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 19 9921757 9921757 + Missense_Mutation SNP G G A TCGA-DK-A3WW-01A-22D-A23M-08 TCGA-DK-A3WW-10A-01D-A23K-08 g.chr19:9921757G>A c.796C>T c.(796-798)Cca>Tca p.P266S BLCA 19 9922216 9922216 + Missense_Mutation SNP C C A TCGA-ZF-AA4W-01A-12D-A38G-08 TCGA-ZF-AA4W-10A-01D-A38J-08 g.chr19:9922216C>A c.337G>T c.(337-339)Gac>Tac p.D113Y COAD 19 9922291 9922291 + Frame_Shift_Del DEL G G - TCGA-AA-3715-01A-01W-0900-09 TCGA-AA-3715-10A-01W-0900-09 g.chr19:9922291delG c.262delC c.(262-264)cagfs p.Q88fs COADREAD 19 9922118 9922118 + Missense_Mutation SNP C C A TCGA-AG-A002-01A-01W-A00K-09 TCGA-AG-A002-10A-01W-A00K-09 g.chr19:9922118C>A c.435G>T c.(433-435)caG>caT p.Q145H COADREAD 19 9922291 9922291 + Frame_Shift_Del DEL G G - TCGA-AA-3715-01A-01W-0900-09 TCGA-AA-3715-10A-01W-0900-09 g.chr19:9922291delG c.262delC c.(262-264)cagfs p.Q88fs ESCA 19 9921708 9921708 + Missense_Mutation SNP G G T TCGA-R6-A6DQ-01B-11D-A31U-09 TCGA-R6-A6DQ-10A-01D-A31U-09 g.chr19:9921708G>T c.845C>A c.(844-846)cCc>cAc p.P282H ESCA 19 9922157 9922157 + Missense_Mutation SNP G G T TCGA-V5-A7RB-01A-11D-A351-09 TCGA-V5-A7RB-10A-01D-A351-09 g.chr19:9922157G>T c.396C>A c.(394-396)caC>caA p.H132Q ESCA 19 9922195 9922195 + Missense_Mutation SNP T T C TCGA-R6-A6DQ-01B-11D-A31U-09 TCGA-R6-A6DQ-10A-01D-A31U-09 g.chr19:9922195T>C c.358A>G c.(358-360)Acc>Gcc p.T120A GBM 19 9921682 9921682 + Missense_Mutation SNP C C T TCGA-26-5135-01A-01D-1486-08 TCGA-26-5135-10A-01D-1486-08 g.chr19:9921682C>T c.871G>A c.(871-873)Ggg>Agg p.G291R GBM 19 9921852 9921852 + Missense_Mutation SNP C C T TCGA-41-3915-01A-01D-1353-08 TCGA-41-3915-10A-01D-1353-08 g.chr19:9921852C>T c.701G>A c.(700-702)cGg>cAg p.R234Q GBM 19 9922084 9922084 + Missense_Mutation SNP C C T TCGA-19-2631-01A-01D-1353-08 TCGA-19-2631-10B-01D-1353-08 g.chr19:9922084C>T c.469G>A c.(469-471)Gtg>Atg p.V157M GBM 19 9929295 9929296 + Splice_Site INS - - G TCGA-28-5213-01A-01D-1486-08 TCGA-28-5213-10A-01D-1486-08 g.chr19:9929295_9929296insG c.e2-2 GBMLGG 19 9921682 9921682 + Missense_Mutation SNP C C T TCGA-26-5135-01A-01D-1486-08 TCGA-26-5135-10A-01D-1486-08 g.chr19:9921682C>T c.871G>A c.(871-873)Ggg>Agg p.G291R GBMLGG 19 9921852 9921852 + Missense_Mutation SNP C C T TCGA-41-3915-01A-01D-1353-08 TCGA-41-3915-10A-01D-1353-08 g.chr19:9921852C>T c.701G>A c.(700-702)cGg>cAg p.R234Q GBMLGG 19 9922084 9922084 + Missense_Mutation SNP C C T TCGA-19-2631-01A-01D-1353-08 TCGA-19-2631-10B-01D-1353-08 g.chr19:9922084C>T c.469G>A c.(469-471)Gtg>Atg p.V157M GBMLGG 19 9929295 9929296 + Splice_Site INS - - G TCGA-28-5213-01A-01D-1486-08 TCGA-28-5213-10A-01D-1486-08 g.chr19:9929295_9929296insG c.e2-2 HNSC 19 9921884 9921884 + Silent SNP G G A TCGA-CV-A6JM-01A-11D-A31L-08 TCGA-CV-A6JM-10A-01D-A31J-08 g.chr19:9921884G>A c.669C>T c.(667-669)atC>atT p.I223I LIHC 19 9922014 9922014 + Nonsense_Mutation SNP G G T TCGA-EP-A2KA-01A-11D-A183-10 TCGA-EP-A2KA-10A-01D-A183-10 g.chr19:9922014G>T c.539C>A c.(538-540)tCg>tAg p.S180* LIHC 19 9922291 9922291 + Frame_Shift_Del DEL G G - TCGA-DD-A3A0-01A-11D-A20W-10 TCGA-DD-A3A0-11A-11D-A20W-10 g.chr19:9922291delG c.262delC c.(262-264)cagfs p.Q88fs LUAD 19 9921644 9921644 + Silent SNP C C A TCGA-78-7158-01A-11D-2036-08 TCGA-78-7158-10A-01D-2036-08 g.chr19:9921644C>A c.909G>T c.(907-909)ctG>ctT p.L303L LUAD 19 9921870 9921870 + Missense_Mutation SNP C C A TCGA-64-5781-01A-01D-1625-08 TCGA-64-5781-10A-01D-1625-08 g.chr19:9921870C>A c.683G>T c.(682-684)cGa>cTa p.R228L LUAD 19 9922278 9922278 + Missense_Mutation SNP G G C TCGA-86-7953-01A-11D-2184-08 TCGA-86-7953-10A-01D-2184-08 g.chr19:9922278G>C c.275C>G c.(274-276)gCt>gGt p.A92G PAAD 19 9921948 9921948 + Missense_Mutation SNP C C A TCGA-IB-7651-01A-11D-2154-08 TCGA-IB-7651-10A-01D-2154-08 g.chr19:9921948C>A c.605G>T c.(604-606)aGc>aTc p.S202I PAAD 19 9921950 9921950 + Silent SNP G G A TCGA-3A-A9I9-01A-11D-A38G-08 TCGA-3A-A9I9-10A-01D-A38J-08 g.chr19:9921950G>A c.603C>T c.(601-603)ctC>ctT p.L201L READ 19 9922118 9922118 + Missense_Mutation SNP C C A TCGA-AG-A002-01A-01W-A00K-09 TCGA-AG-A002-10A-01W-A00K-09 g.chr19:9922118C>A c.435G>T c.(433-435)caG>caT p.Q145H SARC 19 9929421 9929421 + Silent SNP G G A TCGA-DX-A8BZ-01A-11D-A37C-09 TCGA-DX-A8BZ-10A-01D-A37F-09 g.chr19:9929421G>A c.69C>T c.(67-69)gaC>gaT p.D23D SKCM 19 9921728 9921728 + Silent SNP G G A TCGA-DA-A3F8-06A-11D-A20D-08 TCGA-DA-A3F8-10A-01D-A20D-08 g.chr19:9921728G>A c.825C>T c.(823-825)ctC>ctT p.L275L SKCM 19 9922061 9922061 + Silent SNP G G A TCGA-EE-A3JD-06A-11D-A20D-08 TCGA-EE-A3JD-10A-01D-A20D-08 g.chr19:9922061G>A c.492C>T c.(490-492)ttC>ttT p.F164F SKCM 19 9922101 9922101 + Missense_Mutation SNP G G A TCGA-FW-A3R5-06A-11D-A23B-08 TCGA-FW-A3R5-10A-01D-A23B-08 g.chr19:9922101G>A c.452C>T c.(451-453)cCc>cTc p.P151L SKCM 19 9922366 9922366 + Missense_Mutation SNP G G A TCGA-GN-A266-06A-11D-A197-08 TCGA-GN-A266-10A-01D-A199-08 g.chr19:9922366G>A c.187C>T c.(187-189)Ctt>Ttt p.L63F

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 19 9921757 9921757 single base substitution G A 3_prime_UTR_variant BLCA-US 19 9921757 9921757 single base substitution G A downstream_gene_variant BLCA-US 19 9921757 9921757 single base substitution G A missense_variant P213S 637C>T BLCA-US 19 9921757 9921757 single base substitution G A missense_variant P266S 796C>T BRCA-EU 19 9916167 9916167 single base substitution T A downstream_gene_variant BRCA-EU 19 9916180 9916180 insertion of <=200bp - A downstream_gene_variant BRCA-EU 19 9917947 9917947 single base substitution G C downstream_gene_variant BRCA-EU 19 9920742 9920742 single base substitution G T downstream_gene_variant BRCA-EU 19 9920951 9920951 deletion of <=200bp A - 3_prime_UTR_variant BRCA-EU 19 9920951 9920951 deletion of <=200bp A - downstream_gene_variant BRCA-EU 19 9922028 9922028 single base substitution G A 3_prime_UTR_variant BRCA-EU 19 9922028 9922028 single base substitution G A downstream_gene_variant BRCA-EU 19 9922028 9922028 single base substitution G A synonymous_variant F122F 366C>T BRCA-EU 19 9922028 9922028 single base substitution G A synonymous_variant F175F 525C>T BRCA-EU 19 9923757 9923757 single base substitution A T intron_variant BRCA-EU 19 9923776 9923776 single base substitution G C intron_variant BRCA-EU 19 9925274 9925274 single base substitution G A 