Mutation - TCGA Type Chromosome Start Position End Position Strand Variant Classification Variant Type Reference Allele Tumor_seq Allele 1 Tumor_seq Allele 2 Tumor Sample Barcode Matched Norm Sample Barcode Genome Change cDNA Change Codon Change Protein Change BLCA 7 129474824 129474824 + Missense_Mutation SNP A A C TCGA-ZF-AA4V-01A-11D-A38G-08 TCGA-ZF-AA4V-10A-01D-A38J-08 g.chr7:129474824A>C c.505T>G c.(505-507)Tct>Gct p.S169A BLCA 7 129474841 129474841 + Missense_Mutation SNP T T C TCGA-DK-A6AW-01A-11D-A30E-08 TCGA-DK-A6AW-10A-01D-A30H-08 g.chr7:129474841T>C c.488A>G c.(487-489)gAc>gGc p.D163G BLCA 7 129519417 129519417 + Missense_Mutation SNP G G T TCGA-ZF-AA51-01A-21D-A391-08 TCGA-ZF-AA51-10A-01D-A394-08 g.chr7:129519417G>T c.196C>A c.(196-198)Cca>Aca p.P66T CESC 7 129474842 129474842 + Missense_Mutation SNP C C T TCGA-DS-A0VN-01A-21D-A10S-08 TCGA-DS-A0VN-10A-01D-A10S-08 g.chr7:129474842C>T c.487G>A c.(487-489)Gac>Aac p.D163N CESC 7 129497387 129497387 + Silent SNP G G A TCGA-LP-A5U2-01A-11D-A28B-09 TCGA-LP-A5U2-10A-01D-A28E-09 g.chr7:129497387G>A c.262C>T c.(262-264)Cta>Tta p.L88L COAD 7 129474885 129474885 + Silent SNP G G A TCGA-G4-6586-01A-11D-1771-10 TCGA-G4-6586-10A-01D-1771-10 g.chr7:129474885G>A c.444C>T c.(442-444)taC>taT p.Y148Y COAD 7 129479123 129479123 + Silent SNP G G A TCGA-AZ-6598-01A-11D-1771-10 TCGA-AZ-6598-11A-01D-1771-10 g.chr7:129479123G>A c.351C>T c.(349-351)aaC>aaT p.N117N COAD 7 129479124 129479124 + Missense_Mutation SNP T T C TCGA-A6-5660-01A-01D-1650-10 TCGA-A6-5660-10A-01D-1650-10 g.chr7:129479124T>C c.350A>G c.(349-351)aAc>aGc p.N117S COAD 7 129479124 129479124 + Missense_Mutation SNP T T C TCGA-CM-4752-01A-01D-1408-10 TCGA-CM-4752-10A-01D-1408-10 g.chr7:129479124T>C c.350A>G c.(349-351)aAc>aGc p.N117S COADREAD 7 129474885 129474885 + Silent SNP G G A TCGA-G4-6586-01A-11D-1771-10 TCGA-G4-6586-10A-01D-1771-10 g.chr7:129474885G>A c.444C>T c.(442-444)taC>taT p.Y148Y COADREAD 7 129479123 129479123 + Silent SNP G G A TCGA-AZ-6598-01A-11D-1771-10 TCGA-AZ-6598-11A-01D-1771-10 g.chr7:129479123G>A c.351C>T c.(349-351)aaC>aaT p.N117N COADREAD 7 129479123 129479123 + Silent SNP G G A TCGA-DC-6683-01A-11D-1826-10 TCGA-DC-6683-10A-01D-1826-10 g.chr7:129479123G>A c.351C>T c.(349-351)aaC>aaT p.N117N COADREAD 7 129479124 129479124 + Missense_Mutation SNP T T C TCGA-A6-5660-01A-01D-1650-10 TCGA-A6-5660-10A-01D-1650-10 g.chr7:129479124T>C c.350A>G c.(349-351)aAc>aGc p.N117S COADREAD 7 129479124 129479124 + Missense_Mutation SNP T T C TCGA-CM-4752-01A-01D-1408-10 TCGA-CM-4752-10A-01D-1408-10 g.chr7:129479124T>C c.350A>G c.(349-351)aAc>aGc p.N117S ESCA 7 129498753 129498753 + Missense_Mutation SNP G G T TCGA-Z6-A9VB-01A-21D-A37C-09 TCGA-Z6-A9VB-10A-01D-A37F-09 g.chr7:129498753G>T c.234C>A c.(232-234)aaC>aaA p.N78K GBMLGG 7 129474840 129474840 + Silent SNP G G A TCGA-DU-6392-01A-11D-1705-08 TCGA-DU-6392-10A-01D-1705-08 g.chr7:129474840G>A c.489C>T c.(487-489)gaC>gaT p.D163D GBMLGG 7 129474885 129474885 + Silent SNP G G A TCGA-DU-A76K-01A-11D-A33T-08 TCGA-DU-A76K-10A-01D-A33W-08 g.chr7:129474885G>A c.444C>T c.(442-444)taC>taT p.Y148Y KIPAN 7 129479130 129479130 + Missense_Mutation SNP T T A TCGA-CJ-5682-01A-11D-1534-10 TCGA-CJ-5682-11A-01D-1535-10 g.chr7:129479130T>A c.344A>T c.(343-345)tAt>tTt p.Y115F KIPAN 7 129592346 129592346 + Missense_Mutation SNP T T A TCGA-BP-4982-01A-01D-1462-08 TCGA-BP-4982-11A-01D-1462-08 g.chr7:129592346T>A c.50A>T c.(49-51)aAg>aTg p.K17M KIRC 7 129479130 129479130 + Missense_Mutation SNP T T A TCGA-CJ-5682-01A-11D-1534-10 TCGA-CJ-5682-11A-01D-1535-10 g.chr7:129479130T>A c.344A>T c.(343-345)tAt>tTt p.Y115F KIRC 7 129592346 129592346 + Missense_Mutation SNP T T A TCGA-BP-4982-01A-01D-1462-08 TCGA-BP-4982-11A-01D-1462-08 g.chr7:129592346T>A c.50A>T c.(49-51)aAg>aTg p.K17M LGG 7 129474840 129474840 + Silent SNP G G A TCGA-DU-6392-01A-11D-1705-08 TCGA-DU-6392-10A-01D-1705-08 g.chr7:129474840G>A c.489C>T c.(487-489)gaC>gaT p.D163D LGG 7 129474885 129474885 + Silent SNP G G A TCGA-DU-A76K-01A-11D-A33T-08 TCGA-DU-A76K-10A-01D-A33W-08 g.chr7:129474885G>A c.444C>T c.(442-444)taC>taT p.Y148Y READ 7 129479123 129479123 + Silent SNP G G A TCGA-DC-6683-01A-11D-1826-10 TCGA-DC-6683-10A-01D-1826-10 g.chr7:129479123G>A c.351C>T c.(349-351)aaC>aaT p.N117N SKCM 7 129497352 129497352 + Splice_Site SNP A A C TCGA-EE-A3JI-06A-11D-A21A-08 TCGA-EE-A3JI-10A-01D-A21A-08 g.chr7:129497352A>C c.297T>G c.(295-297)taT>taG p.Y99*

Mutation - ICGC Project Code Chromosome Chromosome Start Chromosome End Mutation Type Mutated from Allele Mutated to Allele Consequence Type AA Mutation CDS Mutation ALL-US 7 129474845 129474845 single base substitution C T downstream_gene_variant ALL-US 7 129474845 129474845 single base substitution C T exon_variant ALL-US 7 129474845 129474845 single base substitution C T missense_variant G129R 385G>A ALL-US 7 129474845 129474845 single base substitution C T missense_variant G131R 391G>A ALL-US 7 129474845 129474845 single base substitution C T missense_variant G162R 484G>A BOCA-FR 7 129476925 129476925 single base substitution A G downstream_gene_variant BOCA-FR 7 129476925 129476925 single base substitution A G intron_variant BOCA-FR 7 129484062 129484062 single base substitution T C intron_variant BOCA-FR 7 129484062 129484062 single base substitution T C upstream_gene_variant BRCA-EU 7 129465977 129465977 single base substitution G C downstream_gene_variant BRCA-EU 7 129466616 129466616 single base substitution A T downstream_gene_variant BRCA-EU 7 129467495 129467495 single base substitution G C downstream_gene_variant BRCA-EU 7 129468295 129468295 single base substitution C A downstream_gene_variant BRCA-EU 7 129468745 129468745 single base substitution G C downstream_gene_variant BRCA-EU 7 129468775 129468775 single base substitution G A downstream_gene_variant BRCA-EU 7 129469504 129469504 single base substitution G A downstream_gene_variant BRCA-EU 7 129470730 129470730 single base substitution C G 3_prime_UTR_variant BRCA-EU 7 129470730 129470730 single base substitution C G downstream_gene_variant BRCA-EU 7 129470770 129470770 single base substitution G C 3_prime_UTR_variant BRCA-EU 7 129470770 129470770 single base substitution G C downstream_gene_variant BRCA-EU 7 129471319 129471319 single base substitution C G 3_prime_UTR_variant BRCA-EU 7 129471319 129471319 single base substitution C G downstream_gene_variant BRCA-EU 7 129471757 129471757 single base substitution G T 3_prime_UTR_variant BRCA-EU 7 129471757 129471757 single base substitution G T downstream_gene_variant BRCA-EU 7 129472781 129472781 single base substitution C A 3_prime_UTR_variant BRCA-EU 7 129472781 129472781 single base substitution C A downstream_gene_variant BRCA-EU 7 129472950 129472950 single base substitution A T 3_prime_UTR_variant BRCA-EU 7 129472950 129472950 single base substitution A T downstream_gene_variant BRCA-EU 7 129473075 129473075 single base substitution G C 3_prime_UTR_variant BRCA-EU 7 129473075 129473075 single base substitution G C downstream_gene_variant BRCA-EU 7 129474472 129474472 single base substitution G A 3_prime_UTR_variant BRCA-EU 7 129474472 129474472 single base substitution G A downstream_gene_variant BRCA-EU 7 129474923 129474923 single base substitution C T downstream_gene_variant BRCA-EU 7 129474923 129474923 single base substitution C T intron_variant BRCA-EU 7 129475486 129475486 single base substitution A C downstream_gene_variant BRCA-EU 7 129475486 129475486 single base substitution A C intron_variant BRCA-EU 7 129476562 129476562 single base substitution T C downstream_gene_variant BRCA-EU 7 129476562 129476562 single base substitution T C intron_variant BRCA-EU 7 129477311 129477311 single base substitution G A downstream_gene_variant BRCA-EU 7 129477311 129477311 single base substitution G A intron_variant BRCA-EU 7 129477483 129477483 single base substitution G C downstream_gene_variant BRCA-EU 7 129477483 129477483 single base substitution G C intron_variant BRCA-EU 7 129479546 129479546 deletion of <=200bp T - exon_variant BRCA-EU 7 129479546 129479546 deletion of <=200bp T - intron_variant BRCA-EU 7 129480206 129480206 single base substitution T A intron_variant BRCA-EU 7 129480206 129480206 single base substitution T A upstream_gene_variant BRCA-EU 7 129481340 129481340 single base substitution T A intron_variant BRCA-EU 7 129481340 129481340 single base substitution T A upstream_gene_variant BRCA-EU 7 129481341 129481341 single base substitution G T intron_variant BRCA-EU 7 129481341 129481341 single base substitution G T upstream_gene_variant BRCA-EU 7 129483107 129483107 deletion of <=200bp G - intron_variant BRCA-EU 7 129483107 129483107 deletion of <=200bp G - upstream_gene_variant BRCA-EU 7 129485257 129485257 single base substitution C T intron_variant BRCA-EU 7 129487489 129487489 single base substitution G A intron_variant BRCA-EU 7 129490114 129490114 single base substitution G C intron_variant BRCA-EU 7 129491100 129491100 deletion of <=200bp T - intron_variant BRCA-EU 7 129491408 129491408 single base substitution A G intron_variant BRCA-EU 7 129492256 129492256 single base substitution G A downstream_gene_variant BRCA-EU 7 129492256 129492256 single base substitution G A intron_variant BRCA-EU 7 129494177 129494177 single base substitution G A downstream_gene_variant BRCA-EU 7 129494177 129494177 single base substitution G A intron_variant BRCA-EU 7 129495191 129495191 single base substitution A C downstream_gene_variant BRCA-EU 7 129495191 129495191 single base substitution A C intron_variant BRCA-EU 7 129495692 129495692 single base substitution G A downstream_gene_variant BRCA-EU 7 129495692 129495692 single base substitution G A intron_variant BRCA-EU 7 129497297 129497297 deletion of <=200bp T - downstream_gene_variant BRCA-EU 7 129497297 129497297 deletion of <=200bp T - exon_variant BRCA-EU 7 129497297 129497297 deletion of <=200bp T - intron_variant BRCA-EU 7 129501474 129501474 single base substitution G A intron_variant BRCA-EU 7 129501474 129501474 single base substitution G A upstream_gene_variant BRCA-EU 7 129503261 129503261 single base substitution C T intron_variant BRCA-EU 7 129503261 129503261 single base substitution C T upstream_gene_variant BRCA-EU 7 129503436 129503436 single base substitution G C intron_variant BRCA-EU 7 129503436 129503436 single base substitution G C upstream_gene_variant BRCA-EU 7 129503916 129503916 single base substitution G A intron_variant BRCA-EU 7 129505258 129505258 single base substitution T C intron_variant BRCA-EU 7 129505353 129505353 single base substitution G A intron_variant BRCA-EU 7 129506395 129506395 single base substitution G T intron_variant BRCA-EU 7 129506724 129506724 single base substitution G A intron_variant BRCA-EU 7 129507333 129507333 single base substitution G C intron_variant BRCA-EU 7 129510026 129510026 single base substitution G C intron_variant BRCA-EU 7 129510116 129510116 single base substitution C G intron_variant BRCA-EU 7 129510248 129510248 insertion of <=200bp - A intron_variant BRCA-EU 7 129510973 129510973 single base substitution T C intron_variant BRCA-EU 7 129511006 129511006 single base substitution T C intron_variant BRCA-EU 7 129511455 129511455 single base substitution G A intron_variant BRCA-EU 7 129512379 129512379 deletion of <=200bp A - intron_variant BRCA-EU 7 129512577 129512577 single base substitution G T intron_variant BRCA-EU 7 129513768 129513768 single base substitution C G intron_variant BRCA-EU 7 129515550 129515550 single base substitution T C intron_variant BRCA-EU 7 129520444 129520444 single base substitution G C intron_variant BRCA-EU 7 129521071 129521071 single base substitution C G intron_variant BRCA-EU 7 129521071 129521071 single base substitution C G upstream_gene_variant BRCA-EU 7 129521407 129521407 single base substitution G C intron_variant BRCA-EU 7 129521407 129521407 single base substitution G C upstream_gene_variant BRCA-EU 7 129521794 129521794 deletion of <=200bp A - intron_variant BRCA-EU 7 129521794 129521794 deletion of <=200bp A - upstream_gene_variant BRCA-EU 7 129523009 129523009 single base substitution C T intron_variant BRCA-EU 7 129523009 129523009 single base substitution C T upstream_gene_variant BRCA-EU 7 129523880 129523880 single base substitution G C intron_variant BRCA-EU 7 129523880 129523880 single base substitution G C upstream_gene_variant BRCA-EU 7 129525476 129525476 single base substitution T A intron_variant BRCA-EU 7 129525476 129525476 single base substitution T A upstream_gene_variant BRCA-EU 7 129528253 129528253 single base substitution A C intron_variant BRCA-EU 7 129528501 129528501 single base substitution G A intron_variant BRCA-EU 7 129530955 129530955 deletion of <=200bp G - intron_variant BRCA-EU 7 129531059 129531059 single base substitution C G intron_variant BRCA-EU 7 129531150 129531151 deletion of <=200bp TA - intron_variant BRCA-EU 7 129531490 129531490 single base substitution A G intron_variant BRCA-EU 7 129531942 129531942 single base substitution G A intron_variant BRCA-EU 7 129532245 129532245 single base substitution C A intron_variant BRCA-EU 7 129533045 129533045 single base substitution T C intron_variant BRCA-EU 7 129533762 129533762 single base substitution G A intron_variant BRCA-EU 7 129535037 129535037 single base substitution A C intron_variant BRCA-EU 7 129535425 129535425 single base substitution C A intron_variant BRCA-EU 7 129535489 129535489 single base substitution G A intron_variant BRCA-EU 7 129535596 129535596 deletion of <=200bp C - intron_variant BRCA-EU 7 129536502 129536502 single base substitution C G intron_variant BRCA-EU 7 129537636 129537636 single base substitution A T intron_variant BRCA-EU 7 129537973 129537973 single base substitution G C intron_variant BRCA-EU 7 129538264 129538264 single base substitution A G intron_variant BRCA-EU 7 129538913 129538913 single base substitution A G intron_variant