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 219129789 219129789 + Missense_Mutation SNP C C G TCGA-FJ-A3Z7-01A-12D-A23M-08 TCGA-FJ-A3Z7-10A-01D-A23K-08 g.chr2:219129789C>G c.1183G>C c.(1183-1185)Gac>Cac p.D395H BLCA 2 219129801 219129801 + Missense_Mutation SNP G G A TCGA-ZF-AA53-01A-11D-A391-08 TCGA-ZF-AA53-10A-01D-A394-08 g.chr2:219129801G>A c.1171C>T c.(1171-1173)Cgc>Tgc p.R391C BLCA 2 219131678 219131678 + Silent SNP G G A TCGA-ZF-A9R7-01A-11D-A38G-08 TCGA-ZF-A9R7-10A-01D-A38J-08 g.chr2:219131678G>A c.426C>T c.(424-426)ttC>ttT p.F142F BLCA 2 219134734 219134734 + Missense_Mutation SNP C C G TCGA-4Z-AA7Q-01A-11D-A391-08 TCGA-4Z-AA7Q-10A-01D-A394-08 g.chr2:219134734C>G c.76G>C c.(76-78)Gag>Cag p.E26Q CESC 2 219134255 219134255 + Missense_Mutation SNP C C T TCGA-IR-A3LL-01A-11D-A20U-09 TCGA-IR-A3LL-10A-01D-A20U-09 g.chr2:219134255C>T c.124G>A c.(124-126)Gac>Aac p.D42N CESC 2 219134716 219134716 + Missense_Mutation SNP C C G TCGA-JW-A5VL-01A-11D-A28B-09 TCGA-JW-A5VL-10A-01D-A28E-09 g.chr2:219134716C>G c.94G>C c.(94-96)Gaa>Caa p.E32Q COAD 2 219131181 219131181 + Nonsense_Mutation SNP G G A TCGA-G4-6628-01A-11D-1835-10 TCGA-G4-6628-10A-01D-1835-10 g.chr2:219131181G>A c.664C>T c.(664-666)Cga>Tga p.R222* COAD 2 219134766 219134766 + Frame_Shift_Del DEL G G - TCGA-A6-6781-01A-22D-1924-10 TCGA-A6-6781-10A-01D-1924-10 g.chr2:219134766delG c.44delC c.(43-45)ccafs p.P15fs COAD 2 219134766 219134766 + Frame_Shift_Del DEL G G - TCGA-G4-6309-01A-21D-1835-10 TCGA-G4-6309-10A-01D-1835-10 g.chr2:219134766delG c.44delC c.(43-45)ccafs p.P15fs COADREAD 2 219131181 219131181 + Nonsense_Mutation SNP G G A TCGA-G4-6628-01A-11D-1835-10 TCGA-G4-6628-10A-01D-1835-10 g.chr2:219131181G>A c.664C>T c.(664-666)Cga>Tga p.R222* COADREAD 2 219134766 219134766 + Frame_Shift_Del DEL G G - TCGA-A6-6781-01A-22D-1924-10 TCGA-A6-6781-10A-01D-1924-10 g.chr2:219134766delG c.44delC c.(43-45)ccafs p.P15fs COADREAD 2 219134766 219134766 + Frame_Shift_Del DEL G G - TCGA-G4-6309-01A-21D-1835-10 TCGA-G4-6309-10A-01D-1835-10 g.chr2:219134766delG c.44delC c.(43-45)ccafs p.P15fs ESCA 2 219129888 219129888 + Missense_Mutation SNP C C T TCGA-XP-A8T8-01A-11D-A36J-09 TCGA-XP-A8T8-10A-01D-A36M-09 g.chr2:219129888C>T c.1084G>A c.(1084-1086)Gtg>Atg p.V362M ESCA 2 219131642 219131642 + Missense_Mutation SNP C C T TCGA-L5-A88S-01A-11D-A36J-09 TCGA-L5-A88S-11A-21D-A36M-09 g.chr2:219131642C>T c.462G>A c.(460-462)atG>atA p.M154I ESCA 2 219131708 219131708 + Splice_Site SNP G G T TCGA-LN-A9FQ-01A-31D-A387-09 TCGA-LN-A9FQ-10A-01D-A38A-09 g.chr2:219131708G>T c.396C>A c.(394-396)ggC>ggA p.G132G GBM 2 219131281 219131281 + Silent SNP G G A TCGA-12-0615-01A-01D-1492-08 TCGA-12-0615-10A-01D-1492-08 g.chr2:219131281G>A c.564C>T c.(562-564)gtC>gtT p.V188V GBMLGG 2 219131281 219131281 + Silent SNP G G A TCGA-12-0615-01A-01D-1492-08 TCGA-12-0615-10A-01D-1492-08 g.chr2:219131281G>A c.564C>T c.(562-564)gtC>gtT p.V188V GBMLGG 2 219134766 219134766 + Frame_Shift_Del DEL G G - TCGA-HT-7470-01A-12D-2086-08 TCGA-HT-7470-10A-01D-2086-08 g.chr2:219134766delG c.44delC c.(43-45)ccafs p.P15fs HNSC 2 219131638 219131638 + Missense_Mutation SNP C C T TCGA-CV-6938-01A-11D-1912-08 TCGA-CV-6938-10A-01D-1912-08 g.chr2:219131638C>T c.466G>A c.(466-468)Ggc>Agc p.G156S LGG 2 219134766 219134766 + Frame_Shift_Del DEL G G - TCGA-HT-7470-01A-12D-2086-08 TCGA-HT-7470-10A-01D-2086-08 g.chr2:219134766delG c.44delC c.(43-45)ccafs p.P15fs LIHC 2 219134201 219134201 + Missense_Mutation SNP C C T TCGA-2Y-A9H1-01A-11D-A382-10 TCGA-2Y-A9H1-10A-01D-A385-10 g.chr2:219134201C>T c.178G>A c.(178-180)Ggc>Agc p.G60S LUAD 2 219129318 219129318 + Missense_Mutation SNP C C A TCGA-55-6982-01A-11D-1945-08 TCGA-55-6982-11A-01D-1945-08 g.chr2:219129318C>A c.1243G>T c.(1243-1245)Gtg>Ttg p.V415L LUAD 2 219129810 219129810 + Silent SNP G G T TCGA-86-A4JF-01A-11D-A24P-08 TCGA-86-A4JF-10A-01D-A24P-08 g.chr2:219129810G>T c.1162C>A c.(1162-1164)Cgg>Agg p.R388R LUAD 2 219130619 219130619 + Missense_Mutation SNP C C T TCGA-95-7039-01A-11D-1945-08 TCGA-95-7039-10A-01D-1946-08 g.chr2:219130619C>T c.814G>A c.(814-816)Ggc>Agc p.G272S LUAD 2 219131295 219131295 + Missense_Mutation SNP G G A TCGA-05-4382-01A-01D-1931-08 TCGA-05-4382-10A-01D-1265-08 g.chr2:219131295G>A c.550C>T c.(550-552)Cct>Tct p.P184S LUAD 2 219132260 219132260 + Silent SNP G G A TCGA-05-4422-01A-01D-1265-08 TCGA-05-4422-10A-01D-1265-08 g.chr2:219132260G>A c.351C>T c.(349-351)ttC>ttT p.F117F OV 2 219130790 219130790 + Nonsense_Mutation SNP T T A TCGA-23-1117-01A-02W-0488-09 TCGA-23-1117-10A-01W-0488-09 g.chr2:219130790T>A c.760A>T c.(760-762)Aaa>Taa p.K254* OV 2 219134725 219134725 + Nonsense_Mutation SNP C C A TCGA-42-2587-01A-01D-1526-09 TCGA-42-2587-10A-01D-1526-09 g.chr2:219134725C>A c.85G>T c.(85-87)Gag>Tag p.E29* PAAD 2 219134766 219134766 + Frame_Shift_Del DEL G G - TCGA-2J-AAB4-01A-12D-A40W-08 TCGA-2J-AAB4-10A-01D-A40W-08 g.chr2:219134766delG c.44delC c.(43-45)ccafs p.P15fs PAAD 2 219134766 219134766 + Frame_Shift_Del DEL G G - TCGA-2L-AAQI-01A-12D-A397-08 TCGA-2L-AAQI-11A-11D-A39A-08 g.chr2:219134766delG c.44delC c.(43-45)ccafs p.P15fs PAAD 2 219134766 219134766 + Frame_Shift_Del DEL G G - TCGA-FB-A78T-01A-12D-A32N-08 TCGA-FB-A78T-10A-01D-A32N-08 g.chr2:219134766delG c.44delC c.(43-45)ccafs p.P15fs PAAD 2 219134766 219134766 + Frame_Shift_Del DEL G G - TCGA-HZ-8637-01A-11D-2396-08 TCGA-HZ-8637-10A-01D-2396-08 g.chr2:219134766delG c.44delC c.(43-45)ccafs p.P15fs PAAD 2 219134766 219134766 + Frame_Shift_Del DEL G G - TCGA-HZ-A8P0-01A-11D-A36O-08 TCGA-HZ-A8P0-10A-01D-A367-08 g.chr2:219134766delG c.44delC c.(43-45)ccafs p.P15fs PAAD 2 219134766 219134766 + Frame_Shift_Del DEL G G - TCGA-RB-AA9M-01A-11D-A397-08 TCGA-RB-AA9M-10A-01D-A39A-08 g.chr2:219134766delG c.44delC c.(43-45)ccafs p.P15fs PRAD 2 219129773 219129773 + Missense_Mutation SNP G G A TCGA-YL-A8SA-01A-21D-A377-08 TCGA-YL-A8SA-10A-01D-A37A-08 g.chr2:219129773G>A c.1199C>T c.(1198-1200)aCg>aTg p.T400M SKCM 2 219130370 219130370 + Silent SNP G G A TCGA-EE-A3JA-06A-11D-A20D-08 TCGA-EE-A3JA-10A-01D-A20D-08 g.chr2:219130370G>A c.915C>T c.(913-915)tcC>tcT p.S305S SKCM 2 219131205 219131205 + Missense_Mutation SNP G G A TCGA-FS-A1ZR-06A-21D-A197-08 TCGA-FS-A1ZR-10A-01D-A199-08 g.chr2:219131205G>A c.640C>T c.(640-642)Ccc>Tcc p.P214S SKCM 2 219131647 219131647 + Missense_Mutation SNP C C G TCGA-ER-A42L-06A-11D-A24R-08 TCGA-ER-A42L-10A-01D-A24R-08 g.chr2:219131647C>G c.457G>C c.(457-459)Gac>Cac p.D153H SKCM 2 219131697 219131697 + Missense_Mutation SNP G G A TCGA-EE-A2MP-06A-11D-A197-08 TCGA-EE-A2MP-10A-01D-A199-08 g.chr2:219131697G>A c.407C>T c.(406-408)tCt>tTt p.S136F SKCM 2 219134173 219134173 + Missense_Mutation SNP G G A TCGA-EE-A2MJ-06A-11D-A197-08 TCGA-EE-A2MJ-10A-01D-A199-08 g.chr2:219134173G>A c.206C>T c.(205-207)cCc>cTc p.P69L

