synonymous_variant A134A 402C>A COAD-US 13 49086907 49086907 single base substitution G T synonymous_variant A158A 474C>A COAD-US 13 49086907 49086907 single base substitution G T synonymous_variant A163A 489C>A COAD-US 13 49089392 49089392 deletion of <=200bp T - 5_prime_UTR_variant COAD-US 13 49089392 49089392 deletion of <=200bp T - exon_variant COAD-US 13 49089392 49089392 deletion of <=200bp T - frameshift_variant I100 COAD-US 13 49089392 49089392 deletion of <=200bp T - frameshift_variant I105 COAD-US 13 49089392 49089392 deletion of <=200bp T - frameshift_variant I76 COAD-US 13 49089740 49089740 single base substitution G A 5_prime_UTR_variant COAD-US 13 49089740 49089740 single base substitution G A exon_variant COAD-US 13 49089740 49089740 single base substitution G A synonymous_variant Y36Y 108C>T COAD-US 13 49089740 49089740 single base substitution G A synonymous_variant Y60Y 180C>T COAD-US 13 49089740 49089740 single base substitution G A synonymous_variant Y65Y 195C>T COAD-US 13 49089839 49089839 single base substitution A G 5_prime_UTR_variant COAD-US 13 49089839 49089839 single base substitution A G exon_variant COAD-US 13 49089839 49089839 single base substitution A G synonymous_variant D27D 81T>C COAD-US 13 49089839 49089839 single base substitution A G synonymous_variant D32D 96T>C COAD-US 13 49089839 49089839 single base substitution A G synonymous_variant D3D 9T>C COAD-US 13 49096050 49096050 single base substitution G C intron_variant COAD-US 13 49096050 49096050 single base substitution G C missense_variant S9C 26C>G COCA-CN 13 49064292 49064292 single base substitution C A exon_variant COCA-CN 13 49064292 49064292 single base substitution C A missense_variant K263N 789G>T COCA-CN 13 49064292 49064292 single base substitution C A missense_variant K537N 1611G>T COCA-CN 13 49064292 49064292 single base substitution C A missense_variant K542N 1626G>T COCA-CN 13 49067493 49067493 single base substitution A T intron_variant COCA-CN 13 49067493 49067493 single base substitution A T upstream_gene_variant COCA-CN 13 49072082 49072082 single base substitution G A downstream_gene_variant COCA-CN 13 49072082 49072082 single base substitution G A intron_variant COCA-CN 13 49077089 49077089 single base substitution G A intron_variant COCA-CN 13 49085853 49085853 single base substitution C A downstream_gene_variant COCA-CN 13 49085853 49085853 single base substitution C A intron_variant COCA-CN 13 49089288 49089288 single base substitution C T intron_variant COCA-CN 13 49089620 49089620 single base substitution C T intron_variant COCA-CN 13 49107074 49107074 single base substitution G T intron_variant COCA-CN 13 49109989 49109989 single base substitution C A upstream_gene_variant ESAD-UK 13 49059114 49059114 single base substitution A C downstream_gene_variant ESAD-UK 13 49059412 49059412 insertion of <=200bp - A downstream_gene_variant ESAD-UK 13 49060405 49060405 single base substitution A G downstream_gene_variant ESAD-UK 13 49064906 49064906 single base substitution A G intron_variant ESAD-UK 13 49065931 49065931 single base substitution T A intron_variant ESAD-UK 13 49065968 49065968 single base substitution A C intron_variant ESAD-UK 13 49070002 49070002 single base substitution T A intron_variant ESAD-UK 13 49070002 49070002 single base substitution T A upstream_gene_variant ESAD-UK 13 49073273 49073280 deletion of <=200bp CACACACT - downstream_gene_variant ESAD-UK 13 49073273 49073280 deletion of <=200bp CACACACT - intron_variant ESAD-UK 13 49073508 49073508 single base substitution C T downstream_gene_variant ESAD-UK 13 49073508 49073508 single base substitution C T intron_variant ESAD-UK 13 49073878 49073878 single base substitution C A downstream_gene_variant ESAD-UK 13 49073878 49073878 single base substitution C A synonymous_variant S147S 441G>T ESAD-UK 13 49073878 49073878 single base substitution C A synonymous_variant S421S 1263G>T ESAD-UK 13 49073878 49073878 single base substitution C A synonymous_variant S426S 1278G>T ESAD-UK 13 49074008 49074008 single base substitution C T downstream_gene_variant ESAD-UK 13 49074008 49074008 single base substitution C T intron_variant ESAD-UK 13 49074123 49074123 single base substitution G T downstream_gene_variant ESAD-UK 13 49074123 49074123 single base substitution G T intron_variant ESAD-UK 13 49074515 49074515 single base substitution G A downstream_gene_variant ESAD-UK 13 49074515 49074515 single base substitution G A intron_variant ESAD-UK 13 49075762 49075762 single base substitution G C downstream_gene_variant ESAD-UK 13 49075762 49075762 single base substitution G C intron_variant ESAD-UK 13 49076313 49076313 single base substitution C A downstream_gene_variant ESAD-UK 13 49076313 49076313 single base substitution C A intron_variant ESAD-UK 13 49078419 49078419 single base substitution C T intron_variant ESAD-UK 13 49081498 49081498 single base substitution C T downstream_gene_variant ESAD-UK 13 49081498 49081498 single base substitution C T intron_variant ESAD-UK 13 49082342 49082342 single base substitution A C downstream_gene_variant ESAD-UK 13 49082342 49082342 single base substitution A C intron_variant ESAD-UK 13 49084284 49084284 single base substitution G A downstream_gene_variant ESAD-UK 13 49084284 49084284 single base substitution G A intron_variant ESAD-UK 13 49087197 49087197 single base substitution G A intron_variant ESAD-UK 13 49087842 49087842 single base substitution C G intron_variant ESAD-UK 13 49089391 49089391 single base substitution A T 5_prime_UTR_variant ESAD-UK 13 49089391 49089391 single base substitution A T exon_variant ESAD-UK 13 49089391 49089391 single base substitution A T missense_variant I100K 299T>A ESAD-UK 13 49089391 49089391 single base substitution A T missense_variant I105K 314T>A ESAD-UK 13 49089391 49089391 single base substitution A T missense_variant I76K 227T>A ESAD-UK 13 49089823 49089823 single base substitution T A 5_prime_UTR_variant ESAD-UK 13 49089823 49089823 single base substitution T A exon_variant ESAD-UK 13 49089823 49089823 single base substitution T A missense_variant I33F 97A>T ESAD-UK 13 49089823 49089823 single base substitution T A missense_variant I38F 112A>T ESAD-UK 13 49089823 49089823 single base substitution T A missense_variant I9F 25A>T ESAD-UK 13 49092373 49092373 single base substitution C T intron_variant ESAD-UK 13 49093575 49093575 single base substitution C T intron_variant ESAD-UK 13 49094159 49094159 single base substitution A G intron_variant ESAD-UK 13 49095007 49095007 single base substitution A C intron_variant ESAD-UK 13 49098065 49098065 single base substitution A T intron_variant ESAD-UK 13 49098106 49098106 single base substitution G A intron_variant ESAD-UK 13 49101075 49101075 deletion of <=200bp T - intron_variant ESAD-UK 13 49105292 49105292 single base substitution G C intron_variant ESAD-UK 13 49106535 49106535 single base substitution C T intron_variant ESAD-UK 13 49106805 49106805 single base substitution T C intron_variant ESAD-UK 13 49107372 49107372 single base substitution C A upstream_gene_variant ESAD-UK 13 49107658 49107658 single base substitution C T upstream_gene_variant ESAD-UK 13 49108557 49108557 single base substitution A G upstream_gene_variant ESAD-UK 13 49109249 49109249 single base substitution C T upstream_gene_variant ESAD-UK 13 49110392 49110392 single base substitution G A upstream_gene_variant ESCA-CN 13 49070345 49070345 single base substitution C T synonymous_variant A225A 675G>A ESCA-CN 13 49070345 49070345 single base substitution C T synonymous_variant A499A 1497G>A ESCA-CN 13 49070345 49070345 single base substitution C T synonymous_variant A504A 1512G>A ESCA-CN 13 49070345 49070345 single base substitution C T upstream_gene_variant ESCA-CN 13 49075957 49075957 single base substitution C G downstream_gene_variant ESCA-CN 13 49075957 49075957 single base substitution C G missense_variant D115H 343G>C ESCA-CN 13 49075957 49075957 single base substitution C G missense_variant D389H 1165G>C ESCA-CN 13 49075957 49075957 single base substitution C G missense_variant D394H 1180G>C ESCA-CN 13 49077010 49077010 single base substitution C T missense_variant