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 4 17805608 17805608 + Missense_Mutation SNP C C A TCGA-OR-A5KB-01A-11D-A30A-10 TCGA-OR-A5KB-11A-11D-A30A-10 g.chr4:17805608C>A c.157G>T c.(157-159)Gcc>Tcc p.A53S BLCA 4 17805489 17805489 + Missense_Mutation SNP C C G TCGA-MV-A51V-01A-11D-A26M-08 TCGA-MV-A51V-10A-01D-A26K-08 g.chr4:17805489C>G c.276G>C c.(274-276)gaG>gaC p.E92D BLCA 4 17805577 17805577 + Missense_Mutation SNP G G A TCGA-DK-A6B6-01A-11D-A30E-08 TCGA-DK-A6B6-10A-01D-A30H-08 g.chr4:17805577G>A c.188C>T c.(187-189)tCc>tTc p.S63F CESC 4 17805707 17805707 + Nonsense_Mutation SNP C C A TCGA-DS-A0VK-01A-21D-A10S-08 TCGA-DS-A0VK-10A-01D-A10S-08 g.chr4:17805707C>A c.58G>T c.(58-60)Gaa>Taa p.E20* COAD 4 17805171 17805171 + Silent SNP A A G TCGA-A6-5661-01A-01D-1650-10 TCGA-A6-5661-10A-01D-1650-10 g.chr4:17805171A>G c.594T>C c.(592-594)acT>acC p.T198T COAD 4 17805171 17805171 + Silent SNP A A G TCGA-AZ-6598-01A-11D-1771-10 TCGA-AZ-6598-11A-01D-1771-10 g.chr4:17805171A>G c.594T>C c.(592-594)acT>acC p.T198T COAD 4 17805171 17805171 + Silent SNP A A G TCGA-D5-6920-01A-11D-1924-10 TCGA-D5-6920-10A-01D-1924-10 g.chr4:17805171A>G c.594T>C c.(592-594)acT>acC p.T198T COAD 4 17805455 17805455 + Missense_Mutation SNP C C T TCGA-A6-6653-01A-11D-1771-10 TCGA-A6-6653-10A-01D-1771-10 g.chr4:17805455C>T c.310G>A c.(310-312)Gtc>Atc p.V104I COADREAD 4 17805171 17805171 + Silent SNP A A G TCGA-A6-5661-01A-01D-1650-10 TCGA-A6-5661-10A-01D-1650-10 g.chr4:17805171A>G c.594T>C c.(592-594)acT>acC p.T198T COADREAD 4 17805171 17805171 + Silent SNP A A G TCGA-AZ-6598-01A-11D-1771-10 TCGA-AZ-6598-11A-01D-1771-10 g.chr4:17805171A>G c.594T>C c.(592-594)acT>acC p.T198T COADREAD 4 17805171 17805171 + Silent SNP A A G TCGA-D5-6920-01A-11D-1924-10 TCGA-D5-6920-10A-01D-1924-10 g.chr4:17805171A>G c.594T>C c.(592-594)acT>acC p.T198T COADREAD 4 17805455 17805455 + Missense_Mutation SNP C C T TCGA-A6-6653-01A-11D-1771-10 TCGA-A6-6653-10A-01D-1771-10 g.chr4:17805455C>T c.310G>A c.(310-312)Gtc>Atc p.V104I ESCA 4 17805701 17805701 + Missense_Mutation SNP T T C TCGA-LN-A49O-01A-11D-A247-09 TCGA-LN-A49O-10A-01D-A247-09 g.chr4:17805701T>C c.64A>G c.(64-66)Att>Gtt p.I22V ESCA 4 17805701 17805701 + Missense_Mutation SNP T T C TCGA-R6-A6Y0-01B-11D-A33E-09 TCGA-R6-A6Y0-10A-01D-A33H-09 g.chr4:17805701T>C c.64A>G c.(64-66)Att>Gtt p.I22V ESCA 4 17805730 17805730 + Missense_Mutation SNP G G A TCGA-L5-A8NK-01A-21D-A37C-09 TCGA-L5-A8NK-11A-11D-A37F-09 g.chr4:17805730G>A c.35C>T c.(34-36)tCa>tTa p.S12L HNSC 4 17805350 17805350 + Missense_Mutation SNP C C A TCGA-CV-7242-01A-11D-2012-08 TCGA-CV-7242-10A-01D-2013-08 g.chr4:17805350C>A c.415G>T c.(415-417)Gcc>Tcc p.A139S HNSC 4 17805431 17805431 + Missense_Mutation SNP C C T TCGA-CV-6948-01A-11D-1912-08 TCGA-CV-6948-10A-01D-1912-08 g.chr4:17805431C>T c.334G>A c.(334-336)Gaa>Aaa p.E112K HNSC 4 17805653 17805653 + Missense_Mutation SNP C C T TCGA-CQ-5331-01A-02D-1870-08 TCGA-CQ-5331-10A-01D-1870-08 g.chr4:17805653C>T c.112G>A c.(112-114)Gaa>Aaa p.E38K HNSC 4 17805694 17805694 + Missense_Mutation SNP T T C TCGA-BB-4223-01A-01D-1434-08 TCGA-BB-4223-10A-01D-1434-08 g.chr4:17805694T>C c.71A>G c.(70-72)tAc>tGc p.Y24C HNSC 4 17805713 17805713 + Nonsense_Mutation SNP C C A TCGA-F7-A624-01A-22D-A30E-08 TCGA-F7-A624-10A-01D-A30H-08 g.chr4:17805713C>A c.52G>T c.(52-54)Gaa>Taa p.E18* LIHC 4 17805674 17805674 + Frame_Shift_Del DEL C C - TCGA-DD-A3A0-01A-11D-A20W-10 TCGA-DD-A3A0-11A-11D-A20W-10 g.chr4:17805674delC c.91delG c.(91-93)gaafs p.E32fs LUAD 4 17805188 17805188 + Missense_Mutation SNP C C G TCGA-05-4382-01A-01D-1931-08 TCGA-05-4382-10A-01D-1265-08 g.chr4:17805188C>G c.577G>C c.(577-579)Gaa>Caa p.E193Q LUAD 4 17805366 17805366 + Silent SNP C C A TCGA-05-4249-01A-01D-1105-08 TCGA-05-4249-10A-01D-1105-08 g.chr4:17805366C>A c.399G>T c.(397-399)cgG>cgT p.R133R LUAD 4 17805617 17805617 + Missense_Mutation SNP C C G TCGA-55-8089-01A-11D-2238-08 TCGA-55-8089-10A-01D-2238-08 g.chr4:17805617C>G c.148G>C c.