Mutation - TCGA Type Chromosome Start Position End Position Strand Variant Classification Variant Type Reference Allele Tumor_seq Allele 1 Tumor_seq Allele 2 Tumor Sample Barcode Matched Norm Sample Barcode Genome Change cDNA Change Codon Change Protein Change ACC 3 140785132 140785132 + Silent SNP G G T TCGA-OR-A5KB-01A-11D-A30A-10 TCGA-OR-A5KB-11A-11D-A30A-10 g.chr3:140785132G>T c.186G>T c.(184-186)tcG>tcT p.S62S BLCA 3 140785230 140785230 + Missense_Mutation SNP G G A TCGA-K4-A5RI-01A-11D-A289-08 TCGA-K4-A5RI-10A-01D-A289-08 g.chr3:140785230G>A c.284G>A c.(283-285)cGc>cAc p.R95H BLCA 3 140785627 140785627 + Missense_Mutation SNP C C G TCGA-G2-A2EO-01A-11D-A17V-08 TCGA-G2-A2EO-11A-21D-A17V-08 g.chr3:140785627C>G c.681C>G c.(679-681)atC>atG p.I227M COAD 3 140785121 140785121 + Missense_Mutation SNP G G A TCGA-G4-6299-01A-11D-1771-10 TCGA-G4-6299-10A-01D-1771-10 g.chr3:140785121G>A c.175G>A c.(175-177)Gag>Aag p.E59K COAD 3 140785469 140785469 + Missense_Mutation SNP G G A TCGA-G4-6586-01A-11D-1771-10 TCGA-G4-6586-10A-01D-1771-10 g.chr3:140785469G>A c.523G>A c.(523-525)Gac>Aac p.D175N COAD 3 140785512 140785512 + Missense_Mutation SNP G G A TCGA-AD-6964-01A-11D-1924-10 TCGA-AD-6964-10A-01D-1924-10 g.chr3:140785512G>A c.566G>A c.(565-567)aGc>aAc p.S189N COAD 3 140785519 140785519 + Silent SNP C C T TCGA-D5-6923-01A-11D-1924-10 TCGA-D5-6923-10A-01D-1924-10 g.chr3:140785519C>T c.573C>T c.(571-573)atC>atT p.I191I COAD 3 140785563 140785563 + Missense_Mutation SNP G G A TCGA-AD-6899-01A-11D-1924-10 TCGA-AD-6899-10A-01D-1924-10 g.chr3:140785563G>A c.617G>A c.(616-618)gGc>gAc p.G206D COAD 3 140865986 140865986 + Missense_Mutation SNP G G A TCGA-AD-6889-01A-11D-1924-10 TCGA-AD-6889-10A-01D-1924-10 g.chr3:140865986G>A c.697G>A c.(697-699)Gag>Aag p.E233K COAD 3 140866109 140866109 + Nonstop_Mutation SNP T T C TCGA-AA-3812-01A-01W-0900-09 TCGA-AA-3812-10A-01W-0900-09 g.chr3:140866109T>C c.820T>C c.(820-822)Tga>Cga p.*274R COADREAD 3 140785121 140785121 + Missense_Mutation SNP G G A TCGA-G4-6299-01A-11D-1771-10 TCGA-G4-6299-10A-01D-1771-10 g.chr3:140785121G>A c.175G>A c.(175-177)Gag>Aag p.E59K COADREAD 3 140785469 140785469 + Missense_Mutation SNP G G A TCGA-G4-6586-01A-11D-1771-10 TCGA-G4-6586-10A-01D-1771-10 g.chr3:140785469G>A c.523G>A c.(523-525)Gac>Aac p.D175N COADREAD 3 140785512 140785512 + Missense_Mutation SNP G G A TCGA-AD-6964-01A-11D-1924-10 TCGA-AD-6964-10A-01D-1924-10 g.chr3:140785512G>A c.566G>A c.(565-567)aGc>aAc p.S189N COADREAD 3 140785519 140785519 + Silent SNP C C T TCGA-D5-6923-01A-11D-1924-10 TCGA-D5-6923-10A-01D-1924-10 g.chr3:140785519C>T c.573C>T c.(571-573)atC>atT p.I191I COADREAD 3 140785563 140785563 + Missense_Mutation SNP G G A TCGA-AD-6899-01A-11D-1924-10 TCGA-AD-6899-10A-01D-1924-10 g.chr3:140785563G>A c.617G>A c.(616-618)gGc>gAc p.G206D COADREAD 3 140865986 140865986 + Missense_Mutation SNP G G A TCGA-AD-6889-01A-11D-1924-10 TCGA-AD-6889-10A-01D-1924-10 g.chr3:140865986G>A c.697G>A c.(697-699)Gag>Aag p.E233K COADREAD 3 140866109 140866109 + Nonstop_Mutation SNP T T C TCGA-AA-3812-01A-01W-0900-09 TCGA-AA-3812-10A-01W-0900-09 g.chr3:140866109T>C c.820T>C c.(820-822)Tga>Cga p.*274R GBM 3 140866045 140866045 + Silent SNP G G A TCGA-12-5295-01A-01D-1486-08 TCGA-12-5295-10A-01D-1486-08 g.chr3:140866045G>A c.756G>A c.(754-756)caG>caA p.Q252Q GBMLGG 3 140785590 140785590 + Missense_Mutation SNP C C T TCGA-E1-5319-01A-01D-1893-08 TCGA-E1-5319-10A-01D-1893-08 g.chr3:140785590C>T c.644C>T c.(643-645)gCc>gTc p.A215V GBMLGG 3 140866045 140866045 + Silent SNP G G A TCGA-12-5295-01A-01D-1486-08 TCGA-12-5295-10A-01D-1486-08 g.chr3:140866045G>A c.756G>A c.(754-756)caG>caA p.Q252Q HNSC 3 140785393 140785393 + Silent SNP C C T TCGA-CQ-7071-01A-12D-A30E-08 TCGA-CQ-7071-10A-01D-A30H-08 g.chr3:140785393C>T c.447C>T c.(445-447)ctC>ctT p.L149L HNSC 3 140785418 140785418 + Missense_Mutation SNP G G A TCGA-CV-A45R-01A-11D-A24D-08 TCGA-CV-A45R-10A-01D-A24F-08 g.chr3:140785418G>A c.472G>A c.(472-474)Ggc>Agc p.G158S HNSC 3 140785630 140785630 + Silent SNP C C T TCGA-D6-6825-01A-21D-1912-08 TCGA-D6-6825-10A-01D-1912-08 g.chr3:140785630C>T c.684C>T c.(682-684)aaC>aaT p.N228N HNSC 3 140785637 140785637 + Missense_Mutation SNP G G A TCGA-F7-A623-01A-11D-A28R-08 TCGA-F7-A623-10A-01D-A28U-08 g.chr3:140785637G>A c.691G>A c.(691-693)Gac>Aac p.D231N LGG 3 140785590 140785590 + Missense_Mutation SNP C C T TCGA-E1-5319-01A-01D-1893-08 TCGA-E1-5319-10A-01D-1893-08 g.chr3:140785590C>T c.644C>T c.(643-645)gCc>gTc p.A215V LIHC 3 140785482 140785482 + Missense_Mutation SNP T T A TCGA-DD-AAC8-01A-11D-A40R-10 TCGA-DD-AAC8-10A-01D-A40U-10 g.chr3:140785482T>A c.536T>A c.(535-537)gTg>gAg p.V179E LIHC 3 140785585 140785585 + Silent SNP G G T TCGA-UB-A7MB-01A-11D-A33Q-10 TCGA-UB-A7MB-10A-01D-A33Q-10 g.chr3:140785585G>T c.639G>T c.(637-639)gtG>gtT p.V213V LUAD 3 140785432 140785432 + Silent SNP G G T TCGA-05-5425-01A-02D-1625-08 TCGA-05-5425-10A-01D-1625-08 g.chr3:140785432G>T c.486G>T c.(484-486)ccG>ccT p.P162P LUAD 3 140785640 140785640 + Splice_Site SNP C C T TCGA-55-6968-01A-11D-1945-08 TCGA-55-6968-11A-01D-1945-08 g.chr3:140785640C>T c.694C>T c.(694-696)Ccc>Tcc p.P232S LUAD 3 140866040 140866040 + Missense_Mutation SNP C C A TCGA-55-8204-01A-11D-2238-08 TCGA-55-8204-10A-01D-2238-08 g.chr3:140866040C>A c.751C>A c.(751-753)Cgc>Agc p.R251S LUAD 3 140866057 140866057 + Missense_Mutation SNP C C G TCGA-55-A491-01A-11D-A24D-08 TCGA-55-A491-10A-01D-A24F-08 g.chr3:140866057C>G c.768C>G c.(766-768)gaC>gaG p.D256E PAAD 3 140785480 140785480 + Silent SNP C C T TCGA-IB-7651-01A-11D-2154-08 TCGA-IB-7651-10A-01D-2154-08 g.chr3:140785480C>T c.534C>T c.(532-534)ctC>ctT p.L178L PAAD 3 140785540 140785540 + Silent SNP C C T TCGA-IB-7651-01A-11D-2154-08 TCGA-IB-7651-10A-01D-2154-08 g.chr3:140785540C>T c.594C>T c.(592-594)ggC>ggT p.G198G PAAD 3 140785571 140785571 + Silent SNP C C T TCGA-IB-7651-01A-11D-2154-08 TCGA-IB-7651-10A-01D-2154-08 g.chr3:140785571C>T c.625C>T c.(625-627)Ctg>Ttg p.L209L PAAD 3 140866041 140866041 + Missense_Mutation SNP G G A TCGA-HZ-A77P-01A-11D-A33T-08 TCGA-HZ-A77P-10A-01D-A33W-08 g.chr3:140866041G>A c.752G>A c.(751-753)cGc>cAc p.R251H PRAD 3 140866040 140866040 + Missense_Mutation SNP C C T TCGA-J9-A52C-01A-11D-A26M-08 TCGA-J9-A52C-10A-01D-A26K-08 g.chr3:140866040C>T c.751C>T c.(751-753)Cgc>Tgc p.R251C SARC 3 140866004 140866004 + Missense_Mutation SNP G G A TCGA-QC-A7B5-01A-11D-A33E-09 TCGA-QC-A7B5-11A-11D-A33H-09 g.chr3:140866004G>A c.715G>A c.(715-717)Gac>Aac p.D239N SKCM 3 140785431 140785431 + Missense_Mutation SNP C C T TCGA-EE-A2GI-06A-11D-A196-08 TCGA-EE-A2GI-10A-01D-A198-08 g.chr3:140785431C>T c.485C>T c.(484-486)cCg>cTg p.P162L SKCM 3 140785535 140785535 + Silent SNP C C T TCGA-EE-A29E-06A-11D-A197-08 TCGA-EE-A29E-10A-01D-A199-08 g.chr3:140785535C>T c.589C>T c.(589-591)Ctg>Ttg p.L197L SKCM 3 140785549 140785549 + Silent SNP C C T TCGA-EE-A2GO-06A-11D-A196-08 TCGA-EE-A2GO-10A-01D-A198-08 g.chr3:140785549C>T c.603C>T c.(601-603)ttC>ttT p.F201F SKCM 3 140785598 140785598 + Missense_Mutation SNP G G A TCGA-EE-A2GL-06A-11D-A196-08 TCGA-EE-A2GL-10A-01D-A198-08 g.chr3:140785598G>A c.652G>A c.(652-654)Ggc>Agc p.G218S SKCM 3 140866004 140866004 + Missense_Mutation SNP G G A TCGA-EE-A3J7-06A-11D-A20D-08 TCGA-EE-A3J7-10A-01D-A20D-08 g.chr3:140866004G>A c.715G>A c.(715-717)Gac>Aac p.D239N SKCM 3 140866065 140866065 + Missense_Mutation SNP C C T TCGA-GF-A6C9-06A-11D-A30X-08 TCGA-GF-A6C9-10A-01D-A30X-08 g.chr3:140866065C>T c.776C>T c.(775-777)tCc>tTc p.S259F SKCM 3 140866079 140866079 + Nonsense_Mutation SNP C C T TCGA-GF-A6C9-06A-11D-A30X-08 TCGA-GF-A6C9-10A-01D-A30X-08 g.chr3:140866079C>T c.790C>T c.(790-792)Cag>Tag p.Q264*

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 140785627 140785627 single base substitution C G exon_variant BLCA-US 3 140785627 140785627 single base substitution C G missense_variant I227M 681C>G BOCA-FR 3 140847122 140847122 single base substitution G C intron_variant BOCA-FR 3 140866130 140866130 single base substitution C T 3_prime_UTR_variant BOCA-FR 3 140866130 140866130 single base substitution C T exon_variant BRCA-EU 3 140765731 140765731 single base substitution G T upstream_gene_variant BRCA-EU 3 140766555 140766555 single base substitution G A upstream_gene_variant BRCA-EU 3 140766644 140766644 single base substitution G A upstream_gene_variant BRCA-EU 3 140766929 140766929 single base substitution A C upstream_gene_variant BRCA-EU 3 140766938 140766938 single base substitution G C upstream_gene_variant BRCA-EU 3 140768363 140768363 deletion of <=200bp G - upstream_gene_variant BRCA-EU 3 140768522 140768522 single base substitution G A upstream_gene_variant BRCA-EU 3 140768680 140768680 single base substitution G T upstream_gene_variant BRCA-EU 3 140769274 140769274 single base substitution C T upstream_gene_variant BRCA-EU 3 140772236 140772236 single base substitution A C intron_variant BRCA-EU 3 140772588 140772588 single base substitution A T intron_variant BRCA-EU 3 140773050 140773050 single base substitution G A intron_variant BRCA-EU 3 140773580 140773580 single base substitution G T intron_variant BRCA-EU 3 140774003 140774003 single base substitution G C intron_variant BRCA-EU 3 140774075 140774075 single base substitution G A intron_variant BRCA-EU 3 140774653 140774653 single base substitution G T intron_variant BRCA-EU 3 140775234 140775234 single base substitution A T intron_variant BRCA-EU 3 140775356 140775356 single base substitution T C intron_variant BRCA-EU 3 140775929 140775929 single base substitution G C intron_variant BRCA-EU 3 140775988 140775988 single base substitution G T intron_variant BRCA-EU 3 140778022 140778022 deletion of <=200bp C - intron_variant BRCA-EU 3 140778499 140778499 single base substitution G T intron_variant BRCA-EU 3 140779680 140779680 single base substitution A G intron_variant BRCA-EU 3 140780123 140780123 insertion of <=200bp - A intron_variant BRCA-EU 3 140783041 140783041 single base substitution C T intron_variant BRCA-EU 3 140783041 140783041 single base substitution C T upstream_gene_variant BRCA-EU 3 140783529 140783529 single base substitution C G intron_variant BRCA-EU 3 140783529 140783529 single base substitution C G upstream_gene_variant BRCA-EU 3 140783996 140783996 single base substitution T C intron_variant BRCA-EU 3 140783996 140783996 single base substitution T C upstream_gene_variant BRCA-EU 3 140784389 140784389 single base substitution C T intron_variant BRCA-EU 3 140784389 140784389 single base substitution C T upstream_gene_variant BRCA-EU 3 140784675 140784675 single base substitution C T intron_variant BRCA-EU 3 140784675 140784675 single base substitution C T upstream_gene_variant BRCA-EU 3 140785052 140785052 single base substitution C T missense_variant R36W 106C>T BRCA-EU 3 140785052 140785052 single base substitution C T upstream_gene_variant BRCA-EU 3 140785289 140785289 single base substitution G A missense_variant V115I 343G>A BRCA-EU 3 140785289 140785289 single base substitution G A upstream_gene_variant BRCA-EU 3 140785558 140785558 single base substitution C G exon_variant BRCA-EU 3 140785558 140785558 single base substitution C G synonymous_variant L204L 612C>G BRCA-EU 3 140785666 140785666 single base substitution G A intron_variant BRCA-EU 3 140787884 140787884 single base substitution T A intron_variant BRCA-EU 3 140787917 140787917 single base substitution C G intron_variant BRCA-EU 3 140788326 140788326 single base substitution C T intron_variant BRCA-EU 3 140788624 140788624 single base substitution A G intron_variant BRCA-EU 3 140789593 140789593 single base substitution A G intron_variant BRCA-EU 3 140789628 140789628 single base substitution G C intron_variant BRCA-EU 3 140789873 140789873 single base substitution C A intron_variant BRCA-EU 3 140790260 140790260 single base substitution C T intron_variant BRCA-EU 3 140791678 140791678 single base substitution C A intron_variant BRCA-EU 3 140791678 140791678 single base substitution C A upstream_gene_variant BRCA-EU 3 140792202 140792202 single base substitution G C intron_variant BRCA-EU 3 140792202 140792202 single base substitution G C upstream_gene_variant BRCA-EU 3 140793796 140793796 single base substitution A G intron_variant BRCA-EU 3 140793796 140793796 single base substitution A G upstream_gene_variant BRCA-EU 3 140796105 140796105 single base substitution G A exon_variant BRCA-EU 3 140796105 140796105 single base substitution G A intron_variant BRCA-EU 3 140796105 140796105 single base substitution G A upstream_gene_variant BRCA-EU 3 140796474 140796474 single base substitution C G intron_variant BRCA-EU 3 140798462 140798462 single base substitution G A intron_variant BRCA-EU 3 140798855 140798855 insertion of <=200bp - T intron_variant BRCA-EU 3 140801440 140801440 single base substitution C T downstream_gene_variant BRCA-EU 3 140801440 140801440 single base substitution C T intron_variant BRCA-EU 3 140802246 140802246 single base substitution C A downstream_gene_variant BRCA-EU 3 140802246 140802246 single base substitution C A intron_variant BRCA-EU 3 140803756 140803756 single base substitution G A downstream_gene_variant BRCA-EU 3 140803756 140803756 single base substitution G A intron_variant BRCA-EU 3 140804212 140804212 single base substitution C A downstream_gene_variant BRCA-EU 3 140804212 140804212 single base substitution C A intron_variant BRCA-EU 3 140804799 140804799 single base substitution T G intron_variant BRCA-EU 3 140805576 140805576 single base substitution T A intron_variant BRCA-EU 3 140807549 140807549 single base substitution T C intron_variant BRCA-EU 3 140808740 140808740 insertion of <=200bp - T intron_variant BRCA-EU 3 140810008 140810008 single base substitution C T intron_variant BRCA-EU 3 140810323 140810323 single base substitution C G intron_variant BRCA-EU 3 140810358 140810358 single base substitution T G intron_variant BRCA-EU 3 140814677 140814677 single base substitution A G intron_variant BRCA-EU 3 140815704 140815704 single base substitution C T intron_variant BRCA-EU 3 140816079 140816079 single base substitution G A intron_variant BRCA-EU 3 140816509 140816509 single base substitution C T intron_variant BRCA-EU 3 140816705 140816705 single base substitution A C intron_variant BRCA-EU 3 140816706 140816706 single base substitution A T intron_variant BRCA-EU 3 140817768 140817768 single base substitution C A intron_variant BRCA-EU 3 140817769 140817769 single base substitution G A intron_variant BRCA-EU 3 140817905 140817905 single base substitution C T intron_variant BRCA-EU 3 140818509 140818509 single base substitution G C intron_variant BRCA-EU 3 140819166 140819166 single base substitution G C intron_variant BRCA-EU 3 140819760 140819760 single base substitution G T intron_variant BRCA-EU 3 140820146 140820146 single base substitution C T intron_variant BRCA-EU 3 140822713 140822713 single base substitution G A intron_variant BRCA-EU 3 140823035 140823035 single base substitution G A intron_variant BRCA-EU 3 140824325 140824325 single base substitution T C intron_variant BRCA-EU 3 140824505 140824505 single base substitution G A intron_variant BRCA-EU 3 140824680 140824680 single base substitution C A intron_variant BRCA-EU 3 140826400 140826400 single base substitution G C intron_variant BRCA-EU 3 140826720 140826720 single base substitution G A intron_variant BRCA-EU 3 140826726 140826726 single base substitution G A intron_variant BRCA-EU 3 140827477 140827477 single base substitution C T intron_variant BRCA-EU 3 140827934 140827934 single base substitution A T intron_variant BRCA-EU 3 140829521 140829521 single base substitution G A intron_variant BRCA-EU 3 140829675 140829675 single base substitution A G intron_variant BRCA-EU 3 140829692 140829692 single base substitution G C intron_variant BRCA-EU 3 140831780 140831780 single base substitution C A intron_variant BRCA-EU 3 140832305 140832316 deletion of <=200bp GGAATGACATTC - intron_variant BRCA-EU 3 140832676 140832676 single base substitution G A intron_variant BRCA-EU 3 140832736 140832736 single base substitution G C intron_variant BRCA-EU 3 140832798 140832798 single base substitution C T intron_variant BRCA-EU 3 140835533 140835533 single base substitution A G intron_variant BRCA-EU 3 140835966 140835966 single base substitution G C intron_variant BRCA-EU 3 140836506 140836506 single base substitution G A intron_variant BRCA-EU 3 140836600 140836600 single base substitution G C intron_variant BRCA-EU 3 140836759 140836759 single base substitution G T intron_variant BRCA-EU 3 140837184 140837184 insertion of <=200bp - T intron_variant BRCA-EU 3 140837416 140837416 single base substitution G C intron_variant BRCA-EU 3 140839013 140839013 single base substitution T G intron_variant BRCA-EU 3 140839349 140839349 single base substitution G C intron_variant BRCA-EU 3 140839609 140839609 single base substitution G C intron_variant BRCA-EU 3 140839969 140839969 single base substitution C T intron_variant BRCA-EU 3 140840058 140840058 single base substitution C A intron_variant BRCA-EU 3 140840298 140840298 single base substitution C T intron_variant BRCA-EU 3 140840353 140840353 single base substitution T C intron_variant BRCA-EU 3 140841469 140841469 single base substitution G A intron_variant BRCA-EU 3 140842440 140842440 single base substitution G T intron_variant BRCA-EU 3 140842570 140842570 single base substitution G T intron_variant BRCA-EU 3 140843766 140843766 single base substitution C T intron_variant BRCA-EU 3 140843926 140843926 insertion of <=200bp - C intron_variant BRCA-EU 3 140844478 140844478 single base substitution G T intron_variant BRCA-EU 3 140846119 140846119 single base substitution A C intron_variant BRCA-EU 3 140849298 140849298 single base substitution C T intron_variant BRCA-EU 3 140849594 140849594 single base substitution G T intron_variant BRCA-EU 3 140849964 140849964 single base substitution G A intron_variant BRCA-EU 3 140850192 140850192 single base substitution G A intron_variant BRCA-EU 3 140850385 140850385 single base substitution T C intron_variant BRCA-EU 3 140850583 140850583 single base substitution A T intron_variant BRCA-EU 3 140850833 140850833 deletion of <=200bp T - intron_variant BRCA-EU 3 140853587 140853587 single base substitution T A intron_variant BRCA-EU 3 140855337 140855337 single base substitution C G intron_variant BRCA-EU 3 140855593 140855593 single base substitution A T intron_variant BRCA-EU 3 140856005 140856005 single base substitution A T intron_variant BRCA-EU 3 140856080 140856080 single base substitution G T intron_variant BRCA-EU 3 140856123 140856123 single base substitution T A intron_variant BRCA-EU 3 140856937 140856937 single base substitution C T intron_variant BRCA-EU 3 140857117 140857117 single base substitution C A intron_variant BRCA-EU 3 140857347 140857347 single base substitution A T intron_variant BRCA-EU 3 140858235 140858235 single base substitution T A intron_variant BRCA-EU 3 140858246 140858246 single base substitution T A intron_variant BRCA-EU 3 140858302 140858302 single base substitution G T intron_variant BRCA-EU 3 140858673 140858673 single base substitution G C intron_variant BRCA-EU 3 140859074 140859074 single base substitution C T intron_variant BRCA-EU 3 140860218 140860218 single base substitution C T intron_variant BRCA-EU 3 140860307 140860307 single base substitution C G intron_variant BRCA-EU 3 140860317 140860317 deletion of <=200bp C - intron_variant BRCA-EU 3 140860810 140860810 single base substitution C A intron_variant BRCA-EU 3 140862623 140862623 single base substitution A C intron_variant BRCA-EU 3 140862919 140862919 single base substitution T A intron_variant BRCA-EU 3 140863511 140863511 single base substitution T C intron_variant BRCA-EU 3 140864148 140864148 single base substitution C T intron_variant BRCA-EU 3 140866845 140866845 single base substitution G C 3_prime_UTR_variant BRCA-EU 3 140866845 140866845 single base substitution G C downstream_gene_variant BRCA-EU 3 140866915 140866915 single base substitution A G 3_prime_UTR_variant BRCA-EU 3 140866915 140866915 single base substitution A G downstream_gene_variant BRCA-EU 3 140869644 140869644 single base substitution C T downstream_gene_variant BRCA-EU 3 140869740 140869740 single base substitution C T downstream_gene_variant BRCA-EU 3 140870689 140870689 single base substitution G C downstream_gene_variant BRCA-EU 3 140870817 140870817 single base substitution G A downstream_gene_variant BRCA-EU 3 140871536 140871536 single base substitution A T downstream_gene_variant BRCA-EU 3 140871924 140871924 single base substitution T A downstream_gene_variant BRCA-FR 3 140769594 140769594 single base substitution C T upstream_gene_variant BRCA-FR 3 140781514 140781514 single base substitution A T intron_variant BRCA-FR 3 140781514 140781514 single base substitution A T upstream_gene_variant BRCA-FR 3 140783041 140783041 single base substitution C T intron_variant BRCA-FR 3 140783041 140783041 single base substitution C T upstream_gene_variant BRCA-FR 3 140794539 140794539 single base substitution C T intron_variant BRCA-FR 3 140794539 140794539 single base substitution C T upstream_gene_variant BRCA-FR 3 140796474 140796474 single base substitution C G intron_variant BRCA-FR 3 140796844 140796844 single base substitution C A intron_variant BRCA-FR 3 140804015 140804015 single base substitution G C downstream_gene_variant BRCA-FR 3 140804015 140804015 single base substitution G C intron_variant BRCA-FR 3 140816509 140816509 single base substitution C T intron_variant BRCA-FR 3 140823687 140823687 single base substitution G C intron_variant BRCA-FR 3 140829675 140829675 single base substitution A G intron_variant BRCA-FR 3 