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 102106340 102106340 + Missense_Mutation SNP G G A TCGA-FD-A3SS-01A-12D-A22Z-08 TCGA-FD-A3SS-10A-01D-A22Z-08 g.chr7:102106340G>A c.157G>A c.(157-159)Gac>Aac p.D53N BLCA 7 102106607 102106607 + Missense_Mutation SNP G G A TCGA-HQ-A5NE-01A-12D-A289-08 TCGA-HQ-A5NE-10A-01D-A289-08 g.chr7:102106607G>A c.322G>A c.(322-324)Gac>Aac p.D108N BLCA 7 102113165 102113165 + Missense_Mutation SNP G G A TCGA-ZF-AA53-01A-11D-A391-08 TCGA-ZF-AA53-10A-01D-A394-08 g.chr7:102113165G>A c.1717G>A c.(1717-1719)Gag>Aag p.E573K BLCA 7 102113218 102113218 + Silent SNP C C T TCGA-2F-A9KO-01A-11D-A38G-08 TCGA-2F-A9KO-11A-12D-A38J-08 g.chr7:102113218C>T c.1770C>T c.(1768-1770)ccC>ccT p.P590P BRCA 7 102108194 102108194 + Missense_Mutation SNP C C T TCGA-AN-A046-01A-21W-A050-09 TCGA-AN-A046-10A-01W-A055-09 g.chr7:102108194C>T c.602C>T c.(601-603)gCc>gTc p.A201V BRCA 7 102108582 102108582 + Missense_Mutation SNP C C T TCGA-AC-A23H-01A-11D-A159-09 TCGA-AC-A23H-11A-12D-A17G-09 g.chr7:102108582C>T c.752C>T c.(751-753)tCc>tTc p.S251F BRCA 7 102108766 102108766 + Frame_Shift_Del DEL C C - TCGA-E9-A1NI-01A-11W-A16H-09 TCGA-E9-A1NI-10A-01D-A17G-09 g.chr7:102108766delC c.861delC c.(859-861)agcfs p.S287fs CESC 7 102108530 102108530 + Missense_Mutation SNP C C T TCGA-Q1-A6DW-01A-11D-A32I-09 TCGA-Q1-A6DW-10B-01D-A32I-09 g.chr7:102108530C>T c.700C>T c.(700-702)Cgg>Tgg p.R234W CESC 7 102108823 102108823 + Splice_Site SNP G G C TCGA-C5-A3HE-01A-21D-A22X-09 TCGA-C5-A3HE-10A-01D-A22X-09 g.chr7:102108823G>C c.918G>C c.(916-918)gaG>gaC p.E306D COAD 7 102106651 102106651 + Silent SNP C C A TCGA-AA-A010-01A-01W-A00E-09 TCGA-AA-A010-10A-01W-A00E-09 g.chr7:102106651C>A c.366C>A c.(364-366)gtC>gtA p.V122V COAD 7 102107870 102107870 + Missense_Mutation SNP G G A TCGA-AD-5900-01A-11D-1650-10 TCGA-AD-5900-10A-01D-1650-10 g.chr7:102107870G>A c.517G>A c.(517-519)Gct>Act p.A173T COAD 7 102108195 102108195 + Silent SNP C C T TCGA-AA-3712-01A-21D-1719-10 TCGA-AA-3712-11A-01D-1719-10 g.chr7:102108195C>T c.603C>T c.(601-603)gcC>gcT p.A201A COAD 7 102109447 102109447 + Missense_Mutation SNP G G A TCGA-CA-6717-01A-11D-1835-10 TCGA-CA-6717-10A-01D-1835-10 g.chr7:102109447G>A c.1166G>A c.(1165-1167)cGa>cAa p.R389Q COAD 7 102110270 102110270 + Silent SNP C C T TCGA-AD-6895-01A-11D-1924-10 TCGA-AD-6895-10A-01D-1924-10 g.chr7:102110270C>T c.1383C>T c.(1381-1383)gcC>gcT p.A461A COAD 7 102112683 102112683 + Silent SNP C C T TCGA-A6-6141-01A-11D-1771-10 TCGA-A6-6141-10A-01D-1771-10 g.chr7:102112683C>T c.1461C>T c.(1459-1461)ttC>ttT p.F487F COAD 7 102112914 102112914 + Missense_Mutation SNP C C A TCGA-CM-4746-01A-01D-1408-10 TCGA-CM-4746-10A-01D-1408-10 g.chr7:102112914C>A c.1548C>A c.(1546-1548)agC>agA p.S516R COAD 7 102112955 102112955 + Frame_Shift_Del DEL G G - TCGA-DM-A1HB-01A-21D-A183-10 TCGA-DM-A1HB-10A-01D-A183-10 g.chr7:102112955delG c.1589delG c.(1588-1590)tggfs p.W530fs COAD 7 102113192 102113192 + Missense_Mutation SNP G G A TCGA-CM-6162-01A-11D-1650-10 TCGA-CM-6162-10A-01D-1650-10 g.chr7:102113192G>A c.1744G>A c.(1744-1746)Gtc>Atc p.V582I COAD 7 102113452 102113452 + Missense_Mutation SNP G G A TCGA-AA-3516-01A-02W-0833-10 TCGA-AA-3516-10A-01W-0833-10 g.chr7:102113452G>A c.1900G>A c.(1900-1902)Gcc>Acc p.A634T COADREAD 7 102106371 102106371 + Missense_Mutation SNP C C T TCGA-AG-A020-01A-21W-A096-10 TCGA-AG-A020-11A-11W-A096-10 g.chr7:102106371C>T c.188C>T c.(187-189)cCg>cTg p.P63L COADREAD 7 102106651 102106651 + Silent SNP C C A TCGA-AA-A010-01A-01W-A00E-09 TCGA-AA-A010-10A-01W-A00E-09 g.chr7:102106651C>A c.366C>A c.(364-366)gtC>gtA p.V122V COADREAD 7 102107870 102107870 + Missense_Mutation SNP G G A TCGA-AD-5900-01A-11D-1650-10 TCGA-AD-5900-10A-01D-1650-10 g.chr7:102107870G>A c.517G>A c.(517-519)Gct>Act p.A173T COADREAD 7 102108195 102108195 + Silent SNP C C T TCGA-AA-3712-01A-21D-1719-10 TCGA-AA-3712-11A-01D-1719-10 g.chr7:102108195C>T c.603C>T c.(601-603)gcC>gcT p.A201A COADREAD 7 102109447 102109447 + Missense_Mutation SNP G G A TCGA-CA-6717-01A-11D-1835-10 TCGA-CA-6717-10A-01D-1835-10 g.chr7:102109447G>A c.1166G>A c.(1165-1167)cGa>cAa p.R389Q COADREAD 7 102110270 102110270 + Silent SNP C C T TCGA-AD-6895-01A-11D-1924-10 TCGA-AD-6895-10A-01D-1924-10 g.chr7:102110270C>T c.1383C>T c.(1381-1383)gcC>gcT p.A461A COADREAD 7 102112683 102112683 + Silent SNP C C T TCGA-A6-6141-01A-11D-1771-10 TCGA-A6-6141-10A-01D-1771-10 g.chr7:102112683C>T c.1461C>T c.(1459-1461)ttC>ttT p.F487F COADREAD 7 102112914 102112914 + Missense_Mutation SNP C C A TCGA-CM-4746-01A-01D-1408-10 TCGA-CM-4746-10A-01D-1408-10 g.chr7:102112914C>A c.1548C>A c.(1546-1548)agC>agA p.S516R COADREAD 7 102112955 102112955 + Frame_Shift_Del DEL G G - TCGA-DM-A1HB-01A-21D-A183-10 TCGA-DM-A1HB-10A-01D-A183-10 g.chr7:102112955delG c.1589delG c.(1588-1590)tggfs p.W530fs COADREAD 7 102113192 102113192 + Missense_Mutation SNP G G A TCGA-CM-6162-01A-11D-1650-10 TCGA-CM-6162-10A-01D-1650-10 g.chr7:102113192G>A c.1744G>A c.(1744-1746)Gtc>Atc p.V582I COADREAD 7 102113452 102113452 + Missense_Mutation SNP G G A TCGA-AA-3516-01A-02W-0833-10 TCGA-AA-3516-10A-01W-0833-10 g.chr7:102113452G>A c.1900G>A c.(1900-1902)Gcc>Acc p.A634T DLBC 7 102106459 102106459 + Silent SNP G G A TCGA-G8-6324-01A-11D-2210-10 TCGA-G8-6324-10A-01D-2210-10 g.chr7:102106459G>A c.276G>A c.(274-276)aaG>aaA p.K92K DLBC 7 102112914 102112914 + Silent SNP C C T TCGA-G8-6914-01A-11D-2210-10 TCGA-G8-6914-14A-01D-2210-10 g.chr7:102112914C>T c.1548C>T c.(1546-1548)agC>agT p.S516S DLBC 7 102113388 102113388 + Silent SNP C C A TCGA-GS-A9TZ-01A-11D-A38X-10 TCGA-GS-A9TZ-10A-01D-A38X-10 g.chr7:102113388C>A c.1836C>A c.(1834-1836)ggC>ggA p.G612G ESCA 7 102109466 102109466 + Silent SNP C C T TCGA-JY-A93E-01A-11D-A37C-09 TCGA-JY-A93E-10A-01D-A37F-09 g.chr7:102109466C>T c.1185C>T c.(1183-1185)atC>atT p.I395I GBM 7 102106371 102106371 + Missense_Mutation SNP C C T TCGA-02-2485-01A-01D-1494-08 TCGA-02-2485-10A-01D-1494-08 g.chr7:102106371C>T c.188C>T c.(187-189)cCg>cTg p.P63L GBMLGG 7 102106371 102106371 + Missense_Mutation SNP C C T TCGA-02-2485-01A-01D-1494-08 TCGA-02-2485-10A-01D-1494-08 g.chr7:102106371C>T c.188C>T c.(187-189)cCg>cTg p.P63L GBMLGG 7 102106493 102106493 + Missense_Mutation SNP C C A TCGA-DU-6392-01A-11D-1705-08 TCGA-DU-6392-10A-01D-1705-08 g.chr7:102106493C>A c.310C>A c.(310-312)Ctg>Atg p.L104M GBMLGG 7 102110021 102110021 + Splice_Site SNP C C T TCGA-DU-6392-01A-11D-1705-08 TCGA-DU-6392-10A-01D-1705-08 g.chr7:102110021C>T c.1229C>T c.(1228-1230)aCg>aTg p.T410M HNSC 7 102106340 102106340 + Missense_Mutation SNP G G T TCGA-D6-A6EN-01A-11D-A31L-08 TCGA-D6-A6EN-10A-01D-A31J-08 g.chr7:102106340G>T c.157G>T c.(157-159)Gac>Tac p.D53Y KIPAN 7 102106463 102106463 + Nonsense_Mutation SNP G G T TCGA-CZ-5984-01A-11D-1669-08 TCGA-CZ-5984-11A-01D-1669-08 g.chr7:102106463G>T c.280G>T c.(280-282)Gag>Tag p.E94* KIPAN 7 102108717 102108717 + Missense_Mutation SNP T T A TCGA-2Z-A9J1-01A-11D-A382-10 TCGA-2Z-A9J1-10A-01D-A385-10 g.chr7:102108717T>A c.812T>A c.(811-813)gTg>gAg p.V271E KIPAN 7 102108803 102108803 + Missense_Mutation SNP T T A TCGA-B2-5633-01A-01D-1534-10 TCGA-B2-5633-10A-01D-1535-10 g.chr7:102108803T>A c.898T>A c.(898-900)Ttc>Atc p.F300I KIPAN 7 102110042 102110043 + Missense_Mutation DNP TC TC GA TCGA-BQ-5890-01A-11D-1589-08 TCGA-BQ-5890-11A-01D-1589-08 g.chr7:102110042_102110043TC>GA c.1250_1251TC>GA c.(1249-1251)aTC>aGA p.I417R KIRC 7 102106463 102106463 + Nonsense_Mutation SNP G G T TCGA-CZ-5984-01A-11D-1669-08 TCGA-CZ-5984-11A-01D-1669-08 g.chr7:102106463G>T c.280G>T c.(280-282)Gag>Tag p.E94* KIRC 7 102108803 102108803 + Missense_Mutation SNP T T A TCGA-B2-5633-01A-01D-1534-10 TCGA-B2-5633-10A-01D-1535-10 g.chr7:102108803T>A c.898T>A c.(898-900)Ttc>Atc p.F300I KIRP 7 102108717 102108717 + Missense_Mutation SNP T T A TCGA-2Z-A9J1-01A-11D-A382-10 TCGA-2Z-A9J1-10A-01D-A385-10 g.chr7:102108717T>A c.812T>A c.(811-813)gTg>gAg p.V271E KIRP 7 102110042 102110043 + Missense_Mutation DNP TC TC GA TCGA-BQ-5890-01A-11D-1589-08 TCGA-BQ-5890-11A-01D-1589-08 g.chr7:102110042_102110043TC>GA c.1250_1251TC>GA c.(1249-1251)aTC>aGA p.I417R LAML 7 102106693 102106693 + Missense_Mutation SNP C C A TCGA-AB-2988-03A-01D-0739-09 TCGA-AB-2988-11A-01D-0739-09 g.chr7:102106693C>A c.408C>A c.(406-408)aaC>aaA p.N136K LGG 7 102106493 102106493 + Missense_Mutation SNP C C A TCGA-DU-6392-01A-11D-1705-08 TCGA-DU-6392-10A-01D-1705-08 g.chr7:102106493C>A c.310C>A c.(310-312)Ctg>Atg p.L104M LGG 7 102110021 102110021 + Splice_Site SNP C C T TCGA-DU-6392-01A-11D-1705-08 TCGA-DU-6392-10A-01D-1705-08 g.chr7:102110021C>T c.1229C>T c.(1228-1230)aCg>aTg p.T410M LIHC 7 102108549 102108549 + Missense_Mutation SNP T T G TCGA-HP-A5N0-01A-11D-A28X-10 TCGA-HP-A5N0-10A-01D-A28X-10 g.chr7:102108549T>G c.719T>G c.(718-720)cTc>cGc p.L240R LIHC 7 102110227 102110227 + Missense_Mutation SNP G G A TCGA-ES-A2HT-01A-12D-A183-10 TCGA-ES-A2HT-11A-11D-A183-10 g.chr7:102110227G>A c.1340G>A c.(1339-1341)cGc>cAc p.R447H LIHC 7 102113247 102113247 + Missense_Mutation SNP C C T TCGA-CC-A3M9-01A-11D-A20W-10 TCGA-CC-A3M9-10A-01D-A20W-10 g.chr7:102113247C>T c.1799C>T c.(1798-1800)aCa>aTa p.T600I LUAD 7 102108574 102108574 + Silent SNP G G T TCGA-97-7554-01A-11D-2036-08 TCGA-97-7554-10A-01D-2036-08 g.chr7:102108574G>T c.744G>T c.(742-744)gcG>gcT p.A248A LUAD 7 102108635 102108635 + Splice_Site SNP G G C TCGA-05-4424-01A-22D-1855-08 TCGA-05-4424-10A-01D-1855-08 g.chr7:102108635G>C c.e6+1 LUAD 7 102110022 102110022 + Splice_Site SNP G G A TCGA-17-Z022-01A-01W-0746-08 TCGA-17-Z022-11A-01W-0746-08 g.chr7:102110022G>A c.1230G>A c.