(148-150)Gag>Cag p.E50Q OV 4 17805173 17805173 + Missense_Mutation SNP T T C TCGA-13-1488-01A-01W-0549-09 TCGA-13-1488-10A-01W-0549-09 g.chr4:17805173T>C c.592A>G c.(592-594)Act>Gct p.T198A SARC 4 17805189 17805189 + Silent SNP A A G TCGA-KD-A5QT-01A-11D-A27P-09 TCGA-KD-A5QT-10A-01D-A27P-09 g.chr4:17805189A>G c.576T>C c.(574-576)acT>acC p.T192T SKCM 4 17805284 17805284 + Missense_Mutation SNP G G A TCGA-EE-A3AE-06A-11D-A196-08 TCGA-EE-A3AE-10A-01D-A198-08 g.chr4:17805284G>A c.481C>T c.(481-483)Ccc>Tcc p.P161S SKCM 4 17805290 17805290 + Missense_Mutation SNP C C T TCGA-DA-A1IC-06A-11D-A197-08 TCGA-DA-A1IC-10A-01D-A199-08 g.chr4:17805290C>T c.475G>A c.(475-477)Gcc>Acc p.A159T SKCM 4 17805353 17805353 + Missense_Mutation SNP G G A TCGA-D3-A3C7-06A-11D-A196-08 TCGA-D3-A3C7-10A-01D-A198-08 g.chr4:17805353G>A c.412C>T c.(412-414)Cat>Tat p.H138Y SKCM 4 17805433 17805433 + Missense_Mutation SNP G G A TCGA-EE-A29E-06A-11D-A197-08 TCGA-EE-A29E-10A-01D-A199-08 g.chr4:17805433G>A c.332C>T c.(331-333)cCt>cTt p.P111L SKCM 4 17805434 17805434 + Missense_Mutation SNP G G A TCGA-ER-A193-06A-12D-A197-08 TCGA-ER-A193-10A-01D-A199-08 g.chr4:17805434G>A c.331C>T c.(331-333)Cct>Tct p.P111S SKCM 4 17805519 17805519 + Missense_Mutation SNP A A C TCGA-FW-A3R5-06A-11D-A23B-08 TCGA-FW-A3R5-10A-01D-A23B-08 g.chr4:17805519A>C c.246T>G c.(244-246)gaT>gaG p.D82E SKCM 4 17805544 17805544 + Missense_Mutation SNP C C G TCGA-ER-A19P-06A-11D-A196-08 TCGA-ER-A19P-10A-01D-A198-08 g.chr4:17805544C>G c.221G>C c.(220-222)tGg>tCg p.W74S SKCM 4 17805749 17805749 + Missense_Mutation SNP G G A TCGA-D3-A1Q6-06A-11D-A196-08 TCGA-D3-A1Q6-10A-01D-A198-08 g.chr4:17805749G>A c.16C>T c.(16-18)Ccc>Tcc p.P6S

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 4 17805707 17805707 single base substitution C T downstream_gene_variant BLCA-CN 4 17805707 17805707 single base substitution C T missense_variant E20K 58G>A BLCA-US 4 17816575 17816575 single base substitution G T upstream_gene_variant BRCA-EU 4 17797977 17797977 deletion of <=200bp G - downstream_gene_variant BRCA-EU 4 17798951 17798951 single base substitution T C downstream_gene_variant BRCA-EU 4 17799864 17799864 single base substitution G A downstream_gene_variant BRCA-EU 4 17803284 17803284 deletion of <=200bp T - 3_prime_UTR_variant BRCA-EU 4 17803284 17803284 deletion of <=200bp T - downstream_gene_variant BRCA-EU 4 17804917 17804917 single base substitution G A 3_prime_UTR_variant BRCA-EU 4 17804917 17804917 single base substitution G A downstream_gene_variant BRCA-EU 4 17804917 17804917 single base substitution G A intron_variant BRCA-EU 4 17804994 17804994 single base substitution T C 3_prime_UTR_variant BRCA-EU 4 17804994 17804994 single base substitution T C downstream_gene_variant BRCA-EU 4 17806498 17806498 single base substitution G A downstream_gene_variant BRCA-EU 4 17806498 17806498 single base substitution G A intron_variant BRCA-EU 4 17809992 17809992 single base substitution G A downstream_gene_variant BRCA-EU 4 17809992 17809992 single base substitution G A intron_variant BRCA-EU 4 17810082 17810082 single base substitution C T downstream_gene_variant BRCA-EU 4 17810082 17810082 single base substitution C T intron_variant BRCA-EU 4 17811285 17811285 single base substitution C G exon_variant BRCA-EU 4 17811285 17811285 single base substitution C G intron_variant BRCA-EU 4 17811755 17811755 single base substitution C A intron_variant BRCA-EU 4 17813721 17813721 single base substitution A G upstream_gene_variant BRCA-EU 4 17814139 17814139 single base substitution A T upstream_gene_variant BRCA-EU 4 17814227 17814227 single base substitution C A upstream_gene_variant BRCA-EU 4 17815552 17815552 deletion of <=200bp T - upstream_gene_variant BRCA-FR 4 17798951 17798951 single base substitution T C downstream_gene_variant BRCA-FR 4 