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 3 136646888 136646888 + Silent SNP C C G TCGA-XF-AAN1-01A-31D-A42E-08 TCGA-XF-AAN1-10A-01D-A42H-08 g.chr3:136646888C>G c.45C>G c.(43-45)gcC>gcG p.A15A BLCA 3 136664519 136664519 + Silent SNP C C G TCGA-4Z-AA7W-01A-11D-A391-08 TCGA-4Z-AA7W-10A-01D-A394-08 g.chr3:136664519C>G c.321C>G c.(319-321)ctC>ctG p.L107L BLCA 3 136664750 136664750 + Silent SNP T T C TCGA-XF-A9SY-01A-21D-A42E-08 TCGA-XF-A9SY-10A-01D-A42H-08 g.chr3:136664750T>C c.552T>C c.(550-552)aaT>aaC p.N184N BLCA 3 136664965 136664965 + Missense_Mutation SNP C C A TCGA-XF-A9T6-01A-11D-A42E-08 TCGA-XF-A9T6-10A-01D-A42H-08 g.chr3:136664965C>A c.767C>A c.(766-768)aCt>aAt p.T256N BLCA 3 136667120 136667120 + Missense_Mutation SNP C C T TCGA-BT-A2LB-01A-11D-A18F-08 TCGA-BT-A2LB-10A-01D-A18F-08 g.chr3:136667120C>T c.959C>T c.(958-960)tCa>tTa p.S320L BRCA 3 136664596 136664596 + Missense_Mutation SNP T T G TCGA-A8-A0A6-01A-12W-A071-09 TCGA-A8-A0A6-10A-01W-A071-09 g.chr3:136664596T>G c.398T>G c.(397-399)gTg>gGg p.V133G BRCA 3 136664690 136664690 + Silent SNP T T G TCGA-A8-A0A6-01A-12W-A071-09 TCGA-A8-A0A6-10A-01W-A071-09 g.chr3:136664690T>G c.492T>G c.(490-492)ggT>ggG p.G164G BRCA 3 136667105 136667105 + Missense_Mutation SNP A A G TCGA-A8-A084-01A-21W-A019-09 TCGA-A8-A084-10A-01W-A021-09 g.chr3:136667105A>G c.944A>G c.(943-945)aAt>aGt p.N315S CESC 3 136664454 136664454 + Missense_Mutation SNP G G A TCGA-DS-A0VN-01A-21D-A10S-08 TCGA-DS-A0VN-10A-01D-A10S-08 g.chr3:136664454G>A c.256G>A c.(256-258)Gtg>Atg p.V86M CESC 3 136664512 136664512 + Missense_Mutation SNP A A G TCGA-IR-A3LC-01A-11D-A20U-09 TCGA-IR-A3LC-10A-01D-A20U-09 g.chr3:136664512A>G c.314A>G c.(313-315)tAt>tGt p.Y105C COAD 3 136646930 136646930 + Silent SNP A A G TCGA-AA-3947-01A-01W-0995-10 TCGA-AA-3947-10A-01W-0995-10 g.chr3:136646930A>G c.87A>G c.(85-87)ttA>ttG p.L29L COAD 3 136664708 136664708 + Silent SNP C C T TCGA-AD-6964-01A-11D-1924-10 TCGA-AD-6964-10A-01D-1924-10 g.chr3:136664708C>T c.510C>T c.(508-510)gaC>gaT p.D170D COADREAD 3 136646930 136646930 + Silent SNP A A G TCGA-AA-3947-01A-01W-0995-10 TCGA-AA-3947-10A-01W-0995-10 g.chr3:136646930A>G c.87A>G c.(85-87)ttA>ttG p.L29L COADREAD 3 136646963 136646963 + Silent SNP A A G TCGA-EF-5830-01A-01D-1657-10 TCGA-EF-5830-10A-01D-1657-10 g.chr3:136646963A>G c.120A>G c.(118-120)cgA>cgG p.R40R COADREAD 3 136664708 136664708 + Silent SNP C C T TCGA-AD-6964-01A-11D-1924-10 TCGA-AD-6964-10A-01D-1924-10 g.chr3:136664708C>T c.510C>T c.(508-510)gaC>gaT p.D170D COADREAD 3 136664729 136664729 + Missense_Mutation SNP G G T TCGA-AG-A002-01A-01W-A00K-09 TCGA-AG-A002-10A-01W-A00K-09 g.chr3:136664729G>T c.531G>T c.(529-531)gaG>gaT p.E177D ESCA 3 136664643 136664643 + Missense_Mutation SNP A A C TCGA-IG-A4P3-01A-11D-A27G-09 TCGA-IG-A4P3-10A-01D-A27G-09 g.chr3:136664643A>C c.445A>C c.(445-447)Aat>Cat p.N149H GBMLGG 3 136646967 136646967 + Nonsense_Mutation SNP C C T TCGA-DU-A5TW-01A-11D-A289-08 TCGA-DU-A5TW-10A-01D-A289-08 g.chr3:136646967C>T c.124C>T c.(124-126)Cga>Tga p.R42* GBMLGG 3 136665137 136665137 + Splice_Site SNP G G A TCGA-DU-6392-01A-11D-1705-08 TCGA-DU-6392-10A-01D-1705-08 g.chr3:136665137G>A c.939G>A c.(937-939)tcG>tcA p.S313S HNSC 3 136646895 136646895 + Missense_Mutation SNP G G A TCGA-P3-A6T6-01A-11D-A34J-08 TCGA-P3-A6T6-10A-01D-A34M-08 g.chr3:136646895G>A c.52G>A c.(52-54)Gaa>Aaa p.E18K HNSC 3 136664663 136664663 + Missense_Mutation SNP C C A TCGA-BA-5152-01A-02D-1870-08 TCGA-BA-5152-10A-01D-1870-08 g.chr3:136664663C>A c.465C>A c.(463-465)ttC>ttA p.F155L HNSC 3 136664745 136664745 + Missense_Mutation SNP G G A TCGA-CR-6482-01A-11D-1870-08 TCGA-CR-6482-10A-01D-1870-08 g.chr3:136664745G>A c.547G>A c.(547-549)Gtc>Atc p.V183I HNSC 3 136665013 136665013 + Missense_Mutation SNP C C T TCGA-BA-6870-01A-11D-1870-08 TCGA-BA-6870-10A-01D-1870-08 g.chr3:136665013C>T c.815C>T c.(814-816)tCa>tTa p.S272L HNSC 3 136667114 136667114 + Nonsense_Mutation SNP C C G TCGA-CV-7099-01A-41D-2012-08 TCGA-CV-7099-10A-01D-2013-08 g.chr3:136667114C>G c.953C>G c.(952-954)tCa>tGa p.S318* LGG 3 136646967 136646967 + Nonsense_Mutation SNP C C T TCGA-DU-A5TW-01A-11D-A289-08 TCGA-DU-A5TW-10A-01D-A289-08 g.chr3:136646967C>T c.124C>T c.(124-126)Cga>Tga p.R42* LGG 3 136665137 136665137 + Splice_Site SNP G G A TCGA-DU-6392-01A-11D-1705-08 TCGA-DU-6392-10A-01D-1705-08 g.chr3:136665137G>A c.939G>A c.(937-939)tcG>tcA p.S313S LIHC 3 136664512 136664512 + Missense_Mutation SNP A A G TCGA-CC-A8HT-01A-11D-A35Z-10 TCGA-CC-A8HT-10A-01D-A35Z-10 g.chr3:136664512A>G c.314A>G c.(313-315)tAt>tGt p.Y105C LUAD 3 136646998 136646998 + Missense_Mutation SNP C C T TCGA-95-7944-01A-11D-2184-08 TCGA-95-7944-10A-01D-2184-08 g.chr3:136646998C>T c.155C>T c.(154-156)cCt>cTt p.P52L LUAD 3 136664548 136664548 + Missense_Mutation SNP A A G TCGA-17-Z049-01A-01W-0746-08 TCGA-17-Z049-11A-01W-0747-08 g.chr3:136664548A>G c.350A>G c.(349-351)tAc>tGc p.Y117C LUAD 3 136664548 136664548 + Missense_Mutation SNP A A G TCGA-O1-A52J-01A-11D-A25L-08 TCGA-O1-A52J-10A-01D-A25L-08 g.chr3:136664548A>G c.350A>G c.(349-351)tAc>tGc p.Y117C LUAD 3 136664575 136664575 + Missense_Mutation SNP C C T TCGA-O1-A52J-01A-11D-A25L-08 TCGA-O1-A52J-10A-01D-A25L-08 g.chr3:136664575C>T c.377C>T c.(376-378)tCa>tTa p.S126L LUAD 3 136664879 136664879 + Silent SNP A A T TCGA-86-8073-01A-11D-2238-08 TCGA-86-8073-10A-01D-2238-08 g.chr3:136664879A>T c.681A>T c.(679-681)ccA>ccT p.P227P LUAD 3 136665091 136665091 + Missense_Mutation SNP A A G TCGA-78-8662-01A-11D-2393-08 TCGA-78-8662-10A-01D-2393-08 g.chr3:136665091A>G c.893A>G c.(892-894)gAa>gGa p.E298G LUSC 3 136646961 136646961 + Nonsense_Mutation SNP C C T TCGA-66-2783-01A-01D-1267-08 TCGA-66-2783-11A-01D-1267-08 g.chr3:136646961C>T c.118C>T c.(118-120)Cga>Tga p.R40* LUSC 3 136664723 136664723 + Silent SNP G G T TCGA-22-5472-01A-01D-1632-08 TCGA-22-5472-11A-11D-1632-08 g.chr3:136664723G>T c.525G>T c.(523-525)ctG>ctT p.L175L LUSC 3 136665037 136665037 + Missense_Mutation SNP A A G TCGA-60-2710-01A-01D-1522-08 TCGA-60-2710-11A-01D-1522-08 g.chr3:136665037A>G c.839A>G c.(838-840)aAt>aGt p.N280S PAAD 3 136664506 136664506 + Missense_Mutation SNP G G A TCGA-IB-7651-01A-11D-2154-08 TCGA-IB-7651-10A-01D-2154-08 g.chr3:136664506G>A c.308G>A c.(307-309)cGt>cAt p.R103H PAAD 3 136664529 136664529 + Missense_Mutation SNP G G A TCGA-IB-7651-01A-11D-2154-08 TCGA-IB-7651-10A-01D-2154-08 g.chr3:136664529G>A c.331G>A c.(331-333)Gct>Act p.A111T PAAD 3 136667191 136667191 + Missense_Mutation SNP C C T TCGA-IB-7651-01A-11D-2154-08 TCGA-IB-7651-10A-01D-2154-08 g.chr3:136667191C>T c.1030C>T c.(1030-1032)Cgt>Tgt p.R344C READ 3 136646963 136646963 + Silent SNP A A G TCGA-EF-5830-01A-01D-1657-10 TCGA-EF-5830-10A-01D-1657-10 g.chr3:136646963A>G c.120A>G c.(118-120)cgA>cgG p.R40R READ 3 136664729 136664729 + Missense_Mutation SNP G G T TCGA-AG-A002-01A-01W-A00K-09 TCGA-AG-A002-10A-01W-A00K-09 g.chr3:136664729G>T c.531G>T c.(529-531)gaG>gaT p.E177D SKCM 3 136664568 136664568 + Nonsense_Mutation SNP G G T TCGA-D3-A51G-06A-11D-A25O-08 TCGA-D3-A51G-10A-01D-A25O-08 g.chr3:136664568G>T c.370G>T c.(370-372)Gaa>Taa p.E124* SKCM 3 136665000 136665000 + Missense_Mutation SNP T T G TCGA-EE-A3JI-06A-11D-A21A-08 TCGA-EE-A3JI-10A-01D-A21A-08 g.chr3:136665000T>G c.802T>G c.(802-804)Tac>Gac p.Y268D

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 3 136667120 136667120 single base substitution C T downstream_gene_variant BLCA-US 3 136667120 136667120 single base substitution C T missense_variant S123L 368C>T BLCA-US 3 136667120 136667120 single base substitution C T missense_variant S256L 767C>T BLCA-US 3 136667120 136667120 single base substitution C T missense_variant S320L 959C>T BOCA-FR 3 136589943 136589943 single base substitution T A intron_variant BRCA-EU 3 136577572 136577572 single base substitution G C upstream_gene_variant BRCA-EU 3 136578800 136578800 single base substitution C G upstream_gene_variant BRCA-EU 3 136579064 136579064 deletion of <=200bp G - upstream_gene_variant BRCA-EU 3 136580874 136580874 single base substitution T G upstream_gene_variant BRCA-EU 3 136584211 136584211 single base substitution G A intron_variant BRCA-EU 3 136584752 136584753 deletion of <=200bp TT - intron_variant BRCA-EU 3 136586734 136586734 single base substitution G A intron_variant BRCA-EU 3 136586845 136586845 single base substitution C T intron_variant BRCA-EU 3 136589881 136589881 deletion of <=200bp T - intron_variant BRCA-EU 3 136589943 136589943 single base substitution T A intron_variant BRCA-EU 3 136590226 136590226 single base substitution C T intron_variant BRCA-EU 3 136590434 136590434 single base substitution A T intron_variant BRCA-EU 3 136590883 136590887 deletion of <=200bp AGTAG - intron_variant BRCA-EU 3 136592729 136592729 single base substitution C G intron_variant BRCA-EU 3 136593906 136593906 single base substitution A G intron_variant BRCA-EU 3 136595524 136595524 deletion of <=200bp T - intron_variant BRCA-EU 3 136596400 136596400 single base substitution G A intron_variant BRCA-EU 3 136598004 136598004 single base substitution G C intron_variant BRCA-EU 3 136599336 136599336 single base substitution C G intron_variant BRCA-EU 3 136599662 136599662 single base substitution G A intron_variant BRCA-EU 3 136599971 136599971 single base substitution T C intron_variant BRCA-EU 3 136600072 136600072 deletion of <=200bp T - intron_variant BRCA-EU 3 136600351 136600351 single base substitution G A intron_variant BRCA-EU 3 136600353 136600353 single base substitution C G intron_variant BRCA-EU 3 136600741 136600741 insertion of <=200bp - AC intron_variant BRCA-EU 3 136604218 136604218 single base substitution C G intron_variant BRCA-EU 3 136604573 136604573 single base substitution C T intron_variant BRCA-EU 3 136605599 136605599 single base substitution G C intron_variant BRCA-EU 3 136606562 136606562 single base substitution G T intron_variant BRCA-EU 3 136606983 136606983 single base substitution C T intron_variant BRCA-EU 3 136607697 136607697 insertion of <=200bp - T intron_variant BRCA-EU 3 136610104 136610104 single base substitution G C intron_variant BRCA-EU 3 136610566 136610566 single base substitution T A intron_variant BRCA-EU 3 136610790 136610790 single base substitution A G intron_variant BRCA-EU 3 136615402 136615402 single base substitution C T intron_variant BRCA-EU 3 136615415 136615415 single base substitution T A intron_variant BRCA-EU 3 136616520 136616520 single base substitution C T intron_variant BRCA-EU 3 136616560 136616560 single base substitution T C intron_variant BRCA-EU 3 136617250 136617250 single base substitution G A intron_variant BRCA-EU 3 136618608 136618608 single base substitution T C intron_variant BRCA-EU 3 136618953 136618953 single base substitution A G intron_variant BRCA-EU 3 136619547 136619547 deletion of <=200bp T - intron_variant BRCA-EU 3 136619855 136619855 single base substitution A G intron_variant BRCA-EU 3 136620484 136620484 single base substitution T C intron_variant BRCA-EU 3 136620494 136620494 single base substitution T C intron_variant BRCA-EU 3 136621978 136621978 single base substitution G T intron_variant BRCA-EU 3 136622975 136622975 deletion of <=200bp T - intron_variant BRCA-EU 3 136625611 136625611 single base substitution G A intron_variant BRCA-EU 3 136627307 136627307 single base substitution C T intron_variant BRCA-EU 3 136628152 136628152 single base substitution G A intron_variant BRCA-EU 3 136628920 136628920 single base substitution G A intron_variant BRCA-EU 3 136629087 136629087 single base substitution G T intron_variant BRCA-EU 3 136629188 136629194 deletion of <=200bp CCCTTTT - intron_variant BRCA-EU 3 136630519 136630519 single base substitution C A intron_variant BRCA-EU 3 136631585 136631585 single base substitution A T intron_variant BRCA-EU 3 136632357 136632357 single base substitution G T intron_variant BRCA-EU 3 136633111 136633111 single base substitution G C intron_variant BRCA-EU 3 136633258 136633258 single base substitution G C intron_variant BRCA-EU 3 136633345 136633345 single base substitution G A intron_variant BRCA-EU 3 136634598 136634598 single base substitution C T intron_variant BRCA-EU 3 136635083 136635083 single base substitution G C intron_variant BRCA-EU 3 136636616 136636616 single base substitution G A intron_variant BRCA-EU 3 136636960 136636960 single base substitution G C intron_variant BRCA-EU 3 136637184 136637184 single base substitution G T intron_variant BRCA-EU 3 136639098 136639098 single base substitution T A intron_variant BRCA-EU 3 136639211 136639211 single base substitution T G intron_variant BRCA-EU 3 136639943 136639943 single base substitution C T intron_variant BRCA-EU 3 136640508 136640508 single base substitution G T intron_variant BRCA-EU 3 136640570 136640570 single base substitution A C intron_variant BRCA-EU 3 136642254 136642254 single base substitution C A intron_variant