Mutation - TCGA Type Chromosome Start Position End Position Strand Variant Classification Variant Type Reference Allele Tumor_seq Allele 1 Tumor_seq Allele 2 Tumor Sample Barcode Matched Norm Sample Barcode Genome Change cDNA Change Codon Change Protein Change BLCA 1 26609046 26609046 + Missense_Mutation SNP G G A TCGA-MV-A51V-01A-11D-A26M-08 TCGA-MV-A51V-10A-01D-A26K-08 g.chr1:26609046G>A c.1307C>T c.(1306-1308)tCt>tTt p.S436F BLCA 1 26609156 26609156 + Silent SNP G G A TCGA-FD-A62O-01A-11D-A30E-08 TCGA-FD-A62O-10A-01D-A30H-08 g.chr1:26609156G>A c.1276C>T c.(1276-1278)Ctg>Ttg p.L426L BLCA 1 26610895 26610895 + Nonsense_Mutation SNP G G A TCGA-DK-A3IL-01A-11D-A20D-08 TCGA-DK-A3IL-10A-01D-A20D-08 g.chr1:26610895G>A c.931C>T c.(931-933)Cag>Tag p.Q311* BLCA 1 26612463 26612463 + Missense_Mutation SNP C C T TCGA-ZF-A9RC-01A-11D-A38G-08 TCGA-ZF-A9RC-10A-01D-A38J-08 g.chr1:26612463C>T c.625G>A c.(625-627)Gag>Aag p.E209K BRCA 1 26608867 26608867 + Missense_Mutation SNP C C A TCGA-E2-A109-01A-11D-A10M-09 TCGA-E2-A109-10A-01D-A10M-09 g.chr1:26608867C>A c.1486G>T c.(1486-1488)Ggt>Tgt p.G496C BRCA 1 26608885 26608885 + Missense_Mutation SNP C C T TCGA-AR-A24M-01A-11D-A167-09 TCGA-AR-A24M-10A-01D-A167-09 g.chr1:26608885C>T c.1468G>A c.(1468-1470)Ggt>Agt p.G490S BRCA 1 26608890 26608891 + Frame_Shift_Del DEL CC CC - TCGA-C8-A138-01A-11D-A10Y-09 TCGA-C8-A138-10A-01D-A110-09 g.chr1:26608890_26608891delCC c.1462_1463delGG c.(1462-1464)ggtfs p.G488fs BRCA 1 26608890 26608891 + Frame_Shift_Del DEL CC CC - TCGA-D8-A1JI-01A-11D-A13L-09 TCGA-D8-A1JI-10A-01D-A13O-09 g.chr1:26608890_26608891delCC c.1462_1463delGG c.(1462-1464)ggtfs p.G488fs BRCA 1 26608929 26608929 + Missense_Mutation SNP G G A TCGA-E2-A14P-01A-31D-A12B-09 TCGA-E2-A14P-10A-01D-A12B-09 g.chr1:26608929G>A c.1424C>T c.(1423-1425)cCg>cTg p.P475L BRCA 1 26609377 26609377 + Missense_Mutation SNP T T G TCGA-A2-A0T5-01A-21D-A099-09 TCGA-A2-A0T5-10A-01D-A099-09 g.chr1:26609377T>G c.1129A>C c.(1129-1131)Acc>Ccc p.T377P BRCA 1 26612397 26612397 + Missense_Mutation SNP C C T TCGA-AO-A128-01A-11D-A10M-09 TCGA-AO-A128-10A-01D-A10M-09 g.chr1:26612397C>T c.691G>A c.(691-693)Gag>Aag p.E231K BRCA 1 26620739 26620739 + Missense_Mutation SNP A A T TCGA-A2-A4RW-01A-21D-A25Q-09 TCGA-A2-A4RW-10A-01D-A25Q-09 g.chr1:26620739A>T c.516T>A c.(514-516)caT>caA p.H172Q CESC 1 26620814 26620814 + Silent SNP G G A TCGA-EK-A3GJ-01A-21D-A20U-09 TCGA-EK-A3GJ-11A-11D-A20U-09 g.chr1:26620814G>A c.441C>T c.(439-441)ctC>ctT p.L147L COAD 1 26608866 26608867 + Missense_Mutation DNP CC CC GA TCGA-D5-6924-01A-11D-1924-10 TCGA-D5-6924-10A-01D-1924-10 g.chr1:26608866_26608867CC>GA c.1486_1487GG>TC c.(1486-1488)GGt>TCt p.G496S COAD 1 26608896 26608896 + Missense_Mutation SNP C C G TCGA-D5-6924-01A-11D-1924-10 TCGA-D5-6924-10A-01D-1924-10 g.chr1:26608896C>G c.1457G>C c.(1456-1458)tGt>tCt p.C486S COAD 1 26609374 26609374 + Missense_Mutation SNP A A C TCGA-AZ-4315-01A-01D-1408-10 TCGA-AZ-4315-10A-01D-1408-10 g.chr1:26609374A>C c.1132T>G c.(1132-1134)Ttg>Gtg p.L378V COAD 1 26609406 26609406 + Missense_Mutation SNP C C T TCGA-AA-A01R-01A-21W-A096-10 TCGA-AA-A01R-11A-12W-A096-10 g.chr1:26609406C>T c.1100G>A c.(1099-1101)cGg>cAg p.R367Q COAD 1 26612398 26612398 + Silent SNP G G A TCGA-AA-3858-01A-01W-0900-09 TCGA-AA-3858-10A-01W-0900-09 g.chr1:26612398G>A c.690C>T c.(688-690)ctC>ctT p.L230L COADREAD 1 26608866 26608867 + Missense_Mutation DNP CC CC GA TCGA-D5-6924-01A-11D-1924-10 TCGA-D5-6924-10A-01D-1924-10 g.chr1:26608866_26608867CC>GA c.1486_1487GG>TC c.(1486-1488)GGt>TCt p.G496S COADREAD 1 26608896 26608896 + Missense_Mutation SNP C C G TCGA-D5-6924-01A-11D-1924-10 TCGA-D5-6924-10A-01D-1924-10 g.chr1:26608896C>G c.1457G>C c.(1456-1458)tGt>tCt p.C486S COADREAD 1 26609036 26609036 + Missense_Mutation SNP C C A TCGA-AG-A002-01A-01W-A00K-09 TCGA-AG-A002-10A-01W-A00K-09 g.chr1:26609036C>A c.1317G>T c.(1315-1317)gaG>gaT p.E439D COADREAD 1 26609374 26609374 + Missense_Mutation SNP A A C TCGA-AZ-4315-01A-01D-1408-10 TCGA-AZ-4315-10A-01D-1408-10 g.chr1:26609374A>C c.1132T>G c.(1132-1134)Ttg>Gtg p.L378V COADREAD 1 26609406 26609406 + Missense_Mutation SNP C C T TCGA-AA-A01R-01A-21W-A096-10 TCGA-AA-A01R-11A-12W-A096-10 g.chr1:26609406C>T c.1100G>A c.(1099-1101)cGg>cAg p.R367Q COADREAD 1 26612372 26612372 + Missense_Mutation SNP C C T TCGA-AG-A02N-01A-11W-A096-10 TCGA-AG-A02N-11A-11W-A096-10 g.chr1:26612372C>T c.716G>A c.(715-717)cGg>cAg p.R239Q COADREAD 1 26612398 26612398 + Silent SNP G G A TCGA-AA-3858-01A-01W-0900-09 TCGA-AA-3858-10A-01W-0900-09 g.chr1:26612398G>A c.690C>T c.(688-690)ctC>ctT p.L230L DLBC 1 26608849 26608849 + Missense_Mutation SNP T T A TCGA-G8-6906-01A-11D-2210-10 TCGA-G8-6906-14A-01D-2210-10 g.chr1:26608849T>A c.1504A>T c.(1504-1506)Agt>Tgt p.S502C DLBC 1 26608853 26608853 + Silent SNP G G A TCGA-G8-6906-01A-11D-2210-10 TCGA-G8-6906-14A-01D-2210-10 g.chr1:26608853G>A c.1500C>T c.(1498-1500)ggC>ggT p.G500G DLBC 1 26608855 26608855 + Missense_Mutation SNP C C T TCGA-G8-6906-01A-11D-2210-10 TCGA-G8-6906-14A-01D-2210-10 g.chr1:26608855C>T c.1498G>A c.(1498-1500)Ggc>Agc p.G500S DLBC 1 26608867 26608867 + Missense_Mutation SNP C C A TCGA-FF-8043-01A-11D-2210-10 TCGA-FF-8043-10A-01D-2210-10 g.chr1:26608867C>A c.1486G>T c.(1486-1488)Ggt>Tgt p.G496C DLBC 1 26608867 26608867 + Missense_Mutation SNP C C A TCGA-G8-6326-01A-11D-2210-10 TCGA-G8-6326-10A-01D-2210-10 g.chr1:26608867C>A c.1486G>T c.(1486-1488)Ggt>Tgt p.G496C DLBC 1 26620761 26620761 + Missense_Mutation SNP T T C TCGA-G8-6324-01A-11D-2210-10 TCGA-G8-6324-10A-01D-2210-10 g.chr1:26620761T>C c.494A>G c.(493-495)gAg>gGg p.E165G GBMLGG 1 26611954 26611954 + Splice_Site SNP C C T TCGA-DU-6392-01A-11D-1705-08 TCGA-DU-6392-10A-01D-1705-08 g.chr1:26611954C>T c.e11+1 GBMLGG 1 26629321 26629321 + Silent SNP C C T TCGA-TM-A84L-01A-11D-A36O-08 TCGA-TM-A84L-10A-01D-A367-08 g.chr1:26629321C>T c.54G>A c.(52-54)tcG>tcA p.S18S HNSC 1 26609384 26609384 + Silent SNP C C T TCGA-F7-8489-01A-31D-2394-08 TCGA-F7-8489-10A-01D-2394-08 g.chr1:26609384C>T c.1122G>A c.(1120-1122)gaG>gaA p.E374E HNSC 1 26610676 26610676 + Missense_Mutation SNP C C T TCGA-CV-A468-01A-11D-A25Y-08 TCGA-CV-A468-10A-01D-A25Y-08 g.chr1:26610676C>T c.1034G>A c.(1033-1035)gGc>gAc p.G345D HNSC 1 26610677 26610677 + Missense_Mutation SNP C C T TCGA-CV-A468-01A-11D-A25Y-08 TCGA-CV-A468-10A-01D-A25Y-08 g.chr1:26610677C>T c.1033G>A c.(1033-1035)Ggc>Agc p.G345S HNSC 1 26620764 26620764 + Missense_Mutation SNP G G A TCGA-BA-4077-01B-01D-1434-08 TCGA-BA-4077-10A-01D-1434-08 g.chr1:26620764G>A c.491C>T c.(490-492)tCa>tTa p.S164L KICH 1 26608828 26608828 + Missense_Mutation SNP G G A TCGA-KO-8415-01A-11D-2310-10 TCGA-KO-8415-11A-01D-2311-10 g.chr1:26608828G>A c.1525C>T c.(1525-1527)Ccc>Tcc p.P509S KICH 1 26608849 26608849 + Missense_Mutation SNP T T A TCGA-KN-8426-01A-11D-2310-10 TCGA-KN-8426-11A-01D-2311-10 g.chr1:26608849T>A c.1504A>T c.(1504-1506)Agt>Tgt p.S502C KICH 1 26608852 26608852 + Missense_Mutation SNP G G A TCGA-KO-8408-01A-11D-2310-10 TCGA-KO-8408-11A-01D-2311-10 g.chr1:26608852G>A c.1501C>T c.(1501-1503)Ccc>Tcc p.P501S KIPAN 1 26608828 26608828 + Missense_Mutation SNP G G A TCGA-KO-8415-01A-11D-2310-10 TCGA-KO-8415-11A-01D-2311-10 g.chr1:26608828G>A c.1525C>T c.(1525-1527)Ccc>Tcc p.P509S KIPAN 1 26608849 26608849 + Missense_Mutation SNP T T A TCGA-KN-8426-01A-11D-2310-10 TCGA-KN-8426-11A-01D-2311-10 g.chr1:26608849T>A c.1504A>T c.(1504-1506)Agt>Tgt p.S502C KIPAN 1 26608852 26608852 + Missense_Mutation SNP G G A TCGA-KO-8408-01A-11D-2310-10 TCGA-KO-8408-11A-01D-2311-10 g.chr1:26608852G>A c.1501C>T c.(1501-1503)Ccc>Tcc p.P501S KIPAN 1 26608865 26608865 + Silent SNP A A G TCGA-B9-A8YI-01A-21D-A36X-10 TCGA-B9-A8YI-10A-01D-A370-10 g.chr1:26608865A>G c.1488T>C c.(1486-1488)ggT>ggC p.G496G KIPAN 1 26608865 26608865 + Silent SNP A A G TCGA-DW-7963-01B-11D-A28G-10 TCGA-DW-7963-10C-01D-A28G-10 g.chr1:26608865A>G c.1488T>C c.(1486-1488)ggT>ggC p.G496G KIPAN 1 26608890 26608891 + Frame_Shift_Del DEL CC CC - TCGA-CZ-5457-01A-01D-1501-10 TCGA-CZ-5457-11A-01D-1501-10 g.chr1:26608890_26608891delCC c.1462_1463delGG c.(1462-1464)ggtfs p.G488fs KIPAN 1 26608893 26608896 + Frame_Shift_Del DEL GGAC GGAC - TCGA-CZ-5457-01A-01D-1501-10 TCGA-CZ-5457-11A-01D-1501-10 g.chr1:26608893_26608896delGGAC c.1457_1460delGTCC c.(1456-1461)tgtcccfs p.CP486fs KIPAN 1 26609138 26609138 + Splice_Site SNP A A C TCGA-CW-5585-01A-01D-1534-10 TCGA-CW-5585-11A-01D-1535-10 g.chr1:26609138A>C c.e15+1 KIPAN 1 26623424 26623424 + Missense_Mutation SNP C C G TCGA-BP-4963-01A-01D-1462-08 TCGA-BP-4963-11A-01D-1462-08 g.chr1:26623424C>G c.418G>C c.(418-420)Gtc>Ctc p.V140L KIRC 1 26608890 26608891 + Frame_Shift_Del DEL CC CC - TCGA-CZ-5457-01A-01D-1501-10 TCGA-CZ-5457-11A-01D-1501-10 g.chr1:26608890_26608891delCC c.1462_1463delGG c.(1462-1464)ggtfs p.G488fs KIRC 1 26608893 26608896 + Frame_Shift_Del DEL GGAC GGAC - TCGA-CZ-5457-01A-01D-1501-10 TCGA-CZ-5457-11A-01D-1501-10 g.chr1:26608893_26608896delGGAC c.1457_1460delGTCC c.(1456-1461)tgtcccfs p.CP486fs KIRC 1 26609138 26609138 + Splice_Site SNP A A C TCGA-CW-5585-01A-01D-1534-10 TCGA-CW-5585-11A-01D-1535-10 g.chr1:26609138A>C c.e15+1 KIRC 1 26623424 26623424 + Missense_Mutation SNP C C G TCGA-BP-4963-01A-01D-1462-08 TCGA-BP-4963-11A-01D-1462-08 g.chr1:26623424C>G c.418G>C c.(418-420)Gtc>Ctc p.V140L KIRP 1 26608865 26608865 + Silent SNP A A G TCGA-B9-A8YI-01A-21D-A36X-10 TCGA-B9-A8YI-10A-01D-A370-10 g.chr1:26608865A>G c.1488T>C c.(1486-1488)ggT>ggC p.G496G KIRP 1 26608865 26608865 + Silent SNP A A G TCGA-DW-7963-01B-11D-A28G-10 TCGA-DW-7963-10C-01D-A28G-10 g.chr1:26608865A>G c.1488T>C c.(1486-1488)ggT>ggC p.G496G LGG 1 26611954 26611954 + Splice_Site SNP C C T TCGA-DU-6392-01A-11D-1705-08 TCGA-DU-6392-10A-01D-1705-08 g.chr1:26611954C>T c.e11+1 LGG 1 26629321 26629321 + Silent SNP C C T TCGA-TM-A84L-01A-11D-A36O-08 TCGA-TM-A84L-10A-01D-A367-08 g.chr1:26629321C>T c.54G>A c.(52-54)tcG>tcA p.S18S LIHC 1 26608874 26608879 + In_Frame_Del DEL GGGGCC GGGGCC - TCGA-WX-AA44-01A-11D-A38X-10 TCGA-WX-AA44-10A-01D-A38X-10 g.chr1:26608874_26608879delGGGGCC c.1474_1479delGGCCCC c.(1474-1479)ggccccdel p.GP492del LIHC 1 26609381 26609381 + Silent SNP C C T TCGA-4R-AA8I-01A-11D-A382-10 TCGA-4R-AA8I-10B-01D-A385-10 g.chr1:26609381C>T c.1125G>A c.(1123-1125)acG>acA p.T375T LUAD 1 26620716 26620716 + Missense_Mutation SNP G G C TCGA-55-8203-01A-11D-2238-08 TCGA-55-8203-10A-01D-2238-08 g.chr1:26620716G>C c.539C>G c.(538-540)gCc>gGc p.A180G LUAD 1 26624543 26624543 + Silent SNP G G A TCGA-55-8620-01A-11D-2393-08 TCGA-55-8620-10A-01D-2393-08 g.chr1:26624543G>A c.210C>T c.(208-210)tcC>tcT p.S70S LUAD 1 26628188 26628188 + Missense_Mutation SNP C C T TCGA-44-6144-01A-11D-1753-08 TCGA-44-6144-10A-01D-1753-08 g.chr1:26628188C>T c.97G>A c.(97-99)Gat>Aat p.D33N LUSC 1 26608936 26608936 + Nonsense_Mutation SNP G G A TCGA-21-1081-01A-01D-1521-08 TCGA-21-1081-10B-01D-1521-08 g.chr1:26608936G>A c.1417C>T c.(1417-1419)Cga>Tga p.R473* LUSC 1 26611997 26611997 + Silent SNP G G C TCGA-22-5491-01A-01D-1632-08 TCGA-22-5491-11A-01D-1632-08 g.chr1:26611997G>C c.810C>G c.(808-810)ccC>ccG p.P270P LUSC 1 26612496 26612496 + Missense_Mutation SNP C C T TCGA-37-5819-01A-01D-1632-08 TCGA-37-5819-10A-01D-1632-08 g.chr1:26612496C>T c.592G>A c.(592-594)Gac>Aac p.D198N OV 1 26610659 26610659 + Missense_Mutation SNP G G A TCGA-61-1995-01A-01W-0722-08 TCGA-61-1995-11A-01W-0722-08 g.chr1:26610659G>A c.1051C>T c.(1051-1053)Cgg>Tgg p.R351W PAAD 1 26608892 26608892 + Silent SNP G G A TCGA-3A-A9IC-01A-11D-A38G-08 TCGA-3A-A9IC-10A-01D-A38J-08 g.chr1:26608892G>A c.1461C>T c.(1459-1461)ccC>ccT p.P487P PAAD 1 26608892 26608892 + Silent SNP G G A TCGA-HV-A7OL-01A-11D-A33T-08 TCGA-HV-A7OL-10A-01D-A33W-08 g.chr1:26608892G>A c.1461C>T c.(1459-1461)ccC>ccT p.P487P PAAD 1 26608892 26608892 + Silent SNP G G A TCGA-Q3-A5QY-01A-12D-A32N-08 TCGA-Q3-A5QY-10A-01D-A32N-08 g.chr1:26608892G>A c.1461C>T c.(1459-1461)ccC>ccT p.P487P PRAD 1 26608795 26608796 + In_Frame_Ins INS - - GGGGCT TCGA-VP-A87C-01A-11D-A34U-08 TCGA-VP-A87C-10A-01D-A34X-08 g.chr1:26608795_26608796insGGGGCT c.1557_1558insAGCCCC c.(1555-1560)ccccaa>cccAGCCCCcaa p.518_519insPS PRAD 1 26608892 26608892 + Silent SNP G G A TCGA-EJ-A8FS-01A-11D-A34U-08 TCGA-EJ-A8FS-10A-01D-A34X-08 g.chr1:26608892G>A c.1461C>T c.(1459-1461)ccC>ccT p.P487P PRAD 1 26629355 26629355 + Missense_Mutation SNP G G A TCGA-ZG-A9LM-01A-11D-A41K-08 TCGA-ZG-A9LM-10A-01D-A41N-08 g.chr1:26629355G>A c.20C>T c.(19-21)tCc>tTc p.S7F READ 1 26609036 26609036 + Missense_Mutation SNP C C A TCGA-AG-A002-01A-01W-A00K-09 TCGA-AG-A002-10A-01W-A00K-09 g.chr1:26609036C>A c.1317G>T c.(1315-1317)gaG>gaT p.E439D READ 1 26612372 26612372 + Missense_Mutation SNP C C T TCGA-AG-A02N-01A-11W-A096-10 TCGA-AG-A02N-11A-11W-A096-10 g.chr1:26612372C>T c.716G>A c.(715-717)cGg>cAg p.R239Q SKCM 1 26610879 26610879 + Missense_Mutation SNP G G A TCGA-EB-A5SG-06A-11D-A30X-08 TCGA-EB-A5SG-10A-01D-A30X-08 g.chr1:26610879G>A c.947C>T c.(946-948)gCc>gTc p.A316V SKCM 1 26620703 26620703 + Nonsense_Mutation SNP C C T TCGA-EE-A2GR-06A-11D-A197-08 TCGA-EE-A2GR-10A-01D-A199-08 g.chr1:26620703C>T c.552G>A c.(550-552)tgG>tgA p.W184* SKCM 1 26620706 26620706 + Silent SNP G G A TCGA-EE-A3JD-06A-11D-A20D-08 TCGA-EE-A3JD-10A-01D-A20D-08 g.chr1:26620706G>A c.549C>T c.(547-549)ttC>ttT p.F183F SKCM 1 26620710 26620710 + Missense_Mutation SNP T T C TCGA-D9-A6EC-06A-11D-A30X-08 TCGA-D9-A6EC-10A-01D-A30X-08 g.chr1:26620710T>C c.545A>G c.(544-546)aAg>aGg p.K182R SKCM 1 26620781 26620781 + Silent SNP G G T TCGA-EE-A3JI-06A-11D-A21A-08 TCGA-EE-A3JI-10A-01D-A21A-08 g.chr1:26620781G>T c.474C>A c.(472-474)ccC>ccA p.P158P SKCM 1 26620782 26620782 + Missense_Mutation SNP G G A TCGA-EE-A3JI-06A-11D-A21A-08 TCGA-EE-A3JI-10A-01D-A21A-08 g.chr1:26620782G>A c.473C>T c.(472-474)cCc>cTc p.P158L SKCM 1 26627455 26627455 + Missense_Mutation SNP G G A TCGA-FW-A3R5-06A-11D-A23B-08 TCGA-FW-A3R5-10A-01D-A23B-08 g.chr1:26627455G>A c.161C>T c.(160-162)tCc>tTc p.S54F

Mutation - ICGC Project Code Chromosome Chromosome Start Chromosome End Mutation Type Mutated from Allele Mutated to Allele Consequence Type AA Mutation CDS Mutation BLCA-US 1 26610895 26610895 single base substitution G A downstream_gene_variant BLCA-US 1 26610895 26610895 single base substitution G A exon_variant BLCA-US 1 26610895 26610895 single base substitution G A stop_gained Q191* 571C>T BLCA-US 1 26610895 26610895 single base substitution G A stop_gained Q278* 832C>T BLCA-US 1 26610895 26610895 single base substitution G A stop_gained Q311* 931C>T BLCA-US 1 26610895 26610895 single base substitution G A stop_gained Q68* 202C>T BOCA-FR 1 26643934 26643934 single base substitution A G intron_variant BRCA-EU 1 26603367 26603367 single base substitution C G downstream_gene_variant BRCA-EU 1 26607430 26607430 single base substitution G C downstream_gene_variant BRCA-EU 1 26607553 26607553 single base substitution A T downstream_gene_variant BRCA-EU 1 26608266 26608266 single base substitution C A 3_prime_UTR_variant BRCA-EU 1 26608266 26608266 single base substitution C A downstream_gene_variant BRCA-EU 1 26610954 26610954 single base substitution T G downstream_gene_variant BRCA-EU 1 26610954 26610954 single base substitution T G exon_variant BRCA-EU 1 26610954 26610954 single base substitution T G missense_variant Q171P 512A>C BRCA-EU 1 26610954 26610954 single base substitution T G missense_variant Q258P 773A>C BRCA-EU 1 26610954 26610954 single base substitution T G missense_variant Q291P 872A>C BRCA-EU 1 26610954 26610954 single base substitution T G missense_variant Q48P 143A>C BRCA-EU 1 26611453 26611453 single base substitution C T downstream_gene_variant BRCA-EU 1 26611453 26611453 single base substitution C T exon_variant BRCA-EU 1 26611453 26611453 single base substitution C T intron_variant BRCA-EU 1 26611536 26611536 single base substitution G C 3_prime_UTR_variant BRCA-EU 1 26611536 26611536 single base substitution G C downstream_gene_variant BRCA-EU 1 26611536 26611536 single base substitution G C exon_variant BRCA-EU 1 26611536 26611536 single base substitution G C intron_variant BRCA-EU 1 26613772 26613772 single base substitution C A intron_variant BRCA-EU 1 26614298 26614298 single base substitution T C intron_variant BRCA-EU 1 26615214 26615214 single base substitution G C intron_variant BRCA-EU 1 26615558 26615558 single base substitution C G intron_variant BRCA-EU 1 26616221 26616221 single base substitution G A downstream_gene_variant BRCA-EU 1 26616221 26616221 single base substitution G A intron_variant BRCA-EU 1 26616800 26616800 single base substitution G C downstream_gene_variant BRCA-EU 1 26616800 26616800 single base substitution G C intron_variant BRCA-EU 1 26617785 26617785 single base substitution G C downstream_gene_variant BRCA-EU 1 26617785 26617785 single base substitution G C intron_variant BRCA-EU 1 26619326 26619326 single base substitution C G downstream_gene_variant BRCA-EU 1 26619326 26619326 single base substitution C G intron_variant BRCA-EU 1 26619513 26619513 single base substitution C T downstream_gene_variant BRCA-EU 1 26619513 26619513 single base substitution C T intron_variant BRCA-EU 1 26620978 26620978 single base substitution G T downstream_gene_variant BRCA-EU 1 26620978 26620978 single base substitution G T intron_variant BRCA-EU 1 26622915 26622915 single base substitution C T downstream_gene_variant BRCA-EU 1 26622915 26622915 single base substitution C T intron_variant BRCA-EU 1 26623886 26623886 single base substitution G T intron_variant BRCA-EU 1 26624169 26624169 single base substitution G A intron_variant BRCA-EU 1 26625892 26625892 single base substitution A G intron_variant BRCA-EU 1 26625892 26625892 single base substitution A G upstream_gene_variant BRCA-EU 1 26627654 26627654 single base substitution A T intron_variant BRCA-EU 1 26627654 26627654 single base substitution A T upstream_gene_variant BRCA-EU 1 26628419 26628419 single base substitution G A intron_variant BRCA-EU 1 26628419 26628419 single base substitution G A upstream_gene_variant BRCA-EU 1 26629400 26629400 single base substitution C G 5_prime_UTR_variant BRCA-EU 1 26629400 26629400 single base substitution C G exon_variant BRCA-EU 1 26629400 26629400 single base substitution C G intron_variant BRCA-EU 1 26629400 26629400 single base substitution C G upstream_gene_variant BRCA-EU 1 26631410 26631410 single base substitution G C intron_variant BRCA-EU 1 26631410 26631410 single base substitution G C upstream_gene_variant BRCA-EU 1 26632082 26632082 single base substitution T C intron_variant BRCA-EU 1 26632082 26632082 single base substitution T C upstream_gene_variant BRCA-EU 1 26633033 26633033 single base substitution C A 5_prime_UTR_variant BRCA-EU 1 26633033 26633033 single base substitution C A intron_variant BRCA-EU 1 26633033 26633033 single base substitution C A upstream_gene_variant BRCA-EU 1 26633034 26633034 single base substitution C G 5_prime_UTR_variant BRCA-EU 1 26633034 26633034 single base substitution C G intron_variant BRCA-EU 1 26633034 26633034 single base substitution C G upstream_gene_variant BRCA-EU 1 26633412 26633412 single base substitution G A 5_prime_UTR_variant BRCA-EU 1 26633412 26633412 single base substitution G A intron_variant BRCA-EU 1 26633412 26633412 single base substitution G A upstream_gene_variant BRCA-EU 1 26634239 26634239 single base substitution C T intron_variant BRCA-EU 1 26634239 26634239 single base substitution C T upstream_gene_variant BRCA-EU 1 26637653 26637653 single