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 ACC 21 45548439 45548439 + Silent SNP G G A TCGA-OR-A5LJ-01A-11D-A29I-10 TCGA-OR-A5LJ-10A-01D-A29L-10 g.chr21:45548439G>A c.2517G>A c.(2515-2517)ggG>ggA p.G839G BLCA 21 45537717 45537717 + Missense_Mutation SNP G G A TCGA-SY-A9G5-01A-11D-A38G-08 TCGA-SY-A9G5-10A-01D-A38J-08 g.chr21:45537717G>A c.853G>A c.(853-855)Gaa>Aaa p.E285K BLCA 21 45542227 45542227 + Silent SNP G G A TCGA-GV-A3QF-01A-31D-A22Z-08 TCGA-GV-A3QF-10A-01D-A22Z-08 g.chr21:45542227G>A c.1806G>A c.(1804-1806)gcG>gcA p.A602A BLCA 21 45545908 45545908 + Missense_Mutation SNP G G T TCGA-2F-A9KO-01A-11D-A38G-08 TCGA-2F-A9KO-11A-12D-A38J-08 g.chr21:45545908G>T c.1982G>T c.(1981-1983)aGa>aTa p.R661I BLCA 21 45547982 45547982 + Silent SNP C C T TCGA-MV-A51V-01A-11D-A26M-08 TCGA-MV-A51V-10A-01D-A26K-08 g.chr21:45547982C>T c.2310C>T c.(2308-2310)aaC>aaT p.N770N BLCA 21 45547985 45547985 + Missense_Mutation SNP G G C TCGA-K4-A6MB-01A-11D-A31L-08 TCGA-K4-A6MB-10A-01D-A31J-08 g.chr21:45547985G>C c.2313G>C c.(2311-2313)gaG>gaC p.E771D BLCA 21 45548015 45548015 + Silent SNP G G A TCGA-K4-A6MB-01A-11D-A31L-08 TCGA-K4-A6MB-10A-01D-A31J-08 g.chr21:45548015G>A c.2343G>A c.(2341-2343)gcG>gcA p.A781A BLCA 21 45548231 45548231 + Silent SNP C C T TCGA-FD-A5C0-01A-11D-A289-08 TCGA-FD-A5C0-10A-01D-A289-08 g.chr21:45548231C>T c.2463C>T c.(2461-2463)ctC>ctT p.L821L BLCA 21 45548494 45548494 + Missense_Mutation SNP G G A TCGA-DK-A3WW-01A-22D-A23M-08 TCGA-DK-A3WW-10A-01D-A23K-08 g.chr21:45548494G>A c.2572G>A c.(2572-2574)Gac>Aac p.D858N BLCA 21 45550606 45550606 + Missense_Mutation SNP C C G TCGA-CU-A3KJ-01A-11D-A21A-08 TCGA-CU-A3KJ-10A-01D-A21A-08 g.chr21:45550606C>G c.2713C>G c.(2713-2715)Ctg>Gtg p.L905V BLCA 21 45550618 45550618 + Missense_Mutation SNP G G C TCGA-KQ-A41R-01A-21D-A34U-08 TCGA-KQ-A41R-10G-01D-A34X-08 g.chr21:45550618G>C c.2725G>C c.(2725-2727)Gga>Cga p.G909R BRCA 21 45528869 45528869 + Missense_Mutation SNP C C T TCGA-A2-A0EX-01A-21W-A050-09 TCGA-A2-A0EX-10A-01W-A055-09 g.chr21:45528869C>T c.23C>T c.(22-24)tCa>tTa p.S8L BRCA 21 45540528 45540528 + Missense_Mutation SNP A A T TCGA-BH-A0DK-01A-21W-A071-09 TCGA-BH-A0DK-11A-13W-A100-09 g.chr21:45540528A>T c.1354A>T c.(1354-1356)Acc>Tcc p.T452S BRCA 21 45542081 45542081 + Missense_Mutation SNP G G C TCGA-BH-A1FN-01A-11D-A13L-09 TCGA-BH-A1FN-11A-34D-A13O-09 g.chr21:45542081G>C c.1660G>C c.(1660-1662)Gat>Cat p.D554H BRCA 21 45545915 45545915 + Missense_Mutation SNP G G A TCGA-AR-A1AJ-01A-21D-A12Q-09 TCGA-AR-A1AJ-10A-01D-A12Q-09 g.chr21:45545915G>A c.1989G>A c.(1987-1989)atG>atA p.M663I CESC 21 45538667 45538667 + Missense_Mutation SNP C C T TCGA-Q1-A73O-01A-11D-A32I-09 TCGA-Q1-A73O-10B-01D-A32I-09 g.chr21:45538667C>T c.1004C>T c.(1003-1005)tCa>tTa p.S335L CESC 21 45539369 45539369 + Missense_Mutation SNP G G A TCGA-EA-A3HT-01A-61D-A21Q-09 TCGA-EA-A3HT-10A-01D-A21Q-09 g.chr21:45539369G>A c.1153G>A c.(1153-1155)Gga>Aga p.G385R CESC 21 45547816 45547816 + Missense_Mutation SNP G G A TCGA-EA-A3HU-01A-11D-A20U-09 TCGA-EA-A3HU-10B-01D-A20U-09 g.chr21:45547816G>A c.2144G>A c.(2143-2145)cGc>cAc p.R715H CESC 21 45547964 45547964 + Silent SNP C C G TCGA-EK-A2PG-01A-11D-A18J-09 TCGA-EK-A2PG-10A-01D-A18J-09 g.chr21:45547964C>G c.2292C>G c.(2290-2292)ctC>ctG p.L764L CESC 21 45548023 45548023 + Missense_Mutation SNP G G A TCGA-FU-A23L-01A-11D-A16O-08 TCGA-FU-A23L-10A-01D-A16O-08 g.chr21:45548023G>A c.2351G>A c.(2350-2352)aGg>aAg p.R784K COAD 21 45534115 45534115 + Silent SNP C C T TCGA-AA-3966-01A-01W-1073-09 TCGA-AA-3966-10A-01W-1073-09 g.chr21:45534115C>T c.282C>T c.(280-282)caC>caT p.H94H COAD 21 45535249 45535249 + Missense_Mutation SNP T T C TCGA-DM-A1HB-01A-21D-A183-10 TCGA-DM-A1HB-10A-01D-A183-10 g.chr21:45535249T>C c.575T>C c.(574-576)gTg>gCg p.V192A COAD 21 45535791 45535791 + Missense_Mutation SNP C C T TCGA-D5-6927-01A-21D-1924-10 TCGA-D5-6927-10A-01D-1924-10 g.chr21:45535791C>T c.826C>T c.(826-828)Cgg>Tgg p.R276W COAD 21 45540240 45540240 + Nonsense_Mutation SNP G G A TCGA-AZ-4315-01A-01D-1408-10 TCGA-AZ-4315-10A-01D-1408-10 g.chr21:45540240G>A c.1200G>A c.(1198-1200)tgG>tgA p.W400* COAD 21 45540959 45540959 + Missense_Mutation SNP G G A TCGA-AY-4071-01A-01W-1073-09 TCGA-AY-4071-10A-01W-1073-09 g.chr21:45540959G>A c.1612G>A c.(1612-1614)Gag>Aag p.E538K COAD 21 45542075 45542075 + Missense_Mutation SNP C C T TCGA-AA-A02H-01A-01W-A00E-09 TCGA-AA-A02H-10A-01W-A00E-09 g.chr21:45542075C>T c.1654C>T c.(1654-1656)Cgc>Tgc p.R552C COAD 21 45542088 45542088 + Missense_Mutation SNP C C T TCGA-AA-A00J-01A-02W-A005-10 TCGA-AA-A00J-10A-01W-A005-10 g.chr21:45542088C>T c.1667C>T c.(1666-1668)gCg>gTg p.A556V COAD 21 45544508 45544508 + Missense_Mutation SNP C C T TCGA-AA-3947-01A-01W-0995-10 TCGA-AA-3947-10A-01W-0995-10 g.chr21:45544508C>T c.1865C>T c.(1864-1866)gCg>gTg p.A622V COAD 21 45545959 45545959 + Missense_Mutation SNP A A G TCGA-AA-A00R-01A-01W-A005-10 TCGA-AA-A00R-10A-01W-A005-10 g.chr21:45545959A>G c.2033A>G c.(2032-2034)cAg>cGg p.Q678R COAD 21 45548025 45548025 + Missense_Mutation SNP G G T TCGA-DM-A0XF-01A-11D-A152-10 TCGA-DM-A0XF-10A-01D-A152-10 g.chr21:45548025G>T c.2353G>T c.(2353-2355)Ggc>Tgc p.G785C COADREAD 21 45534115 45534115 + Silent SNP C C T TCGA-AA-3966-01A-01W-1073-09 TCGA-AA-3966-10A-01W-1073-09 g.chr21:45534115C>T c.282C>T c.(280-282)caC>caT p.H94H COADREAD 21 45535249 45535249 + Missense_Mutation SNP T T C TCGA-DM-A1HB-01A-21D-A183-10 TCGA-DM-A1HB-10A-01D-A183-10 g.chr21:45535249T>C c.575T>C c.(574-576)gTg>gCg p.V192A COADREAD 21 45535791 45535791 + Missense_Mutation SNP C C T TCGA-D5-6927-01A-21D-1924-10 TCGA-D5-6927-10A-01D-1924-10 g.chr21:45535791C>T c.826C>T c.(826-828)Cgg>Tgg p.R276W COADREAD 21 45540240 45540240 + Nonsense_Mutation SNP G G A TCGA-AZ-4315-01A-01D-1408-10 TCGA-AZ-4315-10A-01D-1408-10 g.chr21:45540240G>A c.1200G>A c.(1198-1200)tgG>tgA p.W400* COADREAD 21 45540959 45540959 + Missense_Mutation SNP G G A TCGA-AY-4071-01A-01W-1073-09 TCGA-AY-4071-10A-01W-1073-09 g.chr21:45540959G>A c.1612G>A c.(1612-1614)Gag>Aag p.E538K COADREAD 21 45542075 45542075 + Missense_Mutation SNP C C T TCGA-AA-A02H-01A-01W-A00E-09 TCGA-AA-A02H-10A-01W-A00E-09 g.chr21:45542075C>T c.1654C>T c.(1654-1656)Cgc>Tgc p.R552C COADREAD 21 45542088 45542088 + Missense_Mutation SNP C C T TCGA-AA-A00J-01A-02W-A005-10 TCGA-AA-A00J-10A-01W-A005-10 g.chr21:45542088C>T c.1667C>T c.(1666-1668)gCg>gTg p.A556V COADREAD 21 45544508 45544508 + Missense_Mutation SNP C C T TCGA-AA-3947-01A-01W-0995-10 TCGA-AA-3947-10A-01W-0995-10 g.chr21:45544508C>T c.1865C>T c.(1864-1866)gCg>gTg p.A622V COADREAD 21 45545959 45545959 + Missense_Mutation SNP A A G TCGA-AA-A00R-01A-01W-A005-10 TCGA-AA-A00R-10A-01W-A005-10 g.chr21:45545959A>G c.2033A>G c.(2032-2034)cAg>cGg p.Q678R COADREAD 21 45548025 45548025 + Missense_Mutation SNP G G T TCGA-DM-A0XF-01A-11D-A152-10 TCGA-DM-A0XF-10A-01D-A152-10 g.chr21:45548025G>T c.2353G>T c.(2353-2355)Ggc>Tgc p.G785C DLBC 21 45538685 45538685 + Missense_Mutation SNP C C T TCGA-G8-6324-01A-11D-2210-10 TCGA-G8-6324-10A-01D-2210-10 g.chr21:45538685C>T c.1022C>T c.(1021-1023)tCg>tTg p.S341L ESCA 21 45528948 45528948 + Silent SNP C C A TCGA-L5-A4OE-01A-11D-A27G-09 TCGA-L5-A4OE-11A-11D-A27G-09 g.chr21:45528948C>A c.102C>A c.(100-102)ggC>ggA p.G34G ESCA 21 45537717 45537717 + Nonsense_Mutation SNP G G T TCGA-R6-A8WG-01A-11D-A37C-09 TCGA-R6-A8WG-10A-01D-A37F-09 g.chr21:45537717G>T c.853G>T c.(853-855)Gaa>Taa p.E285* ESCA 21 45539308 45539308 + Silent SNP C C G TCGA-IC-A6RE-01A-11D-A33E-09 TCGA-IC-A6RE-10A-01D-A33H-09 g.chr21:45539308C>G c.1092C>G c.(1090-1092)tcC>tcG p.S364S GBM 21 45545899 45545899 + Missense_Mutation SNP T T C TCGA-76-6656-01A-11D-1845-08 TCGA-76-6656-10A-01D-1845-08 g.chr21:45545899T>C c.1973T>C c.(1972-1974)tTg>tCg p.L658S GBMLGG 21 45540355 45540355 + Missense_Mutation SNP G G A TCGA-DU-6394-01A-11D-1705-08 TCGA-DU-6394-10A-01D-1705-08 g.chr21:45540355G>A c.1315G>A c.(1315-1317)Gtg>Atg p.V439M GBMLGG 21 45542167 45542167 + Missense_Mutation SNP G G T TCGA-DU-6392-01A-11D-1705-08 TCGA-DU-6392-10A-01D-1705-08 g.chr21:45542167G>T c.1746G>T c.(1744-1746)gaG>gaT p.E582D GBMLGG 21 45544500 45544500 + Silent SNP C C T TCGA-DU-6392-01A-11D-1705-08 TCGA-DU-6392-10A-01D-1705-08 g.chr21:45544500C>T c.1857C>T c.(1855-1857)agC>agT p.S619S GBMLGG 21 45545899 45545899 + Missense_Mutation SNP T T C TCGA-76-6656-01A-11D-1845-08 TCGA-76-6656-10A-01D-1845-08 g.chr21:45545899T>C c.1973T>C c.(1972-1974)tTg>tCg p.L658S GBMLGG 21 45547815 45547815 + Missense_Mutation SNP C C T TCGA-S9-A6U0-01A-12D-A32B-08 TCGA-S9-A6U0-10A-01D-A329-08 g.chr21:45547815C>T c.2143C>T c.(2143-2145)Cgc>Tgc p.R715C HNSC 21 45535281 45535281 + Splice_Site SNP G G A TCGA-CV-5434-01A-01D-1683-08 TCGA-CV-5434-10A-01D-1870-08 g.chr21:45535281G>A c.e6+1 HNSC 21 45540617 45540617 + Silent SNP T T C TCGA-F7-A624-01A-22D-A30E-08 TCGA-F7-A624-10A-01D-A30H-08 g.chr21:45540617T>C c.1443T>C c.(1441-1443)ttT>ttC p.F481F KIPAN 21 45534138 45534138 + Missense_Mutation SNP T T C TCGA-P4-A5E7-01A-31D-A28G-10 TCGA-P4-A5E7-11A-11D-A28G-10 g.chr21:45534138T>C c.305T>C c.(304-306)gTg>gCg p.V102A KIRP 21 45534138 45534138 + Missense_Mutation SNP T T C TCGA-P4-A5E7-01A-31D-A28G-10 TCGA-P4-A5E7-11A-11D-A28G-10 g.chr21:45534138T>C c.305T>C c.(304-306)gTg>gCg p.V102A LGG 21 45540355 45540355 + Missense_Mutation SNP G G A TCGA-DU-6394-01A-11D-1705-08 TCGA-DU-6394-10A-01D-1705-08 g.chr21:45540355G>A c.1315G>A c.(1315-1317)Gtg>Atg p.V439M LGG 21 45542167 45542167 + Missense_Mutation SNP G G T TCGA-DU-6392-01A-11D-1705-08 TCGA-DU-6392-10A-01D-1705-08 g.chr21:45542167G>T c.1746G>T c.(1744-1746)gaG>gaT p.E582D LGG 21 45544500 45544500 + Silent SNP C C T TCGA-DU-6392-01A-11D-1705-08 TCGA-DU-6392-10A-01D-1705-08 g.chr21:45544500C>T c.1857C>T c.(1855-1857)agC>agT p.S619S LGG 21 45547815 45547815 + Missense_Mutation SNP C C T TCGA-S9-A6U0-01A-12D-A32B-08 TCGA-S9-A6U0-10A-01D-A329-08 g.chr21:45547815C>T c.2143C>T c.(2143-2145)Cgc>Tgc p.R715C LIHC 21 45534063 45534063 + Missense_Mutation SNP G G A TCGA-RC-A7S9-01A-11D-A33Q-10 TCGA-RC-A7S9-10A-02D-A33Q-10 g.chr21:45534063G>A c.230G>A c.(229-231)gGc>gAc p.G77D LIHC 21 45545890 45545890 + Splice_Site SNP A A T TCGA-2Y-A9HA-01A-11D-A38X-10 TCGA-2Y-A9HA-10A-01D-A38X-10 g.chr21:45545890A>T c.e16-1 LIHC 21 45547852 45547852 + Missense_Mutation SNP T T C TCGA-DD-A39Y-01A-11D-A20W-10 TCGA-DD-A39Y-11A-11D-A20W-10 g.chr21:45547852T>C c.2180T>C c.(2179-2181)aTc>aCc p.I727T LIHC 21 45548277 45548277 + Splice_Site SNP A A G TCGA-ES-A2HT-01A-12D-A183-10 TCGA-ES-A2HT-11A-11D-A183-10 g.chr21:45548277A>G c.2509A>G c.(2509-2511)Aga>Gga p.R837G LUAD 21 45540513 45540513 + Splice_Site SNP T T C TCGA-MP-A4SV-01A-11D-A24P-08 TCGA-MP-A4SV-10A-01D-A24P-08 g.chr21:45540513T>C c.1339T>C c.(1339-1341)Tac>Cac p.Y447H LUAD 21 45540641 45540641 + Silent SNP G G A TCGA-86-8073-01A-11D-2238-08 TCGA-86-8073-10A-01D-2238-08 g.chr21:45540641G>A c.1467G>A c.(1465-1467)caG>caA p.Q489Q LUAD 21 45540652 45540652 + Missense_Mutation SNP T T C TCGA-67-6215-01A-11D-1753-08 TCGA-67-6215-10A-01D-1753-08 g.chr21:45540652T>C c.1478T>C c.(1477-1479)cTc>cCc p.L493P LUAD 21 45540973 45540973 + Silent SNP G G A TCGA-95-7948-01A-11D-2184-08 TCGA-95-7948-10A-01D-2184-08 g.chr21:45540973G>A c.1626G>A c.(1624-1626)ctG>ctA p.L542L LUAD 21 45542228 45542228 + Missense_Mutation SNP G G T TCGA-86-8073-01A-11D-2238-08 TCGA-86-8073-10A-01D-2238-08 g.chr21:45542228G>T c.1807G>T c.(1807-1809)Gcc>Tcc p.A603S LUAD 21 45544482 45544482 + Silent SNP C C T TCGA-75-7027-01A-11D-1945-08 TCGA-75-7027-10A-01D-1946-08 g.chr21:45544482C>T c.1839C>T c.(1837-1839)taC>taT p.Y613Y LUAD 21 45544509 45544509 + Silent SNP G G A TCGA-55-7227-01A-11D-2036-08 TCGA-55-7227-10A-01D-2036-08 g.chr21:45544509G>A c.1866G>A c.(1864-1866)gcG>gcA p.A622A LUAD 21 45547949 45547949 + Silent SNP C C T TCGA-44-A47B-01A-11D-A24D-08 TCGA-44-A47B-10A-01D-A24F-08 g.chr21:45547949C>T c.2277C>T c.