BRCA-EU 3 136642254 136642254 single base substitution C A upstream_gene_variant BRCA-EU 3 136643400 136643400 single base substitution G C intron_variant BRCA-EU 3 136643400 136643400 single base substitution G C upstream_gene_variant BRCA-EU 3 136643416 136643416 single base substitution C T intron_variant BRCA-EU 3 136643416 136643416 single base substitution C T upstream_gene_variant BRCA-EU 3 136643506 136643506 single base substitution T A intron_variant BRCA-EU 3 136643506 136643506 single base substitution T A upstream_gene_variant BRCA-EU 3 136644525 136644525 single base substitution T G intron_variant BRCA-EU 3 136644525 136644525 single base substitution T G upstream_gene_variant BRCA-EU 3 136644883 136644883 single base substitution C T intron_variant BRCA-EU 3 136644883 136644883 single base substitution C T upstream_gene_variant BRCA-EU 3 136646124 136646124 single base substitution C G intron_variant BRCA-EU 3 136646124 136646124 single base substitution C G upstream_gene_variant BRCA-EU 3 136646789 136646789 single base substitution T G intron_variant BRCA-EU 3 136646789 136646789 single base substitution T G upstream_gene_variant BRCA-EU 3 136647558 136647558 single base substitution C G downstream_gene_variant BRCA-EU 3 136647558 136647558 single base substitution C G exon_variant BRCA-EU 3 136647558 136647558 single base substitution C G intron_variant BRCA-EU 3 136647558 136647558 single base substitution C G upstream_gene_variant BRCA-EU 3 136648647 136648647 single base substitution C T downstream_gene_variant BRCA-EU 3 136648647 136648647 single base substitution C T intron_variant BRCA-EU 3 136648647 136648647 single base substitution C T upstream_gene_variant BRCA-EU 3 136649900 136649900 single base substitution G A downstream_gene_variant BRCA-EU 3 136649900 136649900 single base substitution G A intron_variant BRCA-EU 3 136650038 136650038 single base substitution T C downstream_gene_variant BRCA-EU 3 136650038 136650038 single base substitution T C intron_variant BRCA-EU 3 136650476 136650476 single base substitution C G downstream_gene_variant BRCA-EU 3 136650476 136650476 single base substitution C G intron_variant BRCA-EU 3 136650882 136650882 single base substitution A C downstream_gene_variant BRCA-EU 3 136650882 136650882 single base substitution A C intron_variant BRCA-EU 3 136651623 136651623 single base substitution G A downstream_gene_variant BRCA-EU 3 136651623 136651623 single base substitution G A intron_variant BRCA-EU 3 136653379 136653379 single base substitution C G intron_variant BRCA-EU 3 136653889 136653889 single base substitution G A intron_variant BRCA-EU 3 136653894 136653894 single base substitution C G intron_variant BRCA-EU 3 136654469 136654469 single base substitution G C intron_variant BRCA-EU 3 136654706 136654706 single base substitution A G intron_variant BRCA-EU 3 136654999 136654999 single base substitution C T intron_variant BRCA-EU 3 136655053 136655053 single base substitution G T intron_variant BRCA-EU 3 136656994 136656994 single base substitution T C intron_variant BRCA-EU 3 136658006 136658006 single base substitution G A intron_variant BRCA-EU 3 136660084 136660084 single base substitution C T intron_variant BRCA-EU 3 136660084 136660084 single base substitution C T upstream_gene_variant BRCA-EU 3 136660207 136660207 single base substitution A T intron_variant BRCA-EU 3 136660207 136660207 single base substitution A T upstream_gene_variant BRCA-EU 3 136660981 136660981 single base substitution C G intron_variant BRCA-EU 3 136660981 136660981 single base substitution C G upstream_gene_variant BRCA-EU 3 136661624 136661624 single base substitution C G intron_variant BRCA-EU 3 136661624 136661624 single base substitution C G upstream_gene_variant BRCA-EU 3 136663225 136663225 single base substitution G T intron_variant BRCA-EU 3 136663225 136663225 single base substitution G T upstream_gene_variant BRCA-EU 3 136663406 136663406 single base substitution T G intron_variant BRCA-EU 3 136663406 136663406 single base substitution T G upstream_gene_variant BRCA-EU 3 136663798 136663798 single base substitution A G intron_variant BRCA-EU 3 136663798 136663798 single base substitution A G upstream_gene_variant BRCA-EU 3 136663818 136663818 single base substitution C A intron_variant BRCA-EU 3 136663818 136663818 single base substitution C A upstream_gene_variant BRCA-EU 3 136664839 136664839 single base substitution G A downstream_gene_variant BRCA-EU 3 136664839 136664839 single base substitution G A exon_variant BRCA-EU 3 136664839 136664839 single base substitution G A intron_variant BRCA-EU 3 136664839 136664839 single base substitution G A missense_variant G150E 449G>A BRCA-EU 3 136664839 136664839 single base substitution G A missense_variant G214E 641G>A BRCA-EU 3 136665030 136665030 single base substitution G C downstream_gene_variant BRCA-EU 3 136665030 136665030 single base substitution G C exon_variant BRCA-EU 3 136665030 136665030 single base substitution G C missense_variant A132P 394G>C BRCA-EU 3 136665030 136665030 single base substitution G C missense_variant A214P 640G>C BRCA-EU 3 136665030 136665030 single base substitution G C missense_variant A278P 832G>C BRCA-EU 3 136665030 136665030 single base substitution G C missense_variant A81P 241G>C BRCA-EU 3 136665030 136665030 single base substitution G C missense_variant L152F 456G>C BRCA-EU 3 136667084 136667084 deletion of <=200bp T - downstream_gene_variant BRCA-EU 3 136667084 136667084 deletion of <=200bp T - intron_variant BRCA-EU 3 136667447 136667447 single base substitution C G 3_prime_UTR_variant BRCA-EU 3 136667447 136667447 single base substitution C G downstream_gene_variant BRCA-EU 3 136668033 136668033 single base substitution A C 3_prime_UTR_variant BRCA-EU 3 136668033 136668033 single base substitution A C downstream_gene_variant BRCA-EU 3 136668516 136668516 single base substitution T C 3_prime_UTR_variant BRCA-EU 3 136668516 136668516 single base substitution T C downstream_gene_variant BRCA-EU 3 136669090 136669090 deletion of <=200bp C - downstream_gene_variant BRCA-EU 3 136669097 136669097 insertion of <=200bp - A downstream_gene_variant BRCA-EU 3 136670020 136670020 single base substitution C G downstream_gene_variant BRCA-EU 3 136671139 136671139 single base substitution C A downstream_gene_variant BRCA-EU 3 136672510 136672512 deletion of <=200bp GAG - downstream_gene_variant BRCA-EU 3 136672526 136672526 single base substitution G A downstream_gene_variant BRCA-FR 3 136586845 136586845 single base substitution C T intron_variant BRCA-FR 3 136598004 136598004 single base substitution G C intron_variant BRCA-FR 3 136604218 136604218 single base substitution C G intron_variant BRCA-FR 3 136610566 136610566 single base substitution T A intron_variant BRCA-FR 3 136615123 136615123 single base substitution A G intron_variant BRCA-FR 3 136617250 136617250 single base substitution G A intron_variant BRCA-FR 3 136619058 136619058 single base substitution G T intron_variant BRCA-FR 3 136628920 136628920 single base substitution G A intron_variant BRCA-FR 3 136637686 136637686 single base substitution C T intron_variant BRCA-FR 3 136646124 136646124 single base substitution C G intron_variant BRCA-FR 3 136646124 136646124 single base substitution C G upstream_gene_variant BRCA-FR 3 136647558 136647558 single base substitution C G downstream_gene_variant BRCA-FR 3 136647558 136647558 single base substitution C G exon_variant BRCA-FR 3 136647558 136647558 single base substitution C G intron_variant BRCA-FR 3 136647558 136647558 single base substitution C G upstream_gene_variant BRCA-FR 3 136647959 136647959 single base substitution G C downstream_gene_variant BRCA-FR 3 136647959 136647959 single base substitution G C intron_variant BRCA-FR 3 136647959 136647959 single base substitution G C upstream_gene_variant BRCA-FR 3 136648647 136648647 single base substitution C T downstream_gene_variant BRCA-FR 3 136648647 136648647 single base substitution C T intron_variant BRCA-FR 3 136648647 136648647 single base substitution C T upstream_gene_variant BRCA-FR 3 136653894 136653894 single base substitution C G intron_variant BRCA-FR 3 136654999 136654999 single base substitution C T intron_variant BRCA-FR 3 136661251 136661251 single base substitution C T intron_variant BRCA-FR 3 136661251 136661251 single base substitution C T upstream_gene_variant BRCA-FR 3 136664839 136664839 single base substitution G A downstream_gene_variant BRCA-FR 3 136664839 136664839 single base substitution G A exon_variant BRCA-FR 3 136664839 136664839 single base substitution G A intron_variant BRCA-FR 3 136664839 136664839 single base substitution G A missense_variant G150E 449G>A BRCA-FR 3 136664839 136664839 single base substitution G A missense_variant G214E 641G>A BRCA-UK 3 136577572 136577572 single base substitution G C upstream_gene_variant BRCA-UK 3 136579655 136579655 single base substitution T C upstream_gene_variant BRCA-UK 3 136619855 136619855 single base substitution A G intron_variant BRCA-UK 3 136650038 136650038 single base substitution T C downstream_gene_variant BRCA-UK 3 136650038 136650038 single base substitution T C intron_variant BRCA-UK 3 136660207 136660207 single base substitution A T intron_variant BRCA-UK 3 136660207 136660207 single base substitution A T upstream_gene_variant BRCA-UK 3 136671615 136671615 single base substitution G C downstream_gene_variant BRCA-US 3 136664596 136664596 single base substitution T G downstream_gene_variant BRCA-US 3 136664596 136664596 single base substitution T G exon_variant BRCA-US 3 136664596 136664596 single base substitution T G missense_variant V133G 398T>G BRCA-US 3 136664596 136664596 single base substitution T G missense_variant V69G 206T>G BRCA-US 3 136664596 136664596 single base substitution T G splice_donor_variant BRCA-US 3 136664690 136664690 single base substitution T G downstream_gene_variant BRCA-US 3 136664690 136664690 single base substitution T G exon_variant BRCA-US 3 136664690 136664690 single base substitution T G intron_variant BRCA-US 3 136664690 136664690 single base substitution T G synonymous_variant G100G 300T>G BRCA-US 3 136664690 136664690 single base substitution T G synonymous_variant G164G 492T>G BRCA-US 3 136667105 136667105 single base substitution A G downstream_gene_variant BRCA-US 3 136667105 136667105 single base substitution A G missense_variant N118S 353A>G BRCA-US 3 136667105 136667105 single base substitution A G missense_variant N251S 752A>G BRCA-US 3 136667105 136667105 single base substitution A G missense_variant N315S 944A>G BTCA-JP 3 136649227 136649227 single base substitution G A downstream_gene_variant BTCA-JP 3 136649227 136649227 single base substitution G A intron_variant BTCA-JP 3 136649227 136649227 single base substitution G A upstream_gene_variant BTCA-JP 3 136649228 136649228 insertion of <=200bp - A downstream_gene_variant BTCA-JP 3 136649228 136649228 insertion of <=200bp - A intron_variant BTCA-JP 3 136649228 136649228 insertion of <=200bp - A upstream_gene_variant CESC-US 3 136664454 136664454 single base substitution G A missense_variant V22M 64G>A CESC-US 3 136664454 136664454 single base substitution G A missense_variant V73M 217G>A CESC-US 3 136664454 136664454 single base substitution G A missense_variant V86M 256G>A CESC-US 3 136664454 136664454 single base substitution G A upstream_gene_variant CESC-US 3 136664512 136664512 single base substitution A G missense_variant Y105C 314A>G CESC-US 3 136664512 136664512 single base substitution A G missense_variant Y41C 122A>G CESC-US 3 136664512 136664512 single base substitution A G missense_variant Y92C 275A>G CESC-US 3 136664512 136664512 single base substitution A G upstream_gene_variant CLLE-ES 3 136589466 136589466 single base substitution A G intron_variant CLLE-ES 3 136622879 136622879 single base substitution A G intron_variant CLLE-ES 3 136642070 136642070 single base substitution T A intron_variant CLLE-ES 3 136642070 136642070 single base substitution T A upstream_gene_variant CLLE-ES 3 136651746 136651746 single base substitution G A downstream_gene_variant CLLE-ES 3 136651746 136651746 single base substitution G A intron_variant COAD-US 3 136664708 136664708 single base substitution C T downstream_gene_variant COAD-US 3 136664708 136664708 single base substitution C T exon_variant COAD-US 3 136664708 136664708 single base substitution C T intron_variant COAD-US 3 136664708 136664708 single base substitution C T synonymous_variant D106D 318C>T COAD-US 3 136664708 136664708 single base substitution C T synonymous_variant D170D 510C>T COCA-CN 3 136647031 136647031 single base substitution G A exon_variant COCA-CN 3 136647031 136647031 single base substitution G A missense_variant R50Q 149G>A COCA-CN 3 136647031 136647031 single base substitution