BRCA-EU 7 129540245 129540245 single base substitution G C intron_variant BRCA-EU 7 129540260 129540260 single base substitution T C intron_variant BRCA-EU 7 129541268 129541268 single base substitution G A intron_variant BRCA-EU 7 129541721 129541721 single base substitution C A intron_variant BRCA-EU 7 129543089 129543089 single base substitution G T intron_variant BRCA-EU 7 129545141 129545141 single base substitution G C intron_variant BRCA-EU 7 129545408 129545408 single base substitution G C intron_variant BRCA-EU 7 129546212 129546212 single base substitution T C intron_variant BRCA-EU 7 129546502 129546502 insertion of <=200bp - A intron_variant BRCA-EU 7 129546809 129546809 single base substitution T G intron_variant BRCA-EU 7 129547233 129547233 single base substitution G A intron_variant BRCA-EU 7 129547701 129547701 deletion of <=200bp A - intron_variant BRCA-EU 7 129547964 129547964 single base substitution G C intron_variant BRCA-EU 7 129548386 129548386 single base substitution C T intron_variant BRCA-EU 7 129548877 129548877 single base substitution A T intron_variant BRCA-EU 7 129548908 129548908 insertion of <=200bp - A intron_variant BRCA-EU 7 129549082 129549082 single base substitution G A intron_variant BRCA-EU 7 129551796 129551796 single base substitution A G intron_variant BRCA-EU 7 129553130 129553130 single base substitution G C intron_variant BRCA-EU 7 129553551 129553551 single base substitution C G intron_variant BRCA-EU 7 129553555 129553555 single base substitution G A intron_variant BRCA-EU 7 129553643 129553643 single base substitution C T intron_variant BRCA-EU 7 129554596 129554596 single base substitution G C intron_variant BRCA-EU 7 129555060 129555060 single base substitution C G intron_variant BRCA-EU 7 129557020 129557020 single base substitution G A intron_variant BRCA-EU 7 129562924 129562924 single base substitution T C intron_variant BRCA-EU 7 129564792 129564792 single base substitution A T intron_variant BRCA-EU 7 129564905 129564905 single base substitution A G intron_variant BRCA-EU 7 129568032 129568032 single base substitution A G intron_variant BRCA-EU 7 129568733 129568733 single base substitution T A intron_variant BRCA-EU 7 129569863 129569863 deletion of <=200bp A - intron_variant BRCA-EU 7 129569871 129569871 single base substitution C T intron_variant BRCA-EU 7 129570519 129570519 single base substitution C T intron_variant BRCA-EU 7 129570892 129570892 single base substitution C G intron_variant BRCA-EU 7 129571921 129571921 single base substitution C T intron_variant BRCA-EU 7 129572504 129572504 single base substitution C T intron_variant BRCA-EU 7 129572524 129572524 single base substitution G A intron_variant BRCA-EU 7 129573858 129573858 single base substitution A G intron_variant BRCA-EU 7 129576122 129576122 single base substitution A C intron_variant BRCA-EU 7 129578697 129578697 insertion of <=200bp - G intron_variant BRCA-EU 7 129581914 129581925 deletion of <=200bp GTGGCACACGCC - intron_variant BRCA-EU 7 129581977 129581977 single base substitution C T intron_variant BRCA-EU 7 129582488 129582488 single base substitution G C intron_variant BRCA-EU 7 129582725 129582725 single base substitution G A intron_variant BRCA-EU 7 129583020 129583020 deletion of <=200bp T - intron_variant BRCA-EU 7 129583726 129583726 insertion of <=200bp - A intron_variant BRCA-EU 7 129584174 129584174 single base substitution G C intron_variant BRCA-EU 7 129584647 129584647 deletion of <=200bp A - intron_variant BRCA-EU 7 129585735 129585735 single base substitution G A intron_variant BRCA-EU 7 129585827 129585827 single base substitution C A intron_variant BRCA-EU 7 129585910 129585910 single base substitution T C intron_variant BRCA-EU 7 129586533 129586533 single base substitution T A intron_variant BRCA-EU 7 129587414 129587415 deletion of <=200bp AT - intron_variant BRCA-EU 7 129587423 129587423 single base substitution T C intron_variant BRCA-EU 7 129588042 129588042 single base substitution C T intron_variant BRCA-EU 7 129588433 129588433 single base substitution G C intron_variant BRCA-EU 7 129588572 129588572 single base substitution T C intron_variant BRCA-EU 7 129589049 129589049 single base substitution G T intron_variant BRCA-EU 7 129589424 129589424 single base substitution G T intron_variant BRCA-EU 7 129591199 129591199 single base substitution G A intron_variant BRCA-EU 7 129591199 129591199 single base substitution G A upstream_gene_variant BRCA-EU 7 129591835 129591835 single base substitution T C intron_variant BRCA-EU 7 129591835 129591835 single base substitution T C upstream_gene_variant BRCA-EU 7 129593293 129593293 single base substitution A T upstream_gene_variant BRCA-EU 7 129594126 129594126 single base substitution A G upstream_gene_variant BRCA-EU 7 129595742 129595742 single base substitution G T upstream_gene_variant BRCA-EU 7 129595778 129595778 single base substitution G A upstream_gene_variant BRCA-EU 7 129596047 129596047 single base substitution C T upstream_gene_variant BRCA-EU 7 129596076 129596076 single base substitution G T upstream_gene_variant BRCA-EU 7 129596236 129596236 deletion of <=200bp A - upstream_gene_variant BRCA-EU 7 129596244 129596244 single base substitution A T upstream_gene_variant BRCA-EU 7 129596493 129596493 single base substitution G A upstream_gene_variant BRCA-EU 7 129596703 129596703 single base substitution G A upstream_gene_variant BRCA-EU 7 129596884 129596884 single base substitution G C upstream_gene_variant BRCA-EU 7 129596997 129596997 single base substitution C T upstream_gene_variant BRCA-FR 7 129467495 129467495 single base substitution G C downstream_gene_variant BRCA-FR 7 129470770 129470770 single base substitution G C 3_prime_UTR_variant BRCA-FR 7 129470770 129470770 single base substitution G C downstream_gene_variant BRCA-FR 7 129471757 129471757 single base substitution G T 3_prime_UTR_variant BRCA-FR 7 129471757 129471757 single base substitution G T downstream_gene_variant BRCA-FR 7 129492256 129492256 single base substitution G A downstream_gene_variant BRCA-FR 7 129492256 129492256 single base substitution G A intron_variant BRCA-FR 7 129503731 129503731 single base substitution G A intron_variant BRCA-FR 7 129503731 129503731 single base substitution G A upstream_gene_variant BRCA-FR 7 129507333 129507333 single base substitution G C intron_variant BRCA-FR 7 129510026 129510026 single base substitution G C intron_variant BRCA-FR 7 129523880 129523880 single base substitution G C intron_variant BRCA-FR 7 129523880 129523880 single base substitution G C upstream_gene_variant BRCA-FR 7 129526445 129526445 single base substitution G A intron_variant BRCA-FR 7 129531059 129531059 single base substitution C G intron_variant BRCA-FR 7 129547233 129547233 single base substitution G A intron_variant BRCA-FR 7 129547964 129547964 single base substitution G C intron_variant BRCA-FR 7 129553130 129553130 single base substitution G C intron_variant BRCA-FR 7 129553555 129553555 single base substitution G A intron_variant BRCA-FR 7 129557020 129557020 single base substitution G A intron_variant BRCA-FR 7 129557087 129557087 single base substitution C T intron_variant BRCA-FR 7 129561985 129561985 single base substitution G A intron_variant BRCA-FR 7 129586093 129586093 single base substitution T G intron_variant BRCA-FR 7 129586856 129586856 single base substitution C G intron_variant BRCA-FR 7 129588433 129588433 single base substitution G C intron_variant BRCA-FR 7 129589889 129589889 single base substitution T C intron_variant BRCA-FR 7 129595778 129595778 single base substitution G A upstream_gene_variant BRCA-FR 7 129596458 129596458 single base substitution C A upstream_gene_variant BRCA-UK 7 129468745 129468745 single base substitution G C downstream_gene_variant BRCA-UK 7 129480206 129480206 single base substitution T A intron_variant BRCA-UK 7 129480206 129480206 single base substitution T A upstream_gene_variant BRCA-UK 7 129503916 129503916 single base substitution G A intron_variant BRCA-UK 7 129504909 129504909 single base substitution G A intron_variant BRCA-UK 7 129504909 129504909 single base substitution G A splice_region_variant BRCA-UK 7 129545408 129545408 single base substitution G C intron_variant BRCA-UK 7 129568587 129568587 single base substitution G C intron_variant BRCA-UK 7 129595742 129595742 single base substitution G T upstream_gene_variant BTCA-JP 7 129497297 129497297 deletion of <=200bp T - downstream_gene_variant BTCA-JP 7 129497297 129497297 deletion of <=200bp T - exon_variant BTCA-JP 7 129497297 129497297 deletion of <=200bp T - intron_variant BTCA-JP 7 129504797 129504797 single base substitution G A intron_variant BTCA-JP 7 129504866 129504866 single base substitution C G 3_prime_UTR_variant BTCA-JP 7 129504866 129504866 single base substitution C G intron_variant BTCA-JP 7 129519555 129519555 single base substitution C T intron_variant BTCA-JP 7 129520773 129520773 single base substitution A C 5_prime_UTR_variant BTCA-JP 7 129520773 129520773 single base substitution A C exon_variant BTCA-JP 7 129520773 129520773 single base substitution A C missense_variant L31R 92T>G BTCA-JP 7 129520773 129520773 single base substitution A C missense_variant L47R 140T>G CESC-US 7 129474842 129474842 single base substitution C T downstream_gene_variant CESC-US 7 129474842 129474842 single base substitution C T exon_variant CESC-US 7 129474842 129474842 single base substitution C T missense_variant D130N 388G>A CESC-US 7 129474842 129474842 single base substitution C T missense_variant D132N 394G>A CESC-US 7 129474842 129474842 single base substitution C T missense_variant D163N 487G>A CESC-US 7 129497387 129497387 single base substitution G A 3_prime_UTR_variant CESC-US 7 129497387 129497387 single base substitution G A downstream_gene_variant CESC-US 7 129497387 129497387 single base substitution G A exon_variant CESC-US 7 129497387 129497387 single base substitution G A intron_variant CESC-US 7 129497387 129497387 single base substitution G A synonymous_variant L55L 163C>T CESC-US 7 129497387 129497387 single base substitution G A synonymous_variant L88L 262C>T CLLE-ES 7 129466819 129466819 single base substitution T C downstream_gene_variant CLLE-ES 7 129495549 129495549 single base substitution T C downstream_gene_variant CLLE-ES 7 129495549 129495549 single base substitution T C intron_variant CLLE-ES 7 129555556 129555556 single base substitution T C intron_variant CLLE-ES 7 129574797 129574797 single base substitution G A intron_variant COAD-US 7 129474885 129474885 single base substitution G A downstream_gene_variant COAD-US 7 129474885 129474885 single base substitution G A exon_variant COAD-US 7 129474885 129474885 single base substitution G A synonymous_variant Y115Y 345C>T COAD-US 7 129474885 129474885 single base substitution G A synonymous_variant Y117Y 351C>T COAD-US 7 129474885 129474885 single base substitution G A synonymous_variant Y148Y 444C>T COAD-US 7 129520812 129520812 single base substitution C T exon_variant COAD-US 7 129520812 129520812 single base substitution C T splice_acceptor_variant COCA-CN 7 129475294 129475294 single base substitution C A downstream_gene_variant COCA-CN 7 129475294 129475294 single base substitution C A intron_variant COCA-CN 7 129482144 129482144 single base substitution G A intron_variant COCA-CN 7 129482144 129482144 single base substitution G A upstream_gene_variant COCA-CN 7 129486862 129486862 single base substitution A T intron_variant COCA-CN 7 129498663 129498663 single base substitution G A intron_variant COCA-CN 7 129503261 129503261 single base substitution C T intron_variant COCA-CN 7 129503261 129503261 single base substitution C T upstream_gene_variant COCA-CN 7 129503882 129503882 single base substitution C T intron_variant COCA-CN 7 129507572 129507572 single base substitution A C intron_variant COCA-CN 7 129507586 129507586 single base substitution G A intron_variant COCA-CN 7 129521971 129521971 single base substitution A C intron_variant COCA-CN 7 129521971 129521971 single base substitution A C upstream_gene_variant COCA-CN 7 129531654 129531654 single base substitution A C intron_variant COCA-CN 7 129565670 129565670 single base substitution G A intron_variant COCA-CN 7 129570893 129570893 single base substitution T A intron_variant COCA-CN 7 129572101 129572101 single base substitution C T intron_variant COCA-CN 7 129572106 129572106 single base substitution G A intron_variant COCA-CN 7 129581127 129581127 single base substitution T C intron_variant COCA-CN 7 129583368 129583368 single base substitution G A intron_variant COCA-CN 7 129583370 129583370 single base substitution G A intron_variant COCA-CN 7 129583958 129583958 single base substitution A C intron_variant COCA-CN 7 129588696 129588696 single base substitution C A intron_variant COCA-CN 7 129592276 129592276 single base substitution G C intron_variant COCA-CN 7 129592276 129592276 single base substitution G C upstream_gene_variant EOPC-DE 7 129491890 129491890 single base substitution G A downstream_gene_variant EOPC-DE 7 129491890 129491890 single base substitution G A intron_variant EOPC-DE 7 129504380 129504380 single base substitution T G intron_variant EOPC-DE 7 129520256 129520256 single base substitution G C intron_variant EOPC-DE 7 129576847 129576847 single base substitution C A intron_variant ESAD-UK 7 129465892 129465892 single base substitution G C downstream_gene_variant ESAD-UK 7 129468563 129468563 single base substitution A C downstream_gene_variant ESAD-UK 7 129468661 129468661 single base substitution C T downstream_gene_variant ESAD-UK 7 129469512 129469512 single base substitution G A downstream_gene_variant ESAD-UK 7 129470807 129470807 single base substitution C T 3_prime_UTR_variant ESAD-UK 7 129470807 129470807 single base substitution C T downstream_gene_variant ESAD-UK 7 129473843 129473843 