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 BRCA 3 23929154 23929154 + Silent SNP C C T TCGA-AC-A23H-01A-11D-A159-09 TCGA-AC-A23H-11A-12D-A17G-09 g.chr3:23929154C>T c.300C>T c.(298-300)atC>atT p.I100I BRCA 3 23932006 23932006 + Missense_Mutation SNP C C G TCGA-A2-A0T0-01A-22D-A099-09 TCGA-A2-A0T0-10A-01D-A099-09 g.chr3:23932006C>G c.491C>G c.(490-492)cCc>cGc p.P164R CESC 3 23852950 23852950 + Splice_Site SNP G G A TCGA-EA-A3HT-01A-61D-A21Q-09 TCGA-EA-A3HT-10A-01D-A21Q-09 g.chr3:23852950G>A c.e3-1 CESC 3 23930675 23930675 + Missense_Mutation SNP G G C TCGA-C5-A7CO-01A-11D-A351-09 TCGA-C5-A7CO-10A-01D-A351-09 g.chr3:23930675G>C c.409G>C c.(409-411)Gat>Cat p.D137H COAD 3 23848829 23848829 + Missense_Mutation SNP G G T TCGA-AA-3710-01A-01W-0995-10 TCGA-AA-3710-10A-01W-0995-10 g.chr3:23848829G>T c.69G>T c.(67-69)gaG>gaT p.E23D COAD 3 23848848 23848850 + In_Frame_Del DEL AAG AAG - TCGA-CM-6674-01A-11D-1835-10 TCGA-CM-6674-10A-01D-1835-10 g.chr3:23848848_23848850delAAG c.88_90delAAG c.(88-90)aagdel p.K32del COAD 3 23852962 23852962 + Missense_Mutation SNP A A G TCGA-AA-3715-01A-01W-0900-09 TCGA-AA-3715-10A-01W-0900-09 g.chr3:23852962A>G c.164A>G c.(163-165)gAg>gGg p.E55G COAD 3 23930692 23930692 + Silent SNP A A G TCGA-AA-A00R-01A-01W-A005-10 TCGA-AA-A00R-10A-01W-A005-10 g.chr3:23930692A>G c.426A>G c.(424-426)gcA>gcG p.A142A COAD 3 23932084 23932084 + Missense_Mutation SNP G G T TCGA-AA-A010-01A-01W-A00E-09 TCGA-AA-A010-10A-01W-A00E-09 g.chr3:23932084G>T c.569G>T c.(568-570)aGa>aTa p.R190I COADREAD 3 23848829 23848829 + Missense_Mutation SNP G G T TCGA-AA-3710-01A-01W-0995-10 TCGA-AA-3710-10A-01W-0995-10 g.chr3:23848829G>T c.69G>T c.(67-69)gaG>gaT p.E23D COADREAD 3 23848848 23848850 + In_Frame_Del DEL AAG AAG - TCGA-CM-6674-01A-11D-1835-10 TCGA-CM-6674-10A-01D-1835-10 g.chr3:23848848_23848850delAAG c.88_90delAAG c.(88-90)aagdel p.K32del COADREAD 3 23852962 23852962 + Missense_Mutation SNP A A G TCGA-AA-3715-01A-01W-0900-09 TCGA-AA-3715-10A-01W-0900-09 g.chr3:23852962A>G c.164A>G c.(163-165)gAg>gGg p.E55G COADREAD 3 23930692 23930692 + Silent SNP A A G TCGA-AA-A00R-01A-01W-A005-10 TCGA-AA-A00R-10A-01W-A005-10 g.chr3:23930692A>G c.426A>G c.(424-426)gcA>gcG p.A142A COADREAD 3 23932084 23932084 + Missense_Mutation SNP G G T TCGA-AA-A010-01A-01W-A00E-09 TCGA-AA-A010-10A-01W-A00E-09 g.chr3:23932084G>T c.569G>T c.(568-570)aGa>aTa p.R190I ESCA 3 23848848 23848850 + In_Frame_Del DEL AAG AAG - TCGA-L5-A43J-01A-12D-A247-09 TCGA-L5-A43J-11A-11D-A247-09 g.chr3:23848848_23848850delAAG c.88_90delAAG c.(88-90)aagdel p.K32del ESCA 3 23848850 23848850 + Missense_Mutation SNP G G C TCGA-L5-A43J-01A-12D-A247-09 TCGA-L5-A43J-11A-11D-A247-09 g.chr3:23848850G>C c.90G>C c.(88-90)aaG>aaC p.K30N GBMLGG 3 23848871 23848871 + Silent SNP C C T TCGA-DU-6392-01A-11D-1705-08 TCGA-DU-6392-10A-01D-1705-08 g.chr3:23848871C>T c.111C>T c.(109-111)agC>agT p.S37S LGG 3 23848871 23848871 + Silent SNP C C T TCGA-DU-6392-01A-11D-1705-08 TCGA-DU-6392-10A-01D-1705-08 g.chr3:23848871C>T c.111C>T c.(109-111)agC>agT p.S37S LIHC 3 23929187 23929187 + Frame_Shift_Del DEL A A - TCGA-DD-A1EG-01A-11D-A20W-10 TCGA-DD-A1EG-10A-01D-A20W-10 g.chr3:23929187delA c.333delA c.(331-333)ccafs p.P111fs LIHC 3 23932096 23932096 + Silent SNP A A G TCGA-DD-AADO-01A-11D-A40R-10 TCGA-DD-AADO-10A-01D-A40U-10 g.chr3:23932096A>G c.581A>G c.(580-582)tAa>tGa p.*194* PAAD 3 23932089 23932089 + Missense_Mutation SNP G G A TCGA-IB-7651-01A-11D-2154-08 TCGA-IB-7651-10A-01D-2154-08 g.chr3:23932089G>A c.574G>A c.(574-576)Gct>Act p.A192T SKCM 3 23848885 23848885 + Missense_Mutation SNP C C T TCGA-EE-A2GO-06A-11D-A196-08 TCGA-EE-A2GO-10A-01D-A198-08 g.chr3:23848885C>T c.125C>T c.(124-126)tCc>tTc p.S42F

Mutation - ICGC Project Code Chromosome Chromosome Start Chromosome End Mutation Type Mutated from Allele Mutated to Allele Consequence Type AA Mutation CDS Mutation BRCA-EU 3 23842977 23842977 single base substitution C T upstream_gene_variant BRCA-EU 3 23844111 23844134 deletion of <=200bp CTCAAGGAGTCTGCCTGCCTTGGC - upstream_gene_variant BRCA-EU 3 23845386 23845386 single base substitution G C upstream_gene_variant BRCA-EU 3 23846179 23846179 single base substitution G A upstream_gene_variant BRCA-EU 3 23846375 23846378 deletion of <=200bp GTAA - upstream_gene_variant BRCA-EU 3 23847591 23847591 single base substitution C T intron_variant BRCA-EU 3 23847591 23847591 single base substitution C T upstream_gene_variant BRCA-EU 3 23847730 23847730 single base substitution G A intron_variant BRCA-EU 3 23847730 23847730 single base substitution G A upstream_gene_variant BRCA-EU 3 23848327 23848327 single base substitution C T intron_variant BRCA-EU 3 23848327 23848327 single base substitution C T upstream_gene_variant BRCA-EU 3 23848718 23848718 single base substitution C T 5_prime_UTR_variant BRCA-EU 3 23848718 23848718 single base substitution C T intron_variant BRCA-EU 3 23848718 23848718 single base substitution C T upstream_gene_variant BRCA-EU 3 23849008 23849008 single base substitution C A exon_variant BRCA-EU 3 23849008 23849008 single base substitution C A intron_variant BRCA-EU 3 23849008 23849008 single base substitution C A upstream_gene_variant BRCA-EU 3 23849261 23849261 single base substitution A T exon_variant BRCA-EU 3 23849261 23849261 single base substitution A T intron_variant BRCA-EU 3 23849261 23849261 single base substitution A T upstream_gene_variant BRCA-EU 3 23851151 23851151 deletion of <=200bp T - downstream_gene_variant BRCA-EU 3 23851151 23851151 deletion of <=200bp T - intron_variant BRCA-EU 3 23851151 23851151 deletion of <=200bp T - upstream_gene_variant BRCA-EU 3 23851255 23851255 single base substitution G C downstream_gene_variant BRCA-EU 3 23851255 23851255 single base substitution G C intron_variant BRCA-EU 3 23851255 23851255 single base substitution G C upstream_gene_variant BRCA-EU 3 23852401 23852401 single base substitution G A downstream_gene_variant BRCA-EU 3 23852401 23852401 single base substitution G A exon_variant BRCA-EU 3 23852401 23852401 single base substitution G A intron_variant BRCA-EU 3 23852401 23852401 single base substitution G A upstream_gene_variant BRCA-EU 3 23852581 23852581 single base substitution G A downstream_gene_variant BRCA-EU 3 23852581 23852581 single base substitution G A intron_variant BRCA-EU 3 23852581 23852581 single base substitution G A upstream_gene_variant BRCA-EU 3 23852902 23852902 single base substitution C A downstream_gene_variant BRCA-EU 3 23852902 23852902 single base substitution C A intron_variant BRCA-EU 3 23852902 23852902 single base substitution C A upstream_gene_variant BRCA-EU 3 23853284 23853284 single base substitution G A downstream_gene_variant BRCA-EU 3 23853284 23853284 single base substitution G A intron_variant BRCA-EU 3 23854650 23854650 single base substitution G A downstream_gene_variant BRCA-EU 3 23854650 23854650 single base substitution G A intron_variant BRCA-EU 3 23857062 23857062 single base substitution C G intron_variant BRCA-EU 3 23857982 23857982 single base substitution G A intron_variant BRCA-EU 3 23858745 23858745 single base substitution C G intron_variant BRCA-EU 3 23858784 23858784 single base substitution G A intron_variant BRCA-EU 3 23859285 23859285 single base substitution G C intron_variant BRCA-EU 3 23861610 23861610 single base substitution C T intron_variant BRCA-EU 3 23863418 23863418 single base substitution G A intron_variant BRCA-EU 3 23864857 23864857 single base substitution G C intron_variant BRCA-EU 3 23866889 23866889 single base substitution C T intron_variant BRCA-EU 3 23867156 23867156 single base substitution G A intron_variant BRCA-EU 3 23868683 23868683 single base substitution A C intron_variant BRCA-EU 3 23871401 23871401 single base substitution C T intron_variant BRCA-EU 3 23872016 23872016 single base substitution C T intron_variant BRCA-EU 3 23872882 23872882 single base substitution C T intron_variant BRCA-EU 3 23873449 23873449 single base substitution C T intron_variant BRCA-EU 3 23875101 23875101 single base substitution G C intron_variant BRCA-EU 3 23875282 23875282 single base substitution G A intron_variant BRCA-EU 3 23875699 23875699 single base substitution G C intron_variant BRCA-EU 3 23876507 23876507 insertion of <=200bp - A intron_variant BRCA-EU 3 23877529 23877529 insertion of <=200bp - A intron_variant BRCA-EU 3 23877794 23877794 deletion of <=200bp A - intron_variant BRCA-EU 3 23880428 23880428 deletion of <=200bp T - intron_variant BRCA-EU 3 23881172 23881172 deletion of <=200bp T - intron_variant BRCA-EU 3 23884669 23884669 single base substitution G A intron_variant BRCA-EU 3 23886098 23886098 single base substitution