G A missense_variant R63Q 188G>A COCA-CN 3 136647031 136647031 single base substitution G A upstream_gene_variant COCA-CN 3 136647063 136647063 single base substitution A G exon_variant COCA-CN 3 136647063 136647063 single base substitution A G missense_variant T61A 181A>G COCA-CN 3 136647063 136647063 single base substitution A G missense_variant T74A 220A>G COCA-CN 3 136647063 136647063 single base substitution A G upstream_gene_variant COCA-CN 3 136664417 136664417 single base substitution T A intron_variant COCA-CN 3 136664417 136664417 single base substitution T A splice_region_variant COCA-CN 3 136664417 136664417 single base substitution T A upstream_gene_variant COCA-CN 3 136664729 136664729 single base substitution G A downstream_gene_variant COCA-CN 3 136664729 136664729 single base substitution G A exon_variant COCA-CN 3 136664729 136664729 single base substitution G A intron_variant COCA-CN 3 136664729 136664729 single base substitution G A synonymous_variant E113E 339G>A COCA-CN 3 136664729 136664729 single base substitution G A synonymous_variant E177E 531G>A COCA-CN 3 136665024 136665024 single base substitution A C downstream_gene_variant COCA-CN 3 136665024 136665024 single base substitution A C exon_variant COCA-CN 3 136665024 136665024 single base substitution A C missense_variant E150D 450A>C COCA-CN 3 136665024 136665024 single base substitution A C missense_variant K130Q 388A>C COCA-CN 3 136665024 136665024 single base substitution A C missense_variant K212Q 634A>C COCA-CN 3 136665024 136665024 single base substitution A C missense_variant K276Q 826A>C COCA-CN 3 136665024 136665024 single base substitution A C missense_variant K79Q 235A>C ESAD-UK 3 136576390 136576390 single base substitution C T upstream_gene_variant ESAD-UK 3 136577138 136577138 single base substitution C A upstream_gene_variant ESAD-UK 3 136577785 136577785 single base substitution C T upstream_gene_variant ESAD-UK 3 136580061 136580061 single base substitution G T upstream_gene_variant ESAD-UK 3 136580175 136580175 single base substitution T C upstream_gene_variant ESAD-UK 3 136581850 136581850 single base substitution T G intron_variant ESAD-UK 3 136582212 136582212 single base substitution C T intron_variant ESAD-UK 3 136583978 136583978 single base substitution T C intron_variant ESAD-UK 3 136584939 136584939 single base substitution C T intron_variant ESAD-UK 3 136586617 136586617 single base substitution A C intron_variant ESAD-UK 3 136587828 136587828 single base substitution C G intron_variant ESAD-UK 3 136587858 136587858 single base substitution G A intron_variant ESAD-UK 3 136592411 136592411 single base substitution A T intron_variant ESAD-UK 3 136592422 136592422 single base substitution A G intron_variant ESAD-UK 3 136595342 136595342 single base substitution C T intron_variant ESAD-UK 3 136601561 136601561 single base substitution G A intron_variant ESAD-UK 3 136603574 136603574 single base substitution T C intron_variant ESAD-UK 3 136605775 136605775 single base substitution T C intron_variant ESAD-UK 3 136607412 136607412 deletion of <=200bp T - intron_variant ESAD-UK 3 136609211 136609211 single base substitution G A intron_variant ESAD-UK 3 136611835 136611835 single base substitution C T intron_variant ESAD-UK 3 136618585 136618585 single base substitution C G intron_variant ESAD-UK 3 136620216 136620216 single base substitution T A intron_variant ESAD-UK 3 136621714 136621714 single base substitution A G intron_variant ESAD-UK 3 136623009 136623009 deletion of <=200bp T - intron_variant ESAD-UK 3 136623599 136623603 deletion of <=200bp TTCTC - intron_variant ESAD-UK 3 136625902 136625902 single base substitution C T intron_variant ESAD-UK 3 136627941 136627941 single base substitution C T intron_variant ESAD-UK 3 136628224 136628224 single base substitution C T intron_variant ESAD-UK 3 136628289 136628289 single base substitution A T intron_variant ESAD-UK 3 136630183 136630183 single base substitution A C intron_variant ESAD-UK 3 136630738 136630738 single base substitution A T intron_variant ESAD-UK 3 136632887 136632887 single base substitution A G intron_variant ESAD-UK 3 136634040 136634040 single base substitution A G intron_variant ESAD-UK 3 136638638 136638638 single base substitution C T intron_variant ESAD-UK 3 136639334 136639334 insertion of <=200bp - A intron_variant ESAD-UK 3 136640933 136640933 single base substitution G T intron_variant ESAD-UK 3 136641948 136641949 deletion of <=200bp TG - intron_variant ESAD-UK 3 136641948 136641949 deletion of <=200bp TG - upstream_gene_variant ESAD-UK 3 136644228 136644228 single base substitution T G intron_variant ESAD-UK 3 136644228 136644228 single base substitution T G upstream_gene_variant ESAD-UK 3 136644521 136644521 single base substitution C T intron_variant ESAD-UK 3 136644521 136644521 single base substitution C T upstream_gene_variant ESAD-UK 3 136646334 136646334 single base substitution A G intron_variant ESAD-UK 3 136646334 136646334 single base substitution A G upstream_gene_variant ESAD-UK 3 136652933 136652933 single base substitution T C intron_variant ESAD-UK 3 136653942 136653942 single base substitution C T intron_variant ESAD-UK 3 136657219 136657219 single base substitution G A intron_variant ESAD-UK 3 136660145 136660145 deletion of <=200bp T - intron_variant ESAD-UK 3 136660145 136660145 deletion of <=200bp T - upstream_gene_variant ESAD-UK 3 136660214 136660214 single base substitution C T intron_variant ESAD-UK 3 136660214 136660214 single base substitution C T upstream_gene_variant ESAD-UK 3 136661186 136661186 single base substitution G A intron_variant ESAD-UK 3 136661186 136661186 single base substitution G A upstream_gene_variant ESAD-UK 3 136665002 136665002 single base substitution C A downstream_gene_variant ESAD-UK 3 136665002 136665002 single base substitution C A exon_variant ESAD-UK 3 136665002 136665002 single base substitution C A missense_variant T143K 428C>A ESAD-UK 3 136665002 136665002 single base substitution C A stop_gained Y122* 366C>A ESAD-UK 3 136665002 136665002 single base substitution C A stop_gained Y204* 612C>A ESAD-UK 3 136665002 136665002 single base substitution C A stop_gained Y268* 804C>A ESAD-UK 3 136665002 136665002 single base substitution C A stop_gained Y71* 213C>A ESAD-UK 3 136665185 136665185 insertion of <=200bp - A downstream_gene_variant ESAD-UK 3 136665185 136665185 insertion of <=200bp - A intron_variant ESAD-UK 3 136665185 136665185 single base substitution A T downstream_gene_variant ESAD-UK 3 136665185 136665185 single base substitution A T intron_variant ESAD-UK 3 136665571 136665571 insertion of <=200bp - A downstream_gene_variant ESAD-UK 3 136665571 136665571 insertion of <=200bp - A intron_variant ESAD-UK 3 136667602 136667602 single base substitution C T 3_prime_UTR_variant ESAD-UK 3 136667602 136667602 single base substitution C T downstream_gene_variant ESAD-UK 3 136668011 136668011 single base substitution T C 3_prime_UTR_variant ESAD-UK 3 136668011 136668011 single base substitution T C downstream_gene_variant ESAD-UK 3 136669079 136669079 single base substitution C T downstream_gene_variant ESAD-UK 3 136669586 136669586 single base substitution A G downstream_gene_variant ESAD-UK 3 136669911 136669911 single base substitution T G downstream_gene_variant ESAD-UK 3 136670924 136670924 single base substitution T C downstream_gene_variant ESCA-CN 3 136649429 136649429 deletion of <=200bp T - downstream_gene_variant ESCA-CN 3 136649429 136649429 deletion of <=200bp T - frameshift_variant D9 ESCA-CN 3 136649429 136649429 deletion of <=200bp T - intron_variant LAML-KR 3 136585971 136585971 single base substitution T C intron_variant LAML-KR 3 136589510 136589510 single base substitution A T intron_variant LAML-KR 3 136605693 136605693 single base substitution C T intron_variant LAML-KR 3 136607264 136607264 single base substitution G T intron_variant LAML-KR 3 136618214 136618214 single base substitution G A intron_variant LAML-KR 3 136667020 136667020 single base substitution T C downstream_gene_variant LAML-KR 3 136667020 136667020 single base substitution T C intron_variant LGG-US 3 136646967 136646967 single base substitution C T exon_variant LGG-US 3 136646967 136646967 single base substitution C T stop_gained R29* 85C>T LGG-US 3 136646967 136646967 single base substitution C T stop_gained R42* 124C>T LGG-US 3 136646967 136646967 single base substitution C T upstream_gene_variant LICA-FR 3 136581168 136581168 single base substitution T G 5_prime_UTR_variant LICA-FR 3 136581168 136581168 single base substitution T G exon_variant LICA-FR 3 136581168 136581168 single base substitution T G intron_variant LICA-FR 3 136586248 136586248 insertion of <=200bp - TT intron_variant LICA-FR 3 136601390 136601390 insertion of <=200bp - TGTGTG intron_variant LICA-FR 3 136628879 136628881 deletion of <=200bp GTC - intron_variant LICA-FR 3 136641121 136641121 single base substitution T C intron_variant LICA-FR 3 136659959 136659959 deletion of <=200bp T - intron_variant LICA-FR 3 136659959 136659959 deletion of <=200bp T - upstream_gene_variant LICA-FR 3 136662942 136662942 single base substitution A C intron_variant LICA-FR 3 136662942 136662942 single base substitution A C upstream_gene_variant LINC-JP 3 136581710 136581710 single base substitution A C intron_variant LINC-JP 3 136588897 136588897 deletion of <=200bp G - intron_variant LINC-JP 3 136593317 136593317 single base substitution C T intron_variant LINC-JP 3 136629994 136629994 single base substitution A G intron_variant LINC-JP 3 136639919 136639919 single base substitution T G intron_variant LINC-JP 3 136646854 136646854 single base substitution A T exon_variant LINC-JP 3 136646854 136646854 single base substitution A T missense_variant E4V 11A>T LINC-JP 3 136646854 136646854 single base substitution A T upstream_gene_variant LIRI-JP 3 136578842 136578842 single base substitution C G upstream_gene_variant LIRI-JP 3 136579978 136579978 single base substitution C A upstream_gene_variant LIRI-JP 3 136579979 136579979 single base substitution C A upstream_gene_variant LIRI-JP 3 136581487 136581508 deletion of <=200bp CGCCCGTGCGAGCCTGGGAGGT - intron_variant LIRI-JP 3 136581893 136581893 single base substitution C T intron_variant LIRI-JP 3 136582060 136582060 single base substitution T C intron_variant LIRI-JP 3 136583182 136583182 single base substitution A C intron_variant LIRI-JP 3 136584385 136584385 single base substitution A T intron_variant LIRI-JP 3 136584944 136584944 single base substitution A T intron_variant LIRI-JP 3 136588659 136588659 single base substitution A G intron_variant LIRI-JP 3 136589395 136589395 single base substitution T C intron_variant LIRI-JP 3 136589492 136589492 single base substitution A G intron_variant LIRI-JP 3 136592878 136592878 single base substitution T G intron_variant LIRI-JP 3 136593619 136593619 single base substitution T C intron_variant LIRI-JP 3 136593895 136593895 single base substitution G T intron_variant LIRI-JP 3 136597162 136597162 single base substitution A G intron_variant LIRI-JP 3 136597231 136597231 single base substitution A G intron_variant LIRI-JP 3 136597732 136597732 single base substitution A G intron_variant LIRI-JP 3 136598724 136598724 single base substitution A G intron_variant LIRI-JP 3 136599921 136599921 single base substitution A G intron_variant LIRI-JP 3 136600655 136600655 single base substitution A G intron_variant LIRI-JP 3 136602720 136602720 single base substitution C T intron_variant LIRI-JP 3 136603278 136603278 single base substitution A T intron_variant LIRI-JP 3 136603588 136603588 single base substitution A G intron_variant LIRI-JP 3 136604140 136604140 single base substitution A G intron_variant LIRI-JP 3 136605434 136605434 single base substitution A G intron_variant LIRI-JP 3 136606116 136606116 single base substitution C A intron_variant LIRI-JP 3 136606133 136606133 single base substitution T C intron_variant LIRI-JP 3 136606135 136606135 single base substitution G C intron_variant LIRI-JP 3 136608935 136608935 single base substitution G T intron_variant LIRI-JP 3 136610224 136610224 single base substitution G T intron_variant LIRI-JP 3 136610288 136610288 single base substitution A T intron_variant LIRI-JP 3 136611073 136611073 single base substitution T G intron_variant LIRI-JP 3 136611398 136611398 single base substitution A C intron_variant LIRI-JP 3 136612824 136612824 single base substitution A T intron_variant LIRI-JP 3 136616553 136616553 single base substitution A T intron_variant LIRI-JP 3 136616647 136616647 single base substitution T C intron_variant LIRI-JP 3 136617355 136617355 single base substitution G C intron_variant LIRI-JP 3 136618138 136618138 single base substitution G T intron_variant LIRI-JP 3 136618400 136618400 single base substitution