base substitution C G intron_variant BRCA-EU 1 26637653 26637653 single base substitution C G upstream_gene_variant BRCA-EU 1 26638304 26638304 single base substitution T G intron_variant BRCA-EU 1 26638304 26638304 single base substitution T G upstream_gene_variant BRCA-EU 1 26638544 26638544 single base substitution C G intron_variant BRCA-EU 1 26638683 26638683 single base substitution A G intron_variant BRCA-EU 1 26638752 26638752 deletion of <=200bp T - intron_variant BRCA-EU 1 26639849 26639849 single base substitution C T intron_variant BRCA-EU 1 26641580 26641580 deletion of <=200bp A - intron_variant BRCA-EU 1 26642121 26642121 single base substitution C T intron_variant BRCA-EU 1 26647300 26647300 single base substitution C A upstream_gene_variant BRCA-EU 1 26649697 26649697 single base substitution G C upstream_gene_variant BRCA-FR 1 26615214 26615214 single base substitution G C intron_variant BRCA-FR 1 26616221 26616221 single base substitution G A downstream_gene_variant BRCA-FR 1 26616221 26616221 single base substitution G A intron_variant BRCA-FR 1 26616800 26616800 single base substitution G C downstream_gene_variant BRCA-FR 1 26616800 26616800 single base substitution G C intron_variant BRCA-FR 1 26617785 26617785 single base substitution G C downstream_gene_variant BRCA-FR 1 26617785 26617785 single base substitution G C intron_variant BRCA-FR 1 26639731 26639731 single base substitution C T intron_variant BRCA-FR 1 26649697 26649697 single base substitution G C upstream_gene_variant BRCA-UK 1 26615558 26615558 single base substitution C G intron_variant BRCA-US 1 26603638 26603638 single base substitution G C downstream_gene_variant BRCA-US 1 26604889 26604889 single base substitution C G downstream_gene_variant BRCA-US 1 26608867 26608867 single base substitution C A downstream_gene_variant BRCA-US 1 26608867 26608867 single base substitution C A exon_variant BRCA-US 1 26608867 26608867 single base substitution C A missense_variant G253C 757G>T BRCA-US 1 26608867 26608867 single base substitution C A missense_variant G376C 1126G>T BRCA-US 1 26608867 26608867 single base substitution C A missense_variant G463C 1387G>T BRCA-US 1 26608867 26608867 single base substitution C A missense_variant G496C 1486G>T BRCA-US 1 26608885 26608885 single base substitution C T downstream_gene_variant BRCA-US 1 26608885 26608885 single base substitution C T exon_variant BRCA-US 1 26608885 26608885 single base substitution C T missense_variant G247S 739G>A BRCA-US 1 26608885 26608885 single base substitution C T missense_variant G370S 1108G>A BRCA-US 1 26608885 26608885 single base substitution C T missense_variant G457S 1369G>A BRCA-US 1 26608885 26608885 single base substitution C T missense_variant G490S 1468G>A BRCA-US 1 26608889 26608889 single base substitution A T downstream_gene_variant BRCA-US 1 26608889 26608889 single base substitution A T exon_variant BRCA-US 1 26608889 26608889 single base substitution A T synonymous_variant G245G 735T>A BRCA-US 1 26608889 26608889 single base substitution A T synonymous_variant G368G 1104T>A BRCA-US 1 26608889 26608889 single base substitution A T synonymous_variant G455G 1365T>A BRCA-US 1 26608889 26608889 single base substitution A T synonymous_variant G488G 1464T>A BRCA-US 1 26608890 26608891 deletion of <=200bp CC - downstream_gene_variant BRCA-US 1 26608890 26608891 deletion of <=200bp CC - exon_variant BRCA-US 1 26608890 26608891 deletion of <=200bp CC - frameshift_variant G245 BRCA-US 1 26608890 26608891 deletion of <=200bp CC - frameshift_variant G368 BRCA-US 1 26608890 26608891 deletion of <=200bp CC - frameshift_variant G455 BRCA-US 1 26608890 26608891 deletion of <=200bp CC - frameshift_variant G488 BRCA-US 1 26608929 26608929 single base substitution G A downstream_gene_variant BRCA-US 1 26608929 26608929 single base substitution G A exon_variant BRCA-US 1 26608929 26608929 single base substitution G A missense_variant P232L 695C>T BRCA-US 1 26608929 26608929 single base substitution G A missense_variant P355L 1064C>T BRCA-US 1 26608929 26608929 single base substitution G A missense_variant P442L 1325C>T BRCA-US 1 26608929 26608929 single base substitution G A missense_variant P475L 1424C>T BRCA-US 1 26609377 26609377 single base substitution T G downstream_gene_variant BRCA-US 1 26609377 26609377 single base substitution T G exon_variant BRCA-US 1 26609377 26609377 single base substitution T G missense_variant T134P 400A>C BRCA-US 1 26609377 26609377 single base substitution T G missense_variant T257P 769A>C BRCA-US 1 26609377 26609377 single base substitution T G missense_variant T344P 1030A>C BRCA-US 1 26609377 26609377 single base substitution T G missense_variant T377P 1129A>C BRCA-US 1 26612397 26612397 single base substitution C T 5_prime_UTR_variant BRCA-US 1 26612397 26612397 single base substitution C T downstream_gene_variant BRCA-US 1 26612397 26612397 single base substitution C T exon_variant BRCA-US 1 26612397 26612397 single base substitution C T missense_variant E111K 331G>A BRCA-US 1 26612397 26612397 single base substitution C T missense_variant E156K 466G>A BRCA-US 1 26612397 26612397 single base substitution C T missense_variant E193K 577G>A BRCA-US 1 26612397 26612397 single base substitution C T missense_variant E198K 592G>A BRCA-US 1 26612397 26612397 single base substitution C T missense_variant E231K 691G>A BRCA-US 1 26612397 26612397 single base substitution C T missense_variant E73K 217G>A BRCA-US 1 26620739 26620739 single base substitution A T downstream_gene_variant BRCA-US 1 26620739 26620739 single base substitution A T exon_variant BRCA-US 1 26620739 26620739 single base substitution A T intron_variant BRCA-US 1 26620739 26620739 single base substitution A T missense_variant H134Q 402T>A BRCA-US 1 26620739 26620739 single base substitution A T missense_variant H139Q 417T>A BRCA-US 1 26620739 26620739 single base substitution A T missense_variant H14Q 42T>A BRCA-US 1 26620739 26620739 single base substitution A T missense_variant H172Q 516T>A BRCA-US 1 26620739 26620739 single base substitution A T missense_variant H97Q 291T>A BTCA-JP 1 26603738 26603741 deletion of <=200bp CAGA - downstream_gene_variant BTCA-JP 1 26607426 26607426 single base substitution A G downstream_gene_variant BTCA-JP 1 26607705 26607706 deletion of <=200bp CT - downstream_gene_variant BTCA-JP 1 26608835 26608835 single base substitution A T downstream_gene_variant BTCA-JP 1 26608835 26608835 single base substitution A T exon_variant BTCA-JP 1 26608835 26608835 single base substitution A T synonymous_variant G263G 789T>A BTCA-JP 1 26608835 26608835 single base substitution A T synonymous_variant G386G 1158T>A BTCA-JP 1 26608835 26608835 single base substitution A T synonymous_variant G473G 1419T>A BTCA-JP 1 26608835 26608835 single base substitution A T synonymous_variant G506G 1518T>A BTCA-JP 1 26608843 26608843 single base substitution C A downstream_gene_variant BTCA-JP 1 26608843 26608843 single base substitution C A exon_variant BTCA-JP 1 26608843 26608843 single base substitution C A missense_variant G261C 781G>T BTCA-JP 1 26608843 26608843 single base substitution C A missense_variant G384C 1150G>T BTCA-JP 1 26608843 26608843 single base substitution C A missense_variant G471C 1411G>T BTCA-JP 1 26608843 26608843 single base substitution C A missense_variant G504C 1510G>T BTCA-JP 1 26608885 26608885 single base substitution C T downstream_gene_variant BTCA-JP 1 26608885 26608885 single base substitution C T exon_variant BTCA-JP 1 26608885 26608885 single base substitution C T missense_variant G247S 739G>A BTCA-JP 1 26608885 26608885 single base substitution C T missense_variant G370S 1108G>A BTCA-JP 1 26608885 26608885 single base substitution C T missense_variant G457S 1369G>A BTCA-JP 1 26608885 26608885 single base substitution C T missense_variant G490S 1468G>A BTCA-JP 1 26608889 26608889 single base substitution A T downstream_gene_variant BTCA-JP 1 26608889 26608889 single base substitution A T exon_variant BTCA-JP 1 26608889 26608889 single base substitution A T synonymous_variant G245G 735T>A BTCA-JP 1 26608889 26608889 single base substitution A T synonymous_variant G368G 1104T>A BTCA-JP 1 26608889 26608889 single base substitution A T synonymous_variant G455G 1365T>A BTCA-JP 1 26608889 26608889 single base substitution A T synonymous_variant G488G 1464T>A BTCA-JP 1 26610843 26610843 single base substitution C T downstream_gene_variant BTCA-JP 1 26610843 26610843 single base substitution C T intron_variant CESC-US 1 26603650 26603650 single base substitution G C downstream_gene_variant CESC-US 1 26603883 26603883 insertion of <=200bp - AA downstream_gene_variant CESC-US 1 26603964 26603964 single base substitution G T downstream_gene_variant CESC-US 1 26620814 26620814 single base substitution G A 5_prime_UTR_variant CESC-US 1 26620814 26620814 single base substitution G A downstream_gene_variant CESC-US 1 26620814 26620814 single base substitution G A exon_variant CESC-US 1 26620814 26620814 single base substitution G A intron_variant CESC-US 1 26620814 26620814 single base substitution G A synonymous_variant L109L 327C>T CESC-US 1 26620814 26620814 single base substitution G A synonymous_variant L114L 342C>T CESC-US 1 26620814 26620814 single base substitution G A synonymous_variant L147L 441C>T CESC-US 1 26620814 26620814 single base substitution G A synonymous_variant L72L 216C>T CLLE-ES 1 26609365 26609365 single base substitution C T downstream_gene_variant CLLE-ES 1 26609365 26609365 single base substitution C T exon_variant CLLE-ES 1 26609365 26609365 single base substitution C T missense_variant E138K 412G>A CLLE-ES 1 26609365 26609365 single base substitution C T missense_variant E261K 781G>A CLLE-ES 1 26609365 26609365 single base substitution C T missense_variant E348K 1042G>A CLLE-ES 1 26609365 26609365 single base substitution C T missense_variant E381K 1141G>A CLLE-ES 1 26617224 26617224 single base substitution G A downstream_gene_variant CLLE-ES 1 26617224 26617224 single base substitution G A intron_variant CLLE-ES 1 26645036 26645036 single base substitution C T upstream_gene_variant COAD-US 1 26608843 26608843 insertion of <=200bp - GGGACA downstream_gene_variant COAD-US 1 26608843 26608843 insertion of <=200bp - GGGACA exon_variant COAD-US 1 26608843 26608843 insertion of <=200bp - GGGACA inframe_insertion G261VSR COAD-US 1 26608843 26608843 insertion of <=200bp - GGGACA inframe_insertion G384VSR COAD-US 1 26608843 26608843 insertion of <=200bp - GGGACA inframe_insertion G471VSR COAD-US 1 26608843 26608843 insertion of <=200bp - GGGACA inframe_insertion G504VSR COAD-US 1 26608843 26608843 single base substitution C A downstream_gene_variant COAD-US 1 26608843 26608843 single base substitution C A exon_variant COAD-US 1 26608843 26608843 single base substitution C A missense_variant G261C 781G>T COAD-US 1 26608843 26608843 single base substitution C A missense_variant G384C 1150G>T COAD-US 1 26608843 26608843 single base substitution C A missense_variant G471C 1411G>T COAD-US 1 26608843 26608843 single base substitution C A missense_variant G504C 1510G>T COAD-US 1 26608849 26608849 single base substitution T A downstream_gene_variant COAD-US 1 26608849 26608849 single base substitution T A exon_variant COAD-US 1 26608849 26608849 single base substitution T A missense_variant S259C 775A>T COAD-US 1 26608849 26608849 single base substitution T A missense_variant S382C 1144A>T COAD-US 1 26608849 26608849 single base substitution T A missense_variant S469C 1405A>T COAD-US 1 26608849 26608849 single base substitution T A missense_variant S502C 1504A>T COAD-US 1 26608852 26608852 single base substitution G A downstream_gene_variant COAD-US 1 26608852 26608852 single base substitution G A exon_variant COAD-US 1 26608852 26608852 single base substitution G A missense_variant P258S 772C>T COAD-US 1 26608852 26608852 single base substitution G A missense_variant P381S 1141C>T COAD-US 1 26608852 26608852 single base substitution G A missense_variant P468S 1402C>T COAD-US 1 26608852 26608852 single base substitution G A missense_variant P501S 1501C>T COAD-US 1 26608865 26608865 single base substitution A G downstream_gene_variant COAD-US 1 26608865 26608865 single base substitution A G exon_variant COAD-US 1 26608865 26608865 single base substitution A G synonymous_variant G253G 759T>C COAD-US 1 26608865 26608865 single base substitution A G synonymous_variant G376G 1128T>C COAD-US 1 26608865 26608865 single base substitution A G synonymous_variant G463G 1389T>C COAD-US 1 26608865 26608865 single base substitution A G synonymous_variant G496G 1488T>C COAD-US 1 26608866 26608866 single base substitution C G downstream_gene_variant COAD-US 1 26608866 26608866 single base substitution C G exon_variant COAD-US 1 26608866 26608866 single base substitution C G missense_variant G253A 758G>C COAD-US 1 26608866 26608866 single base substitution C G missense_variant G376A 1127G>C COAD-US 1 26608866 26608866 single base substitution C G missense_variant G463A 1388G>C COAD-US 1 26608866 26608866 single base substitution C G missense_variant G496A 1487G>C COAD-US 1 26608867 26608867 single base substitution C A downstream_gene_variant COAD-US 1 26608867 26608867 single base substitution C A exon_variant COAD-US 1 26608867 26608867 single base substitution C A missense_variant G253C 757G>T COAD-US 1 26608867 26608867 single base substitution C A missense_variant G376C 1126G>T COAD-US 1 26608867 26608867 single base substitution C A missense_variant G463C 1387G>T COAD-US 1 26608867 26608867 single base substitution C A missense_variant G496C 1486G>T COAD-US 1 26608873 26608873 single base substitution T A downstream_gene_variant COAD-US 1 26608873 26608873 single base substitution T A exon_variant COAD-US 1 26608873 26608873 single base substitution T A missense_variant S251C 751A>T COAD-US 1 26608873 26608873 single base substitution T A missense_variant S374C 1120A>T COAD-US 1 26608873 26608873 single base substitution T A missense_variant S461C 1381A>T COAD-US 1 26608873 26608873 single base substitution T A missense_variant S494C 1480A>T COAD-US 1 26608874 26608879 deletion of <=200bp GGGGCC - downstream_gene_variant COAD-US 1 26608874 26608879 deletion of <=200bp GGGGCC - exon_variant COAD-US 1 26608874 26608879 deletion of <=200bp GGGGCC - inframe_deletion GP249 COAD-US 1 26608874 26608879 deletion of <=200bp GGGGCC - inframe_deletion GP372 COAD-US 1 26608874 26608879 deletion of <=200bp GGGGCC - inframe_deletion GP459 COAD-US 1 26608874 26608879 deletion of <=200bp GGGGCC - inframe_deletion GP492 COAD-US 1 26608877 26608877 single base substitution G A downstream_gene_variant COAD-US 1 26608877 26608877 single base substitution G A exon_variant COAD-US 1 26608877 26608877 single base substitution G A synonymous_variant G249G 747C>T COAD-US 1 26608877 26608877 single base substitution G A synonymous_variant G372G 1116C>T COAD-US 1 26608877 26608877 single base substitution G A synonymous_variant G459G 1377C>T COAD-US 1 26608877 26608877 single base substitution G A synonymous_variant G492G 1476C>T COAD-US 1 26608878 26608883 deletion of <=200bp CCGGGA - disruptive_inframe_deletion GPG247G COAD-US 1 26608878 26608883 deletion of <=200bp CCGGGA - disruptive_inframe_deletion GPG370G COAD-US 1 26608878 26608883 deletion of <=200bp CCGGGA - disruptive_inframe_deletion GPG457G COAD-US 1 26608878 26608883 deletion of <=200bp CCGGGA - disruptive_inframe_deletion GPG490G COAD-US 1 26608878 26608883 deletion of <=200bp CCGGGA - downstream_gene_variant COAD-US 1 26608878 26608883 deletion of <=200bp CCGGGA - exon_variant COAD-US 1 26608896 26608896 single base substitution C G downstream_gene_variant COAD-US 1 26608896 26608896 single base substitution C G exon_variant COAD-US 1 26608896 26608896 single base substitution C G missense_variant C243S 728G>C COAD-US 1 26608896 26608896 single base substitution C G missense_variant C366S 1097G>C COAD-US 1 26608896 26608896 single base substitution C G missense_variant C453S 1358G>C COAD-US 1 26608896 26608896 single base substitution C G missense_variant C486S 1457G>C COAD-US 1 26609016 26609016 single base substitution G T downstream_gene_variant COAD-US 1 26609016 26609016 single base substitution G T exon_variant COAD-US 1 26609016 26609016 single base substitution G T missense_variant P203H 608C>A COAD-US 1 26609016 26609016 single base substitution G T missense_variant P326H 977C>A COAD-US 1 26609016 26609016 single base substitution G T missense_variant P413H 1238C>A COAD-US 1 26609016 26609016 single base substitution G T missense_variant P446H 1337C>A COAD-US 1 26609063 26609063 deletion of <=200bp G - downstream_gene_variant COAD-US 1 26609063 26609063 deletion of <=200bp G - intron_variant COAD-US 1 26609374 26609374 single base substitution A C downstream_gene_variant COAD-US 1 26609374 26609374 single base substitution A C exon_variant COAD-US 1 26609374 26609374 single base substitution A C missense_variant L135V 403T>G COAD-US 1 26609374 26609374 single base substitution A C missense_variant L258V 772T>G COAD-US 1 26609374 26609374 single base substitution A C missense_variant L345V 1033T>G COAD-US 1 26609374 26609374 single base substitution A C missense_variant L378V 1132T>G COAD-US 1 26644515 26644515 single base substitution C T intron_variant COAD-US 1 26646688 26646688 single base substitution C T upstream_gene_variant COAD-US 1 26646730 26646730 single base substitution A G upstream_gene_variant COCA-CN 1 26608769 26608769 single base substitution C T 3_prime_UTR_variant COCA-CN 1 26608769 26608769 single base substitution C T downstream_gene_variant COCA-CN 1 26608843 26608843 single base substitution C A downstream_gene_variant COCA-CN 1 26608843 26608843 single base substitution C A exon_variant COCA-CN 1 26608843 26608843 single base substitution C A missense_variant G261C 781G>T COCA-CN 1 26608843 26608843 single base substitution C A missense_variant G384C 1150G>T COCA-CN 1 26608843 26608843 single base substitution C A missense_variant G471C 1411G>T COCA-CN 1 26608843 26608843 single base substitution C A missense_variant G504C 1510G>T COCA-CN 1 26608852 26608852 single base substitution G A downstream_gene_variant COCA-CN 1 26608852 26608852 single base substitution G A exon_variant COCA-CN 1 26608852 26608852 single base substitution G A missense_variant P258S 772C>T COCA-CN 1 26608852 26608852 single base substitution G A missense_variant P381S 1141C>T COCA-CN 1 26608852 26608852 single base substitution G A missense_variant P468S 1402C>T COCA-CN 1 26608852 26608852 single base substitution G A missense_variant P501S 1501C>T COCA-CN 1 26608873 26608873 single base substitution T A downstream_gene_variant COCA-CN 1 26608873 26608873 single base substitution T A exon_variant COCA-CN 1 26608873 26608873 single base substitution T A missense_variant S251C 751A>T COCA-CN 1 26608873 26608873 single base substitution T A missense_variant S374C 1120A>T COCA-CN 1 26608873 26608873 single base substitution T A missense_variant S461C 1381A>T COCA-CN 1 26608873 26608873 single base substitution T A missense_variant S494C 1480A>T COCA-CN 1 26608877 26608877 single base substitution G A downstream_gene_variant COCA-CN 1 26608877 26608877 single base substitution G A exon_variant COCA-CN 1 26608877 26608877 single base substitution G A synonymous_variant G249G 747C>T COCA-CN 1 