Mutation - TCGA Type Chromosome Start Position End Position Strand Variant Classification Variant Type Reference Allele Tumor_seq Allele 1 Tumor_seq Allele 2 Tumor Sample Barcode Matched Norm Sample Barcode Genome Change cDNA Change Codon Change Protein Change BLCA 6 106634469 106634469 + Silent SNP C C G TCGA-MV-A51V-01A-11D-A26M-08 TCGA-MV-A51V-10A-01D-A26K-08 g.chr6:106634469C>G c.774G>C c.(772-774)ctG>ctC p.L258L BLCA 6 106649864 106649864 + Missense_Mutation SNP G G A TCGA-DK-A1AC-01A-11D-A13W-08 TCGA-DK-A1AC-10A-01D-A13W-08 g.chr6:106649864G>A c.674C>T c.(673-675)tCt>tTt p.S225F BLCA 6 106727548 106727548 + Missense_Mutation SNP C C T TCGA-K4-AAQO-01A-11D-A38G-08 TCGA-K4-AAQO-10A-01D-A38J-08 g.chr6:106727548C>T c.466G>A c.(466-468)Gga>Aga p.G156R BLCA 6 106756353 106756353 + Missense_Mutation SNP C C T TCGA-DK-AA76-01A-11D-A391-08 TCGA-DK-AA76-10A-01D-A394-08 g.chr6:106756353C>T c.122G>A c.(121-123)aGa>aAa p.R41K BRCA 6 106649944 106649944 + Silent SNP G G A TCGA-E9-A1NF-01A-11D-A14G-09 TCGA-E9-A1NF-10A-01D-A14G-09 g.chr6:106649944G>A c.594C>T c.(592-594)ttC>ttT p.F198F BRCA 6 106649958 106649958 + Missense_Mutation SNP T T A TCGA-E9-A3HO-01A-11D-A20S-09 TCGA-E9-A3HO-10A-02D-A20S-09 g.chr6:106649958T>A c.580A>T c.(580-582)Act>Tct p.T194S BRCA 6 106649961 106649961 + Missense_Mutation SNP T T A TCGA-E9-A3HO-01A-11D-A20S-09 TCGA-E9-A3HO-10A-02D-A20S-09 g.chr6:106649961T>A c.577A>T c.(577-579)Acg>Tcg p.T193S BRCA 6 106740932 106740932 + Missense_Mutation SNP G G C TCGA-A2-A0SY-01A-31D-A099-09 TCGA-A2-A0SY-10A-01D-A099-09 g.chr6:106740932G>C c.286C>G c.(286-288)Ctt>Gtt p.L96V CESC 6 106727617 106727617 + Missense_Mutation SNP C C T TCGA-Q1-A73O-01A-11D-A32I-09 TCGA-Q1-A73O-10B-01D-A32I-09 g.chr6:106727617C>T c.397G>A c.(397-399)Gat>Aat p.D133N COAD 6 106634450 106634450 + Missense_Mutation SNP G G T TCGA-AA-3977-01A-01W-0995-10 TCGA-AA-3977-10A-01W-0999-10 g.chr6:106634450G>T c.793C>A c.(793-795)Ctt>Att p.L265I COAD 6 106649850 106649850 + Missense_Mutation SNP C C T TCGA-AA-A017-01A-01W-A00E-09 TCGA-AA-A017-10A-01W-A00E-09 g.chr6:106649850C>T c.688G>A c.(688-690)Gaa>Aaa p.E230K COAD 6 106756302 106756302 + Missense_Mutation SNP T T C TCGA-AY-6197-01A-11D-1719-10 TCGA-AY-6197-10A-01D-1719-10 g.chr6:106756302T>C c.173A>G c.(172-174)aAg>aGg p.K58R COAD 6 106756302 106756302 + Missense_Mutation SNP T T C TCGA-CK-6746-01A-11D-1835-10 TCGA-CK-6746-10A-01D-1835-10 g.chr6:106756302T>C c.173A>G c.(172-174)aAg>aGg p.K58R COAD 6 106756302 106756302 + Missense_Mutation SNP T T C TCGA-CM-4744-01A-01D-1408-10 TCGA-CM-4744-10A-01D-1408-10 g.chr6:106756302T>C c.173A>G c.(172-174)aAg>aGg p.K58R COAD 6 106756302 106756302 + Missense_Mutation SNP T T C TCGA-D5-6532-01A-11D-1719-10 TCGA-D5-6532-10A-01D-1719-10 g.chr6:106756302T>C c.173A>G c.(172-174)aAg>aGg p.K58R COAD 6 106756302 106756302 + Missense_Mutation SNP T T C TCGA-D5-6929-01A-31D-1924-10 TCGA-D5-6929-10A-01D-1924-10 g.chr6:106756302T>C c.173A>G c.(172-174)aAg>aGg p.K58R COAD 6 106756303 106756303 + Missense_Mutation SNP T T C TCGA-D5-6540-01A-11D-1719-10 TCGA-D5-6540-10A-01D-1719-10 g.chr6:106756303T>C c.172A>G c.(172-174)Aag>Gag p.K58E COAD 6 106764068 106764068 + Missense_Mutation SNP C C A TCGA-AA-3977-01A-01W-0995-10 TCGA-AA-3977-10A-01W-0999-10 g.chr6:106764068C>A c.16G>T c.(16-18)Gat>Tat p.D6Y COADREAD 6 106634450 106634450 + Missense_Mutation SNP G G T TCGA-AA-3977-01A-01W-0995-10 TCGA-AA-3977-10A-01W-0999-10 g.chr6:106634450G>T c.793C>A c.(793-795)Ctt>Att p.L265I COADREAD 6 106649850 106649850 + Missense_Mutation SNP C C T TCGA-AA-A017-01A-01W-A00E-09 TCGA-AA-A017-10A-01W-A00E-09 g.chr6:106649850C>T c.688G>A c.(688-690)Gaa>Aaa p.E230K COADREAD 6 106727584 106727584 + Nonsense_Mutation SNP C C A TCGA-AG-A002-01A-01W-A00K-09 TCGA-AG-A002-10A-01W-A00K-09 g.chr6:106727584C>A c.430G>T c.(430-432)Gaa>Taa p.E144* COADREAD 6 106756302 106756302 + Missense_Mutation SNP T T C TCGA-AY-6197-01A-11D-1719-10 TCGA-AY-6197-10A-01D-1719-10 g.chr6:106756302T>C c.173A>G c.(172-174)aAg>aGg p.K58R COADREAD 6 106756302 106756302 + Missense_Mutation SNP T T C TCGA-CK-6746-01A-11D-1835-10 TCGA-CK-6746-10A-01D-1835-10 g.chr6:106756302T>C c.173A>G c.(172-174)aAg>aGg p.K58R COADREAD 6 106756302 106756302 + Missense_Mutation SNP T T C TCGA-CM-4744-01A-01D-1408-10 TCGA-CM-4744-10A-01D-1408-10 g.chr6:106756302T>C c.173A>G c.(172-174)aAg>aGg p.K58R COADREAD 6 106756302 106756302 + Missense_Mutation SNP T T C TCGA-D5-6532-01A-11D-1719-10 TCGA-D5-6532-10A-01D-1719-10 g.chr6:106756302T>C c.173A>G c.(172-174)aAg>aGg p.K58R COADREAD 6 106756302 106756302 + Missense_Mutation SNP T T C TCGA-D5-6929-01A-31D-1924-10 TCGA-D5-6929-10A-01D-1924-10 g.chr6:106756302T>C c.173A>G c.(172-174)aAg>aGg p.K58R COADREAD 6 106756303 106756303 + Missense_Mutation SNP T T C TCGA-D5-6540-01A-11D-1719-10 TCGA-D5-6540-10A-01D-1719-10 g.chr6:106756303T>C c.172A>G c.(172-174)Aag>Gag p.K58E COADREAD 6 106764068 106764068 + Missense_Mutation SNP C C A TCGA-AA-3977-01A-01W-0995-10 TCGA-AA-3977-10A-01W-0999-10 g.chr6:106764068C>A c.16G>T c.(16-18)Gat>Tat p.D6Y ESCA 6 106649888 106649888 + Missense_Mutation SNP T T A TCGA-L5-A4OM-01A-11D-A27G-09 TCGA-L5-A4OM-11A-11D-A27G-09 g.chr6:106649888T>A c.650A>T c.(649-651)gAt>gTt p.D217V ESCA 6 106740953 106740953 + Missense_Mutation SNP G G T TCGA-JY-A6FE-01A-11D-A33E-09 TCGA-JY-A6FE-10A-01D-A33H-09 g.chr6:106740953G>T c.265C>A c.(265-267)Ctt>Att p.L89I ESCA 6 106756264 106756264 + Missense_Mutation SNP C C G TCGA-VR-AA7B-01A-31D-A403-09 TCGA-VR-AA7B-10A-01D-A403-09 g.chr6:106756264C>G c.211G>C c.(211-213)Gaa>Caa p.E71Q GBM 6 106764059 106764059 + Nonsense_Mutation SNP G G A TCGA-06-2562-01A-01D-1494-08 TCGA-06-2562-10A-01D-1494-08 g.chr6:106764059G>A c.25C>T c.(25-27)Cga>Tga p.R9* GBMLGG 6 106727551 106727551 + Missense_Mutation SNP T T C TCGA-DU-7304-01A-12D-2086-08 TCGA-DU-7304-10A-01D-2086-08 g.chr6:106727551T>C c.463A>G c.(463-465)Atg>Gtg p.M155V GBMLGG 6 106764041 106764041 + Nonsense_Mutation SNP G G A TCGA-CS-5390-01A-02D-1468-08 TCGA-CS-5390-10A-01D-1468-08 g.chr6:106764041G>A c.43C>T c.(43-45)Cga>Tga p.R15* GBMLGG 6 106764059 106764059 + Nonsense_Mutation SNP G G A TCGA-06-2562-01A-01D-1494-08 TCGA-06-2562-10A-01D-1494-08 g.chr6:106764059G>A c.25C>T c.(25-27)Cga>Tga p.R9* GBMLGG 6 106764059 106764059 + Nonsense_Mutation SNP G G A TCGA-DU-6404-01A-11D-1705-08 TCGA-DU-6404-10A-01D-1705-08 g.chr6:106764059G>A c.25C>T c.(25-27)Cga>Tga p.R9* LGG 6 106727551 106727551 + Missense_Mutation SNP T T C TCGA-DU-7304-01A-12D-2086-08 TCGA-DU-7304-10A-01D-2086-08 g.chr6:106727551T>C c.463A>G c.(463-465)Atg>Gtg p.M155V LGG 6 106764041 106764041 + Nonsense_Mutation SNP G G A TCGA-CS-5390-01A-02D-1468-08 TCGA-CS-5390-10A-01D-1468-08 g.chr6:106764041G>A c.43C>T c.(43-45)Cga>Tga p.R15* LGG 6 106764059 106764059 + Nonsense_Mutation SNP G G A TCGA-DU-6404-01A-11D-1705-08 TCGA-DU-6404-10A-01D-1705-08 g.chr6:106764059G>A c.25C>T c.(25-27)Cga>Tga p.R9* LIHC 6 106634468 106634468 + Missense_Mutation SNP T T G TCGA-MI-A75E-01A-11D-A32G-10 TCGA-MI-A75E-10A-01D-A32G-10 g.chr6:106634468T>G c.775A>C c.(775-777)Agc>Cgc p.S259R LIHC 6 106634473 106634473 + Missense_Mutation SNP T T C TCGA-MI-A75E-01A-11D-A32G-10 TCGA-MI-A75E-10A-01D-A32G-10 g.chr6:106634473T>C c.770A>G c.(769-771)cAt>cGt p.H257R LIHC 6 106727570 106727570 + Frame_Shift_Del DEL T T - TCGA-DD-A1EG-01A-11D-A20W-10 TCGA-DD-A1EG-10A-01D-A20W-10 g.chr6:106727570delT c.444delA c.(442-444)aaafs p.K148fs LIHC 6 106740950 106740951 + Missense_Mutation DNP GA GA AT TCGA-ZS-A9CD-01A-11D-A36X-10 TCGA-ZS-A9CD-10A-01D-A370-10 g.chr6:106740950_106740951GA>AT c.267_268TC>AT c.(265-270)ctTCtt>ctATtt p.L90F LIHC 6 106764056 106764058 + In_Frame_Del DEL CTC CTC - TCGA-5R-AA1C-01A-11D-A40R-10 TCGA-5R-AA1C-10A-01D-A40U-10 g.chr6:106764056_106764058delCTC c.26_28delGAG c.(25-30)cgagat>cat p.9_10RD>H LUAD 6 106727555 106727555 + Silent SNP G G A TCGA-78-7147-01A-11D-2036-08 TCGA-78-7147-10A-01D-2036-08 g.chr6:106727555G>A c.459C>T c.(457-459)ctC>ctT p.L153L LUAD 6 106727584 106727584 + Missense_Mutation SNP C C G TCGA-55-A4DF-01A-11D-A24D-08 TCGA-55-A4DF-10A-01D-A24F-08 g.chr6:106727584C>G c.430G>C c.(430-432)Gaa>Caa p.E144Q LUAD 6 106727644 106727644 + Missense_Mutation SNP G G A TCGA-55-8510-01A-11D-2393-08 TCGA-55-8510-10A-01D-2393-08 g.chr6:106727644G>A c.370C>T c.(370-372)Cat>Tat p.H124Y LUAD 6 106756347 106756347 + Missense_Mutation SNP C C A TCGA-86-8585-01A-11D-2393-08 TCGA-86-8585-10A-01D-2393-08 g.chr6:106756347C>A c.128G>T c.(127-129)aGt>aTt p.S43I PRAD 6 106727655 106727655 + Missense_Mutation SNP G G A TCGA-XK-AAIW-01A-11D-A41K-08 TCGA-XK-AAIW-10A-01D-A41N-08 g.chr6:106727655G>A c.359C>T c.(358-360)gCa>gTa p.A120V PRAD 6 106764041 106764041 + Nonsense_Mutation SNP G G A TCGA-EJ-5512-01A-01D-1576-08 TCGA-EJ-5512-10A-01D-1577-08 g.chr6:106764041G>A c.43C>T c.(43-45)Cga>Tga p.R15* READ 6 106727584 106727584 + Nonsense_Mutation SNP C C A TCGA-AG-A002-01A-01W-A00K-09 TCGA-AG-A002-10A-01W-A00K-09 g.chr6:106727584C>A c.430G>T c.(430-432)Gaa>Taa p.E144* SARC 6 106696116 106696116 + Missense_Mutation SNP C C A TCGA-SG-A6Z4-01A-22D-A33E-09 TCGA-SG-A6Z4-10A-01D-A33H-09 g.chr6:106696116C>A c.482G>T c.(481-483)aGa>aTa p.R161I SKCM 6 106696051 106696051 + Missense_Mutation SNP G G A TCGA-EE-A2GP-06A-11D-A197-08 TCGA-EE-A2GP-10A-01D-A199-08 g.chr6:106696051G>A c.547C>T c.(547-549)Cgt>Tgt p.R183C SKCM 6 106740973 106740973 + Missense_Mutation SNP G G A TCGA-EE-A2GB-06A-11D-A197-08 TCGA-EE-A2GB-10A-01D-A199-08 g.chr6:106740973G>A c.245C>T c.(244-246)cCa>cTa p.P82L

Mutation - ICGC Project Code Chromosome Chromosome Start Chromosome End Mutation Type Mutated from Allele Mutated to Allele Consequence Type AA Mutation CDS Mutation BLCA-US 6 106649864 106649864 single base substitution G A 3_prime_UTR_variant BLCA-US 6 106649864 106649864 single base substitution G A exon_variant BLCA-US 6 106649864 106649864 single base substitution G A missense_variant S147F 440C>T BLCA-US 6 106649864 106649864 single base substitution G A missense_variant S225F 674C>T BOCA-FR 6 106642797 106642797 single base substitution A T intron_variant BOCA-FR 6 106685052 106685052 single base substitution T C intron_variant BOCA-FR 6 106741317 106741317 single base substitution T C intron_variant BRCA-EU 6 106627573 106627573 single base substitution G C downstream_gene_variant BRCA-EU 6 106628696 106628696 single base substitution C G downstream_gene_variant BRCA-EU 6 106628947 106628947 single base substitution G A downstream_gene_variant BRCA-EU 6 106628992 106628992 single base substitution G A downstream_gene_variant BRCA-EU 6 106629243 106629243 single base substitution A T downstream_gene_variant BRCA-EU 6 106629952 106629952 single base substitution G C downstream_gene_variant BRCA-EU 6 106630543 106630543 single base substitution G A downstream_gene_variant BRCA-EU 6 106631343 106631343 single base substitution T G downstream_gene_variant BRCA-EU 6 106632861 106632861 deletion of <=200bp T - 3_prime_UTR_variant BRCA-EU 6 106632861 106632861 deletion of <=200bp T - exon_variant BRCA-EU 6 106633291 106633291 single base substitution C A 3_prime_UTR_variant BRCA-EU 6 106633291 106633291 single base substitution C A exon_variant BRCA-EU 6 106635081 106635081 single base substitution G C intron_variant BRCA-EU 6 106636591 106636591 single base substitution T C intron_variant BRCA-EU 6 106637249 106637249 single base substitution G A intron_variant BRCA-EU 6 106637327 106637327 single base substitution C T intron_variant BRCA-EU 6 106638397 106638397 single base substitution C G intron_variant BRCA-EU 6 106638796 106638796 single base substitution G T intron_variant BRCA-EU 6 106639736 106639736 deletion of <=200bp T - intron_variant BRCA-EU 6 106640113 106640113 single base substitution G A intron_variant BRCA-EU 6 106640147 106640147 single base substitution A C intron_variant BRCA-EU 6 106640810 106640810 single base substitution T A intron_variant BRCA-EU 6 106642465 106642465 single base substitution C T intron_variant BRCA-EU 6 106644517 106644517 single base substitution G A intron_variant BRCA-EU 6 106645217 106645217 single base substitution G C downstream_gene_variant BRCA-EU 6 106645217 106645217 single base substitution G C intron_variant BRCA-EU 6 106646418 106646418 single base substitution G A downstream_gene_variant BRCA-EU 6 106646418 106646418 single base substitution G A intron_variant BRCA-EU 6 106646488 106646488 single base substitution C A downstream_gene_variant BRCA-EU 6 106646488 106646488 single base substitution C A intron_variant BRCA-EU 6 106646866 106646866 deletion of <=200bp A - downstream_gene_variant BRCA-EU 6 106646866 106646866 deletion of <=200bp A - intron_variant BRCA-EU 6 106646940 106646940 single base substitution G T downstream_gene_variant BRCA-EU 6 106646940 106646940 single base substitution G T intron_variant BRCA-EU 6 106647669 106647670 deletion of <=200bp AT - downstream_gene_variant BRCA-EU 6 106647669 106647670 deletion of <=200bp AT - intron_variant BRCA-EU 6 106647846 106647846 single base substitution A T downstream_gene_variant BRCA-EU 6 106647846 106647846 single base substitution A T intron_variant BRCA-EU 6 106648994 106648994 insertion of <=200bp - A downstream_gene_variant BRCA-EU 6 106648994 106648994 insertion of <=200bp - A intron_variant BRCA-EU 6 106649058 106649058 single base substitution A G downstream_gene_variant BRCA-EU 6 106649058 106649058 single base substitution A G intron_variant BRCA-EU 6 106650350 106650350 single base substitution G T intron_variant BRCA-EU 6 106650350 106650350 single base substitution G T upstream_gene_variant BRCA-EU 6 106651606 106651606 single base substitution C T intron_variant BRCA-EU 6 106651606 106651606 single base substitution C T upstream_gene_variant BRCA-EU 6 106651902 106651902 single base substitution C G intron_variant BRCA-EU 6 106651902 106651902 single base substitution C G upstream_gene_variant BRCA-EU 6 106653196 106653196 single base substitution G C intron_variant BRCA-EU 6 106653196 106653196 single base substitution G C upstream_gene_variant BRCA-EU 6 106654876 106654876 single base substitution C T intron_variant BRCA-EU 6 106654876 106654876 single base