(1228-1230)acG>acA p.T410T LUSC 7 102106347 102106347 + Missense_Mutation SNP C C T TCGA-18-3409-01A-01D-0983-08 TCGA-18-3409-11A-01D-0983-08 g.chr7:102106347C>T c.164C>T c.(163-165)tCt>tTt p.S55F LUSC 7 102108810 102108810 + Missense_Mutation SNP C C T TCGA-66-2800-01A-01D-1267-08 TCGA-66-2800-11A-01D-1267-08 g.chr7:102108810C>T c.905C>T c.(904-906)cCg>cTg p.P302L OV 7 102113192 102113192 + Missense_Mutation SNP G G A TCGA-36-2540-01A-01D-1526-09 TCGA-36-2540-10A-01D-1526-09 g.chr7:102113192G>A c.1744G>A c.(1744-1746)Gtc>Atc p.V582I PAAD 7 102106440 102106440 + Missense_Mutation SNP C C T TCGA-IB-7651-01A-11D-2154-08 TCGA-IB-7651-10A-01D-2154-08 g.chr7:102106440C>T c.257C>T c.(256-258)gCc>gTc p.A86V PAAD 7 102107909 102107909 + Missense_Mutation SNP G G A TCGA-IB-7651-01A-11D-2154-08 TCGA-IB-7651-10A-01D-2154-08 g.chr7:102107909G>A c.556G>A c.(556-558)Gag>Aag p.E186K PAAD 7 102113476 102113476 + Missense_Mutation SNP G G A TCGA-IB-7651-01A-11D-2154-08 TCGA-IB-7651-10A-01D-2154-08 g.chr7:102113476G>A c.1924G>A c.(1924-1926)Gcc>Acc p.A642T PRAD 7 102106412 102106412 + Missense_Mutation SNP G G A TCGA-XK-AAIW-01A-11D-A41K-08 TCGA-XK-AAIW-10A-01D-A41N-08 g.chr7:102106412G>A c.229G>A c.(229-231)Gcc>Acc p.A77T READ 7 102106371 102106371 + Missense_Mutation SNP C C T TCGA-AG-A020-01A-21W-A096-10 TCGA-AG-A020-11A-11W-A096-10 g.chr7:102106371C>T c.188C>T c.(187-189)cCg>cTg p.P63L SKCM 7 102106288 102106288 + Silent SNP C C T TCGA-EE-A181-06A-11D-A196-08 TCGA-EE-A181-10A-01D-A198-08 g.chr7:102106288C>T c.105C>T c.(103-105)tcC>tcT p.S35S SKCM 7 102106487 102106487 + Missense_Mutation SNP C C T TCGA-D9-A1JW-06A-11D-A19A-08 TCGA-D9-A1JW-10A-01D-A19A-08 g.chr7:102106487C>T c.304C>T c.(304-306)Ccc>Tcc p.P102S SKCM 7 102106642 102106642 + Silent SNP C C T TCGA-EE-A29V-06A-12D-A197-08 TCGA-EE-A29V-10A-01D-A199-08 g.chr7:102106642C>T c.357C>T c.(355-357)ctC>ctT p.L119L SKCM 7 102107895 102107895 + Missense_Mutation SNP C C T TCGA-D9-A6EC-06A-11D-A30X-08 TCGA-D9-A6EC-10A-01D-A30X-08 g.chr7:102107895C>T c.542C>T c.(541-543)cCc>cTc p.P181L SKCM 7 102108588 102108588 + Missense_Mutation SNP C C T TCGA-EE-A2GU-06A-11D-A196-08 TCGA-EE-A2GU-10A-01D-A198-08 g.chr7:102108588C>T c.758C>T c.(757-759)tCg>tTg p.S253L SKCM 7 102108811 102108811 + Silent SNP G G A TCGA-GN-A26A-06A-11D-A19A-08 TCGA-GN-A26A-10A-01D-A19A-08 g.chr7:102108811G>A c.906G>A c.(904-906)ccG>ccA p.P302P SKCM 7 102109094 102109094 + Missense_Mutation SNP C C T TCGA-GN-A265-06A-21D-A197-08 TCGA-GN-A265-10A-01D-A199-08 g.chr7:102109094C>T c.1013C>T c.(1012-1014)cCc>cTc p.P338L SKCM 7 102110281 102110281 + Missense_Mutation SNP G G A TCGA-EE-A2MI-06A-11D-A197-08 TCGA-EE-A2MI-10A-01D-A199-08 g.chr7:102110281G>A c.1394G>A c.(1393-1395)gGc>gAc p.G465D SKCM 7 102112964 102112964 + Missense_Mutation SNP G G A TCGA-DA-A3F8-06A-11D-A20D-08 TCGA-DA-A3F8-10A-01D-A20D-08 g.chr7:102112964G>A c.1598G>A c.(1597-1599)cGg>cAg p.R533Q SKCM 7 102113410 102113410 + Missense_Mutation SNP G G A TCGA-EE-A29M-06A-11D-A196-08 TCGA-EE-A29M-10A-01D-A198-08 g.chr7:102113410G>A c.1858G>A c.(1858-1860)Gtg>Atg p.V620M

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 102106340 102106340 single base substitution G A 3_prime_UTR_variant BLCA-US 7 102106340 102106340 single base substitution G A exon_variant BLCA-US 7 102106340 102106340 single base substitution G A missense_variant D53N 157G>A BLCA-US 7 102106340 102106340 single base substitution G A upstream_gene_variant BOCA-FR 7 102109424 102109424 single base substitution C T downstream_gene_variant BOCA-FR 7 102109424 102109424 single base substitution C T exon_variant BOCA-FR 7 102109424 102109424 single base substitution C T synonymous_variant A381A 1143C>T BOCA-FR 7 102109424 102109424 single base substitution C T upstream_gene_variant BOCA-FR 7 102115691 102115691 single base substitution G A downstream_gene_variant BRCA-EU 7 102100726 102100726 single base substitution C T upstream_gene_variant BRCA-EU 7 102101631 102101631 single base substitution A T upstream_gene_variant BRCA-EU 7 102101643 102101643 single base substitution G A upstream_gene_variant BRCA-EU 7 102102928 102102928 single base substitution C G upstream_gene_variant BRCA-EU 7 102103105 102103105 single base substitution G A upstream_gene_variant BRCA-EU 7 102104914 102104914 single base substitution G C upstream_gene_variant BRCA-EU 7 102106886 102106886 single base substitution G C downstream_gene_variant BRCA-EU 7 102106886 102106886 single base substitution G C intron_variant BRCA-EU 7 102106886 102106886 single base substitution G C upstream_gene_variant BRCA-EU 7 102106918 102106918 single base substitution G A downstream_gene_variant BRCA-EU 7 102106918 102106918 single base substitution G A intron_variant BRCA-EU 7 102106918 102106918 single base substitution G A upstream_gene_variant BRCA-EU 7 102108675 102108675 single base substitution G C downstream_gene_variant BRCA-EU 7 102108675 102108675 single base substitution G C exon_variant BRCA-EU 7 102108675 102108675 single base substitution G C intron_variant BRCA-EU 7 102108675 102108675 single base substitution G C upstream_gene_variant BRCA-EU 7 102108946 102108946 single base substitution G C downstream_gene_variant BRCA-EU 7 102108946 102108946 single base substitution G C exon_variant BRCA-EU 7 102108946 102108946 single base substitution G C intron_variant BRCA-EU 7 102108946 102108946 single base substitution G C upstream_gene_variant BRCA-EU 7 102111620 102111620 single base substitution C G downstream_gene_variant BRCA-EU 7 102111620 102111620 single base substitution C G exon_variant BRCA-EU 7 102111620 102111620 single base substitution C G intron_variant BRCA-EU 7 102111970 102111970 single base substitution C T downstream_gene_variant BRCA-EU 7 102111970 102111970 single base substitution C T exon_variant BRCA-EU 7 102111970 102111970 single base substitution C T intron_variant BRCA-EU 7 102112988 102112988 single base substitution T A downstream_gene_variant BRCA-EU 7 102112988 102112988 single base substitution T A exon_variant BRCA-EU 7 102112988 102112988 single base substitution T A missense_variant V126E 377T>A BRCA-EU 7 102112988 102112988 single base substitution T A missense_variant V541E 1622T>A BRCA-EU 7 102113907 102113907 single base substitution C G downstream_gene_variant BRCA-EU 7 102116924 102116924 single base substitution A G downstream_gene_variant BRCA-EU 7 102116988 102116988 single base substitution G A downstream_gene_variant BRCA-EU 7 102117354 102117354 single base substitution C T downstream_gene_variant BRCA-EU 7 102117355 102117355 single base substitution T A downstream_gene_variant BRCA-EU 7 102117993 102117993 single base substitution A G downstream_gene_variant BRCA-FR 7 102101631 102101631 single base substitution A T upstream_gene_variant BRCA-FR 7 102101643 102101643 single base substitution G A upstream_gene_variant BRCA-FR 7 102103764 102103764 single base substitution C T upstream_gene_variant BRCA-FR 7 102104914 102104914 single base substitution G C upstream_gene_variant BRCA-FR 7 102113907 102113907 single base substitution C G downstream_gene_variant BRCA-FR 7 102116497 102116497 single base substitution T C downstream_gene_variant BRCA-FR 7 102116988 102116988 single base substitution G A downstream_gene_variant BRCA-KR 7 102107828 102107828 single base substitution G A 3_prime_UTR_variant BRCA-KR 7 102107828 102107828 single base substitution G A downstream_gene_variant BRCA-KR 7 102107828 102107828 single base substitution G A exon_variant BRCA-KR 7 102107828 102107828 single base substitution G A missense_variant E159K 475G>A BRCA-KR 7 102107828 102107828 single base substitution G A upstream_gene_variant BRCA-UK 7 102102928 102102928 single base substitution C G upstream_gene_variant BRCA-UK 7 102108949 102108949 single base substitution C A downstream_gene_variant BRCA-UK 7 102108949 102108949 single base substitution C A exon_variant BRCA-UK 7 102108949 102108949 single base substitution C A intron_variant BRCA-UK 7 102108949 102108949 single base substitution C A upstream_gene_variant BRCA-US 7 102108194 102108194 single base substitution C T 3_prime_UTR_variant BRCA-US 7 102108194 102108194 single base substitution C T downstream_gene_variant BRCA-US 7 102108194 102108194 single base substitution C T exon_variant BRCA-US 7 102108194 102108194 single base substitution C T missense_variant A201V 602C>T BRCA-US 7 102108194 102108194 single base substitution C T upstream_gene_variant BRCA-US 7 102108582 102108582 single base substitution C T 3_prime_UTR_variant BRCA-US 7 102108582 102108582 single base substitution C T downstream_gene_variant BRCA-US 7 102108582 102108582 single base substitution C T exon_variant BRCA-US 7 102108582 102108582 single base substitution C T missense_variant S251F 752C>T BRCA-US 7 102108582 102108582 single base substitution C T upstream_gene_variant BRCA-US 7 102108766 102108766 deletion of <=200bp C - 3_prime_UTR_variant BRCA-US 7 102108766 102108766 deletion of <=200bp C - downstream_gene_variant BRCA-US 7 102108766 102108766 deletion of <=200bp C - exon_variant BRCA-US 7 102108766 102108766 deletion of <=200bp C - frameshift_variant S287 BRCA-US 7 102108766 102108766 deletion of <=200bp C - upstream_gene_variant BRCA-US 7 102116678 102116678 single base substitution A G