Mutation - TCGA Type Chromosome Start Position End Position Strand Variant Classification Variant Type Reference Allele Tumor_seq Allele 1 Tumor_seq Allele 2 Tumor Sample Barcode Matched Norm Sample Barcode Genome Change cDNA Change Codon Change Protein Change BLCA 2 86992169 86992169 + Missense_Mutation SNP G G A TCGA-CF-A27C-01A-11D-A16O-08 TCGA-CF-A27C-10A-01D-A16O-08 g.chr2:86992169G>A c.541G>A c.(541-543)Gaa>Aaa p.E181K BLCA 2 86992260 86992260 + Missense_Mutation SNP G G A TCGA-CF-A27C-01A-11D-A16O-08 TCGA-CF-A27C-10A-01D-A16O-08 g.chr2:86992260G>A c.632G>A c.(631-633)cGa>cAa p.R211Q BLCA 2 86992262 86992262 + Missense_Mutation SNP G G A TCGA-ZF-A9RC-01A-11D-A38G-08 TCGA-ZF-A9RC-10A-01D-A38J-08 g.chr2:86992262G>A c.634G>A c.(634-636)Gag>Aag p.E212K BLCA 2 86992307 86992307 + Missense_Mutation SNP C C A TCGA-DK-A6AW-01A-11D-A30E-08 TCGA-DK-A6AW-10A-01D-A30H-08 g.chr2:86992307C>A c.679C>A c.(679-681)Cat>Aat p.H227N BRCA 2 86993036 86993036 + Missense_Mutation SNP C C T TCGA-BH-A0B6-01A-11D-A19Y-09 TCGA-BH-A0B6-10A-01D-A19Y-09 g.chr2:86993036C>T c.743C>T c.(742-744)tCa>tTa p.S248L BRCA 2 86993049 86993049 + Missense_Mutation SNP C C A TCGA-D8-A1JC-01A-11D-A13L-09 TCGA-D8-A1JC-10A-01D-A13O-09 g.chr2:86993049C>A c.756C>A c.(754-756)caC>caA p.H252Q COAD 2 86992259 86992259 + Nonsense_Mutation SNP C C T TCGA-AZ-6598-01A-11D-1771-10 TCGA-AZ-6598-11A-01D-1771-10 g.chr2:86992259C>T c.631C>T c.(631-633)Cga>Tga p.R211* COAD 2 86992260 86992260 + Missense_Mutation SNP G G A TCGA-CA-6718-01A-11D-1835-10 TCGA-CA-6718-10A-01D-1835-10 g.chr2:86992260G>A c.632G>A c.(631-633)cGa>cAa p.R211Q COAD 2 86993011 86993011 + Missense_Mutation SNP T T C TCGA-CA-6717-01A-11D-1835-10 TCGA-CA-6717-10A-01D-1835-10 g.chr2:86993011T>C c.718T>C c.(718-720)Tac>Cac p.Y240H COADREAD 2 86992259 86992259 + Nonsense_Mutation SNP C C T TCGA-AZ-6598-01A-11D-1771-10 TCGA-AZ-6598-11A-01D-1771-10 g.chr2:86992259C>T c.631C>T c.(631-633)Cga>Tga p.R211* COADREAD 2 86992260 86992260 + Missense_Mutation SNP G G A TCGA-CA-6718-01A-11D-1835-10 TCGA-CA-6718-10A-01D-1835-10 g.chr2:86992260G>A c.632G>A c.(631-633)cGa>cAa p.R211Q COADREAD 2 86993011 86993011 + Missense_Mutation SNP T T C TCGA-CA-6717-01A-11D-1835-10 TCGA-CA-6717-10A-01D-1835-10 g.chr2:86993011T>C c.718T>C c.(718-720)Tac>Cac p.Y240H ESCA 2 86980658 86980658 + Silent SNP C C T TCGA-R6-A6XQ-01B-11D-A33E-09 TCGA-R6-A6XQ-10A-01D-A33H-09 g.chr2:86980658C>T c.498C>T c.(496-498)gtC>gtT p.V166V ESCA 2 87000518 87000518 + Missense_Mutation SNP A A G TCGA-XP-A8T8-01A-11D-A36J-09 TCGA-XP-A8T8-10A-01D-A36M-09 g.chr2:87000518A>G c.1160A>G c.(1159-1161)aAa>aGa p.K387R GBM 2 86992995 86992995 + Silent SNP G G A TCGA-06-0648-01A-01W-0323-08 TCGA-06-0648-10A-01W-0323-08 g.chr2:86992995G>A c.702G>A c.(700-702)ttG>ttA p.L234L GBMLGG 2 86979116 86979116 + Missense_Mutation SNP G G A TCGA-DU-6392-01A-11D-1705-08 TCGA-DU-6392-10A-01D-1705-08 g.chr2:86979116G>A c.383G>A c.(382-384)cGa>cAa p.R128Q GBMLGG 2 86992995 86992995 + Silent SNP G G A TCGA-06-0648-01A-01W-0323-08 TCGA-06-0648-10A-01W-0323-08 g.chr2:86992995G>A c.702G>A c.(700-702)ttG>ttA p.L234L GBMLGG 2 86997171 86997171 + Missense_Mutation SNP C C T TCGA-DU-6392-01A-11D-1705-08 TCGA-DU-6392-10A-01D-1705-08 g.chr2:86997171C>T c.880C>T c.(880-882)Cca>Tca p.P294S HNSC 2 86947840 86947840 + Missense_Mutation SNP A A T TCGA-CV-5443-01A-01D-1512-08 TCGA-CV-5443-11A-01D-1512-08 g.chr2:86947840A>T c.50A>T c.(49-51)aAg>aTg p.K17M KICH 2 86993084 86993084 + Missense_Mutation SNP A A G TCGA-KN-8427-01A-11D-2310-10 TCGA-KN-8427-11A-01D-2311-10 g.chr2:86993084A>G c.791A>G c.(790-792)gAc>gGc p.D264G KIPAN 2 86968117 86968117 + Silent SNP T T C TCGA-G7-A8LB-01A-11D-A35Z-10 TCGA-G7-A8LB-10A-01D-A35Z-10 g.chr2:86968117T>C c.210T>C c.(208-210)gaT>gaC p.D70D KIPAN 2 86980658 86980658 + Silent SNP C C T TCGA-B0-5703-01A-11D-1534-10 TCGA-B0-5703-11A-01D-1534-10 g.chr2:86980658C>T c.498C>T c.(496-498)gtC>gtT p.V166V KIPAN 2 86993084 86993084 + Missense_Mutation SNP A A G TCGA-KN-8427-01A-11D-2310-10 TCGA-KN-8427-11A-01D-2311-10 g.chr2:86993084A>G c.791A>G c.(790-792)gAc>gGc p.D264G KIRC 2 86980658 86980658 + Silent SNP C C T TCGA-B0-5703-01A-11D-1534-10 TCGA-B0-5703-11A-01D-1534-10 g.chr2:86980658C>T c.498C>T c.(496-498)gtC>gtT p.V166V KIRP 2 86968117 86968117 + Silent SNP T T C TCGA-G7-A8LB-01A-11D-A35Z-10 TCGA-G7-A8LB-10A-01D-A35Z-10 g.chr2:86968117T>C c.210T>C c.(208-210)gaT>gaC p.D70D LGG 2 86979116 86979116 + Missense_Mutation SNP G G A TCGA-DU-6392-01A-11D-1705-08 TCGA-DU-6392-10A-01D-1705-08 g.chr2:86979116G>A c.383G>A c.(382-384)cGa>cAa p.R128Q LGG 2 86997171 86997171 + Missense_Mutation SNP C C T TCGA-DU-6392-01A-11D-1705-08 TCGA-DU-6392-10A-01D-1705-08 g.chr2:86997171C>T c.880C>T c.(880-882)Cca>Tca p.P294S LIHC 2 86992185 86992185 + Frame_Shift_Del DEL A A - TCGA-DD-A3A0-01A-11D-A20W-10 TCGA-DD-A3A0-11A-11D-A20W-10 g.chr2:86992185delA c.557delA c.(556-558)caafs p.Q186fs LUAD 2 86968121 86968121 + Missense_Mutation SNP G G C TCGA-L9-A443-01A-12D-A24D-08 TCGA-L9-A443-10A-01D-A24F-08 g.chr2:86968121G>C c.214G>C c.(214-216)Gtt>Ctt p.V72L LUAD 2 86992221 86992221 + Missense_Mutation SNP A A G TCGA-55-8506-01A-11D-2393-08 TCGA-55-8506-10A-01D-2393-08 g.chr2:86992221A>G c.593A>G c.(592-594)tAt>tGt p.Y198C LUAD 2 86992312 86992312 + Silent SNP A A G TCGA-55-1595-01A-01D-0969-08 TCGA-55-1595-11A-01D-0969-08 g.chr2:86992312A>G c.684A>G c.(682-684)caA>caG p.Q228Q LUAD 2 86998696 86998696 + Missense_Mutation SNP G G T TCGA-O1-A52J-01A-11D-A25L-08 TCGA-O1-A52J-10A-01D-A25L-08 g.chr2:86998696G>T c.973G>T c.(973-975)Ggt>Tgt p.G325C LUSC 2 86947815 86947815 + Missense_Mutation SNP C C T TCGA-33-4586-01A-01D-1441-08 TCGA-33-4586-11A-01D-1441-08 g.chr2:86947815C>T c.25C>T c.(25-27)Cgc>Tgc p.R9C LUSC 2 86980655 86980655 + Missense_Mutation SNP G G T TCGA-46-3768-01A-01D-0983-08 TCGA-46-3768-10A-01D-0983-08 g.chr2:86980655G>T c.495G>T c.(493-495)aaG>aaT p.K165N OV 2 86992174 86992174 + Missense_Mutation SNP G G C TCGA-13-0760-01A-01W-0372-09 TCGA-13-0760-10A-01W-0372-09 g.chr2:86992174G>C c.546G>C c.(544-546)atG>atC p.M182I OV 2 86997199 86997199 + Missense_Mutation SNP T T C TCGA-61-1740-01A-01W-0639-09 TCGA-61-1740-11A-01W-0639-09 g.chr2:86997199T>C c.908T>C c.(907-909)aTt>aCt p.I303T PAAD 2 87000470 87000470 + Splice_Site SNP G G A TCGA-IB-7651-01A-11D-2154-08 TCGA-IB-7651-10A-01D-2154-08 g.chr2:87000470G>A c.e9-1 SARC 2 86998741 86998741 + Missense_Mutation SNP C C T TCGA-QC-A7B5-01A-11D-A33E-09 TCGA-QC-A7B5-11A-11D-A33H-09 g.chr2:86998741C>T c.1018C>T c.(1018-1020)Cgt>Tgt p.R340C SKCM 2 86968106 86968106 + Missense_Mutation SNP A A G TCGA-D9-A6EC-06A-11D-A30X-08 TCGA-D9-A6EC-10A-01D-A30X-08 g.chr2:86968106A>G c.199A>G c.(199-201)Aga>Gga p.R67G SKCM 2 86979038 86979038 + Missense_Mutation SNP G G C TCGA-FS-A1ZS-06A-12D-A197-08 TCGA-FS-A1ZS-10A-01D-A199-08 g.chr2:86979038G>C c.305G>C c.(304-306)aGc>aCc p.S102T SKCM 2 86979111 86979111 + Silent SNP C C T TCGA-EE-A2MC-06A-12D-A197-08 TCGA-EE-A2MC-10A-01D-A199-08 g.chr2:86979111C>T c.378C>T c.(376-378)ttC>ttT p.F126F SKCM 2 86980590 86980590 + Missense_Mutation SNP C C T TCGA-FW-A3R5-06A-11D-A23B-08 TCGA-FW-A3R5-10A-01D-A23B-08 g.chr2:86980590C>T c.430C>T c.(430-432)Ctt>Ttt p.L144F

