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 16 29918291 29918291 + Nonsense_Mutation SNP C C A TCGA-OR-A5JA-01A-11D-A29I-10 TCGA-OR-A5JA-10A-01D-A29L-10 g.chr16:29918291C>A c.892G>T c.(892-894)Gaa>Taa p.E298* BLCA 16 29918373 29918373 + Silent SNP C C T TCGA-FD-A5BX-01A-11D-A26M-08 TCGA-FD-A5BX-10A-01D-A26K-08 g.chr16:29918373C>T c.810G>A c.(808-810)gaG>gaA p.E270E BLCA 16 29918391 29918391 + Silent SNP C C T TCGA-G2-A3IE-01A-11D-A20D-08 TCGA-G2-A3IE-10A-01D-A20D-08 g.chr16:29918391C>T c.792G>A c.(790-792)ctG>ctA p.L264L BLCA 16 29937120 29937120 + Missense_Mutation SNP C C T TCGA-UY-A9PF-01A-11D-A38G-08 TCGA-UY-A9PF-10A-01D-A38J-08 g.chr16:29937120C>T c.235G>A c.(235-237)Gat>Aat p.D79N BLCA 16 29937157 29937157 + Silent SNP G G C TCGA-CF-A47X-01A-31D-A23U-08 TCGA-CF-A47X-10A-01D-A23U-08 g.chr16:29937157G>C c.198C>G c.(196-198)ctC>ctG p.L66L BLCA 16 29937285 29937285 + Missense_Mutation SNP G G A TCGA-K4-A54R-01A-11D-A26M-08 TCGA-K4-A54R-10A-01D-A26K-08 g.chr16:29937285G>A c.70C>T c.(70-72)Ctc>Ttc p.L24F BRCA 16 29937238 29937238 + Silent SNP G G A TCGA-LL-A5YL-01A-12D-A29N-09 TCGA-LL-A5YL-10A-01D-A29N-09 g.chr16:29937238G>A c.117C>T c.(115-117)aaC>aaT p.N39N CESC 16 29922489 29922489 + Missense_Mutation SNP G G A TCGA-DS-A0VM-01A-11D-A10S-08 TCGA-DS-A0VM-10A-01D-A10S-08 g.chr16:29922489G>A c.563C>T c.(562-564)tCa>tTa p.S188L COAD 16 29923364 29923364 + Frame_Shift_Del DEL T T - TCGA-AA-3492-01A-01D-1408-10 TCGA-AA-3492-11A-01D-1408-10 g.chr16:29923364delT c.421delA c.(421-423)aggfs p.R141fs COAD 16 29934513 29934513 + Nonsense_Mutation SNP G G A TCGA-AA-A02O-01A-21W-A096-10 TCGA-AA-A02O-11A-11W-A096-10 g.chr16:29934513G>A c.412C>T c.(412-414)Cag>Tag p.Q138* COAD 16 29937181 29937181 + Silent SNP G G T TCGA-AA-3672-01A-01W-0900-09 TCGA-AA-3672-10A-01W-0900-09 g.chr16:29937181G>T c.174C>A c.(172-174)acC>acA p.T58T COADREAD 16 29923364 29923364 + Frame_Shift_Del DEL T T - TCGA-AA-3492-01A-01D-1408-10 TCGA-AA-3492-11A-01D-1408-10 g.chr16:29923364delT c.421delA c.(421-423)aggfs p.R141fs COADREAD 16 29934513 29934513 + Nonsense_Mutation SNP G G A TCGA-AA-A02O-01A-21W-A096-10 TCGA-AA-A02O-11A-11W-A096-10 g.chr16:29934513G>A c.412C>T c.(412-414)Cag>Tag p.Q138* COADREAD 16 29937181 29937181 + Silent SNP G G T TCGA-AA-3672-01A-01W-0900-09 TCGA-AA-3672-10A-01W-0900-09 g.chr16:29937181G>T c.174C>A c.(172-174)acC>acA p.T58T ESCA 16 29918228 29918228 + Missense_Mutation SNP G G A TCGA-L5-A43J-01A-12D-A247-09 TCGA-L5-A43J-11A-11D-A247-09 g.chr16:29918228G>A c.955C>T c.(955-957)Cgt>Tgt p.R319C HNSC 16 29918258 29918258 + Missense_Mutation SNP G G A TCGA-HD-A6HZ-01A-12D-A31L-08 TCGA-HD-A6HZ-10A-01D-A31J-08 g.chr16:29918258G>A c.925C>T c.(925-927)Cat>Tat p.H309Y HNSC 16 29918300 29918300 + Missense_Mutation SNP C C T TCGA-CV-7095-01A-21D-2012-08 TCGA-CV-7095-10A-01D-2013-08 g.chr16:29918300C>T c.883G>A c.(883-885)Ggg>Agg p.G295R HNSC 16 29923281 29923281 + Splice_Site SNP C C T TCGA-CN-4731-01A-01D-1434-08 TCGA-CN-4731-10A-01D-1434-08 g.chr16:29923281C>T c.504G>A c.(502-504)aaG>aaA p.K168K HNSC 16 29934634 29934634 + Silent SNP G G C TCGA-BA-5152-01A-02D-1870-08 TCGA-BA-5152-10A-01D-1870-08 g.chr16:29934634G>C c.291C>G c.(289-291)ctC>ctG p.L97L HNSC 16 29937220 29937220 + Silent SNP C C T TCGA-CV-7433-01A-11D-2129-08 TCGA-CV-7433-10A-01D-2129-08 g.chr16:29937220C>T c.135G>A c.(133-135)ctG>ctA p.L45L LIHC 16 29922397 29922397 + Frame_Shift_Del DEL C C - TCGA-DD-A1EG-01A-11D-A20W-10 TCGA-DD-A1EG-10A-01D-A20W-10 g.chr16:29922397delC c.655delG c.(655-657)gacfs p.D219fs LIHC 16 29934567 29934567 + Missense_Mutation SNP C C T TCGA-DD-AADA-01A-11D-A40R-10 TCGA-DD-AADA-10A-01D-A40U-10 g.chr16:29934567C>T c.358G>A c.(358-360)Gaa>Aaa p.E120K LUAD 16 29918369 29918369 + Missense_Mutation SNP G G T TCGA-86-8358-01A-11D-2323-08 TCGA-86-8358-10A-01D-2323-08 g.chr16:29918369G>T c.814C>A c.(814-816)Ccc>Acc p.P272T LUAD 16 29934554 29934554 + Missense_Mutation SNP T T G TCGA-91-6828-01A-11D-1855-08 TCGA-91-6828-10A-01D-1855-08 g.chr16:29934554T>G c.371A>C c.(370-372)tAc>tCc p.Y124S LUAD 16 29934567 29934567 + Missense_Mutation SNP C C T TCGA-MN-A4N4-01A-12D-A24P-08 TCGA-MN-A4N4-10A-01D-A24P-08 g.chr16:29934567C>T c.358G>A c.(358-360)Gaa>Aaa p.E120K LUAD 16 29937168 29937168 + Missense_Mutation SNP C C T TCGA-55-8506-01A-11D-2393-08 TCGA-55-8506-10A-01D-2393-08 g.chr16:29937168C>T c.187G>A c.(187-189)Gac>Aac p.D63N LUAD 16 29937290 29937290 + Missense_Mutation SNP G G C TCGA-MP-A4TI-01A-21D-A24P-08 TCGA-MP-A4TI-10A-01D-A24P-08 g.chr16:29937290G>C c.65C>G c.(64-66)tCg>tGg p.S22W LUSC 16 29922394 29922394 + Missense_Mutation SNP C C T TCGA-39-5030-01A-01D-1441-08 TCGA-39-5030-11A-01D-1441-08 g.chr16:29922394C>T c.658G>A c.(658-660)Gag>Aag p.E220K SKCM 16 29918198 29918198 + Missense_Mutation SNP C C T TCGA-GN-A4U4-06A-11D-A32N-08 TCGA-GN-A4U4-10B-01D-A32N-08 g.chr16:29918198C>T c.985G>A c.(985-987)Gac>Aac p.D329N SKCM 16 29922374 29922374 + Silent SNP G G A TCGA-EE-A2GL-06A-11D-A196-08 TCGA-EE-A2GL-10A-01D-A198-08 g.chr16:29922374G>A c.678C>T c.(676-678)ttC>ttT p.F226F SKCM 16 29923186 29923186 + Silent SNP G G A TCGA-EE-A3AD-06A-11D-A196-08 TCGA-EE-A3AD-10A-01D-A198-08 g.chr16:29923186G>A c.507C>T c.(505-507)ccC>ccT p.P169P SKCM 16 29923187 29923187 + Splice_Site SNP G G A TCGA-FS-A1ZW-06A-12D-A197-08 TCGA-FS-A1ZW-10A-01D-A199-08 g.chr16:29923187G>A c.506C>T c.(505-507)cCc>cTc p.P169L SKCM 16 29937338 29937338 + Missense_Mutation SNP G G A TCGA-ER-A19E-06A-11D-A197-08 TCGA-ER-A19E-10A-01D-A199-08 g.chr16:29937338G>A c.17C>T c.(16-18)tCg>tTg p.S6L

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 16 29918391 29918391 single base substitution C T 3_prime_UTR_variant BLCA-US 16 29918391 29918391 single base substitution C T downstream_gene_variant BLCA-US 16 29918391 29918391 single base substitution C T exon_variant BLCA-US 16 29918391 29918391 single base substitution C T intron_variant BLCA-US 16 29918391 29918391 single base substitution C T synonymous_variant L264L 792G>A BRCA-EU 16 29911759 29911759 deletion of <=200bp G - downstream_gene_variant BRCA-EU 16 29911868 29911868 single base substitution C A downstream_gene_variant BRCA-EU 16 29911922 29911922 single base substitution G C downstream_gene_variant BRCA-EU 16 29912397 29912397 single base substitution G C downstream_gene_variant BRCA-EU 16 29913295 29913295 single base substitution G A downstream_gene_variant BRCA-EU 16 29913875 29913875 single base substitution C T downstream_gene_variant BRCA-EU 16 29914452 29914452 single base substitution G A downstream_gene_variant BRCA-EU 16 29914853 29914853 single