140840058 140840058 single base substitution C A intron_variant BRCA-FR 3 140862919 140862919 single base substitution T A intron_variant BRCA-FR 3 140863496 140863496 single base substitution G C intron_variant BRCA-FR 3 140870817 140870817 single base substitution G A downstream_gene_variant BRCA-UK 3 140775988 140775988 single base substitution G T intron_variant BRCA-UK 3 140796105 140796105 single base substitution G A exon_variant BRCA-UK 3 140796105 140796105 single base substitution G A intron_variant BRCA-UK 3 140796105 140796105 single base substitution G A upstream_gene_variant BRCA-UK 3 140796808 140796808 single base substitution C G intron_variant BRCA-UK 3 140798990 140798990 single base substitution G A intron_variant BRCA-UK 3 140809595 140809595 single base substitution G C intron_variant BRCA-UK 3 140842570 140842570 single base substitution G T intron_variant BRCA-UK 3 140850308 140850308 single base substitution G A intron_variant BRCA-UK 3 140851473 140851473 single base substitution G C intron_variant BRCA-UK 3 140858246 140858246 single base substitution T A intron_variant BRCA-UK 3 140858386 140858386 single base substitution C G intron_variant BRCA-UK 3 140859249 140859249 single base substitution C A intron_variant CLLE-ES 3 140767825 140767825 single base substitution G A upstream_gene_variant CLLE-ES 3 140794936 140794936 single base substitution C T intron_variant CLLE-ES 3 140794936 140794936 single base substitution C T upstream_gene_variant CLLE-ES 3 140812477 140812477 single base substitution C A intron_variant CLLE-ES 3 140819946 140819946 single base substitution G A intron_variant CLLE-ES 3 140820408 140820408 single base substitution A T intron_variant CLLE-ES 3 140833255 140833255 single base substitution C T intron_variant CLLE-ES 3 140835914 140835914 single base substitution G T intron_variant CLLE-ES 3 140843552 140843552 single base substitution G A intron_variant CLLE-ES 3 140846424 140846424 single base substitution T G intron_variant CLLE-ES 3 140846573 140846573 single base substitution A G intron_variant CLLE-ES 3 140865012 140865012 single base substitution C A intron_variant CLLE-ES 3 140870178 140870178 single base substitution G A downstream_gene_variant COAD-US 3 140785175 140785175 single base substitution C A synonymous_variant R77R 229C>A COAD-US 3 140785175 140785175 single base substitution C A upstream_gene_variant COAD-US 3 140785469 140785469 single base substitution G A missense_variant D175N 523G>A COAD-US 3 140785469 140785469 single base substitution G A upstream_gene_variant COAD-US 3 140785512 140785512 single base substitution G A exon_variant COAD-US 3 140785512 140785512 single base substitution G A missense_variant S189N 566G>A COAD-US 3 140785563 140785563 single base substitution G A exon_variant COAD-US 3 140785563 140785563 single base substitution G A missense_variant G206D 617G>A COAD-US 3 140865986 140865986 single base substitution G A missense_variant E233K 697G>A COAD-US 3 140865986 140865986 single base substitution G A splice_region_variant COCA-CN 3 140784929 140784929 single base substitution T C 5_prime_UTR_variant COCA-CN 3 140784929 140784929 single base substitution T C upstream_gene_variant EOPC-DE 3 140788362 140788362 single base substitution G A intron_variant EOPC-DE 3 140793006 140793006 single base substitution G A intron_variant EOPC-DE 3 140793006 140793006 single base substitution G A upstream_gene_variant EOPC-DE 3 140832635 140832635 single base substitution T G intron_variant EOPC-DE 3 140844544 140844544 single base substitution G T intron_variant ESAD-UK 3 140765521 140765521 single base substitution A C upstream_gene_variant ESAD-UK 3 140765551 140765551 single base substitution A C upstream_gene_variant ESAD-UK 3 140766109 140766109 single base substitution T G upstream_gene_variant ESAD-UK 3 140766422 140766422 single base substitution C T upstream_gene_variant ESAD-UK 3 140766833 140766833 single base substitution C A upstream_gene_variant ESAD-UK 3 140768446 140768446 single base substitution A G upstream_gene_variant ESAD-UK 3 140768781 140768781 single base substitution T G upstream_gene_variant ESAD-UK 3 140770499 140770499 single base substitution C T 5_prime_UTR_variant ESAD-UK 3 140770592 140770592 single base substitution G A 5_prime_UTR_variant ESAD-UK 3 140770920 140770920 single base substitution C T intron_variant ESAD-UK 3 140771084 140771084 single base substitution A G intron_variant ESAD-UK 3 140772322 140772322 single base substitution A C intron_variant ESAD-UK 3 140772706 140772706 single base substitution A G intron_variant ESAD-UK 3 140774471 140774471 single base substitution C A intron_variant ESAD-UK 3 140775769 140775769 single base substitution C T intron_variant ESAD-UK 3 140776438 140776438 single base substitution G T intron_variant ESAD-UK 3 140777892 140777892 single base substitution A C intron_variant ESAD-UK 3 140778760 140778760 single base substitution A C intron_variant ESAD-UK 3 140779347 140779347 single base substitution G A intron_variant ESAD-UK 3 140779484 140779484 single base substitution A T intron_variant ESAD-UK 3 140779742 140779742 deletion of <=200bp T - intron_variant ESAD-UK 3 140779863 140779863 single base substitution T A intron_variant ESAD-UK 3 140779863 140779863 single base substitution T G intron_variant ESAD-UK 3 140784911 140784911 single base substitution C T 5_prime_UTR_variant ESAD-UK 3 140784911 140784911 single base substitution C T upstream_gene_variant ESAD-UK 3 140786777 140786777 single base substitution T C intron_variant ESAD-UK 3 140788758 140788758 single base substitution G A intron_variant ESAD-UK 3 140789581 140789581 single base substitution A C intron_variant ESAD-UK 3 140789833 140789833 single base substitution T G intron_variant ESAD-UK 3 140789926 140789926 single base substitution A G intron_variant ESAD-UK 3 140790209 140790209 single base substitution A G intron_variant ESAD-UK 3 140790662 140790662 single base substitution C A intron_variant ESAD-UK 3 140790728 140790728 single base substitution C A intron_variant ESAD-UK 3 140790898 140790898 single base substitution T G intron_variant ESAD-UK 3 140790898 140790898 single base substitution T G upstream_gene_variant ESAD-UK 3 140791070 140791070 single base substitution C T intron_variant ESAD-UK 3 140791070 140791070 single base substitution C T upstream_gene_variant ESAD-UK 3 140792260 140792260 single base substitution T A intron_variant ESAD-UK 3 140792260 140792260 single base substitution T A upstream_gene_variant ESAD-UK 3 140797347 140797347 single base substitution A C intron_variant ESAD-UK 3 140797413 140797413 single base substitution A G intron_variant ESAD-UK 3 140797951 140797951 single base substitution A C intron_variant ESAD-UK 3 140799236 140799236 single base substitution T G downstream_gene_variant ESAD-UK 3 140799236 140799236 single base substitution T G exon_variant ESAD-UK 3 140799236 140799236 single base substitution T G intron_variant ESAD-UK 3 140799339 140799339 single base substitution G T downstream_gene_variant ESAD-UK 3 140799339 140799339 single base substitution G T intron_variant ESAD-UK 3 140799425 140799425 single base substitution G T downstream_gene_variant ESAD-UK 3 140799425 140799425 single base substitution G T intron_variant ESAD-UK 3 140799592 140799592 single base substitution A G downstream_gene_variant ESAD-UK 3 140799592 140799592 single base substitution A G intron_variant ESAD-UK 3 140802082 140802082 single base substitution G C downstream_gene_variant ESAD-UK 3 140802082 140802082 single base substitution G C intron_variant ESAD-UK 3 140802196 140802196 deletion of <=200bp C - downstream_gene_variant ESAD-UK 3 140802196 140802196 deletion of <=200bp C - intron_variant ESAD-UK 3 140802717 140802717 single base substitution C A downstream_gene_variant ESAD-UK 3 140802717 140802717 single base substitution C A intron_variant ESAD-UK 3 140803502 140803502 single base substitution C T downstream_gene_variant ESAD-UK 3 140803502 140803502 single base substitution C T intron_variant ESAD-UK 3 140805264 140805264 single base substitution A T intron_variant ESAD-UK 3 140806887 140806887 single base substitution A C intron_variant ESAD-UK 3 140809759 140809759 single base substitution A C intron_variant ESAD-UK 3 140809762 140809762 single base substitution A C intron_variant ESAD-UK 3 140810307 140810307 single base substitution T C intron_variant ESAD-UK 3 140812137 140812137 single base substitution T C intron_variant ESAD-UK 3 140812478 140812478 single base substitution G A intron_variant ESAD-UK 3 140812789 140812789 single base substitution C T intron_variant ESAD-UK 3 140814035 140814035 single base substitution C T intron_variant ESAD-UK 3 140814504 140814504 single base substitution C A intron_variant ESAD-UK 3 140814831 140814831 single base substitution A C intron_variant ESAD-UK 3 140815424 140815424 single base substitution C A intron_variant ESAD-UK 3 140815671 140815671 single base substitution A G intron_variant ESAD-UK 3 140816276 140816276 insertion of <=200bp - T intron_variant ESAD-UK 3 140816280 140816280 single base substitution T A intron_variant ESAD-UK 3 140820187 140820187 single base substitution A G intron_variant ESAD-UK 3 140820256 140820256 single base substitution C T intron_variant ESAD-UK 3 140820454 140820454 single base substitution A T intron_variant ESAD-UK 3 140820750 140820750 single base substitution T A intron_variant ESAD-UK 3 140821231 140821231 single base substitution G A intron_variant ESAD-UK 3 140821348 140821348 single base substitution A C intron_variant ESAD-UK 3 140822152 140822152 single base substitution T G intron_variant ESAD-UK 3 140823133 140823133 single base substitution A T intron_variant ESAD-UK 3 140823529 140823529 single base substitution G A intron_variant ESAD-UK 3 140823959 140823959 single base substitution T A intron_variant ESAD-UK 3 140824670 140824670 single base substitution A T intron_variant ESAD-UK 3 140824673 140824673 single base substitution A C intron_variant ESAD-UK 3 140825146 140825146 single base substitution G A intron_variant ESAD-UK 3 140825707 140825707 single base substitution T G intron_variant ESAD-UK 3 140825828 140825828 single base substitution T A intron_variant ESAD-UK 3 140826245 140826245 single base substitution C T intron_variant ESAD-UK 3 140826873 140826873 single base substitution G A intron_variant ESAD-UK 3 140827519 140827519 single base substitution C T intron_variant ESAD-UK 3 140828191 140828191 single base substitution G T intron_variant ESAD-UK 3 140828943 140828943 single base substitution C T intron_variant ESAD-UK 3 140829159 140829159 single base substitution C A intron_variant ESAD-UK 3 140830260 140830260 single base substitution G A intron_variant ESAD-UK 3 140831950 140831950 single base substitution A G intron_variant ESAD-UK 3 140832880 140832880 single base substitution A C intron_variant ESAD-UK 3 140833141 140833141 single base substitution G T intron_variant ESAD-UK 3 140835173 140835173 single base substitution G A intron_variant ESAD-UK 3 140836545 140836545 single base substitution T C intron_variant ESAD-UK 3 140837008 140837008 single base substitution T C intron_variant ESAD-UK 3 140837342 140837342 single base substitution C T intron_variant ESAD-UK 3 140838406 140838406 single base substitution G C intron_variant ESAD-UK 3 140838695 140838695 insertion of <=200bp - A intron_variant ESAD-UK 3 140838781 140838781 single base substitution T G intron_variant ESAD-UK 3 140840937 140840937 single base substitution T G intron_variant ESAD-UK 3 140841340 140841340 single base substitution C A intron_variant ESAD-UK 3 140841828 140841828 single base substitution C A intron_variant ESAD-UK 3 140843896 140843896 single base substitution A C intron_variant ESAD-UK 3 140845033 140845033 single base substitution A T intron_variant ESAD-UK 3 140845035 140845035 single base substitution A G intron_variant ESAD-UK 3 140845077 140845077 single base substitution A C intron_variant ESAD-UK 3 140845376 140845376 single base substitution C A intron_variant ESAD-UK 3 140845683 140845683 single base substitution T G intron_variant ESAD-UK 3 140846728 140846728 single base substitution C T intron_variant ESAD-UK 3 140848473 140848473 single base substitution C T intron_variant ESAD-UK 3 140848882 140848882 single base substitution C T intron_variant ESAD-UK 3 140849035 140849035 single base substitution A C intron_variant ESAD-UK 3 140849524 140849524 single base substitution G A intron_variant ESAD-UK 3 140850154 140850154 single base substitution C T intron_variant ESAD-UK 3 140851359 140851359 single base substitution A C intron_variant ESAD-UK 3 140853060 140853060 single base substitution A G intron_variant ESAD-UK 3 140853492 140853492 single base substitution C T intron_variant ESAD-UK 3 140854116 140854116 single base substitution A C intron_variant ESAD-UK 3 140856374 140856374 single base substitution T G intron_variant ESAD-UK 3 140857868 140857868 single base substitution G T intron_variant ESAD-UK 3 140859662 140859662 single base substitution A G intron_variant ESAD-UK 3 140860929 140860929 single base substitution G C intron_variant ESAD-UK 3 140861358 140861358 single base substitution G T intron_variant ESAD-UK 3 140862927 140862927 single base substitution C T intron_variant ESAD-UK 3 140863897 140863897 single base substitution G A intron_variant ESAD-UK 3 140864344 140864344 single base substitution A C intron_variant ESAD-UK 3 140865474 140865474 single base substitution G A intron_variant ESAD-UK 3 140865981 140865981 single base substitution C T intron_variant ESAD-UK 3 140866322 140866322 single base substitution C G 3_prime_UTR_variant ESAD-UK 3 140866322 140866322 single base substitution C G downstream_gene_variant ESAD-UK 3 140866980 140866980 insertion of <=200bp - G 3_prime_UTR_variant ESAD-UK 3 140866980 140866980 insertion of <=200bp - G downstream_gene_variant ESAD-UK 3 140867360 140867360 single base substitution G T 3_prime_UTR_variant ESAD-UK 3 140867360 140867360 single base substitution G T downstream_gene_variant ESAD-UK 3 140867992 140867992 single base substitution G A downstream_gene_variant ESAD-UK 3 140869340 140869340 single base substitution A C downstream_gene_variant ESAD-UK 3 140870553 140870553 single base substitution G A downstream_gene_variant ESCA-CN 3 140785468 140785468 single base substitution C T synonymous_variant P174P 522C>T ESCA-CN 3 140785468 140785468 single base substitution C T upstream_gene_variant GBM-US 3 140866045 140866045 single base substitution G A 3_prime_UTR_variant GBM-US 3 140866045 140866045 single base substitution G A exon_variant GBM-US 3 140866045 140866045 single base substitution G A synonymous_variant Q252Q 756G>A LAML-KR 3 140860025 140860025 single base substitution C T intron_variant LGG-US 3 140785590 140785590 single base substitution C T exon_variant LGG-US 3 140785590 140785590 single base substitution C T missense_variant A215V 644C>T LICA-CN 3 140785132 140785132 single base substitution G T synonymous_variant S62S 186G>T LICA-CN 3 140785132 140785132 single base substitution G T upstream_gene_variant LICA-FR 3 140782460 140782460 single base substitution A T intron_variant LICA-FR 3 140782460 140782460 single base substitution A T upstream_gene_variant LICA-FR 3 140785154 140785154 single base substitution G T missense_variant D70Y 208G>T LICA-FR 3 140785154 140785154 single base substitution G T upstream_gene_variant LICA-FR 3 140785168 140785168 single base substitution C T synonymous_variant T74T 222C>T LICA-FR 3 140785168 140785168 single base substitution C T upstream_gene_variant LICA-FR 3 140785256 140785256 single base substitution T A missense_variant W104R 310T>A LICA-FR 3 140785256 140785256 single base substitution T A upstream_gene_variant LICA-FR 3 140786482 140786482 single base substitution G A intron_variant LICA-FR 3 140804381 140804381 single base substitution C T intron_variant LICA-FR 3 140831106 140831106 single base substitution T C intron_variant LICA-FR 3 140833704 140833704 single base substitution G T intron_variant LICA-FR 3 140857122 140857122 single base substitution A T intron_variant LIHC-US 3 140785585 140785585 single base substitution G T exon_variant LIHC-US 3 140785585 140785585 single base substitution G T synonymous_variant V213V 639G>T LINC-JP 3 140768298 140768298 single base substitution G T upstream_gene_variant LINC-JP 3 140770980 140770980 single base substitution A C intron_variant LINC-JP 3 140777576 140777576 single base substitution G A intron_variant LINC-JP 3 140785520 140785520 single base substitution G A exon_variant LINC-JP 3 140785520 140785520 single base substitution G A missense_variant V192M 574G>A LINC-JP 3 140785540 140785540 single base substitution C T exon_variant LINC-JP 3 140785540 140785540 single base substitution C T synonymous_variant G198G 594C>T LINC-JP 3 140789394 140789394 single base substitution T A intron_variant LINC-JP 3 140847310 140847310 single base substitution G T intron_variant LINC-JP 3 140847311 140847311 single base substitution G T intron_variant LINC-JP 3 140852691 140852691 single base substitution G C intron_variant LINC-JP 3 140852692 140852692 single base substitution C T intron_variant LINC-JP 3 140862402 140862402 single base substitution T C intron_variant LINC-JP 3 140864687 140864687 single base substitution T G intron_variant LIRI-JP 3 140765831 140765831 single base substitution G A upstream_gene_variant LIRI-JP 3 140766203 140766203 single base substitution C T upstream_gene_variant LIRI-JP 3 140767383 140767383 single base substitution T C upstream_gene_variant LIRI-JP 3 140767929 140767929 single base substitution G A upstream_gene_variant LIRI-JP 3 140768425 140768425 single base substitution C A upstream_gene_variant LIRI-JP 3 140772690 140772690 single base substitution G A intron_variant LIRI-JP 3 140773147 140773147 single base substitution G A intron_variant LIRI-JP 3 140773680 140773680 single base substitution G A intron_variant LIRI-JP 3 140773837 140773837 single base substitution G C intron_variant LIRI-JP 3 140774465 140774465 single base substitution C A intron_variant LIRI-JP 3 140775624 140775624 single base substitution A T intron_variant LIRI-JP 3 140776197 140776197 single base substitution C T intron_variant LIRI-JP 3 140777200 140777200 single base substitution C G intron_variant LIRI-JP 3 140778514 140778514 single base substitution A G intron_variant LIRI-JP 3 140779526 140779526 single base substitution G A intron_variant LIRI-JP 3 140780017 140780017 single base substitution T G intron_variant LIRI-JP 3 140780329 140780329 single base substitution C G intron_variant LIRI-JP 3 140780640 140780640 single base substitution C T intron_variant LIRI-JP 3 140780640 140780640 single base substitution C T upstream_gene_variant LIRI-JP 3 140780908 140780908 single base substitution C T intron_variant LIRI-JP 3 140780908 140780908 single base substitution C T upstream_gene_variant LIRI-JP 3 140782637 140782637 single base substitution A G intron_variant LIRI-JP 3 140782637 140782637 single base substitution A G upstream_gene_variant LIRI-JP 3 140784141 140784141 single base substitution T C intron_variant LIRI-JP 3 140784141 140784141 single base substitution T C upstream_gene_variant LIRI-JP 3 140784323 140784323 single base substitution G T intron_variant LIRI-JP 3 140784323 140784323 single base substitution G T upstream_gene_variant LIRI-JP 3 140784533 140784533 single base substitution T C intron_variant LIRI-JP 3 140784533 140784533 single base substitution T C upstream_gene_variant LIRI-JP 3 140785550 140785550 single base substitution C T exon_variant LIRI-JP 3 140785550 140785550 single base substitution C T stop_gained R202* 604C>T LIRI-JP 3 140785575 140785575 single base substitution A G exon_variant LIRI-JP 3 140785575 140785575 single base substitution A G missense_variant Y210C 629A>G LIRI-JP 3 140785924 140785924 single base substitution G A intron_variant LIRI-JP 3 140786044 140786044 single base substitution A G intron_variant LIRI-JP 3 140786421 140786421 single base substitution T C intron_variant LIRI-JP 3 140786815 140786815 single base substitution C T intron_variant LIRI-JP 3 140789313 140789313 single base substitution C G intron_variant LIRI-JP 3 140790161 140790161 single base substitution T G intron_variant LIRI-JP 3 140792373 140792373 single base substitution A G intron_variant LIRI-JP 3 140792373 140792373 single base substitution A G upstream_gene_variant LIRI-JP 3 140793893 140793893 single base substitution G C intron_variant LIRI-JP 3 140793893 140793893 single base substitution G C upstream_gene_variant LIRI-JP 3 140796001 140796001 single base substitution A G exon_variant LIRI-JP 3 140796001 140796001 single base substitution A G intron_variant LIRI-JP 3 140796001 140796001 single base substitution A G upstream_gene_variant LIRI-JP 3 140796449 140796449 single base substitution G A intron_variant LIRI-JP 3 140796947 140796947 single base substitution C T intron_variant LIRI-JP 3 140797119 140797119 single base substitution G A intron_variant LIRI-JP 3 140797405 140797405 single base substitution A G intron_variant LIRI-JP 3 140797499 140797499 insertion of <=200bp - ATGC intron_variant LIRI-JP 3 140798882 140798882 single base substitution A G intron_variant LIRI-JP 3 140799241 140799241 single base substitution G A downstream_gene_variant LIRI-JP 3 140799241 140799241 single base substitution G A exon_variant LIRI-JP 3 140799241 140799241 single base substitution G A intron_variant LIRI-JP 3 140802076 140802076 single base