substitution C T upstream_gene_variant BRCA-EU 6 106655057 106655057 single base substitution G A intron_variant BRCA-EU 6 106655057 106655057 single base substitution G A upstream_gene_variant BRCA-EU 6 106655493 106655493 single base substitution A G intron_variant BRCA-EU 6 106656229 106656229 single base substitution G A intron_variant BRCA-EU 6 106659428 106659428 deletion of <=200bp A - intron_variant BRCA-EU 6 106659952 106659952 single base substitution C T intron_variant BRCA-EU 6 106660168 106660171 deletion of <=200bp AACT - intron_variant BRCA-EU 6 106660594 106660594 single base substitution G T intron_variant BRCA-EU 6 106660635 106660635 single base substitution G C intron_variant BRCA-EU 6 106660769 106660769 single base substitution G C intron_variant BRCA-EU 6 106660791 106660791 single base substitution G C intron_variant BRCA-EU 6 106661267 106661267 single base substitution G T intron_variant BRCA-EU 6 106661290 106661290 single base substitution G T intron_variant BRCA-EU 6 106661332 106661332 single base substitution G T intron_variant BRCA-EU 6 106661604 106661604 single base substitution G A intron_variant BRCA-EU 6 106661683 106661683 single base substitution T C intron_variant BRCA-EU 6 106661694 106661694 single base substitution A G intron_variant BRCA-EU 6 106661731 106661731 single base substitution G A intron_variant BRCA-EU 6 106661766 106661766 single base substitution G A intron_variant BRCA-EU 6 106661927 106661927 single base substitution G C intron_variant BRCA-EU 6 106662009 106662009 single base substitution G A intron_variant BRCA-EU 6 106662598 106662598 single base substitution C T intron_variant BRCA-EU 6 106663290 106663290 single base substitution A G intron_variant BRCA-EU 6 106664042 106664042 single base substitution G C intron_variant BRCA-EU 6 106666339 106666339 single base substitution G C intron_variant BRCA-EU 6 106666640 106666640 single base substitution G C intron_variant BRCA-EU 6 106666890 106666890 single base substitution G C intron_variant BRCA-EU 6 106666931 106666931 single base substitution G C intron_variant BRCA-EU 6 106668279 106668279 single base substitution A G intron_variant BRCA-EU 6 106668621 106668621 single base substitution A G intron_variant BRCA-EU 6 106669193 106669193 single base substitution G C intron_variant BRCA-EU 6 106670205 106670205 single base substitution G C intron_variant BRCA-EU 6 106671043 106671043 insertion of <=200bp - A intron_variant BRCA-EU 6 106671949 106671949 single base substitution G T intron_variant BRCA-EU 6 106674030 106674030 single base substitution A G intron_variant BRCA-EU 6 106674185 106674185 single base substitution C A intron_variant BRCA-EU 6 106675008 106675008 single base substitution C T intron_variant BRCA-EU 6 106675894 106675894 single base substitution C G intron_variant BRCA-EU 6 106676897 106676897 single base substitution G A intron_variant BRCA-EU 6 106677435 106677435 deletion of <=200bp A - intron_variant BRCA-EU 6 106679368 106679368 single base substitution C T intron_variant BRCA-EU 6 106679514 106679514 single base substitution C G intron_variant BRCA-EU 6 106679615 106679615 single base substitution C T intron_variant BRCA-EU 6 106681324 106681324 single base substitution G A intron_variant BRCA-EU 6 106681614 106681614 single base substitution G A intron_variant BRCA-EU 6 106682583 106682583 single base substitution C A intron_variant BRCA-EU 6 106685163 106685163 single base substitution C G intron_variant BRCA-EU 6 106688606 106688606 deletion of <=200bp A - intron_variant BRCA-EU 6 106689346 106689346 single base substitution G C intron_variant BRCA-EU 6 106689668 106689668 single base substitution G A intron_variant BRCA-EU 6 106691177 106691177 single base substitution C T intron_variant BRCA-EU 6 106691297 106691297 single base substitution G T intron_variant BRCA-EU 6 106691408 106691408 single base substitution A G intron_variant BRCA-EU 6 106692755 106692755 single base substitution C T intron_variant BRCA-EU 6 106693940 106693940 single base substitution C A intron_variant BRCA-EU 6 106694414 106694414 single base substitution A G intron_variant BRCA-EU 6 106694573 106694573 single base substitution A G intron_variant BRCA-EU 6 106695097 106695097 single base substitution G C intron_variant BRCA-EU 6 106696508 106696508 single base substitution A C intron_variant BRCA-EU 6 106697601 106697601 single base substitution G A intron_variant BRCA-EU 6 106698429 106698429 single base substitution G C intron_variant BRCA-EU 6 106698524 106698524 single base substitution T C intron_variant BRCA-EU 6 106700284 106700287 deletion of <=200bp CTCT - intron_variant BRCA-EU 6 106700441 106700441 insertion of <=200bp - A intron_variant BRCA-EU 6 106700554 106700554 single base substitution C T intron_variant BRCA-EU 6 106701627 106701627 single base substitution G T intron_variant BRCA-EU 6 106702440 106702440 single base substitution G C intron_variant BRCA-EU 6 106704586 106704586 deletion of <=200bp A - intron_variant BRCA-EU 6 106705063 106705063 single base substitution A G intron_variant BRCA-EU 6 106705192 106705193 deletion of <=200bp AT - intron_variant BRCA-EU 6 106705225 106705225 single base substitution A G intron_variant BRCA-EU 6 106705884 106705884 single base substitution T G intron_variant BRCA-EU 6 106708145 106708145 deletion of <=200bp A - intron_variant BRCA-EU 6 106708629 106708629 single base substitution G A intron_variant BRCA-EU 6 106710809 106710809 single base substitution C G intron_variant BRCA-EU 6 106712637 106712637 single base substitution G A intron_variant BRCA-EU 6 106716276 106716276 single base substitution G A intron_variant BRCA-EU 6 106716336 106716336 single base substitution A G intron_variant BRCA-EU 6 106716767 106716767 single base substitution A C intron_variant BRCA-EU 6 106716785 106716785 single base substitution A G intron_variant BRCA-EU 6 106717320 106717320 single base substitution G A intron_variant BRCA-EU 6 106717641 106717641 single base substitution C T intron_variant BRCA-EU 6 106719222 106719222 single base substitution A G intron_variant BRCA-EU 6 106724964 106724964 single base substitution A G intron_variant BRCA-EU 6 106726697 106726697 single base substitution G C intron_variant BRCA-EU 6 106728792 106728792 single base substitution C T intron_variant BRCA-EU 6 106728792 106728792 single base substitution C T upstream_gene_variant BRCA-EU 6 106728985 106728985 single base substitution C T intron_variant BRCA-EU 6 106728985 106728985 single base substitution C T upstream_gene_variant BRCA-EU 6 106729330 106729330 single base substitution C T intron_variant BRCA-EU 6 106729330 106729330 single base substitution C T upstream_gene_variant BRCA-EU 6 106729450 106729450 single base substitution C G intron_variant BRCA-EU 6 106729450 106729450 single base substitution C G upstream_gene_variant BRCA-EU 6 106730260 106730260 insertion of <=200bp - T intron_variant BRCA-EU 6 106730260 106730260 insertion of <=200bp - T upstream_gene_variant BRCA-EU 6 106730626 106730626 single base substitution C A intron_variant BRCA-EU 6 106730626 106730626 single base substitution C A upstream_gene_variant BRCA-EU 6 106730787 106730787 single base substitution G C intron_variant BRCA-EU 6 106730787 106730787 single base substitution G C upstream_gene_variant BRCA-EU 6 106731676 106731676 single base substitution T C intron_variant BRCA-EU 6 106731676 106731676 single base substitution T C upstream_gene_variant BRCA-EU 6 106731808 106731808 single base substitution T C intron_variant BRCA-EU 6 106731808 106731808 single base substitution T C upstream_gene_variant BRCA-EU 6 106733602 106733602 single base substitution G A intron_variant BRCA-EU 6 106735665 106735665 single base substitution T A intron_variant BRCA-EU 6 106737921 106737921 single base substitution A G intron_variant BRCA-EU 6 106738316 106738316 single base substitution C T intron_variant BRCA-EU 6 106739007 106739007 single base substitution C T intron_variant BRCA-EU 6 106739008 106739008 single base substitution G A intron_variant BRCA-EU 6 106739087 106739087 single base substitution G A intron_variant BRCA-EU 6 106740454 106740454 single base substitution C A intron_variant BRCA-EU 6 106741680 106741680 single base substitution A G intron_variant BRCA-EU 6 106743755 106743755 single base substitution G A intron_variant BRCA-EU 6 106746165 106746165 single base substitution A T intron_variant BRCA-EU 6 106747459 106747459 single base substitution T C intron_variant BRCA-EU 6 106748856 106748856 single base substitution G A intron_variant BRCA-EU 6 106749116 106749116 single base substitution G C intron_variant BRCA-EU 6 106749384 106749384 single base substitution G A intron_variant BRCA-EU 6 106751228 106751228 single base substitution A G intron_variant BRCA-EU 6 106751860 106751860 single base substitution A G intron_variant BRCA-EU 6 106751961 106751961 deletion of <=200bp A - intron_variant BRCA-EU 6 106753309 106753309 deletion of <=200bp T - intron_variant BRCA-EU 6 106753756 106753756 single base substitution G C intron_variant BRCA-EU 6 106756855 106756855 deletion of <=200bp A - intron_variant BRCA-EU 6 106757050 106757050 single base substitution G A intron_variant BRCA-EU 6 106757061 106757061 single base substitution C T intron_variant BRCA-EU 6 106757804 106757804 single base substitution A G intron_variant BRCA-EU 6 106759495 106759495 single base substitution G C intron_variant BRCA-EU 6 106761169 106761169 single base substitution T G intron_variant BRCA-EU 6 106761253 106761253 single base substitution C A intron_variant BRCA-EU 6 106762896 106762896 single base substitution G A intron_variant BRCA-EU 6 106764266 106764266 single base substitution G A intron_variant BRCA-EU 6 106766073 106766073 single base substitution A T intron_variant BRCA-EU 6 106767950 106767950 single base substitution G A intron_variant BRCA-EU 6 106772516 106772516 single base substitution T C intron_variant BRCA-EU 6 106773698 106773698 single base substitution G C upstream_gene_variant BRCA-EU 6 106774038 106774038 single base substitution C A upstream_gene_variant BRCA-EU 6 106774217 106774217 single base substitution G A upstream_gene_variant BRCA-EU 6 106775335 106775335 single base substitution G T upstream_gene_variant BRCA-EU 6 106775803 106775803 single base substitution G T upstream_gene_variant BRCA-EU 6 106776245 106776245 single base substitution A C upstream_gene_variant BRCA-EU 6 106776582 106776582 single base substitution G C upstream_gene_variant BRCA-EU 6 106777000 106777000 single base substitution T G upstream_gene_variant BRCA-EU 6 106777813 106777813 single base substitution G A upstream_gene_variant BRCA-EU 6 106778215 106778215 single base substitution C A upstream_gene_variant BRCA-EU 6 106778421 106778421 single base substitution G C upstream_gene_variant BRCA-FR 6 106628947 106628947 single base substitution G A downstream_gene_variant BRCA-FR 6 106642465 106642465 single base substitution C T intron_variant BRCA-FR 6 106645217 106645217 single base substitution G C downstream_gene_variant BRCA-FR 6 106645217 106645217 single base substitution G C intron_variant BRCA-FR 6 106646488 106646488 single base substitution C A downstream_gene_variant BRCA-FR 6 106646488 106646488 single base substitution C A intron_variant BRCA-FR 6 106649299 106649299 single base substitution T A downstream_gene_variant BRCA-FR 6 106649299 106649299 single base substitution T A intron_variant BRCA-FR 6 106659966 106659966 single base substitution G C intron_variant BRCA-FR 6 106660231 106660231 single base substitution G C intron_variant BRCA-FR 6 106660292 106660292 single base substitution G A intron_variant BRCA-FR 6 106660594 106660594 single base substitution G T intron_variant BRCA-FR 6 106660635 106660635 single base substitution G C intron_variant BRCA-FR 6 106660769 106660769 single base substitution G C intron_variant BRCA-FR 6 106660791 106660791 single base substitution G C intron_variant BRCA-FR 6 106675008 106675008 single base substitution C T intron_variant BRCA-FR 6 106677672 106677672 single base substitution C A intron_variant BRCA-FR 6 106681614 106681614 single base substitution G A intron_variant BRCA-FR 6 106681866 106681866 single base substitution C T intron_variant BRCA-FR 6 106691177 106691177 single base substitution C T intron_variant BRCA-FR 6 106709249 106709249 single base substitution G A intron_variant BRCA-FR 6 106715272 106715272 single base substitution A G intron_variant BRCA-FR 6 106717641 106717641 single base substitution C T intron_variant BRCA-FR 6 106740454 106740454 single base substitution C A intron_variant BRCA-FR 6 106743755 106743755 single base substitution G A intron_variant BRCA-FR 6 106757050 106757050 single base substitution G A intron_variant BRCA-FR 6 106759495 106759495 single base substitution G C intron_variant BRCA-FR 6 106776870 106776870 single base substitution C G upstream_gene_variant BRCA-FR 6 106776887 106776887 single base substitution C T upstream_gene_variant BRCA-UK 6 106679615 106679615 single base substitution C T intron_variant BRCA-UK 6 106693650 106693650 single base substitution G C intron_variant BRCA-UK 6 106723788 106723788 single base substitution G A intron_variant BRCA-UK 6 106729450 106729450 single base substitution C G intron_variant BRCA-UK 6 106729450 106729450 single base substitution C G upstream_gene_variant BRCA-UK 6 106776245 106776245 single base substitution A C upstream_gene_variant BRCA-US 6 106633695 106633695 single base substitution C A 3_prime_UTR_variant BRCA-US 6 106633695 106633695 single base substitution C A exon_variant BRCA-US 6 106649944 106649944 single base substitution G A exon_variant BRCA-US 6 106649944 106649944 single base substitution G A missense_variant S75L 224C>T BRCA-US 6 106649944 106649944 single base substitution G A synonymous_variant F120F 360C>T BRCA-US 6 106649944 106649944 single base substitution G A synonymous_variant F198F 594C>T BRCA-US 6 106649958 106649958 single base substitution T A exon_variant BRCA-US 6 106649958 106649958 single