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 2 220149572 220149572 + Missense_Mutation SNP C C G TCGA-OR-A5L2-01A-11D-A30A-10 TCGA-OR-A5L2-10A-01D-A30A-10 g.chr2:220149572C>G c.838C>G c.(838-840)Cag>Gag p.Q280E BLCA 2 220145384 220145384 + Silent SNP C C T TCGA-LT-A5Z6-01A-11D-A289-08 TCGA-LT-A5Z6-10A-01D-A289-08 g.chr2:220145384C>T c.150C>T c.(148-150)gcC>gcT p.A50A BLCA 2 220146449 220146449 + Missense_Mutation SNP G G A TCGA-XF-A9SJ-01A-11D-A391-08 TCGA-XF-A9SJ-10A-01D-A394-08 g.chr2:220146449G>A c.185G>A c.(184-186)cGg>cAg p.R62Q BLCA 2 220147585 220147585 + Missense_Mutation SNP C C G TCGA-XF-AAMG-01A-11D-A42E-08 TCGA-XF-AAMG-10A-01D-A42H-08 g.chr2:220147585C>G c.379C>G c.(379-381)Cag>Gag p.Q127E BLCA 2 220147644 220147644 + Silent SNP G G A TCGA-BT-A20W-01A-21D-A14W-08 TCGA-BT-A20W-11A-11D-A14W-08 g.chr2:220147644G>A c.438G>A c.(436-438)ggG>ggA p.G146G BLCA 2 220149525 220149525 + Missense_Mutation SNP C C T TCGA-DK-AA6W-01A-12D-A391-08 TCGA-DK-AA6W-10A-01D-A394-08 g.chr2:220149525C>T c.791C>T c.(790-792)tCa>tTa p.S264L BRCA 2 220144582 220144582 + Silent SNP C C T TCGA-E2-A15I-01A-21D-A135-09 TCGA-E2-A15I-10A-01D-A135-09 g.chr2:220144582C>T c.27C>T c.(25-27)gaC>gaT p.D9D BRCA 2 220147923 220147923 + Missense_Mutation SNP A A C TCGA-A2-A0T5-01A-21D-A099-09 TCGA-A2-A0T5-10A-01D-A099-09 g.chr2:220147923A>C c.514A>C c.(514-516)Acc>Ccc p.T172P BRCA 2 220149662 220149662 + Missense_Mutation SNP C C T TCGA-AO-A128-01A-11D-A10M-09 TCGA-AO-A128-10A-01D-A10M-09 g.chr2:220149662C>T c.928C>T c.(928-930)Cgc>Tgc p.R310C CESC 2 220147867 220147867 + Nonsense_Mutation SNP C C A TCGA-C5-A1BQ-01C-11D-A20U-09 TCGA-C5-A1BQ-10A-01D-A20U-09 g.chr2:220147867C>A c.458C>A c.(457-459)tCa>tAa p.S153* COAD 2 220146761 220146761 + Silent SNP A A G TCGA-CM-6675-01A-11D-1835-10 TCGA-CM-6675-10A-01D-1835-10 g.chr2:220146761A>G c.330A>G c.(328-330)ggA>ggG p.G110G COAD 2 220149622 220149622 + Frame_Shift_Del DEL G G - TCGA-A6-6781-01A-22D-1924-10 TCGA-A6-6781-10A-01D-1924-10 g.chr2:220149622delG c.888delG c.(886-888)ttgfs p.L296fs COADREAD 2 220146761 220146761 + Silent SNP A A G TCGA-CM-6675-01A-11D-1835-10 TCGA-CM-6675-10A-01D-1835-10 g.chr2:220146761A>G c.330A>G c.(328-330)ggA>ggG p.G110G COADREAD 2 220149622 220149622 + Frame_Shift_Del DEL G G - TCGA-A6-6781-01A-22D-1924-10 TCGA-A6-6781-10A-01D-1924-10 g.chr2:220149622delG c.888delG c.(886-888)ttgfs p.L296fs ESCA 2 220149370 220149370 + Silent SNP G G T TCGA-L5-A4OI-01A-11D-A27G-09 TCGA-L5-A4OI-11A-11D-A27G-09 g.chr2:220149370G>T c.636G>T c.(634-636)ctG>ctT p.L212L ESCA 2 220149625 220149625 + Silent SNP G G A TCGA-R6-A8W8-01B-11D-A37C-09 TCGA-R6-A8W8-10A-01D-A37F-09 g.chr2:220149625G>A c.891G>A c.(889-891)ggG>ggA p.G297G GBMLGG 2 220149426 220149426 + Missense_Mutation SNP C C T TCGA-DU-6392-01A-11D-1705-08 TCGA-DU-6392-10A-01D-1705-08 g.chr2:220149426C>T c.692C>T c.(691-693)tCt>tTt p.S231F HNSC 2 220144591 220144591 + Silent SNP A A T TCGA-CR-7397-01A-11D-2012-08 TCGA-CR-7397-10A-01D-2013-08 g.chr2:220144591A>T c.36A>T c.(34-36)cgA>cgT p.R12R HNSC 2 220146750 220146750 + Frame_Shift_Del DEL T T - TCGA-F7-A50I-01A-11D-A28R-08 TCGA-F7-A50I-10A-01D-A28U-08 g.chr2:220146750delT c.319delT c.(319-321)tttfs p.F107fs KICH 2 220149586 220149586 + Missense_Mutation SNP G G T TCGA-KN-8423-01A-11D-2310-10 TCGA-KN-8423-11A-01D-2310-10 g.chr2:220149586G>T c.852G>T c.(850-852)caG>caT p.Q284H KIPAN 2 220149459 220149459 + Nonsense_Mutation SNP C C A TCGA-EV-5903-01A-11D-1589-08 TCGA-EV-5903-10A-01D-1589-08 g.chr2:220149459C>A c.725C>A c.(724-726)tCa>tAa p.S242* KIPAN 2 220149586 220149586 + Missense_Mutation SNP G G T TCGA-KN-8423-01A-11D-2310-10 TCGA-KN-8423-11A-01D-2310-10 g.chr2:220149586G>T c.852G>T c.(850-852)caG>caT p.Q284H KIPAN 2 220149689 220149689 + Missense_Mutation SNP T T C TCGA-B0-5098-01A-01D-1421-08 TCGA-B0-5098-11A-01D-1421-08 g.chr2:220149689T>C c.955T>C c.(955-957)Tct>Cct p.S319P KIPAN 2 220150708 220150708 + 3'UTR SNP G G T TCGA-DW-7834-01A-11D-2136-08 TCGA-DW-7834-10A-01D-2136-08 g.chr2:220150708G>T KIRC 2 220149689 220149689 + Missense_Mutation SNP T T C TCGA-B0-5098-01A-01D-1421-08 TCGA-B0-5098-11A-01D-1421-08 g.chr2:220149689T>C c.955T>C c.(955-957)Tct>Cct p.S319P KIRP 2 220149459 220149459 + Nonsense_Mutation SNP C C A TCGA-EV-5903-01A-11D-1589-08 TCGA-EV-5903-10A-01D-1589-08 g.chr2:220149459C>A c.725C>A c.(724-726)tCa>tAa p.S242* KIRP 2 220150708 220150708 + 3'UTR SNP G G T TCGA-DW-7834-01A-11D-2136-08 TCGA-DW-7834-10A-01D-2136-08 g.chr2:220150708G>T LGG 2 220149426 220149426 + Missense_Mutation SNP C C T TCGA-DU-6392-01A-11D-1705-08 TCGA-DU-6392-10A-01D-1705-08 g.chr2:220149426C>T c.692C>T c.(691-693)tCt>tTt p.S231F LIHC 2 220147607 220147607 + Missense_Mutation SNP C C T TCGA-DD-AADA-01A-11D-A40R-10 TCGA-DD-AADA-10A-01D-A40U-10 g.chr2:220147607C>T c.401C>T c.(400-402)tCa>tTa p.S134L LUAD 2 220146664 220146664 + Missense_Mutation SNP C C T TCGA-91-7771-01A-11D-2167-08 TCGA-91-7771-10A-01D-2167-08 g.chr2:220146664C>T c.233C>T c.(232-234)aCt>aTt p.T78I LUAD 2 220146675 220146675 + Silent SNP C C A TCGA-95-7567-01A-11D-2063-08 TCGA-95-7567-10A-01D-2063-08 g.chr2:220146675C>A c.244C>A c.(244-246)Cgg>Agg p.R82R LUAD 2 220147594 220147594 + Missense_Mutation SNP G G T TCGA-99-8025-01A-11D-2238-08 TCGA-99-8025-10A-01D-2238-08 g.chr2:220147594G>T c.388G>T c.(388-390)Ggt>Tgt p.G130C LUAD 2 220147600 220147600 + Nonsense_Mutation SNP C C T TCGA-05-4402-01A-01D-1265-08 TCGA-05-4402-10A-01D-1265-08 g.chr2:220147600C>T c.394C>T c.(394-396)Cga>Tga p.R132* LUAD 2 220147942 220147942 + Missense_Mutation SNP G G C TCGA-62-A46O-01A-11D-A24D-08 TCGA-62-A46O-10A-01D-A24F-08 g.chr2:220147942G>C c.533G>C c.(532-534)cGc>cCc p.R178P LUAD 2 220147946 220147946 + Silent SNP C C T TCGA-44-A47F-01A-11D-A24D-08 TCGA-44-A47F-10A-01D-A24F-08 g.chr2:220147946C>T c.537C>T c.(535-537)atC>atT p.I179I LUAD 2 220149365 220149365 + Missense_Mutation SNP G G T TCGA-86-6851-01A-11D-1945-08 TCGA-86-6851-10A-01D-1946-08 g.chr2:220149365G>T c.631G>T c.(631-633)Gac>Tac p.D211Y LUSC 2 220144589 220144589 + Missense_Mutation SNP C C G TCGA-21-1070-01A-01D-1521-08 TCGA-21-1070-11A-01D-1521-08 g.chr2:220144589C>G c.34C>G c.(34-36)Cga>Gga p.R12G LUSC 2 220147635 220147635 + Silent SNP C C T TCGA-18-3409-01A-01D-0983-08 TCGA-18-3409-11A-01D-0983-08 g.chr2:220147635C>T c.429C>T c.(427-429)tcC>tcT p.S143S PRAD 2 220145308 220145308 + Missense_Mutation SNP G G A TCGA-EJ-5519-01A-01D-1576-08 TCGA-EJ-5519-10A-01D-1577-08 g.chr2:220145308G>A c.74G>A c.(73-75)cGc>cAc p.R25H SARC 2 220147939 220147939 + Missense_Mutation SNP G G T TCGA-KD-A5QT-01A-11D-A27P-09 TCGA-KD-A5QT-10A-01D-A27P-09 g.chr2:220147939G>T c.530G>T c.(529-531)cGc>cTc p.R177L SKCM 2 220146473 220146473 + Missense_Mutation SNP G G T TCGA-EE-A182-06A-11D-A196-08 TCGA-EE-A182-10A-01D-A198-08 g.chr2:220146473G>T c.209G>T c.(208-210)cGg>cTg p.R70L SKCM 2 220146740 220146740 + Silent SNP C C T TCGA-EE-A29G-06A-12D-A196-08 TCGA-EE-A29G-10A-01D-A198-08 g.chr2:220146740C>T c.309C>T c.(307-309)ttC>ttT p.F103F SKCM 2 220147598 220147598 + Missense_Mutation SNP C C T TCGA-EE-A181-06A-11D-A196-08 TCGA-EE-A181-10A-01D-A198-08 g.chr2:220147598C>T c.392C>T c.(391-393)tCc>tTc p.S131F