Mutation - ICGC Project Code Chromosome Chromosome Start Chromosome End Mutation Type Mutated from Allele Mutated to Allele Consequence Type AA Mutation CDS Mutation BLCA-US 2 86992169 86992169 single base substitution G A missense_variant E181K 541G>A BLCA-US 2 86992169 86992169 single base substitution G A upstream_gene_variant BLCA-US 2 86992260 86992260 single base substitution G A missense_variant R211Q 632G>A BLCA-US 2 86992260 86992260 single base substitution G A upstream_gene_variant BRCA-EU 2 86943061 86943061 single base substitution T C upstream_gene_variant BRCA-EU 2 86946221 86946221 single base substitution C T upstream_gene_variant BRCA-EU 2 86947110 86947110 single base substitution C T upstream_gene_variant BRCA-EU 2 86947633 86947633 single base substitution C T 5_prime_UTR_variant BRCA-EU 2 86947956 86947956 single base substitution C A intron_variant BRCA-EU 2 86948690 86948690 insertion of <=200bp - A intron_variant BRCA-EU 2 86948795 86948795 single base substitution C G intron_variant BRCA-EU 2 86949144 86949144 single base substitution A G intron_variant BRCA-EU 2 86953287 86953287 single base substitution A G intron_variant BRCA-EU 2 86968956 86968956 single base substitution G A intron_variant BRCA-EU 2 86971752 86971752 single base substitution C T intron_variant BRCA-EU 2 86971752 86971752 single base substitution C T upstream_gene_variant BRCA-EU 2 86972712 86972712 single base substitution T A intron_variant BRCA-EU 2 86972712 86972712 single base substitution T A upstream_gene_variant BRCA-EU 2 86974007 86974007 single base substitution G T intron_variant BRCA-EU 2 86974007 86974007 single base substitution G T upstream_gene_variant BRCA-EU 2 86974383 86974383 single base substitution G C intron_variant BRCA-EU 2 86974383 86974383 single base substitution G C upstream_gene_variant BRCA-EU 2 86975284 86975284 single base substitution C T intron_variant BRCA-EU 2 86975284 86975284 single base substitution C T upstream_gene_variant BRCA-EU 2 86977800 86977800 deletion of <=200bp T - intron_variant BRCA-EU 2 86981610 86981610 single base substitution A G downstream_gene_variant BRCA-EU 2 86981610 86981610 single base substitution A G intron_variant BRCA-EU 2 86982537 86982537 single base substitution G T downstream_gene_variant BRCA-EU 2 86982537 86982537 single base substitution G T intron_variant BRCA-EU 2 86984416 86984416 single base substitution T A downstream_gene_variant BRCA-EU 2 86984416 86984416 single base substitution T A intron_variant BRCA-EU 2 86986003 86986003 deletion of <=200bp T - intron_variant BRCA-EU 2 86986705 86986705 single base substitution T A intron_variant BRCA-EU 2 86987238 86987238 single base substitution G A intron_variant BRCA-EU 2 86987293 86987293 single base substitution G C intron_variant BRCA-EU 2 86987509 86987509 single base substitution C G intron_variant BRCA-EU 2 86987603 86987603 single base substitution C A intron_variant BRCA-EU 2 86987968 86987968 single base substitution T G intron_variant BRCA-EU 2 86987968 86987968 single base substitution T G upstream_gene_variant BRCA-EU 2 86989436 86989436 single base substitution C T intron_variant BRCA-EU 2 86989436 86989436 single base substitution C T upstream_gene_variant BRCA-EU 2 86989833 86989833 insertion of <=200bp - ATATATATATCAT intron_variant BRCA-EU 2 86989833 86989833 insertion of <=200bp - ATATATATATCAT upstream_gene_variant BRCA-EU 2 86990563 86990563 single base substitution A G intron_variant BRCA-EU 2 86990563 86990563 single base substitution A G upstream_gene_variant BRCA-EU 2 86991194 86991194 single base substitution C G intron_variant BRCA-EU 2 86991194 86991194 single base substitution C G upstream_gene_variant BRCA-EU 2 86992973 86992973 insertion of <=200bp - T intron_variant BRCA-EU 2 86994009 86994009 single base substitution A G intron_variant BRCA-EU 2 86994009 86994009 single base substitution A G upstream_gene_variant BRCA-EU 2 86994262 86994262 single base substitution C A intron_variant BRCA-EU 2 86994262 86994262 single base substitution C A upstream_gene_variant BRCA-EU 2 86995074 86995074 single base substitution G A intron_variant BRCA-EU 2 86995074 86995074 single base substitution G A upstream_gene_variant BRCA-EU 2 86995098 86995098 single base substitution G A intron_variant BRCA-EU 2 86995098 86995098 single base substitution G A upstream_gene_variant BRCA-EU 2 86995139 86995139 single base substitution C T intron_variant BRCA-EU 2 86995139 86995139 single base substitution C T upstream_gene_variant BRCA-EU 2 86996974 86996974 single base substitution T C intron_variant BRCA-EU 2 86996974 86996974 single base substitution T C upstream_gene_variant BRCA-EU 2 86997865 86997865 single base substitution G C intron_variant BRCA-EU 2 86997865 86997865 single base substitution G C upstream_gene_variant BRCA-EU 2 86999311 86999311 single base substitution G A intron_variant BRCA-EU 2 86999944 86999944 single base substitution C T intron_variant BRCA-EU 2 87003226 87003226 single base substitution C T 3_prime_UTR_variant BRCA-EU 2 87003226 87003226 single base substitution C T downstream_gene_variant BRCA-EU 2 87004031 87004031 single base substitution G T 3_prime_UTR_variant BRCA-EU 2 87004031 87004031 single base substitution G T downstream_gene_variant BRCA-EU 2 87004462 87004462 single base substitution G A 3_prime_UTR_variant BRCA-EU 2 87004462 87004462 single base substitution G A downstream_gene_variant BRCA-EU 2 87006536 87006536 single base substitution G T downstream_gene_variant BRCA-EU 2 87008190 87008190 single base substitution C T downstream_gene_variant BRCA-FR 2 86946221 86946221 single base substitution C T upstream_gene_variant BRCA-FR 2 86947633 86947633 single base substitution C T 5_prime_UTR_variant BRCA-FR 2 86953287 86953287 single base substitution A G intron_variant BRCA-FR 2 86994262 86994262 single base substitution C A intron_variant BRCA-FR 2 86994262 86994262 single base substitution C A upstream_gene_variant BRCA-FR 2 86996135 86996135 single base substitution C T intron_variant BRCA-FR 2 86996135 86996135 single base substitution C T upstream_gene_variant BRCA-FR 2 86996974 86996974 single base substitution T C intron_variant BRCA-FR 2 86996974 86996974 single base substitution T C upstream_gene_variant BRCA-FR 2 87004031 87004031 single base substitution G T 3_prime_UTR_variant BRCA-FR 2 87004031 87004031 single base substitution G T downstream_gene_variant BRCA-FR 2 87004462 87004462 single base substitution G A 3_prime_UTR_variant BRCA-FR 2 87004462 87004462 single base substitution G A downstream_gene_variant BRCA-FR 2 87007070 87007070 single base substitution G A downstream_gene_variant BRCA-UK 2 86987968 86987968 single base substitution T G intron_variant BRCA-UK 2 86987968 86987968 single base substitution T G upstream_gene_variant BRCA-UK 2 86989436 86989436 single base substitution C T intron_variant BRCA-UK 2 86989436 86989436 single base substitution C T upstream_gene_variant BRCA-UK 2 86995996 86995996 single base substitution G A intron_variant BRCA-UK 2 86995996 86995996 single base substitution G A upstream_gene_variant BRCA-UK 2 86997865 86997865 single base substitution G C intron_variant BRCA-UK 2 86997865 86997865 single base substitution G C upstream_gene_variant BRCA-UK 2 87001343 87001343 single base substitution G C 3_prime_UTR_variant BRCA-UK 2 87001343 87001343 single base substitution G C downstream_gene_variant BRCA-US 2 86993036 86993036 single base substitution C T exon_variant BRCA-US 2 86993036 86993036 single base substitution C T missense_variant S248L 743C>T BRCA-US 2 86993049 86993049 single base substitution C A exon_variant BRCA-US 2 86993049 86993049 single base substitution C A missense_variant H252Q 756C>A CLLE-ES 2 86971560 86971560 single base substitution T G intron_variant CLLE-ES 2 86971560 86971560 single base substitution T G upstream_gene_variant CLLE-ES 2 86986753 86986753 single base substitution A G intron_variant CLLE-ES 2 86988103 86988103 single base substitution G T intron_variant CLLE-ES 2 86988103 86988103 single base substitution G T upstream_gene_variant CLLE-ES 2 87004745 87004745 single base substitution T C 3_prime_UTR_variant