base substitution T A missense_variant T116S 346A>T BRCA-US 6 106649958 106649958 single base substitution T A missense_variant T194S 580A>T BRCA-US 6 106649958 106649958 single base substitution T A synonymous_variant R70R 210A>T BRCA-US 6 106649961 106649961 single base substitution T A exon_variant BRCA-US 6 106649961 106649961 single base substitution T A missense_variant Q69H 207A>T BRCA-US 6 106649961 106649961 single base substitution T A missense_variant T115S 343A>T BRCA-US 6 106649961 106649961 single base substitution T A missense_variant T193S 577A>T BRCA-US 6 106740932 106740932 single base substitution G C intron_variant BRCA-US 6 106740932 106740932 single base substitution G C missense_variant L18V 52C>G BRCA-US 6 106740932 106740932 single base substitution G C missense_variant L96V 286C>G BTCA-JP 6 106634539 106634539 deletion of <=200bp T - 3_prime_UTR_variant BTCA-JP 6 106634539 106634539 deletion of <=200bp T - exon_variant BTCA-JP 6 106634539 106634539 deletion of <=200bp T - frameshift_variant K157 BTCA-JP 6 106634539 106634539 deletion of <=200bp T - frameshift_variant K235 CESC-US 6 106650034 106650034 single base substitution C A exon_variant CESC-US 6 106650034 106650034 single base substitution C A intron_variant CESC-US 6 106727617 106727617 single base substitution C T exon_variant CESC-US 6 106727617 106727617 single base substitution C T intron_variant CESC-US 6 106727617 106727617 single base substitution C T missense_variant D133N 397G>A CESC-US 6 106727617 106727617 single base substitution C T missense_variant D55N 163G>A CLLE-ES 6 106635205 106635205 single base substitution G A intron_variant CLLE-ES 6 106662066 106662066 single base substitution A C intron_variant CLLE-ES 6 106755411 106755411 single base substitution T C intron_variant CLLE-ES 6 106777189 106777189 single base substitution C A upstream_gene_variant COAD-US 6 106740984 106740984 deletion of <=200bp A - intron_variant COAD-US 6 106740984 106740984 deletion of <=200bp A - splice_region_variant COCA-CN 6 106638077 106638077 single base substitution G A intron_variant COCA-CN 6 106653336 106653336 single base substitution T A intron_variant COCA-CN 6 106653336 106653336 single base substitution T A upstream_gene_variant COCA-CN 6 106655418 106655418 single base substitution A G intron_variant COCA-CN 6 106667269 106667269 single base substitution C T intron_variant COCA-CN 6 106694267 106694267 single base substitution T A intron_variant COCA-CN 6 106694269 106694269 single base substitution A T intron_variant COCA-CN 6 106694271 106694271 single base substitution A T intron_variant COCA-CN 6 106694277 106694277 single base substitution A T intron_variant COCA-CN 6 106698295 106698295 single base substitution G T intron_variant COCA-CN 6 106706006 106706006 single base substitution A C intron_variant COCA-CN 6 106734923 106734923 single base substitution T C intron_variant COCA-CN 6 106739375 106739375 single base substitution C T intron_variant COCA-CN 6 106748412 106748412 single base substitution A G intron_variant COCA-CN 6 106761926 106761926 single base substitution A G intron_variant COCA-CN 6 106767316 106767316 single base substitution T G intron_variant EOPC-DE 6 106693103 106693103 single base substitution T C intron_variant EOPC-DE 6 106693849 106693849 single base substitution G A intron_variant EOPC-DE 6 106754410 106754410 single base substitution C G intron_variant ESAD-UK 6 106628687 106628687 single base substitution A G downstream_gene_variant ESAD-UK 6 106632947 106632947 single base substitution C A 3_prime_UTR_variant ESAD-UK 6 106632947 106632947 single base substitution C A exon_variant ESAD-UK 6 106633200 106633200 single base substitution G A 3_prime_UTR_variant ESAD-UK 6 106633200 106633200 single base substitution G A exon_variant ESAD-UK 6 106640584 106640584 single base substitution T A intron_variant ESAD-UK 6 106641228 106641228 single base substitution T C intron_variant ESAD-UK 6 106641351 106641351 single base substitution A C intron_variant ESAD-UK 6 106646403 106646403 single base substitution G A downstream_gene_variant ESAD-UK 6 106646403 106646403 single base substitution G A intron_variant ESAD-UK 6 106646807 106646807 insertion of <=200bp - A downstream_gene_variant ESAD-UK 6 106646807 106646807 insertion of <=200bp - A intron_variant ESAD-UK 6 106647327 106647327 single base substitution A C downstream_gene_variant ESAD-UK 6 106647327 106647327 single base substitution A C intron_variant ESAD-UK 6 106648314 106648314 single base substitution A T downstream_gene_variant ESAD-UK 6 106648314 106648314 single base substitution A T intron_variant ESAD-UK 6 106649767 106649767 single base substitution T C exon_variant ESAD-UK 6 106649767 106649767 single base substitution T C intron_variant ESAD-UK 6 106651723 106651723 single base substitution T C intron_variant ESAD-UK 6 106651723 106651723 single base substitution T C upstream_gene_variant ESAD-UK 6 106657716 106657716 single base substitution C T intron_variant ESAD-UK 6 106659212 106659212 single base substitution G A intron_variant ESAD-UK 6 106660181 106660181 single base substitution T A intron_variant ESAD-UK 6 106661749 106661749 single base substitution C G intron_variant ESAD-UK 6 106661829 106661829 single base substitution G C intron_variant ESAD-UK 6 106662410 106662410 single base substitution A C intron_variant ESAD-UK 6 106662577 106662577 single base substitution C T intron_variant ESAD-UK 6 106662587 106662587 single base substitution T C intron_variant ESAD-UK 6 106667160 106667160 single base substitution T C intron_variant ESAD-UK 6 106670110 106670110 single base substitution G A intron_variant ESAD-UK 6 106675582 106675582 single base substitution G C intron_variant ESAD-UK 6 106676233 106676233 single base substitution T C intron_variant ESAD-UK 6 106677272 106677272 single base substitution T A intron_variant ESAD-UK 6 106680329 106680329 single base substitution G A intron_variant ESAD-UK 6 106681193 106681193 single base substitution G A intron_variant ESAD-UK 6 106685550 106685550 single base substitution G C intron_variant ESAD-UK 6 106691090 106691090 single base substitution C T intron_variant ESAD-UK 6 106691465 106691465 single base substitution G A intron_variant ESAD-UK 6 106691665 106691665 single base substitution T A intron_variant ESAD-UK 6 106692409 106692409 single base substitution G A intron_variant ESAD-UK 6 106696881 106696881 single base substitution A T intron_variant ESAD-UK 6 106699395 106699395 single base substitution C T intron_variant ESAD-UK 6 106700200 106700200 deletion of <=200bp G - intron_variant ESAD-UK 6 106701522 106701522 single base substitution C T intron_variant ESAD-UK 6 106702582 106702582 single base substitution G A intron_variant ESAD-UK 6 106704083 106704083 insertion of <=200bp - A intron_variant ESAD-UK 6 106704620 106704620 single base substitution C T intron_variant ESAD-UK 6 106707582 106707582 single base substitution C G intron_variant ESAD-UK 6 106711933 106711933 single base substitution G C intron_variant ESAD-UK 6 106712320 106712320 single base substitution C T intron_variant ESAD-UK 6 106712631 106712633 deletion of <=200bp GAA - intron_variant ESAD-UK 6 106716772 106716772 single base substitution G C intron_variant ESAD-UK 6 106717563 106717563 single base substitution G A intron_variant ESAD-UK 6 106717988 106717988 single base substitution C G intron_variant ESAD-UK 6 106719938 106719938 single base substitution C A intron_variant ESAD-UK 6 106722012 106722012 single base substitution A C intron_variant ESAD-UK 6 106726912 106726912 single base substitution T C intron_variant ESAD-UK 6 106729252 106729252 single base substitution A C intron_variant ESAD-UK 6 106729252 106729252 single base substitution A C upstream_gene_variant ESAD-UK 6 106731365 106731365 single base substitution C T intron_variant ESAD-UK 6 106731365 106731365 single base substitution C T upstream_gene_variant ESAD-UK 6 106732478 106732478 single base substitution C T intron_variant ESAD-UK 6 106732478 106732478 single base substitution C T upstream_gene_variant ESAD-UK 6 106733233 106733233 single base substitution A T intron_variant ESAD-UK 6 106735126 106735126 single base substitution C G intron_variant ESAD-UK 6 106735784 106735784 single base substitution C A intron_variant ESAD-UK 6 106737544 106737544 single base substitution A T intron_variant ESAD-UK 6 106740966 106740966 single base substitution A C intron_variant ESAD-UK 6 106740966 106740966 single base substitution A C synonymous_variant G6G 18T>G ESAD-UK 6 106740966 106740966 single base substitution A C synonymous_variant G84G 252T>G ESAD-UK 6 106744482 106744482 single base substitution T A intron_variant ESAD-UK 6 106750902 106750902 insertion of <=200bp - A intron_variant ESAD-UK 6 106750937 106750937 insertion of <=200bp - A intron_variant ESAD-UK 6 106751474 106751474 single base substitution G A intron_variant ESAD-UK 6 106751953 106751953 single base substitution G T intron_variant ESAD-UK 6 106755167 106755167 single base substitution G A intron_variant ESAD-UK 6 106759788 106759788 single base substitution G A intron_variant ESAD-UK 6 106761441 106761441 single base substitution C A intron_variant ESAD-UK 6 106762599 106762599 single base substitution G C intron_variant ESAD-UK 6 106763275 106763275 single base substitution C A intron_variant ESAD-UK 6 106766926 106766926 single base substitution C T intron_variant ESAD-UK 6 106767081 106767081 single base substitution G A intron_variant ESAD-UK 6 106773699 106773699 single base substitution A G upstream_gene_variant ESAD-UK 6 106774352 106774352 single base substitution T G upstream_gene_variant ESAD-UK 6 106775445 106775445 single base substitution A C upstream_gene_variant ESAD-UK 6 106776570 106776570 single base substitution G T upstream_gene_variant ESAD-UK 6 106776610 106776610 single base substitution A G upstream_gene_variant ESAD-UK 6 106776636 106776636 single base substitution G A upstream_gene_variant ESAD-UK 6 106777448 106777448 single base substitution T G upstream_gene_variant ESAD-UK 6 106778660 106778660 insertion of <=200bp - G upstream_gene_variant GBM-US 6 106764059 106764059 single base substitution G A 5_prime_UTR_premature_start_codon_gain_variant GBM-US 6 106764059 106764059 single base substitution G A stop_gained R9* 25C>T LAML-KR 6 106723322 106723322 single base substitution G C intron_variant LGG-US 6 106727551 106727551 single base substitution T C exon_variant LGG-US 6 106727551 106727551 single base substitution T C intron_variant LGG-US 6 106727551 106727551 single base substitution T C missense_variant M155V 463A>G LGG-US 6 106727551 106727551 single base substitution T C missense_variant M77V 229A>G LGG-US 6 106764041 106764041 single base substitution G A 5_prime_UTR_premature_start_codon_gain_variant LGG-US 6 106764041 106764041 single base substitution G A stop_gained R15* 43C>T LGG-US 6 106764059 106764059 single base substitution G A 5_prime_UTR_premature_start_codon_gain_variant LGG-US 6 106764059 106764059 single base substitution G A stop_gained R9* 25C>T LICA-CN 6 106764041 106764041 single base substitution G A 5_prime_UTR_premature_start_codon_gain_variant LICA-CN 6 106764041 106764041 single base substitution G A stop_gained R15* 43C>T LICA-CN 6 106764065 106764065 single base substitution C A 5_prime_UTR_premature_start_codon_gain_variant LICA-CN 6 106764065 106764065 single base substitution C A missense_variant V7L 19G>T LICA-FR 6 106639000 106639000 single base substitution A G intron_variant LICA-FR 6 106668637 106668637 single base substitution A T intron_variant LICA-FR 6 106676741 106676741 single base substitution G T intron_variant LICA-FR 6 106680863 106680863 single base substitution G A intron_variant LICA-FR 6 106683953 106683953 single base substitution T C intron_variant LICA-FR 6 106713398 106713398 single base substitution T C intron_variant LICA-FR 6 106715953 106715953 single base substitution T C intron_variant LICA-FR 6 106715966 106715966 single base substitution G C intron_variant LICA-FR 6 106731100 106731100 single base substitution C T intron_variant LICA-FR 6 106731100 106731100 single base substitution C T upstream_gene_variant LICA-FR 6 106745593 106745593 insertion of <=200bp - AC intron_variant LICA-FR 6 106749993 106749993 insertion of <=200bp - A intron_variant LICA-FR 6 106756318 106756318 single base substitution T A intron_variant LICA-FR 6 106756318 106756318 single base substitution T A stop_gained K53* 157A>T LIHC-US 6 106634468 106634468 single base substitution T G 3_prime_UTR_variant LIHC-US 6 106634468 106634468 single base substitution T G exon_variant LIHC-US 6 106634468 106634468 single base substitution T G missense_variant S181R 541A>C LIHC-US 6 106634468 106634468 single base substitution T G missense_variant S259R 775A>C LIHC-US 6 106634473 106634473 single base substitution T C 3_prime_UTR_variant LIHC-US 6 106634473 106634473 single base substitution T C exon_variant LIHC-US 6 106634473 106634473 single base substitution T C missense_variant H179R 536A>G LIHC-US 6 106634473 106634473 single base substitution T C missense_variant H257R 770A>G LINC-JP 6 106635531 106635531 single base substitution T C intron_variant LINC-JP 6 106646011 106646011 single base substitution T A downstream_gene_variant LINC-JP 6 106646011 106646011 single base substitution T A intron_variant LINC-JP 6 106664642 106664642 single base substitution A T intron_variant LINC-JP 6 106668441 106668441 single base substitution T C intron_variant LINC-JP 6 106672414 106672414 single base substitution T C intron_variant LINC-JP 6 106695868 106695868 single base substitution G A intron_variant LINC-JP 6 106696017 106696017 single base substitution T C splice_region_variant LINC-JP 6 106697259 106697259 single base substitution C T intron_variant LINC-JP 6 106699550 106699550 single base substitution G C intron_variant LINC-JP 6 106706902 106706902 single base substitution C G intron_variant LINC-JP 6 106719665 106719665 insertion of <=200bp - A intron_variant LINC-JP 