insertion of <=200bp - AC 3_prime_UTR_variant ESAD-UK 7 129473843 129473843 insertion of <=200bp - AC downstream_gene_variant ESAD-UK 7 129489390 129489390 single base substitution C T intron_variant ESAD-UK 7 129489789 129489789 single base substitution T G intron_variant ESAD-UK 7 129493596 129493596 single base substitution G C downstream_gene_variant ESAD-UK 7 129493596 129493596 single base substitution G C intron_variant ESAD-UK 7 129496325 129496325 single base substitution A G downstream_gene_variant ESAD-UK 7 129496325 129496325 single base substitution A G intron_variant ESAD-UK 7 129504111 129504111 single base substitution G C intron_variant ESAD-UK 7 129505095 129505095 single base substitution A G intron_variant ESAD-UK 7 129505096 129505096 single base substitution A C intron_variant ESAD-UK 7 129505216 129505216 single base substitution G A intron_variant ESAD-UK 7 129505787 129505787 deletion of <=200bp T - intron_variant ESAD-UK 7 129505788 129505788 single base substitution G C intron_variant ESAD-UK 7 129505856 129505856 single base substitution A G intron_variant ESAD-UK 7 129510933 129510933 single base substitution A C intron_variant ESAD-UK 7 129516898 129516898 single base substitution T G intron_variant ESAD-UK 7 129522106 129522106 single base substitution G T intron_variant ESAD-UK 7 129522106 129522106 single base substitution G T upstream_gene_variant ESAD-UK 7 129522648 129522648 single base substitution A T intron_variant ESAD-UK 7 129522648 129522648 single base substitution A T upstream_gene_variant ESAD-UK 7 129525150 129525150 single base substitution A G intron_variant ESAD-UK 7 129525150 129525150 single base substitution A G upstream_gene_variant ESAD-UK 7 129530227 129530227 single base substitution A T intron_variant ESAD-UK 7 129536464 129536464 single base substitution C G intron_variant ESAD-UK 7 129537988 129537988 single base substitution T C intron_variant ESAD-UK 7 129544532 129544532 single base substitution T C intron_variant ESAD-UK 7 129544677 129544677 single base substitution G A intron_variant ESAD-UK 7 129546007 129546007 single base substitution A C intron_variant ESAD-UK 7 129546510 129546510 single base substitution A T intron_variant ESAD-UK 7 129549327 129549327 single base substitution A G intron_variant ESAD-UK 7 129550515 129550515 single base substitution A C intron_variant ESAD-UK 7 129551337 129551337 insertion of <=200bp - AAT intron_variant ESAD-UK 7 129552888 129552888 single base substitution C T intron_variant ESAD-UK 7 129553348 129553348 single base substitution G A intron_variant ESAD-UK 7 129555492 129555492 single base substitution C G intron_variant ESAD-UK 7 129558490 129558490 single base substitution A G intron_variant ESAD-UK 7 129559085 129559090 deletion of <=200bp CTATAG - intron_variant ESAD-UK 7 129561193 129561193 single base substitution A T intron_variant ESAD-UK 7 129562509 129562510 deletion of <=200bp GA - intron_variant ESAD-UK 7 129564750 129564750 single base substitution T C intron_variant ESAD-UK 7 129565138 129565138 single base substitution G T intron_variant ESAD-UK 7 129565237 129565237 insertion of <=200bp - A intron_variant ESAD-UK 7 129565685 129565685 single base substitution G C intron_variant ESAD-UK 7 129567101 129567101 single base substitution G A intron_variant ESAD-UK 7 129568141 129568141 insertion of <=200bp - A intron_variant ESAD-UK 7 129568789 129568789 single base substitution A T intron_variant ESAD-UK 7 129573197 129573197 single base substitution A T intron_variant ESAD-UK 7 129573721 129573721 single base substitution C T intron_variant ESAD-UK 7 129573760 129573760 single base substitution G A intron_variant ESAD-UK 7 129573868 129573868 single base substitution A C intron_variant ESAD-UK 7 129574470 129574470 single base substitution T A intron_variant ESAD-UK 7 129576232 129576232 single base substitution A G intron_variant ESAD-UK 7 129577565 129577565 single base substitution A C intron_variant ESAD-UK 7 129579565 129579565 single base substitution C A intron_variant ESAD-UK 7 129579957 129579957 single base substitution C G intron_variant ESAD-UK 7 129580426 129580426 single base substitution C T intron_variant ESAD-UK 7 129580530 129580530 single base substitution G A intron_variant ESAD-UK 7 129582532 129582532 single base substitution A C intron_variant ESAD-UK 7 129585760 129585760 deletion of <=200bp T - intron_variant ESAD-UK 7 129586207 129586207 single base substitution T C intron_variant ESAD-UK 7 129586542 129586542 single base substitution G C intron_variant ESAD-UK 7 129588953 129588953 single base substitution G A intron_variant ESAD-UK 7 129589628 129589628 single base substitution C T intron_variant ESAD-UK 7 129592760 129592760 single base substitution C T 5_prime_UTR_variant ESAD-UK 7 129592760 129592760 single base substitution C T upstream_gene_variant ESAD-UK 7 129595851 129595851 single base substitution T A upstream_gene_variant ESAD-UK 7 129595991 129595991 insertion of <=200bp - A upstream_gene_variant ESAD-UK 7 129596245 129596245 deletion of <=200bp T - upstream_gene_variant ESAD-UK 7 129596245 129596245 single base substitution T A upstream_gene_variant KIRC-US 7 129479130 129479130 single base substitution T A 3_prime_UTR_variant KIRC-US 7 129479130 129479130 single base substitution T A exon_variant KIRC-US 7 129479130 129479130 single base substitution T A intron_variant KIRC-US 7 129479130 129479130 single base substitution T A missense_variant Y115F 344A>T KIRC-US 7 129479130 129479130 single base substitution T A missense_variant Y82F 245A>T KIRC-US 7 129479130 129479130 single base substitution T A missense_variant Y84F 251A>T KIRC-US 7 129592346 129592346 single base substitution T A 5_prime_UTR_premature_start_codon_gain_variant KIRC-US 7 129592346 129592346 single base substitution T A exon_variant KIRC-US 7 129592346 129592346 single base substitution T A missense_variant K17M 50A>T KIRC-US 7 129592346 129592346 single base substitution T A upstream_gene_variant LAML-KR 7 129472950 129472950 single base substitution A T 3_prime_UTR_variant LAML-KR 7 129472950 129472950 single base substitution A T downstream_gene_variant LAML-KR 7 129570802 129570802 single base substitution C T intron_variant LAML-KR 7 129581039 129581039 single base substitution C T intron_variant LAML-KR 7 129581170 129581170 single base substitution T C intron_variant LAML-KR 7 129582179 129582179 single base substitution T A intron_variant LICA-FR 7 129466788 129466788 deletion of <=200bp A - downstream_gene_variant LICA-FR 7 129471358 129471361 deletion of <=200bp GGAA - 3_prime_UTR_variant LICA-FR 7 129471358 129471361 deletion of <=200bp GGAA - downstream_gene_variant LICA-FR 7 129529233 129529233 single base substitution A G intron_variant LICA-FR 7 129530930 129530930 single base substitution T A intron_variant LICA-FR 7 129533192 129533192 single base substitution T C intron_variant LICA-FR 7 129549878 129549878 single base substitution T C intron_variant LICA-FR 7 129568460 129568460 single base substitution T C intron_variant LICA-FR 7 129570774 129570774 single base substitution C A intron_variant LICA-FR 7 129595348 129595348 single base substitution C T upstream_gene_variant LIHC-US 7 129520790 129520790 single base substitution A G 5_prime_UTR_variant LIHC-US 7 129520790 129520790 single base substitution A G exon_variant LIHC-US 7 129520790 129520790 single base substitution A G synonymous_variant V25V 75T>C LIHC-US 7 129520790 129520790 single base substitution A G synonymous_variant V41V 123T>C LINC-JP 7 129470287 129470287 single base substitution T C downstream_gene_variant LINC-JP 7 129479106 129479106 single base substitution T C 3_prime_UTR_variant LINC-JP 7 129479106 129479106 single base substitution T C exon_variant LINC-JP 7 129479106 129479106 single base substitution T C missense_variant N103S 308A>G LINC-JP 7 129479106 129479106 single base substitution T C missense_variant N123S 368A>G LINC-JP 7 129479106 129479106 single base substitution T C missense_variant N90S 269A>G LINC-JP 7 129479106 129479106 single base substitution T C missense_variant N92S 275A>G LINC-JP 7 129499977 129499977 single base substitution G T intron_variant LINC-JP 7 129499977 129499977 single base substitution G T upstream_gene_variant LINC-JP 7 129503271 129503271 single base substitution T C intron_variant LINC-JP 7 129503271 129503271 single base substitution T C upstream_gene_variant LINC-JP 7 129508470 129508470 single base substitution C A intron_variant LINC-JP 7 129512178 129512178 single base substitution A G intron_variant LINC-JP 7 129519457 129519457 insertion of <=200bp - T exon_variant LINC-JP 7 129519457 129519457 insertion of <=200bp - T frameshift_variant K19K? LINC-JP 7 129519457 129519457 insertion of <=200bp - T frameshift_variant K52K? LINC-JP 7 129519457 129519457 insertion of <=200bp - T frameshift_variant K68K? LINC-JP 7 129522845 129522845 single base substitution C T intron_variant LINC-JP 7 129522845 129522845 single base substitution C T upstream_gene_variant LINC-JP 7 129538101 129538101 single base substitution A C intron_variant LINC-JP 7 129549546 129549546 single base substitution A T intron_variant LINC-JP 7 129558929 129558929 single base substitution C A intron_variant LINC-JP 7 129560588 129560588 single base substitution G C intron_variant LINC-JP 7 129561391 129561391 single base substitution T C intron_variant LINC-JP 7 129574761 129574761 single base substitution A G intron_variant LINC-JP 7 129575254 129575254 single base substitution G A intron_variant LINC-JP 7 129577647 129577647 single base substitution T C intron_variant LINC-JP 7 129585857 129585857 single base substitution T G intron_variant LINC-JP 7 129587155 129587155 single base substitution T C intron_variant LINC-JP 7 129588118 129588118 single base substitution C A intron_variant LINC-JP 7 129590869 129590869 single base substitution T A intron_variant LIRI-JP 7 129468187 129468187 single base substitution G A downstream_gene_variant LIRI-JP 7 129470720 129470720 single base substitution G T 3_prime_UTR_variant LIRI-JP 7 129470720 129470720 single base substitution G T downstream_gene_variant LIRI-JP 7 129475939 129475939 single base substitution T C downstream_gene_variant LIRI-JP 7 129475939 129475939 single base substitution T C intron_variant LIRI-JP 7 129478072 129478072 single base substitution A T downstream_gene_variant LIRI-JP 7 129478072 129478072 single base substitution A T intron_variant LIRI-JP 7 129478728 129478728 single base substitution C T downstream_gene_variant LIRI-JP 7 129478728 129478728 single base substitution C T intron_variant LIRI-JP 7 129480639 129480639 single base substitution T A intron_variant LIRI-JP 7 129480639 129480639 single base substitution T A upstream_gene_variant LIRI-JP 7 129482669 129482669 single base substitution G A intron_variant LIRI-JP 7 129482669 129482669 single base substitution G A upstream_gene_variant LIRI-JP 7 129484762 129484762 single base substitution A C intron_variant LIRI-JP 7 129485037 129485037 single base substitution T C intron_variant LIRI-JP 7 129485605 129485605 single base substitution T C intron_variant LIRI-JP 7 129485633 129485633 single base substitution G A intron_variant LIRI-JP 7 129485880 129485880 single base substitution A G intron_variant LIRI-JP 7 129491393 129491393 single base substitution A C intron_variant LIRI-JP 7 129491780 129491780 single base substitution T C intron_variant LIRI-JP 7 129493732 129493732 single base substitution G T downstream_gene_variant LIRI-JP 7 129493732 129493732 single base substitution G T intron_variant LIRI-JP 7 129506114 129506114 single base substitution T C intron_variant LIRI-JP 7 129506307 129506307 single base substitution C A intron_variant LIRI-JP 7 129506722 129506722 single base substitution T C intron_variant LIRI-JP 7 129509143 129509143 single base substitution C T intron_variant LIRI-JP 7 129509783 129509783 single base substitution T G intron_variant LIRI-JP 7 129509889 129509889 single base substitution A T intron_variant LIRI-JP 7 129509946 129509946 single base substitution C T intron_variant LIRI-JP 7 129511174 129511174 single base substitution T C intron_variant LIRI-JP 7 129511469 129511469 single base substitution A C intron_variant LIRI-JP 7 129512191 129512191 single base substitution T A intron_variant LIRI-JP 7 129512978 129512978 single base substitution C T intron_variant LIRI-JP 7 129514564 129514564 single base substitution A C intron_variant LIRI-JP 7 129515229 129515229 single base substitution C T intron_variant LIRI-JP 7 129515241 129515241 single base substitution T C intron_variant LIRI-JP 7 129517636 129517636 single base substitution G C intron_variant LIRI-JP 7 129520588 129520588 single base substitution A T intron_variant LIRI-JP 7 129521480 129521480 single base substitution T A intron_variant LIRI-JP 7 129521480 129521480 single base substitution T A upstream_gene_variant LIRI-JP 7 129522401 129522401 single base substitution T C intron_variant LIRI-JP 7 129522401 129522401 single base substitution T C upstream_gene_variant LIRI-JP 7 129522839 129522839 single base substitution A G intron_variant LIRI-JP 7 129522839 129522839 single base substitution A G upstream_gene_variant LIRI-JP 7 129523819 129523819 single base substitution C G intron_variant LIRI-JP 7 129523819 129523819 single base substitution C G upstream_gene_variant LIRI-JP 7 129526040 129526040 single base substitution T C intron_variant LIRI-JP 7 129527774 129527774 single base substitution T C intron_variant LIRI-JP 7 129528637 129528637 single base substitution G A intron_variant LIRI-JP 7 129528929 129528929 single base substitution T A intron_variant LIRI-JP 7 129529641 129529641 single base substitution T C intron_variant LIRI-JP 7 129534002 129534002 single base substitution T C intron_variant LIRI-JP 7 129535059 