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 2 220149445 220149445 single base substitution G A downstream_gene_variant BLCA-CN 2 220149445 220149445 single base substitution G A exon_variant BLCA-CN 2 220149445 220149445 single base substitution G A synonymous_variant Q206Q 618G>A BLCA-CN 2 220149445 220149445 single base substitution G A synonymous_variant Q237Q 711G>A BLCA-CN 2 220149445 220149445 single base substitution G A upstream_gene_variant BLCA-US 2 220147644 220147644 single base substitution G A downstream_gene_variant BLCA-US 2 220147644 220147644 single base substitution G A exon_variant BLCA-US 2 220147644 220147644 single base substitution G A intron_variant BLCA-US 2 220147644 220147644 single base substitution G A synonymous_variant G146G 438G>A BLCA-US 2 220147644 220147644 single base substitution G A upstream_gene_variant BRCA-EU 2 220139506 220139506 single base substitution C G upstream_gene_variant BRCA-EU 2 220140424 220140424 single base substitution T A upstream_gene_variant BRCA-EU 2 220140609 220140609 single base substitution C G upstream_gene_variant BRCA-EU 2 220141169 220141169 deletion of <=200bp T - upstream_gene_variant BRCA-EU 2 220149411 220149411 single base substitution C G downstream_gene_variant BRCA-EU 2 220149411 220149411 single base substitution C G exon_variant BRCA-EU 2 220149411 220149411 single base substitution C G stop_gained S195* 584C>G BRCA-EU 2 220149411 220149411 single base substitution C G stop_gained S226* 677C>G BRCA-EU 2 220149411 220149411 single base substitution C G upstream_gene_variant BRCA-EU 2 220150965 220150965 single base substitution C T 3_prime_UTR_variant BRCA-EU 2 220150965 220150965 single base substitution C T downstream_gene_variant BRCA-EU 2 220150965 220150965 single base substitution C T exon_variant BRCA-EU 2 220151340 220151340 single base substitution G A 3_prime_UTR_variant BRCA-EU 2 220151340 220151340 single base substitution G A downstream_gene_variant BRCA-EU 2 220151340 220151340 single base substitution G A exon_variant BRCA-EU 2 220151659 220151659 single base substitution G A downstream_gene_variant BRCA-EU 2 220151882 220151882 single base substitution C T downstream_gene_variant BRCA-EU 2 220153587 220153590 deletion of <=200bp AGGT - downstream_gene_variant BRCA-EU 2 220153595 220153595 single base substitution C G downstream_gene_variant BRCA-EU 2 220153602 220153602 single base substitution G A downstream_gene_variant BRCA-EU 2 220154647 220154647 insertion of <=200bp - CG downstream_gene_variant BRCA-FR 2 220150965 220150965 single base substitution C T 3_prime_UTR_variant BRCA-FR 2 220150965 220150965 single base substitution C T downstream_gene_variant BRCA-FR 2 220150965 220150965 single base substitution C T exon_variant BRCA-FR 2 220153595 220153595 single base substitution C G downstream_gene_variant BRCA-FR 2 220155401 220155401 single base substitution G A downstream_gene_variant BRCA-US 2 220144582 220144582 single base substitution C T exon_variant BRCA-US 2 220144582 220144582 single base substitution C T synonymous_variant D9D 27C>T BRCA-US 2 220144582 220144582 single base substitution C T upstream_gene_variant BRCA-US 2 220147923 220147923 single base substitution A C downstream_gene_variant BRCA-US 2 220147923 220147923 single base substitution A C exon_variant BRCA-US 2 220147923 220147923 single base substitution A C missense_variant T141P 421A>C BRCA-US 2 220147923 220147923 single base substitution A C missense_variant T172P 514A>C BRCA-US 2 220147923 220147923 single base substitution A C upstream_gene_variant BRCA-US 2 220149662 220149662 single base substitution C T downstream_gene_variant BRCA-US 2 220149662 220149662 single base substitution C T exon_variant BRCA-US 2 220149662 220149662 single base substitution C T intron_variant BRCA-US 2 220149662 220149662 single base substitution C T missense_variant R310C 928C>T BRCA-US 2 220149662 220149662 single base substitution C T upstream_gene_variant BRCA-US 2 220155281 220155281 single base substitution C A downstream_gene_variant BTCA-JP 2 220145422 220145422 single base substitution G A downstream_gene_variant BTCA-JP 2 220145422 220145422 single base substitution G A exon_variant BTCA-JP 2 220145422 220145422 single base substitution G A intron_variant BTCA-JP 2 220145422 220145422 single base substitution G A upstream_gene_variant BTCA-JP 2 220154907 220154907 single base substitution A G downstream_gene_variant BTCA-JP 2 220154929 220154929 single base substitution G A downstream_gene_variant CESC-US 2 220147867 220147867 single base substitution C A downstream_gene_variant CESC-US 2 220147867 220147867 single base substitution C A exon_variant CESC-US 2 220147867 220147867 single base substitution C A stop_gained S122* 365C>A CESC-US 2 220147867 220147867 single base substitution C A stop_gained S153* 458C>A CESC-US 2 220147867 220147867 single base substitution C A upstream_gene_variant CESC-US 2 220154978 220154978 single base substitution C T downstream_gene_variant CLLE-ES 2 220147442 220147442 single base substitution C T downstream_gene_variant CLLE-ES 2 220147442 220147442 single base substitution C T exon_variant CLLE-ES 2 220147442 220147442 single base substitution C T intron_variant CLLE-ES 2 220147442 220147442 single base substitution C T upstream_gene_variant COAD-US 2 220146464 220146464 single base substitution G A downstream_gene_variant COAD-US 2 220146464 220146464 single base substitution G A exon_variant COAD-US 2 220146464 220146464 single base substitution G A missense_variant R67H 200G>A COAD-US 2 220146464 220146464 single base substitution G A upstream_gene_variant COAD-US 2 220149622 220149622 deletion of <=200bp G - downstream_gene_variant COAD-US 2 220149622 