6 106724290 106724290 single base substitution G A intron_variant LINC-JP 6 106737164 106737164 single base substitution T C intron_variant LINC-JP 6 106762936 106762936 single base substitution T A intron_variant LINC-JP 6 106764046 106764048 deletion of <=200bp AAC - 5_prime_UTR_variant LINC-JP 6 106764046 106764048 deletion of <=200bp AAC - disruptive_inframe_deletion WF12C LINC-JP 6 106764053 106764056 deletion of <=200bp CATC - 5_prime_UTR_variant LINC-JP 6 106764053 106764056 deletion of <=200bp CATC - frameshift_variant DV10 LINC-JP 6 106775383 106775383 single base substitution C T upstream_gene_variant LIRI-JP 6 106628261 106628261 single base substitution T C downstream_gene_variant LIRI-JP 6 106628978 106628978 single base substitution A G downstream_gene_variant LIRI-JP 6 106630102 106630102 single base substitution G A downstream_gene_variant LIRI-JP 6 106630189 106630189 single base substitution A C downstream_gene_variant LIRI-JP 6 106631838 106631838 single base substitution T C downstream_gene_variant LIRI-JP 6 106632257 106632257 single base substitution T C downstream_gene_variant LIRI-JP 6 106634119 106634119 single base substitution T A 3_prime_UTR_variant LIRI-JP 6 106634119 106634119 single base substitution T A exon_variant LIRI-JP 6 106635853 106635853 single base substitution A C intron_variant LIRI-JP 6 106639130 106639130 single base substitution A G intron_variant LIRI-JP 6 106642208 106642208 single base substitution C T intron_variant LIRI-JP 6 106642273 106642273 single base substitution G A intron_variant LIRI-JP 6 106642683 106642683 single base substitution A G intron_variant LIRI-JP 6 106642738 106642738 single base substitution T C intron_variant LIRI-JP 6 106644761 106644761 single base substitution T C downstream_gene_variant LIRI-JP 6 106644761 106644761 single base substitution T C intron_variant LIRI-JP 6 106646186 106646186 single base substitution T A downstream_gene_variant LIRI-JP 6 106646186 106646186 single base substitution T A intron_variant LIRI-JP 6 106646324 106646324 single base substitution T C downstream_gene_variant LIRI-JP 6 106646324 106646324 single base substitution T C intron_variant LIRI-JP 6 106646554 106646554 single base substitution A C downstream_gene_variant LIRI-JP 6 106646554 106646554 single base substitution A C intron_variant LIRI-JP 6 106649048 106649048 single base substitution A T downstream_gene_variant LIRI-JP 6 106649048 106649048 single base substitution A T intron_variant LIRI-JP 6 106649838 106649838 single base substitution T C exon_variant LIRI-JP 6 106649838 106649838 single base substitution T C intron_variant LIRI-JP 6 106650160 106650160 single base substitution A T exon_variant LIRI-JP 6 106650160 106650160 single base substitution A T intron_variant LIRI-JP 6 106651600 106651600 single base substitution T C intron_variant LIRI-JP 6 106651600 106651600 single base substitution T C upstream_gene_variant LIRI-JP 6 106654217 106654217 single base substitution G T intron_variant LIRI-JP 6 106654217 106654217 single base substitution G T upstream_gene_variant LIRI-JP 6 106654702 106654702 single base substitution C G intron_variant LIRI-JP 6 106654702 106654702 single base substitution C G upstream_gene_variant LIRI-JP 6 106655378 106655378 single base substitution C A intron_variant LIRI-JP 6 106656360 106656360 single base substitution T C intron_variant LIRI-JP 6 106657293 106657293 single base substitution A C intron_variant LIRI-JP 6 106659418 106659418 single base substitution T C intron_variant LIRI-JP 6 106660581 106660581 single base substitution T C intron_variant LIRI-JP 6 106661325 106661325 single base substitution T C intron_variant LIRI-JP 6 106662065 106662065 deletion of <=200bp A - intron_variant LIRI-JP 6 106663442 106663442 single base substitution C T intron_variant LIRI-JP 6 106665612 106665612 single base substitution T C intron_variant LIRI-JP 6 106667538 106667538 single base substitution A C intron_variant LIRI-JP 6 106670573 106670573 single base substitution T C intron_variant LIRI-JP 6 106670990 106670990 single base substitution A G intron_variant LIRI-JP 6 106671646 106671646 single base substitution T C intron_variant LIRI-JP 6 106672007 106672007 single base substitution G T intron_variant LIRI-JP 6 106672819 106672819 single base substitution T C intron_variant LIRI-JP 6 106674539 106674539 single base substitution A T intron_variant LIRI-JP 6 106679299 106679299 single base substitution C A intron_variant LIRI-JP 6 106680808 106680808 single base substitution C T intron_variant LIRI-JP 6 106680810 106680810 single base substitution C G intron_variant LIRI-JP 6 106683513 106683513 single base substitution G A intron_variant LIRI-JP 6 106685067 106685067 single base substitution A G intron_variant LIRI-JP 6 106685918 106685918 single base substitution T C intron_variant LIRI-JP 6 106689566 106689566 single base substitution C T intron_variant LIRI-JP 6 106691150 106691150 single base substitution T A intron_variant LIRI-JP 6 106691326 106691326 single base substitution C A intron_variant LIRI-JP 6 106692773 106692773 single base substitution T C intron_variant LIRI-JP 6 106693744 106693744 single base substitution T C intron_variant LIRI-JP 6 106696231 106696231 single base substitution C G intron_variant LIRI-JP 6 106697978 106697978 single base substitution T C intron_variant LIRI-JP 6 106698441 106698441 single base substitution T C intron_variant LIRI-JP 6 106698716 106698716 single base substitution C A intron_variant LIRI-JP 6 106700389 106700389 single base substitution A G intron_variant LIRI-JP 6 106700810 106700810 single base substitution T C intron_variant LIRI-JP 6 106702288 106702288 single base substitution T C intron_variant LIRI-JP 6 106704734 106704734 single base substitution T C intron_variant LIRI-JP 6 106706902 106706902 single base substitution C G intron_variant LIRI-JP 6 106706938 106706945 deletion of <=200bp AAACTGAA - intron_variant LIRI-JP 6 106708081 106708081 single base substitution A T intron_variant LIRI-JP 6 106708973 106708978 deletion of <=200bp TTAGAG - intron_variant LIRI-JP 6 106709183 106709183 single base substitution T C intron_variant LIRI-JP 6 106711436 106711436 single base substitution G A intron_variant LIRI-JP 6 106712398 106712398 single base substitution C A intron_variant LIRI-JP 6 106713634 106713634 single base substitution C T intron_variant LIRI-JP 6 106714412 106714412 single base substitution A G intron_variant LIRI-JP 6 106715555 106715555 single base substitution C T intron_variant LIRI-JP 6 106718120 106718120 single base substitution T C intron_variant LIRI-JP 6 106718837 106718837 single base substitution T G intron_variant LIRI-JP 6 106719548 106719548 single base substitution T A intron_variant LIRI-JP 6 106719931 106719931 single base substitution G A intron_variant LIRI-JP 6 106720401 106720401 single base substitution A G intron_variant LIRI-JP 6 106722802 106722802 single base substitution A T intron_variant LIRI-JP 6 106724019 106724019 single base substitution C A intron_variant LIRI-JP 6 106726812 106726812 single base substitution T C intron_variant LIRI-JP 6 106728080 106728080 single base substitution A T intron_variant LIRI-JP 6 106728080 106728080 single base substitution A T upstream_gene_variant LIRI-JP 6 106728429 106728429 single base substitution C T intron_variant LIRI-JP 6 106728429 106728429 single base substitution C T upstream_gene_variant LIRI-JP 6 106729311 106729311 single base substitution G A intron_variant LIRI-JP 6 106729311 106729311 single base substitution G A upstream_gene_variant LIRI-JP 6 106729355 106729355 single base substitution T G intron_variant LIRI-JP 6 106729355 106729355 single base substitution T G upstream_gene_variant LIRI-JP 6 106730236 106730236 single base substitution T C intron_variant LIRI-JP 6 106730236 106730236 single base substitution T C upstream_gene_variant LIRI-JP 6 106733607 106733607 single base substitution T C intron_variant LIRI-JP 6 106735970 106735970 single base substitution C T intron_variant LIRI-JP 6 106738487 106738487 single base substitution C T intron_variant LIRI-JP 6 106739177 106739177 single base substitution T C intron_variant LIRI-JP 6 106740531 106740531 single base substitution T C intron_variant LIRI-JP 6 106740946 106740946 single base substitution G A intron_variant LIRI-JP 6 106740946 106740946 single base substitution G A missense_variant A13V 38C>T LIRI-JP 6 106740946 106740946 single base substitution G A missense_variant A91V 272C>T LIRI-JP 6 106742863 106742863 single base substitution T C intron_variant LIRI-JP 6 106745446 106745446 single base substitution G A intron_variant LIRI-JP 6 106746782 106746782 single base substitution T C intron_variant LIRI-JP 6 106747747 106747747 single base substitution T C intron_variant LIRI-JP 6 106748637 106748637 single base substitution C G intron_variant LIRI-JP 6 106753710 106753710 single base substitution T C intron_variant LIRI-JP 6 106753876 106753876 single base substitution T C intron_variant LIRI-JP 6 106756369 106756369 single base substitution G C intron_variant LIRI-JP 6 106756369 106756369 single base substitution G C splice_region_variant LIRI-JP 6 106758953 106758953 single base substitution T C intron_variant LIRI-JP 6 106759385 106759385 single base substitution C T intron_variant LIRI-JP 6 106760315 106760315 single base substitution T C intron_variant LIRI-JP 6 106762203 106762203 single base substitution G C intron_variant LIRI-JP 6 106762987 106762987 single base substitution C T intron_variant LIRI-JP 6 106763433 106763433 single base substitution T C intron_variant LIRI-JP 6 106763538 106763541 deletion of <=200bp AACA - intron_variant LIRI-JP 6 106764455 106764455 single base substitution G A intron_variant LIRI-JP 6 106764489 106764489 single base substitution G A intron_variant LIRI-JP 6 106764922 106764922 single base substitution A G intron_variant LIRI-JP 6 106766808 106766808 single base substitution T C intron_variant LIRI-JP 6 106767527 106767527 single base substitution G T intron_variant LIRI-JP 6 106767593 106767593 single base substitution T A intron_variant LIRI-JP 6 106768232 106768232 single base substitution G C intron_variant LIRI-JP 6 106768244 106768244 single base substitution C A intron_variant LIRI-JP 6 106770131 106770131 single base substitution C A intron_variant LIRI-JP 6 106771185 106771185 single base substitution C T intron_variant LIRI-JP 6 106776046 106776046 single base substitution T C upstream_gene_variant LIRI-JP 6 106777397 106777397 single base substitution T A upstream_gene_variant LIRI-JP 6 106777566 106777566 single base substitution C A upstream_gene_variant LIRI-JP 6 106777944 106777944 single base substitution G A upstream_gene_variant LIRI-JP 6 106778264 106778264 single base substitution G C upstream_gene_variant LUSC-KR 6 106628137 106628137 single base substitution C A downstream_gene_variant LUSC-KR 6 106628563 106628563 single base substitution T C downstream_gene_variant LUSC-KR 6 106638074 106638074 single base substitution A T intron_variant LUSC-KR 6 106643757 106643757 single base substitution G A intron_variant LUSC-KR 6 106650058 106650058 single base substitution T G exon_variant LUSC-KR 6 106650058 106650058 single base substitution T G intron_variant LUSC-KR 6 106662593 106662593 single base substitution C T intron_variant LUSC-KR 6 106663903 106663903 single base substitution G T intron_variant LUSC-KR 6 106663904 106663904 single base substitution A C intron_variant LUSC-KR 6 106665019 106665019 single base substitution C A intron_variant LUSC-KR 6 106666265 106666265 single base substitution C A intron_variant LUSC-KR 6 106670235 106670235 single base substitution A T intron_variant LUSC-KR 6 106673949 106673949 single base substitution T C intron_variant LUSC-KR 6 106677487 106677487 single base substitution T G intron_variant LUSC-KR 6 106678737 106678737 single base substitution G C intron_variant LUSC-KR 6 106679351 106679351 single base substitution G C intron_variant LUSC-KR 6 106680113 106680113 single base substitution C A intron_variant LUSC-KR 6 106681988 106681988 single base substitution G A intron_variant LUSC-KR 6 106694232 106694232 single base substitution C A intron_variant LUSC-KR 6 106695478 106695478 single base substitution A T intron_variant LUSC-KR 6 106711780 106711780 single base substitution T A intron_variant LUSC-KR 6 106713043 106713043 single base substitution C A intron_variant LUSC-KR 6 106724356 106724356 single base substitution G A intron_variant LUSC-KR 6 106727609 106727609 single base substitution T C exon_variant LUSC-KR 6 106727609 106727609 single base substitution T C intron_variant LUSC-KR 6 106727609 106727609 single base substitution T C synonymous_variant L135L 405A>G LUSC-KR 6 106727609 106727609 single base substitution T C synonymous_variant L57L 171A>G LUSC-KR 6 106732164 106732164 single base substitution T C intron_variant LUSC-KR 6 106732164 106732164 single base substitution T C upstream_gene_variant LUSC-KR 6 106732919 106732919 single base substitution G C intron_variant LUSC-KR 6 106734138 106734138 single base substitution G C intron_variant LUSC-KR 6 106739143 106739143 single base substitution C A intron_variant LUSC-KR 6 106742605 106742605 single base substitution C A intron_variant LUSC-KR 6 106743689 106743689 single base substitution T A intron_variant LUSC-KR 6 106749158 106749158 single base substitution C A intron_variant LUSC-KR 6 106749940 106749940 single base substitution G A intron_variant LUSC-KR 6 106751465 106751465 single base substitution C A intron_variant LUSC-KR 6 106756285 106756285 single base substitution C T intron_variant LUSC-KR 6 106756285 106756285 single base substitution C T missense_variant D64N 190G>A LUSC-KR 6 106761093 106761093 single base substitution A G intron_variant LUSC-KR 6 106773088 106773088 single base substitution C T intron_variant LUSC-KR 6 106776959 106776959 single base substitution G T upstream_gene_variant LUSC-KR 6 106777993 106777993 single base substitution C G upstream_gene_variant LUSC-KR 