Mutation - TCGA Type Chromosome Start Position End Position Strand Variant Classification Variant Type Reference Allele Tumor_seq Allele 1 Tumor_seq Allele 2 Tumor Sample Barcode Matched Norm Sample Barcode Genome Change cDNA Change Codon Change Protein Change ACC 6 158349722 158349722 + Missense_Mutation SNP C C T TCGA-OR-A5LJ-01A-11D-A29I-10 TCGA-OR-A5LJ-10A-01D-A29L-10 g.chr6:158349722C>T c.1276C>T c.(1276-1278)Cgc>Tgc p.R426C BLCA 6 158296183 158296183 + Missense_Mutation SNP C C T TCGA-FD-A3B3-01A-12D-A202-08 TCGA-FD-A3B3-10A-01D-A202-08 g.chr6:158296183C>T c.275C>T c.(274-276)tCg>tTg p.S92L BLCA 6 158327215 158327215 + Missense_Mutation SNP G G C TCGA-E7-A7XN-01A-11D-A34U-08 TCGA-E7-A7XN-10A-01D-A34X-08 g.chr6:158327215G>C c.676G>C c.(676-678)Gca>Cca p.A226P BLCA 6 158330750 158330750 + Silent SNP G G C TCGA-E7-A3X6-01A-12D-A22Z-08 TCGA-E7-A3X6-10A-01D-A22Z-08 g.chr6:158330750G>C c.759G>C c.(757-759)gtG>gtC p.V253V BRCA 6 158288594 158288594 + Missense_Mutation SNP G G A TCGA-AN-A046-01A-21W-A050-09 TCGA-AN-A046-10A-01W-A055-09 g.chr6:158288594G>A c.28G>A c.(28-30)Gat>Aat p.D10N BRCA 6 158349702 158349702 + Missense_Mutation SNP T T G TCGA-A2-A0T5-01A-21D-A099-09 TCGA-A2-A0T5-10A-01D-A099-09 g.chr6:158349702T>G c.1256T>G c.(1255-1257)gTg>gGg p.V419G BRCA 6 158359728 158359728 + Missense_Mutation SNP G G C TCGA-AC-A23H-01A-11D-A159-09 TCGA-AC-A23H-11A-12D-A17G-09 g.chr6:158359728G>C c.1597G>C c.(1597-1599)Gac>Cac p.D533H CESC 6 158288594 158288594 + Missense_Mutation SNP G G C TCGA-EK-A2RC-01A-11D-A18J-09 TCGA-EK-A2RC-10A-01D-A18J-09 g.chr6:158288594G>C c.28G>C c.(28-30)Gat>Cat p.D10H CHOL 6 158288657 158288716 + Splice_Site DEL ACAAATCCGGTAAGAGAACTGTACATTCGAGTCTGATTGTCCCATGTGGACTTATTTTTA ACAAATCCGGTAAGAGAACTGTACATTCGAGTCTGATTGTCCCATGTGGACTTATTTTTA - TCGA-3X-AAVE-01A-11D-A417-09 TCGA-3X-AAVE-10A-01D-A41A-09 g.chr6:158288657_158288716delACAAATCCGGTAAGAGAACTGTACATTCGAGTCTGATTGTCCCATGTGGACTTATTTTTA c.91_99delACAAATCCGGTAAGAGAACTGTACATTCGAGTCTGATTGTCCCATGTGGACTTATTTTTA c.(91-99)acaaatccgdel p.TNP31del COAD 6 158323000 158323001 + Frame_Shift_Del DEL AG AG - TCGA-AA-3663-01A-01D-1719-10 TCGA-AA-3663-11A-01D-1719-10 g.chr6:158323000_158323001delAG c.543_544delAG c.(541-546)tcagagfs p.E182fs COAD 6 158327172 158327172 + Silent SNP T T C TCGA-AA-3984-01A-02W-0995-10 TCGA-AA-3984-10A-01W-0999-10 g.chr6:158327172T>C c.633T>C c.(631-633)ttT>ttC p.F211F COAD 6 158363839 158363839 + Missense_Mutation SNP G G T TCGA-AA-3864-01A-01W-0995-10 TCGA-AA-3864-10A-01W-0995-10 g.chr6:158363839G>T c.1757G>T c.(1756-1758)aGg>aTg p.R586M COADREAD 6 158317968 158317968 + Missense_Mutation SNP A A C TCGA-AG-A002-01A-01W-A00K-09 TCGA-AG-A002-10A-01W-A00K-09 g.chr6:158317968A>C c.410A>C c.(409-411)aAc>aCc p.N137T COADREAD 6 158323000 158323001 + Frame_Shift_Del DEL AG AG - TCGA-AA-3663-01A-01D-1719-10 TCGA-AA-3663-11A-01D-1719-10 g.chr6:158323000_158323001delAG c.543_544delAG c.(541-546)tcagagfs p.E182fs COADREAD 6 158327172 158327172 + Silent SNP T T C TCGA-AA-3984-01A-02W-0995-10 TCGA-AA-3984-10A-01W-0999-10 g.chr6:158327172T>C c.633T>C c.(631-633)ttT>ttC p.F211F COADREAD 6 158363839 158363839 + Missense_Mutation SNP G G T TCGA-AA-3864-01A-01W-0995-10 TCGA-AA-3864-10A-01W-0995-10 g.chr6:158363839G>T c.1757G>T c.(1756-1758)aGg>aTg p.R586M ESCA 6 158348167 158348167 + Missense_Mutation SNP G G T TCGA-2H-A9GK-01A-11D-A37C-09 TCGA-2H-A9GK-11A-11D-A37F-09 g.chr6:158348167G>T c.1105G>T c.(1105-1107)Gcc>Tcc p.A369S ESCA 6 158363834 158363834 + Missense_Mutation SNP G G T TCGA-L5-A8NT-01A-11D-A37C-09 TCGA-L5-A8NT-11A-11D-A37F-09 g.chr6:158363834G>T c.1752G>T c.(1750-1752)aaG>aaT p.K584N GBM 6 158331016 158331016 + Missense_Mutation SNP C C T TCGA-06-0192-01B-01W-0348-08 TCGA-06-0192-10A-01W-0348-08 g.chr6:158331016C>T c.908C>T c.(907-909)tCa>tTa p.S303L GBM 6 158342573 158342573 + Missense_Mutation SNP A A T TCGA-06-0745-01A-01W-0348-08 TCGA-06-0745-10A-01W-0348-08 g.chr6:158342573A>T c.960A>T c.(958-960)gaA>gaT p.E320D GBM 6 158357061 158357061 + Missense_Mutation SNP G G T TCGA-06-0939-01A-01D-1353-08 TCGA-06-0939-10A-01D-1353-08 g.chr6:158357061G>T c.1432G>T c.(1432-1434)Gtg>Ttg p.V478L GBMLGG 6 158323018 158323018 + Silent SNP C C T TCGA-DU-6392-01A-11D-1705-08 TCGA-DU-6392-10A-01D-1705-08 g.chr6:158323018C>T c.561C>T c.(559-561)ggC>ggT p.G187G GBMLGG 6 158330965 158330965 + Missense_Mutation SNP G G T TCGA-DU-6392-01A-11D-1705-08 TCGA-DU-6392-10A-01D-1705-08 g.chr6:158330965G>T c.857G>T c.(856-858)aGg>aTg p.R286M GBMLGG 6 158331016 158331016 + Missense_Mutation SNP C C T TCGA-06-0192-01B-01W-0348-08 TCGA-06-0192-10A-01W-0348-08 g.chr6:158331016C>T c.908C>T c.(907-909)tCa>tTa p.S303L GBMLGG 6 158342573 158342573 + Missense_Mutation SNP A A T TCGA-06-0745-01A-01W-0348-08 TCGA-06-0745-10A-01W-0348-08 g.chr6:158342573A>T c.960A>T c.(958-960)gaA>gaT p.E320D GBMLGG 6 158349675 158349675 + Missense_Mutation SNP A A G TCGA-DU-6392-01A-11D-1705-08 TCGA-DU-6392-10A-01D-1705-08 g.chr6:158349675A>G c.1229A>G c.(1228-1230)gAt>gGt p.D410G GBMLGG 6 158357011 158357011 + Missense_Mutation SNP A A G TCGA-S9-A6U9-01A-11D-A32B-08 TCGA-S9-A6U9-10A-01D-A329-08 g.chr6:158357011A>G c.1382A>G c.(1381-1383)aAt>aGt p.N461S GBMLGG 6 158357061 158357061 + Missense_Mutation SNP G G T TCGA-06-0939-01A-01D-1353-08 TCGA-06-0939-10A-01D-1353-08 g.chr6:158357061G>T c.1432G>T c.(1432-1434)Gtg>Ttg p.V478L HNSC 6 158330947 158330947 + Missense_Mutation SNP A A G TCGA-CQ-6221-01A-11D-2078-08 TCGA-CQ-6221-10A-01D-2078-08 g.chr6:158330947A>G c.839A>G c.(838-840)aAt>aGt p.N280S KIPAN 6 158288583 158288583 + Missense_Mutation SNP G G A TCGA-A4-7997-01A-11D-2201-08 TCGA-A4-7997-10A-01D-2201-08 g.chr6:158288583G>A c.17G>A c.(16-18)cGg>cAg p.R6Q KIPAN 6 158330822 158330822 + Splice_Site SNP T T G TCGA-A4-A48D-01A-11D-A25F-10 TCGA-A4-A48D-10A-01D-A25F-10 g.chr6:158330822T>G c.831T>G c.(829-831)acT>acG p.T277T KIPAN 6 158330994 158330994 + Missense_Mutation SNP C C T TCGA-BP-4176-01A-02D-1366-10 TCGA-BP-4176-11A-01D-1366-10 g.chr6:158330994C>T c.886C>T c.(886-888)Cgt>Tgt p.R296C KIPAN 6 158358486 158358486 + Missense_Mutation SNP C C A TCGA-B1-A655-01A-11D-A31Z-10 TCGA-B1-A655-10A-01D-A31X-10 g.chr6:158358486C>A c.1464C>A c.(1462-1464)ttC>ttA p.F488L KIRC 6 158330994 158330994 + Missense_Mutation SNP C C T TCGA-BP-4176-01A-02D-1366-10 TCGA-BP-4176-11A-01D-1366-10 g.chr6:158330994C>T c.886C>T c.(886-888)Cgt>Tgt p.R296C KIRP 6 158288583 158288583 + Missense_Mutation SNP G G A TCGA-A4-7997-01A-11D-2201-08 TCGA-A4-7997-10A-01D-2201-08 g.chr6:158288583G>A c.17G>A c.(16-18)cGg>cAg p.R6Q KIRP 6 158330822 158330822 + Splice_Site SNP T T G TCGA-A4-A48D-01A-11D-A25F-10 TCGA-A4-A48D-10A-01D-A25F-10 g.chr6:158330822T>G c.831T>G c.(829-831)acT>acG p.T277T KIRP 6 158358486 158358486 + Missense_Mutation SNP C C A TCGA-B1-A655-01A-11D-A31Z-10 TCGA-B1-A655-10A-01D-A31X-10 g.chr6:158358486C>A c.1464C>A c.(1462-1464)ttC>ttA p.F488L LGG 6 158323018 158323018 + Silent SNP C C T TCGA-DU-6392-01A-11D-1705-08 TCGA-DU-6392-10A-01D-1705-08 g.chr6:158323018C>T c.561C>T c.(559-561)ggC>ggT p.G187G LGG 6 158330965 158330965 + Missense_Mutation SNP G G T TCGA-DU-6392-01A-11D-1705-08 TCGA-DU-6392-10A-01D-1705-08 g.chr6:158330965G>T c.857G>T c.(856-858)aGg>aTg p.R286M LGG 6 158349675 158349675 + Missense_Mutation SNP A A G TCGA-DU-6392-01A-11D-1705-08 TCGA-DU-6392-10A-01D-1705-08 g.chr6:158349675A>G c.1229A>G c.(1228-1230)gAt>gGt p.D410G LGG 6 158357011 158357011 + Missense_Mutation SNP A A G TCGA-S9-A6U9-01A-11D-A32B-08 TCGA-S9-A6U9-10A-01D-A329-08 g.chr6:158357011A>G c.1382A>G c.(1381-1383)aAt>aGt p.N461S LUAD 6 158288666 158288666 + Splice_Site SNP G G T TCGA-44-7667-01A-31D-2063-08 TCGA-44-7667-10A-01D-2063-08 g.chr6:158288666G>T c.e2+1 LUAD 6 158317931 158317932 + Frame_Shift_Ins INS - - G TCGA-17-Z053-01A-01W-0747-08 TCGA-17-Z053-11A-01W-0747-08 g.chr6:158317931_158317932insG c.373_374insG c.(373-375)tggfs p.W125fs LUAD 6 158330983 158330983 + Nonsense_Mutation SNP G G A TCGA-80-5607-01A-31D-1945-08 TCGA-80-5607-10A-01D-1946-08 g.chr6:158330983G>A c.875G>A c.(874-876)tGg>tAg p.W292* LUAD 6 158330991 158330991 + Missense_Mutation SNP G G A TCGA-86-8672-01A-21D-2393-08 TCGA-86-8672-10A-01D-2393-08 g.chr6:158330991G>A c.883G>A c.(883-885)Gag>Aag p.E295K LUAD 6 158349650 158349650 + Missense_Mutation SNP G G T TCGA-95-7043-01A-11D-1945-08 TCGA-95-7043-10A-01D-1946-08 g.chr6:158349650G>T c.1204G>T c.(1204-1206)Gtg>Ttg p.V402L LUAD 6 158353251 158353251 + Missense_Mutation SNP T T C TCGA-69-8253-01A-11D-2284-08 TCGA-69-8253-10A-01D-2284-08 g.chr6:158353251T>C c.1313T>C c.(1312-1314)aTa>aCa p.I438T LUAD 6 158358492 158358492 + Missense_Mutation SNP G G A TCGA-55-7727-01A-11D-2167-08 TCGA-55-7727-10A-01D-2167-08 g.chr6:158358492G>A c.1470G>A c.(1468-1470)atG>atA p.M490I LUAD 6 158363843 158363843 + Missense_Mutation SNP G G T TCGA-73-4677-01A-01D-1265-08 TCGA-73-4677-11A-01D-1265-08 g.chr6:158363843G>T c.1761G>T c.(1759-1761)caG>caT p.Q587H LUSC 6 158318005 158318005 + Silent SNP C C A TCGA-70-6722-01A-11D-1817-08 TCGA-70-6722-10A-01D-1817-08 g.chr6:158318005C>A c.447C>A c.(445-447)ggC>ggA p.G149G LUSC 6 158327175 158327175 + Silent SNP G G A TCGA-18-3416-01A-01D-0983-08 TCGA-18-3416-11A-01D-0983-08 g.chr6:158327175G>A c.636G>A c.(634-636)gcG>gcA p.A212A LUSC 6 158349731 158349731 + Missense_Mutation SNP G G T TCGA-37-4141-01A-02D-1352-08 TCGA-37-4141-10A-01D-1352-08 g.chr6:158349731G>T c.1285G>T c.(1285-1287)Ggc>Tgc p.G429C LUSC 6 158357063 158357063 + Silent SNP G G T TCGA-66-2754-01A-01D-0983-08 TCGA-66-2754-11A-01D-0983-08 g.chr6:158357063G>T c.1434G>T c.(1432-1434)gtG>gtT p.V478V LUSC 6 158358489 158358489 + Silent SNP G G C TCGA-66-2771-01A-01D-0983-08 TCGA-66-2771-11A-01D-0983-08 g.chr6:158358489G>C c.1467G>C c.(1465-1467)ctG>ctC p.L489L PAAD 6 158349734 158349734 + Splice_Site SNP C C T TCGA-IB-7651-01A-11D-2154-08 TCGA-IB-7651-10A-01D-2154-08 g.chr6:158349734C>T c.1288C>T c.(1288-1290)Cca>Tca p.P430S READ 6 158317968 158317968 + Missense_Mutation SNP A A C TCGA-AG-A002-01A-01W-A00K-09 TCGA-AG-A002-10A-01W-A00K-09 g.chr6:158317968A>C c.410A>C c.(409-411)aAc>aCc p.N137T SKCM 6 158288663 158288663 + Missense_Mutation SNP C C T TCGA-EE-A29E-06A-11D-A197-08 TCGA-EE-A29E-10A-01D-A199-08 g.chr6:158288663C>T c.97C>T c.(97-99)Ccg>Tcg p.P33S SKCM 6 158294154 158294154 + Silent SNP G G A TCGA-D3-A5GS-06A-11D-A27K-08 TCGA-D3-A5GS-10A-01D-A27N-08 g.chr6:158294154G>A c.120G>A c.(118-120)ctG>ctA p.L40L SKCM 6 158296089 158296089 + Missense_Mutation SNP C C T TCGA-GN-A266-06A-11D-A197-08 TCGA-GN-A266-10A-01D-A199-08 g.chr6:158296089C>T c.181C>T c.(181-183)Ccc>Tcc p.P61S SKCM 6 158317991 158317991 + Missense_Mutation SNP G G A TCGA-D9-A6EC-06A-11D-A30X-08 TCGA-D9-A6EC-10A-01D-A30X-08 g.chr6:158317991G>A c.433G>A c.(433-435)Gac>Aac p.D145N SKCM 6 158318009 158318009 + Missense_Mutation SNP C C T TCGA-DA-A1HV-06A-21D-A196-08 TCGA-DA-A1HV-10A-01D-A198-08 g.chr6:158318009C>T c.451C>T c.(451-453)Ccc>Tcc p.P151S SKCM 6 158342637 158342637 + Missense_Mutation SNP C C T TCGA-FS-A1ZK-06A-11D-A197-08 TCGA-FS-A1ZK-10A-01D-A199-08 g.chr6:158342637C>T c.1024C>T c.(1024-1026)Cca>Tca p.P342S SKCM 6 158349733 158349733 + Splice_Site SNP C C T TCGA-EE-A2GL-06A-11D-A196-08 TCGA-EE-A2GL-10A-01D-A198-08 g.chr6:158349733C>T c.1287C>T c.(1285-1287)ggC>ggT p.G429G SKCM 6 158353276 158353276 + Silent SNP C C T TCGA-D3-A3C1-06A-12D-A196-08 TCGA-D3-A3C1-10A-01D-A198-08 g.chr6:158353276C>T c.1338C>T c.(1336-1338)gcC>gcT p.A446A

