Mutation - TCGA Type Chromosome Start Position End Position Strand Variant Classification Variant Type Reference Allele Tumor_seq Allele 1 Tumor_seq Allele 2 Tumor Sample Barcode Matched Norm Sample Barcode Genome Change cDNA Change Codon Change Protein Change BLCA 1 161127972 161127972 + Missense_Mutation SNP T T A TCGA-4Z-AA7S-01A-11D-A391-08 TCGA-4Z-AA7S-10A-01D-A394-08 g.chr1:161127972T>A c.394T>A c.(394-396)Ttt>Att p.F132I BLCA 1 161128200 161128200 + Splice_Site SNP A A T TCGA-DK-AA6R-01A-11D-A42E-08 TCGA-DK-AA6R-10A-01D-A42H-08 g.chr1:161128200A>T c.e6-1 BLCA 1 161128267 161128267 + Missense_Mutation SNP G G T TCGA-DK-A6AW-01A-11D-A30E-08 TCGA-DK-A6AW-10A-01D-A30H-08 g.chr1:161128267G>T c.489G>T c.(487-489)gaG>gaT p.E163D BRCA 1 161127913 161127913 + Missense_Mutation SNP G G C TCGA-BH-A0E1-01A-11W-A071-09 TCGA-BH-A0E1-10A-01W-A071-09 g.chr1:161127913G>C c.335G>C c.(334-336)gGt>gCt p.G112A CESC 1 161128205 161128205 + Missense_Mutation SNP G G A TCGA-C5-A1MF-01A-11D-A13W-08 TCGA-C5-A1MF-10A-01D-A13W-08 g.chr1:161128205G>A c.427G>A c.(427-429)Ggt>Agt p.G143S CHOL 1 161123896 161123896 + Nonsense_Mutation SNP C C T TCGA-ZH-A8Y6-01A-11D-A417-09 TCGA-ZH-A8Y6-10A-01D-A41A-09 g.chr1:161123896C>T c.109C>T c.(109-111)Cag>Tag p.Q37* COAD 1 161127443 161127443 + Missense_Mutation SNP G G A TCGA-AD-6889-01A-11D-1924-10 TCGA-AD-6889-10A-01D-1924-10 g.chr1:161127443G>A c.292G>A c.(292-294)Gca>Aca p.A98T COAD 1 161128254 161128254 + Missense_Mutation SNP T T C TCGA-CM-5868-01A-01D-1650-10 TCGA-CM-5868-10A-01D-1650-10 g.chr1:161128254T>C c.476T>C c.(475-477)aTc>aCc p.I159T COADREAD 1 161127443 161127443 + Missense_Mutation SNP G G A TCGA-AD-6889-01A-11D-1924-10 TCGA-AD-6889-10A-01D-1924-10 g.chr1:161127443G>A c.292G>A c.(292-294)Gca>Aca p.A98T COADREAD 1 161128254 161128254 + Missense_Mutation SNP T T C TCGA-CM-5868-01A-01D-1650-10 TCGA-CM-5868-10A-01D-1650-10 g.chr1:161128254T>C c.476T>C c.(475-477)aTc>aCc p.I159T DLBC 1 161123901 161123901 + Silent SNP C C G TCGA-G8-6909-01A-11D-2210-10 TCGA-G8-6909-14A-01D-2210-10 g.chr1:161123901C>G c.114C>G c.(112-114)tcC>tcG p.S38S ESCA 1 161123890 161123890 + Nonsense_Mutation SNP G G T TCGA-IG-A8O2-01A-11D-A36J-09 TCGA-IG-A8O2-10A-01D-A36M-09 g.chr1:161123890G>T c.103G>T c.(103-105)Gaa>Taa p.E35* LUAD 1 161123809 161123809 + Missense_Mutation SNP C C T TCGA-35-4123-01A-01D-1105-08 TCGA-35-4123-10A-01D-1105-08 g.chr1:161123809C>T c.22C>T c.(22-24)Cgt>Tgt p.R8C LUAD 1 161123883 161123883 + Silent SNP G G A TCGA-53-7624-01A-11D-2063-08 TCGA-53-7624-10A-01D-2063-08 g.chr1:161123883G>A c.96G>A c.(94-96)ctG>ctA p.L32L LUAD 1 161127458 161127458 + Missense_Mutation SNP G G T TCGA-50-5930-01A-11D-1753-08 TCGA-50-5930-11A-01D-1753-08 g.chr1:161127458G>T c.307G>T c.(307-309)Gat>Tat p.D103Y LUSC 1 161127061 161127061 + Missense_Mutation SNP G G T TCGA-18-3409-01A-01D-0983-08 TCGA-18-3409-11A-01D-0983-08 g.chr1:161127061G>T c.209G>T c.(208-210)tGg>tTg p.W70L OV 1 161127060 161127060 + Missense_Mutation SNP T T G TCGA-59-2372-01A-01D-1526-09 TCGA-59-2372-10A-01D-1526-09 g.chr1:161127060T>G c.208T>G c.(208-210)Tgg>Ggg p.W70G PAAD 1 161123792 161123792 + Missense_Mutation SNP C C T TCGA-IB-7651-01A-11D-2154-08 TCGA-IB-7651-10A-01D-2154-08 g.chr1:161123792C>T c.5C>T c.(4-6)gCg>gTg p.A2V SKCM 1 161127057 161127057 + Missense_Mutation SNP T T A TCGA-D3-A51R-06A-11D-A25O-08 TCGA-D3-A51R-10A-01D-A25O-08 g.chr1:161127057T>A c.205T>A c.(205-207)Tgc>Agc p.C69S SKCM 1 161127075 161127075 + Missense_Mutation SNP C C T TCGA-D3-A51R-06A-11D-A25O-08 TCGA-D3-A51R-10A-01D-A25O-08 g.chr1:161127075C>T c.223C>T c.(223-225)Ctc>Ttc p.L75F SKCM 1 161128000 161128000 + Splice_Site SNP G G T TCGA-EE-A180-06A-11D-A21A-08 TCGA-EE-A180-10B-01D-A21A-08 g.chr1:161128000G>T c.422G>T c.(421-423)gGg>gTg p.G141V