6 106778264 106778264 single base substitution G T upstream_gene_variant LUSC-KR 6 106778534 106778534 single base substitution G A upstream_gene_variant MALY-DE 6 106639788 106639788 single base substitution A C intron_variant MALY-DE 6 106658207 106658207 single base substitution T C intron_variant MALY-DE 6 106661474 106661474 single base substitution T G intron_variant MALY-DE 6 106663449 106663449 single base substitution T G intron_variant MALY-DE 6 106663531 106663531 single base substitution T G intron_variant MALY-DE 6 106679480 106679480 single base substitution T C intron_variant MALY-DE 6 106691737 106691737 single base substitution A T intron_variant MALY-DE 6 106691967 106691967 insertion of <=200bp - T intron_variant MALY-DE 6 106699409 106699409 single base substitution A G intron_variant MALY-DE 6 106711758 106711758 single base substitution A G intron_variant MALY-DE 6 106714271 106714271 single base substitution A T intron_variant MALY-DE 6 106719930 106719930 single base substitution C T intron_variant MALY-DE 6 106721394 106721394 single base substitution A G intron_variant MALY-DE 6 106728075 106728075 single base substitution T C intron_variant MALY-DE 6 106728075 106728075 single base substitution T C upstream_gene_variant MALY-DE 6 106734310 106734310 single base substitution G A intron_variant MALY-DE 6 106742209 106742209 single base substitution T A intron_variant MALY-DE 6 106752162 106752162 single base substitution A T intron_variant MALY-DE 6 106774459 106774459 single base substitution A T upstream_gene_variant MALY-DE 6 106776930 106776930 single base substitution T A upstream_gene_variant MELA-AU 6 106627420 106627420 single base substitution A T downstream_gene_variant MELA-AU 6 106627860 106627860 single base substitution G A downstream_gene_variant MELA-AU 6 106628145 106628145 single base substitution G A downstream_gene_variant MELA-AU 6 106628460 106628460 single base substitution G A downstream_gene_variant MELA-AU 6 106628862 106628862 single base substitution G A downstream_gene_variant MELA-AU 6 106629201 106629201 single base substitution G A downstream_gene_variant MELA-AU 6 106630548 106630548 single base substitution G A downstream_gene_variant MELA-AU 6 106631047 106631047 single base substitution T G downstream_gene_variant MELA-AU 6 106631416 106631416 single base substitution G A downstream_gene_variant MELA-AU 6 106632294 106632294 single base substitution G A downstream_gene_variant MELA-AU 6 106633355 106633355 single base substitution G A 3_prime_UTR_variant MELA-AU 6 106633355 106633355 single base substitution G A exon_variant MELA-AU 6 106633489 106633489 single base substitution G A 3_prime_UTR_variant MELA-AU 6 106633489 106633489 single base substitution G A exon_variant MELA-AU 6 106633502 106633502 single base substitution C T 3_prime_UTR_variant MELA-AU 6 106633502 106633502 single base substitution C T exon_variant MELA-AU 6 106634344 106634344 single base substitution G A 3_prime_UTR_variant MELA-AU 6 106634344 106634344 single base substitution G A exon_variant MELA-AU 6 106634676 106634676 single base substitution G A intron_variant MELA-AU 6 106634787 106634787 single base substitution T A intron_variant MELA-AU 6 106635483 106635483 single base substitution T C intron_variant MELA-AU 6 106635675 106635675 single base substitution A G intron_variant MELA-AU 6 106636829 106636829 single base substitution G A intron_variant MELA-AU 6 106637072 106637072 single base substitution A T intron_variant MELA-AU 6 106637363 106637363 single base substitution G A intron_variant MELA-AU 6 106637515 106637515 single base substitution A G intron_variant MELA-AU 6 106638418 106638418 single base substitution C T intron_variant MELA-AU 6 106638798 106638798 single base substitution G A intron_variant MELA-AU 6 106641342 106641342 single base substitution G A intron_variant MELA-AU 6 106642074 106642075 multiple base substitution (>=2bp and <=200bp) AA TC intron_variant MELA-AU 6 106642121 106642121 single base substitution G A intron_variant MELA-AU 6 106642316 106642316 single base substitution A G intron_variant MELA-AU 6 106642480 106642480 single base substitution C T intron_variant MELA-AU 6 106642952 106642952 single base substitution G A intron_variant MELA-AU 6 106643623 106643623 single base substitution C T intron_variant MELA-AU 6 106643836 106643837 multiple base substitution (>=2bp and <=200bp) GG AA intron_variant MELA-AU 6 106645241 106645241 single base substitution A G downstream_gene_variant MELA-AU 6 106645241 106645241 single base substitution A G intron_variant MELA-AU 6 106646195 106646195 single base substitution A C downstream_gene_variant MELA-AU 6 106646195 106646195 single base substitution A C intron_variant MELA-AU 6 106646261 106646261 single base substitution G A downstream_gene_variant MELA-AU 6 106646261 106646261 single base substitution G A intron_variant MELA-AU 6 106646675 106646675 single base substitution G A downstream_gene_variant MELA-AU 6 106646675 106646675 single base substitution G A intron_variant MELA-AU 6 106646819 106646819 single base substitution G A downstream_gene_variant MELA-AU 6 106646819 106646819 single base substitution G A intron_variant MELA-AU 6 106648128 106648128 single base substitution A G downstream_gene_variant MELA-AU 6 106648128 106648128 single base substitution A G intron_variant MELA-AU 6 106648316 106648316 single base substitution A T downstream_gene_variant MELA-AU 6 106648316 106648316 single base substitution A T intron_variant MELA-AU 6 106648577 106648577 single base substitution G A downstream_gene_variant MELA-AU 6 106648577 106648577 single base substitution G A intron_variant MELA-AU 6 106649616 106649616 single base substitution G A downstream_gene_variant MELA-AU 6 106649616 106649616 single base substitution G A intron_variant MELA-AU 6 106649977 106649977 single base substitution G T exon_variant MELA-AU 6 106649977 106649977 single base substitution G T intron_variant MELA-AU 6 106651431 106651431 single base substitution G A intron_variant MELA-AU 6 106651431 106651431 single base substitution G A upstream_gene_variant MELA-AU 6 106651953 106651953 single base substitution G A intron_variant MELA-AU 6 106651953 106651953 single base substitution G A upstream_gene_variant MELA-AU 6 106652836 106652836 single base substitution G A intron_variant MELA-AU 6 106652836 106652836 single base substitution G A upstream_gene_variant MELA-AU 6 106653395 106653395 single base substitution A T intron_variant MELA-AU 6 106653395 106653395 single base substitution A T upstream_gene_variant MELA-AU 6 106653799 106653799 single base substitution A G intron_variant MELA-AU 6 106653799 106653799 single base substitution A G upstream_gene_variant MELA-AU 6 106654343 106654343 single base substitution G A intron_variant MELA-AU 6 106654343 106654343 single base substitution G A upstream_gene_variant MELA-AU 6 106654512 106654512 single base substitution G A intron_variant MELA-AU 6 106654512 106654512 single base substitution G A upstream_gene_variant MELA-AU 6 106654950 106654950 single base substitution G A intron_variant MELA-AU 6 106654950 106654950 single base substitution G A upstream_gene_variant MELA-AU 6 106655751 106655751 single base substitution G A intron_variant MELA-AU 6 106655916 106655916 single base substitution G A intron_variant MELA-AU 6 106656623 106656623 single base substitution G A intron_variant MELA-AU 6 106657273 106657273 single base substitution G A intron_variant MELA-AU 6 106657691 106657691 single base substitution A G intron_variant MELA-AU 6 106658114 106658114 single base substitution C T intron_variant MELA-AU 6 106658286 106658286 single base substitution G A intron_variant MELA-AU 6 106658734 106658734 single base substitution C T intron_variant MELA-AU 6 106659040 106659040 single base substitution G A intron_variant MELA-AU 6 106659235 106659235 single base substitution C T intron_variant MELA-AU 6 106659877 106659877 single base substitution T A intron_variant MELA-AU 6 106660024 106660024 single base substitution G A intron_variant MELA-AU 6 106660335 106660335 single base substitution G A intron_variant MELA-AU 6 106661877 106661877 single base substitution C T intron_variant MELA-AU 6 106663426 106663426 single base substitution C T intron_variant MELA-AU 6 106663899 106663899 single base substitution G A intron_variant MELA-AU 6 106664501 106664501 single base substitution G C intron_variant MELA-AU 6 106665358 106665358 single base substitution C T intron_variant MELA-AU 6 106666023 106666024 multiple base substitution (>=2bp and <=200bp) AG TA intron_variant MELA-AU 6 106666278 106666278 single base substitution G A intron_variant MELA-AU 6 106667190 106667190 single base substitution G A intron_variant MELA-AU 6 106667563 106667563 single base substitution G A intron_variant MELA-AU 6 106667814 106667814 single base substitution G A intron_variant MELA-AU 6 106668416 106668416 single base substitution G A intron_variant MELA-AU 6 106668556 106668556 single base substitution G A intron_variant MELA-AU 6 106668756 106668756 single base substitution G A intron_variant MELA-AU 6 106669327 106669327 single base substitution A T intron_variant MELA-AU 6 106669382 106669382 single base substitution G A intron_variant MELA-AU 6 106669957 106669957 single base substitution G A intron_variant MELA-AU 6 106670083 106670083 single base substitution G A intron_variant MELA-AU 6 106671238 106671238 single base substitution G A intron_variant MELA-AU 6 106671885 106671885 single base substitution A G intron_variant MELA-AU 6 106672405 106672405 single base substitution G A intron_variant MELA-AU 6 106672479 106672479 single base substitution G C intron_variant MELA-AU 6 106672664 106672664 single base substitution G A intron_variant MELA-AU 6 106673074 106673074 single base substitution G A intron_variant MELA-AU 6 106673727 106673727 single base substitution G A intron_variant MELA-AU 6 106674105 106674105 single base substitution G A intron_variant MELA-AU 6 106674195 106674195 single base substitution G A intron_variant MELA-AU 6 106674317 106674317 single base substitution G A intron_variant MELA-AU 6 106674549 106674549 single base substitution C T intron_variant MELA-AU 6 106674790 106674790 single base substitution A C intron_variant MELA-AU 6 106674940 106674940 single base substitution G A intron_variant MELA-AU 6 106675187 106675187 single base substitution G A intron_variant MELA-AU 6 106675316 106675316 single base substitution A G intron_variant MELA-AU 6 106675398 106675398 single base substitution G A intron_variant MELA-AU 6 106675962 106675962 single base substitution G A intron_variant MELA-AU 6 106676249 106676249 single base substitution G A intron_variant MELA-AU 6 106676289 106676289 single base substitution G A intron_variant MELA-AU 6 106676483 106676483 single base substitution G A intron_variant MELA-AU 6 106676532 106676532 single base substitution G A intron_variant MELA-AU 6 106676946 106676946 single base substitution G A intron_variant MELA-AU 6 106676953 106676953 single base substitution T C intron_variant MELA-AU 6 106678171 106678171 single base substitution G A intron_variant MELA-AU 6 106678538 106678538 single base substitution G A intron_variant MELA-AU 6 106678566 106678566 single base substitution C T intron_variant MELA-AU 6 106679902 106679902 single base substitution G A intron_variant MELA-AU 6 106680875 106680875 single base substitution G A intron_variant MELA-AU 6 106681403 106681403 single base substitution G A intron_variant MELA-AU 6 106681441 106681441 single base substitution G A intron_variant MELA-AU 6 106682329 106682329 deletion of <=200bp A - intron_variant MELA-AU 6 106682421 106682421 single base substitution G A intron_variant MELA-AU 6 106682843 106682843 single base substitution G A intron_variant MELA-AU 6 106682875 106682875 single base substitution G A intron_variant MELA-AU 6 106682962 106682962 single base substitution G A intron_variant MELA-AU 6 106684361 106684361 single base substitution A C intron_variant MELA-AU 6 106685190 106685190 single base substitution T C intron_variant MELA-AU 6 106685587 106685587 single base substitution C T intron_variant MELA-AU 6 106686491 106686491 single base substitution G A intron_variant MELA-AU 6 106686625 106686625 single base substitution G A intron_variant MELA-AU 6 106686771 106686771 single base substitution T C intron_variant MELA-AU 6 106688116 106688116 single base substitution G A intron_variant MELA-AU 6 106689027 106689027 single base substitution C T intron_variant MELA-AU 6 106689434 106689435 multiple base substitution (>=2bp and <=200bp) GG AA intron_variant MELA-AU 6 106690404 106690404 single base substitution G A intron_variant MELA-AU 6 106690480 106690480 single base substitution G A intron_variant MELA-AU 6 106690766 106690767 multiple base substitution (>=2bp and <=200bp) CT TA intron_variant MELA-AU 6 106690768 106690768 single base substitution T C intron_variant MELA-AU 6 106691408 106691408 single base substitution A G intron_variant MELA-AU 6 106691601 106691601 single base substitution G A intron_variant MELA-AU 6 106692409 106692409 single base substitution G A intron_variant MELA-AU 6 106692478 106692478 single base substitution G A intron_variant MELA-AU 6 106692807 106692807 single base substitution G A intron_variant MELA-AU 6 106694366 106694366 single base substitution G A intron_variant MELA-AU 6 106695633 106695633 single base substitution G A intron_variant MELA-AU 6 106695915 106695915 deletion of <=200bp A - intron_variant MELA-AU 6 106696051 106696051 single base substitution G A exon_variant MELA-AU 6 106696051 106696051 single base substitution G A missense_variant R105C 313C>T MELA-AU 6 106696051 106696051 single base substitution G A missense_variant R183C 547C>T MELA-AU 6 106696051 106696051 single base substitution G A synonymous_variant F59F 177C>T MELA-AU 6 106698195 106698195 single base substitution C T intron_variant MELA-AU 6 106698283 106698283 single base substitution A G intron_variant