Mutation - TCGA Type Chromosome Start Position End Position Strand Variant Classification Variant Type Reference Allele Tumor_seq Allele 1 Tumor_seq Allele 2 Tumor Sample Barcode Matched Norm Sample Barcode Genome Change cDNA Change Codon Change Protein Change ACC 2 7164508 7164508 + Missense_Mutation SNP T T C TCGA-OR-A5K4-01A-11D-A29I-10 TCGA-OR-A5K4-10A-01D-A29L-10 g.chr2:7164508T>C c.518T>C c.(517-519)tTc>tCc p.F173S BLCA 2 7137190 7137190 + Silent SNP C C T TCGA-ZF-AA4V-01A-11D-A38G-08 TCGA-ZF-AA4V-10A-01D-A38J-08 g.chr2:7137190C>T c.133C>T c.(133-135)Ctg>Ttg p.L45L BLCA 2 7154882 7154882 + Missense_Mutation SNP A A G TCGA-ZF-A9RF-01A-11D-A38G-08 TCGA-ZF-A9RF-10A-01D-A38J-08 g.chr2:7154882A>G c.280A>G c.(280-282)Aaa>Gaa p.K94E BLCA 2 7160784 7160784 + Missense_Mutation SNP C C G TCGA-BT-A2LA-01A-11D-A18F-08 TCGA-BT-A2LA-11A-11D-A18F-08 g.chr2:7160784C>G c.482C>G c.(481-483)cCg>cGg p.P161R BLCA 2 7164640 7164640 + Missense_Mutation SNP C C T TCGA-K4-A5RJ-01A-11D-A289-08 TCGA-K4-A5RJ-10A-01D-A289-08 g.chr2:7164640C>T c.650C>T c.(649-651)tCt>tTt p.S217F BRCA 2 7164587 7164587 + Silent SNP G G A TCGA-C8-A12W-01A-11D-A10Y-09 TCGA-C8-A12W-10A-01D-A110-09 g.chr2:7164587G>A c.597G>A c.(595-597)gcG>gcA p.A199A BRCA 2 7179763 7179763 + Missense_Mutation SNP G G A TCGA-AR-A1AQ-01A-11D-A12Q-09 TCGA-AR-A1AQ-10A-01D-A12Q-09 g.chr2:7179763G>A c.751G>A c.(751-753)Gtg>Atg p.V251M COAD 2 7160638 7160638 + Silent SNP G G A TCGA-AA-3864-01A-01W-0995-10 TCGA-AA-3864-10A-01W-0995-10 g.chr2:7160638G>A c.336G>A c.(334-336)ccG>ccA p.P112P COAD 2 7160664 7160664 + Missense_Mutation SNP A A C TCGA-AA-3492-01A-01D-1408-10 TCGA-AA-3492-11A-01D-1408-10 g.chr2:7160664A>C c.362A>C c.(361-363)cAg>cCg p.Q121P COADREAD 2 7154894 7154894 + Missense_Mutation SNP T T A TCGA-AG-A002-01A-01W-A00K-09 TCGA-AG-A002-10A-01W-A00K-09 g.chr2:7154894T>A c.292T>A c.(292-294)Ttt>Att p.F98I COADREAD 2 7160638 7160638 + Silent SNP G G A TCGA-AA-3864-01A-01W-0995-10 TCGA-AA-3864-10A-01W-0995-10 g.chr2:7160638G>A c.336G>A c.(334-336)ccG>ccA p.P112P COADREAD 2 7160664 7160664 + Missense_Mutation SNP A A C TCGA-AA-3492-01A-01D-1408-10 TCGA-AA-3492-11A-01D-1408-10 g.chr2:7160664A>C c.362A>C c.(361-363)cAg>cCg p.Q121P ESCA 2 7160801 7160801 + Missense_Mutation SNP G G C TCGA-Q9-A6FU-01A-11D-A31U-09 TCGA-Q9-A6FU-10A-01D-A31U-09 g.chr2:7160801G>C c.499G>C c.(499-501)Ggg>Cgg p.G167R ESCA 2 7179767 7179767 + Missense_Mutation SNP G G A TCGA-L5-A8NM-01A-11D-A37C-09 TCGA-L5-A8NM-11A-12D-A37F-09 g.chr2:7179767G>A c.755G>A c.(754-756)gGc>gAc p.G252D GBM 2 7154885 7154885 + Missense_Mutation SNP A A G TCGA-06-2558-01A-01D-1494-08 TCGA-06-2558-10A-01D-1494-08 g.chr2:7154885A>G c.283A>G c.(283-285)Aag>Gag p.K95E GBMLGG 2 7154885 7154885 + Missense_Mutation SNP A A G TCGA-06-2558-01A-01D-1494-08 TCGA-06-2558-10A-01D-1494-08 g.chr2:7154885A>G c.283A>G c.(283-285)Aag>Gag p.K95E GBMLGG 2 7164513 7164513 + Missense_Mutation SNP A A G TCGA-HT-7694-01A-11D-2253-08 TCGA-HT-7694-10A-01D-2253-08 g.chr2:7164513A>G c.523A>G c.(523-525)Atg>Gtg p.M175V GBMLGG 2 7170284 7170284 + Missense_Mutation SNP A A G TCGA-DU-6392-01A-11D-1705-08 TCGA-DU-6392-10A-01D-1705-08 g.chr2:7170284A>G c.685A>G c.(685-687)Aag>Gag p.K229E HNSC 2 7164499 7164499 + Splice_Site SNP G G A TCGA-CN-A63U-01A-11D-A30E-08 TCGA-CN-A63U-10A-01D-A30H-08 g.chr2:7164499G>A c.e7-1 HNSC 2 7179775 7179775 + Missense_Mutation SNP G G T TCGA-CN-A63Y-01A-11D-A30E-08 TCGA-CN-A63Y-10A-01D-A30H-08 g.chr2:7179775G>T c.763G>T c.(763-765)Gca>Tca p.A255S KIPAN 2 7160712 7160712 + Missense_Mutation SNP C C A TCGA-BP-4345-01A-01D-1366-10 TCGA-BP-4345-11A-01D-1366-10 g.chr2:7160712C>A c.410C>A c.(409-411)gCc>gAc p.A137D KIPAN 2 7164573 7164573 + Missense_Mutation SNP G G C TCGA-CZ-5470-01A-01D-1501-10 TCGA-CZ-5470-11A-01D-1501-10 g.chr2:7164573G>C c.583G>C c.(583-585)Gac>Cac p.D195H KIRC 2 7160712 7160712 + Missense_Mutation SNP C C A TCGA-BP-4345-01A-01D-1366-10 TCGA-BP-4345-11A-01D-1366-10 g.chr2:7160712C>A c.410C>A c.(409-411)gCc>gAc p.A137D KIRC 2 7164573 7164573 + Missense_Mutation SNP G G C TCGA-CZ-5470-01A-01D-1501-10 TCGA-CZ-5470-11A-01D-1501-10 g.chr2:7164573G>C c.583G>C c.(583-585)Gac>Cac p.D195H LGG 2 7164513 7164513 + Missense_Mutation SNP A A G TCGA-HT-7694-01A-11D-2253-08 TCGA-HT-7694-10A-01D-2253-08 g.chr2:7164513A>G c.523A>G c.(523-525)Atg>Gtg p.M175V LGG 2 7170284 7170284 + Missense_Mutation SNP A A G TCGA-DU-6392-01A-11D-1705-08 TCGA-DU-6392-10A-01D-1705-08 g.chr2:7170284A>G c.685A>G c.(685-687)Aag>Gag p.K229E LIHC 2 7137130 7137130 + Frame_Shift_Del DEL G G - TCGA-DD-A3A0-01A-11D-A20W-10 TCGA-DD-A3A0-11A-11D-A20W-10 g.chr2:7137130delG c.73delG c.(73-75)gggfs p.G25fs LUAD 2 7137104 7137104 + Missense_Mutation SNP C C T TCGA-05-4427-01A-21D-1855-08 TCGA-05-4427-10A-01D-1855-08 g.chr2:7137104C>T c.47C>T c.(46-48)cCg>cTg p.P16L LUAD 2 7154643 7154643 + Missense_Mutation SNP G G C TCGA-MP-A4TF-01A-11D-A25L-08 TCGA-MP-A4TF-10A-01D-A25L-08 g.chr2:7154643G>C c.194G>C c.(193-195)tGc>tCc p.C65S LUAD 2 7154848 7154848 + Missense_Mutation SNP G G T TCGA-05-4424-01A-22D-1855-08 TCGA-05-4424-10A-01D-1855-08 g.chr2:7154848G>T c.246G>T c.(244-246)gaG>gaT p.E82D LUAD 2 7160679 7160679 + Missense_Mutation SNP G G T TCGA-MN-A4N4-01A-12D-A24P-08 TCGA-MN-A4N4-10A-01D-A24P-08 g.chr2:7160679G>T c.377G>T c.(376-378)gGg>gTg p.G126V LUAD 2 7164541 7164541 + Missense_Mutation SNP G G T TCGA-17-Z056-01A-01W-0747-08 TCGA-17-Z056-11A-01W-0747-08 g.chr2:7164541G>T c.551G>T c.(550-552)cGc>cTc p.R184L LUAD 2 7164554 7164554 + Silent SNP C C T TCGA-17-Z050-01A-01W-0747-08 TCGA-17-Z050-11A-01W-0747-08 g.chr2:7164554C>T c.564C>T c.(562-564)tgC>tgT p.C188C LUAD 2 7164598 7164598 + Missense_Mutation SNP G G T TCGA-38-4632-01A-01D-1753-08 TCGA-38-4632-11A-01D-1753-08 g.chr2:7164598G>T c.608G>T c.(607-609)tGc>tTc p.C203F LUAD 2 7164644 7164644 + Silent SNP G G T TCGA-86-8358-01A-11D-2323-08 TCGA-86-8358-10A-01D-2323-08 g.chr2:7164644G>T c.654G>T c.(652-654)ctG>ctT p.L218L LUAD 2 7170260 7170260 + Missense_Mutation SNP G G A TCGA-80-5611-01A-01D-1625-08 TCGA-80-5611-10A-01D-1625-08 g.chr2:7170260G>A c.661G>A c.(661-663)Gat>Aat p.D221N LUAD 2 7170334 7170334 + Nonsense_Mutation SNP G G A TCGA-55-6983-01A-11D-1945-08 TCGA-55-6983-11A-01D-1945-08 g.chr2:7170334G>A c.735G>A c.(733-735)tgG>tgA p.W245* LUSC 2 7137071 7137071 + Missense_Mutation SNP G G C TCGA-39-5019-01A-01D-1817-08 TCGA-39-5019-11A-01D-1817-08 g.chr2:7137071G>C c.14G>C c.(13-15)aGg>aCg p.R5T LUSC 2 7137104 7137104 + Missense_Mutation SNP C C T TCGA-34-5236-01A-21D-1817-08 TCGA-34-5236-10A-01D-1817-08 g.chr2:7137104C>T c.47C>T c.(46-48)cCg>cTg p.P16L LUSC 2 7137169 7137169 + Missense_Mutation SNP T T C TCGA-43-3394-01A-01D-0983-08 TCGA-43-3394-10A-01D-0983-08 g.chr2:7137169T>C c.112T>C c.(112-114)Tgc>Cgc p.C38R LUSC 2 7154603 7154603 + Missense_Mutation SNP G G A TCGA-34-2600-01A-01D-1522-08 TCGA-34-2600-11A-01D-1522-08 g.chr2:7154603G>A c.154G>A c.(154-156)Gag>Aag p.E52K LUSC 2 7154628 7154628 + Missense_Mutation SNP A A T TCGA-66-2786-01A-01D-1522-08 TCGA-66-2786-11A-01D-1522-08 g.chr2:7154628A>T c.179A>T c.(178-180)gAa>gTa p.E60V LUSC 2 7154903 7154903 + Splice_Site SNP G G C TCGA-66-2756-01A-01D-1522-08 TCGA-66-2756-11A-01D-1522-08 g.chr2:7154903G>C c.301G>C c.(301-303)Gag>Cag p.E101Q LUSC 2 7160794 7160794 + Silent SNP C C T TCGA-18-3409-01A-01D-0983-08 TCGA-18-3409-11A-01D-0983-08 g.chr2:7160794C>T c.492C>T c.(490-492)ttC>ttT p.F164F LUSC 2 7164553 7164553 + Missense_Mutation SNP G G T TCGA-22-1016-01A-01D-1521-08 TCGA-22-1016-11A-01D-1521-08 g.chr2:7164553G>T c.563G>T c.(562-564)tGc>tTc p.C188F OV 2 7137070 7137070 + Silent SNP A A C TCGA-13-0897-01A-01W-0421-09 TCGA-13-0897-10A-01W-0421-09 g.chr2:7137070A>C c.13A>C c.(13-15)Agg>Cgg p.R5R PAAD 2 7170280 7170280 + Silent SNP C C T TCGA-IB-7651-01A-11D-2154-08 TCGA-IB-7651-10A-01D-2154-08 g.chr2:7170280C>T c.681C>T c.(679-681)taC>taT p.Y227Y PRAD 2 7137191 7137191 + Splice_Site SNP T T G TCGA-ZG-A9M4-01A-11D-A41K-08 TCGA-ZG-A9M4-10A-01D-A41N-08 g.chr2:7137191T>G c.134T>G c.(133-135)cTg>cGg p.L45R PRAD 2 7160686 7160686 + Silent SNP G G A TCGA-HC-8262-01A-11D-2260-08 TCGA-HC-8262-10A-01D-2260-08 g.chr2:7160686G>A c.384G>A c.(382-384)caG>caA p.Q128Q PRAD 2 7179870 7179870 + Silent SNP C C T TCGA-KK-A8IB-01A-11D-A364-08 TCGA-KK-A8IB-11A-11D-A362-08 g.chr2:7179870C>T c.858C>T c.(856-858)gaC>gaT p.D286D READ 2 7154894 7154894 + Missense_Mutation SNP T T A TCGA-AG-A002-01A-01W-A00K-09 TCGA-AG-A002-10A-01W-A00K-09 g.chr2:7154894T>A c.292T>A c.(292-294)Ttt>Att p.F98I SKCM 2 7137194 7137194 + Splice_Site SNP T T G TCGA-D9-A6EC-06A-11D-A30X-08 TCGA-D9-A6EC-10A-01D-A30X-08 g.chr2:7137194T>G c.e3+2 SKCM 2 7154674 7154674 + Silent SNP C C T TCGA-EE-A2MD-06A-11D-A197-08 TCGA-EE-A2MD-10A-01D-A199-08 g.chr2:7154674C>T c.225C>T c.(223-225)caC>caT p.H75H SKCM 2 7160716 7160716 + Silent SNP C C T TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 g.chr2:7160716C>T c.414C>T c.(412-414)tgC>tgT p.C138C SKCM 2 7160794 7160794 + Silent SNP C C T TCGA-D9-A6EA-06A-11D-A30X-08 TCGA-D9-A6EA-10A-01D-A30X-08 g.chr2:7160794C>T c.492C>T c.(490-492)ttC>ttT p.F164F SKCM 2 7179829 7179829 + Missense_Mutation SNP C C T TCGA-D9-A6EC-06A-11D-A30X-08 TCGA-D9-A6EC-10A-01D-A30X-08 g.chr2:7179829C>T c.817C>T c.(817-819)Ccc>Tcc p.P273S

Mutation - ICGC Project Code Chromosome Chromosome Start Chromosome End Mutation Type Mutated from Allele Mutated to Allele Consequence Type AA Mutation CDS Mutation BOCA-FR 2 7173195 7173195 single base substitution A G intron_variant BRCA-EU 2 7053000 7053000 single base substitution G A upstream_gene_variant BRCA-EU 2 7053358 7053358 single base substitution A G upstream_gene_variant BRCA-EU 2 7054924 7054924 single base substitution C A upstream_gene_variant BRCA-EU 2 7054980 7054980 single base substitution T A upstream_gene_variant BRCA-EU 2 7056834 7056834 single base substitution C T upstream_gene_variant BRCA-EU 2 7057567 7057567 single base substitution C T 5_prime_UTR_premature_start_codon_gain_variant BRCA-EU 2 7057567 7057567 single base substitution C T upstream_gene_variant BRCA-EU 2 7058256 7058256 single base substitution C T intron_variant BRCA-EU 2 7059844 7059844 single base substitution G A intron_variant BRCA-EU 2 7059900 7059900 single base substitution G T intron_variant BRCA-EU 2 7060164 7060164 single base substitution G T intron_variant BRCA-EU 2 7062526 7062526 single base substitution C A intron_variant BRCA-EU 2 7063125 7063125 single base substitution A T intron_variant BRCA-EU 2 7064460 7064460 single base substitution G A intron_variant BRCA-EU 2 7066952 7066952 single base substitution A G intron_variant BRCA-EU 2 7069949 7069949 single base substitution G A intron_variant BRCA-EU 2 7069949 7069949 single base substitution G A upstream_gene_variant BRCA-EU 2 7070190 7070190 single base substitution G A intron_variant BRCA-EU 2 7070190 7070190 single base substitution G A upstream_gene_variant BRCA-EU 2 7070578 7070578 single base substitution C T intron_variant BRCA-EU 2 7070578 7070578 single base substitution C T upstream_gene_variant BRCA-EU 2 7071262 7071262 single base substitution C T intron_variant BRCA-EU 2 7071262 7071262 single base substitution C T upstream_gene_variant BRCA-EU 2 7071515 7071515 single base substitution G T intron_variant BRCA-EU 2 7071515 7071515 single base substitution G T upstream_gene_variant BRCA-EU 2 7071616 7071616 single base substitution G A intron_variant BRCA-EU 2 7071616 7071616 single base substitution G A upstream_gene_variant BRCA-EU 2 7072973 7072973 single base substitution A G intron_variant BRCA-EU 2 7072973 7072973 single base substitution A G upstream_gene_variant BRCA-EU 2 7073165 7073165 single base substitution A G intron_variant BRCA-EU 2 7073165 7073165 single base substitution A G upstream_gene_variant BRCA-EU 2 7073317 7073317 single base substitution G A 5_prime_UTR_variant BRCA-EU 2 7073317 7073317 single base substitution G A exon_variant BRCA-EU 2 7073317 7073317 single base substitution G A intron_variant BRCA-EU 2 7074347 7074347 single base substitution A G intron_variant BRCA-EU 2 7074542 7074542 single base substitution G T intron_variant BRCA-EU 2 7074765 7074765 single base substitution C G intron_variant BRCA-EU 2 7074848 7074848 single base substitution T C intron_variant BRCA-EU 2 7074945 7074945 single base substitution C T intron_variant BRCA-EU 2 7075702 7075702 single base substitution G C intron_variant BRCA-EU 2 7076038 7076038 single base substitution A T intron_variant BRCA-EU 2 7077147 7077147 single base substitution C T intron_variant BRCA-EU 2 7077535 7077535 single base substitution G A intron_variant BRCA-EU 2 7078629 7078629 single base substitution G T intron_variant BRCA-EU 2 7078818 7078818 single base substitution T A intron_variant BRCA-EU 2 7079566 7079566 single base substitution C G intron_variant BRCA-EU 2 7080144 7080144 single base substitution C G intron_variant BRCA-EU 2 7081604 7081604 single base substitution G A intron_variant BRCA-EU 2 7082719 7082719 single base substitution G A intron_variant BRCA-EU 2 7083310 7083310 single base substitution C T intron_variant BRCA-EU 2 7083402 7083402 single base substitution G T intron_variant BRCA-EU 2 7083601 7083601 single base substitution G C intron_variant BRCA-EU 2 7084788 7084788 single base substitution G C intron_variant BRCA-EU 2 7084788 7084788 single base substitution G T intron_variant BRCA-EU 2 7085423 7085423 single base substitution G C intron_variant BRCA-EU 2 7086766 7086766 single base substitution C A intron_variant BRCA-EU 2 7086790 7086790 single base substitution G A intron_variant BRCA-EU 2 7087738 7087738 single base substitution G C intron_variant BRCA-EU 2 7088473 7088473 single base substitution C G intron_variant BRCA-EU 2 7088507 7088507 single base substitution C G intron_variant BRCA-EU 2 7092208 7092208 single base substitution C T intron_variant BRCA-EU 2 7093610 7093610 single base substitution C G intron_variant BRCA-EU 2 7094040 7094040 single base substitution A C intron_variant BRCA-EU 2 7094226 7094226 single base substitution T A intron_variant BRCA-EU 2 7095953 7095953 deletion of <=200bp G - intron_variant BRCA-EU 2 7096070 7096070 single base substitution G T intron_variant BRCA-EU 2 7096368 7096368 insertion of <=200bp - T intron_variant BRCA-EU 2 7096855 7096855 single base substitution G A intron_variant BRCA-EU 2 7098136 7098136 single base substitution C T intron_variant BRCA-EU 2 7098757 7098757 single base substitution G A intron_variant BRCA-EU 2 7099318 7099318 single base substitution C G intron_variant BRCA-EU 2 7099907 7099907 single base substitution C T intron_variant BRCA-EU 2 7102357 7102357 single base substitution C A intron_variant BRCA-EU 2 7102656 7102656 single base substitution A G intron_variant BRCA-EU 2 7104385 7104385 single base substitution T G intron_variant BRCA-EU 2 7105436 7105436 single base substitution G C intron_variant BRCA-EU 2 7106193 7106193 single base substitution G A intron_variant BRCA-EU 2 7109768 7109768 single base substitution G A intron_variant BRCA-EU 2 7110665 7110665 single base substitution A T intron_variant BRCA-EU 2 7111845 7111845 single base substitution G C intron_variant BRCA-EU 2 7112870 7112870 single base substitution G A intron_variant BRCA-EU 2 7114352 7114352 single base substitution A C intron_variant BRCA-EU 2 7114352 7114352 single base substitution A C upstream_gene_variant BRCA-EU 2 7115856 7115856 single base substitution C T intron_variant BRCA-EU 2 7115856 7115856 single base substitution C T upstream_gene_variant BRCA-EU 2 7116639 7116639 single base substitution G A intron_variant BRCA-EU 2 7116639 7116639 single base substitution G A upstream_gene_variant BRCA-EU 2 7117163 7117163 single base substitution C G intron_variant BRCA-EU 2 7117163 7117163 single base substitution C G upstream_gene_variant BRCA-EU 2 7117178 7117178 deletion of <=200bp A - intron_variant BRCA-EU 2 7117178 7117178 deletion of <=200bp A - upstream_gene_variant BRCA-EU 2 7117940 7117940 single base substitution G C intron_variant BRCA-EU 2 7117940 7117940 single base substitution G C upstream_gene_variant BRCA-EU 2 7119510 7119510 insertion of <=200bp - T intron_variant BRCA-EU 2 7121061 7121061 single base substitution G A intron_variant BRCA-EU 2 7122968 7122968 single base substitution T G intron_variant BRCA-EU 2 7123588 7123591 deletion of <=200bp CCAT - intron_variant BRCA-EU 2 7124852 7124852 single base substitution T C intron_variant BRCA-EU 2 7125223 7125223 single base substitution C T intron_variant BRCA-EU 2 7126394 7126394 single base substitution A T intron_variant BRCA-EU 2 7127089 7127089 single base substitution G A intron_variant BRCA-EU 2 7127186 7127186 single base substitution G C intron_variant BRCA-EU 2 7129060 7129060 deletion of <=200bp T - intron_variant BRCA-EU 2 7129728 7129728 insertion of <=200bp - T intron_variant BRCA-EU 2 7132495 7132495 single base substitution G A intron_variant BRCA-EU 2 7132495 7132495 single base substitution G A upstream_gene_variant BRCA-EU 2 7133906 7133906 single base substitution G A intron_variant BRCA-EU 2 7133906 7133906 single base substitution G A upstream_gene_variant BRCA-EU 2 7134428 7134428 single base substitution A G intron_variant BRCA-EU 2 7134428 7134428 single base substitution A G upstream_gene_variant BRCA-EU 2 7134917 7134917 single base substitution C G intron_variant BRCA-EU 2 7134917 7134917 single base substitution C G upstream_gene_variant BRCA-EU 2 7135541 7135541 single base substitution G C intron_variant BRCA-EU 2 7135541 7135541 single base substitution G C upstream_gene_variant BRCA-EU 2 7136989 7136989 single base substitution G A exon_variant BRCA-EU 2 7136989 7136989 single base substitution G A intron_variant BRCA-EU 2 7136989 7136989 single base substitution G A upstream_gene_variant BRCA-EU 2 7137593 7137593 single base substitution C T intron_variant BRCA-EU 2 7138320 7138320 single base substitution C T intron_variant BRCA-EU 2 7139376 7139376 single base substitution C T intron_variant BRCA-EU 2 7140891 7140891 deletion of <=200bp A - intron_variant BRCA-EU 2 7142927 7142927 single base substitution G A intron_variant BRCA-EU 2 7143927 7143927 single base substitution C G intron_variant BRCA-EU 2 7144442 7144442 single base substitution G T intron_variant BRCA-EU 2 7145044 7145044 deletion of <=200bp A - intron_variant BRCA-EU 2 7145284 7145284 single base substitution T C intron_variant BRCA-EU 2 7145291 7145291 single base substitution C G intron_variant BRCA-EU 2 7148884 7148884 single base substitution G T intron_variant BRCA-EU 2 7149501 7149501 single base substitution C T intron_variant BRCA-EU 2 7150669 7150669 single base substitution C G intron_variant BRCA-EU 2 7151142 7151142 single base substitution G A intron_variant BRCA-EU 2 7151330 7151330 single base substitution G A intron_variant BRCA-EU 2 7151399 7151399 single base substitution G A intron_variant BRCA-EU 2 7153185 7153185 single base substitution G C intron_variant BRCA-EU 2 7153910 7153912 deletion of <=200bp CTT - intron_variant BRCA-EU 2 7154614 7154614 single base substitution C T exon_variant BRCA-EU 2 7154614 7154614 single base substitution C T intron_variant BRCA-EU 2 7154614 7154614 single base substitution C T synonymous_variant I50I 150C>T BRCA-EU 2 7154614 7154614 single base substitution C T synonymous_variant I55I 165C>T BRCA-EU 2 7155037 7155037 single base substitution C A downstream_gene_variant BRCA-EU 2 7155037 7155037 single base substitution C A intron_variant BRCA-EU 2 7155904 7155904 single base substitution G A downstream_gene_variant BRCA-EU 2 7155904 7155904 single base substitution G A intron_variant BRCA-EU 2 7155966 7155966 single base substitution C T downstream_gene_variant BRCA-EU 2 7155966 7155966 single base substitution C T intron_variant BRCA-EU 2 7157301 7157301 single base substitution G A downstream_gene_variant BRCA-EU 2 7157301 7157301 single base substitution G A intron_variant BRCA-EU 2 7158139 7158139 single base substitution C T downstream_gene_variant BRCA-EU 2 7158139 7158139 single base substitution C T intron_variant BRCA-EU 2 7159348 7159348 single base substitution T C downstream_gene_variant BRCA-EU 2 7159348 7159348 single base substitution T C intron_variant BRCA-EU 2 7159394 7159394 single base substitution C T downstream_gene_variant BRCA-EU 2 7159394 7159394 single base substitution C T intron_variant BRCA-EU 2 7160357 7160357 single base substitution G C intron_variant BRCA-EU 2 7162710 7162710 single base substitution G A downstream_gene_variant BRCA-EU 2 7162710 7162710 single base substitution G A intron_variant BRCA-EU 2 7163273 7163273 single base substitution C G downstream_gene_variant BRCA-EU 2 7163273 7163273 single base substitution C G intron_variant BRCA-EU 2 7164497 7164497 single base substitution C T downstream_gene_variant BRCA-EU 2 7164497 7164497 single base substitution C T intron_variant BRCA-EU 2 7164497 7164497 single base substitution C T splice_region_variant BRCA-EU 2 7166010 7166010 deletion of <=200bp G - downstream_gene_variant BRCA-EU 2 7166010 7166010 deletion of <=200bp G - intron_variant BRCA-EU 2 7167218 7167218 single base substitution C T downstream_gene_variant BRCA-EU 2 7167218 7167218 single base substitution C T intron_variant BRCA-EU 2 7167850 7167850 single base substitution G A downstream_gene_variant BRCA-EU 2 7167850 7167850 single base substitution G A intron_variant BRCA-EU 2 7169792 7169792 single base substitution G T intron_variant BRCA-EU 2 7171578 7171578 single base substitution G A intron_variant BRCA-EU 2 7172643 7172643 single base substitution C A intron_variant BRCA-EU 2 7174102 7174102 single