A G intron_variant LIRI-JP 3 136618406 136618406 single base substitution A G intron_variant LIRI-JP 3 136618498 136618498 single base substitution T C intron_variant LIRI-JP 3 136621419 136621419 single base substitution A G intron_variant LIRI-JP 3 136621441 136621441 single base substitution A G intron_variant LIRI-JP 3 136621832 136621832 single base substitution G A intron_variant LIRI-JP 3 136623046 136623046 single base substitution G A intron_variant LIRI-JP 3 136624141 136624141 single base substitution T C intron_variant LIRI-JP 3 136625035 136625035 single base substitution A C intron_variant LIRI-JP 3 136625075 136625075 single base substitution A C intron_variant LIRI-JP 3 136625135 136625135 single base substitution A C intron_variant LIRI-JP 3 136627489 136627489 single base substitution A G intron_variant LIRI-JP 3 136633514 136633514 single base substitution T C intron_variant LIRI-JP 3 136635045 136635045 single base substitution A G intron_variant LIRI-JP 3 136636500 136636500 single base substitution T G intron_variant LIRI-JP 3 136638139 136638139 single base substitution A T intron_variant LIRI-JP 3 136638730 136638730 single base substitution G A intron_variant LIRI-JP 3 136641614 136641614 single base substitution A G intron_variant LIRI-JP 3 136643505 136643505 single base substitution A G intron_variant LIRI-JP 3 136643505 136643505 single base substitution A G upstream_gene_variant LIRI-JP 3 136644994 136644994 single base substitution C T intron_variant LIRI-JP 3 136644994 136644994 single base substitution C T upstream_gene_variant LIRI-JP 3 136645265 136645265 single base substitution C T intron_variant LIRI-JP 3 136645265 136645265 single base substitution C T upstream_gene_variant LIRI-JP 3 136646821 136646821 single base substitution T C intron_variant LIRI-JP 3 136646821 136646821 single base substitution T C splice_region_variant LIRI-JP 3 136646821 136646821 single base substitution T C upstream_gene_variant LIRI-JP 3 136650280 136650280 single base substitution A G downstream_gene_variant LIRI-JP 3 136650280 136650280 single base substitution A G intron_variant LIRI-JP 3 136652074 136652074 single base substitution G A downstream_gene_variant LIRI-JP 3 136652074 136652074 single base substitution G A intron_variant LIRI-JP 3 136652880 136652880 single base substitution A G intron_variant LIRI-JP 3 136653319 136653319 single base substitution G T intron_variant LIRI-JP 3 136656375 136656375 single base substitution G T intron_variant LIRI-JP 3 136658616 136658616 single base substitution T C intron_variant LIRI-JP 3 136661897 136661897 single base substitution G T intron_variant LIRI-JP 3 136661897 136661897 single base substitution G T upstream_gene_variant LIRI-JP 3 136662007 136662007 single base substitution A G intron_variant LIRI-JP 3 136662007 136662007 single base substitution A G upstream_gene_variant LIRI-JP 3 136662618 136662618 single base substitution G T intron_variant LIRI-JP 3 136662618 136662618 single base substitution G T upstream_gene_variant LIRI-JP 3 136662619 136662619 single base substitution C T intron_variant LIRI-JP 3 136662619 136662619 single base substitution C T upstream_gene_variant LIRI-JP 3 136663131 136663131 single base substitution T C intron_variant LIRI-JP 3 136663131 136663131 single base substitution T C upstream_gene_variant LIRI-JP 3 136663249 136663249 single base substitution C T intron_variant LIRI-JP 3 136663249 136663249 single base substitution C T upstream_gene_variant LIRI-JP 3 136663970 136663970 single base substitution C A intron_variant LIRI-JP 3 136663970 136663970 single base substitution C A upstream_gene_variant LIRI-JP 3 136664624 136664624 single base substitution G T downstream_gene_variant LIRI-JP 3 136664624 136664624 single base substitution G T exon_variant LIRI-JP 3 136664624 136664624 single base substitution G T intron_variant LIRI-JP 3 136664624 136664624 single base substitution G T synonymous_variant G142G 426G>T LIRI-JP 3 136664624 136664624 single base substitution G T synonymous_variant G78G 234G>T LIRI-JP 3 136669020 136669020 single base substitution C T downstream_gene_variant LIRI-JP 3 136669048 136669048 single base substitution C T downstream_gene_variant LIRI-JP 3 136672827 136672827 single base substitution C T downstream_gene_variant LUSC-KR 3 136576935 136576935 single base substitution C A upstream_gene_variant LUSC-KR 3 136577495 136577495 single base substitution G C upstream_gene_variant LUSC-KR 3 136579544 136579544 single base substitution T A upstream_gene_variant LUSC-KR 3 136583469 136583469 single base substitution G T intron_variant LUSC-KR 3 136585168 136585168 single base substitution G T intron_variant LUSC-KR 3 136585971 136585971 single base substitution T C intron_variant LUSC-KR 3 136589510 136589510 single base substitution A T intron_variant LUSC-KR 3 136593373 136593373 single base substitution A G intron_variant LUSC-KR 3 136593478 136593478 single base substitution C G intron_variant LUSC-KR 3 136594924 136594924 single base substitution G A intron_variant LUSC-KR 3 136595193 136595193 single base substitution C T intron_variant LUSC-KR 3 136597219 136597219 single base substitution C G intron_variant LUSC-KR 3 136601475 136601475 single base substitution A C intron_variant LUSC-KR 3 136603056 136603056 single base substitution G A intron_variant LUSC-KR 3 136603368 136603368 single base substitution C T intron_variant LUSC-KR 3 136606804 136606804 single base substitution G A intron_variant LUSC-KR 3 136607915 136607915 single base substitution T C intron_variant LUSC-KR 3 136607915 136607915 single base substitution T C splice_region_variant LUSC-KR 3 136610654 136610654 single base substitution C T intron_variant LUSC-KR 3 136612022 136612022 single base substitution A G intron_variant LUSC-KR 3 136620205 136620205 single base substitution C T intron_variant LUSC-KR 3 136620422 136620422 single base substitution G A intron_variant LUSC-KR 3 136622466 136622466 single base substitution C T intron_variant LUSC-KR 3 136623742 136623742 single base substitution C T intron_variant LUSC-KR 3 136632073 136632073 single base substitution G T intron_variant LUSC-KR 3 136632550 136632550 single base substitution G A intron_variant LUSC-KR 3 136632574 136632574 single base substitution G T intron_variant LUSC-KR 3 136633676 136633676 single base substitution G T intron_variant LUSC-KR 3 136633691 136633691 single base substitution G T intron_variant LUSC-KR 3 136635011 136635011 single base substitution A T intron_variant LUSC-KR 3 136640995 136640995 single base substitution C T intron_variant LUSC-KR 3 136641819 136641819 single base substitution C T intron_variant LUSC-KR 3 136642075 136642075 single base substitution A C intron_variant LUSC-KR 3 136642075 136642075 single base substitution A C upstream_gene_variant LUSC-KR 3 136646065 136646065 single base substitution C G intron_variant LUSC-KR 3 136646065 136646065 single base substitution C G upstream_gene_variant LUSC-KR 3 136651651 136651651 single base substitution A T downstream_gene_variant LUSC-KR 3 136651651 136651651 single base substitution A T intron_variant LUSC-KR 3 136652507 136652507 single base substitution C G downstream_gene_variant LUSC-KR 3 136652507 136652507 single base substitution C G intron_variant LUSC-KR 3 136653778 136653778 single base substitution G T intron_variant LUSC-KR 3 136669279 136669279 single base substitution G T downstream_gene_variant LUSC-KR 3 136671693 136671693 single base substitution A G downstream_gene_variant LUSC-US 3 136646961 136646961 single base substitution C T exon_variant LUSC-US 3 136646961 136646961 single base substitution C T stop_gained R27* 79C>T LUSC-US 3 136646961 136646961 single base substitution C T stop_gained R40* 118C>T LUSC-US 3 136646961 136646961 single base substitution C T upstream_gene_variant LUSC-US 3 136664723 136664723 single base substitution G T downstream_gene_variant LUSC-US 3 136664723 136664723 single base substitution G T exon_variant LUSC-US 3 136664723 136664723 single base substitution G T intron_variant LUSC-US 3 136664723 136664723 single base substitution G T synonymous_variant L111L 333G>T LUSC-US 3 136664723 136664723 single base substitution G T synonymous_variant L175L 525G>T LUSC-US 3 136665037 136665037 single base substitution A G downstream_gene_variant LUSC-US 3 136665037 136665037 single base substitution A G exon_variant LUSC-US 3 136665037 136665037 single base substitution A G missense_variant I155V 463A>G LUSC-US 3 136665037 136665037 single base substitution A G missense_variant N134S 401A>G LUSC-US 3 136665037 136665037 single base substitution A G missense_variant N216S 647A>G LUSC-US 3 136665037 136665037 single base substitution A G missense_variant N280S 839A>G LUSC-US 3 136665037 136665037 single base substitution A G missense_variant N83S 248A>G MALY-DE 3 136581923 136581923 single base substitution C T intron_variant MALY-DE 3 136582176 136582176 single base substitution C G intron_variant MALY-DE 3 136592313 136592313 single base substitution C T intron_variant MALY-DE 3 136602104 136602104 single base substitution C T intron_variant MALY-DE 3 136608871 136608871 single base substitution G C intron_variant MALY-DE 3 136612329 136612329 single base substitution A G intron_variant MALY-DE 3 136619311 136619311 single base substitution A G intron_variant MALY-DE 3 136623774 136623774 single base substitution T C intron_variant MALY-DE 3 136631435 136631435 single base substitution G A intron_variant MALY-DE 3 136634425 136634425 single base substitution C G intron_variant MALY-DE 3 136640628 136640628 single base substitution T G intron_variant MALY-DE 3 136640765 136640765 single base substitution A G intron_variant MALY-DE 3 136641177 136641177 single base substitution G C intron_variant MALY-DE 3 136646391 136646391 single base substitution T G intron_variant MALY-DE 3 136646391 136646391 single base substitution T G upstream_gene_variant MALY-DE 3 136646470 136646470 single base substitution T C intron_variant MALY-DE 3 136646470 136646470 single base substitution T C upstream_gene_variant MALY-DE 3 136652422 136652422 single base substitution A C downstream_gene_variant MALY-DE 3 136652422 136652422 single base substitution A C intron_variant MALY-DE 3 136652488 136652488 single base substitution A G downstream_gene_variant MALY-DE 3 136652488 136652488 single base substitution A G intron_variant MALY-DE 3 136653023 136653023 single base substitution A C intron_variant MALY-DE 3 136658911 136658911 single base substitution C T intron_variant MALY-DE 3 136661401 136661401 single base substitution T A intron_variant MALY-DE 3 136661401 136661401 single base substitution T A upstream_gene_variant MALY-DE 3 136667917 136667917 single base substitution T G 3_prime_UTR_variant MALY-DE 3 136667917 136667917 single base substitution T G downstream_gene_variant MELA-AU 3 136576053 136576053 single base substitution G A upstream_gene_variant MELA-AU 3 136576444 136576444 single base substitution C T upstream_gene_variant MELA-AU 3 136576550 136576550 single base substitution A C upstream_gene_variant MELA-AU 3 136576677 136576677 single base substitution G A upstream_gene_variant MELA-AU 3 136576731 136576732 multiple base substitution (>=2bp and <=200bp) CC TT upstream_gene_variant MELA-AU 3 136576759 136576759 single base substitution G A upstream_gene_variant MELA-AU 3 136577093 136577093 single base substitution T A upstream_gene_variant MELA-AU 3 136577975 136577975 single base substitution G A upstream_gene_variant MELA-AU 3 136578792 136578792 single base substitution G A upstream_gene_variant MELA-AU 3 136579603 136579603 single base substitution G A upstream_gene_variant MELA-AU 3 136579875 136579875 single base substitution G A upstream_gene_variant MELA-AU 3 136580973 136580973 single base substitution G A upstream_gene_variant MELA-AU 3 136581644 136581644 single base substitution G C intron_variant MELA-AU 3 136582021 136582022 multiple base substitution (>=2bp and <=200bp) CC TT intron_variant MELA-AU 3 136585241 136585241 single base substitution C T intron_variant MELA-AU 3 136585299 136585299 single base substitution G A intron_variant MELA-AU 3 136585641 136585641 single base substitution G A intron_variant MELA-AU 3 136585943 136585943 single base substitution T C intron_variant MELA-AU 3 136586105 136586105 single base substitution C T intron_variant MELA-AU 3 136586106 136586106 insertion of <=200bp - TT intron_variant MELA-AU 3 136586336 136586336 single base substitution C T 5_prime_UTR_variant MELA-AU 3 136586336 136586336 single base substitution C T intron_variant MELA-AU 3 136587053 136587053 single base substitution C T intron_variant MELA-AU 3 136587251 136587251 single base substitution C T intron_variant MELA-AU 