MELA-AU 6 106698673 106698673 single base substitution G A intron_variant MELA-AU 6 106698916 106698916 single base substitution C A intron_variant MELA-AU 6 106699906 106699906 single base substitution G A intron_variant MELA-AU 6 106700632 106700632 single base substitution A C intron_variant MELA-AU 6 106702095 106702095 single base substitution C T intron_variant MELA-AU 6 106702127 106702127 single base substitution A C intron_variant MELA-AU 6 106702656 106702656 single base substitution G A intron_variant MELA-AU 6 106702871 106702871 single base substitution C T intron_variant MELA-AU 6 106703013 106703013 single base substitution G A intron_variant MELA-AU 6 106703281 106703281 single base substitution G A intron_variant MELA-AU 6 106704231 106704231 single base substitution G A intron_variant MELA-AU 6 106704400 106704400 single base substitution G A intron_variant MELA-AU 6 106706356 106706356 single base substitution A C intron_variant MELA-AU 6 106706551 106706551 single base substitution A T intron_variant MELA-AU 6 106707342 106707342 single base substitution G A intron_variant MELA-AU 6 106707743 106707743 single base substitution A T intron_variant MELA-AU 6 106708365 106708366 multiple base substitution (>=2bp and <=200bp) AG GA intron_variant MELA-AU 6 106709407 106709407 single base substitution G A intron_variant MELA-AU 6 106709605 106709605 single base substitution G A intron_variant MELA-AU 6 106709693 106709693 single base substitution G A intron_variant MELA-AU 6 106710190 106710190 single base substitution C T intron_variant MELA-AU 6 106710299 106710299 single base substitution G A intron_variant MELA-AU 6 106710880 106710880 single base substitution C T intron_variant MELA-AU 6 106711007 106711007 single base substitution G A intron_variant MELA-AU 6 106711824 106711824 single base substitution T C intron_variant MELA-AU 6 106711858 106711858 single base substitution G A intron_variant MELA-AU 6 106711898 106711898 single base substitution A G intron_variant MELA-AU 6 106712387 106712387 single base substitution G A intron_variant MELA-AU 6 106712440 106712440 single base substitution G A intron_variant MELA-AU 6 106713154 106713154 single base substitution G A intron_variant MELA-AU 6 106713282 106713282 single base substitution G A intron_variant MELA-AU 6 106713366 106713366 single base substitution G A intron_variant MELA-AU 6 106713464 106713464 single base substitution G A intron_variant MELA-AU 6 106713886 106713886 single base substitution G A intron_variant MELA-AU 6 106714129 106714129 single base substitution G A intron_variant MELA-AU 6 106714264 106714264 single base substitution G A intron_variant MELA-AU 6 106714468 106714468 single base substitution A T intron_variant MELA-AU 6 106715229 106715229 single base substitution G A intron_variant MELA-AU 6 106715535 106715535 single base substitution G A intron_variant MELA-AU 6 106715984 106715984 single base substitution G A intron_variant MELA-AU 6 106716149 106716149 single base substitution A T intron_variant MELA-AU 6 106716583 106716583 single base substitution G A intron_variant MELA-AU 6 106717347 106717347 single base substitution G A intron_variant MELA-AU 6 106717711 106717711 single base substitution C T intron_variant MELA-AU 6 106717772 106717772 single base substitution G A intron_variant MELA-AU 6 106717783 106717783 single base substitution G A intron_variant MELA-AU 6 106718716 106718716 single base substitution C T intron_variant MELA-AU 6 106718720 106718720 single base substitution G A intron_variant MELA-AU 6 106718846 106718846 single base substitution A T intron_variant MELA-AU 6 106721359 106721359 single base substitution T A intron_variant MELA-AU 6 106721374 106721374 single base substitution C A intron_variant MELA-AU 6 106721590 106721590 single base substitution C A intron_variant MELA-AU 6 106722774 106722774 single base substitution G A intron_variant MELA-AU 6 106724026 106724026 single base substitution G A intron_variant MELA-AU 6 106724850 106724850 single base substitution T C intron_variant MELA-AU 6 106725172 106725172 single base substitution G A intron_variant MELA-AU 6 106725588 106725588 single base substitution C T intron_variant MELA-AU 6 106725840 106725840 single base substitution G A intron_variant MELA-AU 6 106726425 106726426 multiple base substitution (>=2bp and <=200bp) GT AA intron_variant MELA-AU 6 106727799 106727799 single base substitution A C intron_variant MELA-AU 6 106727799 106727799 single base substitution A C upstream_gene_variant MELA-AU 6 106728046 106728046 single base substitution G A intron_variant MELA-AU 6 106728046 106728046 single base substitution G A upstream_gene_variant MELA-AU 6 106728699 106728699 single base substitution G A intron_variant MELA-AU 6 106728699 106728699 single base substitution G A upstream_gene_variant MELA-AU 6 106729728 106729728 single base substitution C A intron_variant MELA-AU 6 106729728 106729728 single base substitution C A upstream_gene_variant MELA-AU 6 106729911 106729911 single base substitution G A intron_variant MELA-AU 6 106729911 106729911 single base substitution G A upstream_gene_variant MELA-AU 6 106730971 106730971 single base substitution G A intron_variant MELA-AU 6 106730971 106730971 single base substitution G A upstream_gene_variant MELA-AU 6 106731425 106731425 single base substitution G A intron_variant MELA-AU 6 106731425 106731425 single base substitution G A upstream_gene_variant MELA-AU 6 106731624 106731624 single base substitution G A intron_variant MELA-AU 6 106731624 106731624 single base substitution G A upstream_gene_variant MELA-AU 6 106732059 106732059 single base substitution C T intron_variant MELA-AU 6 106732059 106732059 single base substitution C T upstream_gene_variant MELA-AU 6 106732326 106732326 single base substitution G A intron_variant MELA-AU 6 106732326 106732326 single base substitution G A upstream_gene_variant MELA-AU 6 106733464 106733464 single base substitution G A intron_variant MELA-AU 6 106735531 106735531 single base substitution T C intron_variant MELA-AU 6 106735949 106735949 single base substitution G A intron_variant MELA-AU 6 106736570 106736570 single base substitution G A intron_variant MELA-AU 6 106737093 106737093 single base substitution G A intron_variant MELA-AU 6 106737697 106737699 deletion of <=200bp CTT - intron_variant MELA-AU 6 106738241 106738241 single base substitution G A intron_variant MELA-AU 6 106739633 106739633 single base substitution T C intron_variant MELA-AU 6 106740578 106740578 single base substitution G A intron_variant MELA-AU 6 106740973 106740973 single base substitution G A intron_variant MELA-AU 6 106740973 106740973 single base substitution G A missense_variant P4L 11C>T MELA-AU 6 106740973 106740973 single base substitution G A missense_variant P82L 245C>T MELA-AU 6 106742326 106742326 single base substitution A T intron_variant MELA-AU 6 106743497 106743497 single base substitution G A intron_variant MELA-AU 6 106743685 106743685 single base substitution C T intron_variant MELA-AU 6 106743834 106743834 single base substitution G A intron_variant MELA-AU 6 106744026 106744026 single base substitution G A intron_variant MELA-AU 6 106744684 106744684 single base substitution C T intron_variant MELA-AU 6 106745118 106745118 single base substitution T G intron_variant MELA-AU 6 106745224 106745224 single base substitution G A intron_variant MELA-AU 6 106745803 106745803 single base substitution G A intron_variant MELA-AU 6 106745943 106745943 single base substitution G A intron_variant MELA-AU 6 106746334 106746334 single base substitution G A intron_variant MELA-AU 6 106747080 106747080 single base substitution G A intron_variant MELA-AU 6 106748788 106748788 single base substitution T C intron_variant MELA-AU 6 106749327 106749328 multiple base substitution (>=2bp and <=200bp) AC TT intron_variant MELA-AU 6 106749683 106749683 single base substitution G A intron_variant MELA-AU 6 106749738 106749738 single base substitution A G intron_variant MELA-AU 6 106750217 106750217 single base substitution A G intron_variant MELA-AU 6 106750440 106750440 single base substitution G A intron_variant MELA-AU 6 106750826 106750826 single base substitution A C intron_variant MELA-AU 6 106750880 106750880 single base substitution A T intron_variant MELA-AU 6 106751999 106751999 single base substitution T C intron_variant MELA-AU 6 106752146 106752146 single base substitution A C intron_variant MELA-AU 6 106752550 106752550 single base substitution G A intron_variant MELA-AU 6 106752578 106752578 single base substitution G A intron_variant MELA-AU 6 106753629 106753629 single base substitution A T intron_variant MELA-AU 6 106755071 106755071 single base substitution C T intron_variant MELA-AU 6 106755344 106755344 single base substitution G A intron_variant MELA-AU 6 106755531 106755531 single base substitution C T intron_variant MELA-AU 6 106755646 106755646 single base substitution G A intron_variant MELA-AU 6 106755762 106755762 single base substitution G A intron_variant MELA-AU 6 106756111 106756111 single base substitution A T intron_variant MELA-AU 6 106757913 106757913 single base substitution G A intron_variant MELA-AU 6 106758930 106758930 single base substitution T C intron_variant MELA-AU 6 106759405 106759405 single base substitution G A intron_variant MELA-AU 6 106759503 106759503 single base substitution G A intron_variant MELA-AU 6 106759673 106759673 single base substitution G A intron_variant MELA-AU 6 106760403 106760403 single base substitution G A intron_variant MELA-AU 6 106760430 106760430 single base substitution G A intron_variant MELA-AU 6 106760628 106760628 single base substitution A T intron_variant MELA-AU 6 106761329 106761329 single base substitution G A intron_variant MELA-AU 6 106761491 106761491 single base substitution G A intron_variant MELA-AU 6 106762159 106762159 single base substitution G A intron_variant MELA-AU 6 106763156 106763156 single base substitution T A intron_variant MELA-AU 6 106763433 106763433 single base substitution T C intron_variant MELA-AU 6 106765045 106765045 single base substitution G A intron_variant MELA-AU 6 106765361 106765361 single base substitution G A intron_variant MELA-AU 6 106766062 106766062 single base substitution G A intron_variant MELA-AU 6 106766295 106766295 single base substitution A T intron_variant MELA-AU 6 106766648 106766649 multiple base substitution (>=2bp and <=200bp) CC TG intron_variant MELA-AU 6 106767306 106767308 deletion of <=200bp AGA - intron_variant MELA-AU 6 106767963 106767963 single base substitution G A intron_variant MELA-AU 6 106769325 106769325 single base substitution C T intron_variant MELA-AU 6 106769328 106769328 single base substitution G A intron_variant MELA-AU 6 106769393 106769393 single base substitution C T intron_variant MELA-AU 6 106769425 106769425 single base substitution G A intron_variant MELA-AU 6 106770011 106770011 single base substitution A C intron_variant MELA-AU 6 106770532 106770532 single base substitution G A intron_variant MELA-AU 6 106772391 106772391 single base substitution G A intron_variant MELA-AU 6 106773424 106773424 single base substitution C T 5_prime_UTR_variant MELA-AU 6 106773424 106773424 single base substitution C T upstream_gene_variant MELA-AU 6 106773888 106773888 single base substitution C A upstream_gene_variant MELA-AU 6 106774454 106774454 single base substitution A T upstream_gene_variant MELA-AU 6 106774918 106774918 single base substitution G A upstream_gene_variant MELA-AU 6 106775004 106775004 single base substitution G A upstream_gene_variant MELA-AU 6 106775075 106775075 single base substitution C T upstream_gene_variant MELA-AU 6 106775264 106775264 single base substitution G T upstream_gene_variant MELA-AU 6 106775323 106775323 single base substitution C T upstream_gene_variant MELA-AU 6 106775333 106775333 single base substitution T A upstream_gene_variant MELA-AU 6 106775334 106775334 single base substitution G A upstream_gene_variant MELA-AU 6 106775466 106775466 single base substitution C T upstream_gene_variant MELA-AU 6 106775555 106775555 single base substitution A T upstream_gene_variant MELA-AU 6 106775560 106775560 single base substitution G A upstream_gene_variant MELA-AU 6 106775615 106775615 single base substitution A G upstream_gene_variant MELA-AU 6 106776080 106776080 single base substitution G A upstream_gene_variant MELA-AU 6 106777107 106777107 single base substitution A G upstream_gene_variant MELA-AU 6 106777159 106777159 single base substitution A C upstream_gene_variant MELA-AU 6 106777398 106777398 single base substitution C T upstream_gene_variant MELA-AU 6 106777431 106777431 single base substitution C T upstream_gene_variant MELA-AU 6 106777843 106777843 single base substitution G A upstream_gene_variant MELA-AU 6 106777859 106777859 single base substitution T A upstream_gene_variant MELA-AU 6 106778316 106778326 deletion of <=200bp AACACATTAAA - upstream_gene_variant MELA-AU 6 106778537 106778537 single base substitution C T upstream_gene_variant MELA-AU 6 106778566 106778566 single base substitution C T upstream_gene_variant ORCA-IN 6 106679488 106679488 single base substitution C T intron_variant ORCA-IN 6 106681870 106681870 single base substitution C T intron_variant ORCA-IN 6 106682108 106682108 single base substitution G A intron_variant ORCA-IN 6 106712131 106712131 single base substitution T C intron_variant ORCA-IN 6 106772672 106772672 single base substitution T C intron_variant OV-AU 6 106627358 106627358 single base substitution G A downstream_gene_variant OV-AU 6 106630619 106630619 single base substitution C T downstream_gene_variant OV-AU 6 106631023 106631023 single base substitution C A downstream_gene_variant OV-AU 6 106645977 106645977 single base substitution C T downstream_gene_variant OV-AU 6 106645977 106645977 single base substitution C T intron_variant OV-AU 6 106646987 106646987 single base substitution C G downstream_gene_variant OV-AU 6 106646987 106646987 single base substitution C G intron_variant OV-AU 6 106671738 