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 ACC 1 11115019 11115019 + Splice_Site SNP C C A TCGA-PK-A5HB-01A-11D-A29I-10 TCGA-PK-A5HB-11A-11D-A29L-10 g.chr1:11115019C>A c.888G>T c.(886-888)aaG>aaT p.K296N ACC 1 11119899 11119899 + Silent SNP T T C TCGA-OR-A5JD-01A-11D-A29I-10 TCGA-OR-A5JD-10B-01D-A29L-10 g.chr1:11119899T>C c.102A>G c.(100-102)tcA>tcG p.S34S ACC 1 11119899 11119899 + Silent SNP T T C TCGA-OR-A5JL-01A-11D-A29I-10 TCGA-OR-A5JL-10A-01D-A29L-10 g.chr1:11119899T>C c.102A>G c.(100-102)tcA>tcG p.S34S ACC 1 11119899 11119899 + Silent SNP T T C TCGA-OR-A5JP-01A-11D-A29I-10 TCGA-OR-A5JP-10A-01D-A29L-10 g.chr1:11119899T>C c.102A>G c.(100-102)tcA>tcG p.S34S ACC 1 11119899 11119899 + Silent SNP T T C TCGA-OR-A5KB-01A-11D-A30A-10 TCGA-OR-A5KB-11A-11D-A30A-10 g.chr1:11119899T>C c.102A>G c.(100-102)tcA>tcG p.S34S ACC 1 11119899 11119899 + Silent SNP T T C TCGA-OR-A5KZ-01A-11D-A29I-10 TCGA-OR-A5KZ-10A-01D-A29L-10 g.chr1:11119899T>C c.102A>G c.(100-102)tcA>tcG p.S34S ACC 1 11119899 11119899 + Silent SNP T T C TCGA-OR-A5LD-01A-11D-A29I-10 TCGA-OR-A5LD-10A-01D-A29L-10 g.chr1:11119899T>C c.102A>G c.(100-102)tcA>tcG p.S34S ACC 1 11119899 11119899 + Silent SNP T T C TCGA-OR-A5LJ-01A-11D-A29I-10 TCGA-OR-A5LJ-10A-01D-A29L-10 g.chr1:11119899T>C c.102A>G c.(100-102)tcA>tcG p.S34S BLCA 1 11115109 11115109 + Silent SNP C C T TCGA-4Z-AA7N-01A-11D-A391-08 TCGA-4Z-AA7N-10A-01D-A394-08 g.chr1:11115109C>T c.798G>A c.(796-798)ctG>ctA p.L266L BLCA 1 11115915 11115915 + Missense_Mutation SNP C C T TCGA-DK-A1A3-01A-11D-A13W-08 TCGA-DK-A1A3-10A-01D-A13W-08 g.chr1:11115915C>T c.688G>A c.(688-690)Gtg>Atg p.V230M BLCA 1 11115981 11115981 + Missense_Mutation SNP C C G TCGA-UY-A9PH-01A-11D-A38G-08 TCGA-UY-A9PH-10A-01D-A38J-08 g.chr1:11115981C>G c.622G>C c.(622-624)Gag>Cag p.E208Q BLCA 1 11116794 11116794 + Missense_Mutation SNP C C A TCGA-G2-A2EO-01A-11D-A17V-08 TCGA-G2-A2EO-11A-21D-A17V-08 g.chr1:11116794C>A c.402G>T c.(400-402)aaG>aaT p.K134N BRCA 1 11116764 11116764 + Nonsense_Mutation SNP G G T TCGA-D8-A27G-01A-11D-A16D-09 TCGA-D8-A27G-10A-01D-A16D-09 g.chr1:11116764G>T c.432C>A c.(430-432)taC>taA p.Y144* BRCA 1 11116774 11116774 + Missense_Mutation SNP G G A TCGA-HN-A2OB-01A-21D-A27P-09 TCGA-HN-A2OB-10B-01D-A27P-09 g.chr1:11116774G>A c.422C>T c.(421-423)gCc>gTc p.A141V BRCA 1 11119330 11119330 + Missense_Mutation SNP C C G TCGA-GI-A2C8-01A-11D-A16D-09 TCGA-GI-A2C8-11A-22D-A16D-09 g.chr1:11119330C>G c.240G>C c.(238-240)caG>caC p.Q80H CESC 1 11116762 11116762 + Missense_Mutation SNP G G A TCGA-DG-A2KK-01A-11D-A17W-09 TCGA-DG-A2KK-10A-01D-A17W-09 g.chr1:11116762G>A c.434C>T c.(433-435)tCt>tTt p.S145F COAD 1 11115054 11115054 + Missense_Mutation SNP G G A TCGA-CK-6746-01A-11D-1835-10 TCGA-CK-6746-10A-01D-1835-10 g.chr1:11115054G>A c.853C>T c.(853-855)Cgc>Tgc p.R285C COAD 1 11116779 11116779 + Silent SNP G G A TCGA-AA-A01R-01A-21W-A096-10 TCGA-AA-A01R-11A-12W-A096-10 g.chr1:11116779G>A c.417C>T c.(415-417)ggC>ggT p.G139G COAD 1 11116800 11116800 + Silent SNP G G T TCGA-AZ-4315-01A-01D-1408-10 TCGA-AZ-4315-10A-01D-1408-10 g.chr1:11116800G>T c.396C>A c.(394-396)gtC>gtA p.V132V COADREAD 1 11115054 11115054 + Missense_Mutation SNP G G A TCGA-CK-6746-01A-11D-1835-10 TCGA-CK-6746-10A-01D-1835-10 g.chr1:11115054G>A c.853C>T c.(853-855)Cgc>Tgc p.R285C COADREAD 1 11116779 11116779 + Silent SNP G G A TCGA-AA-A01R-01A-21W-A096-10 TCGA-AA-A01R-11A-12W-A096-10 g.chr1:11116779G>A c.417C>T c.(415-417)ggC>ggT p.G139G COADREAD 1 11116800 11116800 + Silent SNP G G T TCGA-AZ-4315-01A-01D-1408-10 TCGA-AZ-4315-10A-01D-1408-10 g.chr1:11116800G>T c.396C>A c.(394-396)gtC>gtA p.V132V DLBC 1 11115065 11115065 + Missense_Mutation SNP G G C TCGA-GS-A9TW-01A-11D-A382-10 TCGA-GS-A9TW-10A-01D-A385-10 g.chr1:11115065G>C c.842C>G c.(841-843)tCc>tGc p.S281C ESCA 1 11115982 11115982 + Splice_Site SNP G G T TCGA-L5-A4OI-01A-11D-A27G-09 TCGA-L5-A4OI-11A-11D-A27G-09 g.chr1:11115982G>T c.621C>A c.(619-621)ggC>ggA p.G207G ESCA 1 11116694 11116694 + Missense_Mutation SNP C C T TCGA-L5-A4OH-01A-11D-A27G-09 TCGA-L5-A4OH-11A-11D-A27G-09 g.chr1:11116694C>T c.502G>A c.