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 219129789 219129789 single base substitution C G downstream_gene_variant BLCA-US 2 219129789 219129789 single base substitution C G exon_variant BLCA-US 2 219129789 219129789 single base substitution C G missense_variant D149H 445G>C BLCA-US 2 219129789 219129789 single base substitution C G missense_variant D376H 1126G>C BLCA-US 2 219129789 219129789 single base substitution C G missense_variant D395H 1183G>C BLCA-US 2 219129789 219129789 single base substitution C G missense_variant D396H 1186G>C BRCA-EU 2 219124891 219124894 deletion of <=200bp ATTT - downstream_gene_variant BRCA-EU 2 219128261 219128261 single base substitution A G downstream_gene_variant BRCA-EU 2 219128276 219128314 deletion of <=200bp CCCGTAGCCATGGGGCTGGGCGATCAGCGCTACACAGCC - downstream_gene_variant BRCA-EU 2 219129483 219129483 single base substitution A G downstream_gene_variant BRCA-EU 2 219129483 219129483 single base substitution A G intron_variant BRCA-EU 2 219130426 219130426 single base substitution G C downstream_gene_variant BRCA-EU 2 219130426 219130426 single base substitution G C exon_variant BRCA-EU 2 219130426 219130426 single base substitution G C intron_variant BRCA-EU 2 219131003 219131003 single base substitution G T downstream_gene_variant BRCA-EU 2 219131003 219131003 single base substitution G T exon_variant BRCA-EU 2 219131003 219131003 single base substitution G T intron_variant BRCA-EU 2 219131003 219131003 single base substitution G T upstream_gene_variant BRCA-EU 2 219133100 219133100 single base substitution C T intron_variant BRCA-EU 2 219133100 219133100 single base substitution C T upstream_gene_variant BRCA-EU 2 219133662 219133662 single base substitution C T intron_variant BRCA-EU 2 219133662 219133662 single base substitution C T upstream_gene_variant BRCA-EU 2 219134258 219134258 single base substitution C T missense_variant D22N 64G>A BRCA-EU 2 219134258 219134258 single base substitution C T missense_variant D42N 124G>A BRCA-EU 2 219134258 219134258 single base substitution C T splice_acceptor_variant BRCA-EU 2 219134258 219134258 single base substitution C T upstream_gene_variant BRCA-EU 2 219135626 219135626 single base substitution G A upstream_gene_variant BRCA-EU 2 219137429 219137429 single base substitution A G upstream_gene_variant BRCA-FR 2 219134258 219134258 single base substitution C T missense_variant D22N 64G>A BRCA-FR 2 219134258 219134258 single base substitution C T missense_variant D42N 124G>A BRCA-FR 2 219134258 219134258 single base substitution C T splice_acceptor_variant BRCA-FR 2 219134258 219134258 single base substitution C T upstream_gene_variant BRCA-UK 2 219129483 219129483 single base substitution A G downstream_gene_variant BRCA-UK 2 219129483 219129483 single base substitution A G intron_variant BRCA-UK 2 219137788 219137788 single base substitution G A upstream_gene_variant BRCA-US 2 219128275 219128275 single base substitution G A downstream_gene_variant BRCA-US 2 219137293 219137293 single base substitution G T upstream_gene_variant BTCA-JP 2 219130178 219130178 single base substitution G T downstream_gene_variant BTCA-JP 2 219130178 219130178 single base substitution G T exon_variant BTCA-JP 2 219130178 219130178 single base substitution G T synonymous_variant P311P 933C>A BTCA-JP 2 219130178 219130178 single base substitution G T synonymous_variant P330P 990C>A BTCA-JP 2 219130178 219130178 single base substitution G T synonymous_variant P331P 993C>A BTCA-JP 2 219130178 219130178 single base substitution G T synonymous_variant P84P 252C>A BTCA-JP 2 219135493 219135493 deletion of <=200bp C - upstream_gene_variant BTCA-JP 2 219139111 219139111 single base substitution G A upstream_gene_variant CESC-US 2 219128094 219128094 single base substitution G A downstream_gene_variant CESC-US 2 219134255 219134255 single base substitution C T missense_variant D23N 67G>A CESC-US 2 219134255 219134255 single base substitution C T missense_variant D42N 124G>A CESC-US 2 219134255 219134255 single base substitution C T missense_variant D43N 127G>A CESC-US 2 219134255 219134255 single base substitution C T splice_region_variant CESC-US 2 219134255 219134255 single base substitution C T upstream_gene_variant CESC-US 2 219134716 219134716 single base substitution C G exon_variant CESC-US 2 219134716 219134716 single base substitution C G missense_variant E32Q 94G>C CESC-US 2 219134716 219134716 single base substitution C G upstream_gene_variant CLLE-ES 2 219126195 219126195 single base substitution G A downstream_gene_variant CLLE-ES 2 219128290 219128290 single base substitution G T downstream_gene_variant CLLE-ES 2 219130588 219130588 single base substitution C G downstream_gene_variant CLLE-ES 2 219130588 219130588 single base substitution C G exon_variant CLLE-ES 2 219130588 219130588 single base substitution C G missense_variant C263S 788G>C CLLE-ES 2 219130588 219130588 single base substitution C G missense_variant C282S 845G>C CLLE-ES 2 219130588 219130588 single base substitution C G missense_variant C283S 848G>C CLLE-ES 2 219130588 219130588 single base substitution C G missense_variant C36S 107G>C CLLE-ES 2 219130591 219130591 single base substitution T G downstream_gene_variant CLLE-ES 2 219130591 219130591 single base substitution T G exon_variant CLLE-ES 2 219130591 219130591 single base substitution T G missense_variant D262A 785A>C CLLE-ES 2 219130591 219130591 single base substitution T G missense_variant D281A 842A>C CLLE-ES 2 219130591 219130591 single base substitution T G missense_variant D282A 845A>C CLLE-ES 2 219130591 219130591 single base substitution T G missense_variant D35A 104A>C COAD-US 2 219127982 219127982 single base substitution G T downstream_gene_variant COAD-US 2 219129803 219129803 single base substitution C T downstream_gene_variant COAD-US 2 219129803 219129803 single base substitution C T exon_variant COAD-US 2 219129803 219129803 single base substitution C T missense_variant G144D 431G>A COAD-US 2 219129803 219129803 single base substitution C T missense_variant G371D 1112G>A COAD-US 2 219129803 219129803 single base substitution C T missense_variant G390D 1169G>A COAD-US 2 219129803 219129803 single base substitution