106671738 single base substitution A C intron_variant OV-AU 6 106677829 106677829 single base substitution G T intron_variant OV-AU 6 106681071 106681071 single base substitution A T intron_variant OV-AU 6 106687830 106687830 single base substitution C G intron_variant OV-AU 6 106688077 106688077 single base substitution A G intron_variant OV-AU 6 106695805 106695805 single base substitution T G intron_variant OV-AU 6 106703012 106703012 single base substitution G T intron_variant OV-AU 6 106726297 106726297 single base substitution G C intron_variant OV-AU 6 106738355 106738355 single base substitution C A intron_variant OV-AU 6 106742260 106742260 single base substitution G C intron_variant OV-AU 6 106744467 106744467 single base substitution T G intron_variant OV-AU 6 106749573 106749573 single base substitution C T intron_variant OV-AU 6 106750764 106750764 single base substitution G C intron_variant OV-AU 6 106752648 106752648 single base substitution G C intron_variant OV-AU 6 106753145 106753145 single base substitution A C intron_variant OV-AU 6 106766238 106766238 single base substitution C A intron_variant OV-AU 6 106768792 106768792 single base substitution A T intron_variant OV-AU 6 106769738 106769738 single base substitution C G intron_variant OV-AU 6 106773302 106773302 single base substitution G C intron_variant OV-AU 6 106773302 106773302 single base substitution G C upstream_gene_variant OV-AU 6 106777276 106777276 single base substitution T C upstream_gene_variant PACA-AU 6 106629673 106629673 single base substitution C G downstream_gene_variant PACA-AU 6 106634519 106634519 single base substitution C T 3_prime_UTR_variant PACA-AU 6 106634519 106634519 single base substitution C T exon_variant PACA-AU 6 106634519 106634519 single base substitution C T missense_variant G164R 490G>A PACA-AU 6 106634519 106634519 single base substitution C T missense_variant G242R 724G>A PACA-AU 6 106641830 106641830 single base substitution C A intron_variant PACA-AU 6 106645384 106645384 single base substitution G T downstream_gene_variant PACA-AU 6 106645384 106645384 single base substitution G T intron_variant PACA-AU 6 106648314 106648314 single base substitution A T downstream_gene_variant PACA-AU 6 106648314 106648314 single base substitution A T intron_variant PACA-AU 6 106648508 106648508 single base substitution G A downstream_gene_variant PACA-AU 6 106648508 106648508 single base substitution G A intron_variant PACA-AU 6 106653698 106653698 single base substitution G A intron_variant PACA-AU 6 106653698 106653698 single base substitution G A upstream_gene_variant PACA-AU 6 106657564 106657564 single base substitution G A intron_variant PACA-AU 6 106658658 106658658 single base substitution C A intron_variant PACA-AU 6 106663823 106663823 single base substitution C G intron_variant PACA-AU 6 106683913 106683913 deletion of <=200bp T - intron_variant PACA-AU 6 106687624 106687624 single base substitution T C intron_variant PACA-AU 6 106690990 106690990 single base substitution G A intron_variant PACA-AU 6 106691010 106691010 deletion of <=200bp T - intron_variant PACA-AU 6 106692019 106692019 single base substitution T A intron_variant PACA-AU 6 106692944 106692944 single base substitution A G intron_variant PACA-AU 6 106692966 106692966 single base substitution A T intron_variant PACA-AU 6 106696881 106696881 single base substitution A T intron_variant PACA-AU 6 106704054 106704054 single base substitution T A intron_variant PACA-AU 6 106705565 106705565 single base substitution C T intron_variant PACA-AU 6 106712119 106712119 single base substitution A C intron_variant PACA-AU 6 106713281 106713281 single base substitution G C intron_variant PACA-AU 6 106717768 106717768 single base substitution G A intron_variant PACA-AU 6 106718349 106718349 deletion of <=200bp A - intron_variant PACA-AU 6 106718390 106718390 single base substitution C T intron_variant PACA-AU 6 106719663 106719663 single base substitution T A intron_variant PACA-AU 6 106727848 106727848 single base substitution T G intron_variant PACA-AU 6 106727848 106727848 single base substitution T G upstream_gene_variant PACA-AU 6 106737640 106737640 insertion of <=200bp - AAC intron_variant PACA-AU 6 106740281 106740281 single base substitution A T intron_variant PACA-AU 6 106741399 106741399 single base substitution G A intron_variant PACA-AU 6 106742930 106742930 single base substitution A T intron_variant PACA-AU 6 106743601 106743601 single base substitution G C intron_variant PACA-AU 6 106748191 106748191 single base substitution G C intron_variant PACA-AU 6 106759775 106759775 single base substitution G A intron_variant PACA-AU 6 106764021 106764021 single base substitution C G 5_prime_UTR_variant PACA-AU 6 106764021 106764021 single base substitution C G synonymous_variant T21T 63G>C PACA-AU 6 106766274 106766274 single base substitution G A intron_variant PACA-AU 6 106769736 106769736 single base substitution A G intron_variant PACA-AU 6 106771672 106771672 single base substitution T G intron_variant PACA-AU 6 106772698 106772698 single base substitution A G intron_variant PACA-AU 6 106776523 106776523 single base substitution C T upstream_gene_variant PACA-CA 6 106639736 106639736 single base substitution T C intron_variant PACA-CA 6 106641887 106641887 single base substitution T C intron_variant PACA-CA 6 106645412 106645412 single base substitution C G downstream_gene_variant PACA-CA 6 106645412 106645412 single base substitution C G intron_variant PACA-CA 6 106646885 106646885 single base substitution A G downstream_gene_variant PACA-CA 6 106646885 106646885 single base substitution A G intron_variant PACA-CA 6 106648993 106648993 insertion of <=200bp - A downstream_gene_variant PACA-CA 6 106648993 106648993 insertion of <=200bp - A intron_variant PACA-CA 6 106649440 106649440 single base substitution C A downstream_gene_variant PACA-CA 6 106649440 106649440 single base substitution C A intron_variant PACA-CA 6 106654720 106654720 single base substitution G C intron_variant PACA-CA 6 106654720 106654720 single base substitution G C upstream_gene_variant PACA-CA 6 106655629 106655629 single base substitution T A intron_variant PACA-CA 6 106656920 106656920 single base substitution A G intron_variant PACA-CA 6 106658454 106658454 single base substitution T A intron_variant PACA-CA 6 106660612 106660612 single base substitution A G intron_variant PACA-CA 6 106663442 106663442 single base substitution C T intron_variant PACA-CA 6 106666057 106666057 single base substitution G C intron_variant PACA-CA 6 106666252 106666252 single base substitution G A intron_variant PACA-CA 6 106666562 106666562 single base substitution G A intron_variant PACA-CA 6 106666585 106666585 single base substitution C T intron_variant PACA-CA 6 106669351 106669351 single base substitution A G intron_variant PACA-CA 6 106671032 106671032 single base substitution A C intron_variant PACA-CA 6 106674736 106674736 single base substitution T C intron_variant PACA-CA 6 106677091 106677091 single base substitution C T intron_variant PACA-CA 6 106680702 106680702 single base substitution G A intron_variant PACA-CA 6 106683566 106683566 single base substitution C A intron_variant PACA-CA 6 106686675 106686675 single base substitution G A intron_variant PACA-CA 6 106688606 106688606 deletion of <=200bp A - intron_variant PACA-CA 6 106689646 106689646 single base substitution G A intron_variant PACA-CA 6 106701183 106701183 single base substitution G C intron_variant PACA-CA 6 106708880 106708880 single base substitution T A intron_variant PACA-CA 6 106710938 106710938 single base substitution C T intron_variant PACA-CA 6 106712365 106712365 single base substitution A G intron_variant PACA-CA 6 106714408 106714408 single base substitution G C intron_variant PACA-CA 6 106717738 106717738 single base substitution G A intron_variant PACA-CA 6 106718184 106718184 single base substitution T A intron_variant PACA-CA 6 106719039 106719039 single base substitution C T intron_variant PACA-CA 6 106720353 106720353 single base substitution G T intron_variant PACA-CA 6 106724544 106724544 single base substitution C T intron_variant PACA-CA 6 106726826 106726826 single base substitution C T intron_variant PACA-CA 6 106728554 106728554 single base substitution C T intron_variant PACA-CA 6 106728554 106728554 single base substitution C T upstream_gene_variant PACA-CA 6 106733234 106733234 single base substitution T A intron_variant PACA-CA 6 106734125 106734125 single base substitution C G intron_variant PACA-CA 6 106737651 106737651 insertion of <=200bp - A intron_variant PACA-CA 6 106745640 106745640 insertion of <=200bp - ACATAT intron_variant PACA-CA 6 106750058 106750062 deletion of <=200bp AATTA - intron_variant PACA-CA 6 106751980 106751981 deletion of <=200bp GT - intron_variant PACA-CA 6 106759775 106759775 single base substitution G A intron_variant PACA-CA 6 106759788 106759788 single base substitution G A intron_variant PACA-CA 6 106762756 106762756 single base substitution G T intron_variant PACA-CA 6 106765421 106765422 deletion of <=200bp AA - intron_variant PACA-CA 6 106770637 106770637 insertion of <=200bp - A intron_variant PACA-CA 6 106775123 106775123 single base substitution G A upstream_gene_variant PACA-CA 6 106775976 106775976 single base substitution G T upstream_gene_variant PAEN-AU 6 106728170 106728170 single base substitution G A intron_variant PAEN-AU 6 106728170 106728170 single base substitution G A upstream_gene_variant PAEN-AU 6 106752993 106752993 single base substitution A T intron_variant PAEN-IT 6 106752749 106752749 single base substitution C T intron_variant PAEN-IT 6 106776293 106776293 single base substitution C T upstream_gene_variant PBCA-DE 6 106641003 106641003 insertion of <=200bp - T intron_variant PBCA-DE 6 106649324 106649324 single base substitution T C downstream_gene_variant PBCA-DE 6 106649324 106649324 single base substitution T C intron_variant PBCA-DE 6 106664837 106664837 deletion of <=200bp A - intron_variant PBCA-DE 6 106700417 106700417 single base substitution T C intron_variant PBCA-DE 6 106701945 106701945 single base substitution C A intron_variant PBCA-DE 6 106705122 106705122 single base substitution T A intron_variant PBCA-DE 6 106707077 106707077 single base substitution C T intron_variant PBCA-DE 6 106708986 106708986 single base substitution G C intron_variant PBCA-DE 6 106710288 106710288 single base substitution G T intron_variant PBCA-DE 6 106711117 106711117 single base substitution G A intron_variant PBCA-DE 6 106712480 106712480 single base substitution C A intron_variant PBCA-DE 6 106736810 106736811 deletion of <=200bp TG - intron_variant PBCA-DE 6 106737544 106737544 insertion of <=200bp - A intron_variant PBCA-DE 6 106743260 106743260 single base substitution G A intron_variant PBCA-DE 6 106746906 106746906 single base substitution C T intron_variant PBCA-DE 6 106756563 106756563 single base substitution A G intron_variant PBCA-DE 6 106760118 106760118 single base substitution A G intron_variant PBCA-DE 6 106767885 106767885 single base substitution C T intron_variant PBCA-DE 6 106771916 106771916 single base substitution A G intron_variant PBCA-DE 6 106778648 106778648 insertion of <=200bp - A upstream_gene_variant PRAD-CA 6 106627936 106627936 single base substitution G A downstream_gene_variant PRAD-CA 6 106628540 106628540 single base substitution T G downstream_gene_variant PRAD-CA 6 106640706 106640706 single base substitution T G intron_variant PRAD-CA 6 106663145 106663145 single base substitution G A intron_variant PRAD-CA 6 106665697 106665697 single base substitution G A intron_variant PRAD-CA 6 106689568 106689568 single base substitution T C intron_variant PRAD-CA 6 106694269 106694269 single base substitution A T intron_variant PRAD-CA 6 106694271 106694271 single base substitution A T intron_variant PRAD-CA 6 106716564 106716564 single base substitution C T intron_variant PRAD-CA 6 106724078 106724078 single base substitution G A intron_variant PRAD-CA 6 106771819 106771819 single base substitution C T intron_variant PRAD-CA 6 106777813 106777813 single base substitution G A upstream_gene_variant PRAD-UK 6 106631589 106631589 single base substitution G T downstream_gene_variant PRAD-UK 6 106632829 106632829 single base substitution T C 3_prime_UTR_variant PRAD-UK 6 106632829 106632829 single base substitution T C exon_variant PRAD-UK 6 106633277 106633277 single base substitution G C 3_prime_UTR_variant PRAD-UK 6 106633277 106633277 single base substitution G C exon_variant PRAD-UK 6 106635929 106635929 single base substitution T G intron_variant PRAD-UK 6 106656705 106656705 single base substitution A T intron_variant PRAD-UK 6 106660375 106660375 single base substitution G A intron_variant PRAD-UK 6 106663442 106663442 single base substitution C T intron_variant PRAD-UK 6 106674484 106674484 single base substitution T A intron_variant PRAD-UK 6 106709150 106709150 single base substitution A C intron_variant PRAD-UK 6 106709225 106709225 single base substitution A C intron_variant PRAD-UK 6 106729434 106729434 single base substitution T G intron_variant PRAD-UK 6 106729434 106729434 single base substitution T G upstream_gene_variant PRAD-UK 6 106739831 106739831 single base substitution A G intron_variant PRAD-UK 6 106743151 106743154 deletion of <=200bp TTAA - intron_variant PRAD-UK 6 106769391 106769391 single base substitution G A intron_variant PRAD-UK 6 106772592 106772592 single base substitution A G intron_variant PRAD-UK 6 106775202 106775202 single base substitution G T upstream_gene_variant PRAD-US 6 106764041 106764041 single base substitution G A 5_prime_UTR_premature_start_codon_gain_variant PRAD-US 6 106764041 106764041 single base substitution G A stop_gained R15* 43C>T RECA-EU 6 106627633 106627633 single base substitution G T downstream_gene_variant RECA-EU 6 106633273 106633273 single base substitution G A 3_prime_UTR_variant RECA-EU 6 106633273 106633273 single base substitution G A exon_variant RECA-EU 6 106674186 106674186 single base substitution A T