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 7 102960085 102960085 + Missense_Mutation SNP C C T TCGA-FD-A5BX-01A-11D-A26M-08 TCGA-FD-A5BX-10A-01D-A26K-08 g.chr7:102960085C>T c.1213G>A c.(1213-1215)Gaa>Aaa p.E405K BLCA 7 102960101 102960101 + Silent SNP G G A TCGA-XF-A8HH-01A-11D-A38G-08 TCGA-XF-A8HH-10A-01D-A38J-08 g.chr7:102960101G>A c.1197C>T c.(1195-1197)ctC>ctT p.L399L BLCA 7 102968139 102968139 + Missense_Mutation SNP C C T TCGA-FD-A6TC-01A-21D-A339-08 TCGA-FD-A6TC-10A-21D-A339-08 g.chr7:102968139C>T c.394G>A c.(394-396)Gaa>Aaa p.E132K BRCA 7 102956214 102956214 + Missense_Mutation SNP C C G TCGA-BH-A0B6-01A-11D-A19Y-09 TCGA-BH-A0B6-10A-01D-A19Y-09 g.chr7:102956214C>G c.1633G>C c.(1633-1635)Gaa>Caa p.E545Q BRCA 7 102957367 102957367 + Missense_Mutation SNP C C A TCGA-AC-A23H-01A-11D-A159-09 TCGA-AC-A23H-11A-12D-A17G-09 g.chr7:102957367C>A c.1337G>T c.(1336-1338)gGa>gTa p.G446V BRCA 7 102960101 102960102 + Frame_Shift_Del DEL GA GA - TCGA-A2-A0D3-01A-11D-A10Y-09 TCGA-A2-A0D3-10A-01D-A110-09 g.chr7:102960101_102960102delGA c.1196_1197delTC c.(1195-1197)ctcfs p.L399fs BRCA 7 102982252 102982252 + Missense_Mutation SNP C C G TCGA-C8-A12T-01A-11D-A10Y-09 TCGA-C8-A12T-10A-01D-A110-09 g.chr7:102982252C>G c.214G>C c.(214-216)Gag>Cag p.E72Q CESC 7 102956536 102956536 + Splice_Site SNP C C T TCGA-IR-A3LI-01A-11D-A20U-09 TCGA-IR-A3LI-10A-01D-A20U-09 g.chr7:102956536C>T c.e14-1 CESC 7 102962392 102962392 + Missense_Mutation SNP C C A TCGA-MU-A51Y-01A-11D-A26G-09 TCGA-MU-A51Y-10A-01D-A26G-09 g.chr7:102962392C>A c.1070G>T c.(1069-1071)cGa>cTa p.R357L CHOL 7 102953518 102953518 + Missense_Mutation SNP G G T TCGA-3X-AAV9-01A-72D-A417-09 TCGA-3X-AAV9-10A-01D-A41A-09 g.chr7:102953518G>T c.1667C>A c.(1666-1668)aCa>aAa p.T556K CHOL 7 102967063 102967063 + Missense_Mutation SNP A A G TCGA-W5-AA2R-01A-11D-A417-09 TCGA-W5-AA2R-10A-01D-A41A-09 g.chr7:102967063A>G c.499T>C c.(499-501)Tca>Cca p.S167P CHOL 7 102982346 102982346 + Missense_Mutation SNP C C A TCGA-4G-AAZO-01A-12D-A417-09 TCGA-4G-AAZO-11A-11D-A41A-09 g.chr7:102982346C>A c.120G>T c.(118-120)aaG>aaT p.K40N COAD 7 102953022 102953022 + Missense_Mutation SNP C C A TCGA-A6-5664-01A-21D-1835-10 TCGA-A6-5664-10A-01D-1835-10 g.chr7:102953022C>A c.1860G>T c.(1858-1860)aaG>aaT p.K620N COAD 7 102953082 102953082 + Silent SNP G G A TCGA-AA-A00N-01A-02W-A00E-09 TCGA-AA-A00N-10A-01W-A00E-09 g.chr7:102953082G>A c.1800C>T c.(1798-1800)gtC>gtT p.V600V COAD 7 102956230 102956230 + Silent SNP C C T TCGA-AA-3672-01A-01W-0900-09 TCGA-AA-3672-10A-01W-0900-09 g.chr7:102956230C>T c.1617G>A c.(1615-1617)acG>acA p.T539T COAD 7 102957291 102957291 + Silent SNP A A G TCGA-F4-6856-01A-11D-1924-10 TCGA-F4-6856-10A-01D-1924-10 g.chr7:102957291A>G c.1413T>C c.(1411-1413)gcT>gcC p.A471A COAD 7 102962421 102962421 + Frame_Shift_Del DEL T T - TCGA-AA-3713-01A-21D-1719-10 TCGA-AA-3713-11A-01D-1719-10 g.chr7:102962421delT c.1041delA c.(1039-1041)aaafs p.K347fs COAD 7 102963177 102963177 + Missense_Mutation SNP C C T TCGA-AZ-4315-01A-01D-1408-10 TCGA-AZ-4315-10A-01D-1408-10 g.chr7:102963177C>T c.784G>A c.(784-786)Gaa>Aaa p.E262K COAD 7 102964935 102964935 + Missense_Mutation SNP G G T TCGA-A6-6141-01A-11D-1771-10 TCGA-A6-6141-10A-01D-1771-10 g.chr7:102964935G>T c.647C>A c.(646-648)tCt>tAt p.S216Y COAD 7 102964991 102964992 + Frame_Shift_Ins INS - - T TCGA-A6-3809-01A-01W-0995-10 TCGA-A6-3809-11A-01W-0995-10 g.chr7:102964991_102964992insT c.590_591insA c.(589-591)aatfs p.N197fs COAD 7 102985031 102985031 + Silent SNP G G A TCGA-AA-3833-01A-01W-0900-09 TCGA-AA-3833-10A-01W-0900-09 g.chr7:102985031G>A c.39C>T c.(37-39)acC>acT p.T13T COADREAD 7 102953022 102953022 + Missense_Mutation SNP C C A TCGA-A6-5664-01A-21D-1835-10 TCGA-A6-5664-10A-01D-1835-10 g.chr7:102953022C>A c.1860G>T c.(1858-1860)aaG>aaT p.K620N COADREAD 7 102953082 102953082 + Silent SNP G G A TCGA-AA-A00N-01A-02W-A00E-09 TCGA-AA-A00N-10A-01W-A00E-09 g.chr7:102953082G>A c.1800C>T c.(1798-1800)gtC>gtT p.V600V COADREAD 7 102956230 102956230 + Silent SNP C C T TCGA-AA-3672-01A-01W-0900-09 TCGA-AA-3672-10A-01W-0900-09 g.chr7:102956230C>T c.1617G>A c.(1615-1617)acG>acA p.T539T COADREAD 7 102957291 102957291 + Silent SNP A A G TCGA-F4-6856-01A-11D-1924-10 TCGA-F4-6856-10A-01D-1924-10 g.chr7:102957291A>G c.1413T>C c.(1411-1413)gcT>gcC p.A471A COADREAD 7 102957318 102957318 + Silent SNP T T C TCGA-AG-3892-01A-01W-1073-09 TCGA-AG-3892-10A-01W-1073-09 g.chr7:102957318T>C c.1386A>G c.(1384-1386)ctA>ctG p.L462L COADREAD 7 102962421 102962421 + Frame_Shift_Del DEL T T - TCGA-AA-3713-01A-21D-1719-10 TCGA-AA-3713-11A-01D-1719-10 g.chr7:102962421delT c.1041delA c.(1039-1041)aaafs p.K347fs COADREAD 7 102963177 102963177 + Missense_Mutation SNP C C T TCGA-AZ-4315-01A-01D-1408-10 TCGA-AZ-4315-10A-01D-1408-10 g.chr7:102963177C>T c.784G>A c.(784-786)Gaa>Aaa p.E262K COADREAD 7 102964935 102964935 + Missense_Mutation SNP G G T TCGA-A6-6141-01A-11D-1771-10 TCGA-A6-6141-10A-01D-1771-10 g.chr7:102964935G>T c.647C>A c.(646-648)tCt>tAt p.S216Y COADREAD 7 102964991 102964992 + Frame_Shift_Ins INS - - T TCGA-A6-3809-01A-01W-0995-10 TCGA-A6-3809-11A-01W-0995-10 g.chr7:102964991_102964992insT c.590_591insA c.(589-591)aatfs p.N197fs COADREAD 7 102967024 102967024 + Missense_Mutation SNP C C T TCGA-AG-3892-01A-01W-1073-09 TCGA-AG-3892-10A-01W-1073-09 g.chr7:102967024C>T c.538G>A c.(538-540)Gaa>Aaa p.E180K COADREAD 7 102982334 102982335 + Frame_Shift_Del DEL TC TC - TCGA-AG-A025-01A-01W-A00E-09 TCGA-AG-A025-10A-01W-A00E-09 g.chr7:102982334_102982335delTC c.131_132delGA c.(130-132)agafs p.R44fs COADREAD 7 102985031 102985031 + Silent SNP G G A TCGA-AA-3833-01A-01W-0900-09 TCGA-AA-3833-10A-01W-0900-09 g.chr7:102985031G>A c.39C>T c.(37-39)acC>acT p.T13T ESCA 7 102957429 102957429 + Silent SNP C C T TCGA-LN-A7HX-01A-11D-A33E-09 TCGA-LN-A7HX-10A-01D-A33H-09 g.chr7:102957429C>T c.1275G>A c.(1273-1275)gaG>gaA p.E425E ESCA 7 102964049 102964051 + In_Frame_Del DEL CTG CTG - TCGA-R6-A6XG-01B-11D-A33E-09 TCGA-R6-A6XG-10A-01D-A33H-09 g.chr7:102964049_102964051delCTG c.713_715delCAG c.(712-717)gcagaa>gaa p.A238del ESCA 7 102964051 102964052 + Missense_Mutation DNP GC GC TT TCGA-R6-A6XG-01B-11D-A33E-09 TCGA-R6-A6XG-10A-01D-A33H-09 g.chr7:102964051_102964052GC>TT c.712_713GC>AA c.(712-714)GCa>AAa p.A238K GBM 7 102953526 102953526 + Silent SNP A A G TCGA-06-0241-01A-02D-1491-08 TCGA-06-0241-10A-01D-1491-08 g.chr7:102953526A>G c.1659T>C c.(1657-1659)ccT>ccC p.P553P GBMLGG 7 102953526 102953526 + Silent SNP A A G TCGA-06-0241-01A-02D-1491-08 TCGA-06-0241-10A-01D-1491-08 g.chr7:102953526A>G c.1659T>C c.(1657-1659)ccT>ccC p.P553P GBMLGG 7 102956235 102956235 + Missense_Mutation SNP C C T TCGA-DU-6392-01A-11D-1705-08 TCGA-DU-6392-10A-01D-1705-08 g.chr7:102956235C>T c.1612G>A c.(1612-1614)Gca>Aca p.A538T GBMLGG 7 102957362 102957362 + Missense_Mutation SNP C C T TCGA-E1-A7Z3-01A-11D-A34J-08 TCGA-E1-A7Z3-10A-01D-A34M-08 g.chr7:102957362C>T c.1342G>A c.(1342-1344)Gga>Aga p.G448R HNSC 7 102953441 102953441 + Missense_Mutation SNP C C T TCGA-T3-A92M-01A-31D-A391-08 TCGA-T3-A92M-10A-01D-A394-08 g.chr7:102953441C>T c.1744G>A c.(1744-1746)Gaa>Aaa p.E582K HNSC 7 102953456 102953456 + Missense_Mutation SNP A A G TCGA-CN-4735-01A-01D-1434-08 TCGA-CN-4735-10A-01D-1434-08 g.chr7:102953456A>G c.1729T>C c.(1729-1731)Tgg>Cgg p.W577R HNSC 7 102956305 102956305 + Frame_Shift_Del DEL T T - TCGA-CN-A63W-01A-11D-A30E-08 TCGA-CN-A63W-10A-01D-A30H-08 g.chr7:102956305delT c.1542delA c.(1540-1542)aaafs p.K514fs HNSC 7 102963025 102963025 + Missense_Mutation SNP G G A TCGA-CV-7568-01A-11D-2229-08 TCGA-CV-7568-10A-01D-2229-08 g.chr7:102963025G>A c.866C>T c.(865-867)gCc>gTc p.A289V HNSC 7 102968144 102968144 + Missense_Mutation SNP A A G TCGA-BB-A5HY-01A-11D-A28R-08 TCGA-BB-A5HY-10A-01D-A28U-08 g.chr7:102968144A>G c.389T>C c.(388-390)aTa>aCa p.I130T HNSC 7 102982244 102982244 + Silent SNP G G A TCGA-CV-5436-01A-01D-1512-08 TCGA-CV-5436-10A-01D-1870-08 g.chr7:102982244G>A c.222C>T c.(220-222)ccC>ccT p.P74P KIPAN 7 102960089 102960089 + Silent SNP T T A TCGA-BP-4971-01A-01D-1462-08 TCGA-BP-4971-11A-01D-1462-08 g.chr7:102960089T>A c.1209A>T c.(1207-1209)acA>acT p.T403T KIPAN 7 102963052 102963053 + Nonsense_Mutation DNP AT AT TA TCGA-EV-5901-01A-11D-1589-08 TCGA-EV-5901-10A-01D-1589-08 g.chr7:102963052_102963053AT>TA c.838_839AT>TA c.(838-840)ATa>TAa p.I280* KIPAN 7 102982243 102982243 + Missense_Mutation SNP T T C TCGA-BP-4963-01A-01D-1462-08 TCGA-BP-4963-11A-01D-1462-08 g.chr7:102982243T>C c.223A>G c.(223-225)Atg>Gtg p.M75V KIRC 7 102960089 102960089 + Silent SNP T T A TCGA-BP-4971-01A-01D-1462-08 TCGA-BP-4971-11A-01D-1462-08 g.chr7:102960089T>A c.1209A>T c.(1207-1209)acA>acT p.T403T KIRC 7 102982243 102982243 + Missense_Mutation SNP T T C TCGA-BP-4963-01A-01D-1462-08 TCGA-BP-4963-11A-01D-1462-08 g.chr7:102982243T>C c.223A>G c.(223-225)Atg>Gtg p.M75V KIRP 7 102963052 102963053 + Nonsense_Mutation DNP AT AT TA TCGA-EV-5901-01A-11D-1589-08 TCGA-EV-5901-10A-01D-1589-08 g.chr7:102963052_102963053AT>TA c.838_839AT>TA c.(838-840)ATa>TAa p.I280* LGG 7 102956235 102956235 + Missense_Mutation SNP C C T TCGA-DU-6392-01A-11D-1705-08 TCGA-DU-6392-10A-01D-1705-08 g.chr7:102956235C>T c.1612G>A c.(1612-1614)Gca>Aca p.A538T LGG 7 102957362 102957362 + Missense_Mutation SNP C C T TCGA-E1-A7Z3-01A-11D-A34J-08 TCGA-E1-A7Z3-10A-01D-A34M-08 g.chr7:102957362C>T c.1342G>A c.(1342-1344)Gga>Aga p.G448R LIHC 7 102953436 102953436 + Silent SNP C C T TCGA-LG-A6GG-01A-11D-A30V-10 TCGA-LG-A6GG-10A-01D-A30V-10 g.chr7:102953436C>T c.1749G>A c.(1747-1749)gcG>gcA p.A583A LIHC 7 102953447 102953447 + Frame_Shift_Del DEL T T - TCGA-4R-AA8I-01A-11D-A382-10 TCGA-4R-AA8I-10B-01D-A385-10 g.chr7:102953447delT c.1738delA c.(1738-1740)atafs p.I580fs LIHC 7 102953447 102953447 + Frame_Shift_Del DEL T T - TCGA-DD-A3A0-01A-11D-A20W-10 TCGA-DD-A3A0-11A-11D-A20W-10 g.chr7:102953447delT c.1738delA c.(1738-1740)atafs p.I580fs LIHC 7 102957429 102957429 + Silent SNP C C T TCGA-DD-A3A1-01A-11D-A20W-10 TCGA-DD-A3A1-11A-11D-A20W-10 g.chr7:102957429C>T c.1275G>A c.(1273-1275)gaG>gaA p.E425E LUAD 7 102956536 102956536 + Splice_Site SNP C C G TCGA-49-4512-01A-21D-1855-08 TCGA-49-4512-11A-01D-1855-08 g.chr7:102956536C>G c.e14-1 LUAD 7 102957423 102957423 + Silent SNP C C T TCGA-17-Z028-01A-01W-0746-08 TCGA-17-Z028-11A-01W-0746-08 g.chr7:102957423C>T c.1281G>A c.(1279-1281)gaG>gaA p.E427E LUAD 7 102957425 102957425 + Missense_Mutation SNP C C T TCGA-17-Z028-01A-01W-0746-08 TCGA-17-Z028-11A-01W-0746-08 g.chr7:102957425C>T c.1279G>A c.(1279-1281)Gag>Aag p.E427K LUAD 7 102960065 102960065 + Silent SNP C C T TCGA-NJ-A4YP-01A-11D-A25L-08 TCGA-NJ-A4YP-10A-01D-A25L-08 g.chr7:102960065C>T c.1233G>A c.(1231-1233)ttG>ttA p.L411L LUAD 7 102962386 102962386 + Missense_Mutation SNP G G A TCGA-MP-A4TI-01A-21D-A24P-08 TCGA-MP-A4TI-10A-01D-A24P-08 g.chr7:102962386G>A c.1076C>T c.(1075-1077)tCa>tTa p.S359L LUAD 7 102963026 102963026 + Missense_Mutation SNP C C T TCGA-05-4396-01A-21D-1855-08 TCGA-05-4396-10A-01D-1855-08 g.chr7:102963026C>T c.865G>A c.(865-867)Gcc>Acc p.A289T LUAD 7 102967069 102967069 + Missense_Mutation SNP C C G TCGA-55-8096-01A-11D-2238-08 TCGA-55-8096-10A-01D-2238-08 g.chr7:102967069C>G c.493G>C c.(493-495)Gat>Cat p.D165H LUAD 7 102968127 102968127 + Missense_Mutation SNP C C G TCGA-05-4395-01A-01D-1265-08 TCGA-05-4395-10A-01D-1265-08 g.chr7:102968127C>G c.406G>C c.(406-408)Gac>Cac p.D136H PAAD 7 102960230 102960230 + Missense_Mutation SNP T T G TCGA-OE-A75W-01A-12D-A32N-08 TCGA-OE-A75W-10A-01D-A32N-08 g.chr7:102960230T>G c.1145A>C c.(1144-1146)aAa>aCa p.K382T PAAD 7 102967077 102967077 + Missense_Mutation SNP G G T TCGA-IB-7651-01A-11D-2154-08 TCGA-IB-7651-10A-01D-2154-08 g.chr7:102967077G>T c.485C>A c.(484-486)cCt>cAt p.P162H PRAD 7 102953049 102953049 + Silent SNP T T C TCGA-EJ-A8FU-01A-11D-A364-08 TCGA-EJ-A8FU-10A-01D-A362-08 g.chr7:102953049T>C c.1833A>G c.(1831-1833)gaA>gaG p.E611E PRAD 7 102964991 102964992 + Frame_Shift_Ins INS - - T TCGA-EJ-7782-01A-11D-2114-08 TCGA-EJ-7782-11A-01D-2114-08 g.chr7:102964991_102964992insT c.590_591insA c.(589-591)aatfs p.N197fs PRAD 7 102967014 102967014 + Missense_Mutation SNP G G T TCGA-ZG-A9L9-01A-11D-A41K-08 TCGA-ZG-A9L9-10A-01D-A41N-08 g.chr7:102967014G>T c.548C>A c.(547-549)aCc>aAc p.T183N READ 7 102957318 102957318 + Silent SNP T T C TCGA-AG-3892-01A-01W-1073-09 TCGA-AG-3892-10A-01W-1073-09 g.chr7:102957318T>C c.1386A>G c.(1384-1386)ctA>ctG p.L462L READ 7 102967024 102967024 + Missense_Mutation SNP C C T TCGA-AG-3892-01A-01W-1073-09 TCGA-AG-3892-10A-01W-1073-09 g.chr7:102967024C>T c.538G>A c.(538-540)Gaa>Aaa p.E180K READ 7 102982334 102982335 + Frame_Shift_Del DEL TC TC - TCGA-AG-A025-01A-01W-A00E-09 TCGA-AG-A025-10A-01W-A00E-09 g.chr7:102982334_102982335delTC c.131_132delGA c.(130-132)agafs p.R44fs SKCM 7 102956221 102956221 + Silent SNP T T C TCGA-EE-A3AG-06A-31D-A196-08 TCGA-EE-A3AG-10A-01D-A198-08 g.chr7:102956221T>C c.1626A>G c.(1624-1626)gaA>gaG p.E542E SKCM 7 102956276 102956276 + Missense_Mutation SNP T T A TCGA-EE-A29G-06A-12D-A196-08 TCGA-EE-A29G-10A-01D-A198-08 g.chr7:102956276T>A c.1571A>T c.(1570-1572)aAg>aTg p.K524M SKCM 7 102967028 102967028 + Silent SNP G G A TCGA-GF-A3OT-06A-23D-A23B-08 TCGA-GF-A3OT-10A-01D-A23B-08 g.chr7:102967028G>A c.534C>T c.(532-534)ttC>ttT p.F178F