C T missense_variant G391D 1172G>A COAD-US 2 219130855 219130855 single base substitution A G downstream_gene_variant COAD-US 2 219130855 219130855 single base substitution A G exon_variant COAD-US 2 219130855 219130855 single base substitution A G missense_variant V186A 557T>C COAD-US 2 219130855 219130855 single base substitution A G missense_variant V213A 638T>C COAD-US 2 219130855 219130855 single base substitution A G missense_variant V232A 695T>C COAD-US 2 219130855 219130855 single base substitution A G missense_variant V233A 698T>C COAD-US 2 219130855 219130855 single base substitution A G upstream_gene_variant COAD-US 2 219131181 219131181 single base substitution G A downstream_gene_variant COAD-US 2 219131181 219131181 single base substitution G A exon_variant COAD-US 2 219131181 219131181 single base substitution G A stop_gained R176* 526C>T COAD-US 2 219131181 219131181 single base substitution G A stop_gained R203* 607C>T COAD-US 2 219131181 219131181 single base substitution G A stop_gained R222* 664C>T COAD-US 2 219131181 219131181 single base substitution G A stop_gained R223* 667C>T COAD-US 2 219131181 219131181 single base substitution G A upstream_gene_variant COAD-US 2 219134766 219134766 deletion of <=200bp G - exon_variant COAD-US 2 219134766 219134766 deletion of <=200bp G - frameshift_variant P15 COAD-US 2 219134766 219134766 deletion of <=200bp G - upstream_gene_variant COAD-US 2 219137471 219137471 deletion of <=200bp G - upstream_gene_variant COCA-CN 2 219127775 219127775 single base substitution C T downstream_gene_variant COCA-CN 2 219127977 219127977 single base substitution C T downstream_gene_variant COCA-CN 2 219130421 219130421 single base substitution G C downstream_gene_variant COCA-CN 2 219130421 219130421 single base substitution G C exon_variant COCA-CN 2 219130421 219130421 single base substitution G C intron_variant COCA-CN 2 219130613 219130613 single base substitution A G downstream_gene_variant COCA-CN 2 219130613 219130613 single base substitution A G exon_variant COCA-CN 2 219130613 219130613 single base substitution A G synonymous_variant L255L 763T>C COCA-CN 2 219130613 219130613 single base substitution A G synonymous_variant L274L 820T>C COCA-CN 2 219130613 219130613 single base substitution A G synonymous_variant L275L 823T>C COCA-CN 2 219130613 219130613 single base substitution A G synonymous_variant L28L 82T>C COCA-CN 2 219134547 219134547 single base substitution G A intron_variant COCA-CN 2 219134547 219134547 single base substitution G A upstream_gene_variant COCA-CN 2 219134950 219134950 single base substitution C T 5_prime_UTR_variant COCA-CN 2 219134950 219134950 single base substitution C T upstream_gene_variant COCA-CN 2 219137400 219137400 single base substitution A T upstream_gene_variant COCA-CN 2 219138989 219138989 single base substitution C A upstream_gene_variant ESAD-UK 2 219132157 219132157 single base substitution C T exon_variant ESAD-UK 2 219132157 219132157 single base substitution C T intron_variant ESAD-UK 2 219132157 219132157 single base substitution C T upstream_gene_variant ESAD-UK 2 219133910 219133910 single base substitution T C intron_variant ESAD-UK 2 219133910 219133910 single base substitution T C upstream_gene_variant ESAD-UK 2 219134430 219134430 single base substitution C A 5_prime_UTR_variant ESAD-UK 2 219134430 219134430 single base substitution C A intron_variant ESAD-UK 2 219134430 219134430 single base substitution C A upstream_gene_variant ESAD-UK 2 219134452 219134452 single base substitution G A 5_prime_UTR_variant ESAD-UK 2 219134452 219134452 single base substitution G A intron_variant ESAD-UK 2 219134452 219134452 single base substitution G A upstream_gene_variant ESAD-UK 2 219135296 219135296 deletion of <=200bp G - upstream_gene_variant ESCA-CN 2 219130802 219130802 single base substitution T C downstream_gene_variant ESCA-CN 2 219130802 219130802 single base substitution T C exon_variant ESCA-CN 2 219130802 219130802 single base substitution T C missense_variant I1V 1A>G ESCA-CN 2 219130802 219130802 single base substitution T C missense_variant I231V 691A>G ESCA-CN 2 219130802 219130802 single base substitution T C missense_variant I250V 748A>G ESCA-CN 2 219130802 219130802 single base substitution T C missense_variant I251V 751A>G ESCA-CN 2 219130802 219130802 single base substitution T C upstream_gene_variant ESCA-CN 2 219134263 219134263 single base substitution T C missense_variant K20R 59A>G ESCA-CN 2 219134263 219134263 single base substitution T C splice_region_variant ESCA-CN 2 219134263 219134263 single base substitution T C upstream_gene_variant GBM-US 2 219128407 219128410 deletion of <=200bp CAGC - downstream_gene_variant GBM-US 2 219131281 219131281 single base substitution G A downstream_gene_variant GBM-US 2 219131281 219131281 single base substitution G A exon_variant GBM-US 2 219131281 219131281 single base substitution G A synonymous_variant V142V 426C>T GBM-US 2 219131281 219131281 single base substitution G A synonymous_variant V169V 507C>T GBM-US 2 219131281 219131281 single base substitution G A synonymous_variant V188V 564C>T GBM-US 2 219131281 219131281 single base substitution G A synonymous_variant V189V 567C>T GBM-US 2 219131281 219131281 single base substitution G A upstream_gene_variant KIRC-US 2 219127645 219127645 single base substitution G T downstream_gene_variant LGG-US 2 219134766 219134766 deletion of <=200bp G - exon_variant LGG-US 2 219134766 219134766 deletion of <=200bp G - frameshift_variant P15 LGG-US 2 219134766 219134766 deletion of <=200bp G - upstream_gene_variant LICA-FR 2 219124669 219124669 single base substitution C A downstream_gene_variant LICA-FR 2 219138827 219138827 single base substitution C G upstream_gene_variant LIHC-US 2 219127715 219127715 single base substitution T G downstream_gene_variant LIHC-US 2 219127770 219127770 single base substitution G T downstream_gene_variant LIHC-US 2 219134700 219134700 single base substitution G C exon_variant LIHC-US 2 219134700 219134700 single base substitution G C missense_variant P37R 110C>G LIHC-US 2 219134700 219134700 single base substitution G C upstream_gene_variant LINC-JP 2 219129769 219129769 single base substitution A G downstream_gene_variant LINC-JP 2 219129769 219129769 single base substitution A G exon_variant LINC-JP 2 219129769 219129769 single base substitution A G synonymous_variant A155A 465T>C LINC-JP 2 219129769 219129769 single base substitution A G synonymous_variant