Mutation - TCGA Type Chromosome Start Position End Position Strand Variant Classification Variant Type Reference Allele Tumor_seq Allele 1 Tumor_seq Allele 2 Tumor Sample Barcode Matched Norm Sample Barcode Genome Change cDNA Change Codon Change Protein Change BLCA 5 133536147 133536147 + Missense_Mutation SNP C C T TCGA-GV-A3JZ-01A-11D-A21A-08 TCGA-GV-A3JZ-10A-01D-A21A-08 g.chr5:133536147C>T c.617G>A c.(616-618)cGt>cAt p.R206H BLCA 5 133537632 133537632 + Silent SNP A A G TCGA-BT-A2LA-01A-11D-A18F-08 TCGA-BT-A2LA-11A-11D-A18F-08 g.chr5:133537632A>G c.393T>C c.(391-393)gaT>gaC p.D131D BLCA 5 133537700 133537700 + Missense_Mutation SNP C C T TCGA-K4-A6MB-01A-11D-A31L-08 TCGA-K4-A6MB-10A-01D-A31J-08 g.chr5:133537700C>T c.325G>A c.(325-327)Gaa>Aaa p.E109K BRCA 5 133533504 133533504 + Missense_Mutation SNP C C T TCGA-BH-A2L8-01A-11D-A18P-09 TCGA-BH-A2L8-10A-01D-A18P-09 g.chr5:133533504C>T c.889G>A c.(889-891)Gag>Aag p.E297K BRCA 5 133537565 133537565 + Missense_Mutation SNP G G A TCGA-A8-A08O-01A-21W-A071-09 TCGA-A8-A08O-10A-01W-A071-09 g.chr5:133537565G>A c.460C>T c.(460-462)Cct>Tct p.P154S BRCA 5 133541618 133541618 + Missense_Mutation SNP G G A TCGA-PE-A5DE-01A-11D-A27P-09 TCGA-PE-A5DE-10A-01D-A27P-09 g.chr5:133541618G>A c.307C>T c.(307-309)Ctt>Ttt p.L103F COAD 5 133536147 133536147 + Missense_Mutation SNP C C T TCGA-A6-6781-01A-22D-1924-10 TCGA-A6-6781-10A-01D-1924-10 g.chr5:133536147C>T c.617G>A c.(616-618)cGt>cAt p.R206H COAD 5 133536739 133536739 + Silent SNP C C T TCGA-F4-6856-01A-11D-1924-10 TCGA-F4-6856-10A-01D-1924-10 g.chr5:133536739C>T c.513G>A c.(511-513)tcG>tcA p.S171S COAD 5 133536763 133536763 + Silent SNP G G T TCGA-AA-A010-01A-01W-A00E-09 TCGA-AA-A010-10A-01W-A00E-09 g.chr5:133536763G>T c.489C>A c.(487-489)atC>atA p.I163I COAD 5 133537662 133537662 + Silent SNP T T C TCGA-CA-6718-01A-11D-1835-10 TCGA-CA-6718-10A-01D-1835-10 g.chr5:133537662T>C c.363A>G c.(361-363)agA>agG p.R121R COAD 5 133537662 133537662 + Silent SNP T T C TCGA-F4-6807-01A-11D-1835-10 TCGA-F4-6807-10A-01D-1835-10 g.chr5:133537662T>C c.363A>G c.(361-363)agA>agG p.R121R COAD 5 133537691 133537691 + Missense_Mutation SNP T T C TCGA-AA-3516-01A-02W-0833-10 TCGA-AA-3516-10A-01W-0833-10 g.chr5:133537691T>C c.334A>G c.(334-336)Acc>Gcc p.T112A COAD 5 133541780 133541780 + Nonsense_Mutation SNP G G A TCGA-G4-6588-01A-11D-1771-10 TCGA-G4-6588-10A-01D-1771-10 g.chr5:133541780G>A c.145C>T c.(145-147)Cga>Tga p.R49* COADREAD 5 133536147 133536147 + Missense_Mutation SNP C C T TCGA-A6-6781-01A-22D-1924-10 TCGA-A6-6781-10A-01D-1924-10 g.chr5:133536147C>T c.617G>A c.(616-618)cGt>cAt p.R206H COADREAD 5 133536739 133536739 + Silent SNP C C T TCGA-F4-6856-01A-11D-1924-10 TCGA-F4-6856-10A-01D-1924-10 g.chr5:133536739C>T c.513G>A c.(511-513)tcG>tcA p.S171S COADREAD 5 133536763 133536763 + Silent SNP G G T TCGA-AA-A010-01A-01W-A00E-09 TCGA-AA-A010-10A-01W-A00E-09 g.chr5:133536763G>T c.489C>A c.(487-489)atC>atA p.I163I COADREAD 5 133537662 133537662 + Silent SNP T T C TCGA-CA-6718-01A-11D-1835-10 TCGA-CA-6718-10A-01D-1835-10 g.chr5:133537662T>C c.363A>G c.(361-363)agA>agG p.R121R COADREAD 5 133537662 133537662 + Silent SNP T T C TCGA-F4-6807-01A-11D-1835-10 TCGA-F4-6807-10A-01D-1835-10 g.chr5:133537662T>C c.363A>G c.(361-363)agA>agG p.R121R COADREAD 5 133537691 133537691 + Missense_Mutation SNP T T C TCGA-AA-3516-01A-02W-0833-10 TCGA-AA-3516-10A-01W-0833-10 g.chr5:133537691T>C c.334A>G c.(334-336)Acc>Gcc p.T112A COADREAD 5 133541780 133541780 + Nonsense_Mutation SNP G G A TCGA-G4-6588-01A-11D-1771-10 TCGA-G4-6588-10A-01D-1771-10 g.chr5:133541780G>A c.145C>T c.(145-147)Cga>Tga p.R49* DLBC 5 133561476 133561476 + Missense_Mutation SNP G G A TCGA-RQ-A6JB-01A-11D-A31X-10 TCGA-RQ-A6JB-10A-01D-A31X-10 g.chr5:133561476G>A c.77C>T c.(76-78)tCc>tTc p.S26F ESCA 5 133537546 133537546 + Missense_Mutation SNP T T C TCGA-LN-A4A1-01A-21D-A27G-09 TCGA-LN-A4A1-10A-01D-A27G-09 g.chr5:133537546T>C c.479A>G c.(478-480)gAt>gGt p.D160G GBMLGG 5 133534841 133534841 + Missense_Mutation SNP A A T TCGA-FG-7637-01A-11D-2086-08 TCGA-FG-7637-10A-01D-2086-08 g.chr5:133534841A>T c.793T>A c.(793-795)Tat>Aat p.Y265N GBMLGG 5 133534873 133534873 + Missense_Mutation SNP C C T TCGA-DU-6392-01A-11D-1705-08 TCGA-DU-6392-10A-01D-1705-08 g.chr5:133534873C>T c.761G>A c.(760-762)cGg>cAg p.R254Q GBMLGG 5 133536734 133536734 + Missense_Mutation SNP G G T TCGA-DU-6392-01A-11D-1705-08 TCGA-DU-6392-10A-01D-1705-08 g.chr5:133536734G>T c.518C>A c.(517-519)tCt>tAt p.S173Y GBMLGG 5 133541666 133541666 + Missense_Mutation SNP C C T TCGA-DU-6392-01A-11D-1705-08 TCGA-DU-6392-10A-01D-1705-08 g.chr5:133541666C>T c.259G>A c.(259-261)Gtt>Att p.V87I KIPAN 5 133533531 133533531 + Nonsense_Mutation SNP G G A TCGA-AK-3454-01A-02D-1361-10 TCGA-AK-3454-10A-01D-1361-10 g.chr5:133533531G>A c.862C>T c.(862-864)Cag>Tag p.Q288* KIRC 5 133533531 133533531 + Nonsense_Mutation SNP G G A TCGA-AK-3454-01A-02D-1361-10 TCGA-AK-3454-10A-01D-1361-10 g.chr5:133533531G>A c.862C>T c.(862-864)Cag>Tag p.Q288* LGG 5 133534841 133534841 + Missense_Mutation SNP A A T TCGA-FG-7637-01A-11D-2086-08 TCGA-FG-7637-10A-01D-2086-08 g.chr5:133534841A>T c.793T>A c.(793-795)Tat>Aat p.Y265N LGG 5 133534873 133534873 + Missense_Mutation SNP C C T TCGA-DU-6392-01A-11D-1705-08 TCGA-DU-6392-10A-01D-1705-08 g.chr5:133534873C>T c.761G>A c.(760-762)cGg>cAg p.R254Q LGG 5 133536734 133536734 + Missense_Mutation SNP G G T TCGA-DU-6392-01A-11D-1705-08 TCGA-DU-6392-10A-01D-1705-08 g.chr5:133536734G>T c.518C>A c.(517-519)tCt>tAt p.S173Y LGG 5 133541666 133541666 + Missense_Mutation SNP C C T TCGA-DU-6392-01A-11D-1705-08 TCGA-DU-6392-10A-01D-1705-08 g.chr5:133541666C>T c.259G>A c.(259-261)Gtt>Att p.V87I LIHC 5 133534792 133534792 + Missense_Mutation SNP G G T TCGA-DD-AACL-01A-11D-A40R-10 TCGA-DD-AACL-10A-01D-A40U-10 g.chr5:133534792G>T c.842C>A c.(841-843)aCt>aAt p.T281N LIHC 5 133541801 133541801 + Missense_Mutation SNP C C G TCGA-2Y-A9H1-01A-11D-A382-10 TCGA-2Y-A9H1-10A-01D-A385-10 g.chr5:133541801C>G c.124G>C c.(124-126)Gaa>Caa p.E42Q LUAD 5 133536187 133536187 + Splice_Site SNP C C A TCGA-17-Z056-01A-01W-0747-08 TCGA-17-Z056-11A-01W-0747-08 g.chr5:133536187C>A c.577G>T c.(577-579)Ggt>Tgt p.G193C LUAD 5 133541766 133541766 + Silent SNP A A G TCGA-55-1595-01A-01D-0969-08 TCGA-55-1595-11A-01D-0969-08 g.chr5:133541766A>G c.159T>C c.(157-159)acT>acC p.T53T LUSC 5 133534875 133534875 + Silent SNP G G A TCGA-33-6737-01A-11D-1817-08 TCGA-33-6737-11A-01D-1817-08 g.chr5:133534875G>A c.759C>T c.(757-759)gaC>gaT p.D253D OV 5 133537663 133537663 + Missense_Mutation SNP C C G TCGA-04-1349-01A-01W-0494-09 TCGA-04-1349-11A-01W-0494-09 g.chr5:133537663C>G c.362G>C c.(361-363)aGa>aCa p.R121T OV 5 133541780 133541780 + Nonsense_Mutation SNP G G A TCGA-24-2271-01A-01W-0799-08 TCGA-24-2271-10A-01W-0799-08 g.chr5:133541780G>A c.145C>T c.(145-147)Cga>Tga p.R49* PAAD 5 133541798 133541798 + Missense_Mutation SNP A A G TCGA-IB-A6UF-01A-23D-A33T-08 TCGA-IB-A6UF-10A-01D-A33W-08 g.chr5:133541798A>G c.127T>C c.(127-129)Tcc>Ccc p.S43P PRAD 5 133536761 133536761 + Frame_Shift_Del DEL A A - TCGA-KK-A7AZ-01A-12D-A32B-08 TCGA-KK-A7AZ-11A-11D-A329-08 g.chr5:133536761delA c.491delT c.(490-492)ttcfs p.F164fs PRAD 5 133541656 133541656 + Missense_Mutation SNP C C T TCGA-4L-AA1F-01A-11D-A41K-08 TCGA-4L-AA1F-10A-01D-A41N-08 g.chr5:133541656C>T c.269G>A c.(268-270)gGa>gAa p.G90E SKCM 5 133536105 133536105 + Missense_Mutation SNP A A G TCGA-GN-A267-06A-21D-A196-08 TCGA-GN-A267-10A-01D-A198-08 g.chr5:133536105A>G c.659T>C c.(658-660)tTt>tCt p.F220S SKCM 5 133541810 133541810 + Silent SNP G G A TCGA-EE-A2MU-06A-21D-A196-08 TCGA-EE-A2MU-10A-01D-A198-08 g.chr5:133541810G>A c.115C>T c.(115-117)Ctg>Ttg p.L39L