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 7 102988224 102988224 single base substitution C T upstream_gene_variant BRCA-EU 7 102949066 102949066 deletion of <=200bp A - downstream_gene_variant BRCA-EU 7 102949066 102949066 insertion of <=200bp - A downstream_gene_variant BRCA-EU 7 102949403 102949403 single base substitution G A downstream_gene_variant BRCA-EU 7 102949926 102949926 deletion of <=200bp T - downstream_gene_variant BRCA-EU 7 102950656 102950656 single base substitution G A downstream_gene_variant BRCA-EU 7 102953282 102953282 single base substitution G C downstream_gene_variant BRCA-EU 7 102953282 102953282 single base substitution G C exon_variant BRCA-EU 7 102953282 102953282 single base substitution G C intron_variant BRCA-EU 7 102953516 102953516 single base substitution C T downstream_gene_variant BRCA-EU 7 102953516 102953516 single base substitution C T exon_variant BRCA-EU 7 102953516 102953516 single base substitution C T missense_variant E504K 1510G>A BRCA-EU 7 102953516 102953516 single base substitution C T missense_variant E557K 1669G>A BRCA-EU 7 102955169 102955169 single base substitution T C downstream_gene_variant BRCA-EU 7 102955169 102955169 single base substitution T C intron_variant BRCA-EU 7 102957112 102957112 single base substitution A G downstream_gene_variant BRCA-EU 7 102957112 102957112 single base substitution A G exon_variant BRCA-EU 7 102957112 102957112 single base substitution A G intron_variant BRCA-EU 7 102957346 102957346 single base substitution T C exon_variant BRCA-EU 7 102957346 102957346 single base substitution T C missense_variant N400S 1199A>G BRCA-EU 7 102957346 102957346 single base substitution T C missense_variant N453S 1358A>G BRCA-EU 7 102957566 102957566 single base substitution C T exon_variant BRCA-EU 7 102957566 102957566 single base substitution C T intron_variant BRCA-EU 7 102957834 102957834 single base substitution A C intron_variant BRCA-EU 7 102957834 102957834 single base substitution A C upstream_gene_variant BRCA-EU 7 102960393 102960393 deletion of <=200bp A - downstream_gene_variant BRCA-EU 7 102960393 102960393 deletion of <=200bp A - intron_variant BRCA-EU 7 102960393 102960393 deletion of <=200bp A - upstream_gene_variant BRCA-EU 7 102961555 102961555 single base substitution G A downstream_gene_variant BRCA-EU 7 102961555 102961555 single base substitution G A intron_variant BRCA-EU 7 102961555 102961555 single base substitution G A upstream_gene_variant BRCA-EU 7 102961983 102961983 single base substitution A C downstream_gene_variant BRCA-EU 7 102961983 102961983 single base substitution A C intron_variant BRCA-EU 7 102961983 102961983 single base substitution A C upstream_gene_variant BRCA-EU 7 102962294 102962294 insertion of <=200bp - A downstream_gene_variant BRCA-EU 7 102962294 102962294 insertion of <=200bp - A intron_variant BRCA-EU 7 102962294 102962294 insertion of <=200bp - A upstream_gene_variant BRCA-EU 7 102962870 102962870 deletion of <=200bp T - downstream_gene_variant BRCA-EU 7 102962870 102962870 deletion of <=200bp T - intron_variant BRCA-EU 7 102962870 102962870 deletion of <=200bp T - upstream_gene_variant BRCA-EU 7 102963549 102963549 single base substitution C G downstream_gene_variant BRCA-EU 7 102963549 102963549 single base substitution C G intron_variant BRCA-EU 7 102963549 102963549 single base substitution C G upstream_gene_variant BRCA-EU 7 102963731 102963731 single base substitution A G downstream_gene_variant BRCA-EU 7 102963731 102963731 single base substitution A G intron_variant BRCA-EU 7 102963731 102963731 single base substitution A G upstream_gene_variant BRCA-EU 7 102964889 102964889 single base substitution T A intron_variant BRCA-EU 7 102964889 102964889 single base substitution T A upstream_gene_variant BRCA-EU 7 102966494 102966494 single base substitution C T intron_variant BRCA-EU 7 102966494 102966494 single base substitution C T upstream_gene_variant BRCA-EU 7 102969373 102969373 single base substitution C G intron_variant BRCA-EU 7 102969373 102969373 single base substitution C G upstream_gene_variant BRCA-EU 7 102970018 102970018 single base substitution A C intron_variant BRCA-EU 7 102970018 102970018 single base substitution A C upstream_gene_variant BRCA-EU 7 102970169 102970169 single base substitution T C intron_variant BRCA-EU 7 102970169 102970169 single base substitution T C upstream_gene_variant BRCA-EU 7 102971353 102971353 single base substitution C G downstream_gene_variant BRCA-EU 7 102971353 102971353 single base substitution C G intron_variant BRCA-EU 7 102972643 102972643 single base substitution G A downstream_gene_variant BRCA-EU 7 102972643 102972643 single base substitution G A intron_variant BRCA-EU 7 102974115 102974115 single base substitution C G downstream_gene_variant BRCA-EU 7 102974115 102974115 single base substitution C G intron_variant BRCA-EU 7 102975053 102975053 single base substitution A T downstream_gene_variant BRCA-EU 7 102975053 102975053 single base substitution A T intron_variant BRCA-EU 7 102975365 102975365 single base substitution C A downstream_gene_variant BRCA-EU 7 102975365 102975365 single base substitution C A intron_variant BRCA-EU 7 102975955 102975955 insertion of <=200bp - A 3_prime_UTR_variant BRCA-EU 7 102975955 102975955 insertion of <=200bp - A intron_variant BRCA-EU 7 102976703 102976703 single base substitution C T 3_prime_UTR_variant BRCA-EU 7 102976703 102976703 single base substitution C T intron_variant BRCA-EU 7 102977543 102977543 single base substitution C T 3_prime_UTR_variant BRCA-EU 7 102977543 102977543 single base substitution C T intron_variant BRCA-EU 7 102977842 102977844 deletion of <=200bp AAT - 3_prime_UTR_variant BRCA-EU 7 102977842 102977844 deletion of <=200bp AAT - intron_variant BRCA-EU 7 102978014 102978014 single base substitution G A 3_prime_UTR_variant BRCA-EU 7 102978014 102978014 single base substitution G A intron_variant BRCA-EU 7 102978055 102978055 single base substitution G T 3_prime_UTR_variant BRCA-EU 7 102978055 102978055 single base substitution G T intron_variant BRCA-EU 7 102978928 102978928 single base substitution G C intron_variant BRCA-EU 7 102981229 102981229 single base substitution G C intron_variant BRCA-EU 7 102981665 102981665 single base substitution G C intron_variant BRCA-EU 7 102982948 102982948 single base substitution C G intron_variant BRCA-EU 7 102982948 102982948 single base substitution C G upstream_gene_variant BRCA-EU 7 102986055 102986055 insertion of <=200bp - TA upstream_gene_variant BRCA-EU 7 102986741 102986741 single base substitution A G upstream_gene_variant BRCA-EU 7 102987519 102987519 single base substitution T A upstream_gene_variant BRCA-EU 7 102988371 102988371 single base substitution G T upstream_gene_variant BRCA-EU 7 102988660 102988660 single base substitution C T upstream_gene_variant BRCA-EU 7 102988699 102988699 single base substitution C T upstream_gene_variant BRCA-EU 7 102988812 102988812 deletion of <=200bp T - upstream_gene_variant BRCA-EU 7 102990042 102990042 deletion of <=200bp C - upstream_gene_variant BRCA-EU 7 102990042 102990042 insertion of <=200bp - C upstream_gene_variant BRCA-EU 7 102990122 102990122 single base substitution C T upstream_gene_variant BRCA-FR 7 102957455 102957455 single base substitution C A exon_variant BRCA-FR 7 102957455 102957455 single base substitution C A stop_gained E364* 1090G>T BRCA-FR 7 102957455 102957455 single base substitution C A stop_gained E417* 1249G>T BRCA-FR 7 102962042 102962042 single base substitution C T downstream_gene_variant BRCA-FR 7 102962042 102962042 single base substitution C T intron_variant BRCA-FR 7 102962042 102962042 single base substitution C T upstream_gene_variant BRCA-FR 7 102963731 102963731 single base substitution A G downstream_gene_variant BRCA-FR 7 102963731 102963731 single base substitution A G intron_variant BRCA-FR 7 102963731 102963731 single base substitution A G upstream_gene_variant BRCA-FR 7 102975365 102975365 single base substitution C A downstream_gene_variant BRCA-FR 7 102975365 102975365 single base substitution C A intron_variant BRCA-FR 7 102978928 102978928 single base substitution G C intron_variant BRCA-FR 7 102988371 102988371 single base substitution G T upstream_gene_variant BRCA-UK 7 102963416 102963416 single base substitution G C downstream_gene_variant BRCA-UK 7 102963416 102963416 single base substitution G C intron_variant BRCA-UK 7 102963416 102963416 single base substitution G C upstream_gene_variant BRCA-UK 7 102973407 102973407 single base substitution C G downstream_gene_variant BRCA-UK 7 102973407 102973407 single base substitution C G intron_variant BRCA-US 7 102956214 102956214 single base substitution C G downstream_gene_variant BRCA-US 7 102956214 102956214 single base substitution C G exon_variant BRCA-US 7 102956214 102956214 single base substitution C G missense_variant E492Q 1474G>C BRCA-US 7 102956214 102956214 single base substitution C G missense_variant E545Q 1633G>C BRCA-US 7 102957367 102957367 single base substitution C A exon_variant BRCA-US 7 102957367 102957367 single base substitution C A missense_variant G393V 1178G>T BRCA-US 7 102957367 102957367 single base substitution C A missense_variant G446V 1337G>T BRCA-US 7 102960101 102960102 deletion of <=200bp GA - downstream_gene_variant BRCA-US 7 102960101 102960102 deletion of <=200bp GA - exon_variant BRCA-US 7 102960101 102960102 deletion of <=200bp GA - frameshift_variant L399 BRCA-US 7 102960101 102960102 deletion of <=200bp GA - intron_variant BRCA-US 7 102960101 102960102 deletion of <=200bp GA - upstream_gene_variant BRCA-US 7 102982252 102982252 single base substitution C G 5_prime_UTR_variant BRCA-US 7 102982252 102982252 single base substitution C G exon_variant BRCA-US 7 102982252 102982252 single base