17811285 17811285 single base substitution C G exon_variant BRCA-FR 4 17811285 17811285 single base substitution C G intron_variant BRCA-UK 4 17804917 17804917 single base substitution G A 3_prime_UTR_variant BRCA-UK 4 17804917 17804917 single base substitution G A downstream_gene_variant BRCA-UK 4 17804917 17804917 single base substitution G A intron_variant BRCA-UK 4 17814724 17814724 single base substitution C T upstream_gene_variant BRCA-US 4 17816953 17816953 single base substitution C T upstream_gene_variant BTCA-JP 4 17805759 17805759 single base substitution A G downstream_gene_variant BTCA-JP 4 17805759 17805759 single base substitution A G synonymous_variant G2G 6T>C BTCA-JP 4 17816627 17816627 single base substitution T C upstream_gene_variant CESC-US 4 17805707 17805707 single base substitution C A downstream_gene_variant CESC-US 4 17805707 17805707 single base substitution C A stop_gained E20* 58G>T CESC-US 4 17805988 17805988 single base substitution C T 5_prime_UTR_variant CESC-US 4 17805988 17805988 single base substitution C T exon_variant COAD-US 4 17805379 17805379 single base substitution G A downstream_gene_variant COAD-US 4 17805379 17805379 single base substitution G A missense_variant T129I 386C>T COAD-US 4 17805455 17805455 single base substitution C T downstream_gene_variant COAD-US 4 17805455 17805455 single base substitution C T missense_variant V104I 310G>A COAD-US 4 17806161 17806161 deletion of <=200bp T - 5_prime_UTR_variant COAD-US 4 17806161 17806161 deletion of <=200bp T - downstream_gene_variant COAD-US 4 17806161 17806161 deletion of <=200bp T - exon_variant COAD-US 4 17812796 17812796 single base substitution C T upstream_gene_variant COCA-CN 4 17805060 17805060 single base substitution T G 3_prime_UTR_variant COCA-CN 4 17805060 17805060 single base substitution T G downstream_gene_variant COCA-CN 4 17816682 17816682 single base substitution A C upstream_gene_variant ESAD-UK 4 17797396 17797396 single base substitution C G downstream_gene_variant ESAD-UK 4 17798508 17798508 insertion of <=200bp - AAAT downstream_gene_variant ESAD-UK 4 17800152 17800152 single base substitution G A downstream_gene_variant ESAD-UK 4 17800420 17800420 single base substitution C T downstream_gene_variant ESAD-UK 4 17806262 17806262 single base substitution C T 5_prime_UTR_variant ESAD-UK 4 17806262 17806262 single base substitution C T downstream_gene_variant ESAD-UK 4 17806262 17806262 single base substitution C T exon_variant ESAD-UK 4 17807429 17807429 single base substitution T C downstream_gene_variant ESAD-UK 4 17807429 17807429 single base substitution T C intron_variant ESAD-UK 4 17807590 17807592 deletion of <=200bp ACA - downstream_gene_variant ESAD-UK 4 17807590 17807592 deletion of <=200bp ACA - intron_variant ESAD-UK 4 17808245 17808245 single base substitution T C downstream_gene_variant ESAD-UK 4 17808245 17808245 single base substitution T C intron_variant ESAD-UK 4 17808486 17808486 single base substitution C T downstream_gene_variant ESAD-UK 4 17808486 17808486 single base substitution C T intron_variant ESAD-UK 4 17812179 17812179 single base substitution A G 5_prime_UTR_variant ESAD-UK 4 17812179 17812179 single base substitution A G exon_variant ESAD-UK 4 17813196 17813196 single base substitution G T upstream_gene_variant ESAD-UK 4 17813871 17813871 single base substitution G A upstream_gene_variant ESAD-UK 4 17814870 17814870 single base substitution T C upstream_gene_variant GBM-US 4 17816578 17816578 single base substitution G A upstream_gene_variant LICA-FR 4 17805675 17805675 single base substitution C T downstream_gene_variant LICA-FR 4 17805675 17805675 single base substitution C T synonymous_variant G30G 90G>A LICA-FR 4 17810441 17810441 single base substitution C T downstream_gene_variant LICA-FR 4 17810441 17810441 single base substitution C T intron_variant LICA-FR 4 17810989 