A382A 1146T>C LINC-JP 2 219129769 219129769 single base substitution A G synonymous_variant A401A 1203T>C LINC-JP 2 219129769 219129769 single base substitution A G synonymous_variant A402A 1206T>C LINC-JP 2 219129974 219129974 single base substitution G A downstream_gene_variant LINC-JP 2 219129974 219129974 single base substitution G A intron_variant LINC-JP 2 219130697 219130697 single base substitution G A downstream_gene_variant LINC-JP 2 219130697 219130697 single base substitution G A exon_variant LINC-JP 2 219130697 219130697 single base substitution G A intron_variant LINC-JP 2 219130697 219130697 single base substitution G A upstream_gene_variant LINC-JP 2 219131574 219131574 single base substitution A G downstream_gene_variant LINC-JP 2 219131574 219131574 single base substitution A G exon_variant LINC-JP 2 219131574 219131574 single base substitution A G missense_variant L131P 392T>C LINC-JP 2 219131574 219131574 single base substitution A G missense_variant L158P 473T>C LINC-JP 2 219131574 219131574 single base substitution A G missense_variant L177P 530T>C LINC-JP 2 219131574 219131574 single base substitution A G missense_variant L178P 533T>C LINC-JP 2 219131574 219131574 single base substitution A G upstream_gene_variant LINC-JP 2 219132220 219132220 single base substitution C T exon_variant LINC-JP 2 219132220 219132220 single base substitution C T missense_variant A112T 334G>A LINC-JP 2 219132220 219132220 single base substitution C T missense_variant A131T 391G>A LINC-JP 2 219132220 219132220 single base substitution C T missense_variant A132T 394G>A LINC-JP 2 219132220 219132220 single base substitution C T missense_variant A85T 253G>A LINC-JP 2 219132220 219132220 single base substitution C T upstream_gene_variant LINC-JP 2 219134659 219134659 deletion of <=200bp T - intron_variant LINC-JP 2 219134659 219134659 deletion of <=200bp T - upstream_gene_variant LINC-JP 2 219137548 219137548 single base substitution T A upstream_gene_variant LINC-JP 2 219138923 219138923 single base substitution T G upstream_gene_variant LINC-JP 2 219138928 219138928 single base substitution T G upstream_gene_variant LINC-JP 2 219139105 219139105 single base substitution A G upstream_gene_variant LIRI-JP 2 219124077 219124077 single base substitution C A downstream_gene_variant LIRI-JP 2 219124728 219124728 single base substitution T C downstream_gene_variant LIRI-JP 2 219125312 219125312 single base substitution C G downstream_gene_variant LIRI-JP 2 219125780 219125780 single base substitution C T downstream_gene_variant LIRI-JP 2 219129573 219129573 single base substitution C T downstream_gene_variant LIRI-JP 2 219129573 219129573 single base substitution C T intron_variant LIRI-JP 2 219129893 219129893 single base substitution C A downstream_gene_variant LIRI-JP 2 219129893 219129893 single base substitution C A exon_variant LIRI-JP 2 219129893 219129893 single base substitution C A missense_variant G114V 341G>T LIRI-JP 2 219129893 219129893 single base substitution C A missense_variant G341V 1022G>T LIRI-JP 2 219129893 219129893 single base substitution C A missense_variant G360V 1079G>T LIRI-JP 2 219129893 219129893 single base substitution C A missense_variant G361V 1082G>T LIRI-JP 2 219130967 219130967 single base substitution C G downstream_gene_variant LIRI-JP 2 219130967 219130967 single base substitution C G exon_variant LIRI-JP 2 219130967 219130967 single base substitution C G intron_variant LIRI-JP 2 219130967 219130967 single base substitution C G upstream_gene_variant LIRI-JP 2 219134927 219134927 single base substitution C T 5_prime_UTR_variant LIRI-JP 2 219134927 219134927 single base substitution C T upstream_gene_variant LIRI-JP 2 219135496 219135496 single base substitution C T upstream_gene_variant LIRI-JP 2 219138790 219138790 single base substitution G A upstream_gene_variant LIRI-JP 2 219139844 219139844 single base substitution T C upstream_gene_variant LIRI-JP 2 219139858 219139858 single base substitution T C upstream_gene_variant LUSC-KR 2 219130802 219130802 single base substitution T C downstream_gene_variant LUSC-KR 2 219130802 219130802 single base substitution T C exon_variant LUSC-KR 2 219130802 219130802 single base substitution T C missense_variant I1V 1A>G LUSC-KR 2 219130802 219130802 single base substitution T C missense_variant I231V 691A>G LUSC-KR 2 219130802 219130802 single base substitution T C missense_variant I250V 748A>G LUSC-KR 2 219130802 219130802 single base substitution T C missense_variant I251V 751A>G LUSC-KR 2 219130802 219130802 single base substitution T C upstream_gene_variant LUSC-KR 2 219131567 219131567 single base substitution T C downstream_gene_variant LUSC-KR 2 219131567 219131567 single base substitution T C exon_variant LUSC-KR 2 219131567 219131567 single base substitution T C splice_region_variant LUSC-KR 2 219131567 219131567 single base substitution T C upstream_gene_variant LUSC-KR 2 219132988 219132988 single base substitution C A intron_variant LUSC-KR 2 219132988 219132988 single base substitution C A upstream_gene_variant MALY-DE 2 219124592 219124595 deletion of <=200bp CTCA - downstream_gene_variant MALY-DE 2 219127223 219127223 single base substitution A G downstream_gene_variant MALY-DE 2 219132623 219132623 single base substitution T C intron_variant MALY-DE 2 219132623 219132623 single base substitution T C upstream_gene_variant MALY-DE 2 219134454 219134454 single base substitution G A 5_prime_UTR_variant MALY-DE 2 219134454 219134454 single base substitution G A intron_variant MALY-DE 2 219134454 219134454 single base substitution G A upstream_gene_variant MELA-AU 2 219124555 219124555 single base substitution G A downstream_gene_variant MELA-AU 2 219124801 219124801 single base substitution G A downstream_gene_variant MELA-AU 2 219124951 219124951 single base substitution G A downstream_gene_variant MELA-AU 2 219125080 219125080 single base substitution G A downstream_gene_variant MELA-AU 2 219125749 219125749 single base substitution C T downstream_gene_variant MELA-AU 2 219126665 219126665 single base substitution C T downstream_gene_variant MELA-AU 2 219126716 219126716 single base substitution C T downstream_gene_variant MELA-AU 2 219126884 219126884 single base substitution G A downstream_gene_variant MELA-AU 2 219126897 219126897 single base substitution G A downstream_gene_variant MELA-AU 2 219127494 219127494 single base substitution G A downstream_gene_variant MELA-AU 2 219127952 219127952 