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 CESC 4 1719975 1719975 + Missense_Mutation SNP C C T TCGA-EA-A5O9-01A-11D-A28B-09 TCGA-EA-A5O9-10A-01D-A28E-09 g.chr4:1719975C>T c.584G>A c.(583-585)cGg>cAg p.R195Q COAD 4 1719052 1719052 + Missense_Mutation SNP C C T TCGA-CM-6674-01A-11D-1835-10 TCGA-CM-6674-10A-01D-1835-10 g.chr4:1719052C>T c.944G>A c.(943-945)cGc>cAc p.R315H COAD 4 1720258 1720258 + Missense_Mutation SNP C C T TCGA-AD-6895-01A-11D-1924-10 TCGA-AD-6895-10A-01D-1924-10 g.chr4:1720258C>T c.301G>A c.(301-303)Gtg>Atg p.V101M COAD 4 1720313 1720313 + Silent SNP C C T TCGA-CM-4743-01A-01D-1719-10 TCGA-CM-4743-10A-01D-1719-10 g.chr4:1720313C>T c.246G>A c.(244-246)cgG>cgA p.R82R COAD 4 1722454 1722454 + Silent SNP C C G TCGA-DM-A0XD-01A-12D-A152-10 TCGA-DM-A0XD-10A-01D-A152-10 g.chr4:1722454C>G c.111G>C c.(109-111)ctG>ctC p.L37L COADREAD 4 1719052 1719052 + Missense_Mutation SNP C C T TCGA-CM-6674-01A-11D-1835-10 TCGA-CM-6674-10A-01D-1835-10 g.chr4:1719052C>T c.944G>A c.(943-945)cGc>cAc p.R315H COADREAD 4 1720258 1720258 + Missense_Mutation SNP C C T TCGA-AD-6895-01A-11D-1924-10 TCGA-AD-6895-10A-01D-1924-10 g.chr4:1720258C>T c.301G>A c.(301-303)Gtg>Atg p.V101M COADREAD 4 1720313 1720313 + Silent SNP C C T TCGA-CM-4743-01A-01D-1719-10 TCGA-CM-4743-10A-01D-1719-10 g.chr4:1720313C>T c.246G>A c.(244-246)cgG>cgA p.R82R COADREAD 4 1722454 1722454 + Silent SNP C C G TCGA-DM-A0XD-01A-12D-A152-10 TCGA-DM-A0XD-10A-01D-A152-10 g.chr4:1722454C>G c.111G>C c.(109-111)ctG>ctC p.L37L ESCA 4 1719363 1719363 + Silent SNP G G T TCGA-L5-A8NM-01A-11D-A37C-09 TCGA-L5-A8NM-11A-12D-A37F-09 g.chr4:1719363G>T c.720C>A c.(718-720)ctC>ctA p.L240L ESCA 4 1720170 1720171 + Frame_Shift_Ins INS - - G TCGA-LN-A49L-01A-11D-A247-09 TCGA-LN-A49L-10A-01D-A247-09 g.chr4:1720170_1720171insG c.388_389insC c.(388-390)ctcfs p.L130fs GBMLGG 4 1722422 1722422 + Frame_Shift_Del DEL A A - TCGA-HT-A614-01A-11D-A29Q-08 TCGA-HT-A614-10A-01D-A29Q-08 g.chr4:1722422delA c.143delT c.(142-144)ttcfs p.F48fs HNSC 4 1719932 1719932 + Silent SNP G G A TCGA-BB-A5HU-01A-11D-A28R-08 TCGA-BB-A5HU-10A-01D-A28U-08 g.chr4:1719932G>A c.627C>T c.(625-627)ctC>ctT p.L209L KIPAN 4 1719303 1719303 + Missense_Mutation SNP G G C TCGA-CJ-4634-01A-02D-1386-10 TCGA-CJ-4634-11A-01D-1251-10 g.chr4:1719303G>C c.780C>G c.(778-780)ttC>ttG p.F260L KIRC 4 1719303 1719303 + Missense_Mutation SNP G G C TCGA-CJ-4634-01A-02D-1386-10 TCGA-CJ-4634-11A-01D-1251-10 g.chr4:1719303G>C c.780C>G c.(778-780)ttC>ttG p.F260L LGG 4 1722422 1722422 + Frame_Shift_Del DEL A A - TCGA-HT-A614-01A-11D-A29Q-08 TCGA-HT-A614-10A-01D-A29Q-08 g.chr4:1722422delA c.143delT c.(142-144)ttcfs p.F48fs LUAD 4 1719959 1719959 + Silent SNP C C G TCGA-05-4396-01A-21D-1855-08 TCGA-05-4396-10A-01D-1855-08 g.chr4:1719959C>G c.600G>C c.(598-600)tcG>tcC p.S200S

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 4 1725159 1725159 single base substitution A G upstream_gene_variant BRCA-EU 4 1712990 1712990 single base substitution C G downstream_gene_variant BRCA-EU 4 1712997 1712997 single base substitution G C downstream_gene_variant BRCA-EU 4 1713318 1713318 single base substitution G C downstream_gene_variant BRCA-EU 4 1715549 1715549 single base substitution G A downstream_gene_variant BRCA-EU 4 1716199 1716199 single base substitution G C downstream_gene_variant BRCA-EU 4 1717458 1717458 single base substitution G C downstream_gene_variant BRCA-EU 4 1717471 1717471 single base substitution C G downstream_gene_variant BRCA-EU 