17810989 single base substitution T C downstream_gene_variant LICA-FR 4 17810989 17810989 single base substitution T C intron_variant LICA-FR 4 17813417 17813417 single base substitution G A upstream_gene_variant LICA-FR 4 17815251 17815251 single base substitution A G upstream_gene_variant LIHC-US 4 17814020 17814020 single base substitution A C upstream_gene_variant LINC-JP 4 17807786 17807786 single base substitution A C downstream_gene_variant LINC-JP 4 17807786 17807786 single base substitution A C intron_variant LINC-JP 4 17816595 17816595 single base substitution G C upstream_gene_variant LIRI-JP 4 17801762 17801762 single base substitution C T downstream_gene_variant LIRI-JP 4 17802817 17802817 single base substitution T C 3_prime_UTR_variant LIRI-JP 4 17802817 17802817 single base substitution T C downstream_gene_variant LIRI-JP 4 17809541 17809541 single base substitution T G downstream_gene_variant LIRI-JP 4 17809541 17809541 single base substitution T G intron_variant LIRI-JP 4 17809837 17809837 single base substitution T C downstream_gene_variant LIRI-JP 4 17809837 17809837 single base substitution T C intron_variant LUSC-KR 4 17797839 17797839 single base substitution C A downstream_gene_variant LUSC-KR 4 17806608 17806608 single base substitution T A downstream_gene_variant LUSC-KR 4 17806608 17806608 single base substitution T A intron_variant LUSC-KR 4 17807567 17807567 single base substitution G T downstream_gene_variant LUSC-KR 4 17807567 17807567 single base substitution G T intron_variant LUSC-KR 4 17810348 17810348 single base substitution T C downstream_gene_variant LUSC-KR 4 17810348 17810348 single base substitution T C intron_variant LUSC-KR 4 17815398 17815398 single base substitution T C upstream_gene_variant MALY-DE 4 17799927 17799927 single base substitution A T downstream_gene_variant MALY-DE 4 17801461 17801461 single base substitution C T downstream_gene_variant MALY-DE 4 17807067 17807067 insertion of <=200bp - A downstream_gene_variant MALY-DE 4 17807067 17807067 insertion of <=200bp - A intron_variant MALY-DE 4 17809118 17809118 insertion of <=200bp - TGTTT downstream_gene_variant MALY-DE 4 17809118 17809118 insertion of <=200bp - TGTTT intron_variant MELA-AU 4 17797984 17797984 single base substitution A T downstream_gene_variant MELA-AU 4 17798527 17798527 single base substitution T C downstream_gene_variant MELA-AU 4 17798721 17798721 single base substitution G A downstream_gene_variant MELA-AU 4 17798925 17798925 single base substitution A C downstream_gene_variant MELA-AU 4 17798972 17798972 single base substitution C T downstream_gene_variant MELA-AU 4 17799100 17799100 single base substitution G A downstream_gene_variant MELA-AU 4 17800429 17800429 single base substitution C T downstream_gene_variant MELA-AU 4 17800920 17800920 single base substitution G A downstream_gene_variant MELA-AU 4 17801119 17801120 deletion of <=200bp AG - downstream_gene_variant MELA-AU 4 17802338 17802338 single base substitution G A 3_prime_UTR_variant MELA-AU 4 17802338 17802338 single base substitution G A downstream_gene_variant MELA-AU 4 17803776 17803776 single base substitution G A 3_prime_UTR_variant MELA-AU 4 17803776 17803776 single base substitution G A downstream_gene_variant MELA-AU 4 17803776 17803776 single base substitution G A intron_variant MELA-AU 4 17804407 17804407 single base substitution A G 3_prime_UTR_variant MELA-AU 4 17804407 17804407 single base substitution A G downstream_gene_variant MELA-AU 4 17804407 17804407 single base substitution A G intron_variant MELA-AU 4 17804918 17804918 single base substitution G A 3_prime_UTR_variant MELA-AU 4 17804918 17804918 single base substitution G A downstream_gene_variant MELA-AU 4 17804918 17804918 single base substitution G A intron_variant MELA-AU 4 17805353 17805353 single base substitution G A downstream_gene_variant MELA-AU 4 