G A intron_variant BRCA-EU 3 23886313 23886313 single base substitution A G intron_variant BRCA-EU 3 23887265 23887265 deletion of <=200bp A - intron_variant BRCA-EU 3 23887269 23887269 single base substitution G T intron_variant BRCA-EU 3 23889146 23889146 single base substitution C G intron_variant BRCA-EU 3 23889254 23889254 single base substitution G T intron_variant BRCA-EU 3 23890342 23890342 single base substitution C G intron_variant BRCA-EU 3 23890842 23890842 single base substitution G C intron_variant BRCA-EU 3 23892922 23892922 deletion of <=200bp T - intron_variant BRCA-EU 3 23892922 23892922 insertion of <=200bp - T intron_variant BRCA-EU 3 23894164 23894164 single base substitution C T intron_variant BRCA-EU 3 23897195 23897195 single base substitution C T intron_variant BRCA-EU 3 23897842 23897842 single base substitution T C intron_variant BRCA-EU 3 23898650 23898650 single base substitution C G intron_variant BRCA-EU 3 23898668 23898668 insertion of <=200bp - G intron_variant BRCA-EU 3 23898988 23898988 single base substitution A G intron_variant BRCA-EU 3 23900102 23900102 single base substitution C A intron_variant BRCA-EU 3 23900698 23900698 single base substitution C G intron_variant BRCA-EU 3 23900711 23900711 single base substitution T C intron_variant BRCA-EU 3 23903548 23903548 deletion of <=200bp C - intron_variant BRCA-EU 3 23903548 23903548 deletion of <=200bp C - upstream_gene_variant BRCA-EU 3 23904894 23904894 single base substitution C T intron_variant BRCA-EU 3 23904894 23904894 single base substitution C T upstream_gene_variant BRCA-EU 3 23905062 23905062 single base substitution C T intron_variant BRCA-EU 3 23905062 23905062 single base substitution C T upstream_gene_variant BRCA-EU 3 23905879 23905879 single base substitution C T intron_variant BRCA-EU 3 23905879 23905879 single base substitution C T upstream_gene_variant BRCA-EU 3 23907303 23907303 single base substitution G C intron_variant BRCA-EU 3 23907303 23907303 single base substitution G C upstream_gene_variant BRCA-EU 3 23908345 23908345 single base substitution G C intron_variant BRCA-EU 3 23908696 23908696 single base substitution G C intron_variant BRCA-EU 3 23909275 23909275 single base substitution G A intron_variant BRCA-EU 3 23909504 23909504 single base substitution C G intron_variant BRCA-EU 3 23909799 23909799 insertion of <=200bp - TA intron_variant BRCA-EU 3 23909859 23909859 single base substitution G T intron_variant BRCA-EU 3 23911330 23911330 single base substitution C T intron_variant BRCA-EU 3 23913111 23913111 single base substitution G A intron_variant BRCA-EU 3 23914211 23914211 single base substitution C G intron_variant BRCA-EU 3 23914272 23914272 single base substitution G T intron_variant BRCA-EU 3 23914586 23914586 single base substitution G A intron_variant BRCA-EU 3 23914742 23914742 single base substitution G A intron_variant BRCA-EU 3 23917274 23917274 deletion of <=200bp T - intron_variant BRCA-EU 3 23917674 23917674 single base substitution A G intron_variant BRCA-EU 3 23918314 23918314 single base substitution C T intron_variant BRCA-EU 3 23919112 23919112 single base substitution G C intron_variant BRCA-EU 3 23919193 23919193 single base substitution G A intron_variant BRCA-EU 3 23919684 23919684 single base substitution C T intron_variant BRCA-EU 3 23920973 23920973 single base substitution G C intron_variant BRCA-EU 3 23923243 23923243 single base substitution C T intron_variant BRCA-EU 3 23924532 23924532 single base substitution G A intron_variant BRCA-EU 3 23925809 23925809 single base substitution C A intron_variant BRCA-EU 3 23926086 23926086 insertion of <=200bp - T intron_variant BRCA-EU 3 23929060 23929060 single base substitution C T missense_variant A19V 56C>T BRCA-EU 3 23929060 23929060 single base substitution C T missense_variant A36V 107C>T BRCA-EU 3 23929060 23929060 single base substitution C T missense_variant A52V 155C>T BRCA-EU 3 23929060 23929060 single base substitution C T missense_variant A69V 206C>T BRCA-EU 3 23929060 23929060 single base substitution C T splice_region_variant BRCA-EU 3 23930469 23930469 single base substitution C G downstream_gene_variant BRCA-EU 3 23930469 23930469 single base substitution C G intron_variant BRCA-EU 3 23930593 23930593 deletion of <=200bp T - downstream_gene_variant BRCA-EU 3 23930593 23930593 deletion of <=200bp T - intron_variant BRCA-EU 3 23933759 23933759 single base substitution G C downstream_gene_variant BRCA-EU 3 23935019 23935019 single base substitution C T downstream_gene_variant BRCA-EU 3 23935251 23935251 single base substitution C G downstream_gene_variant BRCA-EU 3 23936550 23936550 single base substitution T A downstream_gene_variant BRCA-FR 3 23848327 23848327 single base substitution C T intron_variant BRCA-FR 3 23848327 23848327 single base substitution C T upstream_gene_variant BRCA-FR 3 23852581 23852581 single base substitution G A downstream_gene_variant BRCA-FR 3 23852581 23852581 single base substitution G A intron_variant BRCA-FR 3 23852581 23852581 single base substitution G A upstream_gene_variant BRCA-FR 3 23867156 23867156 single base substitution G A intron_variant BRCA-FR 3 23875699 23875699 single base substitution G C intron_variant BRCA-FR 3 23878596 23878596 single base substitution A G intron_variant BRCA-FR 3 23888867 23888867 single base substitution A G intron_variant BRCA-FR 3 23900102 23900102 single base substitution C A intron_variant BRCA-FR 3 23905369 23905369 single base substitution C T intron_variant BRCA-FR 3 23905369 23905369 single base substitution C T upstream_gene_variant BRCA-FR 3 23908696 23908696 single base substitution G C intron_variant BRCA-FR 3 23919161 23919161 single base substitution T G intron_variant BRCA-FR 3 23919684 23919684 single base substitution C T intron_variant BRCA-FR 3 23933759 23933759 single base substitution G C downstream_gene_variant BRCA-UK 3 23858745 23858745 single base substitution C G intron_variant BRCA-UK 3 23870768 23870768 single base substitution C T intron_variant BRCA-UK 3 23879668 23879668 single base substitution C T intron_variant BRCA-UK 3 23881745 23881745 single base substitution C T intron_variant BRCA-UK 3 23888622 23888622 single base substitution C T intron_variant BRCA-UK 3 23912146 23912146 single base substitution C T intron_variant BRCA-UK 3 23925175 23925175 single base substitution G A intron_variant BRCA-US 3 23929154 23929154 single base substitution C T exon_variant BRCA-US 3 23929154 23929154 single base substitution C T synonymous_variant I100I 300C>T BRCA-US 3 23929154 23929154 single base substitution C T synonymous_variant I50I 150C>T BRCA-US 3 23929154 23929154 single base substitution C T synonymous_variant I67I 201C>T BRCA-US 3 23929154 23929154 single base substitution C T synonymous_variant I83I 249C>T BRCA-US 3 23932006 23932006 single base substitution C G downstream_gene_variant BRCA-US 3 23932006 23932006 single base substitution C G exon_variant BRCA-US 3 23932006 23932006 single base substitution C G missense_variant P122R 365C>G BRCA-US 3 23932006 23932006 single base substitution C G missense_variant P131R 392C>G BRCA-US 3 23932006 23932006 single base substitution C G missense_variant P147R 440C>G BRCA-US 3 23932006 23932006 single base substitution C G missense_variant P164R 491C>G BRCA-US 3 23934723 23934723 single base substitution C G downstream_gene_variant BTCA-JP 3 23930825 23930825 single base substitution G T downstream_gene_variant BTCA-JP 3 23930825 23930825 single base substitution G T intron_variant BTCA-JP 3 23930825 23930825 single base substitution G T missense_variant D154Y 460G>T CESC-US 3 23852950 23852950 single base substitution G A downstream_gene_variant CESC-US 3 23852950 23852950 single base substitution G A intron_variant CESC-US 3 23852950 23852950 single base substitution G A missense_variant R1K 2G>A CESC-US 3 23852950 23852950 single base substitution G A splice_acceptor_variant CESC-US 3 23930675 23930675 single base substitution G C downstream_gene_variant CESC-US 3 23930675 23930675 single base substitution G C exon_variant CESC-US 3 23930675 23930675 single base substitution G C missense_variant D104H 310G>C CESC-US 3 23930675 23930675 single base substitution G C missense_variant D120H 358G>C CESC-US 3 23930675 23930675 single base substitution G C missense_variant D137H 409G>C CESC-US 3 23930675 23930675 single base substitution G C missense_variant D95H 283G>C CLLE-ES 3 23844580 23844580 single base substitution C T upstream_gene_variant CLLE-ES 3 23870638 23870638 single base substitution A C intron_variant CLLE-ES 3 23883735 23883735 deletion