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 9 129642194 129642194 + Silent SNP C C T TCGA-PK-A5HB-01A-11D-A29I-10 TCGA-PK-A5HB-11A-11D-A29L-10 g.chr9:129642194C>T c.504C>T c.(502-504)tgC>tgT p.C168C BLCA 9 129642198 129642198 + Missense_Mutation SNP C C G TCGA-GV-A3JX-01A-11D-A20D-08 TCGA-GV-A3JX-10A-01D-A20D-08 g.chr9:129642198C>G c.508C>G c.(508-510)Cag>Gag p.Q170E BLCA 9 129642324 129642324 + Missense_Mutation SNP G G C TCGA-GV-A3JX-01A-11D-A20D-08 TCGA-GV-A3JX-10A-01D-A20D-08 g.chr9:129642324G>C c.634G>C c.(634-636)Gag>Cag p.E212Q BLCA 9 129642680 129642680 + Silent SNP G G A TCGA-XF-A9T0-01A-11D-A391-08 TCGA-XF-A9T0-10A-01D-A394-08 g.chr9:129642680G>A c.990G>A c.(988-990)ctG>ctA p.L330L BLCA 9 129643161 129643161 + Missense_Mutation SNP G G A TCGA-4Z-AA84-01A-11D-A391-08 TCGA-4Z-AA84-10A-01D-A394-08 g.chr9:129643161G>A c.1471G>A c.(1471-1473)Gaa>Aaa p.E491K CESC 9 129642988 129642988 + Missense_Mutation SNP G G T TCGA-Q1-A73R-01A-11D-A33O-09 TCGA-Q1-A73R-10B-01D-A33O-09 g.chr9:129642988G>T c.1298G>T c.(1297-1299)tGc>tTc p.C433F COAD 9 129642136 129642136 + Missense_Mutation SNP A A G TCGA-F4-6569-01A-11D-1771-10 TCGA-F4-6569-10A-01D-1771-10 g.chr9:129642136A>G c.446A>G c.(445-447)aAc>aGc p.N149S COAD 9 129643017 129643017 + Missense_Mutation SNP C C A TCGA-AA-A01R-01A-21W-A096-10 TCGA-AA-A01R-11A-12W-A096-10 g.chr9:129643017C>A c.1327C>A c.(1327-1329)Ctc>Atc p.L443I COADREAD 9 129642136 129642136 + Missense_Mutation SNP A A G TCGA-F4-6569-01A-11D-1771-10 TCGA-F4-6569-10A-01D-1771-10 g.chr9:129642136A>G c.446A>G c.(445-447)aAc>aGc p.N149S COADREAD 9 129642585 129642585 + Missense_Mutation SNP T T G TCGA-AG-A002-01A-01W-A00K-09 TCGA-AG-A002-10A-01W-A00K-09 g.chr9:129642585T>G c.895T>G c.(895-897)Ttt>Gtt p.F299V COADREAD 9 129643017 129643017 + Missense_Mutation SNP C C A TCGA-AA-A01R-01A-21W-A096-10 TCGA-AA-A01R-11A-12W-A096-10 g.chr9:129643017C>A c.1327C>A c.(1327-1329)Ctc>Atc p.L443I GBM 9 129643102 129643102 + Missense_Mutation SNP T T G TCGA-32-4210-01A-01D-1353-08 TCGA-32-4210-10A-01D-1353-08 g.chr9:129643102T>G c.1412T>G c.(1411-1413)gTg>gGg p.V471G GBMLGG 9 129642336 129642336 + Missense_Mutation SNP G G A TCGA-S9-A7QZ-01A-12D-A34J-08 TCGA-S9-A7QZ-10A-01D-A34M-08 g.chr9:129642336G>A c.646G>A c.(646-648)Gag>Aag p.E216K GBMLGG 9 129643102 129643102 + Missense_Mutation SNP T T G TCGA-32-4210-01A-01D-1353-08 TCGA-32-4210-10A-01D-1353-08 g.chr9:129643102T>G c.1412T>G c.(1411-1413)gTg>gGg p.V471G GBMLGG 9 129643140 129643140 + Missense_Mutation SNP A A G TCGA-DU-6392-01A-11D-1705-08 TCGA-DU-6392-10A-01D-1705-08 g.chr9:129643140A>G c.1450A>G c.(1450-1452)Atg>Gtg p.M484V HNSC 9 129641824 129641824 + Missense_Mutation SNP C C A TCGA-MZ-A7D7-01A-21D-A34J-08 TCGA-MZ-A7D7-10A-01D-A34M-08 g.chr9:129641824C>A c.134C>A c.(133-135)gCc>gAc p.A45D HNSC 9 129642399 129642399 + Missense_Mutation SNP A A C TCGA-BB-4217-01A-11D-2078-08 TCGA-BB-4217-10A-01D-2078-08 g.chr9:129642399A>C c.709A>C c.(709-711)Aag>Cag p.K237Q KICH 9 129641862 129641862 + Missense_Mutation SNP C C T TCGA-KN-8428-01A-11D-2310-10 TCGA-KN-8428-11A-01D-2311-10 g.chr9:129641862C>T c.172C>T c.(172-174)Cgg>Tgg p.R58W KICH 9 129642226 129642226 + Missense_Mutation SNP A A G TCGA-KN-8419-01A-11D-2310-10 TCGA-KN-8419-11A-01D-2310-10 g.chr9:129642226A>G c.536A>G c.(535-537)gAc>gGc p.D179G KICH 9 129642636 129642636 + Nonsense_Mutation SNP C C T TCGA-KN-8428-01A-11D-2310-10 TCGA-KN-8428-11A-01D-2311-10 g.chr9:129642636C>T c.946C>T c.(946-948)Cga>Tga p.R316* KIPAN 9 129641862 129641862 + Missense_Mutation SNP C C T TCGA-KN-8428-01A-11D-2310-10 TCGA-KN-8428-11A-01D-2311-10 g.chr9:129641862C>T c.172C>T c.(172-174)Cgg>Tgg p.R58W KIPAN 9 129642226 129642226 + Missense_Mutation SNP A A G TCGA-KN-8419-01A-11D-2310-10 TCGA-KN-8419-11A-01D-2310-10 g.chr9:129642226A>G c.536A>G c.(535-537)gAc>gGc p.D179G KIPAN 9 129642636 129642636 + Nonsense_Mutation SNP C C T TCGA-KN-8428-01A-11D-2310-10 TCGA-KN-8428-11A-01D-2311-10 g.chr9:129642636C>T c.946C>T c.(946-948)Cga>Tga p.R316* LGG 9 129642336 129642336 + Missense_Mutation SNP G G A TCGA-S9-A7QZ-01A-12D-A34J-08 TCGA-S9-A7QZ-10A-01D-A34M-08 g.chr9:129642336G>A c.646G>A c.(646-648)Gag>Aag p.E216K LGG 9 129643140 129643140 + Missense_Mutation SNP A A G TCGA-DU-6392-01A-11D-1705-08 TCGA-DU-6392-10A-01D-1705-08 g.chr9:129643140A>G c.1450A>G c.(1450-1452)Atg>Gtg p.M484V LUAD 9 129641787 129641787 + Missense_Mutation SNP G G C TCGA-17-Z022-01A-01W-0746-08 TCGA-17-Z022-11A-01W-0746-08 g.chr9:129641787G>C c.97G>C c.(97-99)Gac>Cac p.D33H LUAD 9 129641821 129641821 + Missense_Mutation SNP G G A TCGA-78-8662-01A-11D-2393-08 TCGA-78-8662-10A-01D-2393-08 g.chr9:129641821G>A c.131G>A c.(130-132)cGa>cAa p.R44Q LUAD 9 129642150 129642150 + Missense_Mutation SNP A A T TCGA-69-7979-01A-11D-2184-08 TCGA-69-7979-10A-01D-2184-08 g.chr9:129642150A>T c.460A>T c.(460-462)Agc>Tgc p.S154C LUAD 9 129642401 129642401 + Missense_Mutation SNP G G C TCGA-05-4389-01A-01D-1265-08 TCGA-05-4389-10A-01D-1265-08 g.chr9:129642401G>C c.711G>C c.(709-711)aaG>aaC p.K237N LUAD 9 129642655 129642655 + Missense_Mutation SNP A A G TCGA-55-7903-01A-11D-2167-08 TCGA-55-7903-10A-01D-2167-08 g.chr9:129642655A>G c.965A>G c.(964-966)cAg>cGg p.Q322R LUSC 9 129642902 129642902 + Silent SNP C C T TCGA-60-2709-01A-21D-1817-08 TCGA-60-2709-11A-01D-1817-08 g.chr9:129642902C>T c.1212C>T c.(1210-1212)ttC>ttT p.F404F OV 9 129642137 129642137 + Missense_Mutation SNP C C A TCGA-13-0891-01A-01W-0420-08 TCGA-13-0891-10A-01D-0399-08 g.chr9:129642137C>A c.447C>A c.(445-447)aaC>aaA p.N149K PAAD 9 129642452 129642452 + Silent SNP C C T TCGA-IB-7651-01A-11D-2154-08 TCGA-IB-7651-10A-01D-2154-08 g.chr9:129642452C>T c.762C>T c.(760-762)gaC>gaT p.D254D PRAD 9 129641861 129641861 + Missense_Mutation SNP C C G TCGA-KK-A8IB-01A-11D-A364-08 TCGA-KK-A8IB-11A-11D-A362-08 g.chr9:129641861C>G c.171C>G c.(169-171)ttC>ttG p.F57L PRAD 9 129642273 129642273 + Nonsense_Mutation SNP C C T TCGA-EJ-5504-01A-01D-1576-08 TCGA-EJ-5504-10A-01D-1577-08 g.chr9:129642273C>T c.583C>T c.(583-585)Cag>Tag p.Q195* READ 9 129642585 129642585 + Missense_Mutation SNP T T G TCGA-AG-A002-01A-01W-A00K-09 TCGA-AG-A002-10A-01W-A00K-09 g.chr9:129642585T>G c.895T>G c.(895-897)Ttt>Gtt p.F299V SKCM 9 129641745 129641745 + Silent SNP C C T TCGA-FW-A3R5-06A-11D-A23B-08 TCGA-FW-A3R5-10A-01D-A23B-08 g.chr9:129641745C>T c.55C>T c.(55-57)Ctg>Ttg p.L19L SKCM 9 129641834 129641834 + Silent SNP A A G TCGA-EE-A29E-06A-11D-A197-08 TCGA-EE-A29E-10A-01D-A199-08 g.chr9:129641834A>G c.144A>G c.(142-144)gcA>gcG p.A48A SKCM 9 129641854 129641854 + Missense_Mutation SNP C C T TCGA-EE-A29R-06A-11D-A197-08 TCGA-EE-A29R-10A-01D-A199-08 g.chr9:129641854C>T c.164C>T c.