substitution C G missense_variant E60Q 178G>C BRCA-US 7 102982252 102982252 single base substitution C G missense_variant E72Q 214G>C BTCA-JP 7 102952524 102952524 single base substitution C T downstream_gene_variant BTCA-JP 7 102956115 102956115 single base substitution T G downstream_gene_variant BTCA-JP 7 102956115 102956115 single base substitution T G intron_variant BTCA-JP 7 102961277 102961277 single base substitution C T downstream_gene_variant BTCA-JP 7 102961277 102961277 single base substitution C T intron_variant BTCA-JP 7 102961277 102961277 single base substitution C T upstream_gene_variant BTCA-JP 7 102962533 102962533 deletion of <=200bp A - downstream_gene_variant BTCA-JP 7 102962533 102962533 deletion of <=200bp A - splice_region_variant BTCA-JP 7 102962533 102962533 deletion of <=200bp A - upstream_gene_variant BTCA-JP 7 102964001 102964001 single base substitution G T downstream_gene_variant BTCA-JP 7 102964001 102964001 single base substitution G T intron_variant BTCA-JP 7 102964001 102964001 single base substitution G T upstream_gene_variant BTCA-JP 7 102967099 102967099 single base substitution G A 3_prime_UTR_variant BTCA-JP 7 102967099 102967099 single base substitution G A exon_variant BTCA-JP 7 102967099 102967099 single base substitution G A stop_gained R143* 427C>T BTCA-JP 7 102967099 102967099 single base substitution G A stop_gained R155* 463C>T BTCA-JP 7 102967099 102967099 single base substitution G A stop_gained R81* 241C>T BTCA-JP 7 102967099 102967099 single base substitution G A upstream_gene_variant BTCA-JP 7 102967609 102967609 single base substitution A G intron_variant BTCA-JP 7 102967609 102967609 single base substitution A G upstream_gene_variant BTCA-JP 7 102968157 102968157 single base substitution C T exon_variant BTCA-JP 7 102968157 102968157 single base substitution C T missense_variant A114T 340G>A BTCA-JP 7 102968157 102968157 single base substitution C T missense_variant A126T 376G>A BTCA-JP 7 102968157 102968157 single base substitution C T missense_variant A52T 154G>A BTCA-JP 7 102968157 102968157 single base substitution C T upstream_gene_variant BTCA-JP 7 102978183 102978183 single base substitution G A missense_variant H111Y 331C>T BTCA-JP 7 102978183 102978183 single base substitution G A missense_variant H37Y 109C>T BTCA-JP 7 102978183 102978183 single base substitution G A missense_variant H99Y 295C>T BTCA-JP 7 102978183 102978183 single base substitution G A missense_variant R111C 331C>T BTCA-JP 7 102978183 102978183 single base substitution G A splice_region_variant BTCA-JP 7 102984966 102984966 single base substitution A T intron_variant BTCA-JP 7 102984966 102984966 single base substitution A T upstream_gene_variant BTCA-JP 7 102984997 102984997 single base substitution G A intron_variant BTCA-JP 7 102984997 102984997 single base substitution G A upstream_gene_variant CESC-US 7 102956536 102956536 single base substitution C T downstream_gene_variant CESC-US 7 102956536 102956536 single base substitution C T exon_variant CESC-US 7 102956536 102956536 single base substitution C T splice_acceptor_variant CESC-US 7 102962392 102962392 single base substitution C A downstream_gene_variant CESC-US 7 102962392 102962392 single base substitution C A exon_variant CESC-US 7 102962392 102962392 single base substitution C A missense_variant R357L 1070G>T CESC-US 7 102962392 102962392 single base substitution C A upstream_gene_variant CESC-US 7 102988206 102988206 single base substitution G T upstream_gene_variant CLLE-ES 7 102978643 102978643 single base substitution G A intron_variant COAD-US 7 102949503 102949503 single base substitution G A downstream_gene_variant COAD-US 7 102952123 102952123 single base substitution G T downstream_gene_variant COAD-US 7 102953022 102953022 single base substitution C A downstream_gene_variant COAD-US 7 102953022 102953022 single base substitution C A exon_variant COAD-US 7 102953022 102953022 single base substitution C A missense_variant K567N 1701G>T COAD-US 7 102953022 102953022 single base substitution C A missense_variant K620N 1860G>T COAD-US 7 102957291 102957291 single base substitution A G exon_variant COAD-US 7 102957291 102957291 single base substitution A G synonymous_variant A418A 1254T>C COAD-US 7 102957291 102957291 single base substitution A G synonymous_variant A471A 1413T>C COAD-US 7 102962421 102962421 deletion of <=200bp T - downstream_gene_variant COAD-US 7 102962421 102962421 deletion of <=200bp T - exon_variant COAD-US 7 102962421 102962421 deletion of <=200bp T - frameshift_variant K347 COAD-US 7 102962421 102962421 deletion of <=200bp T - upstream_gene_variant COAD-US 7 102963177 102963177 single base substitution C T downstream_gene_variant COAD-US 7 102963177 102963177 single base substitution C T exon_variant COAD-US 7 102963177 102963177 single base substitution C T missense_variant E188K 562G>A COAD-US 7 102963177 102963177 single base substitution C T missense_variant E223K 667G>A COAD-US 7 102963177 102963177 single base substitution C T missense_variant E262K 784G>A COAD-US 7 102963177 102963177 single base substitution C T upstream_gene_variant COAD-US 7 102964935 102964935 single base substitution G T 3_prime_UTR_variant COAD-US 7 102964935 102964935 single base substitution G T exon_variant COAD-US 7 102964935 102964935 single base substitution G T intron_variant COAD-US 7 102964935 102964935 single base substitution G T missense_variant S142Y 425C>A COAD-US 7 102964935 102964935 single base substitution G T missense_variant S216Y 647C>A COAD-US 7 102964935 102964935 single base substitution G T upstream_gene_variant COCA-CN 7 102950794 102950794 single base substitution T C downstream_gene_variant COCA-CN 7 102952918 102952918 single base substitution G A downstream_gene_variant COCA-CN 7 102953166 102953166 single base substitution G T downstream_gene_variant COCA-CN 7 102953166 102953166 single base substitution G T exon_variant COCA-CN 7 102953166 102953166 single base substitution G T intron_variant COCA-CN 7 102957453 102957453 single base substitution T G exon_variant COCA-CN 7 102957453 102957453 single base substitution T G missense_variant E364D 1092A>C COCA-CN 7 102957453 102957453 single base substitution T G missense_variant E417D 1251A>C COCA-CN 7 102962877 102962877 single base substitution T A downstream_gene_variant COCA-CN 7 102962877 102962877 single base substitution T A intron_variant COCA-CN 7 102962877 102962877 single base substitution T A upstream_gene_variant COCA-CN 7 102964015 102964015 single base substitution C A downstream_gene_variant COCA-CN 7 102964015 102964015 single base substitution C A intron_variant COCA-CN 7 102964015 102964015 single base substitution C A upstream_gene_variant COCA-CN 7 102966969 102966969 single base substitution A C intron_variant COCA-CN 7 102966969 102966969 single base substitution A C upstream_gene_variant COCA-CN 7 102973794 102973794 single base substitution C G downstream_gene_variant COCA-CN 7 102973794 102973794 single base substitution C G intron_variant COCA-CN 7 102988243 102988243 single base substitution G A upstream_gene_variant ESAD-UK 7 102950450 102950450 single base substitution G T downstream_gene_variant ESAD-UK 7 102951195 102951195 single base substitution G T downstream_gene_variant ESAD-UK 7 102953624 102953624 single base substitution C T downstream_gene_variant ESAD-UK 7 102953624 102953624 single base substitution C T intron_variant ESAD-UK 7 102956230 102956230 single base substitution C T downstream_gene_variant ESAD-UK 7 102956230 102956230 single base substitution C T exon_variant ESAD-UK 7 102956230 102956230 single base substitution C T synonymous_variant T486T 1458G>A ESAD-UK 7 102956230 102956230 single base substitution C T synonymous_variant T539T 1617G>A ESAD-UK 7 102957968 102957968 single base substitution C A intron_variant ESAD-UK 7 102957968 102957968 single base substitution C A upstream_gene_variant ESAD-UK 7 102958623 102958623 deletion of <=200bp T - downstream_gene_variant ESAD-UK 7 102958623 102958623 deletion of <=200bp T - intron_variant ESAD-UK 7 102958623 102958623 deletion of <=200bp T - upstream_gene_variant ESAD-UK 7 102959694 102959694 single base substitution A C downstream_gene_variant ESAD-UK 7 102959694 102959694 single base substitution A C intron_variant ESAD-UK 7 102959694 102959694 single base substitution A C upstream_gene_variant ESAD-UK 7 102960430 102960430 single base substitution G C downstream_gene_variant ESAD-UK 7 102960430 102960430 single base substitution G C intron_variant ESAD-UK 7 102960430 102960430 single base substitution G C upstream_gene_variant ESAD-UK 7 102962570 102962570 single base substitution A G downstream_gene_variant ESAD-UK 7 102962570 102962570 single base substitution A G intron_variant ESAD-UK 7 102962570 102962570 single base substitution A G upstream_gene_variant ESAD-UK 7 102962870 102962870 insertion of <=200bp - T downstream_gene_variant ESAD-UK 7 102962870 102962870 insertion of <=200bp - T intron_variant ESAD-UK 7 102962870 102962870 insertion of <=200bp - T upstream_gene_variant ESAD-UK 7 102964699 102964699 single base substitution C G intron_variant ESAD-UK 7 102964699 102964699 single base substitution C G upstream_gene_variant ESAD-UK 7 102964739 102964739 single base substitution G T intron_variant ESAD-UK 7 102964739 102964739 single base substitution G T upstream_gene_variant ESAD-UK 7 102968023 102968023 single base substitution T A intron_variant ESAD-UK 7 102968023 102968023 single base substitution T A upstream_gene_variant ESAD-UK 7 102973093 102973093 single base substitution G A downstream_gene_variant ESAD-UK 7 102973093 102973093 single base substitution G A intron_variant ESAD-UK 7 102973918 102973918 single base substitution T C downstream_gene_variant ESAD-UK 7 102973918 102973918 single base substitution T C intron_variant ESAD-UK 7 102974520 102974520 single base substitution C T downstream_gene_variant ESAD-UK 7 102974520 102974520 single base substitution C T intron_variant ESAD-UK 7 102979218 102979218 single base substitution G A intron_variant ESAD-UK 7 102981048 102981048 single base substitution T A intron_variant ESAD-UK 7 102983796 102983796 deletion of <=200bp T - intron_variant ESAD-UK 7 102983796 102983796 deletion of <=200bp T - upstream_gene_variant ESAD-UK 7 102984950 102984950 single base substitution G C intron_variant ESAD-UK 7 102984950 102984950 single base substitution G C upstream_gene_variant ESAD-UK 7 102986055 102986055 insertion of <=200bp - TA upstream_gene_variant ESAD-UK 7 102986357 102986357 single base substitution G T upstream_gene_variant ESAD-UK 7 102986373 102986373 single base substitution C T upstream_gene_variant ESAD-UK 7 102986732 102986732 single base substitution A G upstream_gene_variant ESAD-UK 7 102988865 102988865 single base substitution A T upstream_gene_variant GBM-US 7 102949403 102949403 single base substitution G A downstream_gene_variant GBM-US 7 102953526 102953526 single base substitution A G downstream_gene_variant GBM-US 7 102953526 102953526 single base substitution A G exon_variant GBM-US 7 102953526 102953526 single base substitution A G synonymous_variant P500P 1500T>C GBM-US 7 102953526 102953526 single base substitution A G synonymous_variant P553P 1659T>C KIRC-US 7 102960089 102960089 single base substitution T A downstream_gene_variant KIRC-US 7 102960089 102960089 single base substitution T A exon_variant KIRC-US 7 102960089 102960089 single base substitution