26608877 26608877 single base substitution G A synonymous_variant G372G 1116C>T COCA-CN 1 26608877 26608877 single base substitution G A synonymous_variant G459G 1377C>T COCA-CN 1 26608877 26608877 single base substitution G A synonymous_variant G492G 1476C>T COCA-CN 1 26608879 26608879 single base substitution C T downstream_gene_variant COCA-CN 1 26608879 26608879 single base substitution C T exon_variant COCA-CN 1 26608879 26608879 single base substitution C T missense_variant G249S 745G>A COCA-CN 1 26608879 26608879 single base substitution C T missense_variant G372S 1114G>A COCA-CN 1 26608879 26608879 single base substitution C T missense_variant G459S 1375G>A COCA-CN 1 26608879 26608879 single base substitution C T missense_variant G492S 1474G>A COCA-CN 1 26608883 26608883 single base substitution A G downstream_gene_variant COCA-CN 1 26608883 26608883 single base substitution A G exon_variant COCA-CN 1 26608883 26608883 single base substitution A G synonymous_variant G247G 741T>C COCA-CN 1 26608883 26608883 single base substitution A G synonymous_variant G370G 1110T>C COCA-CN 1 26608883 26608883 single base substitution A G synonymous_variant G457G 1371T>C COCA-CN 1 26608883 26608883 single base substitution A G synonymous_variant G490G 1470T>C COCA-CN 1 26608889 26608889 single base substitution A T downstream_gene_variant COCA-CN 1 26608889 26608889 single base substitution A T exon_variant COCA-CN 1 26608889 26608889 single base substitution A T synonymous_variant G245G 735T>A COCA-CN 1 26608889 26608889 single base substitution A T synonymous_variant G368G 1104T>A COCA-CN 1 26608889 26608889 single base substitution A T synonymous_variant G455G 1365T>A COCA-CN 1 26608889 26608889 single base substitution A T synonymous_variant G488G 1464T>A COCA-CN 1 26608891 26608891 single base substitution C A downstream_gene_variant COCA-CN 1 26608891 26608891 single base substitution C A exon_variant COCA-CN 1 26608891 26608891 single base substitution C A missense_variant G245C 733G>T COCA-CN 1 26608891 26608891 single base substitution C A missense_variant G368C 1102G>T COCA-CN 1 26608891 26608891 single base substitution C A missense_variant G455C 1363G>T COCA-CN 1 26608891 26608891 single base substitution C A missense_variant G488C 1462G>T COCA-CN 1 26609259 26609259 single base substitution C T downstream_gene_variant COCA-CN 1 26609259 26609259 single base substitution C T exon_variant COCA-CN 1 26609259 26609259 single base substitution C T synonymous_variant T148T 444G>A COCA-CN 1 26609259 26609259 single base substitution C T synonymous_variant T271T 813G>A COCA-CN 1 26609259 26609259 single base substitution C T synonymous_variant T358T 1074G>A COCA-CN 1 26609259 26609259 single base substitution C T synonymous_variant T391T 1173G>A COCA-CN 1 26609489 26609489 single base substitution A G downstream_gene_variant COCA-CN 1 26609489 26609489 single base substitution A G intron_variant COCA-CN 1 26623450 26623450 single base substitution G A 5_prime_UTR_premature_start_codon_gain_variant COCA-CN 1 26623450 26623450 single base substitution G A exon_variant COCA-CN 1 26623450 26623450 single base substitution G A intron_variant COCA-CN 1 26623450 26623450 single base substitution G A missense_variant T131M 392C>T COCA-CN 1 26623450 26623450 single base substitution G A missense_variant T56M 167C>T COCA-CN 1 26623450 26623450 single base substitution G A missense_variant T93M 278C>T COCA-CN 1 26623450 26623450 single base substitution G A missense_variant T98M 293C>T COCA-CN 1 26627283 26627283 single base substitution A G intron_variant COCA-CN 1 26627283 26627283 single base substitution A G upstream_gene_variant COCA-CN 1 26648680 26648680 single base substitution G A upstream_gene_variant EOPC-DE 1 26642980 26642980 single base substitution A G intron_variant ESAD-UK 1 26604165 26604165 single base substitution G A downstream_gene_variant ESAD-UK 1 26605190 26605190 single base substitution A T downstream_gene_variant ESAD-UK 1 26606870 26606870 single base substitution A G downstream_gene_variant ESAD-UK 1 26608683 26608683 single base substitution G T 3_prime_UTR_variant ESAD-UK 1 26608683 26608683 single base substitution G T downstream_gene_variant ESAD-UK 1 26610961 26610961 single base substitution G A downstream_gene_variant ESAD-UK 1 26610961 26610961 single base substitution G A exon_variant ESAD-UK 1 26610961 26610961 single base substitution G A missense_variant R169C 505C>T ESAD-UK 1 26610961 26610961 single base substitution G A missense_variant R256C 766C>T ESAD-UK 1 26610961 26610961 single base substitution G A missense_variant R289C 865C>T ESAD-UK 1 26610961 26610961 single base substitution G A missense_variant R46C 136C>T ESAD-UK 1 26611378 26611378 single base substitution G T downstream_gene_variant ESAD-UK 1 26611378 26611378 single base substitution G T exon_variant ESAD-UK 1 26611378 26611378 single base substitution G T intron_variant ESAD-UK 1 26619105 26619105 single base substitution G T downstream_gene_variant ESAD-UK 1 26619105 26619105 single base substitution G T intron_variant ESAD-UK 1 26619217 26619217 single base substitution C T downstream_gene_variant ESAD-UK 1 26619217 26619217 single base substitution C T intron_variant ESAD-UK 1 26619986 26619986 single base substitution A G downstream_gene_variant ESAD-UK 1 26619986 26619986 single base substitution A G intron_variant ESAD-UK 1 26620997 26620997 single base substitution C T downstream_gene_variant ESAD-UK 1 26620997 26620997 single base substitution C T intron_variant ESAD-UK 1 26622764 26622764 single base substitution G A downstream_gene_variant ESAD-UK 1 26622764 26622764 single base substitution G A intron_variant ESAD-UK 1 26623484 26623484 single base substitution C T intron_variant ESAD-UK 1 26623484 26623484 single base substitution C T missense_variant E120K 358G>A ESAD-UK 1 26623484 26623484 single base substitution C T missense_variant E45K 133G>A ESAD-UK 1 26623484 26623484 single base substitution C T missense_variant E82K 244G>A ESAD-UK 1 26623484 26623484 single base substitution C T missense_variant E87K 259G>A ESAD-UK 1 26623484 26623484 single base substitution C T splice_region_variant ESAD-UK 1 26626341 26626341 single base substitution C A intron_variant ESAD-UK 1 26626341 26626341 single base substitution C A upstream_gene_variant ESAD-UK 1 26626764 26626764 single base substitution C T intron_variant ESAD-UK 1 26626764 26626764 single base substitution C T upstream_gene_variant ESAD-UK 1 26626774 26626774 single base substitution G A intron_variant ESAD-UK 1 26626774 26626774 single base substitution G A upstream_gene_variant ESAD-UK 1 26630377 26630377 single base substitution G A intron_variant ESAD-UK 1 26630377 26630377 single base substitution G A upstream_gene_variant ESAD-UK 1 26631101 26631101 single base substitution G A intron_variant ESAD-UK 1 26631101 26631101 single base substitution G A upstream_gene_variant ESAD-UK 1 26636043 26636043 single base substitution T A intron_variant ESAD-UK 1 26636043 26636043 single base substitution T A upstream_gene_variant ESAD-UK 1 26636044 26636044 single base substitution A T intron_variant ESAD-UK 1 26636044 26636044 single base substitution A T upstream_gene_variant ESAD-UK 1 26636795 26636795 single base substitution G A intron_variant ESAD-UK 1 26636795 26636795 single base substitution G A upstream_gene_variant ESAD-UK 1 26636902 26636902 single base substitution G A intron_variant ESAD-UK 1 26636902 26636902 single base substitution G A upstream_gene_variant ESAD-UK 1 26637878 26637878 single base substitution G A intron_variant ESAD-UK 1 26637878 26637878 single base substitution G A upstream_gene_variant ESAD-UK 1 26640567 26640567 single base substitution G A intron_variant ESAD-UK 1 26643718 26643718 single base substitution A G intron_variant ESAD-UK 1 26643728 26643728 single base substitution A C intron_variant ESAD-UK 1 26645162 26645162 single base substitution G A upstream_gene_variant ESAD-UK 1 26648141 26648141 single base substitution G A upstream_gene_variant ESCA-CN 1 26603760 26603760 single base substitution G T downstream_gene_variant KIRC-US 1 26608878 26608883 deletion of <=200bp CCGGGA - disruptive_inframe_deletion GPG247G KIRC-US 1 26608878 26608883 deletion of <=200bp CCGGGA - disruptive_inframe_deletion GPG370G KIRC-US 1 26608878 26608883 deletion of <=200bp CCGGGA - disruptive_inframe_deletion GPG457G KIRC-US 1 26608878 26608883 deletion of <=200bp CCGGGA - disruptive_inframe_deletion GPG490G KIRC-US 1 26608878 26608883 deletion of <=200bp CCGGGA - downstream_gene_variant KIRC-US 1 26608878 26608883 deletion of <=200bp CCGGGA - exon_variant KIRC-US 1 26608890 26608891 deletion of <=200bp CC - downstream_gene_variant KIRC-US 1 26608890 26608891 deletion of <=200bp CC - exon_variant KIRC-US 1 26608890 26608891 deletion of <=200bp CC - frameshift_variant G245 KIRC-US 1 26608890 26608891 deletion of <=200bp CC - frameshift_variant G368 KIRC-US 1 26608890 26608891 deletion of <=200bp CC - frameshift_variant G455 KIRC-US 1 26608890 26608891 deletion of <=200bp CC - frameshift_variant G488 KIRC-US 1 26608893 26608896 deletion of <=200bp GGAC - downstream_gene_variant KIRC-US 1 26608893 26608896 deletion of <=200bp GGAC - exon_variant KIRC-US 1 26608893 26608896 deletion of <=200bp GGAC - frameshift_variant CP243 KIRC-US 1 26608893 26608896 deletion of <=200bp GGAC - frameshift_variant CP366 KIRC-US 1 26608893 26608896 deletion of <=200bp GGAC - frameshift_variant CP453 KIRC-US 1 26608893 26608896 deletion of <=200bp GGAC - frameshift_variant CP486 KIRC-US 1 26609138 26609138 single base substitution A C downstream_gene_variant KIRC-US 1 26609138 26609138 single base substitution A C splice_donor_variant KIRC-US 1 26623424 26623424 single base substitution C G 5_prime_UTR_variant KIRC-US 1 26623424 26623424 single base substitution C G downstream_gene_variant KIRC-US 1 26623424 26623424 single base substitution C G exon_variant KIRC-US 1 26623424 26623424 single base substitution C G intron_variant KIRC-US 1 26623424 26623424 single base substitution C G missense_variant V102L 304G>C KIRC-US 1 26623424 26623424 single base substitution C G missense_variant V107L 319G>C KIRC-US 1 26623424 26623424 single base substitution C G missense_variant V140L 418G>C KIRC-US 1 26623424 26623424 single base substitution C G missense_variant V65L 193G>C KIRP-US 1 26603078 26603078 single base substitution A T downstream_gene_variant KIRP-US 1 26608820 26608843 deletion of <=200bp GGGACTGGGGCCGGGACCGGGACC - downstream_gene_variant KIRP-US 1 26608820 26608843 deletion of <=200bp GGGACTGGGGCCGGGACCGGGACC - exon_variant KIRP-US 1 26608820 26608843 deletion of <=200bp GGGACTGGGGCCGGGACCGGGACC - inframe_deletion GPGPGPSP261 KIRP-US 1 26608820 26608843 deletion of <=200bp GGGACTGGGGCCGGGACCGGGACC - inframe_deletion GPGPGPSP384 KIRP-US 1 26608820 26608843 deletion of <=200bp GGGACTGGGGCCGGGACCGGGACC - inframe_deletion GPGPGPSP471 KIRP-US 1 26608820 26608843 deletion of <=200bp GGGACTGGGGCCGGGACCGGGACC - inframe_deletion GPGPGPSP504 LAML-KR 1 26603831 26603831 single base substitution C G downstream_gene_variant LAML-KR 1 26608838 26608838 single base substitution G A downstream_gene_variant LAML-KR 1 26608838 26608838 single base substitution G A exon_variant LAML-KR 1 26608838 26608838 single base substitution G A synonymous_variant P262P 786C>T LAML-KR 1 26608838 26608838 single base substitution G A synonymous_variant P385P 1155C>T LAML-KR 1 26608838 26608838 single base substitution G A synonymous_variant P472P 1416C>T LAML-KR 1 26608838 26608838 single base substitution G A synonymous_variant P505P 1515C>T LAML-KR 1 26608873 26608873 single base substitution T C downstream_gene_variant LAML-KR 1 26608873 26608873 single base substitution T C exon_variant LAML-KR 1 26608873 26608873 single base substitution T C missense_variant S251G 751A>G LAML-KR 1 26608873 26608873 single base substitution T C missense_variant S374G 1120A>G LAML-KR 1 26608873 26608873 single base substitution T C missense_variant S461G 1381A>G LAML-KR 1 26608873 26608873 single base substitution T C missense_variant S494G 1480A>G LAML-KR 1 26608885 26608885 single base substitution C T downstream_gene_variant LAML-KR 1 26608885 26608885 single base substitution C T exon_variant LAML-KR 1 26608885 26608885 single base substitution C T missense_variant G247S 739G>A LAML-KR 1 26608885 26608885 single base substitution C T missense_variant G370S 1108G>A LAML-KR 1 26608885 26608885 single base substitution C T missense_variant G457S 1369G>A LAML-KR 1 26608885 26608885 single base substitution C T missense_variant G490S 1468G>A LAML-KR 1 26608889 26608889 single base substitution A T downstream_gene_variant LAML-KR 1 26608889 26608889 single base substitution A T exon_variant LAML-KR 1 26608889 26608889 single base substitution A T synonymous_variant G245G 735T>A LAML-KR 1 26608889 26608889 single base substitution A T synonymous_variant G368G 1104T>A LAML-KR 1 26608889 26608889 single base substitution A T synonymous_variant G455G 1365T>A LAML-KR 1 26608889 26608889 single base substitution A T synonymous_variant G488G 1464T>A LAML-KR 1 26627478 26627478 single base substitution T C exon_variant LAML-KR 1 26627478 26627478 single base substitution T C intron_variant LAML-KR 1 26627478 26627478 single base substitution T C synonymous_variant S46S 138A>G LAML-KR 1 26627478 26627478 single base substitution T C synonymous_variant S8S 24A>G LAML-KR 1 26627478 26627478 single base substitution T C upstream_gene_variant LAML-KR 1 26648551 26648551 single base substitution G C upstream_gene_variant LICA-CN 1 26623465 26623465 single base substitution T A 5_prime_UTR_premature_start_codon_gain_variant LICA-CN 1 26623465 26623465 single base substitution T A exon_variant LICA-CN 1 26623465 26623465 single base substitution T A intron_variant LICA-CN 1 26623465 26623465 single base substitution T A missense_variant Q126L 377A>T LICA-CN 1 26623465 26623465 single base substitution T A missense_variant Q51L 152A>T LICA-CN 1 26623465 26623465 single base substitution T A missense_variant Q88L 263A>T LICA-CN 1 26623465 26623465 single base substitution T A missense_variant Q93L 278A>T LICA-FR 1 26606667 26606667 single base substitution C T downstream_gene_variant LICA-FR 1 26643378 26643378 single base substitution A G intron_variant LICA-FR 1 26647290 26647290 single base substitution C T upstream_gene_variant LICA-FR 1 26648538 26648538 single base substitution C T upstream_gene_variant LINC-JP 1 26603874 26603874 single base substitution T G downstream_gene_variant LINC-JP 1 26606371 26606371 single base substitution A G downstream_gene_variant LINC-JP 1 26606687 26606687 single base substitution C A downstream_gene_variant LINC-JP 1 26606766 26606766 single base substitution C T downstream_gene_variant LINC-JP 1 26608893 26608896 deletion of <=200bp GGAC - downstream_gene_variant LINC-JP 1 26608893 26608896 deletion of <=200bp GGAC - exon_variant LINC-JP 1 26608893 26608896 deletion of <=200bp GGAC - frameshift_variant CP243 LINC-JP 1 26608893 26608896 deletion of <=200bp GGAC - frameshift_variant CP366 LINC-JP 1 26608893 26608896 deletion of <=200bp GGAC - frameshift_variant CP453 LINC-JP 1 26608893 26608896 deletion of <=200bp GGAC - frameshift_variant CP486 LINC-JP 1 26617408 26617408 single base substitution C T downstream_gene_variant LINC-JP 1 26617408 26617408 single base substitution C T intron_variant LINC-JP 1 26628171 26628171 single base substitution C T intron_variant LINC-JP 1 26628171 26628171 single base substitution C T upstream_gene_variant LINC-JP 1 26637783 26637783 single base substitution C A intron_variant LINC-JP 1 26637783 26637783 single base substitution C A upstream_gene_variant LIRI-JP 1 26603607 26603607 single base substitution A C downstream_gene_variant LIRI-JP 1 26603964 26603964 single base substitution G T downstream_gene_variant LIRI-JP 1 26604891 26604891 single base substitution T G downstream_gene_variant LIRI-JP 1 26604893 26604893 single base substitution C G downstream_gene_variant LIRI-JP 1 26605455 26605455 single base substitution A C downstream_gene_variant LIRI-JP 1 26606201 26606201 single base substitution A T downstream_gene_variant LIRI-JP 1 26607567 26607567 single base substitution G A downstream_gene_variant LIRI-JP 1 26612361 26612361 single base substitution T G 5_prime_UTR_premature_start_codon_gain_variant LIRI-JP 1 26612361 26612361 single base substitution T G downstream_gene_variant LIRI-JP 1 26612361 26612361 single base substitution T G exon_variant LIRI-JP 1 26612361 26612361 single base substitution T G missense_variant M123L 367A>C LIRI-JP 1 26612361 26612361 single base substitution T G missense_variant M168L 502A>C LIRI-JP 1 26612361 26612361 single base substitution T G missense_variant M205L 613A>C LIRI-JP 1 26612361 26612361 single base substitution T G missense_variant M210L 628A>C LIRI-JP 1 26612361 26612361 single base substitution T G missense_variant M243L 727A>C LIRI-JP 1 26612361 26612361 single base substitution T G missense_variant M85L 253A>C LIRI-JP 1 26613852 26613852 single base substitution G A intron_variant LIRI-JP 1 26615298 26615298 single base substitution C T intron_variant LIRI-JP 1 26616064 26616064 single base substitution A G downstream_gene_variant LIRI-JP 1 26616064 26616064 single base substitution A G intron_variant LIRI-JP 1 26619960 26619960 single base substitution T A downstream_gene_variant LIRI-JP 1 26619960 26619960 single base substitution T A intron_variant LIRI-JP 1 26620404 26620404 single base substitution T C downstream_gene_variant LIRI-JP 1 26620404 26620404 single base substitution T C intron_variant LIRI-JP 1 26620958 26620958 single base substitution G A downstream_gene_variant LIRI-JP 1 26620958 26620958 single base substitution G A intron_variant LIRI-JP 1 26621439 26621439 single base substitution C A downstream_gene_variant LIRI-JP 1 26621439 26621439 single base substitution C A intron_variant LIRI-JP 1 26623932 26623932 single base substitution A G 5_prime_UTR_variant LIRI-JP 1 26623932 26623932 single base substitution A G exon_variant LIRI-JP 1 26623932 26623932 single base substitution A G intron_variant LIRI-JP 1 26623932 26623932 single base substitution A G missense_variant L114P 341T>C LIRI-JP 1 26623932 26623932 single base substitution A G missense_variant L39P 116T>C LIRI-JP 1 26623932 26623932 single base substitution A G missense_variant L76P 227T>C LIRI-JP 1 26623932 26623932 single base substitution A G missense_variant L81P 242T>C LIRI-JP 1 26624602 26624602 single base substitution A G intron_variant LIRI-JP 1 26624602 26624602 single base substitution A G upstream_gene_variant LIRI-JP 1 26625572 26625572 single base substitution G A intron_variant LIRI-JP 1 26625572 26625572 single base substitution G A upstream_gene_variant LIRI-JP 1 26629421 26629421 single base substitution C A 5_prime_UTR_variant LIRI-JP 1 26629421 26629421 single base substitution C A intron_variant LIRI-JP 1 26629421 26629421 single base substitution C A upstream_gene_variant LIRI-JP 1 26630805 26630805 single base substitution C T intron_variant LIRI-JP 1 26630805 26630805 single base substitution C T upstream_gene_variant LIRI-JP 1 26631309 26631309 single base substitution T C intron_variant LIRI-JP 1 26631309 26631309 single base substitution T C upstream_gene_variant