4 1718607 1718607 single base substitution G T 3_prime_UTR_variant BRCA-EU 4 1718607 1718607 single base substitution G T downstream_gene_variant BRCA-EU 4 1718607 1718607 single base substitution G T exon_variant BRCA-EU 4 1719914 1719914 single base substitution G A downstream_gene_variant BRCA-EU 4 1719914 1719914 single base substitution G A exon_variant BRCA-EU 4 1719914 1719914 single base substitution G A synonymous_variant A215A 645C>T BRCA-EU 4 1719914 1719914 single base substitution G A upstream_gene_variant BRCA-EU 4 1721332 1721332 single base substitution G C intron_variant BRCA-EU 4 1721332 1721332 single base substitution G C upstream_gene_variant BRCA-EU 4 1721520 1721520 single base substitution C T intron_variant BRCA-EU 4 1721520 1721520 single base substitution C T upstream_gene_variant BRCA-EU 4 1722810 1722810 single base substitution T A 5_prime_UTR_variant BRCA-EU 4 1722810 1722810 single base substitution T A upstream_gene_variant BRCA-EU 4 1723677 1723677 single base substitution C T upstream_gene_variant BRCA-EU 4 1725758 1725758 single base substitution C T upstream_gene_variant BRCA-EU 4 1725904 1725904 single base substitution G A upstream_gene_variant BRCA-FR 4 1717106 1717106 single base substitution C A downstream_gene_variant BRCA-FR 4 1721520 1721520 single base substitution C T intron_variant BRCA-FR 4 1721520 1721520 single base substitution C T upstream_gene_variant BRCA-UK 4 1715549 1715549 single base substitution G A downstream_gene_variant BRCA-US 4 1719273 1719273 single base substitution G A 3_prime_UTR_variant BRCA-US 4 1719273 1719273 single base substitution G A downstream_gene_variant BRCA-US 4 1719273 1719273 single base substitution G A exon_variant BRCA-US 4 1719273 1719273 single base substitution G A intron_variant BRCA-US 4 1719273 1719273 single base substitution G A synonymous_variant V270V 810C>T BRCA-US 4 1725222 1725222 single base substitution C T upstream_gene_variant BTCA-JP 4 1720819 1720819 single base substitution G A 3_prime_UTR_variant BTCA-JP 4 1720819 1720819 single base substitution G A intron_variant BTCA-JP 4 1720819 1720819 single base substitution G A upstream_gene_variant CESC-US 4 1719975 1719975 single base substitution C T downstream_gene_variant CESC-US 4 1719975 1719975 single base substitution C T missense_variant R195Q 584G>A CESC-US 4 1719975 1719975 single base substitution C T upstream_gene_variant CLLE-ES 4 1715085 1715085 single base substitution C A downstream_gene_variant CLLE-ES 4 1724855 1724855 single base substitution G A upstream_gene_variant CLLE-ES 4 1725411 1725411 single base substitution G A upstream_gene_variant COAD-US 4 1719052 1719052 single base substitution C T 3_prime_UTR_variant COAD-US 4 1719052 1719052 single base substitution C T downstream_gene_variant COAD-US 4 1719052 1719052 single base substitution C T exon_variant COAD-US 4 1719052 1719052 single base substitution C T missense_variant R315H 944G>A COAD-US 4 1719294 1719294 single base substitution T C 3_prime_UTR_variant COAD-US 4 1719294 1719294 single base substitution T C downstream_gene_variant COAD-US 4 1719294 1719294 single base substitution T C exon_variant COAD-US 4 1719294 1719294 single base substitution T C intron_variant COAD-US 4 1719294 1719294 single base substitution T C synonymous_variant T263T 789A>G COAD-US 4 1720258 1720258 single base substitution C T 3_prime_UTR_variant COAD-US 4 1720258 1720258 single base substitution C T missense_variant