3_prime_UTR_variant BRCA-EU 19 9925274 9925274 single base substitution G A downstream_gene_variant BRCA-EU 19 9925274 9925274 single base substitution G A intron_variant BRCA-EU 19 9925274 9925274 single base substitution G A upstream_gene_variant BRCA-EU 19 9925468 9925468 single base substitution C T downstream_gene_variant BRCA-EU 19 9925468 9925468 single base substitution C T intron_variant BRCA-EU 19 9925468 9925468 single base substitution C T upstream_gene_variant BRCA-EU 19 9926125 9926125 single base substitution G A downstream_gene_variant BRCA-EU 19 9926125 9926125 single base substitution G A intron_variant BRCA-EU 19 9926125 9926125 single base substitution G A upstream_gene_variant BRCA-EU 19 9926286 9926286 single base substitution T G downstream_gene_variant BRCA-EU 19 9926286 9926286 single base substitution T G intron_variant BRCA-EU 19 9926286 9926286 single base substitution T G upstream_gene_variant BRCA-EU 19 9927512 9927512 single base substitution G C downstream_gene_variant BRCA-EU 19 9927512 9927512 single base substitution G C intron_variant BRCA-EU 19 9927512 9927512 single base substitution G C upstream_gene_variant BRCA-EU 19 9928062 9928062 single base substitution G A downstream_gene_variant BRCA-EU 19 9928062 9928062 single base substitution G A intron_variant BRCA-EU 19 9928062 9928062 single base substitution G A upstream_gene_variant BRCA-EU 19 9929512 9929512 single base substitution G A 5_prime_UTR_variant BRCA-EU 19 9929512 9929512 single base substitution G A intron_variant BRCA-EU 19 9929512 9929512 single base substitution G A upstream_gene_variant BRCA-EU 19 9929727 9929727 single base substitution T C 5_prime_UTR_variant BRCA-EU 19 9929727 9929727 single base substitution T C intron_variant BRCA-EU 19 9929727 9929727 single base substitution T C upstream_gene_variant BRCA-EU 19 9929917 9929917 single base substitution G A intron_variant BRCA-EU 19 9929917 9929917 single base substitution G A upstream_gene_variant BRCA-EU 19 9931384 9931384 single base substitution A T intron_variant BRCA-EU 19 9931384 9931384 single base substitution A T upstream_gene_variant BRCA-EU 19 9932131 9932131 deletion of <=200bp T - intron_variant BRCA-EU 19 9932131 9932131 deletion of <=200bp T - upstream_gene_variant BRCA-EU 19 9932916 9932916 single base substitution G T intron_variant BRCA-EU 19 9932916 9932916 single base substitution G T upstream_gene_variant BRCA-EU 19 9933699 9933699 single base substitution C T intron_variant BRCA-EU 19 9933699 9933699 single base substitution C T upstream_gene_variant BRCA-EU 19 9935934 9935934 single base substitution A T intron_variant BRCA-EU 19 9936775 9936775 single base substitution G C intron_variant BRCA-EU 19 9936818 9936818 single base substitution G A intron_variant BRCA-EU 19 9937144 9937144 single base substitution C T intron_variant BRCA-EU 19 9938451 9938451 single base substitution G A intron_variant BRCA-EU 19 9938718 9938718 single base substitution C T upstream_gene_variant BRCA-EU 19 9940004 9940004 single base substitution G A upstream_gene_variant BRCA-EU 19 9940758 9940758 single base substitution G A upstream_gene_variant BRCA-EU 19 9942263 9942263 single base substitution T A upstream_gene_variant BRCA-FR 19 9927512 9927512 single base substitution G C downstream_gene_variant BRCA-FR 19 9927512 9927512 single base substitution G C intron_variant BRCA-FR 19 9927512 9927512 single base substitution G C upstream_gene_variant BRCA-FR 19 9932916 9932916 single base substitution G T intron_variant BRCA-FR 19 9932916 9932916 single base substitution G T upstream_gene_variant BRCA-FR 19 9938451 9938451 single base substitution G A intron_variant BRCA-FR 19 9940004 9940004 single base substitution G A upstream_gene_variant BRCA-US 19 9939519 9939519 single base substitution G A upstream_gene_variant BTCA-JP 19 9929123 9929123 single base substitution G A intron_variant BTCA-JP 19 9929123 9929123 single base substitution G A missense_variant A86V 257C>T BTCA-JP 19 9929504 9929504 single base substitution G A 5_prime_UTR_variant BTCA-JP 19 9929504 9929504 single base substitution G A intron_variant BTCA-JP 19 9929504 9929504 single base substitution G A upstream_gene_variant BTCA-JP 19 9929516 9929516 single base substitution C T 5_prime_UTR_variant BTCA-JP 19 9929516 9929516 single base substitution C T intron_variant BTCA-JP 19 9929516 9929516 single base substitution C T upstream_gene_variant CESC-US 19 9931255 9931255 single base substitution T C intron_variant CESC-US 19 9931255 9931255 single base substitution T C upstream_gene_variant COAD-US 19 9921991 9921991 single base substitution G A 3_prime_UTR_variant COAD-US 19 9921991 9921991 single base substitution G A downstream_gene_variant COAD-US 19 9921991 9921991 single base substitution G A missense_variant R135C 403C>T COAD-US 19 9921991 9921991 single base substitution G A missense_variant R188C 562C>T COAD-US 19 9922223 9922223 single base substitution G A 3_prime_UTR_variant COAD-US 19 9922223 9922223 single base substitution G A downstream_gene_variant COAD-US 19 9922223 9922223 single base substitution G A synonymous_variant H110H 330C>T COAD-US 19 9922223 9922223 single base substitution G A synonymous_variant H57H 171C>T COCA-CN 19 9922373 9922373 single base substitution C T 3_prime_UTR_variant COCA-CN 19 9922373 9922373 single base substitution C T missense_variant G36D 107G>A COCA-CN 19 9922373 9922373 single base substitution C T stop_gained W60* 180G>A COCA-CN 19 9922373 9922373 single base substitution C T stop_gained W7* 21G>A COCA-CN 19 9929118 9929118 single base substitution C T intron_variant COCA-CN 19 9929118 9929118 single base substitution C T missense_variant D88N 262G>A ESAD-UK 19 9917047 9917047 single base substitution G C downstream_gene_variant ESAD-UK 19 9920690 9920690 single base substitution G A downstream_gene_variant ESAD-UK 19 9922066 9922066 single base substitution C T 3_prime_UTR_variant ESAD-UK 19 9922066 9922066 single base substitution C T downstream_gene_variant ESAD-UK 19 9922066 9922066 single base substitution C T missense_variant A110T 328G>A ESAD-UK 19 9922066 9922066 single base substitution C T missense_variant A163T 487G>A ESAD-UK 19 9924037 9924037 single base substitution G A 5_prime_UTR_premature_start_codon_gain_variant