129535059 single base substitution T A intron_variant LIRI-JP 7 129538736 129538739 deletion of <=200bp TAGA - intron_variant LIRI-JP 7 129538883 129538883 single base substitution T C intron_variant LIRI-JP 7 129539440 129539440 single base substitution T A intron_variant LIRI-JP 7 129540751 129540751 single base substitution C A intron_variant LIRI-JP 7 129541082 129541082 single base substitution T C intron_variant LIRI-JP 7 129541362 129541362 single base substitution G A intron_variant LIRI-JP 7 129542543 129542543 single base substitution T C intron_variant LIRI-JP 7 129544104 129544104 single base substitution T C intron_variant LIRI-JP 7 129545129 129545129 single base substitution C T intron_variant LIRI-JP 7 129545686 129545686 single base substitution T C intron_variant LIRI-JP 7 129548187 129548187 single base substitution T C intron_variant LIRI-JP 7 129548856 129548856 single base substitution T C intron_variant LIRI-JP 7 129549297 129549297 single base substitution C T intron_variant LIRI-JP 7 129550685 129550685 single base substitution G A intron_variant LIRI-JP 7 129551307 129551307 single base substitution A C intron_variant LIRI-JP 7 129551862 129551862 single base substitution T C intron_variant LIRI-JP 7 129553359 129553359 single base substitution C A intron_variant LIRI-JP 7 129553687 129553687 single base substitution A G intron_variant LIRI-JP 7 129554286 129554286 single base substitution C T intron_variant LIRI-JP 7 129554959 129554959 single base substitution A C intron_variant LIRI-JP 7 129557103 129557103 single base substitution T C intron_variant LIRI-JP 7 129565141 129565141 single base substitution T C intron_variant LIRI-JP 7 129566478 129566478 single base substitution T C intron_variant LIRI-JP 7 129567043 129567043 single base substitution T C intron_variant LIRI-JP 7 129570246 129570246 single base substitution T C intron_variant LIRI-JP 7 129571134 129571134 single base substitution A T intron_variant LIRI-JP 7 129571135 129571135 single base substitution G T intron_variant LIRI-JP 7 129573127 129573127 single base substitution A C intron_variant LIRI-JP 7 129576614 129576614 single base substitution G A intron_variant LIRI-JP 7 129579234 129579234 single base substitution T C intron_variant LIRI-JP 7 129579946 129579946 single base substitution G A intron_variant LIRI-JP 7 129582442 129582442 single base substitution C A intron_variant LIRI-JP 7 129582443 129582443 single base substitution A C intron_variant LIRI-JP 7 129582637 129582637 single base substitution A G intron_variant LIRI-JP 7 129584666 129584666 single base substitution T C intron_variant LIRI-JP 7 129585013 129585013 single base substitution T C intron_variant LIRI-JP 7 129585219 129585219 single base substitution G T intron_variant LIRI-JP 7 129586677 129586677 single base substitution G A intron_variant LIRI-JP 7 129588523 129588523 single base substitution C T intron_variant LIRI-JP 7 129591209 129591209 single base substitution G T intron_variant LIRI-JP 7 129591209 129591209 single base substitution G T upstream_gene_variant LIRI-JP 7 129591867 129591867 single base substitution T C intron_variant LIRI-JP 7 129591867 129591867 single base substitution T C upstream_gene_variant LIRI-JP 7 129593110 129593110 single base substitution G A upstream_gene_variant LIRI-JP 7 129593839 129593839 single base substitution G A upstream_gene_variant LIRI-JP 7 129594215 129594215 single base substitution A G upstream_gene_variant LIRI-JP 7 129594609 129594609 single base substitution C G upstream_gene_variant LIRI-JP 7 129596662 129596662 single base substitution A T upstream_gene_variant LIRI-JP 7 129597210 129597210 single base substitution A T upstream_gene_variant LUSC-KR 7 129469350 129469350 single base substitution T C downstream_gene_variant LUSC-KR 7 129475742 129475742 single base substitution G T downstream_gene_variant LUSC-KR 7 129475742 129475742 single base substitution G T intron_variant LUSC-KR 7 129481840 129481840 single base substitution G C intron_variant LUSC-KR 7 129481840 129481840 single base substitution G C upstream_gene_variant LUSC-KR 7 129481963 129481963 single base substitution C G intron_variant LUSC-KR 7 129481963 129481963 single base substitution C G upstream_gene_variant LUSC-KR 7 129490675 129490675 single base substitution G C intron_variant LUSC-KR 7 129496818 129496818 single base substitution A T downstream_gene_variant LUSC-KR 7 129496818 129496818 single base substitution A T exon_variant LUSC-KR 7 129496818 129496818 single base substitution A T intron_variant LUSC-KR 7 129501222 129501222 single base substitution T C intron_variant LUSC-KR 7 129501222 129501222 single base substitution T C upstream_gene_variant LUSC-KR 7 129505893 129505893 single base substitution G A intron_variant LUSC-KR 7 129507892 129507892 single base substitution C G intron_variant LUSC-KR 7 129512797 129512797 single base substitution C T intron_variant LUSC-KR 7 129517829 129517829 single base substitution G T intron_variant LUSC-KR 7 129520993 129520993 single base substitution G T intron_variant LUSC-KR 7 129520993 129520993 single base substitution G T upstream_gene_variant LUSC-KR 7 129531811 129531811 single base substitution G T intron_variant LUSC-KR 7 129533896 129533896 single base substitution G A intron_variant LUSC-KR 7 129537359 129537359 single base substitution A G intron_variant LUSC-KR 7 129538667 129538667 single base substitution C T intron_variant LUSC-KR 7 129540609 129540609 single base substitution G T intron_variant LUSC-KR 7 129541717 129541717 single base substitution G A intron_variant LUSC-KR 7 129544141 129544141 single base substitution T C intron_variant LUSC-KR 7 129545595 129545595 single base substitution G A intron_variant LUSC-KR 7 129568563 129568563 single base substitution C T intron_variant LUSC-KR 7 129569243 129569243 single base substitution C G intron_variant LUSC-KR 7 129584388 129584388 single base substitution G T intron_variant LUSC-KR 7 129585911 129585911 single base substitution G T intron_variant LUSC-KR 7 129592726 129592726 single base substitution T C 5_prime_UTR_variant LUSC-KR 7 129592726 129592726 single base substitution T C upstream_gene_variant LUSC-KR 7 129593139 129593139 single base substitution C A upstream_gene_variant LUSC-KR 7 129594870 129594870 single base substitution C T upstream_gene_variant LUSC-KR 7 129596735 129596735 single base substitution G T upstream_gene_variant MALY-DE 7 129481301 129481301 single base substitution T C intron_variant MALY-DE 7 129481301 129481301 single base substitution T C upstream_gene_variant MALY-DE 7 129485002 129485002 single base substitution T G intron_variant MALY-DE 7 129486868 129486868 single base substitution A T intron_variant MALY-DE 7 129502282 129502282 insertion of <=200bp - A intron_variant MALY-DE 7 129502282 129502282 insertion of <=200bp - A upstream_gene_variant MALY-DE 7 129506521 129506521 single base substitution C T intron_variant MALY-DE 7 129518119 129518119 single base substitution G A intron_variant MALY-DE 7 129518872 129518872 single base substitution A C intron_variant MALY-DE 7 129519303 129519303 single base substitution C T intron_variant MALY-DE 7 129522250 129522250 single base substitution A G intron_variant MALY-DE 7 129522250 129522250 single base substitution A G upstream_gene_variant MALY-DE 7 129528128 129528128 deletion of <=200bp A - intron_variant MALY-DE 7 129529587 129529587 single base substitution G A intron_variant MALY-DE 7 129529603 129529603 single base substitution T A intron_variant MALY-DE 7 129529867 129529867 single base substitution G A intron_variant MALY-DE 7 129530283 129530283 single base substitution G A intron_variant MALY-DE 7 129530589 129530589 single base substitution G C intron_variant MALY-DE 7 129533610 129533610 single base substitution A C intron_variant MALY-DE 7 129544669 129544669 single base substitution A C intron_variant MALY-DE 7 129547504 129547504 single base substitution C T intron_variant MALY-DE 7 129547609 129547609 single base substitution G A intron_variant MALY-DE 7 129549907 129549907 single base substitution G A intron_variant MALY-DE 7 129552154 129552154 single base substitution G T intron_variant MALY-DE 7 129552926 129552926 single base substitution A G intron_variant MALY-DE 7 129567399 129567399 single base substitution A T intron_variant MALY-DE 7 129567401 129567401 single base substitution A C intron_variant MALY-DE 7 129572752 129572752 single base substitution T G intron_variant MALY-DE 7 129574343 129574343 single base substitution T C intron_variant MALY-DE 7 129574642 129574642 single base substitution T A intron_variant MALY-DE 7 129578649 129578649 insertion of <=200bp - T intron_variant MALY-DE 7 129587058 129587058 single base substitution G T intron_variant MALY-DE 7 129589420 129589420 single base substitution A T intron_variant MALY-DE 7 129592338 129592338 single base substitution G A intron_variant MALY-DE 7 129592338 129592338 single base substitution G A upstream_gene_variant MALY-DE 7 129596418 129596418 deletion of <=200bp A - upstream_gene_variant MELA-AU 7 129465756 129465756 single base substitution C T downstream_gene_variant MELA-AU 7 129466583 129466583 single base substitution G A downstream_gene_variant MELA-AU 7 129467329 129467329 single base substitution G A downstream_gene_variant MELA-AU 7 129467797 129467797 single base substitution G C downstream_gene_variant MELA-AU 7 129468218 129468218 single base substitution G A downstream_gene_variant MELA-AU 7 129468400 129468400 single base substitution G A downstream_gene_variant MELA-AU 7 129468411 129468411 single base substitution G A downstream_gene_variant MELA-AU 7 129469058 129469059 multiple base substitution (>=2bp and <=200bp) GG AA downstream_gene_variant MELA-AU 7 129469530 129469530 single base substitution G A downstream_gene_variant MELA-AU 7 129470375 129470375 single base substitution G A downstream_gene_variant MELA-AU 7 129470405 129470405 single base substitution G A downstream_gene_variant MELA-AU 7 129470915 129470915 single base substitution G A 3_prime_UTR_variant MELA-AU 7 129470915 129470915 single base substitution G A downstream_gene_variant MELA-AU 7 129471359 129471359 single base substitution G A 3_prime_UTR_variant MELA-AU 7 129471359 129471359 single base substitution G A downstream_gene_variant MELA-AU 7 129472252 129472252 single base substitution G A 3_prime_UTR_variant MELA-AU 7 129472252 129472252 single base substitution G A downstream_gene_variant MELA-AU 7 129472344 129472344 single base substitution T A 3_prime_UTR_variant MELA-AU 7 129472344 129472344 single base substitution T A downstream_gene_variant MELA-AU 7 129473127 129473127 single base substitution A G 3_prime_UTR_variant MELA-AU 7 129473127 129473127 single base substitution A G downstream_gene_variant MELA-AU 7 129473973 129473973 single base substitution G A 3_prime_UTR_variant MELA-AU 7 129473973 129473973 single base substitution G A downstream_gene_variant MELA-AU 7 129474215 129474215 single base substitution C T 3_prime_UTR_variant MELA-AU 7 129474215 129474215 single base substitution C T downstream_gene_variant MELA-AU 7 129474336 129474336 single base substitution G A 3_prime_UTR_variant MELA-AU 7 129474336 129474336 single base substitution G A downstream_gene_variant MELA-AU 7 129474574 129474574 single base substitution G A 3_prime_UTR_variant MELA-AU 7 129474574 129474574 single base substitution G A downstream_gene_variant MELA-AU 7 129474756 129474756 single base substitution G A 3_prime_UTR_variant MELA-AU 7 129474756 129474756 single base substitution G A downstream_gene_variant MELA-AU 7 129475067 129475067 single base substitution G A downstream_gene_variant MELA-AU 7 129475067 129475067 single base substitution G A intron_variant MELA-AU 7 129475199 129475199 single base substitution G A downstream_gene_variant MELA-AU 7 129475199 129475199 single base substitution G A intron_variant MELA-AU 7 129475408 129475408 single base substitution C T downstream_gene_variant MELA-AU 7 129475408 129475408 single base substitution C T intron_variant MELA-AU 7 129475534 129475534 single base substitution G A downstream_gene_variant MELA-AU 7 129475534 129475534 single base substitution G A intron_variant MELA-AU 7 129475564 129475564 single base substitution C T downstream_gene_variant MELA-AU 7 129475564 129475564 single base substitution C T intron_variant MELA-AU 7 129476274 129476274 single base substitution C T downstream_gene_variant MELA-AU 7 129476274 129476274 single base substitution C T intron_variant MELA-AU 7 129476295 129476295 single base substitution G A downstream_gene_variant MELA-AU 7 129476295 129476295 single base substitution G A intron_variant MELA-AU 7 129476427 129476427 single base substitution G A downstream_gene_variant MELA-AU 7 129476427 129476427 single base substitution G A intron_variant MELA-AU 7 129476574 129476574 single base substitution G A downstream_gene_variant MELA-AU 7 129476574 129476574 single base substitution G A intron_variant MELA-AU 7 129476680 129476680 single base substitution A C downstream_gene_variant MELA-AU 7 129476680 129476680 single base substitution A C intron_variant MELA-AU 7 129476923 129476923 single base substitution A G downstream_gene_variant MELA-AU 7 129476923 129476923 single base substitution A G intron_variant MELA-AU 7 129476997 129476997 single base substitution G A downstream_gene_variant MELA-AU 7 129476997 129476997 single base substitution G A intron_variant MELA-AU 7 129477346 129477346 single base substitution G A downstream_gene_variant MELA-AU 7 129477346 129477346 single base substitution G A intron_variant MELA-AU 7 129478374 129478374 single base substitution C T downstream_gene_variant MELA-AU 7 129478374 129478374 single base substitution C T intron_variant MELA-AU 7 129478957 129478957 single base