T A intron_variant KIRC-US 7 102960089 102960089 single base substitution T A synonymous_variant T403T 1209A>T KIRC-US 7 102960089 102960089 single base substitution T A upstream_gene_variant KIRC-US 7 102982243 102982243 single base substitution T C exon_variant KIRC-US 7 102982243 102982243 single base substitution T C missense_variant M63V 187A>G KIRC-US 7 102982243 102982243 single base substitution T C missense_variant M75V 223A>G KIRC-US 7 102982243 102982243 single base substitution T C start_lost M1V 1A>G KIRP-US 7 102952636 102952636 single base substitution C T downstream_gene_variant KIRP-US 7 102963052 102963052 single base substitution A T downstream_gene_variant KIRP-US 7 102963052 102963052 single base substitution A T exon_variant KIRP-US 7 102963052 102963052 single base substitution A T missense_variant I241K 722T>A KIRP-US 7 102963052 102963052 single base substitution A T missense_variant I280K 839T>A KIRP-US 7 102963052 102963052 single base substitution A T upstream_gene_variant KIRP-US 7 102963053 102963053 single base substitution T A downstream_gene_variant KIRP-US 7 102963053 102963053 single base substitution T A exon_variant KIRP-US 7 102963053 102963053 single base substitution T A missense_variant I241L 721A>T KIRP-US 7 102963053 102963053 single base substitution T A missense_variant I280L 838A>T KIRP-US 7 102963053 102963053 single base substitution T A upstream_gene_variant LAML-KR 7 102988098 102988098 single base substitution A C upstream_gene_variant LGG-US 7 102948108 102948109 deletion of <=200bp AA - downstream_gene_variant LICA-CN 7 102962402 102962402 single base substitution G C downstream_gene_variant LICA-CN 7 102962402 102962402 single base substitution G C exon_variant LICA-CN 7 102962402 102962402 single base substitution G C missense_variant Q354E 1060C>G LICA-CN 7 102962402 102962402 single base substitution G C upstream_gene_variant LICA-FR 7 102948457 102948457 single base substitution T G downstream_gene_variant LICA-FR 7 102958213 102958213 single base substitution T G downstream_gene_variant LICA-FR 7 102958213 102958213 single base substitution T G intron_variant LICA-FR 7 102958213 102958213 single base substitution T G upstream_gene_variant LICA-FR 7 102962509 102962544 deletion of <=200bp TCTAATTCAGCTTGTCTTTGCTTTAAAAAAAGGGAG - downstream_gene_variant LICA-FR 7 102962509 102962544 deletion of <=200bp TCTAATTCAGCTTGTCTTTGCTTTAAAAAAAGGGAG - frameshift_variant KQRQAELE312 LICA-FR 7 102962509 102962544 deletion of <=200bp TCTAATTCAGCTTGTCTTTGCTTTAAAAAAAGGGAG - splice_acceptor_variant LICA-FR 7 102962509 102962544 deletion of <=200bp TCTAATTCAGCTTGTCTTTGCTTTAAAAAAAGGGAG - upstream_gene_variant LICA-FR 7 102964945 102964945 single base substitution T C 3_prime_UTR_variant LICA-FR 7 102964945 102964945 single base substitution T C exon_variant LICA-FR 7 102964945 102964945 single base substitution T C intron_variant LICA-FR 7 102964945 102964945 single base substitution T C missense_variant I139V 415A>G LICA-FR 7 102964945 102964945 single base substitution T C missense_variant I213V 637A>G LICA-FR 7 102964945 102964945 single base substitution T C upstream_gene_variant LICA-FR 7 102967116 102967116 single base substitution G C exon_variant LICA-FR 7 102967116 102967116 single base substitution G C missense_variant S137C 410C>G LICA-FR 7 102967116 102967116 single base substitution G C missense_variant S149C 446C>G LICA-FR 7 102967116 102967116 single base substitution G C missense_variant S75C 224C>G LICA-FR 7 102967116 102967116 single base substitution G C upstream_gene_variant LICA-FR 7 102987682 102987682 single base substitution T A upstream_gene_variant LIHC-US 7 102953436 102953436 single base substitution C T downstream_gene_variant LIHC-US 7 102953436 102953436 single base substitution C T exon_variant LIHC-US 7 102953436 102953436 single base substitution C T synonymous_variant A530A 1590G>A LIHC-US 7 102953436 102953436 single base substitution C T synonymous_variant A583A 1749G>A LIHC-US 7 102957429 102957429 single base substitution C T exon_variant LIHC-US 7 102957429 102957429 single base substitution C T synonymous_variant E372E 1116G>A LIHC-US 7 102957429 102957429 single base substitution C T synonymous_variant E425E 1275G>A LIHC-US 7 102988209 102988209 single base substitution G A upstream_gene_variant LIHC-US 7 102988211 102988211 single base substitution A C upstream_gene_variant LINC-JP 7 102949672 102949672 single base substitution A C downstream_gene_variant LINC-JP 7 102952198 102952198 single base substitution T G downstream_gene_variant LINC-JP 7 102953399 102953399 single base substitution A G downstream_gene_variant LINC-JP 7 102953399 102953399 single base substitution A G exon_variant LINC-JP 7 102953399 102953399 single base substitution A G missense_variant Y543H 1627T>C LINC-JP 7 102953399 102953399 single base substitution A G missense_variant Y596H 1786T>C LINC-JP 7 102957322 102957322 single base substitution A T exon_variant LINC-JP 7 102957322 102957322 single base substitution A T stop_gained L408* 1223T>A LINC-JP 7 102957322 102957322 single base substitution A T stop_gained L461* 1382T>A LINC-JP 7 102960343 102960343 single base substitution A G downstream_gene_variant LINC-JP 7 102960343 102960343 single base substitution A G intron_variant LINC-JP 7 102960343 102960343 single base substitution A G upstream_gene_variant LINC-JP 7 102962533 102962533 deletion of <=200bp A - downstream_gene_variant LINC-JP 7 102962533 102962533 deletion of <=200bp A - splice_region_variant LINC-JP 7 102962533 102962533 deletion of <=200bp A - upstream_gene_variant LINC-JP 7 102963143 102963143 single base substitution T G downstream_gene_variant LINC-JP 7 102963143 102963143 single base substitution T G exon_variant LINC-JP 7 102963143 102963143 single base substitution T G splice_region_variant LINC-JP 7 102963143 102963143 single base substitution T G upstream_gene_variant LINC-JP 7 102964485 102964485 single base substitution C G intron_variant LINC-JP 7 102964485 102964485 single base substitution C G upstream_gene_variant LINC-JP 7 102970979 102970979 single base substitution A C downstream_gene_variant LINC-JP 7 102970979 102970979 single base substitution A C intron_variant LINC-JP 7 102976977 102976977 single base substitution G C 3_prime_UTR_variant LINC-JP 7 102976977 102976977 single base substitution G C intron_variant LINC-JP 7 102979638 102979638 single base substitution A C intron_variant LINC-JP 7 102979655 102979655 single base substitution A G intron_variant LINC-JP 7 102988760 102988760 single base substitution A G upstream_gene_variant LIRI-JP 7 102948267 102948267 deletion of <=200bp A - downstream_gene_variant LIRI-JP 7 102949255 102949255 single base substitution G C downstream_gene_variant LIRI-JP 7 102949280 102949280 single base substitution A G downstream_gene_variant LIRI-JP 7 102952549 102952549 single base substitution A C downstream_gene_variant LIRI-JP 7 102954533 102954533 single base substitution A C downstream_gene_variant LIRI-JP 7 102954533 102954533 single base substitution A C intron_variant LIRI-JP 7 102955294 102955294 single base substitution A T downstream_gene_variant LIRI-JP 7 102955294 102955294 single base substitution A T intron_variant LIRI-JP 7 102955310 102955310 single base substitution A C downstream_gene_variant LIRI-JP 7 102955310 102955310 single base substitution A C intron_variant LIRI-JP 7 102956141 102956141 single base substitution T C downstream_gene_variant LIRI-JP 7 102956141 102956141 single base substitution T C intron_variant LIRI-JP 7 102957569 102957569 single base substitution T C exon_variant LIRI-JP 7 102957569 102957569 single base substitution T C intron_variant LIRI-JP 7 102957828 102957828 single base substitution T C intron_variant LIRI-JP 7 102957828 102957828 single base substitution T C upstream_gene_variant LIRI-JP 7 102957857 102957857 single base substitution A C intron_variant LIRI-JP 7 102957857 102957857 single base substitution A C upstream_gene_variant LIRI-JP 7 102958839 102958839 single base substitution T G downstream_gene_variant LIRI-JP 7 102958839 102958839 single base substitution T G intron_variant LIRI-JP 7 102958839 102958839 single base substitution T G upstream_gene_variant LIRI-JP 7 102958959 102958959 single base substitution T G downstream_gene_variant LIRI-JP 7 102958959 102958959 single base substitution T G intron_variant LIRI-JP 7 102958959 102958959 single base substitution T G upstream_gene_variant LIRI-JP 7 102959411 102959411 single base substitution T C downstream_gene_variant LIRI-JP 7 102959411 102959411 single base substitution T C intron_variant LIRI-JP 7 102959411 102959411 single base substitution T C upstream_gene_variant LIRI-JP 7 102959628 102959628 single base substitution A C downstream_gene_variant LIRI-JP 7 102959628 102959628 single base substitution A C intron_variant LIRI-JP 7 102959628 102959628 single base substitution A C upstream_gene_variant LIRI-JP 7 102961792 102961792 single base substitution T C downstream_gene_variant LIRI-JP 7 102961792 102961792 single base substitution T C intron_variant LIRI-JP 7 102961792 102961792 single base substitution T C upstream_gene_variant LIRI-JP 7 102963548 102963548 single base substitution T C downstream_gene_variant LIRI-JP 7 102963548 102963548 single base substitution T C intron_variant LIRI-JP 7 102963548 102963548 single base substitution T C upstream_gene_variant LIRI-JP 7 102964242 102964242 single base substitution T C intron_variant LIRI-JP 7 102964242 102964242 single base substitution T C upstream_gene_variant LIRI-JP 7 102964607 102964607 single base substitution T G intron_variant LIRI-JP 7 102964607 102964607 single base substitution T G upstream_gene_variant LIRI-JP 7 102964835 102964835 single base substitution G C intron_variant LIRI-JP 7 102964835 102964835 single base substitution G C upstream_gene_variant LIRI-JP 7 102965136 102965136 single base substitution T C exon_variant LIRI-JP 7 102965136 102965136 single base substitution T C intron_variant LIRI-JP 7 102965136 102965136 single base substitution T C upstream_gene_variant LIRI-JP 7 102967352 102967352 deletion of <=200bp A - intron_variant LIRI-JP 7 102967352 102967352 deletion of <=200bp A - upstream_gene_variant LIRI-JP 7 102970735 102970735 single base substitution T C downstream_gene_variant LIRI-JP 7 102970735 102970735 single base substitution T C intron_variant LIRI-JP 7 102971317 102971317 single base substitution C A downstream_gene_variant LIRI-JP 7 102971317 102971317 single base substitution C A intron_variant LIRI-JP 7 102972069 102972069 single base substitution T C downstream_gene_variant LIRI-JP 7 102972069 102972069 single base substitution T C intron_variant LIRI-JP 7 102974973 102974973 single base substitution A T downstream_gene_variant LIRI-JP 7 102974973 102974973 single base substitution A T intron_variant LIRI-JP 7 102976005 102976005 single base substitution G A 3_prime_UTR_variant LIRI-JP 7 102976005 102976005 single base substitution G A intron_variant LIRI-JP 7 102979413 102979413 single base substitution C G intron_variant LIRI-JP 7 102981266 102981266 single base substitution T C intron_variant LIRI-JP 7 102981690 102981690 single base substitution T C intron_variant LIRI-JP 7 102982510 102982510 deletion of <=200bp T - intron_variant LIRI-JP 7 102982510 102982510 deletion of <=200bp T - upstream_gene_variant LIRI-JP 7 102986639 102986639 single base substitution G A