Mutation - ICGC Project Code Chromosome Chromosome Start Chromosome End Mutation Type Mutated from Allele Mutated to Allele Consequence Type AA Mutation CDS Mutation BLCA-CN 1 161130608 161130608 single base substitution G A downstream_gene_variant BLCA-CN 1 161131019 161131019 single base substitution G C downstream_gene_variant BLCA-CN 1 161132126 161132126 single base substitution A T downstream_gene_variant BLCA-US 1 161130596 161130596 single base substitution C T downstream_gene_variant BLCA-US 1 161130796 161130796 single base substitution G A downstream_gene_variant BLCA-US 1 161132715 161132715 single base substitution G A downstream_gene_variant BRCA-EU 1 161117703 161117703 single base substitution G T upstream_gene_variant BRCA-EU 1 161121670 161121670 single base substitution G C upstream_gene_variant BRCA-EU 1 161121771 161121810 deletion of <=200bp TCACTGCACTCTAGCCTGGGTGACAGAGTGAGACTCTGTC - upstream_gene_variant BRCA-EU 1 161121812 161121812 single base substitution C G upstream_gene_variant BRCA-EU 1 161122201 161122201 single base substitution G A upstream_gene_variant BRCA-EU 1 161122473 161122473 single base substitution C G upstream_gene_variant BRCA-EU 1 161122620 161122620 single base substitution C T exon_variant BRCA-EU 1 161122620 161122620 single base substitution C T upstream_gene_variant BRCA-EU 1 161122965 161122965 single base substitution G C intron_variant BRCA-EU 1 161122965 161122965 single base substitution G C upstream_gene_variant BRCA-EU 1 161123754 161123754 single base substitution C G 5_prime_UTR_variant BRCA-EU 1 161123754 161123754 single base substitution C G exon_variant BRCA-EU 1 161123754 161123754 single base substitution C G upstream_gene_variant BRCA-EU 1 161123847 161123847 single base substitution C G exon_variant BRCA-EU 1 161123847 161123847 single base substitution C G synonymous_variant A20A 60C>G BRCA-EU 1 161124454 161124454 single base substitution C T intron_variant BRCA-EU 1 161124467 161124467 single base substitution G A intron_variant BRCA-EU 1 161124610 161124610 single base substitution C G intron_variant BRCA-EU 1 161124962 161124962 single base substitution G C intron_variant BRCA-EU 1 161124991 161124991 single base substitution G T intron_variant BRCA-EU 1 161126063 161126063 single base substitution C G intron_variant BRCA-EU 1 161126939 161126939 single base substitution C A exon_variant BRCA-EU 1 161126939 161126939 single base substitution C A intron_variant BRCA-EU 1 161127108 161127108 single base substitution G A exon_variant BRCA-EU 1 161127108 161127108 single base substitution G A splice_donor_variant BRCA-EU 1 161128809 161128809 single base substitution T A downstream_gene_variant BRCA-EU 1 161128906 161128906 single base substitution T C downstream_gene_variant BRCA-EU 1 161129239 161129239 single base substitution A T downstream_gene_variant BRCA-EU 1 161129658 161129658 single base substitution C G downstream_gene_variant BRCA-EU 1 161130073 161130073 single base substitution C G downstream_gene_variant BRCA-EU 1 161130348 161130349 deletion of <=200bp AC - downstream_gene_variant BRCA-EU 1 161131262 161131262 single base substitution C T downstream_gene_variant BRCA-EU 1 161132886 161132886 single base substitution T C downstream_gene_variant BRCA-EU 1 161132946 161132946 single base substitution G A downstream_gene_variant BRCA-FR 1 161122201 161122201 single base substitution G A upstream_gene_variant BRCA-FR 1 161124454 161124454 single base substitution C T intron_variant BRCA-FR 1 161127392 161127392 single base substitution T G downstream_gene_variant BRCA-FR 1 