17805353 17805353 single base substitution G A missense_variant H138Y 412C>T MELA-AU 4 17805650 17805650 single base substitution C A downstream_gene_variant MELA-AU 4 17805650 17805650 single base substitution C A stop_gained E39* 115G>T MELA-AU 4 17805889 17805889 single base substitution T C 5_prime_UTR_variant MELA-AU 4 17805889 17805889 single base substitution T C downstream_gene_variant MELA-AU 4 17806369 17806369 single base substitution G A 5_prime_UTR_variant MELA-AU 4 17806369 17806369 single base substitution G A downstream_gene_variant MELA-AU 4 17806369 17806369 single base substitution G A exon_variant MELA-AU 4 17807045 17807045 single base substitution G A downstream_gene_variant MELA-AU 4 17807045 17807045 single base substitution G A intron_variant MELA-AU 4 17807116 17807116 single base substitution A G downstream_gene_variant MELA-AU 4 17807116 17807116 single base substitution A G intron_variant MELA-AU 4 17807201 17807201 single base substitution G A downstream_gene_variant MELA-AU 4 17807201 17807201 single base substitution G A intron_variant MELA-AU 4 17808105 17808105 single base substitution G A downstream_gene_variant MELA-AU 4 17808105 17808105 single base substitution G A intron_variant MELA-AU 4 17808174 17808174 single base substitution T A downstream_gene_variant MELA-AU 4 17808174 17808174 single base substitution T A intron_variant MELA-AU 4 17808654 17808654 single base substitution A C downstream_gene_variant MELA-AU 4 17808654 17808654 single base substitution A C intron_variant MELA-AU 4 17808999 17808999 single base substitution G A downstream_gene_variant MELA-AU 4 17808999 17808999 single base substitution G A intron_variant MELA-AU 4 17809998 17809998 single base substitution T C downstream_gene_variant MELA-AU 4 17809998 17809998 single base substitution T C intron_variant MELA-AU 4 17810107 17810107 single base substitution T A downstream_gene_variant MELA-AU 4 17810107 17810107 single base substitution T A intron_variant MELA-AU 4 17812400 17812400 single base substitution C T upstream_gene_variant MELA-AU 4 17812419 17812420 multiple base substitution (>=2bp and <=200bp) CC TT upstream_gene_variant MELA-AU 4 17812445 17812445 single base substitution T C upstream_gene_variant MELA-AU 4 17812592 17812592 single base substitution C T upstream_gene_variant MELA-AU 4 17812822 17812823 multiple base substitution (>=2bp and <=200bp) CC TT upstream_gene_variant MELA-AU 4 17813220 17813220 single base substitution C T upstream_gene_variant MELA-AU 4 17814841 17814841 single base substitution T A upstream_gene_variant MELA-AU 4 17815171 17815171 single base substitution C T upstream_gene_variant MELA-AU 4 17815209 17815209 single base substitution C T upstream_gene_variant MELA-AU 4 17815311 17815311 single base substitution C T upstream_gene_variant MELA-AU 4 17815719 17815719 single base substitution C T upstream_gene_variant MELA-AU 4 17815823 17815823 single base substitution T G upstream_gene_variant MELA-AU 4 17816765 17816765 single base substitution T A upstream_gene_variant MELA-AU 4 17816931 17816931 single base substitution C T upstream_gene_variant MELA-AU 4 17817330 17817331 deletion of <=200bp AG - upstream_gene_variant MELA-AU 4 17817338 17817338 single base substitution G A upstream_gene_variant OV-AU 4 17798372 17798372 single base substitution C T downstream_gene_variant OV-US 4 17805173 17805173 single base substitution T C downstream_gene_variant OV-US 4 17805173 17805173 single base substitution T C missense_variant T198A 592A>G PACA-AU 4 17801940 17801940 single base substitution T C downstream_gene_variant PACA-AU 4 17806553 17806553 single base substitution C G downstream_gene_variant PACA-AU 4 17806553 17806553 single base substitution C G intron_variant PACA-CA 4 17799401 17799401 single base substitution T C downstream_gene_variant PACA-CA 4 17800224 17800224 