upstream_gene_variant LIRI-JP 7 102989511 102989511 single base substitution T G upstream_gene_variant LIRI-JP 7 102989963 102989963 single base substitution T C upstream_gene_variant LIRI-JP 7 102990295 102990295 single base substitution G T upstream_gene_variant LUSC-KR 7 102948569 102948569 single base substitution G T downstream_gene_variant LUSC-KR 7 102949070 102949070 single base substitution A T downstream_gene_variant LUSC-KR 7 102957453 102957453 single base substitution T A exon_variant LUSC-KR 7 102957453 102957453 single base substitution T A missense_variant E364D 1092A>T LUSC-KR 7 102957453 102957453 single base substitution T A missense_variant E417D 1251A>T LUSC-KR 7 102961131 102961131 single base substitution C T downstream_gene_variant LUSC-KR 7 102961131 102961131 single base substitution C T intron_variant LUSC-KR 7 102961131 102961131 single base substitution C T upstream_gene_variant LUSC-KR 7 102961177 102961177 single base substitution C G downstream_gene_variant LUSC-KR 7 102961177 102961177 single base substitution C G intron_variant LUSC-KR 7 102961177 102961177 single base substitution C G upstream_gene_variant LUSC-KR 7 102962917 102962917 single base substitution C T downstream_gene_variant LUSC-KR 7 102962917 102962917 single base substitution C T intron_variant LUSC-KR 7 102962917 102962917 single base substitution C T upstream_gene_variant LUSC-KR 7 102963719 102963719 single base substitution C T downstream_gene_variant LUSC-KR 7 102963719 102963719 single base substitution C T intron_variant LUSC-KR 7 102963719 102963719 single base substitution C T upstream_gene_variant LUSC-KR 7 102964239 102964239 single base substitution C G intron_variant LUSC-KR 7 102964239 102964239 single base substitution C G upstream_gene_variant LUSC-KR 7 102964440 102964440 single base substitution C G intron_variant LUSC-KR 7 102964440 102964440 single base substitution C G upstream_gene_variant LUSC-KR 7 102966437 102966437 single base substitution C G intron_variant LUSC-KR 7 102966437 102966437 single base substitution C G upstream_gene_variant LUSC-KR 7 102966550 102966550 single base substitution C A intron_variant LUSC-KR 7 102966550 102966550 single base substitution C A upstream_gene_variant LUSC-KR 7 102971622 102971622 single base substitution C T downstream_gene_variant LUSC-KR 7 102971622 102971622 single base substitution C T intron_variant LUSC-KR 7 102983074 102983074 single base substitution G T intron_variant LUSC-KR 7 102983074 102983074 single base substitution G T upstream_gene_variant LUSC-KR 7 102986056 102986056 single base substitution A G upstream_gene_variant LUSC-KR 7 102986799 102986799 single base substitution C G upstream_gene_variant MALY-DE 7 102953207 102953207 single base substitution T A downstream_gene_variant MALY-DE 7 102953207 102953207 single base substitution T A exon_variant MALY-DE 7 102953207 102953207 single base substitution T A intron_variant MALY-DE 7 102977674 102977674 single base substitution G A 3_prime_UTR_variant MALY-DE 7 102977674 102977674 single base substitution G A intron_variant MALY-DE 7 102980753 102980753 single base substitution C T intron_variant MALY-DE 7 102984542 102984542 single base substitution A G intron_variant MALY-DE 7 102984542 102984542 single base substitution A G upstream_gene_variant MELA-AU 7 102948265 102948265 single base substitution G A downstream_gene_variant MELA-AU 7 102948523 102948523 single base substitution C T downstream_gene_variant MELA-AU 7 102948602 102948602 single base substitution G A downstream_gene_variant MELA-AU 7 102951229 102951229 single base substitution A C downstream_gene_variant MELA-AU 7 102952022 102952022 single base substitution C T downstream_gene_variant MELA-AU 7 102953198 102953198 single base substitution T C downstream_gene_variant MELA-AU 7 102953198 102953198 single base substitution T C exon_variant MELA-AU 7 102953198 102953198 single base substitution T C intron_variant MELA-AU 7 102953487 102953487 single base substitution C T downstream_gene_variant MELA-AU 7 102953487 102953487 single base substitution C T exon_variant MELA-AU 7 102953487 102953487 single base substitution C T synonymous_variant L513L 1539G>A MELA-AU 7 102953487 102953487 single base substitution C T synonymous_variant L566L 1698G>A MELA-AU 7 102954583 102954583 single base substitution T C downstream_gene_variant MELA-AU 7 102954583 102954583 single base substitution T C intron_variant MELA-AU 7 102955729 102955729 single base substitution C T downstream_gene_variant MELA-AU 7 102955729 102955729 single base substitution C T intron_variant MELA-AU 7 102959409 102959409 single base substitution A G downstream_gene_variant MELA-AU 7 102959409 102959409 single base substitution A G intron_variant MELA-AU 7 102959409 102959409 single base substitution A G upstream_gene_variant MELA-AU 7 102964451 102964451 single base substitution C T intron_variant MELA-AU 7 102964451 102964451 single base substitution C T upstream_gene_variant MELA-AU 7 102964482 102964482 single base substitution G A intron_variant MELA-AU 7 102964482 102964482 single base substitution G A upstream_gene_variant MELA-AU 7 102964802 102964802 single base substitution G A intron_variant MELA-AU 7 102964802 102964802 single base substitution G A upstream_gene_variant MELA-AU 7 102965331 102965331 single base substitution C T intron_variant MELA-AU 7 102965331 102965331 single base substitution C T upstream_gene_variant MELA-AU 7 102965451 102965452 multiple base substitution (>=2bp and <=200bp) CC TT intron_variant MELA-AU 7 102965451 102965452 multiple base substitution (>=2bp and <=200bp) CC TT upstream_gene_variant MELA-AU 7 102965616 102965616 single base substitution C T intron_variant MELA-AU 7 102965616 102965616 single base substitution C T upstream_gene_variant MELA-AU 7 102966032 102966032 single base substitution C T intron_variant MELA-AU 7 102966032 102966032 single base substitution C T upstream_gene_variant MELA-AU 7 102966663 102966663 single base substitution G A intron_variant MELA-AU 7 102966663 102966663 single base substitution G A upstream_gene_variant MELA-AU 7 102966677 102966677 single base substitution G A intron_variant MELA-AU 7 102966677 102966677 single base substitution G A upstream_gene_variant MELA-AU 7 102968956 102968956 single base substitution T G intron_variant MELA-AU 7 102968956 102968956 single base substitution T G upstream_gene_variant MELA-AU 7 102969352 102969352 single base substitution C T intron_variant MELA-AU 7 102969352 102969352 single base substitution C T upstream_gene_variant MELA-AU 7 102972150 102972150 single base substitution C T downstream_gene_variant MELA-AU 7 102972150 102972150 single base substitution C T intron_variant MELA-AU 7 102972544 102972544 single base substitution C T downstream_gene_variant MELA-AU 7 102972544 102972544 single base substitution C T intron_variant MELA-AU 7 102972668 102972668 single base substitution G A downstream_gene_variant MELA-AU 7 102972668 102972668 single base substitution G A intron_variant MELA-AU 7 102973533 102973533 single base substitution T C downstream_gene_variant MELA-AU 7 102973533 102973533 single base substitution T C intron_variant MELA-AU 7 102974019 102974019 single base substitution A T downstream_gene_variant MELA-AU 7 102974019 102974019 single base substitution A T intron_variant MELA-AU 7 102974051 102974051 single base substitution G A downstream_gene_variant MELA-AU 7 102974051 102974051 single base substitution G A intron_variant MELA-AU 7 102976522 102976522 single base substitution G C 3_prime_UTR_variant MELA-AU 7 102976522 102976522 single base substitution G C intron_variant MELA-AU 7 102976674 102976674 single base substitution A G 3_prime_UTR_variant MELA-AU 7 102976674 102976674 single base substitution A G intron_variant MELA-AU 7 102977760 102977760 single base substitution G A 3_prime_UTR_variant MELA-AU 7 102977760 102977760 single base substitution G A intron_variant MELA-AU 7 102978269 102978269 single base substitution A T intron_variant MELA-AU 7 102978271 102978271 single base substitution C A intron_variant MELA-AU 7 102978558 102978558 single base substitution T A intron_variant MELA-AU 7 102978999 102979000 multiple base substitution (>=2bp and <=200bp) CT AA intron_variant MELA-AU 7 102979002 102979002 single base substitution C T intron_variant MELA-AU 7 102979015 102979015 single base substitution G A intron_variant MELA-AU 7 102981780 102981780 single base substitution G A intron_variant MELA-AU 7 102982452 102982452 single base substitution A G intron_variant MELA-AU 7 102982452 102982452 single base substitution A G upstream_gene_variant MELA-AU 7 102982980 102982980 single base substitution G A intron_variant MELA-AU 7 102982980 102982980 single base substitution G A upstream_gene_variant MELA-AU 7 102983097 102983097 single base substitution C T intron_variant MELA-AU 7 102983097 102983097 single base substitution C T upstream_gene_variant MELA-AU 7 102983292 102983292 single base substitution T G intron_variant MELA-AU 7 102983292 102983292 single base substitution T G upstream_gene_variant MELA-AU 7 102983386 102983386 single base substitution G T intron_variant MELA-AU 7 102983386 102983386 single base substitution G T upstream_gene_variant MELA-AU 7 102983515 102983515 single base substitution C T intron_variant MELA-AU 7 102983515 102983515 single base substitution C T upstream_gene_variant MELA-AU 7 102984595 102984595 single base substitution G A intron_variant MELA-AU 7 102984595 102984595 single base substitution G A upstream_gene_variant MELA-AU 7 102985337 102985337 single base substitution G A upstream_gene_variant MELA-AU 7 102985377 102985377 single base substitution G A upstream_gene_variant MELA-AU 7 102985438 102985438 single base substitution A C upstream_gene_variant MELA-AU 7 102985693 102985693 single base substitution G A upstream_gene_variant MELA-AU 7 102985840 102985840 single base substitution C T upstream_gene_variant MELA-AU 7 102986141 102986141 single base substitution G A upstream_gene_variant MELA-AU 7 102986345 102986345 single base substitution T C upstream_gene_variant MELA-AU 7 102987422 102987422 single base substitution C T upstream_gene_variant MELA-AU 7 102988088 102988088 single base substitution G A upstream_gene_variant MELA-AU 7 102988089 102988089 single base substitution G A upstream_gene_variant MELA-AU 7 102988398 102988398 single base substitution C T upstream_gene_variant MELA-AU 7 102989736 102989736 single base substitution A C upstream_gene_variant ORCA-IN 7 102960085 102960085 single base substitution C G downstream_gene_variant ORCA-IN 7 102960085 102960085 single base substitution C G exon_variant ORCA-IN 7 102960085 102960085 single base substitution C G intron_variant ORCA-IN 7 102960085 102960085 single base substitution C G missense_variant E405Q 1213G>C ORCA-IN 7 102960085 102960085 single base substitution C G upstream_gene_variant ORCA-IN 7 102989976 102989976 single base substitution A G upstream_gene_variant OV-AU 7 102950920 102950920 single base substitution A C downstream_gene_variant OV-AU 7 102953122 102953122 single base substitution T C downstream_gene_variant OV-AU 7 102953122 102953122 single base substitution T C exon_variant OV-AU 7 102953122 102953122 single base substitution T C intron_variant OV-AU 7 102965607 102965607 single base substitution G A intron_variant OV-AU 7 102965607 102965607 single base substitution G A upstream_gene_variant