base substitution A G downstream_gene_variant BRCA-EU 16 29916309 29916309 deletion of <=200bp G - downstream_gene_variant BRCA-EU 16 29917153 29917153 single base substitution T A downstream_gene_variant BRCA-EU 16 29917153 29917153 single base substitution T A intron_variant BRCA-EU 16 29918373 29918373 single base substitution C T 3_prime_UTR_variant BRCA-EU 16 29918373 29918373 single base substitution C T downstream_gene_variant BRCA-EU 16 29918373 29918373 single base substitution C T exon_variant BRCA-EU 16 29918373 29918373 single base substitution C T intron_variant BRCA-EU 16 29918373 29918373 single base substitution C T synonymous_variant E270E 810G>A BRCA-EU 16 29918379 29918379 single base substitution G C 3_prime_UTR_variant BRCA-EU 16 29918379 29918379 single base substitution G C downstream_gene_variant BRCA-EU 16 29918379 29918379 single base substitution G C exon_variant BRCA-EU 16 29918379 29918379 single base substitution G C intron_variant BRCA-EU 16 29918379 29918379 single base substitution G C missense_variant I268M 804C>G BRCA-EU 16 29918721 29918721 single base substitution G T downstream_gene_variant BRCA-EU 16 29918721 29918721 single base substitution G T intron_variant BRCA-EU 16 29919322 29919322 single base substitution G C downstream_gene_variant BRCA-EU 16 29919322 29919322 single base substitution G C intron_variant BRCA-EU 16 29919412 29919412 single base substitution C T downstream_gene_variant BRCA-EU 16 29919412 29919412 single base substitution C T intron_variant BRCA-EU 16 29922991 29922991 single base substitution C T 3_prime_UTR_variant BRCA-EU 16 29922991 29922991 single base substitution C T intron_variant BRCA-EU 16 29923774 29923774 deletion of <=200bp T - intron_variant BRCA-EU 16 29923774 29923774 deletion of <=200bp T - upstream_gene_variant BRCA-EU 16 29928910 29928910 single base substitution G C downstream_gene_variant BRCA-EU 16 29928910 29928910 single base substitution G C intron_variant BRCA-EU 16 29929239 29929239 insertion of <=200bp - AG downstream_gene_variant BRCA-EU 16 29929239 29929239 insertion of <=200bp - AG intron_variant BRCA-EU 16 29930261 29930261 single base substitution G C downstream_gene_variant BRCA-EU 16 29930261 29930261 single base substitution G C intron_variant BRCA-EU 16 29930760 29930760 single base substitution C T downstream_gene_variant BRCA-EU 16 29930760 29930760 single base substitution C T intron_variant BRCA-EU 16 29934600 29934600 single base substitution C T exon_variant BRCA-EU 16 29934600 29934600 single base substitution C T missense_variant E109K 325G>A BRCA-EU 16 29934600 29934600 single base substitution C T missense_variant E14K 40G>A BRCA-EU 16 29934600 29934600 single base substitution C T upstream_gene_variant BRCA-EU 16 29937241 29937241 single base substitution C T exon_variant BRCA-EU 16 29937241 29937241 single base substitution C T synonymous_variant P38P 114G>A BRCA-EU 16 29937241 29937241 single base substitution C T upstream_gene_variant BRCA-EU 16 29939014 29939014 single base substitution G C upstream_gene_variant BRCA-EU 16 29939019 29939019 deletion of <=200bp T - upstream_gene_variant BRCA-EU 16 29940382 29940382 single base substitution C T upstream_gene_variant BRCA-EU 16 29941062 29941062 single base substitution G A upstream_gene_variant BRCA-FR 16 29913175 29913175 single base substitution C G downstream_gene_variant BRCA-FR 16 29937241 29937241 single base substitution C T exon_variant BRCA-FR 16 29937241 29937241 single base substitution C T synonymous_variant P38P 114G>A BRCA-FR 16 29937241 29937241 single base substitution C T upstream_gene_variant BRCA-FR 16 29941235 29941235 single base substitution T G upstream_gene_variant BRCA-UK 16 29911922 29911922 single base substitution G C downstream_gene_variant BRCA-UK 16 29927085 29927085 single base substitution C G downstream_gene_variant BRCA-UK 16 29927085 29927085 single base substitution C G intron_variant BRCA-UK 16 29927085 29927085 single base substitution C G upstream_gene_variant BRCA-UK 16 29931720 29931720 single base substitution T G downstream_gene_variant BRCA-UK 16 29931720 29931720 single base substitution T G intron_variant BRCA-UK 16 29934600 29934600 single base substitution C T exon_variant BRCA-UK 16 29934600 29934600 single base substitution C T missense_variant E109K 325G>A BRCA-UK 16 29934600 29934600 single base substitution C T missense_variant E14K 40G>A BRCA-UK 16 29934600 29934600 single base substitution C T upstream_gene_variant BRCA-US 16 29913171 29913171 single base substitution C T downstream_gene_variant BRCA-US 16 29937238 29937238 single base substitution G A exon_variant BRCA-US 16 29937238 29937238 single base substitution G A synonymous_variant N39N 117C>T BRCA-US 16 29937238 29937238 single base substitution G A upstream_gene_variant BTCA-JP 16 29917069 29917069 deletion of <=200bp A - downstream_gene_variant BTCA-JP 16 29917069 29917069 deletion of <=200bp A - intron_variant BTCA-JP 16 29917125 29917125 single base substitution G A downstream_gene_variant BTCA-JP 16 29917125 29917125 single base substitution G A intron_variant BTCA-JP 16 29918034 29918034 single base substitution T C 3_prime_UTR_variant BTCA-JP 16 29918034 29918034 single base substitution T C downstream_gene_variant BTCA-JP 16 29918034 29918034 single base substitution T C intron_variant BTCA-JP 16 29922308 29922310 deletion of <=200bp CTT - 3_prime_UTR_variant BTCA-JP 16 29922308 29922310 deletion of <=200bp CTT - downstream_gene_variant BTCA-JP 16 29922308 29922310 deletion of <=200bp CTT - exon_variant BTCA-JP 16 29922308 29922310 deletion of <=200bp CTT - inframe_deletion K126 BTCA-JP 16 29922308 29922310 deletion of <=200bp CTT - inframe_deletion K248 BTCA-JP 16 29934776 29934776 single base substitution C G intron_variant BTCA-JP 16 29934776 29934776 single base substitution C G upstream_gene_variant CESC-US 16 29912347 29912347 single base substitution G C downstream_gene_variant CESC-US 16 29912882 29912882 single base substitution C T downstream_gene_variant CESC-US 16 29913117 29913117 single base substitution G T downstream_gene_variant CESC-US 16 29922489 29922489 single base substitution G A 3_prime_UTR_variant CESC-US 16 29922489 29922489 single base substitution G A downstream_gene_variant CESC-US 16 29922489 29922489 single base substitution G A exon_variant CESC-US 16 29922489 29922489 single base substitution G A missense_variant S188L 563C>T CESC-US 16 29922489 29922489 single base substitution G A missense_variant S66L 197C>T CLLE-ES 16 29913202 