LIRI-JP 1 26633836 26633836 single base substitution A G intron_variant LIRI-JP 1 26633836 26633836 single base substitution A G upstream_gene_variant LIRI-JP 1 26635201 26635201 single base substitution G T intron_variant LIRI-JP 1 26635201 26635201 single base substitution G T upstream_gene_variant LIRI-JP 1 26635202 26635202 single base substitution A T intron_variant LIRI-JP 1 26635202 26635202 single base substitution A T upstream_gene_variant LIRI-JP 1 26636407 26636407 single base substitution T C intron_variant LIRI-JP 1 26636407 26636407 single base substitution T C upstream_gene_variant LIRI-JP 1 26648576 26648576 single base substitution G A upstream_gene_variant LIRI-JP 1 26649487 26649487 single base substitution T C upstream_gene_variant LUSC-CN 1 26646914 26646914 single base substitution A T upstream_gene_variant LUSC-KR 1 26609771 26609771 single base substitution C A downstream_gene_variant LUSC-KR 1 26609771 26609771 single base substitution C A intron_variant LUSC-KR 1 26615491 26615491 single base substitution T G intron_variant LUSC-KR 1 26621697 26621697 single base substitution G C downstream_gene_variant LUSC-KR 1 26621697 26621697 single base substitution G C intron_variant LUSC-KR 1 26625303 26625303 single base substitution T A intron_variant LUSC-KR 1 26625303 26625303 single base substitution T A upstream_gene_variant LUSC-KR 1 26639002 26639002 single base substitution C G intron_variant LUSC-KR 1 26645629 26645629 single base substitution G A upstream_gene_variant LUSC-KR 1 26646628 26646628 single base substitution G A upstream_gene_variant LUSC-US 1 26603162 26603162 single base substitution G C downstream_gene_variant LUSC-US 1 26608936 26608936 single base substitution G A downstream_gene_variant LUSC-US 1 26608936 26608936 single base substitution G A exon_variant LUSC-US 1 26608936 26608936 single base substitution G A stop_gained R230* 688C>T LUSC-US 1 26608936 26608936 single base substitution G A stop_gained R353* 1057C>T LUSC-US 1 26608936 26608936 single base substitution G A stop_gained R440* 1318C>T LUSC-US 1 26608936 26608936 single base substitution G A stop_gained R473* 1417C>T LUSC-US 1 26611997 26611997 single base substitution G C downstream_gene_variant LUSC-US 1 26611997 26611997 single base substitution G C exon_variant LUSC-US 1 26611997 26611997 single base substitution G C synonymous_variant P112P 336C>G LUSC-US 1 26611997 26611997 single base substitution G C synonymous_variant P150P 450C>G LUSC-US 1 26611997 26611997 single base substitution G C synonymous_variant P195P 585C>G LUSC-US 1 26611997 26611997 single base substitution G C synonymous_variant P232P 696C>G LUSC-US 1 26611997 26611997 single base substitution G C synonymous_variant P237P 711C>G LUSC-US 1 26611997 26611997 single base substitution G C synonymous_variant P270P 810C>G LUSC-US 1 26611997 26611997 single base substitution G C synonymous_variant P27P 81C>G LUSC-US 1 26612496 26612496 single base substitution C T 5_prime_UTR_variant LUSC-US 1 26612496 26612496 single base substitution C T exon_variant LUSC-US 1 26612496 26612496 single base substitution C T missense_variant D123N 367G>A LUSC-US 1 26612496 26612496 single base substitution C T missense_variant D160N 478G>A LUSC-US 1 26612496 26612496 single base substitution C T missense_variant D165N 493G>A LUSC-US 1 26612496 26612496 single base substitution C T missense_variant D198N 592G>A LUSC-US 1 26612496 26612496 single base substitution C T missense_variant D40N 118G>A LUSC-US 1 26612496 26612496 single base substitution C T missense_variant D78N 232G>A MALY-DE 1 26608663 26608663 single base substitution G C 3_prime_UTR_variant MALY-DE 1 26608663 26608663 single base substitution G C downstream_gene_variant MALY-DE 1 26609310 26609310 single base substitution G A downstream_gene_variant MALY-DE 1 26609310 26609310 single base substitution G A intron_variant MALY-DE 1 26615990 26615990 single base substitution A G downstream_gene_variant MALY-DE 1 26615990 26615990 single base substitution A G intron_variant MALY-DE 1 26616046 26616046 single base substitution G A downstream_gene_variant MALY-DE 1 26616046 26616046 single base substitution G A intron_variant MALY-DE 1 26616047 26616047 single base substitution G C downstream_gene_variant MALY-DE 1 26616047 26616047 single base substitution G C intron_variant MALY-DE 1 26616090 26616090 single base substitution G A downstream_gene_variant MALY-DE 1 26616090 26616090 single base substitution G A intron_variant MALY-DE 1 26622466 26622466 single base substitution G C downstream_gene_variant MALY-DE 1 26622466 26622466 single base substitution G C intron_variant MALY-DE 1 26622781 26622781 single base substitution T C downstream_gene_variant MALY-DE 1 26622781 26622781 single base substitution T C intron_variant MALY-DE 1 26636043 26636043 single base substitution T A intron_variant MALY-DE 1 26636043 26636043 single base substitution T A upstream_gene_variant MALY-DE 1 26643890 26643890 single base substitution A G intron_variant MALY-DE 1 26643891 26643891 single base substitution A C intron_variant MALY-DE 1 26643899 26643899 single base substitution A G intron_variant MALY-DE 1 26646339 26646339 single base substitution A T upstream_gene_variant MALY-DE 1 26646365 26646365 single base substitution T C upstream_gene_variant MALY-DE 1 26647375 26647375 single base substitution G A upstream_gene_variant MALY-DE 1 26649393 26649393 single base substitution C G upstream_gene_variant MELA-AU 1 26602966 26602966 single base substitution C A downstream_gene_variant MELA-AU 1 26603913 26603913 deletion of <=200bp T - downstream_gene_variant MELA-AU 1 26604049 26604049 single base substitution T C downstream_gene_variant MELA-AU 1 26605068 26605068 single base substitution A T downstream_gene_variant MELA-AU 1 26606029 26606029 single base substitution G A downstream_gene_variant MELA-AU 1 26606077 26606078 multiple base substitution (>=2bp and <=200bp) CC TT downstream_gene_variant MELA-AU 1 26606163 26606163 single base substitution C G downstream_gene_variant MELA-AU 1 26606185 26606185 single base substitution T C downstream_gene_variant MELA-AU 1 26606757 26606757 single base substitution C T downstream_gene_variant MELA-AU 1 26607031 26607031 single base substitution C T downstream_gene_variant MELA-AU 1 26607167 26607167 single base substitution C T downstream_gene_variant MELA-AU 1 26607202 26607202 single base substitution C T downstream_gene_variant MELA-AU 1 26607288 26607288 single base substitution C T downstream_gene_variant MELA-AU 1 26607788 26607788 single base substitution C T downstream_gene_variant MELA-AU 1 26608171 26608171 single base substitution C T 3_prime_UTR_variant MELA-AU 1 26608171 26608171 single base substitution C T downstream_gene_variant MELA-AU 1 26609346 26609346 single base substitution C G downstream_gene_variant MELA-AU 1 26609346 26609346 single base substitution C G intron_variant MELA-AU 1 26609819 26609819 single base substitution G A downstream_gene_variant MELA-AU 1 26609819 26609819 single base substitution G A intron_variant MELA-AU 1 26610081 26610081 single base substitution G A downstream_gene_variant MELA-AU 1 26610081 26610081 single base substitution G A intron_variant MELA-AU 1 26610683 26610683 single base substitution G A downstream_gene_variant MELA-AU 1 26610683 26610683 single base substitution G A exon_variant MELA-AU 1 26610683 26610683 single base substitution G A missense_variant R100W 298C>T MELA-AU 1 26610683 26610683 single base substitution G A missense_variant R223W 667C>T MELA-AU 1 26610683 26610683 single base substitution G A missense_variant R310W 928C>T MELA-AU 1 26610683 26610683 single base substitution G A missense_variant R343W 1027C>T MELA-AU 1 26611414 26611414 single base substitution G A downstream_gene_variant MELA-AU 1 26611414 26611414 single base substitution G A exon_variant MELA-AU 1 26611414 26611414 single base substitution G A intron_variant MELA-AU 1 26611786 26611786 single base substitution C T 3_prime_UTR_variant MELA-AU 1 26611786 26611786 single base substitution C T downstream_gene_variant MELA-AU 1 26611786 26611786 single base substitution C T exon_variant MELA-AU 1 26611786 26611786 single base substitution C T intron_variant MELA-AU 1 26611822 26611822 single base substitution C T 3_prime_UTR_variant MELA-AU 1 26611822 26611822 single base substitution C T downstream_gene_variant MELA-AU 1 26611822 26611822 single base substitution C T exon_variant MELA-AU 1 26611822 26611822 single base substitution C T intron_variant MELA-AU 1 26611968 26611969 multiple base substitution (>=2bp and <=200bp) CC TT downstream_gene_variant MELA-AU 1 26611968 26611969 multiple base substitution (>=2bp and <=200bp) CC TT exon_variant MELA-AU 1 26611968 26611969 multiple base substitution (>=2bp and <=200bp) CC TT missense_variant G122K 364GG>AA MELA-AU 1 26611968 26611969 multiple base substitution (>=2bp and <=200bp) CC TT missense_variant G160K 478GG>AA MELA-AU 1 26611968 26611969 multiple base substitution (>=2bp and <=200bp) CC TT missense_variant G205K 613GG>AA MELA-AU 1 26611968 26611969 multiple base substitution (>=2bp and <=200bp) CC TT missense_variant G242K 724GG>AA MELA-AU 1 26611968 26611969 multiple base substitution (>=2bp and <=200bp) CC TT missense_variant G247K 739GG>AA MELA-AU 1 26611968 26611969 multiple base substitution (>=2bp and <=200bp) CC TT missense_variant G280K 838GG>AA MELA-AU 1 26611968 26611969 multiple base substitution (>=2bp and <=200bp) CC TT missense_variant G37K 109GG>AA MELA-AU 1 26612137 26612137 single base substitution G A downstream_gene_variant MELA-AU 1 26612137 26612137 single base substitution G A intron_variant MELA-AU 1 26614275 26614275 single base substitution G A intron_variant MELA-AU 1 26614869 26614869 single base substitution G A intron_variant MELA-AU 1 26615462 26615462 single base substitution G A intron_variant MELA-AU 1 26615479 26615479 single base substitution G A intron_variant MELA-AU 1 26615481 26615481 single base substitution A G intron_variant MELA-AU 1 26615595 26615595 single base substitution G A intron_variant MELA-AU 1 26616293 26616293 single base substitution C T downstream_gene_variant MELA-AU 1 26616293 26616293 single base substitution C T intron_variant MELA-AU 1 26616470 26616470 single base substitution G A downstream_gene_variant MELA-AU 1 26616470 26616470 single base substitution G A intron_variant MELA-AU 1 26616998 26616998 single base substitution G A downstream_gene_variant MELA-AU 1 26616998 26616998 single base substitution G A intron_variant MELA-AU 1 26617152 26617152 single base substitution G A downstream_gene_variant MELA-AU 1 26617152 26617152 single base substitution G A intron_variant MELA-AU 1 26617309 26617309 single base substitution G A downstream_gene_variant MELA-AU 1 26617309 26617309 single base substitution G A intron_variant MELA-AU 1 26617359 26617359 single base substitution G A downstream_gene_variant MELA-AU 1 26617359 26617359 single base substitution G A intron_variant MELA-AU 1 26617769 26617770 multiple base substitution (>=2bp and <=200bp) AG GA downstream_gene_variant MELA-AU 1 26617769 26617770 multiple base substitution (>=2bp and <=200bp) AG GA intron_variant MELA-AU 1 26617850 26617850 single base substitution G A downstream_gene_variant MELA-AU 1 26617850 26617850 single base substitution G A intron_variant MELA-AU 1 26618014 26618014 single base substitution G A downstream_gene_variant MELA-AU 1 26618014 26618014 single base substitution G A intron_variant MELA-AU 1 26618256 26618256 single base substitution G A downstream_gene_variant MELA-AU 1 26618256 26618256 single base substitution G A intron_variant MELA-AU 1 26618689 26618689 single base substitution G A downstream_gene_variant MELA-AU 1 26618689 26618689 single base substitution G A intron_variant MELA-AU 1 26619041 26619041 single base substitution G A downstream_gene_variant MELA-AU 1 26619041 26619041 single base substitution G A intron_variant MELA-AU 1 26619754 26619754 single base substitution C G downstream_gene_variant MELA-AU 1 26619754 26619754 single base substitution C G intron_variant MELA-AU 1 26619896 26619896 single base substitution G A downstream_gene_variant MELA-AU 1 26619896 26619896 single base substitution G A intron_variant MELA-AU 1 26620318 26620318 single base substitution G A downstream_gene_variant MELA-AU 1 26620318 26620318 single base substitution G A intron_variant MELA-AU 1 26620344 26620344 single base substitution G A downstream_gene_variant MELA-AU 1 26620344 26620344 single base substitution G A intron_variant MELA-AU 1 26620368 26620368 single base substitution G A downstream_gene_variant MELA-AU 1 26620368 26620368 single base substitution G A intron_variant MELA-AU 1 26620848 26620848 single base substitution G A downstream_gene_variant MELA-AU 1 26620848 26620848 single base substitution G A intron_variant MELA-AU 1 26621085 26621085 single base substitution G A downstream_gene_variant MELA-AU 1 26621085 26621085 single base substitution G A intron_variant MELA-AU 1 26622704 26622704 single base substitution G A downstream_gene_variant MELA-AU 1 26622704 26622704 single base substitution G A intron_variant MELA-AU 1 26622794 26622794 single base substitution C A downstream_gene_variant MELA-AU 1 26622794 26622794 single base substitution C A intron_variant MELA-AU 1 26622861 26622861 single base substitution G A downstream_gene_variant MELA-AU 1 26622861 26622861 single base substitution G A intron_variant MELA-AU 1 26622936 26622937 multiple base substitution (>=2bp and <=200bp) GT AA downstream_gene_variant MELA-AU 1 26622936 26622937 multiple base substitution (>=2bp and <=200bp) GT AA intron_variant MELA-AU 1 26623036 26623036 single base substitution G A downstream_gene_variant MELA-AU 1 26623036 26623036 single base substitution G A intron_variant MELA-AU 1 26623134 26623134 single base substitution T A downstream_gene_variant MELA-AU 1 26623134 26623134 single base substitution T A intron_variant MELA-AU 1 26623175 26623175 single base substitution G A downstream_gene_variant MELA-AU 1 26623175 26623175 single base substitution G A intron_variant MELA-AU 1 26623208 26623208 single base substitution G A downstream_gene_variant MELA-AU 1 26623208 26623208 single base substitution G A intron_variant MELA-AU 1 26623295 26623295 single base substitution G A downstream_gene_variant MELA-AU 1 26623295 26623295 single base substitution G A intron_variant MELA-AU 1 26623330 26623330 single base substitution G A downstream_gene_variant MELA-AU 1 26623330 26623330 single base substitution G A intron_variant MELA-AU 1 26623367 26623367 single base substitution G A downstream_gene_variant MELA-AU 1 26623367 26623367 single base substitution G A intron_variant MELA-AU 1 26623710 26623710 single base substitution G A intron_variant MELA-AU 1 26623863 26623863 single base substitution G A intron_variant MELA-AU 1 26623870 26623870 single base substitution G A intron_variant MELA-AU 1 26624542 26624542 single base substitution G A 5_prime_UTR_variant MELA-AU 1 26624542 26624542 single base substitution G A exon_variant MELA-AU 1 26624542 26624542 single base substitution G A intron_variant MELA-AU 1 26624542 26624542 single base substitution G A missense_variant H33Y 97C>T MELA-AU 1 26624542 26624542 single base substitution G A missense_variant H38Y 112C>T MELA-AU 1 26624542 26624542 single base substitution G A missense_variant H71Y 211C>T MELA-AU 1 26624542 26624542 single base substitution G A upstream_gene_variant MELA-AU 1 26624614 26624614 single base substitution G A intron_variant MELA-AU 1 26624614 26624614 single base substitution G A upstream_gene_variant MELA-AU 1 26624761 26624761 single base substitution G A intron_variant MELA-AU 1 26624761 26624761 single base substitution G A upstream_gene_variant MELA-AU 1 26625176 26625176 single base substitution G A intron_variant MELA-AU 1 26625176 26625176 single base substitution G A upstream_gene_variant MELA-AU 1 26625195 26625195 single base substitution G A intron_variant MELA-AU 1 26625195 26625195 single base substitution G A upstream_gene_variant MELA-AU 1 26625576 26625576 single base substitution G A intron_variant MELA-AU 1 26625576 26625576 single base substitution G A upstream_gene_variant MELA-AU 1 26625696 26625696 single base substitution G A intron_variant MELA-AU 1 26625696 26625696 single base substitution G A upstream_gene_variant MELA-AU 1 26626841 26626841 single base substitution A T intron_variant MELA-AU 1 26626841 26626841 single base substitution A T upstream_gene_variant MELA-AU 1 26627038 26627038 single base substitution G A intron_variant MELA-AU 1 26627038 26627038 single base substitution G A upstream_gene_variant MELA-AU 1 26627190 26627190 single base substitution G A intron_variant MELA-AU 1 26627190 26627190 single base substitution G A upstream_gene_variant MELA-AU 1 26627387 26627387 single base substitution G A intron_variant MELA-AU 1 26627387 26627387 single base substitution G A upstream_gene_variant MELA-AU 1 26627630 26627630 single base substitution G A intron_variant MELA-AU 1 26627630 26627630 single base substitution G A upstream_gene_variant MELA-AU 1 26627675 26627675 single base substitution G A intron_variant MELA-AU 1 26627675 26627675 single base substitution G A upstream_gene_variant MELA-AU 1 26627840 26627840 single base substitution G A intron_variant MELA-AU 1 26627840 26627840 single base substitution G A upstream_gene_variant MELA-AU 1 26628034 26628034 single base substitution G A intron_variant MELA-AU 1 26628034 26628034 single base substitution G A upstream_gene_variant MELA-AU 1 26629272 26629272 single base substitution G A intron_variant MELA-AU 1 26629272 26629272 single base substitution G A upstream_gene_variant MELA-AU 1 26629341 26629341 single base substitution G C 5_prime_UTR_variant MELA-AU 1 26629341 26629341 single base substitution G C exon_variant MELA-AU 1 26629341 26629341 single base substitution G C intron_variant MELA-AU 1 26629341 26629341 single base substitution G C missense_variant R12G 34C>G MELA-AU 1 26629341 26629341 single base substitution G C upstream_gene_variant MELA-AU 1 26629413 26629413 single base substitution G A 5_prime_UTR_variant MELA-AU 1 26629413 26629413 single base substitution G A intron_variant MELA-AU 1 26629413 26629413 single base substitution G A splice_region_variant MELA-AU 1 26629413 26629413 single base substitution G A upstream_gene_variant MELA-AU 1 26629891 26629891 single base substitution G A intron_variant MELA-AU 1 26629891 26629891 single base substitution G A upstream_gene_variant MELA-AU 1 26630450 26630450 single base substitution G A intron_variant MELA-AU 1 26630450 26630450 single base substitution G A upstream_gene_variant MELA-AU 1 26630573 26630573 single base substitution C T intron_variant MELA-AU 1 26630573 26630573 single base substitution C T upstream_gene_variant MELA-AU 1 26630765 26630765 single base substitution C T intron_variant MELA-AU 1 26630765 26630765 single base substitution C T upstream_gene_variant MELA-AU 1 26631065 26631065 single base substitution A G intron_variant MELA-AU 1 26631065 26631065 single base substitution A G upstream_gene_variant MELA-AU 1 26631143 26631143 single base substitution C T intron_variant MELA-AU 1 26631143 26631143 single base substitution C