(502-504)Gac>Aac p.D168N ESCA 1 11116718 11116718 + Missense_Mutation SNP T T C TCGA-L5-A4OH-01A-11D-A27G-09 TCGA-L5-A4OH-11A-11D-A27G-09 g.chr1:11116718T>C c.478A>G c.(478-480)Atg>Gtg p.M160V GBMLGG 1 11115092 11115092 + Missense_Mutation SNP G G A TCGA-DU-A76R-01A-11D-A32B-08 TCGA-DU-A76R-10A-01D-A329-08 g.chr1:11115092G>A c.815C>T c.(814-816)gCg>gTg p.A272V GBMLGG 1 11119373 11119373 + Missense_Mutation SNP T T A TCGA-DU-6392-01A-11D-1705-08 TCGA-DU-6392-10A-01D-1705-08 g.chr1:11119373T>A c.197A>T c.(196-198)gAc>gTc p.D66V LGG 1 11115092 11115092 + Missense_Mutation SNP G G A TCGA-DU-A76R-01A-11D-A32B-08 TCGA-DU-A76R-10A-01D-A329-08 g.chr1:11115092G>A c.815C>T c.(814-816)gCg>gTg p.A272V LGG 1 11119373 11119373 + Missense_Mutation SNP T T A TCGA-DU-6392-01A-11D-1705-08 TCGA-DU-6392-10A-01D-1705-08 g.chr1:11119373T>A c.197A>T c.(196-198)gAc>gTc p.D66V LIHC 1 11119332 11119332 + Nonsense_Mutation SNP G G A TCGA-CC-5264-01A-01D-A12Z-10 TCGA-CC-5264-10A-01D-A12Z-10 g.chr1:11119332G>A c.238C>T c.(238-240)Cag>Tag p.Q80* LIHC 1 11119332 11119332 + Nonsense_Mutation SNP G G A TCGA-DD-A1EE-01A-11D-A12Z-10 TCGA-DD-A1EE-10A-01D-A12Z-10 g.chr1:11119332G>A c.238C>T c.(238-240)Cag>Tag p.Q80* LUAD 1 11115022 11115022 + Silent SNP G G T TCGA-93-8067-01A-11D-2284-08 TCGA-93-8067-10A-01D-2284-08 g.chr1:11115022G>T c.885C>A c.(883-885)cgC>cgA p.R295R LUAD 1 11115026 11115026 + Missense_Mutation SNP G G A TCGA-17-Z033-01A-01W-0746-08 TCGA-17-Z033-11A-01W-0746-08 g.chr1:11115026G>A c.881C>T c.(880-882)gCc>gTc p.A294V LUAD 1 11116146 11116146 + Missense_Mutation SNP C C T TCGA-35-4122-01A-01D-1105-08 TCGA-35-4122-10A-01D-1105-08 g.chr1:11116146C>T c.541G>A c.(541-543)Gcc>Acc p.A181T PRAD 1 11115092 11115092 + Missense_Mutation SNP G G A TCGA-XK-AAIW-01A-11D-A41K-08 TCGA-XK-AAIW-10A-01D-A41N-08 g.chr1:11115092G>A c.815C>T c.(814-816)gCg>gTg p.A272V PRAD 1 11119363 11119363 + Silent SNP G G A TCGA-XK-AAIW-01A-11D-A41K-08 TCGA-XK-AAIW-10A-01D-A41N-08 g.chr1:11119363G>A c.207C>T c.(205-207)atC>atT p.I69I SKCM 1 11115049 11115049 + Silent SNP G G C TCGA-D3-A2JO-06A-11D-A196-08 TCGA-D3-A2JO-10A-01D-A198-08 g.chr1:11115049G>C c.858C>G c.(856-858)gcC>gcG p.A286A SKCM 1 11115859 11115859 + Silent SNP G G A TCGA-DA-A1I1-06A-12D-A196-08 TCGA-DA-A1I1-10A-01D-A198-08 g.chr1:11115859G>A c.744C>T c.(742-744)ttC>ttT p.F248F SKCM 1 11116698 11116698 + Silent SNP G G A TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 g.chr1:11116698G>A c.498C>T c.(496-498)gcC>gcT p.A166A SKCM 1 11116706 11116706 + Nonsense_Mutation SNP G G A TCGA-RP-A695-06A-11D-A30X-08 TCGA-RP-A695-10A-01D-A30X-08 g.chr1:11116706G>A c.490C>T c.(490-492)Cag>Tag p.Q164* SKCM 1 11118916 11118916 + Silent SNP G G A TCGA-D3-A2JF-06A-11D-A196-08 TCGA-D3-A2JF-10A-01D-A198-08 g.chr1:11118916G>A c.322C>T c.(322-324)Ctg>Ttg p.L108L

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 1 11115915 11115915 single base substitution C T downstream_gene_variant BLCA-US 1 11115915 11115915 single base substitution C T missense_variant V230M 688G>A BLCA-US 1 11115915 11115915 single base substitution C T upstream_gene_variant BLCA-US 1 11116794 11116794 single base substitution C A 3_prime_UTR_variant BLCA-US 1 11116794 11116794 single base substitution C A missense_variant K108N 324G>T BLCA-US 1 11116794 11116794 single base substitution C A missense_variant K134N 402G>T BLCA-US 1 11116794 11116794 single base substitution C A missense_variant K61N 183G>T BLCA-US 1 11116794 11116794 single base substitution C A upstream_gene_variant BRCA-EU 1 11109818 11109818 single base substitution G A downstream_gene_variant BRCA-EU 1 11110176 11110176 single base substitution G T downstream_gene_variant BRCA-EU 1 11113255 11113255 single base substitution G T downstream_gene_variant BRCA-EU 1 11113831 11113831 single base substitution G A downstream_gene_variant BRCA-EU 1 11114384 11114384 single base substitution C T downstream_gene_variant BRCA-EU 1 11116932 11116932 deletion of <=200bp T - intron_variant BRCA-EU 1 11116932 11116932 