161127392 161127392 single base substitution T G intron_variant BRCA-US 1 161127913 161127913 single base substitution G C downstream_gene_variant BRCA-US 1 161127913 161127913 single base substitution G C exon_variant BRCA-US 1 161127913 161127913 single base substitution G C intron_variant BRCA-US 1 161127913 161127913 single base substitution G C missense_variant G112A 335G>C BRCA-US 1 161127913 161127913 single base substitution G C splice_region_variant BRCA-US 1 161131732 161131732 single base substitution C T downstream_gene_variant BRCA-US 1 161132413 161132413 single base substitution G C downstream_gene_variant BRCA-US 1 161132851 161132851 single base substitution G T downstream_gene_variant BRCA-US 1 161133349 161133349 single base substitution G T downstream_gene_variant BRCA-US 1 161133388 161133388 single base substitution C T downstream_gene_variant BTCA-JP 1 161126918 161126918 single base substitution C T exon_variant BTCA-JP 1 161126918 161126918 single base substitution C T intron_variant BTCA-JP 1 161127320 161127320 single base substitution C T downstream_gene_variant BTCA-JP 1 161127320 161127320 single base substitution C T intron_variant BTCA-JP 1 161128022 161128022 single base substitution A C downstream_gene_variant BTCA-JP 1 161128022 161128022 single base substitution A C exon_variant BTCA-JP 1 161128022 161128022 single base substitution A C intron_variant BTCA-JP 1 161130639 161130639 single base substitution G A downstream_gene_variant BTCA-JP 1 161130906 161130906 single base substitution G A downstream_gene_variant BTCA-JP 1 161131811 161131811 single base substitution G C downstream_gene_variant BTCA-JP 1 161132087 161132087 single base substitution C G downstream_gene_variant CESC-US 1 161128205 161128205 single base substitution G A downstream_gene_variant CESC-US 1 161128205 161128205 single base substitution G A exon_variant CESC-US 1 161128205 161128205 single base substitution G A missense_variant G143S 427G>A CESC-US 1 161131810 161131810 single base substitution T G downstream_gene_variant CESC-US 1 161133352 161133352 single base substitution G A downstream_gene_variant CLLE-ES 1 161123937 161123937 single base substitution C T intron_variant COAD-US 1 161127443 161127443 single base substitution G A downstream_gene_variant COAD-US 1 161127443 161127443 single base substitution G A exon_variant COAD-US 1 161127443 161127443 single base substitution G A missense_variant A98T 292G>A COAD-US 1 161130594 161130594 single base substitution G A downstream_gene_variant COAD-US 1 161130716 161130716 single base substitution C A downstream_gene_variant COAD-US 1 161130857 161130857 single base substitution G A downstream_gene_variant COAD-US 1 161130861 161130861 single base substitution T A downstream_gene_variant COAD-US 1 161133353 161133353 single base substitution A G downstream_gene_variant COCA-CN 1 161127538 161127538 single base substitution C T downstream_gene_variant COCA-CN 1 161127538 161127538 single base substitution C T exon_variant COCA-CN 1 161127538 161127538 single base substitution C T intron_variant COCA-CN 1 161130660 161130660 single base substitution G A downstream_gene_variant COCA-CN 1 161130681 161130681 single base substitution C T downstream_gene_variant COCA-CN 1 161130889 161130889 single base substitution T C downstream_gene_variant COCA-CN 1 161132345 161132345 single base substitution T G downstream_gene_variant ESAD-UK 1 161118939 161118939 single base substitution G A upstream_gene_variant ESAD-UK 1 161119012 161119012 single base substitution A G upstream_gene_variant ESAD-UK 1 161119334 161119334 single base substitution G T upstream_gene_variant ESAD-UK 