substitution G A downstream_gene_variant LIRI-JP 3 140802076 140802076 single base substitution G A intron_variant LIRI-JP 3 140802153 140802153 single base substitution T C downstream_gene_variant LIRI-JP 3 140802153 140802153 single base substitution T C intron_variant LIRI-JP 3 140803143 140803143 single base substitution G A downstream_gene_variant LIRI-JP 3 140803143 140803143 single base substitution G A intron_variant LIRI-JP 3 140803353 140803353 single base substitution C T downstream_gene_variant LIRI-JP 3 140803353 140803353 single base substitution C T intron_variant LIRI-JP 3 140804511 140804511 single base substitution G C intron_variant LIRI-JP 3 140805159 140805159 single base substitution C T intron_variant LIRI-JP 3 140805207 140805207 single base substitution C T intron_variant LIRI-JP 3 140805838 140805838 single base substitution C A intron_variant LIRI-JP 3 140805843 140805843 single base substitution G A intron_variant LIRI-JP 3 140806976 140806976 single base substitution G T intron_variant LIRI-JP 3 140808279 140808279 single base substitution T C intron_variant LIRI-JP 3 140809502 140809502 single base substitution G A intron_variant LIRI-JP 3 140810667 140810667 single base substitution G T intron_variant LIRI-JP 3 140810903 140810903 single base substitution A G intron_variant LIRI-JP 3 140811456 140811456 single base substitution C A intron_variant LIRI-JP 3 140811956 140811956 single base substitution G T intron_variant LIRI-JP 3 140812483 140812483 single base substitution T A intron_variant LIRI-JP 3 140814042 140814042 single base substitution T C intron_variant LIRI-JP 3 140815971 140815971 single base substitution G T intron_variant LIRI-JP 3 140816316 140816316 single base substitution T C intron_variant LIRI-JP 3 140816867 140816867 single base substitution T C intron_variant LIRI-JP 3 140817227 140817227 single base substitution T C intron_variant LIRI-JP 3 140817494 140817494 single base substitution T A intron_variant LIRI-JP 3 140818655 140818655 single base substitution G T intron_variant LIRI-JP 3 140818656 140818656 single base substitution G T intron_variant LIRI-JP 3 140821475 140821475 single base substitution T C intron_variant LIRI-JP 3 140822245 140822245 single base substitution A C intron_variant LIRI-JP 3 140826755 140826755 single base substitution C T intron_variant LIRI-JP 3 140828020 140828020 single base substitution T A intron_variant LIRI-JP 3 140828759 140828759 single base substitution T A intron_variant LIRI-JP 3 140831052 140831052 single base substitution G A intron_variant LIRI-JP 3 140831793 140831793 single base substitution T C intron_variant LIRI-JP 3 140833211 140833211 single base substitution C G intron_variant LIRI-JP 3 140834747 140834747 single base substitution A G intron_variant LIRI-JP 3 140836005 140836005 single base substitution T C intron_variant LIRI-JP 3 140836626 140836626 single base substitution G A intron_variant LIRI-JP 3 140836825 140836825 single base substitution T C intron_variant LIRI-JP 3 140836905 140836905 single base substitution C T intron_variant LIRI-JP 3 140837043 140837043 single base substitution T A intron_variant LIRI-JP 3 140837150 140837150 single base substitution C T intron_variant LIRI-JP 3 140837860 140837860 single base substitution T A intron_variant LIRI-JP 3 140838127 140838127 single base substitution T C intron_variant LIRI-JP 3 140838308 140838308 single base substitution A T intron_variant LIRI-JP 3 140838329 140838329 single base substitution T C intron_variant LIRI-JP 3 140838851 140838851 single base substitution G T intron_variant LIRI-JP 3 140838913 140838913 single base substitution T C intron_variant LIRI-JP 3 140839164 140839164 single base substitution T A intron_variant LIRI-JP 3 140840438 140840438 single base substitution A G intron_variant LIRI-JP 3 140840966 140840966 single base substitution T C intron_variant LIRI-JP 3 140841319 140841319 single base substitution T C intron_variant LIRI-JP 3 140842365 140842365 single base substitution C T intron_variant LIRI-JP 3 140844047 140844047 single base substitution A G intron_variant LIRI-JP 3 140844802 140844802 single base substitution T A intron_variant LIRI-JP 3 140846121 140846121 single base substitution A T intron_variant LIRI-JP 3 140846749 140846749 single base substitution T C intron_variant LIRI-JP 3 140846780 140846780 single base substitution C G intron_variant LIRI-JP 3 140848520 140848520 single base substitution T C intron_variant LIRI-JP 3 140848622 140848622 single base substitution T C intron_variant LIRI-JP 3 140850118 140850118 single base substitution C T intron_variant LIRI-JP 3 140851103 140851103 single base substitution G A exon_variant LIRI-JP 3 140851103 140851103 single base substitution G A intron_variant LIRI-JP 3 140851122 140851122 single base substitution G T exon_variant LIRI-JP 3 140851122 140851122 single base substitution G T intron_variant LIRI-JP 3 140851395 140851395 single base substitution T C intron_variant LIRI-JP 3 140851723 140851723 single base substitution T A intron_variant LIRI-JP 3 140851736 140851736 single base substitution T A intron_variant LIRI-JP 3 140856462 140856462 single base substitution T C intron_variant LIRI-JP 3 140856492 140856492 single base substitution T A intron_variant LIRI-JP 3 140860270 140860270 single base substitution T A intron_variant LIRI-JP 3 140860984 140860984 single base substitution A G intron_variant LIRI-JP 3 140862246 140862246 single base substitution G T intron_variant LIRI-JP 3 140864452 140864452 single base substitution G A intron_variant LIRI-JP 3 140866488 140866488 single base substitution C A 3_prime_UTR_variant LIRI-JP 3 140866488 140866488 single base substitution C A downstream_gene_variant LIRI-JP 3 140868960 140868961 deletion of <=200bp TT - downstream_gene_variant LIRI-JP 3 140869135 140869135 single base substitution G A downstream_gene_variant LIRI-JP 3 140870095 140870095 single base substitution T C downstream_gene_variant LIRI-JP 3 140871107 140871107 single base substitution T A downstream_gene_variant LIRI-JP 3 140872258 140872258 single base substitution G A downstream_gene_variant LUSC-KR 3 140766140 140766140 single base substitution C A upstream_gene_variant LUSC-KR 3 140768401 140768401 single base substitution C T upstream_gene_variant LUSC-KR 3 140769120 140769120 single base substitution G T upstream_gene_variant LUSC-KR 3 140773712 140773712 single base substitution C A intron_variant LUSC-KR 3 140774465 140774465 single base substitution C A intron_variant LUSC-KR 3 140775956 140775956 single base substitution G T intron_variant LUSC-KR 3 140777131 140777131 single base substitution G T intron_variant LUSC-KR 3 140777682 140777682 single base substitution G C intron_variant LUSC-KR 3 140788169 140788169 single base substitution T A intron_variant LUSC-KR 3 140789910 140789910 single base substitution G A intron_variant LUSC-KR 3 140790670 140790670 single base substitution G C intron_variant LUSC-KR 3 140792643 140792643 single base substitution C A intron_variant LUSC-KR 3 140792643 140792643 single base substitution C A upstream_gene_variant LUSC-KR 3 140796572 140796572 single base substitution C A intron_variant LUSC-KR 3 140799106 140799106 single base substitution G A intron_variant LUSC-KR 3 140799766 140799766 single base substitution G A downstream_gene_variant LUSC-KR 3 140799766 140799766 single base substitution G A intron_variant LUSC-KR 3 140800230 140800230 single base substitution C A downstream_gene_variant LUSC-KR 3 140800230 140800230 single base substitution C A intron_variant LUSC-KR 3 140800473 140800473 single base substitution G A downstream_gene_variant LUSC-KR 3 140800473 140800473 single base substitution G A intron_variant LUSC-KR 3 140800777 140800777 single base substitution G T downstream_gene_variant LUSC-KR 3 140800777 140800777 single base substitution G T intron_variant LUSC-KR 3 140801277 140801277 single base substitution G T downstream_gene_variant LUSC-KR 3 140801277 140801277 single base substitution G T intron_variant LUSC-KR 3 140801867 140801867 single base substitution C T downstream_gene_variant LUSC-KR 3 140801867 140801867 single base substitution C T intron_variant LUSC-KR 3 140802702 140802702 single base substitution C G downstream_gene_variant LUSC-KR 3 140802702 140802702 single base substitution C G intron_variant LUSC-KR 3 140803324 140803324 single base substitution C T downstream_gene_variant LUSC-KR 3 140803324 140803324 single base substitution C T intron_variant LUSC-KR 3 140806261 140806261 single base substitution G T intron_variant LUSC-KR 3 140806933 140806933 single base substitution C G intron_variant LUSC-KR 3 140810319 140810319 single base substitution G A intron_variant LUSC-KR 3 140810804 140810804 single base substitution G A intron_variant LUSC-KR 3 140813083 140813083 single base substitution G A intron_variant LUSC-KR 3 140817409 140817409 single base substitution T C intron_variant LUSC-KR 3 140819539 140819539 single base substitution C A intron_variant LUSC-KR 3 140823078 140823078 single base substitution C T intron_variant LUSC-KR 3 140825847 140825847 single base substitution G A intron_variant LUSC-KR 3 140832710 140832710 single base substitution G T intron_variant LUSC-KR 3 140832787 140832787 single base substitution A T intron_variant LUSC-KR 3 140838009 140838009 single base substitution G A intron_variant LUSC-KR 3 140838307 140838307 single base substitution A T intron_variant LUSC-KR 3 140839351 140839351 single base substitution G A intron_variant LUSC-KR 3 140840732 140840732 single base substitution A T intron_variant LUSC-KR 3 140841577 140841577 single base substitution G T intron_variant LUSC-KR 3 140843481 140843481 single base substitution G T intron_variant LUSC-KR 3 140846596 140846596 single base substitution C G intron_variant LUSC-KR 3 140846672 140846672 single base substitution A G intron_variant LUSC-KR 3 140846884 140846884 single base substitution G C intron_variant LUSC-KR 3 140848648 140848648 single base substitution G T intron_variant LUSC-KR 3 140850035 140850035 single base substitution G C intron_variant LUSC-KR 3 140851337 140851337 single base substitution C G intron_variant LUSC-KR 3 140851422 140851422 single base substitution A G intron_variant LUSC-KR 3 140851595 140851595 single base substitution A C intron_variant LUSC-KR 3 140853687 140853687 single base substitution G A intron_variant LUSC-KR 3 140859615 140859615 single base substitution G A intron_variant LUSC-KR 3 140860513 140860513 single base substitution G A intron_variant LUSC-KR 3 140861715 140861715 single base substitution G T intron_variant LUSC-KR 3 140862455 140862455 single base substitution T G intron_variant LUSC-KR 3 140866076 140866076 single base substitution C T 3_prime_UTR_variant LUSC-KR 3 140866076 140866076 single base substitution C T exon_variant LUSC-KR 3 140866076 140866076 single base substitution C T missense_variant P263S 787C>T LUSC-KR 3 140867094 140867094 single base substitution A G 3_prime_UTR_variant LUSC-KR 3 140867094 140867094 single base substitution A G downstream_gene_variant LUSC-KR 3 140867653 140867653 single base substitution C T downstream_gene_variant LUSC-KR 3 140869326 140869326 single base substitution G A downstream_gene_variant MALY-DE 3 140771351 140771351 single base substitution A G intron_variant MALY-DE 3 140772421 140772421 single base substitution A C intron_variant MALY-DE 3 140773161 140773161 single base substitution T C intron_variant MALY-DE 3 140775566 140775566 single base substitution A C intron_variant MALY-DE 3 140779987 140779987 single base substitution A T intron_variant MALY-DE 3 140781480 140781480 single base substitution C A intron_variant MALY-DE 3 140781480 140781480 single base substitution C A upstream_gene_variant MALY-DE 3 140783572 140783572 single base substitution A T intron_variant MALY-DE 3 140783572 140783572 single base substitution A T upstream_gene_variant MALY-DE 3 140785138 140785138 single base substitution C T synonymous_variant N64N 192C>T MALY-DE 3 140785138 140785138 single base substitution C T upstream_gene_variant MALY-DE 3 140785608 140785608 single base substitution A G exon_variant MALY-DE 3 140785608 140785608 single base substitution A G missense_variant E221G 662A>G MALY-DE 3 140785720 140785720 single base substitution G A intron_variant MALY-DE 3 140788410 140788410 single base substitution G A intron_variant MALY-DE 3 140790237 140790237 single base substitution C T intron_variant MALY-DE 3 140793668 140793668 single base substitution G A intron_variant MALY-DE 3 140793668 140793668 single base substitution G A upstream_gene_variant MALY-DE 3 140798866 140798866 single base substitution A G intron_variant MALY-DE 3 140809075 140809075 single base substitution T G intron_variant MALY-DE 3 140810902 140810902 single base substitution C T intron_variant MALY-DE 3 140815749 140815749 single base substitution C T intron_variant MALY-DE 3 140815843 140815843 single base substitution C A intron_variant MALY-DE 3 140815950 140815950 single base substitution G T intron_variant MALY-DE 3 140835942 140835942 single base substitution G A intron_variant MALY-DE 3 140835957 140835957 single base substitution T G intron_variant MALY-DE 3 140838401 140838401 single base substitution G C intron_variant MALY-DE 3 140848597 140848597 single base substitution G C intron_variant MALY-DE 3 140852930 140852930 single base substitution A G intron_variant MALY-DE 3 140855574 140855574 single base substitution G C intron_variant MALY-DE 3 140871925 140871925 deletion of <=200bp A - downstream_gene_variant MELA-AU 3 140765325 140765325 single base substitution C T upstream_gene_variant MELA-AU 3 140765357 140765357 single base substitution G A upstream_gene_variant MELA-AU 3 140765403 140765403 single base substitution G A upstream_gene_variant MELA-AU 3 140765442 140765442 single base substitution G A upstream_gene_variant MELA-AU 3 140765577 140765577 single base substitution C T upstream_gene_variant MELA-AU 3 140765745 140765745 single base substitution C T upstream_gene_variant MELA-AU 3 140765762 140765762 single base substitution C T upstream_gene_variant MELA-AU 3 140765842 140765842 single base substitution T G upstream_gene_variant MELA-AU 3 140765885 140765885 single base substitution C T upstream_gene_variant MELA-AU 3 140766017 140766017 single base substitution G A upstream_gene_variant MELA-AU 3 140766050 140766050 single base substitution C T upstream_gene_variant MELA-AU 3 140766101 140766101 single base substitution C T upstream_gene_variant MELA-AU 3 140766182 140766182 single base substitution G A upstream_gene_variant MELA-AU 3 140766319 140766319 single base substitution C T upstream_gene_variant MELA-AU 3 140766429 140766429 single base substitution C T upstream_gene_variant MELA-AU 3 140766482 140766482 single base substitution G A upstream_gene_variant MELA-AU 3 140766483 140766483 single base substitution G A upstream_gene_variant MELA-AU 3 140766683 140766683 single base substitution G A upstream_gene_variant MELA-AU 3 140766790 140766790 single base substitution G A upstream_gene_variant MELA-AU 3 140766826 140766826 single base substitution G A upstream_gene_variant MELA-AU 3 140766847 140766847 single base substitution C T upstream_gene_variant MELA-AU 3 140767501 140767501 single base substitution G A upstream_gene_variant MELA-AU 3 140768046 140768046 single base substitution C T upstream_gene_variant MELA-AU 3 140768090 140768090 single base substitution G A upstream_gene_variant MELA-AU 3 140768090 140768091 multiple base substitution (>=2bp and <=200bp) GG AA upstream_gene_variant MELA-AU 3 140768312 140768312 single base substitution A T upstream_gene_variant MELA-AU 3 140768498 140768498 single base substitution G A upstream_gene_variant MELA-AU 3 140768632 140768632 single base substitution G A upstream_gene_variant MELA-AU 3 140769114 140769114 single base substitution C T upstream_gene_variant MELA-AU 3 140769793 140769793 single base substitution C T upstream_gene_variant MELA-AU 3 140770148 140770148 single base substitution C T upstream_gene_variant MELA-AU 3 140770796 140770796 single base substitution G A 5_prime_UTR_variant MELA-AU 3 140770961 140770961 single base substitution C T intron_variant MELA-AU 3 140771198 140771198 single base substitution G A intron_variant MELA-AU 3 140771250 140771250 single base substitution C T intron_variant MELA-AU 3 140771554 140771554 single base substitution G A intron_variant MELA-AU 3 140771696 140771696 single base substitution G A intron_variant MELA-AU 3 140771706 140771706 single base substitution C T intron_variant MELA-AU 3 140772036 140772036 single base substitution C T intron_variant MELA-AU 3 140772658 140772658 single base substitution C T intron_variant MELA-AU 3 140772741 140772741 single base substitution C T intron_variant MELA-AU 3 140772750 140772750 single base substitution C T intron_variant MELA-AU 3 140772838 140772838 single base substitution C T intron_variant MELA-AU 3 140772918 140772918 single base substitution G T intron_variant MELA-AU 3 140772966 140772966 single base substitution G A intron_variant MELA-AU 3 140773550 140773550 single base substitution G C intron_variant MELA-AU 3 140773726 140773726 single base substitution G A intron_variant MELA-AU 3 140773733 140773733 single base substitution G A intron_variant MELA-AU 3 140773740 140773740 single base substitution G A intron_variant MELA-AU 3 140773796 140773796 single base substitution G A intron_variant MELA-AU 3 140773971 140773971 single base substitution T C intron_variant MELA-AU 3 140774123 140774123 single base substitution C A intron_variant MELA-AU 3 140774256 140774256 single base substitution C T intron_variant MELA-AU 3 140774533 140774533 single base substitution G A intron_variant MELA-AU 3 140774934 140774934 single base substitution G A intron_variant MELA-AU 3 140774951 140774951 single base substitution G A intron_variant MELA-AU 3 140775170 140775170 single base substitution T C intron_variant MELA-AU 3 140775274 140775274 single base substitution C T intron_variant MELA-AU 3 140775450 140775450 single base substitution T C intron_variant MELA-AU 3 140775512 140775512 single base substitution C T intron_variant MELA-AU 3 140775520 140775520 single base substitution G A intron_variant MELA-AU 3 140775553 140775553 single base substitution C T intron_variant MELA-AU 3 140775694 140775694 single base substitution C G intron_variant MELA-AU 3 140775769 140775769 single base substitution C T intron_variant MELA-AU 3 140775836 140775836 single base substitution C T intron_variant MELA-AU 3 140776064 140776064 single base substitution C T intron_variant MELA-AU 3 140776393 140776393 single base substitution C A intron_variant MELA-AU 3 140776430 140776431 multiple base substitution (>=2bp and <=200bp) CC TT intron_variant MELA-AU 3 140776431 140776431 single base substitution C T intron_variant MELA-AU 3 140776469 140776469 single base substitution G A intron_variant MELA-AU 3 140776549 140776549 single base substitution C T intron_variant MELA-AU 3 140777046 140777046 single base substitution G A intron_variant MELA-AU 3 140777089 140777090 multiple base substitution (>=2bp and <=200bp) AC TT intron_variant MELA-AU 3 140777124 140777124 single base substitution C T intron_variant MELA-AU 3 140777366 140777366 single base substitution C T intron_variant MELA-AU 3 140777467 140777467 single base substitution C T intron_variant MELA-AU 3 140777576 140777576 single base substitution G A intron_variant MELA-AU 3 140777861 140777861 single base substitution G A intron_variant MELA-AU 3 140778029 140778029 single base substitution G A intron_variant MELA-AU 3 140778844 140778844 single base substitution C T intron_variant MELA-AU 3 140778861 140778861 single base substitution T C intron_variant MELA-AU 3 140778866 140778866 single base substitution G A intron_variant MELA-AU 3 140778945 140778945 single base substitution C T intron_variant MELA-AU 3 140779380 140779380 single base substitution G A intron_variant MELA-AU 3 140779574 140779574 single base substitution C T intron_variant MELA-AU 3 140779841 140779841 single base substitution C T intron_variant MELA-AU 3 140779916 140779916 single base substitution C T intron_variant MELA-AU 3 140780095 140780095 single base substitution A G intron_variant MELA-AU 3 140780263 140780263 single base substitution T A intron_variant MELA-AU 3 140780460 140780460 single base substitution A T intron_variant MELA-AU 3 140780501 140780501 single base substitution C T intron_variant MELA-AU 3 140780501 140780501 single base substitution C T upstream_gene_variant MELA-AU 3 140780641 140780641 single base substitution G A intron_variant MELA-AU 3 140780641 140780641 single base substitution G A upstream_gene_variant MELA-AU 3 140780886 140780886 single base substitution C T intron_variant MELA-AU 3 140780886 140780886 single base substitution C T upstream_gene_variant MELA-AU 3 140780942 140780942 single base substitution C T intron_variant MELA-AU 3 140780942 140780942 single base substitution C T upstream_gene_variant MELA-AU 3 140780973 140780973 single base substitution C T intron_variant MELA-AU 3 140780973 140780973 single base substitution C T upstream_gene_variant MELA-AU 3 140781044 140781044 single base substitution C T intron_variant MELA-AU 3 140781044 140781044 single base substitution C T upstream_gene_variant MELA-AU 3 140781065 140781065 single base substitution G A intron_variant MELA-AU 3 140781065 140781065 single base substitution G A upstream_gene_variant MELA-AU 3 140781572 140781572 