(2275-2277)ttC>ttT p.F759F LUSC 21 45535237 45535237 + Missense_Mutation SNP A A T TCGA-18-3417-01A-01D-1441-08 TCGA-18-3417-11A-01D-1441-08 g.chr21:45535237A>T c.563A>T c.(562-564)aAg>aTg p.K188M LUSC 21 45547881 45547881 + Missense_Mutation SNP G G A TCGA-33-6737-01A-11D-1817-08 TCGA-33-6737-11A-01D-1817-08 g.chr21:45547881G>A c.2209G>A c.(2209-2211)Gac>Aac p.D737N LUSC 21 45548185 45548185 + Missense_Mutation SNP T T C TCGA-66-2789-01A-01D-0983-08 TCGA-66-2789-11A-01D-0983-08 g.chr21:45548185T>C c.2417T>C c.(2416-2418)tTa>tCa p.L806S OV 21 45547958 45547958 + Silent SNP C C T TCGA-04-1648-01A-01W-0639-09 TCGA-04-1648-11A-01W-0639-09 g.chr21:45547958C>T c.2286C>T c.(2284-2286)gcC>gcT p.A762A OV 21 45548140 45548140 + Missense_Mutation SNP C C T TCGA-29-1766-01A-01W-0633-09 TCGA-29-1766-10A-01W-0634-09 g.chr21:45548140C>T c.2372C>T c.(2371-2373)aCc>aTc p.T791I PAAD 21 45533719 45533719 + Missense_Mutation SNP G G A TCGA-IB-7651-01A-11D-2154-08 TCGA-IB-7651-10A-01D-2154-08 g.chr21:45533719G>A c.217G>A c.(217-219)Gtc>Atc p.V73I PRAD 21 45547935 45547935 + Missense_Mutation SNP C C T TCGA-XK-AAIW-01A-11D-A41K-08 TCGA-XK-AAIW-10A-01D-A41N-08 g.chr21:45547935C>T c.2263C>T c.(2263-2265)Cgc>Tgc p.R755C SARC 21 45539347 45539347 + Silent SNP G G A TCGA-DX-A6YZ-01A-12D-A351-09 TCGA-DX-A6YZ-10B-01D-A351-09 g.chr21:45539347G>A c.1131G>A c.(1129-1131)gtG>gtA p.V377V SKCM 21 45533653 45533653 + Missense_Mutation SNP C C T TCGA-D9-A6EC-06A-11D-A30X-08 TCGA-D9-A6EC-10A-01D-A30X-08 g.chr21:45533653C>T c.151C>T c.(151-153)Ccc>Tcc p.P51S SKCM 21 45534562 45534562 + Missense_Mutation SNP A A C TCGA-D9-A6EC-06A-11D-A30X-08 TCGA-D9-A6EC-10A-01D-A30X-08 g.chr21:45534562A>C c.383A>C c.(382-384)aAg>aCg p.K128T SKCM 21 45535698 45535698 + Missense_Mutation SNP G G A TCGA-FS-A1Z3-06A-11D-A197-08 TCGA-FS-A1Z3-10A-01D-A199-08 g.chr21:45535698G>A c.733G>A c.(733-735)Gag>Aag p.E245K SKCM 21 45535744 45535744 + Missense_Mutation SNP A A G TCGA-D9-A1JW-06A-11D-A19A-08 TCGA-D9-A1JW-10A-01D-A19A-08 g.chr21:45535744A>G c.779A>G c.(778-780)aAa>aGa p.K260R SKCM 21 45537723 45537723 + Missense_Mutation SNP G G A TCGA-EE-A2GD-06A-11D-A196-08 TCGA-EE-A2GD-10A-01D-A198-08 g.chr21:45537723G>A c.859G>A c.(859-861)Gat>Aat p.D287N SKCM 21 45540342 45540342 + Silent SNP C C T TCGA-ER-A193-06A-12D-A197-08 TCGA-ER-A193-10A-01D-A199-08 g.chr21:45540342C>T c.1302C>T c.(1300-1302)tcC>tcT p.S434S SKCM 21 45540978 45540978 + Missense_Mutation SNP C C T TCGA-FR-A3YO-06A-11D-A23B-08 TCGA-FR-A3YO-10A-01D-A23B-08 g.chr21:45540978C>T c.1631C>T c.(1630-1632)tCt>tTt p.S544F SKCM 21 45548195 45548195 + Silent SNP C C T TCGA-EE-A2MF-06A-11D-A21A-08 TCGA-EE-A2MF-10B-01D-A21A-08 g.chr21:45548195C>T c.2427C>T c.(2425-2427)tcC>tcT p.S809S SKCM 21 45548478 45548478 + Silent SNP C C T TCGA-D3-A2J7-06A-11D-A196-08 TCGA-D3-A2J7-10A-01D-A198-08 g.chr21:45548478C>T c.2556C>T c.(2554-2556)atC>atT p.I852I

Mutation - ICGC Project Code Chromosome Chromosome Start Chromosome End Mutation Type Mutated from Allele Mutated to Allele Consequence Type AA Mutation CDS Mutation AML-US 21 45523402 45523402 single base substitution G A upstream_gene_variant BLCA-CN 21 45522728 45522728 single base substitution C G upstream_gene_variant BLCA-CN 21 45522729 45522729 single base substitution T G upstream_gene_variant BLCA-CN 21 45527291 45527291 single base substitution G A 5_prime_UTR_variant BLCA-CN 21 45533729 45533729 single base substitution G A splice_donor_variant BLCA-CN 21 45533729 45533729 single base substitution G A upstream_gene_variant BLCA-US 21 45522807 45522807 single base substitution C T upstream_gene_variant BLCA-US 21 45542227 45542227 single base substitution G A downstream_gene_variant BLCA-US 21 45542227 45542227 single base substitution G A exon_variant BLCA-US 21 45542227 45542227 single base substitution G A synonymous_variant A602A 1806G>A BLCA-US 21 45542227 45542227 single base substitution G A upstream_gene_variant BLCA-US 21 45548494 45548494 single base substitution G A downstream_gene_variant BLCA-US 21 45548494 45548494 single base substitution G A exon_variant BLCA-US 21 45548494 45548494 single base substitution G A missense_variant D858N 2572G>A BLCA-US 21 45550606 45550606 single base substitution C G downstream_gene_variant BLCA-US 21 45550606 45550606 single base substitution C G missense_variant L905V 2713C>G BRCA-EU 21 45522611 45522611 single base substitution G C upstream_gene_variant BRCA-EU 21 45523891 45523891 single base substitution G A upstream_gene_variant BRCA-EU 21 45524653 45524653 single base substitution A C upstream_gene_variant BRCA-EU 21 45525401 45525401 single base substitution G C upstream_gene_variant BRCA-EU 21 45526220 45526220 deletion of <=200bp C - upstream_gene_variant BRCA-EU 21 45527582 45527651 deletion of <=200bp GGCCCAACCTAAAGGCTGGAGTTGGTGCAGTCGGGGAGGGCACAGCACCCTCGGGAGGGATGAGGAGGTG - intron_variant BRCA-EU 21 45528021 45528021 single base substitution C T intron_variant BRCA-EU 21 45530675 45530675 single base substitution A G intron_variant BRCA-EU 21 45530675 45530675 single base substitution A G upstream_gene_variant BRCA-EU 21 45532117 45532117 single base substitution C T intron_variant BRCA-EU 21 45532117 45532117 single base substitution C T upstream_gene_variant BRCA-EU 21 45534729 45534729 single base substitution C T intron_variant BRCA-EU 21 45534729 45534729 single base substitution C T upstream_gene_variant BRCA-EU 21 45536655 45536655 single base substitution C A downstream_gene_variant BRCA-EU 21 45536655 45536655 single base substitution C A intron_variant BRCA-EU 21 45536655 45536655 single base substitution C A upstream_gene_variant BRCA-EU 21 45537101 45537101 single base substitution T C downstream_gene_variant BRCA-EU 21 45537101 45537101 single base substitution T C intron_variant BRCA-EU 21 45537101 45537101 single base substitution T C upstream_gene_variant BRCA-EU 21 45540053 45540053 single base substitution A C downstream_gene_variant BRCA-EU 21 45540053 45540053 single base substitution A C intron_variant BRCA-EU 21 45540856 45540856 single base substitution C A downstream_gene_variant BRCA-EU 21 45540856 45540856 single base substitution C A exon_variant BRCA-EU 21 45540856 45540856 single base substitution C A synonymous_variant P503P 1509C>A BRCA-EU 21 45541509 45541509 single base substitution G C downstream_gene_variant BRCA-EU 21 45541509 45541509 single base substitution G C exon_variant BRCA-EU 21 45541509 45541509 single base substitution G C intron_variant BRCA-EU 21 45541509 45541509 single base substitution G C upstream_gene_variant BRCA-EU 21 45543903 45543903 single base substitution G A intron_variant BRCA-EU 21 45543903 45543903 single base substitution G A upstream_gene_variant BRCA-EU 21 45546390 45546390 single base substitution G C intron_variant BRCA-EU 21 45546390 45546390 single base substitution G C upstream_gene_variant BRCA-EU 21 45546637 45546637 single base substitution G C intron_variant BRCA-EU 21 45546637 45546637 single base substitution G C upstream_gene_variant BRCA-EU 21 45546830 45546830 single base substitution C G exon_variant BRCA-EU 21 45546830 45546830 single base substitution C G synonymous_variant L708L 2124C>G BRCA-EU 21 45546830 45546830 single base substitution C G upstream_gene_variant BRCA-EU 21 45547502 45547502 single base substitution C G exon_variant BRCA-EU 21 45547502 45547502 single base substitution C G intron_variant BRCA-EU 21 45547502 45547502 single base substitution C G upstream_gene_variant BRCA-EU 21 45550770 45550770 single base substitution C T 3_prime_UTR_variant BRCA-EU 21 45550770 45550770 single base substitution C T downstream_gene_variant BRCA-EU 21 45551407 45551407 deletion of <=200bp C - downstream_gene_variant BRCA-EU 21 45553369 45553369 single base substitution G A downstream_gene_variant BRCA-EU 21 45553538 45553538 single base substitution T A downstream_gene_variant BRCA-EU 21 45553576 45553576 single base substitution C G downstream_gene_variant BRCA-EU 21 45554655 45554655 single base substitution G C downstream_gene_variant BRCA-EU 21 45554819 45554819 single base substitution C A downstream_gene_variant BRCA-EU 21 45554919 45554919 single base substitution G T downstream_gene_variant BRCA-FR 21 45537101 45537101 single base substitution T C downstream_gene_variant BRCA-FR 21 45537101 45537101 single base substitution T C intron_variant BRCA-FR 21 45537101 45537101 single base substitution T C upstream_gene_variant BRCA-FR 21 45538323 45538323 single base substitution C T downstream_gene_variant BRCA-FR 21 45538323 45538323 single base substitution C T intron_variant BRCA-FR 21 45538323 45538323 single base substitution C T upstream_gene_variant BRCA-FR 21 45541509 45541509 single base substitution G C downstream_gene_variant BRCA-FR 21 45541509 45541509 single base substitution G C exon_variant BRCA-FR 21 45541509 45541509 single base substitution G C intron_variant BRCA-FR 21 45541509 45541509 single base substitution G C upstream_gene_variant BRCA-FR 21 45543650 45543650 single base substitution C G intron_variant BRCA-FR 21 45543650 45543650 single base substitution C G upstream_gene_variant BRCA-FR 21 45546390 45546390 single base substitution G C intron_variant BRCA-FR 21 45546390 45546390 single base substitution G C upstream_gene_variant BRCA-FR 21 45554655 45554655 single base substitution G C downstream_gene_variant BRCA-KR 21 45553609 45553609 single base substitution G C downstream_gene_variant BRCA-US 21 45528869 45528869 single base substitution C T missense_variant S8L 23C>T BRCA-US 21 45534480 45534480 single base substitution C T exon_variant BRCA-US 21 45534480 45534480 single base substitution C T intron_variant BRCA-US 21 45534480 45534480 single base substitution C T upstream_gene_variant BRCA-US 21 45540528 45540528 single base substitution A T downstream_gene_variant BRCA-US 21 45540528 45540528 single base substitution A T exon_variant BRCA-US 21 45540528 45540528 single base substitution A T missense_variant T452S 1354A>T BRCA-US 21 45542081 45542081 single base substitution G C downstream_gene_variant BRCA-US 21 45542081 45542081 single base substitution G C exon_variant BRCA-US 21 45542081 45542081 single base substitution G C missense_variant D554H 1660G>C BRCA-US 21 45542081 45542081 single base substitution G C upstream_gene_variant BRCA-US 21 45545915 45545915 single base substitution G A exon_variant BRCA-US 21 45545915 45545915 single base substitution G A missense_variant M663I 1989G>A BRCA-US 21 45545915 45545915 single base substitution G A upstream_gene_variant BRCA-US 21 45553575 45553575 single base substitution C T downstream_gene_variant BTCA-JP 21 45522795 45522795 single base substitution C T upstream_gene_variant BTCA-JP 21 45533917 45533917 single base substitution G A intron_variant BTCA-JP 21 45533917 45533917 single base substitution G A upstream_gene_variant BTCA-JP 21 45537764 45537764 single base substitution T C downstream_gene_variant BTCA-JP 21 45537764 45537764 single base substitution T C synonymous_variant S300S 900T>C BTCA-JP 21 45537764 45537764 single base substitution T C upstream_gene_variant BTCA-JP 21 45540319 45540319 single base substitution G A downstream_gene_variant BTCA-JP 21 45540319 45540319 single base substitution G A exon_variant BTCA-JP 21 45540319 45540319 single base substitution G A missense_variant G427S 1279G>A BTCA-JP 21 45540799 45540799 single base substitution C T downstream_gene_variant BTCA-JP 21 45540799 45540799 single base substitution C T intron_variant BTCA-JP 21 45547752 45547752 single base substitution G A downstream_gene_variant BTCA-JP 21 45547752 45547752 single base substitution G A exon_variant BTCA-JP 21 45547752 45547752 single base substitution G A intron_variant