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 5 133536147 133536147 single base substitution C T downstream_gene_variant BLCA-US 5 133536147 133536147 single base substitution C T missense_variant R206H 617G>A BLCA-US 5 133536147 133536147 single base substitution C T upstream_gene_variant BRCA-EU 5 133525268 133525268 single base substitution C T downstream_gene_variant BRCA-EU 5 133525293 133525293 single base substitution C G downstream_gene_variant BRCA-EU 5 133525845 133525845 single base substitution G A downstream_gene_variant BRCA-EU 5 133527392 133527392 single base substitution T A downstream_gene_variant BRCA-EU 5 133528864 133528864 single base substitution G A downstream_gene_variant BRCA-EU 5 133529004 133529004 single base substitution T A downstream_gene_variant BRCA-EU 5 133536160 133536160 single base substitution C G downstream_gene_variant BRCA-EU 5 133536160 133536160 single base substitution C G missense_variant D202H 604G>C BRCA-EU 5 133536160 133536160 single base substitution C G upstream_gene_variant BRCA-EU 5 133536555 133536555 single base substitution T C downstream_gene_variant BRCA-EU 5 133536555 133536555 single base substitution T C intron_variant BRCA-EU 5 133536555 133536555 single base substitution T C upstream_gene_variant BRCA-EU 5 133536647 133536647 single base substitution G C downstream_gene_variant BRCA-EU 5 133536647 133536647 single base substitution G C intron_variant BRCA-EU 5 133536647 133536647 single base substitution G C upstream_gene_variant BRCA-EU 5 133537615 133537615 single base substitution T G downstream_gene_variant BRCA-EU 5 133537615 133537615 single base substitution T G exon_variant BRCA-EU 5 133537615 133537615 single base substitution T G missense_variant Y124S 371A>C BRCA-EU 5 133537615 133537615 single base substitution T G missense_variant Y137S 410A>C BRCA-EU 5 133537615 133537615 single base substitution T G missense_variant Y72S 215A>C BRCA-EU 5 133537615 133537615 single base substitution T G upstream_gene_variant BRCA-EU 5 133538916 133538916 single base substitution T C downstream_gene_variant BRCA-EU 5 133538916 133538916 single base substitution T C intron_variant BRCA-EU 5 133538916 133538916 single base substitution T C upstream_gene_variant BRCA-EU 5 133539002 133539002 single base substitution G T downstream_gene_variant BRCA-EU 5 133539002 133539002 single base substitution G T intron_variant BRCA-EU 5 133539002 133539002 single base substitution G T upstream_gene_variant BRCA-EU 5 133539047 133539075 deletion of <=200bp CCCGGTATTCTTTTGCTAAGGCTGCCACA - downstream_gene_variant BRCA-EU 5 133539047 133539075 deletion of <=200bp CCCGGTATTCTTTTGCTAAGGCTGCCACA - intron_variant BRCA-EU 5 133539047 133539075 deletion of <=200bp CCCGGTATTCTTTTGCTAAGGCTGCCACA - upstream_gene_variant BRCA-EU 5 133539426 133539426 single base substitution C T intron_variant BRCA-EU 5 133539426 133539426 single base substitution C T upstream_gene_variant BRCA-EU 5 133539894 133539894 deletion of <=200bp T - intron_variant BRCA-EU 5 133539894 133539894 deletion of <=200bp T - upstream_gene_variant BRCA-EU 5 133540202 133540202 single base substitution G C intron_variant BRCA-EU 5 133540202 133540202 single base substitution G C upstream_gene_variant BRCA-EU 5 133542103 133542103 single base substitution C A intron_variant BRCA-EU 5 133542103 133542103 single base substitution C A upstream_gene_variant BRCA-EU 5 133543816 133543816 single base substitution A G intron_variant BRCA-EU 5 133544145 133544145 single base substitution G A intron_variant BRCA-EU 5 133544716 133544716 single base substitution A T intron_variant BRCA-EU 5 133544974 133544974 single base substitution A G intron_variant BRCA-EU 5 133546515 133546515 insertion of <=200bp - A intron_variant BRCA-EU 5 133547553 133547553 single base substitution A T intron_variant BRCA-EU 5 133547627 133547627 single base substitution G A intron_variant BRCA-EU 5 133550710 133550710 single base substitution T C intron_variant BRCA-EU 5 133550755 133550755 single base substitution C A intron_variant BRCA-EU 5 133553934 133553938 multiple base substitution (>=2bp and <=200bp) CTAGT CTA intron_variant BRCA-EU 5 133553954 133553954 single base substitution C T intron_variant BRCA-EU 5 133560894 133560894 single base substitution C T intron_variant BRCA-EU 5 133560894 133560894 single base substitution C T upstream_gene_variant BRCA-EU 5 133561711 133561711 single base substitution C T 5_prime_UTR_variant BRCA-EU 5 133561711 133561711 single base substitution C T exon_variant BRCA-EU 5 133561711 133561711 single base substitution C T upstream_gene_variant BRCA-EU 5 133562522 133562522 single base substitution T G upstream_gene_variant BRCA-EU 5 133565888 133565888 single base substitution T C upstream_gene_variant BRCA-EU 5 133565990 133565990 single base substitution G T upstream_gene_variant BRCA-EU 5 133566045 133566045 single base substitution G C upstream_gene_variant BRCA-EU 5 133566333 133566333 single base substitution C T upstream_gene_variant BRCA-FR 5 133560894 133560894 single base substitution C T intron_variant BRCA-FR 5 133560894 133560894 single base substitution C T upstream_gene_variant BRCA-UK 5 133528308 133528308 single base substitution G C downstream_gene_variant BRCA-US 5 133533504 133533504 single base substitution C T downstream_gene_variant BRCA-US 5 133533504 133533504 single base substitution C T exon_variant BRCA-US 5 133533504 133533504 single base substitution C T missense_variant E297K 889G>A BRCA-US 5 133537565 133537565 single base substitution G A downstream_gene_variant BRCA-US 5 133537565 133537565 single base substitution G A exon_variant BRCA-US 5 133537565 133537565 single base substitution G A missense_variant P141S 421C>T BRCA-US 5 133537565 133537565 single base substitution G A missense_variant P154S 460C>T BRCA-US 5 133537565 133537565 single base substitution G A missense_variant P89S 265C>T BRCA-US 5 133537565 133537565 single base substitution G A upstream_gene_variant BTCA-JP 5 133541793 133541793 single base substitution G A 5_prime_UTR_premature_start_codon_gain_variant BTCA-JP 5 133541793 133541793 single base substitution G A exon_variant BTCA-JP 5 133541793 133541793 single base substitution G A synonymous_variant N31N 93C>T BTCA-JP 5 133541793 133541793 single base substitution G A synonymous_variant N44N 132C>T BTCA-JP 5 133541793 133541793 single base substitution G A upstream_gene_variant CLLE-ES 5 133526552 133526552 single base substitution C G downstream_gene_variant CLLE-ES 5 133527907 133527907 single base substitution T C downstream_gene_variant CLLE-ES 5 133533958 133533958 single base substitution C T downstream_gene_variant CLLE-ES 5 133533958 133533958 single base substitution C T intron_variant CLLE-ES 5 133535806 133535806 single base substitution G T downstream_gene_variant CLLE-ES 5 133535806 133535806 single base substitution G T intron_variant CLLE-ES 5 133535806 133535806 single base substitution G T upstream_gene_variant CLLE-ES 5 133547115 133547115 single base substitution C A intron_variant COAD-US 5 133536739 133536739 single base substitution C T downstream_gene_variant COAD-US 5 133536739 133536739 single base substitution C T exon_variant COAD-US 5 133536739 133536739 single base substitution C T synonymous_variant S106S 318G>A COAD-US 5 133536739 133536739 single base substitution C T synonymous_variant S171S 513G>A COAD-US 5 133536739 133536739 single base substitution C T upstream_gene_variant COCA-CN 5 133536087 133536087 single base substitution T G downstream_gene_variant COCA-CN 5 133536087 133536087 single base substitution T G missense_variant E226A 677A>C COCA-CN 5 133536087 133536087 single base substitution T G upstream_gene_variant COCA-CN 5 