single base substitution C T intron_variant MELA-AU 3 140781572 140781572 single base substitution C T upstream_gene_variant MELA-AU 3 140781885 140781885 single base substitution T G intron_variant MELA-AU 3 140781885 140781885 single base substitution T G upstream_gene_variant MELA-AU 3 140782010 140782010 single base substitution G A intron_variant MELA-AU 3 140782010 140782010 single base substitution G A upstream_gene_variant MELA-AU 3 140782044 140782044 single base substitution C T intron_variant MELA-AU 3 140782044 140782044 single base substitution C T upstream_gene_variant MELA-AU 3 140782135 140782135 single base substitution G A intron_variant MELA-AU 3 140782135 140782135 single base substitution G A upstream_gene_variant MELA-AU 3 140782328 140782328 single base substitution C T intron_variant MELA-AU 3 140782328 140782328 single base substitution C T upstream_gene_variant MELA-AU 3 140782388 140782388 single base substitution G A intron_variant MELA-AU 3 140782388 140782388 single base substitution G A upstream_gene_variant MELA-AU 3 140782538 140782538 single base substitution C T intron_variant MELA-AU 3 140782538 140782538 single base substitution C T upstream_gene_variant MELA-AU 3 140782633 140782633 single base substitution G A intron_variant MELA-AU 3 140782633 140782633 single base substitution G A upstream_gene_variant MELA-AU 3 140782875 140782876 multiple base substitution (>=2bp and <=200bp) CC TT intron_variant MELA-AU 3 140782875 140782876 multiple base substitution (>=2bp and <=200bp) CC TT upstream_gene_variant MELA-AU 3 140782917 140782917 single base substitution C T intron_variant MELA-AU 3 140782917 140782917 single base substitution C T upstream_gene_variant MELA-AU 3 140782925 140782925 single base substitution C T intron_variant MELA-AU 3 140782925 140782925 single base substitution C T upstream_gene_variant MELA-AU 3 140782957 140782957 single base substitution C T intron_variant MELA-AU 3 140782957 140782957 single base substitution C T upstream_gene_variant MELA-AU 3 140783053 140783053 single base substitution G A intron_variant MELA-AU 3 140783053 140783053 single base substitution G A upstream_gene_variant MELA-AU 3 140783372 140783372 single base substitution G A intron_variant MELA-AU 3 140783372 140783372 single base substitution G A upstream_gene_variant MELA-AU 3 140783434 140783434 single base substitution C T intron_variant MELA-AU 3 140783434 140783434 single base substitution C T upstream_gene_variant MELA-AU 3 140783504 140783504 single base substitution G A intron_variant MELA-AU 3 140783504 140783504 single base substitution G A upstream_gene_variant MELA-AU 3 140783681 140783681 single base substitution C T intron_variant MELA-AU 3 140783681 140783681 single base substitution C T upstream_gene_variant MELA-AU 3 140783886 140783886 single base substitution G A intron_variant MELA-AU 3 140783886 140783886 single base substitution G A upstream_gene_variant MELA-AU 3 140784126 140784126 single base substitution C T intron_variant MELA-AU 3 140784126 140784126 single base substitution C T upstream_gene_variant MELA-AU 3 140784350 140784350 single base substitution C T intron_variant MELA-AU 3 140784350 140784350 single base substitution C T upstream_gene_variant MELA-AU 3 140784443 140784443 single base substitution G A intron_variant MELA-AU 3 140784443 140784443 single base substitution G A upstream_gene_variant MELA-AU 3 140784514 140784514 single base substitution C T intron_variant MELA-AU 3 140784514 140784514 single base substitution C T upstream_gene_variant MELA-AU 3 140784522 140784522 single base substitution C T intron_variant MELA-AU 3 140784522 140784522 single base substitution C T upstream_gene_variant MELA-AU 3 140784735 140784736 multiple base substitution (>=2bp and <=200bp) GG AA intron_variant MELA-AU 3 140784735 140784736 multiple base substitution (>=2bp and <=200bp) GG AA upstream_gene_variant MELA-AU 3 140784761 140784761 single base substitution C T intron_variant MELA-AU 3 140784761 140784761 single base substitution C T upstream_gene_variant MELA-AU 3 140784771 140784771 single base substitution C T intron_variant MELA-AU 3 140784771 140784771 single base substitution C T upstream_gene_variant MELA-AU 3 140784794 140784794 single base substitution G A splice_region_variant MELA-AU 3 140784794 140784794 single base substitution G A upstream_gene_variant MELA-AU 3 140784904 140784904 single base substitution G A 5_prime_UTR_variant MELA-AU 3 140784904 140784904 single base substitution G A upstream_gene_variant MELA-AU 3 140785004 140785004 single base substitution C T missense_variant R20W 58C>T MELA-AU 3 140785004 140785004 single base substitution C T upstream_gene_variant MELA-AU 3 140785182 140785182 single base substitution C T missense_variant P79L 236C>T MELA-AU 3 140785182 140785182 single base substitution C T upstream_gene_variant MELA-AU 3 140785400 140785400 single base substitution G A missense_variant D152N 454G>A MELA-AU 3 140785400 140785400 single base substitution G A upstream_gene_variant MELA-AU 3 140785840 140785840 single base substitution G A intron_variant MELA-AU 3 140785852 140785852 single base substitution C T intron_variant MELA-AU 3 140786045 140786045 single base substitution G A intron_variant MELA-AU 3 140786153 140786153 single base substitution G A intron_variant MELA-AU 3 140786225 140786225 single base substitution C T intron_variant MELA-AU 3 140786326 140786326 single base substitution G A intron_variant MELA-AU 3 140786514 140786514 single base substitution G A intron_variant MELA-AU 3 140786536 140786536 single base substitution C T intron_variant MELA-AU 3 140786740 140786740 single base substitution C A intron_variant MELA-AU 3 140786770 140786770 single base substitution A G intron_variant MELA-AU 3 140786818 140786818 single base substitution C A intron_variant MELA-AU 3 140787055 140787055 single base substitution C T intron_variant MELA-AU 3 140787146 140787146 deletion of <=200bp T - intron_variant MELA-AU 3 140787173 140787173 single base substitution C T intron_variant MELA-AU 3 140787210 140787211 multiple base substitution (>=2bp and <=200bp) GG AA intron_variant MELA-AU 3 140787593 140787593 single base substitution C T intron_variant MELA-AU 3 140787921 140787921 single base substitution G A intron_variant MELA-AU 3 140787943 140787943 single base substitution C T intron_variant MELA-AU 3 140788098 140788098 single base substitution C T intron_variant MELA-AU 3 140788337 140788337 single base substitution A T intron_variant MELA-AU 3 140788384 140788384 single base substitution G A intron_variant MELA-AU 3 140788420 140788420 single base substitution C T intron_variant MELA-AU 3 140788422 140788422 single base substitution C A intron_variant MELA-AU 3 140788846 140788846 single base substitution C T intron_variant MELA-AU 3 140789207 140789207 single base substitution C T intron_variant MELA-AU 3 140789271 140789271 single base substitution C T intron_variant MELA-AU 3 140789282 140789282 single base substitution C T intron_variant MELA-AU 3 140789537 140789537 deletion of <=200bp T - intron_variant MELA-AU 3 140789750 140789750 single base substitution T G intron_variant MELA-AU 3 140789816 140789816 single base substitution G A intron_variant MELA-AU 3 140790051 140790051 single base substitution G A intron_variant MELA-AU 3 140790238 140790238 single base substitution C T intron_variant MELA-AU 3 140790338 140790338 single base substitution C T intron_variant MELA-AU 3 140790361 140790361 single base substitution T C intron_variant MELA-AU 3 140790808 140790808 single base substitution C T intron_variant MELA-AU 3 140790808 140790808 single base substitution C T upstream_gene_variant MELA-AU 3 140790946 140790946 single base substitution C T intron_variant MELA-AU 3 140790946 140790946 single base substitution C T upstream_gene_variant MELA-AU 3 140791100 140791100 single base substitution G A intron_variant MELA-AU 3 140791100 140791100 single base substitution G A upstream_gene_variant MELA-AU 3 140791126 140791126 single base substitution G A intron_variant MELA-AU 3 140791126 140791126 single base substitution G A upstream_gene_variant MELA-AU 3 140791296 140791296 single base substitution C T intron_variant MELA-AU 3 140791296 140791296 single base substitution C T upstream_gene_variant MELA-AU 3 140791568 140791568 single base substitution C T intron_variant MELA-AU 3 140791568 140791568 single base substitution C T upstream_gene_variant MELA-AU 3 140791648 140791648 single base substitution C T intron_variant MELA-AU 3 140791648 140791648 single base substitution C T upstream_gene_variant MELA-AU 3 140791666 140791666 single base substitution C T intron_variant MELA-AU 3 140791666 140791666 single base substitution C T upstream_gene_variant MELA-AU 3 140791769 140791769 single base substitution C T intron_variant MELA-AU 3 140791769 140791769 single base substitution C T upstream_gene_variant MELA-AU 3 140792360 140792360 single base substitution G A intron_variant MELA-AU 3 140792360 140792360 single base substitution G A upstream_gene_variant MELA-AU 3 140792624 140792624 single base substitution C T intron_variant MELA-AU 3 140792624 140792624 single base substitution C T upstream_gene_variant MELA-AU 3 140792801 140792801 single base substitution C T intron_variant MELA-AU 3 140792801 140792801 single base substitution C T upstream_gene_variant MELA-AU 3 140792934 140792934 single base substitution C T intron_variant MELA-AU 3 140792934 140792934 single base substitution C T upstream_gene_variant MELA-AU 3 140792974 140792974 single base substitution G A intron_variant MELA-AU 3 140792974 140792974 single base substitution G A upstream_gene_variant MELA-AU 3 140793126 140793126 single base substitution C T intron_variant MELA-AU 3 140793126 140793126 single base substitution C T upstream_gene_variant MELA-AU 3 140793177 140793177 single base substitution T C intron_variant MELA-AU 3 140793177 140793177 single base substitution T C upstream_gene_variant MELA-AU 3 140793389 140793389 single base substitution G A intron_variant MELA-AU 3 140793389 140793389 single base substitution G A upstream_gene_variant MELA-AU 3 140793825 140793825 single base substitution G A intron_variant MELA-AU 3 140793825 140793825 single base substitution G A upstream_gene_variant MELA-AU 3 140793902 140793902 single base substitution C T intron_variant MELA-AU 3 140793902 140793902 single base substitution C T upstream_gene_variant MELA-AU 3 140793916 140793916 single base substitution C T intron_variant MELA-AU 3 140793916 140793916 single base substitution C T upstream_gene_variant MELA-AU 3 140793932 140793932 single base substitution C T intron_variant MELA-AU 3 140793932 140793932 single base substitution C T upstream_gene_variant MELA-AU 3 140794288 140794288 single base substitution C T intron_variant MELA-AU 3 140794288 140794288 single base substitution C T upstream_gene_variant MELA-AU 3 140794297 140794297 single base substitution G T intron_variant MELA-AU 3 140794297 140794297 single base substitution G T upstream_gene_variant MELA-AU 3 140794519 140794520 multiple base substitution (>=2bp and <=200bp) CC TT intron_variant MELA-AU 3 140794519 140794520 multiple base substitution (>=2bp and <=200bp) CC TT upstream_gene_variant MELA-AU 3 140795559 140795559 single base substitution C T intron_variant MELA-AU 3 140795559 140795559 single base substitution C T upstream_gene_variant MELA-AU 3 140795783 140795783 single base substitution G A intron_variant MELA-AU 3 140795783 140795783 single base substitution G A upstream_gene_variant MELA-AU 3 140796537 140796537 single base substitution G A intron_variant MELA-AU 3 140796796 140796796 single base substitution C T intron_variant MELA-AU 3 140796844 140796844 single base substitution C T intron_variant MELA-AU 3 140796995 140796995 single base substitution T C intron_variant MELA-AU 3 140797192 140797192 single base substitution C T intron_variant MELA-AU 3 140797345 140797345 single base substitution G A intron_variant MELA-AU 3 140797395 140797395 single base substitution C T intron_variant MELA-AU 3 140797613 140797613 single base substitution C T intron_variant MELA-AU 3 140797973 140797973 single base substitution G A intron_variant MELA-AU 3 140798018 140798018 single base substitution G A intron_variant MELA-AU 3 140798218 140798218 single base substitution G A intron_variant MELA-AU 3 140798280 140798280 single base substitution C T intron_variant MELA-AU 3 140798315 140798315 single base substitution G A intron_variant MELA-AU 3 140798414 140798414 single base substitution C T intron_variant MELA-AU 3 140798633 140798634 multiple base substitution (>=2bp and <=200bp) CC TT intron_variant MELA-AU 3 140798636 140798636 single base substitution C T intron_variant MELA-AU 3 140799303 140799303 single base substitution C T downstream_gene_variant MELA-AU 3 140799303 140799303 single base substitution C T intron_variant MELA-AU 3 140799417 140799417 single base substitution G A downstream_gene_variant MELA-AU 3 140799417 140799417 single base substitution G A intron_variant MELA-AU 3 140799771 140799771 single base substitution C T downstream_gene_variant MELA-AU 3 140799771 140799771 single base substitution C T intron_variant MELA-AU 3 140799824 140799824 single base substitution G A downstream_gene_variant MELA-AU 3 140799824 140799824 single base substitution G A intron_variant MELA-AU 3 140799870 140799870 single base substitution G A downstream_gene_variant MELA-AU 3 140799870 140799870 single base substitution G A intron_variant MELA-AU 3 140799897 140799897 single base substitution C T downstream_gene_variant MELA-AU 3 140799897 140799897 single base substitution C T intron_variant MELA-AU 3 140799910 140799910 single base substitution C T downstream_gene_variant MELA-AU 3 140799910 140799910 single base substitution C T intron_variant MELA-AU 3 140799914 140799914 single base substitution G A downstream_gene_variant MELA-AU 3 140799914 140799914 single base substitution G A intron_variant MELA-AU 3 140800257 140800257 single base substitution C T downstream_gene_variant MELA-AU 3 140800257 140800257 single base substitution C T intron_variant MELA-AU 3 140800434 140800434 single base substitution G A downstream_gene_variant MELA-AU 3 140800434 140800434 single base substitution G A intron_variant MELA-AU 3 140800588 140800588 single base substitution C T downstream_gene_variant MELA-AU 3 140800588 140800588 single base substitution C T intron_variant MELA-AU 3 140800709 140800709 single base substitution C T downstream_gene_variant MELA-AU 3 140800709 140800709 single base substitution C T intron_variant MELA-AU 3 140800911 140800911 single base substitution C T downstream_gene_variant MELA-AU 3 140800911 140800911 single base substitution C T intron_variant MELA-AU 3 140800974 140800974 single base substitution C T downstream_gene_variant MELA-AU 3 140800974 140800974 single base substitution C T intron_variant MELA-AU 3 140801039 140801039 single base substitution C T downstream_gene_variant MELA-AU 3 140801039 140801039 single base substitution C T intron_variant MELA-AU 3 140801454 140801454 single base substitution C T downstream_gene_variant MELA-AU 3 140801454 140801454 single base substitution C T intron_variant MELA-AU 3 140801584 140801584 single base substitution G A downstream_gene_variant MELA-AU 3 140801584 140801584 single base substitution G A intron_variant MELA-AU 3 140801589 140801589 single base substitution G A downstream_gene_variant MELA-AU 3 140801589 140801589 single base substitution G A intron_variant MELA-AU 3 140801637 140801637 single base substitution G A downstream_gene_variant MELA-AU 3 140801637 140801637 single base substitution G A intron_variant MELA-AU 3 140801689 140801689 single base substitution C T downstream_gene_variant MELA-AU 3 140801689 140801689 single base substitution C T intron_variant MELA-AU 3 140801916 140801916 single base substitution A T downstream_gene_variant MELA-AU 3 140801916 140801916 single base substitution A T intron_variant MELA-AU 3 140802196 140802196 deletion of <=200bp C - downstream_gene_variant MELA-AU 3 140802196 140802196 deletion of <=200bp C - intron_variant MELA-AU 3 140802274 140802274 single base substitution C T downstream_gene_variant MELA-AU 3 140802274 140802274 single base substitution C T intron_variant MELA-AU 3 140802279 140802279 single base substitution C T downstream_gene_variant MELA-AU 3 140802279 140802279 single base substitution C T intron_variant MELA-AU 3 140802577 140802577 single base substitution C T downstream_gene_variant MELA-AU 3 140802577 140802577 single base substitution C T intron_variant MELA-AU 3 140802659 140802660 multiple base substitution (>=2bp and <=200bp) CC TT downstream_gene_variant MELA-AU 3 140802659 140802660 multiple base substitution (>=2bp and <=200bp) CC TT intron_variant MELA-AU 3 140802735 140802735 single base substitution C T downstream_gene_variant MELA-AU 3 140802735 140802735 single base substitution C T intron_variant MELA-AU 3 140802809 140802809 single base substitution G T downstream_gene_variant MELA-AU 3 140802809 140802809 single base substitution G T intron_variant MELA-AU 3 140802922 140802922 single base substitution G A downstream_gene_variant MELA-AU 3 140802922 140802922 single base substitution G A intron_variant MELA-AU 3 140803321 140803321 single base substitution C T downstream_gene_variant MELA-AU 3 140803321 140803321 single base substitution C T intron_variant MELA-AU 3 140803435 140803435 single base substitution G A downstream_gene_variant MELA-AU 3 140803435 140803435 single base substitution G A intron_variant MELA-AU 3 140803868 140803868 single base substitution C T downstream_gene_variant MELA-AU 3 140803868 140803868 single base substitution C T intron_variant MELA-AU 3 140804004 140804005 multiple base substitution (>=2bp and <=200bp) GG CA downstream_gene_variant MELA-AU 3 140804004 140804005 multiple base substitution (>=2bp and <=200bp) GG CA intron_variant MELA-AU 3 140804095 140804095 single base substitution G A downstream_gene_variant MELA-AU 3 140804095 140804095 single base substitution G A intron_variant MELA-AU 3 140804142 140804142 single base substitution G A downstream_gene_variant MELA-AU 3 140804142 140804142 single base substitution G A intron_variant MELA-AU 3 140804274 140804274 single base substitution C T intron_variant MELA-AU 3 140804278 140804278 single base substitution C T intron_variant MELA-AU 3 140804363 140804363 single base substitution G A intron_variant MELA-AU 3 140804669 140804669 single base substitution G T intron_variant MELA-AU 3 140804683 140804683 single base substitution C T intron_variant MELA-AU 3 140805058 140805058 single base substitution C T intron_variant MELA-AU 3 140805059 140805059 single base substitution C T intron_variant MELA-AU 3 140805089 140805089 single base substitution C T intron_variant MELA-AU 3 140805153 140805153 single base substitution G A intron_variant MELA-AU 3 140805233 140805233 single base substitution C T intron_variant MELA-AU 3 140805269 140805269 single base substitution C T intron_variant MELA-AU 3 140805613 140805613 single base substitution C T intron_variant MELA-AU 3 140805748 140805748 single base substitution G A intron_variant MELA-AU 3 140805786 140805786 single base substitution C T intron_variant MELA-AU 3 140805862 140805862 single base substitution G C intron_variant MELA-AU 3 140806346 140806346 single base substitution G A intron_variant MELA-AU 3 140806365 140806365 single base substitution C T intron_variant MELA-AU 3 140806511 140806511 single base substitution G A intron_variant MELA-AU 3 140806606 140806606 single base substitution G A intron_variant MELA-AU 3 140807005 140807005 single base substitution C T intron_variant MELA-AU 3 140807089 140807089 single base substitution G A intron_variant MELA-AU 3 140807294 140807294 single base substitution C T intron_variant MELA-AU 3 140807471 140807471 single base substitution G A intron_variant MELA-AU 3 140807505 140807505 single base substitution C T intron_variant MELA-AU 3 140807508 140807508 single base substitution C T intron_variant MELA-AU 3 140808169 140808169 single base substitution C T intron_variant MELA-AU 3 140808467 140808467 single base substitution C T intron_variant MELA-AU 3 140808586 140808586 single base substitution T C intron_variant MELA-AU 3 140808614 140808614 single base substitution C T intron_variant MELA-AU 3 140808829 140808829 single base substitution C T intron_variant MELA-AU 3 140808832 140808832 single base substitution C T intron_variant MELA-AU 3 140808893 140808893 single base substitution G A intron_variant MELA-AU 3 140808970 140808970 single base substitution T A intron_variant MELA-AU 3 140809017 140809017 single base substitution C T intron_variant MELA-AU 3 140809279 140809279 single base substitution G A intron_variant MELA-AU 3 140809287 140809287 single base substitution G A intron_variant MELA-AU 3 140809519 140809519 single base substitution G A intron_variant MELA-AU 3 140809673 140809673 single base substitution G A intron_variant MELA-AU 3 140809713 140809713 single base substitution G A intron_variant MELA-AU 3 140809825 140809825 single base substitution G A intron_variant MELA-AU 3 140809890 140809890 single base substitution G A intron_variant MELA-AU 3 140810044 140810044 single base substitution C T intron_variant MELA-AU 3 140810099 140810099 single base substitution G C intron_variant MELA-AU 3 140810160 140810160 single base substitution C T intron_variant MELA-AU 3 140810593 140810593 single base substitution