CLLE-ES 2 87004745 87004745 single base substitution T C downstream_gene_variant CLLE-ES 2 87006061 87006061 single base substitution A T downstream_gene_variant COAD-US 2 86992259 86992259 single base substitution C T stop_gained R211* 631C>T COAD-US 2 86992259 86992259 single base substitution C T upstream_gene_variant COAD-US 2 86992260 86992260 single base substitution G A missense_variant R211Q 632G>A COAD-US 2 86992260 86992260 single base substitution G A upstream_gene_variant COAD-US 2 86993011 86993011 single base substitution T C exon_variant COAD-US 2 86993011 86993011 single base substitution T C missense_variant Y240H 718T>C COCA-CN 2 86968095 86968095 single base substitution A G missense_variant Q63R 188A>G COCA-CN 2 86968107 86968107 single base substitution G T missense_variant R67I 200G>T COCA-CN 2 86968207 86968207 single base substitution G T intron_variant COCA-CN 2 86992283 86992283 single base substitution A C missense_variant N219H 655A>C COCA-CN 2 86992283 86992283 single base substitution A C upstream_gene_variant EOPC-DE 2 86955291 86955291 single base substitution T G intron_variant ESAD-UK 2 86943739 86943739 single base substitution C T upstream_gene_variant ESAD-UK 2 86947095 86947095 deletion of <=200bp T - upstream_gene_variant ESAD-UK 2 86968039 86968039 insertion of <=200bp - T intron_variant ESAD-UK 2 86971246 86971246 single base substitution G A intron_variant ESAD-UK 2 86971246 86971246 single base substitution G A upstream_gene_variant ESAD-UK 2 86973087 86973087 insertion of <=200bp - A intron_variant ESAD-UK 2 86973087 86973087 insertion of <=200bp - A upstream_gene_variant ESAD-UK 2 86978054 86978054 single base substitution T G intron_variant ESAD-UK 2 86978078 86978078 single base substitution T C intron_variant ESAD-UK 2 86979492 86979492 single base substitution C T intron_variant ESAD-UK 2 86983380 86983380 single base substitution G C downstream_gene_variant ESAD-UK 2 86983380 86983380 single base substitution G C intron_variant ESAD-UK 2 86985486 86985486 single base substitution T A downstream_gene_variant ESAD-UK 2 86985486 86985486 single base substitution T A intron_variant ESAD-UK 2 86986338 86986338 single base substitution C A intron_variant ESAD-UK 2 86986689 86986689 single base substitution A T intron_variant ESAD-UK 2 86989552 86989552 single base substitution G A intron_variant ESAD-UK 2 86989552 86989552 single base substitution G A upstream_gene_variant ESAD-UK 2 86992535 86992535 single base substitution T G intron_variant ESAD-UK 2 86992535 86992535 single base substitution T G upstream_gene_variant ESAD-UK 2 86993614 86993614 single base substitution C T intron_variant ESAD-UK 2 86993614 86993614 single base substitution C T upstream_gene_variant ESAD-UK 2 86993961 86993961 single base substitution T A intron_variant ESAD-UK 2 86993961 86993961 single base substitution T A upstream_gene_variant ESAD-UK 2 86996891 86996891 single base substitution T C intron_variant ESAD-UK 2 86996891 86996891 single base substitution T C upstream_gene_variant ESAD-UK 2 86996907 86996907 single base substitution G A intron_variant ESAD-UK 2 86996907 86996907 single base substitution G A upstream_gene_variant ESAD-UK 2 86997167 86997167 single base substitution G A exon_variant ESAD-UK 2 86997167 86997167 single base substitution G A synonymous_variant A292A 876G>A ESAD-UK 2 86997167 86997167 single base substitution G A upstream_gene_variant ESAD-UK 2 86998788 86998788 single base substitution T A exon_variant ESAD-UK 2 86998788 86998788 single base substitution T A synonymous_variant G355G 1065T>A ESAD-UK 2 86999888 86999888 single base substitution T G intron_variant ESAD-UK 2 87004466 87004466 insertion of <=200bp - T 3_prime_UTR_variant ESAD-UK 2 87004466 87004466 insertion of <=200bp - T downstream_gene_variant ESAD-UK 2 87004481 87004481 single base substitution G A 3_prime_UTR_variant ESAD-UK 2 87004481 87004481 single base substitution G A downstream_gene_variant ESAD-UK 2 87007791 87007791 single base substitution T C downstream_gene_variant ESAD-UK 2 87007960 87007960 single base substitution A T downstream_gene_variant ESAD-UK 2 87009855 87009855 single base substitution T A downstream_gene_variant GBM-US 2 86992995 86992995 single base substitution G A exon_variant GBM-US 2 86992995 86992995 single base substitution G A synonymous_variant L234L 702G>A KIRC-US 2 86980658 86980658 single base substitution C T exon_variant KIRC-US 2 86980658 86980658 single base substitution C T synonymous_variant V166V 498C>T KIRP-US 2 86947925 86947925 single base substitution G A synonymous_variant Q45Q 135G>A LAML-KR 2 86943358 86943358 single base substitution T A upstream_gene_variant LAML-KR 2 86945708 86945708 single base substitution G A upstream_gene_variant LAML-KR 2 86951503 86951503 single base substitution G C intron_variant LAML-KR 2 86956376 86956376 single base substitution C T intron_variant LAML-KR 2 86961895 86961895 single base substitution A G intron_variant LAML-KR 2 86980488 86980488 single base substitution G T intron_variant LICA-FR 2 86942473 86942473 single base substitution A G upstream_gene_variant LICA-FR 2 86944035 86944035 single base substitution A C upstream_gene_variant LICA-FR 2 86944039 86944039 single base substitution A C upstream_gene_variant LICA-FR 2 86944606 86944606 single base substitution G A upstream_gene_variant LICA-FR 2 86968076 86968076 single base substitution C T missense_variant L57F 169C>T LICA-FR 2 86971101 86971101 insertion of <=200bp - A intron_variant LICA-FR 2 86971101 86971101 insertion of <=200bp - A upstream_gene_variant LICA-FR 2 86990466 86990466 single base substitution C G intron_variant LICA-FR 2 86990466 86990466 single base substitution C G upstream_gene_variant LICA-FR 2 86994633 86994633 single base substitution G A intron_variant LICA-FR 2 86994633 86994633 single base substitution G A upstream_gene_variant LINC-JP 2 86948717 86948717 single base substitution T C intron_variant LINC-JP 2 86951372 86951372 single base substitution C T intron_variant LINC-JP 2 86978901 86978901 single base substitution A G intron_variant LINC-JP 2 86987867 86987867 single base substitution A G intron_variant LINC-JP 2 86987867 86987867 single base substitution A G upstream_gene_variant LINC-JP 2 86997272 86997272 single base substitution A G intron_variant LINC-JP 2 86997272 86997272 single base substitution A G upstream_gene_variant LINC-JP 2 87003288 87003288 deletion of <=200bp G - 3_prime_UTR_variant LINC-JP 2 87003288 87003288 deletion of <=200bp G - downstream_gene_variant LIRI-JP 2 86971261 86971261 single base substitution A G intron_variant LIRI-JP 2 86971261 86971261 single base substitution A G upstream_gene_variant LIRI-JP 2 86974157 86974157 single base substitution T C intron_variant LIRI-JP 2 86974157 86974157 single base substitution T C upstream_gene_variant LIRI-JP 2 86974481 86974481 single base substitution C T intron_variant LIRI-JP 2 86974481 86974481 single base substitution C T upstream_gene_variant LIRI-JP 2 86976702 86976702 single base substitution G A intron_variant LIRI-JP 2 86979975 86979975 single base substitution A G intron_variant LIRI-JP 2 86980103 86980103 single base substitution A G intron_variant LIRI-JP 2 86980814 86980814 single base substitution T G downstream_gene_variant LIRI-JP 2 86980814 86980814 single base substitution T G intron_variant LIRI-JP 2 86981226 86981226 single base substitution C T downstream_gene_variant LIRI-JP 2 86981226 86981226 single base substitution C T intron_variant LIRI-JP 2 86983817 86983817 single base substitution A G downstream_gene_variant LIRI-JP 2 86983817 86983817 single base substitution