133536680 133536680 single base substitution T C downstream_gene_variant COCA-CN 5 133536680 133536680 single base substitution T C exon_variant COCA-CN 5 133536680 133536680 single base substitution T C missense_variant H126R 377A>G COCA-CN 5 133536680 133536680 single base substitution T C missense_variant H191R 572A>G COCA-CN 5 133536680 133536680 single base substitution T C upstream_gene_variant COCA-CN 5 133541548 133541548 single base substitution A G intron_variant COCA-CN 5 133541548 133541548 single base substitution A G upstream_gene_variant COCA-CN 5 133560076 133560076 single base substitution T C 5_prime_UTR_variant COCA-CN 5 133560076 133560076 single base substitution T C intron_variant ESAD-UK 5 133525842 133525842 single base substitution C T downstream_gene_variant ESAD-UK 5 133526896 133526896 single base substitution C G downstream_gene_variant ESAD-UK 5 133536837 133536837 single base substitution T A downstream_gene_variant ESAD-UK 5 133536837 133536837 single base substitution T A intron_variant ESAD-UK 5 133536837 133536837 single base substitution T A upstream_gene_variant ESAD-UK 5 133536838 133536838 single base substitution C A downstream_gene_variant ESAD-UK 5 133536838 133536838 single base substitution C A intron_variant ESAD-UK 5 133536838 133536838 single base substitution C A upstream_gene_variant ESAD-UK 5 133540713 133540713 single base substitution C T intron_variant ESAD-UK 5 133540713 133540713 single base substitution C T upstream_gene_variant ESAD-UK 5 133544973 133544973 single base substitution A G intron_variant ESAD-UK 5 133544974 133544974 single base substitution A G intron_variant ESAD-UK 5 133547737 133547757 deletion of <=200bp GGAGGCGAGGTTGCAGTGAGC - intron_variant ESAD-UK 5 133548797 133548797 single base substitution G A intron_variant ESAD-UK 5 133549149 133549149 single base substitution T A intron_variant ESAD-UK 5 133552007 133552007 single base substitution C T intron_variant ESAD-UK 5 133555951 133555951 single base substitution A C intron_variant ESAD-UK 5 133556341 133556341 single base substitution C G intron_variant ESAD-UK 5 133558225 133558227 deletion of <=200bp CTT - intron_variant ESAD-UK 5 133561787 133561787 single base substitution G T 5_prime_UTR_variant ESAD-UK 5 133561787 133561787 single base substitution G T upstream_gene_variant ESAD-UK 5 133562304 133562304 single base substitution G A upstream_gene_variant ESAD-UK 5 133562436 133562436 single base substitution C G upstream_gene_variant ESAD-UK 5 133564879 133564879 single base substitution T G upstream_gene_variant ESAD-UK 5 133565662 133565662 single base substitution G A upstream_gene_variant ESAD-UK 5 133565827 133565827 single base substitution G C upstream_gene_variant ESAD-UK 5 133566364 133566364 single base substitution T A upstream_gene_variant ESAD-UK 5 133566534 133566534 single base substitution G C upstream_gene_variant ESCA-CN 5 133536090 133536090 single base substitution G A downstream_gene_variant ESCA-CN 5 133536090 133536090 single base substitution G A missense_variant S225F 674C>T ESCA-CN 5 133536090 133536090 single base substitution G A upstream_gene_variant ESCA-CN 5 133561589 133561589 single base substitution G C 5_prime_UTR_variant ESCA-CN 5 133561589 133561589 single base substitution G C exon_variant ESCA-CN 5 133561589 133561589 single base substitution G C upstream_gene_variant KIRC-US 5 133533531 133533531 single base substitution G A downstream_gene_variant KIRC-US 5 133533531 133533531 single base substitution G A exon_variant KIRC-US 5 133533531 133533531 single base substitution G A stop_gained Q288* 862C>T LAML-KR 5 133552248 133552248 single base substitution A G intron_variant LGG-US 5 133534841 133534841 single base substitution A T downstream_gene_variant LGG-US 5 133534841 133534841 single base substitution A T exon_variant LGG-US 5 133534841 133534841 single base substitution A T missense_variant Y265N 793T>A LIAD-FR 5 133533469 133533469 single base substitution G T downstream_gene_variant LIAD-FR 5 133533469 133533469 single base substitution G T exon_variant LIAD-FR 5 133533469 133533469 single base substitution G T missense_variant F308L 924C>A LICA-FR 5 133526117 133526117 insertion of <=200bp - TT downstream_gene_variant LICA-FR 5 133537579 133537579 single base substitution A G downstream_gene_variant LICA-FR 5 133537579 133537579 single base substitution A G exon_variant LICA-FR 5 133537579 133537579 single base substitution A G missense_variant L136P 407T>C LICA-FR 5 133537579 133537579 single base substitution A G missense_variant L149P 446T>C LICA-FR 5 133537579 133537579 single base substitution A G missense_variant L84P 251T>C LICA-FR 5 133537579 133537579 single base substitution A G upstream_gene_variant LICA-FR 5 133551119 133551119 single base substitution T A intron_variant LICA-FR 5 133556494 133556494 single base substitution G C intron_variant LICA-FR 5 133557659 133557659 deletion of <=200bp A - intron_variant LICA-FR 5 133559058 133559058 single base substitution T C intron_variant LIHC-US 5 133536762 133536762 single base substitution A G downstream_gene_variant LIHC-US 5 133536762 133536762 single base substitution A G exon_variant LIHC-US 5 133536762 133536762 single base substitution A G missense_variant F164L 490T>C LIHC-US 5 133536762 133536762 single base substitution A G missense_variant F99L 295T>C LIHC-US 5 133536762 133536762 single base substitution A G upstream_gene_variant LINC-JP 5 133526131 133526131 single base substitution A T downstream_gene_variant LINC-JP 5 133531834 133531834 single base substitution C A 3_prime_UTR_variant LINC-JP 5 133531834 133531834 single base substitution C A downstream_gene_variant LINC-JP 5 133536100 133536100 single base substitution G C downstream_gene_variant LINC-JP 5 133536100 133536100 single base substitution G C missense_variant Q222E 664C>G LINC-JP 5 133536100 133536100 single base substitution G C upstream_gene_variant LINC-JP 5 133556170 133556170 single base substitution G A intron_variant LINC-JP 5 133556181 133556181 single base substitution C A intron_variant LINC-JP 5 133556868 133556868 single base substitution T A intron_variant LINC-JP 5 133558233 133558233 deletion of <=200bp A - intron_variant LINC-JP 5 133559038 133559038 single base substitution G A intron_variant LIRI-JP 5 133526323 133526323 insertion of <=200bp - A downstream_gene_variant LIRI-JP 5 133527435 133527435 single base substitution T C downstream_gene_variant LIRI-JP 5 133529798 133529798 single base substitution T C downstream_gene_variant LIRI-JP 5 133530827 133530827 single base substitution T C 3_prime_UTR_variant LIRI-JP 5 133530827 133530827 single base substitution T C downstream_gene_variant LIRI-JP 5 133531567 133531567 single base substitution T C 3_prime_UTR_variant LIRI-JP 5 133531567 133531567 single base substitution T C downstream_gene_variant LIRI-JP 5 133532284 133532284 single base substitution A G 3_prime_UTR_variant LIRI-JP 5 133532284 133532284 single base substitution A G downstream_gene_variant LIRI-JP 5 133533839 133533839 single base substitution T A downstream_gene_variant LIRI-JP 5 133533839 133533839 single base substitution T A intron_variant LIRI-JP 5 133535404 133535404 single base substitution C A downstream_gene_variant LIRI-JP 5 133535404 133535404 single base substitution C A intron_variant LIRI-JP 5 133535404 133535404 single base substitution C A upstream_gene_variant LIRI-JP 5 133535769 133535769 single base substitution T G downstream_gene_variant LIRI-JP 5 133535769 133535769 single base substitution T G intron_variant LIRI-JP 5 133535769 133535769 single base substitution T G upstream_gene_variant LIRI-JP 5 133536372 