BTCA-JP 21 45547924 45547924 single base substitution G A downstream_gene_variant BTCA-JP 21 45547924 45547924 single base substitution G A exon_variant BTCA-JP 21 45547924 45547924 single base substitution G A missense_variant R751H 2252G>A BTCA-JP 21 45547936 45547936 single base substitution G T downstream_gene_variant BTCA-JP 21 45547936 45547936 single base substitution G T exon_variant BTCA-JP 21 45547936 45547936 single base substitution G T missense_variant R755L 2264G>T CESC-US 21 45538667 45538667 single base substitution C T downstream_gene_variant CESC-US 21 45538667 45538667 single base substitution C T missense_variant S335L 1004C>T CESC-US 21 45538667 45538667 single base substitution C T upstream_gene_variant CESC-US 21 45539369 45539369 single base substitution G A downstream_gene_variant CESC-US 21 45539369 45539369 single base substitution G A exon_variant CESC-US 21 45539369 45539369 single base substitution G A missense_variant G385R 1153G>A CESC-US 21 45547816 45547816 single base substitution G A downstream_gene_variant CESC-US 21 45547816 45547816 single base substitution G A exon_variant CESC-US 21 45547816 45547816 single base substitution G A missense_variant R715H 2144G>A CESC-US 21 45547964 45547964 single base substitution C G downstream_gene_variant CESC-US 21 45547964 45547964 single base substitution C G exon_variant CESC-US 21 45547964 45547964 single base substitution C G synonymous_variant L764L 2292C>G CESC-US 21 45548023 45548023 single base substitution G A downstream_gene_variant CESC-US 21 45548023 45548023 single base substitution G A exon_variant CESC-US 21 45548023 45548023 single base substitution G A missense_variant R784K 2351G>A COAD-US 21 45535791 45535791 single base substitution C T downstream_gene_variant COAD-US 21 45535791 45535791 single base substitution C T exon_variant COAD-US 21 45535791 45535791 single base substitution C T missense_variant R276W 826C>T COAD-US 21 45535791 45535791 single base substitution C T upstream_gene_variant COAD-US 21 45540240 45540240 single base substitution G A downstream_gene_variant COAD-US 21 45540240 45540240 single base substitution G A exon_variant COAD-US 21 45540240 45540240 single base substitution G A stop_gained W400* 1200G>A COAD-US 21 45548025 45548025 single base substitution G T downstream_gene_variant COAD-US 21 45548025 45548025 single base substitution G T exon_variant COAD-US 21 45548025 45548025 single base substitution G T missense_variant G785C 2353G>T COCA-CN 21 45522700 45522700 single base substitution T C upstream_gene_variant COCA-CN 21 45528719 45528719 single base substitution C A intron_variant COCA-CN 21 45534462 45534462 single base substitution A G exon_variant COCA-CN 21 45534462 45534462 single base substitution A G intron_variant COCA-CN 21 45534462 45534462 single base substitution A G upstream_gene_variant COCA-CN 21 45539443 45539443 single base substitution G T downstream_gene_variant COCA-CN 21 45539443 45539443 single base substitution G T intron_variant COCA-CN 21 45540207 45540207 single base substitution C T downstream_gene_variant COCA-CN 21 45540207 45540207 single base substitution C T intron_variant COCA-CN 21 45540923 45540923 single base substitution C T downstream_gene_variant COCA-CN 21 45540923 45540923 single base substitution C T exon_variant COCA-CN 21 45540923 45540923 single base substitution C T missense_variant R526C 1576C>T COCA-CN 21 45540923 45540923 single base substitution C T upstream_gene_variant COCA-CN 21 45540963 45540963 single base substitution C T downstream_gene_variant COCA-CN 21 45540963 45540963 single base substitution C T exon_variant COCA-CN 21 45540963 45540963 single base substitution C T missense_variant T539M 1616C>T COCA-CN 21 45540963 45540963 single base substitution C T upstream_gene_variant COCA-CN 21 45546847 45546847 single base substitution G A exon_variant COCA-CN 21 45546847 45546847 single base substitution G A splice_donor_variant COCA-CN 21 45546847 45546847 single base substitution G A upstream_gene_variant COCA-CN 21 45547838 45547838 single base substitution G A downstream_gene_variant COCA-CN 21 45547838 45547838 single base substitution G A exon_variant COCA-CN 21 45547838 45547838 single base substitution G A synonymous_variant T722T 2166G>A COCA-CN 21 45547872 45547872 single base substitution G A downstream_gene_variant COCA-CN 21 45547872 45547872 single base substitution G A exon_variant COCA-CN 21 45547872 45547872 single base substitution G A missense_variant V734M 2200G>A COCA-CN 21 45547957 45547957 single base substitution C T downstream_gene_variant COCA-CN 21 45547957 45547957 single base substitution C T exon_variant COCA-CN 21 45547957 45547957 single base substitution C T missense_variant A762V 2285C>T COCA-CN 21 45548089 45548089 single base substitution T A downstream_gene_variant COCA-CN 21 45548089 45548089 single base substitution T A intron_variant COCA-CN 21 45550453 45550453 single base substitution T C downstream_gene_variant COCA-CN 21 45550453 45550453 single base substitution T C intron_variant COCA-CN 21 45553409 45553409 single base substitution C A downstream_gene_variant ESAD-UK 21 45524482 45524482 single base substitution A G upstream_gene_variant ESAD-UK 21 45524734 45524734 single base substitution C T upstream_gene_variant ESAD-UK 21 45529643 45529643 single base substitution C T intron_variant ESAD-UK 21 45529643 45529643 single base substitution C T upstream_gene_variant ESAD-UK 21 45529757 45529757 single base substitution G A intron_variant ESAD-UK 21 45529757 45529757 single base substitution G A upstream_gene_variant ESAD-UK 21 45530793 45530793 single base substitution A T intron_variant ESAD-UK 21 45530793 45530793 single base substitution A T upstream_gene_variant ESAD-UK 21 45531602 45531602 single base substitution T G intron_variant ESAD-UK 21 45531602 45531602 single base substitution T G upstream_gene_variant ESAD-UK 21 45532994 45532994 single base substitution C T intron_variant ESAD-UK 21 45532994 45532994 single base substitution C T upstream_gene_variant ESAD-UK 21 45536149 45536149 single base substitution T C downstream_gene_variant ESAD-UK 21 45536149 45536149 single base substitution T C intron_variant ESAD-UK 21 45536149 45536149 single base substitution T C upstream_gene_variant ESAD-UK 21 45536223 45536223 deletion of <=200bp G - downstream_gene_variant ESAD-UK 21 45536223 45536223 deletion of <=200bp G - intron_variant ESAD-UK 21 45536223 45536223 deletion of <=200bp G - upstream_gene_variant ESAD-UK 21 45540522 45540522 single base substitution T G downstream_gene_variant ESAD-UK 21 45540522 45540522 single base substitution T G exon_variant ESAD-UK 21 45540522 45540522 single base substitution T G missense_variant F450V 1348T>G ESAD-UK 21 45541431 45541431 single base substitution C T downstream_gene_variant ESAD-UK 21 45541431 45541431 single base substitution C T exon_variant ESAD-UK 21 45541431 45541431 single base substitution C T intron_variant ESAD-UK 21 45541431 45541431 single base substitution C T upstream_gene_variant ESAD-UK 21 45542225 45542225 single base substitution G A downstream_gene_variant ESAD-UK 21 45542225 45542225 single base substitution G A exon_variant ESAD-UK 21 45542225 45542225 single base substitution G A missense_variant A602T 1804G>A ESAD-UK 21 45542225 45542225 single base substitution G A upstream_gene_variant ESAD-UK 21 45545991 45545991 single base substitution G A exon_variant ESAD-UK 21 45545991 45545991 single base substitution G A missense_variant V689I 2065G>A ESAD-UK 21 45545991 45545991 single base substitution G A upstream_gene_variant ESAD-UK 21 45547012 45547012 single base substitution C T exon_variant ESAD-UK 21 45547012 45547012 single base substitution C T intron_variant ESAD-UK 21 45547012 45547012 single base substitution C T upstream_gene_variant ESAD-UK 21 45551046 45551046 deletion of <=200bp A - 3_prime_UTR_variant ESAD-UK 21 45551046 45551046 deletion of <=200bp A - downstream_gene_variant ESAD-UK 21 45554155 45554155 single base substitution C T downstream_gene_variant ESAD-UK 21 45555018 45555018 single base substitution C T downstream_gene_variant ESCA-CN 21 45540338 45540338 single base substitution C T downstream_gene_variant ESCA-CN 21 45540338 45540338 single base substitution C T exon_variant ESCA-CN 21 45540338 45540338 single base substitution C T missense_variant S433L 1298C>T ESCA-CN 21 45542128 45542128 single base substitution C T downstream_gene_variant ESCA-CN 21 45542128 45542128 single base substitution C T exon_variant ESCA-CN 21 45542128 45542128 single base substitution C T synonymous_variant F569F 1707C>T ESCA-CN 21 45542128 45542128 single base substitution C T upstream_gene_variant ESCA-CN 21 45544509 45544509 single base substitution G C exon_variant ESCA-CN 21 45544509 45544509 single base substitution G C synonymous_variant A622A 1866G>C ESCA-CN 21 45544509 45544509 single base substitution G C upstream_gene_variant GBM-US 21 45545899 45545899 single base substitution T C exon_variant GBM-US 21 45545899 45545899 single base substitution T C missense_variant L658S 1973T>C GBM-US 21 45545899 45545899 single base substitution T C upstream_gene_variant KIRC-US 21 45523389 45523389 insertion of <=200bp - T upstream_gene_variant KIRP-US 21 45534138 45534138 single base substitution T C intron_variant KIRP-US 21 45534138 45534138 single base substitution T C missense_variant V102A 305T>C KIRP-US 21 45534138 45534138 single base substitution T C upstream_gene_variant LGG-US 21 45540355 45540355 single base substitution G A downstream_gene_variant LGG-US 21 45540355 45540355 single base substitution G A exon_variant LGG-US 21 45540355 45540355 single base substitution G A missense_variant V439M 1315G>A LICA-FR 21 45539101 45539101 single base substitution T G downstream_gene_variant LICA-FR 21 45539101 45539101 single base substitution T G exon_variant LICA-FR 21 45539101 45539101 single base substitution T G intron_variant LICA-FR 21 45551563 45551566 deletion of <=200bp TATC - downstream_gene_variant LIHC-US 21 45534063 45534063 single base substitution G A intron_variant LIHC-US 21 45534063 45534063 single base substitution G A missense_variant G77D 230G>A LIHC-US 21 45534063 45534063 single base substitution G A upstream_gene_variant LIHC-US 21 45553649 45553649 single base substitution G A downstream_gene_variant LINC-JP 21 45530191 45530191 single base substitution A C intron_variant LINC-JP 21 45530191 45530191 single base substitution A C upstream_gene_variant LINC-JP 21 45535501 45535501 single base substitution G A intron_variant LINC-JP 21 45535501 45535501 single base substitution G A upstream_gene_variant LINC-JP 21 45535607 45535607 single base substitution G A exon_variant LINC-JP 21 45535607 45535607 single base substitution G A missense_variant C181Y 542G>A LINC-JP 21 45535607 45535607 single base substitution G A missense_variant M214I 642G>A LINC-JP 21 45535607 45535607 single base substitution G A upstream_gene_variant LINC-JP 21 45544705 45544705 single base substitution G T exon_variant LINC-JP 21 45544705 45544705 single base substitution G T intron_variant LINC-JP 21 45544705 45544705 single base substitution G T upstream_gene_variant LINC-JP 21 45546310 45546310 single base substitution C T intron_variant LINC-JP 21 45546310 45546310 single base substitution C T upstream_gene_variant LINC-JP 21 45546793 45546793 single base substitution C A exon_variant LINC-JP 21 45546793 45546793 single base substitution C A missense_variant S696Y 2087C>A LINC-JP 21 45546793 45546793 single base substitution C A upstream_gene_variant LIRI-JP 21 45528984 45528984 single base substitution A G splice_region_variant LIRI-JP 21 45539049 45539049 single base