(163-165)cCa>cTa p.P55L SKCM 9 129642196 129642196 + Missense_Mutation SNP C C T TCGA-FW-A3R5-06A-11D-A23B-08 TCGA-FW-A3R5-10A-01D-A23B-08 g.chr9:129642196C>T c.506C>T c.(505-507)tCt>tTt p.S169F SKCM 9 129642466 129642466 + Missense_Mutation SNP C C T TCGA-D9-A6EC-06A-11D-A30X-08 TCGA-D9-A6EC-10A-01D-A30X-08 g.chr9:129642466C>T c.776C>T c.(775-777)aCc>aTc p.T259I SKCM 9 129642541 129642541 + Frame_Shift_Del DEL C C - TCGA-D9-A1JW-06A-11D-A19A-08 TCGA-D9-A1JW-10A-01D-A19A-08 g.chr9:129642541delC c.851delC c.(850-852)tccfs p.S284fs SKCM 9 129642549 129642549 + Nonsense_Mutation SNP C C T TCGA-D9-A6EA-06A-11D-A30X-08 TCGA-D9-A6EA-10A-01D-A30X-08 g.chr9:129642549C>T c.859C>T c.(859-861)Caa>Taa p.Q287* SKCM 9 129642869 129642869 + Silent SNP C C T TCGA-EE-A29B-06A-11D-A197-08 TCGA-EE-A29B-10A-01D-A199-08 g.chr9:129642869C>T c.1179C>T c.(1177-1179)ctC>ctT p.L393L SKCM 9 129643003 129643003 + Missense_Mutation SNP C C T TCGA-EE-A2A2-06A-11D-A196-08 TCGA-EE-A2A2-10A-01D-A198-08 g.chr9:129643003C>T c.1313C>T c.(1312-1314)cCa>cTa p.P438L SKCM 9 129643035 129643035 + Missense_Mutation SNP A A G TCGA-DA-A1IC-06A-11D-A197-08 TCGA-DA-A1IC-10A-01D-A199-08 g.chr9:129643035A>G c.1345A>G c.(1345-1347)Aaa>Gaa p.K449E

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 9 129642107 129642107 single base substitution C T synonymous_variant V139V 417C>T BLCA-CN 9 129642107 129642107 single base substitution C T synonymous_variant V143V 429C>T BLCA-US 9 129642198 129642198 single base substitution C G missense_variant Q170E 508C>G BLCA-US 9 129642198 129642198 single base substitution C G missense_variant Q174E 520C>G BLCA-US 9 129642324 129642324 single base substitution G C missense_variant E212Q 634G>C BLCA-US 9 129642324 129642324 single base substitution G C missense_variant E216Q 646G>C BOCA-FR 9 129619612 129619612 single base substitution C T upstream_gene_variant BRCA-EU 9 129618855 129618855 single base substitution G A upstream_gene_variant BRCA-EU 9 129620132 129620132 single base substitution C T upstream_gene_variant BRCA-EU 9 129620392 129620392 single base substitution C A upstream_gene_variant BRCA-EU 9 129620918 129620918 single base substitution C G upstream_gene_variant BRCA-EU 9 129621756 129621756 single base substitution C T upstream_gene_variant BRCA-EU 9 129622544 129622544 single base substitution G T upstream_gene_variant BRCA-EU 9 129623014 129623014 single base substitution G C 5_prime_UTR_variant BRCA-EU 9 129623523 129623523 single base substitution G T intron_variant BRCA-EU 9 129624156 129624156 deletion of <=200bp T - intron_variant BRCA-EU 9 129624512 129624512 single base substitution T C intron_variant BRCA-EU 9 129625351 129625351 single base substitution G C intron_variant BRCA-EU 9 129626480 129626480 single base substitution C T intron_variant BRCA-EU 9 129628401 129628404 deletion of <=200bp TCTT - intron_variant BRCA-EU 9 129628560 129628560 single base substitution T C intron_variant BRCA-EU 9 129629244 129629244 single base substitution A G intron_variant BRCA-EU 9 129629780 129629780 insertion of <=200bp - T intron_variant BRCA-EU 9 129629931 129629955 deletion of <=200bp TTGTCGAATGTATTTGTCTTTGCCT - intron_variant BRCA-EU 9 129630341 129630341 single base substitution C A intron_variant BRCA-EU 9 129630370 129630370 single base substitution A T intron_variant BRCA-EU 9 129630705 129630705 single base substitution G C intron_variant BRCA-EU 9 129632054 129632054 single base substitution A G intron_variant BRCA-EU 9 129632056 129632056 single base substitution T A intron_variant BRCA-EU 9 129632223 129632264 multiple base substitution (>=2bp and <=200bp) TTTTTCCAGAGTATAGTTTTTATAAACAAAAACAGAATTTTT TCACATTCTTTTTCCAGAGTATA intron_variant BRCA-EU 9 129632301 129632301 single base substitution T G intron_variant BRCA-EU 9 129632362 129632362 insertion of <=200bp - TTT intron_variant BRCA-EU 9 129632535 129632535 deletion of <=200bp A - intron_variant BRCA-EU 9 129634216 129634216 single base substitution G C intron_variant BRCA-EU 9 129634830 129634830 single base substitution C T intron_variant BRCA-EU 9 129635573 129635573 single base substitution C G intron_variant BRCA-EU 9 129635894 129635894 single base substitution C G intron_variant BRCA-EU 9 129636746 129636746 single base substitution C A intron_variant BRCA-EU 9 129636746 129636746 single base substitution C A upstream_gene_variant BRCA-EU 9 129637084 129637084 single base substitution C G intron_variant BRCA-EU 9 129637084 129637084 single base substitution C G upstream_gene_variant BRCA-EU 9 129638043 129638043 deletion of <=200bp T - intron_variant BRCA-EU 9 129638043 129638043 deletion of <=200bp T - upstream_gene_variant BRCA-EU 9 129638858 129638858 single base substitution G A intron_variant BRCA-EU 9 129638858 129638858 single base substitution G A upstream_gene_variant BRCA-EU 9 129638926 129638926 single base substitution T C intron_variant BRCA-EU 9 129638926 129638926 single base substitution T C upstream_gene_variant BRCA-EU 9 129639626 129639626 single base substitution C T intron_variant BRCA-EU 9 129639626 129639626 single base substitution C T upstream_gene_variant BRCA-EU 9 129639879 129639879 single base substitution G A intron_variant BRCA-EU 9 129639879 129639879 single base substitution G A upstream_gene_variant BRCA-EU 9 129639970 129639970 single base substitution C G intron_variant BRCA-EU 9 129639970 129639970 single base substitution C G upstream_gene_variant BRCA-EU 9 129641263 129641263 single base substitution A G intron_variant BRCA-EU 9 129641263 129641263 single base substitution A G upstream_gene_variant BRCA-EU 9 129642000 129642000 single base substitution A T missense_variant T104S 310A>T BRCA-EU 9 129642000 129642000 single base substitution A T missense_variant T108S 322A>T BRCA-EU 9 129644638 129644638 single base substitution G C 3_prime_UTR_variant BRCA-EU 9 129645842 129645842 single base substitution A G 3_prime_UTR_variant BRCA-EU 9 129646861 129646861 single base substitution G C 3_prime_UTR_variant BRCA-EU 9 129648142 129648142 single base substitution A T 3_prime_UTR_variant BRCA-EU 9 129649861 129649861 single base substitution A C downstream_gene_variant BRCA-EU 9 129651265 129651265 single base substitution G A downstream_gene_variant BRCA-FR 9 129620918 129620918 single base substitution C G upstream_gene_variant BRCA-FR 9 129623014 129623014 single base substitution G C 5_prime_UTR_variant BRCA-FR 9 129630370 129630370 single base substitution A T intron_variant BRCA-FR 9 129632174 129632174 single base substitution C T intron_variant BRCA-FR 9 129633200 129633200 single base substitution T