T upstream_gene_variant MELA-AU 1 26631415 26631415 single base substitution G A intron_variant MELA-AU 1 26631415 26631415 single base substitution G A upstream_gene_variant MELA-AU 1 26631755 26631755 single base substitution C T intron_variant MELA-AU 1 26631755 26631755 single base substitution C T upstream_gene_variant MELA-AU 1 26632169 26632169 single base substitution G A intron_variant MELA-AU 1 26632169 26632169 single base substitution G A upstream_gene_variant MELA-AU 1 26632172 26632172 single base substitution A G intron_variant MELA-AU 1 26632172 26632172 single base substitution A G upstream_gene_variant MELA-AU 1 26632435 26632435 single base substitution C T intron_variant MELA-AU 1 26632435 26632435 single base substitution C T upstream_gene_variant MELA-AU 1 26633688 26633688 single base substitution C T intron_variant MELA-AU 1 26633688 26633688 single base substitution C T upstream_gene_variant MELA-AU 1 26634142 26634142 single base substitution C T intron_variant MELA-AU 1 26634142 26634142 single base substitution C T upstream_gene_variant MELA-AU 1 26634534 26634534 single base substitution G A intron_variant MELA-AU 1 26634534 26634534 single base substitution G A upstream_gene_variant MELA-AU 1 26634712 26634712 single base substitution C T intron_variant MELA-AU 1 26634712 26634712 single base substitution C T upstream_gene_variant MELA-AU 1 26635201 26635201 single base substitution G A intron_variant MELA-AU 1 26635201 26635201 single base substitution G A upstream_gene_variant MELA-AU 1 26635264 26635264 single base substitution G A intron_variant MELA-AU 1 26635264 26635264 single base substitution G A upstream_gene_variant MELA-AU 1 26635406 26635406 single base substitution C T intron_variant MELA-AU 1 26635406 26635406 single base substitution C T upstream_gene_variant MELA-AU 1 26635693 26635693 single base substitution G A intron_variant MELA-AU 1 26635693 26635693 single base substitution G A upstream_gene_variant MELA-AU 1 26635820 26635820 single base substitution C T intron_variant MELA-AU 1 26635820 26635820 single base substitution C T upstream_gene_variant MELA-AU 1 26636394 26636394 single base substitution C T intron_variant MELA-AU 1 26636394 26636394 single base substitution C T upstream_gene_variant MELA-AU 1 26636441 26636441 single base substitution C T intron_variant MELA-AU 1 26636441 26636441 single base substitution C T upstream_gene_variant MELA-AU 1 26636533 26636533 single base substitution C A intron_variant MELA-AU 1 26636533 26636533 single base substitution C A upstream_gene_variant MELA-AU 1 26636595 26636595 single base substitution A T intron_variant MELA-AU 1 26636595 26636595 single base substitution A T upstream_gene_variant MELA-AU 1 26636598 26636598 single base substitution G A intron_variant MELA-AU 1 26636598 26636598 single base substitution G A upstream_gene_variant MELA-AU 1 26636639 26636639 single base substitution C T intron_variant MELA-AU 1 26636639 26636639 single base substitution C T upstream_gene_variant MELA-AU 1 26636684 26636684 single base substitution G A intron_variant MELA-AU 1 26636684 26636684 single base substitution G A upstream_gene_variant MELA-AU 1 26636901 26636901 single base substitution C T intron_variant MELA-AU 1 26636901 26636901 single base substitution C T upstream_gene_variant MELA-AU 1 26637444 26637444 single base substitution G A intron_variant MELA-AU 1 26637444 26637444 single base substitution G A upstream_gene_variant MELA-AU 1 26637682 26637682 single base substitution G A intron_variant MELA-AU 1 26637682 26637682 single base substitution G A upstream_gene_variant MELA-AU 1 26637710 26637710 single base substitution A G intron_variant MELA-AU 1 26637710 26637710 single base substitution A G upstream_gene_variant MELA-AU 1 26637931 26637931 single base substitution G A intron_variant MELA-AU 1 26637931 26637931 single base substitution G A upstream_gene_variant MELA-AU 1 26638935 26638935 single base substitution G A intron_variant MELA-AU 1 26639114 26639114 single base substitution G A intron_variant MELA-AU 1 26639177 26639177 single base substitution G A intron_variant MELA-AU 1 26639670 26639670 single base substitution C T intron_variant MELA-AU 1 26640069 26640069 single base substitution T C intron_variant MELA-AU 1 26640182 26640182 single base substitution G A intron_variant MELA-AU 1 26640394 26640394 single base substitution C T intron_variant MELA-AU 1 26640540 26640540 single base substitution G A intron_variant MELA-AU 1 26640630 26640630 single base substitution G A intron_variant MELA-AU 1 26640848 26640848 single base substitution G A intron_variant MELA-AU 1 26641064 26641064 single base substitution G A intron_variant MELA-AU 1 26641292 26641292 single base substitution G A intron_variant MELA-AU 1 26641305 26641305 single base substitution C T intron_variant MELA-AU 1 26641317 26641317 single base substitution G A intron_variant MELA-AU 1 26641326 26641326 single base substitution C T intron_variant MELA-AU 1 26641567 26641567 single base substitution C T intron_variant MELA-AU 1 26641612 26641612 single base substitution G A intron_variant MELA-AU 1 26641944 26641944 single base substitution A G intron_variant MELA-AU 1 26641962 26641962 single base substitution C T intron_variant MELA-AU 1 26642396 26642396 single base substitution C T intron_variant MELA-AU 1 26642988 26642988 single base substitution G A intron_variant MELA-AU 1 26643314 26643314 single base substitution C T intron_variant MELA-AU 1 26643373 26643373 single base substitution C T intron_variant MELA-AU 1 26643504 26643504 single base substitution G A intron_variant MELA-AU 1 26643587 26643588 multiple base substitution (>=2bp and <=200bp) CC TT intron_variant MELA-AU 1 26644049 26644049 single base substitution G A intron_variant MELA-AU 1 26644283 26644283 insertion of <=200bp - C intron_variant MELA-AU 1 26644911 26644911 single base substitution G A upstream_gene_variant MELA-AU 1 26644941 26644941 single base substitution G T upstream_gene_variant MELA-AU 1 26645002 26645002 single base substitution C T upstream_gene_variant MELA-AU 1 26645004 26645004 single base substitution C T upstream_gene_variant MELA-AU 1 26645160 26645160 single base substitution C A upstream_gene_variant MELA-AU 1 26645373 26645373 single base substitution A G upstream_gene_variant MELA-AU 1 26645427 26645427 single base substitution C T upstream_gene_variant MELA-AU 1 26645589 26645589 single base substitution C T upstream_gene_variant MELA-AU 1 26646068 26646068 single base substitution C T upstream_gene_variant MELA-AU 1 26646082 26646082 single base substitution G A upstream_gene_variant MELA-AU 1 26646187 26646187 single base substitution C T upstream_gene_variant MELA-AU 1 26646388 26646388 single base substitution G A upstream_gene_variant MELA-AU 1 26646463 26646463 single base substitution T C upstream_gene_variant MELA-AU 1 26646519 26646519 single base substitution G A upstream_gene_variant MELA-AU 1 26646584 26646584 single base substitution C T upstream_gene_variant MELA-AU 1 26646810 26646810 single base substitution C T upstream_gene_variant MELA-AU 1 26646856 26646856 single base substitution G A upstream_gene_variant MELA-AU 1 26647432 26647432 single base substitution G A upstream_gene_variant MELA-AU 1 26647579 26647580 multiple base substitution (>=2bp and <=200bp) CC TT upstream_gene_variant MELA-AU 1 26647608 26647608 single base substitution C T upstream_gene_variant MELA-AU 1 26647637 26647637 single base substitution G A upstream_gene_variant MELA-AU 1 26647644 26647644 single base substitution G A upstream_gene_variant MELA-AU 1 26647651 26647651 single base substitution C T upstream_gene_variant MELA-AU 1 26648137 26648137 single base substitution C T upstream_gene_variant MELA-AU 1 26648650 26648650 single base substitution C T upstream_gene_variant MELA-AU 1 26648801 26648801 single base substitution A T upstream_gene_variant MELA-AU 1 26648851 26648851 single base substitution C T upstream_gene_variant MELA-AU 1 26648970 26648970 single base substitution G A upstream_gene_variant MELA-AU 1 26649075 26649075 single base substitution C T upstream_gene_variant MELA-AU 1 26649340 26649340 single base substitution C T upstream_gene_variant MELA-AU 1 26649377 26649377 single base substitution C T upstream_gene_variant MELA-AU 1 26649443 26649443 single base substitution T C upstream_gene_variant MELA-AU 1 26649665 26649665 single base substitution G A upstream_gene_variant MELA-AU 1 26649683 26649683 single base substitution C T upstream_gene_variant MELA-AU 1 26649690 26649690 single base substitution G A upstream_gene_variant ORCA-IN 1 26608862 26608862 single base substitution G A downstream_gene_variant ORCA-IN 1 26608862 26608862 single base substitution G A exon_variant ORCA-IN 1 26608862 26608862 single base substitution G A synonymous_variant P254P 762C>T ORCA-IN 1 26608862 26608862 single base substitution G A synonymous_variant P377P 1131C>T ORCA-IN 1 26608862 26608862 single base substitution G A synonymous_variant P464P 1392C>T ORCA-IN 1 26608862 26608862 single base substitution G A synonymous_variant P497P 1491C>T ORCA-IN 1 26614283 26614283 single base substitution C T intron_variant ORCA-IN 1 26626017 26626017 deletion of <=200bp C - intron_variant ORCA-IN 1 26626017 26626017 deletion of <=200bp C - upstream_gene_variant ORCA-IN 1 26632928 26632928 single base substitution G A 5_prime_UTR_variant ORCA-IN 1 26632928 26632928 single base substitution G A intron_variant ORCA-IN 1 26632928 26632928 single base substitution G A upstream_gene_variant ORCA-IN 1 26646669 26646669 single base substitution C A upstream_gene_variant OV-AU 1 26606458 26606458 single base substitution G T downstream_gene_variant OV-AU 1 26606594 26606594 single base substitution C T downstream_gene_variant OV-AU 1 26606806 26606806 single base substitution C T downstream_gene_variant OV-AU 1 26612602 26612602 single base substitution C T intron_variant OV-AU 1 26614240 26614240 single base substitution C A intron_variant OV-AU 1 26616597 26616597 single base substitution T C downstream_gene_variant OV-AU 1 26616597 26616597 single base substitution T C intron_variant OV-AU 1 26617622 26617622 single base substitution A C downstream_gene_variant OV-AU 1 26617622 26617622 single base substitution A C intron_variant OV-AU 1 26618431 26618431 single base substitution G A downstream_gene_variant OV-AU 1 26618431 26618431 single base substitution G A intron_variant OV-AU 1 26622879 26622879 single base substitution G C downstream_gene_variant OV-AU 1 26622879 26622879 single base substitution G C intron_variant OV-AU 1 26632740 26632740 single base substitution A C intron_variant OV-AU 1 26632740 26632740 single base substitution A C upstream_gene_variant OV-AU 1 26634102 26634102 single base substitution T G intron_variant OV-AU 1 26634102 26634102 single base substitution T G upstream_gene_variant OV-AU 1 26639528 26639528 single base substitution G A intron_variant OV-AU 1 26640559 26640559 single base substitution C T intron_variant OV-AU 1 26641225 26641225 single base substitution G C intron_variant PACA-AU 1 26606352 26606352 single base substitution C A downstream_gene_variant PACA-AU 1 26607283 26607283 single base substitution C T downstream_gene_variant PACA-AU 1 26607810 26607810 single base substitution T G downstream_gene_variant PACA-AU 1 26614889 26614889 single base substitution C A intron_variant PACA-AU 1 26617710 26617710 single base substitution C T downstream_gene_variant PACA-AU 1 26617710 26617710 single base substitution C T intron_variant PACA-AU 1 26620712 26620712 single base substitution C A downstream_gene_variant PACA-AU 1 26620712 26620712 single base substitution C A exon_variant PACA-AU 1 26620712 26620712 single base substitution C A intron_variant PACA-AU 1 26620712 26620712 single base substitution C A missense_variant K106N 318G>T PACA-AU 1 26620712 26620712 single base substitution C A missense_variant K143N 429G>T PACA-AU 1 26620712 26620712 single base substitution C A missense_variant K148N 444G>T PACA-AU 1 26620712 26620712 single base substitution C A missense_variant K181N 543G>T PACA-AU 1 26620712 26620712 single base substitution C A missense_variant K23N 69G>T PACA-AU 1 26623660 26623660 single base substitution A T intron_variant PACA-AU 1 26624608 26624608 deletion of <=200bp G - intron_variant PACA-AU 1 26624608 26624608 deletion of <=200bp G - upstream_gene_variant PACA-AU 1 26625098 26625098 single base substitution C A intron_variant PACA-AU 1 26625098 26625098 single base substitution C A upstream_gene_variant PACA-AU 1 26635978 26635978 single base substitution C A intron_variant PACA-AU 1 26635978 26635978 single base substitution C A upstream_gene_variant PACA-CA 1 26604864 26604864 single base substitution G A downstream_gene_variant PACA-CA 1 26609542 26609542 single base substitution G A downstream_gene_variant PACA-CA 1 26609542 26609542 single base substitution G A intron_variant PACA-CA 1 26609573 26609573 single base substitution G A downstream_gene_variant PACA-CA 1 26609573 26609573 single base substitution G A intron_variant PACA-CA 1 26611474 26611476 deletion of <=200bp CCA - downstream_gene_variant PACA-CA 1 26611474 26611476 deletion of <=200bp CCA - exon_variant PACA-CA 1 26611474 26611476 deletion of <=200bp CCA - intron_variant PACA-CA 1 26615624 26615624 single base substitution G A intron_variant PACA-CA 1 26622263 26622263 single base substitution C T downstream_gene_variant PACA-CA 1 26622263 26622263 single base substitution C T intron_variant PACA-CA 1 26624420 26624420 single base substitution C T intron_variant PACA-CA 1 26627552 26627552 single base substitution G A intron_variant PACA-CA 1 26627552 26627552 single base substitution G A splice_region_variant PACA-CA 1 26627552 26627552 single base substitution G A upstream_gene_variant PACA-CA 1 26629856 26629856 single base substitution G A intron_variant PACA-CA 1 26629856 26629856 single base substitution G A upstream_gene_variant PACA-CA 1 26631459 26631459 deletion of <=200bp T - intron_variant PACA-CA 1 26631459 26631459 deletion of <=200bp T - upstream_gene_variant PACA-CA 1 26632434 26632434 single base substitution T C intron_variant PACA-CA 1 26632434 26632434 single base substitution T C upstream_gene_variant PACA-CA 1 26632882 26632882 deletion of <=200bp G - 5_prime_UTR_variant PACA-CA 1 26632882 26632882 deletion of <=200bp G - intron_variant PACA-CA 1 26632882 26632882 deletion of <=200bp G - upstream_gene_variant PACA-CA 1 26632885 26632902 deletion of <=200bp CGCGCTCAGGGAGCGACG - 5_prime_UTR_variant PACA-CA 1 26632885 26632902 deletion of <=200bp CGCGCTCAGGGAGCGACG - intron_variant PACA-CA 1 26632885 26632902 deletion of <=200bp CGCGCTCAGGGAGCGACG - upstream_gene_variant PACA-CA 1 26635421 26635421 single base substitution G A intron_variant PACA-CA 1 26635421 26635421 single base substitution G A upstream_gene_variant PACA-CA 1 26636043 26636043 insertion of <=200bp - A intron_variant PACA-CA 1 26636043 26636043 insertion of <=200bp - A upstream_gene_variant PACA-CA 1 26636981 26636981 single base substitution G A intron_variant PACA-CA 1 26636981 26636981 single base substitution G A upstream_gene_variant PACA-CA 1 26637264 26637264 insertion of <=200bp - A intron_variant PACA-CA 1 26637264 26637264 insertion of <=200bp - A upstream_gene_variant PACA-CA 1 26638160 26638160 single base substitution C T intron_variant PACA-CA 1 26638160 26638160 single base substitution C T upstream_gene_variant PACA-CA 1 26639044 26639044 deletion of <=200bp A - intron_variant PACA-CA 1 26640397 26640397 single base substitution G A intron_variant PACA-CA 1 26645823 26645823 single base substitution C T upstream_gene_variant PACA-CA 1 26645978 26645978 single base substitution G A upstream_gene_variant PAEN-IT 1 26629926 26629926 single base substitution C A intron_variant PAEN-IT 1 26629926 26629926 single base substitution C A upstream_gene_variant PBCA-DE 1 26608885 26608885 single base substitution C T downstream_gene_variant PBCA-DE 1 26608885 26608885 single base substitution C T exon_variant PBCA-DE 1 26608885 26608885 single base substitution C T missense_variant G247S 739G>A PBCA-DE 1 26608885 26608885 single base substitution C T missense_variant G370S 1108G>A PBCA-DE 1 26608885 26608885 single base substitution C T missense_variant G457S 1369G>A PBCA-DE 1 26608885 26608885 single base substitution C T missense_variant G490S 1468G>A PBCA-DE 1 26610658 26610658 single base substitution C T downstream_gene_variant PBCA-DE 1 26610658 26610658 single base substitution C T exon_variant PBCA-DE 1 26610658 26610658 single base substitution C T missense_variant R108Q 323G>A PBCA-DE 1 26610658 26610658 single base substitution C T missense_variant R231Q 692G>A PBCA-DE 1 26610658 26610658 single base substitution C T missense_variant R318Q 953G>A PBCA-DE 1 26610658 26610658 single base substitution C T missense_variant R351Q 1052G>A PBCA-DE 1 26620786 26620786 single base substitution C A 5_prime_UTR_variant PBCA-DE 1 26620786 26620786 single base substitution C A downstream_gene_variant PBCA-DE 1 26620786 26620786 single base substitution C A exon_variant PBCA-DE 1 26620786 26620786 single base substitution C A intron_variant PBCA-DE 1 26620786 26620786 single base substitution C A stop_gained E119* 355G>T PBCA-DE 1 26620786 26620786 single base substitution C A stop_gained E124* 370G>T PBCA-DE 1 26620786 26620786 single base substitution C A stop_gained E157* 469G>T PBCA-DE 1 26620786 26620786 single base substitution C A stop_gained E82* 244G>T PBCA-DE 1 26622394 26622394 single base substitution C T downstream_gene_variant PBCA-DE 1 26622394 26622394 single base substitution C T intron_variant PBCA-DE 1 26624352 26624352 single base substitution C T intron_variant PBCA-DE 1 26630628 26630628 single base substitution C A intron_variant PBCA-DE 1 26630628 26630628 single base substitution C A upstream_gene_variant PBCA-DE 1 26632169 26632169 single base substitution G A intron_variant PBCA-DE 1 26632169 26632169 single base substitution G A upstream_gene_variant PBCA-DE 1 26632172 26632172 single base substitution A G intron_variant PBCA-DE 1 26632172 26632172 single base substitution A G upstream_gene_variant PBCA-DE 1 26634372 26634372 single base substitution C T intron_variant PBCA-DE 1 26634372 26634372 single base substitution C T upstream_gene_variant PBCA-DE 1 26636042 26636042 single base substitution T A intron_variant PBCA-DE 1 26636042 26636042 single base substitution T A upstream_gene_variant PRAD-CA 1 26608885 26608885 single base substitution C T downstream_gene_variant PRAD-CA 1 26608885 26608885 single base substitution C T exon_variant PRAD-CA 1 26608885 26608885 single base substitution C T missense_variant G247S 739G>A PRAD-CA 1 26608885 26608885 single base substitution C T missense_variant G370S 1108G>A PRAD-CA 1 26608885 26608885 single base substitution C T missense_variant G457S 1369G>A PRAD-CA 1 26608885 26608885 single base substitution C T missense_variant G490S 1468G>A PRAD-CA 1 26609506 26609506 single base substitution C T downstream_gene_variant PRAD-CA 1 26609506 26609506 single base substitution C T intron_variant PRAD-UK 1 26603033 26603033 single base substitution T C downstream_gene_variant PRAD-UK 1 26607439 26607439 single base substitution C