1 161119341 161119341 single base substitution G A upstream_gene_variant ESAD-UK 1 161119697 161119698 deletion of <=200bp TC - upstream_gene_variant ESAD-UK 1 161121711 161121711 single base substitution G C upstream_gene_variant ESAD-UK 1 161121761 161121761 single base substitution C A upstream_gene_variant ESAD-UK 1 161124536 161124536 single base substitution C T intron_variant ESAD-UK 1 161124837 161124837 single base substitution G T intron_variant ESAD-UK 1 161126821 161126821 single base substitution C T exon_variant ESAD-UK 1 161126821 161126821 single base substitution C T intron_variant ESAD-UK 1 161126991 161126991 single base substitution T A exon_variant ESAD-UK 1 161126991 161126991 single base substitution T A intron_variant ESAD-UK 1 161127226 161127226 single base substitution C T downstream_gene_variant ESAD-UK 1 161127226 161127226 single base substitution C T exon_variant ESAD-UK 1 161127226 161127226 single base substitution C T intron_variant ESAD-UK 1 161128994 161128994 single base substitution T G downstream_gene_variant ESAD-UK 1 161129391 161129391 single base substitution G A downstream_gene_variant ESAD-UK 1 161130967 161130967 single base substitution C T downstream_gene_variant ESAD-UK 1 161131037 161131037 single base substitution A G downstream_gene_variant ESAD-UK 1 161131214 161131214 single base substitution G T downstream_gene_variant ESAD-UK 1 161131976 161131976 single base substitution G A downstream_gene_variant ESAD-UK 1 161132449 161132449 single base substitution G A downstream_gene_variant ESAD-UK 1 161133376 161133376 single base substitution C T downstream_gene_variant LAML-KR 1 161129500 161129500 single base substitution T G downstream_gene_variant LGG-US 1 161132502 161132504 deletion of <=200bp CTT - downstream_gene_variant LICA-CN 1 161130952 161130952 single base substitution A T downstream_gene_variant LICA-FR 1 161128229 161128229 single base substitution C T downstream_gene_variant LICA-FR 1 161128229 161128229 single base substitution C T exon_variant LICA-FR 1 161128229 161128229 single base substitution C T missense_variant P151S 451C>T LICA-FR 1 161130992 161130992 single base substitution G A downstream_gene_variant LIHC-US 1 161132173 161132173 single base substitution C T downstream_gene_variant LINC-JP 1 161123753 161123753 single base substitution A G 5_prime_UTR_variant LINC-JP 1 161123753 161123753 single base substitution A G exon_variant LINC-JP 1 161123753 161123753 single base substitution A G upstream_gene_variant LIRI-JP 1 161119960 161119960 single base substitution C G upstream_gene_variant LIRI-JP 1 161120197 161120197 single base substitution A G upstream_gene_variant LIRI-JP 1 161121823 161121823 single base substitution C A upstream_gene_variant LIRI-JP 1 161121966 161121966 single base substitution A G upstream_gene_variant LIRI-JP 1 161122215 161122215 single base substitution T C upstream_gene_variant LIRI-JP 1 161122578 161122578 single base substitution C T exon_variant LIRI-JP 1 161122578 161122578 single base substitution C T upstream_gene_variant LIRI-JP 1 161128210 161128210 single base substitution A G downstream_gene_variant LIRI-JP 1 161128210 161128210 single base substitution A G exon_variant LIRI-JP 1 161128210 161128210 single base substitution A G synonymous_variant P144P 432A>G LIRI-JP 1 161128513 161128513 single base substitution C G 3_prime_UTR_variant LIRI-JP 1 161128513 161128513 single base substitution C G downstream_gene_variant LIRI-JP 1 161128802 161128802 single base substitution T C downstream_gene_variant LIRI-JP 1 161128935 161128935 single base substitution T A downstream_gene_variant LIRI-JP 1 161129280 161129280 