downstream_gene_variant BRCA-US 7 102116688 102116688 single base substitution G T downstream_gene_variant BTCA-JP 7 102105973 102105973 single base substitution G T intron_variant BTCA-JP 7 102105973 102105973 single base substitution G T splice_region_variant BTCA-JP 7 102105973 102105973 single base substitution G T upstream_gene_variant BTCA-JP 7 102110226 102110226 single base substitution C T downstream_gene_variant BTCA-JP 7 102110226 102110226 single base substitution C T exon_variant BTCA-JP 7 102110226 102110226 single base substitution C T missense_variant R32C 94C>T BTCA-JP 7 102110226 102110226 single base substitution C T missense_variant R447C 1339C>T CESC-US 7 102108530 102108530 single base substitution C T 3_prime_UTR_variant CESC-US 7 102108530 102108530 single base substitution C T downstream_gene_variant CESC-US 7 102108530 102108530 single base substitution C T exon_variant CESC-US 7 102108530 102108530 single base substitution C T missense_variant R234W 700C>T CESC-US 7 102108530 102108530 single base substitution C T upstream_gene_variant CESC-US 7 102108823 102108823 single base substitution G C 3_prime_UTR_variant CESC-US 7 102108823 102108823 single base substitution G C downstream_gene_variant CESC-US 7 102108823 102108823 single base substitution G C exon_variant CESC-US 7 102108823 102108823 single base substitution G C missense_variant E306D 918G>C CESC-US 7 102108823 102108823 single base substitution G C splice_region_variant CESC-US 7 102108823 102108823 single base substitution G C upstream_gene_variant CLLE-ES 7 102105688 102105688 single base substitution C T intron_variant CLLE-ES 7 102105688 102105688 single base substitution C T upstream_gene_variant CLLE-ES 7 102107575 102107575 single base substitution T G downstream_gene_variant CLLE-ES 7 102107575 102107575 single base substitution T G intron_variant CLLE-ES 7 102107575 102107575 single base substitution T G upstream_gene_variant COAD-US 7 102106288 102106288 single base substitution C T 3_prime_UTR_variant COAD-US 7 102106288 102106288 single base substitution C T exon_variant COAD-US 7 102106288 102106288 single base substitution C T synonymous_variant S35S 105C>T COAD-US 7 102106288 102106288 single base substitution C T upstream_gene_variant COAD-US 7 102107870 102107870 single base substitution G A 3_prime_UTR_variant COAD-US 7 102107870 102107870 single base substitution G A downstream_gene_variant COAD-US 7 102107870 102107870 single base substitution G A exon_variant COAD-US 7 102107870 102107870 single base substitution G A missense_variant A173T 517G>A COAD-US 7 102107870 102107870 single base substitution G A upstream_gene_variant COAD-US 7 102108195 102108195 single base substitution C T 3_prime_UTR_variant COAD-US 7 102108195 102108195 single base substitution C T downstream_gene_variant COAD-US 7 102108195 102108195 single base substitution C T exon_variant COAD-US 7 102108195 102108195 single base substitution C T synonymous_variant A201A 603C>T COAD-US 7 102108195 102108195 single base substitution C T upstream_gene_variant COAD-US 7 102110021 102110021 single base substitution C T downstream_gene_variant COAD-US 7 102110021 102110021 single base substitution C T missense_variant T410M 1229C>T COAD-US 7 102110021 102110021 single base substitution C T splice_region_variant COAD-US 7 102110021 102110021 single base substitution C T upstream_gene_variant COAD-US 7 102110270 102110270 single base substitution C T downstream_gene_variant COAD-US 7 102110270 102110270 single base substitution C T exon_variant COAD-US 7 102110270 102110270 single base substitution C T synonymous_variant A461A 1383C>T COAD-US 7 102110270 102110270 single base substitution C T synonymous_variant A46A 138C>T COAD-US 7 102112683 102112683 single base substitution C T downstream_gene_variant COAD-US 7 102112683 102112683 single base substitution C T exon_variant COAD-US 7 102112683 102112683 single base substitution C T synonymous_variant F487F 1461C>T COAD-US 7 102112683 102112683 single base substitution C T synonymous_variant F72F 216C>T COAD-US 7 102112914 102112914 single base substitution C A downstream_gene_variant COAD-US 7 102112914 102112914 single base substitution C A exon_variant COAD-US 7 102112914 102112914 single base substitution C A missense_variant S101R 303C>A COAD-US 7 102112914 102112914 single base substitution C A missense_variant S516R 1548C>A COAD-US 7 102112980 102112980 single base substitution G A downstream_gene_variant COAD-US 7 102112980 102112980 single base substitution G A exon_variant COAD-US 7 102112980 102112980 single base substitution G A synonymous_variant T123T 369G>A COAD-US 7 102112980 102112980 single base substitution G A synonymous_variant T538T 1614G>A COAD-US 7 102113192 102113192 single base substitution G A downstream_gene_variant COAD-US 7 102113192 102113192 single base substitution G A exon_variant COAD-US 7 102113192 102113192 single base substitution G A missense_variant V167I 499G>A COAD-US 7 102113192 102113192 single base substitution G A missense_variant V582I 1744G>A COAD-US 7 102113226 102113226 single base substitution C T downstream_gene_variant COAD-US 7 102113226 102113226 single base substitution C T exon_variant COAD-US 7 102113226 102113226 single base substitution C T missense_variant P178L 533C>T COAD-US 7 102113226 102113226 single base substitution C T missense_variant P593L 1778C>T COCA-CN 7 102106455 102106455 single base substitution C T 3_prime_UTR_variant COCA-CN 7 102106455 102106455 single base substitution C T exon_variant COCA-CN 7 102106455 102106455 single base substitution C T missense_variant P91L 272C>T COCA-CN 7 102106455 102106455 single base substitution C T upstream_gene_variant COCA-CN 7 102107620 102107620 single base substitution T G downstream_gene_variant COCA-CN 7 102107620 102107620 single base substitution T G intron_variant COCA-CN 7 102107620 102107620 single base substitution T G upstream_gene_variant COCA-CN 7 102108196 102108196 single base substitution G A 3_prime_UTR_variant COCA-CN 7 102108196 102108196 single base substitution G A downstream_gene_variant COCA-CN 7 102108196 102108196 single base substitution G A exon_variant COCA-CN 7 102108196 102108196 single base substitution G A missense_variant A202T 604G>A COCA-CN 7 102108196 102108196 single base substitution G A upstream_gene_variant COCA-CN 7 102109025 102109025 single base substitution C T downstream_gene_variant COCA-CN 7 102109025 102109025 single base substitution C T exon_variant COCA-CN 7 102109025 102109025 single base substitution C T missense_variant T315M 944C>T COCA-CN 7 102109025 102109025 single base substitution C T upstream_gene_variant COCA-CN 7 102113985 102113985 single base substitution A C downstream_gene_variant COCA-CN 7 102114957 102114957 single base substitution G A downstream_gene_variant COCA-CN 7 102115212 102115212 single base substitution C G downstream_gene_variant COCA-CN 7 102116384 102116384 single base substitution C A downstream_gene_variant ESAD-UK 7 102101083 102101083 single base substitution A C upstream_gene_variant ESAD-UK 7 102102150 102102150 single base substitution C A upstream_gene_variant ESAD-UK 7 102103302 102103302 single base substitution C T upstream_gene_variant ESAD-UK 7 102103836 102103836 single base substitution G A upstream_gene_variant ESAD-UK 7 102103964 102103964 single base substitution G A upstream_gene_variant ESAD-UK 7 102109487 102109487 single base substitution C T downstream_gene_variant ESAD-UK 7 102109487 102109487 single base substitution C T exon_variant ESAD-UK 7 102109487 102109487 single base substitution C T synonymous_variant P402P 1206C>T ESAD-UK 7 102109487 102109487 single base substitution C T upstream_gene_variant ESAD-UK 7 102109660 102109660 single base substitution C T downstream_gene_variant ESAD-UK 7 102109660 102109660 single base substitution C T intron_variant ESAD-UK 7 102109660 102109660 single base substitution C T upstream_gene_variant ESAD-UK 7 102111463 102111463 deletion of <=200bp C - downstream_gene_variant ESAD-UK 7 102111463 102111463 deletion of <=200bp C - exon_variant ESAD-UK 7 102111463 102111463 deletion of <=200bp C - intron_variant ESAD-UK 7 102113469 102113469 single base substitution C A downstream_gene_variant ESAD-UK 7 102113469 102113469 single base substitution C A exon_variant ESAD-UK 7 102113469 102113469 single base substitution C A missense_variant N233K 699C>A ESAD-UK 7 102113469 102113469 single base substitution C A missense_variant N639K 1917C>A ESAD-UK 7 102113616 102113616 single base substitution G T downstream_gene_variant ESAD-UK 7 102113822 102113822 single base substitution C G downstream_gene_variant ESCA-CN 7 102108181 102108181 single base substitution G A 3_prime_UTR_variant ESCA-CN 7 102108181 102108181 single base substitution G A downstream_gene_variant ESCA-CN 7 102108181 102108181 single base substitution G A exon_variant ESCA-CN 7 102108181 102108181 single base substitution G A missense_variant E197K 589G>A ESCA-CN 7 102108181 102108181 single base substitution G A upstream_gene_variant ESCA-CN 7 102108759 102108759 single base substitution A T 3_prime_UTR_variant ESCA-CN 7 102108759 102108759 single base substitution A T downstream_gene_variant ESCA-CN 7 102108759 102108759 single base substitution A T exon_variant ESCA-CN 7 102108759 102108759 single base substitution A T