Mutation - ICGC Project Code Chromosome Chromosome Start Chromosome End Mutation Type Mutated from Allele Mutated to Allele Consequence Type AA Mutation CDS Mutation BLCA-CN 6 158330742 158330742 single base substitution G C missense_variant D251H 751G>C BLCA-US 6 158296183 158296183 single base substitution C T missense_variant S92L 275C>T BLCA-US 6 158330750 158330750 single base substitution G C synonymous_variant V253V 759G>C BOCA-FR 6 158276001 158276001 single base substitution A C intron_variant BOCA-FR 6 158350349 158350349 single base substitution A C intron_variant BRCA-EU 6 158240390 158240390 single base substitution C T upstream_gene_variant BRCA-EU 6 158240741 158240741 single base substitution C G upstream_gene_variant BRCA-EU 6 158241334 158241334 deletion of <=200bp A - upstream_gene_variant BRCA-EU 6 158242064 158242064 single base substitution A T upstream_gene_variant BRCA-EU 6 158243000 158243000 single base substitution C G upstream_gene_variant BRCA-EU 6 158244001 158244001 single base substitution C G upstream_gene_variant BRCA-EU 6 158244969 158244969 single base substitution C G intron_variant BRCA-EU 6 158246194 158246194 single base substitution C T intron_variant BRCA-EU 6 158247326 158247326 single base substitution C G intron_variant BRCA-EU 6 158249624 158249624 single base substitution C T intron_variant BRCA-EU 6 158251273 158251273 single base substitution G C intron_variant BRCA-EU 6 158253089 158253089 deletion of <=200bp A - intron_variant BRCA-EU 6 158253751 158253751 single base substitution C T intron_variant BRCA-EU 6 158254623 158254623 single base substitution C A intron_variant BRCA-EU 6 158257550 158257550 single base substitution C T intron_variant BRCA-EU 6 158259361 158259361 single base substitution T A intron_variant BRCA-EU 6 158260191 158260191 single base substitution G C intron_variant BRCA-EU 6 158261177 158261177 single base substitution G A intron_variant BRCA-EU 6 158261505 158261506 deletion of <=200bp TC - intron_variant BRCA-EU 6 158264999 158264999 single base substitution C G intron_variant BRCA-EU 6 158268655 158268655 single base substitution A G intron_variant BRCA-EU 6 158273790 158273790 single base substitution G C intron_variant BRCA-EU 6 158276134 158276134 single base substitution G A intron_variant BRCA-EU 6 158276548 158276548 single base substitution C G intron_variant BRCA-EU 6 158277481 158277481 single base substitution A G intron_variant BRCA-EU 6 158277847 158277847 insertion of <=200bp - T intron_variant BRCA-EU 6 158278368 158278368 single base substitution G A intron_variant BRCA-EU 6 158279303 158279303 single base substitution A C intron_variant BRCA-EU 6 158279574 158279574 single base substitution G C intron_variant BRCA-EU 6 158280613 158280613 single base substitution G C intron_variant BRCA-EU 6 158280865 158280877 deletion of <=200bp TTTGTGATATGAA - intron_variant BRCA-EU 6 158281945 158281945 single base substitution C T intron_variant BRCA-EU 6 158283476 158283476 single base substitution C G intron_variant BRCA-EU 6 158285588 158285588 single base substitution A T intron_variant BRCA-EU 6 158286717 158286717 single base substitution C G intron_variant BRCA-EU 6 158288695 158288695 single base substitution G C intron_variant BRCA-EU 6 158289142 158289142 single base substitution C G intron_variant BRCA-EU 6 158290592 158290592 single base substitution C T intron_variant BRCA-EU 6 158292321 158292321 single base substitution G A intron_variant BRCA-EU 6 158293245 158293245 single base substitution T G intron_variant BRCA-EU 6 158295348 158295348 single base substitution G A intron_variant BRCA-EU 6 158297027 158297027 deletion of <=200bp A - intron_variant BRCA-EU 6 158297876 158297876 single base substitution A T intron_variant BRCA-EU 6 158300732 158300732 single base substitution A G intron_variant BRCA-EU 6 158300886 158300886 single base substitution T G intron_variant BRCA-EU 6 158301546 158301546 single base substitution C T intron_variant BRCA-EU 6 158304156 158304156 deletion of <=200bp C - intron_variant BRCA-EU 6 158305947 158305947 single base substitution A G intron_variant BRCA-EU 6 158308260 158308260 single base substitution A T intron_variant BRCA-EU 6 158309637 158309637 single base substitution G C intron_variant BRCA-EU 6 158310939 158310939 single base substitution G T intron_variant BRCA-EU 6 158310940 158310940 single base substitution C T intron_variant BRCA-EU 6 158311413 158311413 single base substitution G T intron_variant BRCA-EU 6 158311755 158311755 single base substitution G A intron_variant BRCA-EU 6 158312032 158312032 single base substitution A G intron_variant BRCA-EU 6 158312645 158312645 single base substitution A G intron_variant BRCA-EU 6 158312897 158312897 single base substitution G A intron_variant BRCA-EU 6 158313068 158313068 single base substitution G C intron_variant BRCA-EU 6 158314061 158314061 single base substitution C G intron_variant BRCA-EU 6 158316133 158316134 deletion of <=200bp AT - intron_variant BRCA-EU 6 158318223 158318223 single base substitution C G intron_variant BRCA-EU 6 158318816 158318816 single base substitution G T intron_variant BRCA-EU 6 158319802 158319802 single base substitution T G intron_variant BRCA-EU 6 158319803 158319803 single base substitution G A intron_variant BRCA-EU 6 158319822 158319822 single base substitution C G intron_variant BRCA-EU 6 158321999 158321999 single base substitution G C intron_variant BRCA-EU 6 158323053 158323053 single base substitution C T missense_variant S199L 596C>T BRCA-EU 6 158323241 158323241 single base substitution A G intron_variant BRCA-EU 6 158323748 158323748 single base substitution G A intron_variant BRCA-EU 6 158325042 158325042 deletion of <=200bp A - intron_variant BRCA-EU 6 158325365 158325365 single base substitution C T intron_variant BRCA-EU 6 158328220 158328220 single base substitution T A intron_variant BRCA-EU 6 158328997 158328997 single base substitution T C intron_variant BRCA-EU 6 158330676 158330676 single base substitution C G intron_variant BRCA-EU 6 158331070 158331070 single base substitution A G intron_variant BRCA-EU 6 158331648 158331648 single base substitution T G intron_variant BRCA-EU 6 158332080 158332080 single base substitution G T intron_variant BRCA-EU 6 158334026 158334026 single base substitution A G intron_variant BRCA-EU 6 158334577 158334577 deletion of <=200bp T - intron_variant BRCA-EU 6 158336027 158336027 deletion of <=200bp T - intron_variant BRCA-EU 6 158336134 158336134 single base substitution G A intron_variant BRCA-EU 6 158336680 158336680 single base substitution T C intron_variant BRCA-EU 6 158337409 158337409 single base substitution G C intron_variant BRCA-EU 6 158339073 158339073 single base substitution T A intron_variant BRCA-EU 6 158339484 158339484 single base substitution T C intron_variant BRCA-EU 6 158341020 158341020 single base substitution T A intron_variant BRCA-EU 6 158341022 158341022 single base substitution G T intron_variant BRCA-EU 6 158341863 158341863 single base substitution C G intron_variant BRCA-EU 6 158344518 158344518 single base substitution A G intron_variant BRCA-EU 6 158345005 158345005 single base substitution G A intron_variant BRCA-EU 6 158347244 158347244 single base substitution G C intron_variant BRCA-EU 6 158347420 158347420 insertion of <=200bp - A intron_variant BRCA-EU 6 158348956 158348956 single base substitution A G intron_variant BRCA-EU 6 158349110 158349110 single base substitution C T intron_variant BRCA-EU 6 158350358 158350358 single base substitution T G intron_variant BRCA-EU 6 158350641 158350641 deletion of <=200bp A - intron_variant BRCA-EU 6 158350982 158350982 single base substitution A G intron_variant BRCA-EU 6 158352879 158352879 single base substitution C T intron_variant BRCA-EU 6 158353192 158353192 single base substitution A G intron_variant BRCA-EU 6 158353477 158353477 single base substitution G C intron_variant BRCA-EU 6 158353671 158353671 single base substitution G A intron_variant BRCA-EU 6 158354576 158354576 single base substitution G C intron_variant BRCA-EU 6 158356897 158356897 single base substitution C G intron_variant BRCA-EU 6 158356987 158356987 single base substitution C T intron_variant BRCA-EU 6 158357935 158357935 single base substitution T G intron_variant BRCA-EU 6 158359583 158359583 single base substitution G C intron_variant BRCA-EU 6 158360094 158360094 single base substitution A G intron_variant BRCA-EU 6 158360906 158360906 single base substitution C A intron_variant BRCA-EU 6 158361585 158361585 single base substitution G T intron_variant BRCA-EU 6 158363599 158363599 single base substitution G A intron_variant BRCA-EU 6 158364503 158364513 deletion of <=200bp CCTCCAGGGGG - 3_prime_UTR_variant BRCA-EU 6 158364578 158364578 single base substitution G A 3_prime_UTR_variant BRCA-EU 6 158364687 158364687 single base substitution T C 3_prime_UTR_variant BRCA-EU 6 158364783 158364783 single base substitution G T 3_prime_UTR_variant BRCA-EU 6 158364853 158364853 single base substitution C T 3_prime_UTR_variant BRCA-EU 6 158367995 158367995 single base substitution G A downstream_gene_variant BRCA-EU 6 158368759 158368759 deletion of <=200bp T - downstream_gene_variant BRCA-EU 6 158369530 158369530 single base substitution A G downstream_gene_variant BRCA-FR 6 158254840 158254840 single base substitution G A intron_variant BRCA-FR 6 158268738 158268738 single base substitution G C intron_variant BRCA-FR 6 158296335 158296335 single base substitution G A intron_variant BRCA-FR 6 158319803 158319803 single base substitution G A intron_variant BRCA-FR 6 158333524 158333524 single base substitution G A intron_variant BRCA-FR 6 158336134 158336134 single base substitution G A intron_variant BRCA-FR 6 158337409 158337409 single base substitution G C intron_variant BRCA-FR 6 158353477 158353477 single base substitution G C intron_variant BRCA-FR 6 158359583 158359583 single base substitution G C intron_variant BRCA-FR 6 158371088 158371088 single base substitution G A downstream_gene_variant BRCA-UK 6 158264999 158264999 single base substitution C G intron_variant BRCA-UK 6 158352153 158352153 single base substitution C T intron_variant BRCA-US 6 158288594 158288594 single base substitution G A missense_variant D10N 28G>A BRCA-US 6 158349702 158349702 single base substitution T G missense_variant V419G 1256T>G BRCA-US 6 158359728 158359728 single base substitution G C missense_variant D533H 1597G>C BTCA-JP 6 158294104 158294104 single base substitution C T intron_variant BTCA-JP 6 158296212 158296212 single base substitution C T splice_region_variant BTCA-JP 6 158323094 158323094 single base substitution G A intron_variant BTCA-JP 6 158363899 158363899 single base substitution C T 3_prime_UTR_variant CESC-US 6 158288594 158288594 single base substitution G C missense_variant D10H 28G>C CLLE-ES 6 158247895 158247895 single base substitution T C intron_variant CLLE-ES 6 158248033 158248033 single base substitution A G intron_variant CLLE-ES 6 158275526 158275526 single base substitution A C intron_variant CLLE-ES 6 158289234 158289234 single base substitution C T intron_variant CLLE-ES 6 158299377 158299377 single base substitution G T intron_variant CLLE-ES 6 158319017 158319017 single base substitution A G intron_variant CLLE-ES 6 158332810 158332810 