C intron_variant BRCA-FR 9 129634830 129634830 single base substitution C T intron_variant BRCA-FR 9 129635894 129635894 single base substitution C G intron_variant BRCA-FR 9 129639970 129639970 single base substitution C G intron_variant BRCA-FR 9 129639970 129639970 single base substitution C G upstream_gene_variant BRCA-FR 9 129641678 129641678 single base substitution C T 5_prime_UTR_variant BRCA-UK 9 129626480 129626480 single base substitution C T intron_variant BTCA-JP 9 129641766 129641766 single base substitution C T missense_variant R26C 76C>T BTCA-JP 9 129641766 129641766 single base substitution C T missense_variant R30C 88C>T BTCA-JP 9 129642773 129642773 single base substitution G A synonymous_variant A361A 1083G>A BTCA-JP 9 129642773 129642773 single base substitution G A synonymous_variant A365A 1095G>A CESC-US 9 129642988 129642988 single base substitution G T missense_variant C433F 1298G>T CESC-US 9 129642988 129642988 single base substitution G T missense_variant C437F 1310G>T CLLE-ES 9 129637782 129637792 deletion of <=200bp CTTTTGTCCAT - intron_variant CLLE-ES 9 129637782 129637792 deletion of <=200bp CTTTTGTCCAT - upstream_gene_variant CLLE-ES 9 129647143 129647143 single base substitution C A 3_prime_UTR_variant COAD-US 9 129642046 129642046 single base substitution C T missense_variant T119M 356C>T COAD-US 9 129642046 129642046 single base substitution C T missense_variant T123M 368C>T COAD-US 9 129644245 129644245 insertion of <=200bp - T 3_prime_UTR_variant COCA-CN 9 129620943 129620943 single base substitution T A upstream_gene_variant COCA-CN 9 129636384 129636384 single base substitution G A intron_variant COCA-CN 9 129642468 129642468 single base substitution G A missense_variant E260K 778G>A COCA-CN 9 129642468 129642468 single base substitution G A missense_variant E264K 790G>A COCA-CN 9 129642952 129642952 single base substitution G A missense_variant G421D 1262G>A COCA-CN 9 129642952 129642952 single base substitution G A missense_variant G425D 1274G>A COCA-CN 9 129643057 129643057 single base substitution A G missense_variant E456G 1367A>G COCA-CN 9 129643057 129643057 single base substitution A G missense_variant E460G 1379A>G COCA-CN 9 129643082 129643082 single base substitution C T synonymous_variant P464P 1392C>T COCA-CN 9 129643082 129643082 single base substitution C T synonymous_variant P468P 1404C>T COCA-CN 9 129645259 129645259 single base substitution G A 3_prime_UTR_variant COCA-CN 9 129651142 129651142 single base substitution C T downstream_gene_variant EOPC-DE 9 129631599 129631599 single base substitution C T intron_variant ESAD-UK 9 129619117 129619117 single base substitution G A upstream_gene_variant ESAD-UK 9 129622258 129622258 single base substitution A T upstream_gene_variant ESAD-UK 9 129622558 129622558 deletion of <=200bp G - upstream_gene_variant ESAD-UK 9 129623619 129623619 deletion of <=200bp G - intron_variant ESAD-UK 9 129623621 129623621 single base substitution G C intron_variant ESAD-UK 9 129626540 129626540 single base substitution T G intron_variant ESAD-UK 9 129628320 129628320 single base substitution G A intron_variant ESAD-UK 9 129628328 129628328 deletion of <=200bp C - intron_variant ESAD-UK 9 129629710 129629710 deletion of <=200bp T - intron_variant ESAD-UK 9 129629815 129629815 single base substitution A T intron_variant ESAD-UK 9 129634790 129634790 single base substitution G A intron_variant ESAD-UK 9 129635907 129635907 single base substitution G A intron_variant ESAD-UK 9 129635946 129635946 single base substitution C T intron_variant ESAD-UK 9 129640012 129640012 single base substitution G A intron_variant ESAD-UK 9 129640012 129640012 single base substitution G A upstream_gene_variant ESAD-UK 9 129640253 129640253 single base substitution G A intron_variant ESAD-UK 9 129640253 129640253 single base substitution G A upstream_gene_variant ESAD-UK 9 129641010 129641010 single base substitution T G intron_variant ESAD-UK 9 129641010 129641010 single base substitution T G upstream_gene_variant ESAD-UK 9 129642126 129642126 single base substitution G A missense_variant E146K 436G>A ESAD-UK 9 129642126 129642126 single base substitution G A missense_variant E150K 448G>A ESAD-UK 9 129642741 129642741 single base substitution G A missense_variant G351R 1051G>A ESAD-UK 9 129642741 129642741 single base substitution G A missense_variant G355R 1063G>A ESAD-UK 9 129645154 129645154 single base substitution C T 3_prime_UTR_variant ESAD-UK 9 129645365 129645365 single base substitution C T 3_prime_UTR_variant ESAD-UK 9 129647596 129647596 single base substitution A C 3_prime_UTR_variant ESAD-UK 9 129649096 129649096 single base substitution T G downstream_gene_variant ESAD-UK 9 129651485 129651485 deletion of <=200bp A - downstream_gene_variant ESCA-CN 9 129642105 129642105 single base substitution G A missense_variant V139I 415G>A ESCA-CN 9 129642105 129642105 single base substitution G A missense_variant V143I 427G>A ESCA-CN 9 129646763 129646763 insertion of <=200bp - T 3_prime_UTR_variant GBM-US 9 129643102 129643102 single base substitution T G missense_variant V471G 1412T>G GBM-US 9 129643102 129643102 single base substitution T G missense_variant V475G 1424T>G LAML-KR 9 129619010 129619010 single base substitution G T upstream_gene_variant LAML-KR 9 129633661 129633661 single base substitution G T intron_variant LICA-FR 9 129622027 129622028 deletion of <=200bp CA - upstream_gene_variant LICA-FR 9 129631055 129631055 single base substitution G T intron_variant LICA-FR 9 129638030 129638030 single base substitution G T intron_variant LICA-FR 9 129638030 129638030 single base substitution G T upstream_gene_variant LICA-FR 9 129640157 129640157 single base substitution G A intron_variant LICA-FR 9 129640157 129640157 single base substitution G A upstream_gene_variant LICA-FR 9 129642262 129642262 single base substitution G A missense_variant R191H 572G>A LICA-FR 9 129642262 129642262 single base substitution G A missense_variant R195H 584G>A LICA-FR 9 129643824 129643824 single base substitution A G 3_prime_UTR_variant LINC-JP 9 129634863 129634863 single base substitution G T intron_variant LINC-JP 9 129641675 129641675 single base substitution C T 5_prime_UTR_variant LINC-JP 9 129641787 129641787 single base substitution G T missense_variant D33Y 97G>T LINC-JP 9 129641787 129641787 single base substitution G T missense_variant D37Y 109G>T LINC-JP 9 129642294 129642294 single base substitution C T missense_variant R202C 604C>T LINC-JP 9 129642294 129642294 single base substitution C T missense_variant R206C 616C>T LINC-JP 9 129649789 129649789 single