substitution A C downstream_gene_variant LIRI-JP 21 45539049 45539049 single base substitution A C exon_variant LIRI-JP 21 45539049 45539049 single base substitution A C intron_variant LIRI-JP 21 45541450 45541450 single base substitution C T downstream_gene_variant LIRI-JP 21 45541450 45541450 single base substitution C T exon_variant LIRI-JP 21 45541450 45541450 single base substitution C T intron_variant LIRI-JP 21 45541450 45541450 single base substitution C T upstream_gene_variant LIRI-JP 21 45542189 45542189 single base substitution G A downstream_gene_variant LIRI-JP 21 45542189 45542189 single base substitution G A exon_variant LIRI-JP 21 45542189 45542189 single base substitution G A missense_variant G590S 1768G>A LIRI-JP 21 45542189 45542189 single base substitution G A upstream_gene_variant LIRI-JP 21 45546294 45546294 single base substitution G A intron_variant LIRI-JP 21 45546294 45546294 single base substitution G A upstream_gene_variant LIRI-JP 21 45548833 45548833 single base substitution A C downstream_gene_variant LIRI-JP 21 45548833 45548833 single base substitution A C intron_variant LIRI-JP 21 45550182 45550182 single base substitution T A downstream_gene_variant LIRI-JP 21 45550182 45550182 single base substitution T A intron_variant LIRI-JP 21 45550439 45550439 single base substitution G A downstream_gene_variant LIRI-JP 21 45550439 45550439 single base substitution G A intron_variant LIRI-JP 21 45551030 45551030 single base substitution G T 3_prime_UTR_variant LIRI-JP 21 45551030 45551030 single base substitution G T downstream_gene_variant LUSC-KR 21 45523416 45523416 single base substitution C T upstream_gene_variant LUSC-KR 21 45537172 45537172 single base substitution G A downstream_gene_variant LUSC-KR 21 45537172 45537172 single base substitution G A intron_variant LUSC-KR 21 45537172 45537172 single base substitution G A upstream_gene_variant LUSC-KR 21 45538647 45538647 single base substitution T C downstream_gene_variant LUSC-KR 21 45538647 45538647 single base substitution T C synonymous_variant I328I 984T>C LUSC-KR 21 45538647 45538647 single base substitution T C upstream_gene_variant LUSC-KR 21 45546090 45546090 single base substitution G T intron_variant LUSC-KR 21 45546090 45546090 single base substitution G T upstream_gene_variant LUSC-KR 21 45546363 45546363 single base substitution A T intron_variant LUSC-KR 21 45546363 45546363 single base substitution A T upstream_gene_variant LUSC-KR 21 45547913 45547913 single base substitution C A downstream_gene_variant LUSC-KR 21 45547913 45547913 single base substitution C A exon_variant LUSC-KR 21 45547913 45547913 single base substitution C A synonymous_variant P747P 2241C>A LUSC-KR 21 45550876 45550876 single base substitution C T 3_prime_UTR_variant LUSC-KR 21 45550876 45550876 single base substitution C T downstream_gene_variant LUSC-KR 21 45551085 45551085 single base substitution C T downstream_gene_variant LUSC-KR 21 45553869 45553869 single base substitution G T downstream_gene_variant LUSC-US 21 45535237 45535237 single base substitution A T exon_variant LUSC-US 21 45535237 45535237 single base substitution A T missense_variant K188M 563A>T LUSC-US 21 45535237 45535237 single base substitution A T missense_variant R155W 463A>T LUSC-US 21 45535237 45535237 single base substitution A T upstream_gene_variant LUSC-US 21 45547881 45547881 single base substitution G A downstream_gene_variant LUSC-US 21 45547881 45547881 single base substitution G A exon_variant LUSC-US 21 45547881 45547881 single base substitution G A missense_variant D737N 2209G>A LUSC-US 21 45548185 45548185 single base substitution T C downstream_gene_variant LUSC-US 21 45548185 45548185 single base substitution T C exon_variant LUSC-US 21 45548185 45548185 single base substitution T C missense_variant L806S 2417T>C MALY-DE 21 45524804 45524804 single base substitution T G upstream_gene_variant MALY-DE 21 45526416 45526416 single base substitution A C upstream_gene_variant MALY-DE 21 45526807 45526807 single base substitution A T upstream_gene_variant MALY-DE 21 45527838 45527838 single base substitution G A intron_variant MALY-DE 21 45551205 45551205 single base substitution G A downstream_gene_variant MELA-AU 21 45522172 45522172 single base substitution C T upstream_gene_variant MELA-AU 21 45522481 45522481 single base substitution T C upstream_gene_variant MELA-AU 21 45522747 45522747 single base substitution C T upstream_gene_variant MELA-AU 21 45523104 45523104 single base substitution C T upstream_gene_variant MELA-AU 21 45523841 45523841 single base substitution C T upstream_gene_variant MELA-AU 21 45524302 45524302 single base substitution C T upstream_gene_variant MELA-AU 21 45524426 45524426 single base substitution C T upstream_gene_variant MELA-AU 21 45525104 45525104 single base substitution G A upstream_gene_variant MELA-AU 21 45525671 45525671 single base substitution T G upstream_gene_variant MELA-AU 21 45527035 45527035 single base substitution C T upstream_gene_variant MELA-AU 21 45527071 45527071 single base substitution C T upstream_gene_variant MELA-AU 21 45527089 45527089 single base substitution C T upstream_gene_variant MELA-AU 21 45527357 45527357 single base substitution C T intron_variant MELA-AU 21 45527705 45527705 single base substitution G A intron_variant MELA-AU 21 45528060 45528060 single base substitution G A intron_variant MELA-AU 21 45529230 45529230 single base substitution C T intron_variant MELA-AU 21 45529248 45529248 single base substitution C T intron_variant MELA-AU 21 45529867 45529867 single base substitution C T intron_variant MELA-AU 21 45529867 45529867 single base substitution C T upstream_gene_variant MELA-AU 21 45530581 45530581 single base substitution C T intron_variant MELA-AU 21 45530581 45530581 single base substitution C T upstream_gene_variant MELA-AU 21 45531080 45531080 single base substitution C T intron_variant MELA-AU 21 45531080 45531080 single base substitution C T upstream_gene_variant MELA-AU 21 45531584 45531584 single base substitution A C intron_variant MELA-AU 21 45531584 45531584 single base substitution A C upstream_gene_variant MELA-AU 21 45532312 45532312 single base substitution G A intron_variant MELA-AU 21 45532312 45532312 single base substitution G A upstream_gene_variant MELA-AU 21 45532529 45532529 deletion of <=200bp T - intron_variant MELA-AU 21 45532529 45532529 deletion of <=200bp T - upstream_gene_variant MELA-AU 21 45532593 45532593 single base substitution C T intron_variant MELA-AU 21 45532593 45532593 single base substitution C T upstream_gene_variant MELA-AU 21 45533349 45533349 single base substitution T G intron_variant MELA-AU 21 45533349 45533349 single base substitution T G upstream_gene_variant MELA-AU 21 45533468 45533468 single base substitution T A intron_variant MELA-AU 21 45533468 45533468 single base substitution T A upstream_gene_variant MELA-AU 21 45533571 45533571 single base substitution C T intron_variant MELA-AU 21 45533571 45533571 single base substitution C T upstream_gene_variant MELA-AU 21 45534412 45534412 single base substitution C T intron_variant MELA-AU 21 45534412 45534412 single base substitution C T upstream_gene_variant MELA-AU 21 45534598 45534598 single base substitution A G exon_variant MELA-AU 21 45534598 45534598 single base substitution A G missense_variant I107V 319A>G MELA-AU 21 45534598 45534598 single base substitution A G missense_variant Y140C 419A>G MELA-AU 21 45534598 45534598 single base substitution A G upstream_gene_variant MELA-AU 21 45535024 45535024 single base substitution G A intron_variant MELA-AU 21 45535024 45535024 single base substitution G A upstream_gene_variant MELA-AU 21 45535133 45535133 single base substitution C T intron_variant MELA-AU 21 45535133 45535133 single base substitution C T upstream_gene_variant MELA-AU 21 45535174 45535174 single base substitution C T exon_variant MELA-AU 21 45535174 45535174 single base substitution C T missense_variant P134S 400C>T MELA-AU 21 45535174 45535174 single base substitution C T missense_variant S167F 500C>T MELA-AU 21 45535174 45535174 single base substitution C T upstream_gene_variant MELA-AU 21 45535372 45535372 single base substitution T C intron_variant MELA-AU 21 45535372 45535372 single base substitution T C upstream_gene_variant MELA-AU 21 45535375 45535375 single base substitution C T intron_variant MELA-AU 21 45535375 45535375 single base substitution C T upstream_gene_variant MELA-AU 21 45535387 45535387 single base substitution C T intron_variant MELA-AU 21 45535387 45535387 single base substitution C T upstream_gene_variant MELA-AU 21 45535414 45535414 single base substitution C T intron_variant MELA-AU 21 45535414 45535414 single base substitution C T upstream_gene_variant MELA-AU 21 45535676 45535676 single base substitution G A downstream_gene_variant MELA-AU 21 45535676 45535676 single base substitution G A exon_variant MELA-AU 21 45535676 45535676 single base substitution G A synonymous_variant L237L 711G>A MELA-AU 21 45535676 45535676 single base substitution G A upstream_gene_variant MELA-AU 21 45535974 45535975 multiple base substitution (>=2bp and <=200bp) CC TT downstream_gene_variant MELA-AU 21 45535974 45535975 multiple base substitution (>=2bp and <=200bp) CC TT intron_variant MELA-AU 21 45535974 45535975 multiple base substitution (>=2bp and <=200bp) CC TT upstream_gene_variant MELA-AU 21 45536269 45536269 single base substitution C T downstream_gene_variant MELA-AU 21 45536269 45536269 single base substitution C T intron_variant MELA-AU 21 45536269 45536269 single base substitution C T upstream_gene_variant MELA-AU 21 45536555 45536555 single base substitution C T downstream_gene_variant MELA-AU 21 45536555 45536555 single base substitution C T intron_variant MELA-AU 21 45536555 45536555 single base substitution C T upstream_gene_variant MELA-AU 21 45536877 45536877 single base substitution C T downstream_gene_variant MELA-AU 21 45536877 45536877 single base substitution C T intron_variant MELA-AU 21 45536877 45536877 single base substitution C T upstream_gene_variant MELA-AU 21 45537126 45537126 single base substitution C T downstream_gene_variant MELA-AU 21 45537126 45537126 single base substitution C T intron_variant MELA-AU 21 45537126 45537126 single base substitution C T upstream_gene_variant MELA-AU 21 45537246 45537247 multiple base substitution (>=2bp and <=200bp) CC TT downstream_gene_variant MELA-AU 21 45537246 45537247 multiple base substitution (>=2bp and <=200bp) CC TT intron_variant MELA-AU 21 45537246 45537247 multiple base substitution (>=2bp and <=200bp) CC TT upstream_gene_variant MELA-AU 21 45537561 45537561 single base substitution G A downstream_gene_variant MELA-AU 21 45537561 45537561 single base substitution G A intron_variant MELA-AU 21 45537561 45537561 single base substitution G A upstream_gene_variant MELA-AU 21 45537568 45537569 multiple base substitution (>=2bp and <=200bp) GG AA downstream_gene_variant MELA-AU 21 45537568 45537569 multiple base substitution (>=2bp and <=200bp) GG AA intron_variant MELA-AU 21 45537568 45537569 multiple base substitution (>=2bp and <=200bp) GG AA upstream_gene_variant MELA-AU 21 45538174 45538174 single base substitution C T downstream_gene_variant MELA-AU 21 45538174 45538174 single base substitution C T intron_variant MELA-AU 21 45538174 45538174 single base substitution C T upstream_gene_variant MELA-AU 21 45538392 45538392 single base substitution C T downstream_gene_variant MELA-AU 21 45538392 45538392 single base substitution C T intron_variant MELA-AU 21 45538392 45538392 single base substitution C T upstream_gene_variant MELA-AU 21 45538419 45538419 single base substitution C T downstream_gene_variant MELA-AU 21 45538419 45538419 single base