single base substitution G A intron_variant CLLE-ES 6 158337356 158337356 single base substitution G A intron_variant CLLE-ES 6 158341207 158341207 single base substitution A G intron_variant CLLE-ES 6 158346583 158346583 single base substitution T C intron_variant COAD-US 6 158323000 158323001 deletion of <=200bp AG - frameshift_variant SE181 COAD-US 6 158330765 158330765 single base substitution G A synonymous_variant R258R 774G>A COCA-CN 6 158240179 158240179 single base substitution T A upstream_gene_variant COCA-CN 6 158243888 158243888 single base substitution G T upstream_gene_variant COCA-CN 6 158261273 158261273 single base substitution G A intron_variant COCA-CN 6 158261455 158261455 single base substitution T C intron_variant COCA-CN 6 158261464 158261464 single base substitution T C intron_variant COCA-CN 6 158273621 158273621 single base substitution G T intron_variant COCA-CN 6 158274824 158274824 single base substitution A T intron_variant COCA-CN 6 158279546 158279546 single base substitution G A intron_variant COCA-CN 6 158288725 158288725 single base substitution G A intron_variant COCA-CN 6 158300211 158300211 single base substitution G A intron_variant COCA-CN 6 158303170 158303170 single base substitution G A intron_variant COCA-CN 6 158305317 158305317 single base substitution A T intron_variant COCA-CN 6 158323681 158323681 single base substitution C A intron_variant COCA-CN 6 158330856 158330856 single base substitution T C intron_variant COCA-CN 6 158330962 158330962 single base substitution A G missense_variant H285R 854A>G COCA-CN 6 158334992 158334992 single base substitution T A intron_variant COCA-CN 6 158340499 158340499 single base substitution G T intron_variant COCA-CN 6 158344471 158344471 single base substitution T A intron_variant COCA-CN 6 158349679 158349679 single base substitution C T synonymous_variant D411D 1233C>T COCA-CN 6 158352584 158352584 single base substitution A G intron_variant COCA-CN 6 158357090 158357090 single base substitution C T intron_variant COCA-CN 6 158358658 158358658 single base substitution C G intron_variant COCA-CN 6 158359815 158359815 single base substitution A G intron_variant COCA-CN 6 158359817 158359817 single base substitution T G intron_variant COCA-CN 6 158363602 158363602 single base substitution G A intron_variant EOPC-DE 6 158366109 158366109 single base substitution G A 3_prime_UTR_variant EOPC-DE 6 158370215 158370215 single base substitution C T downstream_gene_variant ESAD-UK 6 158240017 158240017 single base substitution T C upstream_gene_variant ESAD-UK 6 158240604 158240604 single base substitution C T upstream_gene_variant ESAD-UK 6 158244563 158244563 single base substitution T C intron_variant ESAD-UK 6 158247821 158247821 single base substitution T C intron_variant ESAD-UK 6 158249818 158249818 single base substitution C T intron_variant ESAD-UK 6 158249934 158249934 single base substitution G T intron_variant ESAD-UK 6 158257569 158257569 single base substitution C T intron_variant ESAD-UK 6 158260614 158260614 single base substitution A G intron_variant ESAD-UK 6 158260714 158260714 single base substitution C T intron_variant ESAD-UK 6 158260940 158260940 single base substitution C A intron_variant ESAD-UK 6 158265651 158265651 single base substitution A C intron_variant ESAD-UK 6 158267301 158267301 single base substitution C A intron_variant ESAD-UK 6 158272187 158272187 single base substitution G A intron_variant ESAD-UK 6 158276739 158276739 single base substitution C T intron_variant ESAD-UK 6 158278492 158278492 single base substitution A T intron_variant ESAD-UK 6 158290654 158290654 single base substitution G A intron_variant ESAD-UK 6 158293054 158293054 single base substitution A G intron_variant ESAD-UK 6 158293663 158293663 single base substitution G T intron_variant ESAD-UK 6 158295337 158295337 single base substitution G A intron_variant ESAD-UK 6 158297823 158297823 single base substitution G C intron_variant ESAD-UK 6 158297846 158297846 single base substitution A G intron_variant ESAD-UK 6 158299988 158299988 single base substitution T A intron_variant ESAD-UK 6 158301567 158301567 insertion of <=200bp - C intron_variant ESAD-UK 6 158306123 158306123 single base substitution A G intron_variant ESAD-UK 6 158309266 158309266 single base substitution T C intron_variant ESAD-UK 6 158310061 158310061 single base substitution G A intron_variant ESAD-UK 6 158310326 158310326 single base substitution G A intron_variant ESAD-UK 6 158313269 158313269 single base substitution G T intron_variant ESAD-UK 6 158313674 158313674 single base substitution C G intron_variant ESAD-UK 6 158317561 158317561 single base substitution G C intron_variant ESAD-UK 6 158317635 158317635 insertion of <=200bp - A intron_variant ESAD-UK 6 158318846 158318846 single base substitution C T intron_variant ESAD-UK 6 158324457 158324457 single base substitution A G intron_variant ESAD-UK 6 158324507 158324507 single base substitution C T intron_variant ESAD-UK 6 158325102 158325102 single base substitution T A intron_variant ESAD-UK 6 158328715 158328715 single base substitution T G intron_variant ESAD-UK 6 158328759 158328759 single base substitution A G intron_variant ESAD-UK 6 158329258 158329258 single base substitution A G intron_variant ESAD-UK 6 158331793 158331793 single base substitution T G intron_variant ESAD-UK 6 158333912 158333912 deletion of <=200bp T - intron_variant ESAD-UK 6 158336139 158336139 single base substitution T A intron_variant ESAD-UK 6 158340579 158340579 single base substitution A G intron_variant ESAD-UK 6 158340632 158340632 single base substitution T C intron_variant ESAD-UK 6 158344642 158344642 single base substitution A G intron_variant ESAD-UK 6 158345580 158345580 single base substitution G A intron_variant ESAD-UK 6 158347728 158347728 deletion of <=200bp G - intron_variant ESAD-UK 6 158348307 158348307 single base substitution G T intron_variant ESAD-UK 6 158351108 158351108 single base substitution C G intron_variant ESAD-UK 6 158351167 158351167 single base substitution A G intron_variant ESAD-UK 6 158351347 158351347 single base substitution C A intron_variant ESAD-UK 6 158352608 158352608 single base substitution A C intron_variant ESAD-UK 6 158355456 158355456 insertion of <=200bp - A intron_variant ESAD-UK 6 158365211 158365211 single base substitution G A 3_prime_UTR_variant ESAD-UK 6 158367676 158367676 single base substitution G A downstream_gene_variant ESAD-UK 6 158368679 158368679 single base substitution A G downstream_gene_variant GBM-US 6 158331016 158331016 single base substitution C T missense_variant S303L 908C>T GBM-US 6 158342573 158342573 single base substitution A T missense_variant E320D 960A>T GBM-US 6 158357061 158357061 single base substitution G T missense_variant V478L 1432G>T KIRC-US 6 158330994 158330994 single base substitution C T missense_variant R296C 886C>T KIRP-US 6 158288583 158288583 single base substitution G A missense_variant R6Q 17G>A KIRP-US 6 158330822 158330822 single base substitution T G splice_region_variant KIRP-US 6 158358486 158358486 single base substitution C A missense_variant F488L 1464C>A LAML-KR 6 158291535 158291535 single base substitution C T intron_variant LAML-KR 6 158291563 158291563 single base substitution C T intron_variant LAML-KR 6 158291745 158291745 single base substitution T C intron_variant LAML-KR 6 158294184 158294184 single base substitution G C synonymous_variant G50G 150G>C LAML-KR 6 158359815 158359815 single base substitution A G intron_variant LAML-KR 6 158363896 158363896 single base substitution C T 3_prime_UTR_variant LICA-FR 6 158257177 158257177 single base substitution C G intron_variant LICA-FR 6 158288579 158288579 single base substitution G T missense_variant A5S 13G>T LICA-FR 6 158294519 158294519 single base substitution A G intron_variant LICA-FR 6 158302191 158302191 single base substitution T G intron_variant LICA-FR 6 158317935 158317935 single base substitution G A missense_variant G126E 377G>A LICA-FR 6 158344550 158344550 single base substitution G A intron_variant LIHC-US 6 158296186 158296186 single base substitution C T missense_variant S93L 278C>T LINC-JP 6 158241735 158241735 single base substitution G T upstream_gene_variant LINC-JP 6 158251260 158251260 single base substitution C A intron_variant LINC-JP 6 158259680 158259680 single base substitution T C intron_variant LINC-JP 6 158264274 158264274 single base substitution C T intron_variant LINC-JP 6 158265122 158265122 single base substitution G A intron_variant LINC-JP 6 158276223 158276223 single base substitution T C intron_variant LINC-JP 6 158276566 158276566 single base substitution G C intron_variant LINC-JP 6 158277806 158277806 single base substitution T C intron_variant LINC-JP 6 158277808 158277808 single base substitution C A intron_variant LINC-JP 6 158281004 158281004 single base substitution T C intron_variant LINC-JP 6 158288460 158288460 insertion of <=200bp - C intron_variant LINC-JP 6 158289201 158289201 single base substitution T G intron_variant LINC-JP 6 158296808 158296808 single base substitution G A intron_variant LINC-JP 6 158305160 158305160 single base substitution C G intron_variant LINC-JP 6 158312053 158312053 single base substitution C T intron_variant LINC-JP 6 158318355 158318355 single base substitution T G intron_variant LINC-JP 6 158326579 158326579 single base substitution T C intron_variant LINC-JP 6 158331061 158331061 single base substitution A G splice_region_variant LINC-JP 6 158334589 158334589 single base substitution A T intron_variant LINC-JP 6 158363875 158363875 insertion of <=200bp - GAACGGGCCTTGAAGAGAAT 3_prime_UTR_variant LINC-JP 6 158366889 158366889 single base substitution G T downstream_gene_variant LIRI-JP 6 158240021 158240021 single base substitution T G upstream_gene_variant LIRI-JP 6 158240092 158240092 single base substitution A G upstream_gene_variant LIRI-JP 6 158241197 158241197 single base substitution C T upstream_gene_variant LIRI-JP 6 158245433 158245433 single base substitution G A intron_variant LIRI-JP 6 158247635 158247635 deletion of <=200bp T - intron_variant LIRI-JP 6 158248581 158248581 single base substitution T G intron_variant LIRI-JP 6 158250508 158250508 single base substitution T C intron_variant LIRI-JP 6 158251230 158251230 single base substitution A C intron_variant LIRI-JP 6 158251580 158251580 single base substitution A G intron_variant LIRI-JP 6 158254760 158254762 deletion of <=200bp CTC - intron_variant LIRI-JP 6 158256226 158256226 single base substitution G T intron_variant LIRI-JP 6 158256499 158256499 single base substitution C T intron_variant LIRI-JP 6 158257344 158257344 single base substitution A G intron_variant LIRI-JP 6 158257748 158257748 single base substitution A G intron_variant LIRI-JP 6 158262551 158262551 single base substitution T C intron_variant LIRI-JP 6 158263921 158263921 single base substitution C A intron_variant LIRI-JP 6 158265126 158265126 single base substitution C A intron_variant LIRI-JP 6 158266707 158266707 single base substitution A G intron_variant LIRI-JP 6 158266892 158266897 deletion of <=200bp TTGGTA - intron_variant LIRI-JP 6 158270240 158270240 single base substitution A G intron_variant LIRI-JP 6 158270617 158270617 single base substitution A G intron_variant LIRI-JP 6 158272315 158272315 