insertion of <=200bp - A downstream_gene_variant PACA-CA 4 17804734 17804734 single base substitution G A 3_prime_UTR_variant PACA-CA 4 17804734 17804734 single base substitution G A downstream_gene_variant PACA-CA 4 17804734 17804734 single base substitution G A intron_variant PACA-CA 4 17806776 17806776 single base substitution G T 5_prime_UTR_variant PACA-CA 4 17806776 17806776 single base substitution G T downstream_gene_variant PACA-CA 4 17806776 17806776 single base substitution G T intron_variant PACA-CA 4 17809161 17809161 single base substitution T C downstream_gene_variant PACA-CA 4 17809161 17809161 single base substitution T C intron_variant PACA-CA 4 17812546 17812546 single base substitution T G upstream_gene_variant PACA-CA 4 17817097 17817097 single base substitution T C upstream_gene_variant PBCA-DE 4 17798380 17798380 insertion of <=200bp - A downstream_gene_variant PBCA-DE 4 17798475 17798475 single base substitution C G downstream_gene_variant PBCA-DE 4 17801207 17801207 single base substitution C T downstream_gene_variant PBCA-DE 4 17803267 17803267 single base substitution G A 3_prime_UTR_variant PBCA-DE 4 17803267 17803267 single base substitution G A downstream_gene_variant PBCA-DE 4 17807808 17807808 single base substitution C A downstream_gene_variant PBCA-DE 4 17807808 17807808 single base substitution C A intron_variant PBCA-DE 4 17813417 17813417 single base substitution G A upstream_gene_variant PRAD-CA 4 17804426 17804426 single base substitution T C 3_prime_UTR_variant PRAD-CA 4 17804426 17804426 single base substitution T C downstream_gene_variant PRAD-CA 4 17804426 17804426 single base substitution T C intron_variant PRAD-CA 4 17808863 17808863 single base substitution T C downstream_gene_variant PRAD-CA 4 17808863 17808863 single base substitution T C intron_variant PRAD-CA 4 17811851 17811851 single base substitution C T intron_variant PRAD-CA 4 17813935 17813935 single base substitution T G upstream_gene_variant PRAD-UK 4 17806916 17806916 single base substitution T A downstream_gene_variant PRAD-UK 4 17806916 17806916 single base substitution T A intron_variant RECA-EU 4 17807867 17807867 single base substitution T C downstream_gene_variant RECA-EU 4 17807867 17807867 single base substitution T C intron_variant SKCA-BR 4 17813761 17813761 single base substitution G A upstream_gene_variant SKCA-BR 4 17815379 17815379 single base substitution C T upstream_gene_variant SKCA-BR 4 17816931 17816931 single base substitution C T upstream_gene_variant SKCM-US 4 17805166 17805166 single base substitution G T downstream_gene_variant SKCM-US 4 17805166 17805166 single base substitution G T missense_variant S200Y 599C>A SKCM-US 4 17805284 17805284 single base substitution G A downstream_gene_variant SKCM-US 4 17805284 17805284 single base substitution G A missense_variant P161S 481C>T SKCM-US 4 17805290 17805290 single base substitution C T downstream_gene_variant SKCM-US 4 17805290 17805290 single base substitution C T missense_variant A159T 475G>A SKCM-US 4 17805353 17805353 single base substitution G A downstream_gene_variant SKCM-US 4 17805353 17805353 single base substitution G A missense_variant H138Y 412C>T SKCM-US 4 17805433 17805433 single base substitution G A downstream_gene_variant SKCM-US 4 17805433 17805433 single base substitution G A missense_variant P111L 332C>T SKCM-US 4 17805434 17805434 single base substitution G A downstream_gene_variant SKCM-US 4 17805434 17805434 single base substitution G A missense_variant P111S 331C>T SKCM-US 4 17805519 17805519 single base substitution A C downstream_gene_variant SKCM-US 4 17805519 17805519 single base substitution A C missense_variant D82E 246T>G SKCM-US 4 17805749 17805749 single base substitution G A downstream_gene_variant SKCM-US 4 17805749 17805749 single base substitution G A missense_variant P6S 16C>T SKCM-US 4 17812717 17812717 