single base substitution G A downstream_gene_variant MELA-AU 2 219129131 219129131 single base substitution G A 3_prime_UTR_variant MELA-AU 2 219129131 219129131 single base substitution G A downstream_gene_variant MELA-AU 2 219129131 219129131 single base substitution G A exon_variant MELA-AU 2 219129477 219129478 multiple base substitution (>=2bp and <=200bp) GG AA downstream_gene_variant MELA-AU 2 219129477 219129478 multiple base substitution (>=2bp and <=200bp) GG AA intron_variant MELA-AU 2 219129718 219129718 single base substitution C T downstream_gene_variant MELA-AU 2 219129718 219129718 single base substitution C T intron_variant MELA-AU 2 219129938 219129938 single base substitution G A downstream_gene_variant MELA-AU 2 219129938 219129938 single base substitution G A intron_variant MELA-AU 2 219130496 219130496 single base substitution G A downstream_gene_variant MELA-AU 2 219130496 219130496 single base substitution G A exon_variant MELA-AU 2 219130496 219130496 single base substitution G A intron_variant MELA-AU 2 219130876 219130876 single base substitution G A downstream_gene_variant MELA-AU 2 219130876 219130876 single base substitution G A exon_variant MELA-AU 2 219130876 219130876 single base substitution G A intron_variant MELA-AU 2 219130876 219130876 single base substitution G A splice_region_variant MELA-AU 2 219130876 219130876 single base substitution G A upstream_gene_variant MELA-AU 2 219131337 219131337 single base substitution G A downstream_gene_variant MELA-AU 2 219131337 219131337 single base substitution G A exon_variant MELA-AU 2 219131337 219131337 single base substitution G A intron_variant MELA-AU 2 219131337 219131337 single base substitution G A upstream_gene_variant MELA-AU 2 219131367 219131367 single base substitution C T downstream_gene_variant MELA-AU 2 219131367 219131367 single base substitution C T exon_variant MELA-AU 2 219131367 219131367 single base substitution C T intron_variant MELA-AU 2 219131367 219131367 single base substitution C T upstream_gene_variant MELA-AU 2 219132015 219132015 single base substitution G A downstream_gene_variant MELA-AU 2 219132015 219132015 single base substitution G A intron_variant MELA-AU 2 219132015 219132015 single base substitution G A upstream_gene_variant MELA-AU 2 219132661 219132661 single base substitution G A intron_variant MELA-AU 2 219132661 219132661 single base substitution G A upstream_gene_variant MELA-AU 2 219133187 219133187 single base substitution G A intron_variant MELA-AU 2 219133187 219133187 single base substitution G A upstream_gene_variant MELA-AU 2 219134450 219134450 single base substitution G A 5_prime_UTR_variant MELA-AU 2 219134450 219134450 single base substitution G A intron_variant MELA-AU 2 219134450 219134450 single base substitution G A upstream_gene_variant MELA-AU 2 219134475 219134475 single base substitution G A intron_variant MELA-AU 2 219134475 219134475 single base substitution G A upstream_gene_variant MELA-AU 2 219134555 219134555 single base substitution G A intron_variant MELA-AU 2 219134555 219134555 single base substitution G A upstream_gene_variant MELA-AU 2 219134650 219134650 single base substitution C T intron_variant MELA-AU 2 219134650 219134650 single base substitution C T upstream_gene_variant MELA-AU 2 219134936 219134936 single base substitution G A 5_prime_UTR_variant MELA-AU 2 219134936 219134936 single base substitution G A upstream_gene_variant MELA-AU 2 219134964 219134964 single base substitution G A 5_prime_UTR_premature_start_codon_gain_variant MELA-AU 2 219134964 219134964 single base substitution G A upstream_gene_variant MELA-AU 2 219135005 219135005 single base substitution G A upstream_gene_variant MELA-AU 2 219135032 219135032 single base substitution G A upstream_gene_variant MELA-AU 2 219135105 219135105 single base substitution C T upstream_gene_variant MELA-AU 2 219135133 219135133 single base substitution C T upstream_gene_variant MELA-AU 2 219135185 219135185 single base substitution G T upstream_gene_variant MELA-AU 2 219135194 219135194 single base substitution G A upstream_gene_variant MELA-AU 2 219135616 219135616 single base substitution C T upstream_gene_variant MELA-AU 2 219135709 219135709 single base substitution C T upstream_gene_variant MELA-AU 2 219137059 219137059 single base substitution C T upstream_gene_variant MELA-AU 2 219137529 219137529 single base substitution G A upstream_gene_variant MELA-AU 2 219137999 219137999 insertion of <=200bp - T upstream_gene_variant MELA-AU 2 219138965 219138965 single base substitution C T upstream_gene_variant MELA-AU 2 219139278 219139278 single base substitution G T upstream_gene_variant MELA-AU 2 219139496 219139496 single base substitution A G upstream_gene_variant MELA-AU 2 219139878 219139879 multiple base substitution (>=2bp and <=200bp) GG AA upstream_gene_variant ORCA-IN 2 219138168 219138168 insertion of <=200bp - G upstream_gene_variant OV-AU 2 219131626 219131626 single base substitution C A downstream_gene_variant OV-AU 2 219131626 219131626 single base substitution C A exon_variant OV-AU 2 219131626 219131626 single base substitution C A missense_variant V114L 340G>T OV-AU 2 219131626 219131626 single base substitution C A missense_variant V141L 421G>T OV-AU 2 219131626 219131626 single base substitution C A missense_variant V160L 478G>T OV-AU 2 219131626 219131626 single base substitution C A missense_variant V161L 481G>T OV-AU 2 219131626 219131626 single base substitution C A upstream_gene_variant OV-AU 2 219135494 219135494 single base substitution C T upstream_gene_variant OV-US 2 219128185 219128185 single base substitution C G downstream_gene_variant OV-US 2 219130790 219130790 single base substitution T A downstream_gene_variant OV-US 2 219130790 219130790 single base substitution T A exon_variant OV-US 2 219130790 219130790 single base substitution T A stop_gained K235* 703A>T OV-US 2 219130790 219130790 single base substitution T A stop_gained K254* 760A>T OV-US 2 219130790 219130790 single base substitution T A stop_gained K255* 763A>T OV-US 2 219130790 219130790 single base substitution T A stop_gained K5* 13A>T OV-US 2 219130790 219130790 single base substitution T A upstream_gene_variant PACA-AU 2 219129978 219129978 single base substitution C A downstream_gene_variant PACA-AU 2 219129978 219129978 single base substitution C A intron_variant PACA-AU 2 219131467 219131467 single base substitution C T downstream_gene_variant PACA-AU 2 219131467 