insertion of <=200bp - GCCGGTG downstream_gene_variant LIRI-JP 1 161131916 161131916 single base substitution C A downstream_gene_variant LUSC-KR 1 161118512 161118512 single base substitution C G upstream_gene_variant LUSC-KR 1 161119374 161119374 single base substitution G C upstream_gene_variant LUSC-KR 1 161120910 161120910 single base substitution G A upstream_gene_variant LUSC-KR 1 161126975 161126975 single base substitution C G exon_variant LUSC-KR 1 161126975 161126975 single base substitution C G intron_variant LUSC-KR 1 161128659 161128659 single base substitution C G downstream_gene_variant LUSC-KR 1 161128808 161128808 single base substitution C A downstream_gene_variant LUSC-KR 1 161130862 161130862 single base substitution C T downstream_gene_variant LUSC-KR 1 161130863 161130863 single base substitution C T downstream_gene_variant LUSC-US 1 161127061 161127061 single base substitution G T exon_variant LUSC-US 1 161127061 161127061 single base substitution G T missense_variant W70L 209G>T LUSC-US 1 161130856 161130856 single base substitution G T downstream_gene_variant LUSC-US 1 161130911 161130911 single base substitution G T downstream_gene_variant LUSC-US 1 161132464 161132464 single base substitution A T downstream_gene_variant MALY-DE 1 161117836 161117836 single base substitution C T upstream_gene_variant MALY-DE 1 161121753 161121753 single base substitution C T upstream_gene_variant MALY-DE 1 161128856 161128856 single base substitution C T downstream_gene_variant MALY-DE 1 161131355 161131355 single base substitution C A downstream_gene_variant MELA-AU 1 161117947 161117948 multiple base substitution (>=2bp and <=200bp) CC GT upstream_gene_variant MELA-AU 1 161118988 161118988 single base substitution C T upstream_gene_variant MELA-AU 1 161119956 161119956 single base substitution C G upstream_gene_variant MELA-AU 1 161120302 161120302 single base substitution C T upstream_gene_variant MELA-AU 1 161120654 161120654 single base substitution G A upstream_gene_variant MELA-AU 1 161120796 161120796 deletion of <=200bp G - upstream_gene_variant MELA-AU 1 161120802 161120802 single base substitution C T upstream_gene_variant MELA-AU 1 161120875 161120875 single base substitution C T upstream_gene_variant MELA-AU 1 161120929 161120929 single base substitution C T upstream_gene_variant MELA-AU 1 161121050 161121050 single base substitution C T upstream_gene_variant MELA-AU 1 161121077 161121077 single base substitution G A upstream_gene_variant MELA-AU 1 161121165 161121165 single base substitution C T upstream_gene_variant MELA-AU 1 161121908 161121908 single base substitution A G upstream_gene_variant MELA-AU 1 161121920 161121920 single base substitution A T upstream_gene_variant MELA-AU 1 161121945 161121945 single base substitution C T upstream_gene_variant MELA-AU 1 161121995 161121995 single base substitution T G upstream_gene_variant MELA-AU 1 161122289 161122289 single base substitution G A upstream_gene_variant MELA-AU 1 161124402 161124402 single base substitution G T intron_variant MELA-AU 1 161124672 161124672 single base substitution G A intron_variant MELA-AU 1 161125006 161125006 single base substitution C T intron_variant MELA-AU 1 161126429 161126429 single base substitution C T intron_variant MELA-AU 1 161126485 161126485 single base substitution A C intron_variant MELA-AU 1 161126693 161126694 multiple base substitution (>=2bp and <=200bp) CC TT intron_variant MELA-AU 1 161126748 161126748 single base substitution G A exon_variant MELA-AU 1 161126748 161126748 single base substitution G A synonymous_variant E44E 132G>A MELA-AU 1 161126770 161126770 single base substitution G A exon_variant