T downstream_gene_variant PRAD-UK 1 26607861 26607861 single base substitution G A 3_prime_UTR_variant PRAD-UK 1 26607861 26607861 single base substitution G A downstream_gene_variant PRAD-UK 1 26607862 26607862 single base substitution C A 3_prime_UTR_variant PRAD-UK 1 26607862 26607862 single base substitution C A downstream_gene_variant PRAD-UK 1 26619798 26619798 deletion of <=200bp T - downstream_gene_variant PRAD-UK 1 26619798 26619798 deletion of <=200bp T - intron_variant PRAD-UK 1 26619798 26619798 single base substitution T G downstream_gene_variant PRAD-UK 1 26619798 26619798 single base substitution T G intron_variant PRAD-US 1 26608820 26608843 deletion of <=200bp GGGACTGGGGCCGGGACCGGGACC - downstream_gene_variant PRAD-US 1 26608820 26608843 deletion of <=200bp GGGACTGGGGCCGGGACCGGGACC - exon_variant PRAD-US 1 26608820 26608843 deletion of <=200bp GGGACTGGGGCCGGGACCGGGACC - inframe_deletion GPGPGPSP261 PRAD-US 1 26608820 26608843 deletion of <=200bp GGGACTGGGGCCGGGACCGGGACC - inframe_deletion GPGPGPSP384 PRAD-US 1 26608820 26608843 deletion of <=200bp GGGACTGGGGCCGGGACCGGGACC - inframe_deletion GPGPGPSP471 PRAD-US 1 26608820 26608843 deletion of <=200bp GGGACTGGGGCCGGGACCGGGACC - inframe_deletion GPGPGPSP504 READ-US 1 26608828 26608828 single base substitution G A downstream_gene_variant READ-US 1 26608828 26608828 single base substitution G A exon_variant READ-US 1 26608828 26608828 single base substitution G A missense_variant P266S 796C>T READ-US 1 26608828 26608828 single base substitution G A missense_variant P389S 1165C>T READ-US 1 26608828 26608828 single base substitution G A missense_variant P476S 1426C>T READ-US 1 26608828 26608828 single base substitution G A missense_variant P509S 1525C>T READ-US 1 26608843 26608843 insertion of <=200bp - GGGACA downstream_gene_variant READ-US 1 26608843 26608843 insertion of <=200bp - GGGACA exon_variant READ-US 1 26608843 26608843 insertion of <=200bp - GGGACA inframe_insertion G261VSR READ-US 1 26608843 26608843 insertion of <=200bp - GGGACA inframe_insertion G384VSR READ-US 1 26608843 26608843 insertion of <=200bp - GGGACA inframe_insertion G471VSR READ-US 1 26608843 26608843 insertion of <=200bp - GGGACA inframe_insertion G504VSR RECA-EU 1 26615550 26615550 single base substitution T G intron_variant RECA-EU 1 26615855 26615855 single base substitution G T downstream_gene_variant RECA-EU 1 26615855 26615855 single base substitution G T intron_variant RECA-EU 1 26621241 26621241 single base substitution T G downstream_gene_variant RECA-EU 1 26621241 26621241 single base substitution T G intron_variant RECA-EU 1 26622401 26622401 single base substitution G A downstream_gene_variant RECA-EU 1 26622401 26622401 single base substitution G A intron_variant RECA-EU 1 26623928 26623928 single base substitution C G 5_prime_UTR_variant RECA-EU 1 26623928 26623928 single base substitution C G exon_variant RECA-EU 1 26623928 26623928 single base substitution C G intron_variant RECA-EU 1 26623928 26623928 single base substitution C G synonymous_variant R115R 345G>C RECA-EU 1 26623928 26623928 single base substitution C G synonymous_variant R40R 120G>C RECA-EU 1 26623928 26623928 single base substitution C G synonymous_variant R77R 231G>C RECA-EU 1 26623928 26623928 single base substitution C G synonymous_variant R82R 246G>C RECA-EU 1 26638950 26638950 single base substitution C T intron_variant RECA-EU 1 26641310 26641310 single base substitution G C intron_variant SKCA-BR 1 26606483 26606483 single base substitution T C downstream_gene_variant SKCA-BR 1 26608298 26608298 single base substitution C T 3_prime_UTR_variant SKCA-BR 1 26608298 26608298 single base substitution C T downstream_gene_variant SKCA-BR 1 26608811 26608835 deletion of <=200bp TCCAGGACAGGGACTGGGGCCGGGA - downstream_gene_variant SKCA-BR 1 26608811 26608835 deletion of <=200bp TCCAGGACAGGGACTGGGGCCGGGA - exon_variant SKCA-BR 1 26608811 26608835 deletion of <=200bp TCCAGGACAGGGACTGGGGCCGGGA - frameshift_variant GPGPSPCPG263 SKCA-BR 1 26608811 26608835 deletion of <=200bp TCCAGGACAGGGACTGGGGCCGGGA - frameshift_variant GPGPSPCPG386 SKCA-BR 1 26608811 26608835 deletion of <=200bp TCCAGGACAGGGACTGGGGCCGGGA - frameshift_variant GPGPSPCPG473 SKCA-BR 1 26608811 26608835 deletion of <=200bp TCCAGGACAGGGACTGGGGCCGGGA - frameshift_variant GPGPSPCPG506 SKCA-BR 1 26608828 26608828 single base substitution G A downstream_gene_variant SKCA-BR 1 26608828 26608828 single base substitution G A exon_variant SKCA-BR 1 26608828 26608828 single base substitution G A missense_variant P266S 796C>T SKCA-BR 1 26608828 26608828 single base substitution G A missense_variant P389S 1165C>T SKCA-BR 1 26608828 26608828 single base substitution G A missense_variant P476S 1426C>T SKCA-BR 1 26608828 26608828 single base substitution G A missense_variant P509S 1525C>T SKCA-BR 1 26608852 26608852 single base substitution G A downstream_gene_variant SKCA-BR 1 26608852 26608852 single base substitution G A exon_variant SKCA-BR 1 26608852 26608852 single base substitution G A missense_variant P258S 772C>T SKCA-BR 1 26608852 26608852 single base substitution G A missense_variant P381S 1141C>T SKCA-BR 1 26608852 26608852 single base substitution G A missense_variant P468S 1402C>T SKCA-BR 1 26608852 26608852 single base substitution G A missense_variant P501S 1501C>T SKCA-BR 1 26609014 26609014 single base substitution T G downstream_gene_variant SKCA-BR 1 26609014 26609014 single base substitution T G exon_variant SKCA-BR 1 26609014 26609014 single base substitution T G missense_variant T204P 610A>C SKCA-BR 1 26609014 26609014 single base substitution T G missense_variant T327P 979A>C SKCA-BR 1 26609014 26609014 single base substitution T G missense_variant T414P 1240A>C SKCA-BR 1 26609014 26609014 single base substitution T G missense_variant T447P 1339A>C SKCA-BR 1 26609555 26609555 single base substitution C T downstream_gene_variant SKCA-BR 1 26609555 26609555 single base substitution C T intron_variant SKCA-BR 1 26609637 26609637 single base substitution C G downstream_gene_variant SKCA-BR 1 26609637 26609637 single base substitution C G intron_variant SKCA-BR 1 26616038 26616038 single base substitution G A downstream_gene_variant SKCA-BR 1 26616038 26616038 single base substitution G A intron_variant SKCA-BR 1 26616044 26616044 single base substitution T G downstream_gene_variant SKCA-BR 1 26616044 26616044 single base substitution T G intron_variant SKCA-BR 1 26616520 26616520 single base substitution G A downstream_gene_variant SKCA-BR 1 26616520 26616520 single base substitution G A intron_variant SKCA-BR 1 26619133 26619133 single base substitution T G downstream_gene_variant SKCA-BR 1 26619133 26619133 single base substitution T G intron_variant SKCA-BR 1 26622301 26622301 single base substitution A G downstream_gene_variant SKCA-BR 1 26622301 26622301 single base substitution A G intron_variant SKCA-BR 1 26622819 26622819 single base substitution G A downstream_gene_variant SKCA-BR 1 26622819 26622819 single base substitution G A intron_variant SKCA-BR 1 26623423 26623423 single base substitution A C 5_prime_UTR_variant SKCA-BR 1 26623423 26623423 single base substitution A C downstream_gene_variant SKCA-BR 1 26623423 26623423 single base substitution A C exon_variant SKCA-BR 1 26623423 26623423 single base substitution A C intron_variant SKCA-BR 1 26623423 26623423 single base substitution A C missense_variant V102G 305T>G SKCA-BR 1 26623423 26623423 single base substitution A C missense_variant V107G 320T>G SKCA-BR 1 26623423 26623423 single base substitution A C missense_variant V140G 419T>G SKCA-BR 1 26623423 26623423 single base substitution A C missense_variant V65G 194T>G SKCA-BR 1 26626265 26626265 single base substitution A G intron_variant SKCA-BR 1 26626265 26626265 single base substitution A G upstream_gene_variant SKCA-BR 1 26627836 26627836 single base substitution G A intron_variant SKCA-BR 1 26627836 26627836 single base substitution G A upstream_gene_variant SKCA-BR 1 26628638 26628638 single base substitution G A intron_variant SKCA-BR 1 26628638 26628638 single base substitution G A upstream_gene_variant SKCA-BR 1 26636602 26636602 single base substitution G A intron_variant SKCA-BR 1 26636602 26636602 single base substitution G A upstream_gene_variant SKCA-BR 1 26637029 26637029 insertion of <=200bp - CAAA intron_variant SKCA-BR 1 26637029 26637029 insertion of <=200bp - CAAA upstream_gene_variant SKCA-BR 1 26637631 26637631 insertion of <=200bp - CT intron_variant SKCA-BR 1 26637631 26637631 insertion of <=200bp - CT upstream_gene_variant SKCA-BR 1 26637862 26637862 single base substitution A C intron_variant SKCA-BR 1 26637862 26637862 single base substitution A C upstream_gene_variant SKCA-BR 1 26639830 26639830 single base substitution C T intron_variant SKCA-BR 1 26642947 26642947 single base substitution A G intron_variant SKCA-BR 1 26643264 26643264 single base substitution T C intron_variant SKCA-BR 1 26644168 26644168 single base substitution G A intron_variant SKCA-BR 1 26644202 26644202 single base substitution G A intron_variant SKCA-BR 1 26645831 26645831 single base substitution G A upstream_gene_variant SKCA-BR 1 26648902 26648902 single base substitution C T upstream_gene_variant SKCM-US 1 26603073 26603073 single base substitution G A downstream_gene_variant SKCM-US 1 26607282 26607282 single base substitution C T downstream_gene_variant SKCM-US 1 26607295 26607295 single base substitution G A downstream_gene_variant SKCM-US 1 26608820 26608843 deletion of <=200bp GGGACTGGGGCCGGGACCGGGACC - downstream_gene_variant SKCM-US 1 26608820 26608843 deletion of <=200bp GGGACTGGGGCCGGGACCGGGACC - exon_variant SKCM-US 1 26608820 26608843 deletion of <=200bp GGGACTGGGGCCGGGACCGGGACC - inframe_deletion GPGPGPSP261 SKCM-US 1 26608820 26608843 deletion of <=200bp GGGACTGGGGCCGGGACCGGGACC - inframe_deletion GPGPGPSP384 SKCM-US 1 26608820 26608843 deletion of <=200bp GGGACTGGGGCCGGGACCGGGACC - inframe_deletion GPGPGPSP471 SKCM-US 1 26608820 26608843 deletion of <=200bp GGGACTGGGGCCGGGACCGGGACC - inframe_deletion GPGPGPSP504 SKCM-US 1 26608878 26608883 deletion of <=200bp CCGGGA - disruptive_inframe_deletion GPG247G SKCM-US 1 26608878 26608883 deletion of <=200bp CCGGGA - disruptive_inframe_deletion GPG370G SKCM-US 1 26608878 26608883 deletion of <=200bp CCGGGA - disruptive_inframe_deletion GPG457G SKCM-US 1 26608878 26608883 deletion of <=200bp CCGGGA - disruptive_inframe_deletion GPG490G SKCM-US 1 26608878 26608883 deletion of <=200bp CCGGGA - downstream_gene_variant SKCM-US 1 26608878 26608883 deletion of <=200bp CCGGGA - exon_variant SKCM-US 1 26610879 26610879 single base substitution G A downstream_gene_variant SKCM-US 1 26610879 26610879 single base substitution G A exon_variant SKCM-US 1 26610879 26610879 single base substitution G A missense_variant A196V 587C>T SKCM-US 1 26610879 26610879 single base substitution G A missense_variant A283V 848C>T SKCM-US 1 26610879 26610879 single base substitution G A missense_variant A316V 947C>T SKCM-US 1 26610879 26610879 single base substitution G A missense_variant A73V 218C>T SKCM-US 1 26620703 26620703 single base substitution C T downstream_gene_variant SKCM-US 1 26620703 26620703 single base substitution C T exon_variant SKCM-US 1 26620703 26620703 single base substitution C T intron_variant SKCM-US 1 26620703 26620703 single base substitution C T stop_gained W109* 327G>A SKCM-US 1 26620703 26620703 single base substitution C T stop_gained W146* 438G>A SKCM-US 1 26620703 26620703 single base substitution C T stop_gained W151* 453G>A SKCM-US 1 26620703 26620703 single base substitution C T stop_gained W184* 552G>A SKCM-US 1 26620703 26620703 single base substitution C T stop_gained W26* 78G>A SKCM-US 1 26620706 26620706 single base substitution G A downstream_gene_variant SKCM-US 1 26620706 26620706 single base substitution G A exon_variant SKCM-US 1 26620706 26620706 single base substitution G A intron_variant SKCM-US 1 26620706 26620706 single base substitution G A synonymous_variant F108F 324C>T SKCM-US 1 26620706 26620706 single base substitution G A synonymous_variant F145F 435C>T SKCM-US 1 26620706 26620706 single base substitution G A synonymous_variant F150F 450C>T SKCM-US 1 26620706 26620706 single base substitution G A synonymous_variant F183F 549C>T SKCM-US 1 26620706 26620706 single base substitution G A synonymous_variant F25F 75C>T SKCM-US 1 26620710 26620710 single base substitution T C downstream_gene_variant SKCM-US 1 26620710 26620710 single base substitution T C exon_variant SKCM-US 1 26620710 26620710 single base substitution T C intron_variant SKCM-US 1 26620710 26620710 single base substitution T C missense_variant K107R 320A>G SKCM-US 1 26620710 26620710 single base substitution T C missense_variant K144R 431A>G SKCM-US 1 26620710 26620710 single base substitution T C missense_variant K149R 446A>G SKCM-US 1 26620710 26620710 single base substitution T C missense_variant K182R 545A>G SKCM-US 1 26620710 26620710 single base substitution T C missense_variant K24R 71A>G SKCM-US 1 26620817 26620817 single base substitution G A 5_prime_UTR_variant SKCM-US 1 26620817 26620817 single base substitution G A downstream_gene_variant SKCM-US 1 26620817 26620817 single base substitution G A exon_variant SKCM-US 1 26620817 26620817 single base substitution G A intron_variant SKCM-US 1 26620817 26620817 single base substitution G A synonymous_variant F108F 324C>T SKCM-US 1 26620817 26620817 single base substitution G A synonymous_variant F113F 339C>T SKCM-US 1 26620817 26620817 single base substitution G A synonymous_variant F146F 438C>T SKCM-US 1 26620817 26620817 single base substitution G A synonymous_variant F71F 213C>T SKCM-US 1 26627455 26627455 single base substitution G A exon_variant SKCM-US 1 26627455 26627455 single base substitution G A intron_variant SKCM-US 1 26627455 26627455 single base substitution G A missense_variant S16F 47C>T SKCM-US 1 26627455 26627455 single base substitution G A missense_variant S54F 161C>T SKCM-US 1 26627455 26627455 single base substitution G A upstream_gene_variant SKCM-US 1 26644527 26644527 single base substitution C T intron_variant STAD-US 1 26608854 26608859 deletion of <=200bp CCGGGA - disruptive_inframe_deletion GPG255G STAD-US 1 26608854 26608859 deletion of <=200bp CCGGGA - disruptive_inframe_deletion GPG378G STAD-US 1 26608854 26608859 deletion of <=200bp CCGGGA - disruptive_inframe_deletion GPG465G STAD-US 1 26608854 26608859 deletion of <=200bp CCGGGA - disruptive_inframe_deletion GPG498G STAD-US 1 26608854 26608859 deletion of <=200bp CCGGGA - downstream_gene_variant STAD-US 1 26608854 26608859 deletion of <=200bp CCGGGA - exon_variant STAD-US 1 26608997 26608997 single base substitution A G downstream_gene_variant STAD-US 1 26608997 26608997 single base substitution A G exon_variant STAD-US 1 26608997 26608997 single base substitution A G synonymous_variant D209D 627T>C STAD-US 1 26608997 26608997 single base substitution A G synonymous_variant D332D 996T>C STAD-US 1 26608997 26608997 single base substitution A G synonymous_variant D419D 1257T>C STAD-US 1 26608997 26608997 single base substitution A G synonymous_variant D452D 1356T>C STAD-US 1 26609150 26609150 single base substitution C T downstream_gene_variant STAD-US 1 26609150 26609150 single base substitution C T exon_variant STAD-US 1 26609150 26609150 single base substitution C T missense_variant A185T 553G>A STAD-US 1 26609150 26609150 single base substitution C T missense_variant A308T 922G>A STAD-US 1 26609150 26609150 single base substitution C T missense_variant A395T 1183G>A STAD-US 1 26609150 26609150 single base substitution C T missense_variant A428T 1282G>A STAD-US 1 26610635 26610635 single base substitution G T downstream_gene_variant STAD-US 1 26610635 26610635 single base substitution G T missense_variant Q116K 346C>A STAD-US 1 26610635 26610635 single base substitution G T missense_variant Q239K 715C>A STAD-US 1 26610635 26610635 single base substitution G T missense_variant Q326K 976C>A STAD-US 1 26610635 26610635 single base substitution G T missense_variant Q359K 1075C>A STAD-US 1 26610635 26610635 single base substitution G T splice_region_variant STAD-US 1 26612350 26612350 single base substitution G A downstream_gene_variant STAD-US 1 26612350 26612350 single base substitution G A exon_variant STAD-US 1 26612350 26612350 single base substitution G A synonymous_variant D126D 378C>T STAD-US 1 26612350 26612350 single base substitution G A synonymous_variant D171D 513C>T STAD-US 1 26612350 26612350 single base substitution G A synonymous_variant D208D 624C>T STAD-US 1 26612350 26612350 single base substitution G A synonymous_variant D213D 639C>T STAD-US 1 26612350 26612350 single base substitution G A synonymous_variant D246D 738C>T STAD-US 1 26612350 26612350 single base substitution G A synonymous_variant D3D 9C>T STAD-US 1 26612350 26612350 single base substitution G A synonymous_variant D88D 264C>T STAD-US 1 26646686 26646686 single base substitution A C upstream_gene_variant STAD-US 1 26646688 26646688 single base substitution C T upstream_gene_variant STAD-US 1 26648679 26648679 single base substitution C T upstream_gene_variant THCA-SA 1 26608828 26608828 single base substitution G A downstream_gene_variant THCA-SA 1 26608828 26608828 single base substitution G A exon_variant THCA-SA 1 26608828 26608828 single base substitution G A missense_variant P266S 796C>T THCA-SA 1 26608828 26608828 single base substitution G A missense_variant P389S 1165C>T THCA-SA 1 26608828 26608828 single base substitution G A missense_variant P476S 1426C>T THCA-SA 1 26608828 26608828 single base substitution G A missense_variant P509S 1525C>T THCA-SA 1 26608861 26608861 insertion of <=200bp - GGGAGA downstream_gene_variant THCA-SA 1 26608861 26608861 insertion of <=200bp - GGGAGA exon_variant THCA-SA 1 26608861 26608861 insertion of <=200bp - GGGAGA inframe_insertion G255VSR THCA-SA 1 26608861 26608861 insertion of <=200bp - GGGAGA inframe_insertion G378VSR THCA-SA 1 26608861 26608861 insertion of <=200bp - GGGAGA inframe_insertion G465VSR THCA-SA 1 26608861 26608861 insertion of <=200bp - GGGAGA inframe_insertion G498VSR THCA-SA 1 26644698 26644698 single base substitution C T 5_prime_UTR_variant THCA-SA 1 26648381 26648381 single base substitution C T upstream_gene_variant UCEC-US 1 26607301 26607301 single base substitution C T downstream_gene_variant UCEC-US 1 26607563 26607563 single base substitution C T downstream_gene_variant UCEC-US 1 26608854 26608883 deletion of <=200bp CCGGGACCGGGACCGGGACTGGGGCCGGGA - disruptive_inframe_deletion GPGPSPGPGPG247G UCEC-US 1 26608854 26608883 deletion of <=200bp CCGGGACCGGGACCGGGACTGGGGCCGGGA - disruptive_inframe_deletion GPGPSPGPGPG370G UCEC-US 1 26608854 26608883 deletion of <=200bp CCGGGACCGGGACCGGGACTGGGGCCGGGA - disruptive_inframe_deletion GPGPSPGPGPG457G UCEC-US 1 26608854 26608883 deletion of <=200bp CCGGGACCGGGACCGGGACTGGGGCCGGGA - disruptive_inframe_deletion GPGPSPGPGPG490G UCEC-US 1 26608854 26608883 deletion of <=200bp CCGGGACCGGGACCGGGACTGGGGCCGGGA - downstream_gene_variant UCEC-US 1 26608854 26608883 deletion of <=200bp CCGGGACCGGGACCGGGACTGGGGCCGGGA - exon_variant UCEC-US 1 26608889 26608889 single base substitution A T downstream_gene_variant UCEC-US 1 26608889 26608889 single base substitution A T exon_variant UCEC-US 1 26608889 26608889 single base substitution A