missense_variant N285I 854A>T ESCA-CN 7 102108759 102108759 single base substitution A T upstream_gene_variant ESCA-CN 7 102114825 102114825 single base substitution G T downstream_gene_variant GACA-CN 7 102112696 102112696 single base substitution G T downstream_gene_variant GACA-CN 7 102112696 102112696 single base substitution G T exon_variant GACA-CN 7 102112696 102112696 single base substitution G T missense_variant G492C 1474G>T GACA-CN 7 102112696 102112696 single base substitution G T missense_variant G77C 229G>T GBM-US 7 102106371 102106371 single base substitution C T 3_prime_UTR_variant GBM-US 7 102106371 102106371 single base substitution C T exon_variant GBM-US 7 102106371 102106371 single base substitution C T missense_variant P63L 188C>T GBM-US 7 102106371 102106371 single base substitution C T upstream_gene_variant GBM-US 7 102106694 102106694 single base substitution C T 3_prime_UTR_variant GBM-US 7 102106694 102106694 single base substitution C T exon_variant GBM-US 7 102106694 102106694 single base substitution C T synonymous_variant L137L 409C>T GBM-US 7 102106694 102106694 single base substitution C T upstream_gene_variant KIRC-US 7 102106463 102106463 single base substitution G T 3_prime_UTR_variant KIRC-US 7 102106463 102106463 single base substitution G T exon_variant KIRC-US 7 102106463 102106463 single base substitution G T stop_gained E94* 280G>T KIRC-US 7 102106463 102106463 single base substitution G T upstream_gene_variant KIRC-US 7 102108803 102108803 single base substitution T A 3_prime_UTR_variant KIRC-US 7 102108803 102108803 single base substitution T A downstream_gene_variant KIRC-US 7 102108803 102108803 single base substitution T A exon_variant KIRC-US 7 102108803 102108803 single base substitution T A missense_variant F300I 898T>A KIRC-US 7 102108803 102108803 single base substitution T A upstream_gene_variant KIRP-US 7 102110042 102110042 single base substitution T G downstream_gene_variant KIRP-US 7 102110042 102110042 single base substitution T G exon_variant KIRP-US 7 102110042 102110042 single base substitution T G missense_variant I2S 5T>G KIRP-US 7 102110042 102110042 single base substitution T G missense_variant I417S 1250T>G KIRP-US 7 102110043 102110043 single base substitution C A downstream_gene_variant KIRP-US 7 102110043 102110043 single base substitution C A exon_variant KIRP-US 7 102110043 102110043 single base substitution C A synonymous_variant I2I 6C>A KIRP-US 7 102110043 102110043 single base substitution C A synonymous_variant I417I 1251C>A LAML-KR 7 102106902 102106902 single base substitution C T downstream_gene_variant LAML-KR 7 102106902 102106902 single base substitution C T intron_variant LAML-KR 7 102106902 102106902 single base substitution C T upstream_gene_variant LAML-KR 7 102115880 102115880 single base substitution C T downstream_gene_variant LAML-KR 7 102116232 102116232 single base substitution C T downstream_gene_variant LAML-KR 7 102116666 102116666 single base substitution G C downstream_gene_variant LICA-CN 7 102107909 102107909 single base substitution G T 3_prime_UTR_variant LICA-CN 7 102107909 102107909 single base substitution G T downstream_gene_variant LICA-CN 7 102107909 102107909 single base substitution G T exon_variant LICA-CN 7 102107909 102107909 single base substitution G T stop_gained E186* 556G>T LICA-CN 7 102107909 102107909 single base substitution G T upstream_gene_variant LICA-FR 7 102115487 102115487 single base substitution C T downstream_gene_variant LICA-FR 7 102116198 102116198 single base substitution A G downstream_gene_variant LICA-FR 7 102116377 102116377 single base substitution A G downstream_gene_variant LICA-FR 7 102116905 102116905 single base substitution C T downstream_gene_variant LIHC-US 7 102108549 102108549 single base substitution T G 3_prime_UTR_variant LIHC-US 7 102108549 102108549 single base substitution T G downstream_gene_variant LIHC-US 7 102108549 102108549 single base substitution T G exon_variant LIHC-US 7 102108549 102108549 single base substitution T G missense_variant L240R 719T>G LIHC-US 7 102108549 102108549 single base substitution T G upstream_gene_variant LIHC-US 7 102113247 102113247 single base substitution C T downstream_gene_variant LIHC-US 7 102113247 102113247 single base substitution C T exon_variant LIHC-US 7 102113247 102113247 single base substitution C T missense_variant T185I 554C>T LIHC-US 7 102113247 102113247 single base substitution C T missense_variant T600I 1799C>T LINC-JP 7 102105268 102105275 deletion of <=200bp CGGCAGCC - upstream_gene_variant LINC-JP 7 102105973 102105973 single base substitution G T intron_variant LINC-JP 7 102105973 102105973 single base substitution G T splice_region_variant LINC-JP 7 102105973 102105973 single base substitution G T upstream_gene_variant LINC-JP 7 102106873 102106873 single base substitution A T downstream_gene_variant LINC-JP 7 102106873 102106873 single base substitution A T intron_variant LINC-JP 7 102106873 102106873 single base substitution A T upstream_gene_variant LINC-JP 7 102109616 102109616 single base substitution C T downstream_gene_variant LINC-JP 7 102109616 102109616 single base substitution C T intron_variant LINC-JP 7 102109616 102109616 single base substitution C T upstream_gene_variant LINC-JP 7 102110853 102110853 single base substitution G A downstream_gene_variant LINC-JP 7 102110853 102110853 single base substitution G A exon_variant LINC-JP 7 102110853 102110853 single base substitution G A intron_variant LINC-JP 7 102111816 102111816 single base substitution G A downstream_gene_variant LINC-JP 7 102111816 102111816 single base substitution G A exon_variant LINC-JP 7 102111816 102111816 single base substitution G A intron_variant LINC-JP 7 102113177 102113177 single base substitution G C downstream_gene_variant LINC-JP 7 102113177 102113177 single base substitution G C exon_variant LINC-JP 7 102113177 102113177 single base substitution G C missense_variant V162L 484G>C LINC-JP 7 102113177 102113177 single base substitution G C missense_variant V577L 1729G>C LINC-JP 7 102113573 102113573 single base substitution T C 3_prime_UTR_variant LINC-JP 7 102113573 102113573 single base substitution T C downstream_gene_variant LINC-JP 7 102113573 102113573 single base substitution T C exon_variant LINC-JP 7 102113988 102113988 single base substitution G T downstream_gene_variant LINC-JP 7 102114335 102114335 single base substitution C T downstream_gene_variant LIRI-JP 7 102102138 102102138 single base substitution C T upstream_gene_variant LIRI-JP 7 102102192 102102192 single base substitution T C upstream_gene_variant LIRI-JP 7 102103495 102103495 single base substitution C A upstream_gene_variant LIRI-JP 7 102106398 102106398 single base substitution G A 3_prime_UTR_variant LIRI-JP 7 102106398 102106398 single base substitution G A exon_variant LIRI-JP 7 102106398 102106398 single base substitution G A missense_variant R72H 215G>A LIRI-JP 7 102106398 102106398 single base substitution G A upstream_gene_variant LIRI-JP 7 102106939 102106939 single base substitution G A downstream_gene_variant LIRI-JP 7 102106939 102106939 single base substitution G A intron_variant LIRI-JP 7 102106939 102106939 single base substitution G A upstream_gene_variant LIRI-JP 7 102112752 102112752 single base substitution C T downstream_gene_variant LIRI-JP 7 102112752 102112752 single base substitution C T exon_variant LIRI-JP 7 102112752 102112752 single base substitution C T synonymous_variant I510I 1530C>T LIRI-JP 7 102112752 102112752 single base substitution C T synonymous_variant I95I 285C>T LUSC-KR 7 102108012 102108012 single base substitution G C downstream_gene_variant LUSC-KR 7 102108012 102108012 single base substitution G C intron_variant LUSC-KR 7 102108012 102108012 single base substitution G C upstream_gene_variant LUSC-KR 7 102108550 102108550 single base substitution C G 3_prime_UTR_variant LUSC-KR 7 102108550 102108550 single base substitution C G downstream_gene_variant LUSC-KR 7 102108550 102108550 single base substitution C G exon_variant LUSC-KR 7 102108550 102108550 single base substitution C G synonymous_variant L240L 720C>G LUSC-KR 7 102108550 102108550 single base substitution C G upstream_gene_variant LUSC-KR 7 102109508 102109508 single base substitution C T downstream_gene_variant LUSC-KR 7 102109508 102109508 single base substitution C T splice_region_variant LUSC-KR 7 102109508 102109508 single base substitution C T upstream_gene_variant LUSC-KR 7 102111155 102111155 single base substitution G C downstream_gene_variant LUSC-KR 7 102111155 102111155 single base substitution G C exon_variant LUSC-KR 7 102111155 102111155 single base substitution G C intron_variant LUSC-KR 7 102112980 102112980 single base substitution G A downstream_gene_variant LUSC-KR 7 102112980 102112980 single base substitution G A exon_variant LUSC-KR 7 102112980 102112980 single base substitution G A synonymous_variant T123T 369G>A LUSC-KR 7 102112980 102112980 single base substitution G A synonymous_variant T538T 1614G>A LUSC-KR 7 102113256 102113256 single base substitution T C downstream_gene_variant LUSC-KR 7 102113256 102113256 single base substitution T C exon_variant LUSC-KR 7 102113256 102113256 single base substitution T C splice_region_variant LUSC-KR 7 102113543 102113543 single base substitution C G 3_prime_UTR_variant LUSC-KR 7 102113543 102113543 single base substitution