base substitution T A intron_variant BRCA-EU 2 7175246 7175246 single base substitution G A intron_variant BRCA-EU 2 7175601 7175601 single base substitution T C intron_variant BRCA-EU 2 7175696 7175696 single base substitution G A intron_variant BRCA-EU 2 7175922 7175922 insertion of <=200bp - T intron_variant BRCA-EU 2 7175937 7175937 single base substitution G C intron_variant BRCA-EU 2 7178121 7178121 single base substitution G A intron_variant BRCA-EU 2 7179375 7179375 insertion of <=200bp - GATA intron_variant BRCA-EU 2 7179996 7179996 single base substitution C T 3_prime_UTR_variant BRCA-EU 2 7179996 7179996 single base substitution C T downstream_gene_variant BRCA-EU 2 7179996 7179996 single base substitution C T intron_variant BRCA-EU 2 7180554 7180554 single base substitution C T 3_prime_UTR_variant BRCA-EU 2 7180554 7180554 single base substitution C T downstream_gene_variant BRCA-EU 2 7180554 7180554 single base substitution C T intron_variant BRCA-EU 2 7180855 7180855 single base substitution C T 3_prime_UTR_variant BRCA-EU 2 7180855 7180855 single base substitution C T downstream_gene_variant BRCA-EU 2 7180855 7180855 single base substitution C T intron_variant BRCA-EU 2 7182763 7182763 single base substitution C G 3_prime_UTR_variant BRCA-EU 2 7182763 7182763 single base substitution C G downstream_gene_variant BRCA-EU 2 7182763 7182763 single base substitution C G intron_variant BRCA-EU 2 7182773 7182773 single base substitution C G 3_prime_UTR_variant BRCA-EU 2 7182773 7182773 single base substitution C G downstream_gene_variant BRCA-EU 2 7182773 7182773 single base substitution C G intron_variant BRCA-EU 2 7183153 7183153 single base substitution C G 3_prime_UTR_variant BRCA-EU 2 7183153 7183153 single base substitution C G downstream_gene_variant BRCA-EU 2 7183153 7183153 single base substitution C G intron_variant BRCA-EU 2 7185119 7185119 single base substitution G A downstream_gene_variant BRCA-EU 2 7185119 7185119 single base substitution G A intron_variant BRCA-EU 2 7186012 7186012 single base substitution C A downstream_gene_variant BRCA-EU 2 7186012 7186012 single base substitution C A intron_variant BRCA-EU 2 7189248 7189248 single base substitution T A downstream_gene_variant BRCA-EU 2 7189248 7189248 single base substitution T A intron_variant BRCA-EU 2 7189386 7189386 single base substitution C T intron_variant BRCA-EU 2 7190319 7190319 single base substitution C G intron_variant BRCA-EU 2 7190497 7190497 single base substitution C G intron_variant BRCA-EU 2 7190507 7190507 single base substitution G T intron_variant BRCA-EU 2 7191058 7191058 single base substitution G C intron_variant BRCA-EU 2 7191360 7191360 single base substitution C A intron_variant BRCA-EU 2 7191935 7191935 single base substitution G A intron_variant BRCA-EU 2 7193043 7193043 single base substitution G A intron_variant BRCA-EU 2 7194152 7194152 single base substitution T C intron_variant BRCA-EU 2 7195419 7195419 single base substitution C G intron_variant BRCA-EU 2 7196085 7196085 single base substitution T C intron_variant BRCA-EU 2 7196886 7196886 deletion of <=200bp C - intron_variant BRCA-EU 2 7197032 7197032 single base substitution G C intron_variant BRCA-EU 2 7198049 7198049 single base substitution T C intron_variant BRCA-EU 2 7198485 7198485 single base substitution A T intron_variant BRCA-EU 2 7199373 7199373 single base substitution G A intron_variant BRCA-EU 2 7200769 7200769 single base substitution C A intron_variant BRCA-EU 2 7202433 7202433 single base substitution G A intron_variant BRCA-EU 2 7203438 7203438 single base substitution C T intron_variant BRCA-EU 2 7206408 7206408 single base substitution C T intron_variant BRCA-EU 2 7206813 7206813 single base substitution G A intron_variant BRCA-EU 2 7207190 7207190 single base substitution G A intron_variant BRCA-EU 2 7209322 7209322 single base substitution G T downstream_gene_variant BRCA-EU 2 7210390 7210390 single base substitution T G downstream_gene_variant BRCA-EU 2 7211315 7211315 single base substitution C T downstream_gene_variant BRCA-FR 2 7053000 7053000 single base substitution G A upstream_gene_variant BRCA-FR 2 7054760 7054760 single base substitution G T upstream_gene_variant BRCA-FR 2 7056834 7056834 single base substitution C T upstream_gene_variant BRCA-FR 2 7058256 7058256 single base substitution C T intron_variant BRCA-FR 2 7070578 7070578 single base substitution C T intron_variant BRCA-FR 2 7070578 7070578 single base substitution C T upstream_gene_variant BRCA-FR 2 7071616 7071616 single base substitution G A intron_variant BRCA-FR 2 7071616 7071616 single base substitution G A upstream_gene_variant BRCA-FR 2 7072973 7072973 single base substitution A G intron_variant BRCA-FR 2 7072973 7072973 single base substitution A G upstream_gene_variant BRCA-FR 2 7073317 7073317 single base substitution G A 5_prime_UTR_variant BRCA-FR 2 7073317 7073317 single base substitution G A exon_variant BRCA-FR 2 7073317 7073317 single base substitution G A intron_variant BRCA-FR 2 7081604 7081604 single base substitution G A intron_variant BRCA-FR 2 7082719 7082719 single base substitution G A intron_variant BRCA-FR 2 7089158 7089158 single base substitution C T intron_variant BRCA-FR 2 7100706 7100706 single base substitution C T intron_variant BRCA-FR 2 7114352 7114352 single base substitution A C intron_variant BRCA-FR 2 7114352 7114352 single base substitution A C upstream_gene_variant BRCA-FR 2 7117163 7117163 single base substitution C G intron_variant BRCA-FR 2 7117163 7117163 single base substitution C G upstream_gene_variant BRCA-FR 2 7124631 7124631 single base substitution C T intron_variant BRCA-FR 2 7155966 7155966 single base substitution C T downstream_gene_variant BRCA-FR 2 7155966 7155966 single base substitution C T intron_variant BRCA-FR 2 7171578 7171578 single base substitution G A intron_variant BRCA-FR 2 7175937 7175937 single base substitution G C intron_variant BRCA-FR 2 7182773 7182773 single base substitution C G 3_prime_UTR_variant BRCA-FR 2 7182773 7182773 single base substitution C G downstream_gene_variant BRCA-FR 2 7182773 7182773 single base substitution C G intron_variant BRCA-FR 2 7183153 7183153 single base substitution C G 3_prime_UTR_variant BRCA-FR 2 7183153 7183153 single base substitution C G downstream_gene_variant BRCA-FR 2 7183153 7183153 single base substitution C G intron_variant BRCA-FR 2 7199373 7199373 single base substitution G A intron_variant BRCA-FR 2 7200185 7200185 single base substitution G C intron_variant BRCA-FR 2 7201209 7201209 single base substitution G T intron_variant BRCA-FR 2 7202433 7202433 single base substitution G A intron_variant BRCA-UK 2 7066228 7066228 single base substitution G A intron_variant BRCA-UK 2 7067169 7067169 single base substitution C T intron_variant BRCA-UK 2 7069747 7069747 single base substitution C G intron_variant BRCA-UK 2 7069747 7069747 single base substitution C G upstream_gene_variant BRCA-UK 2 7071262 7071262 single base substitution C T intron_variant BRCA-UK 2 7071262 7071262 single base substitution C T upstream_gene_variant BRCA-UK 2 7075702 7075702 single base substitution G C intron_variant BRCA-UK 2 7091036 7091036 single base substitution G C intron_variant BRCA-UK 2 7099838 7099838 single base substitution C T intron_variant BRCA-UK 2 7128041 7128041 single base substitution G C intron_variant BRCA-UK 2 7180855 7180855 single base substitution C T 3_prime_UTR_variant BRCA-UK 2 7180855 7180855 single base substitution C T downstream_gene_variant BRCA-UK 2 7180855 7180855 single base substitution C T intron_variant BRCA-US 2 7164587 7164587 single base substitution G A downstream_gene_variant BRCA-US 2 7164587 7164587 single base substitution G A exon_variant BRCA-US 2 7164587 7164587 single base substitution G A synonymous_variant A194A 582G>A BRCA-US 2 7164587 7164587 single base substitution G A synonymous_variant A199A 597G>A BRCA-US 2 7179763 7179763 single base substitution G A exon_variant BRCA-US 2 7179763 7179763 single base substitution G A intron_variant BRCA-US 2 7179763 7179763 single base substitution G A missense_variant V251M 751G>A BTCA-JP 2 7130558 7130558 single base substitution C G intron_variant BTCA-JP 2 7137040 7137040 single base substitution G A exon_variant BTCA-JP 2 7137040 7137040 single base substitution G A intron_variant BTCA-JP 2 7137040 7137040 single base substitution G A splice_region_variant BTCA-JP 2 7137040 7137040 single base substitution G A upstream_gene_variant BTCA-JP 2 7154827 7154827 deletion of <=200bp T - downstream_gene_variant BTCA-JP 2 7154827 7154827 deletion of <=200bp T - intron_variant BTCA-JP 2 7154827 7154828 deletion of <=200bp TT - downstream_gene_variant BTCA-JP 2 7154827 7154828 deletion of <=200bp TT - intron_variant CLLE-ES 2 7060529 7060529 single base substitution T G intron_variant CLLE-ES 2 7073006 7073006 single base substitution T C intron_variant CLLE-ES 2 7073006 7073006 single base substitution T C upstream_gene_variant CLLE-ES 2 7092291 7092291 single base substitution G A intron_variant CLLE-ES 2 7101556 7101556 single base substitution C A intron_variant CLLE-ES 2 7101821 7101821 single base substitution C T intron_variant CLLE-ES 2 7107604 7107604 single base substitution C A intron_variant CLLE-ES 2 7111442 7111442 single base substitution C A intron_variant CLLE-ES 2 7119851 7119851 single base substitution G C intron_variant CLLE-ES 2 7128177 7128177 single base substitution A T intron_variant CLLE-ES 2 7129677 7129677 single base substitution C A intron_variant CLLE-ES 2 7130235 7130235 single base substitution T C intron_variant CLLE-ES 2 7130621 7130621 single base substitution A G intron_variant CLLE-ES 2 7156250 7156250 single base substitution A G downstream_gene_variant CLLE-ES 2 7156250 7156250 single base substitution A G intron_variant CLLE-ES 2 7162217 7162217 single base substitution C T downstream_gene_variant CLLE-ES 2 7162217 7162217 single base substitution C T intron_variant CLLE-ES 2 7177950 7177950 single base substitution A C intron_variant CLLE-ES 2 7185397 7185397 single base substitution G A downstream_gene_variant CLLE-ES 2 7185397 7185397 single base substitution G A intron_variant CLLE-ES 2 7189076 7189076 single base substitution A G downstream_gene_variant CLLE-ES 2 7189076 7189076 single base substitution A G intron_variant CLLE-ES 2 7191392 7191392 single base substitution C T intron_variant CLLE-ES 2 7192026 7192026 single base substitution C A intron_variant CLLE-ES 2 7200936 7200936 single base substitution G A intron_variant CLLE-ES 2 7203787 7203787 single base substitution G C intron_variant CLLE-ES 2 7206344 7206344 single base substitution G A intron_variant COAD-US 2 7164578 7164578 single base substitution A G downstream_gene_variant COAD-US 2 7164578 7164578 single base substitution A G exon_variant COAD-US 2 7164578 7164578 single base substitution A G synonymous_variant E191E 573A>G COAD-US 2 7164578 7164578 single base substitution A G synonymous_variant E196E 588A>G COCA-CN 2 7057885 7057885 single base substitution G T intron_variant COCA-CN 2 7059707 7059707 single base substitution C T intron_variant COCA-CN 2 7110788 7110788 single base substitution G C intron_variant COCA-CN 2 7137067 7137067 single base substitution A G exon_variant COCA-CN 2 7137067 7137067 single base substitution A G intron_variant COCA-CN 2 7137067 7137067 single base substitution A G missense_variant T4A 10A>G COCA-CN 2 7137067 7137067 single base substitution A G upstream_gene_variant COCA-CN 2 7154696 7154696 single base substitution G A downstream_gene_variant COCA-CN 2 7154696 7154696 single base substitution G A intron_variant COCA-CN 2 7154696 7154696 single base substitution G A splice_region_variant COCA-CN 2 7160680 7160680 single base substitution G A exon_variant COCA-CN 2 7160680 7160680 single base substitution G A synonymous_variant G121G 363G>A COCA-CN 2 7160680 7160680 single base substitution G A synonymous_variant G126G 378G>A COCA-CN 2 7164483 7164483 single base substitution C T downstream_gene_variant COCA-CN 2 7164483 7164483 single base substitution C T intron_variant COCA-CN 2 7164638 7164638 single base substitution G T downstream_gene_variant COCA-CN 2 7164638 7164638 single base substitution G T exon_variant COCA-CN 2 7164638 7164638 single base substitution G T missense_variant E211D 633G>T COCA-CN 2 7164638 7164638 single base substitution G T missense_variant E216D 648G>T COCA-CN 2 7170191 7170191 single base substitution C T intron_variant COCA-CN 2 7208390 7208390 single base substitution C A missense_variant S259Y 776C>A EOPC-DE 2 7097276 7097276 single base substitution G A intron_variant ESAD-UK 2 7052767 7052767 single base substitution G T upstream_gene_variant ESAD-UK 2 7053483 7053483 single base substitution T C upstream_gene_variant ESAD-UK 2 7053549 7053549 single base substitution G T upstream_gene_variant ESAD-UK 2 7053767 7053767 single base substitution C A upstream_gene_variant ESAD-UK 2 7054096 7054096 single base substitution T G upstream_gene_variant ESAD-UK 2 7054981 7054981 single base substitution A T upstream_gene_variant ESAD-UK 2 7055244 7055244 single base substitution T C upstream_gene_variant ESAD-UK 2 7056802 7056802 single base substitution A G upstream_gene_variant ESAD-UK 2 7057153 7057153 single base substitution C T upstream_gene_variant ESAD-UK 2 7057795 7057795 single base substitution C A intron_variant ESAD-UK 2 7058189 7058189 single base substitution G A intron_variant ESAD-UK 2 7058584 7058584 insertion of <=200bp - TT intron_variant ESAD-UK 2 7059355 7059356 deletion of <=200bp AG - intron_variant ESAD-UK 2 7059624 7059624 single base substitution T C intron_variant ESAD-UK 2 7061939 7061939 single base substitution G T intron_variant ESAD-UK 2 7061940 7061940 single base substitution G T intron_variant ESAD-UK 2 7062123 7062123 single base substitution G A intron_variant ESAD-UK 2 7064862 7064862 single base substitution G C intron_variant ESAD-UK 2 7065186 7065186 single base substitution G C intron_variant ESAD-UK 2 7066540 7066540 single base substitution C T intron_variant ESAD-UK 2 7068178 7068178 single base substitution G C intron_variant ESAD-UK 2 7068178 7068178 single base substitution G C upstream_gene_variant ESAD-UK 2 7068445 7068445 single base substitution A C intron_variant ESAD-UK 2 7068445 7068445 single base substitution A C upstream_gene_variant ESAD-UK 2 7069742 7069742 single base substitution G C intron_variant ESAD-UK 2 7069742 7069742 single base substitution G C upstream_gene_variant ESAD-UK 2 7073455 7073455 single base substitution A C intron_variant ESAD-UK 2 7075057 7075057 single base substitution A C intron_variant ESAD-UK 2 7075057 7075057 single base substitution A G intron_variant ESAD-UK 2 7075203 7075203 single base substitution C A intron_variant ESAD-UK 2 7075831 7075831 single base substitution G T intron_variant ESAD-UK 2 7076784 7076784 single base substitution G A intron_variant ESAD-UK 2 7076882 7076882 single base substitution T C intron_variant ESAD-UK 2 7078030 7078030 single base substitution C T intron_variant ESAD-UK 2 7078152 7078152 single base substitution G C intron_variant ESAD-UK 2 7078817 7078817 single base substitution C A intron_variant ESAD-UK 2 7079725 7079725 single base substitution C G intron_variant ESAD-UK 2 7080409 7080409 single base substitution A G intron_variant ESAD-UK 2 7081718 7081718 single base substitution G A intron_variant ESAD-UK 2 7082020 7082020 single base substitution C T intron_variant ESAD-UK 2 7082071 7082071 single base substitution G T intron_variant ESAD-UK 2 7083919 7083919 single base substitution G T intron_variant ESAD-UK 2 7084141 7084141 single base substitution G A intron_variant ESAD-UK 2 7084216 7084216 single base substitution G A intron_variant ESAD-UK 2 7084549 7084549 single base substitution C A intron_variant ESAD-UK 2 7084933 7084933 single base substitution A T intron_variant ESAD-UK 2 7085520 7085520 single base substitution G A intron_variant ESAD-UK 2 7085662 7085662 single base substitution C T intron_variant ESAD-UK 2 7086027 7086027 single base substitution C T intron_variant ESAD-UK 2 7087418 7087418 single base substitution A C intron_variant ESAD-UK 2 7087923 7087923 single base substitution G A intron_variant ESAD-UK 2 7088068 7088068 single base substitution G A intron_variant ESAD-UK 2 7088708 7088708 single base substitution G A intron_variant ESAD-UK 2 7091287 7091287 single base substitution A G intron_variant ESAD-UK 2 7091732 7091732 single base substitution G A intron_variant ESAD-UK 2 7092085 7092085 single base substitution A C intron_variant ESAD-UK 2 7092106 7092106 single base substitution C T intron_variant ESAD-UK 2 7092347 7092347 single base substitution A G intron_variant ESAD-UK 2 7093373 7093373 single base substitution C T intron_variant ESAD-UK 2 7094041 7094041 single base substitution A C intron_variant ESAD-UK 2 7094235 7094235 single base substitution T G intron_variant ESAD-UK 2 7094280 7094280 single base substitution T G intron_variant ESAD-UK 2 7094444 7094444 single base substitution T C intron_variant ESAD-UK 2 7094835 7094835 insertion of <=200bp - G intron_variant ESAD-UK 2 7095059 7095059 single base substitution T A intron_variant ESAD-UK 2 7095062 7095062 single base substitution A T intron_variant ESAD-UK 2 7095527 7095527 single base substitution C A intron_variant ESAD-UK 2 7095635 7095635 single base substitution C T intron_variant ESAD-UK 2 7095722 7095722 single base substitution T C intron_variant ESAD-UK 2 7095928 7095928 single base substitution T G intron_variant ESAD-UK 2 7096043 7096043 single base substitution C T intron_variant ESAD-UK 2 7097537 7097537 deletion of <=200bp A - intron_variant ESAD-UK 2 7097746 7097746 single base substitution C A intron_variant ESAD-UK 2 7097940 7097940 single base substitution T G intron_variant ESAD-UK 2 7098266 7098266 single base substitution G A intron_variant ESAD-UK 2 7098494 7098494 single base substitution C T intron_variant ESAD-UK 2 7099204 7099204 single base substitution T A intron_variant ESAD-UK 2 7099260 7099260 single base substitution A C intron_variant ESAD-UK 2 7099676 7099676 single base substitution A G intron_variant ESAD-UK 2 7099921 7099921 deletion of <=200bp C - intron_variant ESAD-UK 2 7099928 7099928 single base substitution C A intron_variant ESAD-UK 2 7100858 7100858 single base substitution C A intron_variant ESAD-UK 2 7101180 7101180 single base substitution C A intron_variant ESAD-UK 2 7101204 7101204 single base substitution C A intron_variant ESAD-UK 2 7102936 7102936 single base substitution G A intron_variant ESAD-UK 2 7103106 7103106 single base substitution T C intron_variant ESAD-UK 2 7105112 7105112 deletion of <=200bp A - intron_variant ESAD-UK 2 7106035 7106035 single base substitution A C intron_variant ESAD-UK 2 7106035 7106035 single base substitution A G intron_variant ESAD-UK 2 7106495 7106495 single base substitution A G intron_variant ESAD-UK 2 7106908 7106908 single base substitution G A intron_variant ESAD-UK 2 7107070 7107070 single base substitution T C intron_variant ESAD-UK 2 7107304 7107304 single base substitution T G intron_variant ESAD-UK 2 7108776 7108776 single base substitution C T intron_variant ESAD-UK 2 7108804 7108804 single base substitution C T intron_variant ESAD-UK 2 7108952 7108952 single base substitution G A intron_variant ESAD-UK 2 7109086 7109086 single base substitution C G intron_variant ESAD-UK 2 7109532 7109532 single base substitution C T intron_variant ESAD-UK 2 7112734 7112734 single base substitution T G intron_variant ESAD-UK 2 7114030 7114030 single base substitution C T intron_variant ESAD-UK 2 7114030 7114030 single base substitution C T upstream_gene_variant ESAD-UK 2 7114213 7114213 single base substitution A G intron_variant ESAD-UK 2 7114213 7114213 single base substitution A G upstream_gene_variant ESAD-UK 2 7116373 7116373 single base substitution G A intron_variant ESAD-UK 2 7116373 7116373 single base substitution G A upstream_gene_variant ESAD-UK 2 7117911 7117911 single base substitution C T intron_variant ESAD-UK 2 7117911 7117911 single base substitution C T upstream_gene_variant ESAD-UK 2 7119873 7119873 single base substitution T G intron_variant ESAD-UK 2 7120032 7120032 single base substitution G A intron_variant ESAD-UK 2 7120107 7120107 single base substitution T C intron_variant ESAD-UK 2 7120228 7120228 single base substitution C T intron_variant ESAD-UK 2 7120435 7120435 single base substitution A G intron_variant ESAD-UK 2 7121363 7121363 single base substitution T C intron_variant ESAD-UK 2 7121560 7121560 single base substitution G C intron_variant ESAD-UK 2 7122133 7122133 single base substitution G A intron_variant ESAD-UK 2 7124210 7124210 single base substitution C T intron_variant ESAD-UK 2 7124442 7124442 single base substitution T C intron_variant ESAD-UK 2 7124946 7124946 single base substitution G A intron_variant ESAD-UK 2 7125176 7125176 single base substitution G T intron_variant ESAD-UK 2 7125851 7125851 single base substitution T C intron_variant ESAD-UK 2 7125864 7125864 single base substitution C T intron_variant ESAD-UK 2 7126839 7126839 single base substitution C A intron_variant ESAD-UK 2 7127028 7127028 single base substitution C T intron_variant ESAD-UK 2 7127186 7127186 single base substitution G A intron_variant ESAD-UK 2 7127360 7127360 single base substitution G A intron_variant ESAD-UK 2 7127386 7127386 single base substitution C T intron_variant ESAD-UK 2 7127861 7127861 single base substitution C T intron_variant