OV-AU 7 102967013 102967013 single base substitution G T 3_prime_UTR_variant OV-AU 7 102967013 102967013 single base substitution G T exon_variant OV-AU 7 102967013 102967013 single base substitution G T synonymous_variant T109T 327C>A OV-AU 7 102967013 102967013 single base substitution G T synonymous_variant T171T 513C>A OV-AU 7 102967013 102967013 single base substitution G T synonymous_variant T183T 549C>A OV-AU 7 102967013 102967013 single base substitution G T upstream_gene_variant OV-AU 7 102967631 102967631 single base substitution G T intron_variant OV-AU 7 102967631 102967631 single base substitution G T upstream_gene_variant OV-AU 7 102969435 102969435 single base substitution G T intron_variant OV-AU 7 102969435 102969435 single base substitution G T upstream_gene_variant OV-AU 7 102970273 102970273 single base substitution G C intron_variant OV-AU 7 102972372 102972372 single base substitution C G downstream_gene_variant OV-AU 7 102972372 102972372 single base substitution C G intron_variant OV-AU 7 102976083 102976083 single base substitution C G 3_prime_UTR_variant OV-AU 7 102976083 102976083 single base substitution C G intron_variant OV-AU 7 102979987 102979987 single base substitution C T intron_variant OV-US 7 102948090 102948090 single base substitution G C downstream_gene_variant OV-US 7 102948151 102948151 single base substitution G C downstream_gene_variant PACA-AU 7 102949334 102949334 single base substitution T G downstream_gene_variant PACA-AU 7 102961207 102961207 single base substitution C T downstream_gene_variant PACA-AU 7 102961207 102961207 single base substitution C T intron_variant PACA-AU 7 102961207 102961207 single base substitution C T upstream_gene_variant PACA-AU 7 102963646 102963646 single base substitution G C downstream_gene_variant PACA-AU 7 102963646 102963646 single base substitution G C intron_variant PACA-AU 7 102963646 102963646 single base substitution G C upstream_gene_variant PACA-AU 7 102969072 102969073 deletion of <=200bp TG - intron_variant PACA-AU 7 102969072 102969073 deletion of <=200bp TG - upstream_gene_variant PACA-AU 7 102978204 102978204 single base substitution G A exon_variant PACA-AU 7 102978204 102978204 single base substitution G A stop_gained Q104* 310C>T PACA-AU 7 102978204 102978204 single base substitution G A stop_gained Q30* 88C>T PACA-AU 7 102978204 102978204 single base substitution G A stop_gained Q92* 274C>T PACA-AU 7 102988777 102988777 single base substitution C T upstream_gene_variant PACA-CA 7 102953536 102953536 single base substitution T G downstream_gene_variant PACA-CA 7 102953536 102953536 single base substitution T G exon_variant PACA-CA 7 102953536 102953536 single base substitution T G missense_variant D497A 1490A>C PACA-CA 7 102953536 102953536 single base substitution T G missense_variant D550A 1649A>C PACA-CA 7 102954856 102954856 single base substitution C T downstream_gene_variant PACA-CA 7 102954856 102954856 single base substitution C T intron_variant PACA-CA 7 102961602 102961602 single base substitution G A downstream_gene_variant PACA-CA 7 102961602 102961602 single base substitution G A intron_variant PACA-CA 7 102961602 102961602 single base substitution G A upstream_gene_variant PACA-CA 7 102965487 102965487 single base substitution T G intron_variant PACA-CA 7 102965487 102965487 single base substitution T G upstream_gene_variant PACA-CA 7 102974546 102974546 single base substitution C T downstream_gene_variant PACA-CA 7 102974546 102974546 single base substitution C T intron_variant PACA-CA 7 102978541 102978541 single base substitution C T intron_variant PACA-CA 7 102979335 102979335 single base substitution C T intron_variant PACA-CA 7 102984172 102984172 single base substitution C T intron_variant PACA-CA 7 102984172 102984172 single base substitution C T upstream_gene_variant PACA-CA 7 102985072 102985072 single base substitution T A 5_prime_UTR_variant PACA-CA 7 102985072 102985072 single base substitution T A upstream_gene_variant PACA-CA 7 102985431 102985431 single base substitution T C upstream_gene_variant PACA-CA 7 102989140 102989140 single base substitution C T upstream_gene_variant PAEN-AU 7 102959838 102959838 single base substitution C T downstream_gene_variant PAEN-AU 7 102959838 102959838 single base substitution C T intron_variant PAEN-AU 7 102959838 102959838 single base substitution C T upstream_gene_variant PAEN-IT 7 102983104 102983104 single base substitution G A intron_variant PAEN-IT 7 102983104 102983104 single base substitution G A upstream_gene_variant PBCA-DE 7 102948354 102948354 insertion of <=200bp - T downstream_gene_variant PBCA-DE 7 102958465 102958465 single base substitution C T downstream_gene_variant PBCA-DE 7 102958465 102958465 single base substitution C T intron_variant PBCA-DE 7 102958465 102958465 single base substitution C T upstream_gene_variant PBCA-DE 7 102970264 102970264 single base substitution T A intron_variant PBCA-DE 7 102977749 102977749 deletion of <=200bp C - 3_prime_UTR_variant PBCA-DE 7 102977749 102977749 deletion of <=200bp C - intron_variant PBCA-DE 7 102977825 102977825 single base substitution A C 3_prime_UTR_variant PBCA-DE 7 102977825 102977825 single base substitution A C intron_variant PRAD-CA 7 102965080 102965080 single base substitution T C exon_variant PRAD-CA 7 102965080 102965080 single base substitution T C intron_variant PRAD-CA 7 102965080 102965080 single base substitution T C upstream_gene_variant PRAD-CA 7 102966781 102966781 single base substitution A T intron_variant PRAD-CA 7 102966781 102966781 single base substitution A T upstream_gene_variant PRAD-UK 7 102961992 102961992 single base substitution T G downstream_gene_variant PRAD-UK 7 102961992 102961992 single base substitution T G intron_variant PRAD-UK 7 102961992 102961992 single base substitution T G upstream_gene_variant PRAD-UK 7 102969488 102969488 single base substitution C G intron_variant PRAD-UK 7 102969488 102969488 single base substitution C G upstream_gene_variant PRAD-UK 7 102983200 102983200 single base substitution C T intron_variant PRAD-UK 7 102983200 102983200 single base substitution C T upstream_gene_variant PRAD-US 7 102964991 102964991 insertion of <=200bp - T 3_prime_UTR_variant PRAD-US 7 102964991 102964991 insertion of <=200bp - T exon_variant PRAD-US 7 102964991 102964991 insertion of <=200bp - T frameshift_variant N123N? PRAD-US 7 102964991 102964991 insertion of <=200bp - T frameshift_variant N197N? PRAD-US 7 102964991 102964991 insertion of <=200bp - T intron_variant PRAD-US 7 102964991 102964991 insertion of <=200bp - T upstream_gene_variant READ-US 7 102957426 102957426 single base substitution T G exon_variant READ-US 7 102957426 102957426 single base substitution T G missense_variant K373N 1119A>C READ-US 7 102957426 102957426 single base substitution T G missense_variant K426N 1278A>C READ-US 7 102957436 102957436 single base substitution C A exon_variant READ-US 7 102957436 102957436 single base substitution C A missense_variant R370I 1109G>T READ-US 7 102957436 102957436 single base substitution C A missense_variant R423I 1268G>T READ-US 7 102967005 102967005 single base substitution A C 3_prime_UTR_variant READ-US 7 102967005 102967005 single base substitution A C exon_variant READ-US 7 102967005 102967005 single base substitution A C missense_variant F112C 335T>G READ-US 7 102967005 102967005 single base substitution A C missense_variant F174C 521T>G READ-US 7 102967005 102967005 single base substitution A C missense_variant F186C 557T>G READ-US 7 102967005 102967005 single base substitution A C upstream_gene_variant READ-US 7 102967025 102967025 single base substitution G A 3_prime_UTR_variant READ-US 7 102967025 102967025 single base substitution G A exon_variant READ-US 7 102967025 102967025 single base substitution G A synonymous_variant F105F 315C>T READ-US 7 102967025 102967025 single base substitution G A synonymous_variant F167F 501C>T READ-US 7 102967025 102967025 single base substitution G A synonymous_variant F179F 537C>T READ-US 7 102967025 102967025 single base substitution G A upstream_gene_variant RECA-EU 7 102957503 102957503 single base substitution A C exon_variant RECA-EU 7 102957503 102957503 single base substitution A C intron_variant RECA-EU 7 102958021 102958021 single base substitution C A intron_variant RECA-EU 7 102958021 102958021 single base substitution C A upstream_gene_variant RECA-EU 7 102958035 102958035 single base substitution A G intron_variant RECA-EU 7 102958035 102958035 single base substitution A G upstream_gene_variant RECA-EU 7 102963819 102963819 single base substitution C A downstream_gene_variant RECA-EU 7 102963819 102963819 single base substitution C A intron_variant RECA-EU 7 102963819 102963819 single base substitution C A upstream_gene_variant RECA-EU 7 102969174 102969174 single base substitution C A intron_variant RECA-EU 7 102969174 102969174 single base substitution C A upstream_gene_variant RECA-EU 7 102986943 102986943 single base substitution G A upstream_gene_variant SKCA-BR 7 102951438 102951438 single base substitution G A downstream_gene_variant SKCA-BR 7 102951439 102951439 single base substitution T A downstream_gene_variant SKCA-BR 7 102962070 102962070 single base substitution A G downstream_gene_variant SKCA-BR 7 102962070 102962070 single base substitution A G intron_variant SKCA-BR 7 102962070 102962070 single base substitution A G upstream_gene_variant SKCA-BR 7 102965896 102965896 insertion of <=200bp - GA intron_variant SKCA-BR 7 102965896 102965896 insertion of <=200bp - GA upstream_gene_variant SKCA-BR 7 102968666 102968666 single base substitution G A intron_variant SKCA-BR 7 102968666 102968666 single base substitution G A upstream_gene_variant SKCA-BR 7 102972707 102972707 single base substitution C T downstream_gene_variant SKCA-BR 7 102972707 102972707 single base substitution C T intron_variant SKCA-BR 7 102981280 102981280 single base substitution G A intron_variant SKCA-BR 7 102982758 102982758 single base substitution T A intron_variant SKCA-BR 7 102982758 102982758 single base substitution T A upstream_gene_variant SKCA-BR 7 102987548 102987548 single base substitution T C upstream_gene_variant SKCM-US 7 102948111 102948111 single base substitution G A downstream_gene_variant SKCM-US 7 102948132 102948132 single base substitution C T downstream_gene_variant SKCM-US 7 102956221 102956221 single base substitution T C downstream_gene_variant SKCM-US 7 102956221 102956221 single base substitution T C exon_variant SKCM-US 7 102956221 102956221 single base substitution T C synonymous_variant E489E 1467A>G SKCM-US 7 102956221 102956221 single base substitution T C synonymous_variant E542E 1626A>G SKCM-US 7 102956276 102956276 single base substitution T A downstream_gene_variant SKCM-US 7 102956276 102956276 single base substitution T A exon_variant SKCM-US 7 102956276 102956276 single base substitution T A missense_variant K471M 1412A>T SKCM-US 7 102956276 102956276 single base substitution T A missense_variant K524M 1571A>T SKCM-US 7 102964992 102964992 deletion of <=200bp T - 3_prime_UTR_variant SKCM-US 7 102964992 102964992 deletion of <=200bp T - exon_variant SKCM-US 7 102964992 102964992 deletion of <=200bp T - frameshift_variant N123 SKCM-US 7 102964992 102964992 deletion of <=200bp T - frameshift_variant N197 SKCM-US 7 102964992 102964992 deletion of <=200bp T - intron_variant SKCM-US 7 102964992 102964992 deletion of <=200bp T - upstream_gene_variant SKCM-US 