A323T 967G>A ESCA-CN 13 49077010 49077010 single base substitution C T missense_variant A328T 982G>A ESCA-CN 13 49077010 49077010 single base substitution C T missense_variant A49T 145G>A ESCA-CN 13 49077010 49077010 single base substitution C T missense_variant C251Y 752G>A ESCA-CN 13 49089621 49089621 deletion of <=200bp T - intron_variant GBM-US 13 49070369 49070369 single base substitution A T missense_variant N217K 651T>A GBM-US 13 49070369 49070369 single base substitution A T missense_variant N491K 1473T>A GBM-US 13 49070369 49070369 single base substitution A T missense_variant N496K 1488T>A GBM-US 13 49070369 49070369 single base substitution A T upstream_gene_variant GBM-US 13 49089796 49089796 single base substitution G C 5_prime_UTR_variant GBM-US 13 49089796 49089796 single base substitution G C exon_variant GBM-US 13 49089796 49089796 single base substitution G C missense_variant L18V 52C>G GBM-US 13 49089796 49089796 single base substitution G C missense_variant L42V 124C>G GBM-US 13 49089796 49089796 single base substitution G C missense_variant L47V 139C>G KIRC-US 13 49084795 49084795 single base substitution T A downstream_gene_variant KIRC-US 13 49084795 49084795 single base substitution T A intron_variant KIRC-US 13 49084795 49084795 single base substitution T A missense_variant Y299F 896A>T KIRC-US 13 49084795 49084795 single base substitution T A missense_variant Y304F 911A>T KIRC-US 13 49086880 49086880 single base substitution T C exon_variant KIRC-US 13 49086880 49086880 single base substitution T C intron_variant KIRC-US 13 49086880 49086880 single base substitution T C synonymous_variant L143L 429A>G KIRC-US 13 49086880 49086880 single base substitution T C synonymous_variant L167L 501A>G KIRC-US 13 49086880 49086880 single base substitution T C synonymous_variant L172L 516A>G LAML-KR 13 49089189 49089189 single base substitution C T intron_variant LAML-KR 13 49096022 49096022 single base substitution T C intron_variant LGG-US 13 49070412 49070412 single base substitution T C missense_variant K203R 608A>G LGG-US 13 49070412 49070412 single base substitution T C missense_variant K477R 1430A>G LGG-US 13 49070412 49070412 single base substitution T C missense_variant K482R 1445A>G LGG-US 13 49070412 49070412 single base substitution T C upstream_gene_variant LICA-CN 13 49076887 49076887 single base substitution C G 3_prime_UTR_variant LICA-CN 13 49076887 49076887 single base substitution C G missense_variant A364P 1090G>C LICA-CN 13 49076887 49076887 single base substitution C G missense_variant A369P 1105G>C LICA-CN 13 49076887 49076887 single base substitution C G missense_variant A90P 268G>C LICA-CN 13 49086923 49086923 single base substitution T A exon_variant LICA-CN 13 49086923 49086923 single base substitution T A intron_variant LICA-CN 13 49086923 49086923 single base substitution T A missense_variant Q129L 386A>T LICA-CN 13 49086923 49086923 single base substitution T A missense_variant Q153L 458A>T LICA-CN 13 49086923 49086923 single base substitution T A missense_variant Q158L 473A>T LICA-FR 13 49067880 49067880 single base substitution C T intron_variant LICA-FR 13 49067880 49067880 single base substitution C T upstream_gene_variant LICA-FR 13 49073304 49073304 single base substitution T A downstream_gene_variant LICA-FR 13 49073304 49073304 single base substitution T A intron_variant LICA-FR 13 49077046 49077046 single base substitution T C missense_variant I311V 931A>G LICA-FR 13 49077046 49077046 single base substitution T C missense_variant I316V 946A>G LICA-FR 13 49077046 49077046 single base substitution T C missense_variant I37V 109A>G LICA-FR 13 49077046 49077046 single base substitution T C missense_variant Y239C 716A>G LICA-FR 13 49086298 49086298 single base substitution C T exon_variant LICA-FR 13 49086298 49086298 single base substitution C T intron_variant LICA-FR 13 49086298 49086298 single base substitution C T missense_variant G153S 457G>A LICA-FR 13 49086298 49086298 single base substitution C T missense_variant G177S 529G>A LICA-FR 13 49086298 49086298 single base substitution C T missense_variant G182S 544G>A LICA-FR 13 49097089 49097089 single base substitution A T intron_variant LIHC-US 13 49073784 49073784 single base substitution T C downstream_gene_variant LIHC-US 13 49073784 49073784 single base substitution T C missense_variant I179V 535A>G LIHC-US 13 49073784 49073784 single base substitution T C missense_variant I453V 1357A>G LIHC-US 13 49073784 49073784 single base substitution T C missense_variant I458V 1372A>G LIHC-US 13 49073817 49073817 single base substitution G A downstream_gene_variant LIHC-US 13 49073817 49073817 single base substitution G A missense_variant R168W 502C>T LIHC-US 13 49073817 49073817 single base substitution G A missense_variant R442W 1324C>T LIHC-US 13 49073817 49073817 single base substitution G A missense_variant R447W 1339C>T LINC-JP 13 49073863 49073863 single base substitution G A downstream_gene_variant LINC-JP 13 49073863 49073863 single base substitution G A synonymous_variant N152N 456C>T LINC-JP 13 49073863 49073863 single base substitution G A synonymous_variant N426N 1278C>T LINC-JP 13 49073863 49073863 single base substitution G A synonymous_variant N431N 1293C>T LINC-JP 13 49086936 49086936 single base substitution G C exon_variant LINC-JP 13 49086936 49086936 single base substitution G C intron_variant LINC-JP 13 49086936 49086936 single base substitution G C missense_variant L125V 373C>G LINC-JP 13 49086936 49086936 single base substitution G C missense_variant L149V 445C>G LINC-JP 13 49086936 49086936 single base substitution G C missense_variant L154V 460C>G LINC-JP 13 49086958 49086958 single base substitution C A exon_variant LINC-JP 13 49086958 49086958 single base substitution C A intron_variant LINC-JP 13 49086958 49086958 single base substitution C A synonymous_variant V117V 351G>T LINC-JP 13 49086958 49086958 single base substitution C A synonymous_variant V141V 423G>T LINC-JP 13 49086958 49086958 single base substitution C A synonymous_variant V146V 438G>T LIRI-JP 13 49058190 49058190 single base substitution C G downstream_gene_variant LIRI-JP 13 49058372 49058372 single base substitution C T downstream_gene_variant LIRI-JP 13 49059389 49059389 single base substitution G A downstream_gene_variant LIRI-JP 13 49063476 49063476 single base substitution C T 3_prime_UTR_variant LIRI-JP 13 49063476 49063476 single base substitution C T downstream_gene_variant LIRI-JP 13 49074364 49074364 single base substitution G A downstream_gene_variant LIRI-JP 13 49074364 49074364 single base substitution G A intron_variant LIRI-JP 13 49077014 49077014 single base substitution C T missense_variant V250I 748G>A LIRI-JP 13 49077014 49077014 single base substitution C T synonymous_variant T321T 963G>A LIRI-JP 13 49077014 49077014 single base substitution C T synonymous_variant T326T 978G>A LIRI-JP 13 49077014 49077014 single base substitution C T synonymous_variant T47T 141G>A LIRI-JP 13 49077482 49077482 insertion of <=200bp - T intron_variant LIRI-JP 13 49080743 49080743 single base substitution T C intron_variant LIRI-JP 13 49083583 49083583 single base substitution G A downstream_gene_variant LIRI-JP 13 49083583 49083583 single base substitution G A intron_variant LIRI-JP 13 49083880 49083880 single base substitution T C downstream_gene_variant LIRI-JP 13 49083880 49083880 single base substitution T C intron_variant LIRI-JP 13 49084721 49084721 single base substitution A G downstream_gene_variant LIRI-JP 13 49084721 49084721 single base substitution A G intron_variant LIRI-JP 13 49088664 49088664 single base substitution A G intron_variant LIRI-JP 13 49089846 49089846 single base substitution A G 5_prime_UTR_variant LIRI-JP 13 49089846 49089846 single base substitution A G exon_variant LIRI-JP 13 49089846 49089846 single base substitution A G missense_variant M25T 74T>C LIRI-JP 13 49089846 49089846 single base substitution A G missense_variant M30T 89T>C LIRI-JP 13 49089846 49089846 single base substitution A G start_lost M1T 2T>C LIRI-JP 13 49094657 49094679 deletion of <=200bp CTTTTCTCACATCTAGTCCACCT - intron_variant LIRI-JP 13 49096237 