C G downstream_gene_variant LUSC-KR 7 102113543 102113543 single base substitution C G exon_variant LUSC-KR 7 102114087 102114087 single base substitution C T downstream_gene_variant LUSC-KR 7 102114090 102114090 single base substitution T C downstream_gene_variant LUSC-KR 7 102114750 102114750 single base substitution T C downstream_gene_variant LUSC-KR 7 102115106 102115106 single base substitution T C downstream_gene_variant LUSC-KR 7 102116021 102116021 single base substitution C A downstream_gene_variant LUSC-KR 7 102116198 102116198 single base substitution A G downstream_gene_variant LUSC-KR 7 102116232 102116232 single base substitution C T downstream_gene_variant LUSC-KR 7 102116384 102116384 single base substitution C A downstream_gene_variant LUSC-KR 7 102116908 102116908 single base substitution C T downstream_gene_variant LUSC-US 7 102106347 102106347 single base substitution C T 3_prime_UTR_variant LUSC-US 7 102106347 102106347 single base substitution C T exon_variant LUSC-US 7 102106347 102106347 single base substitution C T missense_variant S55F 164C>T LUSC-US 7 102106347 102106347 single base substitution C T upstream_gene_variant LUSC-US 7 102108810 102108810 single base substitution C T 3_prime_UTR_variant LUSC-US 7 102108810 102108810 single base substitution C T downstream_gene_variant LUSC-US 7 102108810 102108810 single base substitution C T exon_variant LUSC-US 7 102108810 102108810 single base substitution C T missense_variant P302L 905C>T LUSC-US 7 102108810 102108810 single base substitution C T upstream_gene_variant MALY-DE 7 102107758 102107758 single base substitution G A downstream_gene_variant MALY-DE 7 102107758 102107758 single base substitution G A intron_variant MALY-DE 7 102107758 102107758 single base substitution G A upstream_gene_variant MALY-DE 7 102114990 102114990 insertion of <=200bp - C downstream_gene_variant MELA-AU 7 102100910 102100911 multiple base substitution (>=2bp and <=200bp) GG AA upstream_gene_variant MELA-AU 7 102101809 102101809 single base substitution T G upstream_gene_variant MELA-AU 7 102102186 102102186 single base substitution G A upstream_gene_variant MELA-AU 7 102102579 102102580 multiple base substitution (>=2bp and <=200bp) GG AA upstream_gene_variant MELA-AU 7 102102601 102102601 single base substitution G A upstream_gene_variant MELA-AU 7 102102695 102102695 single base substitution G A upstream_gene_variant MELA-AU 7 102102797 102102797 single base substitution G A upstream_gene_variant MELA-AU 7 102103210 102103210 single base substitution C T upstream_gene_variant MELA-AU 7 102103755 102103755 single base substitution G A upstream_gene_variant MELA-AU 7 102103843 102103843 single base substitution C T upstream_gene_variant MELA-AU 7 102104695 102104695 single base substitution A T upstream_gene_variant MELA-AU 7 102104889 102104889 single base substitution C T upstream_gene_variant MELA-AU 7 102105355 102105355 single base substitution G A upstream_gene_variant MELA-AU 7 102105356 102105356 single base substitution G A upstream_gene_variant MELA-AU 7 102105380 102105380 single base substitution C T 5_prime_UTR_variant MELA-AU 7 102105380 102105380 single base substitution C T upstream_gene_variant MELA-AU 7 102105380 102105381 multiple base substitution (>=2bp and <=200bp) CC TT 5_prime_UTR_variant MELA-AU 7 102105380 102105381 multiple base substitution (>=2bp and <=200bp) CC TT upstream_gene_variant MELA-AU 7 102105381 102105381 single base substitution C T 5_prime_UTR_variant MELA-AU 7 102105381 102105381 single base substitution C T upstream_gene_variant MELA-AU 7 102106390 102106390 single base substitution C T 3_prime_UTR_variant MELA-AU 7 102106390 102106390 single base substitution C T exon_variant MELA-AU 7 102106390 102106390 single base substitution C T synonymous_variant S69S 207C>T MELA-AU 7 102106390 102106390 single base substitution C T upstream_gene_variant MELA-AU 7 102106957 102106957 single base substitution G A downstream_gene_variant MELA-AU 7 102106957 102106957 single base substitution G A intron_variant MELA-AU 7 102106957 102106957 single base substitution G A upstream_gene_variant MELA-AU 7 102107258 102107258 single base substitution C T downstream_gene_variant MELA-AU 7 102107258 102107258 single base substitution C T intron_variant MELA-AU 7 102107258 102107258 single base substitution C T upstream_gene_variant MELA-AU 7 102107345 102107354 deletion of <=200bp AGCCTTCTGA - downstream_gene_variant MELA-AU 7 102107345 102107354 deletion of <=200bp AGCCTTCTGA - intron_variant MELA-AU 7 102107345 102107354 deletion of <=200bp AGCCTTCTGA - upstream_gene_variant MELA-AU 7 102107360 102107360 single base substitution T G downstream_gene_variant MELA-AU 7 102107360 102107360 single base substitution T G intron_variant MELA-AU 7 102107360 102107360 single base substitution T G upstream_gene_variant MELA-AU 7 102108442 102108442 single base substitution C T downstream_gene_variant MELA-AU 7 102108442 102108442 single base substitution C T exon_variant MELA-AU 7 102108442 102108442 single base substitution C T intron_variant MELA-AU 7 102108442 102108442 single base substitution C T upstream_gene_variant MELA-AU 7 102109122 102109122 single base substitution C T downstream_gene_variant MELA-AU 7 102109122 102109122 single base substitution C T exon_variant MELA-AU 7 102109122 102109122 single base substitution C T intron_variant MELA-AU 7 102109122 102109122 single base substitution C T upstream_gene_variant MELA-AU 7 102111229 102111229 single base substitution T C downstream_gene_variant MELA-AU 7 102111229 102111229 single base substitution T C exon_variant MELA-AU 7 102111229 102111229 single base substitution T C intron_variant MELA-AU 7 102111395 102111395 single base substitution G A downstream_gene_variant MELA-AU 7 102111395 102111395 single base substitution G A exon_variant MELA-AU 7 102111395 102111395 single base substitution G A intron_variant MELA-AU 7 102112363 102112363 single base substitution C T downstream_gene_variant MELA-AU 7 102112363 102112363 single base substitution C T exon_variant MELA-AU 7 102112363 102112363 single base substitution C T intron_variant MELA-AU 7 102112853 102112854 multiple base substitution (>=2bp and <=200bp) GG AA downstream_gene_variant MELA-AU 7 102112853 102112854 multiple base substitution (>=2bp and <=200bp) GG AA exon_variant MELA-AU 7 102112853 102112854 multiple base substitution (>=2bp and <=200bp) GG AA intron_variant MELA-AU 7 102113779 102113779 single base substitution G A downstream_gene_variant MELA-AU 7 102114755 102114755 single base substitution A G downstream_gene_variant MELA-AU 7 102115627 102115627 single base substitution G A downstream_gene_variant ORCA-IN 7 102109612 102109612 single base substitution C G downstream_gene_variant ORCA-IN 7 102109612 102109612 single base substitution C G intron_variant ORCA-IN 7 102109612 102109612 single base substitution C G upstream_gene_variant ORCA-IN 7 102112602 102112602 single base substitution G T downstream_gene_variant ORCA-IN 7 102112602 102112602 single base substitution G T exon_variant ORCA-IN 7 102112602 102112602 single base substitution G T intron_variant ORCA-IN 7 102113953 102113953 single base substitution G A downstream_gene_variant OV-AU 7 102107738 102107738 single base substitution G T downstream_gene_variant OV-AU 7 102107738 102107738 single base substitution G T intron_variant OV-AU 7 102107738 102107738 single base substitution G T upstream_gene_variant OV-AU 7 102111496 102111496 single base substitution C G downstream_gene_variant OV-AU 7 102111496 102111496 single base substitution C G exon_variant OV-AU 7 102111496 102111496 single base substitution C G intron_variant PACA-AU 7 102100477 102100477 single base substitution T C upstream_gene_variant PACA-AU 7 102101896 102101896 single base substitution C G upstream_gene_variant PACA-AU 7 102107852 102107852 single base substitution G A 3_prime_UTR_variant PACA-AU 7 102107852 102107852 single base substitution G A downstream_gene_variant PACA-AU 7 102107852 102107852 single base substitution G A exon_variant PACA-AU 7 102107852 102107852 single base substitution G A missense_variant A167T 499G>A PACA-AU 7 102107852 102107852 single base substitution G A upstream_gene_variant PACA-AU 7 102115703 102115703 single base substitution G C downstream_gene_variant PACA-CA 7 102101591 102101591 single base substitution C G upstream_gene_variant PACA-CA 7 102102612 102102612 single base substitution G A upstream_gene_variant PACA-CA 7 102102790 102102790 single base substitution C T upstream_gene_variant PACA-CA 7 102103609 102103609 single base substitution G A upstream_gene_variant PACA-CA 7 102107371 102107371 single base substitution G A downstream_gene_variant PACA-CA 7 102107371 102107371 single base substitution G A intron_variant PACA-CA 7 102107371 102107371 single base substitution G A upstream_gene_variant PACA-CA 7 102109836 102109836 single base substitution C G downstream_gene_variant PACA-CA 7 102109836 102109836 single base substitution C G intron_variant PACA-CA 7 102109836 102109836 single base substitution C G upstream_gene_variant PACA-CA 7 102110870 102110871 deletion of <=200bp CA - downstream_gene_variant PACA-CA 7 102110870 102110871 deletion of <=200bp CA - exon_variant PACA-CA 7 102110870 102110871 deletion of <=200bp CA - intron_variant PACA-CA 7 102111377 102111377 