A G intron_variant LIRI-JP 2 86987900 86987900 single base substitution C T intron_variant LIRI-JP 2 86987900 86987900 single base substitution C T upstream_gene_variant LIRI-JP 2 86988332 86988332 single base substitution A T intron_variant LIRI-JP 2 86988332 86988332 single base substitution A T upstream_gene_variant LIRI-JP 2 86989184 86989184 single base substitution C G intron_variant LIRI-JP 2 86989184 86989184 single base substitution C G upstream_gene_variant LIRI-JP 2 86991251 86991251 single base substitution A G intron_variant LIRI-JP 2 86991251 86991251 single base substitution A G upstream_gene_variant LIRI-JP 2 86991668 86991668 single base substitution G A intron_variant LIRI-JP 2 86991668 86991668 single base substitution G A upstream_gene_variant LIRI-JP 2 86992299 86992299 single base substitution C T missense_variant A224V 671C>T LIRI-JP 2 86992299 86992299 single base substitution C T upstream_gene_variant LIRI-JP 2 86994476 86994476 single base substitution G A intron_variant LIRI-JP 2 86994476 86994476 single base substitution G A upstream_gene_variant LIRI-JP 2 86995677 86995677 single base substitution T C intron_variant LIRI-JP 2 86995677 86995677 single base substitution T C upstream_gene_variant LIRI-JP 2 86996397 86996397 single base substitution T A intron_variant LIRI-JP 2 86996397 86996397 single base substitution T A upstream_gene_variant LIRI-JP 2 86996557 86996557 single base substitution G A intron_variant LIRI-JP 2 86996557 86996557 single base substitution G A upstream_gene_variant LIRI-JP 2 86997332 86997332 single base substitution C A intron_variant LIRI-JP 2 86997332 86997332 single base substitution C A upstream_gene_variant LIRI-JP 2 86999905 86999905 single base substitution A G intron_variant LIRI-JP 2 87000918 87000918 single base substitution A G 3_prime_UTR_variant LIRI-JP 2 87000918 87000918 single base substitution A G downstream_gene_variant LIRI-JP 2 87002006 87002006 single base substitution C T 3_prime_UTR_variant LIRI-JP 2 87002006 87002006 single base substitution C T downstream_gene_variant LIRI-JP 2 87002854 87002854 single base substitution A G 3_prime_UTR_variant LIRI-JP 2 87002854 87002854 single base substitution A G downstream_gene_variant LIRI-JP 2 87002903 87002903 single base substitution A T 3_prime_UTR_variant LIRI-JP 2 87002903 87002903 single base substitution A T downstream_gene_variant LIRI-JP 2 87006085 87006092 deletion of <=200bp GGCCAGGC - downstream_gene_variant LUSC-KR 2 86943694 86943694 single base substitution C T upstream_gene_variant LUSC-KR 2 86943982 86943982 single base substitution C G upstream_gene_variant LUSC-KR 2 86945708 86945708 single base substitution G A upstream_gene_variant LUSC-KR 2 86947138 86947138 single base substitution C A upstream_gene_variant LUSC-KR 2 86947907 86947907 single base substitution C G synonymous_variant L39L 117C>G LUSC-KR 2 86948717 86948717 single base substitution T C intron_variant LUSC-KR 2 86950686 86950686 single base substitution C G intron_variant LUSC-KR 2 86951187 86951187 single base substitution G A intron_variant LUSC-KR 2 86951503 86951503 single base substitution G C intron_variant LUSC-KR 2 86955895 86955895 single base substitution G T intron_variant LUSC-KR 2 86956376 86956376 single base substitution C T intron_variant LUSC-KR 2 86959584 86959584 single base substitution G A intron_variant LUSC-KR 2 86960021 86960021 single base substitution G T intron_variant LUSC-KR 2 86962184 86962184 single base substitution G A intron_variant LUSC-KR 2 86970069 86970069 single base substitution C G intron_variant LUSC-KR 2 86970967 86970967 single base substitution G T intron_variant LUSC-KR 2 86970967 86970967 single base substitution G T upstream_gene_variant LUSC-KR 2 86976501 86976501 single base substitution T C intron_variant LUSC-KR 2 86980425 86980425 single base substitution G A intron_variant LUSC-KR 2 86980488 86980488 single base substitution G T intron_variant LUSC-KR 2 86980559 86980559 single base substitution C A intron_variant LUSC-KR 2 86983019 86983019 single base substitution A T downstream_gene_variant LUSC-KR 2 86983019 86983019 single base substitution A T intron_variant LUSC-KR 2 86998258 86998258 single base substitution C A intron_variant LUSC-KR 2 86998258 86998258 single base substitution C A upstream_gene_variant LUSC-KR 2 87000341 87000341 single base substitution A G intron_variant LUSC-KR 2 87000995 87000995 single base substitution A T 3_prime_UTR_variant LUSC-KR 2 87000995 87000995 single base substitution A T downstream_gene_variant LUSC-KR 2 87003462 87003462 single base substitution A T 3_prime_UTR_variant LUSC-KR 2 87003462 87003462 single base substitution A T downstream_gene_variant LUSC-KR 2 87009741 87009741 single base substitution T C downstream_gene_variant LUSC-US 2 86947815 86947815 single base substitution C T missense_variant R9C 25C>T LUSC-US 2 86980655 86980655 single base substitution G T exon_variant LUSC-US 2 86980655 86980655 single base substitution G T missense_variant K165N 495G>T MALY-DE 2 86948733 86948733 deletion of <=200bp T - intron_variant MALY-DE 2 86956791 86956791 insertion of <=200bp - T intron_variant MALY-DE 2 86976505 86976505 single base substitution A T intron_variant MALY-DE 2 86993349 86993349 single base substitution A G intron_variant MELA-AU 2 86943250 86943250 single base substitution G A upstream_gene_variant MELA-AU 2 86943803 86943803 single base substitution G A upstream_gene_variant MELA-AU 2 86943945 86943945 single base substitution C T upstream_gene_variant MELA-AU 2 86943999 86943999 single base substitution G A upstream_gene_variant MELA-AU 2 86945076 86945076 single base substitution G A upstream_gene_variant MELA-AU 2 86945366 86945366 single base substitution G A upstream_gene_variant MELA-AU 2 86945432 86945432 single base substitution G A upstream_gene_variant MELA-AU 2 86945708 86945708 single base substitution G A upstream_gene_variant MELA-AU 2 86945717 86945717 single base substitution T C upstream_gene_variant MELA-AU 2 86946939 86946939 single base substitution A C upstream_gene_variant MELA-AU 2 86946954 86946954 single base substitution T G upstream_gene_variant MELA-AU 2 86948256 86948256 single base substitution C T intron_variant MELA-AU 2 86948716 86948717 multiple base substitution (>=2bp and <=200bp) GT AC intron_variant MELA-AU 2 86956083 86956083 single base substitution T C intron_variant MELA-AU 2 86956747 86956747 single base substitution G A intron_variant MELA-AU 2 86961879 86961879 single base substitution C T intron_variant MELA-AU 2 86962248 86962248 single base substitution C T intron_variant MELA-AU 2 86965634 86965634 single base substitution C T intron_variant MELA-AU 2 86968490 86968490 single base substitution C T intron_variant MELA-AU 2 86969757 86969757 single base substitution C T intron_variant MELA-AU 2 86971216 86971216 single base substitution C T intron_variant MELA-AU 2 86971216 86971216 single base substitution C T upstream_gene_variant MELA-AU 2 86971292 86971292 single base substitution C T intron_variant MELA-AU 2 86971292 86971292 single base substitution C T upstream_gene_variant MELA-AU 2 86971346 86971346 single base substitution C T intron_variant MELA-AU 2 86971346 86971346 single base substitution C T upstream_gene_variant MELA-AU 2 86971371 86971371 single base substitution T C intron_variant MELA-AU 2 86971371 86971371 single base substitution T C upstream_gene_variant MELA-AU 2 86971555 86971555 single base substitution G A intron_variant MELA-AU 2 86971555 86971555 single base substitution G A upstream_gene_variant MELA-AU 2 86972053 86972053 single base substitution C T intron_variant