substitution G A downstream_gene_variant MELA-AU 7 129478957 129478957 single base substitution G A intron_variant MELA-AU 7 129479641 129479642 multiple base substitution (>=2bp and <=200bp) CC TT intron_variant MELA-AU 7 129479641 129479642 multiple base substitution (>=2bp and <=200bp) CC TT upstream_gene_variant MELA-AU 7 129481182 129481182 single base substitution G A intron_variant MELA-AU 7 129481182 129481182 single base substitution G A upstream_gene_variant MELA-AU 7 129481350 129481350 single base substitution G A intron_variant MELA-AU 7 129481350 129481350 single base substitution G A upstream_gene_variant MELA-AU 7 129481858 129481858 single base substitution G A intron_variant MELA-AU 7 129481858 129481858 single base substitution G A upstream_gene_variant MELA-AU 7 129481929 129481929 single base substitution G A intron_variant MELA-AU 7 129481929 129481929 single base substitution G A upstream_gene_variant MELA-AU 7 129482200 129482200 single base substitution G A intron_variant MELA-AU 7 129482200 129482200 single base substitution G A upstream_gene_variant MELA-AU 7 129482402 129482402 single base substitution G A intron_variant MELA-AU 7 129482402 129482402 single base substitution G A upstream_gene_variant MELA-AU 7 129482710 129482710 single base substitution C T intron_variant MELA-AU 7 129482710 129482710 single base substitution C T upstream_gene_variant MELA-AU 7 129482795 129482795 single base substitution C T intron_variant MELA-AU 7 129482795 129482795 single base substitution C T upstream_gene_variant MELA-AU 7 129482962 129482963 multiple base substitution (>=2bp and <=200bp) CC TT intron_variant MELA-AU 7 129482962 129482963 multiple base substitution (>=2bp and <=200bp) CC TT upstream_gene_variant MELA-AU 7 129483805 129483805 single base substitution G A intron_variant MELA-AU 7 129483805 129483805 single base substitution G A upstream_gene_variant MELA-AU 7 129485245 129485245 single base substitution G A intron_variant MELA-AU 7 129485426 129485426 single base substitution G A intron_variant MELA-AU 7 129485536 129485536 single base substitution C T intron_variant MELA-AU 7 129485806 129485806 single base substitution G A intron_variant MELA-AU 7 129486801 129486801 single base substitution A G intron_variant MELA-AU 7 129486900 129486900 single base substitution C T intron_variant MELA-AU 7 129487150 129487150 single base substitution G A intron_variant MELA-AU 7 129487183 129487183 single base substitution C T intron_variant MELA-AU 7 129487460 129487460 single base substitution C T intron_variant MELA-AU 7 129488152 129488152 single base substitution G A intron_variant MELA-AU 7 129488218 129488218 single base substitution G A intron_variant MELA-AU 7 129488301 129488301 single base substitution G A intron_variant MELA-AU 7 129488682 129488682 single base substitution T G intron_variant MELA-AU 7 129488780 129488780 single base substitution G A intron_variant MELA-AU 7 129489107 129489107 single base substitution A T intron_variant MELA-AU 7 129492116 129492116 single base substitution G A downstream_gene_variant MELA-AU 7 129492116 129492116 single base substitution G A intron_variant MELA-AU 7 129492286 129492286 single base substitution G A downstream_gene_variant MELA-AU 7 129492286 129492286 single base substitution G A intron_variant MELA-AU 7 129492326 129492326 single base substitution T A downstream_gene_variant MELA-AU 7 129492326 129492326 single base substitution T A intron_variant MELA-AU 7 129492659 129492660 multiple base substitution (>=2bp and <=200bp) GG AA downstream_gene_variant MELA-AU 7 129492659 129492660 multiple base substitution (>=2bp and <=200bp) GG AA intron_variant MELA-AU 7 129492786 129492786 single base substitution G A downstream_gene_variant MELA-AU 7 129492786 129492786 single base substitution G A intron_variant MELA-AU 7 129492835 129492835 single base substitution G A downstream_gene_variant MELA-AU 7 129492835 129492835 single base substitution G A intron_variant MELA-AU 7 129494174 129494174 single base substitution C T downstream_gene_variant MELA-AU 7 129494174 129494174 single base substitution C T intron_variant MELA-AU 7 129494266 129494266 single base substitution G A downstream_gene_variant MELA-AU 7 129494266 129494266 single base substitution G A intron_variant MELA-AU 7 129494780 129494780 single base substitution G A downstream_gene_variant MELA-AU 7 129494780 129494780 single base substitution G A intron_variant MELA-AU 7 129495037 129495037 single base substitution A T downstream_gene_variant MELA-AU 7 129495037 129495037 single base substitution A T intron_variant MELA-AU 7 129495500 129495500 single base substitution A C downstream_gene_variant MELA-AU 7 129495500 129495500 single base substitution A C intron_variant MELA-AU 7 129495770 129495770 single base substitution T C downstream_gene_variant MELA-AU 7 129495770 129495770 single base substitution T C intron_variant MELA-AU 7 129495807 129495807 single base substitution G A downstream_gene_variant MELA-AU 7 129495807 129495807 single base substitution G A intron_variant MELA-AU 7 129496306 129496306 single base substitution C T downstream_gene_variant MELA-AU 7 129496306 129496306 single base substitution C T intron_variant MELA-AU 7 129496652 129496652 single base substitution G A downstream_gene_variant MELA-AU 7 129496652 129496652 single base substitution G A intron_variant MELA-AU 7 129496833 129496833 single base substitution G A downstream_gene_variant MELA-AU 7 129496833 129496833 single base substitution G A exon_variant MELA-AU 7 129496833 129496833 single base substitution G A intron_variant MELA-AU 7 129496887 129496887 single base substitution G T downstream_gene_variant MELA-AU 7 129496887 129496887 single base substitution G T exon_variant MELA-AU 7 129496887 129496887 single base substitution G T intron_variant MELA-AU 7 129496986 129496986 single base substitution G A downstream_gene_variant MELA-AU 7 129496986 129496986 single base substitution G A exon_variant MELA-AU 7 129496986 129496986 single base substitution G A intron_variant MELA-AU 7 129497597 129497597 single base substitution G A intron_variant MELA-AU 7 129497660 129497660 single base substitution G A intron_variant MELA-AU 7 129497704 129497704 single base substitution G A intron_variant MELA-AU 7 129498090 129498090 single base substitution A G intron_variant MELA-AU 7 129498277 129498277 single base substitution G A intron_variant MELA-AU 7 129498378 129498378 single base substitution T G intron_variant MELA-AU 7 129498584 129498584 single base substitution A G intron_variant MELA-AU 7 129498598 129498598 single base substitution G A intron_variant MELA-AU 7 129499319 129499319 single base substitution C T intron_variant MELA-AU 7 129499319 129499319 single base substitution C T upstream_gene_variant MELA-AU 7 129499354 129499354 single base substitution G A intron_variant MELA-AU 7 129499354 129499354 single base substitution G A upstream_gene_variant MELA-AU 7 129500025 129500025 single base substitution G A intron_variant MELA-AU 7 129500025 129500025 single base substitution G A upstream_gene_variant MELA-AU 7 129500089 129500089 single base substitution T C intron_variant MELA-AU 7 129500089 129500089 single base substitution T C upstream_gene_variant MELA-AU 7 129500422 129500422 single base substitution G A intron_variant MELA-AU 7 129500422 129500422 single base substitution G A upstream_gene_variant MELA-AU 7 129501496 129501496 single base substitution C T intron_variant MELA-AU 7 129501496 129501496 single base substitution C T upstream_gene_variant MELA-AU 7 129502041 129502041 single base substitution G T intron_variant MELA-AU 7 129502041 129502041 single base substitution G T upstream_gene_variant MELA-AU 7 129502290 129502290 single base substitution A G intron_variant MELA-AU 7 129502290 129502290 single base substitution A G upstream_gene_variant MELA-AU 7 129502600 129502600 single base substitution G A intron_variant MELA-AU 7 129502600 129502600 single base substitution G A upstream_gene_variant MELA-AU 7 129502737 129502737 single base substitution T A intron_variant MELA-AU 7 129502737 129502737 single base substitution T A upstream_gene_variant MELA-AU 7 129502835 129502835 single base substitution G A intron_variant MELA-AU 7 129502835 129502835 single base substitution G A upstream_gene_variant MELA-AU 7 129503198 129503198 single base substitution C A intron_variant MELA-AU 7 129503198 129503198 single base substitution C A upstream_gene_variant MELA-AU 7 129504094 129504094 single base substitution G T intron_variant MELA-AU 7 129504129 129504129 single base substitution G A intron_variant MELA-AU 7 129504486 129504486 single base substitution G A intron_variant MELA-AU 7 129505447 129505447 single base substitution G A intron_variant MELA-AU 7 129505936 129505936 single base substitution C T intron_variant MELA-AU 7 129506120 129506120 single base substitution G A intron_variant MELA-AU 7 129506514 129506514 single base substitution C T intron_variant MELA-AU 7 129506971 129506971 single base substitution G A intron_variant MELA-AU 7 129507968 129507968 single base substitution G A intron_variant MELA-AU 7 129509647 129509647 single base substitution G A intron_variant MELA-AU 7 129509806 129509806 single base substitution A T intron_variant MELA-AU 7 129509816 129509817 deletion of <=200bp TT - intron_variant MELA-AU 7 129511061 129511061 single base substitution G A intron_variant MELA-AU 7 129511299 129511299 single base substitution A T intron_variant MELA-AU 7 129511479 129511479 insertion of <=200bp - G intron_variant MELA-AU 7 129511539 129511543 deletion of <=200bp ACAAG - intron_variant MELA-AU 7 129511557 129511557 single base substitution A T intron_variant MELA-AU 7 129511667 129511667 single base substitution G A intron_variant MELA-AU 7 129512812 129512812 single base substitution C T intron_variant MELA-AU 7 129512993 129512994 multiple base substitution (>=2bp and <=200bp) GG AA intron_variant MELA-AU 7 129513300 129513300 single base substitution G A intron_variant MELA-AU 7 129513529 129513529 single base substitution C T intron_variant MELA-AU 7 129513795 129513795 single base substitution G A intron_variant MELA-AU 7 129514213 129514213 single base substitution G A intron_variant MELA-AU 7 129514664 129514664 single base substitution G A intron_variant MELA-AU 7 129514806 129514806 single base substitution G A intron_variant MELA-AU 7 129515101 129515101 single base substitution G A intron_variant MELA-AU 7 129515739 129515739 single base substitution G A intron_variant MELA-AU 7 129515880 129515880 single base substitution C T intron_variant MELA-AU 7 129515966 129515966 single base substitution G A intron_variant MELA-AU 7 129516228 129516228 single base substitution G A intron_variant MELA-AU 7 129516674 129516674 single base substitution G A intron_variant MELA-AU 7 129517603 129517603 single base substitution G A intron_variant MELA-AU 7 129517673 129517673 single base substitution G A intron_variant MELA-AU 7 129517844 129517844 single base substitution G A intron_variant MELA-AU 7 129518147 129518147 single base substitution G A intron_variant MELA-AU 7 129518346 129518346 single base substitution A G intron_variant MELA-AU 7 129518532 129518532 single base substitution A T intron_variant MELA-AU 7 129518601 129518601 single base substitution T G intron_variant MELA-AU 7 129518718 129518718 single base substitution T C intron_variant MELA-AU 7 129518962 129518962 single base substitution C A intron_variant MELA-AU 7 129519067 129519067 single base substitution C T intron_variant MELA-AU 7 129519295 129519295 single base substitution G A intron_variant MELA-AU 7 129519335 129519335 single base substitution T A intron_variant MELA-AU 7 129519360 129519369 deletion of <=200bp CCTTAGATTT - intron_variant MELA-AU 7 129519609 129519609 single base substitution G A intron_variant MELA-AU 7 129520323 129520323 single base substitution G A intron_variant MELA-AU 7 129520562 129520562 single base substitution G A intron_variant MELA-AU 7 129520563 129520563 single base substitution G A intron_variant MELA-AU 7 129521278 129521278 single base substitution G A intron_variant MELA-AU 7 129521278 129521278 single base substitution G A upstream_gene_variant MELA-AU 7 129521881 129521881 single base substitution G A intron_variant MELA-AU 7 129521881 129521881 single base substitution G A upstream_gene_variant MELA-AU 7 129522104 129522104 single base substitution G A intron_variant MELA-AU 7 129522104 129522104 single base substitution G A upstream_gene_variant MELA-AU 7 129522740 129522741 multiple base substitution (>=2bp and <=200bp) GG AA intron_variant MELA-AU 7 129522740 129522741 multiple base substitution (>=2bp and <=200bp) GG AA upstream_gene_variant MELA-AU 7 129522977 129522977 single base substitution G A intron_variant MELA-AU 7 129522977 129522977 single base substitution G A upstream_gene_variant MELA-AU 7 129523474 129523474 single base substitution G A intron_variant MELA-AU 7 129523474 129523474 single base substitution G A upstream_gene_variant MELA-AU 7 129523501 129523501 single base substitution G A intron_variant MELA-AU 7 129523501 129523501 single base substitution G A upstream_gene_variant MELA-AU 7 129523513 129523513 single base substitution C T intron_variant MELA-AU 7 129523513 129523513 single base substitution C T upstream_gene_variant MELA-AU 7 129523752 129523752 single base substitution A G intron_variant MELA-AU 7 129523752 129523752 single base substitution A G upstream_gene_variant MELA-AU 7 129524151 129524151 single base substitution G A intron_variant MELA-AU 7 129524151 129524151 single base substitution G A upstream_gene_variant MELA-AU 7 129524362 129524362 single base substitution G A intron_variant MELA-AU 7 129524362 129524362 single base substitution G A upstream_gene_variant