single base substitution A G intron_variant LIRI-JP 6 158273022 158273022 single base substitution A G intron_variant LIRI-JP 6 158274060 158274060 single base substitution A G intron_variant LIRI-JP 6 158277644 158277644 single base substitution A G intron_variant LIRI-JP 6 158278571 158278571 single base substitution G T intron_variant LIRI-JP 6 158280227 158280227 single base substitution T A intron_variant LIRI-JP 6 158281819 158281819 single base substitution G A intron_variant LIRI-JP 6 158282216 158282216 single base substitution G A intron_variant LIRI-JP 6 158282257 158282257 single base substitution G A intron_variant LIRI-JP 6 158282655 158282655 single base substitution G A intron_variant LIRI-JP 6 158282926 158282926 single base substitution A G intron_variant LIRI-JP 6 158286100 158286100 single base substitution G T intron_variant LIRI-JP 6 158287480 158287480 single base substitution C T intron_variant LIRI-JP 6 158289364 158289364 single base substitution T C intron_variant LIRI-JP 6 158291013 158291013 single base substitution T C intron_variant LIRI-JP 6 158292424 158292424 single base substitution A G intron_variant LIRI-JP 6 158296509 158296509 single base substitution A G intron_variant LIRI-JP 6 158296673 158296673 single base substitution C T intron_variant LIRI-JP 6 158297198 158297198 single base substitution T C intron_variant LIRI-JP 6 158299382 158299382 single base substitution A G intron_variant LIRI-JP 6 158302894 158302894 single base substitution C G intron_variant LIRI-JP 6 158303969 158303969 single base substitution A G intron_variant LIRI-JP 6 158309037 158309037 single base substitution A C intron_variant LIRI-JP 6 158309178 158309178 single base substitution A G intron_variant LIRI-JP 6 158310131 158310131 single base substitution A G intron_variant LIRI-JP 6 158311377 158311377 single base substitution A G intron_variant LIRI-JP 6 158311630 158311630 single base substitution C G intron_variant LIRI-JP 6 158315028 158315028 single base substitution A G intron_variant LIRI-JP 6 158315208 158315208 single base substitution C T intron_variant LIRI-JP 6 158315582 158315582 single base substitution G T intron_variant LIRI-JP 6 158318511 158318511 single base substitution G T intron_variant LIRI-JP 6 158320065 158320065 single base substitution A G intron_variant LIRI-JP 6 158320563 158320563 single base substitution G A intron_variant LIRI-JP 6 158321096 158321096 single base substitution G T intron_variant LIRI-JP 6 158322449 158322449 single base substitution G A intron_variant LIRI-JP 6 158322786 158322786 single base substitution T A intron_variant LIRI-JP 6 158322787 158322787 single base substitution A T intron_variant LIRI-JP 6 158326441 158326441 single base substitution T C intron_variant LIRI-JP 6 158328005 158328005 single base substitution G A intron_variant LIRI-JP 6 158328917 158328917 single base substitution A G intron_variant LIRI-JP 6 158332804 158332804 single base substitution T C intron_variant LIRI-JP 6 158333407 158333407 single base substitution A G intron_variant LIRI-JP 6 158334635 158334635 single base substitution A G intron_variant LIRI-JP 6 158334905 158334905 single base substitution A G intron_variant LIRI-JP 6 158335217 158335217 single base substitution G T intron_variant LIRI-JP 6 158336902 158336902 single base substitution A G intron_variant LIRI-JP 6 158337136 158337136 single base substitution G A intron_variant LIRI-JP 6 158337383 158337383 single base substitution G A intron_variant LIRI-JP 6 158349772 158349772 single base substitution G A intron_variant LIRI-JP 6 158349805 158349805 insertion of <=200bp - T intron_variant LIRI-JP 6 158350130 158350130 single base substitution C A intron_variant LIRI-JP 6 158350306 158350306 single base substitution A G intron_variant LIRI-JP 6 158351459 158351459 single base substitution A G intron_variant LIRI-JP 6 158351557 158351557 single base substitution C T intron_variant LIRI-JP 6 158352115 158352115 single base substitution C G intron_variant LIRI-JP 6 158352158 158352158 deletion of <=200bp C - intron_variant LIRI-JP 6 158355033 158355033 single base substitution C G intron_variant LIRI-JP 6 158355268 158355268 single base substitution C A intron_variant LIRI-JP 6 158356106 158356106 single base substitution C G intron_variant LIRI-JP 6 158359838 158359838 single base substitution T A intron_variant LIRI-JP 6 158360737 158360737 single base substitution G A intron_variant LIRI-JP 6 158360990 158360990 insertion of <=200bp - GGGGCA intron_variant LIRI-JP 6 158361348 158361348 single base substitution T A intron_variant LIRI-JP 6 158363848 158363848 single base substitution T G missense_variant L589R 1766T>G LIRI-JP 6 158364729 158364729 single base substitution G A 3_prime_UTR_variant LIRI-JP 6 158365057 158365057 single base substitution C T 3_prime_UTR_variant LIRI-JP 6 158367954 158367954 single base substitution A G downstream_gene_variant LIRI-JP 6 158370942 158370942 single base substitution G A downstream_gene_variant LUSC-KR 6 158241735 158241735 single base substitution G T upstream_gene_variant LUSC-KR 6 158242049 158242049 single base substitution G C upstream_gene_variant LUSC-KR 6 158245107 158245107 single base substitution C G intron_variant LUSC-KR 6 158251468 158251468 single base substitution G C intron_variant LUSC-KR 6 158256494 158256494 single base substitution G T intron_variant LUSC-KR 6 158262554 158262554 single base substitution A C intron_variant LUSC-KR 6 158265627 158265627 single base substitution T G intron_variant LUSC-KR 6 158267366 158267366 single base substitution T C intron_variant LUSC-KR 6 158273076 158273076 single base substitution G A intron_variant LUSC-KR 6 158279329 158279329 single base substitution A T intron_variant LUSC-KR 6 158280576 158280576 single base substitution G A intron_variant LUSC-KR 6 158285827 158285827 single base substitution C T intron_variant LUSC-KR 6 158286372 158286372 single base substitution G A intron_variant LUSC-KR 6 158291535 158291535 single base substitution C T intron_variant LUSC-KR 6 158291563 158291563 single base substitution C T intron_variant LUSC-KR 6 158291652 158291652 single base substitution C T intron_variant LUSC-KR 6 158291661 158291661 single base substitution T C intron_variant LUSC-KR 6 158291745 158291745 single base substitution T C intron_variant LUSC-KR 6 158291860 158291860 single base substitution T C intron_variant LUSC-KR 6 158294023 158294023 single base substitution G A intron_variant LUSC-KR 6 158296871 158296871 single base substitution A T intron_variant LUSC-KR 6 158299204 158299204 single base substitution A G intron_variant LUSC-KR 6 158301038 158301038 single base substitution A G intron_variant LUSC-KR 6 158302384 158302384 single base substitution G A intron_variant LUSC-KR 6 158306421 158306421 single base substitution G C intron_variant LUSC-KR 6 158311468 158311468 single base substitution T A intron_variant LUSC-KR 6 158312494 158312494 single base substitution G A intron_variant LUSC-KR 6 158312586 158312586 single base substitution G T intron_variant LUSC-KR 6 158322683 158322683 single base substitution G C intron_variant LUSC-KR 6 158326260 158326260 single base substitution G A intron_variant LUSC-KR 6 158327269 158327269 single base substitution T C intron_variant LUSC-KR 6 158331603 158331603 single base substitution A T intron_variant LUSC-KR 6 158333014 158333014 single base substitution G C intron_variant LUSC-KR 6 158335660 158335660 single base substitution C T intron_variant LUSC-KR 6 158343844 158343844 single base substitution G A intron_variant LUSC-KR 6 158350980 158350980 single base substitution A G intron_variant LUSC-KR 6 158351464 158351464 single base substitution G T intron_variant LUSC-KR 6 158355435 158355435 single base substitution A C intron_variant LUSC-KR 6 158357201 158357201 single base substitution T G intron_variant LUSC-KR 6 158359276 158359276 single base substitution A T intron_variant LUSC-KR 6 158363602 158363602 single base substitution G A intron_variant LUSC-KR 6 158368331 158368331 single base substitution C T downstream_gene_variant LUSC-US 6 158318005 158318005 single base substitution C A synonymous_variant G149G 447C>A LUSC-US 6 158327175 158327175 single base substitution G A synonymous_variant A212A 636G>A LUSC-US 6 158349731 158349731 single base substitution G T missense_variant G429C 1285G>T LUSC-US 6 158357063 158357063 single base substitution G T synonymous_variant V478V 1434G>T LUSC-US 6 158358489 158358489 single base substitution G C synonymous_variant L489L 1467G>C MALY-DE 6 158246325 158246325 single base substitution T G intron_variant MALY-DE 6 158246667 158246667 single base substitution C T intron_variant MALY-DE 6 158250150 158250150 single base substitution A G intron_variant MALY-DE 6 158253125 158253125 single base substitution A C intron_variant MALY-DE 6 158253456 158253456 single base substitution G T intron_variant MALY-DE 6 158272288 158272288 deletion of <=200bp A - intron_variant MALY-DE 6 158282977 158282977 single base substitution A G intron_variant MALY-DE 6 158307741 158307741 single base substitution G T intron_variant MALY-DE 6 158313367 158313367 single base substitution G A intron_variant MALY-DE 6 158314373 158314373 single base substitution A G intron_variant MALY-DE 6 158317595 158317595 single base substitution A G intron_variant MALY-DE 6 158317653 158317653 single base substitution A G intron_variant MALY-DE 6 158319555 158319555 single base substitution A G intron_variant MALY-DE 6 158319747 158319747 single base substitution A G intron_variant MALY-DE 6 158322895 158322895 single base substitution T G intron_variant MALY-DE 6 158324000 158324000 insertion of <=200bp - A intron_variant MALY-DE 6 158328471 158328471 single base substitution G A intron_variant MALY-DE 6 158333046 158333046 single base substitution G C intron_variant MALY-DE 6 158336120 158336120 insertion of <=200bp - A intron_variant MALY-DE 6 158344136 158344136 single base substitution G A intron_variant MALY-DE 6 158347420 158347420 single base substitution A T intron_variant MALY-DE 6 158348963 158348964 deletion of <=200bp AC - intron_variant MALY-DE 6 158360202 158360202 single base substitution G T intron_variant MALY-DE 6 158360990 158360990 insertion of <=200bp - GGGGCA intron_variant MALY-DE 6 158367774 158367774 single base substitution A G downstream_gene_variant MELA-AU 6 158240965 158240965 single base substitution G A upstream_gene_variant MELA-AU 6 158241095 158241095 single base substitution C T upstream_gene_variant MELA-AU 6 158241428 158241428 single base substitution G A upstream_gene_variant MELA-AU 6 158241612 158241612 single base substitution G A upstream_gene_variant MELA-AU 6 158243555 158243555 single base substitution G A upstream_gene_variant MELA-AU 6 158247723 158247723 single base substitution A T intron_variant MELA-AU 6 158247891 158247891 single base substitution T C intron_variant MELA-AU 6 158249172 158249172 single base substitution T A intron_variant MELA-AU 6 158249455 158249455 deletion of <=200bp T - intron_variant MELA-AU 6 158249883 158249883 single base substitution G A intron_variant MELA-AU 6 158251664 158251664 single base substitution C T intron_variant MELA-AU 6 158251718 158251718 single base substitution T C intron_variant MELA-AU 6 158252294 