29913202 single base substitution C T downstream_gene_variant CLLE-ES 16 29926603 29926603 single base substitution A G downstream_gene_variant CLLE-ES 16 29926603 29926603 single base substitution A G intron_variant CLLE-ES 16 29926603 29926603 single base substitution A G upstream_gene_variant COAD-US 16 29912660 29912660 single base substitution C T downstream_gene_variant COAD-US 16 29912744 29912744 single base substitution G A downstream_gene_variant COAD-US 16 29912802 29912802 insertion of <=200bp - GGT downstream_gene_variant COAD-US 16 29917164 29917164 single base substitution C T downstream_gene_variant COAD-US 16 29917164 29917164 single base substitution C T intron_variant COAD-US 16 29923364 29923364 deletion of <=200bp T - exon_variant COAD-US 16 29923364 29923364 deletion of <=200bp T - frameshift_variant R141 COAD-US 16 29923364 29923364 deletion of <=200bp T - frameshift_variant R19 COCA-CN 16 29912293 29912293 single base substitution A G downstream_gene_variant COCA-CN 16 29916975 29916975 single base substitution G A downstream_gene_variant COCA-CN 16 29916975 29916975 single base substitution G A intron_variant COCA-CN 16 29916982 29916982 single base substitution T A downstream_gene_variant COCA-CN 16 29916982 29916982 single base substitution T A intron_variant COCA-CN 16 29917203 29917203 single base substitution C T downstream_gene_variant COCA-CN 16 29917203 29917203 single base substitution C T intron_variant COCA-CN 16 29922427 29922427 single base substitution G A 3_prime_UTR_variant COCA-CN 16 29922427 29922427 single base substitution G A downstream_gene_variant COCA-CN 16 29922427 29922427 single base substitution G A exon_variant COCA-CN 16 29922427 29922427 single base substitution G A missense_variant R209W 625C>T COCA-CN 16 29922427 29922427 single base substitution G A missense_variant R87W 259C>T COCA-CN 16 29923210 29923210 single base substitution A G intron_variant ESAD-UK 16 29911510 29911510 single base substitution T G downstream_gene_variant ESAD-UK 16 29913092 29913092 single base substitution G A downstream_gene_variant ESAD-UK 16 29917966 29917966 single base substitution G T 3_prime_UTR_variant ESAD-UK 16 29917966 29917966 single base substitution G T downstream_gene_variant ESAD-UK 16 29917966 29917966 single base substitution G T intron_variant ESAD-UK 16 29921002 29921002 single base substitution A G downstream_gene_variant ESAD-UK 16 29921002 29921002 single base substitution A G intron_variant ESAD-UK 16 29922654 29922654 single base substitution C A 3_prime_UTR_variant ESAD-UK 16 29922654 29922654 single base substitution C A downstream_gene_variant ESAD-UK 16 29922654 29922654 single base substitution C A intron_variant ESAD-UK 16 29922672 29922672 single base substitution T A 3_prime_UTR_variant ESAD-UK 16 29922672 29922672 single base substitution T A downstream_gene_variant ESAD-UK 16 29922672 29922672 single base substitution T A intron_variant ESAD-UK 16 29923415 29923415 single base substitution C T exon_variant ESAD-UK 16 29923415 29923415 single base substitution C T intron_variant ESAD-UK 16 29924261 29924261 single base substitution A C intron_variant ESAD-UK 16 29924261 29924261 single base substitution A C upstream_gene_variant ESAD-UK 16 29926963 29926963 single base substitution A T downstream_gene_variant ESAD-UK 16 29926963 29926963 single base substitution A T intron_variant ESAD-UK 16 29926963 29926963 single base substitution A T upstream_gene_variant ESAD-UK 16 29927664 29927664 single base substitution C T downstream_gene_variant ESAD-UK 16 29927664 29927664 single base substitution C T intron_variant ESAD-UK 16 29927664 29927664 single base substitution C T upstream_gene_variant ESAD-UK 16 29933532 29933532 single base substitution A C 3_prime_UTR_variant ESAD-UK 16 29933532 29933532 single base substitution A C downstream_gene_variant ESAD-UK 16 29933532 29933532 single base substitution A C intron_variant ESAD-UK 16 29933602 29933603 deletion of <=200bp CT - 3_prime_UTR_variant ESAD-UK 16 29933602 29933603 deletion of <=200bp CT - downstream_gene_variant ESAD-UK 16 29933602 29933603 deletion of <=200bp CT - intron_variant ESAD-UK 16 29934754 29934754 single base substitution T A intron_variant ESAD-UK 16 29934754 29934754 single base substitution T A upstream_gene_variant ESAD-UK 16 29934756 29934756 single base substitution T G intron_variant ESAD-UK 16 29934756 29934756 single base substitution T G upstream_gene_variant ESAD-UK 16 29939762 29939762 single base substitution G A upstream_gene_variant ESAD-UK 16 29940612 29940612 single base substitution A T upstream_gene_variant ESAD-UK 16 29942725 29942725 single base substitution A T upstream_gene_variant ESCA-CN 16 29918477 29918477 single base substitution G A downstream_gene_variant ESCA-CN 16 29918477 29918477 single base substitution G A intron_variant LICA-FR 16 29912803 29912803 insertion of <=200bp - GGT downstream_gene_variant LICA-FR 16 29934543 29934543 single base substitution C T downstream_gene_variant LICA-FR 16 29934543 29934543 single base substitution C T exon_variant LICA-FR 16 29934543 29934543 single base substitution C T missense_variant G128S 382G>A LICA-FR 16 29934543 29934543 single base substitution C T missense_variant G33S 97G>A LICA-FR 16 29934543 29934543 single base substitution C T missense_variant G6S 16G>A LICA-FR 16 29934676 29934676 single base substitution C T exon_variant LICA-FR 16 29934676 29934676 single base substitution C T stop_gained W83* 249G>A LICA-FR 16 29934676 29934676 single base substitution C T upstream_gene_variant LIHC-US 16 29912566 29912566 single base substitution C T downstream_gene_variant LINC-JP 16 29912316 29912316 single base substitution C T downstream_gene_variant LINC-JP 16 29934819 29934819 single base substitution C T intron_variant LINC-JP 16 29934819 29934819 single base substitution C T upstream_gene_variant LIRI-JP 16 29914087 29914087 single base substitution C A downstream_gene_variant LIRI-JP 16 29916047 29916050 deletion of <=200bp GAAA - downstream_gene_variant LIRI-JP 16 29916255 29916255 single base substitution C T downstream_gene_variant LIRI-JP 16 29917545 29917545 single base substitution T A downstream_gene_variant LIRI-JP 16 29917545 29917545 single base substitution T A intron_variant LIRI-JP 16 29919472 29919472 single base substitution C T downstream_gene_variant LIRI-JP 16 29919472 29919472 single base substitution C T intron_variant LIRI-JP 16 29919619 29919619 single base substitution C T downstream_gene_variant LIRI-JP 