7 102967028 102967028 single base substitution G A 3_prime_UTR_variant SKCM-US 7 102967028 102967028 single base substitution G A exon_variant SKCM-US 7 102967028 102967028 single base substitution G A synonymous_variant F104F 312C>T SKCM-US 7 102967028 102967028 single base substitution G A synonymous_variant F166F 498C>T SKCM-US 7 102967028 102967028 single base substitution G A synonymous_variant F178F 534C>T SKCM-US 7 102967028 102967028 single base substitution G A upstream_gene_variant STAD-US 7 102948078 102948078 single base substitution T C downstream_gene_variant STAD-US 7 102948086 102948086 single base substitution C T downstream_gene_variant STAD-US 7 102953432 102953432 single base substitution G A downstream_gene_variant STAD-US 7 102953432 102953432 single base substitution G A exon_variant STAD-US 7 102953432 102953432 single base substitution G A missense_variant P532S 1594C>T STAD-US 7 102953432 102953432 single base substitution G A missense_variant P585S 1753C>T STAD-US 7 102953458 102953458 single base substitution C A downstream_gene_variant STAD-US 7 102953458 102953458 single base substitution C A exon_variant STAD-US 7 102953458 102953458 single base substitution C A missense_variant R523I 1568G>T STAD-US 7 102953458 102953458 single base substitution C A missense_variant R576I 1727G>T STAD-US 7 102962467 102962467 single base substitution C T downstream_gene_variant STAD-US 7 102962467 102962467 single base substitution C T exon_variant STAD-US 7 102962467 102962467 single base substitution C T missense_variant R332K 995G>A STAD-US 7 102962467 102962467 single base substitution C T upstream_gene_variant STAD-US 7 102962507 102962507 single base substitution C A downstream_gene_variant STAD-US 7 102962507 102962507 single base substitution C A exon_variant STAD-US 7 102962507 102962507 single base substitution C A missense_variant A319S 955G>T STAD-US 7 102962507 102962507 single base substitution C A upstream_gene_variant STAD-US 7 102962984 102962984 single base substitution G A downstream_gene_variant STAD-US 7 102962984 102962984 single base substitution G A exon_variant STAD-US 7 102962984 102962984 single base substitution G A missense_variant R303W 907C>T STAD-US 7 102962984 102962984 single base substitution G A upstream_gene_variant STAD-US 7 102963071 102963071 single base substitution A G downstream_gene_variant STAD-US 7 102963071 102963071 single base substitution A G exon_variant STAD-US 7 102963071 102963071 single base substitution A G missense_variant Y235H 703T>C STAD-US 7 102963071 102963071 single base substitution A G missense_variant Y274H 820T>C STAD-US 7 102963071 102963071 single base substitution A G upstream_gene_variant STAD-US 7 102964992 102964992 insertion of <=200bp - T 3_prime_UTR_variant STAD-US 7 102964992 102964992 insertion of <=200bp - T exon_variant STAD-US 7 102964992 102964992 insertion of <=200bp - T frameshift_variant N123K? STAD-US 7 102964992 102964992 insertion of <=200bp - T frameshift_variant N197K? STAD-US 7 102964992 102964992 insertion of <=200bp - T intron_variant STAD-US 7 102964992 102964992 insertion of <=200bp - T upstream_gene_variant STAD-US 7 102967025 102967025 single base substitution G A 3_prime_UTR_variant STAD-US 7 102967025 102967025 single base substitution G A exon_variant STAD-US 7 102967025 102967025 single base substitution G A synonymous_variant F105F 315C>T STAD-US 7 102967025 102967025 single base substitution G A synonymous_variant F167F 501C>T STAD-US 7 102967025 102967025 single base substitution G A synonymous_variant F179F 537C>T STAD-US 7 102967025 102967025 single base substitution G A upstream_gene_variant STAD-US 7 102967059 102967059 single base substitution A G 3_prime_UTR_variant STAD-US 7 102967059 102967059 single base substitution A G exon_variant STAD-US 7 102967059 102967059 single base substitution A G missense_variant V156A 467T>C STAD-US 7 102967059 102967059 single base substitution A G missense_variant V168A 503T>C STAD-US 7 102967059 102967059 single base substitution A G missense_variant V94A 281T>C STAD-US 7 102967059 102967059 single base substitution A G upstream_gene_variant STAD-US 7 102967090 102967090 single base substitution T A 3_prime_UTR_variant STAD-US 7 102967090 102967090 single base substitution T A exon_variant STAD-US 7 102967090 102967090 single base substitution T A missense_variant N146Y 436A>T STAD-US 7 102967090 102967090 single base substitution T A missense_variant N158Y 472A>T STAD-US 7 102967090 102967090 single base substitution T A missense_variant N84Y 250A>T STAD-US 7 102967090 102967090 single base substitution T A upstream_gene_variant STAD-US 7 102968125 102968125 single base substitution G C exon_variant STAD-US 7 102968125 102968125 single base substitution G C missense_variant D124E 372C>G STAD-US 7 102968125 102968125 single base substitution G C missense_variant D136E 408C>G STAD-US 7 102968125 102968125 single base substitution G C missense_variant D62E 186C>G STAD-US 7 102968125 102968125 single base substitution G C upstream_gene_variant STAD-US 7 102982306 102982306 single base substitution C T 5_prime_UTR_variant STAD-US 7 102982306 102982306 single base substitution C T exon_variant STAD-US 7 102982306 102982306 single base substitution C T missense_variant E42K 124G>A STAD-US 7 102982306 102982306 single base substitution C T missense_variant E54K 160G>A STAD-US 7 102982389 102982389 single base substitution C T exon_variant STAD-US 7 102982389 102982389 single base substitution C T intron_variant STAD-US 7 102982389 102982389 single base substitution C T missense_variant C14Y 41G>A STAD-US 7 102982389 102982389 single base substitution C T missense_variant C26Y 77G>A STAD-US 7 102982389 102982389 single base substitution C T upstream_gene_variant STAD-US 7 102988185 102988185 single base substitution G T upstream_gene_variant UCEC-US 7 102950918 102950918 single base substitution G T downstream_gene_variant UCEC-US 7 102952336 102952336 single base substitution G T downstream_gene_variant UCEC-US 7 102952581 102952581 single base substitution A G downstream_gene_variant UCEC-US 7 102953082 102953082 single base substitution G A downstream_gene_variant UCEC-US 7 102953082 102953082 single base substitution G A exon_variant UCEC-US 7 102953082 102953082 single base substitution G A synonymous_variant V547V 1641C>T UCEC-US 7 102953082 102953082 single base substitution G A synonymous_variant V600V 1800C>T UCEC-US 7 102953402 102953402 single base substitution G A downstream_gene_variant UCEC-US 7 102953402 102953402 single base substitution G A exon_variant UCEC-US 7 102953402 102953402 single base substitution G A stop_gained R542* 1624C>T UCEC-US 7 102953402 102953402 single base substitution G A stop_gained R595* 1783C>T UCEC-US 7 102957292 102957292 single base substitution G T exon_variant UCEC-US 7 102957292 102957292 single base substitution G T missense_variant A418D 1253C>A UCEC-US 7 102957292 102957292 single base substitution G T missense_variant A471D 1412C>A UCEC-US 7 102960070 102960070 single base substitution C T downstream_gene_variant UCEC-US 7 102960070 102960070 single base substitution C T exon_variant UCEC-US 7 102960070 102960070 single base substitution C T intron_variant UCEC-US 7 102960070 102960070 single base substitution C T missense_variant A410T 1228G>A UCEC-US 7 102960070 102960070 single base substitution C T upstream_gene_variant UCEC-US 7 102962393 102962393 single base substitution G A downstream_gene_variant UCEC-US 7 102962393 102962393 single base substitution G A exon_variant UCEC-US 7 102962393 102962393 single base substitution G A stop_gained R357* 1069C>T UCEC-US 7 102962393 102962393 single base substitution G A upstream_gene_variant UCEC-US 7 102963017 102963017 single base substitution C G downstream_gene_variant UCEC-US 7 102963017 102963017 single base substitution C G exon_variant UCEC-US 7 102963017 102963017 single base substitution C G missense_variant E292Q 874G>C UCEC-US 7 102963017 102963017 single base substitution C G upstream_gene_variant UCEC-US 7 102964084 102964084 single base substitution A C 3_prime_UTR_variant UCEC-US 7 102964084 102964084 single base substitution A C exon_variant UCEC-US 7 102964084 102964084 single base substitution A C intron_variant UCEC-US 7 102964084 102964084 single base substitution A C missense_variant F153C 458T>G UCEC-US 7 102964084 102964084 single base substitution A C missense_variant F188C 563T>G UCEC-US 7 102964084 102964084 single base substitution A C missense_variant F227C 680T>G UCEC-US 7 102964084 102964084 single base substitution A C upstream_gene_variant UCEC-US 7 102964096 102964096 single base substitution G T 3_prime_UTR_variant UCEC-US 7 102964096 102964096 single base substitution G T exon_variant UCEC-US 7 102964096 102964096 single base substitution G T intron_variant UCEC-US 7 102964096 102964096 single base substitution G T missense_variant S149Y 446C>A UCEC-US 7 102964096 102964096 single base substitution G T missense_variant S184Y 551C>A UCEC-US 7 102964096 102964096 single base substitution G T missense_variant S223Y 668C>A UCEC-US 7 102964096 102964096 single base substitution G T upstream_gene_variant UCEC-US 7 102968114 102968114 single base substitution C T exon_variant UCEC-US 7 102968114 102968114 single base substitution C T missense_variant C128Y 383G>A UCEC-US 7 102968114 102968114 single base substitution C T missense_variant C140Y 419G>A UCEC-US 7 102968114 102968114 single base substitution C T missense_variant C66Y 197G>A UCEC-US 7 102968114 102968114 single base substitution C T upstream_gene_variant UCEC-US 7 102968185 102968185 single base substitution T C exon_variant UCEC-US 7 102968185 102968185 single base substitution T C synonymous_variant L104L 312A>G UCEC-US 7 102968185 102968185 single base substitution T C synonymous_variant L116L 348A>G UCEC-US 7 102968185 102968185 single base substitution T C synonymous_variant L42L 126A>G UCEC-US 7 102968185 102968185 single base substitution T C upstream_gene_variant