of <=200bp T - intron_variant CLLE-ES 3 23885618 23885618 single base substitution G A intron_variant CLLE-ES 3 23886265 23886265 single base substitution T G intron_variant CLLE-ES 3 23886569 23886569 single base substitution A T intron_variant CLLE-ES 3 23914686 23914686 single base substitution G T intron_variant CLLE-ES 3 23929897 23929897 single base substitution T A downstream_gene_variant CLLE-ES 3 23929897 23929897 single base substitution T A intron_variant CLLE-ES 3 23929909 23929909 single base substitution A T downstream_gene_variant CLLE-ES 3 23929909 23929909 single base substitution A T intron_variant CLLE-ES 3 23929913 23929913 single base substitution T A downstream_gene_variant CLLE-ES 3 23929913 23929913 single base substitution T A intron_variant CLLE-ES 3 23935726 23935726 single base substitution A T downstream_gene_variant COAD-US 3 23848848 23848850 deletion of <=200bp AAG - exon_variant COAD-US 3 23848848 23848850 deletion of <=200bp AAG - inframe_deletion K30 COAD-US 3 23848848 23848850 deletion of <=200bp AAG - upstream_gene_variant COAD-US 3 23934772 23934772 single base substitution G A downstream_gene_variant COCA-CN 3 23852857 23852857 single base substitution G T downstream_gene_variant COCA-CN 3 23852857 23852857 single base substitution G T intron_variant COCA-CN 3 23852857 23852857 single base substitution G T upstream_gene_variant COCA-CN 3 23920986 23920986 single base substitution C T intron_variant COCA-CN 3 23931981 23931981 single base substitution C A downstream_gene_variant COCA-CN 3 23931981 23931981 single base substitution C A intron_variant COCA-CN 3 23932038 23932038 single base substitution A G downstream_gene_variant COCA-CN 3 23932038 23932038 single base substitution A G exon_variant COCA-CN 3 23932038 23932038 single base substitution A G missense_variant T133A 397A>G COCA-CN 3 23932038 23932038 single base substitution A G missense_variant T142A 424A>G COCA-CN 3 23932038 23932038 single base substitution A G missense_variant T158A 472A>G COCA-CN 3 23932038 23932038 single base substitution A G missense_variant T175A 523A>G COCA-CN 3 23932105 23932105 single base substitution T A 3_prime_UTR_variant COCA-CN 3 23932105 23932105 single base substitution T A downstream_gene_variant COCA-CN 3 23932105 23932105 single base substitution T A exon_variant EOPC-DE 3 23865249 23865249 single base substitution A C intron_variant ESAD-UK 3 23842565 23842565 single base substitution G A upstream_gene_variant ESAD-UK 3 23844031 23844031 single base substitution G A upstream_gene_variant ESAD-UK 3 23844938 23844938 single base substitution G A upstream_gene_variant ESAD-UK 3 23847038 23847038 single base substitution A G upstream_gene_variant ESAD-UK 3 23851156 23851156 single base substitution T A downstream_gene_variant ESAD-UK 3 23851156 23851156 single base substitution T A intron_variant ESAD-UK 3 23851156 23851156 single base substitution T A upstream_gene_variant ESAD-UK 3 23852367 23852367 single base substitution G C downstream_gene_variant ESAD-UK 3 23852367 23852367 single base substitution G C exon_variant ESAD-UK 3 23852367 23852367 single base substitution G C intron_variant ESAD-UK 3 23852367 23852367 single base substitution G C upstream_gene_variant ESAD-UK 3 23853402 23853402 single base substitution A G downstream_gene_variant ESAD-UK 3 23853402 23853402 single base substitution A G intron_variant ESAD-UK 3 23855019 23855019 insertion of <=200bp - TTAT downstream_gene_variant ESAD-UK 3 23855019 23855019 insertion of <=200bp - TTAT intron_variant ESAD-UK 3 23855068 23855068 single base substitution C T downstream_gene_variant ESAD-UK 3 23855068 23855068 single base substitution C T intron_variant ESAD-UK 3 23855986 23855986 insertion of <=200bp - TA intron_variant ESAD-UK 3 23858870 23858870 single base substitution G A intron_variant ESAD-UK 3 23864832 23864832 single base substitution G C intron_variant ESAD-UK 3 23865600 23865600 single base substitution G A intron_variant ESAD-UK 3 23866375 23866375 single base substitution T G intron_variant ESAD-UK 3 23869755 23869755 single base substitution G A intron_variant ESAD-UK 3 23871225 23871225 single base substitution G T intron_variant ESAD-UK 3 23877864 23877864 single base substitution C T intron_variant ESAD-UK 3 23880826 23880826 single base substitution G A intron_variant ESAD-UK 3 23882707 23882707 single base substitution C T intron_variant ESAD-UK 3 23882855 23882855 single base substitution T G intron_variant ESAD-UK 3 23887390 23887390 single base substitution A C intron_variant ESAD-UK 3 23887433 23887433 single base substitution G A intron_variant ESAD-UK 3 23888011 23888011 single base substitution A G intron_variant ESAD-UK 3 23888875 23888875 single base substitution G C intron_variant ESAD-UK 3 23891971 23891971 single base substitution A G intron_variant ESAD-UK 3 23894418 23894418 single base substitution T G intron_variant ESAD-UK 3 23895856 23895856 single base substitution G A intron_variant ESAD-UK 3 23904863 23904863 single base substitution G C intron_variant ESAD-UK 3 23904863 23904863 single base substitution G C upstream_gene_variant ESAD-UK 3 23905362 23905362 single base substitution C G intron_variant ESAD-UK 3 23905362 23905362 single base substitution C G upstream_gene_variant ESAD-UK 3 23907904 23907904 single base substitution G C exon_variant ESAD-UK 3 23907904 23907904 single base substitution G C intron_variant ESAD-UK 3 23909263 23909263 single base substitution G A intron_variant ESAD-UK 3 23913193 23913193 single base substitution G A intron_variant ESAD-UK 3 23915293 23915293 single base substitution G A intron_variant ESAD-UK 3 23917284 23917284 single base substitution G C intron_variant ESAD-UK 3 23923743 23923743 single base substitution C G intron_variant ESAD-UK 3 23927290 23927290 single base substitution G A intron_variant ESAD-UK 3 23927371 23927371 single base substitution C A intron_variant ESAD-UK 3 23927384 23927384 single base substitution A G intron_variant ESAD-UK 3 23931912 23931912 single base substitution G A downstream_gene_variant ESAD-UK 3 23931912 23931912 single base substitution G A intron_variant ESAD-UK 3 23932330 23932330 single base substitution T C 3_prime_UTR_variant ESAD-UK 3 23932330 23932330 single base substitution T C downstream_gene_variant ESAD-UK 3 23932330 23932330 single base substitution T C exon_variant ESAD-UK 3 23935603 23935603 deletion of <=200bp A - downstream_gene_variant ESCA-CN 3 23934490 23934490 single base substitution T C downstream_gene_variant LAML-KR 3 23883691 23883691 single base substitution T G intron_variant LAML-KR 3 23913537 23913537 single base substitution G A intron_variant LICA-FR 3 23843611 23843611 single base substitution C T upstream_gene_variant LICA-FR 3 23845057 23845057 deletion of <=200bp T - upstream_gene_variant LICA-FR 3 23848893 23848894 deletion of <=200bp CT - exon_variant LICA-FR 3 23848893 23848894 deletion of <=200bp CT - frameshift_variant L45 LICA-FR 3 23848893 23848894 deletion of <=200bp CT - upstream_gene_variant LICA-FR 3 23860431 23860431 single base substitution A G intron_variant LICA-FR 3 23888190 23888190 insertion of <=200bp - A intron_variant LICA-FR 3 23888980 23888980 insertion of <=200bp - T intron_variant LICA-FR 3 23898493 23898493 insertion of <=200bp - AA intron_variant LICA-FR 3 23909254 23909254 single base substitution A G intron_variant LICA-FR 3 23921743 23921743 single base substitution G T intron_variant LINC-JP 3 23844793 23844793 single base substitution T G upstream_gene_variant LINC-JP 3 23848924 23848924 deletion of <=200bp T - exon_variant LINC-JP 3 23848924 23848924 deletion of <=200bp T - intron_variant LINC-JP 3 23848924 23848924 deletion of <=200bp T - upstream_gene_variant LINC-JP 3 23863893 23863893 single base substitution A G intron_variant LINC-JP 3 23871930 23871930 single base substitution G T intron_variant LINC-JP 3 23871932 23871932 single base substitution T G intron_variant LINC-JP 3 23907681 23907681 single base substitution G A intron_variant LINC-JP 3 23907681 23907681 single base substitution G A upstream_gene_variant LINC-JP 3 23914369 23914369 single base substitution G A intron_variant LINC-JP 3 23925822 23925822 single base substitution C G intron_variant LINC-JP 3 23926347 23926347 single base substitution T C intron_variant LINC-JP 3 23926353 23926353 single base substitution T C intron_variant LINC-JP 3 23928211 23928211 single base substitution T C intron_variant LINC-JP 3 23929218 23929218 single base substitution T G exon_variant LINC-JP 3 23929218 23929218 single base substitution T G intron_variant LINC-JP 3 