133536372 single base substitution A C downstream_gene_variant LIRI-JP 5 133536372 133536372 single base substitution A C intron_variant LIRI-JP 5 133536372 133536372 single base substitution A C upstream_gene_variant LIRI-JP 5 133536445 133536445 single base substitution C T downstream_gene_variant LIRI-JP 5 133536445 133536445 single base substitution C T intron_variant LIRI-JP 5 133536445 133536445 single base substitution C T upstream_gene_variant LIRI-JP 5 133536559 133536559 single base substitution C G downstream_gene_variant LIRI-JP 5 133536559 133536559 single base substitution C G intron_variant LIRI-JP 5 133536559 133536559 single base substitution C G upstream_gene_variant LIRI-JP 5 133536729 133536729 single base substitution C G downstream_gene_variant LIRI-JP 5 133536729 133536729 single base substitution C G exon_variant LIRI-JP 5 133536729 133536729 single base substitution C G missense_variant D110H 328G>C LIRI-JP 5 133536729 133536729 single base substitution C G missense_variant D175H 523G>C LIRI-JP 5 133536729 133536729 single base substitution C G upstream_gene_variant LIRI-JP 5 133537015 133537015 single base substitution G A downstream_gene_variant LIRI-JP 5 133537015 133537015 single base substitution G A intron_variant LIRI-JP 5 133537015 133537015 single base substitution G A upstream_gene_variant LIRI-JP 5 133537694 133537694 single base substitution T A downstream_gene_variant LIRI-JP 5 133537694 133537694 single base substitution T A exon_variant LIRI-JP 5 133537694 133537694 single base substitution T A missense_variant I111F 331A>T LIRI-JP 5 133537694 133537694 single base substitution T A missense_variant I46F 136A>T LIRI-JP 5 133537694 133537694 single base substitution T A missense_variant I98F 292A>T LIRI-JP 5 133537694 133537694 single base substitution T A upstream_gene_variant LIRI-JP 5 133537843 133537843 single base substitution T C downstream_gene_variant LIRI-JP 5 133537843 133537843 single base substitution T C exon_variant LIRI-JP 5 133537843 133537843 single base substitution T C intron_variant LIRI-JP 5 133537843 133537843 single base substitution T C upstream_gene_variant LIRI-JP 5 133537949 133537950 deletion of <=200bp AT - downstream_gene_variant LIRI-JP 5 133537949 133537950 deletion of <=200bp AT - exon_variant LIRI-JP 5 133537949 133537950 deletion of <=200bp AT - intron_variant LIRI-JP 5 133537949 133537950 deletion of <=200bp AT - upstream_gene_variant LIRI-JP 5 133538629 133538629 single base substitution T G downstream_gene_variant LIRI-JP 5 133538629 133538629 single base substitution T G intron_variant LIRI-JP 5 133538629 133538629 single base substitution T G upstream_gene_variant LIRI-JP 5 133539938 133539938 single base substitution C A intron_variant LIRI-JP 5 133539938 133539938 single base substitution C A upstream_gene_variant LIRI-JP 5 133540963 133540963 single base substitution T C intron_variant LIRI-JP 5 133540963 133540963 single base substitution T C upstream_gene_variant LIRI-JP 5 133541222 133541222 single base substitution G A intron_variant LIRI-JP 5 133541222 133541222 single base substitution G A upstream_gene_variant LIRI-JP 5 133542591 133542591 single base substitution G A intron_variant LIRI-JP 5 133542591 133542591 single base substitution G A upstream_gene_variant LIRI-JP 5 133543408 133543408 single base substitution T C intron_variant LIRI-JP 5 133544533 133544533 single base substitution A C intron_variant LIRI-JP 5 133545270 133545270 single base substitution A T intron_variant LIRI-JP 5 133546060 133546060 single base substitution T C intron_variant LIRI-JP 5 133546847 133546847 single base substitution T C intron_variant LIRI-JP 5 133546857 133546857 single base substitution C G intron_variant LIRI-JP 5 133547501 133547501 single base substitution A T intron_variant LIRI-JP 5 133547902 133547902 single base substitution T A intron_variant LIRI-JP 5 133550903 133550903 single base substitution C T intron_variant LIRI-JP 5 133552344 133552344 single base substitution T C intron_variant LIRI-JP 5 133553786 133553786 single base substitution T A intron_variant LIRI-JP 5 133555061 133555061 single base substitution A T intron_variant LIRI-JP 5 133556281 133556281 single base substitution G T intron_variant LIRI-JP 5 133556364 133556364 insertion of <=200bp - C intron_variant LIRI-JP 5 133557139 133557139 single base substitution T C intron_variant LIRI-JP 5 133557162 133557162 single base substitution T A intron_variant LIRI-JP 5 133557221 133557221 single base substitution T C intron_variant LIRI-JP 5 133558448 133558448 single base substitution T G intron_variant LIRI-JP 5 133558857 133558857 single base substitution T C intron_variant LIRI-JP 5 133562477 133562477 single base substitution G A upstream_gene_variant LIRI-JP 5 133562512 133562512 single base substitution G A upstream_gene_variant LIRI-JP 5 133562828 133562828 single base substitution C T upstream_gene_variant LIRI-JP 5 133563122 133563122 single base substitution T C upstream_gene_variant LIRI-JP 5 133564957 133564957 single base substitution G T upstream_gene_variant LIRI-JP 5 133565900 133565900 single base substitution A C upstream_gene_variant LIRI-JP 5 133566353 133566353 single base substitution T C upstream_gene_variant LUSC-KR 5 133526884 133526884 single base substitution T C downstream_gene_variant LUSC-KR 5 133533555 133533555 single base substitution C G downstream_gene_variant LUSC-KR 5 133533555 133533555 single base substitution C G intron_variant LUSC-KR 5 133539109 133539109 single base substitution A C downstream_gene_variant LUSC-KR 5 133539109 133539109 single base substitution A C intron_variant LUSC-KR 5 133539109 133539109 single base substitution A C upstream_gene_variant LUSC-KR 5 133543567 133543567 single base substitution C T intron_variant LUSC-KR 5 133546876 133546876 single base substitution A T intron_variant LUSC-KR 5 133549021 133549021 single base substitution G C intron_variant LUSC-KR 5 133549769 133549769 single base substitution G A intron_variant LUSC-KR 5 133552248 133552248 single base substitution A G intron_variant LUSC-KR 5 133552575 133552575 single base substitution C G intron_variant LUSC-KR 5 133555910 133555910 single base substitution G A intron_variant LUSC-KR 5 133556084 133556084 single base substitution A G intron_variant LUSC-KR 5 133557290 133557290 single base substitution T C intron_variant LUSC-KR 5 133559292 133559292 single base substitution G C intron_variant LUSC-US 5 133534875 133534875 single base substitution G A downstream_gene_variant LUSC-US 5 133534875 133534875 single base substitution G A exon_variant LUSC-US 5 133534875 133534875 single base substitution G A synonymous_variant D253D 759C>T MALY-DE 5 133536368 133536368 single base substitution C T downstream_gene_variant MALY-DE 5 133536368 133536368 single base substitution C T intron_variant MALY-DE 5 133536368 133536368 single base substitution C T upstream_gene_variant MALY-DE 5 133538024 133538024 single base substitution A T downstream_gene_variant MALY-DE 5 133538024 133538024 single base substitution A T exon_variant MALY-DE 5 133538024 133538024 single base substitution A T intron_variant MALY-DE 5 133538024 133538024 single base substitution A T upstream_gene_variant MALY-DE 5 133538065 133538065 single base substitution A G downstream_gene_variant MALY-DE 5 133538065 133538065 single base substitution A G exon_variant MALY-DE 5 133538065 133538065 single base substitution A G intron_variant MALY-DE 5 133538065 133538065 single base substitution A G upstream_gene_variant MALY-DE 5 133540391 133540391 single base substitution C T intron_variant MALY-DE 5 133540391 133540391 single base substitution