3 136587641 136587641 single base substitution C T intron_variant MELA-AU 3 136587732 136587732 single base substitution C T intron_variant MELA-AU 3 136587827 136587827 single base substitution C T intron_variant MELA-AU 3 136587858 136587858 single base substitution G A intron_variant MELA-AU 3 136588661 136588661 single base substitution T C intron_variant MELA-AU 3 136588892 136588892 single base substitution T A intron_variant MELA-AU 3 136588904 136588904 single base substitution C T intron_variant MELA-AU 3 136588944 136588944 single base substitution G A intron_variant MELA-AU 3 136589766 136589766 single base substitution C T intron_variant MELA-AU 3 136589889 136589889 single base substitution C T intron_variant MELA-AU 3 136590111 136590111 single base substitution G A intron_variant MELA-AU 3 136590539 136590539 single base substitution C T intron_variant MELA-AU 3 136590682 136590682 single base substitution G A intron_variant MELA-AU 3 136595774 136595774 single base substitution T C intron_variant MELA-AU 3 136595810 136595810 single base substitution G A intron_variant MELA-AU 3 136596042 136596042 single base substitution G T intron_variant MELA-AU 3 136596356 136596356 single base substitution G A intron_variant MELA-AU 3 136596377 136596377 single base substitution A G intron_variant MELA-AU 3 136597448 136597448 single base substitution C T intron_variant MELA-AU 3 136597633 136597633 single base substitution G T intron_variant MELA-AU 3 136598106 136598106 single base substitution C T intron_variant MELA-AU 3 136598728 136598728 single base substitution A G intron_variant MELA-AU 3 136599009 136599009 single base substitution C T intron_variant MELA-AU 3 136599074 136599074 single base substitution C T intron_variant MELA-AU 3 136599081 136599081 single base substitution C T intron_variant MELA-AU 3 136600334 136600334 single base substitution G A intron_variant MELA-AU 3 136602201 136602201 single base substitution G A intron_variant MELA-AU 3 136603316 136603316 single base substitution C T intron_variant MELA-AU 3 136603973 136603973 single base substitution T C intron_variant MELA-AU 3 136604109 136604109 single base substitution C T intron_variant MELA-AU 3 136604346 136604346 single base substitution C T intron_variant MELA-AU 3 136604745 136604745 single base substitution C T intron_variant MELA-AU 3 136605908 136605908 single base substitution A G intron_variant MELA-AU 3 136606012 136606012 single base substitution C T intron_variant MELA-AU 3 136606041 136606041 single base substitution C T intron_variant MELA-AU 3 136606513 136606513 single base substitution C T intron_variant MELA-AU 3 136606614 136606614 single base substitution C T intron_variant MELA-AU 3 136606771 136606771 single base substitution T A intron_variant MELA-AU 3 136608186 136608186 single base substitution C T intron_variant MELA-AU 3 136608589 136608589 single base substitution C T intron_variant MELA-AU 3 136608665 136608665 single base substitution T G intron_variant MELA-AU 3 136609092 136609093 multiple base substitution (>=2bp and <=200bp) CC TT intron_variant MELA-AU 3 136609275 136609275 single base substitution C T intron_variant MELA-AU 3 136609287 136609287 single base substitution C T intron_variant MELA-AU 3 136609822 136609822 single base substitution C T intron_variant MELA-AU 3 136610067 136610067 single base substitution C T intron_variant MELA-AU 3 136610180 136610180 single base substitution T C intron_variant MELA-AU 3 136610290 136610290 single base substitution T A intron_variant MELA-AU 3 136610489 136610489 single base substitution C T intron_variant MELA-AU 3 136610661 136610661 single base substitution T C intron_variant MELA-AU 3 136611299 136611300 multiple base substitution (>=2bp and <=200bp) GG AC intron_variant MELA-AU 3 136611928 136611928 single base substitution C T intron_variant MELA-AU 3 136612288 136612288 single base substitution C T intron_variant MELA-AU 3 136612840 136612840 single base substitution C T intron_variant MELA-AU 3 136613035 136613035 single base substitution T C intron_variant MELA-AU 3 136614264 136614264 single base substitution C T intron_variant MELA-AU 3 136615000 136615000 single base substitution C T intron_variant MELA-AU 3 136615842 136615842 single base substitution T C intron_variant MELA-AU 3 136618360 136618360 single base substitution C G intron_variant MELA-AU 3 136618923 136618923 single base substitution C T intron_variant MELA-AU 3 136618998 136618998 single base substitution A T intron_variant MELA-AU 3 136619352 136619352 single base substitution T C intron_variant MELA-AU 3 136619861 136619861 single base substitution C T intron_variant MELA-AU 3 136620127 136620127 single base substitution T C intron_variant MELA-AU 3 136620216 136620216 single base substitution T A intron_variant MELA-AU 3 136620485 136620485 single base substitution C T intron_variant MELA-AU 3 136620759 136620759 single base substitution G C intron_variant MELA-AU 3 136620960 136620960 single base substitution C T intron_variant MELA-AU 3 136621040 136621040 single base substitution T G intron_variant MELA-AU 3 136621288 136621288 single base substitution C T intron_variant MELA-AU 3 136621587 136621587 single base substitution C T intron_variant MELA-AU 3 136621588 136621588 single base substitution C T intron_variant MELA-AU 3 136621617 136621617 single base substitution C T intron_variant MELA-AU 3 136621630 136621630 single base substitution G A intron_variant MELA-AU 3 136622075 136622076 multiple base substitution (>=2bp and <=200bp) CT TA intron_variant MELA-AU 3 136622113 136622113 single base substitution C T intron_variant MELA-AU 3 136622351 136622351 single base substitution C T intron_variant MELA-AU 3 136622456 136622456 single base substitution G A intron_variant MELA-AU 3 136622886 136622886 single base substitution C T intron_variant MELA-AU 3 136622912 136622912 single base substitution T A intron_variant MELA-AU 3 136622984 136622984 single base substitution C T intron_variant MELA-AU 3 136623384 136623384 single base substitution C T intron_variant MELA-AU 3 136624218 136624218 single base substitution C A intron_variant MELA-AU 3 136624665 136624665 single base substitution C G intron_variant MELA-AU 3 136624830 136624830 single base substitution C T intron_variant MELA-AU 3 136625205 136625205 single base substitution G A intron_variant MELA-AU 3 136626192 136626192 single base substitution C T intron_variant MELA-AU 3 136626281 136626281 single base substitution T C intron_variant MELA-AU 3 136626303 136626303 single base substitution T A intron_variant MELA-AU 3 136627071 136627071 single base substitution C T intron_variant MELA-AU 3 136627364 136627364 single base substitution A G intron_variant MELA-AU 3 136627773 136627773 single base substitution G A intron_variant MELA-AU 3 136628559 136628559 single base substitution C T intron_variant MELA-AU 3 136628753 136628753 single base substitution C T intron_variant MELA-AU 3 136628911 136628911 single base substitution G A intron_variant MELA-AU 3 136630621 136630621 single base substitution C T intron_variant MELA-AU 3 136630852 136630852 single base substitution C T intron_variant MELA-AU 3 136631114 136631114 single base substitution C T intron_variant MELA-AU 3 136631130 136631130 single base substitution A G intron_variant MELA-AU 3 136631829 136631829 single base substitution T C intron_variant MELA-AU 3 136632463 136632463 single base substitution C T intron_variant MELA-AU 3 136632873 136632873 single base substitution C T intron_variant MELA-AU 3 136633204 136633205 multiple base substitution (>=2bp and <=200bp) CC TG intron_variant MELA-AU 3 136633440 136633440 single base substitution C T intron_variant MELA-AU 3 136634039 136634039 single base substitution C T intron_variant MELA-AU 3 136634098 136634098 single base substitution C T intron_variant MELA-AU 3 136635007 136635007 single base substitution C T intron_variant MELA-AU 3 136635794 136635794 single base substitution A T intron_variant MELA-AU 3 136636113 136636113 single base substitution A G intron_variant MELA-AU 3 136636114 136636114 single base substitution T A intron_variant MELA-AU 3 136636243 136636243 single base substitution C T intron_variant MELA-AU 3 136636716 136636716 single base substitution C T intron_variant MELA-AU 3 136636730 136636730 single base substitution C T intron_variant MELA-AU 3 136637388 136637388 single base substitution G C intron_variant MELA-AU 3 136637487 136637487 single base substitution C T intron_variant MELA-AU 3 136638086 136638086 single base substitution G T intron_variant MELA-AU 3 136639126 136639126 single base substitution C T intron_variant MELA-AU 3 136640178 136640178 single base substitution C T intron_variant MELA-AU 3 136641065 136641065 single base substitution C T intron_variant MELA-AU 3 136641453 136641453 single base substitution G A intron_variant MELA-AU 3 136642033 136642033 single base substitution C T intron_variant MELA-AU 3 136642033 136642033 single base substitution C T upstream_gene_variant MELA-AU 3 136642205 136642205 single base substitution G T intron_variant MELA-AU 3 136642205 136642205 single base substitution G T upstream_gene_variant MELA-AU 3 136642320 136642320 single base substitution C T intron_variant MELA-AU 3 136642320 136642320 single base substitution C T upstream_gene_variant MELA-AU 3 136642969 136642969 single base substitution C T intron_variant MELA-AU 3 136642969 136642969 single base substitution C T upstream_gene_variant MELA-AU 3 136643693 136643693 single base substitution C T intron_variant MELA-AU 3 136643693 136643693 single base substitution C T upstream_gene_variant MELA-AU 3 136644082 136644082 single base substitution C T intron_variant MELA-AU 3 136644082 136644082 single base substitution C T upstream_gene_variant MELA-AU 3 136644868 136644868 single base substitution C T intron_variant MELA-AU 3 136644868 136644868 single base substitution C T upstream_gene_variant MELA-AU 3 136645050 136645050 single base substitution G A intron_variant MELA-AU 3 136645050 136645050 single base substitution G A upstream_gene_variant MELA-AU 3 136646385 136646385 single base substitution G A intron_variant MELA-AU 3 136646385 136646385 single base substitution G A upstream_gene_variant MELA-AU 3 136646395 136646395 single base substitution C T intron_variant MELA-AU 3 136646395 136646395 single base substitution C T upstream_gene_variant MELA-AU 3 136648384 136648384 single base substitution C T downstream_gene_variant MELA-AU 3 136648384 136648384 single base substitution C T intron_variant MELA-AU 3 136648384 136648384 single base substitution C T upstream_gene_variant MELA-AU 3 136648854 136648854 single base substitution T C downstream_gene_variant MELA-AU 3 136648854 136648854 single base substitution T C intron_variant MELA-AU 3 136648854 136648854 single base substitution T C upstream_gene_variant MELA-AU 3 136649844 136649844 single base substitution T A downstream_gene_variant MELA-AU 3 136649844 136649844 single base substitution T A intron_variant MELA-AU 3 136652037 136652037 single base substitution C G downstream_gene_variant MELA-AU 3 136652037 136652037 single base substitution C G intron_variant MELA-AU 3 136652770 136652770 single base substitution G C intron_variant MELA-AU 3 136652910 136652910 single base substitution C T intron_variant MELA-AU 3 136652993 136652993 single base substitution T C intron_variant MELA-AU 3 136653831 136653831 single base substitution C T intron_variant MELA-AU 3 136655077 136655077 single base substitution T C intron_variant MELA-AU 3 136655472 136655472 single base substitution C T intron_variant MELA-AU 3 136655473 136655473 single base substitution C T intron_variant MELA-AU 3 136655774 136655774 single base substitution C T intron_variant MELA-AU 3 136656126 136656126 single base substitution T A intron_variant MELA-AU 3 136656259 136656259 single base substitution C T intron_variant MELA-AU 3 136657206 136657206 single base substitution T A intron_variant MELA-AU 3 136657709 136657709 single base substitution A G intron_variant MELA-AU 3 136659071 136659071 single base substitution A C intron_variant MELA-AU 3 136659289 136659289 single base substitution C T intron_variant MELA-AU 3 136659768 136659768 single base substitution C T intron_variant MELA-AU 3 136659768 136659768 single base substitution C T upstream_gene_variant MELA-AU 3 136660387 136660387 single base substitution A G intron_variant MELA-AU 3 136660387 136660387 single base substitution A G upstream_gene_variant MELA-AU 3 136660406 136660406 single base substitution C T intron_variant MELA-AU 3 136660406 136660406 single base substitution C T upstream_gene_variant MELA-AU 3 136660508 136660508 single base substitution T G intron_variant