23930812 23930812 single base substitution A C downstream_gene_variant LINC-JP 3 23930812 23930812 single base substitution A C intron_variant LINC-JP 3 23930812 23930812 single base substitution A C missense_variant Q149H 447A>C LIRI-JP 3 23845126 23845126 deletion of <=200bp A - upstream_gene_variant LIRI-JP 3 23845741 23845750 deletion of <=200bp ATCTTTTCAT - upstream_gene_variant LIRI-JP 3 23846023 23846023 single base substitution T G upstream_gene_variant LIRI-JP 3 23850442 23850442 single base substitution G A downstream_gene_variant LIRI-JP 3 23850442 23850442 single base substitution G A intron_variant LIRI-JP 3 23850442 23850442 single base substitution G A upstream_gene_variant LIRI-JP 3 23850856 23850856 single base substitution G A downstream_gene_variant LIRI-JP 3 23850856 23850856 single base substitution G A intron_variant LIRI-JP 3 23850856 23850856 single base substitution G A upstream_gene_variant LIRI-JP 3 23851784 23851784 single base substitution C G downstream_gene_variant LIRI-JP 3 23851784 23851784 single base substitution C G intron_variant LIRI-JP 3 23851784 23851784 single base substitution C G upstream_gene_variant LIRI-JP 3 23854059 23854059 single base substitution G A downstream_gene_variant LIRI-JP 3 23854059 23854059 single base substitution G A intron_variant LIRI-JP 3 23854392 23854392 single base substitution C A downstream_gene_variant LIRI-JP 3 23854392 23854392 single base substitution C A intron_variant LIRI-JP 3 23854852 23854852 single base substitution T C downstream_gene_variant LIRI-JP 3 23854852 23854852 single base substitution T C intron_variant LIRI-JP 3 23856218 23856218 single base substitution G T intron_variant LIRI-JP 3 23856949 23856949 single base substitution C G intron_variant LIRI-JP 3 23857881 23857881 single base substitution T A intron_variant LIRI-JP 3 23858781 23858781 single base substitution C T intron_variant LIRI-JP 3 23859302 23859302 single base substitution A G intron_variant LIRI-JP 3 23859893 23859893 single base substitution T A intron_variant LIRI-JP 3 23860216 23860216 single base substitution T C intron_variant LIRI-JP 3 23860489 23860489 single base substitution A G intron_variant LIRI-JP 3 23861331 23861331 single base substitution A G intron_variant LIRI-JP 3 23862788 23862788 single base substitution A G intron_variant LIRI-JP 3 23863792 23863792 single base substitution A G intron_variant LIRI-JP 3 23867332 23867332 single base substitution C T intron_variant LIRI-JP 3 23867649 23867649 single base substitution C A intron_variant LIRI-JP 3 23869091 23869091 single base substitution A G intron_variant LIRI-JP 3 23869724 23869724 single base substitution G A intron_variant LIRI-JP 3 23873251 23873251 single base substitution G A intron_variant LIRI-JP 3 23875480 23875480 single base substitution A T intron_variant LIRI-JP 3 23876344 23876344 single base substitution A G intron_variant LIRI-JP 3 23877165 23877165 single base substitution A G intron_variant LIRI-JP 3 23877174 23877174 single base substitution T G intron_variant LIRI-JP 3 23881166 23881166 single base substitution T G intron_variant LIRI-JP 3 23881509 23881509 single base substitution A G intron_variant LIRI-JP 3 23882317 23882317 single base substitution T G intron_variant LIRI-JP 3 23883244 23883244 single base substitution T G intron_variant LIRI-JP 3 23886132 23886132 single base substitution C T intron_variant LIRI-JP 3 23886327 23886327 single base substitution T C intron_variant LIRI-JP 3 23889200 23889200 single base substitution A G intron_variant LIRI-JP 3 23890568 23890568 single base substitution A T intron_variant LIRI-JP 3 23891083 23891083 single base substitution G T intron_variant LIRI-JP 3 23894457 23894457 single base substitution G A intron_variant LIRI-JP 3 23900614 23900614 single base substitution A T intron_variant LIRI-JP 3 23901390 23901390 single base substitution A G intron_variant LIRI-JP 3 23901937 23901937 single base substitution A G intron_variant LIRI-JP 3 23903455 23903455 single base substitution A C intron_variant LIRI-JP 3 23903455 23903455 single base substitution A C upstream_gene_variant LIRI-JP 3 23904931 23904931 single base substitution A G intron_variant LIRI-JP 3 23904931 23904931 single base substitution A G upstream_gene_variant LIRI-JP 3 23904999 23904999 single base substitution A G intron_variant LIRI-JP 3 23904999 23904999 single base substitution A G upstream_gene_variant LIRI-JP 3 23905719 23905719 single base substitution C T intron_variant LIRI-JP 3 23905719 23905719 single base substitution C T upstream_gene_variant LIRI-JP 3 23906223 23906223 single base substitution T G intron_variant LIRI-JP 3 23906223 23906223 single base substitution T G upstream_gene_variant LIRI-JP 3 23907291 23907291 single base substitution A G intron_variant LIRI-JP 3 23907291 23907291 single base substitution A G upstream_gene_variant LIRI-JP 3 23907438 23907438 deletion of <=200bp A - intron_variant LIRI-JP 3 23907438 23907438 deletion of <=200bp A - upstream_gene_variant LIRI-JP 3 23910415 23910415 single base substitution A G intron_variant LIRI-JP 3 23918311 23918311 single base substitution T A intron_variant LIRI-JP 3 23918587 23918587 single base substitution A G intron_variant LIRI-JP 3 23920887 23920887 insertion of <=200bp - T intron_variant LIRI-JP 3 23921264 23921264 single base substitution T G intron_variant LIRI-JP 3 23921998 23921998 single base substitution C G intron_variant LIRI-JP 3 23922156 23922156 single base substitution A C intron_variant LIRI-JP 3 23922909 23922909 single base substitution G C intron_variant LIRI-JP 3 23924567 23924567 single base substitution T A intron_variant LIRI-JP 3 23924588 23924588 single base substitution T G intron_variant LIRI-JP 3 23925878 23925878 single base substitution A G intron_variant LIRI-JP 3 23928020 23928020 single base substitution A G intron_variant LIRI-JP 3 23929950 23929976 deletion of <=200bp ACAAATAAAAATTAAGAGACCCAAATA - downstream_gene_variant LIRI-JP 3 23929950 23929976 deletion of <=200bp ACAAATAAAAATTAAGAGACCCAAATA - intron_variant LIRI-JP 3 23930319 23930319 single base substitution T G downstream_gene_variant LIRI-JP 3 23930319 23930319 single base substitution T G intron_variant LIRI-JP 3 23930622 23930623 deletion of <=200bp TC - downstream_gene_variant LIRI-JP 3 23930622 23930623 deletion of <=200bp TC - exon_variant LIRI-JP 3 23930622 23930623 deletion of <=200bp TC - frameshift_variant I102 LIRI-JP 3 23930622 23930623 deletion of <=200bp TC - frameshift_variant I119 LIRI-JP 3 23930622 23930623 deletion of <=200bp TC - frameshift_variant I77 LIRI-JP 3 23930622 23930623 deletion of <=200bp TC - frameshift_variant I86 LIRI-JP 3 23931451 23931451 single base substitution T C downstream_gene_variant LIRI-JP 3 23931451 23931451 single base substitution T C intron_variant LIRI-JP 3 23932241 23932241 single base substitution T C 3_prime_UTR_variant LIRI-JP 3 23932241 23932241 single base substitution T C downstream_gene_variant LIRI-JP 3 23932241 23932241 single base substitution T C exon_variant LIRI-JP 3 23932285 23932285 single base substitution T A 3_prime_UTR_variant LIRI-JP 3 23932285 23932285 single base substitution T A downstream_gene_variant LIRI-JP 3 23932285 23932285 single base substitution T A exon_variant LIRI-JP 3 23932584 23932584 single base substitution T C 3_prime_UTR_variant LIRI-JP 3 23932584 23932584 single base substitution T C downstream_gene_variant LIRI-JP 3 23932623 23932623 single base substitution C A 3_prime_UTR_variant LIRI-JP 3 23932623 23932623 single base substitution C A downstream_gene_variant LIRI-JP 3 23933891 23933891 single base substitution A T downstream_gene_variant LIRI-JP 3 23936185 23936185 single base substitution T G downstream_gene_variant LIRI-JP 3 23936367 23936367 single base substitution A C downstream_gene_variant LUSC-KR 3 23846255 23846255 single base substitution G A upstream_gene_variant LUSC-KR 3 23852857 23852857 single base substitution G T downstream_gene_variant LUSC-KR 3 23852857 23852857 single base substitution G T intron_variant LUSC-KR 3 23852857 23852857 single base substitution G T upstream_gene_variant LUSC-KR 3 23856158 23856158 single base substitution G T intron_variant LUSC-KR 3 23860320 23860320 single base substitution G A intron_variant LUSC-KR 3 23867557 23867557 single base substitution C T intron_variant LUSC-KR 3 23868355 23868355 single base substitution G C intron_variant LUSC-KR 3 23874386 23874386 single base substitution G A intron_variant LUSC-KR 3 23887108 23887108 single base substitution A G intron_variant LUSC-KR 3 23889009 23889009 single base substitution A T