C T upstream_gene_variant MALY-DE 5 133541527 133541527 single base substitution G T intron_variant MALY-DE 5 133541527 133541527 single base substitution G T upstream_gene_variant MALY-DE 5 133553597 133553597 single base substitution T C intron_variant MALY-DE 5 133556247 133556247 single base substitution A C intron_variant MALY-DE 5 133559047 133559047 single base substitution A G intron_variant MALY-DE 5 133566818 133566818 single base substitution G T upstream_gene_variant MELA-AU 5 133525349 133525349 single base substitution G A downstream_gene_variant MELA-AU 5 133527268 133527268 single base substitution C T downstream_gene_variant MELA-AU 5 133527827 133527827 single base substitution G A downstream_gene_variant MELA-AU 5 133528155 133528155 single base substitution G A downstream_gene_variant MELA-AU 5 133528620 133528620 single base substitution G A downstream_gene_variant MELA-AU 5 133529395 133529395 single base substitution G A downstream_gene_variant MELA-AU 5 133530312 133530312 insertion of <=200bp - T 3_prime_UTR_variant MELA-AU 5 133530312 133530312 insertion of <=200bp - T downstream_gene_variant MELA-AU 5 133531459 133531459 single base substitution C T 3_prime_UTR_variant MELA-AU 5 133531459 133531459 single base substitution C T downstream_gene_variant MELA-AU 5 133531985 133531985 single base substitution C T 3_prime_UTR_variant MELA-AU 5 133531985 133531985 single base substitution C T downstream_gene_variant MELA-AU 5 133532481 133532481 single base substitution T C 3_prime_UTR_variant MELA-AU 5 133532481 133532481 single base substitution T C downstream_gene_variant MELA-AU 5 133533376 133533376 single base substitution C T 3_prime_UTR_variant MELA-AU 5 133533376 133533376 single base substitution C T downstream_gene_variant MELA-AU 5 133533376 133533376 single base substitution C T exon_variant MELA-AU 5 133533858 133533858 single base substitution G A downstream_gene_variant MELA-AU 5 133533858 133533858 single base substitution G A intron_variant MELA-AU 5 133534448 133534448 single base substitution G A downstream_gene_variant MELA-AU 5 133534448 133534448 single base substitution G A intron_variant MELA-AU 5 133536717 133536717 single base substitution G A downstream_gene_variant MELA-AU 5 133536717 133536717 single base substitution G A exon_variant MELA-AU 5 133536717 133536717 single base substitution G A missense_variant H114Y 340C>T MELA-AU 5 133536717 133536717 single base substitution G A missense_variant H179Y 535C>T MELA-AU 5 133536717 133536717 single base substitution G A upstream_gene_variant MELA-AU 5 133537852 133537852 single base substitution A G downstream_gene_variant MELA-AU 5 133537852 133537852 single base substitution A G exon_variant MELA-AU 5 133537852 133537852 single base substitution A G intron_variant MELA-AU 5 133537852 133537852 single base substitution A G upstream_gene_variant MELA-AU 5 133538991 133538991 single base substitution T A downstream_gene_variant MELA-AU 5 133538991 133538991 single base substitution T A intron_variant MELA-AU 5 133538991 133538991 single base substitution T A upstream_gene_variant MELA-AU 5 133539374 133539374 single base substitution G A intron_variant MELA-AU 5 133539374 133539374 single base substitution G A upstream_gene_variant MELA-AU 5 133539948 133539948 single base substitution A T intron_variant MELA-AU 5 133539948 133539948 single base substitution A T upstream_gene_variant MELA-AU 5 133540085 133540085 single base substitution G A intron_variant MELA-AU 5 133540085 133540085 single base substitution G A upstream_gene_variant MELA-AU 5 133540934 133540934 single base substitution A G intron_variant MELA-AU 5 133540934 133540934 single base substitution A G upstream_gene_variant MELA-AU 5 133541289 133541289 single base substitution G A intron_variant MELA-AU 5 133541289 133541289 single base substitution G A upstream_gene_variant MELA-AU 5 133541321 133541321 single base substitution A G intron_variant MELA-AU 5 133541321 133541321 single base substitution A G upstream_gene_variant MELA-AU 5 133542013 133542013 single base substitution G A intron_variant MELA-AU 5 133542013 133542013 single base substitution G A upstream_gene_variant MELA-AU 5 133543348 133543348 single base substitution G A intron_variant MELA-AU 5 133544483 133544483 single base substitution C T intron_variant MELA-AU 5 133544714 133544714 single base substitution A G intron_variant MELA-AU 5 133546982 133546982 single base substitution G A intron_variant MELA-AU 5 133547143 133547143 single base substitution C T intron_variant MELA-AU 5 133547809 133547809 single base substitution A C intron_variant MELA-AU 5 133548363 133548363 single base substitution A T intron_variant MELA-AU 5 133548540 133548540 single base substitution T C intron_variant MELA-AU 5 133549173 133549173 single base substitution T C intron_variant MELA-AU 5 133549746 133549746 single base substitution G A intron_variant MELA-AU 5 133549923 133549923 single base substitution A C intron_variant MELA-AU 5 133552003 133552003 single base substitution G A intron_variant MELA-AU 5 133552282 133552282 single base substitution G A intron_variant MELA-AU 5 133552764 133552764 single base substitution G A intron_variant MELA-AU 5 133553110 133553110 single base substitution G A intron_variant MELA-AU 5 133553731 133553731 single base substitution G A intron_variant MELA-AU 5 133554027 133554027 single base substitution T C intron_variant MELA-AU 5 133554663 133554663 single base substitution C T intron_variant MELA-AU 5 133556549 133556549 single base substitution A C intron_variant MELA-AU 5 133556792 133556792 single base substitution G A intron_variant MELA-AU 5 133557343 133557343 single base substitution G A intron_variant MELA-AU 5 133557621 133557621 single base substitution T G intron_variant MELA-AU 5 133557646 133557646 single base substitution A G intron_variant MELA-AU 5 133557773 133557773 single base substitution G A intron_variant MELA-AU 5 133557969 133557975 deletion of <=200bp CAAATCA - intron_variant MELA-AU 5 133558703 133558703 single base substitution G A intron_variant MELA-AU 5 133560425 133560425 single base substitution G A intron_variant MELA-AU 5 133560425 133560425 single base substitution G A upstream_gene_variant MELA-AU 5 133562720 133562720 single base substitution A G upstream_gene_variant MELA-AU 5 133563541 133563541 single base substitution G A upstream_gene_variant MELA-AU 5 133563917 133563917 single base substitution T C upstream_gene_variant MELA-AU 5 133563943 133563943 single base substitution G A upstream_gene_variant MELA-AU 5 133565214 133565214 single base substitution C T upstream_gene_variant MELA-AU 5 133566071 133566071 single base substitution C T upstream_gene_variant MELA-AU 5 133566142 133566142 single base substitution G A upstream_gene_variant MELA-AU 5 133566311 133566311 single base substitution G A upstream_gene_variant MELA-AU 5 133566762 133566762 single base substitution C T upstream_gene_variant ORCA-IN 5 133546074 133546074 single base substitution G A intron_variant ORCA-IN 5 133546772 133546772 single base substitution G C intron_variant ORCA-IN 5 133565132 133565132 single base substitution C G upstream_gene_variant OV-AU 5 133527853 133527853 single base substitution G A downstream_gene_variant OV-AU 5 133528590 133528590 single base substitution G A downstream_gene_variant OV-AU 5 133535211 133535211 single base substitution C T downstream_gene_variant OV-AU 5 133535211 133535211 single base substitution C T intron_variant OV-AU 5 133535211 133535211 single base substitution C T upstream_gene_variant OV-AU 5 133535212 133535212 single base substitution A T downstream_gene_variant