MELA-AU 1 161126770 161126770 single base substitution G A missense_variant D52N 154G>A MELA-AU 1 161126870 161126870 single base substitution C T exon_variant MELA-AU 1 161126870 161126870 single base substitution C T intron_variant MELA-AU 1 161127526 161127526 single base substitution A G downstream_gene_variant MELA-AU 1 161127526 161127526 single base substitution A G exon_variant MELA-AU 1 161127526 161127526 single base substitution A G intron_variant MELA-AU 1 161128133 161128133 single base substitution G A downstream_gene_variant MELA-AU 1 161128133 161128133 single base substitution G A intron_variant MELA-AU 1 161128900 161128900 single base substitution G A downstream_gene_variant MELA-AU 1 161129226 161129226 single base substitution G A downstream_gene_variant MELA-AU 1 161129243 161129243 single base substitution C T downstream_gene_variant MELA-AU 1 161129252 161129252 single base substitution A G downstream_gene_variant MELA-AU 1 161129352 161129352 single base substitution G A downstream_gene_variant MELA-AU 1 161129639 161129639 single base substitution C T downstream_gene_variant MELA-AU 1 161129756 161129756 single base substitution C T downstream_gene_variant MELA-AU 1 161130441 161130441 single base substitution C T downstream_gene_variant MELA-AU 1 161130697 161130697 single base substitution C T downstream_gene_variant MELA-AU 1 161130757 161130757 single base substitution C T downstream_gene_variant MELA-AU 1 161131627 161131627 single base substitution C T downstream_gene_variant MELA-AU 1 161131824 161131824 single base substitution C T downstream_gene_variant MELA-AU 1 161132484 161132484 single base substitution C T downstream_gene_variant MELA-AU 1 161133088 161133088 single base substitution G A downstream_gene_variant MELA-AU 1 161133147 161133147 single base substitution C T downstream_gene_variant ORCA-IN 1 161130001 161130001 single base substitution G A downstream_gene_variant ORCA-IN 1 161133381 161133381 single base substitution C A downstream_gene_variant OV-AU 1 161121241 161121241 single base substitution G T upstream_gene_variant OV-AU 1 161130628 161130628 single base substitution G A downstream_gene_variant OV-US 1 161130804 161130804 single base substitution C T downstream_gene_variant OV-US 1 161132065 161132065 single base substitution C T downstream_gene_variant PACA-AU 1 161123946 161123946 single base substitution A G intron_variant PACA-AU 1 161126524 161126524 single base substitution C A intron_variant PACA-AU 1 161127126 161127143 deletion of <=200bp GAAATATGAAGGTTAGTA - exon_variant PACA-AU 1 161127126 161127143 deletion of <=200bp GAAATATGAAGGTTAGTA - intron_variant PACA-CA 1 161118120 161118120 single base substitution G T upstream_gene_variant PACA-CA 1 161118956 161118956 single base substitution G A upstream_gene_variant PACA-CA 1 161121354 161121354 single base substitution G A upstream_gene_variant PACA-CA 1 161129565 161129565 single base substitution G C downstream_gene_variant PACA-CA 1 161131441 161131441 single base substitution T C downstream_gene_variant PAEN-IT 1 161125913 161125913 single base substitution G T intron_variant PBCA-DE 1 161127403 161127403 single base substitution C A downstream_gene_variant PBCA-DE 1 161127403 161127403 single base substitution C A intron_variant PBCA-DE 1 161127403 161127403 single base substitution C A splice_region_variant PRAD-CA 1 161132847 161132847 single base substitution A G downstream_gene_variant PRAD-UK 1 161118594 161118594 single base substitution G C upstream_gene_variant PRAD-UK 1 161121353 161121353 single base substitution C T upstream_gene_variant READ-US 1 161130911 161130911 single base substitution G A