158252294 single base substitution T A intron_variant MELA-AU 6 158252623 158252624 multiple base substitution (>=2bp and <=200bp) CC TT intron_variant MELA-AU 6 158254420 158254420 single base substitution T C intron_variant MELA-AU 6 158255131 158255131 single base substitution C T intron_variant MELA-AU 6 158255270 158255270 single base substitution C T intron_variant MELA-AU 6 158255722 158255722 single base substitution C T intron_variant MELA-AU 6 158256264 158256264 single base substitution C T intron_variant MELA-AU 6 158256296 158256296 single base substitution C T intron_variant MELA-AU 6 158256807 158256807 single base substitution C T intron_variant MELA-AU 6 158257061 158257062 multiple base substitution (>=2bp and <=200bp) AC CT intron_variant MELA-AU 6 158257485 158257485 single base substitution C T intron_variant MELA-AU 6 158258183 158258183 single base substitution A C intron_variant MELA-AU 6 158258717 158258717 single base substitution T A intron_variant MELA-AU 6 158258730 158258730 single base substitution T A intron_variant MELA-AU 6 158259051 158259051 single base substitution C T intron_variant MELA-AU 6 158259570 158259570 single base substitution C T intron_variant MELA-AU 6 158259837 158259837 single base substitution C T intron_variant MELA-AU 6 158260126 158260126 single base substitution G A intron_variant MELA-AU 6 158260701 158260701 single base substitution C T intron_variant MELA-AU 6 158260821 158260821 single base substitution C T intron_variant MELA-AU 6 158261492 158261492 single base substitution C T intron_variant MELA-AU 6 158261501 158261501 single base substitution C T intron_variant MELA-AU 6 158261693 158261693 single base substitution C T intron_variant MELA-AU 6 158263030 158263030 single base substitution C T intron_variant MELA-AU 6 158263269 158263269 single base substitution C T intron_variant MELA-AU 6 158266128 158266128 single base substitution C T intron_variant MELA-AU 6 158267078 158267078 single base substitution C T intron_variant MELA-AU 6 158267910 158267910 single base substitution C T intron_variant MELA-AU 6 158268011 158268011 single base substitution G T intron_variant MELA-AU 6 158268258 158268258 single base substitution C T intron_variant MELA-AU 6 158268583 158268583 single base substitution C T intron_variant MELA-AU 6 158269407 158269407 single base substitution C T intron_variant MELA-AU 6 158271610 158271610 single base substitution C T intron_variant MELA-AU 6 158274111 158274111 single base substitution C T intron_variant MELA-AU 6 158275880 158275880 single base substitution C T intron_variant MELA-AU 6 158275932 158275932 single base substitution C T intron_variant MELA-AU 6 158275933 158275933 single base substitution C T intron_variant MELA-AU 6 158277674 158277674 single base substitution T C intron_variant MELA-AU 6 158278352 158278352 single base substitution T A intron_variant MELA-AU 6 158278612 158278612 single base substitution T C intron_variant MELA-AU 6 158279330 158279330 single base substitution G A intron_variant MELA-AU 6 158279942 158279942 single base substitution C T intron_variant MELA-AU 6 158280071 158280071 single base substitution C T intron_variant MELA-AU 6 158280485 158280485 single base substitution T A intron_variant MELA-AU 6 158280552 158280552 single base substitution C T intron_variant MELA-AU 6 158284000 158284000 single base substitution G A intron_variant MELA-AU 6 158285017 158285017 single base substitution A C intron_variant MELA-AU 6 158285114 158285114 single base substitution T C intron_variant MELA-AU 6 158285120 158285120 single base substitution C T intron_variant MELA-AU 6 158285934 158285935 multiple base substitution (>=2bp and <=200bp) CC TT intron_variant MELA-AU 6 158288826 158288826 single base substitution C T intron_variant MELA-AU 6 158289091 158289091 single base substitution C T intron_variant MELA-AU 6 158289872 158289872 single base substitution C T intron_variant MELA-AU 6 158290132 158290132 single base substitution C T intron_variant MELA-AU 6 158290274 158290274 single base substitution C T intron_variant MELA-AU 6 158290882 158290882 single base substitution C T intron_variant MELA-AU 6 158292029 158292029 single base substitution C T intron_variant MELA-AU 6 158292406 158292406 single base substitution G A intron_variant MELA-AU 6 158292773 158292773 single base substitution C T intron_variant MELA-AU 6 158292843 158292843 single base substitution C T intron_variant MELA-AU 6 158293297 158293297 single base substitution T G intron_variant MELA-AU 6 158293442 158293442 single base substitution T G intron_variant MELA-AU 6 158294382 158294382 single base substitution A T intron_variant MELA-AU 6 158294991 158295009 deletion of <=200bp GAAGGTTCTTGGTAAGCTT - intron_variant MELA-AU 6 158296302 158296302 single base substitution C T intron_variant MELA-AU 6 158297563 158297563 single base substitution C T intron_variant MELA-AU 6 158298203 158298203 single base substitution C T intron_variant MELA-AU 6 158298453 158298453 single base substitution A C intron_variant MELA-AU 6 158300243 158300243 single base substitution C T intron_variant MELA-AU 6 158300356 158300356 single base substitution G T intron_variant MELA-AU 6 158301076 158301076 single base substitution C T intron_variant MELA-AU 6 158301842 158301842 single base substitution T C intron_variant MELA-AU 6 158302046 158302046 single base substitution G A intron_variant MELA-AU 6 158303602 158303602 single base substitution G A intron_variant MELA-AU 6 158305171 158305171 single base substitution C T intron_variant MELA-AU 6 158306726 158306726 single base substitution C T intron_variant MELA-AU 6 158308189 158308189 single base substitution C T intron_variant MELA-AU 6 158308988 158308988 single base substitution T C intron_variant MELA-AU 6 158309292 158309292 single base substitution C T intron_variant MELA-AU 6 158309354 158309354 single base substitution T G intron_variant MELA-AU 6 158309759 158309759 single base substitution C T intron_variant MELA-AU 6 158309881 158309881 single base substitution C T intron_variant MELA-AU 6 158309939 158309939 single base substitution C T intron_variant MELA-AU 6 158310030 158310030 single base substitution C T intron_variant MELA-AU 6 158310206 158310206 single base substitution T C intron_variant MELA-AU 6 158311248 158311248 single base substitution C T intron_variant MELA-AU 6 158311288 158311288 single base substitution C T intron_variant MELA-AU 6 158312912 158312912 single base substitution C T intron_variant MELA-AU 6 158313974 158313974 single base substitution C T intron_variant MELA-AU 6 158314173 158314173 single base substitution C T intron_variant MELA-AU 6 158314983 158314983 single base substitution C T intron_variant MELA-AU 6 158315844 158315844 single base substitution C T intron_variant MELA-AU 6 158317702 158317702 single base substitution G A intron_variant MELA-AU 6 158317834 158317834 single base substitution T A intron_variant MELA-AU 6 158317836 158317836 single base substitution C T intron_variant MELA-AU 6 158317909 158317909 single base substitution G A synonymous_variant G117G 351G>A MELA-AU 6 158318271 158318271 single base substitution C T intron_variant MELA-AU 6 158320352 158320352 single base substitution C T intron_variant MELA-AU 6 158320629 158320629 single base substitution C T intron_variant MELA-AU 6 158321013 158321013 single base substitution C T intron_variant MELA-AU 6 158321213 158321213 single base substitution T C intron_variant MELA-AU 6 158324532 158324532 single base substitution C A intron_variant MELA-AU 6 158325039 158325039 single base substitution T A intron_variant MELA-AU 6 158327039 158327039 single base substitution C T intron_variant MELA-AU 6 158328437 158328437 single base substitution C T intron_variant MELA-AU 6 158328520 158328520 single base substitution A C intron_variant MELA-AU 6 158329118 158329118 single base substitution C T intron_variant MELA-AU 6 158329125 158329125 single base substitution A G intron_variant MELA-AU 6 158329159 158329159 single base substitution C T intron_variant MELA-AU 6 158329324 158329324 single base substitution T A intron_variant MELA-AU 6 158329361 158329361 single base substitution C T intron_variant MELA-AU 6 158329410 158329410 single base substitution C T intron_variant MELA-AU 6 158329655 158329655 single base substitution C A intron_variant MELA-AU 6 158330605 158330605 single base substitution C T intron_variant MELA-AU 6 158331427 158331427 single base substitution G A intron_variant MELA-AU 6 158331949 158331949 single base substitution C T intron_variant MELA-AU 6 158332564 158332564 single base substitution G C intron_variant MELA-AU 6 158332566 158332566 single base substitution G A intron_variant MELA-AU 6 158332569 158332569 single base substitution C G intron_variant MELA-AU 6 158333911 158333911 single base substitution C T intron_variant MELA-AU 6 158334367 158334367 single base substitution A G intron_variant MELA-AU 6 158335219 158335219 single base substitution C T intron_variant MELA-AU 6 158336408 158336408 single base substitution C T intron_variant MELA-AU 6 158337021 158337021 single base substitution C T intron_variant MELA-AU 6 158337187 158337187 single base substitution C T intron_variant MELA-AU 6 158337190 158337191 multiple base substitution (>=2bp and <=200bp) CC TT intron_variant MELA-AU 6 158337430 158337430 single base substitution C T intron_variant MELA-AU 6 158338290 158338290 single base substitution T G intron_variant MELA-AU 6 158338493 158338493 single base substitution C T intron_variant MELA-AU 6 158338621 158338621 single base substitution T C intron_variant MELA-AU 6 158338658 158338658 single base substitution A T intron_variant MELA-AU 6 158338783 158338783 single base substitution A G intron_variant MELA-AU 6 158338861 158338861 single base substitution C T intron_variant MELA-AU 6 158339792 158339792 single base substitution C T intron_variant MELA-AU 6 158340241 158340241 single base substitution C G intron_variant MELA-AU 6 158340577 158340577 single base substitution C T intron_variant MELA-AU 6 158340676 158340676 single base substitution C T intron_variant MELA-AU 6 158340965 158340965 single base substitution C T intron_variant MELA-AU 6 158341226 158341226 single base substitution C T intron_variant MELA-AU 6 158342429 158342429 single base substitution C T intron_variant MELA-AU 6 158342567 158342567 single base substitution C T synonymous_variant R318R 954C>T MELA-AU 6 158342607 158342607 single base substitution C T stop_gained Q332* 994C>T MELA-AU 6 158343325 158343325 single base substitution C T intron_variant MELA-AU 6 158344472 158344472 single base substitution A G intron_variant MELA-AU 6 158345083 158345083 single base substitution C T intron_variant MELA-AU 6 158345144 158345144 single base substitution C T intron_variant MELA-AU 6 158345154 158345154 single base substitution C T intron_variant MELA-AU 6 158345582 158345582 single base substitution G A intron_variant MELA-AU 6 158347046 158347046 single base substitution C T intron_variant MELA-AU 6 158347184 158347184 single base substitution C T intron_variant MELA-AU 6 158347906 158347906 single base substitution C T intron_variant MELA-AU 6 158349140 158349141 multiple base substitution (>=2bp and <=200bp) TA CT intron_variant MELA-AU 