ESAD-UK 2 7127896 7127896 single base substitution T C intron_variant ESAD-UK 2 7128157 7128157 single base substitution T C intron_variant ESAD-UK 2 7128296 7128296 single base substitution G A intron_variant ESAD-UK 2 7128379 7128379 single base substitution T G intron_variant ESAD-UK 2 7128642 7128642 single base substitution T C intron_variant ESAD-UK 2 7129060 7129060 insertion of <=200bp - T intron_variant ESAD-UK 2 7129984 7129984 single base substitution A G intron_variant ESAD-UK 2 7130004 7130004 deletion of <=200bp A - intron_variant ESAD-UK 2 7130679 7130679 single base substitution G T intron_variant ESAD-UK 2 7130846 7130846 single base substitution G C intron_variant ESAD-UK 2 7131042 7131042 single base substitution G C intron_variant ESAD-UK 2 7131083 7131083 single base substitution G C intron_variant ESAD-UK 2 7131426 7131426 single base substitution C G intron_variant ESAD-UK 2 7131883 7131884 deletion of <=200bp TC - intron_variant ESAD-UK 2 7131883 7131884 deletion of <=200bp TC - upstream_gene_variant ESAD-UK 2 7131980 7131980 single base substitution G T intron_variant ESAD-UK 2 7131980 7131980 single base substitution G T upstream_gene_variant ESAD-UK 2 7132060 7132060 single base substitution A C intron_variant ESAD-UK 2 7132060 7132060 single base substitution A C upstream_gene_variant ESAD-UK 2 7132074 7132074 single base substitution A C intron_variant ESAD-UK 2 7132074 7132074 single base substitution A C upstream_gene_variant ESAD-UK 2 7133180 7133180 single base substitution A C intron_variant ESAD-UK 2 7133180 7133180 single base substitution A C upstream_gene_variant ESAD-UK 2 7133270 7133270 deletion of <=200bp T - intron_variant ESAD-UK 2 7133270 7133270 deletion of <=200bp T - upstream_gene_variant ESAD-UK 2 7133991 7133991 single base substitution T G intron_variant ESAD-UK 2 7133991 7133991 single base substitution T G upstream_gene_variant ESAD-UK 2 7134908 7134908 single base substitution T C intron_variant ESAD-UK 2 7134908 7134908 single base substitution T C upstream_gene_variant ESAD-UK 2 7135004 7135004 single base substitution C T intron_variant ESAD-UK 2 7135004 7135004 single base substitution C T upstream_gene_variant ESAD-UK 2 7135320 7135320 single base substitution T C intron_variant ESAD-UK 2 7135320 7135320 single base substitution T C upstream_gene_variant ESAD-UK 2 7135320 7135320 single base substitution T G intron_variant ESAD-UK 2 7135320 7135320 single base substitution T G upstream_gene_variant ESAD-UK 2 7135471 7135471 deletion of <=200bp G - intron_variant ESAD-UK 2 7135471 7135471 deletion of <=200bp G - upstream_gene_variant ESAD-UK 2 7135541 7135541 single base substitution G A intron_variant ESAD-UK 2 7135541 7135541 single base substitution G A upstream_gene_variant ESAD-UK 2 7135683 7135683 single base substitution C A intron_variant ESAD-UK 2 7135683 7135683 single base substitution C A upstream_gene_variant ESAD-UK 2 7136800 7136800 single base substitution G T intron_variant ESAD-UK 2 7136800 7136800 single base substitution G T upstream_gene_variant ESAD-UK 2 7136928 7136928 single base substitution C T exon_variant ESAD-UK 2 7136928 7136928 single base substitution C T intron_variant ESAD-UK 2 7136928 7136928 single base substitution C T upstream_gene_variant ESAD-UK 2 7136953 7136953 single base substitution C T exon_variant ESAD-UK 2 7136953 7136953 single base substitution C T intron_variant ESAD-UK 2 7136953 7136953 single base substitution C T upstream_gene_variant ESAD-UK 2 7136996 7136996 single base substitution G T exon_variant ESAD-UK 2 7136996 7136996 single base substitution G T intron_variant ESAD-UK 2 7136996 7136996 single base substitution G T upstream_gene_variant ESAD-UK 2 7138745 7138745 single base substitution A C intron_variant ESAD-UK 2 7139632 7139632 deletion of <=200bp A - intron_variant ESAD-UK 2 7139983 7139983 single base substitution G T intron_variant ESAD-UK 2 7140372 7140372 single base substitution G A intron_variant ESAD-UK 2 7141829 7141829 single base substitution C T intron_variant ESAD-UK 2 7142713 7142713 single base substitution G A intron_variant ESAD-UK 2 7142899 7142899 insertion of <=200bp - A intron_variant ESAD-UK 2 7143454 7143454 single base substitution T C intron_variant ESAD-UK 2 7144507 7144507 single base substitution T A intron_variant ESAD-UK 2 7144576 7144576 single base substitution G A intron_variant ESAD-UK 2 7144964 7144964 single base substitution T G intron_variant ESAD-UK 2 7145455 7145455 single base substitution A G intron_variant ESAD-UK 2 7145667 7145667 single base substitution C A intron_variant ESAD-UK 2 7145778 7145778 single base substitution A T intron_variant ESAD-UK 2 7146719 7146719 single base substitution T A intron_variant ESAD-UK 2 7147868 7147868 single base substitution G A intron_variant ESAD-UK 2 7148167 7148167 single base substitution T C intron_variant ESAD-UK 2 7149765 7149765 single base substitution G C intron_variant ESAD-UK 2 7150074 7150074 single base substitution C T intron_variant ESAD-UK 2 7150780 7150780 single base substitution G A intron_variant ESAD-UK 2 7150892 7150892 single base substitution T C intron_variant ESAD-UK 2 7151165 7151165 single base substitution C T intron_variant ESAD-UK 2 7152135 7152135 single base substitution G C intron_variant ESAD-UK 2 7153912 7153912 single base substitution T C intron_variant ESAD-UK 2 7154271 7154271 single base substitution C T intron_variant ESAD-UK 2 7154780 7154780 single base substitution C T downstream_gene_variant ESAD-UK 2 7154780 7154780 single base substitution C T intron_variant ESAD-UK 2 7155141 7155141 single base substitution T G downstream_gene_variant ESAD-UK 2 7155141 7155141 single base substitution T G intron_variant ESAD-UK 2 7155901 7155901 single base substitution C T downstream_gene_variant ESAD-UK 2 7155901 7155901 single base substitution C T intron_variant ESAD-UK 2 7156382 7156382 single base substitution A T downstream_gene_variant ESAD-UK 2 7156382 7156382 single base substitution A T intron_variant ESAD-UK 2 7156628 7156628 single base substitution T G downstream_gene_variant ESAD-UK 2 7156628 7156628 single base substitution T G intron_variant ESAD-UK 2 7156780 7156780 single base substitution T C downstream_gene_variant ESAD-UK 2 7156780 7156780 single base substitution T C intron_variant ESAD-UK 2 7158398 7158398 single base substitution G A downstream_gene_variant ESAD-UK 2 7158398 7158398 single base substitution G A intron_variant ESAD-UK 2 7160212 7160212 single base substitution A T intron_variant ESAD-UK 2 7160637 7160637 single base substitution C T exon_variant ESAD-UK 2 7160637 7160637 single base substitution C T missense_variant P107L 320C>T ESAD-UK 2 7160637 7160637 single base substitution C T missense_variant P112L 335C>T ESAD-UK 2 7161046 7161046 single base substitution G C downstream_gene_variant ESAD-UK 2 7161046 7161046 single base substitution G C intron_variant ESAD-UK 2 7162170 7162170 single base substitution C A downstream_gene_variant ESAD-UK 2 7162170 7162170 single base substitution C A intron_variant ESAD-UK 2 7162735 7162735 single base substitution T C downstream_gene_variant ESAD-UK 2 7162735 7162735 single base substitution T C intron_variant ESAD-UK 2 7163406 7163406 single base substitution C T downstream_gene_variant ESAD-UK 2 7163406 7163406 single base substitution C T intron_variant ESAD-UK 2 7164647 7164647 single base substitution C T downstream_gene_variant ESAD-UK 2 7164647 7164647 single base substitution C T splice_region_variant ESAD-UK 2 7165438 7165438 single base substitution C T downstream_gene_variant ESAD-UK 2 7165438 7165438 single base substitution C T intron_variant ESAD-UK 2 7165710 7165710 single base substitution C T downstream_gene_variant ESAD-UK 2 7165710 7165710 single base substitution C T intron_variant ESAD-UK 2 7166082 7166082 single base substitution G A downstream_gene_variant ESAD-UK 2 7166082 7166082 single base substitution G A intron_variant ESAD-UK 2 7166526 7166526 single base substitution G C downstream_gene_variant ESAD-UK 2 7166526 7166526 single base substitution G C intron_variant ESAD-UK 2 7168243 7168243 single base substitution G A downstream_gene_variant ESAD-UK 2 7168243 7168243 single base substitution G A intron_variant ESAD-UK 2 7169183 7169183 single base substitution T G downstream_gene_variant ESAD-UK 2 7169183 7169183 single base substitution T G intron_variant ESAD-UK 2 7169641 7169641 single base substitution A G intron_variant ESAD-UK 2 7169948 7169948 single base substitution G A intron_variant ESAD-UK 2 7170667 7170667 single base substitution C A intron_variant ESAD-UK 2 7171838 7171838 single base substitution A C intron_variant ESAD-UK 2 7171963 7171963 single base substitution C A intron_variant ESAD-UK 2 7171963 7171963 single base substitution C G intron_variant ESAD-UK 2 7173585 7173585 single base substitution G A intron_variant ESAD-UK 2 7173645 7173645 single base substitution C G intron_variant ESAD-UK 2 7174029 7174029 single base substitution G C intron_variant ESAD-UK 2 7176118 7176118 single base substitution G T intron_variant ESAD-UK 2 7177811 7177811 single base substitution C T intron_variant ESAD-UK 2 7178235 7178235 single base substitution G T intron_variant ESAD-UK 2 7179922 7179922 single base substitution C G 3_prime_UTR_variant ESAD-UK 2 7179922 7179922 single base substitution C G downstream_gene_variant ESAD-UK 2 7179922 7179922 single base substitution C G intron_variant ESAD-UK 2 7181155 7181155 single base substitution A G 3_prime_UTR_variant ESAD-UK 2 7181155 7181155 single base substitution A G downstream_gene_variant ESAD-UK 2 7181155 7181155 single base substitution A G intron_variant ESAD-UK 2 7181289 7181289 single base substitution T A 3_prime_UTR_variant ESAD-UK 2 7181289 7181289 single base substitution T A downstream_gene_variant ESAD-UK 2 7181289 7181289 single base substitution T A intron_variant ESAD-UK 2 7181867 7181867 single base substitution C T 3_prime_UTR_variant ESAD-UK 2 7181867 7181867 single base substitution C T downstream_gene_variant ESAD-UK 2 7181867 7181867 single base substitution C T intron_variant ESAD-UK 2 7182613 7182613 single base substitution C T 3_prime_UTR_variant ESAD-UK 2 7182613 7182613 single base substitution C T downstream_gene_variant ESAD-UK 2 7182613 7182613 single base substitution C T intron_variant ESAD-UK 2 7183590 7183590 single base substitution C T 3_prime_UTR_variant ESAD-UK 2 7183590 7183590 single base substitution C T downstream_gene_variant ESAD-UK 2 7183590 7183590 single base substitution C T intron_variant ESAD-UK 2 7184115 7184115 single base substitution A T 3_prime_UTR_variant ESAD-UK 2 7184115 7184115 single base substitution A T downstream_gene_variant ESAD-UK 2 7184115 7184115 single base substitution A T intron_variant ESAD-UK 2 7184317 7184317 single base substitution G A downstream_gene_variant ESAD-UK 2 7184317 7184317 single base substitution G A intron_variant ESAD-UK 2 7184599 7184599 single base substitution T C downstream_gene_variant ESAD-UK 2 7184599 7184599 single base substitution T C intron_variant ESAD-UK 2 7184776 7184776 single base substitution G T downstream_gene_variant ESAD-UK 2 7184776 7184776 single base substitution G T intron_variant ESAD-UK 2 7185786 7185786 single base substitution A G downstream_gene_variant ESAD-UK 2 7185786 7185786 single base substitution A G intron_variant ESAD-UK 2 7186053 7186053 deletion of <=200bp A - downstream_gene_variant ESAD-UK 2 7186053 7186053 deletion of <=200bp A - intron_variant ESAD-UK 2 7189229 7189229 single base substitution A C downstream_gene_variant ESAD-UK 2 7189229 7189229 single base substitution A C intron_variant ESAD-UK 2 7190620 7190620 single base substitution A T intron_variant ESAD-UK 2 7190957 7190957 single base substitution G C intron_variant ESAD-UK 2 7192217 7192217 single base substitution G A intron_variant ESAD-UK 2 7192322 7192322 single base substitution A G intron_variant ESAD-UK 2 7193156 7193156 single base substitution A C intron_variant ESAD-UK 2 7193526 7193526 single base substitution A G intron_variant ESAD-UK 2 7193547 7193547 single base substitution C T intron_variant ESAD-UK 2 7193672 7193672 single base substitution T A intron_variant ESAD-UK 2 7193739 7193739 single base substitution T G intron_variant ESAD-UK 2 7194668 7194668 single base substitution C T intron_variant ESAD-UK 2 7196308 7196308 single base substitution A C intron_variant ESAD-UK 2 7196679 7196679 single base substitution G A intron_variant ESAD-UK 2 7197254 7197254 single base substitution T G intron_variant ESAD-UK 2 7197271 7197271 single base substitution T C intron_variant ESAD-UK 2 7197751 7197751 single base substitution C A intron_variant ESAD-UK 2 7198153 7198153 single base substitution G A intron_variant ESAD-UK 2 7198356 7198356 single base substitution G T intron_variant ESAD-UK 2 7198409 7198409 single base substitution C T intron_variant ESAD-UK 2 7198668 7198668 single base substitution C A intron_variant ESAD-UK 2 7199939 7199939 single base substitution G T intron_variant ESAD-UK 2 7200394 7200394 single base substitution G T intron_variant ESAD-UK 2 7200663 7200663 single base substitution T G intron_variant ESAD-UK 2 7200737 7200737 single base substitution C A intron_variant ESAD-UK 2 7200738 7200738 single base substitution A T intron_variant ESAD-UK 2 7201322 7201322 single base substitution C T intron_variant ESAD-UK 2 7201536 7201536 single base substitution T G intron_variant ESAD-UK 2 7201923 7201923 single base substitution G T intron_variant ESAD-UK 2 7202541 7202541 single base substitution T G intron_variant ESAD-UK 2 7202939 7202939 single base substitution T G intron_variant ESAD-UK 2 7203571 7203571 single base substitution C G intron_variant ESAD-UK 2 7204131 7204131 single base substitution G T intron_variant ESAD-UK 2 7204595 7204595 single base substitution A C intron_variant ESAD-UK 2 7205122 7205122 single base substitution T A intron_variant ESAD-UK 2 7205428 7205428 single base substitution C A intron_variant ESAD-UK 2 7205584 7205584 single base substitution T G intron_variant ESAD-UK 2 7205909 7205909 single base substitution C G intron_variant ESAD-UK 2 7207121 7207121 single base substitution G T intron_variant ESAD-UK 2 7207293 7207293 single base substitution T C intron_variant ESAD-UK 2 7207767 7207767 single base substitution A T intron_variant ESAD-UK 2 7208060 7208060 single base substitution C A intron_variant ESAD-UK 2 7209034 7209034 single base substitution C A downstream_gene_variant ESAD-UK 2 7210242 7210242 single base substitution A C downstream_gene_variant ESAD-UK 2 7210471 7210471 single base substitution T C downstream_gene_variant ESAD-UK 2 7210652 7210652 single base substitution A C downstream_gene_variant ESAD-UK 2 7210903 7210903 single base substitution A C downstream_gene_variant ESAD-UK 2 7210903 7210903 single base substitution A G downstream_gene_variant ESAD-UK 2 7210930 7210930 single base substitution A C downstream_gene_variant ESAD-UK 2 7212732 7212732 single base substitution T A downstream_gene_variant ESAD-UK 2 7212752 7212752 single base substitution A T downstream_gene_variant ESAD-UK 2 7212753 7212753 single base substitution G A downstream_gene_variant ESAD-UK 2 7213255 7213255 single base substitution G A downstream_gene_variant ESCA-CN 2 7154590 7154590 single base substitution G A exon_variant ESCA-CN 2 7154590 7154590 single base substitution G A intron_variant ESCA-CN 2 7154590 7154590 single base substitution G A synonymous_variant L42L 126G>A ESCA-CN 2 7154590 7154590 single base substitution G A synonymous_variant L47L 141G>A GBM-US 2 7154885 7154885 single base substitution A G downstream_gene_variant GBM-US 2 7154885 7154885 single base substitution A G exon_variant GBM-US 2 7154885 7154885 single base substitution A G intron_variant GBM-US 2 7154885 7154885 single base substitution A G missense_variant K90E 268A>G GBM-US 2 7154885 7154885 single base substitution A G missense_variant K95E 283A>G KIRC-US 2 7160712 7160712 single base substitution C A downstream_gene_variant KIRC-US 2 7160712 7160712 single base substitution C A exon_variant KIRC-US 2 7160712 7160712 single base substitution C A missense_variant A132D 395C>A KIRC-US 2 7160712 7160712 single base substitution C A missense_variant A137D 410C>A KIRC-US 2 7164573 7164573 single base substitution G C downstream_gene_variant KIRC-US 2 7164573 7164573 single base substitution G C exon_variant KIRC-US 2 7164573 7164573 single base substitution G C missense_variant D190H 568G>C KIRC-US 2 7164573 7164573 single base substitution G C missense_variant D195H 583G>C LAML-KR 2 7075765 7075765 single base substitution A G intron_variant LAML-KR 2 7179193 7179193 single base substitution T G intron_variant LGG-US 2 7164513 7164513 single base substitution A G downstream_gene_variant LGG-US 2 7164513 7164513 single base substitution A G exon_variant LGG-US 2 7164513 7164513 single base substitution A G missense_variant M170V 508A>G LGG-US 2 7164513 7164513 single base substitution A G missense_variant M175V 523A>G LICA-CN 2 7164635 7164635 single base substitution G C downstream_gene_variant LICA-CN 2 7164635 7164635 single base substitution G C exon_variant LICA-CN 2 7164635 7164635 single base substitution G C synonymous_variant L210L 630G>C LICA-CN 2 7164635 7164635 single base substitution G C synonymous_variant L215L 645G>C LICA-FR 2 7070210 7070210 single base substitution A G intron_variant LICA-FR 2 7070210 7070210 single base substitution A G upstream_gene_variant LICA-FR 2 7088869 7088869 single base substitution A T intron_variant LICA-FR 2 7126674 7126676 deletion of <=200bp GAC - intron_variant LICA-FR 2 7136367 7136367 single base substitution C T intron_variant LICA-FR 2 7136367 7136367 single base substitution C T upstream_gene_variant LICA-FR 2 7138824 7138824 single base substitution T C intron_variant LICA-FR 2 7147858 7147858 single base substitution C G intron_variant LICA-FR 2 7157208 7157208 single base substitution G A downstream_gene_variant LICA-FR 2 7157208 7157208 single base substitution G A intron_variant LICA-FR 2 7170438 7170438 single base substitution A G intron_variant LICA-FR 2 7189491 7189491 single base substitution G T intron_variant LICA-FR 2 7198470 7198471 deletion of <=200bp AA - intron_variant LICA-FR 2 7206497 7206497 single base substitution C T intron_variant LINC-JP 2 7064396 7064396 single base substitution A G intron_variant LINC-JP 2 7064463 7064463 deletion of <=200bp A - intron_variant LINC-JP 2 7073282 7073282 single base substitution A G 5_prime_UTR_variant LINC-JP 2 7073282 7073282 single base substitution A G exon_variant LINC-JP 2 7073282 7073282 single base substitution A G intron_variant LINC-JP 2 7076371 7076371 single base substitution C T intron_variant LINC-JP 2 7078982 7078982 single base substitution C T intron_variant LINC-JP 2 7128667 7128667 single base substitution G A intron_variant LINC-JP 2 7129673 7129673 single base substitution G A intron_variant LINC-JP 2 7133426 7133426 single base substitution G A intron_variant LINC-JP 2 7133426 7133426 single base substitution G A upstream_gene_variant LINC-JP 2 7139338 7139338 single base substitution A G intron_variant LINC-JP 2 7170426 7170426 single base substitution G A intron_variant LINC-JP 2 7182131 7182131 single base substitution G T 3_prime_UTR_variant LINC-JP 2 7182131 7182131 single base substitution G T downstream_gene_variant LINC-JP 2 7182131 7182131 single base substitution G T intron_variant LINC-JP 2 7188034 7188034 single base substitution T G downstream_gene_variant LINC-JP 2 7188034 7188034 single base substitution T G intron_variant LINC-JP 2 7210288 7210288 insertion of <=200bp - TCTC downstream_gene_variant LINC-JP 2 7212138 7212138 single base substitution C A downstream_gene_variant LINC-JP 2 7213140 7213140 single base substitution C T downstream_gene_variant LIRI-JP 2 7054208 7054208 single base substitution A G upstream_gene_variant LIRI-JP 2 7057071 7057071 single base substitution T A upstream_gene_variant LIRI-JP 2 7058956 7058956 deletion of <=200bp G - intron_variant LIRI-JP 2 7059478 7059478 single base substitution C T intron_variant LIRI-JP 2 7060818 7060818 single base substitution A G intron_variant LIRI-JP 2 7067398 7067398 single base substitution T A intron_variant LIRI-JP 2 7069103 7069103 single base substitution T A intron_variant LIRI-JP 2 7069103 7069103 single base substitution T A upstream_gene_variant LIRI-JP 2 7069729 7069729 single base substitution A G intron_variant LIRI-JP 2 7069729 7069729 single base substitution A G upstream_gene_variant LIRI-JP 2 7069932 7069932 single base substitution A T intron_variant LIRI-JP 2 7069932 7069932 single base substitution A T upstream_gene_variant LIRI-JP 2 7070237 7070237 single base substitution A G intron_variant LIRI-JP 2 7070237 7070237 single base substitution A G upstream_gene_variant LIRI-JP 2 7070698 7070698 single base substitution A C intron_variant LIRI-JP 2 7070698 7070698 single base substitution A C upstream_gene_variant LIRI-JP 2 7072354 7072354 single base substitution A G intron_variant LIRI-JP 2 7072354 7072354 single base substitution A G upstream_gene_variant LIRI-JP 2 7074234 7074234 single base substitution A G intron_variant LIRI-JP 2 7074880 7074880 single base substitution A G intron_variant LIRI-JP 2 7074985 7074985 single base substitution G T intron_variant LIRI-JP 2 7075282 7075282 single base substitution G C intron_variant LIRI-JP 2 7081346 7081346 single base substitution C T intron_variant LIRI-JP 2 7081828 