16 29919619 29919619 single base substitution C T intron_variant LIRI-JP 16 29920332 29920332 single base substitution C G downstream_gene_variant LIRI-JP 16 29920332 29920332 single base substitution C G intron_variant LIRI-JP 16 29920395 29920395 single base substitution A G downstream_gene_variant LIRI-JP 16 29920395 29920395 single base substitution A G intron_variant LIRI-JP 16 29928367 29928367 single base substitution T A downstream_gene_variant LIRI-JP 16 29928367 29928367 single base substitution T A intron_variant LIRI-JP 16 29928367 29928367 single base substitution T A upstream_gene_variant LIRI-JP 16 29930767 29930767 single base substitution T C downstream_gene_variant LIRI-JP 16 29930767 29930767 single base substitution T C intron_variant LIRI-JP 16 29931042 29931042 single base substitution A G downstream_gene_variant LIRI-JP 16 29931042 29931042 single base substitution A G intron_variant LIRI-JP 16 29935868 29935868 single base substitution T C intron_variant LIRI-JP 16 29935868 29935868 single base substitution T C upstream_gene_variant LIRI-JP 16 29938344 29938344 single base substitution A G 5_prime_UTR_variant LIRI-JP 16 29938344 29938344 single base substitution A G upstream_gene_variant LIRI-JP 16 29939235 29939235 single base substitution A G upstream_gene_variant LIRI-JP 16 29940438 29940438 single base substitution C T upstream_gene_variant LIRI-JP 16 29941167 29941167 single base substitution G T upstream_gene_variant LIRI-JP 16 29942161 29942161 single base substitution G T upstream_gene_variant LUSC-KR 16 29912252 29912252 single base substitution A T downstream_gene_variant LUSC-KR 16 29916777 29916777 single base substitution T A downstream_gene_variant LUSC-KR 16 29916777 29916777 single base substitution T A intron_variant LUSC-KR 16 29917488 29917488 single base substitution A T downstream_gene_variant LUSC-KR 16 29917488 29917488 single base substitution A T intron_variant LUSC-KR 16 29921586 29921586 single base substitution G A downstream_gene_variant LUSC-KR 16 29921586 29921586 single base substitution G A intron_variant LUSC-KR 16 29926708 29926708 single base substitution C T downstream_gene_variant LUSC-KR 16 29926708 29926708 single base substitution C T intron_variant LUSC-KR 16 29926708 29926708 single base substitution C T upstream_gene_variant LUSC-KR 16 29933581 29933581 single base substitution T C 3_prime_UTR_variant LUSC-KR 16 29933581 29933581 single base substitution T C downstream_gene_variant LUSC-KR 16 29933581 29933581 single base substitution T C intron_variant LUSC-US 16 29917137 29917137 single base substitution C A downstream_gene_variant LUSC-US 16 29917137 29917137 single base substitution C A intron_variant LUSC-US 16 29922394 29922394 single base substitution C T 3_prime_UTR_variant LUSC-US 16 29922394 29922394 single base substitution C T downstream_gene_variant LUSC-US 16 29922394 29922394 single base substitution C T exon_variant LUSC-US 16 29922394 29922394 single base substitution C T missense_variant E220K 658G>A LUSC-US 16 29922394 29922394 single base substitution C T missense_variant E98K 292G>A MALY-DE 16 29914687 29914687 insertion of <=200bp - A downstream_gene_variant MALY-DE 16 29915558 29915558 single base substitution G T downstream_gene_variant MALY-DE 16 29924692 29924692 single base substitution C T intron_variant MALY-DE 16 29924692 29924692 single base substitution C T upstream_gene_variant MALY-DE 16 29926851 29926851 single base substitution T A downstream_gene_variant MALY-DE 16 29926851 29926851 single base substitution T A intron_variant MALY-DE 16 29926851 29926851 single base substitution T A upstream_gene_variant MALY-DE 16 29931938 29931938 insertion of <=200bp - A downstream_gene_variant MALY-DE 16 29931938 29931938 insertion of <=200bp - A intron_variant MALY-DE 16 29933698 29933698 single base substitution G T 3_prime_UTR_variant MALY-DE 16 29933698 29933698 single base substitution G T downstream_gene_variant MALY-DE 16 29933698 29933698 single base substitution G T intron_variant MALY-DE 16 29937687 29937687 single base substitution G C 5_prime_UTR_variant MALY-DE 16 29937687 29937687 single base substitution G C upstream_gene_variant MALY-DE 16 29942821 29942821 single base substitution G A upstream_gene_variant MELA-AU 16 29912629 29912629 single base substitution G A downstream_gene_variant MELA-AU 16 29912775 29912775 single base substitution G A downstream_gene_variant MELA-AU 16 29912822 29912822 single base substitution G A downstream_gene_variant MELA-AU 16 29912865 29912865 single base substitution C T downstream_gene_variant MELA-AU 16 29913105 29913105 single base substitution C T downstream_gene_variant MELA-AU 16 29913128 29913128 single base substitution G A downstream_gene_variant MELA-AU 16 29913892 29913892 single base substitution G A downstream_gene_variant MELA-AU 16 29914063 29914063 single base substitution C T downstream_gene_variant MELA-AU 16 29914124 29914124 single base substitution C T downstream_gene_variant MELA-AU 16 29914129 29914129 single base substitution C T downstream_gene_variant MELA-AU 16 29914323 29914323 single base substitution C T downstream_gene_variant MELA-AU 16 29914552 29914552 single base substitution C T downstream_gene_variant MELA-AU 16 29915059 29915059 single base substitution C T downstream_gene_variant MELA-AU 16 29915909 29915909 single base substitution G A downstream_gene_variant MELA-AU 16 29915913 29915913 single base substitution G A downstream_gene_variant MELA-AU 16 29916055 29916056 multiple base substitution (>=2bp and <=200bp) GG AA downstream_gene_variant MELA-AU 16 29917074 29917074 single base substitution C T downstream_gene_variant MELA-AU 16 29917074 29917074 single base substitution C T intron_variant MELA-AU 16 29918032 29918032 single base substitution G A 3_prime_UTR_variant MELA-AU 16 29918032 29918032 single base substitution G A downstream_gene_variant MELA-AU 16 29918032 29918032 single base substitution G A intron_variant MELA-AU 16 29918147 29918147 single base substitution G A 3_prime_UTR_variant MELA-AU 16 29918147 29918147 single base substitution G A downstream_gene_variant MELA-AU 16 29918147 29918147 single base substitution G A intron_variant MELA-AU 16 29920881 29920881 single base substitution C T downstream_gene_variant MELA-AU 16 29920881 29920881 single base substitution C T intron_variant MELA-AU 16 29921556 29921556 single base substitution T G downstream_gene_variant MELA-AU 16 29921556 29921556 single base substitution T G intron_variant MELA-AU 