MELA-AU 7 129524969 129524969 single base substitution C A intron_variant MELA-AU 7 129524969 129524969 single base substitution C A upstream_gene_variant MELA-AU 7 129525278 129525278 single base substitution G A intron_variant MELA-AU 7 129525278 129525278 single base substitution G A upstream_gene_variant MELA-AU 7 129525623 129525623 single base substitution A T intron_variant MELA-AU 7 129525623 129525623 single base substitution A T upstream_gene_variant MELA-AU 7 129525949 129525949 single base substitution C T intron_variant MELA-AU 7 129526526 129526526 single base substitution T C intron_variant MELA-AU 7 129526732 129526732 single base substitution G A intron_variant MELA-AU 7 129528767 129528767 single base substitution G A intron_variant MELA-AU 7 129528844 129528844 single base substitution G A intron_variant MELA-AU 7 129529615 129529617 multiple base substitution (>=2bp and <=200bp) GGA AAT intron_variant MELA-AU 7 129529616 129529616 single base substitution G A intron_variant MELA-AU 7 129530323 129530323 single base substitution G A intron_variant MELA-AU 7 129530434 129530434 single base substitution G A intron_variant MELA-AU 7 129530516 129530516 single base substitution G A intron_variant MELA-AU 7 129531160 129531160 single base substitution G A intron_variant MELA-AU 7 129531271 129531271 single base substitution G A intron_variant MELA-AU 7 129531339 129531339 deletion of <=200bp T - intron_variant MELA-AU 7 129531567 129531567 single base substitution G A intron_variant MELA-AU 7 129531590 129531590 single base substitution G A intron_variant MELA-AU 7 129531592 129531592 single base substitution G A intron_variant MELA-AU 7 129531656 129531656 single base substitution A C intron_variant MELA-AU 7 129531746 129531746 deletion of <=200bp T - intron_variant MELA-AU 7 129531992 129531993 multiple base substitution (>=2bp and <=200bp) CC TT intron_variant MELA-AU 7 129532016 129532016 single base substitution C T intron_variant MELA-AU 7 129532498 129532498 single base substitution T A intron_variant MELA-AU 7 129532510 129532510 single base substitution A G intron_variant MELA-AU 7 129532516 129532516 single base substitution C T intron_variant MELA-AU 7 129533398 129533398 single base substitution G A intron_variant MELA-AU 7 129533659 129533659 single base substitution A G intron_variant MELA-AU 7 129533785 129533785 single base substitution G C intron_variant MELA-AU 7 129534386 129534386 single base substitution G A intron_variant MELA-AU 7 129534584 129534584 single base substitution C T intron_variant MELA-AU 7 129535093 129535093 single base substitution G A intron_variant MELA-AU 7 129535949 129535949 single base substitution G A intron_variant MELA-AU 7 129536160 129536160 single base substitution G C intron_variant MELA-AU 7 129536724 129536724 single base substitution T A intron_variant MELA-AU 7 129536929 129536929 single base substitution G A intron_variant MELA-AU 7 129537730 129537730 single base substitution G A intron_variant MELA-AU 7 129538152 129538152 single base substitution C A intron_variant MELA-AU 7 129538408 129538408 single base substitution G A intron_variant MELA-AU 7 129538450 129538450 single base substitution G A intron_variant MELA-AU 7 129538485 129538485 single base substitution G C intron_variant MELA-AU 7 129539358 129539358 single base substitution G A intron_variant MELA-AU 7 129539444 129539444 single base substitution G A intron_variant MELA-AU 7 129539863 129539863 single base substitution G C intron_variant MELA-AU 7 129540536 129540536 single base substitution T C intron_variant MELA-AU 7 129540552 129540552 single base substitution C T intron_variant MELA-AU 7 129540573 129540573 single base substitution G A intron_variant MELA-AU 7 129540725 129540725 single base substitution G A intron_variant MELA-AU 7 129540858 129540858 single base substitution G A intron_variant MELA-AU 7 129541197 129541197 single base substitution G A intron_variant MELA-AU 7 129541364 129541364 single base substitution G A intron_variant MELA-AU 7 129541457 129541457 single base substitution T C intron_variant MELA-AU 7 129542276 129542276 single base substitution G A intron_variant MELA-AU 7 129542665 129542665 single base substitution G T intron_variant MELA-AU 7 129543531 129543531 single base substitution G A intron_variant MELA-AU 7 129544426 129544426 single base substitution G A intron_variant MELA-AU 7 129544469 129544469 single base substitution T C intron_variant MELA-AU 7 129544568 129544568 single base substitution C T intron_variant MELA-AU 7 129545084 129545084 single base substitution G A intron_variant MELA-AU 7 129545463 129545463 single base substitution G A intron_variant MELA-AU 7 129545520 129545520 single base substitution G A intron_variant MELA-AU 7 129546315 129546315 single base substitution G A intron_variant MELA-AU 7 129546383 129546383 single base substitution G A intron_variant MELA-AU 7 129546698 129546698 single base substitution C T intron_variant MELA-AU 7 129547671 129547671 single base substitution G A intron_variant MELA-AU 7 129547896 129547896 single base substitution C A intron_variant MELA-AU 7 129550357 129550357 single base substitution G A intron_variant MELA-AU 7 129550705 129550705 single base substitution G A intron_variant MELA-AU 7 129550901 129550901 single base substitution G A intron_variant MELA-AU 7 129551452 129551454 multiple base substitution (>=2bp and <=200bp) CTC TGT intron_variant MELA-AU 7 129552553 129552553 single base substitution C T intron_variant MELA-AU 7 129552898 129552898 single base substitution C T intron_variant MELA-AU 7 129553132 129553132 single base substitution C T intron_variant MELA-AU 7 129553844 129553844 single base substitution A T intron_variant MELA-AU 7 129554076 129554076 single base substitution T C intron_variant MELA-AU 7 129554683 129554683 single base substitution G A intron_variant MELA-AU 7 129554866 129554866 single base substitution G A intron_variant MELA-AU 7 129555306 129555306 single base substitution G A intron_variant MELA-AU 7 129556430 129556430 single base substitution G C intron_variant MELA-AU 7 129557623 129557623 single base substitution A C intron_variant MELA-AU 7 129557922 129557922 single base substitution G A intron_variant MELA-AU 7 129558258 129558259 multiple base substitution (>=2bp and <=200bp) AC TT intron_variant MELA-AU 7 129558695 129558695 single base substitution G A intron_variant MELA-AU 7 129559304 129559304 single base substitution C T intron_variant MELA-AU 7 129559451 129559451 single base substitution A C intron_variant MELA-AU 7 129560236 129560236 single base substitution G A intron_variant MELA-AU 7 129560407 129560407 single base substitution A G intron_variant MELA-AU 7 129561080 129561080 single base substitution C T intron_variant MELA-AU 7 129562492 129562492 single base substitution G A intron_variant MELA-AU 7 129562705 129562705 single base substitution G A intron_variant MELA-AU 7 129564046 129564046 single base substitution T C intron_variant MELA-AU 7 129564361 129564361 single base substitution T A intron_variant MELA-AU 7 129564707 129564707 single base substitution C T intron_variant MELA-AU 7 129566060 129566060 single base substitution C T intron_variant MELA-AU 7 129567174 129567174 single base substitution A G intron_variant MELA-AU 7 129567373 129567373 single base substitution C T intron_variant MELA-AU 7 129568271 129568271 single base substitution C T intron_variant MELA-AU 7 129568704 129568704 single base substitution G A intron_variant MELA-AU 7 129569395 129569395 single base substitution G A intron_variant MELA-AU 7 129569671 129569671 single base substitution G A intron_variant MELA-AU 7 129570511 129570511 single base substitution G A intron_variant MELA-AU 7 129570731 129570731 single base substitution G A intron_variant MELA-AU 7 129570845 129570845 single base substitution G A intron_variant MELA-AU 7 129571204 129571204 single base substitution G A intron_variant MELA-AU 7 129571881 129571881 single base substitution C G intron_variant MELA-AU 7 129573369 129573369 single base substitution G A intron_variant MELA-AU 7 129573731 129573731 single base substitution G A intron_variant MELA-AU 7 129573829 129573829 single base substitution G A intron_variant MELA-AU 7 129574797 129574797 single base substitution G A intron_variant MELA-AU 7 129575078 129575078 single base substitution A G intron_variant MELA-AU 7 129575784 129575784 single base substitution A T intron_variant MELA-AU 7 129576607 129576607 single base substitution G A intron_variant MELA-AU 7 129576660 129576660 single base substitution A C intron_variant MELA-AU 7 129576788 129576788 single base substitution A C intron_variant MELA-AU 7 129577158 129577158 single base substitution G A intron_variant MELA-AU 7 129578158 129578158 single base substitution G A intron_variant MELA-AU 7 129578955 129578955 single base substitution G A intron_variant MELA-AU 7 129580358 129580358 single base substitution G A intron_variant MELA-AU 7 129580532 129580532 single base substitution G A intron_variant MELA-AU 7 129581019 129581019 single base substitution G A intron_variant MELA-AU 7 129581067 129581067 single base substitution G A intron_variant MELA-AU 7 129581443 129581443 single base substitution G A intron_variant MELA-AU 7 129581887 129581887 single base substitution G A intron_variant MELA-AU 7 129582029 129582029 single base substitution G A intron_variant MELA-AU 7 129582629 129582629 single base substitution C G intron_variant MELA-AU 7 129582763 129582763 single base substitution A G intron_variant MELA-AU 7 129583143 129583143 single base substitution G A intron_variant MELA-AU 7 129584176 129584176 single base substitution C A intron_variant MELA-AU 7 129584533 129584533 single base substitution A G intron_variant MELA-AU 7 129584592 129584592 single base substitution G A intron_variant MELA-AU 7 129584970 129584970 single base substitution C T intron_variant MELA-AU 7 129585684 129585684 single base substitution G A intron_variant MELA-AU 7 129585891 129585893 deletion of <=200bp ATT - intron_variant MELA-AU 7 129586050 129586050 single base substitution G A intron_variant MELA-AU 7 129586254 129586254 single base substitution G A intron_variant MELA-AU 7 129586442 129586442 single base substitution G A intron_variant MELA-AU 7 129586591 129586591 single base substitution G A intron_variant MELA-AU 7 129586654 129586654 single base substitution G A intron_variant MELA-AU 7 129586754 129586754 single base substitution G A intron_variant MELA-AU 7 129587346 129587346 single base substitution G A intron_variant MELA-AU 7 129588118 129588118 single base substitution C T intron_variant MELA-AU 7 129588187 129588187 single base substitution G A intron_variant MELA-AU 7 129588453 129588453 single base substitution G A intron_variant MELA-AU 7 129589415 129589415 single base substitution A G intron_variant MELA-AU 7 129590364 129590364 single base substitution G A intron_variant MELA-AU 7 129592084 129592084 single base substitution G A intron_variant MELA-AU 7 129592084 129592084 single base substitution G A upstream_gene_variant MELA-AU 7 129592782 129592782 single base substitution C T 5_prime_UTR_variant MELA-AU 7 129592782 129592782 single base substitution C T upstream_gene_variant MELA-AU 7 129592802 129592802 single base substitution G A upstream_gene_variant MELA-AU 7 129592833 129592833 single base substitution G A upstream_gene_variant MELA-AU 7 129592835 129592835 single base substitution A T upstream_gene_variant MELA-AU 7 129592854 129592854 single base substitution G A upstream_gene_variant MELA-AU 7 129592859 129592859 single base substitution G A upstream_gene_variant MELA-AU 7 129592860 129592860 single base substitution G A upstream_gene_variant MELA-AU 7 129592866 129592866 single base substitution G A upstream_gene_variant MELA-AU 7 129592888 129592888 single base substitution C T upstream_gene_variant MELA-AU 7 129592889 129592889 single base substitution C T upstream_gene_variant MELA-AU 7 129592917 129592917 single base substitution C T upstream_gene_variant MELA-AU 7 129593027 129593027 single base substitution G A upstream_gene_variant MELA-AU 7 129593486 129593486 single base substitution G A upstream_gene_variant MELA-AU 7 129593518 129593518 single base substitution C T upstream_gene_variant MELA-AU 7 129593539 129593539 single base substitution C T upstream_gene_variant MELA-AU 7 129593716 129593716 single base substitution G A upstream_gene_variant MELA-AU 7 129594037 129594037 single base substitution G T upstream_gene_variant MELA-AU 7 129594252 129594252 single base substitution C T upstream_gene_variant MELA-AU 7 129594468 129594468 single base substitution G A upstream_gene_variant MELA-AU 7 129594997 129594997 single base substitution G A upstream_gene_variant MELA-AU 7 129595044 129595044 single base substitution T G upstream_gene_variant MELA-AU 7 129595258 129595258 single base substitution C T upstream_gene_variant MELA-AU 7 129595403 129595403 single base substitution C T upstream_gene_variant MELA-AU 7 129596374 129596374 single base substitution C T upstream_gene_variant MELA-AU 7 129596405 129596405 single base substitution C T upstream_gene_variant MELA-AU 7 129596535 129596535 single base substitution C A upstream_gene_variant MELA-AU 7 129596630 129596630 single base substitution C T upstream_gene_variant MELA-AU 7 129596929 129596929 single base substitution G A upstream_gene_variant MELA-AU 7 129597338 129597338 single base substitution G A upstream_gene_variant MELA-AU 7 129597418 129597418 single base substitution A T upstream_gene_variant MELA-AU 7 129597557 129597558 multiple base substitution (>=2bp and <=200bp) GG AA upstream_gene_variant MELA-AU 7 129597761 129597761 single base substitution G C upstream_gene_variant ORCA-IN 7 129546758 129546758 single