6 158349346 158349346 single base substitution C T intron_variant MELA-AU 6 158349741 158349741 single base substitution C T splice_region_variant MELA-AU 6 158350049 158350049 single base substitution G A intron_variant MELA-AU 6 158350291 158350291 single base substitution C T intron_variant MELA-AU 6 158351320 158351320 single base substitution C T intron_variant MELA-AU 6 158351498 158351498 single base substitution C T intron_variant MELA-AU 6 158352419 158352419 single base substitution C T intron_variant MELA-AU 6 158352498 158352498 single base substitution C T intron_variant MELA-AU 6 158352907 158352907 single base substitution C T intron_variant MELA-AU 6 158354729 158354729 single base substitution C T intron_variant MELA-AU 6 158354944 158354944 single base substitution A T intron_variant MELA-AU 6 158355771 158355771 single base substitution C T intron_variant MELA-AU 6 158356596 158356596 single base substitution A G intron_variant MELA-AU 6 158357096 158357096 single base substitution C T intron_variant MELA-AU 6 158357159 158357159 single base substitution C T intron_variant MELA-AU 6 158357914 158357914 single base substitution A G intron_variant MELA-AU 6 158358883 158358883 single base substitution C T intron_variant MELA-AU 6 158360990 158360990 insertion of <=200bp - GGGGCA intron_variant MELA-AU 6 158361164 158361164 single base substitution C T intron_variant MELA-AU 6 158361841 158361841 single base substitution C T intron_variant MELA-AU 6 158362896 158362896 single base substitution C T intron_variant MELA-AU 6 158363285 158363285 single base substitution C T intron_variant MELA-AU 6 158363664 158363664 single base substitution C T intron_variant MELA-AU 6 158364509 158364510 multiple base substitution (>=2bp and <=200bp) GG AA 3_prime_UTR_variant MELA-AU 6 158365034 158365034 single base substitution C T 3_prime_UTR_variant MELA-AU 6 158365395 158365395 single base substitution C T 3_prime_UTR_variant MELA-AU 6 158365639 158365639 single base substitution C T 3_prime_UTR_variant MELA-AU 6 158366992 158366992 single base substitution C T downstream_gene_variant MELA-AU 6 158367137 158367137 single base substitution C T downstream_gene_variant MELA-AU 6 158367165 158367165 single base substitution C T downstream_gene_variant MELA-AU 6 158367181 158367181 single base substitution T A downstream_gene_variant MELA-AU 6 158367413 158367413 single base substitution C T downstream_gene_variant MELA-AU 6 158368903 158368903 single base substitution C T downstream_gene_variant MELA-AU 6 158368951 158368951 single base substitution C T downstream_gene_variant MELA-AU 6 158369315 158369315 single base substitution C T downstream_gene_variant MELA-AU 6 158369523 158369524 multiple base substitution (>=2bp and <=200bp) GT AA downstream_gene_variant MELA-AU 6 158369814 158369815 multiple base substitution (>=2bp and <=200bp) CC TT downstream_gene_variant MELA-AU 6 158369923 158369923 single base substitution C T downstream_gene_variant MELA-AU 6 158370633 158370633 single base substitution C G downstream_gene_variant MELA-AU 6 158370669 158370670 multiple base substitution (>=2bp and <=200bp) CC TT downstream_gene_variant MELA-AU 6 158370751 158370751 single base substitution C T downstream_gene_variant MELA-AU 6 158371056 158371056 single base substitution C T downstream_gene_variant ORCA-IN 6 158284549 158284549 single base substitution G C intron_variant ORCA-IN 6 158285881 158285881 single base substitution G C intron_variant ORCA-IN 6 158286180 158286180 single base substitution G A intron_variant ORCA-IN 6 158296819 158296819 single base substitution T C intron_variant ORCA-IN 6 158313519 158313519 deletion of <=200bp C - intron_variant ORCA-IN 6 158348202 158348202 single base substitution T G missense_variant F380L 1140T>G ORCA-IN 6 158354496 158354496 single base substitution G A intron_variant OV-AU 6 158239648 158239648 single base substitution C T upstream_gene_variant OV-AU 6 158240892 158240892 single base substitution G C upstream_gene_variant OV-AU 6 158251793 158251793 single base substitution G A intron_variant OV-AU 6 158257928 158257928 single base substitution C T intron_variant OV-AU 6 158265483 158265483 single base substitution A T intron_variant OV-AU 6 158266714 158266714 single base substitution G C intron_variant OV-AU 6 158268542 158268542 single base substitution G A intron_variant OV-AU 6 158273764 158273764 single base substitution A G intron_variant OV-AU 6 158274845 158274845 single base substitution T G intron_variant OV-AU 6 158288574 158288574 single base substitution G C splice_region_variant OV-AU 6 158294548 158294548 single base substitution T C intron_variant OV-AU 6 158295131 158295131 single base substitution G T intron_variant OV-AU 6 158295947 158295947 single base substitution G A intron_variant OV-AU 6 158317699 158317699 single base substitution T C intron_variant OV-AU 6 158325234 158325234 single base substitution G A intron_variant OV-AU 6 158331701 158331701 single base substitution A G intron_variant OV-AU 6 158333116 158333116 single base substitution C G intron_variant OV-AU 6 158340499 158340499 single base substitution G A intron_variant OV-AU 6 158342218 158342218 single base substitution A G intron_variant OV-AU 6 158345285 158345285 single base substitution G C intron_variant OV-AU 6 158346636 158346636 single base substitution A G intron_variant OV-AU 6 158347759 158347759 single base substitution G A intron_variant OV-AU 6 158352912 158352912 single base substitution G A intron_variant OV-AU 6 158357663 158357663 single base substitution T C intron_variant OV-AU 6 158363395 158363395 single base substitution C T intron_variant OV-AU 6 158368424 158368424 single base substitution C A downstream_gene_variant PACA-AU 6 158240736 158240736 single base substitution C A upstream_gene_variant PACA-AU 6 158241442 158241442 single base substitution G A upstream_gene_variant PACA-AU 6 158248513 158248513 single base substitution A T intron_variant PACA-AU 6 158286129 158286129 single base substitution G A intron_variant PACA-AU 6 158291051 158291051 single base substitution G A intron_variant PACA-AU 6 158291633 158291633 single base substitution C T intron_variant PACA-AU 6 158300126 158300126 single base substitution G A intron_variant PACA-AU 6 158301456 158301456 single base substitution C G intron_variant PACA-AU 6 158304619 158304619 single base substitution T C intron_variant PACA-AU 6 158308720 158308720 single base substitution A T intron_variant PACA-AU 6 158309855 158309855 single base substitution C T intron_variant PACA-AU 6 158310228 158310228 single base substitution G A intron_variant PACA-AU 6 158312671 158312671 single base substitution G A intron_variant PACA-AU 6 158322325 158322325 insertion of <=200bp - A intron_variant PACA-AU 6 158328116 158328116 single base substitution G A intron_variant PACA-AU 6 158336692 158336692 single base substitution C T intron_variant PACA-AU 6 158340499 158340499 single base substitution G A intron_variant PACA-AU 6 158340499 158340499 single base substitution G T intron_variant PACA-AU 6 158356625 158356625 single base substitution A G intron_variant PACA-AU 6 158361002 158361002 insertion of <=200bp - G intron_variant PACA-AU 6 158365161 158365161 single base substitution G A 3_prime_UTR_variant PACA-AU 6 158368142 158368142 single base substitution G C downstream_gene_variant PACA-CA 6 158240970 158240970 single base substitution T G upstream_gene_variant PACA-CA 6 158241491 158241491 single base substitution T C upstream_gene_variant PACA-CA 6 158248629 158248636 deletion of <=200bp TATATGAG - intron_variant PACA-CA 6 158257048 158257048 single base substitution C T intron_variant PACA-CA 6 158257134 158257134 single base substitution T C intron_variant PACA-CA 6 158261133 158261133 single base substitution G T intron_variant PACA-CA 6 158265632 158265632 single base substitution G T intron_variant PACA-CA 6 158272626 158272626 insertion of <=200bp - T intron_variant PACA-CA 6 158274833 158274833 single base substitution A C intron_variant PACA-CA 6 158275581 158275581 single base substitution C T intron_variant PACA-CA 6 158276001 158276001 single base substitution A C intron_variant PACA-CA 6 158278728 158278728 single base substitution G T intron_variant PACA-CA 6 158281060 158281060 single base substitution A T intron_variant PACA-CA 6 158282940 158282940 single base substitution A G intron_variant PACA-CA 6 158284892 158284892 deletion of <=200bp T - intron_variant PACA-CA 6 158286869 158286869 single base substitution G T intron_variant PACA-CA 6 158290427 158290427 single base substitution C T intron_variant PACA-CA 6 158292730 158292730 single base substitution A T intron_variant PACA-CA 6 158306066 158306066 single base substitution A G intron_variant PACA-CA 6 158308348 158308348 single base substitution G A intron_variant PACA-CA 6 158308497 158308497 single base substitution G A intron_variant PACA-CA 6 158309262 158309262 deletion of <=200bp T - intron_variant PACA-CA 6 158314613 158314613 deletion of <=200bp T - intron_variant PACA-CA 6 158316202 158316202 single base substitution T G intron_variant PACA-CA 6 158316765 158316765 single base substitution G T intron_variant PACA-CA 6 158316960 158316960 single base substitution T A intron_variant PACA-CA 6 158321480 158321480 single base substitution C G intron_variant PACA-CA 6 158328348 158328348 single base substitution C A intron_variant PACA-CA 6 158332362 158332362 single base substitution A T intron_variant PACA-CA 6 158334892 158334892 single base substitution G A intron_variant PACA-CA 6 158338911 158338911 single base substitution G A intron_variant PACA-CA 6 158345506 158345545 deletion of <=200bp TCATTATACTTCCAGAAAAATCTCAAAAGTATTGCAAGCA - intron_variant PACA-CA 6 158347285 158347285 single base substitution G A intron_variant PACA-CA 6 158347382 158347382 single base substitution G T intron_variant PACA-CA 6 158350586 158350586 single base substitution A T intron_variant PACA-CA 6 158358607 158358607 single base substitution A T intron_variant PACA-CA 6 158360769 158360769 single base substitution G A intron_variant PACA-CA 6 158363937 158363937 deletion of <=200bp T - 3_prime_UTR_variant PACA-CA 6 158364237 158364237 single base substitution A G 3_prime_UTR_variant PACA-CA 6 158364508 158364508 deletion of <=200bp A - 3_prime_UTR_variant PACA-CA 6 158370427 158370427 single base substitution A C downstream_gene_variant PAEN-AU 6 158253103 158253103 single base substitution G C intron_variant PAEN-AU 6 158261475 158261475 single base substitution T C intron_variant PAEN-AU 6 158289873 158289873 single base substitution G A intron_variant PAEN-IT 6 158329121 158329121 single base substitution C T intron_variant PAEN-IT 6 158330491 158330491 single base substitution G T intron_variant PBCA-DE 6 158242002 158242002 single base substitution C T upstream_gene_variant PBCA-DE 6 158246219 158246219 single base substitution G T intron_variant PBCA-DE 6 158247151 158247151 single base substitution T A intron_variant PBCA-DE 6 158248629 158248629 deletion of <=200bp T - intron_variant PBCA-DE 6 158261461 158261461 single base substitution T C intron_variant PBCA-DE 6 158264440 158264440 single base substitution G A intron_variant PBCA-DE 6 158273130 158273130 single base substitution C A intron_variant