49096237 single base substitution T A intron_variant LIRI-JP 13 49097080 49097080 single base substitution T C intron_variant LIRI-JP 13 49100842 49100842 single base substitution G A intron_variant LIRI-JP 13 49101789 49101789 single base substitution T A intron_variant LIRI-JP 13 49103534 49103534 single base substitution T A intron_variant LIRI-JP 13 49105116 49105116 single base substitution A G intron_variant LIRI-JP 13 49108912 49108912 single base substitution G T upstream_gene_variant LIRI-JP 13 49109961 49109961 single base substitution C T upstream_gene_variant LUSC-KR 13 49066102 49066102 single base substitution T C intron_variant LUSC-KR 13 49069890 49069890 single base substitution G A intron_variant LUSC-KR 13 49069890 49069890 single base substitution G A upstream_gene_variant LUSC-KR 13 49071241 49071241 single base substitution G C intron_variant LUSC-KR 13 49071241 49071241 single base substitution G C upstream_gene_variant LUSC-KR 13 49073280 49073280 single base substitution T A downstream_gene_variant LUSC-KR 13 49073280 49073280 single base substitution T A intron_variant LUSC-KR 13 49077215 49077215 single base substitution C A intron_variant LUSC-KR 13 49088385 49088385 single base substitution T A intron_variant LUSC-KR 13 49089109 49089109 single base substitution G A intron_variant LUSC-KR 13 49099989 49099989 single base substitution T C intron_variant LUSC-KR 13 49100962 49100962 single base substitution G C intron_variant LUSC-KR 13 49106344 49106344 single base substitution C A intron_variant LUSC-KR 13 49107056 49107056 single base substitution G T intron_variant LUSC-KR 13 49109058 49109058 single base substitution C G upstream_gene_variant LUSC-KR 13 49111888 49111888 single base substitution A T upstream_gene_variant LUSC-US 13 49084844 49084844 single base substitution C T downstream_gene_variant LUSC-US 13 49084844 49084844 single base substitution C T intron_variant LUSC-US 13 49084844 49084844 single base substitution C T missense_variant A283T 847G>A LUSC-US 13 49084844 49084844 single base substitution C T missense_variant A288T 862G>A LUSC-US 13 49085987 49085987 single base substitution G A downstream_gene_variant LUSC-US 13 49085987 49085987 single base substitution G A missense_variant T8M 23C>T LUSC-US 13 49085987 49085987 single base substitution G A synonymous_variant N210N 630C>T LUSC-US 13 49085987 49085987 single base substitution G A synonymous_variant N234N 702C>T LUSC-US 13 49085987 49085987 single base substitution G A synonymous_variant N239N 717C>T LUSC-US 13 49096059 49096059 single base substitution G T intron_variant LUSC-US 13 49096059 49096059 single base substitution G T missense_variant P6H 17C>A MALY-DE 13 49061477 49061477 single base substitution G A downstream_gene_variant MALY-DE 13 49065710 49065710 single base substitution G C intron_variant MALY-DE 13 49066945 49066945 single base substitution G C intron_variant MALY-DE 13 49066945 49066945 single base substitution G C upstream_gene_variant MALY-DE 13 49073402 49073402 single base substitution A C downstream_gene_variant MALY-DE 13 49073402 49073402 single base substitution A C intron_variant MALY-DE 13 49073785 49073785 single base substitution G T downstream_gene_variant MALY-DE 13 49073785 49073785 single base substitution G T missense_variant S178R 534C>A MALY-DE 13 49073785 49073785 single base substitution G T missense_variant S452R 1356C>A MALY-DE 13 49073785 49073785 single base substitution G T missense_variant S457R 1371C>A MALY-DE 13 49076113 49076113 single base substitution A C downstream_gene_variant MALY-DE 13 49076113 49076113 single base substitution A C intron_variant MALY-DE 13 49077078 49077078 single base substitution G C intron_variant MALY-DE 13 49085301 49085301 single base substitution T C downstream_gene_variant MALY-DE 13 49085301 49085301 single base substitution T C intron_variant MALY-DE 13 49089691 49089691 single base substitution T C intron_variant MALY-DE 13 49101563 49101563 single base substitution C T intron_variant MALY-DE 13 49107046 49107046 single base substitution C G intron_variant MALY-DE 13 49107279 49107279 single base substitution G A 5_prime_UTR_premature_start_codon_gain_variant MALY-DE 13 49107279 49107279 single base substitution G A exon_variant MALY-DE 13 49107279 49107279 single base substitution G A upstream_gene_variant MALY-DE 13 49110439 49110439 single base substitution C T upstream_gene_variant MELA-AU 13 49059969 49059969 single base substitution G A downstream_gene_variant MELA-AU 13 49060703 49060703 single base substitution G A downstream_gene_variant MELA-AU 13 49060735 49060735 single base substitution G A downstream_gene_variant MELA-AU 13 49063499 49063499 single base substitution A G 3_prime_UTR_variant MELA-AU 13 49063499 49063499 single base substitution A G downstream_gene_variant MELA-AU 13 49064484 49064484 single base substitution G A intron_variant MELA-AU 13 49064746 49064746 single base substitution C T intron_variant MELA-AU 13 49064976 49064976 single base substitution G A intron_variant MELA-AU 13 49065505 49065505 single base substitution G A intron_variant MELA-AU 13 49065996 49065996 single base substitution C T intron_variant MELA-AU 13 49066370 49066370 single base substitution G A intron_variant MELA-AU 13 49067332 49067332 single base substitution G A intron_variant MELA-AU 13 49067332 49067332 single base substitution G A upstream_gene_variant MELA-AU 13 49068188 49068188 single base substitution C T intron_variant MELA-AU 13 49068188 49068188 single base substitution C T upstream_gene_variant MELA-AU 13 49068970 49068970 single base substitution G A intron_variant MELA-AU 13 49068970 49068970 single base substitution G A upstream_gene_variant MELA-AU 13 49069743 49069743 single base substitution G A intron_variant MELA-AU 13 49069743 49069743 single base substitution G A upstream_gene_variant MELA-AU 13 49069843 49069843 single base substitution C T intron_variant MELA-AU 13 49069843 49069843 single base substitution C T upstream_gene_variant MELA-AU 13 49070085 49070085 single base substitution G A intron_variant MELA-AU 13 49070085 49070085 single base substitution G A upstream_gene_variant MELA-AU 13 49070666 49070666 single base substitution C T intron_variant MELA-AU 13 49070666 49070666 single base substitution C T upstream_gene_variant MELA-AU 13 49070699 49070699 single base substitution A G intron_variant MELA-AU 13 49070699 49070699 single base substitution A G upstream_gene_variant MELA-AU 13 49071904 49071904 single base substitution T A downstream_gene_variant MELA-AU 13 49071904 49071904 single base substitution T A intron_variant MELA-AU 13 49072336 49072336 single base substitution T C downstream_gene_variant MELA-AU 13 49072336 49072336 single base substitution T C intron_variant MELA-AU 13 49073304 49073304 single base substitution T A downstream_gene_variant MELA-AU 13 49073304 49073304 single base substitution T A intron_variant MELA-AU 13 49073313 49073313 single base substitution C A downstream_gene_variant MELA-AU 13 49073313 49073313 single base substitution C A intron_variant MELA-AU 13 49073748 49073748 single base substitution G A downstream_gene_variant MELA-AU 13 49073748 49073748 single base substitution G A intron_variant MELA-AU 13 49074588 49074589 multiple base substitution (>=2bp and <=200bp) GG AA downstream_gene_variant MELA-AU 13 49074588 49074589 multiple base substitution (>=2bp and <=200bp) GG AA intron_variant MELA-AU 13 49074660 49074660 single base substitution C T downstream_gene_variant MELA-AU 13 49074660 49074660 single base substitution C T intron_variant MELA-AU 13 49075457 49075457 single base substitution G A downstream_gene_variant MELA-AU 13 49075457 49075457 single base substitution G A intron_variant MELA-AU 13 49075480 49075480 single base substitution A G downstream_gene_variant MELA-AU 13 49075480 49075480 single base substitution A G intron_variant MELA-AU 13 49075993 49075993 single base substitution G A downstream_gene_variant MELA-AU 13 49075993 49075993 single base substitution G A missense_variant H103Y 307C>T MELA-AU 13 49075993 49075993 single base substitution G A