7081828 single base substitution G A intron_variant LIRI-JP 2 7083235 7083235 single base substitution G A intron_variant LIRI-JP 2 7084332 7084332 single base substitution C G intron_variant LIRI-JP 2 7085997 7085997 single base substitution G C intron_variant LIRI-JP 2 7086043 7086043 single base substitution G T intron_variant LIRI-JP 2 7087311 7087311 single base substitution C G intron_variant LIRI-JP 2 7092849 7092849 single base substitution A T intron_variant LIRI-JP 2 7093965 7093965 single base substitution A G intron_variant LIRI-JP 2 7095063 7095063 single base substitution T A intron_variant LIRI-JP 2 7095889 7095889 single base substitution A T intron_variant LIRI-JP 2 7096006 7096006 single base substitution C A intron_variant LIRI-JP 2 7098553 7098553 single base substitution C G intron_variant LIRI-JP 2 7100434 7100434 single base substitution A T intron_variant LIRI-JP 2 7100895 7100895 single base substitution T A intron_variant LIRI-JP 2 7101284 7101284 single base substitution G A intron_variant LIRI-JP 2 7102478 7102478 single base substitution G A intron_variant LIRI-JP 2 7103921 7103921 single base substitution C T intron_variant LIRI-JP 2 7105417 7105417 single base substitution G A intron_variant LIRI-JP 2 7107429 7107429 single base substitution C G intron_variant LIRI-JP 2 7107568 7107568 single base substitution C T intron_variant LIRI-JP 2 7108119 7108119 single base substitution G T intron_variant LIRI-JP 2 7108281 7108281 insertion of <=200bp - C intron_variant LIRI-JP 2 7109510 7109510 single base substitution G T intron_variant LIRI-JP 2 7110034 7110034 single base substitution A C intron_variant LIRI-JP 2 7110229 7110229 single base substitution A G intron_variant LIRI-JP 2 7112143 7112143 single base substitution C G intron_variant LIRI-JP 2 7112244 7112244 single base substitution T C intron_variant LIRI-JP 2 7113333 7113333 single base substitution G A intron_variant LIRI-JP 2 7119650 7119650 single base substitution A G intron_variant LIRI-JP 2 7119947 7119947 single base substitution T C intron_variant LIRI-JP 2 7119967 7119967 single base substitution A G intron_variant LIRI-JP 2 7122179 7122179 single base substitution C T intron_variant LIRI-JP 2 7122796 7122796 single base substitution A T intron_variant LIRI-JP 2 7122805 7122805 single base substitution A G intron_variant LIRI-JP 2 7124857 7124857 single base substitution G A intron_variant LIRI-JP 2 7126282 7126282 single base substitution C A intron_variant LIRI-JP 2 7126403 7126403 single base substitution G A intron_variant LIRI-JP 2 7127445 7127445 single base substitution C A intron_variant LIRI-JP 2 7133741 7133741 single base substitution G A intron_variant LIRI-JP 2 7133741 7133741 single base substitution G A upstream_gene_variant LIRI-JP 2 7134666 7134666 single base substitution A G intron_variant LIRI-JP 2 7134666 7134666 single base substitution A G upstream_gene_variant LIRI-JP 2 7135008 7135008 single base substitution C T intron_variant LIRI-JP 2 7135008 7135008 single base substitution C T upstream_gene_variant LIRI-JP 2 7135704 7135704 single base substitution G A intron_variant LIRI-JP 2 7135704 7135704 single base substitution G A upstream_gene_variant LIRI-JP 2 7137016 7137016 single base substitution G A exon_variant LIRI-JP 2 7137016 7137016 single base substitution G A intron_variant LIRI-JP 2 7137016 7137016 single base substitution G A upstream_gene_variant LIRI-JP 2 7137626 7137626 single base substitution A T intron_variant LIRI-JP 2 7138469 7138469 single base substitution A G intron_variant LIRI-JP 2 7138514 7138514 single base substitution A C intron_variant LIRI-JP 2 7138934 7138934 single base substitution A G intron_variant LIRI-JP 2 7141079 7141079 single base substitution C A intron_variant LIRI-JP 2 7142415 7142415 single base substitution C T intron_variant LIRI-JP 2 7143611 7143611 single base substitution A G intron_variant LIRI-JP 2 7145096 7145096 single base substitution G A intron_variant LIRI-JP 2 7145208 7145208 single base substitution G A intron_variant LIRI-JP 2 7147516 7147516 single base substitution A G intron_variant LIRI-JP 2 7147576 7147576 single base substitution T A intron_variant LIRI-JP 2 7149939 7149939 single base substitution T C intron_variant LIRI-JP 2 7150670 7150670 single base substitution G A intron_variant LIRI-JP 2 7151164 7151164 single base substitution A G intron_variant LIRI-JP 2 7151454 7151454 single base substitution A G intron_variant LIRI-JP 2 7151735 7151735 single base substitution T C intron_variant LIRI-JP 2 7153081 7153081 single base substitution C T intron_variant LIRI-JP 2 7154289 7154289 single base substitution T A intron_variant LIRI-JP 2 7155155 7155155 single base substitution G A downstream_gene_variant LIRI-JP 2 7155155 7155155 single base substitution G A intron_variant LIRI-JP 2 7155680 7155680 single base substitution A G downstream_gene_variant LIRI-JP 2 7155680 7155680 single base substitution A G intron_variant LIRI-JP 2 7155864 7155864 single base substitution G A downstream_gene_variant LIRI-JP 2 7155864 7155864 single base substitution G A intron_variant LIRI-JP 2 7155943 7155943 single base substitution C G downstream_gene_variant LIRI-JP 2 7155943 7155943 single base substitution C G intron_variant LIRI-JP 2 7156662 7156662 single base substitution A G downstream_gene_variant LIRI-JP 2 7156662 7156662 single base substitution A G intron_variant LIRI-JP 2 7158828 7158828 single base substitution T C downstream_gene_variant LIRI-JP 2 7158828 7158828 single base substitution T C intron_variant LIRI-JP 2 7158884 7158884 single base substitution T C downstream_gene_variant LIRI-JP 2 7158884 7158884 single base substitution T C intron_variant LIRI-JP 2 7159128 7159128 single base substitution A G downstream_gene_variant LIRI-JP 2 7159128 7159128 single base substitution A G intron_variant LIRI-JP 2 7162899 7162899 single base substitution G T downstream_gene_variant LIRI-JP 2 7162899 7162899 single base substitution G T intron_variant LIRI-JP 2 7163434 7163434 single base substitution G A downstream_gene_variant LIRI-JP 2 7163434 7163434 single base substitution G A intron_variant LIRI-JP 2 7164691 7164691 single base substitution G T downstream_gene_variant LIRI-JP 2 7164691 7164691 single base substitution G T intron_variant LIRI-JP 2 7166384 7166384 single base substitution A C downstream_gene_variant LIRI-JP 2 7166384 7166384 single base substitution A C intron_variant LIRI-JP 2 7167519 7167519 single base substitution G A downstream_gene_variant LIRI-JP 2 7167519 7167519 single base substitution G A intron_variant LIRI-JP 2 7170084 7170084 single base substitution G T intron_variant LIRI-JP 2 7171506 7171506 single base substitution A G intron_variant LIRI-JP 2 7173951 7173951 single base substitution C T intron_variant LIRI-JP 2 7174123 7174123 single base substitution G C intron_variant LIRI-JP 2 7181306 7181306 single base substitution A G 3_prime_UTR_variant LIRI-JP 2 7181306 7181306 single base substitution A G downstream_gene_variant LIRI-JP 2 7181306 7181306 single base substitution A G intron_variant LIRI-JP 2 7181739 7181739 single base substitution C T 3_prime_UTR_variant LIRI-JP 2 7181739 7181739 single base substitution C T downstream_gene_variant LIRI-JP 2 7181739 7181739 single base substitution C T intron_variant LIRI-JP 2 7183232 7183232 single base substitution C T 3_prime_UTR_variant LIRI-JP 2 7183232 7183232 single base substitution C T downstream_gene_variant LIRI-JP 2 7183232 7183232 single base substitution C T intron_variant LIRI-JP 2 7183531 7183531 single base substitution A G 3_prime_UTR_variant LIRI-JP 2 7183531 7183531 single base substitution A G downstream_gene_variant LIRI-JP 2 7183531 7183531 single base substitution A G intron_variant LIRI-JP 2 7185076 7185076 single base substitution C T downstream_gene_variant LIRI-JP 2 7185076 7185076 single base substitution C T intron_variant LIRI-JP 2 7185854 7185854 single base substitution G A downstream_gene_variant LIRI-JP 2 7185854 7185854 single base substitution G A intron_variant LIRI-JP 2 7186166 7186166 single base substitution C A downstream_gene_variant LIRI-JP 2 7186166 7186166 single base substitution C A intron_variant LIRI-JP 2 7186328 7186328 single base substitution A G downstream_gene_variant LIRI-JP 2 7186328 7186328 single base substitution A G intron_variant LIRI-JP 2 7186775 7186775 single base substitution A G downstream_gene_variant LIRI-JP 2 7186775 7186775 single base substitution A G intron_variant LIRI-JP 2 7188574 7188574 single base substitution A G downstream_gene_variant LIRI-JP 2 7188574 7188574 single base substitution A G intron_variant LIRI-JP 2 7188742 7188742 single base substitution A T downstream_gene_variant LIRI-JP 2 7188742 7188742 single base substitution A T intron_variant LIRI-JP 2 7189199 7189199 single base substitution A G downstream_gene_variant LIRI-JP 2 7189199 7189199 single base substitution A G intron_variant LIRI-JP 2 7189935 7189935 single base substitution A C intron_variant LIRI-JP 2 7190591 7190591 single base substitution T G intron_variant LIRI-JP 2 7192380 7192380 single base substitution C T intron_variant LIRI-JP 2 7193387 7193387 single base substitution G A intron_variant LIRI-JP 2 7194880 7194880 single base substitution A C intron_variant LIRI-JP 2 7197242 7197242 single base substitution A T intron_variant LIRI-JP 2 7198249 7198249 single base substitution G A intron_variant LIRI-JP 2 7199504 7199504 single base substitution T A intron_variant LIRI-JP 2 7200284 7200284 single base substitution T G intron_variant LIRI-JP 2 7201287 7201287 single base substitution G A intron_variant LIRI-JP 2 7201705 7201705 deletion of <=200bp G - intron_variant LIRI-JP 2 7203203 7203203 single base substitution A T intron_variant LIRI-JP 2 7203613 7203613 single base substitution G C intron_variant LIRI-JP 2 7207602 7207602 single base substitution G T intron_variant LIRI-JP 2 7207922 7207922 single base substitution T C intron_variant LIRI-JP 2 7208445 7208445 single base substitution A T downstream_gene_variant LIRI-JP 2 7209118 7209118 single base substitution A T downstream_gene_variant LUSC-KR 2 7053261 7053261 single base substitution C A upstream_gene_variant LUSC-KR 2 7057255 7057255 single base substitution C G upstream_gene_variant LUSC-KR 2 7060079 7060079 single base substitution A T intron_variant LUSC-KR 2 7062654 7062654 single base substitution G T intron_variant LUSC-KR 2 7066839 7066839 single base substitution G T intron_variant LUSC-KR 2 7070190 7070190 single base substitution G A intron_variant LUSC-KR 2 7070190 7070190 single base substitution G A upstream_gene_variant LUSC-KR 2 7080005 7080005 single base substitution G T intron_variant LUSC-KR 2 7082047 7082047 single base substitution G T intron_variant LUSC-KR 2 7084596 7084596 single base substitution T C intron_variant LUSC-KR 2 7085451 7085451 single base substitution C T intron_variant LUSC-KR 2 7088408 7088408 single base substitution G A intron_variant LUSC-KR 2 7088434 7088434 single base substitution T G intron_variant LUSC-KR 2 7089950 7089950 single base substitution G T intron_variant LUSC-KR 2 7089971 7089971 single base substitution A T intron_variant LUSC-KR 2 7090308 7090308 single base substitution G A intron_variant LUSC-KR 2 7090327 7090327 single base substitution C T intron_variant LUSC-KR 2 7090723 7090723 single base substitution T A intron_variant LUSC-KR 2 7091214 7091214 single base substitution G T intron_variant LUSC-KR 2 7091960 7091960 single base substitution C T intron_variant LUSC-KR 2 7092264 7092264 single base substitution C G intron_variant LUSC-KR 2 7093632 7093632 single base substitution G A intron_variant LUSC-KR 2 7095098 7095098 single base substitution A C intron_variant LUSC-KR 2 7096918 7096918 single base substitution C T intron_variant LUSC-KR 2 7098834 7098834 single base substitution G C intron_variant LUSC-KR 2 7099587 7099587 single base substitution C G intron_variant LUSC-KR 2 7102095 7102095 single base substitution T C intron_variant LUSC-KR 2 7104519 7104519 single base substitution C T intron_variant LUSC-KR 2 7105494 7105494 single base substitution G T intron_variant LUSC-KR 2 7106600 7106600 single base substitution A T intron_variant LUSC-KR 2 7107221 7107221 single base substitution G T intron_variant LUSC-KR 2 7107579 7107579 single base substitution A T intron_variant LUSC-KR 2 7108479 7108479 single base substitution G T intron_variant LUSC-KR 2 7113546 7113546 single base substitution G T intron_variant LUSC-KR 2 7114149 7114149 single base substitution T C intron_variant LUSC-KR 2 7114149 7114149 single base substitution T C upstream_gene_variant LUSC-KR 2 7117197 7117197 single base substitution G T intron_variant LUSC-KR 2 7117197 7117197 single base substitution G T upstream_gene_variant LUSC-KR 2 7121173 7121173 single base substitution G A intron_variant LUSC-KR 2 7124583 7124583 single base substitution G A intron_variant LUSC-KR 2 7124887 7124887 single base substitution G A intron_variant LUSC-KR 2 7126559 7126559 single base substitution C T intron_variant LUSC-KR 2 7128782 7128782 single base substitution G T intron_variant LUSC-KR 2 7131059 7131059 single base substitution G T intron_variant LUSC-KR 2 7131546 7131546 single base substitution A T intron_variant LUSC-KR 2 7132958 7132958 single base substitution C G intron_variant LUSC-KR 2 7132958 7132958 single base substitution C G upstream_gene_variant LUSC-KR 2 7133045 7133045 single base substitution G T intron_variant LUSC-KR 2 7133045 7133045 single base substitution G T upstream_gene_variant LUSC-KR 2 7133634 7133634 single base substitution C G intron_variant LUSC-KR 2 7133634 7133634 single base substitution C G upstream_gene_variant LUSC-KR 2 7136125 7136125 single base substitution G T intron_variant LUSC-KR 2 7136125 7136125 single base substitution G T upstream_gene_variant LUSC-KR 2 7138139 7138139 single base substitution A G intron_variant LUSC-KR 2 7139498 7139498 single base substitution G T intron_variant LUSC-KR 2 7141689 7141689 single base substitution C T intron_variant LUSC-KR 2 7144718 7144718 single base substitution G A intron_variant LUSC-KR 2 7145153 7145153 single base substitution G T intron_variant LUSC-KR 2 7148220 7148220 single base substitution G T intron_variant LUSC-KR 2 7151724 7151724 single base substitution T C intron_variant LUSC-KR 2 7157402 7157402 single base substitution G T downstream_gene_variant LUSC-KR 2 7157402 7157402 single base substitution G T intron_variant LUSC-KR 2 7157476 7157476 single base substitution C G downstream_gene_variant LUSC-KR 2 7157476 7157476 single base substitution C G intron_variant LUSC-KR 2 7159007 7159007 single base substitution G C downstream_gene_variant LUSC-KR 2 7159007 7159007 single base substitution G C intron_variant LUSC-KR 2 7160679 7160679 single base substitution G C exon_variant LUSC-KR 2 7160679 7160679 single base substitution G C missense_variant G121A 362G>C LUSC-KR 2 7160679 7160679 single base substitution G C missense_variant G126A 377G>C LUSC-KR 2 7162247 7162247 single base substitution G A downstream_gene_variant LUSC-KR 2 7162247 7162247 single base substitution G A intron_variant LUSC-KR 2 7164155 7164155 single base substitution A G downstream_gene_variant LUSC-KR 2 7164155 7164155 single base substitution A G intron_variant LUSC-KR 2 7164578 7164578 single base substitution A G downstream_gene_variant LUSC-KR 2 7164578 7164578 single base substitution A G exon_variant LUSC-KR 2 7164578 7164578 single base substitution A G synonymous_variant E191E 573A>G LUSC-KR 2 7164578 7164578 single base substitution A G synonymous_variant E196E 588A>G LUSC-KR 2 7165691 7165691 single base substitution T A downstream_gene_variant LUSC-KR 2 7165691 7165691 single base substitution T A intron_variant LUSC-KR 2 7169054 7169054 single base substitution G A downstream_gene_variant LUSC-KR 2 7169054 7169054 single base substitution G A intron_variant LUSC-KR 2 7170406 7170406 single base substitution G T intron_variant LUSC-KR 2 7170414 7170414 single base substitution G T intron_variant LUSC-KR 2 7170424 7170424 single base substitution G A intron_variant LUSC-KR 2 7170426 7170426 single base substitution G A intron_variant LUSC-KR 2 7171486 7171486 single base substitution C T intron_variant LUSC-KR 2 7173872 7173872 single base substitution C T intron_variant LUSC-KR 2 7176808 7176808 single base substitution G A intron_variant LUSC-KR 2 7179420 7179420 single base substitution G C intron_variant LUSC-KR 2 7181560 7181560 single base substitution G A 3_prime_UTR_variant LUSC-KR 2 7181560 7181560 single base substitution G A downstream_gene_variant LUSC-KR 2 7181560 7181560 single base substitution G A intron_variant LUSC-KR 2 7183232 7183232 single base substitution C T 3_prime_UTR_variant LUSC-KR 2 7183232 7183232 single base substitution C T downstream_gene_variant LUSC-KR 2 7183232 7183232 single base substitution C T intron_variant LUSC-KR 2 7183902 7183902 single base substitution G T 3_prime_UTR_variant LUSC-KR 2 7183902 7183902 single base substitution G T downstream_gene_variant LUSC-KR 2 7183902 7183902 single base substitution G T intron_variant LUSC-KR 2 7185931 7185931 single base substitution G T downstream_gene_variant LUSC-KR 2 7185931 7185931 single base substitution G T intron_variant LUSC-KR 2 7186016 7186016 single base substitution C A downstream_gene_variant LUSC-KR 2 7186016 7186016 single base substitution C A intron_variant LUSC-KR 2 7188155 7188155 single base substitution G T downstream_gene_variant LUSC-KR 2 7188155 7188155 single base substitution G T intron_variant LUSC-KR 2 7188654 7188654 single base substitution G T downstream_gene_variant LUSC-KR 2 7188654 7188654 single base substitution G T intron_variant LUSC-KR 2 7191327 7191327 single base substitution G T intron_variant LUSC-KR 2 7191389 7191389 single base substitution A C intron_variant LUSC-KR 2 7197775 7197775 single base substitution G T intron_variant LUSC-KR 2 7198870 7198870 single base substitution G A intron_variant LUSC-KR 2 7201439 7201439 single base substitution G A intron_variant LUSC-KR 2 7202541 7202541 single base substitution T A intron_variant LUSC-KR 2 7203781 7203781 single base substitution A G intron_variant LUSC-KR 2 7204044 7204044 single base substitution A T intron_variant LUSC-KR 2 7205889 7205889 single base substitution T G intron_variant LUSC-KR 2 7207190 7207190 single base substitution G C intron_variant LUSC-KR 2 7208207 7208207 single base substitution C T intron_variant LUSC-KR 2 7209902 7209902 single base substitution G T downstream_gene_variant LUSC-KR 2 7211421 7211421 single base substitution G A downstream_gene_variant LUSC-KR 2 7211675 7211675 single base substitution C G downstream_gene_variant LUSC-US 2 7137071 7137071 single base substitution G C 5_prime_UTR_variant LUSC-US 2 7137071 7137071 single base substitution G C exon_variant LUSC-US 2 7137071 7137071 single base substitution G C intron_variant LUSC-US 2 7137071 7137071 single base substitution G C missense_variant R5T 14G>C LUSC-US 2 7137104 7137104 single base substitution C T exon_variant LUSC-US 2 7137104 7137104 single base substitution C T intron_variant LUSC-US 2 7137104 7137104 single base substitution C T missense_variant P11L 32C>T LUSC-US 2 7137104 7137104 single base substitution C T missense_variant P16L 47C>T LUSC-US 2 7137169 7137169 single base substitution T C exon_variant LUSC-US 2 7137169 7137169 single base substitution T C intron_variant LUSC-US 2 7137169 7137169 single base substitution T C missense_variant C33R 97T>C LUSC-US 2 7137169 7137169 single base substitution T C missense_variant C38R 112T>C LUSC-US 2 7154603 7154603 single base substitution G A exon_variant LUSC-US 2 7154603 7154603 single base substitution G A intron_variant LUSC-US 2 7154603 7154603 single base substitution G A missense_variant E47K 139G>A LUSC-US 2 7154603 7154603 single base substitution G A missense_variant E52K 154G>A LUSC-US 2 7154628 7154628 single base substitution A T downstream_gene_variant LUSC-US 2 7154628 7154628 single base substitution A T exon_variant LUSC-US 2 7154628 7154628 single base substitution A T intron_variant LUSC-US 2 7154628 7154628 single base substitution A T missense_variant E55V 164A>T LUSC-US 2 7154628 7154628 single base substitution A T missense_variant E60V 179A>T LUSC-US 2 7154903 7154903 single base substitution G C downstream_gene_variant LUSC-US 2 7154903 7154903 single base substitution G C intron_variant LUSC-US 2 7154903 7154903 single base substitution G C missense_variant E101Q 301G>C LUSC-US 2 7154903 7154903 single base substitution G C missense_variant E96Q 286G>C LUSC-US 2 7154903 7154903 single base substitution G C splice_region_variant LUSC-US 2 7160794 7160794 single base substitution C T downstream_gene_variant LUSC-US 2 7160794 7160794 single base substitution C T exon_variant LUSC-US 2 7160794 7160794 single base substitution C T synonymous_variant F159F 477C>T LUSC-US 2 7160794 7160794 single base substitution C T synonymous_variant F164F 492C>T LUSC-US 2 7164553 7164553 single base substitution G T downstream_gene_variant LUSC-US 2 7164553 7164553 single base substitution G T exon_variant LUSC-US 2 7164553 7164553 single base substitution G T missense_variant C183F 548G>T LUSC-US 2 7164553 7164553 single base substitution G T missense_variant C188F 563G>T MALY-DE 2 7059384 7059384 single base substitution G A intron_variant MALY-DE 2 7064527 7064527 single base substitution C T intron_variant MALY-DE 2 7065390 7065390 single base substitution