ESAD-UK 19 9924037 9924037 single base substitution G A downstream_gene_variant ESAD-UK 19 9924037 9924037 single base substitution G A intron_variant ESAD-UK 19 9924322 9924322 single base substitution C T downstream_gene_variant ESAD-UK 19 9924322 9924322 single base substitution C T intron_variant ESAD-UK 19 9924322 9924322 single base substitution C T upstream_gene_variant ESAD-UK 19 9928695 9928695 single base substitution G A downstream_gene_variant ESAD-UK 19 9928695 9928695 single base substitution G A intron_variant ESAD-UK 19 9928695 9928695 single base substitution G A upstream_gene_variant ESAD-UK 19 9933817 9933817 single base substitution G A intron_variant ESAD-UK 19 9933817 9933817 single base substitution G A upstream_gene_variant ESAD-UK 19 9933974 9933974 single base substitution A T intron_variant ESAD-UK 19 9933974 9933974 single base substitution A T upstream_gene_variant ESAD-UK 19 9934367 9934367 single base substitution G A intron_variant ESAD-UK 19 9934367 9934367 single base substitution G A upstream_gene_variant ESAD-UK 19 9935172 9935172 single base substitution G A intron_variant ESAD-UK 19 9936676 9936676 single base substitution T G intron_variant ESAD-UK 19 9936702 9936702 single base substitution G A intron_variant ESAD-UK 19 9937252 9937252 single base substitution C T intron_variant ESAD-UK 19 9937316 9937316 insertion of <=200bp - ATAA intron_variant ESAD-UK 19 9938577 9938577 single base substitution T G upstream_gene_variant ESAD-UK 19 9938971 9938971 single base substitution G C upstream_gene_variant ESAD-UK 19 9938973 9938973 single base substitution T C upstream_gene_variant ESAD-UK 19 9939695 9939695 single base substitution G C upstream_gene_variant ESAD-UK 19 9941744 9941744 single base substitution G A upstream_gene_variant ESCA-CN 19 9922213 9922213 single base substitution G C 3_prime_UTR_variant ESCA-CN 19 9922213 9922213 single base substitution G C downstream_gene_variant ESCA-CN 19 9922213 9922213 single base substitution G C missense_variant L114V 340C>G ESCA-CN 19 9922213 9922213 single base substitution G C missense_variant L61V 181C>G ESCA-CN 19 9922276 9922276 single base substitution G A 3_prime_UTR_variant ESCA-CN 19 9922276 9922276 single base substitution G A synonymous_variant L40L 118C>T ESCA-CN 19 9922276 9922276 single base substitution G A synonymous_variant L68L 204C>T ESCA-CN 19 9922276 9922276 single base substitution G A synonymous_variant L93L 277C>T GBM-US 19 9921682 9921682 single base substitution C T 3_prime_UTR_variant GBM-US 19 9921682 9921682 single base substitution C T downstream_gene_variant GBM-US 19 9921682 9921682 single base substitution C T missense_variant G238R 712G>A GBM-US 19 9921682 9921682 single base substitution C T missense_variant G291R 871G>A GBM-US 19 9921852 9921852 single base substitution C T 3_prime_UTR_variant GBM-US 19 9921852 9921852 single base substitution C T downstream_gene_variant GBM-US 19 9921852 9921852 single base substitution C T missense_variant R181Q 542G>A GBM-US 19 9921852 9921852 single base substitution C T missense_variant R234Q 701G>A GBM-US 19 9922084 9922084 single base substitution C T 3_prime_UTR_variant GBM-US 19 9922084 9922084 single base substitution C T downstream_gene_variant GBM-US 19 9922084 9922084 single base substitution C T missense_variant V104M 310G>A GBM-US 19 9922084 9922084 single base substitution C T missense_variant V157M 469G>A GBM-US 19 9929295 9929295 insertion of <=200bp - G exon_variant GBM-US 19 9929295 9929295 insertion of <=200bp - G frameshift_variant P65P? GBM-US 19 9929295 9929295 insertion of <=200bp - G intron_variant GBM-US 19 9929295 9929295 insertion of <=200bp - G splice_acceptor_variant LICA-CN 19 9929266 9929266 single base substitution C A 5_prime_UTR_premature_start_codon_gain_variant LICA-CN 19 9929266 9929266 single base substitution C A exon_variant LICA-CN 19 9929266 9929266 single base substitution C A intron_variant LICA-CN 19 9929266 9929266 single base substitution C A missense_variant W75L 224G>T LICA-CN 19 9929266 9929266 single base substitution C A stop_gained G30* 88G>T LICA-CN 19 9929266 9929266 single base substitution C A synonymous_variant V38V 114G>T LICA-FR 19 9922608 9922608 deletion of <=200bp T - intron_variant LICA-FR 19 9940173 9940173 deletion of <=200bp T - upstream_gene_variant LINC-JP 19 9939104 9939104 single base substitution C T upstream_gene_variant LINC-JP 19 9939781 9939781 single base substitution G T upstream_gene_variant LIRI-JP 19 9917358 9917358 single base substitution T C downstream_gene_variant LIRI-JP 19 9917470 9917470 insertion of <=200bp - TC downstream_gene_variant LIRI-JP 19 9917561 9917561 single base substitution T A downstream_gene_variant LIRI-JP 19 9924959 9924959 single base substitution C T 3_prime_UTR_variant LIRI-JP 19 9924959 9924959 single base substitution C T downstream_gene_variant LIRI-JP 19 9924959 9924959 single base substitution C T intron_variant LIRI-JP 19 9924959 9924959 single base substitution C T upstream_gene_variant LIRI-JP 19 9928101 9928101 single base substitution G C downstream_gene_variant LIRI-JP 19 9928101 9928101 single base substitution G C intron_variant LIRI-JP 19 9928101 9928101 single base substitution G C upstream_gene_variant LIRI-JP 19 9928707 9928707 single base substitution T A downstream_gene_variant LIRI-JP 19 9928707 9928707 single base substitution T A intron_variant LIRI-JP 19 9928707 9928707 single base substitution T A upstream_gene_variant LIRI-JP 19 9928723 9928723 single base substitution C G downstream_gene_variant LIRI-JP 19 9928723 9928723 single base substitution C G intron_variant LIRI-JP 19 9928723 9928723 single base substitution C G upstream_gene_variant LIRI-JP 19 9928839 9928839 single base substitution C T 3_prime_UTR_variant LIRI-JP 19 9928839 9928839 single base substitution C T intron_variant LIRI-JP 19 9928839 9928839 single base substitution C T upstream_gene_variant LIRI-JP 19 9932327 9932327 single base substitution G A intron_variant LIRI-JP 19 9932327 9932327 single base substitution G A upstream_gene_variant LIRI-JP 19 9936491 9936491 single base substitution T C intron_variant LUSC-KR 19 9921575 9921575 single base substitution C T 3_prime_UTR_variant LUSC-KR 19 9921575 9921575 single base