deletion of <=200bp T - upstream_gene_variant BRCA-EU 1 11119247 11119247 single base substitution C G intron_variant BRCA-EU 1 11119247 11119247 single base substitution C G upstream_gene_variant BRCA-EU 1 11121068 11121068 single base substitution C A upstream_gene_variant BRCA-EU 1 11121110 11121110 single base substitution G C upstream_gene_variant BRCA-EU 1 11121712 11121712 single base substitution G A upstream_gene_variant BRCA-EU 1 11121718 11121718 single base substitution T G upstream_gene_variant BRCA-EU 1 11122126 11122126 single base substitution G T upstream_gene_variant BRCA-EU 1 11122138 11122138 single base substitution C T upstream_gene_variant BRCA-FR 1 11110890 11110890 single base substitution C T downstream_gene_variant BRCA-US 1 11116759 11116759 single base substitution C A 3_prime_UTR_variant BRCA-US 1 11116759 11116759 single base substitution C A missense_variant S146I 437G>T BRCA-US 1 11116759 11116759 single base substitution C A missense_variant S73I 218G>T BRCA-US 1 11116759 11116759 single base substitution C A synonymous_variant ?120 BRCA-US 1 11116759 11116759 single base substitution C A upstream_gene_variant BRCA-US 1 11116764 11116764 single base substitution G T 3_prime_UTR_variant BRCA-US 1 11116764 11116764 single base substitution G T stop_gained Y118* 354C>A BRCA-US 1 11116764 11116764 single base substitution G T stop_gained Y144* 432C>A BRCA-US 1 11116764 11116764 single base substitution G T stop_gained Y71* 213C>A BRCA-US 1 11116764 11116764 single base substitution G T upstream_gene_variant BRCA-US 1 11119330 11119330 single base substitution C G exon_variant BRCA-US 1 11119330 11119330 single base substitution C G missense_variant Q54H 162G>C BRCA-US 1 11119330 11119330 single base substitution C G missense_variant Q80H 240G>C BRCA-US 1 11119330 11119330 single base substitution C G upstream_gene_variant CESC-US 1 11116762 11116762 single base substitution G A 3_prime_UTR_variant CESC-US 1 11116762 11116762 single base substitution G A missense_variant S119F 356C>T CESC-US 1 11116762 11116762 single base substitution G A missense_variant S145F 434C>T CESC-US 1 11116762 11116762 single base substitution G A missense_variant S72F 215C>T CESC-US 1 11116762 11116762 single base substitution G A upstream_gene_variant COAD-US 1 11116800 11116800 single base substitution G T 3_prime_UTR_variant COAD-US 1 11116800 11116800 single base substitution G T synonymous_variant V106V 318C>A COAD-US 1 11116800 11116800 single base substitution G T synonymous_variant V132V 396C>A COAD-US 1 11116800 11116800 single base substitution G T synonymous_variant V59V 177C>A COAD-US 1 11116800 11116800 single base substitution G T upstream_gene_variant COCA-CN 1 11115941 11115941 single base substitution C T downstream_gene_variant COCA-CN 1 11115941 11115941 single base substitution C T missense_variant R221Q 662G>A COCA-CN 1 11115941 11115941 single base substitution C T upstream_gene_variant COCA-CN 1 11116040 11116040 single base substitution G A downstream_gene_variant COCA-CN 1 11116040 11116040 single base substitution G A intron_variant COCA-CN 1 11116040 11116040 single base substitution G A upstream_gene_variant COCA-CN 1 11116755 11116755 single base substitution C T 3_prime_UTR_variant COCA-CN 1 11116755 11116755 single base substitution C T downstream_gene_variant COCA-CN 1 11116755 11116755 single base substitution C T synonymous_variant S147S 441G>A COCA-CN 1 11116755 11116755 single base substitution C T synonymous_variant S74S 222G>A COCA-CN 1 11116755 11116755 single base substitution C T upstream_gene_variant COCA-CN 1 11119036 11119036 single base substitution C A intron_variant COCA-CN 1 11119036 11119036 single base substitution C A upstream_gene_variant ESAD-UK 1 11110540 11110540 single base substitution G A downstream_gene_variant ESAD-UK 1 11112009 11112009 single base substitution T A downstream_gene_variant ESAD-UK 1 11112505 11112505 single base substitution T C downstream_gene_variant ESAD-UK 1 11118511 11118511 single base