substitution C T intron_variant MELA-AU 21 45538419 45538419 single base substitution C T upstream_gene_variant MELA-AU 21 45538810 45538810 single base substitution C T downstream_gene_variant MELA-AU 21 45538810 45538810 single base substitution C T intron_variant MELA-AU 21 45538810 45538810 single base substitution C T upstream_gene_variant MELA-AU 21 45538817 45538817 single base substitution T C downstream_gene_variant MELA-AU 21 45538817 45538817 single base substitution T C intron_variant MELA-AU 21 45538817 45538817 single base substitution T C upstream_gene_variant MELA-AU 21 45538850 45538850 single base substitution C T downstream_gene_variant MELA-AU 21 45538850 45538850 single base substitution C T intron_variant MELA-AU 21 45538850 45538850 single base substitution C T upstream_gene_variant MELA-AU 21 45538914 45538914 single base substitution C T downstream_gene_variant MELA-AU 21 45538914 45538914 single base substitution C T intron_variant MELA-AU 21 45538914 45538914 single base substitution C T upstream_gene_variant MELA-AU 21 45539161 45539161 single base substitution C T downstream_gene_variant MELA-AU 21 45539161 45539161 single base substitution C T exon_variant MELA-AU 21 45539161 45539161 single base substitution C T intron_variant MELA-AU 21 45540167 45540167 single base substitution C T downstream_gene_variant MELA-AU 21 45540167 45540167 single base substitution C T intron_variant MELA-AU 21 45540193 45540193 single base substitution T C downstream_gene_variant MELA-AU 21 45540193 45540193 single base substitution T C intron_variant MELA-AU 21 45540595 45540595 single base substitution C T downstream_gene_variant MELA-AU 21 45540595 45540595 single base substitution C T exon_variant MELA-AU 21 45540595 45540595 single base substitution C T missense_variant S474F 1421C>T MELA-AU 21 45541111 45541111 single base substitution C T downstream_gene_variant MELA-AU 21 45541111 45541111 single base substitution C T exon_variant MELA-AU 21 45541111 45541111 single base substitution C T intron_variant MELA-AU 21 45541111 45541111 single base substitution C T upstream_gene_variant MELA-AU 21 45541199 45541199 single base substitution C T downstream_gene_variant MELA-AU 21 45541199 45541199 single base substitution C T exon_variant MELA-AU 21 45541199 45541199 single base substitution C T intron_variant MELA-AU 21 45541199 45541199 single base substitution C T upstream_gene_variant MELA-AU 21 45541850 45541850 single base substitution C T downstream_gene_variant MELA-AU 21 45541850 45541850 single base substitution C T exon_variant MELA-AU 21 45541850 45541850 single base substitution C T intron_variant MELA-AU 21 45541850 45541850 single base substitution C T upstream_gene_variant MELA-AU 21 45542075 45542075 single base substitution C T downstream_gene_variant MELA-AU 21 45542075 45542075 single base substitution C T exon_variant MELA-AU 21 45542075 45542075 single base substitution C T missense_variant R552C 1654C>T MELA-AU 21 45542075 45542075 single base substitution C T upstream_gene_variant MELA-AU 21 45542489 45542489 single base substitution C T downstream_gene_variant MELA-AU 21 45542489 45542489 single base substitution C T intron_variant MELA-AU 21 45542489 45542489 single base substitution C T upstream_gene_variant MELA-AU 21 45542748 45542748 single base substitution G A intron_variant MELA-AU 21 45542748 45542748 single base substitution G A upstream_gene_variant MELA-AU 21 45542942 45542942 single base substitution C T intron_variant MELA-AU 21 45542942 45542942 single base substitution C T upstream_gene_variant MELA-AU 21 45543166 45543166 single base substitution T G intron_variant MELA-AU 21 45543166 45543166 single base substitution T G upstream_gene_variant MELA-AU 21 45543316 45543316 single base substitution C T intron_variant MELA-AU 21 45543316 45543316 single base substitution C T upstream_gene_variant MELA-AU 21 45544539 45544539 single base substitution C T exon_variant MELA-AU 21 45544539 45544539 single base substitution C T synonymous_variant Y632Y 1896C>T MELA-AU 21 45544539 45544539 single base substitution C T upstream_gene_variant MELA-AU 21 45544631 45544631 single base substitution G A exon_variant MELA-AU 21 45544631 45544631 single base substitution G A intron_variant MELA-AU 21 45544631 45544631 single base substitution G A upstream_gene_variant MELA-AU 21 45544965 45544965 single base substitution C T exon_variant MELA-AU 21 45544965 45544965 single base substitution C T intron_variant MELA-AU 21 45544965 45544965 single base substitution C T upstream_gene_variant MELA-AU 21 45545888 45545889 multiple base substitution (>=2bp and <=200bp) CT TC exon_variant MELA-AU 21 45545888 45545889 multiple base substitution (>=2bp and <=200bp) CT TC splice_region_variant MELA-AU 21 45545888 45545889 multiple base substitution (>=2bp and <=200bp) CT TC upstream_gene_variant MELA-AU 21 45546472 45546472 single base substitution T C intron_variant MELA-AU 21 45546472 45546472 single base substitution T C upstream_gene_variant MELA-AU 21 45547159 45547159 single base substitution C T exon_variant MELA-AU 21 45547159 45547159 single base substitution C T intron_variant MELA-AU 21 45547159 45547159 single base substitution C T upstream_gene_variant MELA-AU 21 45547826 45547826 single base substitution G A downstream_gene_variant MELA-AU 21 45547826 45547826 single base substitution G A exon_variant MELA-AU 21 45547826 45547826 single base substitution G A synonymous_variant A718A 2154G>A MELA-AU 21 45548147 45548147 single base substitution C T downstream_gene_variant MELA-AU 21 45548147 45548147 single base substitution C T exon_variant MELA-AU 21 45548147 45548147 single base substitution C T synonymous_variant S793S 2379C>T MELA-AU 21 45548195 45548195 single base substitution C T downstream_gene_variant MELA-AU 21 45548195 45548195 single base substitution C T exon_variant MELA-AU 21 45548195 45548195 single base substitution C T synonymous_variant S809S 2427C>T MELA-AU 21 45548304 45548304 single base substitution C T downstream_gene_variant MELA-AU 21 45548304 45548304 single base substitution C T intron_variant MELA-AU 21 45548425 45548425 single base substitution C T downstream_gene_variant MELA-AU 21 45548425 45548425 single base substitution C T intron_variant MELA-AU 21 45548425 45548425 single base substitution C T splice_region_variant MELA-AU 21 45548527 45548527 single base substitution C T downstream_gene_variant MELA-AU 21 45548527 45548527 single base substitution C T exon_variant MELA-AU 21 45548527 45548527 single base substitution C T intron_variant MELA-AU 21 45548563 45548563 single base substitution C T downstream_gene_variant MELA-AU 21 45548563 45548563 single base substitution C T intron_variant MELA-AU 21 45549511 45549511 single base substitution C T downstream_gene_variant MELA-AU 21 45549511 45549511 single base substitution C T intron_variant MELA-AU 21 45551262 45551262 single base substitution G A downstream_gene_variant MELA-AU 21 45552986 45552986 single base substitution C T downstream_gene_variant MELA-AU 21 45553222 45553222 single base substitution G A downstream_gene_variant MELA-AU 21 45553365 45553365 single base substitution G A downstream_gene_variant MELA-AU 21 45553366 45553366 single base substitution G A downstream_gene_variant MELA-AU 21 45553369 45553369 single base substitution G A downstream_gene_variant MELA-AU 21 45553381 45553381 single base substitution G A downstream_gene_variant MELA-AU 21 45553387 45553387 single base substitution C T downstream_gene_variant MELA-AU 21 45553416 45553416 single base substitution C T downstream_gene_variant MELA-AU 21 45553421 45553421 single base substitution C T downstream_gene_variant MELA-AU 21 45553436 45553436 single base substitution C T downstream_gene_variant MELA-AU 21 45553489 45553489 single base substitution G A downstream_gene_variant MELA-AU 21 45554852 45554852 single base substitution T A downstream_gene_variant MELA-AU 21 45555472 45555472 single base substitution G A downstream_gene_variant ORCA-IN 21 45534634 45534634 single base substitution G T exon_variant ORCA-IN 21 45534634 45534634 single base substitution G T missense_variant W152L 455G>T ORCA-IN 21 45534634 45534634 single base substitution G T stop_gained G119* 355G>T ORCA-IN 21 45534634 45534634 single base substitution G T upstream_gene_variant ORCA-IN 21 45541234 45541234 single base substitution A C downstream_gene_variant ORCA-IN 21 45541234 45541234 single base substitution A C exon_variant ORCA-IN 21 45541234 45541234 single base substitution A C intron_variant ORCA-IN 21 45541234 45541234 single base substitution A C upstream_gene_variant ORCA-IN 21 45542588 45542588 single base substitution G A downstream_gene_variant ORCA-IN 21 45542588 45542588 single base substitution G A intron_variant ORCA-IN 21 45542588 45542588 single base substitution G A upstream_gene_variant OV-AU 21 45523944 45523944 single base substitution T G upstream_gene_variant OV-AU 21 45524610 45524610 single base substitution C A upstream_gene_variant OV-AU 21 45533634 45533634 single base substitution C T splice_region_variant OV-AU 21 45533634 45533634 single base substitution C T upstream_gene_variant OV-AU 21 45538845 45538845 single base substitution T A downstream_gene_variant OV-AU 21 45538845 45538845 single base substitution T A intron_variant OV-AU 21 45538845 45538845 single base substitution T A upstream_gene_variant OV-AU 21 45544698 45544698 single base substitution G A exon_variant OV-AU 21 45544698 45544698 single base substitution G A intron_variant OV-AU 21 45544698 45544698 single base substitution G A upstream_gene_variant OV-AU 21 45545120 45545120 single base substitution C G exon_variant OV-AU 21 45545120 45545120 single base substitution C G intron_variant OV-AU 21 45545120 45545120 single base substitution C G upstream_gene_variant OV-AU 21 45549098 45549098 single base substitution G C downstream_gene_variant OV-AU 21 45549098 45549098 single base substitution G C intron_variant OV-AU 21 45553739 45553739 single base substitution T G downstream_gene_variant PACA-AU 21 45522759 45522759 insertion of <=200bp - G upstream_gene_variant PACA-AU 21 45528212 45528212 single base substitution C T intron_variant PACA-AU 21 45532593 45532593 single base substitution C T intron_variant PACA-AU 21 45532593 45532593 single base substitution C T upstream_gene_variant PACA-AU 21 45533528 45533528 single base substitution A G intron_variant PACA-AU 21 45533528 45533528 single base substitution A G upstream_gene_variant PACA-AU 21 45540395 45540395 single base substitution G A downstream_gene_variant PACA-AU 21 45540395 45540395 single base substitution G A intron_variant PACA-AU 21 45542271 45542271 single base substitution A C downstream_gene_variant PACA-AU 21 45542271 45542271 single base substitution A C intron_variant PACA-AU 21 45542271 45542271 single base substitution A C upstream_gene_variant PACA-AU 21 45544277 45544277 single base substitution G C intron_variant PACA-AU 21 45544277 45544277 single base substitution G C upstream_gene_variant PACA-AU 21 45551783 45551783 single base substitution G C downstream_gene_variant PACA-AU 21 45552681 45552681 single base substitution C T downstream_gene_variant PACA-CA 21 45524359 45524359 single base substitution A G upstream_gene_variant PACA-CA 21 45528708 45528708 single base substitution A C intron_variant PACA-CA 21 45531197 45531197 single base substitution C T intron_variant PACA-CA 21 45531197 45531197 single base substitution C T upstream_gene_variant PACA-CA 21 45532003 45532003 single base substitution G A intron_variant PACA-CA 21 45532003 45532003 single base substitution G A upstream_gene_variant PACA-CA 21 45532944 45532944 single