C T intron_variant MELA-AU 3 140810611 140810612 multiple base substitution (>=2bp and <=200bp) GG AA intron_variant MELA-AU 3 140810642 140810642 single base substitution C T intron_variant MELA-AU 3 140810715 140810715 single base substitution C T intron_variant MELA-AU 3 140810863 140810863 single base substitution G A intron_variant MELA-AU 3 140810997 140810997 single base substitution G A intron_variant MELA-AU 3 140811029 140811029 single base substitution C T intron_variant MELA-AU 3 140811058 140811058 single base substitution G A intron_variant MELA-AU 3 140811218 140811218 single base substitution A G intron_variant MELA-AU 3 140811718 140811718 single base substitution G A intron_variant MELA-AU 3 140811753 140811753 single base substitution C T intron_variant MELA-AU 3 140812410 140812410 single base substitution G A intron_variant MELA-AU 3 140812423 140812423 single base substitution G A intron_variant MELA-AU 3 140812802 140812802 single base substitution T C intron_variant MELA-AU 3 140813032 140813032 single base substitution C T intron_variant MELA-AU 3 140813197 140813197 single base substitution C T intron_variant MELA-AU 3 140813704 140813704 single base substitution C T intron_variant MELA-AU 3 140814012 140814012 single base substitution A C intron_variant MELA-AU 3 140814149 140814149 single base substitution A C intron_variant MELA-AU 3 140814185 140814185 single base substitution G C intron_variant MELA-AU 3 140814194 140814194 single base substitution C A intron_variant MELA-AU 3 140814497 140814497 single base substitution C T intron_variant MELA-AU 3 140814837 140814837 single base substitution C T intron_variant MELA-AU 3 140814910 140814910 single base substitution G A intron_variant MELA-AU 3 140815064 140815064 single base substitution G A intron_variant MELA-AU 3 140815148 140815148 single base substitution C T intron_variant MELA-AU 3 140815314 140815314 single base substitution C T intron_variant MELA-AU 3 140815350 140815350 single base substitution A T intron_variant MELA-AU 3 140815441 140815441 single base substitution C T intron_variant MELA-AU 3 140815676 140815676 single base substitution C T intron_variant MELA-AU 3 140815679 140815679 single base substitution C T intron_variant MELA-AU 3 140816103 140816103 single base substitution C T intron_variant MELA-AU 3 140816136 140816137 multiple base substitution (>=2bp and <=200bp) GG AA intron_variant MELA-AU 3 140816303 140816303 single base substitution T C intron_variant MELA-AU 3 140816621 140816621 single base substitution G A intron_variant MELA-AU 3 140816786 140816786 single base substitution C T intron_variant MELA-AU 3 140816986 140816986 single base substitution C T intron_variant MELA-AU 3 140817036 140817036 single base substitution C T intron_variant MELA-AU 3 140817099 140817099 single base substitution C T intron_variant MELA-AU 3 140817152 140817152 single base substitution C T intron_variant MELA-AU 3 140817162 140817162 single base substitution C T intron_variant MELA-AU 3 140817319 140817319 single base substitution A G intron_variant MELA-AU 3 140817435 140817435 single base substitution G A intron_variant MELA-AU 3 140817653 140817653 single base substitution C T intron_variant MELA-AU 3 140817769 140817769 single base substitution G A intron_variant MELA-AU 3 140817779 140817779 single base substitution C T intron_variant MELA-AU 3 140817799 140817799 single base substitution G A intron_variant MELA-AU 3 140817856 140817857 multiple base substitution (>=2bp and <=200bp) CC TT intron_variant MELA-AU 3 140818015 140818015 single base substitution G A intron_variant MELA-AU 3 140818255 140818255 single base substitution T G intron_variant MELA-AU 3 140818544 140818544 single base substitution G A intron_variant MELA-AU 3 140818884 140818884 single base substitution C T intron_variant MELA-AU 3 140818913 140818913 single base substitution C T intron_variant MELA-AU 3 140819042 140819042 single base substitution G A intron_variant MELA-AU 3 140819108 140819108 single base substitution T C intron_variant MELA-AU 3 140819202 140819202 single base substitution G A intron_variant MELA-AU 3 140819218 140819218 single base substitution G A intron_variant MELA-AU 3 140819849 140819849 single base substitution G A intron_variant MELA-AU 3 140819953 140819953 single base substitution C T intron_variant MELA-AU 3 140820046 140820046 single base substitution C T intron_variant MELA-AU 3 140820299 140820299 single base substitution G A intron_variant MELA-AU 3 140820512 140820512 single base substitution C T intron_variant MELA-AU 3 140820834 140820834 single base substitution C T intron_variant MELA-AU 3 140820875 140820875 single base substitution C T intron_variant MELA-AU 3 140821007 140821007 single base substitution C T intron_variant MELA-AU 3 140821133 140821133 single base substitution G A intron_variant MELA-AU 3 140821205 140821205 single base substitution A T intron_variant MELA-AU 3 140821338 140821338 single base substitution G A intron_variant MELA-AU 3 140821716 140821716 single base substitution C T intron_variant MELA-AU 3 140821806 140821806 single base substitution C T intron_variant MELA-AU 3 140821807 140821807 single base substitution C T intron_variant MELA-AU 3 140821814 140821814 single base substitution G A intron_variant MELA-AU 3 140821817 140821817 single base substitution G A intron_variant MELA-AU 3 140821963 140821963 single base substitution C T intron_variant MELA-AU 3 140821965 140821965 single base substitution C A intron_variant MELA-AU 3 140822020 140822020 single base substitution T A intron_variant MELA-AU 3 140822038 140822038 single base substitution C T intron_variant MELA-AU 3 140822221 140822221 single base substitution C T intron_variant MELA-AU 3 140822706 140822706 single base substitution C T intron_variant MELA-AU 3 140822752 140822752 single base substitution G A intron_variant MELA-AU 3 140822947 140822947 single base substitution C T intron_variant MELA-AU 3 140822988 140822988 single base substitution A C intron_variant MELA-AU 3 140823028 140823028 single base substitution C T intron_variant MELA-AU 3 140823219 140823219 single base substitution C T intron_variant MELA-AU 3 140823596 140823596 single base substitution G A intron_variant MELA-AU 3 140823615 140823615 single base substitution C T intron_variant MELA-AU 3 140823685 140823686 multiple base substitution (>=2bp and <=200bp) CC TT intron_variant MELA-AU 3 140823693 140823693 single base substitution G A intron_variant MELA-AU 3 140823722 140823722 single base substitution C T intron_variant MELA-AU 3 140823789 140823789 single base substitution C T intron_variant MELA-AU 3 140823803 140823803 single base substitution G A intron_variant MELA-AU 3 140823812 140823812 single base substitution C T intron_variant MELA-AU 3 140823971 140823971 single base substitution C T intron_variant MELA-AU 3 140824107 140824107 single base substitution T C intron_variant MELA-AU 3 140824191 140824192 multiple base substitution (>=2bp and <=200bp) CC TA intron_variant MELA-AU 3 140824311 140824311 single base substitution C T intron_variant MELA-AU 3 140824697 140824697 single base substitution C T intron_variant MELA-AU 3 140825120 140825120 single base substitution G A intron_variant MELA-AU 3 140825217 140825217 single base substitution C T intron_variant MELA-AU 3 140825350 140825351 multiple base substitution (>=2bp and <=200bp) CC TT intron_variant MELA-AU 3 140825477 140825477 single base substitution G A intron_variant MELA-AU 3 140825599 140825599 single base substitution C T intron_variant MELA-AU 3 140825701 140825701 single base substitution C T intron_variant MELA-AU 3 140825799 140825799 single base substitution G A intron_variant MELA-AU 3 140825863 140825863 single base substitution C T intron_variant MELA-AU 3 140826002 140826002 single base substitution G A intron_variant MELA-AU 3 140826042 140826042 single base substitution A G intron_variant MELA-AU 3 140826228 140826228 single base substitution G A intron_variant MELA-AU 3 140826412 140826412 single base substitution C T intron_variant MELA-AU 3 140826427 140826427 single base substitution T C intron_variant MELA-AU 3 140826443 140826443 single base substitution C T intron_variant MELA-AU 3 140826883 140826883 single base substitution C T intron_variant MELA-AU 3 140826921 140826921 single base substitution C T intron_variant MELA-AU 3 140826949 140826949 single base substitution G A intron_variant MELA-AU 3 140827035 140827035 single base substitution C T intron_variant MELA-AU 3 140827040 140827040 single base substitution G T intron_variant MELA-AU 3 140827052 140827052 single base substitution C T intron_variant MELA-AU 3 140827297 140827298 multiple base substitution (>=2bp and <=200bp) GG AA intron_variant MELA-AU 3 140827512 140827512 single base substitution G A intron_variant MELA-AU 3 140827533 140827533 single base substitution T A intron_variant MELA-AU 3 140827910 140827910 single base substitution T C intron_variant MELA-AU 3 140828005 140828005 single base substitution A G intron_variant MELA-AU 3 140828237 140828237 single base substitution G A intron_variant MELA-AU 3 140828243 140828243 deletion of <=200bp G - intron_variant MELA-AU 3 140828282 140828282 single base substitution C T intron_variant MELA-AU 3 140828310 140828310 single base substitution C T intron_variant MELA-AU 3 140828476 140828476 single base substitution C T intron_variant MELA-AU 3 140828527 140828527 single base substitution C T intron_variant MELA-AU 3 140828831 140828831 single base substitution C T intron_variant MELA-AU 3 140828851 140828851 single base substitution G A intron_variant MELA-AU 3 140828852 140828852 single base substitution G A intron_variant MELA-AU 3 140828944 140828944 single base substitution C T intron_variant MELA-AU 3 140828980 140828980 single base substitution C T intron_variant MELA-AU 3 140829035 140829035 single base substitution C T intron_variant MELA-AU 3 140829120 140829120 single base substitution C T intron_variant MELA-AU 3 140829175 140829175 single base substitution A G intron_variant MELA-AU 3 140829227 140829227 single base substitution G A intron_variant MELA-AU 3 140829269 140829269 single base substitution G A intron_variant MELA-AU 3 140829324 140829324 single base substitution G A intron_variant MELA-AU 3 140829375 140829375 single base substitution C T intron_variant MELA-AU 3 140829393 140829393 single base substitution C T intron_variant MELA-AU 3 140829509 140829509 single base substitution T C intron_variant MELA-AU 3 140829601 140829601 single base substitution C T intron_variant MELA-AU 3 140829659 140829659 single base substitution C T intron_variant MELA-AU 3 140829763 140829763 single base substitution C T intron_variant MELA-AU 3 140830098 140830098 single base substitution G A intron_variant MELA-AU 3 140830189 140830189 single base substitution G A intron_variant MELA-AU 3 140830695 140830695 single base substitution C T intron_variant MELA-AU 3 140830723 140830723 single base substitution C T intron_variant MELA-AU 3 140830765 140830765 single base substitution C T intron_variant MELA-AU 3 140830890 140830890 single base substitution C T intron_variant MELA-AU 3 140831026 140831026 single base substitution C T intron_variant MELA-AU 3 140831164 140831164 single base substitution G A intron_variant MELA-AU 3 140831223 140831223 single base substitution C T intron_variant MELA-AU 3 140831585 140831585 single base substitution C T intron_variant MELA-AU 3 140831785 140831785 single base substitution G A intron_variant MELA-AU 3 140831973 140831973 single base substitution G A intron_variant MELA-AU 3 140832017 140832017 single base substitution G A intron_variant MELA-AU 3 140832141 140832141 single base substitution G A intron_variant MELA-AU 3 140832146 140832146 single base substitution G A intron_variant MELA-AU 3 140832182 140832182 single base substitution G A intron_variant MELA-AU 3 140832373 140832373 single base substitution C T intron_variant MELA-AU 3 140832389 140832389 single base substitution C T intron_variant MELA-AU 3 140832405 140832405 single base substitution A C intron_variant MELA-AU 3 140832469 140832469 single base substitution G A intron_variant MELA-AU 3 140832596 140832596 single base substitution G A intron_variant MELA-AU 3 140832947 140832947 single base substitution G A intron_variant MELA-AU 3 140833001 140833001 single base substitution C T intron_variant MELA-AU 3 140833194 140833194 single base substitution C T intron_variant MELA-AU 3 140834084 140834084 single base substitution T C intron_variant MELA-AU 3 140834326 140834326 single base substitution C T intron_variant MELA-AU 3 140834541 140834541 single base substitution A T intron_variant MELA-AU 3 140834636 140834636 single base substitution C T intron_variant MELA-AU 3 140834678 140834678 single base substitution C T intron_variant MELA-AU 3 140834729 140834729 single base substitution G A intron_variant MELA-AU 3 140835091 140835091 single base substitution C T intron_variant MELA-AU 3 140835113 140835113 single base substitution C T intron_variant MELA-AU 3 140835430 140835430 single base substitution C T intron_variant MELA-AU 3 140835487 140835487 single base substitution C T intron_variant MELA-AU 3 140835575 140835575 single base substitution G A intron_variant MELA-AU 3 140835746 140835746 single base substitution G A intron_variant MELA-AU 3 140835952 140835952 single base substitution C T intron_variant MELA-AU 3 140835954 140835954 single base substitution C T intron_variant MELA-AU 3 140836062 140836062 single base substitution T C intron_variant MELA-AU 3 140836182 140836182 single base substitution T A intron_variant MELA-AU 3 140836344 140836344 single base substitution C T intron_variant MELA-AU 3 140836509 140836509 single base substitution C A intron_variant MELA-AU 3 140836534 140836534 single base substitution C T intron_variant MELA-AU 3 140836570 140836570 single base substitution C T intron_variant MELA-AU 3 140836640 140836640 single base substitution C T intron_variant MELA-AU 3 140836773 140836773 single base substitution C T intron_variant MELA-AU 3 140836842 140836842 single base substitution A G intron_variant MELA-AU 3 140837448 140837448 single base substitution G A intron_variant MELA-AU 3 140837458 140837458 single base substitution G A intron_variant MELA-AU 3 140837526 140837526 single base substitution G A intron_variant MELA-AU 3 140837661 140837661 single base substitution C T intron_variant MELA-AU 3 140837813 140837813 single base substitution G A intron_variant MELA-AU 3 140837953 140837953 single base substitution C T intron_variant MELA-AU 3 140838213 140838213 single base substitution C T intron_variant MELA-AU 3 140838296 140838296 single base substitution C T intron_variant MELA-AU 3 140838615 140838615 single base substitution T A intron_variant MELA-AU 3 140838647 140838647 single base substitution C T intron_variant MELA-AU 3 140838702 140838702 single base substitution C T intron_variant MELA-AU 3 140838715 140838715 single base substitution C T intron_variant MELA-AU 3 140838805 140838805 single base substitution A T intron_variant MELA-AU 3 140838852 140838852 single base substitution G A intron_variant MELA-AU 3 140838944 140838944 single base substitution C T intron_variant MELA-AU 3 140839069 140839069 single base substitution T C intron_variant MELA-AU 3 140839286 140839286 single base substitution G A intron_variant MELA-AU 3 140839305 140839305 single base substitution C T intron_variant MELA-AU 3 140839810 140839810 single base substitution C T intron_variant MELA-AU 3 140839920 140839920 single base substitution C T intron_variant MELA-AU 3 140840069 140840069 single base substitution T C intron_variant MELA-AU 3 140840145 140840145 single base substitution C T intron_variant MELA-AU 3 140840167 140840167 single base substitution C T intron_variant MELA-AU 3 140840312 140840312 single base substitution T C intron_variant MELA-AU 3 140840488 140840488 single base substitution C T intron_variant MELA-AU 3 140840778 140840778 single base substitution C T intron_variant MELA-AU 3 140840794 140840794 single base substitution C T intron_variant MELA-AU 3 140840849 140840849 single base substitution G A intron_variant MELA-AU 3 140840871 140840871 single base substitution G A intron_variant MELA-AU 3 140840977 140840977 single base substitution C T intron_variant MELA-AU 3 140840982 140840982 single base substitution C T intron_variant MELA-AU 3 140841103 140841103 single base substitution A G intron_variant MELA-AU 3 140841139 140841139 single base substitution C T intron_variant MELA-AU 3 140841221 140841221 single base substitution G A intron_variant MELA-AU 3 140841490 140841490 single base substitution G A intron_variant MELA-AU 3 140841610 140841610 single base substitution C T intron_variant MELA-AU 3 140841672 140841672 single base substitution C T intron_variant MELA-AU 3 140841698 140841698 single base substitution C T intron_variant MELA-AU 3 140842052 140842052 single base substitution C T intron_variant MELA-AU 3 140842411 140842411 single base substitution C T intron_variant MELA-AU 3 140842434 140842434 single base substitution G A intron_variant MELA-AU 3 140842477 140842477 single base substitution G A intron_variant MELA-AU 3 140842599 140842599 single base substitution G A intron_variant MELA-AU 3 140842614 140842614 single base substitution T C intron_variant MELA-AU 3 140842946 140842946 single base substitution C T intron_variant MELA-AU 3 140843039 140843039 single base substitution G A intron_variant MELA-AU 3 140843162 140843162 single base substitution C T intron_variant MELA-AU 3 140843477 140843477 single base substitution G A intron_variant MELA-AU 3 140843505 140843505 single base substitution G A intron_variant MELA-AU 3 140843615 140843615 single base substitution G A intron_variant MELA-AU 3 140843662 140843662 single base substitution C T intron_variant MELA-AU 3 140843872 140843872 single base substitution G A intron_variant MELA-AU 3 140843948 140843948 single base substitution G A intron_variant MELA-AU 3 140843957 140843957 single base substitution G A intron_variant MELA-AU 3 140843970 140843970 single base substitution G A intron_variant MELA-AU 3 140844132 140844132 single base substitution G A intron_variant MELA-AU 3 140844282 140844282 single base substitution G A intron_variant MELA-AU 3 140844403 140844403 single base substitution C T intron_variant MELA-AU 3 140844492 140844492 single base substitution G A intron_variant MELA-AU 3 140844493 140844493 single base substitution G A intron_variant MELA-AU 3 140844507 140844507 single base substitution C T intron_variant MELA-AU 3 140844671 140844671 single base substitution C T intron_variant MELA-AU 3 140844752 140844752 single base substitution G C intron_variant MELA-AU 3 140844929 140844929 single base substitution G A intron_variant MELA-AU 3 140845029 140845029 single base substitution G A intron_variant MELA-AU 3 140845031 140845031 single base substitution G A intron_variant MELA-AU 3 140845047 140845047 single base substitution C T intron_variant MELA-AU 3 140845118 140845118 single base substitution C T intron_variant MELA-AU 3 140845184 140845184 single base substitution C T intron_variant MELA-AU 3 140845323 140845323 single base substitution C T intron_variant MELA-AU 3 140845325 140845325 single base substitution C T intron_variant MELA-AU 3 140845333 140845333 single base substitution C T intron_variant MELA-AU 3 140845481 140845481 single base substitution C T intron_variant MELA-AU 3 140845612 140845612 single base substitution G A intron_variant MELA-AU 3 140845780 140845780 single base substitution C T intron_variant MELA-AU 3 140845847 140845847 single base substitution C T intron_variant MELA-AU 3 140845865 140845865 single base substitution C T intron_variant MELA-AU 3 140845867 140845867 single base substitution C T intron_variant MELA-AU 3 140845913 140845913 single base substitution G T intron_variant MELA-AU 3 140845931 140845931 single base substitution G A intron_variant MELA-AU 3 140845981 140845981 single base substitution G A intron_variant MELA-AU 3 140846020 140846020 single base substitution G A intron_variant MELA-AU 3 140846124 140846124 single base substitution G A intron_variant MELA-AU 3 140846208 140846208 single base substitution G A intron_variant MELA-AU 3 140846282 140846282 single base substitution C T intron_variant MELA-AU 3 140846316 140846316 single base substitution C T intron_variant MELA-AU 3 140846629 140846629 single base substitution G A intron_variant MELA-AU 3 140846713 140846713 single base substitution G A intron_variant MELA-AU 3 140846822 140846822 single base substitution G A intron_variant MELA-AU 3 140846920 140846920 single base substitution G A intron_variant MELA-AU 3 140846959 140846959 single base substitution A T intron_variant MELA-AU 3 140847411 140847411 single base substitution C T intron_variant MELA-AU 3 140847472 140847472 single base substitution C T intron_variant MELA-AU 3 140847478 140847479 multiple base substitution (>=2bp and <=200bp) GG AA intron_variant MELA-AU 3 140847698 140847698 single base substitution C T intron_variant MELA-AU 3 140847916 140847916 single base substitution G A intron_variant MELA-AU 3 140848006 140848006 single base substitution C T intron_variant MELA-AU 3 140848015 140848015 single base substitution G A intron_variant MELA-AU 3 140848023 140848023 single base substitution C T intron_variant MELA-AU 3 140848325 140848325 single base substitution C T intron_variant MELA-AU 3 140848415 140848415 single base