MELA-AU 2 86972053 86972053 single base substitution C T upstream_gene_variant MELA-AU 2 86973407 86973407 single base substitution C T intron_variant MELA-AU 2 86973407 86973407 single base substitution C T upstream_gene_variant MELA-AU 2 86973544 86973544 single base substitution A C intron_variant MELA-AU 2 86973544 86973544 single base substitution A C upstream_gene_variant MELA-AU 2 86974032 86974032 single base substitution C T intron_variant MELA-AU 2 86974032 86974032 single base substitution C T upstream_gene_variant MELA-AU 2 86974232 86974232 single base substitution T C intron_variant MELA-AU 2 86974232 86974232 single base substitution T C upstream_gene_variant MELA-AU 2 86974273 86974273 single base substitution C A intron_variant MELA-AU 2 86974273 86974273 single base substitution C A upstream_gene_variant MELA-AU 2 86974584 86974584 single base substitution C T intron_variant MELA-AU 2 86974584 86974584 single base substitution C T upstream_gene_variant MELA-AU 2 86974769 86974769 single base substitution G A intron_variant MELA-AU 2 86974769 86974769 single base substitution G A upstream_gene_variant MELA-AU 2 86975347 86975347 single base substitution C T intron_variant MELA-AU 2 86975347 86975347 single base substitution C T upstream_gene_variant MELA-AU 2 86975698 86975698 single base substitution T G intron_variant MELA-AU 2 86975886 86975886 single base substitution C T intron_variant MELA-AU 2 86975994 86975994 single base substitution G T intron_variant MELA-AU 2 86976095 86976095 single base substitution T C intron_variant MELA-AU 2 86976167 86976167 single base substitution C T intron_variant MELA-AU 2 86976772 86976772 single base substitution C T intron_variant MELA-AU 2 86976812 86976812 single base substitution C T intron_variant MELA-AU 2 86977444 86977445 multiple base substitution (>=2bp and <=200bp) CC TT intron_variant MELA-AU 2 86977613 86977613 single base substitution C T intron_variant MELA-AU 2 86978035 86978035 single base substitution C T intron_variant MELA-AU 2 86978364 86978364 single base substitution T C intron_variant MELA-AU 2 86978452 86978452 single base substitution C T intron_variant MELA-AU 2 86978997 86978997 single base substitution C T intron_variant MELA-AU 2 86979014 86979014 single base substitution C T splice_region_variant MELA-AU 2 86979253 86979253 single base substitution T C intron_variant MELA-AU 2 86979512 86979512 single base substitution C T intron_variant MELA-AU 2 86979688 86979688 single base substitution C A intron_variant MELA-AU 2 86980150 86980150 single base substitution C T intron_variant MELA-AU 2 86980328 86980328 single base substitution C T intron_variant MELA-AU 2 86980403 86980403 single base substitution G A intron_variant MELA-AU 2 86981502 86981502 single base substitution G C downstream_gene_variant MELA-AU 2 86981502 86981502 single base substitution G C intron_variant MELA-AU 2 86982753 86982753 single base substitution T C downstream_gene_variant MELA-AU 2 86982753 86982753 single base substitution T C intron_variant MELA-AU 2 86982853 86982853 single base substitution C T downstream_gene_variant MELA-AU 2 86982853 86982853 single base substitution C T intron_variant MELA-AU 2 86983312 86983312 single base substitution C T downstream_gene_variant MELA-AU 2 86983312 86983312 single base substitution C T intron_variant MELA-AU 2 86983494 86983494 single base substitution C T downstream_gene_variant MELA-AU 2 86983494 86983494 single base substitution C T intron_variant MELA-AU 2 86983711 86983711 single base substitution C T downstream_gene_variant MELA-AU 2 86983711 86983711 single base substitution C T intron_variant MELA-AU 2 86984545 86984545 single base substitution G T downstream_gene_variant MELA-AU 2 86984545 86984545 single base substitution G T intron_variant MELA-AU 2 86985194 86985194 single base substitution C T downstream_gene_variant MELA-AU 2 86985194 86985194 single base substitution C T intron_variant MELA-AU 2 86987002 86987002 single base substitution C T intron_variant MELA-AU 2 86987317 86987317 single base substitution G A intron_variant MELA-AU 2 86987370 86987370 single base substitution T C intron_variant MELA-AU 2 86987418 86987418 single base substitution C T intron_variant MELA-AU 2 86987745 86987745 single base substitution A G intron_variant MELA-AU 2 86987745 86987745 single base substitution A G upstream_gene_variant MELA-AU 2 86988088 86988088 single base substitution A T intron_variant MELA-AU 2 86988088 86988088 single base substitution A T upstream_gene_variant MELA-AU 2 86988222 86988222 single base substitution T G intron_variant MELA-AU 2 86988222 86988222 single base substitution T G upstream_gene_variant MELA-AU 2 86989700 86989700 single base substitution G A intron_variant MELA-AU 2 86989700 86989700 single base substitution G A upstream_gene_variant MELA-AU 2 86990221 86990221 single base substitution C T intron_variant MELA-AU 2 86990221 86990221 single base substitution C T upstream_gene_variant MELA-AU 2 86990806 86990806 single base substitution G A intron_variant MELA-AU 2 86990806 86990806 single base substitution G A upstream_gene_variant MELA-AU 2 86991409 86991409 single base substitution C T intron_variant MELA-AU 2 86991409 86991409 single base substitution C T upstream_gene_variant MELA-AU 2 86991672 86991672 single base substitution C T intron_variant MELA-AU 2 86991672 86991672 single base substitution C T upstream_gene_variant MELA-AU 2 86991760 86991760 single base substitution T A intron_variant MELA-AU 2 86991760 86991760 single base substitution T A upstream_gene_variant MELA-AU 2 86992584 86992584 single base substitution C T intron_variant MELA-AU 2 86992584 86992584 single base substitution C T upstream_gene_variant MELA-AU 2 86992675 86992675 single base substitution A T exon_variant MELA-AU 2 86992675 86992675 single base substitution A T intron_variant MELA-AU 2 86992794 86992794 single base substitution T G intron_variant MELA-AU 2 86992975 86992975 single base substitution T C splice_region_variant MELA-AU 2 86993201 86993201 single base substitution C T intron_variant MELA-AU 2 86993859 86993859 single base substitution C T intron_variant MELA-AU 2 86993859 86993859 single base substitution C T upstream_gene_variant MELA-AU 2 86993891 86993891 single base substitution C T intron_variant MELA-AU 2 86993891 86993891 single base substitution C T upstream_gene_variant MELA-AU 2 86994066 86994066 single base substitution A T intron_variant MELA-AU 2 86994066 86994066 single base substitution A T upstream_gene_variant MELA-AU 2 86994227 86994227 single base substitution C T intron_variant MELA-AU 2 86994227 86994227 single base substitution C T upstream_gene_variant MELA-AU 2 86994332 86994332 single base substitution G A intron_variant MELA-AU 2 86994332 86994332 single base substitution G A upstream_gene_variant MELA-AU 2 86994394 86994394 single base substitution C T intron_variant MELA-AU 2 86994394 86994394 single base substitution C T upstream_gene_variant MELA-AU 2 86994551 86994551 single base substitution T A intron_variant MELA-AU 2 86994551 86994551 single base substitution T A upstream_gene_variant MELA-AU 2 86994669 86994669 single base substitution G A intron_variant MELA-AU 2 86994669 86994669 single base substitution G A upstream_gene_variant MELA-AU 2 86995710 86995710 single base substitution G A intron_variant MELA-AU 2 86995710 86995710 single base substitution G A upstream_gene_variant MELA-AU 2 86995823 86995823 single base substitution C T intron_variant MELA-AU 2 86995823 86995823 single base substitution C T upstream_gene_variant MELA-AU 2 86996275 86996275 single base substitution