16 29921922 29921922 single base substitution C T downstream_gene_variant MELA-AU 16 29921922 29921922 single base substitution C T intron_variant MELA-AU 16 29922222 29922222 single base substitution C T downstream_gene_variant MELA-AU 16 29922222 29922222 single base substitution C T intron_variant MELA-AU 16 29922259 29922259 single base substitution C G downstream_gene_variant MELA-AU 16 29922259 29922259 single base substitution C G intron_variant MELA-AU 16 29923319 29923319 single base substitution G A exon_variant MELA-AU 16 29923319 29923319 single base substitution G A missense_variant P156S 466C>T MELA-AU 16 29923319 29923319 single base substitution G A missense_variant P34S 100C>T MELA-AU 16 29923321 29923321 single base substitution G T exon_variant MELA-AU 16 29923321 29923321 single base substitution G T missense_variant S155Y 464C>A MELA-AU 16 29923321 29923321 single base substitution G T missense_variant S33Y 98C>A MELA-AU 16 29924658 29924658 single base substitution C T intron_variant MELA-AU 16 29924658 29924658 single base substitution C T upstream_gene_variant MELA-AU 16 29924824 29924824 single base substitution G A intron_variant MELA-AU 16 29924824 29924824 single base substitution G A upstream_gene_variant MELA-AU 16 29925490 29925490 single base substitution C T intron_variant MELA-AU 16 29925490 29925490 single base substitution C T upstream_gene_variant MELA-AU 16 29925528 29925528 single base substitution G A intron_variant MELA-AU 16 29925528 29925528 single base substitution G A upstream_gene_variant MELA-AU 16 29925529 29925530 multiple base substitution (>=2bp and <=200bp) GG TA intron_variant MELA-AU 16 29925529 29925530 multiple base substitution (>=2bp and <=200bp) GG TA upstream_gene_variant MELA-AU 16 29926184 29926184 single base substitution C T downstream_gene_variant MELA-AU 16 29926184 29926184 single base substitution C T intron_variant MELA-AU 16 29926184 29926184 single base substitution C T upstream_gene_variant MELA-AU 16 29926373 29926373 single base substitution C T downstream_gene_variant MELA-AU 16 29926373 29926373 single base substitution C T intron_variant MELA-AU 16 29926373 29926373 single base substitution C T upstream_gene_variant MELA-AU 16 29926979 29926979 single base substitution C T downstream_gene_variant MELA-AU 16 29926979 29926979 single base substitution C T intron_variant MELA-AU 16 29926979 29926979 single base substitution C T upstream_gene_variant MELA-AU 16 29928015 29928016 multiple base substitution (>=2bp and <=200bp) TC CT downstream_gene_variant MELA-AU 16 29928015 29928016 multiple base substitution (>=2bp and <=200bp) TC CT intron_variant MELA-AU 16 29928015 29928016 multiple base substitution (>=2bp and <=200bp) TC CT upstream_gene_variant MELA-AU 16 29928220 29928220 single base substitution G A downstream_gene_variant MELA-AU 16 29928220 29928220 single base substitution G A intron_variant MELA-AU 16 29928220 29928220 single base substitution G A upstream_gene_variant MELA-AU 16 29929454 29929454 single base substitution G A downstream_gene_variant MELA-AU 16 29929454 29929454 single base substitution G A intron_variant MELA-AU 16 29929598 29929598 single base substitution G A downstream_gene_variant MELA-AU 16 29929598 29929598 single base substitution G A intron_variant MELA-AU 16 29929645 29929645 single base substitution G A downstream_gene_variant MELA-AU 16 29929645 29929645 single base substitution G A intron_variant MELA-AU 16 29930264 29930264 single base substitution C T downstream_gene_variant MELA-AU 16 29930264 29930264 single base substitution C T intron_variant MELA-AU 16 29930517 29930517 single base substitution G A downstream_gene_variant MELA-AU 16 29930517 29930517 single base substitution G A intron_variant MELA-AU 16 29931489 29931489 single base substitution G A downstream_gene_variant MELA-AU 16 29931489 29931489 single base substitution G A intron_variant MELA-AU 16 29932744 29932744 single base substitution A G downstream_gene_variant MELA-AU 16 29932744 29932744 single base substitution A G intron_variant MELA-AU 16 29934008 29934008 single base substitution G A 3_prime_UTR_variant MELA-AU 16 29934008 29934008 single base substitution G A downstream_gene_variant MELA-AU 16 29934008 29934008 single base substitution G A intron_variant MELA-AU 16 29934013 29934013 single base substitution C T 3_prime_UTR_variant MELA-AU 16 29934013 29934013 single base substitution C T downstream_gene_variant MELA-AU 16 29934013 29934013 single base substitution C T intron_variant MELA-AU 16 29934478 29934478 single base substitution G A downstream_gene_variant MELA-AU 16 29934478 29934478 single base substitution G A intron_variant MELA-AU 16 29934478 29934478 single base substitution G A synonymous_variant F149F 447C>T MELA-AU 16 29934490 29934490 single base substitution G A downstream_gene_variant MELA-AU 16 29934490 29934490 single base substitution G A intron_variant MELA-AU 16 29934490 29934490 single base substitution G A synonymous_variant P145P 435C>T MELA-AU 16 29934705 29934705 single base substitution G A intron_variant MELA-AU 16 29934705 29934705 single base substitution G A upstream_gene_variant MELA-AU 16 29935952 29935952 single base substitution G A intron_variant MELA-AU 16 29935952 29935952 single base substitution G A upstream_gene_variant MELA-AU 16 29936477 29936477 single base substitution G A intron_variant MELA-AU 16 29936477 29936477 single base substitution G A upstream_gene_variant MELA-AU 16 29937080 29937080 single base substitution G A intron_variant MELA-AU 16 29937080 29937080 single base substitution G A upstream_gene_variant MELA-AU 16 29937528 29937528 single base substitution G A 5_prime_UTR_variant MELA-AU 16 29937528 29937528 single base substitution G A exon_variant MELA-AU 16 29937528 29937528 single base substitution G A upstream_gene_variant MELA-AU 16 29939188 29939188 single base substitution C T upstream_gene_variant MELA-AU 16 29940537 29940537 single base substitution C T upstream_gene_variant MELA-AU 16 29940639 29940639 single base substitution C T upstream_gene_variant MELA-AU 16 29940876 29940876 single base substitution G A upstream_gene_variant MELA-AU 16 29941125 29941125 single base substitution G A upstream_gene_variant MELA-AU 16 29941186 29941186 single base substitution C T upstream_gene_variant MELA-AU 16 29941774 29941774 single base substitution T C upstream_gene_variant MELA-AU 16 29941787 29941787 single base substitution C T upstream_gene_variant MELA-AU 16 29941862 29941862 single base