base substitution G A downstream_gene_variant LIRI-JP 9 129618688 129618688 single base substitution T C upstream_gene_variant LIRI-JP 9 129619586 129619586 single base substitution A G upstream_gene_variant LIRI-JP 9 129620592 129620592 single base substitution A G upstream_gene_variant LIRI-JP 9 129624626 129624626 single base substitution A C intron_variant LIRI-JP 9 129628807 129628807 single base substitution C G intron_variant LIRI-JP 9 129631960 129631960 single base substitution C G intron_variant LIRI-JP 9 129631961 129631961 single base substitution T C intron_variant LIRI-JP 9 129634962 129634962 single base substitution T C intron_variant LIRI-JP 9 129640231 129640231 single base substitution C T intron_variant LIRI-JP 9 129640231 129640231 single base substitution C T upstream_gene_variant LIRI-JP 9 129640499 129640499 single base substitution A G intron_variant LIRI-JP 9 129640499 129640499 single base substitution A G upstream_gene_variant LIRI-JP 9 129641479 129641479 single base substitution G A intron_variant LIRI-JP 9 129641479 129641479 single base substitution G A upstream_gene_variant LIRI-JP 9 129641850 129641850 single base substitution T G missense_variant S54A 160T>G LIRI-JP 9 129641850 129641850 single base substitution T G missense_variant S58A 172T>G LIRI-JP 9 129646137 129646137 single base substitution C A 3_prime_UTR_variant LIRI-JP 9 129646502 129646502 single base substitution A G 3_prime_UTR_variant LIRI-JP 9 129648555 129648555 single base substitution C G downstream_gene_variant LIRI-JP 9 129651636 129651637 deletion of <=200bp TC - downstream_gene_variant LIRI-JP 9 129652799 129652799 single base substitution C T downstream_gene_variant LUSC-KR 9 129623956 129623956 single base substitution T A intron_variant LUSC-KR 9 129634593 129634593 single base substitution G A intron_variant LUSC-KR 9 129636644 129636644 single base substitution C G intron_variant LUSC-KR 9 129636644 129636644 single base substitution C G upstream_gene_variant LUSC-KR 9 129642692 129642692 single base substitution G T synonymous_variant L334L 1002G>T LUSC-KR 9 129642692 129642692 single base substitution G T synonymous_variant L338L 1014G>T LUSC-KR 9 129642902 129642902 single base substitution C G missense_variant F404L 1212C>G LUSC-KR 9 129642902 129642902 single base substitution C G missense_variant F408L 1224C>G LUSC-KR 9 129644607 129644607 single base substitution T C 3_prime_UTR_variant LUSC-US 9 129642902 129642902 single base substitution C T synonymous_variant F404F 1212C>T LUSC-US 9 129642902 129642902 single base substitution C T synonymous_variant F408F 1224C>T MALY-DE 9 129617948 129617948 single base substitution C T upstream_gene_variant MALY-DE 9 129644960 129644960 single base substitution A C 3_prime_UTR_variant MALY-DE 9 129649102 129649103 deletion of <=200bp TG - downstream_gene_variant MELA-AU 9 129617950 129617950 single base substitution G A upstream_gene_variant MELA-AU 9 129618088 129618088 single base substitution C T upstream_gene_variant MELA-AU 9 129618122 129618122 single base substitution G A upstream_gene_variant MELA-AU 9 129618331 129618331 single base substitution G A upstream_gene_variant MELA-AU 9 129618976 129618976 single base substitution C T upstream_gene_variant MELA-AU 9 129618977 129618977 single base substitution C T upstream_gene_variant MELA-AU 9 129619387 129619387 single base substitution C T upstream_gene_variant MELA-AU 9 129619774 129619774 single base substitution G A upstream_gene_variant MELA-AU 9 129619814 129619814 single base substitution G A upstream_gene_variant MELA-AU 9 129619828 129619828 single base substitution G A upstream_gene_variant MELA-AU 9 129619848 129619848 single base substitution G A upstream_gene_variant MELA-AU 9 129620051 129620051 single base substitution C T upstream_gene_variant MELA-AU 9 129620172 129620172 single base substitution G A upstream_gene_variant MELA-AU 9 129620191 129620192 multiple base substitution (>=2bp and <=200bp) GG AA upstream_gene_variant MELA-AU 9 129620850 129620850 single base substitution G A upstream_gene_variant MELA-AU 9 129620990 129620990 single base substitution G A upstream_gene_variant MELA-AU 9 129621485 129621485 single base substitution G A upstream_gene_variant MELA-AU 9 129622183 129622183 single base substitution C T upstream_gene_variant MELA-AU 9 129622682 129622683 multiple base substitution (>=2bp and <=200bp) GG AA upstream_gene_variant MELA-AU 9 129622685 129622685 single base substitution G A upstream_gene_variant MELA-AU 9 129622722 129622722 single base substitution G A upstream_gene_variant MELA-AU 9 129622728 129622728 single base substitution G A upstream_gene_variant MELA-AU 9 129622878 129622878 single base substitution C T upstream_gene_variant MELA-AU 9 129622946 129622946 single base substitution G A 5_prime_UTR_variant MELA-AU 9 129625083 129625083 single base substitution C T intron_variant MELA-AU 9 129625385 129625385 single base substitution C T intron_variant MELA-AU 9 129626296 129626296 single base substitution C T intron_variant MELA-AU 9 129626674 129626674 single base substitution C T intron_variant MELA-AU 9 129626686 129626686 single base substitution G A intron_variant MELA-AU 9 129627047 129627047 deletion of <=200bp T - intron_variant MELA-AU 9 129627285 129627285 single base substitution C T intron_variant MELA-AU 9 129628523 129628523 single base substitution C T intron_variant MELA-AU 9 129629124 129629124 single base substitution C T intron_variant MELA-AU 9 129629511 129629511 single base substitution C T intron_variant MELA-AU 9 129630127 129630127 single base substitution C T intron_variant MELA-AU 9 129630135 129630135 single base substitution C T intron_variant MELA-AU 9 129630897 129630897 single base substitution C T intron_variant MELA-AU 9 129631705 129631705 single base substitution C T intron_variant MELA-AU 9 129632216 129632216 single base substitution C T intron_variant MELA-AU 9 129632344 129632344 single base substitution T G intron_variant MELA-AU 9 129632709 129632709 single base substitution C T intron_variant MELA-AU 9 129633141 129633141 single base substitution G A intron_variant MELA-AU 9 129633174 129633174 single base substitution C T intron_variant MELA-AU 9 129633441 129633441 single base substitution G A intron_variant MELA-AU 9 129633457 129633458 deletion of <=200bp GG - intron_variant MELA-AU 9 129633732 129633732 single base substitution C T intron_variant MELA-AU 9 129633795 129633796 multiple base substitution (>=2bp and <=200bp) CC TT intron_variant MELA-AU 9 129634324 129634325 multiple base substitution (>=2bp and <=200bp) CC TA intron_variant MELA-AU 9 129634530 129634530 single base substitution T C intron_variant MELA-AU 9 129636104 129636104 single base substitution G A intron_variant MELA-AU 9 129636361 129636361 single base substitution C T intron_variant MELA-AU 9 129636388 129636388 single base substitution T C intron_variant MELA-AU 9 129636959 129636959 single base substitution C T intron_variant MELA-AU 9 129636959 129636959 single base substitution C T upstream_gene_variant MELA-AU 9 129637051 129637051 single base substitution C T intron_variant MELA-AU 9 129637051 129637051 single base substitution C T upstream_gene_variant MELA-AU 9 129637156 129637156 single base substitution C T intron_variant MELA-AU 9 129637156 129637156 single base substitution C T upstream_gene_variant MELA-AU 9 129639257 129639257 single base substitution G T intron_variant MELA-AU 9 129639257 129639257 single base substitution G T upstream_gene_variant MELA-AU 9 129639276 129639277 multiple base substitution (>=2bp and <=200bp) CC TT intron_variant MELA-AU 9 129639276 129639277 multiple base substitution (>=2bp and <=200bp) CC TT upstream_gene_variant MELA-AU 9 129639346 129639346 single base substitution C T intron_variant MELA-AU 9 129639346 129639346 single base substitution C T upstream_gene_variant MELA-AU 9 129639663 129639664 multiple base substitution (>=2bp and <=200bp) CC TT intron_variant MELA-AU 9 129639663 129639664 multiple base substitution (>=2bp and <=200bp) CC TT upstream_gene_variant MELA-AU 9 129640156 129640156 single base substitution C A intron_variant MELA-AU 9 129640156 129640156 single base substitution C A upstream_gene_variant MELA-AU 9 129640496 129640497 multiple base substitution (>=2bp and <=200bp) CC TT intron_variant MELA-AU 9 129640496 129640497 multiple base substitution (>=2bp and <=200bp) CC TT upstream_gene_variant MELA-AU 9 129641018 129641018 single base substitution T G intron_variant MELA-AU 9 129641018 129641018 single base substitution T G upstream_gene_variant MELA-AU 9 129641410 129641410 single base substitution C T intron_variant MELA-AU 9 129641410 129641410 single base substitution C T upstream_gene_variant MELA-AU 9 129642187 129642187 single base substitution C T missense_variant P166L 497C>T MELA-AU 9 129642187 129642187 single base substitution C T missense_variant P170L 509C>T MELA-AU 9 129642246 129642246 single base substitution C T missense_variant P186S 556C>T MELA-AU 9 129642246 129642246 single base substitution C T missense_variant P190S 568C>T MELA-AU 9 129642570 129642570 single base substitution A G missense_variant N294D 880A>G MELA-AU 9 129642570 129642570 single base substitution A G missense_variant N298D 892A>G MELA-AU 9 129643290 129643290 single base substitution C T 3_prime_UTR_variant MELA-AU 9 129643337 129643337 single base substitution C T 3_prime_UTR_variant MELA-AU 9 129644647 129644648 multiple base substitution (>=2bp and <=200bp) CC TT 3_prime_UTR_variant MELA-AU 9 129645220 129645220 single base substitution C T 3_prime_UTR_variant MELA-AU 9 129646541 129646541 single base substitution T C 3_prime_UTR_variant MELA-AU 9 129646828 129646828 single base substitution C G 3_prime_UTR_variant MELA-AU 9 129648362 129648362 single base substitution G A downstream_gene_variant MELA-AU 9 129648412 129648412 single base substitution C T downstream_gene_variant MELA-AU 9 129648457 129648457 single base substitution G A downstream_gene_variant MELA-AU 9 129648995 129648995 single base substitution C T downstream_gene_variant MELA-AU 9 129649023 129649023 single base substitution C T downstream_gene_variant MELA-AU 9 129649197 129649197 single base substitution C T downstream_gene_variant MELA-AU 9 129649475 129649475 single base substitution G A downstream_gene_variant MELA-AU 9 129650014 129650015 multiple base substitution (>=2bp and <=200bp) CC TT downstream_gene_variant MELA-AU 9 129650081 129650081 single base substitution T C downstream_gene_variant MELA-AU 9 129650717 129650717 single base substitution C T downstream_gene_variant MELA-AU 9 129651177 129651177 single base substitution C T downstream_gene_variant MELA-AU 9 129651829 129651829 single base substitution T G downstream_gene_variant MELA-AU 9 129651860 129651860 single base substitution C T downstream_gene_variant MELA-AU 9 129652029 129652029 single base substitution C T downstream_gene_variant MELA-AU 9 129652074 129652074 single base substitution G A downstream_gene_variant MELA-AU 9 129652094 129652094 single base substitution C T downstream_gene_variant MELA-AU 9 129652143 129652143 single base substitution C T downstream_gene_variant MELA-AU 9 129652354 129652354 single base substitution C T downstream_gene_variant MELA-AU 9 129652614 129652614 single base substitution T C downstream_gene_variant ORCA-IN 9 129620756 129620756 single base substitution A T upstream_gene_variant ORCA-IN 9 129630560 129630560 single base substitution G A intron_variant ORCA-IN 9 129634551 129634551 single base substitution C A intron_variant ORCA-IN 9 129635641 129635641 single base substitution C G intron_variant ORCA-IN 9 129636136 129636136 single base substitution C T intron_variant OV-AU 9 129623479 129623479 single base substitution C T intron_variant OV-AU 9 129624931 129624931 single base substitution T A intron_variant OV-AU 9 129625157 129625157 single base substitution G T intron_variant OV-AU 9 129632972 129632972 single base substitution G A intron_variant OV-AU 9 129633932 129633932 single base substitution G A intron_variant OV-AU 9 129634338 129634338 single base substitution T C intron_variant OV-AU 9 129635795 129635795 single base substitution G A intron_variant PACA-AU 9 129619346 129619346 single base substitution A T upstream_gene_variant PACA-AU 9 129619778 129619778 single base substitution A G upstream_gene_variant PACA-AU 9 129621245 129621245 single base substitution G T upstream_gene_variant PACA-AU 9 129621348 129621348 single base substitution C T upstream_gene_variant PACA-AU 9 129630060 129630060 single base substitution T G intron_variant PACA-AU 9 129636618 129636618 single base substitution C T intron_variant PACA-AU 9 129640006 129640006 single base substitution G A intron_variant PACA-AU 9 129640006 129640006 single base substitution G A upstream_gene_variant PACA-AU 9 129641382 129641382 single base substitution C T intron_variant PACA-AU 9 129641382 129641382 single base substitution C T upstream_gene_variant PACA-AU 9 129648427 129648427 single base substitution G C downstream_gene_variant PACA-AU 9 129649601 129649601 deletion of <=200bp T - downstream_gene_variant PACA-AU 9 129651473 129651473 