C T intron_variant MELA-AU 2 86996275 86996275 single base substitution C T upstream_gene_variant MELA-AU 2 86997282 86997282 single base substitution A T intron_variant MELA-AU 2 86997282 86997282 single base substitution A T upstream_gene_variant MELA-AU 2 86997842 86997842 single base substitution C T intron_variant MELA-AU 2 86997842 86997842 single base substitution C T upstream_gene_variant MELA-AU 2 86998123 86998124 multiple base substitution (>=2bp and <=200bp) CC TT intron_variant MELA-AU 2 86998123 86998124 multiple base substitution (>=2bp and <=200bp) CC TT upstream_gene_variant MELA-AU 2 86999248 86999248 single base substitution C T intron_variant MELA-AU 2 86999402 86999402 single base substitution C T intron_variant MELA-AU 2 86999465 86999465 single base substitution T C intron_variant MELA-AU 2 86999725 86999725 single base substitution T A intron_variant MELA-AU 2 86999827 86999827 single base substitution C T intron_variant MELA-AU 2 86999937 86999937 single base substitution C T intron_variant MELA-AU 2 87000004 87000004 single base substitution A G intron_variant MELA-AU 2 87000142 87000142 single base substitution T A intron_variant MELA-AU 2 87000214 87000214 single base substitution C T intron_variant MELA-AU 2 87000240 87000240 single base substitution A C intron_variant MELA-AU 2 87000288 87000288 single base substitution C T intron_variant MELA-AU 2 87000330 87000330 single base substitution C T intron_variant MELA-AU 2 87000447 87000447 single base substitution C T intron_variant MELA-AU 2 87000499 87000499 single base substitution C T exon_variant MELA-AU 2 87000499 87000499 single base substitution C T stop_gained Q381* 1141C>T MELA-AU 2 87000588 87000588 single base substitution C T 3_prime_UTR_variant MELA-AU 2 87000588 87000588 single base substitution C T downstream_gene_variant MELA-AU 2 87000588 87000588 single base substitution C T exon_variant MELA-AU 2 87000603 87000603 single base substitution C T 3_prime_UTR_variant MELA-AU 2 87000603 87000603 single base substitution C T downstream_gene_variant MELA-AU 2 87000603 87000603 single base substitution C T exon_variant MELA-AU 2 87001211 87001211 single base substitution T G 3_prime_UTR_variant MELA-AU 2 87001211 87001211 single base substitution T G downstream_gene_variant MELA-AU 2 87003341 87003341 single base substitution C T 3_prime_UTR_variant MELA-AU 2 87003341 87003341 single base substitution C T downstream_gene_variant MELA-AU 2 87003664 87003664 single base substitution C T 3_prime_UTR_variant MELA-AU 2 87003664 87003664 single base substitution C T downstream_gene_variant MELA-AU 2 87003926 87003926 single base substitution C G 3_prime_UTR_variant MELA-AU 2 87003926 87003926 single base substitution C G downstream_gene_variant MELA-AU 2 87004087 87004087 single base substitution G A 3_prime_UTR_variant MELA-AU 2 87004087 87004087 single base substitution G A downstream_gene_variant MELA-AU 2 87005120 87005120 single base substitution C T 3_prime_UTR_variant MELA-AU 2 87005120 87005120 single base substitution C T downstream_gene_variant MELA-AU 2 87005572 87005572 single base substitution C T downstream_gene_variant MELA-AU 2 87005586 87005586 single base substitution C T downstream_gene_variant MELA-AU 2 87005680 87005680 single base substitution C T downstream_gene_variant MELA-AU 2 87005690 87005690 single base substitution G A downstream_gene_variant MELA-AU 2 87005845 87005845 single base substitution G A downstream_gene_variant MELA-AU 2 87006406 87006406 single base substitution T G downstream_gene_variant MELA-AU 2 87006583 87006583 single base substitution A G downstream_gene_variant MELA-AU 2 87008534 87008534 single base substitution G A downstream_gene_variant MELA-AU 2 87008733 87008733 single base substitution C T downstream_gene_variant MELA-AU 2 87008847 87008847 single base substitution G A downstream_gene_variant MELA-AU 2 87009318 87009318 single base substitution C T downstream_gene_variant MELA-AU 2 87009511 87009511 single base substitution C T downstream_gene_variant MELA-AU 2 87009543 87009543 single base substitution C T downstream_gene_variant MELA-AU 2 87009601 87009601 single base substitution G A downstream_gene_variant MELA-AU 2 87009810 87009810 single base substitution C T downstream_gene_variant MELA-AU 2 87009813 87009813 single base substitution C T downstream_gene_variant MELA-AU 2 87010040 87010040 single base substitution G A downstream_gene_variant ORCA-IN 2 86956376 86956376 single base substitution C T intron_variant OV-AU 2 86952799 86952799 single base substitution C A intron_variant OV-AU 2 86971507 86971507 single base substitution G T intron_variant OV-AU 2 86971507 86971507 single base substitution G T upstream_gene_variant OV-AU 2 86975655 86975655 single base substitution C T intron_variant OV-AU 2 86982722 86982722 single base substitution T A downstream_gene_variant OV-AU 2 86982722 86982722 single base substitution T A intron_variant OV-AU 2 86983027 86983027 single base substitution C T downstream_gene_variant OV-AU 2 86983027 86983027 single base substitution C T intron_variant OV-AU 2 86986273 86986273 single base substitution A C intron_variant OV-AU 2 86994170 86994170 single base substitution T A intron_variant OV-AU 2 86994170 86994170 single base substitution T A upstream_gene_variant OV-US 2 86992174 86992174 single base substitution G C missense_variant M182I 546G>C OV-US 2 86992174 86992174 single base substitution G C upstream_gene_variant PACA-AU 2 86943560 86943560 single base substitution G T upstream_gene_variant PACA-AU 2 86959468 86959468 single base substitution C T intron_variant PACA-AU 2 86970163 86970163 deletion of <=200bp T - intron_variant PACA-AU 2 86971115 86971115 single base substitution A C intron_variant PACA-AU 2 86971115 86971115 single base substitution A C upstream_gene_variant PACA-AU 2 86978967 86978967 single base substitution A C intron_variant PACA-AU 2 86979249 86979249 single base substitution G A intron_variant PACA-AU 2 86979477 86979477 single base substitution A T intron_variant PACA-AU 2 86981861 86981861 single base substitution T G downstream_gene_variant PACA-AU 2 86981861 86981861 single base substitution T G intron_variant PACA-AU 2 86990302 86990302 single base substitution A T intron_variant PACA-AU 2 86990302 86990302 single base substitution A T upstream_gene_variant PACA-AU 2 87001606 87001606 single base substitution G A 3_prime_UTR_variant PACA-AU 2 87001606 87001606 single base substitution G A downstream_gene_variant PACA-CA 2 86943311 86943311 single base substitution C A upstream_gene_variant PACA-CA 2 86943377 86943377 single base substitution C T upstream_gene_variant PACA-CA 2 86945708 86945708 single base substitution G A upstream_gene_variant PACA-CA 2 86948716 86948716 single base substitution G A intron_variant PACA-CA 2 86948717 86948717 single base substitution T C intron_variant PACA-CA 2 86948795 86948795 single base substitution C G intron_variant PACA-CA 2 86956389 86956389 single base substitution A G intron_variant PACA-CA 2 86964809 86964809 single base substitution T C intron_variant PACA-CA 2 86968593 86968593 single base substitution C G intron_variant PACA-CA 2 86971003 86971003 single base substitution A C intron_variant PACA-CA 2 86971003 86971003 single base substitution A C upstream_gene_variant PACA-CA 2 86973199 86973199 deletion of <=200bp A - intron_variant PACA-CA 2 86973199 86973199 deletion of <=200bp A - upstream_gene_variant PACA-CA 2 86976967 86976967 single base substitution A G intron_variant PACA-CA 2 86979093 86979093 single base substitution G A exon_variant PACA-CA 2 86979093 86979093 single base substitution