T synonymous_variant G245G 735T>A UCEC-US 1 26608889 26608889 single base substitution A T synonymous_variant G368G 1104T>A UCEC-US 1 26608889 26608889 single base substitution A T synonymous_variant G455G 1365T>A UCEC-US 1 26608889 26608889 single base substitution A T synonymous_variant G488G 1464T>A UCEC-US 1 26609197 26609197 single base substitution A G downstream_gene_variant UCEC-US 1 26609197 26609197 single base substitution A G exon_variant UCEC-US 1 26609197 26609197 single base substitution A G missense_variant L169P 506T>C UCEC-US 1 26609197 26609197 single base substitution A G missense_variant L292P 875T>C UCEC-US 1 26609197 26609197 single base substitution A G missense_variant L379P 1136T>C UCEC-US 1 26609197 26609197 single base substitution A G missense_variant L412P 1235T>C UCEC-US 1 26609226 26609226 single base substitution C A downstream_gene_variant UCEC-US 1 26609226 26609226 single base substitution C A exon_variant UCEC-US 1 26609226 26609226 single base substitution C A missense_variant K159N 477G>T UCEC-US 1 26609226 26609226 single base substitution C A missense_variant K282N 846G>T UCEC-US 1 26609226 26609226 single base substitution C A missense_variant K369N 1107G>T UCEC-US 1 26609226 26609226 single base substitution C A missense_variant K402N 1206G>T UCEC-US 1 26609278 26609278 single base substitution C T downstream_gene_variant UCEC-US 1 26609278 26609278 single base substitution C T missense_variant S142N 425G>A UCEC-US 1 26609278 26609278 single base substitution C T missense_variant S265N 794G>A UCEC-US 1 26609278 26609278 single base substitution C T missense_variant S352N 1055G>A UCEC-US 1 26609278 26609278 single base substitution C T missense_variant S385N 1154G>A UCEC-US 1 26609278 26609278 single base substitution C T splice_region_variant UCEC-US 1 26610676 26610676 single base substitution C T downstream_gene_variant UCEC-US 1 26610676 26610676 single base substitution C T exon_variant UCEC-US 1 26610676 26610676 single base substitution C T missense_variant G102D 305G>A UCEC-US 1 26610676 26610676 single base substitution C T missense_variant G225D 674G>A UCEC-US 1 26610676 26610676 single base substitution C T missense_variant G312D 935G>A UCEC-US 1 26610676 26610676 single base substitution C T missense_variant G345D 1034G>A UCEC-US 1 26612419 26612419 single base substitution G A 5_prime_UTR_variant UCEC-US 1 26612419 26612419 single base substitution G A downstream_gene_variant UCEC-US 1 26612419 26612419 single base substitution G A exon_variant UCEC-US 1 26612419 26612419 single base substitution G A synonymous_variant G103G 309C>T UCEC-US 1 26612419 26612419 single base substitution G A synonymous_variant G148G 444C>T UCEC-US 1 26612419 26612419 single base substitution G A synonymous_variant G185G 555C>T UCEC-US 1 26612419 26612419 single base substitution G A synonymous_variant G190G 570C>T UCEC-US 1 26612419 26612419 single base substitution G A synonymous_variant G223G 669C>T UCEC-US 1 26612419 26612419 single base substitution G A synonymous_variant G65G 195C>T UCEC-US 1 26620710 26620710 single base substitution T G downstream_gene_variant UCEC-US 1 26620710 26620710 single base substitution T G exon_variant UCEC-US 1 26620710 26620710 single base substitution T G intron_variant UCEC-US 1 26620710 26620710 single base substitution T G missense_variant K107T 320A>C UCEC-US 1 26620710 26620710 single base substitution T G missense_variant K144T 431A>C UCEC-US 1 26620710 26620710 single base substitution T G missense_variant K149T 446A>C UCEC-US 1 26620710 26620710 single base substitution T G missense_variant K182T 545A>C UCEC-US 1 26620710 26620710 single base substitution T G missense_variant K24T 71A>C UCEC-US 1 26627422 26627422 single base substitution C T exon_variant UCEC-US 1 26627422 26627422 single base substitution C T intron_variant UCEC-US 1 26627422 26627422 single base substitution C T missense_variant R27Q 80G>A UCEC-US 1 26627422 26627422 single base substitution C T missense_variant R65Q 194G>A UCEC-US 1 26627422 26627422 single base substitution C T upstream_gene_variant UCEC-US 1 26629321 26629321 single base substitution C T 5_prime_UTR_variant UCEC-US 1 26629321 26629321 single base substitution C T exon_variant UCEC-US 1 26629321 26629321 single base substitution C T intron_variant UCEC-US 1 26629321 26629321 single base substitution C T synonymous_variant S18S 54G>A UCEC-US 1 26629321 26629321 single base substitution C T upstream_gene_variant UCEC-US 1 26648760 26648760 single base substitution C A upstream_gene_variant

Mutation - COSMIC Sample Name Mutation ID Mutation CDS Mutation AA Mutation Description Mutation Genome Position Mutation Strand RMS88_ COSM4143713 c.1498G>A p.G500S Substitution - Missense 1:26282364-26282364 - TCGA-AA-3712-01 COSM1602122 c.1480A>T p.S494C Substitution - Missense 1:26282382-26282382 - sysucc-936T COSM1602124 c.1474G>A p.G492S Substitution - Missense 1:26282388-26282388 - PTC-88C COSM1341324 c.1486G>T p.G496C Substitution - Missense 1:26282376-26282376 - T3225 COSM73189 c.1051C>T p.R351W Substitution - Missense 1:26284168-26284168 - SCC-25 COSM4591100 c.1522G>A p.G508S Substitution - Missense 1:26282340-26282340 - UM-SCC-47 COSM1602121 c.1510G>T p.G504C Substitution - Missense 1:26282352-26282352 - WSU-HN12 COSM4603022 c.1510_1511insTGTCCC p.G504>VSR Complex - insertion inframe 1:26282351-26282352 - TCGA-CW-5585-01 COSM464351 c.1292+2T>G p.? Unknown 1:26282647-26282647 - S02277 COSM5702074 c.1486_1487GG>TC p.G496S Substitution - Missense 1:26282375-26282376 - UD-SCC-2 COSM1602121 c.1510G>T p.G504C Substitution - Missense 1:26282352-26282352 - BN03T COSM1602124 c.1474G>A p.G492S Substitution - Missense 1:26282388-26282388 - PTC-54C COSM1341324 c.1486G>T p.G496C Substitution - Missense 1:26282376-26282376 - S02241 COSM5676702 c.1500C>T p.G500G Substitution - coding silent 1:26282362-26282362 - 93VU147T COSM1288806 c.1468G>A p.G490S Substitution - Missense 1:26282394-26282394 - UM-SCC-4 COSM1473806 c.1470_1475delTCCCGG p.G492_P493delGP Deletion - In frame 1:26282387-26282392 - UPCI:SCC090 COSM4143711 c.1539T>C p.P513P Substitution - coding silent 1:26282323-26282323 - Pat_58_A COSM5846213 c.43C>T p.P15S Substitution - Missense 1:26302841-26302841 - ORL-48 COSM1341324 c.1486G>T p.G496C Substitution - Missense 1:26282376-26282376 - CAL33 COSM1473806 c.1470_1475delTCCCGG p.G492_P493delGP Deletion - In frame 1:26282387-26282392 - CN-AML-08-T COSM3997451 c.138A>G p.S46S Substitution - coding silent 1:26300987-26300987 - SNU-175 COSM2235052 c.1401G>A p.L467L Substitution - coding silent 1:26282461-26282461 - TCGA-AA-3697-01 COSM3751123 c.1501C>T p.P501S Substitution - Missense 1:26282361-26282361 - UD-SCC-2 COSM1288806 c.1468G>A p.G490S Substitution - Missense 1:26282394-26282394 - RD COSM4236135 c.1498G>T p.G500C Substitution - Missense 1:26282364-26282364 - MDA-N COSM1667283 c.781C>T p.L261F Substitution - Missense 1:26285535-26285535 - UM-SCC-47 COSM3751123 c.1501C>T p.P501S Substitution - Missense 1:26282361-26282361 - UM-SCC-47 COSM1473806 c.1470_1475delTCCCGG p.G492_P493delGP Deletion - In frame 1:26282387-26282392 - sysucc-834T COSM1602122 c.1480A>T p.S494C Substitution - Missense 1:26282382-26282382 - UM-SCC-17B COSM1288806 c.1468G>A p.G490S Substitution - Missense 1:26282394-26282394 - RK035_C01 COSM1626989 c.727A>C p.M243L Substitution - Missense 1:26285870-26285870 - TCGA-A2-A0T5-01 COSM3804796 c.1129A>C p.T377P Substitution - Missense 1:26282886-26282886 - PTC-73C COSM3751122 c.1504A>T p.S502C Substitution - Missense 1:26282358-26282358 - CSCC-10-T COSM4504959 c.67C>T p.P23S Substitution - Missense 1:26302817-26302817 - NB-0232 COSM1288806 c.1468G>A p.G490S Substitution - Missense 1:26282394-26282394 - UM-SCC-11B COSM1602121 c.1510G>T p.G504C Substitution - Missense 1:26282352-26282352 - sysucc-773T COSM1602121 c.1510G>T p.G504C Substitution - Missense 1:26282352-26282352 - TCGA-D9-A6EC-06 COSM4404723 c.545A>G p.K182R Substitution - Missense 1:26294219-26294219 - WA3 COSM242160 c.191G>T p.S64I Substitution - Missense 1:26300934-26300934 - CHC205T COSM3746913 c.628C>T p.L210L Substitution - coding silent 1:26285969-26285969 - UM-SCC-17B COSM3751123 c.1501C>T p.P501S Substitution - Missense 1:26282361-26282361 - BK0027 COSM4186581 c.268G>C p.V90L Substitution - Missense 1:26297994-26297994 - BICR_22 COSM4603022 c.1510_1511insTGTCCC p.G504>VSR Complex - insertion inframe 1:26282351-26282352 - UM-SCC-47 COSM1602122 c.1480A>T p.S494C Substitution - Missense 1:26282382-26282382 - TCGA-D7-A4YV-01 COSM4030947 c.1075C>A p.Q359K Substitution - Missense 1:26284144-26284144 - CSCC-37-T COSM4546163 c.393G>A p.T131T Substitution - coding silent 1:26296958-26296958 - CSCC-41-T COSM4527735 c.1486G>A p.G496S Substitution - Missense 1:26282376-26282376 - 1267-01-05TD COSM5417883 c.1141G>A p.E381K Substitution - Missense 1:26282874-26282874 - HCC080T COSM5810611 c.377A>T p.Q126L Substitution - Missense 1:26296974-26296974 - UM-SCC-11B COSM1473806 c.1470_1475delTCCCGG p.G492_P493delGP Deletion - In frame 1:26282387-26282392 - T6 COSM3997451 c.138A>G p.S46S Substitution - coding silent 1:26300987-26300987 - TCGA-AA-3858-01 COSM295933 c.690C>T p.L230L Substitution - coding silent 1:26285907-26285907 - SCC-15 COSM3751123 c.1501C>T p.P501S Substitution - Missense 1:26282361-26282361 - CAL33 COSM1602121 c.1510G>T p.G504C Substitution - Missense 1:26282352-26282352 - PTC_291 COSM5959924 c.1491_1492insTCTCCC p.P497_G498insSP Insertion - In frame 1:26282370-26282371 - SCC-9 COSM4143711 c.1539T>C p.P513P Substitution - coding silent 1:26282323-26282323 - PTC-7C COSM4143711 c.1539T>C p.P513P Substitution - coding silent 1:26282323-26282323 - ORL-48 COSM4592903 c.1534T>G p.C512G Substitution - Missense 1:26282328-26282328 - PTC-7C COSM3997450 c.935T>G p.L312R Substitution - Missense 1:26284400-26284400 - WSU-HN12 COSM1602121 c.1510G>T p.G504C Substitution - Missense 1:26282352-26282352 - SCC-9 COSM4603022 c.1510_1511insTGTCCC p.G504>VSR Complex - insertion inframe 1:26282351-26282352 - PTC-10C COSM3751122 c.1504A>T p.S502C Substitution - Missense 1:26282358-26282358 - Au9 COSM4168365 c.1510_1533del24 p.G504_P511delGPGPGPSP Deletion - In frame 1:26282329-26282352 - AML_14y_02_DX COSM907611 c.1464T>A p.G488G Substitution - coding silent 1:26282398-26282398 - UM-SCC-47 COSM1288806 c.1468G>A p.G490S Substitution - Missense 1:26282394-26282394 - BICR_22 COSM1602121 c.1510G>T p.G504C Substitution - Missense 1:26282352-26282352 - HCT8 COSM2235065 c.938T>C p.M313T Substitution - Missense 1:26284397-26284397 - SCC-9 COSM1602121 c.1510G>T p.G504C Substitution - Missense 1:26282352-26282352 - TCGA-AR-A24M-01 COSM907611 c.1464T>A p.G488G Substitution - coding silent 1:26282398-26282398 - SCC-9 COSM3751123 c.1501C>T p.P501S Substitution - Missense 1:26282361-26282361 - SCC-25 COSM3751123 c.1501C>T p.P501S Substitution - Missense 1:26282361-26282361 - CAL27 COSM1602122 c.1480A>T p.S494C Substitution - Missense 1:26282382-26282382 - HN_00190 COSM127209 c.199+2T>G p.? Unknown 1:26300924-26300924 - sysucc-1512T COSM907611 c.1464T>A p.G488G Substitution - coding silent 1:26282398-26282398 - KM12 COSM4638892 c.316G>A p.A106T Substitution - Missense 1:26297466-26297466 - WSU-HN30 COSM3751123 c.1501C>T p.P501S Substitution - Missense 1:26282361-26282361 - M14 COSM1667283 c.781C>T p.L261F Substitution - Missense 1:26285535-26285535 - TCGA-AA-3663-01 COSM1602122 c.1480A>T p.S494C Substitution - Missense 1:26282382-26282382 - TCGA-D5-6924-01 COSM1341324 c.1486G>T p.G496C Substitution - Missense 1:26282376-26282376 - WSU-HN13 COSM1288806 c.1468G>A p.G490S Substitution - Missense 1:26282394-26282394 - SCC-9 COSM1288806 c.1468G>A p.G490S Substitution - Missense 1:26282394-26282394 - SKNEP1 COSM4577166 c.1138G>A p.A380T Substitution - Missense 1:26282877-26282877 - UPCI:SCC090 COSM1602121 c.1510G>T p.G504C Substitution - Missense 1:26282352-26282352 - RMS113_ COSM4143713 c.1498G>A p.G500S Substitution - Missense 1:26282364-26282364 - PTC-515C COSM907611 c.1464T>A p.G488G Substitution - coding silent 1:26282398-26282398 - BHY COSM4592903 c.1534T>G p.C512G Substitution - Missense 1:26282328-26282328 - Pat_16_B COSM128744 c.1509_1510insTGTCCC p.P503_G504insCP Insertion - In frame 1:26282352-26282353 - WSU-HN13 COSM4603022 c.1510_1511insTGTCCC p.G504>VSR Complex - insertion inframe 1:26282351-26282352 - TCGA-HU-A4H4-01 COSM4030945 c.1356T>C p.D452D Substitution - coding silent 1:26282506-26282506 - CN-AML-CR-57-Dx COSM4236131 c.1515C>T p.P505P Substitution - coding silent 1:26282347-26282347 - Pat_41_B COSM5846211 c.95G>A p.G32E Substitution - Missense 1:26301699-26301699 - UM-SCC-4 COSM1341324 c.1486G>T p.G496C Substitution - Missense 1:26282376-26282376 - HN_62318 COSM128430 c.1062C>T p.I354I Substitution - coding silent 1:26284157-26284157 - TCGA-AZ-4315-01 COSM1341325 c.1132T>G p.L378V Substitution - Missense 1:26282883-26282883 - UD-SCC-2 COSM3751123 c.1501C>T p.P501S Substitution - Missense 1:26282361-26282361 - CRC-01T COSM3751123 c.1501C>T p.P501S Substitution - Missense 1:26282361-26282361 - PTC-88C COSM1341323 c.1487G>C p.G496A Substitution - Missense 1:26282375-26282375 - 93VU147T COSM3751123 c.1501C>T p.P501S Substitution - Missense 1:26282361-26282361 - CAL33 COSM3751123 c.1501C>T p.P501S Substitution - Missense 1:26282361-26282361 - 4760_CLM COSM5754419 c.1270C>T p.R424* Substitution - Nonsense 1:26282671-26282671 - TCGA-21-1081-01 COSM680197 c.1417C>T p.R473* Substitution - Nonsense 1:26282445-26282445 - WSU-HN13 COSM4591100 c.1522G>A p.G508S Substitution - Missense 1:26282340-26282340 - CAL33 COSM4603022 c.1510_1511insTGTCCC p.G504>VSR Complex - insertion inframe 1:26282351-26282352 - PTC_340 COSM3749046 c.1525C>T p.P509S Substitution - Missense 1:26282337-26282337 - HCC139T COSM1602121 c.1510G>T p.G504C Substitution - Missense 1:26282352-26282352 - A8 COSM5350096 c.1457_1460delGTCC p.C486fs*>34 Deletion - Frameshift 1:26282402-26282405 - 93VU147T COSM4143711 c.1539T>C p.P513P Substitution - coding silent 1:26282323-26282323 - Detroit_562 COSM111756 c.1464_1541del78 p.G490_P515del26 Deletion - In frame 1:26282321-26282398 - LUAD_E01166 COSM390704 c.59C>T p.P20L Substitution - Missense 1:26302825-26302825 - TCGA-E2-A109-01 COSM1341324 c.1486G>T p.G496C Substitution - Missense 1:26282376-26282376 - BICR_22 COSM4591100 c.1522G>A p.G508S Substitution - Missense 1:26282340-26282340 - BICR_22 COSM4143711 c.1539T>C p.P513P Substitution - coding silent 1:26282323-26282323 - 8069443 COSM3771705 c.543G>T p.K181N Substitution - Missense 1:26294221-26294221 - TCGA-AP-A051-01 COSM907614 c.1154G>A p.S385N Substitution - Missense 1:26282787-26282787 - TCGA-22-5491-01 COSM680196 c.810C>G p.P270P Substitution - coding silent 1:26285506-26285506 - TCGA-D1-A17A-01 COSM907612 c.1235T>C p.L412P Substitution - Missense 1:26282706-26282706 - U343 COSM1602122 c.1480A>T p.S494C Substitution - Missense 1:26282382-26282382 - Pat_16_A COSM5846210 c.806T>A p.F269Y Substitution - Missense 1:26285510-26285510 - PTC-7C COSM425990 c.1457G>C p.C486S Substitution - Missense 1:26282405-26282405 - UM-SCC-17B COSM4603022 c.1510_1511insTGTCCC p.G504>VSR Complex - insertion inframe 1:26282351-26282352 - UPCI:SCC090 COSM3751123 c.1501C>T p.P501S Substitution - Missense 1:26282361-26282361 - BICR_22 COSM1288806 c.1468G>A p.G490S Substitution - Missense 1:26282394-26282394 - OSCC-GB_00130111 COSM3711307 c.1491C>T p.P497P Substitution - coding silent 1:26282371-26282371 - ORL-48 COSM1473806 c.1470_1475delTCCCGG p.G492_P493delGP Deletion - In frame 1:26282387-26282392 - TCGA-AZ-4615-01 COSM1602121 c.1510G>T p.G504C Substitution - Missense 1:26282352-26282352 - ORL-48 COSM4603022 c.1510_1511insTGTCCC p.G504>VSR Complex - insertion inframe 1:26282351-26282352 - pfg143T COSM4751536 c.775C>T p.R259C Substitution - Missense 1:26285541-26285541 - UM-SCC-17B COSM4143711 c.1539T>C p.P513P Substitution - coding silent 1:26282323-26282323 - sysucc-657T COSM1602121 c.1510G>T p.G504C Substitution - Missense 1:26282352-26282352 - TCGA-CL-4957-01 COSM3749046 c.1525C>T p.P509S Substitution - Missense 1:26282337-26282337 - NB-0232 COSM907611 c.1464T>A p.G488G Substitution - coding silent 1:26282398-26282398 - S01453 COSM4236139 c.1473C>T p.P491P Substitution - coding silent 1:26282389-26282389 - sysucc-936T COSM4143715 c.1470T>C p.G490G Substitution - coding silent 1:26282392-26282392 - PTC-1C COSM3751123 c.1501C>T p.P501S Substitution - Missense 1:26282361-26282361 - WSU-HN13 COSM1602122 c.1480A>T p.S494C Substitution - Missense 1:26282382-26282382 - STC252 COSM5053353 c.917G>C p.R306P Substitution - Missense 1:26284418-26284418 - WSU-HN30 COSM4603022 c.1510_1511insTGTCCC p.G504>VSR Complex - insertion inframe 1:26282351-26282352 - TCGA-AY-6386-01 COSM3751124 c.1488T>C p.G496G Substitution - coding silent 1:26282374-26282374 - I2L-P11-Tumor-Organoid COSM5352716 c.866G>A p.R289H Substitution - Missense 1:26284469-26284469 - CRC-06T COSM2235073 c.392C>T p.T131M Substitution - Missense 1:26296959-26296959 - SNUH_G10_S1 COSM3997450 c.935T>G p.L312R Substitution - Missense 1:26284400-26284400 - RMS77_ COSM4143713 c.1498G>A p.G500S Substitution - Missense 1:26282364-26282364 - TCGA-C8-A138-01 COSM5350095 c.1462_1463delGG p.G488fs*>33 Deletion - Frameshift 1:26282399-26282400 - TCGA-AP-A0LE-01 COSM907619 c.54G>A p.S18S Substitution - coding silent 1:26302830-26302830 - HCT116 COSM2235061 c.1072T>C p.L358L Substitution - coding silent 1:26284147-26284147 - T263 COSM4738983 c.1284G>A p.A428A Substitution - coding silent 1:26282657-26282657 - sysucc-325T COSM1602122 c.1480A>T p.S494C Substitution - Missense 1:26282382-26282382 - BICR_22 COSM1602122 c.1480A>T p.S494C Substitution - Missense 1:26282382-26282382 - TCGA-AX-A0J1-01 COSM907611 c.1464T>A p.G488G Substitution - coding silent 1:26282398-26282398 - WSU-HN6 COSM1288806 c.1468G>A p.G490S Substitution - Missense 1:26282394-26282394 - TCGA-AA-3713-01 COSM1341323 c.1487G>C p.G496A Substitution - Missense 1:26282375-26282375 - UM-SCC-47 COSM4603022 c.1510_1511insTGTCCC p.G504>VSR Complex - insertion inframe 1:26282351-26282352 - CSCC-41-T COSM4236133 c.1510G>A p.G504S Substitution - Missense 1:26282352-26282352 - PTC-28C COSM4143717 c.1173G>A p.T391T Substitution - coding silent 1:26282768-26282768 - TCGA-BS-A0UT-01 COSM907610 c.1470_1499del30 p.G492_P501del10 Deletion - In frame 1:26282363-26282392 - SCC-25 COSM1602122 c.1480A>T p.S494C Substitution - Missense 1:26282382-26282382 - 93VU147T COSM1602122 c.1480A>T p.S494C Substitution - Missense 1:26282382-26282382 - SC_9047 COSM5551551 c.737A>C p.D246A Substitution - Missense 1:26285860-26285860 - UM-SCC-2 COSM1602121 c.1510G>T p.G504C Substitution - Missense 1:26282352-26282352 - WSU-HN8 COSM3751123 c.1501C>T p.P501S Substitution - Missense 1:26282361-26282361 - CAL27 COSM4143711 c.1539T>C p.P513P Substitution - coding silent 1:26282323-26282323 - PTC-10C COSM4143715 c.1470T>C p.G490G Substitution - coding silent 1:26282392-26282392 - TCGA-AA-3697-01 COSM1602122 c.1480A>T p.S494C Substitution - Missense 1:26282382-26282382 - UM-SCC-17B COSM1602122 c.1480A>T p.S494C Substitution - Missense 1:26282382-26282382 - SNUH_G45_S1 COSM3997450 c.935T>G p.L312R Substitution - Missense 1:26284400-26284400 - TCGA-61-1995-01 COSM73189 c.1051C>T p.R351W Substitution - Missense 1:26284168-26284168 - SCC-25 COSM1473806 c.1470_1475delTCCCGG p.G492_P493delGP Deletion - In frame 1:26282387-26282392 - SJHGG003_A COSM4968951 