downstream_gene_variant RECA-CN 1 161130795 161130795 single base substitution T C downstream_gene_variant SKCA-BR 1 161126433 161126433 single base substitution A T intron_variant SKCA-BR 1 161127077 161127077 single base substitution C T exon_variant SKCA-BR 1 161127077 161127077 single base substitution C T synonymous_variant L75L 225C>T SKCA-BR 1 161127598 161127598 single base substitution T G downstream_gene_variant SKCA-BR 1 161127598 161127598 single base substitution T G exon_variant SKCA-BR 1 161127598 161127598 single base substitution T G intron_variant SKCA-BR 1 161128373 161128373 single base substitution C T 3_prime_UTR_variant SKCA-BR 1 161128373 161128373 single base substitution C T downstream_gene_variant SKCA-BR 1 161128373 161128373 single base substitution C T exon_variant SKCM-US 1 161127057 161127057 single base substitution T A exon_variant SKCM-US 1 161127057 161127057 single base substitution T A missense_variant C69S 205T>A SKCM-US 1 161127075 161127075 single base substitution C T exon_variant SKCM-US 1 161127075 161127075 single base substitution C T missense_variant L75F 223C>T SKCM-US 1 161128000 161128000 single base substitution G T downstream_gene_variant SKCM-US 1 161128000 161128000 single base substitution G T exon_variant SKCM-US 1 161128000 161128000 single base substitution G T intron_variant SKCM-US 1 161128000 161128000 single base substitution G T missense_variant G141V 422G>T SKCM-US 1 161130441 161130441 single base substitution C T downstream_gene_variant SKCM-US 1 161130677 161130677 single base substitution C T downstream_gene_variant SKCM-US 1 161130686 161130686 single base substitution C T downstream_gene_variant SKCM-US 1 161130921 161130921 single base substitution C T downstream_gene_variant SKCM-US 1 161130934 161130934 single base substitution C T downstream_gene_variant SKCM-US 1 161130935 161130935 single base substitution C T downstream_gene_variant SKCM-US 1 161132472 161132472 single base substitution C T downstream_gene_variant SKCM-US 1 161132788 161132788 single base substitution C T downstream_gene_variant STAD-US 1 161130563 161130563 single base substitution C T downstream_gene_variant STAD-US 1 161130687 161130687 single base substitution A G downstream_gene_variant STAD-US 1 161130992 161130992 single base substitution G A downstream_gene_variant STAD-US 1 161133376 161133376 single base substitution C T downstream_gene_variant STAD-US 1 161133410 161133410 single base substitution G C downstream_gene_variant THCA-SA 1 161132827 161132827 single base substitution C T downstream_gene_variant UCEC-US 1 161123797 161123797 single base substitution G T exon_variant UCEC-US 1 161123797 161123797 single base substitution G T stop_gained E4* 10G>T UCEC-US 1 161123797 161123797 single base substitution G T upstream_gene_variant UCEC-US 1 161126806 161126806 single base substitution C T exon_variant UCEC-US 1 161126806 161126806 single base substitution C T missense_variant R64W 190C>T UCEC-US 1 161126806 161126806 single base substitution C T splice_region_variant UCEC-US 1 161128232 161128232 single base substitution G C downstream_gene_variant UCEC-US 1 161128232 161128232 single base substitution G C exon_variant UCEC-US 1 161128232 161128232 single base substitution G C missense_variant D152H 454G>C UCEC-US 1 161130461 161130461 single base substitution C T downstream_gene_variant UCEC-US 1 161130578 161130578 single base substitution C T downstream_gene_variant UCEC-US 1 161130638 161130638 single base substitution C T downstream_gene_variant UCEC-US 1 161130674 161130674 single base substitution C A downstream_gene_variant UCEC-US 1 161130777 161130777 single base substitution G A downstream_gene_variant UCEC-US 1 161130906 161130906 single base substitution G A downstream_gene_variant UCEC-US 1 161131871 161131871 single base substitution G A downstream_gene_variant UCEC-US 1 161132833 161132833 single base substitution G T downstream_gene_variant