substitution C T intron_variant ESAD-UK 1 11118511 11118511 single base substitution C T upstream_gene_variant ESAD-UK 1 11122491 11122491 single base substitution C G upstream_gene_variant ESAD-UK 1 11122649 11122649 deletion of <=200bp A - upstream_gene_variant ESAD-UK 1 11122764 11122764 single base substitution C T upstream_gene_variant ESAD-UK 1 11124505 11124505 single base substitution A G upstream_gene_variant ESCA-CN 1 11116149 11116149 single base substitution G A downstream_gene_variant ESCA-CN 1 11116149 11116149 single base substitution G A missense_variant P107S 319C>T ESCA-CN 1 11116149 11116149 single base substitution G A missense_variant P180S 538C>T ESCA-CN 1 11116149 11116149 single base substitution G A splice_region_variant ESCA-CN 1 11116149 11116149 single base substitution G A upstream_gene_variant LAML-KR 1 11119135 11119135 single base substitution G A intron_variant LAML-KR 1 11119135 11119135 single base substitution G A upstream_gene_variant LICA-FR 1 11119302 11119302 single base substitution T C 3_prime_UTR_variant LICA-FR 1 11119302 11119302 single base substitution T C missense_variant S64G 190A>G LICA-FR 1 11119302 11119302 single base substitution T C missense_variant S90G 268A>G LICA-FR 1 11119302 11119302 single base substitution T C upstream_gene_variant LICA-FR 1 11121517 11121517 deletion of <=200bp A - upstream_gene_variant LICA-FR 1 11123042 11123042 single base substitution A G upstream_gene_variant LIHC-US 1 11118901 11118901 single base substitution T C 3_prime_UTR_variant LIHC-US 1 11118901 11118901 single base substitution T C missense_variant K10E 28A>G LIHC-US 1 11118901 11118901 single base substitution T C missense_variant K113E 337A>G LIHC-US 1 11118901 11118901 single base substitution T C missense_variant K87E 259A>G LIHC-US 1 11118901 11118901 single base substitution T C upstream_gene_variant LIHC-US 1 11119332 11119332 single base substitution G A exon_variant LIHC-US 1 11119332 11119332 single base substitution G A stop_gained Q54* 160C>T LIHC-US 1 11119332 11119332 single base substitution G A stop_gained Q80* 238C>T LIHC-US 1 11119332 11119332 single base substitution G A upstream_gene_variant LINC-JP 1 11115129 11115129 single base substitution G T downstream_gene_variant LINC-JP 1 11115129 11115129 single base substitution G T exon_variant LINC-JP 1 11115129 11115129 single base substitution G T missense_variant Q18K 52C>A LINC-JP 1 11115129 11115129 single base substitution G T missense_variant Q260K 778C>A LINC-JP 1 11115136 11115136 single base substitution C A downstream_gene_variant LINC-JP 1 11115136 11115136 single base substitution C A exon_variant LINC-JP 1 11115136 11115136 single base substitution C A synonymous_variant T15T 45G>T LINC-JP 1 11115136 11115136 single base substitution C A synonymous_variant T257T 771G>T LINC-JP 1 11119053 11119053 single base substitution T G intron_variant LINC-JP 1 11119053 11119053 single base substitution T G upstream_gene_variant LINC-JP 1 11122831 11122831 single base substitution A C upstream_gene_variant LIRI-JP 1 11112734 11112734 single base substitution C T downstream_gene_variant LIRI-JP 1 11113570 11113570 single base substitution C T downstream_gene_variant LIRI-JP 1 11117996 11117996 single base substitution C T intron_variant LIRI-JP 1 11117996 11117996 single base substitution C T upstream_gene_variant LIRI-JP 1 11120804 11120804 single base substitution G T upstream_gene_variant LIRI-JP 1 11123177 11123177 single base substitution T C upstream_gene_variant LUSC-KR 1 11111432 11111432 single base substitution G A downstream_gene_variant LUSC-KR 1 11116052 11116052 single base substitution C T downstream_gene_variant LUSC-KR 1 11116052 11116052 single base substitution C T intron_variant LUSC-KR 1 11116052 11116052 single base substitution C T upstream_gene_variant LUSC-KR 1 11120377 11120377 single base substitution C T upstream_gene_variant MALY-DE 1 11113039 11113039 single base substitution G A downstream_gene_variant MELA-AU 1 11109709 11109709 single base