c.1199G>A p.R400H Substitution - Missense 1:26282742-26282742 - UM-SCC-4 COSM4143711 c.1539T>C p.P513P Substitution - coding silent 1:26282323-26282323 - TCGA-F4-6463-01 COSM1473806 c.1470_1475delTCCCGG p.G492_P493delGP Deletion - In frame 1:26282387-26282392 - PTC-10C COSM4143713 c.1498G>A p.G500S Substitution - Missense 1:26282364-26282364 - TCGA-BS-A0U8-01 COSM907613 c.1206G>T p.K402N Substitution - Missense 1:26282735-26282735 - WSU-HN8 COSM1602122 c.1480A>T p.S494C Substitution - Missense 1:26282382-26282382 - CAL33 COSM1288806 c.1468G>A p.G490S Substitution - Missense 1:26282394-26282394 - UM-SCC-11B COSM4603022 c.1510_1511insTGTCCC p.G504>VSR Complex - insertion inframe 1:26282351-26282352 - TCGA-DT-5265-01 COSM128744 c.1509_1510insTGTCCC p.P503_G504insCP Insertion - In frame 1:26282352-26282353 - TCGA-BR-7851-01 COSM4030946 c.1282G>A p.A428T Substitution - Missense 1:26282659-26282659 - I2L-P19Tb-Tumor-Biopsy COSM1473806 c.1470_1475delTCCCGG p.G492_P493delGP Deletion - In frame 1:26282387-26282392 - S02255 COSM5680332 c.463delG p.V155fs*24 Deletion - Frameshift 1:26294301-26294301 - PTC-77C COSM1602122 c.1480A>T p.S494C Substitution - Missense 1:26282382-26282382 - BD114T COSM5502185 c.973+10G>A p.? Unknown 1:26284352-26284352 - TCGA-D5-6537-01 COSM3751123 c.1501C>T p.P501S Substitution - Missense 1:26282361-26282361 - BD204T COSM1602121 c.1510G>T p.G504C Substitution - Missense 1:26282352-26282352 - SCC-25 COSM1602121 c.1510G>T p.G504C Substitution - Missense 1:26282352-26282352 - HCC86T COSM1602123 c.1476C>T p.G492G Substitution - coding silent 1:26282386-26282386 - WSU-HN8 COSM1341324 c.1486G>T p.G496C Substitution - Missense 1:26282376-26282376 - sysucc-783T COSM5483790 c.1462G>T p.G488C Substitution - Missense 1:26282400-26282400 - TCGA-CH-5739-01 COSM3671701 c.1262G>T p.G421V Substitution - Missense 1:26282679-26282679 - BD88T COSM4143712 c.1518T>A p.G506G Substitution - coding silent 1:26282344-26282344 - BD101T COSM907611 c.1464T>A p.G488G Substitution - coding silent 1:26282398-26282398 - A8 COSM5350095 c.1462_1463delGG p.G488fs*>33 Deletion - Frameshift 1:26282399-26282400 - UM-SCC-11B COSM1602122 c.1480A>T p.S494C Substitution - Missense 1:26282382-26282382 - TCGA-AO-A128-01 COSM3804797 c.691G>A p.E231K Substitution - Missense 1:26285906-26285906 - WSU-HN30 COSM4143711 c.1539T>C p.P513P Substitution - coding silent 1:26282323-26282323 - MDA-MB-435 COSM1667283 c.781C>T p.L261F Substitution - Missense 1:26285535-26285535 - TCGA-CG-4466-01 COSM4030948 c.738C>T p.D246D Substitution - coding silent 1:26285859-26285859 - UM-SCC-4 COSM1602122 c.1480A>T p.S494C Substitution - Missense 1:26282382-26282382 - ML_79_T_01 COSM2235055 c.1339A>C p.T447P Substitution - Missense 1:26282523-26282523 - BD101T COSM1288806 c.1468G>A p.G490S Substitution - Missense 1:26282394-26282394 - TCGA-AA-3697-01 COSM1602123 c.1476C>T p.G492G Substitution - coding silent 1:26282386-26282386 - PTC-77C COSM4143712 c.1518T>A p.G506G Substitution - coding silent 1:26282344-26282344 - HCT8 COSM4633719 c.578C>T p.P193L Substitution - Missense 1:26286019-26286019 - TCGA-AG-A002-01 COSM264531 c.1317G>T p.E439D Substitution - Missense 1:26282545-26282545 - T3174 COSM4738982 c.1334C>T p.P445L Substitution - Missense 1:26282528-26282528 - CAL27 COSM3751123 c.1501C>T p.P501S Substitution - Missense 1:26282361-26282361 - TCGA-AZ-4615-01 COSM3689547 c.1337C>A p.P446H Substitution - Missense 1:26282525-26282525 - TCGA-D5-6924-01 COSM425990 c.1457G>C p.C486S Substitution - Missense 1:26282405-26282405 - WSU-HN13 COSM1602121 c.1510G>T p.G504C Substitution - Missense 1:26282352-26282352 - DLD1 COSM2235065 c.938T>C p.M313T Substitution - Missense 1:26284397-26284397 - ccRCC-56 COSM1659496 c.1198C>T p.R400C Substitution - Missense 1:26282743-26282743 - sysucc-936T COSM1602123 c.1476C>T p.G492G Substitution - coding silent 1:26282386-26282386 - HCT15 COSM2235065 c.938T>C p.M313T Substitution - Missense 1:26284397-26284397 - BICR_22 COSM3751123 c.1501C>T p.P501S Substitution - Missense 1:26282361-26282361 - UD-SCC-2 COSM4591100 c.1522G>A p.G508S Substitution - Missense 1:26282340-26282340 - STC246 COSM5053352 c.1301A>G p.D434G Substitution - Missense 1:26282561-26282561 - UM-SCC-11B COSM1341324 c.1486G>T p.G496C Substitution - Missense 1:26282376-26282376 - RMS113_ COSM4236135 c.1498G>T p.G500C Substitution - Missense 1:26282364-26282364 - 13T COSM3711307 c.1491C>T p.P497P Substitution - coding silent 1:26282371-26282371 - SCC-25 COSM4143711 c.1539T>C p.P513P Substitution - coding silent 1:26282323-26282323 - Pat_54_A COSM5846212 c.76C>T p.R26* Substitution - Nonsense 1:26301718-26301718 - TCGA-FW-A3R5-06 COSM3865187 c.161C>T p.S54F Substitution - Missense 1:26300964-26300964 - TCGA-DK-A3IL-01 COSM1296210 c.931C>T p.Q311* Substitution - Nonsense 1:26284404-26284404 - WSU-HN6 COSM4603022 c.1510_1511insTGTCCC p.G504>VSR Complex - insertion inframe 1:26282351-26282352 - CN-AML-CR-34-Dx COSM5425100 c.1480A>G p.S494G Substitution - Missense 1:26282382-26282382 - TCGA-D8-A1JI-01 COSM5350095 c.1462_1463delGG p.G488fs*>33 Deletion - Frameshift 1:26282399-26282400 - PTC-7C COSM4143717 c.1173G>A p.T391T Substitution - coding silent 1:26282768-26282768 - T3091 COSM4738979 c.1518_1523delTCCCGG p.G508_P509delGP Deletion - In frame 1:26282339-26282344 - SCC-15 COSM4603022 c.1510_1511insTGTCCC p.G504>VSR Complex - insertion inframe 1:26282351-26282352 - sysucc-783T COSM3751123 c.1501C>T p.P501S Substitution - Missense 1:26282361-26282361 - Pat_16_B COSM5846210 c.806T>A p.F269Y Substitution - Missense 1:26285510-26285510 - LIM2551 COSM4643755 c.704T>C p.L235P Substitution - Missense 1:26285893-26285893 - UPCI:SCC090 COSM1602122 c.1480A>T p.S494C Substitution - Missense 1:26282382-26282382 - SCC-25 COSM4603022 c.1510_1511insTGTCCC p.G504>VSR Complex - insertion inframe 1:26282351-26282352 - RH30SJ_ COSM4985537 c.1492G>A p.G498S Substitution - Missense 1:26282370-26282370 - UPCI:SCC090 COSM1473806 c.1470_1475delTCCCGG p.G492_P493delGP Deletion - In frame 1:26282387-26282392 - WA55 COSM238396 c.784C>A p.R262R Substitution - coding silent 1:26285532-26285532 - UM-SCC-17B COSM1341324 c.1486G>T p.G496C Substitution - Missense 1:26282376-26282376 - AA2051 COSM4168365 c.1510_1533del24 p.G504_P511delGPGPGPSP Deletion - In frame 1:26282329-26282352 - WSU-HN8 COSM4143711 c.1539T>C p.P513P Substitution - coding silent 1:26282323-26282323 - TCGA-EB-A5SG-06 COSM3865186 c.947C>T p.A316V Substitution - Missense 1:26284388-26284388 - ESCC_5 COSM5623052 c.1482T>C p.S494S Substitution - coding silent 1:26282380-26282380 - WSU-HN12 COSM1602122 c.1480A>T p.S494C Substitution - Missense 1:26282382-26282382 - UM-SCC-17B COSM1473806 c.1470_1475delTCCCGG p.G492_P493delGP Deletion - In frame 1:26282387-26282392 - HSJD_DIPG003 COSM1602121 c.1510G>T p.G504C Substitution - Missense 1:26282352-26282352 - PTC-88C COSM4143712 c.1518T>A p.G506G Substitution - coding silent 1:26282344-26282344 - WSU-HN13 COSM3751123 c.1501C>T p.P501S Substitution - Missense 1:26282361-26282361 - WSU-HN30 COSM1602121 c.1510G>T p.G504C Substitution - Missense 1:26282352-26282352 - AML_14y_02_DX COSM1288806 c.1468G>A p.G490S Substitution - Missense 1:26282394-26282394 - WSU-HN12 COSM4591100 c.1522G>A p.G508S Substitution - Missense 1:26282340-26282340 - T3091 COSM4738980 c.1494_1499delTCCCGG p.G500_P501delGP Deletion - In frame 1:26282363-26282368 - LP6007414-DNA_A02 COSM4409690 c.865C>T p.R289C Substitution - Missense 1:26284470-26284470 - UM-SCC-4 COSM4603022 c.1510_1511insTGTCCC p.G504>VSR Complex - insertion inframe 1:26282351-26282352 - PTC-70C COSM1602122 c.1480A>T p.S494C Substitution - Missense 1:26282382-26282382 - UPCI:SCC090 COSM4603022 c.1510_1511insTGTCCC p.G504>VSR Complex - insertion inframe 1:26282351-26282352 - UM-SCC-2 COSM4603022 c.1510_1511insTGTCCC p.G504>VSR Complex - insertion inframe 1:26282351-26282352 - TCGA-BP-4963-01 COSM464352 c.418G>C p.V140L Substitution - Missense 1:26296933-26296933 - WSU-HN6 COSM1602122 c.1480A>T p.S494C Substitution - Missense 1:26282382-26282382 - TCGA-AR-A24M-01 COSM1288806 c.1468G>A p.G490S Substitution - Missense 1:26282394-26282394 - WSU-HN6 COSM1473806 c.1470_1475delTCCCGG p.G492_P493delGP Deletion - In frame 1:26282387-26282392 - RMS88_ COSM4236135 c.1498G>T p.G500C Substitution - Missense 1:26282364-26282364 - TCGA-E2-A14P-01 COSM425991 c.1424C>T p.P475L Substitution - Missense 1:26282438-26282438 - WSU-HN6 COSM4143711 c.1539T>C p.P513P Substitution - coding silent 1:26282323-26282323 - TCGA-D5-6537-01 COSM5827844 c.1474_1479delGGCCCC p.G492_P493delGP Deletion - In frame 1:26282383-26282388 - WA12 COSM238397 c.100+9G>A p.? Unknown 1:26301685-26301685 - TCGA-AY-6386-01 COSM3751122 c.1504A>T p.S502C Substitution - Missense 1:26282358-26282358 - TCGA-37-5819-01 COSM680195 c.592G>A p.D198N Substitution - Missense 1:26286005-26286005 - NB1794 COSM5350095 c.1462_1463delGG p.G488fs*>33 Deletion - Frameshift 1:26282399-26282400 - WSU-HN13 COSM4143711 c.1539T>C p.P513P Substitution - coding silent 1:26282323-26282323 - TCGA-G4-6321-01 COSM3751123 c.1501C>T p.P501S Substitution - Missense 1:26282361-26282361 - CSCC-40-T COSM4559563 c.80G>A p.G27E Substitution - Missense 1:26301714-26301714 - CPCG0099-F1 COSM1602121 c.1510G>T p.G504C Substitution - Missense 1:26282352-26282352 - 93VU147T COSM4603022 c.1510_1511insTGTCCC p.G504>VSR Complex - insertion inframe 1:26282351-26282352 - J1_T COSM1602122 c.1480A>T p.S494C Substitution - Missense 1:26282382-26282382 - RK028_C01 COSM3741198 c.341T>C p.L114P Substitution - Missense 1:26297441-26297441 - WSU-HN30 COSM1473806 c.1470_1475delTCCCGG p.G492_P493delGP Deletion - In frame 1:26282387-26282392 - TCGA-EE-A3JD-06 COSM4395388 c.549C>T p.F183F Substitution - coding silent 1:26294215-26294215 - SNUH_G45_S1 COSM3997451 c.138A>G p.S46S Substitution - coding silent 1:26300987-26300987 - HCC86T COSM1602122 c.1480A>T p.S494C Substitution - Missense 1:26282382-26282382 - SCC-25 COSM1341324 c.1486G>T p.G496C Substitution - Missense 1:26282376-26282376 - ESO-0029 COSM1269671 c.202C>T p.P68S Substitution - Missense 1:26298060-26298060 - PTC-7C COSM4143716 c.1365G>T p.T455T Substitution - coding silent 1:26282497-26282497 - TCGA-B5-A11J-01 COSM907618 c.194G>A p.R65Q Substitution - Missense 1:26300931-26300931 - PTC-73C COSM4143712 c.1518T>A p.G506G Substitution - coding silent 1:26282344-26282344 - PTC-6C COSM3751123 c.1501C>T p.P501S Substitution - Missense 1:26282361-26282361 - TCGA-AA-3662-01 COSM3751123 c.1501C>T p.P501S Substitution - Missense 1:26282361-26282361 - PTC-77C COSM1602124 c.1474G>A p.G492S Substitution - Missense 1:26282388-26282388 - RMS77_ COSM4236135 c.1498G>T p.G500C Substitution - Missense 1:26282364-26282364 - NOKSI COSM4603022 c.1510_1511insTGTCCC p.G504>VSR Complex - insertion inframe 1:26282351-26282352 - Detroit_562 COSM4143711 c.1539T>C p.P513P Substitution - coding silent 1:26282323-26282323 - PT48 COSM5930783 c.1181C>T p.P394L Substitution - Missense 1:26282760-26282760 - RD COSM4143713 c.1498G>A p.G500S Substitution - Missense 1:26282364-26282364 - TCGA-EK-A3GJ-01 COSM4852312 c.441C>T p.L147L Substitution - coding silent 1:26294323-26294323 - NOKSI COSM1602122 c.1480A>T p.S494C Substitution - Missense 1:26282382-26282382 - 93VU147T COSM1602121 c.1510G>T p.G504C Substitution - Missense 1:26282352-26282352 - PTC-1C COSM1602121 c.1510G>T p.G504C Substitution - Missense 1:26282352-26282352 - TCGA-AP-A051-01 COSM907616 c.669C>T p.G223G Substitution - coding silent 1:26285928-26285928 - TCGA-G4-6628-01 COSM5827845 c.1293-3delC p.? Unknown 1:26282572-26282572 - WSU-HN8 COSM4603022 c.1510_1511insTGTCCC p.G504>VSR Complex - insertion inframe 1:26282351-26282352 - Detroit_562 COSM4594411 c.1501_1517del17 p.P501fs*>15 Deletion - Frameshift 1:26282345-26282361 - ORL-48 COSM4143711 c.1539T>C p.P513P Substitution - coding silent 1:26282323-26282323 - WSU-HN6 COSM3751123 c.1501C>T p.P501S Substitution - Missense 1:26282361-26282361 - CT-TC COSM4236135 c.1498G>T p.G500C Substitution - Missense 1:26282364-26282364 - TCGA-AP-A056-01 COSM907615 c.1034G>A p.G345D Substitution - Missense 1:26284185-26284185 - PTC-10C COSM1602124 c.1474G>A p.G492S Substitution - Missense 1:26282388-26282388 - LC_C8 COSM1185371 c.373C>T p.R125W Substitution - Missense 1:26296978-26296978 - CAL33 COSM4143711 c.1539T>C p.P513P Substitution - coding silent 1:26282323-26282323 - UM-SCC-2 COSM4143711 c.1539T>C p.P513P Substitution - coding silent 1:26282323-26282323 - PTC-6C COSM1602121 c.1510G>T p.G504C Substitution - Missense 1:26282352-26282352 - PTC-10C COSM1602123 c.1476C>T p.G492G Substitution - coding silent 1:26282386-26282386 - Pat_60_B COSM3865186 c.947C>T p.A316V Substitution - Missense 1:26284388-26284388 - NOKSI COSM1602121 c.1510G>T p.G504C Substitution - Missense 1:26282352-26282352 - PTC-7C COSM3749046 c.1525C>T p.P509S Substitution - Missense 1:26282337-26282337 - NOKSI COSM4143711 c.1539T>C p.P513P Substitution - coding silent 1:26282323-26282323 - 345973 COSM3726857 c.774+9_774+10insC p.? Unknown 1:26285813-26285814 - PTC-77C COSM3751123 c.1501C>T p.P501S Substitution - Missense 1:26282361-26282361 - RD COSM4985537 c.1492G>A p.G498S Substitution - Missense 1:26282370-26282370 - 93VU147T COSM4591100 c.1522G>A p.G508S Substitution - Missense 1:26282340-26282340 - T3147 COSM4738981 c.1481G>A p.S494N Substitution - Missense 1:26282381-26282381 - PTC-54C COSM4143714 c.1494T>C p.G498G Substitution - coding silent 1:26282368-26282368 - 3402_T COSM3977543 c.468C>A p.G156G Substitution - coding silent 1:26294296-26294296 - SCC-15 COSM4143711 c.1539T>C p.P513P Substitution - coding silent 1:26282323-26282323 - TCGA-D1-A16X-01 COSM907617 c.545A>C p.K182T Substitution - Missense 1:26294219-26294219 - NOKSI COSM3751123 c.1501C>T p.P501S Substitution - Missense 1:26282361-26282361 - SCC-15 COSM1602121 c.1510G>T p.G504C Substitution - Missense 1:26282352-26282352 - WSU-HN8 COSM1473806 c.1470_1475delTCCCGG p.G492_P493delGP Deletion - In frame 1:26282387-26282392 - RH30SJ_ COSM4985536 c.1516G>A p.G506S Substitution - Missense 1:26282346-26282346 - WSU-HN8 COSM1288806 c.1468G>A p.G490S Substitution - Missense 1:26282394-26282394 - UD-SCC-2 COSM4143711 c.1539T>C p.P513P Substitution - coding silent 1:26282323-26282323 - TCGA-31-1950-01 COSM111756 c.1464_1541del78 p.G490_P515del26 Deletion - In frame 1:26282321-26282398 - PTC-1C COSM1602122 c.1480A>T p.S494C Substitution - Missense 1:26282382-26282382 - C0099T COSM4165140 c.345G>C p.R115R Substitution - coding silent 1:26297437-26297437 - PDA_030 COSM4999464 c.738C>A p.D246E Substitution - Missense 1:26285859-26285859 - UM-SCC-2 COSM1602122 c.1480A>T p.S494C Substitution - Missense 1:26282382-26282382 - CAL33 COSM4591100 c.1522G>A p.G508S Substitution - Missense 1:26282340-26282340 - SCC-15 COSM1288806 c.1468G>A p.G490S Substitution - Missense 1:26282394-26282394 - UM-SCC-17B COSM1602121 c.1510G>T p.G504C Substitution - Missense 1:26282352-26282352 - UM-SCC-47 COSM4143711 c.1539T>C p.P513P Substitution - coding silent 1:26282323-26282323 - I2L-P11-Tumor-Biopsy COSM5352716 c.866G>A p.R289H Substitution - Missense 1:26284469-26284469 - NOKSI COSM1288806 c.1468G>A p.G490S Substitution - Missense 1:26282394-26282394 - UM-SCC-4 COSM1602121 c.1510G>T p.G504C Substitution - Missense 1:26282352-26282352 - CN-AML-NR-08-Dx COSM3997451 c.138A>G p.S46S Substitution - coding silent 1:26300987-26300987 - CAL27 COSM1602121 c.1510G>T p.G504C Substitution - Missense 1:26282352-26282352 - UM-SCC-11B COSM4143711 c.1539T>C p.P513P Substitution - coding silent 1:26282323-26282323 - PTC-46C COSM1602122 c.1480A>T p.S494C Substitution - Missense 1:26282382-26282382 - I2L-P19Tb-Tumor-Organoid COSM1473806 c.1470_1475delTCCCGG p.G492_P493delGP Deletion - In frame 1:26282387-26282392 - GC_359T-GC_359N COSM4236142 c.1456T>A p.C486S Substitution - Missense 1:26282406-26282406 - TCGA-AZ-4615-01 COSM3751123 c.1501C>T p.P501S Substitution - Missense 1:26282361-26282361 - TCGA-FW-A5DX-01 COSM3487477 c.438C>T p.F146F Substitution - coding silent 1:26294326-26294326 - Detroit_562 COSM4594415 c.1521_1527delCGGCCCC p.G508fs*>11 Deletion - Frameshift 1:26282335-26282341 - SCC-9 COSM4591100 c.1522G>A p.G508S Substitution - Missense 1:26282340-26282340 - BICR_22 COSM1473806 c.1470_1475delTCCCGG p.G492_P493delGP Deletion - In frame 1:26282387-26282392 - UD-SCC-2 COSM4603022 c.1510_1511insTGTCCC p.G504>VSR Complex - insertion inframe 1:26282351-26282352 - CT-TC COSM4143713 c.1498G>A p.G500S Substitution - Missense 1:26282364-26282364 - HN_62699 COSM128744 c.1509_1510insTGTCCC p.P503_G504insCP Insertion - In frame 1:26282352-26282353 - TCGA-EE-A2GR-06 COSM3487476 c.552G>A p.W184* Substitution - Nonsense 1:26294212-26294212 - 3N59-VS-3T59 COSM4984133 c.479A>G p.D160G Substitution - Missense 1:26294285-26294285 - TCGA-A2-A4RW-01 COSM3804798 c.516T>A p.H172Q Substitution - Missense 1:26294248-26294248 - TCGA-D5-6931-01 COSM128744 c.1509_1510insTGTCCC p.P503_G504insCP Insertion - In frame 1:26282352-26282353 - GC_342T_a-GC_342N COSM3751123 c.1501C>T p.P501S Substitution - Missense 1:26282361-26282361 - CAL27 COSM4603022 c.1510_1511insTGTCCC p.G504>VSR Complex - insertion inframe 1:26282351-26282352 - ESO-555 COSM1269672 c.1398A>C p.A466A Substitution - coding silent 1:26282464-26282464 -

Mutation - CGAP UNIGENE CYTOBAND OMIM SNP Hs.144989;Hs.145036;Hs.145039;Hs.145049;Hs.145061 1p36.11 609151

Mutation - IntOGen Mutated from(ref) Mutated to(alt) Consequence Type AA Mutation CDS Mutation Chr Pos Cancer A C SpliceDonorSNV . c.1292+2T>G 1 26609138 RCCC A C SpliceDonorSNV . c.199+2T>G 1 26627415 HNSC A G Missense p.L412P c.1235T>C 1 26609197 UCEC C A IntronicSNV . c.1-47G>T 1 26629421 HC C A Missense p.K402N c.1206G>T 1 26609226 UCEC C A Nonsense p.E157* c.469G>T 1 26620786 MB CCAGGACAGGGACTGGGGCCGGGACCGGGACCGGGACTGGGGCCGGGACCGGGACCGGGACTGGGGCCGGGACCGGGA - InFrameDeletion p.G490_P515delGPGPSPGPGPGPSPGPGPGPSPCPGP c.1464_1541delTCCCGGTCCCGGCCCCAGTCCCGGTCCCGGTCCCGGCCCCAGTCCCGGTCCCGGTCCCGGCCCCAGTCCCTGTCCTGG 1 26608812 OV CCGGGACCGGGACCGGGACTGGGGCCGGGA - InFrameDeletion p.G492_P501delGPSPGPGPGP c.1470_1499delTCCCGGCCCCAGTCCCGGTCCCGGTCCCGG 1 26608854 UCEC C G Missense p.V140L c.418G>C 1 26623424 RCCC C T Missense p.D198N c.592G>A 1 26612496 LUSC C T Missense p.D33N c.97G>A 1 26628188 LUAD C T Missense p.R65Q c.194G>A 1 26627422 UCEC C T Nonsense p.W184* c.552G>A 1 26620703 CM C T Synonymous p.S18S c.54G>A 1 26629321 UCEC G A Missense p.P475L c.1424C>T 1 26608929 BRCA G A Missense p.P68S c.202C>T 1 26624551 ESCA G A Missense p.R351W c.1051C>T 1 26610659 OV G A Missense p.S164L c.491C>T 1 26620764 HNSC G A Nonsense p.Q311* c.931C>T 1 26610895 BLCA G A Nonsense p.R473* c.1417C>T 1 26608936 LUSC G A Synonymous p.D215D c.645C>T 1 26612443 LUAD G A Synonymous p.D246D c.738C>T 1 26612350 STAD G A Synonymous p.F183F c.549C>T 1 26620706 CM G A Synonymous p.I28I c.84C>T 1 26628201 CM G A Synonymous p.I354I c.1062C>T 1 26610648 HNSC G A Synonymous p.L230L c.690C>T 1 26612398 COREAD G C Synonymous p.P270P c.810C>G 1 26611997 LUSC GGGACTGGGGCCGGGACCGGGACC - InFrameDeletion p.G504_P511delGPGPGPSP c.1510_1533delGGTCCCGGTCCCGGCCCCAGTCCC 1 26608820 PRAD GGGACTGGGGCCGGGACCGGGACC - InFrameDeletion p.G504_P511delGPGPGPSP c.1510_1533delGGTCCCGGTCCCGGCCCCAGTCCC 1 26608820 THCA GG TA Missense p.P158L c.473_474delinsTA 1 26620781 CM G T Missense p.P234Q c.701C>A 1 26612387 STAD T G Missense p.M243L c.727A>C 1 26612361 HC T G Synonymous p.A466A c.1398A>C 1 26608955 ESCA