intron_variant LUSC-KR 3 23889981 23889981 single base substitution C A intron_variant LUSC-KR 3 23895422 23895422 single base substitution G C intron_variant LUSC-KR 3 23921062 23921062 single base substitution C T intron_variant LUSC-KR 3 23921862 23921862 single base substitution G A intron_variant LUSC-KR 3 23924369 23924369 single base substitution G C intron_variant LUSC-KR 3 23935314 23935314 single base substitution T A downstream_gene_variant LUSC-US 3 23934649 23934649 single base substitution C G downstream_gene_variant MALY-DE 3 23859088 23859088 single base substitution A C intron_variant MALY-DE 3 23875918 23875918 single base substitution C G intron_variant MALY-DE 3 23883765 23883765 single base substitution T C intron_variant MALY-DE 3 23885471 23885471 single base substitution C A intron_variant MALY-DE 3 23894676 23894676 single base substitution G A intron_variant MALY-DE 3 23901409 23901409 single base substitution A G intron_variant MALY-DE 3 23908645 23908645 single base substitution T G intron_variant MALY-DE 3 23923156 23923156 single base substitution A T intron_variant MALY-DE 3 23923645 23923645 single base substitution G A intron_variant MALY-DE 3 23926432 23926432 single base substitution T A intron_variant MALY-DE 3 23929048 23929048 single base substitution T A intron_variant MALY-DE 3 23930923 23930923 single base substitution C G downstream_gene_variant MALY-DE 3 23930923 23930923 single base substitution C G intron_variant MALY-DE 3 23935927 23935927 single base substitution G C downstream_gene_variant MELA-AU 3 23842660 23842660 single base substitution G A upstream_gene_variant MELA-AU 3 23842985 23842985 single base substitution C T upstream_gene_variant MELA-AU 3 23843173 23843173 single base substitution G A upstream_gene_variant MELA-AU 3 23843574 23843574 single base substitution G A upstream_gene_variant MELA-AU 3 23843611 23843611 single base substitution C T upstream_gene_variant MELA-AU 3 23844617 23844617 single base substitution G A upstream_gene_variant MELA-AU 3 23845138 23845138 single base substitution G A upstream_gene_variant MELA-AU 3 23845267 23845267 single base substitution G A upstream_gene_variant MELA-AU 3 23845545 23845545 single base substitution C T upstream_gene_variant MELA-AU 3 23845849 23845849 single base substitution C T upstream_gene_variant MELA-AU 3 23846898 23846898 single base substitution G A upstream_gene_variant MELA-AU 3 23847952 23847952 single base substitution C T intron_variant MELA-AU 3 23847952 23847952 single base substitution C T upstream_gene_variant MELA-AU 3 23849184 23849184 single base substitution C T exon_variant MELA-AU 3 23849184 23849184 single base substitution C T intron_variant MELA-AU 3 23849184 23849184 single base substitution C T upstream_gene_variant MELA-AU 3 23849849 23849850 multiple base substitution (>=2bp and <=200bp) CC TT downstream_gene_variant MELA-AU 3 23849849 23849850 multiple base substitution (>=2bp and <=200bp) CC TT intron_variant MELA-AU 3 23849849 23849850 multiple base substitution (>=2bp and <=200bp) CC TT upstream_gene_variant MELA-AU 3 23851139 23851139 single base substitution G A downstream_gene_variant MELA-AU 3 23851139 23851139 single base substitution G A intron_variant MELA-AU 3 23851139 23851139 single base substitution G A upstream_gene_variant MELA-AU 3 23853198 23853198 single base substitution G A downstream_gene_variant MELA-AU 3 23853198 23853198 single base substitution G A intron_variant MELA-AU 3 23853815 23853815 single base substitution T A downstream_gene_variant MELA-AU 3 23853815 23853815 single base substitution T A intron_variant MELA-AU 3 23854106 23854106 single base substitution T G downstream_gene_variant MELA-AU 3 23854106 23854106 single base substitution T G intron_variant MELA-AU 3 23854525 23854525 single base substitution C T downstream_gene_variant MELA-AU 3 23854525 23854525 single base substitution C T intron_variant MELA-AU 3 23854601 23854601 single base substitution C T downstream_gene_variant MELA-AU 3 23854601 23854601 single base substitution C T intron_variant MELA-AU 3 23854979 23854979 single base substitution A T downstream_gene_variant MELA-AU 3 23854979 23854979 single base substitution A T intron_variant MELA-AU 3 23855002 23855002 single base substitution T G downstream_gene_variant MELA-AU 3 23855002 23855002 single base substitution T G intron_variant MELA-AU 3 23855331 23855331 single base substitution C T intron_variant MELA-AU 3 23855444 23855444 single base substitution G A intron_variant MELA-AU 3 23855999 23855999 insertion of <=200bp - AC intron_variant MELA-AU 3 23857283 23857283 single base substitution C T intron_variant MELA-AU 3 23858303 23858303 single base substitution A G intron_variant MELA-AU 3 23858358 23858358 single base substitution C T intron_variant MELA-AU 3 23858850 23858850 single base substitution T C intron_variant MELA-AU 3 23861040 23861040 single base substitution A G intron_variant MELA-AU 3 23863252 23863252 single base substitution G A intron_variant MELA-AU 3 23863282 23863282 single base substitution G A intron_variant MELA-AU 3 23863450 23863450 single base substitution T C intron_variant MELA-AU 3 23863801 23863801 single base substitution C T intron_variant MELA-AU 3 23863914 23863914 single base substitution G A intron_variant MELA-AU 3 23863934 23863934 single base substitution T G intron_variant MELA-AU 3 23864170 23864170 single base substitution C T intron_variant MELA-AU 3 23864454 23864454 single base substitution C T intron_variant MELA-AU 3 23865889 23865889 single base substitution A G intron_variant MELA-AU 3 23866037 23866038 multiple base substitution (>=2bp and <=200bp) CC TT intron_variant MELA-AU 3 23866357 23866357 single base substitution C T intron_variant MELA-AU 3 23871120 23871120 single base substitution G A intron_variant MELA-AU 3 23871206 23871206 single base substitution G A intron_variant MELA-AU 3 23872335 23872335 single base substitution C T intron_variant MELA-AU 3 23873120 23873120 single base substitution C T intron_variant MELA-AU 3 23874605 23874605 single base substitution C T intron_variant MELA-AU 3 23875264 23875264 single base substitution G A intron_variant MELA-AU 3 23875371 23875372 multiple base substitution (>=2bp and <=200bp) CC TA intron_variant MELA-AU 3 23876326 23876326 single base substitution A C intron_variant MELA-AU 3 23876571 23876572 multiple base substitution (>=2bp and <=200bp) CC TT intron_variant MELA-AU 3 23876842 23876842 single base substitution C T intron_variant MELA-AU 3 23876912 23876912 single base substitution C T intron_variant MELA-AU 3 23877218 23877218 single base substitution C T intron_variant MELA-AU 3 23878255 23878255 single base substitution C T intron_variant MELA-AU 3 23878516 23878516 single base substitution C T intron_variant MELA-AU 3 23878861 23878861 single base substitution C T intron_variant MELA-AU 3 23879027 23879027 single base substitution C T intron_variant MELA-AU 3 23879325 23879325 single base substitution C T intron_variant MELA-AU 3 23879945 23879945 single base substitution C T intron_variant MELA-AU 3 23880440 23880440 single base substitution T G intron_variant MELA-AU 3 23882203 23882203 single base substitution C A intron_variant MELA-AU 3 23882369 23882369 single base substitution C T intron_variant MELA-AU 3 23882420 23882420 single base substitution T G intron_variant MELA-AU 3 23883515 23883515 single base substitution C T intron_variant MELA-AU 3 23884462 23884462 single base substitution C T intron_variant MELA-AU 3 23884605 23884605 single base substitution T A intron_variant MELA-AU 3 23885511 23885512 multiple base substitution (>=2bp and <=200bp) CT GA intron_variant MELA-AU 3 23885901 23885901 single base substitution C T intron_variant MELA-AU 3 23885934 23885934 single base substitution C T intron_variant MELA-AU 3 23886920 23886920 single base substitution C T intron_variant MELA-AU 3 23886921 23886921 single base substitution C T intron_variant MELA-AU 3 23887741 23887741 single base substitution C T intron_variant MELA-AU 3 23888210 23888210 single base substitution G A intron_variant MELA-AU 3 23888792 23888792 single base substitution C T intron_variant MELA-AU 3 23889113 23889113 single base substitution G A intron_variant MELA-AU 3 23889823 23889823 single base substitution G T intron_variant MELA-AU 3 23889841 23889841 single base substitution A G intron_variant MELA-AU 3 23890514 23890514 single base substitution G A intron_variant MELA-AU 3 23891143 23891143 single base substitution C T intron_variant MELA-AU 3 23891270 23891270 single base substitution C T