insertion of <=200bp - A downstream_gene_variant PACA-CA 7 102111377 102111377 insertion of <=200bp - A exon_variant PACA-CA 7 102111377 102111377 insertion of <=200bp - A intron_variant PACA-CA 7 102113056 102113056 single base substitution G A downstream_gene_variant PACA-CA 7 102113056 102113056 single base substitution G A exon_variant PACA-CA 7 102113056 102113056 single base substitution G A missense_variant D149N 445G>A PACA-CA 7 102113056 102113056 single base substitution G A missense_variant D564N 1690G>A PACA-CA 7 102113192 102113192 single base substitution G A downstream_gene_variant PACA-CA 7 102113192 102113192 single base substitution G A exon_variant PACA-CA 7 102113192 102113192 single base substitution G A missense_variant V167I 499G>A PACA-CA 7 102113192 102113192 single base substitution G A missense_variant V582I 1744G>A PACA-CA 7 102113759 102113759 single base substitution C T downstream_gene_variant PACA-CA 7 102116406 102116406 single base substitution A G downstream_gene_variant PACA-CA 7 102116908 102116908 single base substitution C T downstream_gene_variant PACA-CA 7 102117004 102117004 single base substitution T C downstream_gene_variant PAEN-AU 7 102114286 102114286 single base substitution C A downstream_gene_variant PAEN-IT 7 102106052 102106052 single base substitution C T 3_prime_UTR_variant PAEN-IT 7 102106052 102106052 single base substitution C T intron_variant PAEN-IT 7 102106052 102106052 single base substitution C T upstream_gene_variant PAEN-IT 7 102106269 102106269 single base substitution C A 3_prime_UTR_variant PAEN-IT 7 102106269 102106269 single base substitution C A exon_variant PAEN-IT 7 102106269 102106269 single base substitution C A stop_gained S29* 86C>A PAEN-IT 7 102106269 102106269 single base substitution C A upstream_gene_variant PAEN-IT 7 102106565 102106565 single base substitution C T intron_variant PAEN-IT 7 102106565 102106565 single base substitution C T upstream_gene_variant PBCA-DE 7 102104620 102104620 single base substitution G C upstream_gene_variant PBCA-DE 7 102105415 102105415 single base substitution G A 5_prime_UTR_variant PBCA-DE 7 102105415 102105415 single base substitution G A upstream_gene_variant PBCA-DE 7 102105991 102105991 single base substitution G A exon_variant PBCA-DE 7 102105991 102105991 single base substitution G A intron_variant PBCA-DE 7 102105991 102105991 single base substitution G A upstream_gene_variant PBCA-DE 7 102114990 102114990 insertion of <=200bp - C downstream_gene_variant PRAD-CA 7 102103056 102103056 single base substitution C T upstream_gene_variant PRAD-UK 7 102117285 102117285 single base substitution T C downstream_gene_variant READ-US 7 102105608 102105608 insertion of <=200bp - T exon_variant READ-US 7 102105608 102105608 insertion of <=200bp - T splice_donor_variant READ-US 7 102105608 102105608 insertion of <=200bp - T upstream_gene_variant READ-US 7 102110282 102110282 single base substitution C T downstream_gene_variant READ-US 7 102110282 102110282 single base substitution C T exon_variant READ-US 7 102110282 102110282 single base substitution C T synonymous_variant G465G 1395C>T READ-US 7 102110282 102110282 single base substitution C T synonymous_variant G50G 150C>T READ-US 7 102113001 102113001 single base substitution G A downstream_gene_variant READ-US 7 102113001 102113001 single base substitution G A exon_variant READ-US 7 102113001 102113001 single base substitution G A synonymous_variant A130A 390G>A READ-US 7 102113001 102113001 single base substitution G A synonymous_variant A545A 1635G>A RECA-EU 7 102103066 102103066 single base substitution C A upstream_gene_variant SKCA-BR 7 102100594 102100594 insertion of <=200bp - CA upstream_gene_variant SKCA-BR 7 102104108 102104108 single base substitution C T upstream_gene_variant SKCA-BR 7 102105380 102105380 single base substitution C T 5_prime_UTR_variant SKCA-BR 7 102105380 102105380 single base substitution C T upstream_gene_variant SKCA-BR 7 102105381 102105381 single base substitution C T 5_prime_UTR_variant SKCA-BR 7 102105381 102105381 single base substitution C T upstream_gene_variant SKCA-BR 7 102105935 102105948 deletion of <=200bp GCTTTTTTTTTTTT - intron_variant SKCA-BR 7 102105935 102105948 deletion of <=200bp GCTTTTTTTTTTTT - upstream_gene_variant SKCA-BR 7 102107175 102107175 insertion of <=200bp - AAGTAGCTT downstream_gene_variant SKCA-BR 7 102107175 102107175 insertion of <=200bp - AAGTAGCTT intron_variant SKCA-BR 7 102107175 102107175 insertion of <=200bp - AAGTAGCTT upstream_gene_variant SKCA-BR 7 102108098 102108098 single base substitution C T downstream_gene_variant SKCA-BR 7 102108098 102108098 single base substitution C T intron_variant SKCA-BR 7 102108098 102108098 single base substitution C T upstream_gene_variant SKCA-BR 7 102113191 102113191 single base substitution C T downstream_gene_variant SKCA-BR 7 102113191 102113191 single base substitution C T exon_variant SKCA-BR 7 102113191 102113191 single base substitution C T synonymous_variant D166D 498C>T SKCA-BR 7 102113191 102113191 single base substitution C T synonymous_variant D581D 1743C>T SKCA-BR 7 102114888 102114888 single base substitution C T downstream_gene_variant SKCA-BR 7 102115880 102115880 single base substitution C T downstream_gene_variant SKCA-BR 7 102118208 102118208 single base substitution C T downstream_gene_variant SKCM-US 7 102106288 102106288 single base substitution C T 3_prime_UTR_variant SKCM-US 7 102106288 102106288 single base substitution C T exon_variant SKCM-US 7 102106288 102106288 single base substitution C T synonymous_variant S35S 105C>T SKCM-US 7 102106288 102106288 single base substitution C T upstream_gene_variant SKCM-US 7 102106487 102106487 single base substitution C T 3_prime_UTR_variant SKCM-US 7 102106487 102106487 single base substitution C T exon_variant SKCM-US 7 102106487 102106487 single base substitution C T missense_variant P102S 304C>T SKCM-US 7 102106487 102106487 single base substitution C T upstream_gene_variant SKCM-US 7 102106642 102106642 single base substitution C T 3_prime_UTR_variant SKCM-US 7 102106642 102106642 single base substitution C T exon_variant SKCM-US 7 102106642 102106642 single base substitution C T synonymous_variant L119L 357C>T SKCM-US 7 102106642 102106642 single base substitution C T upstream_gene_variant SKCM-US 7 102107895 102107895 single base substitution C T 3_prime_UTR_variant SKCM-US 7 102107895 102107895 single base substitution C T downstream_gene_variant SKCM-US 7 102107895 102107895 single base substitution C T exon_variant SKCM-US 7 102107895 102107895 single base substitution C T missense_variant P181L 542C>T SKCM-US 7 102107895 102107895 single base substitution C T upstream_gene_variant SKCM-US 7 102108588 102108588 single base substitution C T 3_prime_UTR_variant SKCM-US 7 102108588 102108588 single base substitution C T downstream_gene_variant SKCM-US 7 102108588 102108588 single base substitution C T exon_variant SKCM-US 7 102108588 102108588 single base substitution C T missense_variant S253L 758C>T SKCM-US 7 102108588 102108588 single base substitution C T upstream_gene_variant SKCM-US 7 102108811 102108811 single base substitution G A 3_prime_UTR_variant SKCM-US 7 102108811 102108811 single base substitution G A downstream_gene_variant SKCM-US 7 102108811 102108811 single base substitution G A exon_variant SKCM-US 7 102108811 102108811 single base substitution G A synonymous_variant P302P 906G>A SKCM-US 7 102108811 102108811 single base substitution G A upstream_gene_variant SKCM-US 7 102109094 102109094 single base substitution C T downstream_gene_variant SKCM-US 7 102109094 102109094 single base substitution C T exon_variant SKCM-US 7 102109094 102109094 single base substitution C T missense_variant P338L 1013C>T SKCM-US 7 102109094 102109094 single base substitution C T upstream_gene_variant SKCM-US 7 102110281 102110281 single base substitution G A downstream_gene_variant SKCM-US 7 102110281 102110281 single base substitution G A exon_variant SKCM-US 7 102110281 102110281 single base substitution G A missense_variant G465D 1394G>A SKCM-US 7 102110281 102110281 single base substitution G A missense_variant G50D 149G>A SKCM-US 7 102112964 102112964 single base substitution G A downstream_gene_variant SKCM-US 7 102112964 102112964 single base substitution G A exon_variant SKCM-US 7 102112964 102112964 single base substitution G A missense_variant R118Q 353G>A SKCM-US 7 102112964 102112964 single base substitution G A missense_variant R533Q 1598G>A SKCM-US 7 102113410 102113410 single base substitution G A downstream_gene_variant SKCM-US 7 102113410 102113410 single base substitution G A exon_variant SKCM-US 7 102113410 102113410 single base substitution G A missense_variant V214M 640G>A SKCM-US 7 102113410 102113410 single base substitution G A missense_variant V620M 1858G>A SKCM-US 7 102114972 102114972 single base substitution T C downstream_gene_variant STAD-US 7 102106383 102106383 single base substitution G A 3_prime_UTR_variant STAD-US 7 102106383 102106383 single base substitution G A exon_variant STAD-US 7 102106383 102106383 single base substitution G A missense_variant G67D 200G>A STAD-US 7 102106383 102106383 single base substitution G A upstream_gene_variant STAD-US 7 102106487 102106487 single base substitution C T 3_prime_UTR_variant STAD-US 7 102106487 102106487 single base substitution C T exon_variant