substitution A G downstream_gene_variant MELA-AU 1 11109791 11109791 single base substitution G A downstream_gene_variant MELA-AU 1 11109867 11109867 single base substitution C T downstream_gene_variant MELA-AU 1 11109985 11109985 single base substitution A G downstream_gene_variant MELA-AU 1 11110181 11110181 single base substitution G A downstream_gene_variant MELA-AU 1 11110366 11110366 single base substitution G A downstream_gene_variant MELA-AU 1 11110951 11110951 single base substitution C T downstream_gene_variant MELA-AU 1 11112571 11112571 single base substitution G A downstream_gene_variant MELA-AU 1 11112615 11112615 single base substitution C T downstream_gene_variant MELA-AU 1 11112623 11112623 single base substitution G A downstream_gene_variant MELA-AU 1 11113282 11113283 multiple base substitution (>=2bp and <=200bp) GG AA downstream_gene_variant MELA-AU 1 11113760 11113760 single base substitution C T downstream_gene_variant MELA-AU 1 11114500 11114500 single base substitution G A downstream_gene_variant MELA-AU 1 11114503 11114503 single base substitution G A downstream_gene_variant MELA-AU 1 11114856 11114856 single base substitution G A 3_prime_UTR_variant MELA-AU 1 11114856 11114856 single base substitution G A downstream_gene_variant MELA-AU 1 11114856 11114856 single base substitution G A exon_variant MELA-AU 1 11116143 11116143 single base substitution C T 3_prime_UTR_variant MELA-AU 1 11116143 11116143 single base substitution C T downstream_gene_variant MELA-AU 1 11116143 11116143 single base substitution C T missense_variant E109K 325G>A MELA-AU 1 11116143 11116143 single base substitution C T missense_variant E182K 544G>A MELA-AU 1 11116143 11116143 single base substitution C T upstream_gene_variant MELA-AU 1 11116465 11116465 single base substitution G A downstream_gene_variant MELA-AU 1 11116465 11116465 single base substitution G A intron_variant MELA-AU 1 11116465 11116465 single base substitution G A upstream_gene_variant MELA-AU 1 11117028 11117028 single base substitution G A intron_variant MELA-AU 1 11117028 11117028 single base substitution G A upstream_gene_variant MELA-AU 1 11117637 11117637 single base substitution G A intron_variant MELA-AU 1 11117637 11117637 single base substitution G A upstream_gene_variant MELA-AU 1 11118565 11118565 single base substitution C T intron_variant MELA-AU 1 11118565 11118565 single base substitution C T upstream_gene_variant MELA-AU 1 11118590 11118591 multiple base substitution (>=2bp and <=200bp) CC TT intron_variant MELA-AU 1 11118590 11118591 multiple base substitution (>=2bp and <=200bp) CC TT upstream_gene_variant MELA-AU 1 11119425 11119425 single base substitution G A exon_variant MELA-AU 1 11119425 11119425 single base substitution G A intron_variant MELA-AU 1 11119425 11119425 single base substitution G A missense_variant P23S 67C>T MELA-AU 1 11119425 11119425 single base substitution G A upstream_gene_variant MELA-AU 1 11119448 11119448 single base substitution G A intron_variant MELA-AU 1 11119448 11119448 single base substitution G A missense_variant S15F 44C>T MELA-AU 1 11119448 11119448 single base substitution G A upstream_gene_variant MELA-AU 1 11119650 11119650 single base substitution C G 5_prime_UTR_variant MELA-AU 1 11119650 11119650 single base substitution C G intron_variant MELA-AU 1 11119650 11119650 single base substitution C G upstream_gene_variant MELA-AU 1 11119658 11119658 single base substitution G A 5_prime_UTR_variant MELA-AU 1 11119658 11119658 single base substitution G A intron_variant MELA-AU 1 11119658 11119658 single base substitution G A upstream_gene_variant MELA-AU 1 11124871 11124871 single base substitution C T upstream_gene_variant ORCA-IN 1 11114062 11114062 single base substitution G T downstream_gene_variant OV-AU 1 11110161 11110161 single base substitution C G downstream_gene_variant OV-AU 1 11116417 11116417 single base substitution C T downstream_gene_variant OV-AU 1 11116417 11116417 single base substitution C T intron_variant OV-AU 1 11116417 11116417 