intron_variant MELA-AU 3 23891464 23891464 single base substitution A C intron_variant MELA-AU 3 23892035 23892036 multiple base substitution (>=2bp and <=200bp) GG AA intron_variant MELA-AU 3 23892275 23892276 multiple base substitution (>=2bp and <=200bp) CC TT intron_variant MELA-AU 3 23892720 23892720 single base substitution T C intron_variant MELA-AU 3 23893047 23893047 single base substitution C T intron_variant MELA-AU 3 23893510 23893510 single base substitution G A intron_variant MELA-AU 3 23895166 23895166 single base substitution C T intron_variant MELA-AU 3 23896173 23896173 single base substitution T G intron_variant MELA-AU 3 23899383 23899383 single base substitution C T intron_variant MELA-AU 3 23903308 23903308 single base substitution C T intron_variant MELA-AU 3 23903308 23903308 single base substitution C T upstream_gene_variant MELA-AU 3 23903506 23903506 single base substitution C T intron_variant MELA-AU 3 23903506 23903506 single base substitution C T upstream_gene_variant MELA-AU 3 23903673 23903673 single base substitution C T intron_variant MELA-AU 3 23903673 23903673 single base substitution C T upstream_gene_variant MELA-AU 3 23904729 23904729 single base substitution C T intron_variant MELA-AU 3 23904729 23904729 single base substitution C T upstream_gene_variant MELA-AU 3 23905351 23905351 single base substitution C T intron_variant MELA-AU 3 23905351 23905351 single base substitution C T upstream_gene_variant MELA-AU 3 23905404 23905404 single base substitution T C intron_variant MELA-AU 3 23905404 23905404 single base substitution T C upstream_gene_variant MELA-AU 3 23905552 23905552 single base substitution C T intron_variant MELA-AU 3 23905552 23905552 single base substitution C T upstream_gene_variant MELA-AU 3 23906408 23906408 single base substitution G T intron_variant MELA-AU 3 23906408 23906408 single base substitution G T upstream_gene_variant MELA-AU 3 23908498 23908498 single base substitution G A intron_variant MELA-AU 3 23909831 23909831 single base substitution C T intron_variant MELA-AU 3 23909835 23909835 single base substitution C T intron_variant MELA-AU 3 23910008 23910008 single base substitution C T intron_variant MELA-AU 3 23911364 23911364 single base substitution C T intron_variant MELA-AU 3 23911644 23911644 single base substitution A T intron_variant MELA-AU 3 23911862 23911862 single base substitution T C intron_variant MELA-AU 3 23912884 23912884 single base substitution C T intron_variant MELA-AU 3 23913185 23913185 single base substitution G C intron_variant MELA-AU 3 23913327 23913327 single base substitution C T intron_variant MELA-AU 3 23914825 23914825 single base substitution C T intron_variant MELA-AU 3 23914864 23914864 single base substitution G C intron_variant MELA-AU 3 23914897 23914897 single base substitution C T intron_variant MELA-AU 3 23915420 23915420 single base substitution A T intron_variant MELA-AU 3 23915667 23915667 single base substitution C T intron_variant MELA-AU 3 23915776 23915776 single base substitution C G intron_variant MELA-AU 3 23915837 23915837 single base substitution A G intron_variant MELA-AU 3 23916177 23916177 single base substitution C T intron_variant MELA-AU 3 23917636 23917636 single base substitution C T intron_variant MELA-AU 3 23917732 23917732 single base substitution A T intron_variant MELA-AU 3 23918052 23918052 single base substitution G A intron_variant MELA-AU 3 23919154 23919154 deletion of <=200bp G - intron_variant MELA-AU 3 23919525 23919525 single base substitution C T intron_variant MELA-AU 3 23919647 23919647 single base substitution G A intron_variant MELA-AU 3 23921771 23921772 multiple base substitution (>=2bp and <=200bp) GG AA intron_variant MELA-AU 3 23921778 23921778 single base substitution G T intron_variant MELA-AU 3 23922279 23922279 single base substitution G A intron_variant MELA-AU 3 23923090 23923090 single base substitution C T intron_variant MELA-AU 3 23924492 23924492 single base substitution G C intron_variant MELA-AU 3 23924909 23924909 single base substitution A T intron_variant MELA-AU 3 23925773 23925773 single base substitution A G intron_variant MELA-AU 3 23927368 23927368 single base substitution A C intron_variant MELA-AU 3 23928012 23928012 single base substitution C T intron_variant MELA-AU 3 23929215 23929215 single base substitution A C exon_variant MELA-AU 3 23929215 23929215 single base substitution A C intron_variant MELA-AU 3 23931975 23931975 single base substitution A G downstream_gene_variant MELA-AU 3 23931975 23931975 single base substitution A G intron_variant MELA-AU 3 23932990 23932990 single base substitution A T downstream_gene_variant MELA-AU 3 23934872 23934873 multiple base substitution (>=2bp and <=200bp) AC CT downstream_gene_variant MELA-AU 3 23935544 23935544 single base substitution T A downstream_gene_variant MELA-AU 3 23935956 23935956 single base substitution C G downstream_gene_variant MELA-AU 3 23936095 23936095 single base substitution G A downstream_gene_variant MELA-AU 3 23936630 23936630 single base substitution G A downstream_gene_variant ORCA-IN 3 23846124 23846124 single base substitution G C upstream_gene_variant ORCA-IN 3 23864112 23864112 single base substitution C G intron_variant ORCA-IN 3 23894755 23894755 single base substitution G A intron_variant ORCA-IN 3 23916169 23916169 single base substitution G A intron_variant OV-AU 3 23844496 23844496 single base substitution C A upstream_gene_variant OV-AU 3 23847511 23847511 single base substitution T C 5_prime_UTR_variant OV-AU 3 23847511 23847511 single base substitution T C exon_variant OV-AU 3 23847511 23847511 single base substitution T C upstream_gene_variant OV-AU 3 23848755 23848755 single base substitution T G 5_prime_UTR_variant OV-AU 3 23848755 23848755 single base substitution T G exon_variant OV-AU 3 23848755 23848755 single base substitution T G upstream_gene_variant OV-AU 3 23875413 23875413 single base substitution C G intron_variant OV-AU 3 23879790 23879790 single base substitution T C intron_variant OV-AU 3 23879796 23879796 single base substitution G A intron_variant OV-AU 3 23880695 23880695 single base substitution C G intron_variant OV-AU 3 23882782 23882782 single base substitution G T intron_variant OV-AU 3 23888116 23888116 single base substitution G C intron_variant OV-AU 3 23888854 23888854 single base substitution A G intron_variant OV-AU 3 23892315 23892315 single base substitution C A intron_variant OV-AU 3 23893944 23893944 single base substitution T A intron_variant OV-AU 3 23898464 23898464 single base substitution G A intron_variant OV-AU 3 23899183 23899183 single base substitution G A intron_variant OV-AU 3 23899602 23899602 single base substitution C T intron_variant OV-AU 3 23903572 23903572 single base substitution C T intron_variant OV-AU 3 23903572 23903572 single base substitution C T upstream_gene_variant OV-AU 3 23925884 23925884 single base substitution C T intron_variant PACA-AU 3 23842769 23842769 single base substitution G C upstream_gene_variant PACA-AU 3 23847909 23847909 single base substitution G A intron_variant PACA-AU 3 23847909 23847909 single base substitution G A upstream_gene_variant PACA-AU 3 23855054 23855054 single base substitution G A downstream_gene_variant PACA-AU 3 23855054 23855054 single base substitution G A intron_variant PACA-AU 3 23858062 23858062 single base substitution G C intron_variant PACA-AU 3 23858837 23858837 single base substitution C A intron_variant PACA-AU 3 23874233 23874233 single base substitution G T intron_variant PACA-AU 3 23892472 23892472 single base substitution C T intron_variant PACA-AU 3 23898857 23898857 single base substitution C A intron_variant PACA-AU 3 23904992 23904992 single base substitution C T intron_variant PACA-AU 3 23904992 23904992 single base substitution C T upstream_gene_variant PACA-AU 3 23915667 23915667 single base substitution C T intron_variant PACA-AU 3 23917644 23917644 single base substitution G T intron_variant PACA-AU 3 23923985 23923985 single base substitution C T intron_variant PACA-AU 3 23928564 23928564 single base substitution T C intron_variant PACA-AU 3 23932074 23932074 single base substitution T C downstream_gene_variant PACA-AU 3 23932074 23932074 single base substitution T C exon_variant PACA-AU 3 23932074 23932074 single base substitution T C missense_variant W145R 433T>C PACA-AU 3 23932074 23932074 single base substitution T C missense_variant W154R 460T>C PACA-AU 3 23932074 23932074 single base substitution T C missense_variant W170R 508T>C PACA-AU 3 23932074 23932074 single base substitution T C missense_variant W187R 559T>C PACA-AU 