substitution C T downstream_gene_variant LUSC-KR 19 9921575 9921575 single base substitution C T missense_variant M273I 819G>A LUSC-KR 19 9921575 9921575 single base substitution C T missense_variant M326I 978G>A LUSC-KR 19 9934370 9934370 single base substitution C T intron_variant LUSC-KR 19 9934370 9934370 single base substitution C T upstream_gene_variant LUSC-KR 19 9935022 9935022 single base substitution G A intron_variant LUSC-KR 19 9940451 9940451 single base substitution G T upstream_gene_variant MALY-DE 19 9919701 9919701 single base substitution C T downstream_gene_variant MALY-DE 19 9931284 9931284 single base substitution C T intron_variant MALY-DE 19 9931284 9931284 single base substitution C T upstream_gene_variant MALY-DE 19 9931684 9931684 single base substitution C T intron_variant MALY-DE 19 9931684 9931684 single base substitution C T upstream_gene_variant MALY-DE 19 9938835 9938835 single base substitution G C upstream_gene_variant MALY-DE 19 9942247 9942247 single base substitution T G upstream_gene_variant MELA-AU 19 9916513 9916513 single base substitution G A downstream_gene_variant MELA-AU 19 9917540 9917540 single base substitution G A downstream_gene_variant MELA-AU 19 9917579 9917579 single base substitution G A downstream_gene_variant MELA-AU 19 9918072 9918072 single base substitution G A downstream_gene_variant MELA-AU 19 9918113 9918113 single base substitution A T downstream_gene_variant MELA-AU 19 9918679 9918679 single base substitution G A downstream_gene_variant MELA-AU 19 9918819 9918819 single base substitution G A downstream_gene_variant MELA-AU 19 9918966 9918966 single base substitution C T downstream_gene_variant MELA-AU 19 9919785 9919785 single base substitution T C downstream_gene_variant MELA-AU 19 9919977 9919977 single base substitution T C downstream_gene_variant MELA-AU 19 9920437 9920437 single base substitution G A downstream_gene_variant MELA-AU 19 9920574 9920574 single base substitution G A downstream_gene_variant MELA-AU 19 9921152 9921152 single base substitution G A 3_prime_UTR_variant MELA-AU 19 9921152 9921152 single base substitution G A downstream_gene_variant MELA-AU 19 9921242 9921242 single base substitution G A 3_prime_UTR_variant MELA-AU 19 9921242 9921242 single base substitution G A downstream_gene_variant MELA-AU 19 9921462 9921462 single base substitution G A 3_prime_UTR_variant MELA-AU 19 9921462 9921462 single base substitution G A downstream_gene_variant MELA-AU 19 9921518 9921518 single base substitution G A 3_prime_UTR_variant MELA-AU 19 9921518 9921518 single base substitution G A downstream_gene_variant MELA-AU 19 9921991 9921991 single base substitution G A 3_prime_UTR_variant MELA-AU 19 9921991 9921991 single base substitution G A downstream_gene_variant MELA-AU 19 9921991 9921991 single base substitution G A missense_variant R135C 403C>T MELA-AU 19 9921991 9921991 single base substitution G A missense_variant R188C 562C>T MELA-AU 19 9922043 9922043 single base substitution C T 3_prime_UTR_variant MELA-AU 19 9922043 9922043 single base substitution C T downstream_gene_variant MELA-AU 19 9922043 9922043 single base substitution C T synonymous_variant Q117Q 351G>A MELA-AU 19 9922043 9922043 single base substitution C T synonymous_variant Q170Q 510G>A MELA-AU 19 9922060 9922060 single base substitution G A 3_prime_UTR_variant MELA-AU 19 9922060 9922060 single base substitution G A downstream_gene_variant MELA-AU 19 9922060 9922060 single base substitution G A missense_variant R112C 334C>T MELA-AU 19 9922060 9922060 single base substitution G A missense_variant R165C 493C>T MELA-AU 19 9923616 9923616 single base substitution G A intron_variant MELA-AU 19 9923907 9923907 single base substitution A C downstream_gene_variant MELA-AU 19 9923907 9923907 single base substitution A C intron_variant MELA-AU 19 9923907 9923907 single base substitution A C splice_region_variant MELA-AU 19 9923955 9923955 single base substitution T C 5_prime_UTR_variant MELA-AU 19 9923955 9923955 single base substitution T C downstream_gene_variant MELA-AU 19 9923955 9923955 single base substitution T C intron_variant MELA-AU 19 9923955 9923955 single base substitution T C splice_region_variant MELA-AU 19 9923964 9923964 single base substitution G A 5_prime_UTR_variant MELA-AU 19 9923964 9923964 single base substitution G A downstream_gene_variant MELA-AU 19 9923964 9923964 single base substitution G A intron_variant MELA-AU 19 9924146 9924146 single base substitution G A downstream_gene_variant MELA-AU 19 9924146 9924146 single base substitution G A intron_variant MELA-AU 19 9924146 9924146 single base substitution G A upstream_gene_variant MELA-AU 19 9924272 9924273 multiple base substitution (>=2bp and <=200bp) GG AA downstream_gene_variant MELA-AU 19 9924272 9924273 multiple base substitution (>=2bp and <=200bp) GG AA intron_variant MELA-AU 19 9924272 9924273 multiple base substitution (>=2bp and <=200bp) GG AA upstream_gene_variant MELA-AU 19 9924490 9924490 single base substitution T C downstream_gene_variant MELA-AU 19 9924490 9924490 single base substitution T C intron_variant MELA-AU 19 9924490 9924490 single base substitution T C upstream_gene_variant MELA-AU 19 9924620 9924620 single base substitution G A downstream_gene_variant MELA-AU 19 9924620 9924620 single base substitution G A intron_variant MELA-AU 19 9924620 9924620 single base substitution G A upstream_gene_variant MELA-AU 19 9925080 9925081 multiple base substitution (>=2bp and <=200bp) GG AA downstream_gene_variant MELA-AU 19 9925080 9925081 multiple base substitution (>=2bp and <=200bp) GG AA intron_variant MELA-AU 19 9925080 9925081 multiple base substitution (>=2bp and <=200bp) GG AA upstream_gene_variant MELA-AU 19 9925678 9925678 single base substitution T C downstream_gene_variant MELA-AU 19 9925678 9925678 single base substitution T C intron_variant MELA-AU 19 9925678 9925678 single base substitution T C upstream_gene_variant MELA-AU 19 9925736 9925736 single base substitution G A downstream_gene_variant MELA-AU 19 9925736 9925736 single base substitution G A intron_variant MELA-AU 19 9925736 9925736 single base substitution G A upstream_gene_variant MELA-AU 19 9925840 9925840 single base substitution G A downstream_gene_variant MELA-AU 19 9925840 9925840 single