missense_variant H377Y 1129C>T MELA-AU 13 49075993 49075993 single base substitution G A missense_variant H382Y 1144C>T MELA-AU 13 49076072 49076072 single base substitution G A downstream_gene_variant MELA-AU 13 49076072 49076072 single base substitution G A intron_variant MELA-AU 13 49076107 49076107 single base substitution C T downstream_gene_variant MELA-AU 13 49076107 49076107 single base substitution C T intron_variant MELA-AU 13 49076612 49076612 single base substitution G A downstream_gene_variant MELA-AU 13 49076612 49076612 single base substitution G A intron_variant MELA-AU 13 49076965 49076966 multiple base substitution (>=2bp and <=200bp) GG AA missense_variant CR337CW MELA-AU 13 49076965 49076966 multiple base substitution (>=2bp and <=200bp) GG AA missense_variant CR342CW MELA-AU 13 49076965 49076966 multiple base substitution (>=2bp and <=200bp) GG AA missense_variant CR63CW MELA-AU 13 49076965 49076966 multiple base substitution (>=2bp and <=200bp) GG AA missense_variant P266L 796CC>TT MELA-AU 13 49077172 49077172 single base substitution G A intron_variant MELA-AU 13 49077825 49077825 single base substitution C A intron_variant MELA-AU 13 49078061 49078061 single base substitution A G intron_variant MELA-AU 13 49078191 49078191 single base substitution C A intron_variant MELA-AU 13 49079345 49079345 single base substitution G C intron_variant MELA-AU 13 49079612 49079612 single base substitution G A intron_variant MELA-AU 13 49080092 49080092 single base substitution G A intron_variant MELA-AU 13 49080166 49080166 single base substitution G A intron_variant MELA-AU 13 49080383 49080383 deletion of <=200bp G - intron_variant MELA-AU 13 49082432 49082432 single base substitution G A downstream_gene_variant MELA-AU 13 49082432 49082432 single base substitution G A intron_variant MELA-AU 13 49082479 49082479 single base substitution A G downstream_gene_variant MELA-AU 13 49082479 49082479 single base substitution A G intron_variant MELA-AU 13 49082642 49082642 single base substitution G A downstream_gene_variant MELA-AU 13 49082642 49082642 single base substitution G A intron_variant MELA-AU 13 49083131 49083131 single base substitution G A downstream_gene_variant MELA-AU 13 49083131 49083131 single base substitution G A intron_variant MELA-AU 13 49083389 49083389 single base substitution G A downstream_gene_variant MELA-AU 13 49083389 49083389 single base substitution G A intron_variant MELA-AU 13 49083486 49083486 single base substitution G A downstream_gene_variant MELA-AU 13 49083486 49083486 single base substitution G A intron_variant MELA-AU 13 49084254 49084254 single base substitution A T downstream_gene_variant MELA-AU 13 49084254 49084254 single base substitution A T intron_variant MELA-AU 13 49084911 49084911 single base substitution G A downstream_gene_variant MELA-AU 13 49084911 49084911 single base substitution G A intron_variant MELA-AU 13 49084911 49084911 single base substitution G A splice_region_variant MELA-AU 13 49084991 49084991 single base substitution G A downstream_gene_variant MELA-AU 13 49084991 49084991 single base substitution G A intron_variant MELA-AU 13 49085614 49085614 single base substitution G A downstream_gene_variant MELA-AU 13 49085614 49085614 single base substitution G A intron_variant MELA-AU 13 49086897 49086897 single base substitution A G exon_variant MELA-AU 13 49086897 49086897 single base substitution A G intron_variant MELA-AU 13 49086897 49086897 single base substitution A G missense_variant Y138H 412T>C MELA-AU 13 49086897 49086897 single base substitution A G missense_variant Y162H 484T>C MELA-AU 13 49086897 49086897 single base substitution A G missense_variant Y167H 499T>C MELA-AU 13 49087085 49087085 single base substitution G A intron_variant MELA-AU 13 49087365 49087365 single base substitution C T intron_variant MELA-AU 13 49087400 49087400 single base substitution G A intron_variant MELA-AU 13 49088910 49088910 single base substitution G A intron_variant MELA-AU 13 49089023 49089023 single base substitution G A intron_variant MELA-AU 13 49089422 49089422 single base substitution G A 5_prime_UTR_premature_start_codon_gain_variant MELA-AU 13 49089422 49089422 single base substitution G A exon_variant MELA-AU 13 49089422 49089422 single base substitution G A missense_variant R66W 196C>T MELA-AU 13 49089422 49089422 single base substitution G A missense_variant R90W 268C>T MELA-AU 13 49089422 49089422 single base substitution G A missense_variant R95W 283C>T MELA-AU 13 49090429 49090429 single base substitution G A intron_variant MELA-AU 13 49090668 49090668 single base substitution C T intron_variant MELA-AU 13 49090980 49090980 single base substitution C T intron_variant MELA-AU 13 49092043 49092043 single base substitution G A intron_variant MELA-AU 13 49092154 49092154 single base substitution G T intron_variant MELA-AU 13 49092608 49092608 single base substitution A T intron_variant MELA-AU 13 49093763 49093763 single base substitution T C intron_variant MELA-AU 13 49095228 49095228 single base substitution G A intron_variant MELA-AU 13 49095658 49095658 single base substitution G A intron_variant MELA-AU 13 49095712 49095712 single base substitution G A intron_variant MELA-AU 13 49096020 49096020 single base substitution G A intron_variant MELA-AU 13 49096104 49096104 single base substitution G A intron_variant MELA-AU 13 49096104 49096104 single base substitution G A splice_region_variant MELA-AU 13 49096240 49096240 single base substitution G A intron_variant MELA-AU 13 49096572 49096572 single base substitution G A intron_variant MELA-AU 13 49096621 49096621 single base substitution G A intron_variant MELA-AU 13 49098651 49098651 single base substitution G A intron_variant MELA-AU 13 49099192 49099192 single base substitution C T intron_variant MELA-AU 13 49099209 49099209 single base substitution G A intron_variant MELA-AU 13 49100079 49100079 single base substitution G A intron_variant MELA-AU 13 49100222 49100222 single base substitution G T intron_variant MELA-AU 13 49100322 49100322 single base substitution T A intron_variant MELA-AU 13 49101159 49101159 single base substitution A T intron_variant MELA-AU 13 49102429 49102429 single base substitution G A intron_variant MELA-AU 13 49103471 49103471 single base substitution G A intron_variant MELA-AU 13 49103827 49103827 single base substitution G A intron_variant MELA-AU 13 49105006 49105006 single base substitution A C intron_variant MELA-AU 13 49105572 49105573 multiple base substitution (>=2bp and <=200bp) GG AA intron_variant MELA-AU 13 49106124 49106124 single base substitution G A intron_variant MELA-AU 13 49106919 49106919 single base substitution C T intron_variant MELA-AU 13 49107447 49107447 single base substitution C T upstream_gene_variant MELA-AU 13 49107469 49107469 single base substitution C T upstream_gene_variant MELA-AU 13 49107697 49107697 single base substitution A G upstream_gene_variant MELA-AU 13 49107894 49107894 single base substitution A C upstream_gene_variant MELA-AU 13 49108578 49108578 single base substitution G A upstream_gene_variant MELA-AU 13 49108673 49108674 multiple base substitution (>=2bp and <=200bp) CC TT upstream_gene_variant MELA-AU 13 49108782 49108782 single base substitution C T upstream_gene_variant MELA-AU 13 49109543 49109543 single base substitution C T upstream_gene_variant MELA-AU 13 49109617 49109618 multiple base substitution (>=2bp and <=200bp) CC TT upstream_gene_variant MELA-AU 13 49109740 49109740 single base substitution C T upstream_gene_variant MELA-AU 13 49109793 49109793 single base substitution C T upstream_gene_variant MELA-AU 13 49109924 49109924 single base substitution C T upstream_gene_variant MELA-AU 13 49110117 49110117 single base substitution C T upstream_gene_variant MELA-AU 13 49110293 49110293 single base substitution G A upstream_gene_variant MELA-AU 13 49110297 49110297 single base substitution A G upstream_gene_variant MELA-AU 13 49110875 49110875 single base substitution G A upstream_gene_variant MELA-AU 13 49111377 49111377 single base substitution C T upstream_gene_variant MELA-AU 13 49111868 49111868 single base substitution G