base substitution C T intron_variant PACA-CA 21 45532944 45532944 single base substitution C T upstream_gene_variant PACA-CA 21 45535691 45535691 single base substitution A G downstream_gene_variant PACA-CA 21 45535691 45535691 single base substitution A G exon_variant PACA-CA 21 45535691 45535691 single base substitution A G synonymous_variant E242E 726A>G PACA-CA 21 45535691 45535691 single base substitution A G upstream_gene_variant PACA-CA 21 45543267 45543267 single base substitution C T intron_variant PACA-CA 21 45543267 45543267 single base substitution C T upstream_gene_variant PACA-CA 21 45544864 45544864 single base substitution C T exon_variant PACA-CA 21 45544864 45544864 single base substitution C T intron_variant PACA-CA 21 45544864 45544864 single base substitution C T upstream_gene_variant PACA-CA 21 45548512 45548512 single base substitution G A downstream_gene_variant PACA-CA 21 45548512 45548512 single base substitution G A exon_variant PACA-CA 21 45548512 45548512 single base substitution G A splice_region_variant PAEN-AU 21 45552003 45552003 single base substitution G A downstream_gene_variant PBCA-DE 21 45528278 45528278 single base substitution G A intron_variant PBCA-DE 21 45532838 45532838 deletion of <=200bp T - intron_variant PBCA-DE 21 45532838 45532838 deletion of <=200bp T - upstream_gene_variant PBCA-DE 21 45542298 45542298 single base substitution G C downstream_gene_variant PBCA-DE 21 45542298 45542298 single base substitution G C intron_variant PBCA-DE 21 45542298 45542298 single base substitution G C upstream_gene_variant PBCA-DE 21 45543442 45543442 single base substitution G A intron_variant PBCA-DE 21 45543442 45543442 single base substitution G A upstream_gene_variant PBCA-DE 21 45548704 45548704 single base substitution A T downstream_gene_variant PBCA-DE 21 45548704 45548704 single base substitution A T intron_variant PRAD-CA 21 45553531 45553531 single base substitution C A downstream_gene_variant PRAD-CA 21 45554471 45554471 single base substitution C T downstream_gene_variant PRAD-UK 21 45550486 45550486 single base substitution T G downstream_gene_variant PRAD-UK 21 45550486 45550486 single base substitution T G missense_variant W865G 2593T>G PRAD-UK 21 45554797 45554797 single base substitution C G downstream_gene_variant PRAD-US 21 45523339 45523339 single base substitution A G upstream_gene_variant READ-US 21 45533649 45533649 single base substitution G A synonymous_variant T49T 147G>A READ-US 21 45533649 45533649 single base substitution G A upstream_gene_variant READ-US 21 45553580 45553580 single base substitution A G downstream_gene_variant RECA-EU 21 45535340 45535340 single base substitution G C intron_variant RECA-EU 21 45535340 45535340 single base substitution G C upstream_gene_variant RECA-EU 21 45536416 45536416 single base substitution C A downstream_gene_variant RECA-EU 21 45536416 45536416 single base substitution C A intron_variant RECA-EU 21 45536416 45536416 single base substitution C A upstream_gene_variant RECA-EU 21 45551343 45551343 single base substitution A G downstream_gene_variant SKCA-BR 21 45522823 45522823 single base substitution C T upstream_gene_variant SKCA-BR 21 45522840 45522840 single base substitution C T upstream_gene_variant SKCA-BR 21 45523950 45523950 single base substitution A G upstream_gene_variant SKCA-BR 21 45524729 45524729 single base substitution T G upstream_gene_variant SKCA-BR 21 45525927 45525927 single base substitution G A upstream_gene_variant SKCA-BR 21 45526570 45526571 deletion of <=200bp TA - upstream_gene_variant SKCA-BR 21 45527871 45527871 single base substitution T G intron_variant SKCA-BR 21 45530191 45530191 single base substitution A C intron_variant SKCA-BR 21 45530191 45530191 single base substitution A C upstream_gene_variant SKCA-BR 21 45533853 45533853 single base substitution A G intron_variant SKCA-BR 21 45533853 45533853 single base substitution A G upstream_gene_variant SKCA-BR 21 45533876 45533876 single base substitution T C intron_variant SKCA-BR 21 45533876 45533876 single base substitution T C upstream_gene_variant SKCA-BR 21 45536770 45536770 single base substitution G A downstream_gene_variant SKCA-BR 21 45536770 45536770 single base substitution G A intron_variant SKCA-BR 21 45536770 45536770 single base substitution G A upstream_gene_variant SKCA-BR 21 45536771 45536771 single base substitution G A downstream_gene_variant SKCA-BR 21 45536771 45536771 single base substitution G A intron_variant SKCA-BR 21 45536771 45536771 single base substitution G A upstream_gene_variant SKCA-BR 21 45538976 45538976 single base substitution C T downstream_gene_variant SKCA-BR 21 45538976 45538976 single base substitution C T intron_variant SKCA-BR 21 45538976 45538976 single base substitution C T upstream_gene_variant SKCA-BR 21 45539404 45539404 single base substitution G A downstream_gene_variant SKCA-BR 21 45539404 45539404 single base substitution G A splice_region_variant SKCA-BR 21 45539405 45539405 single base substitution G A downstream_gene_variant SKCA-BR 21 45539405 45539405 single base substitution G A splice_donor_variant SKCA-BR 21 45541870 45541870 single base substitution C T downstream_gene_variant SKCA-BR 21 45541870 45541870 single base substitution C T exon_variant SKCA-BR 21 45541870 45541870 single base substitution C T intron_variant SKCA-BR 21 45541870 45541870 single base substitution C T upstream_gene_variant SKCA-BR 21 45545713 45545713 single base substitution C T exon_variant SKCA-BR 21 45545713 45545713 single base substitution C T intron_variant SKCA-BR 21 45545713 45545713 single base substitution C T upstream_gene_variant SKCA-BR 21 45546584 45546584 single base substitution A C intron_variant SKCA-BR 21 45546584 45546584 single base substitution A C upstream_gene_variant SKCA-BR 21 45549012 45549012 single base substitution A G downstream_gene_variant SKCA-BR 21 45549012 45549012 single base substitution A G intron_variant SKCA-BR 21 45553363 45553371 deletion of <=200bp AAGGAAGAC - downstream_gene_variant SKCA-BR 21 45553366 45553366 single base substitution G A downstream_gene_variant SKCA-BR 21 45553369 45553369 single base substitution G A downstream_gene_variant SKCA-BR 21 45553436 45553436 single base substitution C T downstream_gene_variant SKCM-US 21 45522840 45522840 single base substitution C T upstream_gene_variant SKCM-US 21 45523216 45523216 single base substitution G A upstream_gene_variant SKCM-US 21 45523370 45523370 single base substitution C T upstream_gene_variant SKCM-US 21 45533653 45533653 single base substitution C T missense_variant P51S 151C>T SKCM-US 21 45533653 45533653 single base substitution C T upstream_gene_variant SKCM-US 21 45534562 45534562 single base substitution A C exon_variant SKCM-US 21 45534562 45534562 single base substitution A C missense_variant K128T 383A>C SKCM-US 21 45534562 45534562 single base substitution A C missense_variant S95R 283A>C SKCM-US 21 45534562 45534562 single base substitution A C upstream_gene_variant SKCM-US 21 45535577 45535577 single base substitution C T exon_variant SKCM-US 21 45535577 45535577 single base substitution C T missense_variant T171I 512C>T SKCM-US 21 45535577 45535577 single base substitution C T synonymous_variant Y204Y 612C>T SKCM-US 21 45535577 45535577 single base substitution C T upstream_gene_variant SKCM-US 21 45535698 45535698 single base substitution G A downstream_gene_variant SKCM-US 21 45535698 45535698 single base substitution G A exon_variant SKCM-US 21 45535698 45535698 single base substitution G A missense_variant E245K 733G>A SKCM-US 21 45535698 45535698 single base substitution G A upstream_gene_variant SKCM-US 21 45535741 45535741 single base substitution G A downstream_gene_variant SKCM-US 21 45535741 45535741 single base substitution G A exon_variant SKCM-US 21 45535741 45535741 single base substitution G A missense_variant G259E 776G>A SKCM-US 21 45535741 45535741 single base substitution G A upstream_gene_variant SKCM-US 21 45535744 45535744 single base substitution A G downstream_gene_variant SKCM-US 21 45535744 45535744 single base substitution A G exon_variant SKCM-US 21 45535744 45535744 single base substitution A G missense_variant K260R 779A>G SKCM-US 21 45535744 45535744 single base substitution A G upstream_gene_variant SKCM-US 21 45537723 45537723 single base substitution G A downstream_gene_variant SKCM-US 21 45537723 45537723 single base substitution G A exon_variant SKCM-US 21 45537723 45537723 single base substitution G A missense_variant D287N 859G>A SKCM-US 21 45537723 45537723 single base substitution G A upstream_gene_variant SKCM-US 21 45538649 45538649 single base substitution C T downstream_gene_variant SKCM-US 21 45538649 45538649 single base substitution C T missense_variant S329L 986C>T SKCM-US 21 45538649 45538649 single base substitution C T upstream_gene_variant SKCM-US 21 45540342 45540342 single base substitution C T downstream_gene_variant SKCM-US 21 45540342 45540342 single base substitution C T exon_variant SKCM-US 21 45540342 45540342 single base substitution C T synonymous_variant S434S 1302C>T SKCM-US 21 45540978 45540978 single base substitution C T downstream_gene_variant SKCM-US 21 45540978 45540978 single base substitution C T exon_variant SKCM-US 21 45540978 45540978 single base substitution C T missense_variant S544F 1631C>T SKCM-US 21 45540978 45540978 single base substitution C T upstream_gene_variant SKCM-US 21 45548195 45548195 single base substitution C T downstream_gene_variant SKCM-US 21 45548195 45548195 single base substitution C T exon_variant SKCM-US 21 45548195 45548195 single base substitution C T synonymous_variant S809S 2427C>T SKCM-US 21 45548478 45548478 single base substitution C T downstream_gene_variant SKCM-US 21 45548478 45548478 single base substitution C T exon_variant SKCM-US 21 45548478 45548478 single base substitution C T synonymous_variant I852I 2556C>T STAD-US 21 45534069 45534069 single base substitution C T intron_variant STAD-US 21 45534069 45534069 single base substitution C T missense_variant A79V 236C>T STAD-US 21 45534069 45534069 single base substitution C T upstream_gene_variant STAD-US 21 45534550 45534550 single base substitution C T exon_variant STAD-US 21 45534550 45534550 single base substitution C T missense_variant A124V 371C>T STAD-US 21 45534550 45534550 single base substitution C T missense_variant P91S 271C>T STAD-US 21 45534550 45534550 single base substitution C T upstream_gene_variant STAD-US 21 45535691 45535691 single base substitution A G downstream_gene_variant STAD-US 21 45535691 45535691 single base substitution A G exon_variant STAD-US 21 45535691 45535691 single base substitution A G synonymous_variant E242E 726A>G STAD-US 21 45535691 45535691 single base substitution A G upstream_gene_variant STAD-US 21 45540313 45540313 single base substitution G A downstream_gene_variant STAD-US 21 45540313 45540313 single base substitution G A exon_variant STAD-US 21 45540313 45540313 single base substitution G A missense_variant A425T 1273G>A STAD-US 21 45540348 45540348 single base substitution C T downstream_gene_variant STAD-US 21 45540348 45540348 single base substitution C T exon_variant STAD-US 21 45540348 45540348 single base substitution C T synonymous_variant D436D 1308C>T STAD-US 21 45540349 45540349 single base substitution G A downstream_gene_variant STAD-US 21 45540349 45540349 single base substitution G A exon_variant STAD-US 21 45540349 45540349 single base substitution G A missense_variant G437R 1309G>A STAD-US 21 45540377 45540377 single base substitution G T downstream_gene_variant STAD-US 21 45540377 45540377 single base substitution G T missense_variant R446M 1337G>T STAD-US 21 45540377 45540377 single base substitution G T