220149622 deletion of <=200bp G - exon_variant COAD-US 2 220149622 220149622 deletion of <=200bp G - frameshift_variant L296 COAD-US 2 220149622 220149622 deletion of <=200bp G - intron_variant COAD-US 2 220149622 220149622 deletion of <=200bp G - upstream_gene_variant COAD-US 2 220155267 220155267 single base substitution C T downstream_gene_variant COAD-US 2 220155309 220155309 single base substitution G A downstream_gene_variant COAD-US 2 220155312 220155312 single base substitution G A downstream_gene_variant COCA-CN 2 220144815 220144815 single base substitution T C exon_variant COCA-CN 2 220144815 220144815 single base substitution T C intron_variant COCA-CN 2 220144815 220144815 single base substitution T C upstream_gene_variant COCA-CN 2 220147591 220147591 single base substitution C T downstream_gene_variant COCA-CN 2 220147591 220147591 single base substitution C T exon_variant COCA-CN 2 220147591 220147591 single base substitution C T intron_variant COCA-CN 2 220147591 220147591 single base substitution C T missense_variant R129W 385C>T COCA-CN 2 220147591 220147591 single base substitution C T upstream_gene_variant COCA-CN 2 220147942 220147942 single base substitution G A downstream_gene_variant COCA-CN 2 220147942 220147942 single base substitution G A exon_variant COCA-CN 2 220147942 220147942 single base substitution G A missense_variant R147H 440G>A COCA-CN 2 220147942 220147942 single base substitution G A missense_variant R178H 533G>A COCA-CN 2 220147942 220147942 single base substitution G A upstream_gene_variant COCA-CN 2 220149693 220149693 single base substitution G A downstream_gene_variant COCA-CN 2 220149693 220149693 single base substitution G A exon_variant COCA-CN 2 220149693 220149693 single base substitution G A intron_variant COCA-CN 2 220149693 220149693 single base substitution G A missense_variant R320H 959G>A COCA-CN 2 220149693 220149693 single base substitution G A upstream_gene_variant COCA-CN 2 220149815 220149815 single base substitution C T 3_prime_UTR_variant COCA-CN 2 220149815 220149815 single base substitution C T downstream_gene_variant COCA-CN 2 220149815 220149815 single base substitution C T exon_variant COCA-CN 2 220149815 220149815 single base substitution C T intron_variant COCA-CN 2 220149815 220149815 single base substitution C T upstream_gene_variant EOPC-DE 2 220154320 220154320 single base substitution G A downstream_gene_variant ESAD-UK 2 220140587 220140587 single base substitution C A upstream_gene_variant ESAD-UK 2 220140812 220140812 insertion of <=200bp - T upstream_gene_variant ESAD-UK 2 220141502 220141502 single base substitution C T upstream_gene_variant ESAD-UK 2 220143898 220143898 single base substitution G A upstream_gene_variant ESAD-UK 2 220147954 220147954 single base substitution G A downstream_gene_variant ESAD-UK 2 220147954 220147954 single base substitution G A exon_variant ESAD-UK 2 220147954 220147954 single base substitution G A missense_variant R151H 452G>A ESAD-UK 2 220147954 220147954 single base substitution G A missense_variant R182H 545G>A ESAD-UK 2 220147954 220147954 single base substitution G A upstream_gene_variant ESAD-UK 2 220148153 220148153 single base substitution C A downstream_gene_variant ESAD-UK 2 220148153 220148153 single base substitution C A exon_variant ESAD-UK 2 220148153 220148153 single base substitution C A missense_variant N156K 468C>A ESAD-UK 2 220148153 220148153 single base substitution C A missense_variant N187K 561C>A ESAD-UK 2 220148153 220148153 single base substitution C A upstream_gene_variant ESAD-UK 2 220151067 220151067 single base substitution G T 3_prime_UTR_variant ESAD-UK 2 220151067 220151067 single base substitution G T downstream_gene_variant ESAD-UK 2 220151067 220151067 single base substitution G T exon_variant ESAD-UK 2 220154259 220154259 single base substitution C T downstream_gene_variant ESAD-UK 2 220155597 220155597 single base substitution C T downstream_gene_variant ESAD-UK 2 220156094 220156094 single base substitution G A downstream_gene_variant ESCA-CN 2 220149669 220149669 single base substitution C T downstream_gene_variant ESCA-CN 2 220149669 220149669 single base substitution C T exon_variant ESCA-CN 2 220149669 220149669 single base substitution C T intron_variant ESCA-CN 2 220149669 220149669 single base substitution C T missense_variant P312L 935C>T ESCA-CN 2 220149669 220149669 single base substitution C T upstream_gene_variant ESCA-CN 2 220152909 220152910 deletion of <=200bp TA - downstream_gene_variant LAML-KR 2 220141036 220141036 single base substitution C A upstream_gene_variant LAML-KR 2 220153648 220153648 single base substitution G T downstream_gene_variant LICA-FR 2 220147609 220147609 single base substitution G A downstream_gene_variant LICA-FR 2 220147609 220147609 single base substitution G A exon_variant LICA-FR 2 220147609 220147609 single base substitution G A intron_variant LICA-FR 2 220147609 220147609 single base substitution G A missense_variant G135S 403G>A LICA-FR 2 220147609 220147609 single base substitution G A upstream_gene_variant LICA-FR 2 220150226 220150226 single base substitution G T 3_prime_UTR_variant LICA-FR 2 220150226 220150226 single base substitution G T downstream_gene_variant LICA-FR 2 220150226 220150226 single base substitution G T exon_variant LICA-FR 2 220150226 220150226 single base substitution G T intron_variant LICA-FR 2 220155600 220155600 deletion of <=200bp C - downstream_gene_variant LINC-JP 2 220146472 220146472 single base substitution C G downstream_gene_variant LINC-JP 2 220146472 220146472 single base substitution C G exon_variant LINC-JP 2 220146472 220146472 single base substitution C G missense_variant R70G 208C>G LINC-JP 2 220146472 220146472 single base substitution C G upstream_gene_variant LIRI-JP 2 220139748 220139748 single base substitution T C upstream_gene_variant LIRI-JP 2 220143037 220143037 single base substitution A G upstream_gene_variant LIRI-JP 2 220145620 220145620 single base substitution A T downstream_gene_variant LIRI-JP 2 220145620 220145620 single base substitution A T exon_variant LIRI-JP 2 220145620 220145620 single base substitution A T intron_variant LIRI-JP 2 220145620 220145620 single base substitution A T upstream_gene_variant LIRI-JP 2 220148249 220148249 single base substitution G A downstream_gene_variant LIRI-JP 2 220148249 220148249 single base substitution G A intron_variant LIRI-JP 2 220148249 220148249 