A upstream_gene_variant MELA-AU 13 49111993 49111993 single base substitution G A upstream_gene_variant ORCA-IN 13 49082790 49082790 single base substitution T C downstream_gene_variant ORCA-IN 13 49082790 49082790 single base substitution T C intron_variant ORCA-IN 13 49084197 49084197 single base substitution C G downstream_gene_variant ORCA-IN 13 49084197 49084197 single base substitution C G intron_variant ORCA-IN 13 49089981 49089981 single base substitution C A intron_variant ORCA-IN 13 49097828 49097828 single base substitution G A intron_variant ORCA-IN 13 49111226 49111226 single base substitution A G upstream_gene_variant OV-AU 13 49059920 49059920 single base substitution G A downstream_gene_variant OV-AU 13 49060373 49060373 single base substitution A G downstream_gene_variant OV-AU 13 49062332 49062332 single base substitution G T downstream_gene_variant OV-AU 13 49064294 49064294 single base substitution T A exon_variant OV-AU 13 49064294 49064294 single base substitution T A stop_gained K263* 787A>T OV-AU 13 49064294 49064294 single base substitution T A stop_gained K537* 1609A>T OV-AU 13 49064294 49064294 single base substitution T A stop_gained K542* 1624A>T OV-AU 13 49080467 49080467 single base substitution A T intron_variant OV-AU 13 49083160 49083160 single base substitution G A downstream_gene_variant OV-AU 13 49083160 49083160 single base substitution G A intron_variant OV-AU 13 49087041 49087041 single base substitution A T intron_variant OV-AU 13 49094873 49094873 single base substitution A G intron_variant OV-AU 13 49099560 49099560 single base substitution T A intron_variant OV-AU 13 49102017 49102017 single base substitution C T intron_variant OV-AU 13 49106829 49106829 single base substitution G A intron_variant OV-AU 13 49106872 49106872 single base substitution C A intron_variant OV-AU 13 49109547 49109547 single base substitution A G upstream_gene_variant PACA-AU 13 49059562 49059562 single base substitution C T downstream_gene_variant PACA-AU 13 49059941 49059941 single base substitution G A downstream_gene_variant PACA-AU 13 49062618 49062618 single base substitution G T downstream_gene_variant PACA-AU 13 49071761 49071761 single base substitution C G intron_variant PACA-AU 13 49071850 49071850 single base substitution C G intron_variant PACA-AU 13 49078860 49078860 single base substitution C T intron_variant PACA-AU 13 49093556 49093556 single base substitution C G intron_variant PACA-AU 13 49104204 49104204 single base substitution G C intron_variant PACA-AU 13 49105636 49105639 deletion of <=200bp TAAA - intron_variant PACA-CA 13 49062885 49062885 single base substitution T C downstream_gene_variant PACA-CA 13 49064290 49064290 single base substitution T A exon_variant PACA-CA 13 49064290 49064290 single base substitution T A missense_variant N264I 791A>T PACA-CA 13 49064290 49064290 single base substitution T A missense_variant N538I 1613A>T PACA-CA 13 49064290 49064290 single base substitution T A missense_variant N543I 1628A>T PACA-CA 13 49067453 49067453 single base substitution T A intron_variant PACA-CA 13 49067453 49067453 single base substitution T A upstream_gene_variant PACA-CA 13 49071442 49071442 single base substitution G A intron_variant PACA-CA 13 49071442 49071442 single base substitution G A upstream_gene_variant PACA-CA 13 49073278 49073278 single base substitution A T downstream_gene_variant PACA-CA 13 49073278 49073278 single base substitution A T intron_variant PACA-CA 13 49073304 49073304 single base substitution T A downstream_gene_variant PACA-CA 13 49073304 49073304 single base substitution T A intron_variant PACA-CA 13 49073554 49073554 single base substitution G A downstream_gene_variant PACA-CA 13 49073554 49073554 single base substitution G A intron_variant PACA-CA 13 49074468 49074468 single base substitution G A downstream_gene_variant PACA-CA 13 49074468 49074468 single base substitution G A intron_variant PACA-CA 13 49076287 49076287 single base substitution C T downstream_gene_variant PACA-CA 13 49076287 49076287 single base substitution C T intron_variant PACA-CA 13 49081266 49081266 single base substitution C T intron_variant PACA-CA 13 49081613 49081613 deletion of <=200bp A - downstream_gene_variant PACA-CA 13 49081613 49081613 deletion of <=200bp A - intron_variant PACA-CA 13 49085742 49085742 single base substitution G C downstream_gene_variant PACA-CA 13 49085742 49085742 single base substitution G C intron_variant PACA-CA 13 49092608 49092608 single base substitution A T intron_variant PACA-CA 13 49106845 49106845 single base substitution G A intron_variant PACA-CA 13 49108986 49108986 single base substitution G T upstream_gene_variant PACA-CA 13 49109583 49109583 single base substitution G T upstream_gene_variant PACA-CA 13 49109630 49109630 deletion of <=200bp G - upstream_gene_variant PACA-CA 13 49110417 49110417 single base substitution A T upstream_gene_variant PAEN-IT 13 49080161 49080161 single base substitution C G intron_variant PBCA-DE 13 49060792 49060792 insertion of <=200bp - T downstream_gene_variant PBCA-DE 13 49067362 49067363 deletion of <=200bp CA - intron_variant PBCA-DE 13 49067362 49067363 deletion of <=200bp CA - upstream_gene_variant PBCA-DE 13 49081090 49081090 single base substitution G A intron_variant PBCA-DE 13 49084213 49084213 single base substitution C A downstream_gene_variant PBCA-DE 13 49084213 49084213 single base substitution C A intron_variant PBCA-DE 13 49084904 49084904 single base substitution C T downstream_gene_variant PBCA-DE 13 49084904 49084904 single base substitution C T intron_variant PBCA-DE 13 49084904 49084904 single base substitution C T missense_variant A263T 787G>A PBCA-DE 13 49084904 49084904 single base substitution C T missense_variant A268T 802G>A PBCA-DE 13 49090233 49090234 deletion of <=200bp AG - intron_variant PBCA-DE 13 49092608 49092608 single base substitution A T intron_variant PBCA-DE 13 49103389 49103389 insertion of <=200bp - A intron_variant PBCA-DE 13 49108846 49108846 single base substitution C T upstream_gene_variant PRAD-CA 13 49067451 49067451 single base substitution A T intron_variant PRAD-CA 13 49067451 49067451 single base substitution A T upstream_gene_variant PRAD-CA 13 49073280 49073280 single base substitution T A downstream_gene_variant PRAD-CA 13 49073280 49073280 single base substitution T A intron_variant PRAD-CA 13 49084929 49084929 single base substitution C G downstream_gene_variant PRAD-CA 13 49084929 49084929 single base substitution C G intron_variant PRAD-CA 13 49095557 49095557 single base substitution G A intron_variant PRAD-CA 13 49101237 49101237 single base substitution C T intron_variant PRAD-CA 13 49101465 49101465 single base substitution A T intron_variant PRAD-UK 13 49067602 49067602 single base substitution A T intron_variant PRAD-UK 13 49067602 49067602 single base substitution A T upstream_gene_variant PRAD-UK 13 49070185 49070185 single base substitution T C intron_variant PRAD-UK 13 49070185 49070185 single base substitution T C upstream_gene_variant PRAD-UK 13 49096979 49096979 single base substitution G A intron_variant PRAD-UK 13 49100677 49100680 deletion of <=200bp AAAT - intron_variant PRAD-UK 13 49102874 49102874 single base substitution T C intron_variant PRAD-UK 13 49110029 49110029 single base substitution T G upstream_gene_variant PRAD-UK 13 49111391 49111391 single base substitution T C upstream_gene_variant PRAD-US 13 49076874 49076874 single base substitution C A downstream_gene_variant PRAD-US 13 49076874 49076874 single base substitution C A missense_variant R368L 1103G>T PRAD-US 13 49076874 49076874 single base substitution C A missense_variant R373L 1118G>T PRAD-US 13 49076874 49076874 single base substitution C A missense_variant R94L 281G>T READ-US 13 49075883 49075883 single base substitution C A downstream_gene_variant READ-US 13 49075883 49075883 single base substitution C A missense_variant K139N 417G>T READ-US 13 49075883 49075883 single base substitution C A missense_variant K413N 1239G>T READ-US 13 49075883 49075883 single base substitution C A missense_variant K418N 1254G>T SKCA-BR 13 49058277 49058277 single base substitution