V101M 301G>A COAD-US 4 1720258 1720258 single base substitution C T upstream_gene_variant COAD-US 4 1720312 1720312 single base substitution G T 3_prime_UTR_variant COAD-US 4 1720312 1720312 single base substitution G T missense_variant L83I 247C>A COAD-US 4 1720312 1720312 single base substitution G T upstream_gene_variant COAD-US 4 1720313 1720313 single base substitution C T 3_prime_UTR_variant COAD-US 4 1720313 1720313 single base substitution C T synonymous_variant R82R 246G>A COAD-US 4 1720313 1720313 single base substitution C T upstream_gene_variant COAD-US 4 1720346 1720346 single base substitution A G 3_prime_UTR_variant COAD-US 4 1720346 1720346 single base substitution A G synonymous_variant Y71Y 213T>C COAD-US 4 1720346 1720346 single base substitution A G upstream_gene_variant COAD-US 4 1725257 1725257 single base substitution C T upstream_gene_variant COCA-CN 4 1720824 1720824 single base substitution A G 3_prime_UTR_variant COCA-CN 4 1720824 1720824 single base substitution A G intron_variant COCA-CN 4 1720824 1720824 single base substitution A G upstream_gene_variant COCA-CN 4 1725477 1725477 single base substitution G A upstream_gene_variant ESAD-UK 4 1714031 1714031 single base substitution G C downstream_gene_variant ESAD-UK 4 1714209 1714209 single base substitution G A downstream_gene_variant ESAD-UK 4 1718027 1718027 single base substitution C A 3_prime_UTR_variant ESAD-UK 4 1718027 1718027 single base substitution C A downstream_gene_variant ESAD-UK 4 1719937 1719937 single base substitution G A downstream_gene_variant ESAD-UK 4 1719937 1719937 single base substitution G A exon_variant ESAD-UK 4 1719937 1719937 single base substitution G A stop_gained Q208* 622C>T ESAD-UK 4 1719937 1719937 single base substitution G A upstream_gene_variant ESAD-UK 4 1723970 1723972 deletion of <=200bp CTG - upstream_gene_variant ESAD-UK 4 1725447 1725447 single base substitution C T upstream_gene_variant ESAD-UK 4 1727566 1727566 single base substitution C T upstream_gene_variant GBM-US 4 1725208 1725208 single base substitution C T upstream_gene_variant KIRC-US 4 1719303 1719303 single base substitution G C 3_prime_UTR_variant KIRC-US 4 1719303 1719303 single base substitution G C downstream_gene_variant KIRC-US 4 1719303 1719303 single base substitution G C exon_variant KIRC-US 4 1719303 1719303 single base substitution G C intron_variant KIRC-US 4 1719303 1719303 single base substitution G C missense_variant F260L 780C>G LGG-US 4 1722422 1722422 deletion of <=200bp A - exon_variant LGG-US 4 1722422 1722422 deletion of <=200bp A - frameshift_variant F48 LGG-US 4 1722422 1722422 deletion of <=200bp A - upstream_gene_variant LICA-CN 4 1725199 1725199 single base substitution A T upstream_gene_variant LICA-FR 4 1720163 1720163 single base substitution G T 3_prime_UTR_variant LICA-FR 4 1720163 1720163 single base substitution G T synonymous_variant A132A 396C>A LICA-FR 4 1720163 1720163 single base substitution G T upstream_gene_variant LICA-FR 4 1720352 1720352 single base substitution G T splice_region_variant LICA-FR 4 1720352 1720352 single base substitution G T upstream_gene_variant LIHC-US 4 1720290 1720298 deletion of <=200bp GGGGCCTGG - 3_prime_UTR_variant LIHC-US 4 1720290 1720298 deletion of <=200bp GGGGCCTGG - disruptive_inframe_deletion SQAP87S LIHC-US 4 1720290 1720298 deletion of <=200bp GGGGCCTGG - upstream_gene_variant LINC-JP 4 1720087 1720087 single base substitution C A downstream_gene_variant