substitution C T upstream_gene_variant MELA-AU 16 29941971 29941971 single base substitution C T upstream_gene_variant MELA-AU 16 29942011 29942011 single base substitution G A upstream_gene_variant MELA-AU 16 29942304 29942304 single base substitution C T upstream_gene_variant MELA-AU 16 29942594 29942594 single base substitution T C upstream_gene_variant MELA-AU 16 29942707 29942707 single base substitution T A upstream_gene_variant MELA-AU 16 29942720 29942720 single base substitution C T upstream_gene_variant ORCA-IN 16 29912501 29912501 single base substitution C T downstream_gene_variant ORCA-IN 16 29918267 29918267 single base substitution G A 3_prime_UTR_variant ORCA-IN 16 29918267 29918267 single base substitution G A downstream_gene_variant ORCA-IN 16 29918267 29918267 single base substitution G A exon_variant ORCA-IN 16 29918267 29918267 single base substitution G A intron_variant ORCA-IN 16 29918267 29918267 single base substitution G A missense_variant R306C 916C>T ORCA-IN 16 29933817 29933817 single base substitution G C 3_prime_UTR_variant ORCA-IN 16 29933817 29933817 single base substitution G C downstream_gene_variant ORCA-IN 16 29933817 29933817 single base substitution G C intron_variant ORCA-IN 16 29935505 29935505 deletion of <=200bp G - intron_variant ORCA-IN 16 29935505 29935505 deletion of <=200bp G - upstream_gene_variant ORCA-IN 16 29941259 29941259 deletion of <=200bp G - upstream_gene_variant OV-AU 16 29930843 29930843 single base substitution A C downstream_gene_variant OV-AU 16 29930843 29930843 single base substitution A C intron_variant OV-AU 16 29930843 29930843 single base substitution A C stop_lost *81E 241T>G OV-AU 16 29933121 29933121 single base substitution T C downstream_gene_variant OV-AU 16 29933121 29933121 single base substitution T C intron_variant OV-AU 16 29935758 29935758 single base substitution T C intron_variant OV-AU 16 29935758 29935758 single base substitution T C upstream_gene_variant OV-AU 16 29942940 29942940 single base substitution T C upstream_gene_variant PACA-AU 16 29912291 29912303 deletion of <=200bp GCATGAAGGAGGG - downstream_gene_variant PACA-AU 16 29918767 29918767 single base substitution C T downstream_gene_variant PACA-AU 16 29918767 29918767 single base substitution C T intron_variant PACA-AU 16 29925308 29925308 single base substitution G A intron_variant PACA-AU 16 29925308 29925308 single base substitution G A upstream_gene_variant PACA-AU 16 29930597 29930597 single base substitution T C downstream_gene_variant PACA-AU 16 29930597 29930597 single base substitution T C intron_variant PACA-AU 16 29935067 29935067 single base substitution G C intron_variant PACA-AU 16 29935067 29935067 single base substitution G C upstream_gene_variant PACA-AU 16 29937907 29937927 deletion of <=200bp CTTAAAGGAGGCCAAAGCGGC - 5_prime_UTR_variant PACA-AU 16 29937907 29937927 deletion of <=200bp CTTAAAGGAGGCCAAAGCGGC - upstream_gene_variant PACA-CA 16 29912341 29912342 deletion of <=200bp GA - downstream_gene_variant PACA-CA 16 29912660 29912660 single base substitution C T downstream_gene_variant PACA-CA 16 29914435 29914435 single base substitution G T downstream_gene_variant PACA-CA 16 29917100 29917100 single base substitution G A downstream_gene_variant PACA-CA 16 29917100 29917100 single base substitution G A intron_variant PACA-CA 16 29917272 29917272 single base substitution G A downstream_gene_variant PACA-CA 16 29917272 29917272 single base substitution G A intron_variant PACA-CA 16 29919312 29919312 insertion of <=200bp - G downstream_gene_variant PACA-CA 16 29919312 29919312 insertion of <=200bp - G intron_variant PACA-CA 16 29919830 29919830 single base substitution C T downstream_gene_variant PACA-CA 16 29919830 29919830 single base substitution C T intron_variant PACA-CA 16 29922106 29922106 single base substitution C T downstream_gene_variant PACA-CA 16 29922106 29922106 single base substitution C T intron_variant PACA-CA 16 29929489 29929489 single base substitution A C downstream_gene_variant PACA-CA 16 29929489 29929489 single base substitution A C intron_variant PACA-CA 16 29935895 29935895 single base substitution T C intron_variant PACA-CA 16 29935895 29935895 single base substitution T C upstream_gene_variant PACA-CA 16 29936818 29936818 single base substitution G T intron_variant PACA-CA 16 29936818 29936818 single base substitution G T upstream_gene_variant PACA-CA 16 29938865 29938865 single base substitution A C upstream_gene_variant PACA-CA 16 29940923 29940923 single base substitution A G upstream_gene_variant PACA-CA 16 29941983 29941983 single base substitution A G upstream_gene_variant PACA-CA 16 29942177 29942177 single base substitution A G upstream_gene_variant PAEN-AU 16 29939741 29939741 single base substitution T C upstream_gene_variant PBCA-DE 16 29911759 29911759 insertion of <=200bp - GG downstream_gene_variant PBCA-DE 16 29920887 29920887 single base substitution G A downstream_gene_variant PBCA-DE 16 29920887 29920887 single base substitution G A intron_variant PBCA-DE 16 29924274 29924274 insertion of <=200bp - A intron_variant PBCA-DE 16 29924274 29924274 insertion of <=200bp - A upstream_gene_variant PBCA-DE 16 29935066 29935066 insertion of <=200bp - G intron_variant PBCA-DE 16 29935066 29935066 insertion of <=200bp - G upstream_gene_variant PRAD-CA 16 29926130 29926130 single base substitution G C downstream_gene_variant PRAD-CA 16 29926130 29926130 single base substitution G C intron_variant PRAD-CA 16 29926130 29926130 single base substitution G C upstream_gene_variant PRAD-CA 16 29929015 29929015 single base substitution G A downstream_gene_variant PRAD-CA 16 29929015 29929015 single base substitution G A intron_variant PRAD-CA 16 29940567 29940567 single base substitution C T upstream_gene_variant PRAD-CA 16 29941471 29941471 single base substitution T C upstream_gene_variant READ-US 16 29912629 29912629 deletion of <=200bp G - downstream_gene_variant READ-US 16 29913063 29913063 single base substitution A T downstream_gene_variant RECA-EU 16 29912345 29912345 single base substitution G T downstream_gene_variant SKCA-BR 16 29912705 29912705 single base substitution A G downstream_gene_variant SKCA-BR 16 29912801 29912801 insertion of <=200bp - AGGG downstream_gene_variant SKCA-BR 16 29912802 29912802 insertion of <=200bp - GGGT downstream_gene_variant SKCA-BR 16 29912944 29912944 single base substitution C T downstream_gene_variant SKCA-BR 16 29914203 29914204 deletion of <=200bp TC - downstream_gene_variant SKCA-BR 16 29914204 29914204 single