OV-AU 5 133535212 133535212 single base substitution A T intron_variant OV-AU 5 133535212 133535212 single base substitution A T upstream_gene_variant OV-AU 5 133544974 133544974 single base substitution A G intron_variant OV-AU 5 133549552 133549552 single base substitution G T intron_variant OV-AU 5 133553252 133553252 single base substitution C G intron_variant OV-AU 5 133554364 133554364 single base substitution T C intron_variant OV-AU 5 133559325 133559325 single base substitution G C intron_variant OV-US 5 133537663 133537663 single base substitution C G downstream_gene_variant OV-US 5 133537663 133537663 single base substitution C G exon_variant OV-US 5 133537663 133537663 single base substitution C G missense_variant R108T 323G>C OV-US 5 133537663 133537663 single base substitution C G missense_variant R121T 362G>C OV-US 5 133537663 133537663 single base substitution C G missense_variant R56T 167G>C OV-US 5 133537663 133537663 single base substitution C G upstream_gene_variant PACA-AU 5 133527092 133527092 single base substitution C A downstream_gene_variant PACA-AU 5 133530467 133530467 single base substitution T C 3_prime_UTR_variant PACA-AU 5 133530467 133530467 single base substitution T C downstream_gene_variant PACA-AU 5 133536876 133536876 single base substitution G A downstream_gene_variant PACA-AU 5 133536876 133536876 single base substitution G A intron_variant PACA-AU 5 133536876 133536876 single base substitution G A upstream_gene_variant PACA-AU 5 133538043 133538043 single base substitution T G downstream_gene_variant PACA-AU 5 133538043 133538043 single base substitution T G exon_variant PACA-AU 5 133538043 133538043 single base substitution T G intron_variant PACA-AU 5 133538043 133538043 single base substitution T G upstream_gene_variant PACA-AU 5 133538052 133538052 single base substitution T A downstream_gene_variant PACA-AU 5 133538052 133538052 single base substitution T A exon_variant PACA-AU 5 133538052 133538052 single base substitution T A intron_variant PACA-AU 5 133538052 133538052 single base substitution T A upstream_gene_variant PACA-AU 5 133538144 133538144 single base substitution T G downstream_gene_variant PACA-AU 5 133538144 133538144 single base substitution T G exon_variant PACA-AU 5 133538144 133538144 single base substitution T G intron_variant PACA-AU 5 133538144 133538144 single base substitution T G upstream_gene_variant PACA-AU 5 133538156 133538176 deletion of <=200bp TCATATAAATGGAATACAAAA - downstream_gene_variant PACA-AU 5 133538156 133538176 deletion of <=200bp TCATATAAATGGAATACAAAA - exon_variant PACA-AU 5 133538156 133538176 deletion of <=200bp TCATATAAATGGAATACAAAA - intron_variant PACA-AU 5 133538156 133538176 deletion of <=200bp TCATATAAATGGAATACAAAA - upstream_gene_variant PACA-AU 5 133540359 133540359 single base substitution C T intron_variant PACA-AU 5 133540359 133540359 single base substitution C T upstream_gene_variant PACA-AU 5 133543681 133543681 single base substitution C T intron_variant PACA-AU 5 133550661 133550661 single base substitution G A intron_variant PACA-AU 5 133552793 133552793 single base substitution G A intron_variant PACA-CA 5 133525908 133525908 single base substitution C A downstream_gene_variant PACA-CA 5 133526098 133526098 single base substitution C T downstream_gene_variant PACA-CA 5 133529164 133529164 single base substitution C T downstream_gene_variant PACA-CA 5 133530460 133530460 single base substitution C T 3_prime_UTR_variant PACA-CA 5 133530460 133530460 single base substitution C T downstream_gene_variant PACA-CA 5 133531247 133531247 single base substitution G A 3_prime_UTR_variant PACA-CA 5 133531247 133531247 single base substitution G A downstream_gene_variant PACA-CA 5 133532078 133532078 single base substitution T C 3_prime_UTR_variant PACA-CA 5 133532078 133532078 single base substitution T C downstream_gene_variant PACA-CA 5 133532858 133532858 deletion of <=200bp A - 3_prime_UTR_variant PACA-CA 5 133532858 133532858 deletion of <=200bp A - downstream_gene_variant PACA-CA 5 133538797 133538797 single base substitution A T downstream_gene_variant PACA-CA 5 133538797 133538797 single base substitution A T intron_variant PACA-CA 5 133538797 133538797 single base substitution A T upstream_gene_variant PACA-CA 5 133539419 133539419 deletion of <=200bp T - intron_variant PACA-CA 5 133539419 133539419 deletion of <=200bp T - upstream_gene_variant PACA-CA 5 133542079 133542079 single base substitution T A intron_variant PACA-CA 5 133542079 133542079 single base substitution T A upstream_gene_variant PACA-CA 5 133543283 133543283 single base substitution A T intron_variant PACA-CA 5 133548369 133548369 insertion of <=200bp - GGC intron_variant PACA-CA 5 133560749 133560749 insertion of <=200bp - A intron_variant PACA-CA 5 133560749 133560749 insertion of <=200bp - A upstream_gene_variant PACA-CA 5 133565886 133565886 single base substitution T G upstream_gene_variant PAEN-AU 5 133525599 133525602 deletion of <=200bp AAAG - downstream_gene_variant PAEN-AU 5 133556967 133556967 single base substitution T C intron_variant PAEN-IT 5 133535928 133535928 single base substitution G A downstream_gene_variant PAEN-IT 5 133535928 133535928 single base substitution G A intron_variant PAEN-IT 5 133535928 133535928 single base substitution G A upstream_gene_variant PAEN-IT 5 133564790 133564790 single base substitution C T upstream_gene_variant PBCA-DE 5 133525653 133525653 single base substitution G T downstream_gene_variant PBCA-DE 5 133526664 133526664 deletion of <=200bp G - downstream_gene_variant PBCA-DE 5 133551440 133551440 single base substitution T A intron_variant PBCA-DE 5 133552912 133552912 single base substitution G A intron_variant PRAD-CA 5 133537224 133537224 single base substitution A T downstream_gene_variant PRAD-CA 5 133537224 133537224 single base substitution A T intron_variant PRAD-CA 5 133537224 133537224 single base substitution A T upstream_gene_variant PRAD-CA 5 133560330 133560330 single base substitution A G intron_variant PRAD-CA 5 133560330 133560330 single base substitution A G upstream_gene_variant PRAD-UK 5 133525686 133525686 single base substitution C G downstream_gene_variant PRAD-UK 5 133531575 133531575 single base substitution C T 3_prime_UTR_variant PRAD-UK 5 133531575 133531575 single base substitution C T downstream_gene_variant PRAD-UK 5 133533469 133533471 deletion of <=200bp GAA - downstream_gene_variant PRAD-UK 5 133533469 133533471 deletion of <=200bp GAA - exon_variant PRAD-UK 5 133533469 133533471 deletion of <=200bp GAA - inframe_deletion F308 PRAD-UK 5 133541163 133541163 single base substitution C T intron_variant PRAD-UK 5 133541163 133541163 single base substitution C T upstream_gene_variant PRAD-UK 5 133562134 133562134 single base substitution C T upstream_gene_variant READ-US 5 133537617 133537617 single base substitution T C downstream_gene_variant READ-US 5 133537617 133537617 single base substitution T C exon_variant READ-US 5 133537617 133537617 single base substitution T C synonymous_variant K123K 369A>G READ-US 5 133537617 133537617 single base substitution T C synonymous_variant K136K 408A>G READ-US 5 133537617 133537617 single base substitution T C synonymous_variant K71K 213A>G READ-US 5 133537617 133537617 single base substitution T C upstream_gene_variant RECA-EU 5 133531095 133531095 single base substitution A T 3_prime_UTR_variant RECA-EU 5 133531095 133531095 single base substitution A T downstream_gene_variant RECA-EU 5 133531175 133531175 single base substitution G A 3_prime_UTR_variant RECA-EU 5 133531175 133531175 single base substitution G A downstream_gene_variant RECA-EU 5 133537997 133537997 single base