LINC-JP 4 1720087 1720087 single base substitution C A missense_variant G158C 472G>T LINC-JP 4 1720087 1720087 single base substitution C A upstream_gene_variant LINC-JP 4 1724034 1724034 single base substitution T G upstream_gene_variant LIRI-JP 4 1713465 1713465 single base substitution G C downstream_gene_variant LIRI-JP 4 1716853 1716853 single base substitution A G downstream_gene_variant LIRI-JP 4 1717370 1717370 single base substitution T G downstream_gene_variant LIRI-JP 4 1717568 1717568 single base substitution A G downstream_gene_variant LIRI-JP 4 1718087 1718087 single base substitution G T 3_prime_UTR_variant LIRI-JP 4 1718087 1718087 single base substitution G T downstream_gene_variant LIRI-JP 4 1720072 1720072 single base substitution G T downstream_gene_variant LIRI-JP 4 1720072 1720072 single base substitution G T missense_variant R163S 487C>A LIRI-JP 4 1720072 1720072 single base substitution G T upstream_gene_variant LIRI-JP 4 1725305 1725305 single base substitution A G upstream_gene_variant LIRI-JP 4 1725965 1725965 single base substitution C T upstream_gene_variant LUSC-KR 4 1721179 1721179 single base substitution G A intron_variant LUSC-KR 4 1721179 1721179 single base substitution G A upstream_gene_variant LUSC-KR 4 1726133 1726133 single base substitution C T upstream_gene_variant MALY-DE 4 1715510 1715510 single base substitution C A downstream_gene_variant MALY-DE 4 1715536 1715536 single base substitution T G downstream_gene_variant MALY-DE 4 1717053 1717053 single base substitution A G downstream_gene_variant MALY-DE 4 1718132 1718132 single base substitution A G 3_prime_UTR_variant MALY-DE 4 1718132 1718132 single base substitution A G downstream_gene_variant MALY-DE 4 1721320 1721320 single base substitution T G intron_variant MALY-DE 4 1721320 1721320 single base substitution T G upstream_gene_variant MALY-DE 4 1722380 1722380 single base substitution C G exon_variant MALY-DE 4 1722380 1722380 single base substitution C G missense_variant C62S 185G>C MALY-DE 4 1722380 1722380 single base substitution C G upstream_gene_variant MELA-AU 4 1713051 1713051 single base substitution G A downstream_gene_variant MELA-AU 4 1713318 1713318 single base substitution G A downstream_gene_variant MELA-AU 4 1713399 1713399 single base substitution G C downstream_gene_variant MELA-AU 4 1713804 1713804 single base substitution C G downstream_gene_variant MELA-AU 4 1714052 1714052 deletion of <=200bp C - downstream_gene_variant MELA-AU 4 1714571 1714571 single base substitution G A downstream_gene_variant MELA-AU 4 1717015 1717015 single base substitution G A downstream_gene_variant MELA-AU 4 1717833 1717833 single base substitution C T 3_prime_UTR_variant MELA-AU 4 1717833 1717833 single base substitution C T downstream_gene_variant MELA-AU 4 1718030 1718030 single base substitution C T 3_prime_UTR_variant MELA-AU 4 1718030 1718030 single base substitution C T downstream_gene_variant MELA-AU 4 1718033 1718033 single base substitution C T 3_prime_UTR_variant MELA-AU 4 1718033 1718033 single base substitution C T downstream_gene_variant MELA-AU 4 1719569 1719569 single base substitution G A downstream_gene_variant MELA-AU 4 1719569 1719569 single base substitution G A exon_variant MELA-AU 4 1719569 1719569 single base substitution G A intron_variant MELA-AU 4 1720353 1720353 single base substitution C T missense_variant G69D 206G>A MELA-AU 4 1720353 1720353 single base substitution C T splice_region_variant MELA-AU 