intron_variant RECA-EU 6 106687129 106687129 single base substitution A C intron_variant RECA-EU 6 106698588 106698588 single base substitution C G intron_variant RECA-EU 6 106702070 106702070 single base substitution G C intron_variant RECA-EU 6 106705419 106705419 single base substitution T C intron_variant RECA-EU 6 106706339 106706339 single base substitution G A intron_variant RECA-EU 6 106708683 106708683 single base substitution T C intron_variant RECA-EU 6 106711374 106711374 single base substitution C G intron_variant RECA-EU 6 106712637 106712637 single base substitution G C intron_variant RECA-EU 6 106725300 106725300 single base substitution A C intron_variant RECA-EU 6 106732602 106732602 single base substitution T G intron_variant RECA-EU 6 106732602 106732602 single base substitution T G upstream_gene_variant RECA-EU 6 106732603 106732603 single base substitution G T intron_variant RECA-EU 6 106732603 106732603 single base substitution G T upstream_gene_variant RECA-EU 6 106744357 106744357 single base substitution T C intron_variant RECA-EU 6 106756394 106756394 single base substitution T G intron_variant RECA-EU 6 106759250 106759250 single base substitution C T intron_variant RECA-EU 6 106778509 106778509 single base substitution T C upstream_gene_variant SKCA-BR 6 106630300 106630300 single base substitution A C downstream_gene_variant SKCA-BR 6 106632305 106632305 single base substitution G A downstream_gene_variant SKCA-BR 6 106638088 106638088 single base substitution T A intron_variant SKCA-BR 6 106640395 106640395 single base substitution T C intron_variant SKCA-BR 6 106643683 106643685 deletion of <=200bp TAA - intron_variant SKCA-BR 6 106644720 106644720 single base substitution C T downstream_gene_variant SKCA-BR 6 106644720 106644720 single base substitution C T intron_variant SKCA-BR 6 106649729 106649729 single base substitution C T exon_variant SKCA-BR 6 106649729 106649729 single base substitution C T intron_variant SKCA-BR 6 106650131 106650131 single base substitution G A exon_variant SKCA-BR 6 106650131 106650131 single base substitution G A intron_variant SKCA-BR 6 106654523 106654524 deletion of <=200bp CA - intron_variant SKCA-BR 6 106654523 106654524 deletion of <=200bp CA - upstream_gene_variant SKCA-BR 6 106665278 106665278 single base substitution G A intron_variant SKCA-BR 6 106673784 106673784 single base substitution G A intron_variant SKCA-BR 6 106675077 106675077 single base substitution G A intron_variant SKCA-BR 6 106676987 106676987 single base substitution G A intron_variant SKCA-BR 6 106676989 106676989 single base substitution A T intron_variant SKCA-BR 6 106680524 106680524 single base substitution G A intron_variant SKCA-BR 6 106680525 106680525 single base substitution G A intron_variant SKCA-BR 6 106680692 106680692 single base substitution G A intron_variant SKCA-BR 6 106683351 106683351 single base substitution T A intron_variant SKCA-BR 6 106694246 106694246 insertion of <=200bp - GTCTC intron_variant SKCA-BR 6 106694267 106694269 deletion of <=200bp TCA - intron_variant SKCA-BR 6 106702581 106702581 single base substitution G A intron_variant SKCA-BR 6 106702978 106702978 single base substitution T C intron_variant SKCA-BR 6 106710382 106710382 single base substitution C T intron_variant SKCA-BR 6 106712041 106712041 single base substitution G A intron_variant SKCA-BR 6 106712746 106712746 single base substitution A C intron_variant SKCA-BR 6 106717582 106717582 single base substitution T G intron_variant SKCA-BR 6 106721265 106721265 single base substitution G A intron_variant SKCA-BR 6 106728116 106728116 single base substitution G A intron_variant SKCA-BR 6 106728116 106728116 single base substitution G A upstream_gene_variant SKCA-BR 6 106728117 106728117 single base substitution G A intron_variant SKCA-BR 6 106728117 106728117 single base substitution G A upstream_gene_variant SKCA-BR 6 106728166 106728166 single base substitution G A intron_variant SKCA-BR 6 106728166 106728166 single base substitution G A upstream_gene_variant SKCA-BR 6 106728170 106728170 single base substitution G A intron_variant SKCA-BR 6 106728170 106728170 single base substitution G A upstream_gene_variant SKCA-BR 6 106728175 106728175 single base substitution G A intron_variant SKCA-BR 6 106728175 106728175 single base substitution G A upstream_gene_variant SKCA-BR 6 106731916 106731916 single base substitution G A intron_variant SKCA-BR 6 106731916 106731916 single base substitution G A upstream_gene_variant SKCA-BR 6 106736809 106736809 insertion of <=200bp - ATG intron_variant SKCA-BR 6 106738979 106738979 single base substitution G A intron_variant SKCA-BR 6 106739662 106739662 single base substitution G A intron_variant SKCA-BR 6 106739897 106739897 single base substitution A C intron_variant SKCA-BR 6 106742637 106742637 single base substitution G T intron_variant SKCA-BR 6 106744680 106744680 single base substitution G A intron_variant SKCA-BR 6 106746087 106746087 single base substitution G A intron_variant SKCA-BR 6 106752966 106752967 deletion of <=200bp CA - intron_variant SKCA-BR 6 106753758 106753758 single base substitution G A intron_variant SKCA-BR 6 106755409 106755412 deletion of <=200bp CCTT - intron_variant SKCA-BR 6 106759707 106759707 insertion of <=200bp - CT intron_variant SKCA-BR 6 106763707 106763707 single base substitution T C intron_variant SKCA-BR 6 106763739 106763739 single base substitution G A intron_variant SKCA-BR 6 106764688 106764688 single base substitution A T intron_variant SKCA-BR 6 106769039 106769039 single base substitution C T intron_variant SKCA-BR 6 106769642 106769642 single base substitution T C intron_variant SKCA-BR 6 106770868 106770868 single base substitution C T intron_variant SKCA-BR 6 106770988 106770988 single base substitution A C intron_variant SKCA-BR 6 106772711 106772711 single base substitution C T intron_variant SKCA-BR 6 106773198 106773198 single base substitution A C 5_prime_UTR_variant SKCA-BR 6 106773198 106773198 single base substitution A C intron_variant SKCA-BR 6 106773696 106773696 single base substitution G A upstream_gene_variant SKCA-BR 6 106777050 106777050 insertion of <=200bp - CTG upstream_gene_variant SKCM-US 6 106696042 106696042 single base substitution G A exon_variant SKCM-US 6 106696042 106696042 single base substitution G A missense_variant P108S 322C>T SKCM-US 6 106696042 106696042 single base substitution G A missense_variant P186S 556C>T SKCM-US 6 106696042 106696042 single base substitution G A synonymous_variant S62S 186C>T SKCM-US 6 106696051 106696051 single base substitution G A exon_variant SKCM-US 6 106696051 106696051 single base substitution G A missense_variant R105C 313C>T SKCM-US 6 106696051 106696051 single base substitution G A missense_variant R183C 547C>T SKCM-US 6 106696051 106696051 single base substitution G A synonymous_variant F59F 177C>T SKCM-US 6 106740973 106740973 single base substitution G A intron_variant SKCM-US 6 106740973 106740973 single base substitution G A missense_variant P4L 11C>T SKCM-US 6 106740973 106740973 single base substitution G A missense_variant P82L 245C>T STAD-US 6 106634461 106634461 single base substitution G A 3_prime_UTR_variant STAD-US 6 106634461 106634461 single base substitution G A exon_variant STAD-US 6 106634461 106634461 single base substitution G A missense_variant P183L 548C>T STAD-US 6 106634461 106634461 single base substitution G A missense_variant P261L 782C>T STAD-US 6 106634539 106634539 deletion of <=200bp T - 3_prime_UTR_variant STAD-US 6 106634539 106634539 deletion of <=200bp T - exon_variant STAD-US 6 106634539 106634539 deletion of <=200bp T - frameshift_variant K157 STAD-US 6 106634539 106634539 deletion of <=200bp T - frameshift_variant K235 UCEC-US 6 106727697 106727697 single base substitution C A exon_variant UCEC-US 6 106727697 106727697 single base substitution C A intron_variant UCEC-US 6 106727697 106727697 single base substitution C A missense_variant S106I 317G>T UCEC-US 6 106727697 106727697 single base substitution C A missense_variant S28I 83G>T UCEC-US 6 106740903 106740903 single base substitution C A intron_variant UCEC-US 6 106740903 106740903 single base substitution C A missense_variant K105N 315G>T UCEC-US 6 106740903 106740903 single base substitution C A missense_variant K27N 81G>T UCEC-US 6 106756278 106756278 single base substitution C T intron_variant UCEC-US 6 106756278 106756278 single base substitution C T missense_variant S66N 197G>A

Mutation - COSMIC Sample Name Mutation ID Mutation CDS Mutation AA Mutation Description Mutation Genome Position Mutation Strand TCGA-DU-6404-01 COSM2152807 c.25C>T p.R9* Substitution - Nonsense 6:106316184-106316184 - 4989_PT COSM5756718 c.697G>A p.E233K Substitution - Missense 6:106186671-106186671 - TCGA-E9-A3HO-01 COSM3828716 c.577A>T p.T193S Substitution - Missense 6:106202086-106202086 - TCGA-E9-A1NF-01 COSM1487091 c.594C>T p.F198F Substitution - coding silent 6:106202069-106202069 - 37M COSM5583295 c.811C>T p.P271S Substitution - Missense 6:106186557-106186557 - TCGA-MI-A75E-01 COSM4939711 c.775A>C p.S259R Substitution - Missense 6:106186593-106186593 - TCGA-CS-5390-01 COSM1132070 c.43C>T p.R15* Substitution - Nonsense 6:106316166-106316166 - Mx42 COSM32823 c.173A>T p.K58M Substitution - Missense 6:106308427-106308427 - CSCC-4-T COSM4471092 c.169C>T p.Q57* Substitution - Nonsense 6:106308431-106308431 - HCC111T COSM5818600 c.19G>T p.V7L Substitution - Missense 6:106316190-106316190 - 4989_CLM COSM5756718 c.697G>A p.E233K Substitution - Missense 6:106186671-106186671 - 2557_PT COSM5756718 c.697G>A p.E233K Substitution - Missense 6:106186671-106186671 - TCGA-06-2562 COSM2152807 c.25C>T p.R9* Substitution - Nonsense 6:106316184-106316184 - J13_T COSM3947865 c.405A>G p.L135L Substitution - coding silent 6:106279734-106279734 - TCGA-D1-A17Q-01 COSM1071753 c.317G>T p.S106I Substitution - Missense 6:106279822-106279822 - HCC2998 COSM3154368 c.705G>T p.K235N Substitution - Missense 6:106186663-106186663 - TCGA-DU-7304-01 COSM3975703 c.463A>G p.M155V Substitution - Missense 6:106279676-106279676 - TCGA-HU-8602-01 COSM3857249 c.782C>T p.P261L Substitution - Missense 6:106186586-106186586 - TCGA-EE-A2GP-06 COSM3619213 c.547C>T p.R183C Substitution - Missense 6:106248176-106248176 - BD124T COSM3154369 c.704delA p.K235fs*4 Deletion - Frameshift 6:106186664-106186664 - TCGA-BS-A0UF-01 COSM1071755 c.197G>A p.S66N Substitution - Missense 6:106308403-106308403 - TCGA-AA-A017-01 COSM299666 c.688G>A p.E230K Substitution - Missense 6:106201975-106201975 - 8804_CLM COSM5756718 c.697G>A p.E233K Substitution - Missense 6:106186671-106186671 - TCGA-GN-A269-01 COSM3619212 c.556C>T p.P186S Substitution - Missense 6:106248167-106248167 - HCC070T COSM1132070 c.43C>T p.R15* Substitution - Nonsense 6:106316166-106316166 - 8034252 COSM3393745 c.63G>C p.T21T Substitution - coding silent 6:106316146-106316146 - TCGA-Q1-A73O-01 COSM4834689 c.397G>A p.D133N Substitution - Missense 6:106279742-106279742 - TCGA-E9-A3HO-01 COSM3828715 c.580A>T p.T194S Substitution - Missense 6:106202083-106202083 - 8052570 COSM3393744 c.724G>A p.G242R Substitution - Missense 6:106186644-106186644 - BCM275T COSM4949407 c.157A>T p.K53* Substitution - Nonsense 6:106308443-106308443 - RK207_C01 COSM3766879 c.691+9A>G p.? Unknown 6:106201963-106201963 - 035T COSM1728660 c.236+1G>C p.? Unknown 6:106308363-106308363 - SW48 COSM3154372 c.611G>A p.R204H Substitution - Missense 6:106202052-106202052 - TCGA-EE-A2GB-06 COSM3619214 c.245C>T p.P82L Substitution - Missense 6:106293098-106293098 - PTC-14C COSM4160099 c.462G>T p.W154C Substitution - Missense 6:106279677-106279677 - HCT15 COSM3154388 c.449A>G p.H150R Substitution - Missense 6:106279690-106279690 - TCGA-DK-A1AC-01 COSM1311433 c.674C>T p.S225F Substitution - Missense 6:106201989-106201989 - TCGA-EJ-5512-01 COSM1132070 c.43C>T p.R15* Substitution - Nonsense 6:106316166-106316166 - 587376 COSM1183915 c.535G>T p.E179* Substitution - Nonsense 6:106248188-106248188 - TCGA-MI-A75E-01 COSM4939747 c.770A>G p.H257R Substitution - Missense 6:106186598-106186598 - TCGA-CM-4743-01 COSM3686328 c.237-3delT p.? Unknown 6:106293109-106293109 - CSCC-55-T COSM4566316 c.346_347CC>TT p.P116L Substitution - Missense 6:106279792-106279793 - TCGA-BG-A0M4-01 COSM1071751 c.622G>A p.A208T Substitution - Missense 6:106202041-106202041 - pfg100T COSM3154372 c.611G>A p.R204H Substitution - Missense 6:106202052-106202052 - Pat_63_A COSM5869055 c.41delG p.G14fs*14 Deletion - Frameshift 6:106316168-106316168 - RK261_C01 COSM4778329 c.272C>T p.A91V Substitution - Missense 6:106293071-106293071 - TCGA-06-2562-01 COSM2152807 c.25C>T p.R9* Substitution - Nonsense 6:106316184-106316184 - SJBALL020877_D1 COSM4993872 c.230T>G p.L77R Substitution - Missense 6:106308370-106308370 - HCC102 COSM1620734 c.573+8A>G p.? Unknown 6:106248142-106248142 - TCGA-A2-A0SY-01 COSM450267 c.286C>G p.L96V Substitution - Missense 6:106293057-106293057 - HCC102T COSM1620734 c.573+8A>G p.? Unknown 6:106248142-106248142 - BCM275T COSM4949407 c.157A>T p.K53* Substitution - Nonsense 6:106308443-106308443 - TCGA-BS-A0UF-01 COSM1071754 c.315G>T p.K105N Substitution - Missense 6:106293028-106293028 -

Mutation - CGAP UNIGENE CYTOBAND OMIM SNP Hs.486048;Hs.486063 6q21 604261 2443727|CGAP|BC002699|A/T|non-coding||1588|Candidate; 2443727|CGAP|BC093011|A/T|non-coding||1669|Candidate

Mutation - IntOGen Mutated from(ref) Mutated to(alt) Consequence Type AA Mutation CDS Mutation Chr Pos Cancer C T Missense p.E230K c.688G>A 6 106649850 COREAD G A IntronicSNV . c.574-14C>T 6 106649978 CM G A Missense p.P186S c.556C>T 6 106696042 CM G A Missense p.P82L c.245C>T 6 106740973 CM G A Missense p.R183C c.547C>T 6 106696051 CM G A Nonsense p.R15* c.43C>T 6 106764041 LGG G A Nonsense p.R15* c.43C>T 6 106764041 PRAD G A Nonsense p.R9* c.25C>T 6 106764059 GBM G A Nonsense p.R9* c.25C>T 6 106764059 LGG G A Synonymous p.F198F c.594C>T 6 106649944 BRCA G C Missense p.L96V c.286C>G 6 106740932 BRCA T A 3-UTRSNV . c.825+299A>T 6 106634119 HC T A IntronicSNV . c.691+23A>T 6 106649824 NSCLC T C Missense p.M155V c.463A>G 6 106727551 LGG