substitution A G downstream_gene_variant RECA-EU 5 133537997 133537997 single base substitution A G exon_variant RECA-EU 5 133537997 133537997 single base substitution A G intron_variant RECA-EU 5 133537997 133537997 single base substitution A G upstream_gene_variant RECA-EU 5 133553900 133553900 single base substitution T A intron_variant RECA-EU 5 133554827 133554827 single base substitution G A intron_variant RECA-EU 5 133558392 133558392 single base substitution T C intron_variant RECA-EU 5 133560970 133560970 single base substitution T G intron_variant RECA-EU 5 133560970 133560970 single base substitution T G upstream_gene_variant SKCA-BR 5 133527501 133527501 single base substitution G A downstream_gene_variant SKCA-BR 5 133527502 133527502 single base substitution G A downstream_gene_variant SKCA-BR 5 133533935 133533935 single base substitution T A downstream_gene_variant SKCA-BR 5 133533935 133533935 single base substitution T A intron_variant SKCA-BR 5 133535852 133535852 single base substitution G A downstream_gene_variant SKCA-BR 5 133535852 133535852 single base substitution G A intron_variant SKCA-BR 5 133535852 133535852 single base substitution G A upstream_gene_variant SKCA-BR 5 133535853 133535853 single base substitution A G downstream_gene_variant SKCA-BR 5 133535853 133535853 single base substitution A G intron_variant SKCA-BR 5 133535853 133535853 single base substitution A G upstream_gene_variant SKCA-BR 5 133537400 133537400 single base substitution A T downstream_gene_variant SKCA-BR 5 133537400 133537400 single base substitution A T intron_variant SKCA-BR 5 133537400 133537400 single base substitution A T upstream_gene_variant SKCA-BR 5 133541414 133541419 deletion of <=200bp CTTTTG - intron_variant SKCA-BR 5 133541414 133541419 deletion of <=200bp CTTTTG - upstream_gene_variant SKCA-BR 5 133543274 133543274 single base substitution A C intron_variant SKCA-BR 5 133548945 133548945 single base substitution A C intron_variant SKCA-BR 5 133550788 133550789 deletion of <=200bp CT - intron_variant SKCA-BR 5 133561418 133561418 single base substitution G C intron_variant SKCA-BR 5 133561418 133561418 single base substitution G C upstream_gene_variant SKCA-BR 5 133563366 133563366 insertion of <=200bp - GA upstream_gene_variant SKCA-BR 5 133563743 133563743 insertion of <=200bp - TC upstream_gene_variant SKCA-BR 5 133563744 133563744 single base substitution T C upstream_gene_variant SKCA-BR 5 133566771 133566771 single base substitution C T upstream_gene_variant SKCM-US 5 133536105 133536105 single base substitution A G downstream_gene_variant SKCM-US 5 133536105 133536105 single base substitution A G missense_variant F220S 659T>C SKCM-US 5 133536105 133536105 single base substitution A G upstream_gene_variant SKCM-US 5 133541810 133541810 single base substitution G A 5_prime_UTR_premature_start_codon_gain_variant SKCM-US 5 133541810 133541810 single base substitution G A exon_variant SKCM-US 5 133541810 133541810 single base substitution G A synonymous_variant L26L 76C>T SKCM-US 5 133541810 133541810 single base substitution G A synonymous_variant L39L 115C>T SKCM-US 5 133541810 133541810 single base substitution G A upstream_gene_variant STAD-US 5 133536190 133536190 deletion of <=200bp A - downstream_gene_variant STAD-US 5 133536190 133536190 deletion of <=200bp A - splice_region_variant STAD-US 5 133536190 133536190 deletion of <=200bp A - upstream_gene_variant STAD-US 5 133536726 133536726 single base substitution T C downstream_gene_variant STAD-US 5 133536726 133536726 single base substitution T C exon_variant STAD-US 5 133536726 133536726 single base substitution T C missense_variant T111A 331A>G STAD-US 5 133536726 133536726 single base substitution T C missense_variant T176A 526A>G STAD-US 5 133536726 133536726 single base substitution T C upstream_gene_variant STAD-US 5 133536739 133536739 single base substitution C T downstream_gene_variant STAD-US 5 133536739 133536739 single base substitution C T exon_variant STAD-US 5 133536739 133536739 single base substitution C T synonymous_variant S106S 318G>A STAD-US 5 133536739 133536739 single base substitution C T synonymous_variant S171S 513G>A STAD-US 5 133536739 133536739 single base substitution C T upstream_gene_variant STAD-US 5 133537696 133537696 single base substitution C T downstream_gene_variant STAD-US 5 133537696 133537696 single base substitution C T exon_variant STAD-US 5 133537696 133537696 single base substitution C T missense_variant R110H 329G>A STAD-US 5 133537696 133537696 single base substitution C T missense_variant R45H 134G>A STAD-US 5 133537696 133537696 single base substitution C T missense_variant R97H 290G>A STAD-US 5 133537696 133537696 single base substitution C T upstream_gene_variant STAD-US 5 133541779 133541779 single base substitution C T 5_prime_UTR_variant STAD-US 5 133541779 133541779 single base substitution C T exon_variant STAD-US 5 133541779 133541779 single base substitution C T missense_variant R36Q 107G>A STAD-US 5 133541779 133541779 single base substitution C T missense_variant R49Q 146G>A STAD-US 5 133541779 133541779 single base substitution C T upstream_gene_variant STAD-US 5 133561534 133561534 single base substitution T C exon_variant STAD-US 5 133561534 133561534 single base substitution T C missense_variant T7A 19A>G STAD-US 5 133561534 133561534 single base substitution T C upstream_gene_variant THCA-SA 5 133536167 133536167 single base substitution C T downstream_gene_variant THCA-SA 5 133536167 133536167 single base substitution C T synonymous_variant L199L 597G>A THCA-SA 5 133536167 133536167 single base substitution C T upstream_gene_variant UCEC-US 5 133534831 133534831 single base substitution C T downstream_gene_variant UCEC-US 5 133534831 133534831 single base substitution C T exon_variant UCEC-US 5 133534831 133534831 single base substitution C T missense_variant R268H 803G>A UCEC-US 5 133536744 133536744 single base substitution G T downstream_gene_variant UCEC-US 5 133536744 133536744 single base substitution G T exon_variant UCEC-US 5 133536744 133536744 single base substitution G T missense_variant L105I 313C>A UCEC-US 5 133536744 133536744 single base substitution G T missense_variant L170I 508C>A UCEC-US 5 133536744 133536744 single base substitution G T upstream_gene_variant UCEC-US 5 133536760 133536760 single base substitution G T downstream_gene_variant UCEC-US 5 133536760 133536760 single base substitution G T exon_variant UCEC-US 5 133536760 133536760 single base substitution G T missense_variant F164L 492C>A UCEC-US 5 133536760 133536760 single base substitution G T missense_variant F99L 297C>A UCEC-US 5 133536760 133536760 single base substitution G T upstream_gene_variant UCEC-US 5 133537648 133537648 single base substitution A G downstream_gene_variant UCEC-US 5 133537648 133537648 single base substitution A G exon_variant UCEC-US 5 133537648 133537648 single base substitution A G missense_variant V113A 338T>C UCEC-US 5 133537648 133537648 single base substitution A G missense_variant V126A 377T>C UCEC-US 5 133537648 133537648 single base substitution A G missense_variant V61A 182T>C UCEC-US 5 133537648 133537648 single base substitution A G upstream_gene_variant UCEC-US 5 133537682 133537682 single base substitution G A downstream_gene_variant UCEC-US 5 133537682 133537682 single base substitution G A exon_variant UCEC-US 5 133537682 133537682 single base substitution G A stop_gained R102* 304C>T UCEC-US 5 133537682 133537682 single base substitution G A stop_gained R115* 343C>T UCEC-US 5 133537682 133537682 single base substitution G A stop_gained R50* 148C>T UCEC-US 5 133537682 133537682 single base substitution G A upstream_gene_variant UCEC-US 5 133537696 133537696 single base substitution C T downstream_gene_variant UCEC-US 5 133537696 133537696 single base substitution C T exon_variant UCEC-US 5 133537696 133537696 single base substitution C T missense_variant R110H 329G>A UCEC-US 5 133537696 133537696 single base substitution C T missense_variant R45H 134G>A UCEC-US 5 133537696 133537696 single base substitution C T missense_variant R97H 290G>A UCEC-US 5 133537696 133537696 single base substitution C T upstream_gene_variant