3 23933381 23933381 single base substitution G A downstream_gene_variant PACA-AU 3 23935109 23935109 single base substitution C A downstream_gene_variant PACA-AU 3 23936107 23936107 insertion of <=200bp - CTGCATCCTCCACCT downstream_gene_variant PACA-CA 3 23850455 23850455 single base substitution C A downstream_gene_variant PACA-CA 3 23850455 23850455 single base substitution C A intron_variant PACA-CA 3 23850455 23850455 single base substitution C A upstream_gene_variant PACA-CA 3 23853800 23853800 single base substitution T A downstream_gene_variant PACA-CA 3 23853800 23853800 single base substitution T A intron_variant PACA-CA 3 23858067 23858067 single base substitution G A intron_variant PACA-CA 3 23858770 23858770 single base substitution G A intron_variant PACA-CA 3 23859037 23859037 single base substitution G A intron_variant PACA-CA 3 23859846 23859846 single base substitution G A intron_variant PACA-CA 3 23860801 23860801 single base substitution A G intron_variant PACA-CA 3 23869600 23869600 single base substitution C T intron_variant PACA-CA 3 23870601 23870601 single base substitution C T intron_variant PACA-CA 3 23873931 23873931 single base substitution T G intron_variant PACA-CA 3 23876250 23876250 single base substitution C T intron_variant PACA-CA 3 23877118 23877118 single base substitution T A intron_variant PACA-CA 3 23880737 23880737 single base substitution G A intron_variant PACA-CA 3 23886555 23886555 single base substitution T C intron_variant PACA-CA 3 23890276 23890276 single base substitution G T intron_variant PACA-CA 3 23891032 23891032 single base substitution T C intron_variant PACA-CA 3 23900156 23900156 insertion of <=200bp - A intron_variant PACA-CA 3 23905366 23905366 single base substitution C T intron_variant PACA-CA 3 23905366 23905366 single base substitution C T upstream_gene_variant PACA-CA 3 23907909 23907909 single base substitution G C exon_variant PACA-CA 3 23907909 23907909 single base substitution G C intron_variant PACA-CA 3 23908208 23908208 insertion of <=200bp - AA intron_variant PACA-CA 3 23909680 23909680 single base substitution G A intron_variant PACA-CA 3 23916527 23916527 single base substitution T G intron_variant PACA-CA 3 23916669 23916669 single base substitution G A intron_variant PACA-CA 3 23921173 23921173 single base substitution G A intron_variant PACA-CA 3 23921621 23921621 single base substitution C T intron_variant PACA-CA 3 23924177 23924177 single base substitution G A intron_variant PACA-CA 3 23924678 23924678 single base substitution T G intron_variant PACA-CA 3 23926918 23926918 single base substitution C T intron_variant PACA-CA 3 23928965 23928965 single base substitution A T intron_variant PACA-CA 3 23930593 23930593 deletion of <=200bp T - downstream_gene_variant PACA-CA 3 23930593 23930593 deletion of <=200bp T - intron_variant PACA-CA 3 23931404 23931404 single base substitution C T downstream_gene_variant PACA-CA 3 23931404 23931404 single base substitution C T intron_variant PACA-CA 3 23931422 23931422 single base substitution C T downstream_gene_variant PACA-CA 3 23931422 23931422 single base substitution C T intron_variant PACA-CA 3 23935558 23935558 single base substitution A G downstream_gene_variant PAEN-AU 3 23864217 23864217 single base substitution C G intron_variant PAEN-AU 3 23867467 23867467 single base substitution G T intron_variant PAEN-AU 3 23871930 23871930 single base substitution G T intron_variant PAEN-AU 3 23883742 23883742 insertion of <=200bp - TGT intron_variant PAEN-AU 3 23921104 23921104 single base substitution G A intron_variant PAEN-IT 3 23868759 23868759 single base substitution A G intron_variant PBCA-DE 3 23843398 23843398 single base substitution C T upstream_gene_variant PBCA-DE 3 23846396 23846396 deletion of <=200bp A - upstream_gene_variant PBCA-DE 3 23851628 23851628 single base substitution G C downstream_gene_variant PBCA-DE 3 23851628 23851628 single base substitution G C intron_variant PBCA-DE 3 23851628 23851628 single base substitution G C upstream_gene_variant PBCA-DE 3 23867332 23867332 single base substitution C T intron_variant PBCA-DE 3 23874473 23874474 deletion of <=200bp TG - intron_variant PBCA-DE 3 23879568 23879568 insertion of <=200bp - T intron_variant PBCA-DE 3 23888744 23888744 single base substitution A G intron_variant PBCA-DE 3 23898739 23898739 insertion of <=200bp - T intron_variant PBCA-DE 3 23910911 23910912 deletion of <=200bp TG - intron_variant PBCA-DE 3 23912876 23912876 deletion of <=200bp C - intron_variant PBCA-DE 3 23912887 23912887 deletion of <=200bp A - intron_variant PBCA-DE 3 23930001 23930001 single base substitution C T downstream_gene_variant PBCA-DE 3 23930001 23930001 single base substitution C T intron_variant PBCA-DE 3 23930664 23930664 single base substitution A G downstream_gene_variant PBCA-DE 3 23930664 23930664 single base substitution A G exon_variant PBCA-DE 3 23930664 23930664 single base substitution A G missense_variant D100G 299A>G PBCA-DE 3 23930664 23930664 single base substitution A G missense_variant D116G 347A>G PBCA-DE 3 23930664 23930664 single base substitution A G missense_variant D133G 398A>G PBCA-DE 3 23930664 23930664 single base substitution A G missense_variant D91G 272A>G PBCA-DE 3 23931683 23931683 single base substitution G A downstream_gene_variant PBCA-DE 3 23931683 23931683 single base substitution G A intron_variant PBCA-DE 3 23937326 23937326 single base substitution G A downstream_gene_variant PBCA-DE 3 23937468 23937468 single base substitution A G downstream_gene_variant PRAD-CA 3 23858156 23858156 single base substitution C T intron_variant PRAD-CA 3 23887080 23887080 single base substitution C G intron_variant PRAD-CA 3 23892281 23892281 single base substitution C A intron_variant PRAD-CA 3 23909122 23909122 single base substitution A G intron_variant PRAD-CA 3 23932537 23932537 single base substitution A G 3_prime_UTR_variant PRAD-CA 3 23932537 23932537 single base substitution A G downstream_gene_variant PRAD-CA 3 23932537 23932537 single base substitution A G exon_variant PRAD-UK 3 23850512 23850512 insertion of <=200bp - T downstream_gene_variant PRAD-UK 3 23850512 23850512 insertion of <=200bp - T intron_variant PRAD-UK 3 23850512 23850512 insertion of <=200bp - T upstream_gene_variant PRAD-UK 3 23873850 23873850 single base substitution G C intron_variant PRAD-UK 3 23887990 23887990 single base substitution C A intron_variant PRAD-UK 3 23893753 23893753 single base substitution C G intron_variant PRAD-UK 3 23900047 23900047 single base substitution A T intron_variant PRAD-UK 3 23903878 23903896 deletion of <=200bp CTTAGATACCATTACACTG - intron_variant PRAD-UK 3 23903878 23903896 deletion of <=200bp CTTAGATACCATTACACTG - upstream_gene_variant PRAD-UK 3 23922365 23922365 single base substitution T G intron_variant PRAD-UK 3 23930768 23930787 deletion of <=200bp TTACCTTGTTTTATTCTTCC - downstream_gene_variant PRAD-UK 3 23930768 23930787 deletion of <=200bp TTACCTTGTTTTATTCTTCC - frameshift_variant LPCFILP135 PRAD-UK 3 23930768 23930787 deletion of <=200bp TTACCTTGTTTTATTCTTCC - intron_variant PRAD-UK 3 23937309 23937309 single base substitution T C downstream_gene_variant PRAD-US 3 23847374 23847376 deletion of <=200bp GAG - upstream_gene_variant PRAD-US 3 23934708 23934708 single base substitution C T downstream_gene_variant RECA-EU 3 23848720 23848720 single base substitution C T 5_prime_UTR_variant RECA-EU 3 23848720 23848720 single base substitution C T intron_variant RECA-EU 3 23848720 23848720 single base substitution C T splice_region_variant RECA-EU 3 23848720 23848720 single base substitution C T upstream_gene_variant RECA-EU 3 23851230 23851230 single base substitution C T downstream_gene_variant RECA-EU 3 23851230 23851230 single base substitution C T intron_variant RECA-EU 3 23851230 23851230 single base substitution C T upstream_gene_variant RECA-EU 3 23853250 23853250 single base substitution A T downstream_gene_variant RECA-EU 3 23853250 23853250 single base substitution A T intron_variant RECA-EU 3 23863139 23863139 single base substitution G T intron_variant RECA-EU 3 23873114 23873114 single base substitution C G intron_variant RECA-EU 3 23887118 23887118 single base substitution A G intron_variant RECA-EU 3 23887499 23887499 single base substitution C T intron_variant RECA-EU 3 23900731 23900731 single base substitution T C intron_variant RECA-EU 3 23906615 23906615 single base substitution T G intron_variant RECA-EU 3 23906615 23906615 single base substitution T G upstream_gene_variant RECA-EU 3 23909221 23909221 single base substitution T C intron_variant SKCA-BR 3 23842624 23842624 