substitution C T intron_variant MELA-AU 3 140848616 140848616 single base substitution G A intron_variant MELA-AU 3 140848653 140848653 single base substitution G A intron_variant MELA-AU 3 140848735 140848735 single base substitution G A intron_variant MELA-AU 3 140848736 140848736 single base substitution G A intron_variant MELA-AU 3 140849008 140849008 single base substitution T C intron_variant MELA-AU 3 140849022 140849022 single base substitution G A intron_variant MELA-AU 3 140849107 140849107 single base substitution G A intron_variant MELA-AU 3 140849152 140849152 single base substitution G A intron_variant MELA-AU 3 140849198 140849198 single base substitution C T intron_variant MELA-AU 3 140849430 140849430 single base substitution T C intron_variant MELA-AU 3 140849690 140849690 single base substitution G A intron_variant MELA-AU 3 140849719 140849719 single base substitution G C intron_variant MELA-AU 3 140849784 140849784 single base substitution C T intron_variant MELA-AU 3 140849791 140849791 single base substitution C T intron_variant MELA-AU 3 140849941 140849941 single base substitution C T intron_variant MELA-AU 3 140849948 140849948 single base substitution G A intron_variant MELA-AU 3 140850103 140850103 single base substitution C T intron_variant MELA-AU 3 140850105 140850105 single base substitution C T intron_variant MELA-AU 3 140850116 140850116 single base substitution C T intron_variant MELA-AU 3 140850143 140850143 single base substitution C T intron_variant MELA-AU 3 140850183 140850183 single base substitution T A intron_variant MELA-AU 3 140850328 140850328 single base substitution C T intron_variant MELA-AU 3 140850536 140850536 single base substitution T A intron_variant MELA-AU 3 140850691 140850692 multiple base substitution (>=2bp and <=200bp) GG AA intron_variant MELA-AU 3 140850698 140850698 single base substitution C T intron_variant MELA-AU 3 140850778 140850778 single base substitution G A intron_variant MELA-AU 3 140850900 140850900 single base substitution G A intron_variant MELA-AU 3 140850986 140850986 single base substitution C T intron_variant MELA-AU 3 140850994 140850994 single base substitution C T intron_variant MELA-AU 3 140851033 140851033 single base substitution G A intron_variant MELA-AU 3 140851033 140851033 single base substitution G A splice_region_variant MELA-AU 3 140851145 140851145 single base substitution G A 3_prime_UTR_variant MELA-AU 3 140851145 140851145 single base substitution G A intron_variant MELA-AU 3 140851243 140851243 single base substitution C T intron_variant MELA-AU 3 140851315 140851315 single base substitution C T intron_variant MELA-AU 3 140851426 140851426 single base substitution C T intron_variant MELA-AU 3 140851441 140851441 single base substitution G A intron_variant MELA-AU 3 140851727 140851727 single base substitution C T intron_variant MELA-AU 3 140851752 140851753 multiple base substitution (>=2bp and <=200bp) CC TT intron_variant MELA-AU 3 140851776 140851776 single base substitution C T intron_variant MELA-AU 3 140851802 140851802 single base substitution C T intron_variant MELA-AU 3 140852183 140852183 single base substitution T A intron_variant MELA-AU 3 140852189 140852189 single base substitution C T intron_variant MELA-AU 3 140852198 140852198 single base substitution G A intron_variant MELA-AU 3 140852331 140852331 single base substitution C T intron_variant MELA-AU 3 140852428 140852428 single base substitution G A intron_variant MELA-AU 3 140852443 140852443 single base substitution G A intron_variant MELA-AU 3 140852464 140852464 single base substitution G A intron_variant MELA-AU 3 140852630 140852630 single base substitution G A intron_variant MELA-AU 3 140852638 140852638 single base substitution G A intron_variant MELA-AU 3 140852799 140852799 single base substitution G T intron_variant MELA-AU 3 140852808 140852808 single base substitution C T intron_variant MELA-AU 3 140853042 140853042 single base substitution C T intron_variant MELA-AU 3 140853154 140853154 single base substitution C T intron_variant MELA-AU 3 140853258 140853258 single base substitution C T intron_variant MELA-AU 3 140853478 140853478 single base substitution T G intron_variant MELA-AU 3 140853691 140853692 multiple base substitution (>=2bp and <=200bp) GA TT intron_variant MELA-AU 3 140853863 140853863 single base substitution G A intron_variant MELA-AU 3 140853940 140853940 single base substitution C T intron_variant MELA-AU 3 140853992 140853992 single base substitution C T intron_variant MELA-AU 3 140853994 140853994 single base substitution G A intron_variant MELA-AU 3 140854190 140854190 single base substitution T A intron_variant MELA-AU 3 140854203 140854203 single base substitution T A intron_variant MELA-AU 3 140854241 140854241 single base substitution G A intron_variant MELA-AU 3 140854954 140854954 single base substitution C T intron_variant MELA-AU 3 140854980 140854980 single base substitution C T intron_variant MELA-AU 3 140855007 140855007 single base substitution C T intron_variant MELA-AU 3 140855010 140855010 single base substitution T A intron_variant MELA-AU 3 140855095 140855095 single base substitution G A intron_variant MELA-AU 3 140855156 140855156 single base substitution C T intron_variant MELA-AU 3 140855307 140855307 single base substitution G A intron_variant MELA-AU 3 140855385 140855385 single base substitution C T intron_variant MELA-AU 3 140855436 140855436 single base substitution G A intron_variant MELA-AU 3 140855517 140855517 single base substitution C T intron_variant MELA-AU 3 140855524 140855524 single base substitution C T intron_variant MELA-AU 3 140856013 140856013 single base substitution G A intron_variant MELA-AU 3 140856048 140856048 single base substitution C T intron_variant MELA-AU 3 140856154 140856154 single base substitution C T intron_variant MELA-AU 3 140856311 140856311 single base substitution G A intron_variant MELA-AU 3 140856341 140856341 single base substitution G A intron_variant MELA-AU 3 140856357 140856358 multiple base substitution (>=2bp and <=200bp) AC TT intron_variant MELA-AU 3 140856435 140856435 single base substitution C T intron_variant MELA-AU 3 140856522 140856522 single base substitution G A intron_variant MELA-AU 3 140856536 140856536 single base substitution C T intron_variant MELA-AU 3 140856551 140856551 single base substitution T G intron_variant MELA-AU 3 140856555 140856555 single base substitution G A intron_variant MELA-AU 3 140856619 140856619 single base substitution G A intron_variant MELA-AU 3 140856636 140856636 single base substitution C T intron_variant MELA-AU 3 140856897 140856897 single base substitution A G intron_variant MELA-AU 3 140856940 140856940 single base substitution C T intron_variant MELA-AU 3 140857186 140857186 single base substitution C A intron_variant MELA-AU 3 140857235 140857235 single base substitution C T intron_variant MELA-AU 3 140857292 140857292 insertion of <=200bp - CTGCTTT intron_variant MELA-AU 3 140857470 140857470 single base substitution C T intron_variant MELA-AU 3 140857496 140857496 single base substitution T C intron_variant MELA-AU 3 140857553 140857553 single base substitution A G intron_variant MELA-AU 3 140857847 140857847 single base substitution G A intron_variant MELA-AU 3 140857851 140857851 single base substitution C T intron_variant MELA-AU 3 140857886 140857886 single base substitution G A intron_variant MELA-AU 3 140857895 140857895 single base substitution T C intron_variant MELA-AU 3 140858211 140858211 single base substitution C T intron_variant MELA-AU 3 140858568 140858568 single base substitution C T intron_variant MELA-AU 3 140858569 140858569 single base substitution C T intron_variant MELA-AU 3 140858617 140858617 single base substitution C T intron_variant MELA-AU 3 140858682 140858682 single base substitution C T intron_variant MELA-AU 3 140858783 140858783 single base substitution T C intron_variant MELA-AU 3 140858901 140858901 single base substitution C T intron_variant MELA-AU 3 140858918 140858918 single base substitution C T intron_variant MELA-AU 3 140858922 140858922 single base substitution C T intron_variant MELA-AU 3 140858927 140858927 single base substitution C T intron_variant MELA-AU 3 140858963 140858963 single base substitution C T intron_variant MELA-AU 3 140858990 140858990 single base substitution C T intron_variant MELA-AU 3 140859018 140859018 single base substitution C T intron_variant MELA-AU 3 140859032 140859032 single base substitution C T intron_variant MELA-AU 3 140859230 140859230 single base substitution C T intron_variant MELA-AU 3 140859288 140859288 single base substitution C T intron_variant MELA-AU 3 140859330 140859330 single base substitution G A intron_variant MELA-AU 3 140859362 140859362 single base substitution C T intron_variant MELA-AU 3 140859363 140859363 single base substitution C T intron_variant MELA-AU 3 140859382 140859382 single base substitution C T intron_variant MELA-AU 3 140859525 140859525 single base substitution C T intron_variant MELA-AU 3 140859531 140859531 single base substitution G A intron_variant MELA-AU 3 140859588 140859589 multiple base substitution (>=2bp and <=200bp) GG AA intron_variant MELA-AU 3 140859742 140859742 single base substitution T A intron_variant MELA-AU 3 140859798 140859798 single base substitution C T intron_variant MELA-AU 3 140859804 140859804 single base substitution C T intron_variant MELA-AU 3 140859913 140859913 single base substitution G A intron_variant MELA-AU 3 140859991 140859991 single base substitution C T intron_variant MELA-AU 3 140860101 140860101 single base substitution C T intron_variant MELA-AU 3 140860109 140860109 single base substitution C T intron_variant MELA-AU 3 140860400 140860400 single base substitution G T intron_variant MELA-AU 3 140860402 140860402 single base substitution G A intron_variant MELA-AU 3 140860507 140860507 single base substitution C T intron_variant MELA-AU 3 140860648 140860648 single base substitution C T intron_variant MELA-AU 3 140860696 140860696 single base substitution G A intron_variant MELA-AU 3 140860784 140860784 single base substitution C T intron_variant MELA-AU 3 140860880 140860880 single base substitution C T intron_variant MELA-AU 3 140861034 140861034 single base substitution C T intron_variant MELA-AU 3 140861092 140861092 single base substitution C T intron_variant MELA-AU 3 140861207 140861207 single base substitution G A intron_variant MELA-AU 3 140861218 140861218 single base substitution C T intron_variant MELA-AU 3 140861264 140861264 single base substitution G A intron_variant MELA-AU 3 140861398 140861398 single base substitution C T intron_variant MELA-AU 3 140861449 140861449 single base substitution C T intron_variant MELA-AU 3 140861506 140861506 single base substitution T C intron_variant MELA-AU 3 140861560 140861560 single base substitution C T intron_variant MELA-AU 3 140861689 140861689 single base substitution C T intron_variant MELA-AU 3 140861896 140861896 single base substitution G A intron_variant MELA-AU 3 140862017 140862017 single base substitution C T intron_variant MELA-AU 3 140862043 140862043 single base substitution C T intron_variant MELA-AU 3 140862265 140862265 single base substitution C T intron_variant MELA-AU 3 140862294 140862294 single base substitution G A intron_variant MELA-AU 3 140862334 140862334 single base substitution G A intron_variant MELA-AU 3 140862508 140862508 single base substitution G A intron_variant MELA-AU 3 140862512 140862512 single base substitution T A intron_variant MELA-AU 3 140862528 140862528 single base substitution C T intron_variant MELA-AU 3 140862632 140862632 single base substitution C T intron_variant MELA-AU 3 140862671 140862671 single base substitution C T intron_variant MELA-AU 3 140862791 140862791 single base substitution A G intron_variant MELA-AU 3 140863002 140863002 single base substitution C T intron_variant MELA-AU 3 140863059 140863059 single base substitution C T intron_variant MELA-AU 3 140863173 140863173 single base substitution G A intron_variant MELA-AU 3 140863268 140863268 single base substitution G A intron_variant MELA-AU 3 140863298 140863298 single base substitution G T intron_variant MELA-AU 3 140863519 140863519 single base substitution C T intron_variant MELA-AU 3 140863572 140863572 single base substitution G A intron_variant MELA-AU 3 140863640 140863640 single base substitution G T intron_variant MELA-AU 3 140863696 140863696 single base substitution G A intron_variant MELA-AU 3 140863763 140863763 single base substitution C T intron_variant MELA-AU 3 140863784 140863784 single base substitution G A intron_variant MELA-AU 3 140863818 140863818 single base substitution G A intron_variant MELA-AU 3 140863835 140863835 single base substitution C T intron_variant MELA-AU 3 140863842 140863843 multiple base substitution (>=2bp and <=200bp) GG AA intron_variant MELA-AU 3 140863921 140863921 single base substitution T C intron_variant MELA-AU 3 140863941 140863941 single base substitution C T intron_variant MELA-AU 3 140863944 140863944 single base substitution G T intron_variant MELA-AU 3 140863965 140863965 single base substitution G A intron_variant MELA-AU 3 140863986 140863986 single base substitution A T intron_variant MELA-AU 3 140864208 140864208 single base substitution C T intron_variant MELA-AU 3 140864215 140864215 single base substitution C T intron_variant MELA-AU 3 140864236 140864236 single base substitution C T intron_variant MELA-AU 3 140864261 140864261 single base substitution A T intron_variant MELA-AU 3 140864376 140864376 single base substitution C T intron_variant MELA-AU 3 140864551 140864551 single base substitution A T intron_variant MELA-AU 3 140864731 140864731 single base substitution T G intron_variant MELA-AU 3 140865020 140865020 single base substitution G A intron_variant MELA-AU 3 140865149 140865149 single base substitution A G intron_variant MELA-AU 3 140865161 140865161 single base substitution C T intron_variant MELA-AU 3 140865259 140865259 single base substitution C T intron_variant MELA-AU 3 140865320 140865320 single base substitution C T intron_variant MELA-AU 3 140865359 140865359 single base substitution C T intron_variant MELA-AU 3 140865413 140865413 single base substitution C T intron_variant MELA-AU 3 140865499 140865499 single base substitution C T intron_variant MELA-AU 3 140865589 140865589 single base substitution C T intron_variant MELA-AU 3 140865642 140865642 single base substitution C T intron_variant MELA-AU 3 140865717 140865717 single base substitution C T intron_variant MELA-AU 3 140865719 140865719 single base substitution C T intron_variant MELA-AU 3 140865739 140865739 single base substitution G A intron_variant MELA-AU 3 140865919 140865919 single base substitution G A intron_variant MELA-AU 3 140865925 140865925 single base substitution G A intron_variant MELA-AU 3 140866004 140866004 single base substitution G A 3_prime_UTR_variant MELA-AU 3 140866004 140866004 single base substitution G A exon_variant MELA-AU 3 140866004 140866004 single base substitution G A missense_variant D239N 715G>A MELA-AU 3 140866071 140866071 single base substitution C T 3_prime_UTR_variant MELA-AU 3 140866071 140866071 single base substitution C T exon_variant MELA-AU 3 140866071 140866071 single base substitution C T missense_variant P261L 782C>T MELA-AU 3 140866158 140866158 single base substitution C A 3_prime_UTR_variant MELA-AU 3 140866158 140866158 single base substitution C A exon_variant MELA-AU 3 140866336 140866336 single base substitution C T 3_prime_UTR_variant MELA-AU 3 140866336 140866336 single base substitution C T downstream_gene_variant MELA-AU 3 140866432 140866432 single base substitution C T 3_prime_UTR_variant MELA-AU 3 140866432 140866432 single base substitution C T downstream_gene_variant MELA-AU 3 140866506 140866506 single base substitution G A 3_prime_UTR_variant MELA-AU 3 140866506 140866506 single base substitution G A downstream_gene_variant MELA-AU 3 140866529 140866529 single base substitution G A 3_prime_UTR_variant MELA-AU 3 140866529 140866529 single base substitution G A downstream_gene_variant MELA-AU 3 140866570 140866570 deletion of <=200bp G - 3_prime_UTR_variant MELA-AU 3 140866570 140866570 deletion of <=200bp G - downstream_gene_variant MELA-AU 3 140866724 140866724 single base substitution T G 3_prime_UTR_variant MELA-AU 3 140866724 140866724 single base substitution T G downstream_gene_variant MELA-AU 3 140866744 140866744 single base substitution C T 3_prime_UTR_variant MELA-AU 3 140866744 140866744 single base substitution C T downstream_gene_variant MELA-AU 3 140866916 140866916 single base substitution G A 3_prime_UTR_variant MELA-AU 3 140866916 140866916 single base substitution G A downstream_gene_variant MELA-AU 3 140866963 140866963 single base substitution C T 3_prime_UTR_variant MELA-AU 3 140866963 140866963 single base substitution C T downstream_gene_variant MELA-AU 3 140866975 140866975 single base substitution G A 3_prime_UTR_variant MELA-AU 3 140866975 140866975 single base substitution G A downstream_gene_variant MELA-AU 3 140866980 140866980 single base substitution G A 3_prime_UTR_variant MELA-AU 3 140866980 140866980 single base substitution G A downstream_gene_variant MELA-AU 3 140867371 140867371 single base substitution C T 3_prime_UTR_variant MELA-AU 3 140867371 140867371 single base substitution C T downstream_gene_variant MELA-AU 3 140867417 140867417 single base substitution A C 3_prime_UTR_variant MELA-AU 3 140867417 140867417 single base substitution A C downstream_gene_variant MELA-AU 3 140867549 140867549 single base substitution C T downstream_gene_variant MELA-AU 3 140867564 140867564 single base substitution C T downstream_gene_variant MELA-AU 3 140867778 140867778 single base substitution C T downstream_gene_variant MELA-AU 3 140867856 140867856 single base substitution G A downstream_gene_variant MELA-AU 3 140867869 140867869 single base substitution G A downstream_gene_variant MELA-AU 3 140868022 140868022 single base substitution C T downstream_gene_variant MELA-AU 3 140868116 140868116 single base substitution A C downstream_gene_variant MELA-AU 3 140868146 140868146 single base substitution G A downstream_gene_variant MELA-AU 3 140868214 140868214 single base substitution C T downstream_gene_variant MELA-AU 3 140868367 140868367 single base substitution G A downstream_gene_variant MELA-AU 3 140868516 140868516 single base substitution A G downstream_gene_variant MELA-AU 3 140868569 140868569 single base substitution C T downstream_gene_variant MELA-AU 3 140868598 140868598 single base substitution C T downstream_gene_variant MELA-AU 3 140868610 140868610 single base substitution C T downstream_gene_variant MELA-AU 3 140868618 140868619 multiple base substitution (>=2bp and <=200bp) CC TT downstream_gene_variant MELA-AU 3 140868746 140868746 single base substitution C T downstream_gene_variant MELA-AU 3 140868774 140868774 single base substitution G A downstream_gene_variant MELA-AU 3 140868967 140868967 single base substitution C T downstream_gene_variant MELA-AU 3 140869003 140869003 single base substitution C T downstream_gene_variant MELA-AU 3 140869329 140869329 single base substitution G A downstream_gene_variant MELA-AU 3 140869363 140869363 single base substitution C T downstream_gene_variant MELA-AU 3 140869462 140869462 single base substitution A C downstream_gene_variant MELA-AU 3 140869625 140869626 multiple base substitution (>=2bp and <=200bp) GG AA downstream_gene_variant MELA-AU 3 140869735 140869735 single base substitution C T downstream_gene_variant MELA-AU 3 140869781 140869781 single base substitution C T downstream_gene_variant MELA-AU 3 140869791 140869791 single base substitution C T downstream_gene_variant MELA-AU 3 140869797 140869797 single base substitution C T downstream_gene_variant MELA-AU 3 140870047 140870047 single base substitution C T downstream_gene_variant MELA-AU 3 140870603 140870603 single base substitution G A downstream_gene_variant MELA-AU 3 140870625 140870625 single base substitution G A downstream_gene_variant MELA-AU 3 140870761 140870761 single base substitution C T downstream_gene_variant MELA-AU 3 140870774 140870774 single base substitution G A downstream_gene_variant MELA-AU 3 140870846 140870846 single base substitution C T downstream_gene_variant MELA-AU 3 140870854 140870854 single base substitution G A downstream_gene_variant MELA-AU 3 140870918 140870918 single base substitution G A downstream_gene_variant MELA-AU 3 140870952 140870952 single base substitution C T downstream_gene_variant MELA-AU 3 140870955 140870955 single base substitution G C downstream_gene_variant MELA-AU 3 140871017 140871017 single base substitution C T downstream_gene_variant MELA-AU 3 140871044 140871044 single base substitution G A downstream_gene_variant MELA-AU 3 140871063 140871063 single base substitution G A downstream_gene_variant MELA-AU 3 140871103 140871103 single base substitution G A downstream_gene_variant MELA-AU 3 140871119 140871119 single base substitution G A downstream_gene_variant MELA-AU 3 140871175 140871175 single base substitution C T downstream_gene_variant MELA-AU 3 140871294 140871294 single base substitution C T downstream_gene_variant MELA-AU 3 140871324 140871324 single base substitution C T downstream_gene_variant MELA-AU 3 140871743 140871743 single base substitution C T downstream_gene_variant MELA-AU 3 140871829 140871829 single base substitution C T downstream_gene_variant MELA-AU 3 140872080 140872080 single base substitution G A downstream_gene_variant MELA-AU 3 140872282 140872282 single base