single base substitution G A downstream_gene_variant PACA-CA 9 129618010 129618010 single base substitution C T upstream_gene_variant PACA-CA 9 129619121 129619121 single base substitution C T upstream_gene_variant PACA-CA 9 129630107 129630107 single base substitution T C intron_variant PACA-CA 9 129635863 129635863 single base substitution T C intron_variant PACA-CA 9 129641190 129641190 single base substitution A G intron_variant PACA-CA 9 129641190 129641190 single base substitution A G upstream_gene_variant PACA-CA 9 129643708 129643708 single base substitution T C 3_prime_UTR_variant PACA-CA 9 129648853 129648853 single base substitution C T downstream_gene_variant PACA-CA 9 129649897 129649897 deletion of <=200bp T - downstream_gene_variant PAEN-AU 9 129642050 129642050 single base substitution G A synonymous_variant Q120Q 360G>A PAEN-AU 9 129642050 129642050 single base substitution G A synonymous_variant Q124Q 372G>A PBCA-DE 9 129632773 129632773 single base substitution T C intron_variant PBCA-DE 9 129635055 129635055 deletion of <=200bp G - intron_variant PRAD-CA 9 129652059 129652059 single base substitution G T downstream_gene_variant PRAD-UK 9 129644025 129644025 single base substitution A G 3_prime_UTR_variant PRAD-UK 9 129648207 129648207 single base substitution A C downstream_gene_variant PRAD-US 9 129642273 129642273 single base substitution C T stop_gained Q195* 583C>T PRAD-US 9 129642273 129642273 single base substitution C T stop_gained Q199* 595C>T RECA-EU 9 129630958 129630958 single base substitution T C intron_variant RECA-EU 9 129641545 129641545 single base substitution T A intron_variant RECA-EU 9 129641545 129641545 single base substitution T A upstream_gene_variant RECA-EU 9 129650089 129650089 single base substitution A T downstream_gene_variant RECA-EU 9 129650814 129650814 single base substitution C G downstream_gene_variant SKCA-BR 9 129619122 129619122 single base substitution C T upstream_gene_variant SKCA-BR 9 129619294 129619294 single base substitution C T upstream_gene_variant SKCA-BR 9 129619676 129619676 single base substitution G A upstream_gene_variant SKCA-BR 9 129620403 129620403 single base substitution T G upstream_gene_variant SKCA-BR 9 129621484 129621484 single base substitution G A upstream_gene_variant SKCA-BR 9 129621688 129621688 single base substitution G A upstream_gene_variant SKCA-BR 9 129622402 129622402 single base substitution T G upstream_gene_variant SKCA-BR 9 129622422 129622422 single base substitution T C upstream_gene_variant SKCA-BR 9 129626008 129626008 single base substitution C T intron_variant SKCA-BR 9 129628523 129628523 single base substitution C T intron_variant SKCA-BR 9 129629756 129629756 single base substitution C T intron_variant SKCA-BR 9 129634451 129634451 single base substitution A C intron_variant SKCA-BR 9 129635894 129635894 single base substitution C T intron_variant SKCA-BR 9 129639177 129639177 single base substitution A G intron_variant SKCA-BR 9 129639177 129639177 single base substitution A G upstream_gene_variant SKCA-BR 9 129644966 129644966 single base substitution G A 3_prime_UTR_variant SKCA-BR 9 129645787 129645787 single base substitution C T 3_prime_UTR_variant SKCA-BR 9 129645788 129645788 single base substitution C T 3_prime_UTR_variant SKCA-BR 9 129647287 129647287 single base substitution G A 3_prime_UTR_variant SKCA-BR 9 129648673 129648673 single base substitution C T downstream_gene_variant SKCA-BR 9 129648677 129648677 single base substitution C T downstream_gene_variant SKCA-BR 9 129650321 129650329 deletion of <=200bp AGCCACCTT - downstream_gene_variant SKCA-BR 9 129650467 129650467 single base substitution C T downstream_gene_variant SKCA-BR 9 129650848 129650848 single base substitution C T downstream_gene_variant SKCA-BR 9 129651602 129651602 single base substitution C T downstream_gene_variant SKCA-BR 9 129651801 129651801 single base substitution A G downstream_gene_variant SKCA-BR 9 129652366 129652366 single base substitution C T downstream_gene_variant SKCM-US 9 129641745 129641745 single base substitution C T synonymous_variant L19L 55C>T SKCM-US 9 129641745 129641745 single base substitution C T synonymous_variant L23L 67C>T SKCM-US 9 129641834 129641834 single base substitution A G synonymous_variant A48A 144A>G SKCM-US 9 129641834 129641834 single base substitution A G synonymous_variant A52A 156A>G SKCM-US 9 129641854 129641854 single base substitution C T missense_variant P55L 164C>T SKCM-US 9 129641854 129641854 single base substitution C T missense_variant P59L 176C>T SKCM-US 9 129642196 129642196 single base substitution C T missense_variant S169F 506C>T SKCM-US 9 129642196 129642196 single base substitution C T missense_variant S173F 518C>T SKCM-US 9 129642466 129642466 single base substitution C T missense_variant T259I 776C>T SKCM-US 9 129642466 129642466 single base substitution C T missense_variant T263I 788C>T SKCM-US 9 129642541 129642541 deletion of <=200bp C - frameshift_variant S284 SKCM-US 9 129642541 129642541 deletion of <=200bp C - frameshift_variant S288 SKCM-US 9 129642549 129642549 single base substitution C T stop_gained Q287* 859C>T SKCM-US 9 129642549 129642549 single base substitution C T stop_gained Q291* 871C>T SKCM-US 9 129642869 129642869 single base substitution C T synonymous_variant L393L 1179C>T SKCM-US 9 129642869 129642869 single base substitution C T synonymous_variant L397L 1191C>T SKCM-US 9 129642870 129642870 single base substitution C T missense_variant H394Y 1180C>T SKCM-US 9 129642870 129642870 single base substitution C T missense_variant H398Y 1192C>T SKCM-US 9 129643003 129643003 single base substitution C T missense_variant P438L 1313C>T SKCM-US 9 129643003 129643003 single base substitution C T missense_variant P442L 1325C>T SKCM-US 9 129643035 129643035 single base substitution A G missense_variant K449E 1345A>G SKCM-US 9 129643035 129643035 single base substitution A G missense_variant K453E 1357A>G STAD-US 9 129641763 129641763 single base substitution C T missense_variant L25F 73C>T STAD-US 9 129641763 129641763 single base substitution C T missense_variant L29F 85C>T STAD-US 9 129641782 129641783 deletion of <=200bp TA - frameshift_variant L31 STAD-US 9 129641782 129641783 deletion of <=200bp TA - frameshift_variant L35 STAD-US 9 129642094 129642094 single base substitution A C missense_variant D135A 404A>C STAD-US 9 129642094 129642094 single base substitution A C missense_variant D139A 416A>C STAD-US 9 129642108 129642108 single base substitution G A missense_variant G140S 418G>A STAD-US 9 129642108 129642108 single base substitution G A