219131467 single base substitution C T exon_variant PACA-AU 2 219131467 219131467 single base substitution C T intron_variant PACA-AU 2 219131467 219131467 single base substitution C T upstream_gene_variant PACA-AU 2 219132015 219132015 single base substitution G C downstream_gene_variant PACA-AU 2 219132015 219132015 single base substitution G C intron_variant PACA-AU 2 219132015 219132015 single base substitution G C upstream_gene_variant PACA-AU 2 219134407 219134407 single base substitution A G 5_prime_UTR_variant PACA-AU 2 219134407 219134407 single base substitution A G intron_variant PACA-AU 2 219134407 219134407 single base substitution A G upstream_gene_variant PACA-AU 2 219137229 219137229 single base substitution C T upstream_gene_variant PACA-AU 2 219138175 219138175 single base substitution T G upstream_gene_variant PACA-AU 2 219138626 219138626 deletion of <=200bp G - upstream_gene_variant PACA-CA 2 219126415 219126415 single base substitution G T downstream_gene_variant PACA-CA 2 219126568 219126568 single base substitution G A downstream_gene_variant PACA-CA 2 219127910 219127910 single base substitution T C downstream_gene_variant PACA-CA 2 219129883 219129883 single base substitution C A downstream_gene_variant PACA-CA 2 219129883 219129883 single base substitution C A exon_variant PACA-CA 2 219129883 219129883 single base substitution C A missense_variant Q117H 351G>T PACA-CA 2 219129883 219129883 single base substitution C A missense_variant Q344H 1032G>T PACA-CA 2 219129883 219129883 single base substitution C A missense_variant Q363H 1089G>T PACA-CA 2 219129883 219129883 single base substitution C A missense_variant Q364H 1092G>T PACA-CA 2 219130508 219130508 single base substitution G C downstream_gene_variant PACA-CA 2 219130508 219130508 single base substitution G C exon_variant PACA-CA 2 219130508 219130508 single base substitution G C intron_variant PACA-CA 2 219133186 219133186 single base substitution G A intron_variant PACA-CA 2 219133186 219133186 single base substitution G A upstream_gene_variant PACA-CA 2 219135244 219135244 single base substitution G A upstream_gene_variant PACA-CA 2 219136926 219136926 insertion of <=200bp - A upstream_gene_variant PAEN-AU 2 219129028 219129028 single base substitution A C 3_prime_UTR_variant PAEN-AU 2 219129028 219129028 single base substitution A C downstream_gene_variant PAEN-AU 2 219129028 219129028 single base substitution A C exon_variant PAEN-AU 2 219137515 219137515 single base substitution C A upstream_gene_variant PBCA-DE 2 219123980 219123980 single base substitution C G downstream_gene_variant PBCA-DE 2 219124781 219124781 single base substitution G T downstream_gene_variant PRAD-US 2 219127538 219127538 single base substitution G A downstream_gene_variant READ-US 2 219128211 219128211 single base substitution C T downstream_gene_variant READ-US 2 219128239 219128239 single base substitution C T downstream_gene_variant READ-US 2 219137484 219137486 deletion of <=200bp GAG - upstream_gene_variant RECA-EU 2 219125912 219125912 single base substitution G A downstream_gene_variant RECA-EU 2 219126343 219126343 single base substitution A G downstream_gene_variant RECA-EU 2 219133471 219133471 single base substitution G A intron_variant RECA-EU 2 219133471 219133471 single base substitution G A upstream_gene_variant SKCA-BR 2 219125402 219125402 single base substitution A C downstream_gene_variant SKCA-BR 2 219125766 219125766 single base substitution G A downstream_gene_variant SKCA-BR 2 219126133 219126133 single base substitution G A downstream_gene_variant SKCA-BR 2 219130712 219130712 single base substitution C T downstream_gene_variant SKCA-BR 2 219130712 219130712 single base substitution C T exon_variant SKCA-BR 2 219130712 219130712 single base substitution C T intron_variant SKCA-BR 2 219130712 219130712 single base substitution C T upstream_gene_variant SKCA-BR 2 219133417 219133418 deletion of <=200bp CT - intron_variant SKCA-BR 2 219133417 219133418 deletion of <=200bp CT - upstream_gene_variant SKCA-BR 2 219134765 219134765 insertion of <=200bp - TG exon_variant SKCA-BR 2 219134765 219134765 insertion of <=200bp - TG frameshift_variant P15P? SKCA-BR 2 219134765 219134765 insertion of <=200bp - TG upstream_gene_variant SKCA-BR 2 219135052 219135052 single base substitution C T upstream_gene_variant SKCA-BR 2 219135691 219135691 single base substitution G A upstream_gene_variant SKCA-BR 2 219137698 219137698 single base substitution G T upstream_gene_variant SKCM-US 2 219127952 219127952 single base substitution G A downstream_gene_variant SKCM-US 2 219130319 219130319 single base substitution G A downstream_gene_variant SKCM-US 2 219130319 219130319 single base substitution G A exon_variant SKCM-US 2 219130319 219130319 single base substitution G A synonymous_variant S303S 909C>T SKCM-US 2 219130319 219130319 single base substitution G A synonymous_variant S322S 966C>T SKCM-US 2 219130319 219130319 single base substitution G A synonymous_variant S323S 969C>T SKCM-US 2 219130319 219130319 single base substitution G A synonymous_variant S76S 228C>T SKCM-US 2 219130370 219130370 single base substitution G A downstream_gene_variant SKCM-US 2 219130370 219130370 single base substitution G A exon_variant SKCM-US 2 219130370 219130370 single base substitution G A synonymous_variant S286S 858C>T SKCM-US 2 219130370 219130370 single base substitution G A synonymous_variant S305S 915C>T SKCM-US 2 219130370 219130370 single base substitution G A synonymous_variant S306S 918C>T SKCM-US 2 219130370 219130370 single base substitution G A synonymous_variant S59S 177C>T SKCM-US 2 219131205 219131205 single base substitution G A downstream_gene_variant SKCM-US 2 219131205 219131205 single base substitution G A exon_variant SKCM-US 2 219131205 219131205 single base substitution G A missense_variant P168S 502C>T SKCM-US 2 219131205 219131205 single base substitution G A missense_variant P195S 583C>T SKCM-US 2 219131205 219131205 single base substitution G A missense_variant P214S 640C>T SKCM-US 2 219131205 219131205 single base substitution G A missense_variant P215S 643C>T SKCM-US 2 219131205 219131205 single base substitution G A upstream_gene_variant SKCM-US 2 219131697 219131697 single base substitution G A downstream_gene_variant SKCM-US 2 219131697 219131697 single base substitution G A exon_variant SKCM-US 2 219131697 219131697 single base substitution G A missense_variant S117F 350C>T SKCM-US 2 219131697 219131697 