single base substitution G A upstream_gene_variant LIRI-JP 2 220149668 220149668 single base substitution C T downstream_gene_variant LIRI-JP 2 220149668 220149668 single base substitution C T exon_variant LIRI-JP 2 220149668 220149668 single base substitution C T intron_variant LIRI-JP 2 220149668 220149668 single base substitution C T missense_variant P312S 934C>T LIRI-JP 2 220149668 220149668 single base substitution C T upstream_gene_variant LIRI-JP 2 220151040 220151040 single base substitution G A 3_prime_UTR_variant LIRI-JP 2 220151040 220151040 single base substitution G A downstream_gene_variant LIRI-JP 2 220151040 220151040 single base substitution G A exon_variant LIRI-JP 2 220151656 220151656 single base substitution G A downstream_gene_variant LIRI-JP 2 220152467 220152467 single base substitution C G downstream_gene_variant LIRI-JP 2 220153486 220153486 single base substitution G C downstream_gene_variant LUSC-KR 2 220143977 220143977 single base substitution C A upstream_gene_variant LUSC-KR 2 220154317 220154317 single base substitution A C downstream_gene_variant LUSC-KR 2 220155930 220155930 single base substitution G A downstream_gene_variant LUSC-US 2 220144589 220144589 single base substitution C G exon_variant LUSC-US 2 220144589 220144589 single base substitution C G missense_variant R12G 34C>G LUSC-US 2 220144589 220144589 single base substitution C G upstream_gene_variant LUSC-US 2 220147635 220147635 single base substitution C T downstream_gene_variant LUSC-US 2 220147635 220147635 single base substitution C T exon_variant LUSC-US 2 220147635 220147635 single base substitution C T intron_variant LUSC-US 2 220147635 220147635 single base substitution C T synonymous_variant S143S 429C>T LUSC-US 2 220147635 220147635 single base substitution C T upstream_gene_variant LUSC-US 2 220156190 220156190 single base substitution A T downstream_gene_variant MALY-DE 2 220149319 220149319 single base substitution A G downstream_gene_variant MALY-DE 2 220149319 220149319 single base substitution A G intron_variant MALY-DE 2 220149319 220149319 single base substitution A G upstream_gene_variant MELA-AU 2 220139008 220139008 single base substitution C T upstream_gene_variant MELA-AU 2 220139171 220139171 single base substitution C T upstream_gene_variant MELA-AU 2 220139216 220139216 single base substitution G A upstream_gene_variant MELA-AU 2 220139335 220139335 single base substitution C T upstream_gene_variant MELA-AU 2 220139448 220139448 single base substitution G A upstream_gene_variant MELA-AU 2 220140011 220140011 single base substitution G A upstream_gene_variant MELA-AU 2 220140036 220140037 multiple base substitution (>=2bp and <=200bp) CC TT upstream_gene_variant MELA-AU 2 220140076 220140076 single base substitution T C upstream_gene_variant MELA-AU 2 220140472 220140472 single base substitution G A upstream_gene_variant MELA-AU 2 220140859 220140859 single base substitution C T upstream_gene_variant MELA-AU 2 220141230 220141230 single base substitution C T upstream_gene_variant MELA-AU 2 220141421 220141421 single base substitution G A upstream_gene_variant MELA-AU 2 220141580 220141580 single base substitution G A upstream_gene_variant MELA-AU 2 220141621 220141621 single base substitution G A upstream_gene_variant MELA-AU 2 220141754 220141754 single base substitution C T upstream_gene_variant MELA-AU 2 220142414 220142414 single base substitution G A upstream_gene_variant MELA-AU 2 220142563 220142563 single base substitution C T upstream_gene_variant MELA-AU 2 220142785 220142785 single base substitution G A upstream_gene_variant MELA-AU 2 220143413 220143413 single base substitution C T upstream_gene_variant MELA-AU 2 220144440 220144441 multiple base substitution (>=2bp and <=200bp) CC TT 5_prime_UTR_variant MELA-AU 2 220144440 220144441 multiple base substitution (>=2bp and <=200bp) CC TT exon_variant MELA-AU 2 220144440 220144441 multiple base substitution (>=2bp and <=200bp) CC TT intron_variant MELA-AU 2 220144440 220144441 multiple base substitution (>=2bp and <=200bp) CC TT upstream_gene_variant MELA-AU 2 220144495 220144495 single base substitution C T 5_prime_UTR_variant MELA-AU 2 220144495 220144495 single base substitution C T exon_variant MELA-AU 2 220144495 220144495 single base substitution C T intron_variant MELA-AU 2 220144495 220144495 single base substitution C T upstream_gene_variant MELA-AU 2 220144899 220144899 single base substitution C T downstream_gene_variant MELA-AU 2 220144899 220144899 single base substitution C T intron_variant MELA-AU 2 220144899 220144899 single base substitution C T upstream_gene_variant MELA-AU 2 220144900 220144900 single base substitution C T downstream_gene_variant MELA-AU 2 220144900 220144900 single base substitution C T intron_variant MELA-AU 2 220144900 220144900 single base substitution C T upstream_gene_variant MELA-AU 2 220144917 220144917 single base substitution C T downstream_gene_variant MELA-AU 2 220144917 220144917 single base substitution C T intron_variant MELA-AU 2 220144917 220144917 single base substitution C T upstream_gene_variant MELA-AU 2 220144971 220144971 single base substitution C T downstream_gene_variant MELA-AU 2 220144971 220144971 single base substitution C T intron_variant MELA-AU 2 220144971 220144971 single base substitution C T upstream_gene_variant MELA-AU 2 220145213 220145213 single base substitution C T downstream_gene_variant MELA-AU 2 220145213 220145213 single base substitution C T intron_variant MELA-AU 2 220145213 220145213 single base substitution C T upstream_gene_variant MELA-AU 2 220145249 220145249 single base substitution A T downstream_gene_variant MELA-AU 2 220145249 220145249 single base substitution A T intron_variant MELA-AU 2 220145249 220145249 single base substitution A T upstream_gene_variant MELA-AU 2 220145305 220145306 multiple base substitution (>=2bp and <=200bp) GG AA downstream_gene_variant MELA-AU 2 220145305 220145306 multiple base substitution (>=2bp and <=200bp) GG AA exon_variant MELA-AU 2 220145305 220145306 multiple base substitution (>=2bp and <=200bp) GG AA missense_variant R24Q 71GG>AA MELA-AU 2 220145305 220145306 multiple base substitution (>=2bp and <=200bp) GG AA upstream_gene_variant MELA-AU 2 220145519 220145519 single base substitution C T downstream_gene_variant MELA-AU 2 220145519 220145519 single base substitution C T exon_variant MELA-AU 2 220145519 220145519 single base substitution