missense_variant G144S 430G>A STAD-US 9 129642360 129642360 single base substitution C T synonymous_variant L224L 670C>T STAD-US 9 129642360 129642360 single base substitution C T synonymous_variant L228L 682C>T STAD-US 9 129642652 129642652 single base substitution G A missense_variant R321H 962G>A STAD-US 9 129642652 129642652 single base substitution G A missense_variant R325H 974G>A STAD-US 9 129642791 129642791 single base substitution G A synonymous_variant P367P 1101G>A STAD-US 9 129642791 129642791 single base substitution G A synonymous_variant P371P 1113G>A STAD-US 9 129642876 129642876 single base substitution G A missense_variant G396R 1186G>A STAD-US 9 129642876 129642876 single base substitution G A missense_variant G400R 1198G>A UCEC-US 9 129641995 129641995 single base substitution T C missense_variant F102S 305T>C UCEC-US 9 129641995 129641995 single base substitution T C missense_variant F106S 317T>C UCEC-US 9 129642107 129642107 single base substitution C T synonymous_variant V139V 417C>T UCEC-US 9 129642107 129642107 single base substitution C T synonymous_variant V143V 429C>T UCEC-US 9 129642168 129642168 single base substitution C T missense_variant P160S 478C>T UCEC-US 9 129642168 129642168 single base substitution C T missense_variant P164S 490C>T UCEC-US 9 129642242 129642242 single base substitution G A synonymous_variant T184T 552G>A UCEC-US 9 129642242 129642242 single base substitution G A synonymous_variant T188T 564G>A UCEC-US 9 129642261 129642261 single base substitution C T missense_variant R191C 571C>T UCEC-US 9 129642261 129642261 single base substitution C T missense_variant R195C 583C>T UCEC-US 9 129642338 129642338 single base substitution G T missense_variant E216D 648G>T UCEC-US 9 129642338 129642338 single base substitution G T missense_variant E220D 660G>T UCEC-US 9 129642386 129642386 single base substitution C T synonymous_variant T232T 696C>T UCEC-US 9 129642386 129642386 single base substitution C T synonymous_variant T236T 708C>T UCEC-US 9 129642865 129642865 single base substitution G A missense_variant R392Q 1175G>A UCEC-US 9 129642865 129642865 single base substitution G A missense_variant R396Q 1187G>A UCEC-US 9 129642907 129642907 single base substitution G T missense_variant G406V 1217G>T UCEC-US 9 129642907 129642907 single base substitution G T missense_variant G410V 1229G>T UCEC-US 9 129642962 129642962 single base substitution T C synonymous_variant D424D 1272T>C UCEC-US 9 129642962 129642962 single base substitution T C synonymous_variant D428D 1284T>C UCEC-US 9 129642988 129642988 single base substitution G A missense_variant C433Y 1298G>A UCEC-US 9 129642988 129642988 single base substitution G A missense_variant C437Y 1310G>A UCEC-US 9 129643069 129643069 single base substitution G A missense_variant R460H 1379G>A UCEC-US 9 129643069 129643069 single base substitution G A missense_variant R464H 1391G>A

Mutation - COSMIC Sample Name Mutation ID Mutation CDS Mutation AA Mutation Description Mutation Genome Position Mutation Strand LUAD-RT-S01818 COSM384156 c.1273G>C p.D425H Substitution - Missense 9:126880684-126880684 + NB-3211 COSM1289006 c.687C>T p.S229S Substitution - coding silent 9:126880098-126880098 + ESO-2143 COSM1270714 c.906G>A p.L302L Substitution - coding silent 9:126880317-126880317 + CHC1191T COSM4799747 c.572G>A p.R191H Substitution - Missense 9:126879983-126879983 + sysucc-935T COSM5763863 c.1367A>G p.E456G Substitution - Missense 9:126880778-126880778 + TCGA-BF-A3DM-01 COSM3926179 c.1180C>T p.H394Y Substitution - Missense 9:126880591-126880591 + TCGA-13-0891-01 COSM73334 c.447C>A p.N149K Substitution - Missense 9:126879858-126879858 + Gp5D COSM3325271 c.1308C>A p.C436* Substitution - Nonsense 9:126880719-126880719 + TCGA-EE-A29B-06 COSM3654389 c.1179C>T p.L393L Substitution - coding silent 9:126880590-126880590 + TCGA-EE-A29E-06 COSM3654387 c.144A>G p.A48A Substitution - coding silent 9:126879555-126879555 + ESCC_BICR_020T COSM5429272 c.415G>A p.V139I Substitution - Missense 9:126879826-126879826 + TCGA-60-2709-01 COSM752702 c.1212C>T p.F404F Substitution - coding silent 9:126880623-126880623 + TCGA-D1-A17B-01 COSM1105240 c.741C>T p.S247S Substitution - coding silent 9:126880152-126880152 + T3152 COSM4742130 c.976T>C p.L326L Substitution - coding silent 9:126880387-126880387 + TCGA-AP-A0LM-01 COSM1105234 c.571C>T p.R191C Substitution - Missense 9:126879982-126879982 + Gp2D COSM3325271 c.1308C>A p.C436* Substitution - Nonsense 9:126880719-126880719 + EGC8 COSM5063606 c.460A>G p.S154G Substitution - Missense 9:126879871-126879871 + MEL-Ma-Mel-65 COSM1167748 c.490delT p.S164fs*52 Deletion - Frameshift 9:126879901-126879901 + 587228 COSM1233138 c.1411G>A p.V471M Substitution - Missense 9:126880822-126880822 + TCGA-AG-A002-01 COSM264765 c.895T>G p.F299V Substitution - Missense 9:126880306-126880306 + TCGA-D9-A6EA-06 COSM4397768 c.859C>T p.Q287* Substitution - Nonsense 9:126880270-126880270 + TCGA-AP-A056-01 COSM1105249 c.1379G>A p.R460H Substitution - Missense 9:126880790-126880790 + TCGA-FW-A3R5-06 COSM3926178 c.506C>T p.S169F Substitution - Missense 9:126879917-126879917 + LS180 COSM3325266 c.961C>T p.R321C Substitution - Missense 9:126880372-126880372 + BD72T COSM5512614 c.76C>T p.R26C Substitution - Missense 9:126879487-126879487 + 2521243 COSM5886653 c.1388C>T p.S463F Substitution - Missense 9:126880799-126880799 + TCGA-AP-A059-01 COSM1105243 c.1217G>T p.G406V Substitution - Missense 9:126880628-126880628 + BD49T COSM5497953 c.1083G>A p.A361A Substitution - coding silent 9:126880494-126880494 + TCGA-DA-A1IC-06 COSM3654391 c.1345A>G p.K449E Substitution - Missense 9:126880756-126880756 + CHC1191T COSM4799747 c.572G>A p.R191H Substitution - Missense 9:126879983-126879983 + ESO-143 COSM1270713 c.417C>G p.V139V Substitution - coding silent 9:126879828-126879828 + HN_62237 COSM128514 c.762C>T p.D254D Substitution - coding silent 9:126880173-126880173 + TCGA-BR-7959-01 COSM3904160 c.73C>T p.L25F Substitution - Missense 9:126879484-126879484 + T3021 COSM4742126 c.172C>T p.R58W Substitution - Missense 9:126879583-126879583 + CSCC-44-T COSM4497440 c.496C>T p.P166S Substitution - Missense 9:126879907-126879907 + TCGA-AP-A059-01 COSM1105236 c.648G>T p.E216D Substitution - Missense 9:126880059-126880059 + TCGA-EE-A29R-06 COSM3654388 c.164C>T p.P55L Substitution - Missense 9:126879575-126879575 + 9227_T COSM5039795 c.86G>A p.G29E Substitution - Missense 9:126879497-126879497 + EGC15 COSM5063605 c.186G>A p.A62A Substitution - coding silent 9:126879597-126879597 + TCGA-GV-A3JX-01 COSM1314459 c.634G>C p.E212Q Substitution - Missense 9:126880045-126880045 + 1N34-VS-1T34 