C T downstream_gene_variant SKCA-BR 13 49064726 49064726 single base substitution T C intron_variant SKCA-BR 13 49067449 49067449 insertion of <=200bp - ACTCTCTCT intron_variant SKCA-BR 13 49067449 49067449 insertion of <=200bp - ACTCTCTCT upstream_gene_variant SKCA-BR 13 49073278 49073280 deletion of <=200bp ACT - downstream_gene_variant SKCA-BR 13 49073278 49073280 deletion of <=200bp ACT - intron_variant SKCA-BR 13 49073417 49073417 single base substitution G A downstream_gene_variant SKCA-BR 13 49073417 49073417 single base substitution G A intron_variant SKCA-BR 13 49073486 49073486 single base substitution G A downstream_gene_variant SKCA-BR 13 49073486 49073486 single base substitution G A intron_variant SKCA-BR 13 49076011 49076011 single base substitution G A downstream_gene_variant SKCA-BR 13 49076011 49076011 single base substitution G A splice_region_variant SKCA-BR 13 49076935 49076935 single base substitution T G missense_variant H276P 827A>C SKCA-BR 13 49076935 49076935 single base substitution T G missense_variant T348P 1042A>C SKCA-BR 13 49076935 49076935 single base substitution T G missense_variant T353P 1057A>C SKCA-BR 13 49076935 49076935 single base substitution T G missense_variant T74P 220A>C SKCA-BR 13 49082850 49082852 deletion of <=200bp AAC - downstream_gene_variant SKCA-BR 13 49082850 49082852 deletion of <=200bp AAC - intron_variant SKCA-BR 13 49086325 49086325 single base substitution G A intron_variant SKCA-BR 13 49097067 49097067 single base substitution G A intron_variant SKCA-BR 13 49099486 49099486 single base substitution T A intron_variant SKCA-BR 13 49101477 49101477 insertion of <=200bp - TATATATG intron_variant SKCA-BR 13 49101847 49101847 single base substitution A T intron_variant SKCA-BR 13 49107073 49107073 single base substitution A G intron_variant SKCA-BR 13 49109376 49109376 single base substitution C T upstream_gene_variant SKCA-BR 13 49109536 49109536 single base substitution T G upstream_gene_variant SKCA-BR 13 49109553 49109553 single base substitution A C upstream_gene_variant SKCA-BR 13 49112041 49112041 single base substitution C T upstream_gene_variant SKCA-BR 13 49112236 49112236 single base substitution G A upstream_gene_variant SKCM-US 13 49073831 49073831 single base substitution G A downstream_gene_variant SKCM-US 13 49073831 49073831 single base substitution G A missense_variant S163L 488C>T SKCM-US 13 49073831 49073831 single base substitution G A missense_variant S437L 1310C>T SKCM-US 13 49073831 49073831 single base substitution G A missense_variant S442L 1325C>T SKCM-US 13 49073883 49073883 single base substitution G A downstream_gene_variant SKCM-US 13 49073883 49073883 single base substitution G A missense_variant R146C 436C>T SKCM-US 13 49073883 49073883 single base substitution G A missense_variant R420C 1258C>T SKCM-US 13 49073883 49073883 single base substitution G A missense_variant R425C 1273C>T SKCM-US 13 49076948 49076948 single base substitution G A missense_variant P272S 814C>T SKCM-US 13 49076948 49076948 single base substitution G A synonymous_variant I343I 1029C>T SKCM-US 13 49076948 49076948 single base substitution G A synonymous_variant I348I 1044C>T SKCM-US 13 49076948 49076948 single base substitution G A synonymous_variant I69I 207C>T SKCM-US 13 49085947 49085947 single base substitution G A downstream_gene_variant SKCM-US 13 49085947 49085947 single base substitution G A missense_variant P224S 670C>T SKCM-US 13 49085947 49085947 single base substitution G A missense_variant P248S 742C>T SKCM-US 13 49085947 49085947 single base substitution G A missense_variant P253S 757C>T SKCM-US 13 49085947 49085947 single base substitution G A synonymous_variant P21P 63C>T SKCM-US 13 49086897 49086897 single base substitution A G exon_variant SKCM-US 13 49086897 49086897 single base substitution A G intron_variant SKCM-US 13 49086897 49086897 single base substitution A G missense_variant Y138H 412T>C SKCM-US 13 49086897 49086897 single base substitution A G missense_variant Y162H 484T>C SKCM-US 13 49086897 49086897 single base substitution A G missense_variant Y167H 499T>C STAD-US 13 49070346 49070346 single base substitution G A missense_variant A225V 674C>T STAD-US 13 49070346 49070346 single base substitution G A missense_variant A499V 1496C>T STAD-US 13 49070346 49070346 single base substitution G A missense_variant A504V 1511C>T STAD-US 13 49070346 49070346 single base substitution G A upstream_gene_variant STAD-US 13 49076918 49076918 single base substitution A G stop_lost *282R 844T>C STAD-US 13 49076918 49076918 single base substitution A G synonymous_variant T353T 1059T>C STAD-US 13 49076918 49076918 single base substitution A G synonymous_variant T358T 1074T>C STAD-US 13 49076918 49076918 single base substitution A G synonymous_variant T79T 237T>C STAD-US 13 49084763 49084763 single base substitution A G downstream_gene_variant STAD-US 13 49084763 49084763 single base substitution A G intron_variant STAD-US 13 49084763 49084763 single base substitution A G splice_donor_variant STAD-US 13 49084818 49084818 single base substitution A G downstream_gene_variant STAD-US 13 49084818 49084818 single base substitution A G intron_variant STAD-US 13 49084818 49084818 single base substitution A G synonymous_variant T291T 873T>C STAD-US 13 49084818 49084818 single base substitution A G synonymous_variant T296T 888T>C STAD-US 13 49084844 49084844 single base substitution C T downstream_gene_variant STAD-US 13 49084844 49084844 single base substitution C T intron_variant STAD-US 13 49084844 49084844 single base substitution C T missense_variant A283T 847G>A STAD-US 13 49084844 49084844 single base substitution C T missense_variant A288T 862G>A STAD-US 13 49085916 49085916 single base substitution C T downstream_gene_variant STAD-US 13 49085916 49085916 single base substitution C T missense_variant R234H 701G>A STAD-US 13 49085916 49085916 single base substitution C T missense_variant R258H 773G>A STAD-US 13 49085916 49085916 single base substitution C T missense_variant R263H 788G>A STAD-US 13 49085916 49085916 single base substitution C T missense_variant V32M 94G>A STAD-US 13 49089783 49089783 single base substitution C T 5_prime_UTR_variant STAD-US 13 49089783 49089783 single base substitution C T exon_variant STAD-US 13 49089783 49089783 single base substitution C T missense_variant R22H 65G>A STAD-US 13 49089783 49089783 single base substitution C T missense_variant R46H 137G>A STAD-US 13 49089783 49089783 single base substitution C T missense_variant R51H 152G>A THCA-SA 13 49076915 49076915 single base substitution G A 3_prime_UTR_variant THCA-SA 13 49076915 49076915 single base substitution G A synonymous_variant D354D 1062C>T THCA-SA 13 49076915 49076915 single base substitution G A synonymous_variant D359D 1077C>T THCA-SA 13 49076915 49076915 single base substitution G A synonymous_variant D80D 240C>T UCEC-US 13 49070425 49070425 single base substitution T G missense_variant N199H 595A>C UCEC-US 13 49070425 49070425 single base substitution T G missense_variant N473H 1417A>C UCEC-US 13 49070425 49070425 single base substitution T G missense_variant N478H 1432A>C UCEC-US 13 49070425 49070425 single base substitution T G upstream_gene_variant UCEC-US 13 49076986 49076986 single base substitution C T missense_variant R259H 776G>A UCEC-US 13 49076986 49076986 single base substitution C T missense_variant V331M 991G>A UCEC-US 13 49076986 49076986 single base substitution C T missense_variant V336M 1006G>A UCEC-US 13 49076986 49076986 single base substitution C T missense_variant V57M 169G>A UCEC-US 13 49077014 49077014 single base substitution C T missense_variant V250I 748G>A UCEC-US 13 49077014 49077014 single base substitution C T synonymous_variant T321T 963G>A UCEC-US 13 49077014 49077014 single base substitution C T synonymous_variant T326T 978G>A UCEC-US 13 49077014 49077014 single base substitution C T synonymous_variant T47T 141G>A UCEC-US 13 49085932 49085932 single base substitution C A downstream_gene_variant UCEC-US 13 49085932 49085932 single base substitution C A missense_variant A229S 685G>T UCEC-US 13 49085932 49085932 single base substitution C A