single base substitution C T upstream_gene_variant OV-AU 1 11117708 11117708 single base substitution C A intron_variant OV-AU 1 11117708 11117708 single base substitution C A upstream_gene_variant OV-AU 1 11118214 11118214 single base substitution C A intron_variant OV-AU 1 11118214 11118214 single base substitution C A upstream_gene_variant OV-AU 1 11119721 11119721 single base substitution G C 5_prime_UTR_variant OV-AU 1 11119721 11119721 single base substitution G C intron_variant OV-AU 1 11119721 11119721 single base substitution G C upstream_gene_variant PACA-AU 1 11112853 11112853 single base substitution C T downstream_gene_variant PACA-AU 1 11119466 11119466 single base substitution G T intron_variant PACA-AU 1 11119466 11119466 single base substitution G T missense_variant A9E 26C>A PACA-AU 1 11119466 11119466 single base substitution G T upstream_gene_variant PACA-AU 1 11124032 11124032 single base substitution A C upstream_gene_variant PACA-CA 1 11116932 11116932 deletion of <=200bp T - intron_variant PACA-CA 1 11116932 11116932 deletion of <=200bp T - upstream_gene_variant PACA-CA 1 11120850 11120850 single base substitution T C upstream_gene_variant PACA-CA 1 11121427 11121427 single base substitution A T upstream_gene_variant PACA-CA 1 11123152 11123152 single base substitution G A upstream_gene_variant PAEN-AU 1 11123985 11123985 single base substitution C T upstream_gene_variant PAEN-IT 1 11111969 11111969 single base substitution C T downstream_gene_variant PBCA-DE 1 11111306 11111306 insertion of <=200bp - T downstream_gene_variant RECA-EU 1 11110828 11110828 single base substitution A T downstream_gene_variant RECA-EU 1 11111488 11111488 single base substitution C T downstream_gene_variant RECA-EU 1 11111567 11111567 single base substitution T A downstream_gene_variant SKCA-BR 1 11117884 11117884 single base substitution G A intron_variant SKCA-BR 1 11117884 11117884 single base substitution G A upstream_gene_variant SKCA-BR 1 11122818 11122818 insertion of <=200bp - GA upstream_gene_variant SKCA-BR 1 11123789 11123789 single base substitution G T upstream_gene_variant SKCM-US 1 11115049 11115049 single base substitution G C downstream_gene_variant SKCM-US 1 11115049 11115049 single base substitution G C exon_variant SKCM-US 1 11115049 11115049 single base substitution G C synonymous_variant A286A 858C>G SKCM-US 1 11115049 11115049 single base substitution G C synonymous_variant A44A 132C>G SKCM-US 1 11115859 11115859 single base substitution G A downstream_gene_variant SKCM-US 1 11115859 11115859 single base substitution G A synonymous_variant F248F 744C>T SKCM-US 1 11115859 11115859 single base substitution G A synonymous_variant F6F 18C>T SKCM-US 1 11115859 11115859 single base substitution G A upstream_gene_variant SKCM-US 1 11115918 11115918 single base substitution G A downstream_gene_variant SKCM-US 1 11115918 11115918 single base substitution G A missense_variant P229S 685C>T SKCM-US 1 11115918 11115918 single base substitution G A upstream_gene_variant SKCM-US 1 11116698 11116698 single base substitution G A 3_prime_UTR_variant SKCM-US 1 11116698 11116698 single base substitution G A downstream_gene_variant SKCM-US 1 11116698 11116698 single base substitution G A synonymous_variant A166A 498C>T SKCM-US 1 11116698 11116698 single base substitution G A synonymous_variant A93A 279C>T SKCM-US 1 11116698 11116698 single base substitution G A upstream_gene_variant SKCM-US 1 11116706 11116706 single base substitution G A 3_prime_UTR_variant SKCM-US 1 11116706 11116706 single base substitution G A downstream_gene_variant SKCM-US 1 11116706 11116706 single base substitution G A stop_gained Q164* 490C>T SKCM-US 1 11116706 11116706 single base substitution G A stop_gained Q91* 271C>T SKCM-US 1 11116706 11116706 single base substitution G A upstream_gene_variant SKCM-US 1 11118916 11118916 single base substitution G A 3_prime_UTR_variant SKCM-US 1 11118916 11118916 single base substitution G A synonymous_variant L108L 322C>T SKCM-US 1 11118916 11118916 