PBCA-DE 6 158287849 158287849 single base substitution C T intron_variant PBCA-DE 6 158302300 158302300 single base substitution G C intron_variant PBCA-DE 6 158313508 158313508 insertion of <=200bp - A intron_variant PBCA-DE 6 158314917 158314917 single base substitution G A intron_variant PBCA-DE 6 158329124 158329124 insertion of <=200bp - A intron_variant PBCA-DE 6 158332145 158332145 insertion of <=200bp - AAAT intron_variant PBCA-DE 6 158349251 158349251 single base substitution G A intron_variant PBCA-DE 6 158362508 158362510 deletion of <=200bp AAT - intron_variant PBCA-DE 6 158370546 158370546 single base substitution G A downstream_gene_variant PRAD-CA 6 158265632 158265632 single base substitution G T intron_variant PRAD-CA 6 158271934 158271934 single base substitution G A intron_variant PRAD-CA 6 158310919 158310919 single base substitution A C intron_variant PRAD-CA 6 158311694 158311694 single base substitution G A intron_variant PRAD-UK 6 158247674 158247674 single base substitution T A intron_variant PRAD-UK 6 158254546 158254546 single base substitution C A intron_variant PRAD-UK 6 158261423 158261423 single base substitution A T intron_variant PRAD-UK 6 158300111 158300111 single base substitution G C intron_variant PRAD-UK 6 158339272 158339272 single base substitution T A intron_variant PRAD-UK 6 158359191 158359191 single base substitution G A intron_variant PRAD-UK 6 158369661 158369661 single base substitution C T downstream_gene_variant READ-US 6 158288665 158288665 single base substitution G A splice_region_variant RECA-EU 6 158265020 158265020 single base substitution C T intron_variant RECA-EU 6 158265021 158265021 single base substitution C T intron_variant RECA-EU 6 158269609 158269609 single base substitution T A intron_variant RECA-EU 6 158287084 158287084 single base substitution T A intron_variant RECA-EU 6 158299991 158299991 single base substitution G T intron_variant RECA-EU 6 158301606 158301606 single base substitution T C intron_variant RECA-EU 6 158304513 158304513 single base substitution A C intron_variant RECA-EU 6 158305529 158305529 single base substitution A T intron_variant RECA-EU 6 158309993 158309993 single base substitution A G intron_variant RECA-EU 6 158314930 158314930 single base substitution T G intron_variant RECA-EU 6 158315715 158315715 single base substitution G C intron_variant RECA-EU 6 158325928 158325928 single base substitution A G intron_variant RECA-EU 6 158332029 158332029 single base substitution C T intron_variant RECA-EU 6 158349798 158349798 single base substitution C G intron_variant SKCA-BR 6 158243856 158243856 single base substitution T C upstream_gene_variant SKCA-BR 6 158244456 158244456 single base substitution A C 5_prime_UTR_variant SKCA-BR 6 158247487 158247487 single base substitution G T intron_variant SKCA-BR 6 158247534 158247535 deletion of <=200bp GA - intron_variant SKCA-BR 6 158247865 158247865 single base substitution T A intron_variant SKCA-BR 6 158247939 158247939 insertion of <=200bp - ATT intron_variant SKCA-BR 6 158248523 158248523 single base substitution T A intron_variant SKCA-BR 6 158249864 158249864 single base substitution T C intron_variant SKCA-BR 6 158255563 158255563 single base substitution C T intron_variant SKCA-BR 6 158256444 158256444 insertion of <=200bp - CT intron_variant SKCA-BR 6 158257140 158257148 deletion of <=200bp TTTTGTTTG - intron_variant SKCA-BR 6 158261480 158261484 deletion of <=200bp TTTCC - intron_variant SKCA-BR 6 158264896 158264896 single base substitution C T intron_variant SKCA-BR 6 158264904 158264904 single base substitution C T intron_variant SKCA-BR 6 158265286 158265286 single base substitution C T intron_variant SKCA-BR 6 158267108 158267108 single base substitution C T intron_variant SKCA-BR 6 158267109 158267109 single base substitution C T intron_variant SKCA-BR 6 158268074 158268074 insertion of <=200bp - CA intron_variant SKCA-BR 6 158272526 158272526 single base substitution C T intron_variant SKCA-BR 6 158274114 158274114 single base substitution T G intron_variant SKCA-BR 6 158275985 158275986 deletion of <=200bp TA - intron_variant SKCA-BR 6 158276764 158276767 deletion of <=200bp TTTG - intron_variant SKCA-BR 6 158285171 158285171 single base substitution G T intron_variant SKCA-BR 6 158285886 158285886 single base substitution C T intron_variant SKCA-BR 6 158286472 158286472 single base substitution T C intron_variant SKCA-BR 6 158288430 158288430 single base substitution A T intron_variant SKCA-BR 6 158288455 158288455 single base substitution C A intron_variant SKCA-BR 6 158292805 158292806 deletion of <=200bp CT - intron_variant SKCA-BR 6 158295124 158295124 single base substitution C T intron_variant SKCA-BR 6 158299462 158299462 insertion of <=200bp - CT intron_variant SKCA-BR 6 158301112 158301112 single base substitution T C intron_variant SKCA-BR 6 158301130 158301130 single base substitution A C intron_variant SKCA-BR 6 158302365 158302365 single base substitution A C intron_variant SKCA-BR 6 158306668 158306668 single base substitution G A intron_variant SKCA-BR 6 158308317 158308317 single base substitution G A intron_variant SKCA-BR 6 158311629 158311629 single base substitution C T intron_variant SKCA-BR 6 158312061 158312061 single base substitution T C intron_variant SKCA-BR 6 158314530 158314530 single base substitution C A intron_variant SKCA-BR 6 158314538 158314538 single base substitution A C intron_variant SKCA-BR 6 158314640 158314640 insertion of <=200bp - TTGTGTG intron_variant SKCA-BR 6 158315408 158315408 single base substitution G C intron_variant SKCA-BR 6 158318689 158318689 single base substitution A C intron_variant SKCA-BR 6 158324466 158324466 single base substitution C T intron_variant SKCA-BR 6 158326584 158326584 single base substitution A C intron_variant SKCA-BR 6 158326610 158326610 single base substitution G T intron_variant SKCA-BR 6 158329778 158329778 insertion of <=200bp - TAC intron_variant SKCA-BR 6 158332144 158332152 deletion of <=200bp CAAATAAAT - intron_variant SKCA-BR 6 158334139 158334139 single base substitution C T intron_variant SKCA-BR 6 158334457 158334457 insertion of <=200bp - CCTCAGCCTCCCAA intron_variant SKCA-BR 6 158334676 158334676 single base substitution C T intron_variant SKCA-BR 6 158336673 158336674 deletion of <=200bp AT - intron_variant SKCA-BR 6 158336676 158336676 single base substitution T A intron_variant SKCA-BR 6 158337432 158337432 single base substitution A C intron_variant SKCA-BR 6 158340686 158340686 single base substitution C T intron_variant SKCA-BR 6 158340687 158340687 single base substitution C T intron_variant SKCA-BR 6 158342895 158342895 single base substitution C T intron_variant SKCA-BR 6 158345081 158345081 single base substitution T A intron_variant SKCA-BR 6 158345297 158345297 single base substitution C T intron_variant SKCA-BR 6 158347812 158347814 deletion of <=200bp CAA - intron_variant SKCA-BR 6 158349945 158349945 single base substitution G A intron_variant SKCA-BR 6 158349946 158349946 single base substitution G A intron_variant SKCA-BR 6 158352262 158352262 single base substitution G A intron_variant SKCA-BR 6 158353593 158353593 single base substitution T C intron_variant SKCA-BR 6 158354124 158354124 single base substitution A T intron_variant SKCA-BR 6 158356789 158356789 single base substitution C T intron_variant SKCA-BR 6 158357517 158357517 single base substitution G A intron_variant SKCA-BR 6 158359813 158359814 deletion of <=200bp GA - intron_variant SKCA-BR 6 158359815 158359815 single base substitution A G intron_variant SKCA-BR 6 158359816 158359817 deletion of <=200bp GT - intron_variant SKCA-BR 6 158359817 158359817 single base substitution T G intron_variant SKCA-BR 6 158362358 158362358 single base substitution C T intron_variant SKCA-BR 6 158362686 158362686 single base substitution G T intron_variant SKCA-BR 6 158363528 158363528 single base substitution C T intron_variant SKCA-BR 6 158366518 158366518 single base substitution G A downstream_gene_variant SKCA-BR 6 158367267 158367267 single base substitution C T downstream_gene_variant SKCA-BR 6 158370414 158370415 deletion of <=200bp TA - downstream_gene_variant SKCA-BR 6 158370529 158370529 single base substitution C T downstream_gene_variant SKCM-US 6 158288663 158288663 single base substitution C T missense_variant P33S 97C>T SKCM-US 6 158294154 158294154 single base substitution G A synonymous_variant L40L 120G>A SKCM-US 6 158294191 158294191 single base substitution C T missense_variant P53S 157C>T SKCM-US 6 158296089 158296089 single base substitution C T missense_variant P61S 181C>T SKCM-US 6 158296126 158296126 single base substitution C T missense_variant S73L 218C>T SKCM-US 6 158317991 158317991 single base substitution G A missense_variant D145N 433G>A SKCM-US 6 158318009 158318009 single base substitution C T missense_variant P151S 451C>T SKCM-US 6 158342637 158342637 single base substitution C T missense_variant P342S 1024C>T SKCM-US 6 158349733 158349733 single base substitution C T splice_region_variant SKCM-US 6 158353276 158353276 single base substitution C T synonymous_variant A446A 1338C>T STAD-US 6 158296134 158296134 single base substitution G A missense_variant D76N 226G>A STAD-US 6 158296187 158296187 single base substitution G A synonymous_variant S93S 279G>A STAD-US 6 158330785 158330785 single base substitution G A missense_variant G265D 794G>A STAD-US 6 158330999 158330999 single base substitution C T synonymous_variant L297L 891C>T STAD-US 6 158342683 158342683 single base substitution G T missense_variant R357L 1070G>T STAD-US 6 158349639 158349639 single base substitution A C missense_variant K398T 1193A>C STAD-US 6 158349643 158349643 single base substitution C T synonymous_variant C399C 1197C>T THCA-US 6 158342658 158342658 single base substitution G A missense_variant V349I 1045G>A UCEC-US 6 158296104 158296104 single base substitution G T missense_variant D66Y 196G>T UCEC-US 6 158323016 158323016 single base substitution G T missense_variant G187C 559G>T UCEC-US 6 158327225 158327225 single base substitution A G missense_variant K229R 686A>G UCEC-US 6 158330949 158330949 single base substitution C T stop_gained R281* 841C>T UCEC-US 6 158330950 158330950 single base substitution G A missense_variant R281Q 842G>A UCEC-US 6 158359775 158359775 single base substitution G A synonymous_variant L548L 1644G>A UCEC-US 6 158362005 158362005 single base substitution C T missense_variant T580M 1739C>T