missense_variant A253S 757G>T UCEC-US 13 49085932 49085932 single base substitution C A missense_variant A258S 772G>T UCEC-US 13 49085932 49085932 single base substitution C A missense_variant Q26H 78G>T UCEC-US 13 49086226 49086226 single base substitution A G 5_prime_UTR_variant UCEC-US 13 49086226 49086226 single base substitution A G downstream_gene_variant UCEC-US 13 49086226 49086226 single base substitution A G missense_variant C177R 529T>C UCEC-US 13 49086226 49086226 single base substitution A G missense_variant C201R 601T>C UCEC-US 13 49086226 49086226 single base substitution A G missense_variant C206R 616T>C UCEC-US 13 49086240 49086240 single base substitution C T 5_prime_UTR_variant UCEC-US 13 49086240 49086240 single base substitution C T downstream_gene_variant UCEC-US 13 49086240 49086240 single base substitution C T missense_variant R172Q 515G>A UCEC-US 13 49086240 49086240 single base substitution C T missense_variant R196Q 587G>A UCEC-US 13 49086240 49086240 single base substitution C T missense_variant R201Q 602G>A UCEC-US 13 49089848 49089848 single base substitution C A 5_prime_UTR_variant UCEC-US 13 49089848 49089848 single base substitution C A exon_variant UCEC-US 13 49089848 49089848 single base substitution C A missense_variant K24N 72G>T UCEC-US 13 49089848 49089848 single base substitution C A missense_variant K29N 87G>T UCEC-US 13 49096035 49096035 single base substitution T C intron_variant UCEC-US 13 49096035 49096035 single base substitution T C missense_variant K14R 41A>G

Mutation - COSMIC Sample Name Mutation ID Mutation CDS Mutation AA Mutation Description Mutation Genome Position Mutation Strand CSCC-44-T COSM4539614 c.270G>A p.R90R Substitution - coding silent 13:48515284-48515284 - TCGA-A6-6781-01 COSM1163704 c.298delA p.I100fs*1 Deletion - Frameshift 13:48515256-48515256 - C135 COSM4617469 c.1085C>T p.T362M Substitution - Missense 13:48502756-48502756 - CHC892T COSM4796627 c.529G>A p.G177S Substitution - Missense 13:48512162-48512162 - TCGA-AP-A0LM-01 COSM947816 c.72G>T p.K24N Substitution - Missense 13:48515712-48515712 - TCGA-EU-5904-01 COSM469483 c.501A>G p.L167L Substitution - coding silent 13:48512744-48512744 - HCC163 COSM3704673 c.445C>G p.L149V Substitution - Missense 13:48512800-48512800 - LP6005500-DNA_E03 COSM5034677 c.97A>T p.I33F Substitution - Missense 13:48515687-48515687 - TCGA-IR-A3LK-01 COSM3936347 c.1165G>C p.D389H Substitution - Missense 13:48501821-48501821 - BD110T COSM3469160 c.1258C>T p.R420C Substitution - Missense 13:48499747-48499747 - TCGA-A6-5665-01 COSM1367330 c.1220C>G p.A407G Substitution - Missense 13:48501766-48501766 - TCGA-HU-A4GQ-01 COSM4047932 c.1496C>T p.A499V Substitution - Missense 13:48496210-48496210 - ESCC_159 COSM5647023 c.805A>T p.T269S Substitution - Missense 13:48510750-48510750 - TCGA-BT-A3PK-01 COSM3793329 c.1600G>A p.D534N Substitution - Missense 13:48490167-48490167 - TCGA-G9-6336-01 COSM1128369 c.1103G>T p.R368L Substitution - Missense 13:48502738-48502738 - PD4107a COSM163972 c.641A>C p.Q214P Substitution - Missense 13:48512050-48512050 - TCGA-HT-7603-01 COSM3968620 c.1430A>G p.K477R Substitution - Missense 13:48496276-48496276 - 1T COSM109152 c.1230C>T p.V410V Substitution - coding silent 13:48501756-48501756 - TCGA-19-2629-01 COSM3399405 c.124C>G p.L42V Substitution - Missense 13:48515660-48515660 - ML_67_T_01 COSM5034351 c.1042A>C p.T348P Substitution - Missense 13:48502799-48502799 - CHC892T COSM4796627 c.529G>A p.G177S Substitution - Missense 13:48512162-48512162 - TCGA-B8-4143-01 COSM469482 c.896A>T p.Y299F Substitution - Missense 13:48510659-48510659 - 2328683 COSM4972150 c.1172C>T p.P391L Substitution - Missense 13:48501814-48501814 - ACINAR01 COSM1163704 c.298delA p.I100fs*1 Deletion - Frameshift 13:48515256-48515256 - T578 COSM4720875 c.403A>C p.T135P Substitution - Missense 13:48512842-48512842 - CACO2 COSM1942486 c.451A>G p.N151D Substitution - Missense 13:48512794-48512794 - TCGA-EB-A431-01 COSM3469160 c.1258C>T p.R420C Substitution - Missense 13:48499747-48499747 - TCGA-BC-A3KF-01 COSM4927854 c.1324C>T p.R442W Substitution - Missense 13:48499681-48499681 - TCGA-32-5222-01 COSM3399404 c.1473T>A p.N491K Substitution - Missense 13:48496233-48496233 - AOCS-135-8-X COSM3957242 c.350-10T>A p.? Unknown 13:48512905-48512905 - TCGA-B5-A11E-01 COSM947817 c.41A>G p.K14R Substitution - Missense 13:48521899-48521899 - TCGA-BR-8372-01 COSM4047934 c.926+2T>C p.? Unknown 13:48510627-48510627 - TCGA-EE-A29M-06 COSM3469159 c.1310C>T p.S437L Substitution - Missense 13:48499695-48499695 - Gp5D COSM1942472 c.1234C>T p.L412F Substitution - Missense 13:48501752-48501752 - T3152 COSM4720874 c.1089C>T p.P363P Substitution - coding silent 13:48502752-48502752 - RK165_C01 COSM1629131 c.74T>C p.M25T Substitution - Missense 13:48515710-48515710 - SNUH_G76_S1 COSM3999106 c.1497G>A p.A499A Substitution - coding silent 13:48496209-48496209 - pfg181T COSM4754760 c.703G>A p.G235R Substitution - Missense 13:48511850-48511850 - TCGA-CM-6162-01 COSM1367331 c.1092C>T p.A364A Substitution - coding silent 13:48502749-48502749 - Gp2D COSM1942472 c.1234C>T p.L412F Substitution - Missense 13:48501752-48501752 - ICGC_PA30 COSM3670129 c.787G>A p.A263T Substitution - Missense 13:48510768-48510768 - 587376 COSM1223441 c.1117+2T>C p.? Unknown 13:48502722-48502722 - CSCC-57-T COSM4457554 c.104C>T p.S35F Substitution - Missense 13:48515680-48515680 - PA285 COSM1163704 c.298delA p.I100fs*1 Deletion - Frameshift 13:48515256-48515256 - HCC160T COSM3704674 c.423G>T p.V141V Substitution - coding silent 13:48512822-48512822 - NCI-H128 COSM18223 c.327A>G p.P109P Substitution - coding silent 13:48515227-48515227 - TCGA-A2-A0EY-01 COSM432462 c.244G>A p.D82N Substitution - Missense 13:48515310-48515310 - PCSI_0060_Pa_X COSM3376565 c.1613A>T p.N538I Substitution - Missense 13:48490154-48490154 - ESCC-184T COSM3936348 c.967G>A p.A323T Substitution - Missense 13:48502874-48502874 - TCGA-A6-6141-01 COSM1367329 c.1525G>T p.E509* Substitution - Nonsense 13:48490242-48490242 - TCGA-AN-A046-01 COSM3813951 c.155G>T p.G52V Substitution - Missense 13:48515629-48515629 - pfg277T COSM4754765 c.264A>T p.E88D Substitution - Missense 13:48515290-48515290 - HCC2998 COSM1677661 c.881A>C p.K294T Substitution - Missense 13:48510674-48510674 - HCC160 COSM3704674 c.423G>T p.V141V Substitution - coding silent 13:48512822-48512822 - TCGA-DK-A1AC-01 COSM1300236 c.717C>T p.L239L Substitution - coding silent 13:48511836-48511836 - BN24 COSM1607134 c.1278C>T p.N426N Substitution - coding silent 13:48499727-48499727 - SH-0622 COSM1367334 c.673delG p.E225fs*46 Deletion - Frameshift 13:48512018-48512018 - PT48 COSM5933244 c.1385-7C>T p.? Unknown 13:48496328-48496328 - Pat_41_B COSM5842609 c.898C>T p.P300S Substitution - Missense 13:48510657-48510657 - ML_04_T_01 COSM5038090 c.1118-7C>T p.? Unknown 13:48501875-48501875 - BN24T COSM1607134 c.1278C>T p.N426N Substitution - coding silent 13:48499727-48499727 - PD4107a COSM163972 c.641A>C p.Q214P Substitution - Missense 13:48512050-48512050 - TCGA-A8-A06Q-01 COSM432461 c.528G>C p.W176C Substitution - Missense 13:48512163-48512163 - HCC063T COSM5812800 c.458A>T p.Q153L Substitution - Missense 13:48512787-48512787 - TCGA-IR-A3LK-01 COSM4817971 c.1155G>A p.K385K Substitution - coding silent 13:48501831-48501831 - ZZUFHECRKL-G047T COSM3999106 c.1497G>A p.A499A Substitution - coding silent 13:48496209-48496209 - TCGA-AA-3712-01 COSM1367339 c.26C>G p.S9C Substitution - Missense 13:48521914-48521914 - BL42 COSM3728260 c.1377G>T p.E459D Substitution - Missense 13:48499628-48499628 - TCGA-EE-A2GI-06 COSM3469162 c.742C>T p.P248S Substitution - Missense 13:48511811-48511811 - TCGA-HJ-7597-01 COSM4047937 c.137G>A p.R46H Substitution - Missense 13:48515647-48515647 - SA083 COSM214217 c.673G>T p.E225* Substitution - Nonsense 13:48512018-48512018 - CoCM-1 COSM4620983 c.474C>T p.A158A Substitution - coding silent 13:48512771-48512771 - SK-MEL-5 COSM1677660 c.1420C>T p.R474C Substitution - Missense 13:48496286-48496286 - BZ39 COSM5759318 c.1039C>T p.L347F Substitution - Missense 13:48502802-48502802 - HCC054T COSM5809685 c.1090G>C p.A364P Substitution - Missense 13:48502751-48502751 - TCGA-AP-A0LQ-01 