Mutation - COSMIC Sample Name Mutation ID Mutation CDS Mutation AA Mutation Description Mutation Genome Position Mutation Strand Au3 COSM5602554 c.162C>T p.F54F Substitution - coding silent 1:161156988-161156988 + BCM337T COSM4799210 c.451C>T p.P151S Substitution - Missense 1:161158439-161158439 + LS513 COSM2086758 c.424C>G p.L142V Substitution - Missense 1:161158412-161158412 + TCGA-BH-A0E1-01 COSM424366 c.335G>C p.G112A Substitution - Missense 1:161158123-161158123 + 2217539 COSM4422105 c.480A>T p.Q160H Substitution - Missense 1:161158468-161158468 + TCGA-BS-A0UV-01 COSM898475 c.10G>T p.E4* Substitution - Nonsense 1:161154007-161154007 + NB-1246 COSM1288809 c.436C>A p.L146M Substitution - Missense 1:161158424-161158424 + BCM337T COSM4799210 c.451C>T p.P151S Substitution - Missense 1:161158439-161158439 + TCGA-59-2372-01 COSM1319819 c.208T>G p.W70G Substitution - Missense 1:161157270-161157270 + LUAD-E00443 COSM363589 c.15C>A p.A5A Substitution - coding silent 1:161154012-161154012 + TCGA-D1-A103-01 COSM898476 c.190C>T p.R64W Substitution - Missense 1:161157016-161157016 + ESO-118 COSM1269684 c.307G>C p.D103H Substitution - Missense 1:161157668-161157668 + HT-29 COSM1668153 c.138C>G p.N46K Substitution - Missense 1:161156964-161156964 + LIM1215 COSM4224240 c.173C>T p.S58F Substitution - Missense 1:161156999-161156999 + TCGA-C5-A1MF-01 COSM4820709 c.427G>A p.G143S Substitution - Missense 1:161158415-161158415 + TCGA-EE-A180-06 COSM3477179 c.422G>T p.G141V Substitution - Missense 1:161158210-161158210 + Gp2D COSM4626864 c.328T>C p.Y110H Substitution - Missense 1:161157689-161157689 + PD11380a COSM4739028 c.255+1G>A p.? Unknown 1:161157318-161157318 + TCGA-AD-6889-01 COSM1335628 c.292G>A p.A98T Substitution - Missense 1:161157653-161157653 + TCGA-D3-A51R-06 COSM3477177 c.205T>A p.C69S Substitution - Missense 1:161157267-161157267 + TCGA-B5-A0JN-01 COSM898477 c.454G>C p.D152H Substitution - Missense 1:161158442-161158442 + ICGC_MB56 COSM3764123 c.256-4C>A p.? Unknown 1:161157613-161157613 + TCGA-D3-A51R-06 COSM3477178 c.223C>T p.L75F Substitution - Missense 1:161157285-161157285 + H358 COSM1194159 c.23G>T p.R8L Substitution - Missense 1:161154020-161154020 + PD11750a COSM5796756 c.60C>G p.A20A Substitution - coding silent 1:161154057-161154057 + 61 COSM5735710 c.497A>C p.N166T Substitution - Missense 1:161158485-161158485 + T636 COSM4739028 c.255+1G>A p.? Unknown 1:161157318-161157318 + TCGA-18-3409-01 COSM676672 c.209G>T p.W70L Substitution - Missense 1:161157271-161157271 + ESCC-D7 COSM5046364 c.220G>A p.D74N Substitution - Missense 1:161157282-161157282 + RK308_C01 COSM2086759 c.432A>G p.P144P Substitution - coding silent 1:161158420-161158420 +

Mutation - CGAP UNIGENE CYTOBAND OMIM SNP Hs.301412 1q23.3 610554 2390469|CGAP|BC005187|G/T|coding|Gly113Cys|582|Candidate

Mutation - IntOGen Mutated from(ref) Mutated to(alt) Consequence Type AA Mutation CDS Mutation Chr Pos Cancer A - IntronicDeletion . c.333-203delA 1 161127696 STAD C A Missense p.L146M c.436C>A 1 161128214 NB C A Synonymous p.R23R c.67C>A 1 161123854 LUAD C T Missense p.R8C c.22C>T 1 161123809 LUAD G C Missense p.D103H c.307G>C 1 161127458 ESCA G C Missense p.D152H c.454G>C 1 161128232 UCEC G C Missense p.G112A c.335G>C 1 161127913 BRCA G T Missense p.G141V c.422G>T 1 161128000 CM G T Missense p.R64L c.191G>T 1 161126807 LUAD G T Synonymous p.T118T c.354G>T 1 161127932 LUAD