single base substitution T A upstream_gene_variant SKCA-BR 3 23842924 23842924 single base substitution G A upstream_gene_variant SKCA-BR 3 23843554 23843554 single base substitution G A upstream_gene_variant SKCA-BR 3 23843640 23843640 single base substitution A G upstream_gene_variant SKCA-BR 3 23844412 23844412 single base substitution C T upstream_gene_variant SKCA-BR 3 23845608 23845608 single base substitution T A upstream_gene_variant SKCA-BR 3 23847546 23847546 single base substitution C T 5_prime_UTR_premature_start_codon_gain_variant SKCA-BR 3 23847546 23847546 single base substitution C T exon_variant SKCA-BR 3 23847546 23847546 single base substitution C T upstream_gene_variant SKCA-BR 3 23848748 23848748 single base substitution T G 5_prime_UTR_variant SKCA-BR 3 23848748 23848748 single base substitution T G exon_variant SKCA-BR 3 23848748 23848748 single base substitution T G upstream_gene_variant SKCA-BR 3 23848835 23848835 single base substitution A C exon_variant SKCA-BR 3 23848835 23848835 single base substitution A C missense_variant E25D 75A>C SKCA-BR 3 23848835 23848835 single base substitution A C upstream_gene_variant SKCA-BR 3 23852139 23852139 single base substitution T G downstream_gene_variant SKCA-BR 3 23852139 23852139 single base substitution T G intron_variant SKCA-BR 3 23852139 23852139 single base substitution T G upstream_gene_variant SKCA-BR 3 23876739 23876739 single base substitution T G intron_variant SKCA-BR 3 23876948 23876948 single base substitution A C intron_variant SKCA-BR 3 23877198 23877198 single base substitution A G intron_variant SKCA-BR 3 23878611 23878611 single base substitution A T intron_variant SKCA-BR 3 23880339 23880339 single base substitution C T intron_variant SKCA-BR 3 23887076 23887076 insertion of <=200bp - CTGTGTGTGTGTG intron_variant SKCA-BR 3 23887078 23887078 insertion of <=200bp - CTGTGTGTGTGTGTGTG intron_variant SKCA-BR 3 23887078 23887078 single base substitution C G intron_variant SKCA-BR 3 23887080 23887080 single base substitution C G intron_variant SKCA-BR 3 23887108 23887108 single base substitution A G intron_variant SKCA-BR 3 23888189 23888189 insertion of <=200bp - CAA intron_variant SKCA-BR 3 23888648 23888648 single base substitution T C intron_variant SKCA-BR 3 23889016 23889016 single base substitution C T intron_variant SKCA-BR 3 23890808 23890808 single base substitution C A intron_variant SKCA-BR 3 23892018 23892018 insertion of <=200bp - AT intron_variant SKCA-BR 3 23892420 23892420 single base substitution A C intron_variant SKCA-BR 3 23895874 23895874 single base substitution G A intron_variant SKCA-BR 3 23902336 23902336 single base substitution C T intron_variant SKCA-BR 3 23910759 23910759 single base substitution A G intron_variant SKCA-BR 3 23912173 23912173 insertion of <=200bp - ATTTTAT intron_variant SKCA-BR 3 23912931 23912931 single base substitution C T intron_variant SKCA-BR 3 23914268 23914268 single base substitution G T intron_variant SKCA-BR 3 23917039 23917039 single base substitution C T intron_variant SKCA-BR 3 23917040 23917040 single base substitution C T intron_variant SKCA-BR 3 23917175 23917175 single base substitution G A intron_variant SKCA-BR 3 23923701 23923721 deletion of <=200bp ATTTTACAGAGAGCTGATTGG - intron_variant SKCA-BR 3 23925395 23925395 insertion of <=200bp - CAA intron_variant SKCA-BR 3 23936542 23936542 insertion of <=200bp - GT downstream_gene_variant SKCM-US 3 23848885 23848885 single base substitution C T exon_variant SKCM-US 3 23848885 23848885 single base substitution C T missense_variant S42F 125C>T SKCM-US 3 23848885 23848885 single base substitution C T upstream_gene_variant SKCM-US 3 23934794 23934794 single base substitution A G downstream_gene_variant UCEC-US 3 23848788 23848788 single base substitution A G exon_variant UCEC-US 3 23848788 23848788 single base substitution A G missense_variant T10A 28A>G UCEC-US 3 23848788 23848788 single base substitution A G upstream_gene_variant UCEC-US 3 23848884 23848884 single base substitution T A exon_variant UCEC-US 3 23848884 23848884 single base substitution T A missense_variant S42T 124T>A UCEC-US 3 23848884 23848884 single base substitution T A upstream_gene_variant UCEC-US 3 23929190 23929190 single base substitution G A exon_variant UCEC-US 3 23929190 23929190 single base substitution G A splice_region_variant UCEC-US 3 23930625 23930625 single base substitution A G downstream_gene_variant UCEC-US 3 23930625 23930625 single base substitution A G exon_variant UCEC-US 3 23930625 23930625 single base substitution A G missense_variant Y103C 308A>G UCEC-US 3 23930625 23930625 single base substitution A G missense_variant Y120C 359A>G UCEC-US 3 23930625 23930625 single base substitution A G missense_variant Y78C 233A>G UCEC-US 3 23930625 23930625 single base substitution A G missense_variant Y87C 260A>G UCEC-US 3 23934596 23934596 single base substitution G A downstream_gene_variant UCEC-US 3 23934704 23934704 single base substitution C T downstream_gene_variant

Mutation - COSMIC Sample Name Mutation ID Mutation CDS Mutation AA Mutation Description Mutation Genome Position Mutation Strand TCGA-AA-A010-01 COSM286229 c.569G>T p.R190I Substitution - Missense 3:23890593-23890593 + BCB231T COSM5347452 c.136_137delTC p.S46fs*20 Deletion - Frameshift 3:23807405-23807406 + TCGA-CM-6674-01 COSM1422160 c.88_90delAAG p.K32delK Deletion - In frame 3:23807357-23807359 + TCGA-EA-A3HT-01 COSM4843361 c.153-1G>A p.? Unknown 3:23811459-23811459 + CSCC-31-T COSM4477173 c.212C>T p.P71L Substitution - Missense 3:23887575-23887575 + 8034061 COSM3392312 c.559T>C p.W187R Substitution - Missense 3:23890583-23890583 + pfg018T COSM1642222 c.202A>T p.S68C Substitution - Missense 3:23811509-23811509 + TCGA-AP-A0LM-01 COSM1043316 c.28A>G p.T10A Substitution - Missense 3:23807297-23807297 + T3116 COSM4738671 c.17C>T p.S6L Substitution - Missense 3:23807286-23807286 + SNUH_G45_S1 COSM4002628 c.403T>C p.L135L Substitution - coding silent 3:23889178-23889178 + sysucc-311T COSM5465826 c.523A>G p.T175A Substitution - Missense 3:23890547-23890547 + BRC18 COSM5025914 c.348G>A p.R116R Substitution - coding silent 3:23889123-23889123 + TCGA-AP-A051-01 COSM1043317 c.124T>A p.S42T Substitution - Missense 3:23807393-23807393 + C10 COSM4616590 c.127A>T p.K43* Substitution - Nonsense 3:23807396-23807396 + T3105 COSM4738670 c.6G>A p.S2S Substitution - coding silent 3:23807275-23807275 + TCGA-EE-A2GO-06 COSM3592067 c.125C>T p.S42F Substitution - Missense 3:23807394-23807394 + ESO-021 COSM1269617 c.443T>C p.V148A Substitution - Missense 3:23889218-23889218 + TCGA-C5-A7CO-01 COSM4856329 c.409G>C p.D137H Substitution - Missense 3:23889184-23889184 + TCGA-AC-A23H-01 COSM3823581 c.300C>T p.I100I Substitution - coding silent 3:23887663-23887663 + TCGA-A2-A0T0-01 COSM446305 c.491C>G p.P164R Substitution - Missense 3:23890515-23890515 + LUAD-B00416 COSM390999 c.203delG p.S68fs*17 Deletion - Frameshift 3:23811510-23811510 + TCGA-A5-A0GH-01 COSM1043318 c.336G>A p.K112K Substitution - coding silent 3:23887699-23887699 + ICGC_MB58 COSM3670319 c.398A>G p.D133G Substitution - Missense 3:23889173-23889173 + 3N29-VS-3T29 COSM4980486 c.248T>C p.I83T Substitution - Missense 3:23887611-23887611 + pfg017T COSM1642223 c.337-10delT p.? Unknown 3:23889102-23889102 + Pat_41_B COSM5864244 c.442G>A p.V148I Substitution - Missense 3:23889217-23889217 + U2940 COSM5622096 c.110G>A p.S37N Substitution - Missense 3:23807379-23807379 + TCGA-AA-3715-01 COSM270488 c.164A>G p.E55G Substitution - Missense 3:23811471-23811471 + LS411 COSM2948562 c.67G>T p.E23* Substitution - Nonsense 3:23807336-23807336 + TCGA-A5-A0RA-01 COSM1043319 c.359A>G p.Y120C Substitution - Missense 3:23889134-23889134 + RK022_C01 COSM1633103 c.356_357delTC p.Y120fs*3 Deletion - Frameshift 3:23889131-23889132 +

Mutation - CGAP UNIGENE CYTOBAND OMIM SNP Hs.164853 3p24.2 602916

Mutation - IntOGen Mutated from(ref) Mutated to(alt) Consequence Type AA Mutation CDS Mutation Chr Pos Cancer A G Missense p.D133G c.398A>G 3 23930664 MB A G Missense p.Y120C c.359A>G 3 23930625 UCEC A G Synonymous p.A142A c.426A>G 3 23930692 COREAD A T Missense p.S68C c.202A>T 3 23853000 STAD C A Nonsense p.Y191* c.573C>A 3 23932088 HNSC C G Missense p.P164R c.491C>G 3 23932006 BRCA C T IntronicSNV . c.204-8113C>T 3 23920945 CM C T Missense p.S42F c.125C>T 3 23848885 CM G A Synonymous p.K112K c.336G>A 3 23929190 UCEC G A Synonymous p.R116R c.348G>A 3 23930614 BRCA T A IntronicSNV . c.336+71T>A 3 23929261 CM TC - Frameshift p.I119Lfs*4 c.355_356delAT 3 23930621 HC T C Missense p.V148A c.443T>C 3 23930709 ESCA T - IntronicDeletion . c.337-3delT 3 23930593 STAD