C T intron_variant MELA-AU 2 220145519 220145519 single base substitution C T upstream_gene_variant MELA-AU 2 220145618 220145618 single base substitution G A downstream_gene_variant MELA-AU 2 220145618 220145618 single base substitution G A exon_variant MELA-AU 2 220145618 220145618 single base substitution G A intron_variant MELA-AU 2 220145618 220145618 single base substitution G A upstream_gene_variant MELA-AU 2 220146401 220146401 single base substitution C T downstream_gene_variant MELA-AU 2 220146401 220146401 single base substitution C T exon_variant MELA-AU 2 220146401 220146401 single base substitution C T intron_variant MELA-AU 2 220146401 220146401 single base substitution C T upstream_gene_variant MELA-AU 2 220147669 220147669 single base substitution C T downstream_gene_variant MELA-AU 2 220147669 220147669 single base substitution C T exon_variant MELA-AU 2 220147669 220147669 single base substitution C T intron_variant MELA-AU 2 220147669 220147669 single base substitution C T upstream_gene_variant MELA-AU 2 220147870 220147870 single base substitution C T downstream_gene_variant MELA-AU 2 220147870 220147870 single base substitution C T exon_variant MELA-AU 2 220147870 220147870 single base substitution C T missense_variant S123F 368C>T MELA-AU 2 220147870 220147870 single base substitution C T missense_variant S154F 461C>T MELA-AU 2 220147870 220147870 single base substitution C T upstream_gene_variant MELA-AU 2 220148403 220148403 single base substitution C T downstream_gene_variant MELA-AU 2 220148403 220148403 single base substitution C T intron_variant MELA-AU 2 220148403 220148403 single base substitution C T upstream_gene_variant MELA-AU 2 220148496 220148496 single base substitution G A downstream_gene_variant MELA-AU 2 220148496 220148496 single base substitution G A intron_variant MELA-AU 2 220148496 220148496 single base substitution G A upstream_gene_variant MELA-AU 2 220148809 220148809 single base substitution C T downstream_gene_variant MELA-AU 2 220148809 220148809 single base substitution C T intron_variant MELA-AU 2 220148809 220148809 single base substitution C T upstream_gene_variant MELA-AU 2 220149657 220149658 multiple base substitution (>=2bp and <=200bp) CC TT downstream_gene_variant MELA-AU 2 220149657 220149658 multiple base substitution (>=2bp and <=200bp) CC TT exon_variant MELA-AU 2 220149657 220149658 multiple base substitution (>=2bp and <=200bp) CC TT intron_variant MELA-AU 2 220149657 220149658 multiple base substitution (>=2bp and <=200bp) CC TT missense_variant T308I 923CC>TT MELA-AU 2 220149657 220149658 multiple base substitution (>=2bp and <=200bp) CC TT upstream_gene_variant MELA-AU 2 220149837 220149837 single base substitution C T 3_prime_UTR_variant MELA-AU 2 220149837 220149837 single base substitution C T downstream_gene_variant MELA-AU 2 220149837 220149837 single base substitution C T exon_variant MELA-AU 2 220149837 220149837 single base substitution C T intron_variant MELA-AU 2 220149837 220149837 single base substitution C T upstream_gene_variant MELA-AU 2 220149962 220149962 single base substitution T C 3_prime_UTR_variant MELA-AU 2 220149962 220149962 single base substitution T C downstream_gene_variant MELA-AU 2 220149962 220149962 single base substitution T C exon_variant MELA-AU 2 220149962 220149962 single base substitution T C intron_variant MELA-AU 2 220149962 220149962 single base substitution T C upstream_gene_variant MELA-AU 2 220151600 220151600 single base substitution T G 3_prime_UTR_variant MELA-AU 2 220151600 220151600 single base substitution T G downstream_gene_variant MELA-AU 2 220151600 220151600 single base substitution T G exon_variant MELA-AU 2 220151616 220151616 single base substitution G A 3_prime_UTR_variant MELA-AU 2 220151616 220151616 single base substitution G A downstream_gene_variant MELA-AU 2 220151616 220151616 single base substitution G A exon_variant MELA-AU 2 220152098 220152098 single base substitution C A downstream_gene_variant MELA-AU 2 220152513 220152513 single base substitution C T downstream_gene_variant MELA-AU 2 220152514 220152514 single base substitution C T downstream_gene_variant MELA-AU 2 220152554 220152554 single base substitution C T downstream_gene_variant MELA-AU 2 220152926 220152926 single base substitution C T downstream_gene_variant MELA-AU 2 220152964 220152964 single base substitution C T downstream_gene_variant MELA-AU 2 220152983 220152983 single base substitution C T downstream_gene_variant MELA-AU 2 220153449 220153449 single base substitution C T downstream_gene_variant MELA-AU 2 220153654 220153654 single base substitution G A downstream_gene_variant MELA-AU 2 220153791 220153791 single base substitution G T downstream_gene_variant MELA-AU 2 220154214 220154214 single base substitution G A downstream_gene_variant MELA-AU 2 220154798 220154798 single base substitution C T downstream_gene_variant MELA-AU 2 220154816 220154816 single base substitution C T downstream_gene_variant MELA-AU 2 220154914 220154914 single base substitution G A downstream_gene_variant MELA-AU 2 220155086 220155086 single base substitution G A downstream_gene_variant MELA-AU 2 220155143 220155143 single base substitution G A downstream_gene_variant MELA-AU 2 220155326 220155326 single base substitution C T downstream_gene_variant MELA-AU 2 220155329 220155329 single base substitution C T downstream_gene_variant MELA-AU 2 220155378 220155378 single base substitution G A downstream_gene_variant MELA-AU 2 220155399 220155399 single base substitution C T downstream_gene_variant MELA-AU 2 220155479 220155479 single base substitution G A downstream_gene_variant MELA-AU 2 220155509 220155509 single base substitution G A downstream_gene_variant MELA-AU 2 220155608 220155608 single base substitution C T downstream_gene_variant MELA-AU 2 220156404 220156404 single base substitution G A downstream_gene_variant MELA-AU 2 220156495 220156495 single base substitution C T downstream_gene_variant OV-AU 2 220139064 220139064 single base substitution T G upstream_gene_variant OV-AU 2 220143906 220143906 single base substitution A C upstream_gene_variant OV-AU 2 220145777 220145777 single base substitution C G downstream_gene_variant OV-AU 2 220145777 220145777 single base substitution C G exon_variant OV-AU 2 220145777 220145777 single base substitution C G intron_variant OV-AU 2 220145777 220145777 single base substitution C G upstream_gene_variant OV-AU 2 