G T intron_variant MALY-DE 2 7065566 7065566 single base substitution T G intron_variant MALY-DE 2 7069069 7069069 single base substitution G A intron_variant MALY-DE 2 7069069 7069069 single base substitution G A upstream_gene_variant MALY-DE 2 7069998 7069998 single base substitution C A intron_variant MALY-DE 2 7069998 7069998 single base substitution C A upstream_gene_variant MALY-DE 2 7070320 7070320 single base substitution G C intron_variant MALY-DE 2 7070320 7070320 single base substitution G C upstream_gene_variant MALY-DE 2 7070603 7070603 single base substitution G T intron_variant MALY-DE 2 7070603 7070603 single base substitution G T upstream_gene_variant MALY-DE 2 7070732 7070732 single base substitution T C intron_variant MALY-DE 2 7070732 7070732 single base substitution T C upstream_gene_variant MALY-DE 2 7070790 7070790 single base substitution T C intron_variant MALY-DE 2 7070790 7070790 single base substitution T C upstream_gene_variant MALY-DE 2 7073210 7073224 deletion of <=200bp ACTGCGCAGAGCTAT - 5_prime_UTR_variant MALY-DE 2 7073210 7073224 deletion of <=200bp ACTGCGCAGAGCTAT - intron_variant MALY-DE 2 7073210 7073224 deletion of <=200bp ACTGCGCAGAGCTAT - upstream_gene_variant MALY-DE 2 7075486 7075486 single base substitution A T intron_variant MALY-DE 2 7080519 7080519 single base substitution C A intron_variant MALY-DE 2 7080898 7080898 deletion of <=200bp T - intron_variant MALY-DE 2 7084482 7084482 single base substitution G A intron_variant MALY-DE 2 7086389 7086389 single base substitution T C intron_variant MALY-DE 2 7094538 7094538 single base substitution G T intron_variant MALY-DE 2 7094716 7094716 single base substitution A G intron_variant MALY-DE 2 7097338 7097338 single base substitution C A intron_variant MALY-DE 2 7099923 7099923 single base substitution C T intron_variant MALY-DE 2 7101524 7101524 deletion of <=200bp T - intron_variant MALY-DE 2 7101533 7101533 single base substitution T C intron_variant MALY-DE 2 7101619 7101619 single base substitution C G intron_variant MALY-DE 2 7101756 7101756 single base substitution A C intron_variant MALY-DE 2 7102946 7102946 single base substitution T C intron_variant MALY-DE 2 7103166 7103166 single base substitution A C intron_variant MALY-DE 2 7103174 7103174 single base substitution G C intron_variant MALY-DE 2 7104195 7104195 deletion of <=200bp A - intron_variant MALY-DE 2 7105543 7105543 single base substitution C T intron_variant MALY-DE 2 7105873 7105873 single base substitution G C intron_variant MALY-DE 2 7107943 7107943 deletion of <=200bp T - intron_variant MALY-DE 2 7114077 7114077 single base substitution C A intron_variant MALY-DE 2 7114077 7114077 single base substitution C A upstream_gene_variant MALY-DE 2 7120435 7120435 single base substitution A T intron_variant MALY-DE 2 7121646 7121646 single base substitution A G intron_variant MALY-DE 2 7124264 7124264 single base substitution C T intron_variant MALY-DE 2 7128486 7128486 single base substitution T G intron_variant MALY-DE 2 7131109 7131109 single base substitution G A intron_variant MALY-DE 2 7134558 7134558 single base substitution A T intron_variant MALY-DE 2 7134558 7134558 single base substitution A T upstream_gene_variant MALY-DE 2 7139017 7139017 single base substitution G T intron_variant MALY-DE 2 7140574 7140574 single base substitution G A intron_variant MALY-DE 2 7140992 7140992 insertion of <=200bp - TA intron_variant MALY-DE 2 7149221 7149221 single base substitution G A intron_variant MALY-DE 2 7155673 7155673 single base substitution C A downstream_gene_variant MALY-DE 2 7155673 7155673 single base substitution C A intron_variant MALY-DE 2 7158380 7158380 single base substitution G A downstream_gene_variant MALY-DE 2 7158380 7158380 single base substitution G A intron_variant MALY-DE 2 7159428 7159428 single base substitution G T downstream_gene_variant MALY-DE 2 7159428 7159428 single base substitution G T intron_variant MALY-DE 2 7159608 7159608 single base substitution A C downstream_gene_variant MALY-DE 2 7159608 7159608 single base substitution A C intron_variant MALY-DE 2 7160740 7160740 single base substitution C A downstream_gene_variant MALY-DE 2 7160740 7160740 single base substitution C A exon_variant MALY-DE 2 7160740 7160740 single base substitution C A stop_gained C141* 423C>A MALY-DE 2 7160740 7160740 single base substitution C A stop_gained C146* 438C>A MALY-DE 2 7165903 7165903 single base substitution G A downstream_gene_variant MALY-DE 2 7165903 7165903 single base substitution G A intron_variant MALY-DE 2 7175102 7175102 single base substitution T G intron_variant MALY-DE 2 7180445 7180445 single base substitution T C 3_prime_UTR_variant MALY-DE 2 7180445 7180445 single base substitution T C downstream_gene_variant MALY-DE 2 7180445 7180445 single base substitution T C intron_variant MALY-DE 2 7185314 7185314 single base substitution G A downstream_gene_variant MALY-DE 2 7185314 7185314 single base substitution G A intron_variant MALY-DE 2 7185893 7185893 single base substitution T C downstream_gene_variant MALY-DE 2 7185893 7185893 single base substitution T C intron_variant MALY-DE 2 7188878 7188878 single base substitution C T downstream_gene_variant MALY-DE 2 7188878 7188878 single base substitution C T intron_variant MALY-DE 2 7192970 7192971 deletion of <=200bp AC - intron_variant MALY-DE 2 7204338 7204338 single base substitution T C intron_variant MALY-DE 2 7204917 7204917 single base substitution A C intron_variant MALY-DE 2 7209419 7209419 single base substitution T A downstream_gene_variant MALY-DE 2 7212261 7212261 single base substitution C T downstream_gene_variant MALY-DE 2 7213397 7213397 single base substitution C T downstream_gene_variant MELA-AU 2 7053504 7053504 single base substitution C T upstream_gene_variant MELA-AU 2 7053505 7053505 single base substitution C T upstream_gene_variant MELA-AU 2 7053642 7053642 single base substitution G A upstream_gene_variant MELA-AU 2 7053744 7053744 single base substitution G A upstream_gene_variant MELA-AU 2 7053875 7053875 single base substitution G A upstream_gene_variant MELA-AU 2 7054789 7054789 single base substitution C T upstream_gene_variant MELA-AU 2 7055583 7055583 single base substitution G A upstream_gene_variant MELA-AU 2 7055739 7055739 single base substitution G A upstream_gene_variant MELA-AU 2 7056014 7056015 multiple base substitution (>=2bp and <=200bp) CC TT upstream_gene_variant MELA-AU 2 7056258 7056258 single base substitution G A upstream_gene_variant MELA-AU 2 7056267 7056267 single base substitution G A upstream_gene_variant MELA-AU 2 7056614 7056614 single base substitution C T upstream_gene_variant MELA-AU 2 7056618 7056618 single base substitution C T upstream_gene_variant MELA-AU 2 7057093 7057093 single base substitution G A upstream_gene_variant MELA-AU 2 7058256 7058256 single base substitution C T intron_variant MELA-AU 2 7059638 7059638 single base substitution T G intron_variant MELA-AU 2 7059707 7059707 single base substitution C T intron_variant MELA-AU 2 7059771 7059771 single base substitution C T intron_variant MELA-AU 2 7059790 7059790 single base substitution C T intron_variant MELA-AU 2 7059830 7059830 single base substitution C T intron_variant MELA-AU 2 7060450 7060450 single base substitution C T intron_variant MELA-AU 2 7061113 7061113 single base substitution G A intron_variant MELA-AU 2 7062121 7062121 single base substitution C T intron_variant MELA-AU 2 7062321 7062321 single base substitution T A intron_variant MELA-AU 2 7062374 7062374 single base substitution G A intron_variant MELA-AU 2 7062757 7062757 insertion of <=200bp - C intron_variant MELA-AU 2 7062758 7062758 single base substitution T C intron_variant MELA-AU 2 7063049 7063049 single base substitution C T intron_variant MELA-AU 2 7063323 7063323 single base substitution G A intron_variant MELA-AU 2 7063340 7063340 single base substitution C T intron_variant MELA-AU 2 7063713 7063713 single base substitution C T intron_variant MELA-AU 2 7063802 7063802 single base substitution G A intron_variant MELA-AU 2 7063842 7063842 single base substitution C T intron_variant MELA-AU 2 7063849 7063849 single base substitution C T intron_variant MELA-AU 2 7063929 7063930 deletion of <=200bp TA - intron_variant MELA-AU 2 7064768 7064768 single base substitution C T intron_variant MELA-AU 2 7065339 7065339 single base substitution C T intron_variant MELA-AU 2 7065590 7065590 single base substitution T C intron_variant MELA-AU 2 7066196 7066196 single base substitution C G intron_variant MELA-AU 2 7066665 7066665 single base substitution C A intron_variant MELA-AU 2 7066757 7066757 single base substitution C T intron_variant MELA-AU 2 7068093 7068093 single base substitution C T intron_variant MELA-AU 2 7068108 7068108 single base substitution C T intron_variant MELA-AU 2 7068428 7068428 single base substitution C T intron_variant MELA-AU 2 7068428 7068428 single base substitution C T upstream_gene_variant MELA-AU 2 7070337 7070337 single base substitution A T intron_variant MELA-AU 2 7070337 7070337 single base substitution A T upstream_gene_variant MELA-AU 2 7072121 7072121 single base substitution T A intron_variant MELA-AU 2 7072121 7072121 single base substitution T A upstream_gene_variant MELA-AU 2 7072200 7072200 single base substitution G C intron_variant MELA-AU 2 7072200 7072200 single base substitution G C upstream_gene_variant MELA-AU 2 7072237 7072237 single base substitution A T intron_variant MELA-AU 2 7072237 7072237 single base substitution A T upstream_gene_variant MELA-AU 2 7072599 7072599 single base substitution C T intron_variant MELA-AU 2 7072599 7072599 single base substitution C T upstream_gene_variant MELA-AU 2 7072605 7072605 single base substitution T C intron_variant MELA-AU 2 7072605 7072605 single base substitution T C upstream_gene_variant MELA-AU 2 7072709 7072709 single base substitution T C intron_variant MELA-AU 2 7072709 7072709 single base substitution T C upstream_gene_variant MELA-AU 2 7074226 7074227 multiple base substitution (>=2bp and <=200bp) CC TT intron_variant MELA-AU 2 7074678 7074678 single base substitution C T intron_variant MELA-AU 2 7074974 7074974 single base substitution G A intron_variant MELA-AU 2 7075195 7075195 single base substitution C T intron_variant MELA-AU 2 7075828 7075828 single base substitution G A intron_variant MELA-AU 2 7075831 7075831 single base substitution G T intron_variant MELA-AU 2 7076072 7076073 multiple base substitution (>=2bp and <=200bp) CC TT intron_variant MELA-AU 2 7076379 7076379 single base substitution C T intron_variant MELA-AU 2 7076767 7076767 single base substitution C T intron_variant MELA-AU 2 7076817 7076817 single base substitution C T intron_variant MELA-AU 2 7077981 7077981 single base substitution C T intron_variant MELA-AU 2 7077983 7077983 single base substitution C A intron_variant MELA-AU 2 7078618 7078619 multiple base substitution (>=2bp and <=200bp) CC TT intron_variant MELA-AU 2 7078849 7078849 single base substitution C T intron_variant MELA-AU 2 7080129 7080129 single base substitution A G intron_variant MELA-AU 2 7080438 7080438 single base substitution C T intron_variant MELA-AU 2 7080652 7080652 single base substitution C T intron_variant MELA-AU 2 7083236 7083236 single base substitution G A intron_variant MELA-AU 2 7083345 7083345 single base substitution C T intron_variant MELA-AU 2 7084356 7084356 single base substitution A G intron_variant MELA-AU 2 7085060 7085060 single base substitution C T intron_variant MELA-AU 2 7085234 7085235 multiple base substitution (>=2bp and <=200bp) CC TT intron_variant MELA-AU 2 7086618 7086618 single base substitution C T intron_variant MELA-AU 2 7086873 7086873 single base substitution C T intron_variant MELA-AU 2 7087318 7087318 single base substitution A G intron_variant MELA-AU 2 7087382 7087382 single base substitution T A intron_variant MELA-AU 2 7087693 7087693 single base substitution C T intron_variant MELA-AU 2 7087848 7087848 single base substitution A G intron_variant MELA-AU 2 7088529 7088529 single base substitution C T intron_variant MELA-AU 2 7088911 7088911 single base substitution A T intron_variant MELA-AU 2 7089296 7089296 single base substitution G A intron_variant MELA-AU 2 7089555 7089555 single base substitution G A intron_variant MELA-AU 2 7090163 7090163 single base substitution C T intron_variant MELA-AU 2 7090404 7090404 single base substitution T C intron_variant MELA-AU 2 7091820 7091820 single base substitution C T intron_variant MELA-AU 2 7092105 7092105 single base substitution C T intron_variant MELA-AU 2 7092342 7092342 single base substitution T A intron_variant MELA-AU 2 7092368 7092368 single base substitution C A intron_variant MELA-AU 2 7092414 7092414 single base substitution G A intron_variant MELA-AU 2 7092475 7092475 single base substitution C T intron_variant MELA-AU 2 7093385 7093385 single base substitution C T intron_variant MELA-AU 2 7093412 7093412 single base substitution T C intron_variant MELA-AU 2 7093443 7093443 single base substitution C T intron_variant MELA-AU 2 7093694 7093694 single base substitution C T intron_variant MELA-AU 2 7094109 7094109 single base substitution C T intron_variant MELA-AU 2 7094202 7094203 multiple base substitution (>=2bp and <=200bp) CC TT intron_variant MELA-AU 2 7094263 7094263 single base substitution T A intron_variant MELA-AU 2 7094474 7094474 single base substitution C T intron_variant MELA-AU 2 7095802 7095802 single base substitution C G intron_variant MELA-AU 2 7095804 7095804 single base substitution C T intron_variant MELA-AU 2 7096611 7096611 single base substitution A T intron_variant MELA-AU 2 7096614 7096614 single base substitution C T intron_variant MELA-AU 2 7096642 7096642 single base substitution A G intron_variant MELA-AU 2 7096693 7096693 single base substitution C T intron_variant MELA-AU 2 7096741 7096741 single base substitution T C intron_variant MELA-AU 2 7096747 7096747 single base substitution C T intron_variant MELA-AU 2 7097258 7097258 single base substitution C T intron_variant MELA-AU 2 7097733 7097733 single base substitution C T intron_variant MELA-AU 2 7098036 7098036 single base substitution C T intron_variant MELA-AU 2 7098188 7098188 single base substitution C T intron_variant MELA-AU 2 7098666 7098666 single base substitution C T intron_variant MELA-AU 2 7098841 7098841 single base substitution C T intron_variant MELA-AU 2 7099819 7099819 single base substitution C A intron_variant MELA-AU 2 7100342 7100342 single base substitution C T intron_variant MELA-AU 2 7100443 7100443 single base substitution C T intron_variant MELA-AU 2 7101616 7101616 single base substitution G A intron_variant MELA-AU 2 7101619 7101619 single base substitution C G intron_variant MELA-AU 2 7102329 7102329 single base substitution A G intron_variant MELA-AU 2 7103709 7103709 single base substitution C T intron_variant MELA-AU 2 7103749 7103749 single base substitution C T intron_variant MELA-AU 2 7104208 7104208 single base substitution A T intron_variant MELA-AU 2 7105604 7105605 multiple base substitution (>=2bp and <=200bp) CC TT intron_variant MELA-AU 2 7105909 7105909 single base substitution C T intron_variant MELA-AU 2 7105983 7105983 single base substitution C T intron_variant MELA-AU 2 7106605 7106606 multiple base substitution (>=2bp and <=200bp) GG CC intron_variant MELA-AU 2 7106867 7106867 single base substitution G A intron_variant MELA-AU 2 7107489 7107489 single base substitution C T intron_variant MELA-AU 2 7107623 7107623 single base substitution C T intron_variant MELA-AU 2 7109086 7109086 single base substitution C T intron_variant MELA-AU 2 7109363 7109363 single base substitution C T intron_variant MELA-AU 2 7109426 7109426 single base substitution T C intron_variant MELA-AU 2 7110276 7110276 single base substitution C T intron_variant MELA-AU 2 7110334 7110334 single base substitution C T intron_variant MELA-AU 2 7110651 7110651 single base substitution C T intron_variant MELA-AU 2 7110697 7110697 single base substitution C T intron_variant MELA-AU 2 7110852 7110852 single base substitution C T intron_variant MELA-AU 2 7111274 7111274 single base substitution C T intron_variant MELA-AU 2 7111920 7111920 single base substitution C T intron_variant MELA-AU 2 7112134 7112134 single base substitution G A intron_variant MELA-AU 2 7113088 7113088 single base substitution C T intron_variant MELA-AU 2 7113503 7113503 deletion of <=200bp A - intron_variant MELA-AU 2 7114295 7114295 single base substitution C T intron_variant MELA-AU 2 7114295 7114295 single base substitution C T upstream_gene_variant MELA-AU 2 7115370 7115370 single base substitution C T intron_variant MELA-AU 2 7115370 7115370 single base substitution C T upstream_gene_variant MELA-AU 2 7115372 7115372 single base substitution C T intron_variant MELA-AU 2 7115372 7115372 single base substitution C T upstream_gene_variant MELA-AU 2 7116638 7116638 single base substitution C T intron_variant MELA-AU 2 7116638 7116638 single base substitution C T upstream_gene_variant MELA-AU 2 7116893 7116893 single base substitution C T intron_variant MELA-AU 2 7116893 7116893 single base substitution C T upstream_gene_variant MELA-AU 2 7117176 7117176 single base substitution T A intron_variant MELA-AU 2 7117176 7117176 single base substitution T A upstream_gene_variant MELA-AU 2 7117397 7117418 deletion of <=200bp CCCAGGGCTGGCAGGAGGCAGG - intron_variant MELA-AU 2 7117397 7117418 deletion of <=200bp CCCAGGGCTGGCAGGAGGCAGG - upstream_gene_variant MELA-AU 2 7118111 7118111 single base substitution G A intron_variant MELA-AU 2 7118111 7118111 single base substitution G A upstream_gene_variant MELA-AU 2 7118385 7118386 multiple base substitution (>=2bp and <=200bp) GG AA intron_variant MELA-AU 2 7118385 7118386 multiple base substitution (>=2bp and <=200bp) GG AA upstream_gene_variant MELA-AU 2 7118860 7118860 single base substitution G A 5_prime_UTR_variant MELA-AU 2 7118860 7118860 single base substitution G A intron_variant MELA-AU 2 7118953 7118953 single base substitution C T 5_prime_UTR_variant MELA-AU 2 7118953 7118953 single base substitution C T intron_variant MELA-AU 2 7119678 7119678 single base substitution C T intron_variant MELA-AU 2 7119891 7119892 multiple base substitution (>=2bp and <=200bp) GG AA intron_variant MELA-AU 2 7120185 7120185 single base substitution C T intron_variant MELA-AU 2 7120326 7120326 single base substitution C T intron_variant MELA-AU 2 7120466 7120466 single base substitution C T intron_variant MELA-AU 2 7120886 7120886 single base substitution C T intron_variant MELA-AU 2 7120995 7120995 single base substitution C T intron_variant MELA-AU 2 7121191 7121192 multiple base substitution (>=2bp and <=200bp) CC TT intron_variant MELA-AU 2 7121192 7121192 single base substitution C T intron_variant MELA-AU 2 7122440 7122440 single base substitution T A intron_variant MELA-AU 2 7122757 7122757 single base substitution G T intron_variant MELA-AU 2 7123839 7123839 single base substitution T A intron_variant MELA-AU 2 7124347 7124347 single base substitution C T intron_variant MELA-AU 2 7126261 7126261 single base substitution G A intron_variant MELA-AU 2 7126496 7126496 single base substitution C A intron_variant MELA-AU 2 7127439 7127439 single base substitution C T intron_variant MELA-AU 2 7127847 7127847 single base substitution C T intron_variant MELA-AU 2 7128050 7128050 single base substitution T C intron_variant MELA-AU 2 7128124 7128124 single base substitution C T intron_variant MELA-AU 2 7128342 7128342 single base substitution C T intron_variant MELA-AU 2 7128646 7128646 single base substitution T C intron_variant MELA-AU 2 7128978 7128978 single base substitution C T intron_variant MELA-AU 2 7128978 7128979 multiple base substitution (>=2bp and <=200bp) CC TT intron_variant MELA-AU 2 7129146 7129147 multiple base substitution (>=2bp and <=200bp) CC TT intron_variant MELA-AU 2 7129528 7129528 single base substitution G A intron_variant MELA-AU 2 7129546 7129546 single base substitution C T intron_variant MELA-AU 2 7130334 7130334 single base substitution G A intron_variant MELA-AU 2 7130943 7130943 single base substitution C T intron_variant MELA-AU 2 7132464 7132464 single base substitution C T intron_variant MELA-AU 2 7132464 7132464 single base substitution C T upstream_gene_variant MELA-AU 2 7132774 7132774 single base substitution C T intron_variant MELA-AU 2 7132774 7132774 single base substitution C T upstream_gene_variant MELA-AU 2 7132826 7132826 single base substitution C T intron_variant MELA-AU 2 7132826 7132826 single base substitution C T upstream_gene_variant MELA-AU 2 7134067 7134067 single base substitution C T intron_variant MELA-AU 2 7134067 7134067 single base substitution C T upstream_gene_variant MELA-AU 2 7134098 7134098 insertion of <=200bp - T intron_variant MELA-AU 2 7134098 7134098 insertion of <=200bp - T upstream_gene_variant MELA-AU 2 7135238 7135238 single base substitution C A intron_variant MELA-AU 2 7135238 7135238 single base substitution C A upstream_gene_variant MELA-AU 2 7135666 7135666 single base substitution G A intron_variant MELA-AU 2 7135666 7135666 single base substitution G A upstream_gene_variant MELA-AU 2 7136143 7136143 single base substitution T G intron_variant MELA-AU 2 7136143 7136143 single base substitution T G upstream_gene_variant MELA-AU 2 7136178 7136178 single base substitution C T intron_variant MELA-AU 2 7136178 7136178 single base substitution C T upstream_gene_variant MELA-AU 2 7136702 7136702 single base substitution G A intron_variant