Mutation - COSMIC Sample Name Mutation ID Mutation CDS Mutation AA Mutation Description Mutation Genome Position Mutation Strand TCGA-06-0939 COSM2152444 c.1432G>T p.V478L Substitution - Missense 6:157936029-157936029 + TCGA-D3-A5GS-06 COSM3622311 c.120G>A p.L40L Substitution - coding silent 6:157873122-157873122 + TCGA-06-0745-01 COSM2151705 c.960A>T p.E320D Substitution - Missense 6:157921541-157921541 + TCGA-BP-4176-01 COSM1075384 c.886C>T p.R296C Substitution - Missense 6:157909962-157909962 + TCGA-BS-A0UV-01 COSM1075379 c.559G>T p.G187C Substitution - Missense 6:157901984-157901984 + CSCC-11-T COSM4525144 c.1311G>C p.K437N Substitution - Missense 6:157932217-157932217 + TCGA-FD-A3B3-01 COSM1311752 c.275C>T p.S92L Substitution - Missense 6:157875151-157875151 + TCGA-D9-A6EC-06 COSM4405739 c.433G>A p.D145N Substitution - Missense 6:157896959-157896959 + HCT15 COSM3022569 c.290A>C p.N97T Substitution - Missense 6:157875166-157875166 + TCGA-AN-A046-01 COSM3829530 c.28G>A p.D10N Substitution - Missense 6:157867562-157867562 + CHC1601T COSM4805130 c.13G>T p.A5S Substitution - Missense 6:157867547-157867547 + TCGA-BR-4363-01 COSM3860018 c.1193A>C p.K398T Substitution - Missense 6:157928607-157928607 + TCGA-AC-A23H-01 COSM3829532 c.1597G>C p.D533H Substitution - Missense 6:157938696-157938696 + 74 COSM4778270 c.733T>C p.Y245H Substitution - Missense 6:157909692-157909692 + sysucc-810T COSM5453386 c.854A>G p.H285R Substitution - Missense 6:157909930-157909930 + TCGA-DI-A0WH-01 COSM1075385 c.942A>G p.Q314Q Substitution - coding silent 6:157910018-157910018 + HCC24 COSM1621142 c.949+4A>G p.? Unknown 6:157910029-157910029 + LUAD-B02477 COSM335919 c.1710_1711CC>AA p.Y570>? Complex 6:157940944-157940945 + WSU-HN6 COSM4602019 c.1382A>G p.N461S Substitution - Missense 6:157935979-157935979 + HCC2998 COSM1672939 c.38C>T p.A13V Substitution - Missense 6:157867572-157867572 + TCGA-F1-A448-01 COSM3860014 c.279G>A p.S93S Substitution - coding silent 6:157875155-157875155 + TARGET-30-PASWIJ COSM1288122 c.349G>T p.G117W Substitution - Missense 6:157896875-157896875 + TCGA-A2-A0T5-01 COSM3829531 c.1256T>G p.V419G Substitution - Missense 6:157928670-157928670 + CHC892T COSM4958866 c.377G>A p.G126E Substitution - Missense 6:157896903-157896903 + BK0003 COSM4185471 c.1369G>A p.E457K Substitution - Missense 6:157935966-157935966 + 21T COSM3715359 c.1140T>G p.F380L Substitution - Missense 6:157927170-157927170 + TCGA-DI-A0WH-01 COSM1075383 c.856A>G p.R286G Substitution - Missense 6:157909932-157909932 + TCGA-BR-4184-01 COSM3860015 c.794G>A p.G265D Substitution - Missense 6:157909753-157909753 + SNUH_G57_S1 COSM3684021 c.1588A>C p.T530P Substitution - Missense 6:157938687-157938687 + Pat_36_B COSM5869658 c.961G>C p.E321Q Substitution - Missense 6:157921542-157921542 + TCGA-18-3416-01 COSM740267 c.636G>A p.A212A Substitution - coding silent 6:157906143-157906143 + TCGA-70-6722-01 COSM740268 c.447C>A p.G149G Substitution - coding silent 6:157896973-157896973 + TCGA-AM-5821-01 COSM3761621 c.774G>A p.R258R Substitution - coding silent 6:157909733-157909733 + TCGA-06-0745 COSM2151705 c.960A>T p.E320D Substitution - Missense 6:157921541-157921541 + TCGA-BR-6802-01 COSM3860019 c.1197C>T p.C399C Substitution - coding silent 6:157928611-157928611 + YULONE COSM5404713 c.452C>T p.P151L Substitution - Missense 6:157896978-157896978 + TCGA-06-0192 COSM2150670 c.908C>T p.S303L Substitution - Missense 6:157909984-157909984 + I2L-P19Tb-Tumor-Organoid COSM5357424 c.393G>T p.G131G Substitution - coding silent 6:157896919-157896919 + TCGA-CD-8529-01 COSM3860016 c.891C>T p.L297L Substitution - coding silent 6:157909967-157909967 + CSCC-1-T COSM4455966 c.973A>G p.K325E Substitution - Missense 6:157921554-157921554 + TCGA-AP-A0LM-01 COSM1075381 c.841C>T p.R281* Substitution - Nonsense 6:157909917-157909917 + PGBM11PT COSM1580146 c.509A>C p.D170A Substitution - Missense 6:157901934-157901934 + TCGA-FS-A1ZK-06 COSM3622316 c.1024C>T p.P342S Substitution - Missense 6:157921605-157921605 + HX28T COSM1621142 c.949+4A>G p.? Unknown 6:157910029-157910029 + TCGA-EI-6883-01 COSM3430297 c.99G>A p.P33P Substitution - coding silent 6:157867633-157867633 + TCGA-AX-A0J1-01 COSM1075387 c.1739C>T p.T580M Substitution - Missense 6:157940973-157940973 + TCGA-EK-A2RC-01 COSM4848438 c.28G>C p.D10H Substitution - Missense 6:157867562-157867562 + HCC24T COSM1621142 c.949+4A>G p.? Unknown 6:157910029-157910029 + BD124T COSM5492164 c.300+4C>T p.? Unknown 6:157875180-157875180 + E18 COSM1666451 c.169G>A p.V57I Substitution - Missense 6:157873171-157873171 + SNUH_G45_S1 COSM4003768 c.150G>C p.G50G Substitution - coding silent 6:157873152-157873152 + TCGA-AX-A0J1-01 COSM1075386 c.1644G>A p.L548L Substitution - coding silent 6:157938743-157938743 + STC297 COSM3022594 c.1390A>G p.I464V Substitution - Missense 6:157935987-157935987 + LUAD-S01409 COSM346833 c.1001G>C p.W334S Substitution - Missense 6:157921582-157921582 + TCGA-37-4141-01 COSM740266 c.1285G>T p.G429C Substitution - Missense 6:157928699-157928699 + LAU165 COSM235418 c.1464C>T p.F488F Substitution - coding silent 6:157937454-157937454 + B80-3-Tumor COSM1754621 c.751G>C p.D251H Substitution - Missense 6:157909710-157909710 + SNUH_G45_S1 COSM3761621 c.774G>A p.R258R Substitution - coding silent 6:157909733-157909733 + TCGA-EB-A44O-01 COSM3622312 c.157C>T p.P53S Substitution - Missense 6:157873159-157873159 + TCGA-66-2771-01 COSM740264 c.1467G>C p.L489L Substitution - coding silent 6:157937457-157937457 + HCC2998 COSM1672939 c.38C>T p.A13V Substitution - Missense 6:157867572-157867572 + I2L-P19Tb-Tumor-Biopsy COSM5357424 c.393G>T p.G131G Substitution - coding silent 6:157896919-157896919 + MD-320 COSM303267 c.483T>C p.D161D Substitution - coding silent 6:157901908-157901908 + 2530678 COSM5885656 c.553G>A p.D185N Substitution - Missense 6:157901978-157901978 + NCI-H727 COSM3022573 c.579C>A p.N193K Substitution - Missense 6:157902004-157902004 + OSCC-GB_00210111 COSM3715359 c.1140T>G p.F380L Substitution - Missense 6:157927170-157927170 + S02246 COSM5679159 c.779G>T p.G260V Substitution - Missense 6:157909738-157909738 + TCGA-B5-A11E-01 COSM1075382 c.842G>A p.R281Q Substitution - Missense 6:157909918-157909918 + TCGA-E7-A3X6-01 COSM3777272 c.759G>C p.V253V Substitution - coding silent 6:157909718-157909718 + CSCC-31-T COSM4449147 c.1740+1G>A p.? Unknown 6:157940975-157940975 + TCGA-06-0939-01 COSM2152444 c.1432G>T p.V478L Substitution - Missense 6:157936029-157936029 + TCGA-06-0192-01 COSM2150670 c.908C>T p.S303L Substitution - Missense 6:157909984-157909984 + TCGA-CD-A4MG-01 COSM3860017 c.1070G>T p.R357L Substitution - Missense 6:157921651-157921651 + TCGA-ET-A40S-01 COSM3374121 c.1045G>A p.V349I Substitution - Missense 6:157921626-157921626 + TCGA-A4-A48D-01 COSM3994704 c.831T>G p.T277T Substitution - coding silent 6:157909790-157909790 + S02328 COSM5692172 c.700A>G p.I234V Substitution - Missense 6:157906207-157906207 + RKO COSM3022592 c.1365A>G p.Q455Q Substitution - coding silent 6:157932271-157932271 + TCGA-B1-A655-01 COSM4414829 c.1464C>A p.F488L Substitution - Missense 6:157937454-157937454 + CHC1601T COSM4805130 c.13G>T p.A5S Substitution - Missense 6:157867547-157867547 + TCGA-EE-A2GL-06 COSM3622317 c.1287C>T p.G429G Substitution - coding silent 6:157928701-157928701 + CHC892T COSM4958866 c.377G>A p.G126E Substitution - Missense 6:157896903-157896903 + TCGA-A4-7997-01 COSM3994703 c.17G>A p.R6Q Substitution - Missense 6:157867551-157867551 + ESO-805 COSM1266403 c.507G>A p.W169* Substitution - Nonsense 6:157901932-157901932 + RK183_C01 COSM3745030 c.1766T>G p.L589R Substitution - Missense 6:157942816-157942816 + TCGA-CJ-5684-01 COSM483613 c.929T>C p.L310P Substitution - Missense 6:157910005-157910005 + TCGA-B5-A11E-01 COSM1075380 c.686A>G p.K229R Substitution - Missense 6:157906193-157906193 + LC_S19 COSM1187201 c.1237G>T p.V413L Substitution - Missense 6:157928651-157928651 + TCGA-EE-A29E-06 COSM3622310 c.97C>T p.P33S Substitution - Missense 6:157867631-157867631 + AOCS-055-1-7 COSM4149233 c.13-5G>C p.? Unknown 6:157867542-157867542 + TCGA-D1-A0ZS-01 COSM1075384 c.886C>T p.R296C Substitution - Missense 6:157909962-157909962 + PT14_1 COSM3022582 c.917C>T p.P306L Substitution - Missense 6:157909993-157909993 + S02328 COSM5692173 c.1373C>T p.T458I Substitution - Missense 6:157935970-157935970 + TCGA-EB-A3Y7-01 COSM3622314 c.218C>T p.S73L Substitution - Missense 6:157875094-157875094 + HN_62926 COSM121922 c.741C>T p.T247T Substitution - coding silent 6:157909700-157909700 + 46M COSM5589003 c.1704C>T p.R568R Substitution - coding silent 6:157940938-157940938 + CSCC-27-T COSM4563668 c.984G>A p.M328I Substitution - Missense 6:157921565-157921565 + TCGA-PD-A5DF-01 COSM4909816 c.278C>T p.S93L Substitution - Missense 6:157875154-157875154 + TCGA-66-2754-01 COSM740265 c.1434G>T p.V478V Substitution - coding silent 6:157936031-157936031 + CSCC-31-T COSM4448579 c.1080+1G>A p.? Unknown 6:157921662-157921662 + LUAD-F00018 COSM339196 c.271A>T p.S91C Substitution - Missense 6:157875147-157875147 + TCGA-D3-A3C1-06 COSM3622318 c.1338C>T p.A446A Substitution - coding silent 6:157932244-157932244 + TCGA-DA-A1HV-06 COSM3622315 c.451C>T p.P151S Substitution - Missense 6:157896977-157896977 + TCGA-GN-A266-06 COSM3622313 c.181C>T p.P61S Substitution - Missense 6:157875057-157875057 + TCGA-D1-A16X-01 COSM1075378 c.196G>T p.D66Y Substitution - Missense 6:157875072-157875072 + TCGA-AA-3663-01 COSM1441843 c.543_544delAG p.E182fs*3 Deletion - Frameshift 6:157901968-157901969 + LUAD-F00089 COSM339872 c.1307A>T p.Q436L Substitution - Missense 6:157932213-157932213 + PD13618a COSM5798447 c.596C>T p.S199L Substitution - Missense 6:157902021-157902021 + TCGA-CG-5727-01 COSM3860013 c.226G>A p.D76N Substitution - Missense 6:157875102-157875102 + 364 COSM3723668 c.1300G>T p.E434* Substitution - Nonsense 6:157932206-157932206 + ATL050 COSM5709937 c.1732_1733insACGAA p.I581fs*7 Insertion - Frameshift 6:157940966-157940967 + LUAD-NYU508 COSM374828 c.622T>C p.F208L Substitution - Missense 6:157906129-157906129 + CN-AML-CR-63-Dx COSM4003768 c.150G>C p.G50G Substitution - coding silent 6:157873152-157873152 + B80-3 COSM1754621 c.751G>C p.D251H Substitution - Missense 6:157909710-157909710 + CHC433T COSM4406835 c.1253C>T p.T418M Substitution - Missense 6:157928667-157928667 + 364 COSM3723667 c.1299G>T p.K433N Substitution - Missense 6:157932205-157932205 +

Mutation - CGAP UNIGENE CYTOBAND OMIM SNP Hs.191213 6q25.1-q26 605952

Mutation - IntOGen Mutated from(ref) Mutated to(alt) Consequence Type AA Mutation CDS Mutation Chr Pos Cancer A C Missense p.K398T c.1193A>C 6 158349639 STAD A G Missense p.N280S c.839A>G 6 158330947 HNSC A - IntronicDeletion . c.301-1191delA 6 158316658 CM ATATT - IntronicDeletion . c.12+3397_12+3401delATATT 6 158247870 CLL A T Missense p.E320D c.960A>T 6 158342573 GBM A T Missense p.K325I c.974A>T 6 158342587 CM C A IntronicSNV . c.1367-1728C>A 6 158355268 HC C A Synonymous p.G149G c.447C>A 6 158318005 LUSC C T 3-UTRSNV . c.1785+36C>T 6 158363903 CM C T IntronicSNV . c.175-8C>T 6 158296075 CM C T Missense p.P151S c.451C>T 6 158318009 CM C T Missense p.P342S c.1024C>T 6 158342637 CM C T Missense p.R296C c.886C>T 6 158330994 RCCC C T Missense p.S303L c.908C>T 6 158331016 GBM C T Missense p.S92L c.275C>T 6 158296183 BLCA C T Synonymous p.A446A c.1338C>T 6 158353276 CM C T Synonymous p.C399C c.1197C>T 6 158349643 STAD C T Synonymous p.G429G c.1287C>T 6 158349733 CM C T Synonymous p.T247T c.741C>T 6 158330732 HNSC G A Missense p.D76N c.226G>A 6 158296134 STAD G A Nonsense p.W169* c.507G>A 6 158322964 ESCA G A Synonymous p.A212A c.636G>A 6 158327175 LUSC G A Synonymous p.L548L c.1644G>A 6 158359775 HNSC G C Missense p.A127P c.379G>C 6 158317937 LUAD G C Synonymous p.L489L c.1467G>C 6 158358489 LUSC GTGGTTTTTTTTTTTTTTTTT - IntronicDeletion . c.12+10701_12+10721delGTGGTTTTTTTTTTTTTTTTT 6 158255179 CLL G T Missense p.G117W c.349G>T 6 158317907 NB G T Missense p.G429C c.1285G>T 6 158349731 LUSC G T Missense p.Q587H c.1761G>T 6 158363843 LUAD G T Missense p.V478L c.1432G>T 6 158357061 GBM G T Nonsense p.E348* c.1042G>T 6 158342655 LUAD G T Synonymous p.V478V c.1434G>T 6 158357063 LUSC T C IntronicSNV . c.1081-1560T>C 6 158346583 CLL T C IntronicSNV . c.12+3417T>C 6 158247895 CLL