single base substitution G A synonymous_variant L5L 13C>T SKCM-US 1 11118916 11118916 single base substitution G A synonymous_variant L82L 244C>T SKCM-US 1 11118916 11118916 single base substitution G A upstream_gene_variant STAD-US 1 11115064 11115064 single base substitution G A downstream_gene_variant STAD-US 1 11115064 11115064 single base substitution G A exon_variant STAD-US 1 11115064 11115064 single base substitution G A synonymous_variant S281S 843C>T STAD-US 1 11115064 11115064 single base substitution G A synonymous_variant S39S 117C>T STAD-US 1 11116784 11116784 single base substitution G A 3_prime_UTR_variant STAD-US 1 11116784 11116784 single base substitution G A missense_variant P112S 334C>T STAD-US 1 11116784 11116784 single base substitution G A missense_variant P138S 412C>T STAD-US 1 11116784 11116784 single base substitution G A missense_variant P65S 193C>T STAD-US 1 11116784 11116784 single base substitution G A upstream_gene_variant UCEC-US 1 11115064 11115064 single base substitution G A downstream_gene_variant UCEC-US 1 11115064 11115064 single base substitution G A exon_variant UCEC-US 1 11115064 11115064 single base substitution G A synonymous_variant S281S 843C>T UCEC-US 1 11115064 11115064 single base substitution G A synonymous_variant S39S 117C>T UCEC-US 1 11116811 11116811 single base substitution C T 3_prime_UTR_variant UCEC-US 1 11116811 11116811 single base substitution C T missense_variant V103I 307G>A UCEC-US 1 11116811 11116811 single base substitution C T missense_variant V129I 385G>A UCEC-US 1 11116811 11116811 single base substitution C T missense_variant V56I 166G>A UCEC-US 1 11116811 11116811 single base substitution C T upstream_gene_variant UCEC-US 1 11118893 11118893 single base substitution G A 3_prime_UTR_variant UCEC-US 1 11118893 11118893 single base substitution G A synonymous_variant P115P 345C>T UCEC-US 1 11118893 11118893 single base substitution G A synonymous_variant P12P 36C>T UCEC-US 1 11118893 11118893 single base substitution G A synonymous_variant P89P 267C>T UCEC-US 1 11118893 11118893 single base substitution G A upstream_gene_variant UCEC-US 1 11118932 11118932 single base substitution G A 3_prime_UTR_variant UCEC-US 1 11118932 11118932 single base substitution G A synonymous_variant G102G 306C>T UCEC-US 1 11118932 11118932 single base substitution G A synonymous_variant G76G 228C>T UCEC-US 1 11118932 11118932 single base substitution G A upstream_gene_variant

Mutation - COSMIC Sample Name Mutation ID Mutation CDS Mutation AA Mutation Description Mutation Genome Position Mutation Strand sysucc-834T COSM5485416 c.441G>A p.S147S Substitution - coding silent 1:11056698-11056698 - I2L-P23-Tumor-Biopsy COSM5353185 c.802C>T p.Q268* Substitution - Nonsense 1:11055048-11055048 - TCGA-EB-A431-01 COSM3471098 c.685C>T p.P229S Substitution - Missense 1:11055861-11055861 - I2L-P23-Tumor-Organoid COSM5353185 c.802C>T p.Q268* Substitution - Nonsense 1:11055048-11055048 - PD8630a COSM3720308 c.661C>A p.R221R Substitution - coding silent 1:11055885-11055885 - SC_9047 COSM5554878 c.601G>T p.G201C Substitution - Missense 1:11056029-11056029 - TCGA-AZ-4315-01 COSM1332538 c.396C>A p.V132V Substitution - coding silent 1:11056743-11056743 - PTC-10C COSM4142127 c.786G>A p.P262P Substitution - coding silent 1:11055064-11055064 - BN36T COSM1600534 c.778C>A p.Q260K Substitution - Missense 1:11055072-11055072 - TCGA-EE-A2MR-06 COSM3471099 c.498C>T p.A166A Substitution - coding silent 1:11056641-11056641 - T3174 COSM4730023 c.774C>T p.N258N Substitution - coding silent 1:11055076-11055076 - YULETA COSM3862175 c.744C>T p.F248F Substitution - coding silent 1:11055802-11055802 - TCGA-D8-A27G-01 COSM3801236 c.432C>A p.Y144* Substitution - Nonsense 1:11056707-11056707 - CSCC-31-T COSM4500421 c.564C>T p.S188S Substitution - coding silent 1:11056066-11056066 - YUCHIME COSM1686995 c.344_345CC>GT p.P115R Substitution - Missense 1:11058836-11058837 - HT115 COSM2118826 c.440C>T p.S147L Substitution - Missense 1:11056699-11056699 - TCGA-GI-A2C8-01 COSM1472404 