splice_region_variant STAD-US 21 45544527 45544527 single base substitution C T exon_variant STAD-US 21 45544527 45544527 single base substitution C T synonymous_variant F628F 1884C>T STAD-US 21 45544527 45544527 single base substitution C T upstream_gene_variant STAD-US 21 45546795 45546795 single base substitution C T exon_variant STAD-US 21 45546795 45546795 single base substitution C T missense_variant R697W 2089C>T STAD-US 21 45546795 45546795 single base substitution C T upstream_gene_variant STAD-US 21 45547815 45547815 single base substitution C T downstream_gene_variant STAD-US 21 45547815 45547815 single base substitution C T exon_variant STAD-US 21 45547815 45547815 single base substitution C T missense_variant R715C 2143C>T STAD-US 21 45547815 45547815 single base substitution C T splice_region_variant STAD-US 21 45550604 45550604 single base substitution A G downstream_gene_variant STAD-US 21 45550604 45550604 single base substitution A G missense_variant H904R 2711A>G THCA-SA 21 45550959 45550959 single base substitution C T 3_prime_UTR_variant THCA-SA 21 45550959 45550959 single base substitution C T downstream_gene_variant THCA-US 21 45542148 45542148 single base substitution T A downstream_gene_variant THCA-US 21 45542148 45542148 single base substitution T A exon_variant THCA-US 21 45542148 45542148 single base substitution T A missense_variant V576E 1727T>A THCA-US 21 45542148 45542148 single base substitution T A upstream_gene_variant UCEC-US 21 45522765 45522765 single base substitution G A upstream_gene_variant UCEC-US 21 45523260 45523260 single base substitution G A upstream_gene_variant UCEC-US 21 45535193 45535193 single base substitution C T exon_variant UCEC-US 21 45535193 45535193 single base substitution C T missense_variant P140L 419C>T UCEC-US 21 45535193 45535193 single base substitution C T synonymous_variant A173A 519C>T UCEC-US 21 45535193 45535193 single base substitution C T upstream_gene_variant UCEC-US 21 45535214 45535214 single base substitution C T exon_variant UCEC-US 21 45535214 45535214 single base substitution C T missense_variant S147F 440C>T UCEC-US 21 45535214 45535214 single base substitution C T synonymous_variant I180I 540C>T UCEC-US 21 45535214 45535214 single base substitution C T upstream_gene_variant UCEC-US 21 45535739 45535739 insertion of <=200bp - GGAAA downstream_gene_variant UCEC-US 21 45535739 45535739 insertion of <=200bp - GGAAA exon_variant UCEC-US 21 45535739 45535739 insertion of <=200bp - GGAAA frameshift_variant R258RE? UCEC-US 21 45535739 45535739 insertion of <=200bp - GGAAA upstream_gene_variant UCEC-US 21 45537717 45537717 single base substitution G T downstream_gene_variant UCEC-US 21 45537717 45537717 single base substitution G T exon_variant UCEC-US 21 45537717 45537717 single base substitution G T stop_gained E285* 853G>T UCEC-US 21 45537717 45537717 single base substitution G T upstream_gene_variant UCEC-US 21 45545905 45545905 single base substitution G A exon_variant UCEC-US 21 45545905 45545905 single base substitution G A missense_variant R660Q 1979G>A UCEC-US 21 45545905 45545905 single base substitution G A upstream_gene_variant UCEC-US 21 45546835 45546835 single base substitution T A exon_variant UCEC-US 21 45546835 45546835 single base substitution T A missense_variant F710Y 2129T>A UCEC-US 21 45546835 45546835 single base substitution T A upstream_gene_variant UCEC-US 21 45548014 45548014 single base substitution C T downstream_gene_variant UCEC-US 21 45548014 45548014 single base substitution C T exon_variant UCEC-US 21 45548014 45548014 single base substitution C T missense_variant A781V 2342C>T UCEC-US 21 45548493 45548493 single base substitution C T downstream_gene_variant UCEC-US 21 45548493 45548493 single base substitution C T exon_variant UCEC-US 21 45548493 45548493 single base substitution C T synonymous_variant D857D 2571C>T UCEC-US 21 45548494 45548494 single base substitution G A downstream_gene_variant UCEC-US 21 45548494 45548494 single base substitution G A exon_variant UCEC-US 21 45548494 45548494 single base substitution G A missense_variant D858N 2572G>A UCEC-US 21 45548501 45548501 single base substitution C T downstream_gene_variant UCEC-US 21 45548501 45548501 single base substitution C T exon_variant UCEC-US 21 45548501 45548501 single base substitution C T missense_variant S860L 2579C>T

Mutation - COSMIC Sample Name Mutation ID Mutation CDS Mutation AA Mutation Description Mutation Genome Position Mutation Strand TCGA-AA-3966-01 COSM273165 c.282C>T p.H94H Substitution - coding silent 21:44114234-44114234 + ESCC-098T COSM3939515 c.1866G>C p.A622A Substitution - coding silent 21:44124628-44124628 + 2492723 COSM4480856 c.2460C>T p.L820L Substitution - coding silent 21:44128347-44128347 + TCGA-DU-6394-01 COSM3972798 c.1315G>A p.V439M Substitution - Missense 21:44120474-44120474 + TCGA-D1-A101-01 COSM1031217 c.1309G>A p.G437R Substitution - Missense 21:44120468-44120468 + TCGA-76-6656-01 COSM3405436 c.1973T>C p.L658S Substitution - Missense 21:44126018-44126018 + CSCC-20-T COSM4479990 c.2378C>T p.S793F Substitution - Missense 21:44128265-44128265 + 2530678 COSM5885896 c.471-8delT p.? Unknown 21:44115256-44115256 + CoCM-1 COSM4621107 c.1239G>A p.E413E Substitution - coding silent 21:44120398-44120398 + CSCC-31-T COSM4480856 c.2460C>T p.L820L Substitution - coding silent 21:44128347-44128347 + TCGA-RC-A7S9-01 COSM4940289 c.230G>A p.G77D Substitution - Missense 21:44114182-44114182 + T3021 COSM4719527 c.877G>A p.A293T Substitution - Missense 21:44117860-44117860 + 4_PRE-TREATMENT COSM1724244 c.776G>A p.G259E Substitution - Missense 21:44115860-44115860 + T3503 COSM4719524 c.183delG p.L63fs*164 Deletion - Frameshift 21:44113804-44113804 + T3064 COSM4719533 c.2617G>A p.A873T Substitution - Missense 21:44130628-44130628 + NCI-H226 COSM1196740 c.2188C>G p.L730V Substitution - Missense 21:44127979-44127979 + TCGA-HF-7132-01 COSM4101908 c.2711A>G p.H904R Substitution - Missense 21:44130722-44130722 + LN18 COSM5712966 c.1179C>T p.D393D Substitution - coding silent 21:44119514-44119514 + TCGA-HU-A4GX-01 COSM4101905 c.1884C>T p.F628F Substitution - coding silent 21:44124646-44124646 + Pat_01_B COSM5858725 c.2047G>A p.A683T Substitution - Missense 21:44126092-44126092 + 587234 COSM1222791 c.1339T>C p.Y447H Substitution - Missense 21:44120632-44120632 + sysucc-274T COSM2820487 c.2200G>A p.V734M Substitution - Missense 21:44127991-44127991 + LUAD-S01320 COSM385792 c.1435G>A p.D479N Substitution - Missense 21:44120728-44120728 + C135 COSM4618106 c.2616C>T p.Y872Y Substitution - coding silent 21:44130627-44130627 + ESCC_65 COSM5633597 c.585C>G p.F195L Substitution - Missense 21:44115378-44115378 + TCGA-Q1-A73O-01 COSM4836067 c.1004C>T p.S335L Substitution - Missense 21:44118786-44118786 + TCGA-ET-A25I-01 COSM3371825 c.1727T>A p.V576E Substitution - Missense 21:44122267-44122267 + TCGA-BR-4292-01 COSM4101901 c.726A>G p.E242E Substitution - coding silent 21:44115810-44115810 + PT09_1 COSM5895093 c.1726G>A p.V576M Substitution - Missense 21:44122266-44122266 + TCGA-EJ-7125-01 COSM3673200 c.386G>T p.R129L Substitution - Missense 21:44114684-44114684 + IGROV-1 COSM1684640 c.334_335delGT p.V112fs*5 Deletion - Frameshift 21:44114632-44114633 + LC_C18 COSM1190370 c.809G>A p.G270E Substitution - Missense 21:44115893-44115893 + TCGA-DM-A0XF-01 COSM1414357 c.2353G>T p.G785C Substitution - Missense 21:44128144-44128144 + TCGA-BR-4361-01 COSM4101900 c.371C>T p.A124V Substitution - Missense 21:44114669-44114669 + TCGA-BG-A18C-01 COSM1031212 c.111C>T p.V37V Substitution - coding silent 21:44109076-44109076 + LP6005500-DNA_H01 COSM5035890 c.1804G>A p.A602T Substitution - Missense 21:44122344-44122344 + TCGA-B5-A11E-01 COSM1031216 c.853G>T p.E285* Substitution - Nonsense 21:44117836-44117836 + TCGA-EE-A2GD-06 COSM3551305 c.859G>A p.D287N Substitution - Missense 21:44117842-44117842 + CSCC-32-T COSM4537340 c.2409G>A p.L803L Substitution - coding silent 21:44128296-44128296 + SNU-175 COSM2820490 c.2284G>A p.A762T Substitution - Missense 21:44128075-44128075 + TCGA-FU-A23L-01 COSM461336 c.2351G>A p.R784K Substitution - Missense 21:44128142-44128142 + BD185T COSM5501154 c.2264G>T p.R755L Substitution - Missense 21:44128055-44128055 + 2290929 COSM4440620 c.1258G>A p.G420S Substitution - Missense 21:44120417-44120417 + TCGA-BR-4184-01 COSM4101899 c.236C>T p.A79V Substitution - Missense 21:44114188-44114188 + NB-2074 COSM1287482 c.2233G>A p.V745I Substitution - Missense 21:44128024-44128024 + LIM2551 COSM4644336 c.1807G>A p.A603T Substitution - Missense 21:44122347-44122347 + TCGA-AR-A1AJ-01 COSM444565 c.1989G>A p.M663I Substitution - Missense 21:44126034-44126034 + TCGA-AP-A0LG-01 COSM1031213 c.519C>T p.A173A Substitution - coding silent 21:44115312-44115312 + YUKLAB COSM1714065 c.2632A>C p.K878Q Substitution - Missense 21:44130643-44130643 + 2492720 COSM4480856 c.2460C>T p.L820L Substitution - coding silent 21:44128347-44128347 + CRC-19T COSM5481637 c.2166G>A p.T722T Substitution - coding silent 21:44127957-44127957 + T3658 COSM4719530 c.1501G>A p.E501K Substitution - Missense 21:44120967-44120967 + BD236T COSM5519773 c.900T>C p.S300S Substitution - coding silent 21:44117883-44117883 + CSCC-29-T COSM4510349 c.834C>T p.A278A Substitution - coding silent 21:44115918-44115918 + YUVAIL COSM1714064 c.659_660CC>TT p.P220L Substitution - Missense 21:44115743-44115744 + TCGA-CG-5723-01 COSM4101903 c.1308C>T p.D436D Substitution - coding silent 21:44120467-44120467 + Pat_41_B COSM5858726 c.2156C>T p.A719V Substitution - Missense 21:44127947-44127947 + SNU-C2B COSM4651430 c.1323C>A p.A441A Substitution - coding silent 21:44120482-44120482 + TCGA-D1-A17Q-01 COSM1031219 c.1979G>A p.R660Q Substitution - Missense 21:44126024-44126024 + CSCC-44-T COSM4476595 c.207C>T p.L69L Substitution - coding silent 21:44113828-44113828 + SW48 COSM2820486 c.2199C>T p.R733R Substitution - coding silent 21:44127990-44127990 + SC_9008 COSM5570169 c.1733C>T p.T578M Substitution - Missense 21:44122273-44122273 + TCGA-D1-A103-01 COSM1031224 c.2572G>A p.D858N Substitution - Missense 21:44128613-44128613 + TCGA-GV-A3QF-01 COSM3799960 c.1806G>A p.A602A Substitution - coding silent 21:44122346-44122346 + CSCC-62-T COSM4505150 c.685C>T p.P229S Substitution - Missense 21:44115769-44115769 + YUNEKI COSM5392999 c.1583_1584GG>AA p.W528* Substitution - Nonsense 21:44121049-44121050 + TCGA-D5-6927-01 COSM1414355 c.826C>T p.R276W Substitution - Missense 21:44115910-44115910 + TCGA-FS-A1Z3-06 COSM3551303 c.733G>A p.E245K Substitution - Missense 21:44115817-44115817 + 1953_T COSM3963998 c.622C>T p.Q208* Substitution - Nonsense 21:44115706-44115706 + 587228 COSM1222790 c.235G>A p.A79T Substitution - Missense 21:44114187-44114187 + PT09_2 COSM5895093 c.1726G>A p.V576M Substitution - Missense 21:44122266-44122266 + ccRCC-24 COSM1663779 c.553G>C p.G185R Substitution - Missense 21:44115346-44115346 + ORL-48 COSM4596455 c.2003A>G p.N668S Substitution - Missense 21:44126048-44126048 + TCGA-EB-A431-01 COSM3551302 c.612C>T p.Y204Y Substitution - coding silent 21:44115696-44115696 + SNU-175 COSM2820425 c.38C>T p.T13M Substitution - Missense 21:44109003-44109003 + TCGA-BS-A0TD-01 COSM1031215 c.774_775insGGAAA p.A261fs*14 Insertion - Frameshift 21:44115858-44115859 + GC8_T COSM149241 c.848A>G p.N283S Substitution - Missense 21:44117831-44117831 + OSCC-GB_00700111 COSM4890752 c.455G>T p.W152L Substitution - Missense 21:44114753-44114753 + SJHGG032_D COSM3551305 c.859G>A p.D287N Substitution - Missense 21:44117842-44117842 + T3155 COSM2820428 c.97G>A p.V33M Substitution - Missense 21:44109062-44109062 + TCGA-BH-A1FN-01 COSM1483982 c.1660G>C p.D554H Substitution - Missense 21:44122200-44122200 + Pat_05_B COSM5858727 c.2630C>T p.S877F Substitution - Missense 21:44130641-44130641 + SNU-175 COSM2820468 