STAD-US 7 102106487 102106487 single base substitution C T missense_variant P102S 304C>T STAD-US 7 102106487 102106487 single base substitution C T upstream_gene_variant STAD-US 7 102106665 102106665 single base substitution C T 3_prime_UTR_variant STAD-US 7 102106665 102106665 single base substitution C T exon_variant STAD-US 7 102106665 102106665 single base substitution C T missense_variant A127V 380C>T STAD-US 7 102106665 102106665 single base substitution C T upstream_gene_variant STAD-US 7 102107885 102107885 single base substitution C A 3_prime_UTR_variant STAD-US 7 102107885 102107885 single base substitution C A downstream_gene_variant STAD-US 7 102107885 102107885 single base substitution C A exon_variant STAD-US 7 102107885 102107885 single base substitution C A missense_variant R178S 532C>A STAD-US 7 102107885 102107885 single base substitution C A upstream_gene_variant STAD-US 7 102108614 102108614 single base substitution G A 3_prime_UTR_variant STAD-US 7 102108614 102108614 single base substitution G A downstream_gene_variant STAD-US 7 102108614 102108614 single base substitution G A exon_variant STAD-US 7 102108614 102108614 single base substitution G A missense_variant A262T 784G>A STAD-US 7 102108614 102108614 single base substitution G A upstream_gene_variant STAD-US 7 102108751 102108751 single base substitution C T 3_prime_UTR_variant STAD-US 7 102108751 102108751 single base substitution C T downstream_gene_variant STAD-US 7 102108751 102108751 single base substitution C T exon_variant STAD-US 7 102108751 102108751 single base substitution C T synonymous_variant H282H 846C>T STAD-US 7 102108751 102108751 single base substitution C T upstream_gene_variant STAD-US 7 102109080 102109080 single base substitution C T downstream_gene_variant STAD-US 7 102109080 102109080 single base substitution C T exon_variant STAD-US 7 102109080 102109080 single base substitution C T synonymous_variant H333H 999C>T STAD-US 7 102109080 102109080 single base substitution C T upstream_gene_variant STAD-US 7 102109363 102109363 single base substitution G A downstream_gene_variant STAD-US 7 102109363 102109363 single base substitution G A exon_variant STAD-US 7 102109363 102109363 single base substitution G A missense_variant R361H 1082G>A STAD-US 7 102109363 102109363 single base substitution G A upstream_gene_variant STAD-US 7 102113048 102113048 single base substitution C T downstream_gene_variant STAD-US 7 102113048 102113048 single base substitution C T exon_variant STAD-US 7 102113048 102113048 single base substitution C T missense_variant A146V 437C>T STAD-US 7 102113048 102113048 single base substitution C T missense_variant A561V 1682C>T STAD-US 7 102113440 102113440 single base substitution A G downstream_gene_variant STAD-US 7 102113440 102113440 single base substitution A G exon_variant STAD-US 7 102113440 102113440 single base substitution A G missense_variant T224A 670A>G STAD-US 7 102113440 102113440 single base substitution A G missense_variant T630A 1888A>G STAD-US 7 102114856 102114856 single base substitution G A downstream_gene_variant THCA-SA 7 102112980 102112980 single base substitution G A downstream_gene_variant THCA-SA 7 102112980 102112980 single base substitution G A exon_variant THCA-SA 7 102112980 102112980 single base substitution G A synonymous_variant T123T 369G>A THCA-SA 7 102112980 102112980 single base substitution G A synonymous_variant T538T 1614G>A THCA-US 7 102110079 102110079 single base substitution C T downstream_gene_variant THCA-US 7 102110079 102110079 single base substitution C T exon_variant THCA-US 7 102110079 102110079 single base substitution C T synonymous_variant Y14Y 42C>T THCA-US 7 102110079 102110079 single base substitution C T synonymous_variant Y429Y 1287C>T UCEC-US 7 102106412 102106412 single base substitution G A 3_prime_UTR_variant UCEC-US 7 102106412 102106412 single base substitution G A exon_variant UCEC-US 7 102106412 102106412 single base substitution G A missense_variant A77T 229G>A UCEC-US 7 102106412 102106412 single base substitution G A upstream_gene_variant UCEC-US 7 102106430 102106430 single base substitution G A 3_prime_UTR_variant UCEC-US 7 102106430 102106430 single base substitution G A exon_variant UCEC-US 7 102106430 102106430 single base substitution G A missense_variant D83N 247G>A UCEC-US 7 102106430 102106430 single base substitution G A upstream_gene_variant UCEC-US 7 102110047 102110047 single base substitution C A downstream_gene_variant UCEC-US 7 102110047 102110047 single base substitution C A exon_variant UCEC-US 7 102110047 102110047 single base substitution C A missense_variant L419I 1255C>A UCEC-US 7 102110047 102110047 single base substitution C A missense_variant L4I 10C>A UCEC-US 7 102110226 102110226 single base substitution C T downstream_gene_variant UCEC-US 7 102110226 102110226 single base substitution C T exon_variant UCEC-US 7 102110226 102110226 single base substitution C T missense_variant R32C 94C>T UCEC-US 7 102110226 102110226 single base substitution C T missense_variant R447C 1339C>T UCEC-US 7 102110284 102110286 deletion of <=200bp GCT - downstream_gene_variant UCEC-US 7 102110284 102110286 deletion of <=200bp GCT - exon_variant UCEC-US 7 102110284 102110286 deletion of <=200bp GCT - inframe_deletion GC466G UCEC-US 7 102110284 102110286 deletion of <=200bp GCT - inframe_deletion GC51G UCEC-US 7 102114127 102114127 single base substitution G A downstream_gene_variant

Mutation - COSMIC Sample Name Mutation ID Mutation CDS Mutation AA Mutation Description Mutation Genome Position Mutation Strand TCGA-AC-A23H-01 COSM3831480 c.752C>T p.S251F Substitution - Missense 7:102468135-102468135 + TCGA-D9-A1JW-06 COSM3631437 c.304C>T p.P102S Substitution - Missense 7:102466040-102466040 + TCGA-C5-A3HE-01 COSM4827814 c.918G>C p.E306D Substitution - Missense 7:102468376-102468376 + 2521262 COSM5891978 c.1538C>T p.S513F Substitution - Missense 7:102472457-102472457 + AML21 COSM166654 c.408C>A p.N136K Substitution - Missense 7:102466246-102466246 + LUAD-S00488 COSM395359 c.501G>A p.A167A Substitution - coding silent 7:102467407-102467407 + C80 COSM4619868 c.908C>G p.A303G Substitution - Missense 7:102468366-102468366 + PD11389a COSM5767403 c.1622T>A p.V541E Substitution - Missense 7:102472541-102472541 + ML_41_T_01 COSM5033854 c.1743C>T p.D581D Substitution - coding silent 7:102472744-102472744 + TCGA-CG-5721-01 COSM3876740 c.1888A>G p.T630A Substitution - Missense 7:102472993-102472993 + T2940 COSM4699353 c.1396G>A p.G466S Substitution - Missense 7:102469836-102469836 + 587284 COSM1214041 c.1354G>A p.A452T Substitution - Missense 7:102469794-102469794 + T2269 COSM3083473 c.1247G>A p.R416Q Substitution - Missense 7:102469592-102469592 + TCGA-EE-A29V-06 COSM3631438 c.357C>T p.L119L Substitution - coding silent 7:102466195-102466195 + TCGA-HU-A4GT-01 COSM3876732 c.200G>A p.G67D Substitution - Missense 7:102465936-102465936 + ESCC-184T COSM3941923 c.589G>A p.E197K Substitution - Missense 7:102467734-102467734 + PTC-28C COSM452074 c.1614G>A p.T538T Substitution - coding silent 7:102472533-102472533 + TCGA-BQ-5890-01 COSM3995217 c.1251C>A p.I417I Substitution - coding silent 7:102469596-102469596 + 148632 COSM1644755 c.1352T>C p.V451A Substitution - Missense 7:102469792-102469792 + 227_T COSM3949666 c.793G>A p.D265N Substitution - Missense 7:102468176-102468176 + LUAD-S01306 COSM392406 c.193_194insGTC p.N65>SH Complex - insertion inframe 7:102465929-102465930 + TCGA-EE-A2GU-06 COSM3631439 c.758C>T p.S253L Substitution - Missense 7:102468141-102468141 + TCGA-DA-A3F8-06 COSM3631443 c.1598G>A p.R533Q Substitution - Missense 7:102472517-102472517 + AD87 COSM5966945 c.679-2A>G p.? Unknown 7:102468060-102468060 + T3090 COSM4699351 c.1044C>T p.T348T Substitution - coding silent 7:102468878-102468878 + T368 COSM4699352 c.1093C>T p.L365L Substitution - coding silent 7:102468927-102468927 + TCGA-BR-8487-01 COSM3876734 c.532C>A p.R178S Substitution - Missense 7:102467438-102467438 + 61 COSM5738075 c.1582C>T p.Q528* Substitution - Nonsense 7:102472501-102472501 + TCGA-EE-A29M-06 COSM3631444 c.1858G>A p.V620M Substitution - Missense 7:102472963-102472963 + HCC074T COSM5810220 c.556G>T p.E186* Substitution - Nonsense 7:102467462-102467462 + GC1_T COSM150362 c.1474G>T p.G492C Substitution - Missense 7:102472249-102472249 + SW48 COSM4656434 c.730C>T p.P244S Substitution - Missense 7:102468113-102468113 + SC_9104 COSM5562491 c.1365G>A p.P455P Substitution - coding silent 7:102469805-102469805 + TCGA-Q1-A6DW-01 COSM4856026 c.700C>T p.R234W Substitution - Missense 7:102468083-102468083 + sysucc-1339T COSM1178977 c.604G>A p.A202T Substitution - Missense 7:102467749-102467749 + TCGA-AA-3712-01 COSM1446885 c.603C>T p.A201A Substitution - coding silent 7:102467748-102467748 + TCGA-AM-5820-01 COSM452074 c.1614G>A p.T538T Substitution - coding silent 7:102472533-102472533 + sysucc-1317T COSM5450315 c.272C>T p.P91L Substitution - Missense 7:102466008-102466008 + MBRep_T27 COSM307046 c.114G>T p.L38L Substitution - coding silent 7:102465850-102465850 + 61 COSM5738074 c.574-1G>T p.? Unknown 7:102467718-102467718 + TCGA-CM-4746-01 COSM1446889 c.1548C>A p.S516R Substitution - Missense 7:102472467-102472467 + CR007 COSM4994607 c.1803+5T>C p.? Unknown 7:102472809-102472809 + SH-0622 COSM5017334 c.1452_1453insT p.V485fs*7 Insertion - Frameshift 7:102472227-102472228 + TCGA-A6-6141-01 COSM1446888 c.1461C>T