MELA-AU 3 136660508 136660508 single base substitution T G upstream_gene_variant MELA-AU 3 136660605 136660605 single base substitution C T intron_variant MELA-AU 3 136660605 136660605 single base substitution C T upstream_gene_variant MELA-AU 3 136661380 136661380 single base substitution G C intron_variant MELA-AU 3 136661380 136661380 single base substitution G C upstream_gene_variant MELA-AU 3 136661518 136661518 single base substitution C T intron_variant MELA-AU 3 136661518 136661518 single base substitution C T upstream_gene_variant MELA-AU 3 136662378 136662378 single base substitution C T intron_variant MELA-AU 3 136662378 136662378 single base substitution C T upstream_gene_variant MELA-AU 3 136662703 136662703 single base substitution C T intron_variant MELA-AU 3 136662703 136662703 single base substitution C T upstream_gene_variant MELA-AU 3 136662970 136662970 single base substitution T C intron_variant MELA-AU 3 136662970 136662970 single base substitution T C upstream_gene_variant MELA-AU 3 136662994 136662994 single base substitution C T intron_variant MELA-AU 3 136662994 136662994 single base substitution C T upstream_gene_variant MELA-AU 3 136663130 136663130 single base substitution T C intron_variant MELA-AU 3 136663130 136663130 single base substitution T C upstream_gene_variant MELA-AU 3 136663605 136663605 single base substitution T A intron_variant MELA-AU 3 136663605 136663605 single base substitution T A upstream_gene_variant MELA-AU 3 136664790 136664791 multiple base substitution (>=2bp and <=200bp) CT TC downstream_gene_variant MELA-AU 3 136664790 136664791 multiple base substitution (>=2bp and <=200bp) CT TC exon_variant MELA-AU 3 136664790 136664791 multiple base substitution (>=2bp and <=200bp) CT TC intron_variant MELA-AU 3 136664790 136664791 multiple base substitution (>=2bp and <=200bp) CT TC missense_variant L134S 400CT>TC MELA-AU 3 136664790 136664791 multiple base substitution (>=2bp and <=200bp) CT TC missense_variant L198S 592CT>TC MELA-AU 3 136664941 136664941 single base substitution C T downstream_gene_variant MELA-AU 3 136664941 136664941 single base substitution C T exon_variant MELA-AU 3 136664941 136664941 single base substitution C T intron_variant MELA-AU 3 136664941 136664941 single base substitution C T missense_variant T184I 551C>T MELA-AU 3 136664941 136664941 single base substitution C T missense_variant T248I 743C>T MELA-AU 3 136665120 136665120 single base substitution C T downstream_gene_variant MELA-AU 3 136665120 136665120 single base substitution C T exon_variant MELA-AU 3 136665120 136665120 single base substitution C T missense_variant R111C 331C>T MELA-AU 3 136665120 136665120 single base substitution C T missense_variant R244C 730C>T MELA-AU 3 136665120 136665120 single base substitution C T missense_variant R308C 922C>T MELA-AU 3 136666723 136666723 single base substitution G A downstream_gene_variant MELA-AU 3 136666723 136666723 single base substitution G A intron_variant MELA-AU 3 136666922 136666922 single base substitution G A downstream_gene_variant MELA-AU 3 136666922 136666922 single base substitution G A intron_variant MELA-AU 3 136667043 136667043 single base substitution A G downstream_gene_variant MELA-AU 3 136667043 136667043 single base substitution A G intron_variant MELA-AU 3 136667275 136667275 single base substitution C T downstream_gene_variant MELA-AU 3 136667275 136667275 single base substitution C T missense_variant L308F 922C>T MELA-AU 3 136667275 136667275 single base substitution C T missense_variant L372F 1114C>T MELA-AU 3 136668074 136668074 single base substitution C T 3_prime_UTR_variant MELA-AU 3 136668074 136668074 single base substitution C T downstream_gene_variant MELA-AU 3 136669699 136669699 single base substitution A T downstream_gene_variant MELA-AU 3 136671625 136671626 multiple base substitution (>=2bp and <=200bp) CC TT downstream_gene_variant MELA-AU 3 136671818 136671818 single base substitution T C downstream_gene_variant MELA-AU 3 136672610 136672610 single base substitution C T downstream_gene_variant MELA-AU 3 136673043 136673043 single base substitution C T downstream_gene_variant MELA-AU 3 136673063 136673063 single base substitution G A downstream_gene_variant MELA-AU 3 136673369 136673369 single base substitution C T downstream_gene_variant MELA-AU 3 136673448 136673448 single base substitution C T downstream_gene_variant ORCA-IN 3 136635013 136635013 single base substitution G C intron_variant ORCA-IN 3 136635158 136635158 single base substitution C A intron_variant ORCA-IN 3 136663144 136663144 single base substitution A G intron_variant ORCA-IN 3 136663144 136663144 single base substitution A G upstream_gene_variant ORCA-IN 3 136668660 136668660 single base substitution A G 3_prime_UTR_variant ORCA-IN 3 136668660 136668660 single base substitution A G downstream_gene_variant OV-AU 3 136580551 136580551 single base substitution T A upstream_gene_variant OV-AU 3 136584771 136584771 single base substitution G A intron_variant OV-AU 3 136585971 136585971 single base substitution T C intron_variant OV-AU 3 136586067 136586067 single base substitution G A intron_variant OV-AU 3 136588570 136588570 single base substitution A G intron_variant OV-AU 3 136591648 136591648 single base substitution G A intron_variant OV-AU 3 136592386 136592386 single base substitution G T intron_variant OV-AU 3 136611183 136611183 single base substitution A T intron_variant OV-AU 3 136612168 136612168 single base substitution T A intron_variant OV-AU 3 136616157 136616157 single base substitution C T intron_variant OV-AU 3 136622878 136622878 single base substitution G A intron_variant OV-AU 3 136624649 136624649 single base substitution T A intron_variant OV-AU 3 136630386 136630386 single base substitution A T intron_variant OV-AU 3 136634330 136634330 single base substitution G A intron_variant OV-AU 3 136636202 136636202 single base substitution G T intron_variant OV-AU 3 136638158 136638158 single base substitution C T intron_variant OV-AU 3 136646221 136646221 single base substitution A G intron_variant OV-AU 3 136646221 136646221 single base substitution A G upstream_gene_variant OV-AU 3 136650991 136650991 single base substitution A C downstream_gene_variant OV-AU 3 136650991 136650991 single base substitution A C intron_variant OV-AU 3 136652791 136652791 single base substitution C T intron_variant OV-AU 3 136652885 136652885 single base substitution C T intron_variant OV-AU 3 136652998 136652998 single base substitution T G intron_variant OV-AU 3 136653562 136653562 single base substitution A T intron_variant OV-AU 3 136654593 136654593 single base substitution A C intron_variant OV-AU 3 136655913 136655913 single base substitution T A intron_variant OV-AU 3 136656833 136656833 single base substitution G C intron_variant OV-AU 3 136665765 136665765 single base substitution T A downstream_gene_variant OV-AU 3 136665765 136665765 single base substitution T A intron_variant OV-AU 3 136668323 136668323 single base substitution T G 3_prime_UTR_variant OV-AU 3 136668323 136668323 single base substitution T G downstream_gene_variant PACA-AU 3 136580397 136580397 insertion of <=200bp - G upstream_gene_variant PACA-AU 3 136581785 136581785 single base substitution T G intron_variant PACA-AU 3 136589675 136589675 single base substitution C G intron_variant PACA-AU 3 136589943 136589943 single base substitution T A intron_variant PACA-AU 3 136597343 136597343 single base substitution A T intron_variant PACA-AU 3 136600121 136600121 single base substitution G T intron_variant PACA-AU 3 136600612 136600612 single base substitution A T intron_variant PACA-AU 3 136605764 136605809 deletion of <=200bp CAACCTCCGCCTCCCAGGTTCAAGCGATTCTTATGCCTCAGCCTCC - intron_variant PACA-AU 3 136605846 136605846 single base substitution C T intron_variant PACA-AU 3 136606766 136606769 deletion of <=200bp TTTC - intron_variant PACA-AU 3 136609158 136609158 single base substitution G A intron_variant PACA-AU 3 136613907 136613907 single base substitution G T intron_variant PACA-AU 3 136616413 136616413 single base substitution T A intron_variant PACA-AU 3 136617298 136617298 single base substitution A G intron_variant PACA-AU 3 136622999 136622999 single base substitution A T intron_variant PACA-AU 3 136626979 136626979 single base substitution T C intron_variant PACA-AU 3 136629869 136629869 single base substitution C T intron_variant PACA-AU 3 136634863 136634863 single base substitution C T intron_variant PACA-AU 3 136634867 136634867 single base substitution C G intron_variant PACA-AU 3 136635047 136635047 single base substitution C A intron_variant PACA-AU 3 136638652 136638652 deletion of <=200bp T - intron_variant PACA-AU 3 136645329 136645329 single base substitution G A intron_variant PACA-AU 3 136645329 136645329 single base substitution G A upstream_gene_variant PACA-AU 3 136647289 136647289 single base substitution G C downstream_gene_variant PACA-AU 3 136647289 136647289 single base substitution G C exon_variant PACA-AU 3 136647289 136647289 single base substitution G C intron_variant PACA-AU 3 136647289 136647289 single base substitution G C upstream_gene_variant PACA-AU 3 136648426 136648426 single base substitution G T downstream_gene_variant PACA-AU 3 136648426 136648426 single base substitution G T intron_variant PACA-AU 3 136648426 136648426 single base substitution G T upstream_gene_variant PACA-AU 3 136648427 136648427 single base substitution G T downstream_gene_variant PACA-AU 3 136648427 136648427 single base substitution G T intron_variant PACA-AU 3 136648427 136648427 single base substitution G T upstream_gene_variant PACA-AU 3 136651321 136651321 single base substitution A G downstream_gene_variant PACA-AU 3 136651321 136651321 single base substitution A G intron_variant PACA-AU 3 136653439 136653439 single base substitution T C intron_variant PACA-AU 3 136657219 136657219 single base substitution G T intron_variant PACA-CA 3 136578006 136578006 single base substitution G A upstream_gene_variant PACA-CA 3 136579332 136579332 single base substitution C A upstream_gene_variant PACA-CA 3 136580620 136580620 single base substitution T A upstream_gene_variant PACA-CA 3 136580631 136580631 single base substitution T G upstream_gene_variant PACA-CA 3 136581858 136581858 single base substitution C T intron_variant PACA-CA 3 136586614 136586614 single base substitution G A intron_variant PACA-CA 3 136587453 136587453 single base substitution A G intron_variant PACA-CA 3 136588094 136588094 single base substitution A T intron_variant PACA-CA 3 136588163 136588163 single base substitution C T intron_variant PACA-CA 3 136589357 136589357 deletion of <=200bp T - intron_variant PACA-CA 3 136589943 136589943 single base substitution T A intron_variant PACA-CA 3 136590461 136590461 single base substitution C T intron_variant PACA-CA 3 136590670 136590670 single base substitution G A intron_variant PACA-CA 3 136596033 136596033 single base substitution A T intron_variant PACA-CA 3 136598092 136598092 single base substitution C T intron_variant PACA-CA 3 136598568 136598568 single base substitution T C intron_variant PACA-CA 3 136601039 136601039 insertion of <=200bp - T intron_variant PACA-CA 3 136603771 136603771 single base substitution C G intron_variant PACA-CA 3 136605755 136605755 single base substitution A G intron_variant PACA-CA 3 136605813 136605813 single base substitution G A intron_variant PACA-CA 3 136608827 136608827 single base substitution C T intron_variant PACA-CA 3 136610813 136610813 single base substitution C T intron_variant PACA-CA 3 136611390 136611390 single base substitution G A intron_variant PACA-CA 3 136612894 136612894 single base substitution C T intron_variant PACA-CA 3 136613834 136613834 single base substitution C T intron_variant PACA-CA 3 136615469 136615469 single base substitution C T intron_variant PACA-CA 3 136620164 136620164 single base substitution A T intron_variant PACA-CA 3 136621752 136621752 single base substitution T C intron_variant PACA-CA 3 136621823 136621823 single base substitution T A intron_variant PACA-CA 3 136624649 136624649 single base substitution T A intron_variant PACA-CA 3 136632521 136632521 insertion of <=200bp - T intron_variant PACA-CA 3 136632562 136632562 single base substitution G C intron_variant PACA-CA 3 136633595 136633595 single base substitution G A intron_variant PACA-CA 3 136641964 136641964 single base substitution C T intron_variant PACA-CA 3 136641964 136641964 single base substitution C T upstream_gene_variant PACA-CA 3 136642250 136642250 single base substitution T C intron_variant PACA-CA 3 136642250 136642250 single base substitution T C upstream_gene_variant PACA-CA 3 136644592 136644592 single base substitution A T intron_variant PACA-CA 3 136644592 136644592 single base substitution