G A synonymous_variant E120E 360G>A PACA-CA 2 86983313 86983313 single base substitution G A downstream_gene_variant PACA-CA 2 86983313 86983313 single base substitution G A intron_variant PACA-CA 2 86984341 86984341 single base substitution C A downstream_gene_variant PACA-CA 2 86984341 86984341 single base substitution C A intron_variant PACA-CA 2 86985211 86985211 single base substitution C G downstream_gene_variant PACA-CA 2 86985211 86985211 single base substitution C G intron_variant PACA-CA 2 86989787 86989787 single base substitution T A intron_variant PACA-CA 2 86989787 86989787 single base substitution T A upstream_gene_variant PACA-CA 2 86993062 86993062 single base substitution A G exon_variant PACA-CA 2 86993062 86993062 single base substitution A G missense_variant N257D 769A>G PACA-CA 2 86998022 86998022 single base substitution G A intron_variant PACA-CA 2 86998022 86998022 single base substitution G A upstream_gene_variant PACA-CA 2 87010043 87010043 single base substitution C A downstream_gene_variant PAEN-AU 2 86984648 86984651 deletion of <=200bp AGAA - downstream_gene_variant PAEN-AU 2 86984648 86984651 deletion of <=200bp AGAA - intron_variant PAEN-AU 2 86995993 86995993 single base substitution G A intron_variant PAEN-AU 2 86995993 86995993 single base substitution G A upstream_gene_variant PBCA-DE 2 86945372 86945372 insertion of <=200bp - A upstream_gene_variant PBCA-DE 2 86946767 86946767 deletion of <=200bp C - upstream_gene_variant PBCA-DE 2 86955288 86955289 deletion of <=200bp AC - intron_variant PBCA-DE 2 86978791 86978791 single base substitution A G intron_variant PBCA-DE 2 86987661 86987661 single base substitution G A intron_variant PBCA-DE 2 86987661 86987661 single base substitution G A upstream_gene_variant PBCA-DE 2 86996802 86996802 insertion of <=200bp - T intron_variant PBCA-DE 2 86996802 86996802 insertion of <=200bp - T upstream_gene_variant PBCA-DE 2 87002488 87002488 single base substitution A T 3_prime_UTR_variant PBCA-DE 2 87002488 87002488 single base substitution A T downstream_gene_variant PBCA-DE 2 87009712 87009712 single base substitution T G downstream_gene_variant PRAD-CA 2 86992656 86992656 single base substitution A G exon_variant PRAD-CA 2 86992656 86992656 single base substitution A G intron_variant PRAD-CA 2 86998414 86998414 single base substitution C A intron_variant PRAD-CA 2 86998414 86998414 single base substitution C A upstream_gene_variant PRAD-UK 2 86943045 86943045 single base substitution T C upstream_gene_variant PRAD-UK 2 86944075 86944075 single base substitution C T upstream_gene_variant PRAD-UK 2 86947324 86947324 single base substitution G C 5_prime_UTR_variant PRAD-UK 2 86948095 86948095 single base substitution T A intron_variant PRAD-UK 2 86948299 86948299 single base substitution C T intron_variant PRAD-UK 2 86986154 86986154 single base substitution C T intron_variant PRAD-UK 2 87001735 87001735 single base substitution G A 3_prime_UTR_variant PRAD-UK 2 87001735 87001735 single base substitution G A downstream_gene_variant PRAD-UK 2 87008415 87008415 single base substitution C T downstream_gene_variant RECA-EU 2 86969612 86969612 single base substitution C A intron_variant RECA-EU 2 86972425 86972425 single base substitution T A intron_variant RECA-EU 2 86972425 86972425 single base substitution T A upstream_gene_variant RECA-EU 2 86975160 86975160 single base substitution A C intron_variant RECA-EU 2 86975160 86975160 single base substitution A C upstream_gene_variant RECA-EU 2 86976640 86976640 single base substitution A G intron_variant RECA-EU 2 86978672 86978672 single base substitution A T intron_variant RECA-EU 2 86993173 86993173 single base substitution T C intron_variant RECA-EU 2 87003184 87003184 single base substitution T G 3_prime_UTR_variant RECA-EU 2 87003184 87003184 single base substitution T G downstream_gene_variant RECA-EU 2 87005679 87005679 single base substitution C T downstream_gene_variant SKCA-BR 2 86942473 86942473 single base substitution A G upstream_gene_variant SKCA-BR 2 86945155 86945155 single base substitution A G upstream_gene_variant SKCA-BR 2 86945736 86945737 deletion of <=200bp AT - upstream_gene_variant SKCA-BR 2 86945785 86945785 single base substitution G A upstream_gene_variant SKCA-BR 2 86945798 86945798 single base substitution T G upstream_gene_variant SKCA-BR 2 86946794 86946795 deletion of <=200bp AT - upstream_gene_variant SKCA-BR 2 86947638 86947638 single base substitution G C 5_prime_UTR_variant SKCA-BR 2 86948525 86948525 single base substitution T A intron_variant SKCA-BR 2 86953691 86953691 single base substitution A G intron_variant SKCA-BR 2 86955287 86955289 deletion of <=200bp AAC - intron_variant SKCA-BR 2 86959468 86959468 single base substitution C T intron_variant SKCA-BR 2 86969809 86969809 single base substitution T G intron_variant SKCA-BR 2 86976364 86976364 single base substitution A G intron_variant SKCA-BR 2 86976661 86976661 single base substitution C T intron_variant SKCA-BR 2 86978438 86978438 single base substitution G A intron_variant SKCA-BR 2 86978956 86978956 single base substitution T A intron_variant SKCA-BR 2 86979358 86979358 single base substitution C T intron_variant SKCA-BR 2 86986743 86986743 single base substitution G A intron_variant SKCA-BR 2 86989741 86989741 single base substitution C T intron_variant SKCA-BR 2 86989741 86989741 single base substitution C T upstream_gene_variant SKCA-BR 2 86993784 86993791 deletion of <=200bp CAAAAAAA - intron_variant SKCA-BR 2 86993784 86993791 deletion of <=200bp CAAAAAAA - upstream_gene_variant SKCA-BR 2 86997188 86997188 single base substitution C T exon_variant SKCA-BR 2 86997188 86997188 single base substitution C T synonymous_variant I299I 897C>T SKCA-BR 2 86997188 86997188 single base substitution C T upstream_gene_variant SKCA-BR 2 87002448 87002451 deletion of <=200bp TTTC - 3_prime_UTR_variant SKCA-BR 2 87002448 87002451 deletion of <=200bp TTTC - downstream_gene_variant SKCA-BR 2 87004071 87004071 single base substitution T G 3_prime_UTR_variant SKCA-BR 2 87004071 87004071 single base substitution T G downstream_gene_variant SKCA-BR 2 87004512 87004512 single base substitution A G 3_prime_UTR_variant SKCA-BR 2 87004512 87004512 single base substitution A G downstream_gene_variant SKCA-BR 2 87005666 87005666 single base substitution C T downstream_gene_variant SKCA-BR 2 87006328 87006328 single base substitution T G downstream_gene_variant SKCA-BR 2 87006398 87006398 single base substitution T A downstream_gene_variant SKCA-BR 2 87008222 87008222 single base substitution C T downstream_gene_variant SKCM-US 2 86968106 86968106 single base substitution A G missense_variant R67G 199A>G SKCM-US 2 86979038 86979038 single base substitution G C exon_variant SKCM-US 2 86979038 86979038 single base substitution G C missense_variant S102T 305G>C SKCM-US 2 86979111 86979111 single base substitution C T exon_variant SKCM-US 2 86979111 86979111 single base substitution C T synonymous_variant F126F 378C>T SKCM-US 2 86980590 86980590 single base substitution C T exon_variant SKCM-US 2 86980590 86980590 single base substitution C T missense_variant L144F 430C>T STAD-US 2 86992214 86992214 single base substitution A G missense_variant R196G 586A>G STAD-US 2 86992214 86992214 single base substitution A G upstream_gene_variant STAD-US 2 86993070 86993070 single base substitution G A exon_variant STAD-US 2 86993070 86993070 single base substitution G A stop_gained W259* 777G>A STAD-US 2 86998770 86998770 single base substitution C T exon_variant STAD-US 2 86998770 86998770 single base substitution C T synonymous_variant P349P 1047C>T STAD-US 2 87000484 87000484 single base substitution T C exon_variant STAD-US 2 87000484 87000484 single base substitution T C missense_variant Y376H 1126T>C THCA-SA 2 87003846 87003846 single base substitution C A 3_prime_UTR_variant THCA-SA 2 87003846 87003846 single base substitution C A downstream_gene_variant UCEC-US 2 86968107 86968107 single base substitution G T missense_variant R67I 200G>T UCEC-US 2 86979111 86979111 single base substitution C A exon_variant UCEC-US 2 86979111 86979111 single base substitution C A missense_variant F126L 378C>A UCEC-US 2 86997177 86997180 deletion of <=200bp TTAA - exon_variant UCEC-US 2 86997177 86997180 deletion of <=200bp TTAA - frameshift_variant LI296 UCEC-US 2 86997177 86997180 deletion of <=200bp TTAA - upstream_gene_variant UCEC-US 2 87000524 87000524 single base substitution T C exon_variant UCEC-US 2 87000524 87000524 single base substitution T C missense_variant I389T 1166T>C