substitution C T downstream_gene_variant MELA-AU 3 140872413 140872413 single base substitution C T downstream_gene_variant ORCA-IN 3 140768111 140768111 single base substitution G T upstream_gene_variant ORCA-IN 3 140790570 140790570 single base substitution G A intron_variant ORCA-IN 3 140796991 140796991 single base substitution C T intron_variant ORCA-IN 3 140806967 140806967 single base substitution G A intron_variant ORCA-IN 3 140861815 140861815 single base substitution C T intron_variant ORCA-IN 3 140868228 140868228 single base substitution G C downstream_gene_variant OV-AU 3 140767363 140767363 single base substitution C A upstream_gene_variant OV-AU 3 140771911 140771911 single base substitution T C intron_variant OV-AU 3 140771912 140771912 single base substitution G T intron_variant OV-AU 3 140772042 140772042 single base substitution A C intron_variant OV-AU 3 140772684 140772684 single base substitution G A intron_variant OV-AU 3 140773540 140773540 single base substitution G T intron_variant OV-AU 3 140775006 140775006 single base substitution C T intron_variant OV-AU 3 140780321 140780321 single base substitution A T intron_variant OV-AU 3 140785822 140785822 single base substitution C A intron_variant OV-AU 3 140786679 140786679 single base substitution G T intron_variant OV-AU 3 140790981 140790981 single base substitution G A intron_variant OV-AU 3 140790981 140790981 single base substitution G A upstream_gene_variant OV-AU 3 140795019 140795019 single base substitution C G intron_variant OV-AU 3 140795019 140795019 single base substitution C G upstream_gene_variant OV-AU 3 140796938 140796938 single base substitution C T intron_variant OV-AU 3 140803112 140803112 single base substitution G C downstream_gene_variant OV-AU 3 140803112 140803112 single base substitution G C intron_variant OV-AU 3 140803417 140803417 single base substitution A G downstream_gene_variant OV-AU 3 140803417 140803417 single base substitution A G intron_variant OV-AU 3 140805547 140805547 single base substitution G C intron_variant OV-AU 3 140809592 140809592 single base substitution C A intron_variant OV-AU 3 140810533 140810533 single base substitution A T intron_variant OV-AU 3 140810638 140810638 single base substitution G A intron_variant OV-AU 3 140812065 140812065 single base substitution A T intron_variant OV-AU 3 140821202 140821202 single base substitution G C intron_variant OV-AU 3 140822560 140822560 single base substitution C A intron_variant OV-AU 3 140822738 140822738 single base substitution A T intron_variant OV-AU 3 140823338 140823338 single base substitution G T intron_variant OV-AU 3 140824834 140824834 single base substitution G A intron_variant OV-AU 3 140827999 140827999 single base substitution G C intron_variant OV-AU 3 140828241 140828241 single base substitution G A intron_variant OV-AU 3 140831215 140831215 single base substitution C T intron_variant OV-AU 3 140837078 140837078 single base substitution G C intron_variant OV-AU 3 140837081 140837081 single base substitution C T intron_variant OV-AU 3 140842029 140842029 single base substitution A G intron_variant OV-AU 3 140844540 140844540 single base substitution G T intron_variant OV-AU 3 140847338 140847338 single base substitution G A intron_variant OV-AU 3 140849475 140849475 single base substitution G A intron_variant OV-AU 3 140849619 140849619 single base substitution T A intron_variant OV-AU 3 140853888 140853888 single base substitution T C intron_variant OV-AU 3 140857821 140857821 single base substitution T G intron_variant OV-AU 3 140860835 140860835 single base substitution C A intron_variant OV-AU 3 140860836 140860836 single base substitution T A intron_variant OV-AU 3 140863829 140863829 single base substitution G T intron_variant OV-AU 3 140867781 140867781 single base substitution A T downstream_gene_variant OV-AU 3 140869471 140869471 single base substitution C G downstream_gene_variant OV-AU 3 140871363 140871363 single base substitution A G downstream_gene_variant OV-AU 3 140872351 140872351 single base substitution C A downstream_gene_variant PACA-AU 3 140766741 140766741 single base substitution A T upstream_gene_variant PACA-AU 3 140769172 140769172 single base substitution G T upstream_gene_variant PACA-AU 3 140776348 140776348 single base substitution C A intron_variant PACA-AU 3 140784811 140784811 single base substitution G A 5_prime_UTR_variant PACA-AU 3 140784811 140784811 single base substitution G A upstream_gene_variant PACA-AU 3 140788649 140788649 single base substitution G A intron_variant PACA-AU 3 140789428 140789428 single base substitution C A intron_variant PACA-AU 3 140789429 140789429 single base substitution C A intron_variant PACA-AU 3 140791716 140791716 single base substitution G A intron_variant PACA-AU 3 140791716 140791716 single base substitution G A upstream_gene_variant PACA-AU 3 140793113 140793113 single base substitution G A intron_variant PACA-AU 3 140793113 140793113 single base substitution G A upstream_gene_variant PACA-AU 3 140793672 140793672 single base substitution G A intron_variant PACA-AU 3 140793672 140793672 single base substitution G A upstream_gene_variant PACA-AU 3 140798863 140798863 single base substitution A T intron_variant PACA-AU 3 140802196 140802196 deletion of <=200bp C - downstream_gene_variant PACA-AU 3 140802196 140802196 deletion of <=200bp C - intron_variant PACA-AU 3 140803253 140803264 deletion of <=200bp CTTTGACCCAAA - downstream_gene_variant PACA-AU 3 140803253 140803264 deletion of <=200bp CTTTGACCCAAA - intron_variant PACA-AU 3 140810839 140810839 single base substitution G C intron_variant PACA-AU 3 140813809 140813809 single base substitution C A intron_variant PACA-AU 3 140818127 140818127 single base substitution C T intron_variant PACA-AU 3 140821869 140821869 single base substitution C T intron_variant PACA-AU 3 140824120 140824120 single base substitution G A intron_variant PACA-AU 3 140824801 140824801 single base substitution T G intron_variant PACA-AU 3 140825351 140825351 single base substitution C T intron_variant PACA-AU 3 140826116 140826116 single base substitution G A intron_variant PACA-AU 3 140829359 140829359 single base substitution G A intron_variant PACA-AU 3 140831183 140831183 single base substitution C G intron_variant PACA-AU 3 140831215 140831215 single base substitution C T intron_variant PACA-AU 3 140832724 140832724 single base substitution G T intron_variant PACA-AU 3 140832956 140832956 single base substitution C G intron_variant PACA-AU 3 140835143 140835143 single base substitution A G intron_variant PACA-AU 3 140836737 140836737 single base substitution G C intron_variant PACA-AU 3 140838216 140838216 single base substitution C T intron_variant PACA-AU 3 140839248 140839248 single base substitution A C intron_variant PACA-AU 3 140843885 140843885 single base substitution A C intron_variant PACA-AU 3 140843913 140843913 single base substitution T C intron_variant PACA-AU 3 140847368 140847368 single base substitution G A intron_variant PACA-AU 3 140850244 140850244 single base substitution G A intron_variant PACA-AU 3 140850989 140850989 single base substitution C A intron_variant PACA-AU 3 140851254 140851254 single base substitution C T intron_variant PACA-AU 3 140856460 140856460 single base substitution T C intron_variant PACA-AU 3 140857105 140857105 single base substitution T A intron_variant PACA-AU 3 140857153 140857153 single base substitution G T intron_variant PACA-AU 3 140857388 140857388 single base substitution G A intron_variant PACA-AU 3 140860194 140860194 single base substitution C T intron_variant PACA-AU 3 140861008 140861008 single base substitution T C intron_variant PACA-AU 3 140861950 140861950 single base substitution G A intron_variant PACA-AU 3 140862180 140862180 single base substitution C T intron_variant PACA-AU 3 140862994 140862994 single base substitution G A intron_variant PACA-AU 3 140866046 140866046 single base substitution C T 3_prime_UTR_variant PACA-AU 3 140866046 140866046 single base substitution C T exon_variant PACA-AU 3 140866046 140866046 single base substitution C T missense_variant R253C 757C>T PACA-AU 3 140870522 140870522 single base substitution A G downstream_gene_variant PACA-CA 3 140765646 140765646 single base substitution G A upstream_gene_variant PACA-CA 3 140770250 140770250 single base substitution C A 5_prime_UTR_variant PACA-CA 3 140773532 140773532 single base substitution G A intron_variant PACA-CA 3 140774301 140774301 single base substitution A G intron_variant PACA-CA 3 140780730 140780730 single base substitution G A intron_variant PACA-CA 3 140780730 140780730 single base substitution G A upstream_gene_variant PACA-CA 3 140780743 140780743 single base substitution A C intron_variant PACA-CA 3 140780743 140780743 single base substitution A C upstream_gene_variant PACA-CA 3 140781058 140781058 single base substitution A G intron_variant PACA-CA 3 140781058 140781058 single base substitution A G upstream_gene_variant PACA-CA 3 140784841 140784841 single base substitution G A 5_prime_UTR_variant PACA-CA 3 140784841 140784841 single base substitution G A upstream_gene_variant PACA-CA 3 140785567 140785567 single base substitution G C exon_variant PACA-CA 3 140785567 140785567 single base substitution G C missense_variant K207N 621G>C PACA-CA 3 140787381 140787381 single base substitution G A intron_variant PACA-CA 3 140789706 140789706 single base substitution G A intron_variant PACA-CA 3 140790068 140790068 single base substitution C A intron_variant PACA-CA 3 140792021 140792021 single base substitution A G intron_variant PACA-CA 3 140792021 140792021 single base substitution A G upstream_gene_variant PACA-CA 3 140792201 140792201 single base substitution A G intron_variant PACA-CA 3 140792201 140792201 single base substitution A G upstream_gene_variant PACA-CA 3 140793869 140793869 single base substitution A T intron_variant PACA-CA 3 140793869 140793869 single base substitution A T upstream_gene_variant PACA-CA 3 140794799 140794799 single base substitution G A intron_variant PACA-CA 3 140794799 140794799 single base substitution G A upstream_gene_variant PACA-CA 3 140795200 140795200 single base substitution T A intron_variant PACA-CA 3 140795200 140795200 single base substitution T A upstream_gene_variant PACA-CA 3 140795925 140795925 single base substitution T A exon_variant PACA-CA 3 140795925 140795925 single base substitution T A intron_variant PACA-CA 3 140795925 140795925 single base substitution T A upstream_gene_variant PACA-CA 3 140796496 140796496 single base substitution G A intron_variant PACA-CA 3 140796783 140796783 single base substitution C T intron_variant PACA-CA 3 140798826 140798826 single base substitution C G intron_variant PACA-CA 3 140798863 140798863 single base substitution A T intron_variant PACA-CA 3 140799704 140799704 single base substitution T C downstream_gene_variant PACA-CA 3 140799704 140799704 single base substitution T C intron_variant PACA-CA 3 140800157 140800157 single base substitution C T downstream_gene_variant PACA-CA 3 140800157 140800157 single base substitution C T intron_variant PACA-CA 3 140801654 140801654 single base substitution G A downstream_gene_variant PACA-CA 3 140801654 140801654 single base substitution G A intron_variant PACA-CA 3 140802332 140802332 single base substitution C T downstream_gene_variant PACA-CA 3 140802332 140802332 single base substitution C T intron_variant PACA-CA 3 140803606 140803606 single base substitution C T downstream_gene_variant PACA-CA 3 140803606 140803606 single base substitution C T intron_variant PACA-CA 3 140804871 140804871 single base substitution A G intron_variant PACA-CA 3 140805421 140805421 single base substitution T G intron_variant PACA-CA 3 140807279 140807279 single base substitution C T intron_variant PACA-CA 3 140808457 140808457 single base substitution C A intron_variant PACA-CA 3 140808978 140808978 single base substitution T A intron_variant PACA-CA 3 140809234 140809234 single base substitution C T intron_variant PACA-CA 3 140814039 140814039 single base substitution T A intron_variant PACA-CA 3 140815694 140815694 deletion of <=200bp T - intron_variant PACA-CA 3 140816275 140816275 insertion of <=200bp - T intron_variant PACA-CA 3 140818181 140818181 single base substitution C T intron_variant PACA-CA 3 140820384 140820384 single base substitution T A intron_variant PACA-CA 3 140825774 140825774 single base substitution T C intron_variant PACA-CA 3 140826834 140826834 single base substitution C T intron_variant PACA-CA 3 140830311 140830311 single base substitution G A intron_variant PACA-CA 3 140832659 140832659 single base substitution C T intron_variant PACA-CA 3 140833263 140833263 single base substitution G T intron_variant PACA-CA 3 140835522 140835522 single base substitution G A intron_variant PACA-CA 3 140836239 140836239 single base substitution T A intron_variant PACA-CA 3 140836495 140836495 single base substitution C A intron_variant PACA-CA 3 140836748 140836748 single base substitution T C intron_variant PACA-CA 3 140837679 140837679 single base substitution T A intron_variant PACA-CA 3 140846603 140846603 single base substitution G C intron_variant PACA-CA 3 140848035 140848035 single base substitution T A intron_variant PACA-CA 3 140848095 140848095 single base substitution T G intron_variant PACA-CA 3 140848108 140848108 single base substitution G A intron_variant PACA-CA 3 140851072 140851072 single base substitution C T exon_variant PACA-CA 3 140851072 140851072 single base substitution C T intron_variant PACA-CA 3 140853643 140853643 single base substitution C T intron_variant PACA-CA 3 140856506 140856506 single base substitution G A intron_variant PACA-CA 3 140856519 140856519 single base substitution G T intron_variant PACA-CA 3 140857805 140857805 single base substitution G T intron_variant PACA-CA 3 140858512 140858512 single base substitution C G intron_variant PACA-CA 3 140858691 140858691 single base substitution G A intron_variant PACA-CA 3 140859011 140859011 single base substitution T C intron_variant PACA-CA 3 140859090 140859091 deletion of <=200bp AA - intron_variant PACA-CA 3 140859254 140859254 single base substitution T G intron_variant PACA-CA 3 140859560 140859560 single base substitution G A intron_variant PACA-CA 3 140860015 140860015 single base substitution G A intron_variant PACA-CA 3 140863468 140863468 single base substitution C T intron_variant PACA-CA 3 140867304 140867304 single base substitution T A 3_prime_UTR_variant PACA-CA 3 140867304 140867304 single base substitution T A downstream_gene_variant PACA-CA 3 140870553 140870553 single base substitution G A downstream_gene_variant PACA-CA 3 140870573 140870573 single base substitution A G downstream_gene_variant PAEN-AU 3 140775513 140775513 single base substitution C A intron_variant PAEN-AU 3 140811652 140811652 single base substitution G T intron_variant PAEN-AU 3 140843255 140843255 single base substitution G A intron_variant PAEN-IT 3 140807713 140807713 single base substitution C T intron_variant PAEN-IT 3 140852293 140852293 single base substitution C A intron_variant PAEN-IT 3 140860262 140860262 single base substitution G T intron_variant PBCA-DE 3 140767506 140767506 single base substitution G A upstream_gene_variant PBCA-DE 3 140771669 140771669 single base substitution C G intron_variant PBCA-DE 3 140775836 140775836 single base substitution C G intron_variant PBCA-DE 3 140780123 140780123 insertion of <=200bp - A intron_variant PBCA-DE 3 140780623 140780623 single base substitution G C intron_variant PBCA-DE 3 140780623 140780623 single base substitution G C upstream_gene_variant PBCA-DE 3 140787156 140787156 single base substitution G T intron_variant PBCA-DE 3 140792134 140792134 single base substitution C T intron_variant PBCA-DE 3 140792134 140792134 single base substitution C T upstream_gene_variant PBCA-DE 3 140801978 140801978 single base substitution T C downstream_gene_variant PBCA-DE 3 140801978 140801978 single base substitution T C intron_variant PBCA-DE 3 140812111 140812111 single base substitution G C intron_variant PBCA-DE 3 140841318 140841318 single base substitution G A intron_variant PBCA-DE 3 140854181 140854183 deletion of <=200bp TTA - intron_variant PBCA-DE 3 140871010 140871010 single base substitution G C downstream_gene_variant PRAD-CA 3 140786237 140786237 single base substitution G A intron_variant PRAD-CA 3 140809002 140809002 single base substitution T C intron_variant PRAD-CA 3 140833070 140833070 single base substitution G A intron_variant PRAD-CA 3 140842306 140842306 single base substitution C T intron_variant PRAD-CA 3 140844164 140844164 single base substitution G A intron_variant PRAD-CA 3 140853310 140853310 single base substitution C T intron_variant PRAD-CA 3 140859974 140859974 single base substitution G T intron_variant PRAD-UK 3 140766439 140766439 single base substitution T A upstream_gene_variant PRAD-UK 3 140767910 140767910 single base substitution G A upstream_gene_variant PRAD-UK 3 140770722 140770722 single base substitution T C 5_prime_UTR_variant PRAD-UK 3 140773029 140773029 single base substitution C T intron_variant PRAD-UK 3 140798398 140798398 single base substitution A G intron_variant PRAD-UK 3 140800163 140800163 single base substitution A G downstream_gene_variant PRAD-UK 3 140800163 140800163 single base substitution A G intron_variant PRAD-UK 3 140811863 140811863 single base substitution A G intron_variant PRAD-UK 3 140814157 140814157 single base substitution C T intron_variant PRAD-UK 3 140820784 140820784 single base substitution T A intron_variant PRAD-UK 3 140824983 140824983 single base substitution C T intron_variant PRAD-UK 3 140828107 140828107 single base substitution C T intron_variant PRAD-UK 3 140837443 140837459 deletion of <=200bp TTCTAGGGTTTTTATGG - intron_variant PRAD-UK 3 140843817 140843817 single base substitution C T intron_variant PRAD-UK 3 140843992 140843992 single base substitution G C intron_variant PRAD-UK 3 140846447 140846447 single base substitution G T intron_variant PRAD-UK 3 140850340 140850340 single base substitution G A intron_variant PRAD-UK 3 140853849 140853849 single base substitution C A intron_variant PRAD-UK 3 140863365 140863365 single base substitution G A intron_variant PRAD-US 3 140866040 140866040 single base substitution C T 3_prime_UTR_variant PRAD-US 3 140866040 140866040 single base substitution C T exon_variant PRAD-US 3 140866040 140866040 single base substitution C T missense_variant R251C 751C>T RECA-EU 3 140767113 140767113 single base substitution T G upstream_gene_variant RECA-EU 3 140767435 140767435 single base substitution A T upstream_gene_variant RECA-EU 3 140767542 140767542 single base substitution C A upstream_gene_variant RECA-EU 3 140783193 140783193 single base substitution G T intron_variant RECA-EU 3 140783193 140783193 single base substitution G T upstream_gene_variant RECA-EU 3 140819032 140819032 single base substitution G T intron_variant RECA-EU 3 140828918 140828918 single base substitution C A intron_variant RECA-EU 3 140842166 140842166 single base substitution G A intron_variant RECA-EU 3 140844383 140844383 single base substitution A G intron_variant RECA-EU 3 140849418 140849418 single base substitution T C intron_variant RECA-EU 3 140849476 140849476 single base substitution T A intron_variant RECA-EU 3 140858004 140858004 single base substitution G T intron_variant SKCA-BR 3 140766653 140766653 single base substitution G A upstream_gene_variant SKCA-BR 3 140766847 140766847 single base substitution C T upstream_gene_variant SKCA-BR 3 140768690 140768690 single base substitution G A upstream_gene_variant SKCA-BR 3 140769260 140769260 single base substitution C T upstream_gene_variant SKCA-BR 3 140770124 140770124 single base substitution G A upstream_gene_variant SKCA-BR 3 140772674 140772674 single base substitution C T intron_variant SKCA-BR 3 140772796 140772796 single base substitution C T intron_variant SKCA-BR 3 140776288 140776288 single base substitution C T intron_variant SKCA-BR 3 140778339 140778339 single base substitution C G intron_variant SKCA-BR 3 140778350 140778350 single base substitution A G intron_variant SKCA-BR 3 140780992 140780992 single base substitution C A intron_variant SKCA-BR 3 140780992 140780992 single base substitution C A upstream_gene_variant SKCA-BR 3 140781370 140781370 single base substitution C T intron_variant SKCA-BR 3 140781370 140781370 single base substitution C T upstream_gene_variant SKCA-BR 3 140783681 140783681 single base substitution C T intron_variant SKCA-BR 3 140783681 140783681 single base substitution C T upstream_gene_variant SKCA-BR 3 140784333 140784333 single base substitution G A intron_variant SKCA-BR 3 140784333 140784333 single base substitution G A upstream_gene_variant SKCA-BR 3 140785519 140785519 single base substitution C T exon_variant SKCA-BR 3 140785519 140785519 single base substitution C T synonymous_variant I191I 573C>T SKCA-BR 3 140785641 140785641 single base substitution G T splice_donor_variant SKCA-BR 3 140785719 140785719 single base substitution C T intron_variant SKCA-BR 3 140786845 140786845 single base substitution G T intron_variant SKCA-BR 3 140787748 140787748 single base substitution G A intron_variant SKCA-BR 3 140789020 140789020 single base substitution G A intron_variant SKCA-BR 3 140793486 140793486 single base substitution C T intron_variant SKCA-BR 3 140793486 140793486 single base substitution C T upstream_gene_variant SKCA-BR 3 140793671 140793671 single base substitution T C intron_variant SKCA-BR 3 140793671 140793671 single base substitution