4 1720353 1720353 single base substitution C T upstream_gene_variant MELA-AU 4 1723177 1723177 single base substitution C T upstream_gene_variant MELA-AU 4 1723441 1723441 single base substitution C T upstream_gene_variant MELA-AU 4 1723586 1723586 single base substitution T C upstream_gene_variant MELA-AU 4 1723768 1723768 single base substitution C T upstream_gene_variant MELA-AU 4 1724036 1724036 single base substitution C T upstream_gene_variant MELA-AU 4 1724127 1724127 single base substitution C T upstream_gene_variant MELA-AU 4 1724674 1724674 single base substitution C T upstream_gene_variant MELA-AU 4 1724735 1724735 single base substitution A G upstream_gene_variant MELA-AU 4 1725025 1725025 single base substitution C T upstream_gene_variant MELA-AU 4 1725222 1725222 single base substitution C T upstream_gene_variant MELA-AU 4 1725552 1725552 single base substitution C T upstream_gene_variant MELA-AU 4 1725644 1725644 single base substitution C T upstream_gene_variant MELA-AU 4 1725788 1725788 single base substitution C T upstream_gene_variant MELA-AU 4 1726017 1726017 single base substitution C T upstream_gene_variant MELA-AU 4 1726375 1726375 single base substitution C T upstream_gene_variant MELA-AU 4 1726757 1726757 single base substitution C T upstream_gene_variant MELA-AU 4 1727862 1727862 single base substitution T A upstream_gene_variant OV-AU 4 1712748 1712748 single base substitution A T downstream_gene_variant OV-AU 4 1723136 1723136 single base substitution C T upstream_gene_variant OV-AU 4 1723388 1723388 single base substitution C G upstream_gene_variant PACA-AU 4 1721398 1721398 single base substitution C T intron_variant PACA-AU 4 1721398 1721398 single base substitution C T upstream_gene_variant PACA-AU 4 1722365 1722365 single base substitution G A exon_variant PACA-AU 4 1722365 1722365 single base substitution G A missense_variant P67L 200C>T PACA-AU 4 1722365 1722365 single base substitution G A upstream_gene_variant PACA-CA 4 1714657 1714657 single base substitution T G downstream_gene_variant PACA-CA 4 1714915 1714915 single base substitution G A downstream_gene_variant PACA-CA 4 1720504 1720505 deletion of <=200bp CT - 3_prime_UTR_variant PACA-CA 4 1720504 1720505 deletion of <=200bp CT - intron_variant PACA-CA 4 1720504 1720505 deletion of <=200bp CT - upstream_gene_variant PACA-CA 4 1720675 1720675 insertion of <=200bp - GT intron_variant PACA-CA 4 1720675 1720675 insertion of <=200bp - GT upstream_gene_variant PACA-CA 4 1721339 1721339 single base substitution G C intron_variant PACA-CA 4 1721339 1721339 single base substitution G C upstream_gene_variant PAEN-AU 4 1718467 1718467 single base substitution G A 3_prime_UTR_variant PAEN-AU 4 1718467 1718467 single base substitution G A downstream_gene_variant PAEN-AU 4 1718602 1718602 single base substitution G C 3_prime_UTR_variant PAEN-AU 4 1718602 1718602 single base substitution G C downstream_gene_variant PAEN-AU 4 1718602 1718602 single base substitution G C exon_variant PBCA-DE 4 1727612 1727612 single base substitution C G upstream_gene_variant PRAD-CA 4 1721348 1721348 single base substitution G A intron_variant PRAD-CA 4 1721348 1721348 single base substitution G A upstream_gene_variant PRAD-UK 4 1713748 1713748 single base substitution G C downstream_gene_variant PRAD-UK 4 1727276 1727276 single base substitution C A upstream_gene_variant READ-US 4 1718992 1718992 single base substitution C T 3_prime_UTR_variant READ-US 4 1718992 