p.F487F Substitution - coding silent 7:102472236-102472236 + HCC115 COSM1622141 c.1729G>C p.V577L Substitution - Missense 7:102472730-102472730 + TCGA-06-0210 COSM2150710 c.573+2_573+4delTAT p.? Unknown 7:102467481-102467483 + BD165T COSM1083504 c.1339C>T p.R447C Substitution - Missense 7:102469779-102469779 + TCGA-D9-A6EC-06 COSM4404367 c.542C>T p.P181L Substitution - Missense 7:102467448-102467448 + TCGA-06-0210-02 COSM3411417 c.409C>T p.L137L Substitution - coding silent 7:102466247-102466247 + TCGA-CD-A4MG-01 COSM3876735 c.784G>A p.A262T Substitution - Missense 7:102468167-102468167 + TCGA-ET-A39M-01 COSM3374438 c.1287C>T p.Y429Y Substitution - coding silent 7:102469632-102469632 + TCGA-E9-A1NI-01 COSM5835302 c.861delC p.Q289fs*35 Deletion - Frameshift 7:102468319-102468319 + TCGA-AB-2988-03 COSM166654 c.408C>A p.N136K Substitution - Missense 7:102466246-102466246 + TCGA-EE-A181-06 COSM3631436 c.105C>T p.S35S Substitution - coding silent 7:102465841-102465841 + S02354 COSM5695655 c.1114G>A p.G372S Substitution - Missense 7:102468948-102468948 + TCGA-CZ-5984-01 COSM484546 c.280G>T p.E94* Substitution - Nonsense 7:102466016-102466016 + TCGA-AP-A051-01 COSM1083501 c.229G>A p.A77T Substitution - Missense 7:102465965-102465965 + TCGA-BR-6452-01 COSM3876736 c.846C>T p.H282H Substitution - coding silent 7:102468304-102468304 + J46_T COSM3949665 c.720C>A p.L240L Substitution - coding silent 7:102468103-102468103 + TCGA-18-3409-01 COSM744377 c.164C>T p.S55F Substitution - Missense 7:102465900-102465900 + TCGA-24-2261-01 COSM111742 c.314_315+12delCGGTAAGTGGGAGC p.? Unknown 7:102466050-102466063 + TCGA-A6-6650-01 COSM3631436 c.105C>T p.S35S Substitution - coding silent 7:102465841-102465841 + KPOPBR-03-T COSM5965770 c.475G>A p.E159K Substitution - Missense 7:102467381-102467381 + 6115247 COSM5554159 c.1029T>C p.F343F Substitution - coding silent 7:102468863-102468863 + LIM1215 COSM4338391 c.1588_1589insG p.R533fs*32 Insertion - Frameshift 7:102472507-102472508 + 587224 COSM1214039 c.1531G>A p.V511M Substitution - Missense 7:102472306-102472306 + TCGA-BR-8589-01 COSM3876737 c.999C>T p.H333H Substitution - coding silent 7:102468633-102468633 + TCGA-BR-6452-01 COSM3631437 c.304C>T p.P102S Substitution - Missense 7:102466040-102466040 + TCGA-GN-A265-06 COSM3631441 c.1013C>T p.P338L Substitution - Missense 7:102468647-102468647 + TCGA-66-2800-01 COSM744376 c.905C>T p.P302L Substitution - Missense 7:102468363-102468363 + 12T COSM108460 c.300C>T p.G100G Substitution - coding silent 7:102466036-102466036 + TCGA-AA-3713-01 COSM452074 c.1614G>A p.T538T Substitution - coding silent 7:102472533-102472533 + SC_9031 COSM5569906 c.1191C>T p.T397T Substitution - coding silent 7:102469025-102469025 + TCGA-BS-A0UF-01 COSM1083504 c.1339C>T p.R447C Substitution - Missense 7:102469779-102469779 + RK119_C01 COSM3745437 c.215G>A p.R72H Substitution - Missense 7:102465951-102465951 + HDC54 COSM4636498 c.1215G>C p.E405D Substitution - Missense 7:102469049-102469049 + ZZUFHECRKL-G056T COSM5438205 c.854A>T p.N285I Substitution - Missense 7:102468312-102468312 + TCGA-AD-6895-01 COSM3698013 c.1229C>T p.T410M Substitution - Missense 7:102469574-102469574 + C135 COSM4611202 c.1589delG p.G532fs*55 Deletion - Frameshift 7:102472508-102472508 + Pat_24_A COSM5871421 c.500C>T p.A167V Substitution - Missense 7:102467406-102467406 + CSCC-16-T COSM4493473 c.415C>T p.R139W Substitution - Missense 7:102466253-102466253 + TCGA-HP-A5N0-01 COSM4942297 c.719T>G p.L240R Substitution - Missense 7:102468102-102468102 + PET020T COSM5825603 c.86C>A p.S29* Substitution - Nonsense 7:102465822-102465822 + Pat_02_B COSM5871422 c.1649C>T p.S550L Substitution - Missense 7:102472568-102472568 + CSCC-10-T COSM4446490 c.81-3C>T p.? Unknown 7:102465814-102465814 + ASHPC_0003_Pa_P_2 COSM3781234 c.1690G>A p.D564N Substitution - Missense 7:102472609-102472609 + TCGA-AA-3662-01 COSM452074 c.1614G>A p.T538T Substitution - coding silent 7:102472533-102472533 + TCGA-D1-A103-01 COSM1083503 c.1255C>A p.L419I Substitution - Missense 7:102469600-102469600 + TCGA-DC-6154-01 COSM3431010 c.1395C>T p.G465G Substitution - coding silent 7:102469835-102469835 + TCGA-AG-A020-01 COSM290324 c.188C>T p.P63L Substitution - Missense 7:102465924-102465924 + 587222 COSM1214040 c.1246C>T p.R416W Substitution - Missense 7:102469591-102469591 + TCGA-EI-6882-01 COSM5079102 c.80+1_80+2insT p.? Unknown 7:102465161-102465162 + TCGA-36-2540-01 COSM1330210 c.1744G>A p.V582I Substitution - Missense 7:102472745-102472745 + TCGA-CM-6162-01 COSM1330210 c.1744G>A p.V582I Substitution - Missense 7:102472745-102472745 + 587238 COSM1214038 c.937G>A p.V313M Substitution - Missense 7:102468571-102468571 + CSCC-31-T COSM4527038 c.1437G>A p.K479K Substitution - coding silent 7:102469877-102469877 + 386 COSM4427198 c.1610C>T p.S537F Substitution - Missense 7:102472529-102472529 + sysucc-1370T COSM5472321 c.944C>T p.T315M Substitution - Missense 7:102468578-102468578 + TCGA-CC-A3M9-01 COSM4928550 c.1799C>T p.T600I Substitution - Missense 7:102472800-102472800 + TCGA-AH-6897-01 COSM3431011 c.1635G>A p.A545A Substitution - coding silent 7:102472554-102472554 + TCGA-CD-A4MG-01 COSM3876739 c.1682C>T p.A561V Substitution - Missense 7:102472601-102472601 + I2L-P16-Tumor-Biopsy COSM5358033 c.223C>T p.R75C Substitution - Missense 7:102465959-102465959 + T3149 COSM4699354 c.1417C>T p.R473W Substitution - Missense 7:102469857-102469857 + STC291 COSM4699354 c.1417C>T p.R473W Substitution - Missense 7:102469857-102469857 + GC1_T COSM150361 c.1473G>C p.E491D Substitution - Missense 7:102472248-102472248 + TCGA-BQ-5890-01 COSM3995216 c.1250T>G p.I417S Substitution - Missense 7:102469595-102469595 + TCGA-BR-4184-01 COSM3876733 c.380C>T p.A127V Substitution - Missense 7:102466218-102466218 + TCGA-AD-5900-01 COSM1446884 c.517G>A p.A173T Substitution - Missense 7:102467423-102467423 + TCGA-FD-A3SS-01 COSM3777965 c.157G>A p.D53N Substitution - Missense 7:102465893-102465893 + Pat_41_B COSM5871420 c.322G>A p.D108N Substitution - Missense 7:102466160-102466160 + TCGA-AM-5821-01 COSM3762291 c.1778C>T p.P593L Substitution - Missense 7:102472779-102472779 + TCGA-02-2485-01 COSM290324 c.188C>T p.P63L Substitution - Missense 7:102465924-102465924 + 8030353 COSM3394431 c.499G>A p.A167T Substitution - Missense 7:102467405-102467405 + TCGA-EE-A2MI-06 COSM3631442 c.1394G>A p.G465D Substitution - Missense 7:102469834-102469834 + TCGA-AD-6895-01 COSM1446887 c.1383C>T p.A461A Substitution - coding silent 7:102469823-102469823 + I2L-P7-Tumor-Organoid COSM5358443 c.191A>G p.D64G Substitution - Missense 7:102465927-102465927 + TCGA-G4-6321-01 COSM452074 c.1614G>A p.T538T Substitution - coding silent 7:102472533-102472533 + TCGA-BS-A0TA-01 COSM1083500 c.141G>A p.T47T Substitution - coding silent 7:102465877-102465877 + TCGA-GN-A26A-06 COSM3631440 c.906G>A p.P302P Substitution - coding silent 7:102468364-102468364 + HCC115T COSM1622141 c.1729G>C p.V577L Substitution - Missense 7:102472730-102472730 + TCGA-AN-A046-01 COSM3831479 c.602C>T p.A201V Substitution - Missense 7:102467747-102467747 + TCGA-B2-5633-01 COSM484547 c.898T>A p.F300I Substitution - Missense 7:102468356-102468356 + TCGA-FP-A4BF-01 COSM3876738 c.1082G>A p.R361H Substitution - Missense 7:102468916-102468916 + 2250172 COSM5030161 c.1143C>T p.A381A Substitution - coding silent 7:102468977-102468977 + T3262 COSM3083470 c.1212C>T p.H404H Substitution - coding silent 7:102469046-102469046 + TCGA-D1-A17A-01 COSM1083502 c.247G>A p.D83N Substitution - Missense 7:102465983-102465983 + TCGA-EO-A1Y8-01 COSM1083505 c.1397_1399delGCT p.C469delC Deletion - In frame 7:102469837-102469839 + SWE-17 COSM1178977 c.604G>A p.A202T Substitution - Missense 7:102467749-102467749 + TCGA-AA-A010-01 COSM282576 c.366C>A p.V122V Substitution - coding silent 7:102466204-102466204 + TCGA-G4-6298-01 COSM452074 c.1614G>A p.T538T Substitution - coding silent 7:102472533-102472533 + CSB22 COSM3698013 c.1229C>T p.T410M Substitution - Missense 7:102469574-102469574 +

Mutation - CGAP UNIGENE CYTOBAND OMIM SNP Hs.274135 7q22.1

Mutation - IntOGen Mutated from(ref) Mutated to(alt) Consequence Type AA Mutation CDS Mutation Chr Pos Cancer C A Missense p.N136K c.408C>A 7 102106693 AML CGGTAAGTGGGAGC - SpliceDonorDeletion . c.315_315+13delGGTAAGTGGGAGCC 7 102106497 OV C T IntronicSNV . c.1691-15C>T 7 102113124 CM C T Missense p.P102S c.304C>T 7 102106487 CM C T Missense p.P302L c.905C>T 7 102108810 LUSC C T Missense p.P338L c.1013C>T 7 102109094 CM C T Missense p.P63L c.188C>T 7 102106371 COREAD C T Missense p.P63L c.188C>T 7 102106371 GBM C T Missense p.S253L c.758C>T 7 102108588 CM C T Missense p.T410M c.1229C>T 7 102110021 BRCA C T Synonymous p.L119L c.357C>T 7 102106642 CM C T Synonymous p.L137L c.409C>T 7 102106694 GBM C T Synonymous p.S35S c.105C>T 7 102106288 CM G A IntronicSNV . c.804+27G>A 7 102108661 CM G A Missense p.D83N c.247G>A 7 102106430 UCEC G A Missense p.E140K c.418G>A 7 102106703 LUAD G A Missense p.G465D c.1394G>A 7 102110281 CM G A Missense p.R533Q c.1598G>A 7 102112964 CM G A Missense p.V620M c.1858G>A 7 102113410 CM G A Synonymous p.P302P c.906G>A 7 102108811 CM G A Synonymous p.T410T c.1230G>A 7 102110022 LUAD G C SpliceDonorSNV . c.804+1G>C 7 102108635 LUAD GCT - InFrameDeletion p.C469delC c.1407_1409delCTG 7 102110284 UCEC G - Frameshift p.G532Afs*55 c.1595delG 7 102112955 STAD G T Nonsense p.E94* c.280G>T 7 102106463 RCCC T A Missense p.F300I c.898T>A 7 102108803 RCCC