base substitution G A intron_variant MELA-AU 19 9925840 9925840 single base substitution G A upstream_gene_variant MELA-AU 19 9926434 9926434 single base substitution G A downstream_gene_variant MELA-AU 19 9926434 9926434 single base substitution G A intron_variant MELA-AU 19 9926434 9926434 single base substitution G A upstream_gene_variant MELA-AU 19 9926691 9926692 multiple base substitution (>=2bp and <=200bp) GG AA downstream_gene_variant MELA-AU 19 9926691 9926692 multiple base substitution (>=2bp and <=200bp) GG AA intron_variant MELA-AU 19 9926691 9926692 multiple base substitution (>=2bp and <=200bp) GG AA upstream_gene_variant MELA-AU 19 9927188 9927188 single base substitution C T downstream_gene_variant MELA-AU 19 9927188 9927188 single base substitution C T intron_variant MELA-AU 19 9927188 9927188 single base substitution C T upstream_gene_variant MELA-AU 19 9928024 9928024 single base substitution G A downstream_gene_variant MELA-AU 19 9928024 9928024 single base substitution G A intron_variant MELA-AU 19 9928024 9928024 single base substitution G A upstream_gene_variant MELA-AU 19 9928160 9928160 single base substitution G A downstream_gene_variant MELA-AU 19 9928160 9928160 single base substitution G A intron_variant MELA-AU 19 9928160 9928160 single base substitution G A upstream_gene_variant MELA-AU 19 9929495 9929495 single base substitution C T 5_prime_UTR_variant MELA-AU 19 9929495 9929495 single base substitution C T intron_variant MELA-AU 19 9929495 9929495 single base substitution C T upstream_gene_variant MELA-AU 19 9930065 9930065 single base substitution C T intron_variant MELA-AU 19 9930065 9930065 single base substitution C T upstream_gene_variant MELA-AU 19 9930102 9930102 single base substitution C T intron_variant MELA-AU 19 9930102 9930102 single base substitution C T upstream_gene_variant MELA-AU 19 9930122 9930122 single base substitution C T intron_variant MELA-AU 19 9930122 9930122 single base substitution C T upstream_gene_variant MELA-AU 19 9930133 9930133 single base substitution G A intron_variant MELA-AU 19 9930133 9930133 single base substitution G A upstream_gene_variant MELA-AU 19 9930160 9930160 single base substitution G A intron_variant MELA-AU 19 9930160 9930160 single base substitution G A upstream_gene_variant MELA-AU 19 9931784 9931784 single base substitution G A intron_variant MELA-AU 19 9931784 9931784 single base substitution G A upstream_gene_variant MELA-AU 19 9932918 9932918 single base substitution C T intron_variant MELA-AU 19 9932918 9932918 single base substitution C T upstream_gene_variant MELA-AU 19 9933090 9933091 multiple base substitution (>=2bp and <=200bp) GG AA intron_variant MELA-AU 19 9933090 9933091 multiple base substitution (>=2bp and <=200bp) GG AA upstream_gene_variant MELA-AU 19 9933669 9933669 single base substitution G A intron_variant MELA-AU 19 9933669 9933669 single base substitution G A upstream_gene_variant MELA-AU 19 9933990 9933990 single base substitution G A intron_variant MELA-AU 19 9933990 9933990 single base substitution G A upstream_gene_variant MELA-AU 19 9935151 9935151 single base substitution G A intron_variant MELA-AU 19 9935162 9935162 single base substitution G A intron_variant MELA-AU 19 9935393 9935393 single base substitution G A intron_variant MELA-AU 19 9936327 9936327 single base substitution G A intron_variant MELA-AU 19 9938081 9938081 single base substitution G A intron_variant MELA-AU 19 9938103 9938103 single base substitution G A intron_variant MELA-AU 19 9938234 9938234 single base substitution G A intron_variant MELA-AU 19 9938503 9938503 single base substitution G A upstream_gene_variant MELA-AU 19 9938506 9938506 single base substitution G A upstream_gene_variant MELA-AU 19 9938548 9938548 single base substitution G A upstream_gene_variant MELA-AU 19 9938553 9938553 single base substitution C T upstream_gene_variant MELA-AU 19 9938579 9938579 single base substitution C T upstream_gene_variant MELA-AU 19 9938579 9938580 multiple base substitution (>=2bp and <=200bp) CC TA upstream_gene_variant MELA-AU 19 9938864 9938864 single base substitution T C upstream_gene_variant MELA-AU 19 9938902 9938902 single base substitution A T upstream_gene_variant MELA-AU 19 9939188 9939189 multiple base substitution (>=2bp and <=200bp) CC TT upstream_gene_variant MELA-AU 19 9940648 9940648 single base substitution C T upstream_gene_variant MELA-AU 19 9940708 9940708 single base substitution C T upstream_gene_variant MELA-AU 19 9940918 9940918 single base substitution G C upstream_gene_variant MELA-AU 19 9942556 9942556 single base substitution C T upstream_gene_variant ORCA-IN 19 9922607 9922607 deletion of <=200bp C - intron_variant ORCA-IN 19 9927905 9927905 single base substitution G A downstream_gene_variant ORCA-IN 19 9927905 9927905 single base substitution G A intron_variant ORCA-IN 19 9927905 9927905 single base substitution G A upstream_gene_variant OV-AU 19 9917436 9917436 single base substitution G C downstream_gene_variant OV-AU 19 9941176 9941176 single base substitution C T upstream_gene_variant PACA-AU 19 9919480 9919480 single base substitution A G downstream_gene_variant PACA-AU 19 9921834 9921834 single base substitution A C 3_prime_UTR_variant PACA-AU 19 9921834 9921834 single base substitution A C downstream_gene_variant PACA-AU 19 9921834 9921834 single base substitution A C missense_variant L187R 560T>G PACA-AU 19 9921834 9921834 single base substitution A C missense_variant L240R 719T>G PACA-AU 19 9923757 9923757 single base substitution A T intron_variant PACA-AU 19 9930689 9930689 single base substitution A G intron_variant PACA-AU 19 9930689 9930689 single base substitution A G upstream_gene_variant PACA-AU 19 9931881 9931881 single base substitution G A intron_variant PACA-AU 19 9931881 9931881 single base substitution G A upstream_gene_variant PACA-AU 19 9932439 9932439 single base substitution G C intron_variant PACA-AU 19 9932439 9932439 single base substitution G C upstream_gene_variant PACA-AU 19 9935021 9935021 single base substitution C T intron_variant PACA-AU 19 9936275 9936275 single base substitution T A intron_variant PACA-AU 19 9937348 9937348 single base substitution A T intron_variant PACA-AU 19 9938189 9938189 single base substitution C T intron_variant