Mutation - COSMIC Sample Name Mutation ID Mutation CDS Mutation AA Mutation Description Mutation Genome Position Mutation Strand TCGA-EE-A3AG-06 COSM3631495 c.1500A>G p.E500E Substitution - coding silent 7:103315774-103315774 - OSCC-GB_00970111 COSM4889609 c.1087G>C p.E363Q Substitution - Missense 7:103319638-103319638 - P106 COSM1736361 c.1216G>A p.G406R Substitution - Missense 7:103316915-103316915 - S02299 COSM5690834 c.238G>T p.D80Y Substitution - Missense 7:103341781-103341781 - TCGA-D1-A103-01 COSM1083555 c.1286C>A p.A429D Substitution - Missense 7:103316845-103316845 - TCGA-A6-3809-01 COSM1446921 c.590_591insA p.N197fs*4 Insertion - Frameshift 7:103324544-103324545 - HCC150 COSM3662819 c.1256T>A p.L419* Substitution - Nonsense 7:103316875-103316875 - TCGA-BP-4971-01 COSM484559 c.1083A>T p.T361T Substitution - coding silent 7:103319642-103319642 - 587342 COSM1204201 c.916G>A p.A306T Substitution - Missense 7:103321973-103321973 - CHC303T COSM4950428 c.446C>G p.S149C Substitution - Missense 7:103326669-103326669 - CHC1531T COSM4804851 c.637A>G p.I213V Substitution - Missense 7:103324498-103324498 - TCGA-BR-8680-01 COSM3876791 c.160G>A p.E54K Substitution - Missense 7:103341859-103341859 - 2557_PT COSM5756930 c.773G>A p.R258K Substitution - Missense 7:103322741-103322741 - TCGA-AZ-4315-01 COSM1446917 c.784G>A p.E262K Substitution - Missense 7:103322730-103322730 - T2929 COSM4678734 c.49C>T p.H17Y Substitution - Missense 7:103344574-103344574 - 587350 COSM1181029 c.590delA p.N197fs*8 Deletion - Frameshift 7:103324545-103324545 - BD121T COSM5515212 c.64+9C>T p.? Unknown 7:103344550-103344550 - 3844_T COSM3949678 c.1405C>T p.P469S Substitution - Missense 7:103315869-103315869 - PT37 COSM5919283 c.188C>T p.S63L Substitution - Missense 7:103341831-103341831 - OV207 COSM252478 c.499T>C p.S167P Substitution - Missense 7:103326616-103326616 - BD124T COSM5494371 c.808-5delT p.? Unknown 7:103322086-103322086 - PT46 COSM5928917 c.1502G>A p.R501Q Substitution - Missense 7:103315772-103315772 - TCGA-D1-A15X-01 COSM1083567 c.348A>G p.L116L Substitution - coding silent 7:103327738-103327738 - BN49T COSM1622148 c.1660T>C p.Y554H Substitution - Missense 7:103312952-103312952 - TCGA-AP-A059-01 COSM1083557 c.1102G>A p.A368T Substitution - Missense 7:103319623-103319623 - TCGA-A2-A0D3-01 COSM452080 c.1070_1071delTC p.L357fs*21 Deletion - Frameshift 7:103319654-103319655 - DN14043 COSM5961912 c.1123G>T p.E375* Substitution - Nonsense 7:103317008-103317008 - TCGA-BP-4963-01 COSM484563 c.223A>G p.M75V Substitution - Missense 7:103341796-103341796 - TCGA-EI-6917-01 COSM3431023 c.1142G>T p.R381I Substitution - Missense 7:103316989-103316989 - TCGA-F5-6814-01 COSM3431027 c.537C>T p.F179F Substitution - coding silent 7:103326578-103326578 - J30_T COSM3949680 c.1125A>T p.E375D Substitution - Missense 7:103317006-103317006 - PCSI_0230_Pa_P_526 COSM4966018 c.1523A>C p.D508A Substitution - Missense 7:103313089-103313089 - TCGA-AA-3715-01 COSM1181029 c.590delA p.N197fs*8 Deletion - Frameshift 7:103324545-103324545 - TCGA-BR-6802-01 COSM3876776 c.1627C>T p.P543S Substitution - Missense 7:103312985-103312985 - YUKAT COSM5406111 c.1286C>T p.A429V Substitution - Missense 7:103316845-103316845 - 220 COSM4425265 c.1597G>A p.E533K Substitution - Missense 7:103313015-103313015 - TCGA-C8-A12T-01 COSM452081 c.214G>C p.E72Q Substitution - Missense 7:103341805-103341805 - 61 COSM5738081 c.1213G>T p.G405C Substitution - Missense 7:103316918-103316918 - TCGA-AM-5821-01 COSM1181029 c.590delA p.N197fs*8 Deletion - Frameshift 7:103324545-103324545 - 8016470 COSM3394433 c.310C>T p.Q104* Substitution - Nonsense 7:103337757-103337757 - TCGA-CM-4746-01 COSM1181029 c.590delA p.N197fs*8 Deletion - Frameshift 7:103324545-103324545 - ESO-0133 COSM1250450 c.1009G>T p.E337* Substitution - Nonsense 7:103319793-103319793 - TCGA-LG-A6GG-01 COSM4939385 c.1623G>A p.A541A Substitution - coding silent 7:103312989-103312989 - TCGA-GF-A3OT-06 COSM3631499 c.534C>T p.F178F Substitution - coding silent 7:103326581-103326581 - TCGA-06-0241 COSM2151153 c.1533T>C p.P511P Substitution - coding silent 7:103313079-103313079 - CHC1531T COSM4804851 c.637A>G p.I213V Substitution - Missense 7:103324498-103324498 - LUAD-RT-S01777 COSM382501 c.1197G>C p.E399D Substitution - Missense 7:103316934-103316934 - TCGA-EE-A29G-06 COSM3631497 c.1445A>T p.K482M Substitution - Missense 7:103315829-103315829 - CHC2216T COSM5347251 c.808-16_827del36 p.? Unknown 7:103322062-103322097 - TCGA-B5-A0JY-01 COSM274851 c.1689C>T p.V563V Substitution - coding silent 7:103312635-103312635 - CHC303T COSM4950428 c.446C>G p.S149C Substitution - Missense 7:103326669-103326669 - TCGA-BR-8680-01 COSM3876778 c.1601G>T p.R534I Substitution - Missense 7:103313011-103313011 - LUAD-RT-S01818 COSM384115 c.1749G>C p.K583N Substitution - Missense 7:103312575-103312575 - BD236T COSM5518785 c.463C>T p.R155* Substitution - Nonsense 7:103326652-103326652 - TCGA-A6-6141-01 COSM1446919 c.647C>A p.S216Y Substitution - Missense 7:103324488-103324488 - T3724 COSM4678732 c.833C>T p.A278V Substitution - Missense 7:103322056-103322056 - ESCC_40 COSM5629469 c.608A>C p.D203A Substitution - Missense 7:103324527-103324527 - 587376 COSM1204199 c.346T>G p.L116V Substitution - Missense 7:103327740-103327740 - TCGA-AG-3892-01 COSM256797 c.538G>A p.E180K Substitution - Missense 7:103326577-103326577 - MO_1012 COSM1250451 c.1622C>T p.A541V Substitution - Missense 7:103312990-103312990 - 116 COSM5011824 c.188C>G p.S63* Substitution - Nonsense 7:103341831-103341831 - TCGA-CD-5798-01 COSM3876789 c.408C>G p.D136E Substitution - Missense 7:103327678-103327678 - TCGA-IR-A3LI-01 COSM4845926 c.1302-1G>A p.? Unknown 7:103316089-103316089 - 6115114 COSM5546755 c.1100_1116+1del18 p.? Unknown 7:103319608-103319625 - TCGA-AG-3892-01 COSM256795 c.1260A>G p.L420L Substitution - coding silent 7:103316871-103316871 - KM12 COSM3083787 c.1223G>A p.G408E Substitution - Missense 7:103316908-103316908 - 467 COSM4437364 c.1613T>C p.I538T Substitution - Missense 7:103312999-103312999 - TCGA-06-0241-01 COSM2151153 c.1533T>C p.P511P Substitution - coding silent 7:103313079-103313079 - TCGA-BS-A0UF-01 COSM1083563 c.668C>A p.S223Y Substitution - Missense 7:103323649-103323649 - TCGA-BR-6852-01 COSM3876793 c.77G>A p.C26Y Substitution - Missense 7:103341942-103341942 - AOCS-135-3-1 COSM4153715 c.549C>A p.T183T Substitution - coding silent 7:103326566-103326566 - SUNE1 COSM4996778 c.965A>T p.N322I Substitution - Missense 7:103319837-103319837 - TCGA-A6-6142-01 COSM5091391 c.331+9T>A p.? Unknown 7:103337727-103337727 - TCGA-AC-A23H-01 COSM3831492 c.1211G>T p.G404V Substitution - Missense 7:103316920-103316920 - TCGA-AA-3713-01 COSM1446915 c.915delA p.A306fs*29 Deletion - Frameshift 7:103321974-103321974 - Pat_66_A COSM5871439 c.424A>G p.T142A Substitution - Missense 7:103327662-103327662 - TCGA-CJ-4641-01 COSM1137594 c.1189A>G p.N397D Substitution - Missense 7:103316942-103316942 - TCGA-AA-3672-01 COSM266400 c.1491G>A p.T497T Substitution - coding silent 7:103315783-103315783 - TCGA-BS-A0UV-01 COSM1083558 c.943C>T p.R315* Substitution - Nonsense 7:103321946-103321946 - TCGA-BR-8680-01 COSM3876785 c.503T>C p.V168A Substitution - Missense 7:103326612-103326612 - LIM1899 COSM4640761 c.417T>C p.T139T Substitution - coding silent 7:103327669-103327669 - TCGA-B0-4815-01 COSM484565 c.87A>G p.E29E Substitution - coding silent 7:103341932-103341932 - TCGA-A3-3387-01 COSM484555 c.1416A>G p.K472K Substitution - coding silent 7:103315858-103315858 - TCGA-F5-6814-01 COSM3431025 c.557T>G p.F186C Substitution - Missense 7:103326558-103326558 - TCGA-DD-A3A1-01 COSM4938309 c.1149G>A p.E383E Substitution - coding silent 7:103316982-103316982 - TCGA-F5-6814-01 COSM3431021 c.1152A>C p.K384N Substitution - Missense 7:103316979-103316979 - PD2141a COSM26983 c.442T>G p.L148V Substitution - Missense 7:103326673-103326673 - 2293780 COSM4608190 c.1234T>C p.W412R Substitution - Missense 7:103316897-103316897 - TCGA-BR-4362-01 COSM3876787 c.472A>T p.N158Y Substitution - Missense 7:103326643-103326643 - RKO COSM3083834 c.562A>C p.R188R Substitution - coding silent 7:103326553-103326553 - TCGA-B0-5705-01 COSM484553 c.1455A>G p.K485K Substitution - coding silent 7:103315819-103315819 - 2521262 COSM5895223 c.1047-6_1047-5insT p.? Unknown 7:103319683-103319684 - BD72T COSM5512423 c.331C>T p.H111Y Substitution - Missense 7:103337736-103337736 - ESCC_103 COSM5638305 c.414C>T p.F138F Substitution - coding silent 7:103327672-103327672 - 1_RESISTANT COSM1181029 c.590delA p.N197fs*8 Deletion - Frameshift 7:103324545-103324545 - TCGA-AA-A00N-01 COSM274851 c.1689C>T p.V563V Substitution - coding silent 7:103312635-103312635 - TCGA-BH-A0B6-01 COSM3831490 c.1507G>C p.E503Q Substitution - Missense 7:103315767-103315767 - T3118 COSM1181029 c.590delA p.N197fs*8 Deletion - Frameshift 7:103324545-103324545 - TCGA-AG-A025-01 COSM290364 c.131_132delGA p.R44fs*12 Deletion - Frameshift 7:103341887-103341888 - CSCC-49-T COSM4451206 c.980A>T p.N327I Substitution - Missense 7:103319822-103319822 - S00943 COSM310670 c.308C>A p.T103K Substitution - Missense 7:103337759-103337759 - Pat_53_B COSM1181029 c.590delA p.N197fs*8 Deletion - Frameshift 7:103324545-103324545 - TCGA-BR-4361-01 COSM3876780 c.869G>A p.R290K Substitution - Missense 7:103322020-103322020 - LUAD-RT-S01813 COSM383509 c.238G>C p.D80H Substitution - Missense 7:103341781-103341781 - CSB14 COSM5026793 c.242C>T p.P81L Substitution - Missense 7:103341777-103341777 - HCC150T COSM5817398 c.934C>G p.Q312E Substitution - Missense 7:103321955-103321955 - BN49 COSM1622148 c.1660T>C p.Y554H Substitution - Missense 7:103312952-103312952 - BD19T COSM5499730 c.376G>A p.A126T Substitution - Missense 7:103327710-103327710 - TCGA-BR-8680-01 COSM3431027 c.537C>T p.F179F Substitution - coding silent 7:103326578-103326578 - TCGA-CJ-5681-01 COSM484561 c.711A>G p.K237K Substitution - coding silent 7:103323606-103323606 - AOCS-135-8-X COSM4153715 c.549C>A p.T183T Substitution - coding silent 7:103326566-103326566 - TCGA-A6-5664-01 COSM1446911 c.1749G>T p.K583N Substitution - Missense 7:103312575-103312575 - HCC150T COSM3662819 c.1256T>A p.L419* Substitution - Nonsense 7:103316875-103316875 - TCGA-AX-A0J1-01 COSM1083551 c.1657C>T p.R553* Substitution - Nonsense 7:103312955-103312955 - LOVO COSM4645587 c.1485C>T p.N495N Substitution - coding silent 7:103315789-103315789 - 1287_T COSM3949676 c.1406C>T p.P469L Substitution - Missense 7:103315868-103315868 - T368 COSM4678730 c.915_916insA p.A306fs*3 Insertion - Frameshift 7:103321973-103321974 - TCGA-AA-3833-01 COSM295070 c.39C>T p.T13T Substitution - coding silent 7:103344584-103344584 - TCGA-F4-6856-01 COSM1446913 c.1287T>C p.A429A Substitution - coding silent 7:103316844-103316844 - TCGA-MU-A51Y-01 COSM4836574 c.944G>T p.R315L Substitution - Missense 7:103321945-103321945 - TCGA-AX-A0J0-01 COSM1083561 c.680T>G p.F227C Substitution - Missense 7:103323637-103323637 - TCGA-AP-A051-01 COSM1083565 c.419G>A p.C140Y Substitution - Missense 7:103327667-103327667 - ESO-721 COSM1250451 c.1622C>T p.A541V Substitution - Missense 7:103312990-103312990 - TCGA-B2-4099-01 COSM484557 c.1169G>A p.R390H Substitution - Missense 7:103316962-103316962 - TCGA-CD-A4MG-01 COSM3876782 c.829G>T p.A277S Substitution - Missense 7:103322060-103322060 - 1920_T COSM3949682 c.738G>T p.W246C Substitution - Missense 7:103322776-103322776 -

Mutation - CGAP UNIGENE CYTOBAND OMIM SNP Hs.558473;Hs.558476 7q22 605502

Mutation - IntOGen Mutated from(ref) Mutated to(alt) Consequence Type AA Mutation CDS Mutation Chr Pos Cancer A C IntronicSNV . c.331+358T>G 7 102977825 MB AG CA Missense p.S488L c.1463_1464delinsTG 7 102956499 CM A G Missense p.W577R c.1729T>C 7 102953456 HNSC C A Nonsense p.E379* c.1135G>T 7 102960240 ESCA C G 5-UTRSNV . c.1-84G>C 7 102985153 ESCA C G Missense p.D136H c.406G>C 7 102968127 LUAD C G Missense p.E292Q c.874G>C 7 102963017 UCEC C G Missense p.E72Q c.214G>C 7 102982252 BRCA C G SpliceAcceptorSNV . c.1428-1G>C 7 102956536 LUAD C T Missense p.C26Y c.77G>A 7 102982389 STAD C T Missense p.D498N c.1492G>A 7 102956471 CM C T Missense p.E427K c.1279G>A 7 102957425 LUAD C T Synonymous p.E427E c.1281G>A 7 102957423 LUAD C T Synonymous p.R188R c.564G>A 7 102966998 CM GA - Frameshift p.L399Hfs*21 c.1196_1197delTC 7 102960101 BRCA G A Missense p.A583V c.1748C>T 7 102953437 ESCA G A Missense p.P585S c.1753C>T 7 102953432 STAD G A Missense p.P81L c.242C>T 7 102982224 BRCA G A Missense p.R303W c.907C>T 7 102962984 STAD G A Synonymous p.P74P c.222C>T 7 102982244 HNSC G C Missense p.D136E c.408C>G 7 102968125 STAD G T Missense p.T103K c.308C>A 7 102978206 SCLC T A Missense p.K524M c.1571A>T 7 102956276 CM T A Synonymous p.T403T c.1209A>T 7 102960089 RCCC TC - Frameshift p.R44Kfs*12 c.131_132delGA 7 102982334 COREAD T C IntronicSNV . c.1243-108A>G 7 102957569 HC T C Missense p.M75V c.223A>G 7 102982243 RCCC T C Synonymous p.E542E c.1626A>G 7 102956221 CM T - Frameshift p.N197Mfs*8 c.590delA 7 102964992 CM