A T upstream_gene_variant PACA-CA 3 136646503 136646503 single base substitution A G intron_variant PACA-CA 3 136646503 136646503 single base substitution A G upstream_gene_variant PACA-CA 3 136648682 136648682 single base substitution T A downstream_gene_variant PACA-CA 3 136648682 136648682 single base substitution T A intron_variant PACA-CA 3 136648682 136648682 single base substitution T A upstream_gene_variant PACA-CA 3 136651501 136651501 single base substitution T G downstream_gene_variant PACA-CA 3 136651501 136651501 single base substitution T G intron_variant PACA-CA 3 136652714 136652714 deletion of <=200bp T - intron_variant PACA-CA 3 136653252 136653252 single base substitution C T intron_variant PACA-CA 3 136653285 136653285 single base substitution G A intron_variant PACA-CA 3 136653810 136653810 single base substitution C G intron_variant PACA-CA 3 136654539 136654539 single base substitution C G intron_variant PACA-CA 3 136655369 136655369 single base substitution G A intron_variant PACA-CA 3 136655647 136655647 single base substitution T G intron_variant PACA-CA 3 136655708 136655708 single base substitution G T intron_variant PACA-CA 3 136662815 136662815 single base substitution A C intron_variant PACA-CA 3 136662815 136662815 single base substitution A C upstream_gene_variant PACA-CA 3 136663181 136663181 single base substitution C T intron_variant PACA-CA 3 136663181 136663181 single base substitution C T upstream_gene_variant PACA-CA 3 136663965 136663965 single base substitution C T intron_variant PACA-CA 3 136663965 136663965 single base substitution C T upstream_gene_variant PACA-CA 3 136665136 136665136 single base substitution C T downstream_gene_variant PACA-CA 3 136665136 136665136 single base substitution C T missense_variant S116L 347C>T PACA-CA 3 136665136 136665136 single base substitution C T missense_variant S249L 746C>T PACA-CA 3 136665136 136665136 single base substitution C T missense_variant S313L 938C>T PACA-CA 3 136665136 136665136 single base substitution C T splice_region_variant PAEN-AU 3 136576721 136576724 deletion of <=200bp AAAC - upstream_gene_variant PAEN-AU 3 136579898 136579898 single base substitution C G upstream_gene_variant PAEN-AU 3 136586063 136586063 single base substitution T G intron_variant PAEN-AU 3 136586067 136586067 single base substitution G A intron_variant PAEN-AU 3 136614848 136614848 deletion of <=200bp G - intron_variant PAEN-AU 3 136635115 136635115 single base substitution G T intron_variant PAEN-AU 3 136642402 136642402 insertion of <=200bp - AAAT intron_variant PAEN-AU 3 136642402 136642402 insertion of <=200bp - AAAT upstream_gene_variant PAEN-IT 3 136618161 136618161 single base substitution A G intron_variant PAEN-IT 3 136620274 136620274 single base substitution A G intron_variant PAEN-IT 3 136626777 136626777 single base substitution G T intron_variant PBCA-DE 3 136587088 136587088 single base substitution A T intron_variant PBCA-DE 3 136606377 136606377 single base substitution C T intron_variant PBCA-DE 3 136629715 136629715 single base substitution G A intron_variant PBCA-DE 3 136634819 136634819 single base substitution C T intron_variant PBCA-DE 3 136638559 136638559 single base substitution G A intron_variant PBCA-DE 3 136640386 136640386 single base substitution C A intron_variant PBCA-DE 3 136641948 136641949 deletion of <=200bp TG - intron_variant PBCA-DE 3 136641948 136641949 deletion of <=200bp TG - upstream_gene_variant PBCA-DE 3 136655089 136655089 single base substitution G T intron_variant PBCA-DE 3 136656013 136656013 single base substitution T G intron_variant PBCA-DE 3 136662038 136662038 single base substitution A G intron_variant PBCA-DE 3 136662038 136662038 single base substitution A G upstream_gene_variant PBCA-DE 3 136665350 136665350 single base substitution G A downstream_gene_variant PBCA-DE 3 136665350 136665350 single base substitution G A intron_variant PBCA-DE 3 136667124 136667124 single base substitution A G downstream_gene_variant PBCA-DE 3 136667124 136667124 single base substitution A G synonymous_variant L124L 372A>G PBCA-DE 3 136667124 136667124 single base substitution A G synonymous_variant L257L 771A>G PBCA-DE 3 136667124 136667124 single base substitution A G synonymous_variant L321L 963A>G PBCA-DE 3 136672809 136672809 single base substitution G A downstream_gene_variant PRAD-CA 3 136603573 136603573 single base substitution C T intron_variant PRAD-CA 3 136608569 136608569 single base substitution A G intron_variant PRAD-CA 3 136610475 136610475 single base substitution T C intron_variant PRAD-CA 3 136628433 136628433 single base substitution T A intron_variant PRAD-CA 3 136640445 136640445 single base substitution G T intron_variant PRAD-UK 3 136582792 136582823 multiple base substitution (>=2bp and <=200bp) AAGTAGCCGGGCGTGGTGGCGGGCGCCTATAG ATTATCCGGGCGTGGTGGCACGCACCTGTAA intron_variant PRAD-UK 3 136585218 136585218 single base substitution C T intron_variant PRAD-UK 3 136585626 136585626 single base substitution T C intron_variant PRAD-UK 3 136588940 136588940 single base substitution T C intron_variant PRAD-UK 3 136594420 136594420 single base substitution G T intron_variant PRAD-UK 3 136598378 136598378 single base substitution A T intron_variant PRAD-UK 3 136613517 136613517 single base substitution C T intron_variant PRAD-UK 3 136616225 136616225 single base substitution C A intron_variant PRAD-UK 3 136635084 136635084 single base substitution A C intron_variant PRAD-UK 3 136640752 136640752 single base substitution A T intron_variant PRAD-UK 3 136667013 136667013 single base substitution C G downstream_gene_variant PRAD-UK 3 136667013 136667013 single base substitution C G intron_variant RECA-EU 3 136583514 136583514 single base substitution A T intron_variant RECA-EU 3 136603728 136603728 single base substitution A T intron_variant RECA-EU 3 136608255 136608255 single base substitution G A intron_variant RECA-EU 3 136612033 136612033 single base substitution T C intron_variant RECA-EU 3 136629217 136629217 single base substitution T A intron_variant RECA-EU 3 136638965 136638965 single base substitution A G intron_variant RECA-EU 3 136639059 136639059 single base substitution T A intron_variant RECA-EU 3 136639184 136639184 single base substitution G C intron_variant RECA-EU 3 136650975 136650975 single base substitution A G downstream_gene_variant RECA-EU 3 136650975 136650975 single base substitution A G intron_variant RECA-EU 3 136653899 136653899 single base substitution A G intron_variant RECA-EU 3 136655761 136655761 single base substitution T C intron_variant RECA-EU 3 136663705 136663705 single base substitution C T intron_variant RECA-EU 3 136663705 136663705 single base substitution C T upstream_gene_variant SKCA-BR 3 136576449 136576467 deletion of <=200bp CAAACATCACAGTGTAATG - upstream_gene_variant SKCA-BR 3 136577443 136577443 single base substitution C T upstream_gene_variant SKCA-BR 3 136577729 136577729 single base substitution G T upstream_gene_variant SKCA-BR 3 136582674 136582674 single base substitution T G intron_variant SKCA-BR 3 136583326 136583326 insertion of <=200bp - TCA intron_variant SKCA-BR 3 136584239 136584239 single base substitution T C intron_variant SKCA-BR 3 136585135 136585135 single base substitution C T intron_variant SKCA-BR 3 136585490 136585490 single base substitution C T intron_variant SKCA-BR 3 136585943 136585979 deletion of <=200bp TTTCTTTCTTTCTTTCTTTGTTTCTTTCTTTCCTTCC - intron_variant SKCA-BR 3 136585951 136585979 deletion of <=200bp TTTCTTTCTTTGTTTCTTTCTTTCCTTCC - intron_variant SKCA-BR 3 136586008 136586022 deletion of <=200bp TTCCTTCCTTCCTTC - intron_variant SKCA-BR 3 136586027 136586030 deletion of <=200bp TTTC - intron_variant SKCA-BR 3 136586763 136586764 deletion of <=200bp AT - intron_variant SKCA-BR 3 136586933 136586933 single base substitution A G intron_variant SKCA-BR 3 136588893 136588893 single base substitution A T intron_variant SKCA-BR 3 136598848 136598848 single base substitution T C intron_variant SKCA-BR 3 136602277 136602277 single base substitution C T intron_variant SKCA-BR 3 136603663 136603663 single base substitution A G intron_variant SKCA-BR 3 136605659 136605662 deletion of <=200bp CTTT - intron_variant SKCA-BR 3 136612033 136612033 single base substitution T C intron_variant SKCA-BR 3 136612845 136612845 single base substitution T A intron_variant SKCA-BR 3 136623455 136623455 single base substitution G A intron_variant SKCA-BR 3 136625339 136625339 single base substitution C G intron_variant SKCA-BR 3 136626230 136626230 single base substitution A T intron_variant SKCA-BR 3 136626836 136626836 single base substitution C T intron_variant SKCA-BR 3 136627955 136627955 single base substitution G C intron_variant SKCA-BR 3 136631275 136631275 single base substitution C T intron_variant SKCA-BR 3 136639770 136639770 single base substitution C T intron_variant SKCA-BR 3 136642417 136642417 single base substitution T G intron_variant SKCA-BR 3 136642417 136642417 single base substitution T G upstream_gene_variant SKCA-BR 3 136645360 136645360 single base substitution A C intron_variant SKCA-BR 3 136645360 136645360 single base substitution A C upstream_gene_variant SKCA-BR 3 136645855 136645855 single base substitution C G intron_variant SKCA-BR 3 136645855 136645855 single base substitution C G upstream_gene_variant SKCA-BR 3 136649115 136649115 single base substitution C T downstream_gene_variant SKCA-BR 3 136649115 136649115 single base substitution C T intron_variant SKCA-BR 3 136649115 136649115 single base substitution C T upstream_gene_variant SKCA-BR 3 136650727 136650727 single base substitution C G downstream_gene_variant SKCA-BR 3 136650727 136650727 single base substitution C G intron_variant SKCA-BR 3 136652004 136652004 single base substitution C T downstream_gene_variant SKCA-BR 3 136652004 136652004 single base substitution C T intron_variant SKCA-BR 3 136656070 136656070 single base substitution C T intron_variant SKCA-BR 3 136656257 136656257 single base substitution T G intron_variant SKCA-BR 3 136659948 136659952 deletion of <=200bp ATTTC - intron_variant SKCA-BR 3 136659948 136659952 deletion of <=200bp ATTTC - upstream_gene_variant SKCA-BR 3 136662952 136662953 deletion of <=200bp AC - intron_variant SKCA-BR 3 136662952 136662953 deletion of <=200bp AC - upstream_gene_variant SKCA-BR 3 136662953 136662955 deletion of <=200bp CCT - intron_variant SKCA-BR 3 136662953 136662955 deletion of <=200bp CCT - upstream_gene_variant SKCA-BR 3 136664526 136664526 single base substitution C T missense_variant P110S 328C>T SKCA-BR 3 136664526 136664526 single base substitution C T missense_variant P46S 136C>T SKCA-BR 3 136664526 136664526 single base substitution C T missense_variant P97S 289C>T SKCA-BR 3 136664526 136664526 single base substitution C T upstream_gene_variant SKCA-BR 3 136665476 136665476 single base substitution G A downstream_gene_variant SKCA-BR 3 136665476 136665476 single base substitution G A intron_variant SKCA-BR 3 136666578 136666578 single base substitution C T downstream_gene_variant SKCA-BR 3 136666578 136666578 single base substitution C T intron_variant SKCA-BR 3 136668458 136668458 single base substitution T A 3_prime_UTR_variant SKCA-BR 3 136668458 136668458 single base substitution T A downstream_gene_variant SKCA-BR 3 136672696 136672696 single base substitution G A downstream_gene_variant SKCA-BR 3 136673023 136673024 deletion of <=200bp TA - downstream_gene_variant SKCM-US 3 136664568 136664568 single base substitution G T downstream_gene_variant SKCM-US 3 136664568 136664568 single base substitution G T exon_variant SKCM-US 3 136664568 136664568 single base substitution G T stop_gained E111* 331G>T SKCM-US 3 136664568 136664568 single base substitution G T stop_gained E124* 370G>T SKCM-US 3 136664568 136664568 single base substitution G T stop_gained E60* 178G>T SKCM-US 3 136665000 136665000 single base substitution T G downstream_gene_variant SKCM-US 3 136665000 136665000 single base substitution T G exon_variant SKCM-US 3 136665000 136665000 single base substitution T G missense_variant I142M 426T>G SKCM-US 3 136665000 136665000 single base substitution T G missense_variant Y122D 364T>G SKCM-US 3 136665000 136665000 single base substitution T G missense_variant Y204D 610T>G SKCM-US 3 136665000 136665000 single base substitution T G missense_variant Y268D 802T>G SKCM-US 3 136665000 136665000 single base substitution T G missense_variant Y71D 211T>G STAD-US 3 136646968 136646968 single base substitution G A exon_variant STAD-US 3 136646968 136646968 single base substitution G A missense_variant R29Q 86G>A STAD-US 3 136646968 136646968 single base substitution G A missense_variant R42Q 125G>A STAD-US 3 136646968 136646968 single base substitution G A upstream_gene_variant STAD-US 3 136664467 