base substitution C T downstream_gene_variant SKCA-BR 16 29915765 29915765 insertion of <=200bp - CA downstream_gene_variant SKCA-BR 16 29923199 29923199 single base substitution A G intron_variant SKCA-BR 16 29924893 29924893 single base substitution T G intron_variant SKCA-BR 16 29924893 29924893 single base substitution T G upstream_gene_variant SKCA-BR 16 29926926 29926926 insertion of <=200bp - CA downstream_gene_variant SKCA-BR 16 29926926 29926926 insertion of <=200bp - CA intron_variant SKCA-BR 16 29926926 29926926 insertion of <=200bp - CA upstream_gene_variant SKCA-BR 16 29929638 29929638 single base substitution A G downstream_gene_variant SKCA-BR 16 29929638 29929638 single base substitution A G intron_variant SKCA-BR 16 29935156 29935156 single base substitution T A intron_variant SKCA-BR 16 29935156 29935156 single base substitution T A upstream_gene_variant SKCA-BR 16 29937528 29937528 single base substitution G A 5_prime_UTR_variant SKCA-BR 16 29937528 29937528 single base substitution G A exon_variant SKCA-BR 16 29937528 29937528 single base substitution G A upstream_gene_variant SKCA-BR 16 29940285 29940285 insertion of <=200bp - AT upstream_gene_variant SKCA-BR 16 29940613 29940613 insertion of <=200bp - TA upstream_gene_variant SKCA-BR 16 29941806 29941806 single base substitution C T upstream_gene_variant SKCA-BR 16 29943080 29943080 single base substitution A C upstream_gene_variant SKCM-US 16 29912638 29912638 single base substitution C T downstream_gene_variant SKCM-US 16 29912768 29912768 single base substitution G A downstream_gene_variant SKCM-US 16 29912865 29912865 single base substitution C T downstream_gene_variant SKCM-US 16 29912928 29912928 single base substitution C T downstream_gene_variant SKCM-US 16 29913002 29913002 single base substitution C T downstream_gene_variant SKCM-US 16 29913023 29913023 single base substitution C T downstream_gene_variant SKCM-US 16 29913068 29913068 single base substitution G A downstream_gene_variant SKCM-US 16 29913155 29913155 single base substitution G A downstream_gene_variant SKCM-US 16 29913198 29913198 single base substitution G A downstream_gene_variant SKCM-US 16 29922374 29922374 single base substitution G A 3_prime_UTR_variant SKCM-US 16 29922374 29922374 single base substitution G A downstream_gene_variant SKCM-US 16 29922374 29922374 single base substitution G A exon_variant SKCM-US 16 29922374 29922374 single base substitution G A synonymous_variant F104F 312C>T SKCM-US 16 29922374 29922374 single base substitution G A synonymous_variant F226F 678C>T SKCM-US 16 29923186 29923186 single base substitution G A splice_region_variant SKCM-US 16 29923187 29923187 single base substitution G A missense_variant P169L 506C>T SKCM-US 16 29923187 29923187 single base substitution G A missense_variant P47L 140C>T SKCM-US 16 29923187 29923187 single base substitution G A splice_region_variant SKCM-US 16 29937338 29937338 single base substitution G A exon_variant SKCM-US 16 29937338 29937338 single base substitution G A missense_variant S6L 17C>T SKCM-US 16 29937338 29937338 single base substitution G A upstream_gene_variant STAD-US 16 29912627 29912627 insertion of <=200bp - T downstream_gene_variant STAD-US 16 29912628 29912628 insertion of <=200bp - T downstream_gene_variant STAD-US 16 29912905 29912905 single base substitution G A downstream_gene_variant STAD-US 16 29913005 29913005 single base substitution C T downstream_gene_variant STAD-US 16 29913170 29913170 single base substitution C G downstream_gene_variant STAD-US 16 29922371 29922371 single base substitution G A 3_prime_UTR_variant STAD-US 16 29922371 29922371 single base substitution G A downstream_gene_variant STAD-US 16 29922371 29922371 single base substitution G A exon_variant STAD-US 16 29922371 29922371 single base substitution G A synonymous_variant Y105Y 315C>T STAD-US 16 29922371 29922371 single base substitution G A synonymous_variant Y227Y 681C>T STAD-US 16 29922419 29922419 single base substitution G T 3_prime_UTR_variant STAD-US 16 29922419 29922419 single base substitution G T downstream_gene_variant STAD-US 16 29922419 29922419 single base substitution G T exon_variant STAD-US 16 29922419 29922419 single base substitution G T synonymous_variant L211L 633C>A STAD-US 16 29922419 29922419 single base substitution G T synonymous_variant L89L 267C>A STAD-US 16 29922431 29922431 single base substitution G A 3_prime_UTR_variant STAD-US 16 29922431 29922431 single base substitution G A downstream_gene_variant STAD-US 16 29922431 29922431 single base substitution G A exon_variant STAD-US 16 29922431 29922431 single base substitution G A synonymous_variant H207H 621C>T STAD-US 16 29922431 29922431 single base substitution G A synonymous_variant H85H 255C>T STAD-US 16 29923364 29923364 deletion of <=200bp T - exon_variant STAD-US 16 29923364 29923364 deletion of <=200bp T - frameshift_variant R141 STAD-US 16 29923364 29923364 deletion of <=200bp T - frameshift_variant R19 UCEC-US 16 29912388 29912388 single base substitution G A downstream_gene_variant UCEC-US 16 29912544 29912544 single base substitution C T downstream_gene_variant UCEC-US 16 29912801 29912801 insertion of <=200bp - GGG downstream_gene_variant UCEC-US 16 29912847 29912847 single base substitution G A downstream_gene_variant UCEC-US 16 29912897 29912897 single base substitution C T downstream_gene_variant UCEC-US 16 29912911 29912911 single base substitution C G downstream_gene_variant UCEC-US 16 29913155 29913155 single base substitution G A downstream_gene_variant UCEC-US 16 29918231 29918231 single base substitution C T 3_prime_UTR_variant UCEC-US 16 29918231 29918231 single base substitution C T downstream_gene_variant UCEC-US 16 29918231 29918231 single base substitution C T exon_variant UCEC-US 16 29918231 29918231 single base substitution C T intron_variant UCEC-US 16 29918231 29918231 single base substitution C T missense_variant E318K 952G>A UCEC-US 16 29918369 29918369 single base substitution G A 3_prime_UTR_variant UCEC-US 16 29918369 29918369 single base substitution G A downstream_gene_variant UCEC-US 16 29918369 29918369 single base substitution G A exon_variant UCEC-US 16 29918369 29918369 single base substitution G A intron_variant UCEC-US 16 29918369 29918369 single base substitution G A missense_variant P272S 814C>T UCEC-US 16 29934552 29934552 single base substitution G C downstream_gene_variant UCEC-US 16 29934552 29934552 single base substitution G C exon_variant UCEC-US 16 29934552 29934552 single base substitution G C missense_variant L125V 373C>G UCEC-US 16 29934552 29934552 single base substitution G C missense_variant L30V 88C>G UCEC-US 16 29934552 29934552 single base substitution G C missense_variant L3V 7C>G