PACA-AU 19 9942263 9942263 single base substitution T A upstream_gene_variant PACA-AU 19 9943156 9943158 deletion of <=200bp GGA - upstream_gene_variant PACA-CA 19 9916959 9916959 single base substitution G A downstream_gene_variant PACA-CA 19 9918058 9918058 deletion of <=200bp A - downstream_gene_variant PACA-CA 19 9919845 9919845 single base substitution C G downstream_gene_variant PACA-CA 19 9921301 9921315 deletion of <=200bp GTAAGGCTTTGCAAT - 3_prime_UTR_variant PACA-CA 19 9921301 9921315 deletion of <=200bp GTAAGGCTTTGCAAT - downstream_gene_variant PACA-CA 19 9922795 9922795 single base substitution G A intron_variant PACA-CA 19 9924117 9924117 single base substitution T C downstream_gene_variant PACA-CA 19 9924117 9924117 single base substitution T C intron_variant PACA-CA 19 9924117 9924117 single base substitution T C upstream_gene_variant PACA-CA 19 9924222 9924222 single base substitution G T downstream_gene_variant PACA-CA 19 9924222 9924222 single base substitution G T intron_variant PACA-CA 19 9924222 9924222 single base substitution G T upstream_gene_variant PACA-CA 19 9927219 9927219 single base substitution C T downstream_gene_variant PACA-CA 19 9927219 9927219 single base substitution C T intron_variant PACA-CA 19 9927219 9927219 single base substitution C T upstream_gene_variant PACA-CA 19 9930221 9930221 single base substitution A G intron_variant PACA-CA 19 9930221 9930221 single base substitution A G upstream_gene_variant PACA-CA 19 9930564 9930564 single base substitution G T intron_variant PACA-CA 19 9930564 9930564 single base substitution G T upstream_gene_variant PACA-CA 19 9931257 9931257 single base substitution T C intron_variant PACA-CA 19 9931257 9931257 single base substitution T C upstream_gene_variant PACA-CA 19 9931736 9931736 single base substitution C A intron_variant PACA-CA 19 9931736 9931736 single base substitution C A upstream_gene_variant PACA-CA 19 9932631 9932631 single base substitution C A intron_variant PACA-CA 19 9932631 9932631 single base substitution C A upstream_gene_variant PACA-CA 19 9933588 9933602 deletion of <=200bp AGAACATTTTGAAAA - intron_variant PACA-CA 19 9933588 9933602 deletion of <=200bp AGAACATTTTGAAAA - upstream_gene_variant PACA-CA 19 9933591 9933591 single base substitution A G intron_variant PACA-CA 19 9933591 9933591 single base substitution A G upstream_gene_variant PACA-CA 19 9934520 9934520 single base substitution G T intron_variant PACA-CA 19 9934520 9934520 single base substitution G T upstream_gene_variant PACA-CA 19 9936339 9936339 single base substitution G A intron_variant PACA-CA 19 9937348 9937348 single base substitution A T intron_variant PACA-CA 19 9938857 9938857 single base substitution C T upstream_gene_variant PACA-CA 19 9939283 9939283 single base substitution C T upstream_gene_variant PACA-CA 19 9939415 9939415 single base substitution C T upstream_gene_variant PACA-CA 19 9942633 9942633 single base substitution C T upstream_gene_variant PAEN-AU 19 9932608 9932608 single base substitution T A intron_variant PAEN-AU 19 9932608 9932608 single base substitution T A upstream_gene_variant PBCA-DE 19 9917206 9917206 single base substitution G A downstream_gene_variant PBCA-DE 19 9918070 9918070 single base substitution A G downstream_gene_variant PBCA-DE 19 9933782 9933782 single base substitution T C intron_variant PBCA-DE 19 9933782 9933782 single base substitution T C upstream_gene_variant PBCA-DE 19 9935439 9935439 single base substitution C T intron_variant PBCA-DE 19 9942347 9942347 single base substitution T G upstream_gene_variant PRAD-CA 19 9931236 9931236 single base substitution A G intron_variant PRAD-CA 19 9931236 9931236 single base substitution A G upstream_gene_variant PRAD-CA 19 9938423 9938423 single base substitution C T intron_variant PRAD-CA 19 9939913 9939913 single base substitution G A upstream_gene_variant PRAD-UK 19 9925253 9925253 single base substitution G C 3_prime_UTR_variant PRAD-UK 19 9925253 9925253 single base substitution G C downstream_gene_variant PRAD-UK 19 9925253 9925253 single base substitution G C intron_variant PRAD-UK 19 9925253 9925253 single base substitution G C upstream_gene_variant PRAD-UK 19 9925285 9925285 single base substitution A T 3_prime_UTR_variant PRAD-UK 19 9925285 9925285 single base substitution A T downstream_gene_variant PRAD-UK 19 9925285 9925285 single base substitution A T intron_variant PRAD-UK 19 9925285 9925285 single base substitution A T upstream_gene_variant PRAD-UK 19 9934412 9934412 deletion of <=200bp C - intron_variant PRAD-UK 19 9934412 9934412 deletion of <=200bp C - upstream_gene_variant RECA-EU 19 9919649 9919649 single base substitution C G downstream_gene_variant RECA-EU 19 9925606 9925606 single base substitution C A downstream_gene_variant RECA-EU 19 9925606 9925606 single base substitution C A intron_variant RECA-EU 19 9925606 9925606 single base substitution C A upstream_gene_variant RECA-EU 19 9938338 9938338 single base substitution C T intron_variant RECA-EU 19 9939222 9939222 single base substitution T C upstream_gene_variant RECA-EU 19 9939660 9939660 single base substitution G A upstream_gene_variant SKCA-BR 19 9922480 9922480 single base substitution T G intron_variant SKCA-BR 19 9922518 9922518 single base substitution C T intron_variant SKCA-BR 19 9922708 9922708 single base substitution T C intron_variant SKCA-BR 19 9926466 9926466 single base substitution G A downstream_gene_variant SKCA-BR 19 9926466 9926466 single base substitution G A intron_variant SKCA-BR 19 9926466 9926466 single base substitution G A upstream_gene_variant SKCA-BR 19 9927589 9927589 single base substitution T G downstream_gene_variant SKCA-BR 19 9927589 9927589 single base substitution T G intron_variant SKCA-BR 19 9927589 9927589 single base substitution T G upstream_gene_variant SKCA-BR 19 9930163 9930163 single base substitution G A intron_variant SKCA-BR 19 9930163 9930163 single base substitution G A upstream_gene_variant SKCA-BR 19 9931232 9931232 single base substitution G A intron_variant SKCA-BR 19 9931232 9931232 single base substitution G A upstream_gene_variant SKCA-BR 19 9934456 9934456 single base substitution A G intron_variant SKCA-BR 19 9934456 9934456 single base substitution A G upstream_gene_variant SKCA-BR 19 9937789 