Mutation - COSMIC Sample Name Mutation ID Mutation CDS Mutation AA Mutation Description Mutation Genome Position Mutation Strand ESO-0133 COSM1262882 c.28C>T p.L10L Substitution - coding silent 5:134225834-134225834 - S01020 COSM5665253 c.607C>T p.P203S Substitution - Missense 5:134200466-134200466 - ESCC_BICR_066T COSM5444668 c.674C>T p.S225F Substitution - Missense 5:134200399-134200399 - TCGA-BR-4201-01 COSM1433159 c.513G>A p.S171S Substitution - coding silent 5:134201048-134201048 - CHEWS003 COSM4585400 c.837C>T p.D279D Substitution - coding silent 5:134199106-134199106 - Pat_53_B COSM5867286 c.838G>A p.D280N Substitution - Missense 5:134199105-134199105 - CHC961T COSM4798698 c.446T>C p.L149P Substitution - Missense 5:134201888-134201888 - TCGA-BR-4184-01 COSM1060853 c.329G>A p.R110H Substitution - Missense 5:134202005-134202005 - CHC1337T COSM3669382 c.924C>A p.F308L Substitution - Missense 5:134197778-134197778 - P126 COSM1736824 c.194T>C p.L65P Substitution - Missense 5:134206040-134206040 - TCGA-AA-A010-01 COSM284190 c.489C>A p.I163I Substitution - coding silent 5:134201072-134201072 - ESCC_153 COSM5645759 c.99G>A p.E33E Substitution - coding silent 5:134225763-134225763 - CHC961T COSM4798698 c.446T>C p.L149P Substitution - Missense 5:134201888-134201888 - PT42 COSM5925213 c.739-8C>T p.? Unknown 5:134199212-134199212 - RK212_C01 COSM3768138 c.331A>T p.I111F Substitution - Missense 5:134202003-134202003 - 449 COSM4435527 c.676G>C p.E226Q Substitution - Missense 5:134200397-134200397 - sysucc-1370T COSM5471954 c.677A>C p.E226A Substitution - Missense 5:134200396-134200396 - T3080 COSM4671202 c.840T>C p.D280D Substitution - coding silent 5:134199103-134199103 - ACINAR03 COSM1733178 c.914delC p.P305fs*>5 Deletion - Frameshift 5:134197788-134197788 - PT42 COSM5925212 c.739-7C>T p.? Unknown 5:134199211-134199211 - TCGA-G3-A25U-01 COSM4910921 c.490T>C p.F164L Substitution - Missense 5:134201071-134201071 - BD191T COSM5499640 c.132C>T p.N44N Substitution - coding silent 5:134206102-134206102 - S02286 COSM5685398 c.516A>G p.P172P Substitution - coding silent 5:134201045-134201045 - SC_9072 COSM5562615 c.152C>T p.P51L Substitution - Missense 5:134206082-134206082 - 60T COSM106424 c.640C>T p.R214* Substitution - Nonsense 5:134200433-134200433 - RK155_C01 COSM3702700 c.523G>C p.D175H Substitution - Missense 5:134201038-134201038 - TCGA-GV-A3JZ-01 COSM1310546 c.617G>A p.R206H Substitution - Missense 5:134200456-134200456 - TCGA-B5-A0JY-01 COSM1060849 c.508C>A p.L170I Substitution - Missense 5:134201053-134201053 - TCGA-04-1349-01 COSM76039 c.362G>C p.R121T Substitution - Missense 5:134201972-134201972 - 2293782 COSM4609115 c.752G>T p.C251F Substitution - Missense 5:134199191-134199191 - TCGA-GN-A267-06 COSM3608554 c.659T>C p.F220S Substitution - Missense 5:134200414-134200414 - TCGA-BR-8591-01 COSM3850156 c.146G>A p.R49Q Substitution - Missense 5:134206088-134206088 - PTC_218 COSM5959908 c.597G>A p.L199L Substitution - coding silent 5:134200476-134200476 - XHDG04 COSM4768135 c.283G>A p.E95K Substitution - Missense 5:134205951-134205951 - PD23574a COSM5771349 c.604G>C p.D202H Substitution - Missense 5:134200469-134200469 - sysucc-1317T COSM5450051 c.572A>G p.H191R Substitution - Missense 5:134200989-134200989 - TCGA-EI-6881-01 COSM3428908 c.408A>G p.K136K Substitution - coding silent 5:134201926-134201926 - TCGA-33-6737-01 COSM735674 c.759C>T p.D253D Substitution - coding silent 5:134199184-134199184 - TCGA-24-2271-01 COSM79022 c.145C>T p.R49* Substitution - Nonsense 5:134206089-134206089 - TCGA-CG-5721-01 COSM3850157 c.19A>G p.T7A Substitution - Missense 5:134225843-134225843 - PAPAGK COSM1433159 c.513G>A p.S171S Substitution - coding silent 5:134201048-134201048 - TCGA-FG-7637-01 COSM3975163 c.793T>A p.Y265N Substitution - Missense 5:134199150-134199150 - TCGA-BS-A0UF-01 COSM1060853 c.329G>A p.R110H Substitution - Missense 5:134202005-134202005 - TCGA-EO-A1Y5-01 COSM1060848 c.803G>A p.R268H Substitution - Missense 5:134199140-134199140 - TCGA-BT-A2LA-01 COSM1310547 c.393T>C p.D131D Substitution - coding silent 5:134201941-134201941 - TCGA-AX-A05Z-01 COSM1060852 c.343C>T p.R115* Substitution - Nonsense 5:134201991-134201991 - HCC135 COSM3661405 c.664C>G p.Q222E Substitution - Missense 5:134200409-134200409 - TCGA-A8-A08O-01 COSM448598 c.460C>T p.P154S Substitution - Missense 5:134201874-134201874 - TCGA-BH-A2L8-01 COSM3826766 c.889G>A p.E297K Substitution - Missense 5:134197813-134197813 - 112158 COSM95055 c.389A>G p.Y130C Substitution - Missense 5:134201945-134201945 - LUAD-F00162 COSM366540 c.589G>T p.D197Y Substitution - Missense 5:134200484-134200484 - TCGA-AK-3454-01 COSM3365828 c.862C>T p.Q288* Substitution - Nonsense 5:134197840-134197840 - TCGA-CG-5721-01 COSM3850155 c.526A>G p.T176A Substitution - Missense 5:134201035-134201035 - HCC135T COSM3661405 c.664C>G p.Q222E Substitution - Missense 5:134200409-134200409 - TCGA-D1-A17F-01 COSM1060854 c.219C>T p.G73G Substitution - coding silent 5:134206015-134206015 - Left_iliac_crest COSM5783234 c.922_924delTTC p.F308delF Deletion - In frame 5:134197778-134197780 - 40M COSM1060852 c.343C>T p.R115* Substitution - Nonsense 5:134201991-134201991 - S00936 COSM317900 c.673T>C p.S225P Substitution - Missense 5:134200400-134200400 - TCGA-BP-4964-01 COSM481934 c.733A>T p.M245L Substitution - Missense 5:134200340-134200340 - TCGA-BS-A0UV-01 COSM1060850 c.492C>A p.F164L Substitution - Missense 5:134201069-134201069 - PD9575a COSM5769690 c.410A>C p.Y137S Substitution - Missense 5:134201924-134201924 - TCGA-EE-A2MU-06 COSM3608555 c.115C>T p.L39L Substitution - coding silent 5:134206119-134206119 - TCGA-AP-A0LM-01 COSM1060851 c.377T>C p.V126A Substitution - Missense 5:134201957-134201957 - TCGA-F4-6856-01 COSM1433159 c.513G>A p.S171S Substitution - coding silent 5:134201048-134201048 -

Mutation - CGAP UNIGENE CYTOBAND OMIM SNP Hs.105818 5q31.1 176915 2401055|CGAP|BC000400|G/T|non-coding||1727|Candidate; 2401055|CGAP|BC002657|G/T|non-coding||1727|Candidate; 2401055|CGAP|BC019275|G/T|non-coding||1727|Candidate; 2401055|CGAP|BC031696|G/T|non-coding||1727|Candidate

Mutation - IntOGen Mutated from(ref) Mutated to(alt) Consequence Type AA Mutation CDS Mutation Chr Pos Cancer A G Missense p.F220S c.659T>C 5 133536105 CM A G Missense p.S225P c.673T>C 5 133536091 SCLC A G Synonymous p.D131D c.393T>C 5 133537632 BLCA A G Synonymous p.T53T c.159T>C 5 133541766 LUAD A T Missense p.Y265N c.793T>A 5 133534841 LGG C A Missense p.G193C c.577G>T 5 133536187 LUAD CCACCAATTCTAAACAGTT - Frameshift p.E67Afs*29 c.200_218delAACTGTTTAGAATTGGTGG 5 133541707 BRCA C G Missense p.R121T c.362G>C 5 133537663 OV C T Missense p.R206H c.617G>A 5 133536147 BLCA C T Missense p.R268H c.803G>A 5 133534831 UCEC C T Synonymous p.S171S c.513G>A 5 133536739 STAD G A IntronicSNV . c.313-52C>T 5 133537764 CM G A Missense p.P154S c.460C>T 5 133537565 BRCA G A Nonsense p.Q288* c.862C>T 5 133533531 RCCC G A Nonsense p.R49* c.145C>T 5 133541780 OV G A Synonymous p.D253D c.759C>T 5 133534875 LUSC G A Synonymous p.L10L c.28C>T 5 133561525 ESCA G A Synonymous p.L39L c.115C>T 5 133541810 CM G T IntronicSNV . c.312+86C>A 5 133541527 DLBCL T C IntronicSNV . c.312+10A>G 5 133541603 HNSC