c.240G>C p.Q80H Substitution - Missense 1:11059273-11059273 - TCGA-CC-5264-01 COSM4915144 c.238C>T p.Q80* Substitution - Nonsense 1:11059275-11059275 - TCGA-D1-A103-01 COSM893698 c.843C>T p.S281S Substitution - coding silent 1:11055007-11055007 - TCGA-D3-A2JO-06 COSM3471097 c.858C>G p.A286A Substitution - coding silent 1:11054992-11054992 - TCGA-G2-A2EO-01 COSM1294716 c.402G>T p.K134N Substitution - Missense 1:11056737-11056737 - TCGA-BG-A0MG-01 COSM893700 c.345C>T p.P115P Substitution - coding silent 1:11058836-11058836 - TCGA-D1-A15X-01 COSM893701 c.306C>T p.G102G Substitution - coding silent 1:11058875-11058875 - TCGA-AC-A3OD-01 COSM3801235 c.437G>T p.S146I Substitution - Missense 1:11056702-11056702 - CHC1715T COSM4789463 c.268A>G p.S90G Substitution - Missense 1:11059245-11059245 - KM12 COSM1667140 c.275C>T p.P92L Substitution - Missense 1:11059238-11059238 - TCGA-RP-A695-06 COSM4897000 c.490C>T p.Q164* Substitution - Nonsense 1:11056649-11056649 - TCGA-CG-5723-01 COSM893698 c.843C>T p.S281S Substitution - coding silent 1:11055007-11055007 - LUAD-RT-S01777 COSM381700 c.816G>T p.A272A Substitution - coding silent 1:11055034-11055034 - ESCC_82 COSM4828470 c.434C>T p.S145F Substitution - Missense 1:11056705-11056705 - TCGA-BR-4363-01 COSM4020540 c.412C>T p.P138S Substitution - Missense 1:11056727-11056727 - CHC1715T COSM4789463 c.268A>G p.S90G Substitution - Missense 1:11059245-11059245 - PTC-54C COSM4142128 c.102A>G p.S34S Substitution - coding silent 1:11059842-11059842 - TCGA-G3-A25W-01 COSM4927129 c.337A>G p.K113E Substitution - Missense 1:11058844-11058844 - BN36 COSM1600534 c.778C>A p.Q260K Substitution - Missense 1:11055072-11055072 - HCC112T COSM3704828 c.771G>T p.T257T Substitution - coding silent 1:11055079-11055079 - KM12 COSM1667140 c.275C>T p.P92L Substitution - Missense 1:11059238-11059238 - TCGA-DK-A1A3-01 COSM414187 c.688G>A p.V230M Substitution - Missense 1:11055858-11055858 - YUZINO COSM1686994 c.521C>T p.S174F Substitution - Missense 1:11056618-11056618 - 1517_PT COSM5754131 c.473A>G p.E158G Substitution - Missense 1:11056666-11056666 - sysucc-882T COSM5446881 c.662G>A p.R221Q Substitution - Missense 1:11055884-11055884 - HCC112 COSM3704828 c.771G>T p.T257T Substitution - coding silent 1:11055079-11055079 - TCGA-AP-A059-01 COSM893699 c.385G>A p.V129I Substitution - Missense 1:11056754-11056754 - CSCC-38-T COSM4493877 c.422C>T p.A141V Substitution - Missense 1:11056717-11056717 - T3610 COSM4730022 c.819G>A p.Q273Q Substitution - coding silent 1:11055031-11055031 - TCGA-DG-A2KK-01 COSM4828470 c.434C>T p.S145F Substitution - Missense 1:11056705-11056705 - YUKAT COSM5377161 c.272A>G p.H91R Substitution - Missense 1:11059241-11059241 - WT030 COSM5351928 c.381+5G>A p.? Unknown 1:11058795-11058795 - LUAD-S01467 COSM399383 c.134G>C p.R45P Substitution - Missense 1:11059810-11059810 - TCGA-DA-A1I1-06 COSM3862175 c.744C>T p.F248F Substitution - coding silent 1:11055802-11055802 - ESCC_BICR_055T COSM5436597 c.538C>T p.P180S Substitution - Missense 1:11056092-11056092 - TCGA-D3-A2JF-06 COSM3471100 c.322C>T p.L108L Substitution - coding silent 1:11058859-11058859 -

Mutation - CGAP UNIGENE CYTOBAND OMIM SNP Hs.76244 1p36-p22 182891 1524214|dbSNP|BC000309|A/C|coding|Ala297Ala|947|Validated; 1524214|dbSNP|BC033106|A/C|coding|Ala297Ala|913|Validated

Mutation - IntOGen Mutated from(ref) Mutated to(alt) Consequence Type AA Mutation CDS Mutation Chr Pos Cancer C A Missense p.K134N c.402G>T 1 11116794 BLCA C A Nonsense p.G103* c.307G>T 1 11118931 CM C G Missense p.Q80H c.240G>C 1 11119330 BRCA C T Missense p.A181T c.541G>A 1 11116146 LUAD C T Missense p.V230M c.688G>A 1 11115915 BLCA C T Synonymous p.K253K c.759G>A 1 11115844 BRCA G A Missense p.A294V c.881C>T 1 11115026 LUAD G A Missense p.P138S c.412C>T 1 11116784 STAD G A Synonymous p.F248F c.744C>T 1 11115859 CM G A Synonymous p.L108L c.322C>T 1 11118916 CM G A Synonymous p.P115P c.345C>T 1 11118893 UCEC G C Synonymous p.A286A c.858C>G 1 11115049 CM GG AA 3-UTRBlockSubstitution . c.906+76_906+77delinsTT 1 11114848 CM