COSM4974813 c.733A>T p.S245C Substitution - Missense 9:126880144-126880144 + TCGA-BR-4201-01 COSM3904164 c.1101G>A p.P367P Substitution - coding silent 9:126880512-126880512 + C547 COSM4442569 c.52G>A p.V18I Substitution - Missense 9:126879463-126879463 + TCGA-HU-A4GX-01 COSM3904165 c.1186G>A p.G396R Substitution - Missense 9:126880597-126880597 + 46M COSM5589389 c.604C>A p.R202S Substitution - Missense 9:126880015-126880015 + TCGA-AP-A059-01 COSM1105230 c.478C>T p.P160S Substitution - Missense 9:126879889-126879889 + HCC107 COSM1624554 c.97G>T p.D33Y Substitution - Missense 9:126879508-126879508 + TCGA-D1-A167-01 COSM1105245 c.1272T>C p.D424D Substitution - coding silent 9:126880683-126880683 + TCGA-D9-A6EC-06 COSM4406122 c.776C>T p.T259I Substitution - Missense 9:126880187-126880187 + S02241 COSM5676945 c.37G>T p.E13* Substitution - Nonsense 9:126879448-126879448 + TCGA-HU-A4GT-01 COSM3904162 c.418G>A p.G140S Substitution - Missense 9:126879829-126879829 + STC291 COSM5063607 c.844G>A p.A282T Substitution - Missense 9:126880255-126880255 + BN24T COSM1624555 c.604C>T p.R202C Substitution - Missense 9:126880015-126880015 + Gp2D COSM4628829 c.782T>A p.M261K Substitution - Missense 9:126880193-126880193 + J30_T COSM3952343 c.1212C>G p.F404L Substitution - Missense 9:126880623-126880623 + pfg043T COSM4761283 c.383A>C p.K128T Substitution - Missense 9:126879794-126879794 + S01563 COSM5670122 c.724G>C p.D242H Substitution - Missense 9:126880135-126880135 + WA3 COSM242298 c.1175G>A p.R392Q Substitution - Missense 9:126880586-126880586 + TCGA-GV-A3JX-01 COSM1314458 c.508C>G p.Q170E Substitution - Missense 9:126879919-126879919 + TCGA-B5-A0JY-01 COSM1105226 c.305T>C p.F102S Substitution - Missense 9:126879716-126879716 + TCGA-D1-A103-01 COSM1105228 c.417C>T p.V139V Substitution - coding silent 9:126879828-126879828 + TCGA-Q1-A73R-01 COSM4856080 c.1298G>T p.C433F Substitution - Missense 9:126880709-126880709 + TCGA-HF-7132-01 COSM3904163 c.670C>T p.L224L Substitution - coding silent 9:126880081-126880081 + TCGA-32-4210-01 COSM3413337 c.1412T>G p.V471G Substitution - Missense 9:126880823-126880823 + CRC-21T COSM5479481 c.1262G>A p.G421D Substitution - Missense 9:126880673-126880673 + HT115 COSM3325265 c.693C>T p.I231I Substitution - coding silent 9:126880104-126880104 + HT115 COSM3325252 c.70G>A p.E24K Substitution - Missense 9:126879481-126879481 + T1154 COSM4742129 c.955C>A p.R319S Substitution - Missense 9:126880366-126880366 + T3658 COSM4742128 c.515G>A p.R172Q Substitution - Missense 9:126879926-126879926 + sysucc-834T COSM5486704 c.1392C>T p.P464P Substitution - coding silent 9:126880803-126880803 + ESO-051 COSM1270712 c.1419G>A p.Q473Q Substitution - coding silent 9:126880830-126880830 + Au4 COSM5605376 c.497C>T p.P166L Substitution - Missense 9:126879908-126879908 + LP6005500-DNA_C01 COSM5952303 c.1051G>A p.G351R Substitution - Missense 9:126880462-126880462 + TCGA-AX-A05S-01 COSM1105247 c.1298G>A p.C433Y Substitution - Missense 9:126880709-126880709 + SNUH_G15_S1 COSM3685498 c.244C>G p.Q82E Substitution - Missense 9:126879655-126879655 + TCGA-AP-A051-01 COSM242298 c.1175G>A p.R392Q Substitution - Missense 9:126880586-126880586 + YUKAT COSM5410414 c.682G>A p.E228K Substitution - Missense 9:126880093-126880093 + BN24 COSM1624555 c.604C>T p.R202C Substitution - Missense 9:126880015-126880015 + SNU-C4 COSM3325261 c.526G>A p.A176T Substitution - Missense 9:126879937-126879937 + 8068585 COSM4148857 c.360G>A p.Q120Q Substitution - coding silent 9:126879771-126879771 + TCGA-EE-A2A2-06 COSM3654390 c.1313C>T p.P438L Substitution - Missense 9:126880724-126880724 + TCGA-D7-A4YY-01 COSM3325267 c.962G>A p.R321H Substitution - Missense 9:126880373-126880373 + LUAD-S01345 COSM397368 c.1449G>T p.E483D Substitution - Missense 9:126880860-126880860 + TCGA-B5-A11E-01 COSM1105238 c.696C>T p.T232T Substitution - coding silent 9:126880107-126880107 + HCC107T COSM1624554 c.97G>T p.D33Y Substitution - Missense 9:126879508-126879508 + TCGA-FW-A3R5-06 COSM3926177 c.55C>T p.L19L Substitution - coding silent 9:126879466-126879466 + TCGA-EJ-5504-01 COSM1132593 c.583C>T p.Q195* Substitution - Nonsense 9:126879994-126879994 + T3225 COSM4742127 c.448G>A p.G150R Substitution - Missense 9:126879859-126879859 + TCGA-CK-5916-01 COSM3699268 c.356C>T p.T119M Substitution - Missense 9:126879767-126879767 + TCGA-BR-A4QL-01 COSM3904161 c.404A>C p.D135A Substitution - Missense 9:126879815-126879815 + T204 COSM4742131 c.1014G>T p.V338V Substitution - coding silent 9:126880425-126880425 + Au5 COSM5606198 c.1077G>A p.R359R Substitution - coding silent 9:126880488-126880488 + 61 COSM5738737 c.1286G>A p.R429H Substitution - Missense 9:126880697-126880697 + WA52 COSM242297 c.827G>A p.G276D Substitution - Missense 9:126880238-126880238 + PD4266a COSM5784930 c.310A>T p.T104S Substitution - Missense 9:126879721-126879721 + B70-Tumor COSM1105228 c.417C>T p.V139V Substitution - coding silent 9:126879828-126879828 + sysucc-825T COSM5485313 c.778G>A p.E260K Substitution - Missense 9:126880189-126880189 + TCGA-BS-A0TE-01 COSM1105232 c.552G>A p.T184T Substitution - coding silent 9:126879963-126879963 +

Mutation - CGAP UNIGENE CYTOBAND OMIM SNP Hs.177633 9q33.3 611692

Mutation - IntOGen Mutated from(ref) Mutated to(alt) Consequence Type AA Mutation CDS Mutation Chr Pos Cancer A G 3-UTRSNV . c.1500+3312A>G 9 129646502 HC A G Missense p.K449E c.1345A>G 9 129643035 CM C A 3-UTRSNV . c.1500+2947C>A 9 129646137 HC C A Missense p.N149K c.447C>A 9 129642137 OV C - Frameshift p.Y285Ifs*18 c.852delC 9 129642541 CM C G Missense p.Q170E c.508C>G 9 129642198 BLCA C G Synonymous p.V139V c.417C>G 9 129642107 ESCA C T Missense p.H394Y c.1180C>T 9 129642870 CM C T Missense p.P438L c.1313C>T 9 129643003 CM C T Missense p.P55L c.164C>T 9 129641854 CM C T Missense p.S305F c.914C>T 9 129642604 CM C T Nonsense p.Q195* c.583C>T 9 129642273 PRAD C T Synonymous p.D254D c.762C>T 9 129642452 HNSC C T Synonymous p.F404F c.1212C>T 9 129642902 LUSC C T Synonymous p.L393L c.1179C>T 9 129642869 CM C T Synonymous p.S229S c.687C>T 9 129642377 NB G A Missense p.C433Y c.1298G>A 9 129642988 UCEC G A Synonymous p.L302L c.906G>A 9 129642596 ESCA G A Synonymous p.P367P c.1101G>A 9 129642791 STAD G A Synonymous p.Q473Q c.1419G>A 9 129643109 ESCA G A Synonymous p.T184T c.552G>A 9 129642242 UCEC G C Missense p.D33H c.97G>C 9 129641787 LUAD G C Missense p.E212Q c.634G>C 9 129642324 BLCA G C Missense p.K237N c.711G>C 9 129642401 LUAD T C Synonymous p.D133D c.399T>C 9 129642089 STAD T C Synonymous p.S355S c.1065T>C 9 129642755 HNSC T - Frameshift p.S164Lfs*52 c.490delT 9 129642180 CM T G Missense p.V471G c.1412T>G 9 129643102 GBM