c.1737C>T p.G579G Substitution - coding silent 21:44122277-44122277 + I2L-P27-Tumor-Biopsy COSM2820454 c.1278C>T p.T426T Substitution - coding silent 21:44120437-44120437 + TCGA-EK-A2PG-01 COSM4819700 c.2292C>G p.L764L Substitution - coding silent 21:44128083-44128083 + TCGA-ER-A193-06 COSM3551307 c.1302C>T p.S434S Substitution - coding silent 21:44120461-44120461 + 0084_CRUK_PC_0084_T1_DNA COSM4420840 c.2593T>G p.W865G Substitution - Missense 21:44130604-44130604 + TCGA-EI-6514-01 COSM2820430 c.147G>A p.T49T Substitution - coding silent 21:44113768-44113768 + TCGA-D9-A1JW-06 COSM3551304 c.779A>G p.K260R Substitution - Missense 21:44115863-44115863 + TCGA-AZ-4315-01 COSM1414356 c.1200G>A p.W400* Substitution - Nonsense 21:44120359-44120359 + 2492721 COSM4480856 c.2460C>T p.L820L Substitution - coding silent 21:44128347-44128347 + CRC-06T COSM2820463 c.1576C>T p.R526C Substitution - Missense 21:44121042-44121042 + TCGA-66-2789-01 COSM725902 c.2417T>C p.L806S Substitution - Missense 21:44128304-44128304 + TCGA-G9-6351-01 COSM3673199 c.202C>A p.R68S Substitution - Missense 21:44113823-44113823 + TCGA-AP-A051-01 COSM1031220 c.2129T>A p.F710Y Substitution - Missense 21:44126954-44126954 + CRC-19T COSM5481638 c.2285C>T p.A762V Substitution - Missense 21:44128076-44128076 + AOCS-086-3-2 COSM4137270 c.132C>T p.N44N Substitution - coding silent 21:44113753-44113753 + T3262 COSM4719528 c.1394C>T p.A465V Substitution - Missense 21:44120687-44120687 + HT115 COSM2820476 c.1929C>T p.F643F Substitution - coding silent 21:44124691-44124691 + D9 COSM1263589 c.2065G>A p.V689I Substitution - Missense 21:44126110-44126110 + TCGA-AX-A05Y-01 COSM1031214 c.540C>T p.I180I Substitution - coding silent 21:44115333-44115333 + SC_9008 COSM5568218 c.1146G>A p.S382S Substitution - coding silent 21:44119481-44119481 + H226 COSM1196740 c.2188C>G p.L730V Substitution - Missense 21:44127979-44127979 + sysucc-1317T COSM5074854 c.1616C>T p.T539M Substitution - Missense 21:44121082-44121082 + TCGA-18-3417-01 COSM725904 c.563A>T p.K188M Substitution - Missense 21:44115356-44115356 + HCC25 COSM1616120 c.642G>A p.M214I Substitution - Missense 21:44115726-44115726 + PT44 COSM5927085 c.620G>A p.S207N Substitution - Missense 21:44115704-44115704 + TCGA-BR-8680-01 COSM4101902 c.1273G>A p.A425T Substitution - Missense 21:44120432-44120432 + TCGA-HU-A4GX-01 COSM1031217 c.1309G>A p.G437R Substitution - Missense 21:44120468-44120468 + TCGA-AA-A00R-01 COSM298980 c.2033A>G p.Q678R Substitution - Missense 21:44126078-44126078 + TCGA-D3-A2J7-06 COSM3551309 c.2556C>T p.I852I Substitution - coding silent 21:44128597-44128597 + TCGA-D1-A167-01 COSM1031223 c.2571C>T p.D857D Substitution - coding silent 21:44128612-44128612 + TCGA-D9-A1JW-06 COSM1724244 c.776G>A p.G259E Substitution - Missense 21:44115860-44115860 + LIM1899 COSM1263589 c.2065G>A p.V689I Substitution - Missense 21:44126110-44126110 + TCGA-BS-A0UV-01 COSM1031225 c.2579C>T p.S860L Substitution - Missense 21:44128620-44128620 + ESCC_BICR_041T COSM5441328 c.1298C>T p.S433L Substitution - Missense 21:44120457-44120457 + T3090 COSM4719529 c.1403C>T p.A468V Substitution - Missense 21:44120696-44120696 + 2497767 COSM5750142 c.788C>A p.P263Q Substitution - Missense 21:44115872-44115872 + Au3 COSM5602167 c.304G>A p.V102M Substitution - Missense 21:44114256-44114256 + Pat_01_B COSM5858723 c.727_729delGAG p.E247delE Deletion - In frame 21:44115811-44115813 + H838 COSM1193265 c.788C>T p.P263L Substitution - Missense 21:44115872-44115872 + S02351 COSM5695141 c.1279G>T p.G427C Substitution - Missense 21:44120438-44120438 + TCGA-D1-A17U-01 COSM1031218 c.1476G>A p.R492R Substitution - coding silent 21:44120769-44120769 + LIM2551 COSM1031222 c.2342C>T p.A781V Substitution - Missense 21:44128133-44128133 + Pa01C COSM84749 c.1543G>A p.V515I Substitution - Missense 21:44121009-44121009 + T368 COSM4719526 c.689C>T p.A230V Substitution - Missense 21:44115773-44115773 + CSCC-62-T COSM2820429 c.113C>T p.T38I Substitution - Missense 21:44109078-44109078 + TCGA-A5-A0GA-01 COSM1031221 c.2264G>A p.R755H Substitution - Missense 21:44128055-44128055 + TCGA-A2-A0EX-01 COSM444562 c.23C>T p.S8L Substitution - Missense 21:44108988-44108988 + TCGA-33-6737-01 COSM725903 c.2209G>A p.D737N Substitution - Missense 21:44128000-44128000 + CAKI-1 COSM1684641 c.1791delT p.T598fs*43 Deletion - Frameshift 21:44122331-44122331 + TCGA-FR-A3YO-06 COSM3551308 c.1631C>T p.S544F Substitution - Missense 21:44121097-44121097 + TCGA-HU-A4GT-01 COSM4101904 c.1337G>T p.R446M Substitution - Missense 21:44120496-44120496 + I2L-P7-Tumor-Organoid COSM5366338 c.880G>A p.A294T Substitution - Missense 21:44117863-44117863 + U2940 COSM5621648 c.257G>A p.C86Y Substitution - Missense 21:44114209-44114209 + LIM2405 COSM4642503 c.2292C>T p.L764L Substitution - coding silent 21:44128083-44128083 + Esp66 COSM1742632 c.901C>T p.H301Y Substitution - Missense 21:44117884-44117884 + PD5935a COSM5771987 c.1509C>A p.P503P Substitution - coding silent 21:44120975-44120975 + CSCC-31-T COSM2820490 c.2284G>A p.A762T Substitution - Missense 21:44128075-44128075 + TCGA-DK-A3WW-01 COSM1031224 c.2572G>A p.D858N Substitution - Missense 21:44128613-44128613 + B13 COSM254908 c.226+1G>A p.? Unknown 21:44113848-44113848 + SM-4AX86 COSM1263589 c.2065G>A p.V689I Substitution - Missense 21:44126110-44126110 + B13 COSM254908 c.226+1G>A p.? Unknown 21:44113848-44113848 + TCGA-CU-A3KJ-01 COSM1307864 c.2713C>G p.L905V Substitution - Missense 21:44130724-44130724 + S02285 COSM4101906 c.2089C>T p.R697W Substitution - Missense 21:44126914-44126914 + Pat_05_A COSM5858727 c.2630C>T p.S877F Substitution - Missense 21:44130641-44130641 + T3 COSM5618358 c.73G>A p.D25N Substitution - Missense 21:44109038-44109038 + CHLA-258 COSM4582112 c.2232C>T p.S744S Substitution - coding silent 21:44128023-44128023 + TCGA-EE-A2MF-06 COSM4893110 c.2427C>T p.S809S Substitution - coding silent 21:44128314-44128314 + TCGA-29-1766-01 COSM1327379 c.2372C>T p.T791I Substitution - Missense 21:44128259-44128259 + T3090 COSM4719525 c.309_311delCTT p.F104delF Deletion - In frame 21:44114261-44114263 + CSCC-31-T COSM4492470 c.398C>T p.A133V Substitution - Missense 21:44114696-44114696 + TCGA-D9-A6EC-06 COSM4405055 c.151C>T p.P51S Substitution - Missense 21:44113772-44113772 + TCGA-BH-A0DK-01 COSM444563 c.1354A>T p.T452S Substitution - Missense 21:44120647-44120647 + SNU-175 COSM2820466 c.1655G>A p.R552H Substitution - Missense 21:44122195-44122195 + HCC25T COSM1616120 c.642G>A p.M214I Substitution - Missense 21:44115726-44115726 + TCGA-BF-A1Q0-01 COSM3551306 c.986C>T p.S329L Substitution - Missense 21:44118768-44118768 + T3021 COSM4719532 c.1722C>T p.N574N Substitution - coding silent 21:44122262-44122262 + CCK81 COSM2820487 c.2200G>A p.V734M Substitution - Missense 21:44127991-44127991 + CAL27 COSM4593590 c.1178A>G p.D393G Substitution - Missense 21:44119513-44119513 + 587376 COSM1222792 c.941T>G p.L314R Substitution - Missense 21:44117924-44117924 + PCSI_0090_Pa_P COSM4101901 c.726A>G p.E242E Substitution - coding silent 21:44115810-44115810 + TCGA-BR-8081-01 COSM4101906 c.2089C>T p.R697W Substitution - Missense 21:44126914-44126914 + HCC100 COSM1616121 c.2087C>A p.S696Y Substitution - Missense 21:44126912-44126912 + HCC100T COSM1616121 c.2087C>A p.S696Y Substitution - Missense 21:44126912-44126912 + sysucc-1370T COSM5471304 c.2140+1G>A p.? Unknown 21:44126966-44126966 + TCGA-04-1648-01 COSM1327380 c.2286C>T p.A762A Substitution - coding silent 21:44128077-44128077 + TCGA-AY-4071-01 COSM287680 c.1612G>A p.E538K Substitution - Missense 21:44121078-44121078 + Pat_24_A COSM5858724 c.1792_1793delAC p.T598fs*38 Deletion - Frameshift 21:44122332-44122333 + S02360 COSM5140032 c.368A>G p.H123R Substitution - Missense 21:44114666-44114666 + 4_RESISTANT COSM1724244 c.776G>A p.G259E Substitution - Missense 21:44115860-44115860 + BD236T COSM5519774 c.1279G>A p.G427S Substitution - Missense 21:44120438-44120438 + 1N63-VS-1T63 COSM4977990 c.95C>T p.P32L Substitution - Missense 21:44109060-44109060 + PCSI_0295_Pa_P_526 COSM4808725 c.2585+5G>A p.? Unknown 21:44128631-44128631 + PT45 COSM5927908 c.538A>G p.I180V Substitution - Missense 21:44115331-44115331 + TCGA-HU-A4GQ-01 COSM4101907 c.2143C>T p.R715C Substitution - Missense 21:44127934-44127934 + 1N30-VS-1T30 COSM4974108 c.614C>T p.S205L Substitution - Missense 21:44115698-44115698 + TCGA-AP-A059-01 COSM1031222 c.2342C>T p.A781V Substitution - Missense 21:44128133-44128133 + PR-3034 COSM246905 c.2253C>T p.R751R Substitution - coding silent 21:44128044-44128044 + TCGA-AA-A02H-01 COSM287496 c.1654C>T p.R552C Substitution - Missense 21:44122194-44122194 + YUKAT COSM5393000 c.1783G>A p.D595N Substitution - Missense 21:44122323-44122323 + T3535 COSM4719531 c.1676C>T p.A559V Substitution - Missense 21:44122216-44122216 + ESCC-209T COSM3939514 c.1707C>T p.F569F Substitution - coding silent 21:44122247-44122247 + ESO-027 COSM1263589 c.2065G>A p.V689I Substitution - Missense 21:44126110-44126110 + ESO-0292 COSM1241638 c.2635C>T p.Q879* Substitution - Nonsense 21:44130646-44130646 + BD124T COSM5494166 c.2252G>A p.R751H Substitution - Missense 21:44128043-44128043 + 2492722 COSM4480856 c.2460C>T p.L820L Substitution - coding silent 21:44128347-44128347 + TCGA-P4-A5E7-01 COSM3991963 c.305T>C p.V102A Substitution - Missense 21:44114257-44114257 + TCGA-D9-A6EC-06 COSM4406385 c.383A>C p.K128T Substitution - Missense 21:44114681-44114681 + C467 COSM4442131 c.403G>A p.V135I Substitution - Missense 21:44114701-44114701 + SNU-C2B COSM2820488 c.2237delC p.R749fs*58 Deletion - Frameshift 21:44128028-44128028 + CSCC-42-T COSM4532034 c.1849G>A p.G617S Substitution - Missense 21:44124611-44124611 + Pat_50_A COSM5858723 c.727_729delGAG p.E247delE Deletion - In frame 21:44115811-44115813 + B13-Tumor COSM254908 c.226+1G>A p.? Unknown 21:44113848-44113848 + TCGA-EA-A3HT-01 COSM4843440 c.1153G>A p.G385R Substitution - Missense 21:44119488-44119488 +

Mutation - CGAP UNIGENE CYTOBAND OMIM SNP Hs.449024;Hs.449026;Hs.449037;Hs.449053;Hs.449064;Hs.449076 21q22.3 601475 2444321|CGAP|BC013309|C/T|non-coding||3065|Validated; 2444321|CGAP|BC014988|C/T|non-coding||3065|Validated

Mutation - IntOGen Mutated from(ref) Mutated to(alt) Consequence Type AA Mutation CDS Mutation Chr Pos Cancer A G Missense p.K260R c.779A>G 21 45535744 CM A G Missense p.Q678R c.2033A>G 21 45545959 COREAD A G Synonymous p.E242E c.726A>G 21 45535691 STAD A T Missense p.K188M c.563A>T 21 45535237 LUSC A T Missense p.T452S c.1354A>T 21 45540528 BRCA C A Synonymous p.I338I c.1014C>A 21 45538677 THCA C G Missense p.L905V c.2713C>G 21 45550606 BLCA C T IntronicSNV . c.327-17C>T 21 45534489 CM C T Missense p.R552C c.1654C>T 21 45542075 COREAD C T Missense p.S329L c.986C>T 21 45538649 CM C T Missense p.S8L c.23C>T 21 45528869 BRCA C T Synonymous p.F759F c.2277C>T 21 45547949 CM C T Synonymous p.G251G c.753C>T 21 45535718 BRCA C T Synonymous p.L708L c.2124C>T 21 45546830 CM C T Synonymous p.S434S c.1302C>T 21 45540342 CM C T Synonymous p.S809S c.2427C>T 21 45548195 CM G A Missense p.D287N c.859G>A 21 45537723 CM G A Missense p.D737N c.2209G>A 21 45547881 LUSC G A Missense p.E245K c.733G>A 21 45535698 CM G A Missense p.E538K c.1612G>A 21 45540959 COREAD G A Missense p.G259E c.776G>A 21 45535741 CM G A Missense p.M663I c.1989G>A 21 45545915 BRCA G A Missense p.V439M c.1315G>A 21 45540355 LGG G A Missense p.V745I c.2233G>A 21 45547905 NB G A SpliceDonorSNV . c.606+1G>A 21 45535281 HNSC G C Missense p.D554H c.1660G>C 21 45542081 BRCA G - Frameshift p.G405Afs*14 c.1214delG 21 45540253 THCA - GGAAA Frameshift p.A261Efs*14 c.776_777insGAAAG 21 45535740 UCEC T A Missense p.V576E c.1727T>A 21 45542148 THCA T C Missense p.L493P c.1478T>C 21 45540652 LUAD T C Missense p.L658S c.1973T>C 21 45545899 GBM T C Missense p.L806S c.2417T>C 21 45548185 LUSC