MELA-AU 2 7136702 7136702 single base substitution G A upstream_gene_variant MELA-AU 2 7138134 7138134 single base substitution G A intron_variant MELA-AU 2 7138189 7138189 single base substitution A C intron_variant MELA-AU 2 7138713 7138713 single base substitution T G intron_variant MELA-AU 2 7138797 7138797 single base substitution G A intron_variant MELA-AU 2 7139765 7139765 single base substitution T C intron_variant MELA-AU 2 7140321 7140321 single base substitution T C intron_variant MELA-AU 2 7140844 7140844 single base substitution C T intron_variant MELA-AU 2 7141038 7141038 single base substitution C T intron_variant MELA-AU 2 7142158 7142158 single base substitution C T intron_variant MELA-AU 2 7142421 7142421 single base substitution C T intron_variant MELA-AU 2 7143265 7143265 single base substitution C T intron_variant MELA-AU 2 7144757 7144757 single base substitution G A intron_variant MELA-AU 2 7145121 7145121 single base substitution T A intron_variant MELA-AU 2 7145267 7145267 single base substitution G A intron_variant MELA-AU 2 7145575 7145575 single base substitution C T intron_variant MELA-AU 2 7145909 7145909 single base substitution A G intron_variant MELA-AU 2 7146236 7146236 single base substitution G A intron_variant MELA-AU 2 7146603 7146603 single base substitution C T intron_variant MELA-AU 2 7146783 7146784 multiple base substitution (>=2bp and <=200bp) CC TT intron_variant MELA-AU 2 7146838 7146838 single base substitution C T intron_variant MELA-AU 2 7147189 7147189 single base substitution C T intron_variant MELA-AU 2 7147395 7147395 single base substitution A G intron_variant MELA-AU 2 7147937 7147937 single base substitution C T intron_variant MELA-AU 2 7148489 7148489 single base substitution C T intron_variant MELA-AU 2 7148940 7148941 multiple base substitution (>=2bp and <=200bp) GG AA intron_variant MELA-AU 2 7149100 7149100 single base substitution T C intron_variant MELA-AU 2 7149111 7149111 single base substitution C T intron_variant MELA-AU 2 7150014 7150014 single base substitution G T intron_variant MELA-AU 2 7150097 7150097 single base substitution C T intron_variant MELA-AU 2 7150277 7150277 single base substitution A C intron_variant MELA-AU 2 7150283 7150283 single base substitution C T intron_variant MELA-AU 2 7150351 7150351 single base substitution C T intron_variant MELA-AU 2 7151033 7151033 insertion of <=200bp - TG intron_variant MELA-AU 2 7151104 7151104 single base substitution T C intron_variant MELA-AU 2 7153134 7153134 single base substitution C G intron_variant MELA-AU 2 7154674 7154674 single base substitution C T downstream_gene_variant MELA-AU 2 7154674 7154674 single base substitution C T exon_variant MELA-AU 2 7154674 7154674 single base substitution C T intron_variant MELA-AU 2 7154674 7154674 single base substitution C T synonymous_variant H70H 210C>T MELA-AU 2 7154674 7154674 single base substitution C T synonymous_variant H75H 225C>T MELA-AU 2 7154837 7154837 single base substitution C T downstream_gene_variant MELA-AU 2 7154837 7154837 single base substitution C T intron_variant MELA-AU 2 7154837 7154837 single base substitution C T splice_region_variant MELA-AU 2 7155350 7155350 single base substitution C T downstream_gene_variant MELA-AU 2 7155350 7155350 single base substitution C T intron_variant MELA-AU 2 7155359 7155359 single base substitution G A downstream_gene_variant MELA-AU 2 7155359 7155359 single base substitution G A intron_variant MELA-AU 2 7155587 7155587 single base substitution C T downstream_gene_variant MELA-AU 2 7155587 7155587 single base substitution C T intron_variant MELA-AU 2 7155722 7155722 single base substitution C T downstream_gene_variant MELA-AU 2 7155722 7155722 single base substitution C T intron_variant MELA-AU 2 7155876 7155877 multiple base substitution (>=2bp and <=200bp) GC AA downstream_gene_variant MELA-AU 2 7155876 7155877 multiple base substitution (>=2bp and <=200bp) GC AA intron_variant MELA-AU 2 7156503 7156503 single base substitution G A downstream_gene_variant MELA-AU 2 7156503 7156503 single base substitution G A intron_variant MELA-AU 2 7157087 7157087 single base substitution C T downstream_gene_variant MELA-AU 2 7157087 7157087 single base substitution C T intron_variant MELA-AU 2 7158126 7158126 single base substitution C T downstream_gene_variant MELA-AU 2 7158126 7158126 single base substitution C T intron_variant MELA-AU 2 7160018 7160018 single base substitution G A intron_variant MELA-AU 2 7160794 7160794 single base substitution C T downstream_gene_variant MELA-AU 2 7160794 7160794 single base substitution C T exon_variant MELA-AU 2 7160794 7160794 single base substitution C T synonymous_variant F159F 477C>T MELA-AU 2 7160794 7160794 single base substitution C T synonymous_variant F164F 492C>T MELA-AU 2 7161530 7161530 single base substitution C T downstream_gene_variant MELA-AU 2 7161530 7161530 single base substitution C T intron_variant MELA-AU 2 7161589 7161589 single base substitution C T downstream_gene_variant MELA-AU 2 7161589 7161589 single base substitution C T intron_variant MELA-AU 2 7161682 7161682 single base substitution C T downstream_gene_variant MELA-AU 2 7161682 7161682 single base substitution C T intron_variant MELA-AU 2 7162717 7162717 single base substitution C T downstream_gene_variant MELA-AU 2 7162717 7162717 single base substitution C T intron_variant MELA-AU 2 7163352 7163353 multiple base substitution (>=2bp and <=200bp) CC TT downstream_gene_variant MELA-AU 2 7163352 7163353 multiple base substitution (>=2bp and <=200bp) CC TT intron_variant MELA-AU 2 7164271 7164271 single base substitution A G downstream_gene_variant MELA-AU 2 7164271 7164271 single base substitution A G intron_variant MELA-AU 2 7165348 7165348 single base substitution C T downstream_gene_variant MELA-AU 2 7165348 7165348 single base substitution C T intron_variant MELA-AU 2 7165392 7165392 single base substitution T C downstream_gene_variant MELA-AU 2 7165392 7165392 single base substitution T C intron_variant MELA-AU 2 7165658 7165658 single base substitution C T downstream_gene_variant MELA-AU 2 7165658 7165658 single base substitution C T intron_variant MELA-AU 2 7165810 7165810 single base substitution A T downstream_gene_variant MELA-AU 2 7165810 7165810 single base substitution A T intron_variant MELA-AU 2 7166194 7166195 multiple base substitution (>=2bp and <=200bp) GG AT downstream_gene_variant MELA-AU 2 7166194 7166195 multiple base substitution (>=2bp and <=200bp) GG AT intron_variant MELA-AU 2 7166469 7166469 single base substitution C T downstream_gene_variant MELA-AU 2 7166469 7166469 single base substitution C T intron_variant MELA-AU 2 7166917 7166917 single base substitution C T downstream_gene_variant MELA-AU 2 7166917 7166917 single base substitution C T intron_variant MELA-AU 2 7167522 7167522 single base substitution C T downstream_gene_variant MELA-AU 2 7167522 7167522 single base substitution C T intron_variant MELA-AU 2 7167737 7167737 single base substitution G A downstream_gene_variant MELA-AU 2 7167737 7167737 single base substitution G A intron_variant MELA-AU 2 7167796 7167796 single base substitution C T downstream_gene_variant MELA-AU 2 7167796 7167796 single base substitution C T intron_variant MELA-AU 2 7167950 7167950 single base substitution C T downstream_gene_variant MELA-AU 2 7167950 7167950 single base substitution C T intron_variant MELA-AU 2 7169410 7169410 single base substitution C T downstream_gene_variant MELA-AU 2 7169410 7169410 single base substitution C T intron_variant MELA-AU 2 7169811 7169811 single base substitution C T intron_variant MELA-AU 2 7170733 7170733 single base substitution G A intron_variant MELA-AU 2 7171213 7171213 single base substitution C T intron_variant MELA-AU 2 7171302 7171302 single base substitution G T intron_variant MELA-AU 2 7171318 7171318 single base substitution C T intron_variant MELA-AU 2 7171744 7171744 single base substitution C T intron_variant MELA-AU 2 7171962 7171962 single base substitution C T intron_variant MELA-AU 2 7172097 7172097 single base substitution C G intron_variant MELA-AU 2 7172795 7172795 single base substitution C T intron_variant MELA-AU 2 7172974 7172974 single base substitution C T intron_variant MELA-AU 2 7173644 7173644 single base substitution C T intron_variant MELA-AU 2 7173791 7173791 single base substitution C T intron_variant MELA-AU 2 7174147 7174147 single base substitution C T intron_variant MELA-AU 2 7174320 7174320 single base substitution C T intron_variant MELA-AU 2 7174417 7174417 single base substitution A G intron_variant MELA-AU 2 7174759 7174759 single base substitution C T intron_variant MELA-AU 2 7175776 7175777 multiple base substitution (>=2bp and <=200bp) CC TT intron_variant MELA-AU 2 7175813 7175813 single base substitution T G intron_variant MELA-AU 2 7175884 7175884 single base substitution C T intron_variant MELA-AU 2 7176090 7176090 single base substitution T G intron_variant MELA-AU 2 7176092 7176092 single base substitution A T intron_variant MELA-AU 2 7176397 7176397 single base substitution A G intron_variant MELA-AU 2 7176805 7176805 single base substitution C T intron_variant MELA-AU 2 7177216 7177216 single base substitution C T intron_variant MELA-AU 2 7177729 7177729 single base substitution C T intron_variant MELA-AU 2 7179355 7179355 single base substitution G A intron_variant MELA-AU 2 7181946 7181946 single base substitution C T 3_prime_UTR_variant MELA-AU 2 7181946 7181946 single base substitution C T downstream_gene_variant MELA-AU 2 7181946 7181946 single base substitution C T intron_variant MELA-AU 2 7182139 7182139 single base substitution C T 3_prime_UTR_variant MELA-AU 2 7182139 7182139 single base substitution C T downstream_gene_variant MELA-AU 2 7182139 7182139 single base substitution C T intron_variant MELA-AU 2 7182603 7182603 single base substitution G A 3_prime_UTR_variant MELA-AU 2 7182603 7182603 single base substitution G A downstream_gene_variant MELA-AU 2 7182603 7182603 single base substitution G A intron_variant MELA-AU 2 7183089 7183089 single base substitution C T 3_prime_UTR_variant MELA-AU 2 7183089 7183089 single base substitution C T downstream_gene_variant MELA-AU 2 7183089 7183089 single base substitution C T intron_variant MELA-AU 2 7183343 7183343 single base substitution C T 3_prime_UTR_variant MELA-AU 2 7183343 7183343 single base substitution C T downstream_gene_variant MELA-AU 2 7183343 7183343 single base substitution C T intron_variant MELA-AU 2 7183448 7183448 single base substitution C T 3_prime_UTR_variant MELA-AU 2 7183448 7183448 single base substitution C T downstream_gene_variant MELA-AU 2 7183448 7183448 single base substitution C T intron_variant MELA-AU 2 7183534 7183534 single base substitution G A 3_prime_UTR_variant MELA-AU 2 7183534 7183534 single base substitution G A downstream_gene_variant MELA-AU 2 7183534 7183534 single base substitution G A intron_variant MELA-AU 2 7183907 7183907 single base substitution C T 3_prime_UTR_variant MELA-AU 2 7183907 7183907 single base substitution C T downstream_gene_variant MELA-AU 2 7183907 7183907 single base substitution C T intron_variant MELA-AU 2 7183947 7183947 single base substitution C T 3_prime_UTR_variant MELA-AU 2 7183947 7183947 single base substitution C T downstream_gene_variant MELA-AU 2 7183947 7183947 single base substitution C T intron_variant MELA-AU 2 7184790 7184790 single base substitution C T downstream_gene_variant MELA-AU 2 7184790 7184790 single base substitution C T intron_variant MELA-AU 2 7185647 7185647 single base substitution C T downstream_gene_variant MELA-AU 2 7185647 7185647 single base substitution C T intron_variant MELA-AU 2 7185685 7185685 single base substitution G A downstream_gene_variant MELA-AU 2 7185685 7185685 single base substitution G A intron_variant MELA-AU 2 7185796 7185796 single base substitution T C downstream_gene_variant MELA-AU 2 7185796 7185796 single base substitution T C intron_variant MELA-AU 2 7185818 7185818 single base substitution C T downstream_gene_variant MELA-AU 2 7185818 7185818 single base substitution C T intron_variant MELA-AU 2 7185882 7185882 single base substitution C T downstream_gene_variant MELA-AU 2 7185882 7185882 single base substitution C T intron_variant MELA-AU 2 7186052 7186052 single base substitution C T downstream_gene_variant MELA-AU 2 7186052 7186052 single base substitution C T intron_variant MELA-AU 2 7186948 7186949 deletion of <=200bp AA - downstream_gene_variant MELA-AU 2 7186948 7186949 deletion of <=200bp AA - intron_variant MELA-AU 2 7187877 7187877 single base substitution C T downstream_gene_variant MELA-AU 2 7187877 7187877 single base substitution C T intron_variant MELA-AU 2 7187878 7187878 single base substitution C T downstream_gene_variant MELA-AU 2 7187878 7187878 single base substitution C T intron_variant MELA-AU 2 7187976 7187976 single base substitution A T downstream_gene_variant MELA-AU 2 7187976 7187976 single base substitution A T intron_variant MELA-AU 2 7187978 7187978 single base substitution C T downstream_gene_variant MELA-AU 2 7187978 7187978 single base substitution C T intron_variant MELA-AU 2 7188283 7188283 single base substitution C T downstream_gene_variant MELA-AU 2 7188283 7188283 single base substitution C T intron_variant MELA-AU 2 7188686 7188686 single base substitution C T downstream_gene_variant MELA-AU 2 7188686 7188686 single base substitution C T intron_variant MELA-AU 2 7188851 7188851 single base substitution G C downstream_gene_variant MELA-AU 2 7188851 7188851 single base substitution G C intron_variant MELA-AU 2 7189265 7189265 single base substitution C T downstream_gene_variant MELA-AU 2 7189265 7189265 single base substitution C T intron_variant MELA-AU 2 7189332 7189332 single base substitution C T intron_variant MELA-AU 2 7189603 7189603 single base substitution C T intron_variant MELA-AU 2 7190065 7190070 deletion of <=200bp CAGGGG - intron_variant MELA-AU 2 7190245 7190245 single base substitution C T intron_variant MELA-AU 2 7190320 7190320 single base substitution C T intron_variant MELA-AU 2 7190725 7190725 single base substitution C T intron_variant MELA-AU 2 7190732 7190732 single base substitution G T intron_variant MELA-AU 2 7190970 7190970 single base substitution C T intron_variant MELA-AU 2 7191121 7191121 single base substitution C T intron_variant MELA-AU 2 7191435 7191435 single base substitution C T intron_variant MELA-AU 2 7191611 7191611 single base substitution G A intron_variant MELA-AU 2 7192503 7192503 single base substitution C T intron_variant MELA-AU 2 7192650 7192650 single base substitution C T intron_variant MELA-AU 2 7194432 7194432 single base substitution G A intron_variant MELA-AU 2 7194836 7194836 single base substitution G A intron_variant MELA-AU 2 7195255 7195255 single base substitution C T intron_variant MELA-AU 2 7195951 7195951 single base substitution G A intron_variant MELA-AU 2 7196310 7196310 single base substitution G A intron_variant MELA-AU 2 7196394 7196394 single base substitution C T intron_variant MELA-AU 2 7196850 7196851 multiple base substitution (>=2bp and <=200bp) CC TT intron_variant MELA-AU 2 7196853 7196853 single base substitution T C intron_variant MELA-AU 2 7198047 7198048 multiple base substitution (>=2bp and <=200bp) CC TT intron_variant MELA-AU 2 7198305 7198305 single base substitution T A intron_variant MELA-AU 2 7198611 7198611 single base substitution A T intron_variant MELA-AU 2 7200351 7200351 single base substitution C T intron_variant MELA-AU 2 7200781 7200781 single base substitution C T intron_variant MELA-AU 2 7201629 7201629 single base substitution G A intron_variant MELA-AU 2 7202027 7202027 single base substitution C T intron_variant MELA-AU 2 7202249 7202250 multiple base substitution (>=2bp and <=200bp) GG AA intron_variant MELA-AU 2 7203021 7203022 multiple base substitution (>=2bp and <=200bp) CC TT intron_variant MELA-AU 2 7203701 7203701 single base substitution C T intron_variant MELA-AU 2 7203879 7203879 single base substitution C T intron_variant MELA-AU 2 7203995 7203995 single base substitution C T intron_variant MELA-AU 2 7204523 7204526 deletion of <=200bp ATTT - intron_variant MELA-AU 2 7204758 7204758 single base substitution A G intron_variant MELA-AU 2 7204851 7204851 single base substitution A G intron_variant MELA-AU 2 7205407 7205407 single base substitution C T intron_variant MELA-AU 2 7205568 7205568 single base substitution C T intron_variant MELA-AU 2 7205684 7205684 single base substitution T G intron_variant MELA-AU 2 7205729 7205729 single base substitution C T intron_variant MELA-AU 2 7206012 7206012 single base substitution C T intron_variant MELA-AU 2 7206218 7206218 single base substitution T C intron_variant MELA-AU 2 7206512 7206512 single base substitution C T intron_variant MELA-AU 2 7206622 7206622 single base substitution C T intron_variant MELA-AU 2 7207330 7207330 single base substitution C T intron_variant MELA-AU 2 7207372 7207372 single base substitution C T intron_variant MELA-AU 2 7207505 7207505 single base substitution C T intron_variant MELA-AU 2 7207824 7207824 single base substitution C T intron_variant MELA-AU 2 7208407 7208407 single base substitution G A 3_prime_UTR_variant MELA-AU 2 7208431 7208431 single base substitution T A downstream_gene_variant MELA-AU 2 7208538 7208538 single base substitution G A downstream_gene_variant MELA-AU 2 7208581 7208581 single base substitution C T downstream_gene_variant MELA-AU 2 7208733 7208733 single base substitution C T downstream_gene_variant MELA-AU 2 7208879 7208879 single base substitution C T downstream_gene_variant MELA-AU 2 7209360 7209360 single base substitution C T downstream_gene_variant MELA-AU 2 7209776 7209776 single base substitution C A downstream_gene_variant MELA-AU 2 7209864 7209864 single base substitution G A downstream_gene_variant MELA-AU 2 7209987 7209988 multiple base substitution (>=2bp and <=200bp) GT TA downstream_gene_variant MELA-AU 2 7210131 7210131 single base substitution C G downstream_gene_variant MELA-AU 2 7210241 7210241 single base substitution A G downstream_gene_variant MELA-AU 2 7210250 7210250 single base substitution G A downstream_gene_variant MELA-AU 2 7210704 7210704 single base substitution T C downstream_gene_variant MELA-AU 2 7211114 7211114 single base substitution G A downstream_gene_variant MELA-AU 2 7211492 7211492 single base substitution C T downstream_gene_variant MELA-AU 2 7211615 7211615 single base substitution C T downstream_gene_variant MELA-AU 2 7211829 7211829 single base substitution C T downstream_gene_variant MELA-AU 2 7211985 7211985 single base substitution C T downstream_gene_variant MELA-AU 2 7213155 7213155 single base substitution C T downstream_gene_variant MELA-AU 2 7213202 7213202 single base substitution C T downstream_gene_variant ORCA-IN 2 7055320 7055320 single base substitution G C upstream_gene_variant ORCA-IN 2 7057142 7057142 single base substitution C T upstream_gene_variant ORCA-IN 2 7075766 7075828 deletion of <=200bp ATGGGATGGCCTCTCACCTTGTGAGCTCATTTGGCTTCCAGTGTTAATGGTAACAGCATGTAG - intron_variant ORCA-IN 2 7075828 7075828 single base substitution G A intron_variant ORCA-IN 2 7077570 7077570 single base substitution C G intron_variant ORCA-IN 2 7102713 7102713 single base substitution C T intron_variant ORCA-IN 2 7130395 7130395 single base substitution G A intron_variant ORCA-IN 2 7137529 7137529 single base substitution T C intron_variant ORCA-IN 2 7141938 7141938 single base substitution G C intron_variant ORCA-IN 2 7147876 7147876 single base substitution G T intron_variant ORCA-IN 2 7148884 7148884 single base substitution G A intron_variant ORCA-IN 2 7155985 7155985 single base substitution C T downstream_gene_variant ORCA-IN 2 7155985 7155985 single base substitution C T intron_variant ORCA-IN 2 7164638 7164638 single base substitution G T downstream_gene_variant ORCA-IN 2 7164638 7164638 single base substitution G T exon_variant ORCA-IN 2 7164638 7164638 single base substitution G T missense_variant E211D 633G>T ORCA-IN 2 7164638 7164638 single base substitution G T missense_variant E216D 648G>T ORCA-IN 2 7165713 7165713 single base substitution G T downstream_gene_variant ORCA-IN 2 7165713 7165713 single base substitution G T intron_variant ORCA-IN 2 7171956 7171956 deletion of <=200bp C - intron_variant ORCA-IN 2 7177424 7177424 single base substitution G A intron_variant ORCA-IN 2 7188243 7188243 single base substitution C T downstream_gene_variant ORCA-IN 2 7188243 7188243 single base substitution C T intron_variant OV-AU 2 7060296 7060296 single base substitution C T intron_variant OV-AU 2 7060736 7060736 single base substitution C T intron_variant OV-AU 2 7062413 7062413 single base substitution A G intron_variant OV-AU 2 7068325 7068325 single base substitution A G intron_variant OV-AU 2 7068325 7068325 single base substitution A G upstream_gene_variant OV-AU 2 7069545 7069545 single base substitution G T intron_variant OV-AU 2 7069545 7069545 single base substitution G T upstream_gene_variant OV-AU 2 7077228 7077228 single base substitution T C intron_variant OV-AU 2 7083111 7083111 single base substitution A T intron_variant OV-AU 2 7084495 7084495 single base substitution G A intron_variant OV-AU 2 7089739 7089739 single base substitution C A intron_variant OV-AU 2 7089740 7089740 single base substitution G A intron_variant OV-AU 2 7091700 7091700 single base substitution C T intron_variant OV-AU 2 7092543 7092543 single base substitution T A intron_variant OV-AU 2 7092571 7092571 single base substitution