COSM947810 c.1128C>A p.D376E Substitution - Missense 13:48501858-48501858 - TCGA-22-5472-01 COSM696471 c.702C>T p.N234N Substitution - coding silent 13:48511851-48511851 - TCGA-AP-A051-01 COSM947812 c.963G>A p.T321T Substitution - coding silent 13:48502878-48502878 - TCGA-D8-A1XQ-01 COSM5101869 c.103delT p.S35fs*10 Deletion - Frameshift 13:48515681-48515681 - 19 COSM5747485 c.1408T>C p.Y470H Substitution - Missense 13:48496298-48496298 - CSCC-20-T COSM1163704 c.298delA p.I100fs*1 Deletion - Frameshift 13:48515256-48515256 - YUQUEST COSM5376799 c.1483C>T p.L495L Substitution - coding silent 13:48496223-48496223 - 298273MDS COSM1963629 c.1263G>A p.S421S Substitution - coding silent 13:48499742-48499742 - 95 COSM5012689 c.1303G>T p.E435* Substitution - Nonsense 13:48499702-48499702 - HCC163T COSM3704673 c.445C>G p.L149V Substitution - Missense 13:48512800-48512800 - TCGA-AN-A046-01 COSM3813950 c.1262C>T p.S421L Substitution - Missense 13:48499743-48499743 - TCGA-EJ-5499-01 COSM1128368 c.56C>A p.T19N Substitution - Missense 13:48515728-48515728 - TCGA-B7-5816-01 COSM696473 c.847G>A p.A283T Substitution - Missense 13:48510708-48510708 - TCGA-F5-6814-01 COSM3417644 c.1239G>T p.K413N Substitution - Missense 13:48501747-48501747 - TCGA-EE-A2GB-06 COSM3469163 c.484T>C p.Y162H Substitution - Missense 13:48512761-48512761 - TCGA-09-1665-01 COSM82330 c.684C>T p.V228V Substitution - coding silent 13:48511869-48511869 - TCGA-A5-A0G9-01 COSM947813 c.757G>T p.A253S Substitution - Missense 13:48511796-48511796 - TCGA-CA-6717-01 COSM1367328 c.1549A>C p.N517H Substitution - Missense 13:48490218-48490218 - ccRCC-11 COSM1663876 c.1367C>T p.S456F Substitution - Missense 13:48499638-48499638 - Pat_26_A COSM5842608 c.977C>T p.T326M Substitution - Missense 13:48502864-48502864 - TCGA-A6-5665-01 COSM1367335 c.474C>A p.A158A Substitution - coding silent 13:48512771-48512771 - LS411 COSM1163704 c.298delA p.I100fs*1 Deletion - Frameshift 13:48515256-48515256 - cSCCP1 COSM135631 c.761T>C p.L254S Substitution - Missense 13:48511792-48511792 - PT42 COSM5925763 c.394G>A p.G132S Substitution - Missense 13:48512851-48512851 - T578 COSM4720876 c.160G>A p.A54T Substitution - Missense 13:48515624-48515624 - AOCS-135-3-1 COSM3957242 c.350-10T>A p.? Unknown 13:48512905-48512905 - TCGA-60-2726-01 COSM696473 c.847G>A p.A283T Substitution - Missense 13:48510708-48510708 - RK308_C01 COSM947812 c.963G>A p.T321T Substitution - coding silent 13:48502878-48502878 - PD11740a COSM5776356 c.1013G>A p.R338Q Substitution - Missense 13:48502828-48502828 - TCGA-A6-6781-01 COSM1367334 c.673delG p.E225fs*46 Deletion - Frameshift 13:48512018-48512018 - pfg008T COSM1163704 c.298delA p.I100fs*1 Deletion - Frameshift 13:48515256-48515256 - 05-P8014 COSM4575959 c.826G>A p.G276S Substitution - Missense 13:48510729-48510729 - TCGA-66-2754-01 COSM696470 c.17C>A p.P6H Substitution - Missense 13:48521923-48521923 - TCGA-AP-A0LM-01 COSM947809 c.1417A>C p.N473H Substitution - Missense 13:48496289-48496289 - TCGA-CA-6717-01 COSM1367338 c.81T>C p.D27D Substitution - coding silent 13:48515703-48515703 - TCGA-BS-A0UJ-01 COSM947814 c.601T>C p.C201R Substitution - Missense 13:48512090-48512090 - AOCS-148-1-4 COSM3957241 c.1609A>T p.K537* Substitution - Nonsense 13:48490158-48490158 - TCGA-CH-5765-01 COSM1128368 c.56C>A p.T19N Substitution - Missense 13:48515728-48515728 - YUTUR COSM5376798 c.1516-1G>A p.? Unknown 13:48490252-48490252 - TCGA-A2-A0CT-01 COSM432460 c.1179T>A p.T393T Substitution - coding silent 13:48501807-48501807 - NPC15F COSM4995220 c.227G>A p.G76D Substitution - Missense 13:48515327-48515327 - ESCC-184T COSM3936347 c.1165G>C p.D389H Substitution - Missense 13:48501821-48501821 - pfg008T COSM1163704 c.298delA p.I100fs*1 Deletion - Frameshift 13:48515256-48515256 - 587342 COSM1223440 c.518T>G p.V173G Substitution - Missense 13:48512173-48512173 - UMC11 COSM1942485 c.457C>G p.Q153E Substitution - Missense 13:48512788-48512788 - T3024 COSM1163704 c.298delA p.I100fs*1 Deletion - Frameshift 13:48515256-48515256 - TCGA-BR-6852-01 COSM4047935 c.873T>C p.T291T Substitution - coding silent 13:48510682-48510682 - TCGA-CK-4950-01 COSM1367337 c.180C>T p.Y60Y Substitution - coding silent 13:48515604-48515604 - PT46 COSM5929498 c.268C>T p.R90W Substitution - Missense 13:48515286-48515286 - TCGA-61-2113-01 COSM72396 c.949C>T p.H317Y Substitution - Missense 13:48502892-48502892 - 95 COSM5012688 c.1305A>T p.E435D Substitution - Missense 13:48499700-48499700 - PD13766a COSM5376799 c.1483C>T p.L495L Substitution - coding silent 13:48496223-48496223 - PD9759a COSM5772704 c.1313A>G p.Y438C Substitution - Missense 13:48499692-48499692 - TCGA-BR-A4QL-01 COSM4047936 c.773G>A p.R258H Substitution - Missense 13:48511780-48511780 - 298273AML COSM1963629 c.1263G>A p.S421S Substitution - coding silent 13:48499742-48499742 - MO_1249 COSM5549320 c.799G>A p.A267T Substitution - Missense 13:48510756-48510756 - D3 COSM5006752 c.192T>C p.N64N Substitution - coding silent 13:48515592-48515592 - TCGA-FS-A4FD-06 COSM3469161 c.1029C>T p.I343I Substitution - coding silent 13:48502812-48502812 - TCGA-AX-A064-01 COSM947811 c.991G>A p.V331M Substitution - Missense 13:48502850-48502850 - TCGA-G3-A25S-01 COSM4926745 c.1357A>G p.I453V Substitution - Missense 13:48499648-48499648 - PD4107a COSM163972 c.641A>C p.Q214P Substitution - Missense 13:48512050-48512050 - TCGA-AA-A010-01 COSM284524 c.149T>C p.V50A Substitution - Missense 13:48515635-48515635 - HCC2998 COSM1677661 c.881A>C p.K294T Substitution - Missense 13:48510674-48510674 - TCGA-D1-A17Q-01 COSM947815 c.587G>A p.R196Q Substitution - Missense 13:48512104-48512104 - SNUH_G16_S1 COSM3999106 c.1497G>A p.A499A Substitution - coding silent 13:48496209-48496209 - BD45T COSM1942466 c.1385-5G>T p.? Unknown 13:48496326-48496326 - TCGA-HU-A4G9-01 COSM4047933 c.1059T>C p.T353T Substitution - coding silent 13:48502782-48502782 - 17286 COSM48742 c.1351G>T p.D451Y Substitution - Missense 13:48499654-48499654 - CHC205T COSM3667286 c.931A>G p.I311V Substitution - Missense 13:48502910-48502910 - LP6007523-DNA_A01 COSM4215405 c.299T>A p.I100K Substitution - Missense 13:48515255-48515255 - cSCCP6 COSM136946 c.1112C>T p.S371F Substitution - Missense 13:48502729-48502729 - CHC205T COSM3667286 c.931A>G p.I311V Substitution - Missense 13:48502910-48502910 -

Mutation - CGAP UNIGENE CYTOBAND OMIM SNP Hs.652703;Hs.652704;Hs.652707;Hs.652710;Hs.652712 13q14.3 603524

Mutation - IntOGen Mutated from(ref) Mutated to(alt) Consequence Type AA Mutation CDS Mutation Chr Pos Cancer A G Missense p.Y162H c.484T>C 13 49086897 CM A G Synonymous p.T291T c.873T>C 13 49084818 STAD A T Missense p.N491K c.1473T>A 13 49070369 GBM A T Synonymous p.T393T c.1179T>A 13 49075943 BRCA C A Missense p.A253S c.757G>T 13 49085932 UCEC C A Missense p.A364S c.1090G>T 13 49076887 LUAD C A Missense p.D451Y c.1351G>T 13 49073790 LUAD C A Missense p.G182V c.545G>T 13 49086282 HNSC C A Missense p.K385N c.1155G>T 13 49075967 LUAD C A Missense p.R368L c.1103G>T 13 49076874 PRAD C A Missense p.R442L c.1325G>T 13 49073816 STAD C A Nonsense p.E225* c.673G>T 13 49086154 BRCA C G Missense p.W176C c.528G>C 13 49086299 BRCA C T Missense p.A283T c.847G>A 13 49084844 LUSC C T Missense p.A283T c.847G>A 13 49084844 STAD C T Missense p.A364T c.1090G>A 13 49076887 HNSC C T Missense p.D534N c.1600G>A 13 49064303 BLCA C T Missense p.D82N c.244G>A 13 49089446 BRCA C T Missense p.V331M c.991G>A 13 49076986 UCEC C T SpliceAcceptorSNV . c.1118-1G>A 13 49076005 LUAD G A Missense p.H317Y c.949C>T 13 49077028 OV G A Missense p.P248S c.742C>T 13 49085947 CM G A Missense p.S169F c.506C>T 13 49086875 BRCA G A Missense p.S437L c.1310C>T 13 49073831 CM G A Missense p.T362M c.1085C>T 13 49076892 HNSC G A Synonymous p.N234N c.702C>T 13 49085987 LUSC G A Synonymous p.V228V c.684C>T 13 49086005 OV G C Missense p.L42V c.124C>G 13 49089796 GBM G T Missense p.P6H c.17C>A 13 49096059 LUSC T A Missense p.Y299F c.896A>T 13 49084795 RCCC T C Missense p.K477R c.1430A>G 13 49070412 LGG T C Missense p.Y128C c.383A>G 13 49086998 LUAD T C Synonymous p.L167L c.501A>G 13 49086880 RCCC T - Frameshift p.I100*fs*1 c.298delA 13 49089392 STAD T G Missense p.Q214P c.641A>C 13 49086186 BRCA