220152468 220152468 single base substitution C A downstream_gene_variant OV-AU 2 220154591 220154591 single base substitution A C downstream_gene_variant PACA-AU 2 220140107 220140110 deletion of <=200bp TTTG - upstream_gene_variant PACA-AU 2 220141097 220141097 single base substitution A C upstream_gene_variant PACA-AU 2 220144080 220144080 single base substitution C A 5_prime_UTR_variant PACA-AU 2 220144080 220144080 single base substitution C A upstream_gene_variant PACA-AU 2 220149037 220149037 deletion of <=200bp A - downstream_gene_variant PACA-AU 2 220149037 220149037 deletion of <=200bp A - intron_variant PACA-AU 2 220149037 220149037 deletion of <=200bp A - upstream_gene_variant PACA-CA 2 220139557 220139557 single base substitution C T upstream_gene_variant PACA-CA 2 220140930 220140930 single base substitution C T upstream_gene_variant PACA-CA 2 220142431 220142431 single base substitution G T upstream_gene_variant PACA-CA 2 220143115 220143115 single base substitution G A upstream_gene_variant PACA-CA 2 220143696 220143696 deletion of <=200bp G - upstream_gene_variant PACA-CA 2 220144231 220144231 single base substitution G A 5_prime_UTR_variant PACA-CA 2 220144231 220144231 single base substitution G A exon_variant PACA-CA 2 220144231 220144231 single base substitution G A intron_variant PACA-CA 2 220144231 220144231 single base substitution G A upstream_gene_variant PACA-CA 2 220146903 220146903 single base substitution A G downstream_gene_variant PACA-CA 2 220146903 220146903 single base substitution A G exon_variant PACA-CA 2 220146903 220146903 single base substitution A G intron_variant PACA-CA 2 220146903 220146903 single base substitution A G upstream_gene_variant PACA-CA 2 220147673 220147673 single base substitution G A downstream_gene_variant PACA-CA 2 220147673 220147673 single base substitution G A exon_variant PACA-CA 2 220147673 220147673 single base substitution G A intron_variant PACA-CA 2 220147673 220147673 single base substitution G A upstream_gene_variant PACA-CA 2 220150991 220150991 single base substitution G C 3_prime_UTR_variant PACA-CA 2 220150991 220150991 single base substitution G C downstream_gene_variant PACA-CA 2 220150991 220150991 single base substitution G C exon_variant PACA-CA 2 220151393 220151393 single base substitution C T 3_prime_UTR_variant PACA-CA 2 220151393 220151393 single base substitution C T downstream_gene_variant PACA-CA 2 220151393 220151393 single base substitution C T exon_variant PACA-CA 2 220152181 220152181 single base substitution C T downstream_gene_variant PACA-CA 2 220152810 220152810 single base substitution G A downstream_gene_variant PACA-CA 2 220153954 220153954 single base substitution C T downstream_gene_variant PACA-CA 2 220155080 220155080 single base substitution A G downstream_gene_variant PACA-CA 2 220155368 220155368 single base substitution G T downstream_gene_variant PACA-CA 2 220155560 220155560 single base substitution G A downstream_gene_variant PACA-CA 2 220156155 220156155 single base substitution G T downstream_gene_variant PAEN-AU 2 220144046 220144046 single base substitution C A 5_prime_UTR_variant PAEN-AU 2 220144046 220144046 single base substitution C A upstream_gene_variant PAEN-IT 2 220156570 220156570 single base substitution C T downstream_gene_variant PBCA-DE 2 220142489 220142489 single base substitution C T upstream_gene_variant PBCA-DE 2 220150362 220150362 single base substitution C T 3_prime_UTR_variant PBCA-DE 2 220150362 220150362 single base substitution C T downstream_gene_variant PBCA-DE 2 220150362 220150362 single base substitution C T exon_variant PBCA-DE 2 220150362 220150362 single base substitution C T intron_variant PBCA-DE 2 220153307 220153307 single base substitution G A downstream_gene_variant PRAD-CA 2 220146958 220146958 single base substitution C A downstream_gene_variant PRAD-CA 2 220146958 220146958 single base substitution C A exon_variant PRAD-CA 2 220146958 220146958 single base substitution C A intron_variant PRAD-CA 2 220146958 220146958 single base substitution C A upstream_gene_variant PRAD-CA 2 220154478 220154478 single base substitution C T downstream_gene_variant PRAD-UK 2 220145966 220145966 insertion of <=200bp - CA downstream_gene_variant PRAD-UK 2 220145966 220145966 insertion of <=200bp - CA exon_variant PRAD-UK 2 220145966 220145966 insertion of <=200bp - CA intron_variant PRAD-UK 2 220145966 220145966 insertion of <=200bp - CA upstream_gene_variant PRAD-US 2 220145308 220145308 single base substitution G A downstream_gene_variant PRAD-US 2 220145308 220145308 single base substitution G A exon_variant PRAD-US 2 220145308 220145308 single base substitution G A missense_variant R25H 74G>A PRAD-US 2 220145308 220145308 single base substitution G A upstream_gene_variant RECA-EU 2 220140345 220140345 single base substitution G C upstream_gene_variant RECA-EU 2 220151274 220151274 single base substitution G T 3_prime_UTR_variant RECA-EU 2 220151274 220151274 single base substitution G T downstream_gene_variant RECA-EU 2 220151274 220151274 single base substitution G T exon_variant SKCA-BR 2 220139885 220139885 single base substitution G A upstream_gene_variant SKCA-BR 2 220140472 220140472 single base substitution G A upstream_gene_variant SKCA-BR 2 220141058 220141060 deletion of <=200bp CAA - upstream_gene_variant SKCA-BR 2 220141801 220141801 single base substitution A C upstream_gene_variant SKCA-BR 2 220141904 220141904 single base substitution C T upstream_gene_variant SKCA-BR 2 220143380 220143380 single base substitution G A upstream_gene_variant SKCA-BR 2 220143414 220143414 single base substitution C T upstream_gene_variant SKCA-BR 2 220150145 220150145 single base substitution C T 3_prime_UTR_variant SKCA-BR 2 220150145 220150145 single base substitution C T downstream_gene_variant SKCA-BR 2 220150145 220150145 single base substitution C T exon_variant SKCA-BR 2 220150145 220150145 single base substitution C T intron_variant SKCA-BR 2 220150857 220150857 single base substitution C G 3_prime_UTR_variant SKCA-BR 2 220150857 220150857 single base substitution C G downstream_gene_variant SKCA-BR 2 220150857 220150857 single base substitution C G exon_variant SKCA-BR 2 220151710 220151710 single base substitution C T downstream_gene_variant SKCA-BR 2 220152618 220152618 insertion of <=200bp - CA downstream_gene_variant SKCA-BR 2 220155738 220155738 single base substitution G A downstream_gene_variant SKCM-US 