1718992 single base substitution C T downstream_gene_variant READ-US 4 1718992 1718992 single base substitution C T exon_variant READ-US 4 1718992 1718992 single base substitution C T missense_variant R335H 1004G>A RECA-EU 4 1719778 1719778 single base substitution C A downstream_gene_variant RECA-EU 4 1719778 1719778 single base substitution C A intron_variant RECA-EU 4 1719778 1719778 single base substitution C A upstream_gene_variant RECA-EU 4 1724490 1724490 single base substitution G A upstream_gene_variant RECA-EU 4 1725646 1725646 single base substitution G T upstream_gene_variant SKCA-BR 4 1713787 1713787 single base substitution A C downstream_gene_variant SKCA-BR 4 1713803 1713803 single base substitution A C downstream_gene_variant SKCA-BR 4 1714946 1714946 single base substitution T C downstream_gene_variant SKCA-BR 4 1715401 1715401 single base substitution A G downstream_gene_variant SKCA-BR 4 1716268 1716268 single base substitution C A downstream_gene_variant SKCA-BR 4 1716313 1716313 single base substitution T C downstream_gene_variant SKCA-BR 4 1716331 1716331 single base substitution A C downstream_gene_variant SKCA-BR 4 1720490 1720490 single base substitution T C 3_prime_UTR_variant SKCA-BR 4 1720490 1720490 single base substitution T C intron_variant SKCA-BR 4 1720490 1720490 single base substitution T C upstream_gene_variant SKCA-BR 4 1720793 1720793 insertion of <=200bp - AG 3_prime_UTR_variant SKCA-BR 4 1720793 1720793 insertion of <=200bp - AG intron_variant SKCA-BR 4 1720793 1720793 insertion of <=200bp - AG upstream_gene_variant SKCA-BR 4 1721179 1721179 single base substitution G A intron_variant SKCA-BR 4 1721179 1721179 single base substitution G A upstream_gene_variant SKCA-BR 4 1721496 1721496 single base substitution C T intron_variant SKCA-BR 4 1721496 1721496 single base substitution C T upstream_gene_variant SKCA-BR 4 1722667 1722667 single base substitution G C 5_prime_UTR_variant SKCA-BR 4 1722667 1722667 single base substitution G C upstream_gene_variant SKCA-BR 4 1722949 1722949 single base substitution A G 5_prime_UTR_variant SKCA-BR 4 1722949 1722949 single base substitution A G upstream_gene_variant SKCA-BR 4 1726265 1726265 single base substitution C T upstream_gene_variant SKCA-BR 4 1726367 1726367 single base substitution T A upstream_gene_variant SKCM-US 4 1725500 1725500 single base substitution C T upstream_gene_variant STAD-US 4 1720065 1720065 single base substitution A G downstream_gene_variant STAD-US 4 1720065 1720065 single base substitution A G missense_variant I165T 494T>C STAD-US 4 1720065 1720065 single base substitution A G upstream_gene_variant STAD-US 4 1725278 1725278 single base substitution G T upstream_gene_variant THCA-SA 4 1719294 1719294 single base substitution T C 3_prime_UTR_variant THCA-SA 4 1719294 1719294 single base substitution T C downstream_gene_variant THCA-SA 4 1719294 1719294 single base substitution T C exon_variant THCA-SA 4 1719294 1719294 single base substitution T C intron_variant THCA-SA 4 1719294 1719294 single base substitution T C synonymous_variant T263T 789A>G UCEC-US 4 1719965 1719965 single base substitution C T downstream_gene_variant UCEC-US 4 1719965 1719965 single base substitution C T synonymous_variant E198E 594G>A UCEC-US 4 1719965 1719965 single base substitution C T upstream_gene_variant UCEC-US 4 1725222 1725222 single base substitution C T upstream_gene_variant UCEC-US 4 1725498 1725498 single base substitution T G upstream_gene_variant