136664467 single base substitution C T missense_variant A26V 77C>T STAD-US 3 136664467 136664467 single base substitution C T missense_variant A77V 230C>T STAD-US 3 136664467 136664467 single base substitution C T missense_variant A90V 269C>T STAD-US 3 136664467 136664467 single base substitution C T upstream_gene_variant STAD-US 3 136664679 136664679 single base substitution A G downstream_gene_variant STAD-US 3 136664679 136664679 single base substitution A G exon_variant STAD-US 3 136664679 136664679 single base substitution A G intron_variant STAD-US 3 136664679 136664679 single base substitution A G missense_variant T161A 481A>G STAD-US 3 136664679 136664679 single base substitution A G missense_variant T97A 289A>G STAD-US 3 136664754 136664754 single base substitution C T downstream_gene_variant STAD-US 3 136664754 136664754 single base substitution C T exon_variant STAD-US 3 136664754 136664754 single base substitution C T intron_variant STAD-US 3 136664754 136664754 single base substitution C T synonymous_variant L122L 364C>T STAD-US 3 136664754 136664754 single base substitution C T synonymous_variant L186L 556C>T STAD-US 3 136664858 136664858 single base substitution T G downstream_gene_variant STAD-US 3 136664858 136664858 single base substitution T G exon_variant STAD-US 3 136664858 136664858 single base substitution T G intron_variant STAD-US 3 136664858 136664858 single base substitution T G missense_variant I156M 468T>G STAD-US 3 136664858 136664858 single base substitution T G missense_variant I220M 660T>G STAD-US 3 136664893 136664893 single base substitution G A downstream_gene_variant STAD-US 3 136664893 136664893 single base substitution G A exon_variant STAD-US 3 136664893 136664893 single base substitution G A intron_variant STAD-US 3 136664893 136664893 single base substitution G A missense_variant C168Y 503G>A STAD-US 3 136664893 136664893 single base substitution G A missense_variant C232Y 695G>A STAD-US 3 136665004 136665004 single base substitution T C downstream_gene_variant STAD-US 3 136665004 136665004 single base substitution T C exon_variant STAD-US 3 136665004 136665004 single base substitution T C missense_variant I123T 368T>C STAD-US 3 136665004 136665004 single base substitution T C missense_variant I205T 614T>C STAD-US 3 136665004 136665004 single base substitution T C missense_variant I269T 806T>C STAD-US 3 136665004 136665004 single base substitution T C missense_variant I72T 215T>C STAD-US 3 136665004 136665004 single base substitution T C synonymous_variant L144L 430T>C STAD-US 3 136665098 136665098 single base substitution A G downstream_gene_variant STAD-US 3 136665098 136665098 single base substitution A G exon_variant STAD-US 3 136665098 136665098 single base substitution A G synonymous_variant G103G 309A>G STAD-US 3 136665098 136665098 single base substitution A G synonymous_variant G236G 708A>G STAD-US 3 136665098 136665098 single base substitution A G synonymous_variant G300G 900A>G THCA-SA 3 136667405 136667405 single base substitution T C 3_prime_UTR_variant THCA-SA 3 136667405 136667405 single base substitution T C downstream_gene_variant THCA-US 3 136646925 136646925 single base substitution A G exon_variant THCA-US 3 136646925 136646925 single base substitution A G missense_variant R15G 43A>G THCA-US 3 136646925 136646925 single base substitution A G missense_variant R28G 82A>G THCA-US 3 136646925 136646925 single base substitution A G upstream_gene_variant THCA-US 3 136647064 136647064 single base substitution C T exon_variant THCA-US 3 136647064 136647064 single base substitution C T missense_variant T61I 182C>T THCA-US 3 136647064 136647064 single base substitution C T missense_variant T74I 221C>T THCA-US 3 136647064 136647064 single base substitution C T upstream_gene_variant UCEC-US 3 136646968 136646968 single base substitution G A exon_variant UCEC-US 3 136646968 136646968 single base substitution G A missense_variant R29Q 86G>A UCEC-US 3 136646968 136646968 single base substitution G A missense_variant R42Q 125G>A UCEC-US 3 136646968 136646968 single base substitution G A upstream_gene_variant UCEC-US 3 136664466 136664466 single base substitution G A missense_variant A26T 76G>A UCEC-US 3 136664466 136664466 single base substitution G A missense_variant A77T 229G>A UCEC-US 3 136664466 136664466 single base substitution G A missense_variant A90T 268G>A UCEC-US 3 136664466 136664466 single base substitution G A upstream_gene_variant UCEC-US 3 136664729 136664729 single base substitution G T downstream_gene_variant UCEC-US 3 136664729 136664729 single base substitution G T exon_variant UCEC-US 3 136664729 136664729 single base substitution G T intron_variant UCEC-US 3 136664729 136664729 single base substitution G T missense_variant E113D 339G>T UCEC-US 3 136664729 136664729 single base substitution G T missense_variant E177D 531G>T UCEC-US 3 136665108 136665108 single base substitution G T downstream_gene_variant UCEC-US 3 136665108 136665108 single base substitution G T exon_variant UCEC-US 3 136665108 136665108 single base substitution G T missense_variant D107Y 319G>T UCEC-US 3 136665108 136665108 single base substitution G T missense_variant D240Y 718G>T UCEC-US 3 136665108 136665108 single base substitution G T missense_variant D304Y 910G>T

Mutation - COSMIC Sample Name Mutation ID Mutation CDS Mutation AA Mutation Description Mutation Genome Position Mutation Strand YUGASP COSM1693499 c.791C>T p.P264L Substitution - Missense 3:136946147-136946147 + LPJ108 COSM1316244 c.409G>T p.E137* Substitution - Nonsense 3:136945765-136945765 + HT115 COSM3123490 c.149T>C p.F50S Substitution - Missense 3:136928150-136928150 + HCC2998 COSM3123501 c.402C>T p.I134I Substitution - coding silent 3:136945758-136945758 + TCGA-AP-A059-01 COSM1038931 c.910G>T p.D304Y Substitution - Missense 3:136946266-136946266 + TCGA-FK-A3S3-01 COSM3373030 c.82A>G p.R28G Substitution - Missense 3:136928083-136928083 + TCGA-HU-A4GT-01 COSM4113874 c.556C>T p.L186L Substitution - coding silent 3:136945912-136945912 + LUAD-NYU287 COSM373489 c.358G>A p.E120K Substitution - Missense 3:136945714-136945714 + TCGA-BS-A0TC-01 COSM173716 c.531G>T p.E177D Substitution - Missense 3:136945887-136945887 + TCGA-F1-6177-01 COSM4113872 c.269C>T p.A90V Substitution - Missense 3:136945625-136945625 + TCGA-AP-A056-01 COSM1038929 c.125G>A p.R42Q Substitution - Missense 3:136928126-136928126 + TCGA-BR-7703-01 COSM4113873 c.481A>G p.T161A Substitution - Missense 3:136945837-136945837 + sysucc-311T COSM5465725 c.220A>G p.T74A Substitution - Missense 3:136928221-136928221 + TCGA-DS-A0VN-01 COSM460909 c.256G>A p.V86M Substitution - Missense 3:136945612-136945612 + LUAD-S01478 COSM399937 c.381G>C p.L127F Substitution - Missense 3:136945737-136945737 + TCGA-D3-A51G-06 COSM3587884 c.370G>T p.E124* Substitution - Nonsense 3:136945726-136945726 + sysucc-1450T COSM5480265 c.227-8T>A p.? Unknown 3:136945575-136945575 + TCGA-A8-A0A6-01 COSM3846336 c.398T>G p.V133G Substitution - Missense 3:136945754-136945754 + TCGA-BR-8680-01 COSM1038929 c.125G>A p.R42Q Substitution - Missense 3:136928126-136928126 + Pa37X COSM84829 c.187C>T p.R63W Substitution - Missense 3:136928188-136928188 + TCGA-DJ-A2PT-01 COSM3373031 c.221C>T p.T74I Substitution - Missense 3:136928222-136928222 + HCT15 COSM3123491 c.213A>G p.L71L Substitution - coding silent 3:136928214-136928214 + TCGA-A8-A0A6-01 COSM3846337 c.492T>G p.G164G Substitution - coding silent 3:136945848-136945848 + 255 COSM3732436 c.771A>G p.S257S Substitution - coding silent 3:136946127-136946127 + TCGA-AD-6964-01 COSM1419385 c.510C>T p.D170D Substitution - coding silent 3:136945866-136945866 + TCGA-60-2710-01 COSM728219 c.839A>G p.N280S Substitution - Missense 3:136946195-136946195 + TCGA-IR-A3LC-01 COSM4832221 c.314A>G p.Y105C Substitution - Missense 3:136945670-136945670 + 1920_T COSM3944912 c.227-4A>G p.? Unknown 3:136945579-136945579 + XHDG32 COSM4769348 c.681A>G p.P227P Substitution - coding silent 3:136946037-136946037 + YUROG COSM5398234 c.922C>T p.R308C Substitution - Missense 3:136946278-136946278 + LP6005409-DNA_A02 COSM4409730 c.804C>A p.Y268* Substitution - Nonsense 3:136946160-136946160 + TCGA-A8-A084-01 COSM445662 c.944A>G p.N315S Substitution - Missense 3:136948263-136948263 + PT36 COSM5915194 c.521C>T p.S174F Substitution - Missense 3:136945877-136945877 + HCC87T COSM1616967 c.11A>T p.E4V Substitution - Missense 3:136928012-136928012 + TCGA-B7-5818-01 COSM4113875 c.660T>G p.I220M Substitution - Missense 3:136946016-136946016 + TCGA-BR-4370-01 COSM4113877 c.806T>C p.I269T Substitution - Missense 3:136946162-136946162 + TCGA-BR-6452-01 COSM4113878 c.900A>G p.G300G Substitution - coding silent 3:136946256-136946256 + DLD1 COSM3123491 c.213A>G p.L71L Substitution - coding silent 3:136928214-136928214 + HN_62854 COSM124688 c.1006G>C p.E336Q Substitution - Missense 3:136948325-136948325 + 585223 COSM321951 c.202G>A p.V68M Substitution - Missense 3:136928203-136928203 + GC_313T-GC_313N COSM4774389 c.26C>G p.A9G Substitution - Missense 3:136928027-136928027 + TCGA-66-2783-01 COSM728221 c.118C>T p.R40* Substitution - Nonsense 3:136928119-136928119 + L21 COSM5369465 c.676G>A p.D226N Substitution - Missense 3:136946032-136946032 + EV006-R15 COSM4410900 c.677A>G p.D226G Substitution - Missense 3:136946033-136946033 + SNU-175 COSM84829 c.187C>T p.R63W Substitution - Missense 3:136928188-136928188 + TCGA-BR-6455-01 COSM4113876 c.695G>A p.C232Y Substitution - Missense 3:136946051-136946051 + TCGA-EE-A3JI-06 COSM3587885 c.802T>G p.Y268D Substitution - Missense 3:136946158-136946158 + TCGA-DU-A5TW-01 COSM3974181 c.124C>T p.R42* Substitution - Nonsense 3:136928125-136928125 + CSCC-19-T COSM4507391 c.744C>T p.T248T Substitution - coding silent 3:136946100-136946100 + PCSI_0228_Pa_P_526 COSM4965002 c.938C>T p.S313L Substitution - Missense 3:136946294-136946294 + LUAD-YKER9 COSM352139 c.1082T>C p.I361T Substitution - Missense 3:136948401-136948401 + TCGA-BK-A0C9-01 COSM1038930 c.268G>A p.A90T Substitution - Missense 3:136945624-136945624 + Pat_76_A COSM5863605 c.364G>A p.E122K Substitution - Missense 3:136945720-136945720 + HCC87 COSM1616967 c.11A>T p.E4V Substitution - Missense 3:136928012-136928012 + 61 COSM5736763 c.1030C>T p.R344C Substitution - Missense 3:136948349-136948349 + 1238_T COSM3944913 c.915C>G p.F305L Substitution - Missense 3:136946271-136946271 + CSCC-55-T COSM4455324 c.730A>G p.K244E Substitution - Missense 3:136946086-136946086 + OV202PT COSM253311 c.1003_1004delAA p.K335fs*10 Deletion - Frameshift 3:136948322-136948323 + S01864 COSM5671761 c.256G>T p.V86L Substitution - Missense 3:136945612-136945612 + Pat_76_B COSM5863605 c.364G>A p.E122K Substitution - Missense 3:136945720-136945720 + 19 COSM5746189 c.293T>C p.V98A Substitution - Missense 3:136945649-136945649 + TCGA-A3-3363-01 COSM1495364 c.551A>G p.N184S Substitution - Missense 3:136945907-136945907 + TCGA-22-5472-01 COSM728220 c.525G>T p.L175L Substitution - coding silent 3:136945881-136945881 + 2249677 COSM4413320 c.539C>T p.A180V Substitution - Missense 3:136945895-136945895 + 537 COSM3722722 c.761C>T p.P254L Substitution - Missense 3:136946117-136946117 + TCGA-BT-A2LB-01 COSM3774573 c.959C>T p.S320L Substitution - Missense 3:136948278-136948278 + LUAD-RT-S01711 COSM380180 c.516G>C p.V172V Substitution - coding silent 3:136945872-136945872 +

Mutation - CGAP UNIGENE CYTOBAND OMIM SNP Hs.477693 3q21 600508

Mutation - IntOGen Mutated from(ref) Mutated to(alt) Consequence Type AA Mutation CDS Mutation Chr Pos Cancer A G IntronicSNV . c.1-23965A>G 3 136622879 CLL A G IntronicSNV . c.1-28444A>G 3 136618400 HC A G Missense p.N280S c.839A>G 3 136665037 LUSC A G Missense p.N315S c.944A>G 3 136667105 BRCA A G Missense p.R28G c.82A>G 3 136646925 THCA A G Missense p.Y117C c.350A>G 3 136664548 LUAD A G Synonymous p.L321L c.963A>G 3 136667124 MB C A Missense p.F155L c.465C>A 3 136664663 HNSC C G Missense p.F201L c.603C>G 3 136664801 LUAD C G Nonsense p.S318* c.953C>G 3 136667114 HNSC C T Missense p.A90V c.269C>T 3 136664467 STAD C T Missense p.R63W c.187C>T 3 136647030 PAAD C T Missense p.S272L c.815C>T 3 136665013 HNSC C T Missense p.S320L c.959C>T 3 136667120 BLCA C T Missense p.T74I c.221C>T 3 136647064 THCA C T Nonsense p.R40* c.118C>T 3 136646961 LUSC C T Synonymous p.F305F c.915C>T 3 136665113 CM G A Missense p.A90T c.268G>A 3 136664466 UCEC G A Missense p.C232Y c.695G>A 3 136664893 STAD G A Missense p.V183I c.547G>A 3 136664745 HNSC G A Missense p.V68M c.202G>A 3 136647045 SCLC G C Missense p.E336Q c.1006G>C 3 136667167 HNSC G C Missense p.G285R c.853G>C 3 136665051 STAD G T IntronicSNV . c.1-28706G>T 3 136618138 HC G T Missense p.E177D c.531G>T 3 136664729 UCEC G T Synonymous p.L175L c.525G>T 3 136664723 LUSC T A IntronicSNV . c.1-4774T>A 3 136642070 CLL T C Missense p.I269T c.806T>C 3 136665004 STAD T G Missense p.Y268D c.802T>G 3 136665000 CM