9937789 single base substitution T A intron_variant SKCA-BR 19 9938541 9938541 single base substitution G A upstream_gene_variant SKCA-BR 19 9940159 9940159 single base substitution G A upstream_gene_variant SKCM-US 19 9921728 9921728 single base substitution G A 3_prime_UTR_variant SKCM-US 19 9921728 9921728 single base substitution G A downstream_gene_variant SKCM-US 19 9921728 9921728 single base substitution G A synonymous_variant L222L 666C>T SKCM-US 19 9921728 9921728 single base substitution G A synonymous_variant L275L 825C>T SKCM-US 19 9921871 9921871 single base substitution G A 3_prime_UTR_variant SKCM-US 19 9921871 9921871 single base substitution G A downstream_gene_variant SKCM-US 19 9921871 9921871 single base substitution G A stop_gained R175* 523C>T SKCM-US 19 9921871 9921871 single base substitution G A stop_gained R228* 682C>T SKCM-US 19 9922061 9922061 single base substitution G A 3_prime_UTR_variant SKCM-US 19 9922061 9922061 single base substitution G A downstream_gene_variant SKCM-US 19 9922061 9922061 single base substitution G A synonymous_variant F111F 333C>T SKCM-US 19 9922061 9922061 single base substitution G A synonymous_variant F164F 492C>T SKCM-US 19 9922101 9922101 single base substitution G A 3_prime_UTR_variant SKCM-US 19 9922101 9922101 single base substitution G A downstream_gene_variant SKCM-US 19 9922101 9922101 single base substitution G A missense_variant P151L 452C>T SKCM-US 19 9922101 9922101 single base substitution G A missense_variant P98L 293C>T SKCM-US 19 9922366 9922366 single base substitution G A 3_prime_UTR_variant SKCM-US 19 9922366 9922366 single base substitution G A missense_variant L10F 28C>T SKCM-US 19 9922366 9922366 single base substitution G A missense_variant L63F 187C>T SKCM-US 19 9922366 9922366 single base substitution G A synonymous_variant S38S 114C>T STAD-US 19 9921757 9921757 single base substitution G C 3_prime_UTR_variant STAD-US 19 9921757 9921757 single base substitution G C downstream_gene_variant STAD-US 19 9921757 9921757 single base substitution G C missense_variant P213A 637C>G STAD-US 19 9921757 9921757 single base substitution G C missense_variant P266A 796C>G STAD-US 19 9922033 9922033 single base substitution G A 3_prime_UTR_variant STAD-US 19 9922033 9922033 single base substitution G A downstream_gene_variant STAD-US 19 9922033 9922033 single base substitution G A missense_variant R121C 361C>T STAD-US 19 9922033 9922033 single base substitution G A missense_variant R174C 520C>T STAD-US 19 9922074 9922074 single base substitution C T 3_prime_UTR_variant STAD-US 19 9922074 9922074 single base substitution C T downstream_gene_variant STAD-US 19 9922074 9922074 single base substitution C T missense_variant R107H 320G>A STAD-US 19 9922074 9922074 single base substitution C T missense_variant R160H 479G>A STAD-US 19 9922090 9922090 single base substitution A G 3_prime_UTR_variant STAD-US 19 9922090 9922090 single base substitution A G downstream_gene_variant STAD-US 19 9922090 9922090 single base substitution A G missense_variant C102R 304T>C STAD-US 19 9922090 9922090 single base substitution A G missense_variant C155R 463T>C STAD-US 19 9922149 9922149 single base substitution T C 3_prime_UTR_variant STAD-US 19 9922149 9922149 single base substitution T C downstream_gene_variant STAD-US 19 9922149 9922149 single base substitution T C missense_variant E135G 404A>G STAD-US 19 9922149 9922149 single base substitution T C missense_variant E82G 245A>G STAD-US 19 9922250 9922250 single base substitution G A 3_prime_UTR_variant STAD-US 19 9922250 9922250 single base substitution G A synonymous_variant C101C 303C>T STAD-US 19 9922250 9922250 single base substitution G A synonymous_variant C48C 144C>T STAD-US 19 9922291 9922291 deletion of <=200bp G - 3_prime_UTR_variant STAD-US 19 9922291 9922291 deletion of <=200bp G - frameshift_variant P63 STAD-US 19 9922291 9922291 deletion of <=200bp G - frameshift_variant Q35 STAD-US 19 9922291 9922291 deletion of <=200bp G - frameshift_variant Q88 UCEC-US 19 9921710 9921710 single base substitution C T 3_prime_UTR_variant UCEC-US 19 9921710 9921710 single base substitution C T downstream_gene_variant UCEC-US 19 9921710 9921710 single base substitution C T missense_variant M228I 684G>A UCEC-US 19 9921710 9921710 single base substitution C T missense_variant M281I 843G>A UCEC-US 19 9921763 9921763 single base substitution C T 3_prime_UTR_variant UCEC-US 19 9921763 9921763 single base substitution C T downstream_gene_variant UCEC-US 19 9921763 9921763 single base substitution C T missense_variant V211I 631G>A UCEC-US 19 9921763 9921763 single base substitution C T missense_variant V264I 790G>A UCEC-US 19 9921797 9921797 single base substitution C T 3_prime_UTR_variant UCEC-US 19 9921797 9921797 single base substitution C T downstream_gene_variant UCEC-US 19 9921797 9921797 single base substitution C T synonymous_variant P199P 597G>A UCEC-US 19 9921797 9921797 single base substitution C T synonymous_variant P252P 756G>A UCEC-US 19 9922034 9922034 single base substitution C T 3_prime_UTR_variant UCEC-US 19 9922034 9922034 single base substitution C T downstream_gene_variant UCEC-US 19 9922034 9922034 single base substitution C T synonymous_variant T120T 360G>A UCEC-US 19 9922034 9922034 single base substitution C T synonymous_variant T173T 519G>A UCEC-US 19 9922067 9922067 single base substitution G A 3_prime_UTR_variant UCEC-US 19 9922067 9922067 single base substitution G A downstream_gene_variant UCEC-US 19 9922067 9922067 single base substitution G A synonymous_variant P109P 327C>T UCEC-US 19 9922067 9922067 single base substitution G A synonymous_variant P162P 486C>T UCEC-US 19 9922308 9922308 single base substitution G A 3_prime_UTR_variant UCEC-US 19 9922308 9922308 single base substitution G A missense_variant S29F 86C>T UCEC-US 19 9922308 9922308 single base substitution G A missense_variant S82F 245C>T UCEC-US 19 9922308 9922308 single base substitution G A synonymous_variant L58L 172C>T UCEC-US 19 9939272 9939272 single base substitution G A upstream_gene_variant