2 220146473 220146473 single base substitution G T downstream_gene_variant SKCM-US 2 220146473 220146473 single base substitution G T exon_variant SKCM-US 2 220146473 220146473 single base substitution G T missense_variant R70L 209G>T SKCM-US 2 220146473 220146473 single base substitution G T upstream_gene_variant SKCM-US 2 220146740 220146740 single base substitution C T downstream_gene_variant SKCM-US 2 220146740 220146740 single base substitution C T exon_variant SKCM-US 2 220146740 220146740 single base substitution C T synonymous_variant F103F 309C>T SKCM-US 2 220146740 220146740 single base substitution C T upstream_gene_variant SKCM-US 2 220147566 220147566 single base substitution G T downstream_gene_variant SKCM-US 2 220147566 220147566 single base substitution G T exon_variant SKCM-US 2 220147566 220147566 single base substitution G T intron_variant SKCM-US 2 220147566 220147566 single base substitution G T synonymous_variant L120L 360G>T SKCM-US 2 220147566 220147566 single base substitution G T upstream_gene_variant SKCM-US 2 220147598 220147598 single base substitution C T downstream_gene_variant SKCM-US 2 220147598 220147598 single base substitution C T exon_variant SKCM-US 2 220147598 220147598 single base substitution C T intron_variant SKCM-US 2 220147598 220147598 single base substitution C T missense_variant S131F 392C>T SKCM-US 2 220147598 220147598 single base substitution C T upstream_gene_variant SKCM-US 2 220155547 220155547 single base substitution C T downstream_gene_variant SKCM-US 2 220155602 220155602 single base substitution C T downstream_gene_variant SKCM-US 2 220156210 220156210 single base substitution G A downstream_gene_variant SKCM-US 2 220156215 220156215 single base substitution G A downstream_gene_variant STAD-US 2 220145307 220145307 single base substitution C T downstream_gene_variant STAD-US 2 220145307 220145307 single base substitution C T exon_variant STAD-US 2 220145307 220145307 single base substitution C T missense_variant R25C 73C>T STAD-US 2 220145307 220145307 single base substitution C T upstream_gene_variant STAD-US 2 220146725 220146725 deletion of <=200bp C - downstream_gene_variant STAD-US 2 220146725 220146725 deletion of <=200bp C - exon_variant STAD-US 2 220146725 220146725 deletion of <=200bp C - frameshift_variant S98 STAD-US 2 220146725 220146725 deletion of <=200bp C - upstream_gene_variant STAD-US 2 220147591 220147591 single base substitution C T downstream_gene_variant STAD-US 2 220147591 220147591 single base substitution C T exon_variant STAD-US 2 220147591 220147591 single base substitution C T intron_variant STAD-US 2 220147591 220147591 single base substitution C T missense_variant R129W 385C>T STAD-US 2 220147591 220147591 single base substitution C T upstream_gene_variant STAD-US 2 220149365 220149365 single base substitution G A downstream_gene_variant STAD-US 2 220149365 220149365 single base substitution G A exon_variant STAD-US 2 220149365 220149365 single base substitution G A missense_variant D180N 538G>A STAD-US 2 220149365 220149365 single base substitution G A missense_variant D211N 631G>A STAD-US 2 220149365 220149365 single base substitution G A upstream_gene_variant STAD-US 2 220149476 220149476 single base substitution G A downstream_gene_variant STAD-US 2 220149476 220149476 single base substitution G A exon_variant STAD-US 2 220149476 220149476 single base substitution G A missense_variant D217N 649G>A STAD-US 2 220149476 220149476 single base substitution G A missense_variant D248N 742G>A STAD-US 2 220149476 220149476 single base substitution G A upstream_gene_variant UCEC-US 2 220145301 220145301 single base substitution T C downstream_gene_variant UCEC-US 2 220145301 220145301 single base substitution T C missense_variant Y23H 67T>C UCEC-US 2 220145301 220145301 single base substitution T C splice_region_variant UCEC-US 2 220145301 220145301 single base substitution T C upstream_gene_variant UCEC-US 2 220145304 220145304 single base substitution C T downstream_gene_variant UCEC-US 2 220145304 220145304 single base substitution C T exon_variant UCEC-US 2 220145304 220145304 single base substitution C T missense_variant R24W 70C>T UCEC-US 2 220145304 220145304 single base substitution C T upstream_gene_variant UCEC-US 2 220145359 220145359 single base substitution C T downstream_gene_variant UCEC-US 2 220145359 220145359 single base substitution C T exon_variant UCEC-US 2 220145359 220145359 single base substitution C T missense_variant A42V 125C>T UCEC-US 2 220145359 220145359 single base substitution C T upstream_gene_variant UCEC-US 2 220147859 220147859 single base substitution C A downstream_gene_variant UCEC-US 2 220147859 220147859 single base substitution C A exon_variant UCEC-US 2 220147859 220147859 single base substitution C A missense_variant F119L 357C>A UCEC-US 2 220147859 220147859 single base substitution C A missense_variant F150L 450C>A UCEC-US 2 220147859 220147859 single base substitution C A upstream_gene_variant UCEC-US 2 220155559 220155559 single base substitution C T downstream_gene_variant

Mutation - COSMIC Sample Name Mutation ID Mutation CDS Mutation AA Mutation Description Mutation Genome Position Mutation Strand LUAD-B00416 COSM390995 c.450delC p.S151fs*50 Deletion - Frameshift 2:219283137-219283137 + PTC-10C COSM4133478 c.42G>A p.A14A Substitution - coding silent 2:219279875-219279875 + TCGA-AO-A128-01 COSM3838656 c.928C>T p.R310C Substitution - Missense 2:219284940-219284940 + sysucc-325T COSM4091653 c.385C>T p.R129W Substitution - Missense 2:219282869-219282869 + TCGA-EE-A182-06 COSM3577946 c.209G>T p.R70L Substitution - Missense 2:219281751-219281751 + TCGA-D1-A174-01 COSM1016709 c.70C>T p.R24W Substitution - Missense 2:219280582-219280582 + 2521243 COSM5886144 c.444C>T p.S148S Substitution - coding silent 2:219282928-219282928 + DLD1 COSM3044819 c.238C>A p.P80T Substitution - Missense 2:219281947-219281947 + TCGA-EE-A2MD-06 COSM3577950 c.360G>T p.L120L Substitution - coding silent 2:219282844-219282844 + D28 COSM5544862 c.657C>T p.S219S Substitution - coding silent 2:219284669-219284669 + T2991 COSM4678667 c.890G>A p.G297E Substitution - Missense 2:219284902-219284902 + CSCC-18-T COSM4455066 c.655A>G p.S219G Substitution - Missense 2:219284667-219284667 + 12-P4072 COSM4583213 c.548G>A p.R183K Substitution - Missense 2:219283235-219283235 + TCGA-21-1070-01 COSM719898 c.34C>G p.R12G Substitution - Missense 2:219279867-219279867 + I2L-P19Ta-Tumor-Organoid COSM5354204 c.820G>A p.A274T Substitution - Missense 2:219284832-219284832 + H322T COSM1194823 c.494G>A p.R165H Substitution - Missense 2:219283181-219283181 + 1N05-VS-1T05 COSM4972868 c.571C>T p.R191W Substitution - Missense 2:219283441-219283441 + S02355 COSM5695782 c.663C>T p.R221R Substitution - coding silent 2:219284675-219284675 + TCGA-BR-6452-01 COSM4091657 c.742G>A p.D248N Substitution - Missense 2:219284754-219284754 + CSCC-41-T COSM4560731 c.854G>A p.G285E Substitution - Missense 2:219284866-219284866 + TCGA-18-3409-01 COSM719897 c.429C>T p.S143S Substitution - coding silent 2:219282913-219282913 + TCGA-BR-4184-01 COSM4091651 c.73C>T p.R25C Substitution - Missense 2:219280585-219280585 + TCGA-D1-A17Q-01 COSM1016711 c.450C>A p.F150L Substitution - Missense 2:219283137-219283137 + ccRCC-76 COSM1661511 c.189G>C p.E63D Substitution - Missense 2:219281731-219281731 + I2L-P19Ta-Tumor-Biopsy COSM5354204 c.820G>A p.A274T Substitution - Missense 2:219284832-219284832 + RK177_C01 COSM1631854 c.934C>T p.P312S Substitution - Missense 2:219284946-219284946 + sysucc-783T COSM5484470 c.959G>A p.R320H Substitution - Missense 2:219284971-219284971 + CRC-7 COSM304864 c.562G>A p.G188R Substitution - Missense 2:219283432-219283432 + TCGA-A6-6781-01 COSM1405621 c.888delG p.T299fs*>26 Deletion - Frameshift 2:219284900-219284900 + LUAD-YINHD COSM350571 c.533G>A p.R178H Substitution - Missense 2:219283220-219283220 + 587284 COSM1204179 c.148G>A p.A50T Substitution - Missense 2:219280660-219280660 + SC_9008 COSM5564753 c.530G>A p.R177H Substitution - Missense 2:219283217-219283217 + T3202 COSM4678665 c.829C>T p.R277W Substitution - Missense 2:219284841-219284841 + PD13753a COSM5770513 c.677C>G p.S226* Substitution - Nonsense 2:219284689-219284689 + LS411 COSM350571 c.533G>A p.R178H Substitution - Missense 2:219283220-219283220 + D28 COSM5544860 c.658C>T p.R220C Substitution - Missense 2:219284670-219284670 + YUKLAB COSM1692030 c.388G>A p.G130S Substitution - Missense 2:219282872-219282872 + LUAD-B00416 COSM331301 c.503C>T p.S168F Substitution - Missense 2:219283190-219283190 + B45-Tumor COSM1752367 c.711G>A p.Q237Q Substitution - coding silent 2:219284723-219284723 + HCC86T COSM1614392 c.208C>G p.R70G Substitution - Missense 2:219281750-219281750 + 2521243 COSM5886142 c.443C>T p.S148F Substitution - Missense 2:219282927-219282927 + CSCC-60-T COSM4562118 c.912G>A p.R304R Substitution - coding silent 2:219284924-219284924 + SNUH_G16_S1 COSM3682543 c.230-10G>C p.? Unknown 2:219281929-219281929 + B45 COSM1752367 c.711G>A p.Q237Q Substitution - coding silent 2:219284723-219284723 + 587388 COSM1204180 c.856C>T p.R286W Substitution - Missense 2:219284868-219284868 + CHC892T COSM4961266 c.403G>A p.G135S Substitution - Missense 2:219282887-219282887 + TCGA-AD-6964-01 COSM3695277 c.200G>A p.R67H Substitution - Missense 2:219281742-219281742 + TCGA-E2-A15I-01 COSM442344 c.27C>T p.D9D Substitution - coding silent 2:219279860-219279860 + TCGA-EE-A29G-06 COSM3577948 c.309C>T p.F103F Substitution - coding silent 2:219282018-219282018 + TCGA-B5-A11I-01 COSM1016710 c.125C>T p.A42V Substitution - Missense 2:219280637-219280637 + 12-P2194 COSM4583215 c.787C>T p.L263L Substitution - coding silent 2:219284799-219284799 + YUKAT COSM5396271 c.215_216GG>AA p.G72E Substitution - Missense 2:219281757-219281758 + TCGA-BS-A0U7-01 COSM1016712 c.564G>A p.G188G Substitution - coding silent 2:219283434-219283434 + TCGA-BT-A20W-01 COSM418863 c.438G>A p.G146G Substitution - coding silent 2:219282922-219282922 + HCT15 COSM3044819 c.238C>A p.P80T Substitution - Missense 2:219281947-219281947 + HCC86 COSM1614392 c.208C>G p.R70G Substitution - Missense 2:219281750-219281750 + cSCCP1 COSM134056 c.407C>T p.P136L Substitution - Missense 2:219282891-219282891 + TCGA-A2-A0T5-01 COSM3838654 c.514A>C p.T172P Substitution - Missense 2:219283201-219283201 + TCGA-EJ-5519-01 COSM1129317 c.74G>A p.R25H Substitution - Missense 2:219280586-219280586 + TCGA-HU-A4H8-01 COSM4091653 c.385C>T p.R129W Substitution - Missense 2:219282869-219282869 + SNUH_G10_S1 COSM4001513 c.230-10G>A p.? Unknown 2:219281929-219281929 + TCGA-EE-A181-06 COSM3577952 c.392C>T p.S131F Substitution - Missense 2:219282876-219282876 + TCGA-F1-6874-01 COSM4091657 c.742G>A p.D248N Substitution - Missense 2:219284754-219284754 + TCGA-B0-5098-01 COSM1494823 c.955T>C p.S319P Substitution - Missense 2:219284967-219284967 + 6115118 COSM5557146 c.967A>C p.I323L Substitution - Missense 2:219284979-219284979 + ATL076 COSM5708083 c.208C>T p.R70W Substitution - Missense 2:219281750-219281750 + SNU-C4 COSM1405621 c.888delG p.T299fs*>26 Deletion - Frameshift 2:219284900-219284900 + 10748 COSM3727892 c.230-2A>G p.? Unknown 2:219281937-219281937 + LUAD-CHTN-3090346 COSM356933 c.461C>A p.S154Y Substitution - Missense 2:219283148-219283148 + HCT8 COSM3044819 c.238C>A p.P80T Substitution - Missense 2:219281947-219281947 + TCGA-BR-4361-01 COSM4091655 c.631G>A p.D211N Substitution - Missense 2:219284643-219284643 + TCGA-AP-A0LE-01 COSM1016708 c.67T>C p.Y23H Substitution - Missense 2:219280579-219280579 + ESCC_BICR_038T COSM5434548 c.935C>T p.P312L Substitution - Missense 2:219284947-219284947 + CSCC-27-T COSM4496488 c.476C>T p.P159L Substitution - Missense 2:219283163-219283163 + CHC892T COSM4961266 c.403G>A p.G135S Substitution - Missense 2:219282887-219282887 + TCGA-C5-A1BQ-01 COSM4841685 c.458C>A p.S153* Substitution - Nonsense 2:219283145-219283145 +

Mutation - CGAP UNIGENE CYTOBAND OMIM SNP Hs.77768 2q32-q34 604139

Mutation - IntOGen Mutated from(ref) Mutated to(alt) Consequence Type AA Mutation CDS Mutation Chr Pos Cancer A G Synonymous p.L8L c.24A>G 2 220144579 MM A T Synonymous p.R12R c.36A>T 2 220144591 HNSC C G Missense p.R12G c.34C>G 2 220144589 LUSC C T IntronicSNV . c.353-117C>T 2 220147442 CLL C T IntronicSNV . c.65+39C>T 2 220144659 CM C T Missense p.A42V c.125C>T 2 220145359 UCEC C T Missense p.R24W c.70C>T 2 220145304 UCEC C T Missense p.S131F c.392C>T 2 220147598 CM C T Nonsense p.R132* c.394C>T 2 220147600 LUAD C T Synonymous p.D9D c.27C>T 2 220144582 BRCA C T Synonymous p.F103F c.309C>T 2 220146740 CM G A Missense p.D248N c.742G>A 2 220149476 STAD G A Missense p.R178H c.533G>A 2 220147942 LUAD G A Missense p.R25H c.74G>A 2 220145308 PRAD G A Synonymous p.G146G c.438G>A 2 220147644 BLCA G C Missense p.R310P c.929G>C 2 220149663 LUAD G T Missense p.R70L c.209G>T 2 220146473 CM T C Missense p.Y23H c.67T>C 2 220145301 UCEC