Mutation - COSMIC Sample Name Mutation ID Mutation CDS Mutation AA Mutation Description Mutation Genome Position Mutation Strand ESCC_72 COSM5634325 c.737A>G p.E246G Substitution - Missense 2:86765907-86765907 + H1155 COSM1195189 c.1019G>A p.R340H Substitution - Missense 2:86771619-86771619 + 11M COSM5577003 c.830C>T p.S277F Substitution - Missense 2:86766000-86766000 + 587332 COSM1223849 c.956C>A p.P319H Substitution - Missense 2:86770124-86770124 + HN_62686 COSM125886 c.662A>G p.Q221R Substitution - Missense 2:86765167-86765167 + 587376 COSM1223850 c.543A>C p.E181D Substitution - Missense 2:86765048-86765048 + 587376 COSM1223851 c.1094A>C p.K365T Substitution - Missense 2:86771694-86771694 + CHC433T COSM217258 c.169C>T p.L57F Substitution - Missense 2:86740953-86740953 + sysucc-1317T COSM5449761 c.188A>G p.Q63R Substitution - Missense 2:86740972-86740972 + LIM2551 COSM4644464 c.1028C>T p.T343I Substitution - Missense 2:86771628-86771628 + T578 COSM1307072 c.632G>A p.R211Q Substitution - Missense 2:86765137-86765137 + WA48 COSM238101 c.723G>A p.L241L Substitution - coding silent 2:86765893-86765893 + TCGA-D9-A6EC-06 COSM4406034 c.199A>G p.R67G Substitution - Missense 2:86740983-86740983 + YUAKER COSM1690765 c.796T>C p.F266L Substitution - Missense 2:86765966-86765966 + TCGA-BR-4362-01 COSM4096153 c.1126T>C p.Y376H Substitution - Missense 2:86773361-86773361 + LUAD-S01356 COSM398203 c.861A>T p.S287S Substitution - coding silent 2:86770029-86770029 + TCGA-FW-A3R5-06 COSM3910741 c.430C>T p.L144F Substitution - Missense 2:86753467-86753467 + TCGA-AZ-6598-01 COSM1409856 c.631C>T p.R211* Substitution - Nonsense 2:86765136-86765136 + TCGA-CA-6717-01 COSM1409857 c.718T>C p.Y240H Substitution - Missense 2:86765888-86765888 + cSCCP6 COSM136260 c.1150G>A p.G384R Substitution - Missense 2:86773385-86773385 + TCGA-BG-A0VZ-01 COSM1023530 c.886_889delTTAA p.I297fs*5 Deletion - Frameshift 2:86770054-86770057 + T1764 COSM4721894 c.495G>A p.K165K Substitution - coding silent 2:86753532-86753532 + PTC-14C COSM4133967 c.993C>T p.H331H Substitution - coding silent 2:86771593-86771593 + TCGA-D8-A1JC-01 COSM1483334 c.756C>A p.H252Q Substitution - Missense 2:86765926-86765926 + CHC433T COSM217258 c.169C>T p.L57F Substitution - Missense 2:86740953-86740953 + TCGA-AX-A05Z-01 COSM1023529 c.378C>A p.F126L Substitution - Missense 2:86751988-86751988 + TCGA-61-1740-01 COSM1326932 c.908T>C p.I303T Substitution - Missense 2:86770076-86770076 + T55 COSM2823251 c.847A>G p.S283G Substitution - Missense 2:86766017-86766017 + TCGA-EE-A2MC-06 COSM3910740 c.378C>T p.F126F Substitution - coding silent 2:86751988-86751988 + ESCC_116 COSM5639893 c.580C>G p.L194V Substitution - Missense 2:86765085-86765085 + TCGA-CF-A27C-01 COSM1307071 c.541G>A p.E181K Substitution - Missense 2:86765046-86765046 + sysucc-311T COSM5465632 c.655A>C p.N219H Substitution - Missense 2:86765160-86765160 + TCGA-A4-A5XZ-01 COSM3991492 c.135G>A p.Q45Q Substitution - coding silent 2:86720802-86720802 + TCGA-06-0648-01 COSM2151364 c.702G>A p.L234L Substitution - coding silent 2:86765872-86765872 + PCSI_0038_Pa_X COSM5021306 c.360G>A p.E120E Substitution - coding silent 2:86751970-86751970 + TCGA-06-0648 COSM2151364 c.702G>A p.L234L Substitution - coding silent 2:86765872-86765872 + TCGA-AP-A056-01 COSM1023531 c.1166T>C p.I389T Substitution - Missense 2:86773401-86773401 + CHC433T COSM217258 c.169C>T p.L57F Substitution - Missense 2:86740953-86740953 + TCGA-CF-A27C-01 COSM1307072 c.632G>A p.R211Q Substitution - Missense 2:86765137-86765137 + TCGA-CA-6718-01 COSM1307072 c.632G>A p.R211Q Substitution - Missense 2:86765137-86765137 + TCGA-CG-5726-01 COSM4096150 c.586A>G p.R196G Substitution - Missense 2:86765091-86765091 + TCGA-33-4586-01 COSM722967 c.25C>T p.R9C Substitution - Missense 2:86720692-86720692 + TCGA-B0-5703-01 COSM477724 c.498C>T p.V166V Substitution - coding silent 2:86753535-86753535 + Sample_1 COSM5021306 c.360G>A p.E120E Substitution - coding silent 2:86751970-86751970 + TCGA-BH-A0B6-01 COSM3840192 c.743C>T p.S248L Substitution - Missense 2:86765913-86765913 + S00945 COSM314830 c.914A>G p.Q305R Substitution - Missense 2:86770082-86770082 + TCGA-D7-A4YV-01 COSM4096151 c.777G>A p.W259* Substitution - Nonsense 2:86765947-86765947 + SS6003111 COSM4019693 c.1065T>A p.G355G Substitution - coding silent 2:86771665-86771665 + TCGA-BR-A44T-01 COSM4096152 c.1047C>T p.P349P Substitution - coding silent 2:86771647-86771647 + YUPAER COSM5397548 c.831C>T p.S277S Substitution - coding silent 2:86766001-86766001 + ESO-859 COSM1240071 c.210T>C p.D70D Substitution - coding silent 2:86740994-86740994 + RW2982 COSM4649699 c.597T>C p.F199F Substitution - coding silent 2:86765102-86765102 + S00945 COSM314830 c.914A>G p.Q305R Substitution - Missense 2:86770082-86770082 + TCGA-BS-A0UF-01 COSM1023528 c.200G>T p.R67I Substitution - Missense 2:86740984-86740984 + TCGA-46-3768-01 COSM722966 c.495G>T p.K165N Substitution - Missense 2:86753532-86753532 + T9 COSM5021306 c.360G>A p.E120E Substitution - coding silent 2:86751970-86751970 + TCGA-FS-A1ZS-06 COSM3583837 c.305G>C p.S102T Substitution - Missense 2:86751915-86751915 + RK309_C01 COSM3702247 c.671C>T p.A224V Substitution - Missense 2:86765176-86765176 + WA48 COSM241432 c.728A>C p.Q243P Substitution - Missense 2:86765898-86765898 + TCGA-13-0760-01 COSM76247 c.546G>C p.M182I Substitution - Missense 2:86765051-86765051 + 1T COSM108567 c.679C>T p.H227Y Substitution - Missense 2:86765184-86765184 + PCSI_0300_Pa_P_526 COSM4962577 c.769A>G p.N257D Substitution - Missense 2:86765939-86765939 +

Mutation - CGAP UNIGENE CYTOBAND OMIM SNP Hs.75277 2p11.2

Mutation - IntOGen Mutated from(ref) Mutated to(alt) Consequence Type AA Mutation CDS Mutation Chr Pos Cancer A G 3-UTRSNV . c.1173+2323A>G 2 87002854 HC A G Missense p.Q221R c.662A>G 2 86992290 HNSC A G Missense p.Q305R c.914A>G 2 86997205 SCLC A G Missense p.R196G c.586A>G 2 86992214 STAD A G Synonymous p.Q228Q c.684A>G 2 86992312 LUAD A G Synonymous p.Q243Q c.729A>G 2 86993022 LUAD A T Missense p.K17M c.50A>T 2 86947840 HNSC C A Missense p.H252Q c.756C>A 2 86993049 BRCA C G Missense p.A288G c.863C>G 2 86997154 LUAD C T 3-UTRSNV . c.1173+1475C>T 2 87002006 HC C T Missense p.L57F c.169C>T 2 86968076 HC C T Missense p.R9C c.25C>T 2 86947815 LUSC C T Synonymous p.F126F c.378C>T 2 86979111 CM C T Synonymous p.V166V c.498C>T 2 86980658 RCCC G A Missense p.E181K c.541G>A 2 86992169 BLCA G A Missense p.R211Q c.632G>A 2 86992260 BLCA G A Synonymous p.L234L c.702G>A 2 86992995 GBM G C Missense p.M182I c.546G>C 2 86992174 OV G C Missense p.S102T c.305G>C 2 86979038 CM G T Missense p.K165N c.495G>T 2 86980655 LUSC T C Synonymous p.D70D c.210T>C 2 86968117 ESCA T G IntronicSNV . c.285+3368T>G 2 86971560 CLL TTAA - Frameshift p.I297Tfs*5 c.890_893delTTAA 2 86997177 UCEC