Mutation - COSMIC Sample Name Mutation ID Mutation CDS Mutation AA Mutation Description Mutation Genome Position Mutation Strand TCGA-AM-5821-01 COSM3757514 c.330C>T p.H110H Substitution - coding silent 19:9811547-9811547 - TCGA-CK-4951-01 COSM5149902 c.913A>T p.K305* Substitution - Nonsense 19:9810964-9810964 - TCGA-D5-6537-01 COSM3693291 c.562C>T p.R188C Substitution - Missense 19:9811315-9811315 - TCGA-D7-5578-01 COSM4083675 c.404A>G p.E135G Substitution - Missense 19:9811473-9811473 - RMS77_ COSM1004378 c.790G>A p.V264I Substitution - Missense 19:9811087-9811087 - TCGA-GN-A266-06 COSM3544014 c.187C>T p.L63F Substitution - Missense 19:9811690-9811690 - T11 COSM3757514 c.330C>T p.H110H Substitution - coding silent 19:9811547-9811547 - TCGA-HU-8610-01 COSM4083672 c.520C>T p.R174C Substitution - Missense 19:9811357-9811357 - TCGA-DK-A3WW-01 COSM3797777 c.796C>T p.P266S Substitution - Missense 19:9811081-9811081 - TCGA-19-2631 COSM2156438 c.469G>A p.V157M Substitution - Missense 19:9811408-9811408 - TCGA-FW-A3R5-06 COSM2702432 c.452C>T p.P151L Substitution - Missense 19:9811425-9811425 - COLO320-DM COSM2702438 c.429G>A p.K143K Substitution - coding silent 19:9811448-9811448 - CSCC-31-T COSM3544014 c.187C>T p.L63F Substitution - Missense 19:9811690-9811690 - HT115 COSM2702431 c.585T>C p.D195D Substitution - coding silent 19:9811292-9811292 - TCGA-AP-A056-01 COSM1004381 c.519G>A p.T173T Substitution - coding silent 19:9811358-9811358 - TCGA-D1-A103-01 COSM1004379 c.756G>A p.P252P Substitution - coding silent 19:9811121-9811121 - T3535 COSM4683857 c.895G>A p.A299T Substitution - Missense 19:9810982-9810982 - TCGA-41-3915-01 COSM3404922 c.701G>A p.R234Q Substitution - Missense 19:9811176-9811176 - T368 COSM1004381 c.519G>A p.T173T Substitution - coding silent 19:9811358-9811358 - TCGA-BR-4184-01 COSM4083676 c.303C>T p.C101C Substitution - coding silent 19:9811574-9811574 - T2197 COSM1004381 c.519G>A p.T173T Substitution - coding silent 19:9811358-9811358 - TCGA-ER-A19K-01 COSM3544013 c.682C>T p.R228* Substitution - Nonsense 19:9811195-9811195 - TCGA-BR-8059-01 COSM4083671 c.796C>G p.P266A Substitution - Missense 19:9811081-9811081 - T8 COSM5343530 c.371G>A p.S124N Substitution - Missense 19:9811506-9811506 - TCGA-D1-A0ZZ-01 COSM1004378 c.790G>A p.V264I Substitution - Missense 19:9811087-9811087 - 8067242 COSM3773252 c.719T>G p.L240R Substitution - Missense 19:9811158-9811158 - pfg181T COSM4749799 c.394C>T p.H132Y Substitution - Missense 19:9811483-9811483 - TCGA-D1-A176-01 COSM1004382 c.486C>T p.P162P Substitution - coding silent 19:9811391-9811391 - CSCC-56-T COSM4493198 c.410C>T p.S137F Substitution - Missense 19:9811467-9811467 - TCGA-DI-A0WH-01 COSM1004380 c.711G>A p.V237V Substitution - coding silent 19:9811166-9811166 - SNUH_G16_S1 COSM3757514 c.330C>T p.H110H Substitution - coding silent 19:9811547-9811547 - CSCC-44-T COSM4493258 c.411C>T p.S137S Substitution - coding silent 19:9811466-9811466 - Pat_06_B COSM5857383 c.325_328delCTGC p.L109fs*5 Deletion - Frameshift 19:9811549-9811552 - CRC-19T COSM5481579 c.180G>A p.W60* Substitution - Nonsense 19:9811697-9811697 - TCGA-DA-A3F8-06 COSM3544012 c.825C>T p.L275L Substitution - coding silent 19:9811052-9811052 - ICC002T COSM5824698 c.114G>T p.V38V Substitution - coding silent 19:9818590-9818590 - 537 COSM5612357 c.347T>C p.M116T Substitution - Missense 19:9811530-9811530 - TCGA-26-5135 COSM2157046 c.871G>A p.G291R Substitution - Missense 19:9811006-9811006 - T3503 COSM1004378 c.790G>A p.V264I Substitution - Missense 19:9811087-9811087 - TCGA-EE-A3JD-06 COSM4395323 c.492C>T p.F164F Substitution - coding silent 19:9811385-9811385 - TCGA-26-5135-01 COSM2157046 c.871G>A p.G291R Substitution - Missense 19:9811006-9811006 - 61 COSM5741408 c.725C>T p.A242V Substitution - Missense 19:9811152-9811152 - CCK81 COSM2702429 c.823C>A p.L275I Substitution - Missense 19:9811054-9811054 - SNUH_G16_S1 COSM4001086 c.265T>C p.L89L Substitution - coding silent 19:9811612-9811612 - TCGA-HU-A4G8-01 COSM4083673 c.479G>A p.R160H Substitution - Missense 19:9811398-9811398 - TCGA-AA-3715-01 COSM293636 c.262delC p.Q88fs*7 Deletion - Frameshift 19:9811615-9811615 - PD3441a COSM51968 c.188T>A p.L63H Substitution - Missense 19:9811689-9811689 - NCI-H2126 COSM22087 c.97C>T p.R33C Substitution - Missense 19:9818607-9818607 - P55 COSM328727 c.978G>A p.M326I Substitution - Missense 19:9810899-9810899 - TCGA-19-2631-01 COSM2156438 c.469G>A p.V157M Substitution - Missense 19:9811408-9811408 - T24 COSM2156438 c.469G>A p.V157M Substitution - Missense 19:9811408-9811408 - TCGA-AG-A002-01 COSM260892 c.435G>T p.Q145H Substitution - Missense 19:9811442-9811442 - LC_S44 COSM1189862 c.626T>G p.V209G Substitution - Missense 19:9811251-9811251 - TCGA-D1-A0ZZ-01 COSM1004383 c.245C>T p.S82F Substitution - Missense 19:9811632-9811632 - TCGA-D1-A160-01 COSM1004377 c.843G>A p.M281I Substitution - Missense 19:9811034-9811034 - ESCC_BICR_070T COSM5444975 c.277C>T p.L93L Substitution - coding silent 19:9811600-9811600 - KYSE-410 COSM2702430 c.669C>G p.I223M Substitution - Missense 19:9811208-9811208 - CSCC-15-T COSM4558828 c.781G>A p.G261S Substitution - Missense 19:9811096-9811096 - S00472 COSM5657795 c.897G>C p.A299A Substitution - coding silent 19:9810980-9810980 - TCGA-AA-3968-01 COSM5116755 c.783T>C p.G261G Substitution - coding silent 19:9811094-9811094 - ESCC_BICR_070T COSM5444974 c.340C>G p.L114V Substitution - Missense 19:9811537-9811537 - TCGA-BR-6452-01 COSM4083674 c.463T>C p.C155R Substitution - Missense 19:9811414-9811414 - CHC433T COSM3766472 c.363C>A p.S121R Substitution - Missense 19:9811514-9811514 -

Mutation - CGAP UNIGENE CYTOBAND OMIM SNP Hs.12439 19p13.2 609079

Mutation - IntOGen Mutated from(ref) Mutated to(alt) Consequence Type AA Mutation CDS Mutation Chr Pos Cancer C A Missense p.R228L c.683G>T 19 9921870 LUAD C T 3-UTRSNV . c.978+77G>A 19 9921498 CM C T Missense p.E135K c.403G>A 19 9922150 LUAD C T Missense p.G291R c.871G>A 19 9921682 GBM C T Missense p.M281I c.843G>A 19 9921710 UCEC C T Missense p.R234Q c.701G>A 19 9921852 GBM C T Missense p.V157M c.469G>A 19 9922084 GBM C T Missense p.V264I c.790G>A 19 9921763 UCEC G A Missense p.S180L c.539C>T 19 9922014 BRCA G A Missense p.S82F c.245C>T 19 9922308 UCEC G A Nonsense p.R228* c.682C>T 19 9921871 CM G A Synonymous p.F164F c.492C>T 19 9922061 CM G A Synonymous p.L275L c.825C>T 19 9921728 CM G A Synonymous p.P162P c.486C>T 19 9922067 UCEC - G IntronicInsertion . c.87-3dupC 19 9929296 GBM T C Missense p.E135G c.404A>G 19 9922149 STAD