single base substitution G A missense_variant S136F 407C>T SKCM-US 2 219131697 219131697 single base substitution G A missense_variant S137F 410C>T SKCM-US 2 219131697 219131697 single base substitution G A missense_variant S90F 269C>T SKCM-US 2 219131697 219131697 single base substitution G A upstream_gene_variant SKCM-US 2 219134173 219134173 single base substitution G A exon_variant SKCM-US 2 219134173 219134173 single base substitution G A missense_variant P23L 68C>T SKCM-US 2 219134173 219134173 single base substitution G A missense_variant P50L 149C>T SKCM-US 2 219134173 219134173 single base substitution G A missense_variant P69L 206C>T SKCM-US 2 219134173 219134173 single base substitution G A missense_variant P70L 209C>T SKCM-US 2 219134173 219134173 single base substitution G A upstream_gene_variant SKCM-US 2 219134700 219134700 single base substitution G A exon_variant SKCM-US 2 219134700 219134700 single base substitution G A missense_variant P37L 110C>T SKCM-US 2 219134700 219134700 single base substitution G A upstream_gene_variant STAD-US 2 219127871 219127871 single base substitution C T downstream_gene_variant STAD-US 2 219127900 219127900 single base substitution T C downstream_gene_variant STAD-US 2 219128380 219128380 single base substitution C T downstream_gene_variant STAD-US 2 219131233 219131233 single base substitution C T downstream_gene_variant STAD-US 2 219131233 219131233 single base substitution C T exon_variant STAD-US 2 219131233 219131233 single base substitution C T synonymous_variant P158P 474G>A STAD-US 2 219131233 219131233 single base substitution C T synonymous_variant P185P 555G>A STAD-US 2 219131233 219131233 single base substitution C T synonymous_variant P204P 612G>A STAD-US 2 219131233 219131233 single base substitution C T synonymous_variant P205P 615G>A STAD-US 2 219131233 219131233 single base substitution C T upstream_gene_variant STAD-US 2 219134766 219134766 deletion of <=200bp G - exon_variant STAD-US 2 219134766 219134766 deletion of <=200bp G - frameshift_variant P15 STAD-US 2 219134766 219134766 deletion of <=200bp G - upstream_gene_variant THCA-SA 2 219134281 219134281 deletion of <=200bp G - frameshift_variant S14 THCA-SA 2 219134281 219134281 deletion of <=200bp G - intron_variant THCA-SA 2 219134281 219134281 deletion of <=200bp G - upstream_gene_variant UCEC-US 2 219128048 219128048 single base substitution C T downstream_gene_variant UCEC-US 2 219128278 219128278 single base substitution C T downstream_gene_variant UCEC-US 2 219130399 219130399 single base substitution C A downstream_gene_variant UCEC-US 2 219130399 219130399 single base substitution C A exon_variant UCEC-US 2 219130399 219130399 single base substitution C A missense_variant G277C 829G>T UCEC-US 2 219130399 219130399 single base substitution C A missense_variant G296C 886G>T UCEC-US 2 219130399 219130399 single base substitution C A missense_variant G297C 889G>T UCEC-US 2 219130399 219130399 single base substitution C A missense_variant G50C 148G>T UCEC-US 2 219131258 219131258 single base substitution C T downstream_gene_variant UCEC-US 2 219131258 219131258 single base substitution C T exon_variant UCEC-US 2 219131258 219131258 single base substitution C T missense_variant G150D 449G>A UCEC-US 2 219131258 219131258 single base substitution C T missense_variant G177D 530G>A UCEC-US 2 219131258 219131258 single base substitution C T missense_variant G196D 587G>A UCEC-US 2 219131258 219131258 single base substitution C T missense_variant G197D 590G>A UCEC-US 2 219131258 219131258 single base substitution C T upstream_gene_variant UCEC-US 2 219134243 219134243 single base substitution C T 5_prime_UTR_variant UCEC-US 2 219134243 219134243 single base substitution C T exon_variant UCEC-US 2 219134243 219134243 single base substitution C T missense_variant E27K 79G>A UCEC-US 2 219134243 219134243 single base substitution C T missense_variant E46K 136G>A UCEC-US 2 219134243 219134243 single base substitution C T missense_variant E47K 139G>A UCEC-US 2 219134243 219134243 single base substitution C T upstream_gene_variant UCEC-US 2 219134288 219134288 single base substitution C T intron_variant UCEC-US 2 219134288 219134288 single base substitution C T missense_variant A12T 34G>A UCEC-US 2 219134288 219134288 single base substitution C T upstream_gene_variant UCEC-US 2 219136109 219136109 single base substitution C A upstream_gene_variant UCEC-US 2 219136137 219136137 single base substitution C A upstream_gene_variant

Mutation - COSMIC Sample Name Mutation ID Mutation CDS Mutation AA Mutation Description Mutation Genome Position Mutation Strand TCGA-FJ-A3Z7-01 COSM3798639 c.1183G>C p.D395H Substitution - Missense 2:218265066-218265066 - CSCC-31-T COSM4560172 c.832G>A p.G278S Substitution - Missense 2:218265878-218265878 - 587256 COSM1180897 c.332delG p.G111fs*27 Deletion - Frameshift 2:218267556-218267556 - 043 COSM145032 c.845G>C p.C282S Substitution - Missense 2:218265865-218265865 - UACC-62 COSM145033 c.842A>C p.D281A Substitution - Missense 2:218265868-218265868 - Pat_60_B COSM1405445 c.44delC p.P15fs*5 Deletion - Frameshift 2:218270043-218270043 - HCT15 COSM3043318 c.407C>A p.S136Y Substitution - Missense 2:218266974-218266974 - ESO-1670 COSM1243841 c.366C>G p.S122R Substitution - Missense 2:218267522-218267522 - TCGA-JW-A5VL-01 COSM4846964 c.94G>C p.E32Q Substitution - Missense 2:218269993-218269993 - HCC37T COSM1614351 c.391G>A p.A131T Substitution - Missense 2:218267497-218267497 - 2521259 COSM5889643 c.512C>T p.S171F Substitution - Missense 2:218266869-218266869 - BK0018 COSM4186067 c.1168G>A p.G390S Substitution - Missense 2:218265081-218265081 - TCGA-BF-A1PX-01 COSM4905353 c.110C>T p.P37L Substitution - Missense 2:218269977-218269977 - PTC-7C COSM4133444 c.1165A>C p.T389P Substitution - Missense 2:218265084-218265084 - TCGA-FS-A1ZR-06 COSM3577657 c.640C>T p.P214S Substitution - Missense 2:218266482-218266482 - HCC4T COSM3709410 c.1203T>C p.A401A Substitution - coding silent 2:218265046-218265046 - BD124T COSM5491574 c.990C>A p.P330P Substitution - coding silent 2:218265455-218265455 - T9 COSM5619462 c.84C>T p.I28I Substitution - coding silent 2:218270003-218270003 - HCC4T COSM3746535 c.530T>C p.L177P Substitution - Missense 2:218266851-218266851 - TCGA-D1-A17Q-01 COSM1016314 c.136G>A p.E46K Substitution - Missense 2:218269520-218269520 - TCGA-AP-A051-01 COSM1016312 c.886G>T p.G296C Substitution - Missense 2:218265676-218265676 - T3088 COSM1405445 c.44delC p.P15fs*5 