C G intron_variant OV-AU 2 7101912 7101912 single base substitution A T intron_variant OV-AU 2 7103056 7103056 single base substitution A G intron_variant OV-AU 2 7104938 7104938 single base substitution C G intron_variant OV-AU 2 7109807 7109807 single base substitution G A intron_variant OV-AU 2 7110450 7110450 single base substitution G T intron_variant OV-AU 2 7111911 7111911 single base substitution G A intron_variant OV-AU 2 7125424 7125424 single base substitution T A intron_variant OV-AU 2 7129357 7129357 single base substitution C G intron_variant OV-AU 2 7131160 7131160 single base substitution G C intron_variant OV-AU 2 7136912 7136912 single base substitution C G exon_variant OV-AU 2 7136912 7136912 single base substitution C G intron_variant OV-AU 2 7136912 7136912 single base substitution C G upstream_gene_variant OV-AU 2 7138589 7138589 single base substitution T C intron_variant OV-AU 2 7141585 7141585 single base substitution A T intron_variant OV-AU 2 7141858 7141858 single base substitution G A intron_variant OV-AU 2 7146287 7146287 single base substitution A C intron_variant OV-AU 2 7154681 7154681 single base substitution G A downstream_gene_variant OV-AU 2 7154681 7154681 single base substitution G A exon_variant OV-AU 2 7154681 7154681 single base substitution G A intron_variant OV-AU 2 7154681 7154681 single base substitution G A missense_variant E73K 217G>A OV-AU 2 7154681 7154681 single base substitution G A missense_variant E78K 232G>A OV-AU 2 7175240 7175240 single base substitution G A intron_variant OV-AU 2 7185177 7185177 single base substitution G T downstream_gene_variant OV-AU 2 7185177 7185177 single base substitution G T intron_variant OV-AU 2 7190621 7190621 single base substitution G A intron_variant OV-AU 2 7198723 7198723 single base substitution A C intron_variant OV-AU 2 7198784 7198784 single base substitution C T intron_variant OV-AU 2 7204173 7204173 single base substitution C A intron_variant OV-AU 2 7204769 7204769 single base substitution G T intron_variant OV-AU 2 7206355 7206355 single base substitution A C intron_variant OV-AU 2 7206453 7206453 single base substitution C T intron_variant OV-AU 2 7206686 7206686 single base substitution G A intron_variant OV-AU 2 7208620 7208620 single base substitution A G downstream_gene_variant OV-AU 2 7212581 7212581 single base substitution G C downstream_gene_variant OV-US 2 7137070 7137070 single base substitution A C exon_variant OV-US 2 7137070 7137070 single base substitution A C intron_variant OV-US 2 7137070 7137070 single base substitution A C synonymous_variant R5R 13A>C OV-US 2 7137070 7137070 single base substitution A C upstream_gene_variant PACA-AU 2 7052844 7052844 single base substitution G A upstream_gene_variant PACA-AU 2 7063925 7063925 single base substitution A G intron_variant PACA-AU 2 7068244 7068244 single base substitution C T intron_variant PACA-AU 2 7068244 7068244 single base substitution C T upstream_gene_variant PACA-AU 2 7069804 7069804 single base substitution G A intron_variant PACA-AU 2 7069804 7069804 single base substitution G A upstream_gene_variant PACA-AU 2 7075213 7075213 single base substitution C T intron_variant PACA-AU 2 7089069 7089069 single base substitution C A intron_variant PACA-AU 2 7092393 7092393 single base substitution T C intron_variant PACA-AU 2 7101716 7101716 single base substitution C A intron_variant PACA-AU 2 7101836 7101836 single base substitution C T intron_variant PACA-AU 2 7107049 7107049 single base substitution A T intron_variant PACA-AU 2 7107544 7107544 single base substitution C T intron_variant PACA-AU 2 7107626 7107626 single base substitution G A intron_variant PACA-AU 2 7110183 7110183 single base substitution G A intron_variant PACA-AU 2 7112179 7112179 deletion of <=200bp C - intron_variant PACA-AU 2 7113826 7113826 single base substitution T C intron_variant PACA-AU 2 7113826 7113826 single base substitution T C upstream_gene_variant PACA-AU 2 7113860 7113860 single base substitution A T intron_variant PACA-AU 2 7113860 7113860 single base substitution A T upstream_gene_variant PACA-AU 2 7115772 7115772 single base substitution G T intron_variant PACA-AU 2 7115772 7115772 single base substitution G T upstream_gene_variant PACA-AU 2 7116458 7116458 single base substitution T C intron_variant PACA-AU 2 7116458 7116458 single base substitution T C upstream_gene_variant PACA-AU 2 7117193 7117193 single base substitution C T intron_variant PACA-AU 2 7117193 7117193 single base substitution C T upstream_gene_variant PACA-AU 2 7117962 7117962 single base substitution G A intron_variant PACA-AU 2 7117962 7117962 single base substitution G A upstream_gene_variant PACA-AU 2 7119556 7119556 single base substitution A C intron_variant PACA-AU 2 7123177 7123177 single base substitution C T intron_variant PACA-AU 2 7124420 7124420 insertion of <=200bp - AGTTTCTT intron_variant PACA-AU 2 7125565 7125565 single base substitution T G intron_variant PACA-AU 2 7134135 7134135 single base substitution A G intron_variant PACA-AU 2 7134135 7134135 single base substitution A G upstream_gene_variant PACA-AU 2 7139474 7139474 single base substitution G A intron_variant PACA-AU 2 7140547 7140547 single base substitution G A intron_variant PACA-AU 2 7149887 7149909 deletion of <=200bp CCTCCAGCCTCCTTAACCACAGC - intron_variant PACA-AU 2 7155338 7155338 single base substitution G A downstream_gene_variant PACA-AU 2 7155338 7155338 single base substitution G A intron_variant PACA-AU 2 7161420 7161420 single base substitution G A downstream_gene_variant PACA-AU 2 7161420 7161420 single base substitution G A intron_variant PACA-AU 2 7166736 7166736 single base substitution G T downstream_gene_variant PACA-AU 2 7166736 7166736 single base substitution G T intron_variant PACA-AU 2 7168735 7168735 single base substitution G T downstream_gene_variant PACA-AU 2 7168735 7168735 single base substitution G T intron_variant PACA-AU 2 7176143 7176143 single base substitution C T intron_variant PACA-AU 2 7176213 7176213 single base substitution C G intron_variant PACA-AU 2 7182863 7182863 single base substitution G A 3_prime_UTR_variant PACA-AU 2 7182863 7182863 single base substitution G A downstream_gene_variant PACA-AU 2 7182863 7182863 single base substitution G A intron_variant PACA-AU 2 7196064 7196064 single base substitution G A intron_variant PACA-AU 2 7200034 7200034 single base substitution C T intron_variant PACA-AU 2 7207711 7207711 single base substitution G A intron_variant PACA-AU 2 7208123 7208123 single base substitution C T intron_variant PACA-AU 2 7208993 7208993 single base substitution C T downstream_gene_variant PACA-CA 2 7053744 7053744 single base substitution G A upstream_gene_variant PACA-CA 2 7054980 7054980 single base substitution T A upstream_gene_variant PACA-CA 2 7057034 7057034 single base substitution T G upstream_gene_variant PACA-CA 2 7061514 7061514 single base substitution T C intron_variant PACA-CA 2 7062964 7062964 single base substitution C G intron_variant PACA-CA 2 7063976 7063976 single base substitution C T intron_variant PACA-CA 2 7064127 7064127 single base substitution A T intron_variant PACA-CA 2 7067341 7067341 single base substitution C A intron_variant PACA-CA 2 7070711 7070711 single base substitution C T intron_variant PACA-CA 2 7070711 7070711 single base substitution C T upstream_gene_variant PACA-CA 2 7071476 7071476 single base substitution G T intron_variant PACA-CA 2 7071476 7071476 single base substitution G T upstream_gene_variant PACA-CA 2 7073919 7073919 single base substitution G A intron_variant PACA-CA 2 7075162 7075162 single base substitution T C intron_variant PACA-CA 2 7075646 7075646 single base substitution A G intron_variant PACA-CA 2 7075828 7075828 single base substitution G A intron_variant PACA-CA 2 7076927 7076927 single base substitution C T intron_variant PACA-CA 2 7080130 7080130 insertion of <=200bp - T intron_variant PACA-CA 2 7082842 7082842 single base substitution C T intron_variant PACA-CA 2 7083501 7083501 single base substitution G A intron_variant PACA-CA 2 7083750 7083750 single base substitution G T intron_variant PACA-CA 2 7086102 7086102 single base substitution C T intron_variant PACA-CA 2 7086603 7086603 insertion of <=200bp - T intron_variant PACA-CA 2 7087395 7087395 single base substitution A G intron_variant PACA-CA 2 7090901 7090901 single base substitution T C intron_variant PACA-CA 2 7093556 7093556 single base substitution G A intron_variant PACA-CA 2 7094440 7094440 single base substitution T C intron_variant PACA-CA 2 7094471 7094471 single base substitution T G intron_variant PACA-CA 2 7095513 7095513 single base substitution A G intron_variant PACA-CA 2 7098136 7098136 single base substitution C T intron_variant PACA-CA 2 7098885 7098885 single base substitution C G intron_variant PACA-CA 2 7099306 7099306 single base substitution G A intron_variant PACA-CA 2 7099438 7099438 single base substitution G T intron_variant PACA-CA 2 7099920 7099920 insertion of <=200bp - C intron_variant PACA-CA 2 7101498 7101498 single base substitution C A intron_variant PACA-CA 2 7101610 7101610 single base substitution C T intron_variant PACA-CA 2 7103551 7103551 single base substitution G A intron_variant PACA-CA 2 7104696 7104696 single base substitution C T intron_variant PACA-CA 2 7106283 7106283 single base substitution C T intron_variant PACA-CA 2 7106960 7106960 single base substitution G T intron_variant PACA-CA 2 7106996 7106996 single base substitution C T intron_variant PACA-CA 2 7112239 7112239 single base substitution C G intron_variant PACA-CA 2 7112528 7112529 deletion of <=200bp AC - intron_variant PACA-CA 2 7113015 7113015 single base substitution T G intron_variant PACA-CA 2 7113710 7113710 single base substitution A T intron_variant PACA-CA 2 7115395 7115395 single base substitution G A intron_variant PACA-CA 2 7115395 7115395 single base substitution G A upstream_gene_variant PACA-CA 2 7117755 7117755 single base substitution G A intron_variant PACA-CA 2 7117755 7117755 single base substitution G A upstream_gene_variant PACA-CA 2 7118968 7118968 single base substitution T A intron_variant PACA-CA 2 7118968 7118968 single base substitution T A splice_region_variant PACA-CA 2 7119242 7119242 single base substitution C T intron_variant PACA-CA 2 7120139 7120139 single base substitution G A intron_variant PACA-CA 2 7121550 7121550 single base substitution G A intron_variant PACA-CA 2 7121646 7121646 single base substitution A G intron_variant PACA-CA 2 7126394 7126394 single base substitution A T intron_variant PACA-CA 2 7127994 7127994 insertion of <=200bp - T intron_variant PACA-CA 2 7132571 7132571 single base substitution G A intron_variant PACA-CA 2 7132571 7132571 single base substitution G A upstream_gene_variant PACA-CA 2 7132661 7132661 single base substitution C G intron_variant PACA-CA 2 7132661 7132661 single base substitution C G upstream_gene_variant PACA-CA 2 7133128 7133128 single base substitution C A intron_variant PACA-CA 2 7133128 7133128 single base substitution C A upstream_gene_variant PACA-CA 2 7134893 7134893 single base substitution T C intron_variant PACA-CA 2 7134893 7134893 single base substitution T C upstream_gene_variant PACA-CA 2 7140890 7140890 insertion of <=200bp - A intron_variant PACA-CA 2 7140891 7140891 deletion of <=200bp A - intron_variant PACA-CA 2 7144758 7144758 single base substitution T A intron_variant PACA-CA 2 7146185 7146185 single base substitution G A intron_variant PACA-CA 2 7148792 7148792 single base substitution C T intron_variant PACA-CA 2 7150519 7150519 single base substitution G A intron_variant PACA-CA 2 7157073 7157073 single base substitution A G downstream_gene_variant PACA-CA 2 7157073 7157073 single base substitution A G intron_variant PACA-CA 2 7158040 7158040 single base substitution A G downstream_gene_variant PACA-CA 2 7158040 7158040 single base substitution A G intron_variant PACA-CA 2 7159589 7159589 single base substitution G C downstream_gene_variant PACA-CA 2 7159589 7159589 single base substitution G C intron_variant PACA-CA 2 7160492 7160492 single base substitution G T intron_variant PACA-CA 2 7162892 7162892 single base substitution G T downstream_gene_variant PACA-CA 2 7162892 7162892 single base substitution G T intron_variant PACA-CA 2 7163836 7163836 single base substitution G A downstream_gene_variant PACA-CA 2 7163836 7163836 single base substitution G A intron_variant PACA-CA 2 7164732 7164732 single base substitution A C downstream_gene_variant PACA-CA 2 7164732 7164732 single base substitution A C intron_variant PACA-CA 2 7164742 7164742 single base substitution G A downstream_gene_variant PACA-CA 2 7164742 7164742 single base substitution G A intron_variant PACA-CA 2 7168909 7168909 single base substitution C G downstream_gene_variant PACA-CA 2 7168909 7168909 single base substitution C G intron_variant PACA-CA 2 7169264 7169264 single base substitution G A downstream_gene_variant PACA-CA 2 7169264 7169264 single base substitution G A intron_variant PACA-CA 2 7169588 7169588 single base substitution G A intron_variant PACA-CA 2 7170579 7170579 single base substitution C T intron_variant PACA-CA 2 7174977 7174977 single base substitution C T intron_variant PACA-CA 2 7175374 7175374 single base substitution C T intron_variant PACA-CA 2 7176139 7176139 single base substitution C T intron_variant PACA-CA 2 7179351 7179351 single base substitution G A intron_variant PACA-CA 2 7182613 7182613 single base substitution C T 3_prime_UTR_variant PACA-CA 2 7182613 7182613 single base substitution C T downstream_gene_variant PACA-CA 2 7182613 7182613 single base substitution C T intron_variant PACA-CA 2 7183373 7183373 single base substitution C T 3_prime_UTR_variant PACA-CA 2 7183373 7183373 single base substitution C T downstream_gene_variant PACA-CA 2 7183373 7183373 single base substitution C T intron_variant PACA-CA 2 7183485 7183485 insertion of <=200bp - A 3_prime_UTR_variant PACA-CA 2 7183485 7183485 insertion of <=200bp - A downstream_gene_variant PACA-CA 2 7183485 7183485 insertion of <=200bp - A intron_variant PACA-CA 2 7184958 7184958 single base substitution A C downstream_gene_variant PACA-CA 2 7184958 7184958 single base substitution A C intron_variant PACA-CA 2 7187043 7187043 single base substitution C T downstream_gene_variant PACA-CA 2 7187043 7187043 single base substitution C T intron_variant PACA-CA 2 7187408 7187408 single base substitution A G downstream_gene_variant PACA-CA 2 7187408 7187408 single base substitution A G intron_variant PACA-CA 2 7188764 7188764 single base substitution T C downstream_gene_variant PACA-CA 2 7188764 7188764 single base substitution T C intron_variant PACA-CA 2 7193077 7193077 single base substitution T C intron_variant PACA-CA 2 7193283 7193283 single base substitution C T intron_variant PACA-CA 2 7194190 7194190 single base substitution C T intron_variant PACA-CA 2 7203325 7203325 single base substitution C T intron_variant PACA-CA 2 7206894 7206894 single base substitution G T intron_variant PACA-CA 2 7212795 7212795 single base substitution C A downstream_gene_variant PACA-CA 2 7212834 7212834 single base substitution T G downstream_gene_variant PAEN-AU 2 7082516 7082516 single base substitution C T intron_variant PAEN-AU 2 7117893 7117893 single base substitution G A intron_variant PAEN-AU 2 7117893 7117893 single base substitution G A upstream_gene_variant PAEN-AU 2 7133483 7133483 single base substitution G A intron_variant PAEN-AU 2 7133483 7133483 single base substitution G A upstream_gene_variant PAEN-AU 2 7161246 7161246 single base substitution A C downstream_gene_variant PAEN-AU 2 7161246 7161246 single base substitution A C intron_variant PAEN-IT 2 7058541 7058541 single base substitution T G intron_variant PAEN-IT 2 7063386 7063386 single base substitution A T intron_variant PAEN-IT 2 7092651 7092651 single base substitution C G intron_variant PBCA-DE 2 7072839 7072839 single base substitution A T intron_variant PBCA-DE 2 7072839 7072839 single base substitution A T upstream_gene_variant PBCA-DE 2 7072901 7072901 single base substitution G T intron_variant PBCA-DE 2 7072901 7072901 single base substitution G T upstream_gene_variant PBCA-DE 2 7074901 7074901 single base substitution G C intron_variant PBCA-DE 2 7091903 7091903 single base substitution C G intron_variant PBCA-DE 2 7096878 7096878 single base substitution G A intron_variant PBCA-DE 2 7098450 7098450 single base substitution G T intron_variant PBCA-DE 2 7101524 7101524 deletion of <=200bp T - intron_variant PBCA-DE 2 7123839 7123839 single base substitution T A intron_variant PBCA-DE 2 7132170 7132170 single base substitution G A intron_variant PBCA-DE 2 7132170 7132170 single base substitution G A upstream_gene_variant PBCA-DE 2 7137317 7137317 single base substitution G A intron_variant PBCA-DE 2 7140034 7140034 single base substitution G A intron_variant PBCA-DE 2 7147238 7147238 single base substitution C T intron_variant PBCA-DE 2 7159485 7159485 single base substitution T C downstream_gene_variant PBCA-DE 2 7159485 7159485 single base substitution T C intron_variant PBCA-DE 2 7170635 7170635 single base substitution G A intron_variant PBCA-DE 2 7180731 7180731 single base substitution C T 3_prime_UTR_variant PBCA-DE 2 7180731 7180731 single base substitution C T downstream_gene_variant PBCA-DE 2 7180731 7180731 single base substitution C T intron_variant PBCA-DE 2 7187468 7187468 single base substitution G T downstream_gene_variant PBCA-DE 2 7187468 7187468 single base substitution G T intron_variant PBCA-DE 2 7190553 7190553 single base substitution C T intron_variant PBCA-DE 2 7191304 7191304 single base substitution G A intron_variant PBCA-DE 2 7201148 7201148 deletion of <=200bp C - intron_variant PBCA-DE 2 7201613 7201613 insertion of <=200bp - T intron_variant PBCA-DE 2 7203256 7203256 single base substitution A G intron_variant PBCA-DE 2 7208584 7208584 single base substitution G C downstream_gene_variant PBCA-DE 2 7209698 7209698 single base substitution T C downstream_gene_variant PRAD-CA 2 7058132 7058132 single base substitution G T intron_variant PRAD-CA 2 7063148 7063148 single base substitution C T intron_variant PRAD-CA 2 7070828 7070828 single base substitution T A intron_variant PRAD-CA 2 7070828 7070828 single base substitution T A upstream_gene_variant PRAD-CA 2 7083849 7083849 single base substitution G A intron_variant PRAD-CA 2 7153713 7153713 single base substitution C T intron_variant PRAD-CA 2 7161647 7161647 single base substitution G A downstream_gene_variant PRAD-CA 2 7161647 7161647 single base substitution G A intron_variant PRAD-CA 2 7172476 7172476 single base substitution G C intron_variant PRAD-CA 2 7178467 7178467 single base substitution T C intron_variant PRAD-CA 2 7204398 7204398 single base substitution A G intron_variant PRAD-UK 2 7054312 7054312 single base substitution T A upstream_gene_variant PRAD-UK 2 7056937 7056937 single base substitution C T upstream_gene_variant PRAD-UK 2 7058064 7058064 single base substitution C G intron_variant PRAD-UK 2 7082451 7082451 single base substitution G A intron_variant PRAD-UK 2 7099326 7099326 single base substitution C T intron_variant PRAD-UK 2 7122479 7122479 single base substitution A G intron_variant PRAD-UK 2 7126100 7126100 single base substitution C T intron_variant PRAD-UK 2 7129621 7129621 single base substitution C G intron_variant PRAD-UK 2 7132153 7132153 insertion of <=200bp - A intron_variant PRAD-UK 2 7132153 7132153 insertion of <=200bp - A upstream_gene_variant PRAD-UK 2 7140495 7140495 single base substitution G A intron_variant PRAD-UK 2 7143808 7143808 single base substitution A G intron_variant PRAD-UK 2 7145844 7145844 deletion of <=200bp A - intron_variant PRAD-UK 2 7146546 7146546 single base substitution C T intron_variant PRAD-UK 2 7158292 7158292 single base substitution C G downstream_gene_variant PRAD-UK 2 7158292 7158292 single base substitution C G intron_variant PRAD-UK 2 7160816 7160816 single base substitution C A downstream_gene_variant PRAD-UK 2 7160816 7160816 single base substitution C A exon_variant PRAD-UK 2 7160816 7160816 single base substitution C A splice_region_variant PRAD-UK 2 7163888 7163888 single base substitution C G downstream_gene_variant PRAD-UK 2 7163888 7163888 single base substitution C G intron_variant PRAD-UK 2 7172154 7172154 single base substitution T A intron_variant PRAD-UK 2 7172220 7172220 single base substitution A G intron_variant PRAD-UK 2 7179741 7179741 single base substitution C G intron_variant PRAD-UK 2 7189955 7189955 single base substitution A G intron_variant PRAD-UK 2 7190570 7190570 single base substitution G A intron_variant PRAD-UK 2 7206215 7206222 deletion of <=200bp TTTTTTTT - intron_variant PRAD-US 2 7160686 7160686 single base substitution G A exon_variant PRAD-US 2 7160686 7160686 single base substitution G A synonymous_variant Q123Q 369G>A PRAD-US 2 7160686 7160686 single base substitution G A synonymous_variant Q128Q 384G>A RECA-EU 2 7064031 7064031 single base substitution C T intron_variant RECA-EU 2 7064963 7064963 single base substitution G A intron_variant RECA-EU 2 7071986 7071986 single base substitution G A intron_variant RECA-EU 2 7071986 7071986 single base substitution G A upstream_gene_variant RECA-EU 2 7071994 7071994 single base substitution C A intron_variant RECA-EU 2 7071994 7071994 single base substitution C A upstream_gene_variant RECA-EU 2 7081784 7081784 single base substitution A T intron_variant RECA-EU 2 7094294 7094294 single base substitution T A intron_variant