Mutation - COSMIC Sample Name Mutation ID Mutation CDS Mutation AA Mutation Description Mutation Genome Position Mutation Strand PTC-14C COSM4128954 c.530G>T p.R177L Substitution - Missense 16:29911842-29911842 - 1N50-VS-1T50 COSM4976541 c.772C>T p.R258W Substitution - Missense 16:29907090-29907090 - TCGA-AA-3492-01 COSM1377283 c.421delA p.R141fs*13 Deletion - Frameshift 16:29912043-29912043 - CLL121 COSM1290499 c.643G>T p.D215Y Substitution - Missense 16:29911088-29911088 - T27 COSM5342746 c.911G>A p.R304H Substitution - Missense 16:29906951-29906951 - CHC892T COSM4795606 c.249G>A p.W83* Substitution - Nonsense 16:29923355-29923355 - TCGA-ER-A19E-06 COSM3508656 c.17C>T p.S6L Substitution - Missense 16:29926017-29926017 - DLD1 COSM4623305 c.28G>A p.A10T Substitution - Missense 16:29926006-29926006 - CSCC-45-T COSM4495436 c.453C>T p.P151P Substitution - coding silent 16:29912011-29912011 - TCGA-G2-A3IE-01 COSM1301842 c.792G>A p.L264L Substitution - coding silent 16:29907070-29907070 - 3N07-VS-3T07 COSM4978900 c.949G>A p.D317N Substitution - Missense 16:29906913-29906913 - PD4109a COSM161873 c.325G>A p.E109K Substitution - Missense 16:29923279-29923279 - TCGA-CD-A486-01 COSM4060003 c.633C>A p.L211L Substitution - coding silent 16:29911098-29911098 - C089 COSM5384699 c.486C>T p.L162L Substitution - coding silent 16:29911978-29911978 - YUGATOR COSM5384700 c.451C>T p.P151S Substitution - Missense 16:29912013-29912013 - TCGA-EE-A3AD-06 COSM3508654 c.507C>T p.P169P Substitution - coding silent 16:29911865-29911865 - 250LT COSM4383175 c.388A>T p.I130F Substitution - Missense 16:29923216-29923216 - TCGA-LL-A5YL-01 COSM3817758 c.117C>T p.N39N Substitution - coding silent 16:29925917-29925917 - pfg019T COSM1640455 c.626G>A p.R209Q Substitution - Missense 16:29911105-29911105 - TCGA-AA-3672-01 COSM266749 c.174C>A p.T58T Substitution - coding silent 16:29925860-29925860 - LC_S11 COSM1189243 c.456G>T p.M152I Substitution - Missense 16:29912008-29912008 - S02139 COSM5674205 c.8C>T p.A3V Substitution - Missense 16:29926026-29926026 - TCGA-AX-A063-01 COSM969697 c.373C>G p.L125V Substitution - Missense 16:29923231-29923231 - PT48 COSM5933458 c.815C>T p.P272L Substitution - Missense 16:29907047-29907047 - PD4109a COSM161873 c.325G>A p.E109K Substitution - Missense 16:29923279-29923279 - TCGA-BS-A0TJ-01 COSM969695 c.952G>A p.E318K Substitution - Missense 16:29906910-29906910 - TCGA-A6-2686-01 COSM5084724 c.475G>C p.E159Q Substitution - Missense 16:29911989-29911989 - TCGA-FP-A4BE-01 COSM4060004 c.621C>T p.H207H Substitution - coding silent 16:29911110-29911110 - DLD1 COSM1678984 c.613C>T p.R205C Substitution - Missense 16:29911118-29911118 - CRC-06T COSM5456534 c.625C>T p.R209W Substitution - Missense 16:29911106-29911106 - CHC892T COSM4793915 c.382G>A p.G128S Substitution - Missense 16:29923222-29923222 - ESCC_21 COSM5626217 c.917G>A p.R306H Substitution - Missense 16:29906945-29906945 - TCGA-39-5030-01 COSM703342 c.658G>A p.E220K Substitution - Missense 16:29911073-29911073 - TCGA-FS-A1ZW-06 COSM3508655 c.506C>T p.P169L Substitution - Missense 16:29911866-29911866 - T3118 COSM4694786 c.323C>T p.P108L Substitution - Missense 16:29923281-29923281 - YUPAER COSM5384699 c.486C>T p.L162L Substitution - coding silent 16:29911978-29911978 - PTC-53C COSM4128955 c.268G>T p.G90C Substitution - Missense 16:29923336-29923336 - CHC892T COSM4795606 c.249G>A p.W83* Substitution - Nonsense 16:29923355-29923355 - OSCC-GB_00800111 COSM4887850 c.916C>T p.R306C Substitution - Missense 16:29906946-29906946 - PT48 COSM969696 c.814C>T p.P272S Substitution - Missense 16:29907048-29907048 - pfg024T COSM1640456 c.579T>G p.L193L Substitution - coding silent 16:29911152-29911152 - TCGA-BR-4257-01 COSM4060002 c.681C>T p.Y227Y Substitution - coding silent 16:29911050-29911050 - TCGA-EE-A2GL-06 COSM3508653 c.678C>T p.F226F Substitution - coding silent 16:29911053-29911053 - BD236T COSM5519375 c.742_744delAAG p.K248delK Deletion - In frame 16:29910987-29910989 - HCT15 COSM1678984 c.613C>T p.R205C Substitution - Missense 16:29911118-29911118 - LUAD-RT-S01808 COSM382680 c.99C>G p.L33L Substitution - coding silent 16:29925935-29925935 - HCT-15 COSM1678984 c.613C>T p.R205C Substitution - Missense 16:29911118-29911118 - TCGA-DS-A0VM-01 COSM460562 c.563C>T p.S188L Substitution - Missense 16:29911168-29911168 - CSCC-27-T COSM4503277 c.636C>T p.F212F Substitution - coding silent 16:29911095-29911095 - LUAD-F00368 COSM341065 c.793A>G p.N265D Substitution - Missense 16:29907069-29907069 - PD11361a COSM5794891 c.804C>G p.I268M Substitution - Missense 16:29907058-29907058 - CHC892T COSM4793915 c.382G>A p.G128S Substitution - Missense 16:29923222-29923222 - CSCC-49-T COSM4557631 c.736G>A p.E246K Substitution - Missense 16:29910995-29910995 - SC_9100 COSM5553208 c.841G>A p.E281K Substitution - Missense 16:29907021-29907021 - SC_9094 COSM5566455 c.169C>T p.R57C Substitution - Missense 16:29925865-29925865 - TCGA-AP-A059-01 COSM969696 c.814C>T p.P272S Substitution - Missense 16:29907048-29907048 - TCGA-AA-A02O-01 COSM300883 c.412C>T p.Q138* Substitution - Nonsense 16:29923192-29923192 -

Mutation - CGAP UNIGENE CYTOBAND OMIM SNP Hs.534590 16p11.2 608947

Mutation - IntOGen Mutated from(ref) Mutated to(alt) Consequence Type AA Mutation CDS Mutation Chr Pos Cancer A C Synonymous p.L193L c.579T>G 16 29922473 STAD C A Missense p.D215Y c.643G>T 16 29922409 CLL C T Missense p.E109K c.325G>A 16 29934600 BRCA C T Missense p.E220K c.658G>A 16 29922394 LUSC C T Missense p.E25K c.73G>A 16 29937282 CM C T Missense p.E318K c.952G>A 16 29918231 UCEC C T Missense p.G295R c.883G>A 16 29918300 HNSC C T Missense p.R209Q c.626G>A 16 29922426 STAD C T Synonymous p.K168K c.504G>A 16 29923281 HNSC C T Synonymous p.L264L c.792G>A 16 29918391 BLCA C T Synonymous p.L45L c.135G>A 16 29937220 HNSC G A Missense p.P169L c.506C>T 16 29923187 CM G A Missense p.P28L c.83C>T 16 29937272 BRCA G A Missense p.S6L c.17C>T 16 29937338 CM G A Nonsense p.Q138* c.412C>T 16 29934513 COREAD G A Synonymous p.F226F c.678C>T 16 29922374 CM G A Synonymous p.G322G c.966C>T 16 29918217 CM G A Synonymous p.L24L c.72C>T 16 29937283 CM G A Synonymous p.P169P c.507C>T 16 29923186 CM G A Synonymous p.Y227Y c.681C>T 16 29922371 STAD G C Missense p.L125V c.373C>G 16 29934552 UCEC G C Synonymous p.L97L c.291C>G 16 29934634 HNSC T G Missense p.Y124S c.371A>C 16 29934554 LUAD