Deletion - Frameshift 2:218270043-218270043 - HCC37 COSM1614351 c.391G>A p.A131T Substitution - Missense 2:218267497-218267497 - EWS502 COSM4583173 c.1240C>T p.L414L Substitution - coding silent 2:218264598-218264598 - TCGA-12-0615 COSM2153535 c.564C>T p.V188V Substitution - coding silent 2:218266558-218266558 - STC252 COSM5058656 c.369T>C p.D123D Substitution - coding silent 2:218267519-218267519 - KM12 COSM1405445 c.44delC p.P15fs*5 Deletion - Frameshift 2:218270043-218270043 - TCGA-EE-A2MP-06 COSM3577658 c.407C>T p.S136F Substitution - Missense 2:218266974-218266974 - TCGA-EE-A2MJ-06 COSM3577659 c.206C>T p.P69L Substitution - Missense 2:218269450-218269450 - 043-0094-01TD COSM145033 c.842A>C p.D281A Substitution - Missense 2:218265868-218265868 - ZZUFHECRKL-G068T COSM4415485 c.748A>G p.I250V Substitution - Missense 2:218266079-218266079 - 61 COSM1482766 c.44_45insC p.L16fs*9 Insertion - Frameshift 2:218270042-218270043 - TCGA-CG-5723-01 COSM4091412 c.612G>A p.P204P Substitution - coding silent 2:218266510-218266510 - TCGA-BP-5185-01 COSM476908 c.91G>T p.V31L Substitution - Missense 2:218269996-218269996 - TCGA-B5-A11E-01 COSM1016313 c.587G>A p.G196D Substitution - Missense 2:218266535-218266535 - PTC-28C COSM4133445 c.517G>T p.E173* Substitution - Nonsense 2:218266864-218266864 - TCGA-G4-6628-01 COSM1405444 c.664C>T p.R222* Substitution - Nonsense 2:218266458-218266458 - TCGA-G4-6302-01 COSM3695265 c.695T>C p.V232A Substitution - Missense 2:218266132-218266132 - T2999 COSM4657855 c.1152C>T p.L384L Substitution - coding silent 2:218265097-218265097 - TCGA-PD-A5DF-01 COSM4909799 c.110C>G p.P37R Substitution - Missense 2:218269977-218269977 - ASHPC_0034_Pa_P COSM5420138 c.1089G>T p.Q363H Substitution - Missense 2:218265160-218265160 - TCGA-G4-6304-01 COSM3695264 c.1169G>A p.G390D Substitution - Missense 2:218265080-218265080 - LIM2551 COSM1482766 c.44_45insC p.L16fs*9 Insertion - Frameshift 2:218270042-218270043 - RK091_C01 COSM1631841 c.1079G>T p.G360V Substitution - Missense 2:218265170-218265170 - SC_9020 COSM5565125 c.719G>A p.R240K Substitution - Missense 2:218266108-218266108 - OV207 COSM253130 c.43_44insC p.L16fs*9 Insertion - Frameshift 2:218270043-218270044 - ZZUFHECRKL-G051T COSM5431265 c.122-6A>G p.? Unknown 2:218269540-218269540 - T3658 COSM4657856 c.503A>G p.E168G Substitution - Missense 2:218266878-218266878 - YUSCA COSM5396199 c.1304A>G p.*435* Substitution - coding silent 2:218264534-218264534 - TCGA-23-1117-01 COSM79121 c.760A>T p.K254* Substitution - Nonsense 2:218266067-218266067 - PTC-54C COSM4133446 c.488T>G p.V163G Substitution - Missense 2:218266893-218266893 - HCT8 COSM3043318 c.407C>A p.S136Y Substitution - Missense 2:218266974-218266974 - RMS80_ COSM4988514 c.635A>C p.Q212P Substitution - Missense 2:218266487-218266487 - YURAY COSM5396200 c.914C>T p.S305F Substitution - Missense 2:218265648-218265648 - AOCS-108-1-7 COSM4128138 c.478G>T p.V160L Substitution - Missense 2:218266903-218266903 - DLD1 COSM3043318 c.407C>A p.S136Y Substitution - Missense 2:218266974-218266974 - TCGA-42-2587-01 COSM1326426 c.85G>T p.E29* Substitution - Nonsense 2:218270002-218270002 - TP_2060 COSM5562963 c.240C>T p.P80P Substitution - coding silent 2:218269416-218269416 - TCGA-A3-3346-01 COSM1494832 c.483G>A p.W161* Substitution - Nonsense 2:218266898-218266898 - TCGA-EE-A3JA-06 COSM3577656 c.915C>T p.S305S Substitution - coding silent 2:218265647-218265647 - 587376 COSM1181154 c.58A>C p.S20R Substitution - Missense 2:218270029-218270029 - UACC-62 COSM1669746 c.850G>C p.A284P Substitution - Missense 2:218265860-218265860 - UACC-62 COSM145032 c.845G>C p.C282S Substitution - Missense 2:218265865-218265865 - C086 COSM5525945 c.63C>T p.F21F Substitution - coding silent 2:218270024-218270024 - cSCCP8 COSM140443 c.905C>T p.T302I Substitution - Missense 2:218265657-218265657 - TCGA-IR-A3LL-01 COSM4849741 c.124G>A p.D42N Substitution - Missense 2:218269532-218269532 - TCGA-12-0615-01 COSM2153535 c.564C>T p.V188V Substitution - coding silent 2:218266558-218266558 - TCGA-AB-2854-03 COSM1318111 c.360G>A p.R120R Substitution - coding silent 2:218267528-218267528 - Pat_05_A COSM1405445 c.44delC p.P15fs*5 Deletion - Frameshift 2:218270043-218270043 - TCGA-FS-A1ZZ-06 COSM3577655 c.966C>T p.S322S Substitution - coding silent 2:218265596-218265596 - HCC4 COSM3709410 c.1203T>C p.A401A Substitution - coding silent 2:218265046-218265046 - SNUH_G73_S1 COSM4415485 c.748A>G p.I250V Substitution - Missense 2:218266079-218266079 - A673 COSM3043323 c.48G>A p.L16L Substitution - coding silent 2:218270039-218270039 - CHEWS008 COSM4091412 c.612G>A p.P204P Substitution - coding silent 2:218266510-218266510 - TCGA-G4-6309-01 COSM1405445 c.44delC p.P15fs*5 Deletion - Frameshift 2:218270043-218270043 - 043-0094-01TD COSM145032 c.845G>C p.C282S Substitution - Missense 2:218265865-218265865 - 043 COSM145033 c.842A>C p.D281A Substitution - Missense 2:218265868-218265868 -

Mutation - CGAP UNIGENE CYTOBAND OMIM SNP Hs.83346;Hs.83347 2q35 603488 1526525|dbSNP|BC039866|A/G|non-coding||1710|Validated

Mutation - IntOGen Mutated from(ref) Mutated to(alt) Consequence Type AA Mutation CDS Mutation Chr Pos Cancer A G SpliceDonorSNV . c.121+2T>C 2 219134687 RCCC C A Missense p.G152V c.455G>T 2 219131649 CM C G IntronicSNV . c.680-97G>C 2 219130967 HC C G Missense p.C282S c.845G>C 2 219130588 CLL C T 5-UTRSNV . c.1-117G>A 2 219134926 CM C T IntronicSNV . c.122-31G>A 2 219134288 UCEC C T Missense p.G156S c.466G>A 2 219131638 HNSC G A 5-UTRSNV . c.1-124C>T 2 219134933 CM G A 5-UTRSNV . c.1-155C>T 2 219134964 CM G A 5-UTRSNV . c.1-96C>T 2 219134905 CM G A IntronicSNV . c.879+54C>T 2 219130500 CM G A Missense p.P184S c.550C>T 2 219131295 LUAD G A Missense p.P214S c.640C>T 2 219131205 CM G A Missense p.P37L c.110C>T 2 219134700 CM G A Missense p.P69L c.206C>T 2 219134173 CM G A Missense p.S136F c.407C>T 2 219131697 CM G A Synonymous p.F117F c.351C>T 2 219132260 LUAD G A Synonymous p.S305S c.915C>T 2 219130370 CM G A Synonymous p.S322S c.966C>T 2 219130319 CM G A Synonymous p.T291T c.873C>T 2 219130560 CM G A Synonymous p.V188V c.564C>T 2 219131281 GBM G C Missense p.S122R c.366C>G 2 219132245 ESCA - G Frameshift p.L16Tfs*9 c.44dupC 2 219134766 BRCA - G Frameshift p.L16Tfs*9 c.44dupC 2 219134766 LUAD G - Frameshift p.P15Hfs*5 c.44delC 2 219134766 LGG G - Frameshift p.P15Hfs*5 c.44delC 2 219134766 STAD G T IntronicSNV . c.535-94C>A 2 219131404 CM T A Nonsense p.K254* c.760A>T 2 219130790 OV T G Missense p.D281A c.842A>C 2 219130591 CLL