RECA-EU 2 7097636 7097636 single base substitution C G intron_variant RECA-EU 2 7100893 7100893 single base substitution G T intron_variant RECA-EU 2 7103559 7103559 single base substitution T G intron_variant RECA-EU 2 7105554 7105554 single base substitution A T intron_variant RECA-EU 2 7113602 7113602 single base substitution C T intron_variant RECA-EU 2 7119033 7119033 single base substitution G A intron_variant RECA-EU 2 7119942 7119942 single base substitution G A intron_variant RECA-EU 2 7121551 7121551 single base substitution C T intron_variant RECA-EU 2 7125822 7125822 single base substitution G C intron_variant RECA-EU 2 7163009 7163009 single base substitution A G downstream_gene_variant RECA-EU 2 7163009 7163009 single base substitution A G intron_variant RECA-EU 2 7164289 7164289 single base substitution C A downstream_gene_variant RECA-EU 2 7164289 7164289 single base substitution C A intron_variant RECA-EU 2 7191003 7191003 single base substitution C G intron_variant RECA-EU 2 7205693 7205693 single base substitution A T intron_variant SKCA-BR 2 7052781 7052781 single base substitution G A upstream_gene_variant SKCA-BR 2 7053491 7053491 single base substitution T C upstream_gene_variant SKCA-BR 2 7054657 7054657 single base substitution C T upstream_gene_variant SKCA-BR 2 7054697 7054698 deletion of <=200bp CT - upstream_gene_variant SKCA-BR 2 7060529 7060529 single base substitution T G intron_variant SKCA-BR 2 7060741 7060741 single base substitution A G intron_variant SKCA-BR 2 7062962 7062962 single base substitution A G intron_variant SKCA-BR 2 7075187 7075187 single base substitution C T intron_variant SKCA-BR 2 7078381 7078382 deletion of <=200bp CT - intron_variant SKCA-BR 2 7082987 7082987 single base substitution T G intron_variant SKCA-BR 2 7088052 7088052 single base substitution G A intron_variant SKCA-BR 2 7093698 7093698 single base substitution C A intron_variant SKCA-BR 2 7098962 7098962 single base substitution C T intron_variant SKCA-BR 2 7104055 7104055 single base substitution C T intron_variant SKCA-BR 2 7107898 7107898 single base substitution G A intron_variant SKCA-BR 2 7109174 7109174 single base substitution A G intron_variant SKCA-BR 2 7110995 7110995 single base substitution C T intron_variant SKCA-BR 2 7112879 7112879 single base substitution C T intron_variant SKCA-BR 2 7112957 7112957 single base substitution G C intron_variant SKCA-BR 2 7118246 7118246 single base substitution C T intron_variant SKCA-BR 2 7118246 7118246 single base substitution C T upstream_gene_variant SKCA-BR 2 7118608 7118608 single base substitution C T intron_variant SKCA-BR 2 7118608 7118608 single base substitution C T upstream_gene_variant SKCA-BR 2 7118889 7118889 single base substitution C T 5_prime_UTR_variant SKCA-BR 2 7118889 7118889 single base substitution C T intron_variant SKCA-BR 2 7123749 7123749 single base substitution C T intron_variant SKCA-BR 2 7125399 7125403 deletion of <=200bp CTCTT - intron_variant SKCA-BR 2 7125439 7125439 single base substitution C T intron_variant SKCA-BR 2 7129433 7129433 insertion of <=200bp - AGACCT intron_variant SKCA-BR 2 7130128 7130128 single base substitution A G intron_variant SKCA-BR 2 7133427 7133427 single base substitution A G intron_variant SKCA-BR 2 7133427 7133427 single base substitution A G upstream_gene_variant SKCA-BR 2 7134214 7134214 single base substitution G A intron_variant SKCA-BR 2 7134214 7134214 single base substitution G A upstream_gene_variant SKCA-BR 2 7136748 7136748 single base substitution G A intron_variant SKCA-BR 2 7136748 7136748 single base substitution G A upstream_gene_variant SKCA-BR 2 7137621 7137621 single base substitution A G intron_variant SKCA-BR 2 7137840 7137840 insertion of <=200bp - GT intron_variant SKCA-BR 2 7139762 7139772 deletion of <=200bp CCCTGAGCAGG - intron_variant SKCA-BR 2 7141634 7141634 single base substitution C T intron_variant SKCA-BR 2 7148453 7148453 single base substitution T C intron_variant SKCA-BR 2 7150478 7150478 single base substitution T A intron_variant SKCA-BR 2 7150943 7150943 single base substitution C T intron_variant SKCA-BR 2 7152379 7152379 single base substitution C A intron_variant SKCA-BR 2 7152392 7152392 single base substitution A C intron_variant SKCA-BR 2 7153540 7153540 single base substitution T C intron_variant SKCA-BR 2 7155648 7155648 single base substitution T G downstream_gene_variant SKCA-BR 2 7155648 7155648 single base substitution T G intron_variant SKCA-BR 2 7157311 7157311 single base substitution A C downstream_gene_variant SKCA-BR 2 7157311 7157311 single base substitution A C intron_variant SKCA-BR 2 7157452 7157452 insertion of <=200bp - GTT downstream_gene_variant SKCA-BR 2 7157452 7157452 insertion of <=200bp - GTT intron_variant SKCA-BR 2 7160924 7160924 single base substitution C T downstream_gene_variant SKCA-BR 2 7160924 7160924 single base substitution C T intron_variant SKCA-BR 2 7167981 7167981 single base substitution A G downstream_gene_variant SKCA-BR 2 7167981 7167981 single base substitution A G intron_variant SKCA-BR 2 7170388 7170394 deletion of <=200bp CTGTGTG - intron_variant SKCA-BR 2 7171200 7171200 single base substitution A G intron_variant SKCA-BR 2 7172476 7172476 single base substitution G C intron_variant SKCA-BR 2 7173054 7173054 single base substitution C T intron_variant SKCA-BR 2 7173642 7173642 single base substitution T C intron_variant SKCA-BR 2 7177732 7177732 single base substitution G A intron_variant SKCA-BR 2 7181517 7181517 single base substitution T G 3_prime_UTR_variant SKCA-BR 2 7181517 7181517 single base substitution T G downstream_gene_variant SKCA-BR 2 7181517 7181517 single base substitution T G intron_variant SKCA-BR 2 7184594 7184594 single base substitution C T downstream_gene_variant SKCA-BR 2 7184594 7184594 single base substitution C T intron_variant SKCA-BR 2 7184595 7184595 single base substitution C T downstream_gene_variant SKCA-BR 2 7184595 7184595 single base substitution C T intron_variant SKCA-BR 2 7187802 7187802 single base substitution A G downstream_gene_variant SKCA-BR 2 7187802 7187802 single base substitution A G intron_variant SKCA-BR 2 7188034 7188034 single base substitution T G downstream_gene_variant SKCA-BR 2 7188034 7188034 single base substitution T G intron_variant SKCA-BR 2 7194880 7194880 single base substitution A C intron_variant SKCA-BR 2 7196513 7196513 single base substitution C T intron_variant SKCA-BR 2 7201567 7201567 single base substitution C T intron_variant SKCA-BR 2 7205535 7205535 single base substitution T G intron_variant SKCA-BR 2 7205550 7205550 single base substitution A G intron_variant SKCA-BR 2 7205556 7205556 single base substitution T G intron_variant SKCA-BR 2 7206218 7206218 single base substitution T A intron_variant SKCA-BR 2 7208244 7208244 single base substitution C T intron_variant SKCA-BR 2 7212137 7212137 single base substitution C T downstream_gene_variant SKCM-US 2 7137194 7137194 single base substitution T G intron_variant SKCM-US 2 7137194 7137194 single base substitution T G splice_donor_variant SKCM-US 2 7154674 7154674 single base substitution C T downstream_gene_variant SKCM-US 2 7154674 7154674 single base substitution C T exon_variant SKCM-US 2 7154674 7154674 single base substitution C T intron_variant SKCM-US 2 7154674 7154674 single base substitution C T synonymous_variant H70H 210C>T SKCM-US 2 7154674 7154674 single base substitution C T synonymous_variant H75H 225C>T SKCM-US 2 7160794 7160794 single base substitution C T downstream_gene_variant SKCM-US 2 7160794 7160794 single base substitution C T exon_variant SKCM-US 2 7160794 7160794 single base substitution C T synonymous_variant F159F 477C>T SKCM-US 2 7160794 7160794 single base substitution C T synonymous_variant F164F 492C>T SKCM-US 2 7179793 7179793 single base substitution C T downstream_gene_variant SKCM-US 2 7179793 7179793 single base substitution C T intron_variant SKCM-US 2 7179793 7179793 single base substitution C T missense_variant L261F 781C>T SKCM-US 2 7179829 7179829 single base substitution C T downstream_gene_variant SKCM-US 2 7179829 7179829 single base substitution C T intron_variant SKCM-US 2 7179829 7179829 single base substitution C T missense_variant P273S 817C>T STAD-US 2 7137076 7137076 single base substitution C T exon_variant STAD-US 2 7137076 7137076 single base substitution C T intron_variant STAD-US 2 7137076 7137076 single base substitution C T missense_variant R2W 4C>T STAD-US 2 7137076 7137076 single base substitution C T missense_variant R7W 19C>T STAD-US 2 7137188 7137188 single base substitution C T exon_variant STAD-US 2 7137188 7137188 single base substitution C T intron_variant STAD-US 2 7137188 7137188 single base substitution C T missense_variant T39I 116C>T STAD-US 2 7137188 7137188 single base substitution C T missense_variant T44I 131C>T STAD-US 2 7160688 7160688 insertion of <=200bp - C exon_variant STAD-US 2 7160688 7160688 insertion of <=200bp - C frameshift_variant T124T? STAD-US 2 7160688 7160688 insertion of <=200bp - C frameshift_variant T129T? STAD-US 2 7164594 7164594 single base substitution A G downstream_gene_variant STAD-US 2 7164594 7164594 single base substitution A G exon_variant STAD-US 2 7164594 7164594 single base substitution A G missense_variant M197V 589A>G STAD-US 2 7164594 7164594 single base substitution A G missense_variant M202V 604A>G STAD-US 2 7170255 7170255 single base substitution A G splice_acceptor_variant STAD-US 2 7170296 7170296 single base substitution C T exon_variant STAD-US 2 7170296 7170296 single base substitution C T missense_variant R228W 682C>T STAD-US 2 7170296 7170296 single base substitution C T missense_variant R233W 697C>T STAD-US 2 7179767 7179767 single base substitution G A exon_variant STAD-US 2 7179767 7179767 single base substitution G A intron_variant STAD-US 2 7179767 7179767 single base substitution G A missense_variant G252D 755G>A STAD-US 2 7179884 7179884 single base substitution C A downstream_gene_variant STAD-US 2 7179884 7179884 single base substitution C A intron_variant STAD-US 2 7179884 7179884 single base substitution C A missense_variant P291H 872C>A UCEC-US 2 7154616 7154618 deletion of <=200bp AAG - downstream_gene_variant UCEC-US 2 7154616 7154618 deletion of <=200bp AAG - exon_variant UCEC-US 2 7154616 7154618 deletion of <=200bp AAG - inframe_deletion KE51K UCEC-US 2 7154616 7154618 deletion of <=200bp AAG - inframe_deletion KE56K UCEC-US 2 7154616 7154618 deletion of <=200bp AAG - intron_variant UCEC-US 2 7154680 7154680 single base substitution G T downstream_gene_variant UCEC-US 2 7154680 7154680 single base substitution G T exon_variant UCEC-US 2 7154680 7154680 single base substitution G T intron_variant UCEC-US 2 7154680 7154680 single base substitution G T missense_variant Q72H 216G>T UCEC-US 2 7154680 7154680 single base substitution G T missense_variant Q77H 231G>T UCEC-US 2 7154890 7154890 single base substitution A G downstream_gene_variant UCEC-US 2 7154890 7154890 single base substitution A G exon_variant UCEC-US 2 7154890 7154890 single base substitution A G intron_variant UCEC-US 2 7154890 7154890 single base substitution A G synonymous_variant L91L 273A>G UCEC-US 2 7154890 7154890 single base substitution A G synonymous_variant L96L 288A>G UCEC-US 2 7154897 7154897 single base substitution G T downstream_gene_variant UCEC-US 2 7154897 7154897 single base substitution G T exon_variant UCEC-US 2 7154897 7154897 single base substitution G T intron_variant UCEC-US 2 7154897 7154897 single base substitution G T stop_gained E94* 280G>T UCEC-US 2 7154897 7154897 single base substitution G T stop_gained E99* 295G>T UCEC-US 2 7160723 7160723 single base substitution G A downstream_gene_variant UCEC-US 2 7160723 7160723 single base substitution G A exon_variant UCEC-US 2 7160723 7160723 single base substitution G A missense_variant E136K 406G>A UCEC-US 2 7160723 7160723 single base substitution G A missense_variant E141K 421G>A UCEC-US 2 7179799 7179799 single base substitution G A downstream_gene_variant UCEC-US 2 7179799 7179799 single base substitution G A intron_variant UCEC-US 2 7179799 7179799 single base substitution G A missense_variant V263M 787G>A

Mutation - COSMIC Sample Name Mutation ID Mutation CDS Mutation AA Mutation Description Mutation Genome Position Mutation Strand TCGA-34-2600-01 COSM721938 c.154G>A p.E52K Substitution - Missense 2:7014472-7014472 + 169 COSM3729880 c.757_758insT p.A255fs*30 Insertion - Frameshift 2:7039638-7039639 + 0035_CRUK_PC_0035_T1_DNA COSM5423207 c.509+5C>A p.? Unknown 2:7020685-7020685 + 1N05-VS-1T05 COSM4972859 c.234G>A p.E78E Substitution - coding silent 2:7014552-7014552 + Pat_28_B COSM5862794 c.529G>A p.E177K Substitution - Missense 2:7024388-7024388 + T11 COSM5617772 c.10A>G p.T4A Substitution - Missense 2:6996936-6996936 + TCGA-EE-A2MD-06 COSM3582910 c.225C>T p.H75H Substitution - coding silent 2:7014543-7014543 + TCGA-13-0897-01 COSM81663 c.13A>C p.R5R Substitution - coding silent 2:6996939-6996939 + TCGA-66-2786-01 COSM721937 c.179A>T p.E60V Substitution - Missense 2:7014497-7014497 + 2492725 COSM5724632 c.389C>T p.P130L Substitution - Missense 2:7020560-7020560 + TCGA-HC-8262-01 COSM4392642 c.384G>A p.Q128Q Substitution - coding silent 2:7020555-7020555 + TCGA-BR-8368-01 COSM4095417 c.19C>T p.R7W Substitution - Missense 2:6996945-6996945 + TCGA-BS-A0UV-01 COSM1022618 c.295G>T p.E99* Substitution - Nonsense 2:7014766-7014766 + SNUH_G76_S1 COSM3758343 c.588A>G p.E196E Substitution - coding silent 2:7024447-7024447 + TCGA-HT-7694-01 COSM3972334 c.523A>G p.M175V Substitution - Missense 2:7024382-7024382 + ESO-0292 COSM1241678 c.71T>C p.L24P Substitution - Missense 2:6996997-6996997 + TCGA-D9-A6EA-06 COSM721927 c.492C>T p.F164F Substitution - coding silent 2:7020663-7020663 + TCGA-EB-A3Y7-01 COSM3582998 c.781C>T p.L261F Substitution - Missense 2:7039662-7039662 + S01453 COSM314838 c.853G>T p.G285C Substitution - Missense 2:7039734-7039734 + TCGA-BS-A0TD-01 COSM1022637 c.470C>G p.P157R Substitution - Missense 2:7020641-7020641 + T33 COSM5344253 c.858C>T p.D286D Substitution - coding silent 2:7039739-7039739 + sysucc-783T COSM5484560 c.240+7G>A p.? Unknown 2:7014565-7014565 + 587234 COSM1223906 c.580C>T p.R194* Substitution - Nonsense 2:7024439-7024439 + TCGA-06-2558-01 COSM3407957 c.283A>G p.K95E Substitution - Missense 2:7014754-7014754 + HCC004T COSM5803313 c.645G>C p.L215L Substitution - coding silent 2:7024504-7024504 + CSCC-16-T COSM4508498 c.778C>A p.L260M Substitution - Missense 2:7039659-7039659 + T3446 COSM4722000 c.687G>T p.K229N Substitution - Missense 2:7030155-7030155 + Pat_16_B COSM5862796 c.719G>A p.R240Q Substitution - Missense 2:7030187-7030187 + TCGA-AP-A0LM-01 COSM1022635 c.421G>A p.E141K Substitution - Missense 2:7020592-7020592 + CCK81 COSM2997467 c.539C>T p.A180V Substitution - Missense 2:7024398-7024398 + sysucc-1237T COSM5764532 c.378G>A p.G126G Substitution - coding silent 2:7020549-7020549 + 2492726 COSM5724632 c.389C>T p.P130L Substitution - Missense 2:7020560-7020560 + T3225 COSM4721997 c.322C>T p.R108W Substitution - Missense 2:7020493-7020493 + Gp5D COSM2997523 c.730A>G p.I244V Substitution - Missense 2:7030198-7030198 + TCGA-BG-A0LX-01 COSM1022675 c.787G>A p.V263M Substitution - Missense 2:7039668-7039668 + Au4 COSM721927 c.492C>T p.F164F Substitution - coding silent 2:7020663-7020663 + TCGA-BP-4345-01 COSM3364814 c.410C>A p.A137D Substitution - Missense 2:7020581-7020581 + 699_T COSM3963025 c.655G>T p.D219Y Substitution - Missense 2:7024514-7024514 + TCGA-39-5019-01 COSM721943 c.14G>C p.R5T Substitution - Missense 2:6996940-6996940 + TCGA-D9-A6EC-06 COSM4405574 c.817C>T p.P273S Substitution - Missense 2:7039698-7039698 + TCGA-BT-A2LA-01 COSM1306966 c.482C>G p.P161R Substitution - Missense 2:7020653-7020653 + TCGA-AP-A056-01 COSM1022616 c.288A>G p.L96L Substitution - coding silent 2:7014759-7014759 + TCGA-BS-A0U7-01 COSM1022612 c.184G>T p.A62S Substitution - Missense 2:7014502-7014502 + WA27 COSM241435 c.415C>T p.R139C Substitution - Missense 2:7020586-7020586 + J90_T COSM3963023 c.377G>C p.G126A Substitution - Missense 2:7020548-7020548 + SJRHB036A COSM3737628 c.878A>G p.*293W Nonstop extension 2:7039759-7039759 + TCGA-BR-6452-01 COSM4095418 c.131C>T p.T44I Substitution - Missense 2:6997057-6997057 + VACO4S COSM4657241 c.710G>A p.G237D Substitution - Missense 2:7030178-7030178 + TCGA-D9-A6EC-06 COSM4402531 c.135+2T>G p.? Unknown 2:6997063-6997063 + TCGA-66-2756-01 COSM721936 c.301G>C p.E101Q Substitution - Missense 2:7014772-7014772 + PD1768a COSM26594 c.410C>T p.A137V Substitution - Missense 2:7020581-7020581 + ESCC_BICR_045T COSM5441705 c.141G>A p.L47L Substitution - coding silent 2:7014459-7014459 + TCGA-BR-8361-01 COSM4095495 c.755G>A p.G252D Substitution - Missense 2:7039636-7039636 + Pat_44_B COSM5862795 c.586G>A p.E196K Substitution - Missense 2:7024445-7024445 + TCGA-BR-8680-01 COSM4095496 c.872C>A p.P291H Substitution - Missense 2:7039753-7039753 + T2578 COSM4721998 c.373G>A p.V125M Substitution - Missense 2:7020544-7020544 + OSCC-GB_01040111 COSM4886004 c.648G>T p.E216D Substitution - Missense 2:7024507-7024507 + TCGA-43-3394-01 COSM721941 c.112T>C p.C38R Substitution - Missense 2:6997038-6997038 + LUAD-RT-S01813 COSM383250 c.807C>T p.L269L Substitution - coding silent 2:7039688-7039688 + TCGA-18-3409-01 COSM721927 c.492C>T p.F164F Substitution - coding silent 2:7020663-7020663 + TCGA-AM-5821-01 COSM3758343 c.588A>G p.E196E Substitution - coding silent 2:7024447-7024447 + CSCC-56-T COSM4504485 c.666C>T p.F222F Substitution - coding silent 2:7030134-7030134 + TCGA-22-1016-01 COSM721926 c.563G>T p.C188F Substitution - Missense 2:7024422-7024422 + 2492724 COSM5724632 c.389C>T p.P130L Substitution - Missense 2:7020560-7020560 + YUWALI COSM1690183 c.431C>T p.S144F Substitution - Missense 2:7020602-7020602 + AOCS-055-1-7 COSM4141223 c.232G>A p.E78K Substitution - Missense 2:7014550-7014550 + TCGA-CG-5721-01 COSM4095458 c.697C>T p.R233W Substitution - Missense 2:7030165-7030165 + Detroit_562 COSM4595203 c.183T>C p.T61T Substitution - coding silent sysucc-1024T COSM5617772 c.10A>G p.T4A Substitution - Missense 2:6996936-6996936 + T3225 COSM4721999 c.416G>A p.R139H Substitution - Missense 2:7020587-7020587 + 308_T COSM3963021 c.276A>G p.R92R Substitution - coding silent 2:7014747-7014747 + TCGA-D1-A176-01 COSM1022610 c.167_169delAAG p.E57delE Deletion - In frame 2:7014485-7014487 + TCGA-BR-4256-01 COSM4095457 c.658-2A>G p.? Unknown 2:7030124-7030124 + TCGA-CZ-5470-01 COSM477613 c.583G>C p.D195H Substitution - Missense 2:7024442-7024442 + TCGA-BR-7707-01 COSM4095451 c.604A>G p.M202V Substitution - Missense 2:7024463-7024463 + TCGA-AR-A1AQ-01 COSM443173 c.751G>A p.V251M Substitution - Missense 2:7039632-7039632 + LUAD-D01382 COSM337110 c.661G>A p.D221N Substitution - Missense 2:7030129-7030129 + S01453 COSM314838 c.853G>T p.G285C Substitution - Missense 2:7039734-7039734 + T263 COSM4721996 c.172G>T p.G58* Substitution - Nonsense 2:7014490-7014490 + 4000_T COSM3963022 c.324G>T p.R108R Substitution - coding silent 2:7020495-7020495 + C086 COSM5538288 c.741G>A p.R247R Substitution - coding silent 2:7030209-7030209 + TCGA-AP-A059-01 COSM1022614 c.231G>T p.Q77H Substitution - Missense 2:7014549-7014549 + TCGA-34-5236-01 COSM575972 c.47C>T p.P16L Substitution - Missense 2:6996973-6996973 + TCGA-C8-A12W-01 COSM3839934 c.597G>A p.A199A Substitution - coding silent 2:7024456-7024456 + ESO-2472 COSM1264343 c.42C>T p.L14L Substitution - coding silent 2:6996968-6996968 + tumor_4101316 COSM3357608 c.438C>A p.C146* Substitution - Nonsense 2:7020609-7020609 +

Mutation - CGAP UNIGENE CYTOBAND OMIM SNP Hs.22146 2p25.2

Mutation - IntOGen Mutated from(ref) Mutated to(alt) Consequence Type AA Mutation CDS Mutation Chr Pos Cancer AAG - InFrameDeletion p.E57delE c.170_172delAAG 2 7154616 UCEC A C Synonymous p.R5R c.13A>C 2 7137070 OV A G Missense p.K95E c.283A>G 2 7154885 GBM A G Missense p.M175V c.523A>G 2 7164513 LGG A G SpliceAcceptorSNV . c.658-2A>G 2 7170255 STAD A T Missense p.E60V c.179A>T 2 7154628 LUSC C A IntronicSNV . c.1-29454C>A 2 7107604 CLL C A Missense p.A137D c.410C>A 2 7160712 RCCC C A Nonsense p.C146* c.438C>A 2 7160740 DLBCL C A Synonymous p.P166P c.498C>A 2 7160800 CM C G Missense p.P161R c.482C>G 2 7160784 BLCA C T 3-UTRSNV . c.876+3344C>T 2 7183232 HC C T 3-UTRSNV . c.876+843C>T 2 7180731 MB C T IntronicSNV . c.1-38621C>T 2 7098437 CLL C T IntronicSNV . c.509+1406C>T 2 7162217 CLL C T Missense p.A199V c.596C>T 2 7164586 STAD C T Missense p.P16L c.47C>T 2 7137104 LUAD C T Missense p.P16L c.47C>T 2 7137104 LUSC C T Synonymous p.C188C c.564C>T 2 7164554 LUAD C T Synonymous p.H75H c.225C>T 2 7154674 CM C T Synonymous p.L14L c.42C>T 2 7137099 ESCA G A Missense p.D221N c.661G>A 2 7170260 LUAD G A Missense p.E52K c.154G>A 2 7154603 LUSC G A Missense p.V251M c.751G>A 2 7179763 BRCA G A Missense p.V263M c.787G>A 2 7179799 UCEC G A Synonymous p.Q128Q c.384G>A 2 7160686 PRAD G C Missense p.D195H c.583G>C 2 7164573 RCCC G C Missense p.E101Q c.301G>C 2 7154903 LUSC G C Missense p.R5T c.14G>C 2 7137071 LUSC GG TT Missense p.G25V c.74_75delinsTT 2 7137131 HNSC G T Missense p.C188F c.563G>T 2 7164553 LUSC G T Missense p.C203F c.608G>T 2 7164598 LUAD G T Missense p.E82D c.246G>T 2 7154848 LUAD G T Missense p.G252C c.754G>T 2 7179766 CM G T Missense p.G285C c.853G>T 2 7179865 SCLC - TCCCCCCCCC IntronicInsertion . c.1-47534_1-47533insTCCCCCCCCC 2 7089524 CLL - TCCCCCCCCC IntronicInsertion . c.1-47544_1-47543insTCCCCCCCCC 2 7089514 CLL T C IntronicSNV . c.1-6823T>C 2 7130235 CLL T C Missense p.C146R c.436T>C 2 7160738 CM T C Missense p.C38R c.112T>C 2 7137169 LUSC