single base substitution G A upstream_gene_variant SKCM-US 4 17814690 17814690 single base substitution C T upstream_gene_variant STAD-US 4 17805232 17805232 single base substitution C T downstream_gene_variant STAD-US 4 17805232 17805232 single base substitution C T missense_variant C178Y 533G>A STAD-US 4 17805389 17805389 single base substitution T C downstream_gene_variant STAD-US 4 17805389 17805389 single base substitution T C missense_variant K126E 376A>G STAD-US 4 17805438 17805438 single base substitution T C downstream_gene_variant STAD-US 4 17805438 17805438 single base substitution T C synonymous_variant P109P 327A>G STAD-US 4 17805513 17805513 single base substitution G A downstream_gene_variant STAD-US 4 17805513 17805513 single base substitution G A synonymous_variant S84S 252C>T STAD-US 4 17814759 17814759 single base substitution G C upstream_gene_variant THCA-SA 4 17804286 17804286 single base substitution T G 3_prime_UTR_variant THCA-SA 4 17804286 17804286 single base substitution T G downstream_gene_variant THCA-SA 4 17804286 17804286 single base substitution T G intron_variant UCEC-US 4 17805219 17805219 single base substitution C T downstream_gene_variant UCEC-US 4 17805219 17805219 single base substitution C T synonymous_variant L182L 546G>A UCEC-US 4 17805494 17805494 single base substitution G A downstream_gene_variant UCEC-US 4 17805494 17805494 single base substitution G A stop_gained R91* 271C>T UCEC-US 4 17805504 17805504 single base substitution G A downstream_gene_variant UCEC-US 4 17805504 17805504 single base substitution G A synonymous_variant V87V 261C>T UCEC-US 4 17813896 17813896 single base substitution T C upstream_gene_variant UCEC-US 4 17814564 17814564 single base substitution G T upstream_gene_variant UCEC-US 4 17816537 17816537 single base substitution T C upstream_gene_variant

Mutation - COSMIC Sample Name Mutation ID Mutation CDS Mutation AA Mutation Description Mutation Genome Position Mutation Strand STC252 COSM5060260 c.383T>G p.L128R Substitution - Missense 4:17803759-17803759 - B25-Tumor COSM1753642 c.58G>A p.E20K Substitution - Missense 4:17804084-17804084 - TCGA-BR-6452-01 COSM4123539 c.376A>G p.K126E Substitution - Missense 4:17803766-17803766 - Pat_46_B COSM5866100 c.391C>T p.P131S Substitution - Missense 4:17803751-17803751 - CSCC-30-T COSM4492177 c.392C>T p.P131L Substitution - Missense 4:17803750-17803750 - TCGA-BR-6452-01 COSM4123538 c.533G>A p.C178Y Substitution - Missense 4:17803609-17803609 - TCGA-DS-A0VK-01 COSM460646 c.58G>T p.E20* Substitution - Nonsense 4:17804084-17804084 - 2492722 COSM5720211 c.100G>A p.D34N Substitution - Missense 4:17804042-17804042 - TCGA-EE-A3AE-06 COSM3602196 c.481C>T p.P161S Substitution - Missense 4:17803661-17803661 - SNUH_G73_S1 COSM3760492 c.386C>T p.T129I Substitution - Missense 4:17803756-17803756 - 2492710 COSM5717177 c.97T>G p.W33G Substitution - Missense 4:17804045-17804045 - D38 COSM5546293 c.105C>T p.S35S Substitution - coding silent 4:17804037-17804037 - TCGA-DA-A1IC-06 COSM3602197 c.475G>A p.A159T Substitution - Missense 4:17803667-17803667 - Pat_63_B COSM5720211 c.100G>A p.D34N Substitution - Missense 4:17804042-17804042 - TCGA-BR-4256-01 COSM4123540 c.327A>G p.P109P Substitution - coding silent 4:17803815-17803815 - 2492723 COSM5720211 c.100G>A p.D34N Substitution - Missense 4:17804042-17804042 - TCGA-AX-A0J0-01 COSM1053444 c.271C>T p.R91* Substitution - Nonsense 4:17803871-17803871 - TCGA-ER-A193-06 COSM3602200 c.331C>T p.P111S Substitution - Missense 4:17803811-17803811 - Pat_46_A COSM5866100 c.391C>T p.P131S Substitution - Missense 4:17803751-17803751 - TCGA-D3-A3C7-06 COSM3602198 c.412C>T p.H138Y Substitution - Missense 4:17803730-17803730 - Case5h COSM1717259 c.42A>T p.S14S Substitution - coding silent 4:17804100-17804100 - TCGA-EJ-7125-01 COSM3674139 c.132C>A p.P44P Substitution - coding silent 4:17804010-17804010 - TCGA-D3-A1Q6-06 COSM3602201 c.16C>T p.P6S Substitution - Missense 4:17804126-17804126 - YUNEKI COSM5400897 c.246T>C p.D82D Substitution - coding silent 4:17803896-17803896 - TCGA-BR-8361-01 COSM4123541 c.252C>T p.S84S Substitution - coding silent 4:17803890-17803890 - T3174 COSM4676358 c.4G>T p.G2C Substitution - Missense 4:17804138-17804138 - TCGA-AX-A05Z-01 COSM1053444 c.271C>T p.R91* Substitution - Nonsense 4:17803871-17803871 - CH-109-T2 COSM5650581 c.435G>A p.L145L Substitution - coding silent 4:17803707-17803707 - TCGA-A6-6653-01 COSM1428599 c.310G>A p.V104I Substitution - Missense 4:17803832-17803832 - Case5f COSM1717259 c.42A>T p.S14S Substitution - coding silent 4:17804100-17804100 - CCK81 COSM3337401 c.528G>A p.G176G Substitution - coding silent 4:17803614-17803614 - TCGA-EE-A29E-06 COSM3602199 c.332C>T p.P111L Substitution - Missense 4:17803810-17803810 - PTC-7C COSM4158922 c.449A>C p.K150T Substitution - Missense 4:17803693-17803693 - 2492708 COSM5717177 c.97T>G p.W33G Substitution - Missense 4:17804045-17804045 - 058T COSM1729995 c.126G>T p.M42I Substitution - Missense 4:17804016-17804016 - CSCC-27-T COSM1428598 c.594T>C p.T198T Substitution - coding silent 4:17803548-17803548 - TCGA-D1-A16I-01 COSM1053443 c.546G>A p.L182L Substitution - coding silent 4:17803596-17803596 - HCC2998 COSM1053444 c.271C>T p.R91* Substitution - Nonsense 4:17803871-17803871 - Case5b COSM1717259 c.42A>T p.S14S Substitution - coding silent 4:17804100-17804100 - CHC892T COSM4798449 c.90G>A p.G30G Substitution - coding silent 4:17804052-17804052 - 2492709 COSM5717177 c.97T>G p.W33G Substitution - Missense 4:17804045-17804045 - 2492720 COSM5720211 c.100G>A p.D34N Substitution - Missense 4:17804042-17804042 - TCGA-AP-A059-01 COSM1053445 c.261C>T p.V87V Substitution - coding silent 4:17803881-17803881 - PT51 COSM5866100 c.391C>T p.P131S Substitution - Missense 4:17803751-17803751 - 2492721 COSM5720211 c.100G>A p.D34N Substitution - Missense 4:17804042-17804042 - B25 COSM1753642 c.58G>A p.E20K Substitution - Missense 4:17804084-17804084 - TCGA-EB-A431-01 COSM3602195 c.599C>A p.S200Y Substitution - Missense 4:17803543-17803543 - T3091 COSM4676357 c.294C>T p.S98S Substitution - coding silent 4:17803848-17803848 - HCC2998 COSM1053444 c.271C>T p.R91* Substitution - Nonsense 4:17803871-17803871 - SN12C COSM1670913 c.25G>T p.D9Y Substitution - Missense 4:17804117-17804117 - CHC892T COSM4798449 c.90G>A p.G30G Substitution - coding silent 4:17804052-17804052 - TCGA-13-1488-01 COSM74327 c.592A>G p.T198A Substitution - Missense 4:17803550-17803550 - TCGA-FW-A3R5-06 COSM3917484 c.246T>G p.D82E Substitution - Missense 4:17803896-17803896 - TCGA-AM-5820-01 COSM3760492 c.386C>T p.T129I Substitution - Missense 4:17803756-17803756 - LUAD-B01811 COSM334583 c.244G>T p.D82Y Substitution - Missense 4:17803898-17803898 -

Mutation - CGAP UNIGENE CYTOBAND OMIM SNP Hs.614736;Hs.614740;Hs.614748;Hs.614755;Hs.614758;Hs.614759;Hs.614762;Hs.614765;Hs.614773;Hs.614776;Hs.614782;Hs.614783;Hs.614787 4p15.31

Mutation - IntOGen Mutated from(ref) Mutated to(alt) Consequence Type AA Mutation CDS Mutation Chr Pos Cancer C A Missense p.A139S c.415G>T 4 17805350 HNSC C A Synonymous p.R133R c.399G>T 4 17805366 LUAD C G Missense p.E193Q c.577G>C 4 17805188 LUAD C G Missense p.W74S c.221G>C 4 17805544 CM C T Missense p.A159T c.475G>A 4 17805290 CM C T Missense p.E112K c.334G>A 4 17805431 HNSC C T Missense p.E38K c.112G>A 4 17805653 HNSC C T Synonymous p.L182L c.546G>A 4 17805219 UCEC G A Missense p.A139V c.416C>T 4 17805349 CM G A Missense p.H138Y c.412C>T 4 17805353 CM G A Missense p.P111S c.331C>T 4 17805434 CM G A Missense p.P161S c.481C>T 4 17805284 CM G A Missense p.P194L c.581C>T 4 17805184 CM G A Missense p.P6S c.16C>T 4 17805749 CM T C Missense p.T198A c.592A>G 4 17805173 OV T C Missense p.Y24C c.71A>G 4 17805694 HNSC T C Synonymous p.P109P c.327A>G 4 17805438 STAD