base substitution G A intron_variant ORCA-IN 7 129590608 129590608 single base substitution G A intron_variant OV-AU 7 129465946 129465946 single base substitution C T downstream_gene_variant OV-AU 7 129467119 129467119 single base substitution C T downstream_gene_variant OV-AU 7 129471044 129471044 single base substitution G C 3_prime_UTR_variant OV-AU 7 129471044 129471044 single base substitution G C downstream_gene_variant OV-AU 7 129476025 129476025 single base substitution C T downstream_gene_variant OV-AU 7 129476025 129476025 single base substitution C T intron_variant OV-AU 7 129478707 129478707 single base substitution G A downstream_gene_variant OV-AU 7 129478707 129478707 single base substitution G A intron_variant OV-AU 7 129486338 129486338 single base substitution C T intron_variant OV-AU 7 129495089 129495089 single base substitution C A downstream_gene_variant OV-AU 7 129495089 129495089 single base substitution C A intron_variant OV-AU 7 129506301 129506301 single base substitution C A intron_variant OV-AU 7 129513035 129513035 single base substitution T A intron_variant OV-AU 7 129513116 129513116 single base substitution C T intron_variant OV-AU 7 129514399 129514399 single base substitution T A intron_variant OV-AU 7 129516450 129516450 single base substitution T A intron_variant OV-AU 7 129531309 129531309 single base substitution G C intron_variant OV-AU 7 129535012 129535012 single base substitution C G intron_variant OV-AU 7 129537531 129537531 single base substitution C G intron_variant OV-AU 7 129538122 129538122 single base substitution T A intron_variant OV-AU 7 129538123 129538123 single base substitution G A intron_variant OV-AU 7 129538499 129538499 single base substitution G C intron_variant OV-AU 7 129540776 129540776 single base substitution G C intron_variant OV-AU 7 129547675 129547675 single base substitution A C intron_variant OV-AU 7 129547983 129547983 single base substitution C G intron_variant OV-AU 7 129553788 129553788 single base substitution G C intron_variant OV-AU 7 129561472 129561472 single base substitution G C intron_variant OV-AU 7 129561777 129561777 single base substitution C T intron_variant OV-AU 7 129562558 129562558 single base substitution C G intron_variant OV-AU 7 129568115 129568115 single base substitution T C intron_variant OV-AU 7 129574729 129574729 single base substitution T A intron_variant OV-AU 7 129582412 129582412 single base substitution G A intron_variant OV-AU 7 129585630 129585630 single base substitution G C intron_variant OV-AU 7 129592803 129592803 single base substitution G A upstream_gene_variant PACA-AU 7 129467451 129467451 single base substitution G A downstream_gene_variant PACA-AU 7 129485241 129485241 single base substitution G C intron_variant PACA-AU 7 129485843 129485843 insertion of <=200bp - A intron_variant PACA-AU 7 129493184 129493184 single base substitution G A downstream_gene_variant PACA-AU 7 129493184 129493184 single base substitution G A intron_variant PACA-AU 7 129501962 129501962 single base substitution T A intron_variant PACA-AU 7 129501962 129501962 single base substitution T A upstream_gene_variant PACA-AU 7 129502575 129502575 single base substitution A C intron_variant PACA-AU 7 129502575 129502575 single base substitution A C upstream_gene_variant PACA-AU 7 129502651 129502651 deletion of <=200bp G - intron_variant PACA-AU 7 129502651 129502651 deletion of <=200bp G - upstream_gene_variant PACA-AU 7 129504919 129504919 single base substitution C G intron_variant PACA-AU 7 129505527 129505527 single base substitution A G intron_variant PACA-AU 7 129519636 129519636 single base substitution C T intron_variant PACA-AU 7 129520533 129520533 single base substitution C A intron_variant PACA-AU 7 129528676 129528676 single base substitution G A intron_variant PACA-AU 7 129530388 129530388 single base substitution T C intron_variant PACA-AU 7 129533794 129533794 single base substitution T G intron_variant PACA-AU 7 129535672 129535672 single base substitution C T intron_variant PACA-AU 7 129538362 129538362 insertion of <=200bp - A intron_variant PACA-AU 7 129544477 129544477 single base substitution T C intron_variant PACA-AU 7 129548174 129548174 single base substitution C A intron_variant PACA-AU 7 129553595 129553595 single base substitution G C intron_variant PACA-AU 7 129554803 129554803 single base substitution G A intron_variant PACA-AU 7 129565146 129565146 single base substitution C A intron_variant PACA-AU 7 129568493 129568493 single base substitution G A intron_variant PACA-AU 7 129569397 129569397 deletion of <=200bp A - intron_variant PACA-AU 7 129574839 129574839 single base substitution G A intron_variant PACA-AU 7 129576847 129576847 single base substitution C A intron_variant PACA-AU 7 129581693 129581693 single base substitution G A intron_variant PACA-AU 7 129582611 129582611 single base substitution G T intron_variant PACA-AU 7 129585891 129585893 deletion of <=200bp ATT - intron_variant PACA-AU 7 129589933 129589933 single base substitution C T intron_variant PACA-AU 7 129592365 129592365 single base substitution T C 5_prime_UTR_variant PACA-AU 7 129592365 129592365 single base substitution T C exon_variant PACA-AU 7 129592365 129592365 single base substitution T C missense_variant M11V 31A>G PACA-AU 7 129592365 129592365 single base substitution T C upstream_gene_variant PACA-AU 7 129593204 129593204 single base substitution G T upstream_gene_variant PACA-AU 7 129595817 129595817 single base substitution G T upstream_gene_variant PACA-AU 7 129596245 129596245 single base substitution T A upstream_gene_variant PACA-AU 7 129597597 129597597 single base substitution C T upstream_gene_variant PACA-CA 7 129470049 129470049 single base substitution C T downstream_gene_variant PACA-CA 7 129470055 129470055 single base substitution A G downstream_gene_variant PACA-CA 7 129473842 129473842 insertion of <=200bp - AC 3_prime_UTR_variant PACA-CA 7 129473842 129473842 insertion of <=200bp - AC downstream_gene_variant PACA-CA 7 129474623 129474623 deletion of <=200bp A - 3_prime_UTR_variant PACA-CA 7 129474623 129474623 deletion of <=200bp A - downstream_gene_variant PACA-CA 7 129475727 129475727 single base substitution G A downstream_gene_variant PACA-CA 7 129475727 129475727 single base substitution G A intron_variant PACA-CA 7 129475872 129475872 single base substitution C G downstream_gene_variant PACA-CA 7 129475872 129475872 single base substitution C G intron_variant PACA-CA 7 129476867 129476867 single base substitution A C downstream_gene_variant PACA-CA 7 129476867 129476867 single base substitution A C intron_variant PACA-CA 7 129477133 129477133 single base substitution A G downstream_gene_variant PACA-CA 7 129477133 129477133 single base substitution A G intron_variant PACA-CA 7 129479795 129479795 single base substitution C A intron_variant PACA-CA 7 129479795 129479795 single base substitution C A upstream_gene_variant PACA-CA 7 129482108 129482108 insertion of <=200bp - A intron_variant PACA-CA 7 129482108 129482108 insertion of <=200bp - A upstream_gene_variant PACA-CA 7 129483493 129483493 single base substitution C A intron_variant PACA-CA 7 129483493 129483493 single base substitution C A upstream_gene_variant PACA-CA 7 129483787 129483787 single base substitution A G intron_variant PACA-CA 7 129483787 129483787 single base substitution A G upstream_gene_variant PACA-CA 7 129486868 129486868 single base substitution A T intron_variant PACA-CA 7 129488655 129488655 single base substitution A C intron_variant PACA-CA 7 129489139 129489139 single base substitution C T intron_variant PACA-CA 7 129491479 129491479 single base substitution T C intron_variant PACA-CA 7 129501415 129501415 single base substitution A T intron_variant PACA-CA 7 129501415 129501415 single base substitution A T upstream_gene_variant PACA-CA 7 129504509 129504509 single base substitution A G intron_variant PACA-CA 7 129505789 129505789 single base substitution G T intron_variant PACA-CA 7 129507765 129507765 single base substitution C T intron_variant PACA-CA 7 129510108 129510108 single base substitution C A intron_variant PACA-CA 7 129513701 129513701 single base substitution A G intron_variant PACA-CA 7 129514540 129514540 single base substitution G C intron_variant PACA-CA 7 129515739 129515739 deletion of <=200bp G - intron_variant PACA-CA 7 129518046 129518046 single base substitution C T intron_variant PACA-CA 7 129520045 129520045 insertion of <=200bp - A intron_variant PACA-CA 7 129521853 129521853 single base substitution A G intron_variant PACA-CA 7 129521853 129521853 single base substitution A G upstream_gene_variant PACA-CA 7 129522672 129522672 deletion of <=200bp A - intron_variant PACA-CA 7 129522672 129522672 deletion of <=200bp A - upstream_gene_variant PACA-CA 7 129527753 129527753 deletion of <=200bp A - intron_variant PACA-CA 7 129533962 129533962 single base substitution T C intron_variant PACA-CA 7 129535717 129535717 insertion of <=200bp - A intron_variant PACA-CA 7 129536714 129536714 single base substitution G C intron_variant PACA-CA 7 129539224 129539224 single base substitution T C intron_variant PACA-CA 7 129539863 129539863 single base substitution G A intron_variant PACA-CA 7 129540320 129540320 single base substitution G A intron_variant PACA-CA 7 129545399 129545399 single base substitution T C intron_variant PACA-CA 7 129548952 129548952 single base substitution C G intron_variant PACA-CA 7 129549865 129549865 single base substitution G C intron_variant PACA-CA 7 129562387 129562387 single base substitution G T intron_variant PACA-CA 7 129565044 129565044 single base substitution T C intron_variant PACA-CA 7 129566078 129566078 single base substitution A G intron_variant PACA-CA 7 129566362 129566362 single base substitution G A intron_variant PACA-CA 7 129567030 129567030 single base substitution A G intron_variant PACA-CA 7 129569863 129569863 deletion of <=200bp A - intron_variant PACA-CA 7 129570145 129570145 single base substitution G T intron_variant PACA-CA 7 129570609 129570609 single base substitution A G intron_variant PACA-CA 7 129578649 129578649 single base substitution T G intron_variant PACA-CA 7 129582693 129582693 single base substitution G T intron_variant PACA-CA 7 129584514 129584514 single base substitution T C intron_variant PACA-CA 7 129585525 129585525 deletion of <=200bp A - intron_variant PACA-CA 7 129585927 129585927 single base substitution C T intron_variant PACA-CA 7 129593228 129593228 single base substitution C A upstream_gene_variant PACA-CA 7 129593275 129593275 single base substitution A G upstream_gene_variant PACA-CA 7 129593276 129593276 single base substitution C T upstream_gene_variant PACA-CA 7 129594715 129594715 single base substitution C T upstream_gene_variant PACA-CA 7 129596264 129596264 single base substitution C A upstream_gene_variant PAEN-AU 7 129469994 129469994 single base substitution A G downstream_gene_variant PAEN-AU 7 129486562 129486562 single base substitution G A intron_variant PAEN-AU 7 129509451 129509451 single base substitution A T intron_variant PAEN-AU 7 129584768 129584768 single base substitution C T intron_variant PAEN-IT 7 129485561 129485561 single base substitution A G intron_variant PAEN-IT 7 129502719 129502719 single base substitution G A intron_variant PAEN-IT 7 129502719 129502719 single base substitution G A upstream_gene_variant PAEN-IT 7 129526656 129526656 single base substitution T C intron_variant PAEN-IT 7 129562040 129562040 single base substitution C A intron_variant PAEN-IT 7 129562858 129562858 single base substitution C T intron_variant PAEN-IT 7 129572539 129572539 single base substitution G A intron_variant PBCA-DE 7 129480194 129480194 insertion of <=200bp - T intron_variant PBCA-DE 7 129480194 129480194 insertion of <=200bp - T upstream_gene_variant PBCA-DE 7 129483946 129483946 single base substitution A T intron_variant PBCA-DE 7 129483946 129483946 single base substitution A T upstream_gene_variant PBCA-DE 7 129485425 129485425 single base substitution G T intron_variant PBCA-DE 7 129503118 129503118 single base substitution G T intron_variant PBCA-DE 7 129503118 129503118 single base substitution G T upstream_gene_variant PBCA-DE 7 129518601 129518601 single base substitution T G intron_variant PBCA-DE 7 129527314 129527314 single base substitution C T intron_variant PBCA-DE 7 129530112 129530115 deletion of <=200bp CACG - intron_variant PBCA-DE 7 129530130 129530133 deletion of <=200bp TGTA - intron_variant PBCA-DE 7 129537859 129537859 insertion of <=200bp - A intron_variant PBCA-DE 7 129538155 129538155 single base substitution A G intron_variant PBCA-DE 7 129545390 129545390 single base substitution T C intron_variant PBCA-DE 7 129550169 129550169 insertion of <=200bp - A intron_variant PBCA-DE 7 129559981 129559981 single base substitution C G intron_variant PRAD-CA 7 129470658 129470658 single base substitution T C 3_prime_UTR_variant PRAD-CA 7 129470658 129470658 single base substitution T C downstream_gene_variant PRAD-CA 7 129499362 129499362 single base substitution T C intron_variant PRAD-CA 7 129499362 129499362 single base substitution T C upstream_gene_variant PRAD-CA 7 129503833 129503833 single base substitution A C intron_variant PRAD-CA 7 129505998 129505998 single base substitution G A intron_variant PRAD-CA 7 129538667 129538667 single base substitution C T intron_variant PRAD-CA 7 129550282 129550282 single base substitution T C intron_variant PRAD-CA 7 129572992 129572992 single base substitution A C intron_variant PRAD-CA 7 129574773 129574773 single base substitution A G intron_variant PRAD-CA 7 129574785 129574785 single base substitution A G intron_variant PRAD-CA 7 129582582 129582582 single base substitution A G intron_variant PRAD-CA 7 129586260 129586260 single base substitution A C intron_variant PRAD-CA 7 129589667 129589667 