T C upstream_gene_variant SKCA-BR 3 140793960 140793960 insertion of <=200bp - CAATGCAGTTTCTGAGTCCGT intron_variant SKCA-BR 3 140793960 140793960 insertion of <=200bp - CAATGCAGTTTCTGAGTCCGT upstream_gene_variant SKCA-BR 3 140794288 140794288 single base substitution C T intron_variant SKCA-BR 3 140794288 140794288 single base substitution C T upstream_gene_variant SKCA-BR 3 140794306 140794306 single base substitution C T intron_variant SKCA-BR 3 140794306 140794306 single base substitution C T upstream_gene_variant SKCA-BR 3 140796117 140796117 single base substitution C T exon_variant SKCA-BR 3 140796117 140796117 single base substitution C T intron_variant SKCA-BR 3 140796117 140796117 single base substitution C T upstream_gene_variant SKCA-BR 3 140797930 140797930 single base substitution C T intron_variant SKCA-BR 3 140798483 140798483 single base substitution G A intron_variant SKCA-BR 3 140799425 140799425 single base substitution G A downstream_gene_variant SKCA-BR 3 140799425 140799425 single base substitution G A intron_variant SKCA-BR 3 140801460 140801460 insertion of <=200bp - GCTAT downstream_gene_variant SKCA-BR 3 140801460 140801460 insertion of <=200bp - GCTAT intron_variant SKCA-BR 3 140801465 140801465 single base substitution C G downstream_gene_variant SKCA-BR 3 140801465 140801465 single base substitution C G intron_variant SKCA-BR 3 140801566 140801566 single base substitution T C downstream_gene_variant SKCA-BR 3 140801566 140801566 single base substitution T C intron_variant SKCA-BR 3 140801670 140801670 single base substitution C T downstream_gene_variant SKCA-BR 3 140801670 140801670 single base substitution C T intron_variant SKCA-BR 3 140801733 140801733 single base substitution C T downstream_gene_variant SKCA-BR 3 140801733 140801733 single base substitution C T intron_variant SKCA-BR 3 140801773 140801773 single base substitution G C downstream_gene_variant SKCA-BR 3 140801773 140801773 single base substitution G C intron_variant SKCA-BR 3 140801791 140801791 single base substitution G A downstream_gene_variant SKCA-BR 3 140801791 140801791 single base substitution G A intron_variant SKCA-BR 3 140804077 140804077 single base substitution G A downstream_gene_variant SKCA-BR 3 140804077 140804077 single base substitution G A intron_variant SKCA-BR 3 140804774 140804774 single base substitution C T intron_variant SKCA-BR 3 140806743 140806743 single base substitution G A intron_variant SKCA-BR 3 140806784 140806784 single base substitution G A intron_variant SKCA-BR 3 140808123 140808123 single base substitution G A intron_variant SKCA-BR 3 140808590 140808590 single base substitution G A intron_variant SKCA-BR 3 140809359 140809359 single base substitution G A intron_variant SKCA-BR 3 140811385 140811385 single base substitution G A intron_variant SKCA-BR 3 140811937 140811937 single base substitution C T intron_variant SKCA-BR 3 140816059 140816059 single base substitution C T intron_variant SKCA-BR 3 140816753 140816753 single base substitution C T intron_variant SKCA-BR 3 140817050 140817050 single base substitution G A intron_variant SKCA-BR 3 140817153 140817153 single base substitution C T intron_variant SKCA-BR 3 140817508 140817508 single base substitution C T intron_variant SKCA-BR 3 140818090 140818090 single base substitution G A intron_variant SKCA-BR 3 140819412 140819412 single base substitution C T intron_variant SKCA-BR 3 140820004 140820004 single base substitution G A intron_variant SKCA-BR 3 140821133 140821133 single base substitution G A intron_variant SKCA-BR 3 140821519 140821519 single base substitution T G intron_variant SKCA-BR 3 140822830 140822830 single base substitution C T intron_variant SKCA-BR 3 140824184 140824184 single base substitution C G intron_variant SKCA-BR 3 140825896 140825896 single base substitution C T intron_variant SKCA-BR 3 140826596 140826596 single base substitution C T intron_variant SKCA-BR 3 140826675 140826675 single base substitution T A intron_variant SKCA-BR 3 140829707 140829707 single base substitution C T intron_variant SKCA-BR 3 140830280 140830280 single base substitution G A intron_variant SKCA-BR 3 140833704 140833704 single base substitution G A intron_variant SKCA-BR 3 140837730 140837730 single base substitution T G intron_variant SKCA-BR 3 140837742 140837742 single base substitution G A intron_variant SKCA-BR 3 140838586 140838586 single base substitution G A intron_variant SKCA-BR 3 140839394 140839394 single base substitution C T intron_variant SKCA-BR 3 140839404 140839404 single base substitution C T intron_variant SKCA-BR 3 140839405 140839405 single base substitution T A intron_variant SKCA-BR 3 140839441 140839441 single base substitution A G intron_variant SKCA-BR 3 140842235 140842235 single base substitution C T intron_variant SKCA-BR 3 140842618 140842618 single base substitution G A intron_variant SKCA-BR 3 140844004 140844004 single base substitution G A intron_variant SKCA-BR 3 140844285 140844285 single base substitution A G intron_variant SKCA-BR 3 140845088 140845088 single base substitution C T intron_variant SKCA-BR 3 140845867 140845867 single base substitution C T intron_variant SKCA-BR 3 140845971 140845971 single base substitution C T intron_variant SKCA-BR 3 140846763 140846763 single base substitution C T intron_variant SKCA-BR 3 140847564 140847564 single base substitution G A intron_variant SKCA-BR 3 140848197 140848197 single base substitution G A intron_variant SKCA-BR 3 140849893 140849893 single base substitution G A intron_variant SKCA-BR 3 140852568 140852568 single base substitution C G intron_variant SKCA-BR 3 140852630 140852630 single base substitution G A intron_variant SKCA-BR 3 140852879 140852879 insertion of <=200bp - TTTC intron_variant SKCA-BR 3 140853724 140853724 insertion of <=200bp - CT intron_variant SKCA-BR 3 140855529 140855529 single base substitution C T intron_variant SKCA-BR 3 140856886 140856886 single base substitution C T intron_variant SKCA-BR 3 140857656 140857656 single base substitution G A intron_variant SKCA-BR 3 140857847 140857847 single base substitution G A intron_variant SKCA-BR 3 140857914 140857914 single base substitution C T intron_variant SKCA-BR 3 140858526 140858526 single base substitution G A intron_variant SKCA-BR 3 140859125 140859125 single base substitution C T intron_variant SKCA-BR 3 140859531 140859531 single base substitution G A intron_variant SKCA-BR 3 140859600 140859600 single base substitution G A intron_variant SKCA-BR 3 140860300 140860300 single base substitution C T intron_variant SKCA-BR 3 140860331 140860331 single base substitution C T intron_variant SKCA-BR 3 140860583 140860583 single base substitution C T intron_variant SKCA-BR 3 140860685 140860685 single base substitution A T intron_variant SKCA-BR 3 140861119 140861119 single base substitution C T intron_variant SKCA-BR 3 140861174 140861174 single base substitution C T intron_variant SKCA-BR 3 140862769 140862769 single base substitution G A intron_variant SKCA-BR 3 140863468 140863468 single base substitution C T intron_variant SKCA-BR 3 140863607 140863607 single base substitution G A intron_variant SKCA-BR 3 140863916 140863916 single base substitution G A intron_variant SKCA-BR 3 140864406 140864406 single base substitution C T intron_variant SKCA-BR 3 140866936 140866936 single base substitution G A 3_prime_UTR_variant SKCA-BR 3 140866936 140866936 single base substitution G A downstream_gene_variant SKCA-BR 3 140867322 140867322 single base substitution C T 3_prime_UTR_variant SKCA-BR 3 140867322 140867322 single base substitution C T downstream_gene_variant SKCA-BR 3 140867516 140867516 single base substitution C T downstream_gene_variant SKCA-BR 3 140867884 140867884 single base substitution G A downstream_gene_variant SKCA-BR 3 140869791 140869791 single base substitution C T downstream_gene_variant SKCA-BR 3 140870167 140870181 deletion of <=200bp CTTGTGTGTGTGTGT - downstream_gene_variant SKCA-BR 3 140870167 140870183 deletion of <=200bp CTTGTGTGTGTGTGTGT - downstream_gene_variant SKCA-BR 3 140870207 140870219 deletion of <=200bp TGTGTGTGTGTGC - downstream_gene_variant SKCA-BR 3 140871156 140871156 single base substitution C T downstream_gene_variant SKCA-BR 3 140871225 140871225 single base substitution A C downstream_gene_variant SKCM-US 3 140785431 140785431 single base substitution C T missense_variant P162L 485C>T SKCM-US 3 140785431 140785431 single base substitution C T upstream_gene_variant SKCM-US 3 140785535 140785535 single base substitution C T exon_variant SKCM-US 3 140785535 140785535 single base substitution C T synonymous_variant L197L 589C>T SKCM-US 3 140785549 140785549 single base substitution C T exon_variant SKCM-US 3 140785549 140785549 single base substitution C T synonymous_variant F201F 603C>T SKCM-US 3 140785560 140785560 single base substitution A G exon_variant SKCM-US 3 140785560 140785560 single base substitution A G missense_variant K205R 614A>G SKCM-US 3 140785598 140785598 single base substitution G A exon_variant SKCM-US 3 140785598 140785598 single base substitution G A missense_variant G218S 652G>A SKCM-US 3 140866004 140866004 single base substitution G A 3_prime_UTR_variant SKCM-US 3 140866004 140866004 single base substitution G A exon_variant SKCM-US 3 140866004 140866004 single base substitution G A missense_variant D239N 715G>A SKCM-US 3 140866008 140866008 single base substitution T G 3_prime_UTR_variant SKCM-US 3 140866008 140866008 single base substitution T G exon_variant SKCM-US 3 140866008 140866008 single base substitution T G missense_variant L240R 719T>G SKCM-US 3 140866065 140866065 single base substitution C T 3_prime_UTR_variant SKCM-US 3 140866065 140866065 single base substitution C T exon_variant SKCM-US 3 140866065 140866065 single base substitution C T missense_variant S259F 776C>T SKCM-US 3 140866079 140866079 single base substitution C T 3_prime_UTR_variant SKCM-US 3 140866079 140866079 single base substitution C T exon_variant SKCM-US 3 140866079 140866079 single base substitution C T stop_gained Q264* 790C>T STAD-US 3 140785469 140785469 single base substitution G A missense_variant D175N 523G>A STAD-US 3 140785469 140785469 single base substitution G A upstream_gene_variant STAD-US 3 140785500 140785500 single base substitution A C exon_variant STAD-US 3 140785500 140785500 single base substitution A C missense_variant E185A 554A>C STAD-US 3 140785515 140785515 single base substitution T C exon_variant STAD-US 3 140785515 140785515 single base substitution T C missense_variant F190S 569T>C STAD-US 3 140785534 140785534 single base substitution C T exon_variant STAD-US 3 140785534 140785534 single base substitution C T synonymous_variant Y196Y 588C>T STAD-US 3 140785540 140785540 single base substitution C T exon_variant STAD-US 3 140785540 140785540 single base substitution C T synonymous_variant G198G 594C>T STAD-US 3 140785640 140785640 single base substitution C A missense_variant P232T 694C>A STAD-US 3 140785640 140785640 single base substitution C A splice_region_variant THCA-SA 3 140784929 140784929 single base substitution T C 5_prime_UTR_variant THCA-SA 3 140784929 140784929 single base substitution T C upstream_gene_variant THCA-SA 3 140785175 140785175 single base substitution C A synonymous_variant R77R 229C>A THCA-SA 3 140785175 140785175 single base substitution C A upstream_gene_variant THCA-SA 3 140867094 140867094 single base substitution A G 3_prime_UTR_variant THCA-SA 3 140867094 140867094 single base substitution A G downstream_gene_variant UCEC-US 3 140785550 140785550 single base substitution C T exon_variant UCEC-US 3 140785550 140785550 single base substitution C T stop_gained R202* 604C>T UCEC-US 3 140866029 140866029 single base substitution C T 3_prime_UTR_variant UCEC-US 3 140866029 140866029 single base substitution C T exon_variant UCEC-US 3 140866029 140866029 single base substitution C T missense_variant S247L 740C>T

Mutation - COSMIC Sample Name Mutation ID Mutation CDS Mutation AA Mutation Description Mutation Genome Position Mutation Strand TCGA-F1-6177-01 COSM1419545 c.523G>A p.D175N Substitution - Missense 3:141066627-141066627 + CHC892T COSM4798296 c.222C>T p.T74T Substitution - coding silent 3:141066326-141066326 + T32 COSM5344366 c.280G>A p.A94T Substitution - Missense 3:141066384-141066384 + TCGA-BR-A4CR-01 COSM4114039 c.694C>A p.P232T Substitution - Missense 3:141066798-141066798 + TCGA-EE-A2GL-06 COSM3588168 c.652G>A p.G218S Substitution - Missense 3:141066756-141066756 + TCGA-EE-A2GI-06 COSM3915040 c.485C>T p.P162L Substitution - Missense 3:141066589-141066589 + T3479 COSM4729746 c.211G>A p.D71N Substitution - Missense 3:141066315-141066315 + TCGA-UB-A7MB-01 COSM4931026 c.639G>T p.V213V Substitution - coding silent 3:141066743-141066743 + PTC-54C COSM3759797 c.229C>A p.R77R Substitution - coding silent 3:141066333-141066333 + 2492721 COSM5720148 c.256G>C p.G86R Substitution - Missense 3:141066360-141066360 + 8033484 COSM3392092 c.757C>T p.R253C Substitution - Missense 3:141147204-141147204 + HCC34T COSM1616992 c.594C>T p.G198G Substitution - coding silent 3:141066698-141066698 + TCGA-E1-5319-01 COSM3974194 c.644C>T p.A215V Substitution - Missense 3:141066748-141066748 + ESCC_129 COSM5641930 c.320G>T p.R107L Substitution - Missense 3:141066424-141066424 + TCGA-CK-4950-01 COSM3759797 c.229C>A p.R77R Substitution - coding silent 3:141066333-141066333 + LUAD-S00488 COSM395258 c.83G>T p.G28V Substitution - Missense 3:141066187-141066187 + TCGA-AD-6889-01 COSM1419549 c.697G>A p.E233K Substitution - Missense 3:141147144-141147144 + SC_9092 COSM5570947 c.648G>T p.V216V Substitution - coding silent 3:141066752-141066752 + TCGA-AP-A056-01 COSM1039172 c.740C>T p.S247L Substitution - Missense 3:141147187-141147187 + TCGA-D5-6923-01 COSM1419547 c.573C>T p.I191I Substitution - coding silent 3:141066677-141066677 + RK308_C01 COSM1039171 c.604C>T p.R202* Substitution - Nonsense 3:141066708-141066708 + CSCC-5-T COSM4560112 c.82G>A p.G28S Substitution - Missense 3:141066186-141066186 + ZZUFHECRKL-G040T COSM5431128 c.522C>T p.P174P Substitution - coding silent 3:141066626-141066626 + TCGA-AA-3663-01 COSM3759797 c.229C>A p.R77R Substitution - coding silent 3:141066333-141066333 + CHC892T COSM4798296 c.222C>T p.T74T Substitution - coding silent 3:141066326-141066326 + TCGA-BR-7707-01 COSM4114038 c.588C>T p.Y196Y Substitution - coding silent 3:141066692-141066692 + TCGA-AZ-4615-01 COSM3759797 c.229C>A p.R77R Substitution - coding silent 3:141066333-141066333 + HCC079T COSM5807929 c.186G>T p.S62S Substitution - coding silent 3:141066290-141066290 + 2492723 COSM5720148 c.256G>C p.G86R Substitution - Missense 3:141066360-141066360 + TCGA-AD-6899-01 COSM1419548 c.617G>A p.G206D Substitution - Missense 3:141066721-141066721 + 3N39-VS-3T39 COSM3124589 c.478G>A p.A160T Substitution - Missense 3:141066582-141066582 + TCGA-G4-6586-01 COSM1419545 c.523G>A p.D175N Substitution - Missense 3:141066627-141066627 + PD13302a COSM5783431 c.343G>A p.V115I Substitution - Missense 3:141066447-141066447 + YURAY COSM1419547 c.573C>T p.I191I Substitution - coding silent 3:141066677-141066677 + TCGA-D5-6537-01 COSM3759797 c.229C>A p.R77R Substitution - coding silent 3:141066333-141066333 + TCGA-D1-A167-01 COSM1039171 c.604C>T p.R202* Substitution - Nonsense 3:141066708-141066708 + HCC147T COSM3660223 c.574G>A p.V192M Substitution - Missense 3:141066678-141066678 + 587290 COSM1227441 c.326G>A p.R109H Substitution - Missense 3:141066430-141066430 + HCC34 COSM1616992 c.594C>T p.G198G Substitution - coding silent 3:141066698-141066698 + S02279 COSM5683749 c.468G>T p.Q156H Substitution - Missense 3:141066572-141066572 + TCGA-G2-A2EO-01 COSM1308666 c.681C>G p.I227M Substitution - Missense 3:141066785-141066785 + T3668 COSM3660223 c.574G>A p.V192M Substitution - Missense 3:141066678-141066678 + LOVO COSM4645485 c.86C>T p.A29V Substitution - Missense 3:141066190-141066190 + TCGA-AD-6964-01 COSM1419546 c.566G>A p.S189N Substitution - Missense 3:141066670-141066670 + TCGA-GF-A6C9-06 COSM4901731 c.790C>T p.Q264* Substitution - Nonsense 3:141147237-141147237 + CHC1725T COSM4800658 c.310T>A p.W104R Substitution - Missense 3:141066414-141066414 + RK308_C01 COSM3767282 c.629A>G p.Y210C Substitution - Missense 3:141066733-141066733 + BCM543T COSM4955378 c.208G>T p.D70Y Substitution - Missense 3:141066312-141066312 + tumor_4144633 COSM5947422 c.662A>G p.E221G Substitution - Missense 3:141066766-141066766 + PCSI_0017_Pa_P COSM216619 c.621G>C p.K207N Substitution - Missense 3:141066725-141066725 + CHC1725T COSM4800658 c.310T>A p.W104R Substitution - Missense 3:141066414-141066414 + CCK81 COSM4620804 c.100C>G p.P34A Substitution - Missense 3:141066204-141066204 + TCGA-EE-A2GO-06 COSM3588166 c.603C>T p.F201F Substitution - coding silent 3:141066707-141066707 + 61 COSM5736778 c.419G>A p.W140* Substitution - Nonsense 3:141066523-141066523 + TCGA-J9-A52C-01 COSM3124598 c.751C>T p.R251C Substitution - Missense 3:141147198-141147198 + ESCC_146 COSM5644711 c.389C>T p.T130M Substitution - Missense 3:141066493-141066493 + TCGA-BR-4361-01 COSM4114037 c.569T>C p.F190S Substitution - Missense 3:141066673-141066673 + TCGA-EB-A42Z-01 COSM3588167 c.614A>G p.K205R Substitution - Missense 3:141066718-141066718 + LS411 COSM4646705 c.264C>T p.R88R Substitution - coding silent 3:141066368-141066368 + TCGA-GF-A6C9-06 COSM4902958 c.776C>T p.S259F Substitution - Missense 3:141147223-141147223 + CSCC-55-T COSM4472845 c.180C>T p.D60D Substitution - coding silent 3:141066284-141066284 + CSCC-31-T COSM4482688 c.262C>T p.R88C Substitution - Missense 3:141066366-141066366 + 98735 COSM323592 c.640A>G p.S214G Substitution - Missense 3:141066744-141066744 + CSCC-10-T COSM4466349 c.142C>T p.L48L Substitution - coding silent 3:141066246-141066246 + TCGA-D5-6541-01 COSM5164485 c.198C>A p.F66L Substitution - Missense 3:141066302-141066302 + ESO-887 COSM1266699 c.781C>A p.P261T Substitution - Missense 3:141147228-141147228 + HCC147 COSM3660223 c.574G>A p.V192M Substitution - Missense 3:141066678-141066678 + CSCC-20-T COSM4547615 c.426G>A p.W142* Substitution - Nonsense 3:141066530-141066530 + T2643 COSM4729745 c.192C>T p.N64N Substitution - coding silent 3:141066296-141066296 + tumor_4128852 COSM4729745 c.192C>T p.N64N Substitution - coding silent 3:141066296-141066296 + TCGA-HU-A4H3-01 COSM1616992 c.594C>T p.G198G Substitution - coding silent 3:141066698-141066698 + BCM543T COSM4955378 c.208G>T p.D70Y Substitution - Missense 3:141066312-141066312 + I2L-P9-Tumor-Organoid COSM5355711 c.181C>T p.R61C Substitution - Missense 3:141066285-141066285 + PD13602a COSM5795594 c.106C>T p.R36W Substitution - Missense 3:141066210-141066210 + TCGA-AZ-4615-01 COSM5140062 c.182G>A p.R61H Substitution - Missense 3:141066286-141066286 + CSCC-31-T COSM4529164 c.158G>A p.R53Q Substitution - Missense 3:141066262-141066262 + S01170 COSM3915040 c.485C>T p.P162L Substitution - Missense 3:141066589-141066589 + TCGA-HU-8602-01 COSM4114036 c.554A>C p.E185A Substitution - Missense 3:141066658-141066658 + TCGA-AA-3812-01 COSM293852 c.820T>C p.*274R Nonstop extension 3:141147267-141147267 + T4 COSM3759797 c.229C>A p.R77R Substitution - coding silent 3:141066333-141066333 + LOVO COSM4645484 c.63G>A p.P21P Substitution - coding silent 3:141066167-141066167 + 19M COSM5579648 c.501C>T p.P167P Substitution - coding silent 3:141066605-141066605 + 2492720 COSM5720148 c.256G>C p.G86R Substitution - Missense 3:141066360-141066360 + TCGA-12-5295-01 COSM3408289 c.756G>A p.Q252Q Substitution - coding silent 3:141147203-141147203 + B099 COSM308159 c.592G>T p.G198C Substitution - Missense 3:141066696-141066696 + TCGA-EE-A29E-06 COSM3588165 c.589C>T p.L197L Substitution - coding silent 3:141066693-141066693 + TCGA-AY-6386-01 COSM3759797 c.229C>A p.R77R Substitution - coding silent 3:141066333-141066333 + S02299 COSM5690628 c.244C>T p.Q82* Substitution - Nonsense 3:141066348-141066348 + CSCC-41-T COSM4550649 c.505G>A p.E169K Substitution - Missense 3:141066609-141066609 + T5 COSM3759797 c.229C>A p.R77R Substitution - coding silent 3:141066333-141066333 + TCGA-EE-A3J7-06 COSM3915041 c.715G>A p.D239N Substitution - Missense 3:141147162-141147162 + I2L-P9-Tumor-Biopsy COSM5355711 c.181C>T p.R61C Substitution - Missense 3:141066285-141066285 + TCGA-G4-6299-01 COSM1419544 c.175G>A p.E59K Substitution - Missense 3:141066279-141066279 + 2492722 COSM5720148 c.256G>C p.G86R Substitution - Missense 3:141066360-141066360 + TCGA-EB-A3Y7-01 COSM3588169 c.719T>G p.L240R Substitution - Missense 3:141147166-141147166 + PCSI_0017_Pa_X COSM216619 c.621G>C p.K207N Substitution - Missense 3:141066725-141066725 +

Mutation - CGAP UNIGENE CYTOBAND OMIM SNP Hs.655112 3q23 611660 2401675|CGAP|BC008324|A/G|non-coding||2058|Validated

Mutation - IntOGen Mutated from(ref) Mutated to(alt) Consequence Type AA Mutation CDS Mutation Chr Pos Cancer A G IntronicSNV . c.694+10361A>G 3 140796001 HC A G Missense p.S214G c.640A>G 3 140785586 SCLC C A 3-UTRSNV . c.819+380C>A 3 140866488 HC C A Missense p.P261T c.781C>A 3 140866070 ESCA C G Missense p.I227M c.681C>G 3 140785627 BLCA C T Missense p.A215V c.644C>T 3 140785590 LGG C T Missense p.P162L c.485C>T 3 140785431 CM C T Synonymous p.F201F c.603C>T 3 140785549 CM C T Synonymous p.N228N c.684C>T 3 140785630 HNSC C T Synonymous p.P234P c.702C>T 3 140865991 CM G A Missense p.D175N c.523G>A 3 140785469 STAD G A Missense p.D239N c.715G>A 3 140866004 CM G A Missense p.G166E c.497G>A 3 140785443 CM G A Missense p.G218S c.652G>A 3 140785598 CM G A Synonymous p.Q252Q c.756G>A 3 140866045 GBM G C Missense p.K207N c.621G>C 3 140785567 PAAD T C 3-UTRSNV . c.819+1T>C 3 140866109 COREAD T G IntronicSNV . c.695-30027T>G 3 140835957 DLBCL