Mutation - COSMIC Sample Name Mutation ID Mutation CDS Mutation AA Mutation Description Mutation Genome Position Mutation Strand MO_1014 COSM5569384 c.575C>A p.T192K Substitution - Missense 4:1718257-1718257 - PTC-515C COSM4158908 c.272A>G p.E91G Substitution - Missense 4:1718560-1718560 - DLD1 COSM4625261 c.346C>A p.R116S Substitution - Missense 4:1718486-1718486 - 417 COSM4431723 c.144C>T p.F48F Substitution - coding silent 4:1720694-1720694 - PD23577a COSM5795949 c.645C>T p.A215A Substitution - coding silent 4:1718187-1718187 - DLD1 COSM4625262 c.346C>A p.R116S Substitution - Missense 4:1718486-1718486 - TCGA-EA-A5O9-01 COSM4851943 c.584G>A p.R195Q Substitution - Missense 4:1718248-1718248 - 8068539 COSM4406606 c.200C>T p.P67L Substitution - Missense 4:1720638-1720638 - CHC1055T COSM3669266 c.396C>A p.A132A Substitution - coding silent 4:1718436-1718436 - TCGA-AM-5821-01 COSM3760481 c.213T>C p.Y71Y Substitution - coding silent 4:1718619-1718619 - CHC2039Tbis COSM4788175 c.207C>A p.G69G Substitution - coding silent 4:1718625-1718625 - TCGA-G4-6321-01 COSM3760482 c.213T>C p.Y71Y Substitution - coding silent 4:1718619-1718619 - 417 COSM4431722 c.144C>T p.F48F Substitution - coding silent 4:1720694-1720694 - T3658 COSM4734230 c.391T>C p.Y131H Substitution - Missense 4:1718441-1718441 - HCT15 COSM4625262 c.346C>A p.R116S Substitution - Missense 4:1718486-1718486 - MO_1014 COSM5569385 c.575C>A p.T192K Substitution - Missense 4:1718257-1718257 - HCC2T COSM3336600 c.472G>T p.G158C Substitution - Missense 4:1718360-1718360 - CHC1055T COSM3669265 c.396C>A p.A132A Substitution - coding silent 4:1718436-1718436 - ESCC_11 COSM3336604 c.448C>T p.R150W Substitution - Missense 4:1718384-1718384 - PTC-515C COSM4158907 c.272A>G p.E91G Substitution - Missense 4:1718560-1718560 - ESCC_11 COSM3336603 c.448C>T p.R150W Substitution - Missense 4:1718384-1718384 - PTC-515C COSM4158909 c.270T>A p.P90P Substitution - coding silent 4:1718562-1718562 - HCC2 COSM3336599 c.472G>T p.G158C Substitution - Missense 4:1718360-1718360 - T3658 COSM4734231 c.391T>C p.Y131H Substitution - Missense 4:1718441-1718441 - CHC205T COSM3760481 c.213T>C p.Y71Y Substitution - coding silent 4:1718619-1718619 - PTC-515C COSM4158911 c.268C>T p.P90S Substitution - Missense 4:1718564-1718564 - TCGA-BH-A18V-06 COSM3825535 c.810C>T p.V270V Substitution - coding silent 4:1717546-1717546 - 2318491 COSM4776679 c.314C>A p.S105Y Substitution - Missense 4:1718518-1718518 - 8068539 COSM4406607 c.200C>T p.P67L Substitution - Missense 4:1720638-1720638 - TCGA-BR-4280-01 COSM4123447 c.494T>C p.I165T Substitution - Missense 4:1718338-1718338 - PTC-515C COSM4158910 c.270T>A p.P90P Substitution - coding silent 4:1718562-1718562 - tumor_4131095 COSM5948713 c.185G>C p.C62S Substitution - Missense 4:1720653-1720653 - TCGA-D1-A17Q-01 COSM1594399 c.594G>A p.E198E Substitution - coding silent 4:1718238-1718238 - CHC2039Tbis COSM4788176 c.207C>A p.G69G Substitution - coding silent 4:1718625-1718625 - SC_9100 COSM5570835 c.49G>A p.V17M Substitution - Missense 4:1720789-1720789 - HCC2 COSM3336600 c.472G>T p.G158C Substitution - Missense 4:1718360-1718360 - TCGA-CM-4743-01 COSM4786814 c.246G>A p.R82R Substitution - coding silent 4:1718586-1718586 - tumor_4131095 COSM5948712 c.185G>C p.C62S Substitution - Missense 4:1720653-1720653 - TCGA-CM-4743-01 COSM1428434 c.246G>A p.R82R Substitution - coding silent 4:1718586-1718586 - SJHGG081_D COSM4971483 c.583C>T p.R195W Substitution - Missense 4:1718249-1718249 - 2318491 COSM4776678 c.314C>A p.S105Y Substitution - Missense 4:1718518-1718518 - TCGA-AM-5820-01 COSM3760478 c.789A>G p.T263T Substitution - coding silent 4:1717567-1717567 - PD23577a COSM5795950 c.645C>T p.A215A Substitution - coding silent 4:1718187-1718187 - TCGA-AM-5821-01 COSM3760482 c.213T>C p.Y71Y Substitution - coding silent 4:1718619-1718619 - TCGA-D1-A17Q-01 COSM1053216 c.594G>A p.E198E Substitution - coding silent 4:1718238-1718238 - CHC205T COSM3760482 c.213T>C p.Y71Y Substitution - coding silent 4:1718619-1718619 - RK022_C01 COSM1633559 c.487C>A p.R163S Substitution - Missense 4:1718345-1718345 - TCGA-G4-6321-01 COSM3760481 c.213T>C p.Y71Y Substitution - coding silent 4:1718619-1718619 - TCGA-BR-4280-01 COSM4123446 c.494T>C p.I165T Substitution - Missense 4:1718338-1718338 - CHC2039Tbis COSM4788175 c.207C>A p.G69G Substitution - coding silent 4:1718625-1718625 - 2492728 COSM5725667 c.738G>A p.R246R Substitution - coding silent 4:1717618-1717618 - TCGA-CM-6674-01 COSM1428432 c.944G>A p.R315H Substitution - Missense 4:1717325-1717325 - SC_9100 COSM5570836 c.49G>A p.V17M Substitution - Missense 4:1720789-1720789 - TCGA-AZ-4615-01 COSM3760480 c.247C>A p.L83I Substitution - Missense 4:1718585-1718585 - TCGA-F5-6814-01 COSM3428335 c.1004G>A p.R335H Substitution - Missense 4:1717265-1717265 - T3503 COSM3336595 c.541G>A p.V181M Substitution - Missense 4:1718291-1718291 - HCT15 COSM4625261 c.346C>A p.R116S Substitution - Missense 4:1718486-1718486 - CHC1055T COSM3669266 c.396C>A p.A132A Substitution - coding silent 4:1718436-1718436 - TCGA-AD-6895-01 COSM4783160 c.301G>A p.V101M Substitution - Missense 4:1718531-1718531 - TCGA-CJ-4634-01 COSM3365553 c.780C>G p.F260L Substitution - Missense 4:1717576-1717576 - TCGA-AZ-4615-01 COSM3760482 c.213T>C p.Y71Y Substitution - coding silent 4:1718619-1718619 - TCGA-AZ-4615-01 COSM3760479 c.247C>A p.L83I Substitution - Missense 4:1718585-1718585 - HCC2T COSM3336599 c.472G>T p.G158C Substitution - Missense 4:1718360-1718360 - SJHGG081_D COSM4971484 c.583C>T p.R195W Substitution - Missense 4:1718249-1718249 - 2334199 COSM323860 c.488G>C p.R163P Substitution - Missense 4:1718344-1718344 - TCGA-AZ-4615-01 COSM3760481 c.213T>C p.Y71Y Substitution - coding silent 4:1718619-1718619 - ESCC_125 COSM5115174 c.699C>T p.Y233Y Substitution - coding silent 4:1717657-1717657 - T3503 COSM3336596 c.541G>A p.V181M Substitution - Missense 4:1718291-1718291 - TCGA-AD-6895-01 COSM1428433 c.301G>A p.V101M Substitution - Missense 4:1718531-1718531 - CHC1055T COSM3669265 c.396C>A p.A132A Substitution - coding silent 4:1718436-1718436 - TCGA-EA-A5O9-01 COSM4851942 c.584G>A p.R195Q Substitution - Missense 4:1718248-1718248 - RK022_C01 COSM1633560 c.487C>A p.R163S Substitution - Missense 4:1718345-1718345 - 2492729 COSM5725795 c.1006C>T p.P336S Substitution - Missense 4:1717263-1717263 - PTC-515C COSM4158912 c.268C>T p.P90S Substitution - Missense 4:1718564-1718564 - 2492729 COSM5725667 c.738G>A p.R246R Substitution - coding silent 4:1717618-1717618 - CHC2039Tbis COSM4788176 c.207C>A p.G69G Substitution - coding silent 4:1718625-1718625 -

Mutation - CGAP UNIGENE CYTOBAND OMIM SNP Hs.518562 4p16.3

Mutation - IntOGen Mutated from(ref) Mutated to(alt) Consequence Type AA Mutation CDS Mutation Chr Pos Cancer A G Missense p.I165T c.494T>C 4 1720065 STAD C G Missense p.R163P c.488G>C 4 1720071 SCLC G C Missense p.F260L c.780C>G 4 1719303 RCCC G T Missense p.R163S c.487C>A 4 1720072 HC