single base substitution G T intron_variant PRAD-CA 7 129592517 129592517 single base substitution G A 5_prime_UTR_variant PRAD-CA 7 129592517 129592517 single base substitution G A upstream_gene_variant PRAD-CA 7 129593679 129593679 single base substitution T C upstream_gene_variant PRAD-UK 7 129466380 129466380 single base substitution A G downstream_gene_variant PRAD-UK 7 129469325 129469325 single base substitution A G downstream_gene_variant PRAD-UK 7 129511465 129511465 deletion of <=200bp A - intron_variant PRAD-UK 7 129513518 129513518 single base substitution T A intron_variant PRAD-UK 7 129520162 129520162 single base substitution C A intron_variant PRAD-UK 7 129523955 129523955 insertion of <=200bp - A intron_variant PRAD-UK 7 129523955 129523955 insertion of <=200bp - A upstream_gene_variant PRAD-UK 7 129526922 129526922 single base substitution T A intron_variant PRAD-UK 7 129538163 129538163 single base substitution G T intron_variant PRAD-UK 7 129566081 129566081 single base substitution G C intron_variant PRAD-UK 7 129594365 129594365 single base substitution C T upstream_gene_variant RECA-EU 7 129470337 129470337 single base substitution T G downstream_gene_variant RECA-EU 7 129480867 129480867 single base substitution C A intron_variant RECA-EU 7 129480867 129480867 single base substitution C A upstream_gene_variant RECA-EU 7 129484509 129484509 single base substitution T C intron_variant RECA-EU 7 129484509 129484509 single base substitution T C upstream_gene_variant RECA-EU 7 129494932 129494932 single base substitution G A downstream_gene_variant RECA-EU 7 129494932 129494932 single base substitution G A intron_variant RECA-EU 7 129496132 129496132 single base substitution C G downstream_gene_variant RECA-EU 7 129496132 129496132 single base substitution C G intron_variant RECA-EU 7 129511290 129511290 single base substitution C T intron_variant RECA-EU 7 129515827 129515827 single base substitution T A intron_variant RECA-EU 7 129522511 129522511 single base substitution T A intron_variant RECA-EU 7 129522511 129522511 single base substitution T A upstream_gene_variant RECA-EU 7 129527830 129527830 single base substitution A C intron_variant RECA-EU 7 129528320 129528320 single base substitution C T intron_variant RECA-EU 7 129548271 129548271 single base substitution G A intron_variant RECA-EU 7 129548272 129548272 single base substitution T A intron_variant RECA-EU 7 129561219 129561219 single base substitution C T intron_variant RECA-EU 7 129561536 129561536 single base substitution A C intron_variant RECA-EU 7 129569183 129569183 single base substitution A G intron_variant RECA-EU 7 129578125 129578125 single base substitution G A intron_variant RECA-EU 7 129581200 129581200 single base substitution C T intron_variant RECA-EU 7 129591436 129591436 single base substitution A G intron_variant RECA-EU 7 129591436 129591436 single base substitution A G upstream_gene_variant SKCA-BR 7 129466782 129466782 single base substitution G A downstream_gene_variant SKCA-BR 7 129469162 129469162 single base substitution A C downstream_gene_variant SKCA-BR 7 129474412 129474412 single base substitution G A 3_prime_UTR_variant SKCA-BR 7 129474412 129474412 single base substitution G A downstream_gene_variant SKCA-BR 7 129475053 129475053 single base substitution G A downstream_gene_variant SKCA-BR 7 129475053 129475053 single base substitution G A intron_variant SKCA-BR 7 129477701 129477703 deletion of <=200bp ACG - downstream_gene_variant SKCA-BR 7 129477701 129477703 deletion of <=200bp ACG - intron_variant SKCA-BR 7 129477705 129477705 single base substitution T A downstream_gene_variant SKCA-BR 7 129477705 129477705 single base substitution T A intron_variant SKCA-BR 7 129477706 129477706 single base substitution G A downstream_gene_variant SKCA-BR 7 129477706 129477706 single base substitution G A intron_variant SKCA-BR 7 129478702 129478702 single base substitution C T downstream_gene_variant SKCA-BR 7 129478702 129478702 single base substitution C T intron_variant SKCA-BR 7 129480351 129480351 single base substitution T C intron_variant SKCA-BR 7 129480351 129480351 single base substitution T C upstream_gene_variant SKCA-BR 7 129483170 129483170 single base substitution T G intron_variant SKCA-BR 7 129483170 129483170 single base substitution T G upstream_gene_variant SKCA-BR 7 129483444 129483444 single base substitution G A intron_variant SKCA-BR 7 129483444 129483444 single base substitution G A upstream_gene_variant SKCA-BR 7 129486186 129486198 deletion of <=200bp AAATAATAATAAT - intron_variant SKCA-BR 7 129486865 129486865 insertion of <=200bp - AT intron_variant SKCA-BR 7 129486865 129486865 single base substitution A T intron_variant SKCA-BR 7 129489213 129489213 single base substitution T G intron_variant SKCA-BR 7 129492286 129492286 single base substitution G A downstream_gene_variant SKCA-BR 7 129492286 129492286 single base substitution G A intron_variant SKCA-BR 7 129492782 129492782 single base substitution T G downstream_gene_variant SKCA-BR 7 129492782 129492782 single base substitution T G intron_variant SKCA-BR 7 129493899 129493899 insertion of <=200bp - AG downstream_gene_variant SKCA-BR 7 129493899 129493899 insertion of <=200bp - AG intron_variant SKCA-BR 7 129502714 129502714 single base substitution C A intron_variant SKCA-BR 7 129502714 129502714 single base substitution C A upstream_gene_variant SKCA-BR 7 129503244 129503244 single base substitution G A intron_variant SKCA-BR 7 129503244 129503244 single base substitution G A upstream_gene_variant SKCA-BR 7 129511553 129511553 insertion of <=200bp - CAAATAAAA intron_variant SKCA-BR 7 129511553 129511553 insertion of <=200bp - CA intron_variant SKCA-BR 7 129512685 129512693 deletion of <=200bp CAAAAAAAA - intron_variant SKCA-BR 7 129513607 129513607 single base substitution T A intron_variant SKCA-BR 7 129513820 129513820 single base substitution A C intron_variant SKCA-BR 7 129514715 129514715 single base substitution A G intron_variant SKCA-BR 7 129514862 129514862 single base substitution T A intron_variant SKCA-BR 7 129518199 129518199 single base substitution G A intron_variant SKCA-BR 7 129518698 129518698 insertion of <=200bp - CA intron_variant SKCA-BR 7 129523503 129523503 single base substitution G A intron_variant SKCA-BR 7 129523503 129523503 single base substitution G A upstream_gene_variant SKCA-BR 7 129527058 129527059 deletion of <=200bp CT - intron_variant SKCA-BR 7 129527983 129527983 single base substitution T A intron_variant SKCA-BR 7 129533669 129533669 single base substitution T G intron_variant SKCA-BR 7 129535255 129535255 single base substitution G A intron_variant SKCA-BR 7 129538092 129538092 single base substitution G A intron_variant SKCA-BR 7 129538101 129538101 single base substitution A C intron_variant SKCA-BR 7 129538653 129538653 insertion of <=200bp - CTT intron_variant SKCA-BR 7 129541107 129541107 single base substitution A G intron_variant SKCA-BR 7 129541646 129541646 single base substitution G A intron_variant SKCA-BR 7 129543226 129543226 single base substitution C A intron_variant SKCA-BR 7 129544151 129544151 single base substitution G A intron_variant SKCA-BR 7 129546672 129546672 single base substitution T C intron_variant SKCA-BR 7 129549800 129549800 single base substitution T A intron_variant SKCA-BR 7 129549801 129549801 single base substitution T A intron_variant SKCA-BR 7 129552211 129552211 single base substitution G A intron_variant SKCA-BR 7 129556607 129556607 single base substitution G A intron_variant SKCA-BR 7 129567738 129567738 single base substitution A T intron_variant SKCA-BR 7 129567865 129567866 deletion of <=200bp TA - intron_variant SKCA-BR 7 129570748 129570748 insertion of <=200bp - AC intron_variant SKCA-BR 7 129571610 129571610 single base substitution G A intron_variant SKCA-BR 7 129575278 129575278 single base substitution G A intron_variant SKCA-BR 7 129576558 129576558 single base substitution A G intron_variant SKCA-BR 7 129576847 129576847 single base substitution C A intron_variant SKCA-BR 7 129577024 129577024 single base substitution C T intron_variant SKCA-BR 7 129578553 129578553 single base substitution A G intron_variant SKCA-BR 7 129578575 129578575 single base substitution C A intron_variant SKCA-BR 7 129579259 129579259 single base substitution G A intron_variant SKCA-BR 7 129579977 129579977 single base substitution C A intron_variant SKCA-BR 7 129583569 129583569 single base substitution T C intron_variant SKCA-BR 7 129584592 129584592 single base substitution G A intron_variant SKCA-BR 7 129585566 129585566 single base substitution G A intron_variant SKCA-BR 7 129586354 129586354 single base substitution C T intron_variant SKCA-BR 7 129592542 129592542 single base substitution C T 5_prime_UTR_variant SKCA-BR 7 129592542 129592542 single base substitution C T upstream_gene_variant SKCA-BR 7 129593673 129593673 single base substitution C T upstream_gene_variant SKCA-BR 7 129596295 129596295 single base substitution C G upstream_gene_variant SKCA-BR 7 129597506 129597508 deletion of <=200bp ACT - upstream_gene_variant SKCM-US 7 129497352 129497352 single base substitution A C downstream_gene_variant SKCM-US 7 129497352 129497352 single base substitution A C exon_variant SKCM-US 7 129497352 129497352 single base substitution A C intron_variant SKCM-US 7 129497352 129497352 single base substitution A C splice_region_variant SKCM-US 7 129497352 129497352 single base substitution A C stop_gained Y66* 198T>G SKCM-US 7 129497352 129497352 single base substitution A C stop_gained Y99* 297T>G STAD-US 7 129479104 129479104 single base substitution C T 3_prime_UTR_variant STAD-US 7 129479104 129479104 single base substitution C T exon_variant STAD-US 7 129479104 129479104 single base substitution C T missense_variant G104S 310G>A STAD-US 7 129479104 129479104 single base substitution C T missense_variant G124S 370G>A STAD-US 7 129479104 129479104 single base substitution C T missense_variant G91S 271G>A STAD-US 7 129479104 129479104 single base substitution C T missense_variant G93S 277G>A THCA-SA 7 129473739 129473739 single base substitution C T 3_prime_UTR_variant THCA-SA 7 129473739 129473739 single base substitution C T downstream_gene_variant UCEC-US 7 129474806 129474806 single base substitution C T downstream_gene_variant UCEC-US 7 129474806 129474806 single base substitution C T missense_variant E142K 424G>A UCEC-US 7 129474806 129474806 single base substitution C T missense_variant E144K 430G>A UCEC-US 7 129474806 129474806 single base substitution C T missense_variant E175K 523G>A

Mutation - COSMIC Sample Name Mutation ID Mutation CDS Mutation AA Mutation Description Mutation Genome Position Mutation Strand TCGA-LP-A5U2-01 COSM4833801 c.262C>T p.L88L Substitution - coding silent 7:129857547-129857547 - LUAD-B00416 COSM331533 c.243A>T p.E81D Substitution - Missense 7:129858904-129858904 - TCGA-CJ-5682-01 COSM484815 c.344A>T p.Y115F Substitution - Missense 7:129839290-129839290 - LUAD-F00162 COSM366674 c.205G>T p.G69* Substitution - Nonsense 7:129879568-129879568 - tumor_4163639 COSM3928027 c.53+5C>T p.? Unknown 7:129952498-129952498 - TCGA-BP-4982-01 COSM484816 c.50A>T p.K17M Substitution - Missense 7:129952506-129952506 - CRC-8 COSM304928 c.299-1G>T p.? Unknown 7:129839336-129839336 - TCGA-DD-A1EF-01 COSM4915643 c.75T>C p.V25V Substitution - coding silent 7:129880950-129880950 - CSCC-47-T COSM4492359 c.396C>A p.H132Q Substitution - Missense 7:129839238-129839238 - PARIAD COSM5005660 c.484G>A p.G162R Substitution - Missense 7:129835005-129835005 - TCGA-CG-4305-01 COSM3878065 c.370G>A p.G124S Substitution - Missense 7:129839264-129839264 - SC_9081 COSM5569275 c.483C>T p.T161T Substitution - coding silent 7:129835006-129835006 - 13681 COSM5615779 c.169C>T p.L57L Substitution - coding silent 7:129879604-129879604 - TCGA-AZ-6598-01 COSM3698022 c.54-1G>A p.? Unknown 7:129880972-129880972 - TCGA-D1-A17Q-01 COSM1085479 c.523G>A p.E175K Substitution - Missense 7:129834966-129834966 - SJHGG003_A COSM4968950 c.269T>C p.V90A Substitution - Missense 7:129857540-129857540 - TCGA-D1-A17F-01 COSM1085480 c.221T>A p.I74N Substitution - Missense 7:129858926-129858926 - CP66-MEL COSM23450 c.351C>T p.N117N Substitution - coding silent 7:129839283-129839283 - 394 COSM1448035 c.350A>G p.N117S Substitution - Missense 7:129839284-129839284 - YUOMEGA COSM5406494 c.403G>A p.E135K Substitution - Missense 7:129839231-129839231 - TCGA-EE-A3JI-06 COSM3633218 c.297T>G p.Y99* Substitution - Nonsense 7:129857512-129857512 - 8061185 COSM4389217 c.31A>G p.M11V Substitution - Missense 7:129952525-129952525 - TCGA-DI-A0WH-01 COSM1085478 c.548T>C p.L183S Substitution - Missense 7:129834941-129834941 - HCC11 COSM1622336 c.368A>G p.N123S Substitution - Missense 7:129839266-129839266 - TCGA-DS-A0VN-01 COSM461680 c.487G>A p.D163N Substitution - Missense 7:129835002-129835002 - TCGA-G4-6586-01 COSM1448034 c.444C>T p.Y148Y Substitution - coding silent 7:129835045-129835045 - HCC11T COSM1622336 c.368A>G p.N123S Substitution - Missense 7:129839266-129839266 - TCGA-AA-A010-01 COSM286231 c.427+7G>T p.? Unknown 7:129839200-129839200 - I2L-P26-Tumor-Organoid COSM5358327 c.459G>A p.A153A Substitution - coding silent 7:129835030-129835030 -

Mutation - CGAP UNIGENE CYTOBAND OMIM SNP Hs.643548 7q32 601082

Mutation - IntOGen Mutated from(ref) Mutated to(alt) Consequence Type AA Mutation CDS Mutation Chr Pos Cancer A C Nonsense p.Y99* c.297T>G 7 129497352 CM C A Missense p.W51L c.152G>T 7 129519461 STAD C G CdsStopSNV . c.549G>C 7 129474780 STAD C T 5-UTRSNV . c.1-78G>A 7 129592473 ESCA C T Missense p.E182K c.544G>A 7 129474785 CM C T Missense p.G124S c.370G>A 7 129479104 STAD G A Synonymous p.L57L c.169C>T 7 129519444 NSCLC T A Missense p.K17M c.50A>T 7 129592346 RCCC T A Missense p.Y115F c.344A>T 7 129479130 RCCC T C IntronicSNV . c.298+1802A>G 7 129495549 CLL