Mutation - TCGA Type Chromosome Start Position End Position Strand Variant Classification Variant Type Reference Allele Tumor_seq Allele 1 Tumor_seq Allele 2 Tumor Sample Barcode Matched Norm Sample Barcode Genome Change cDNA Change Codon Change Protein Change ACC 3 33419633 33419633 + Silent SNP C C T TCGA-PK-A5HB-01A-11D-A29I-10 TCGA-PK-A5HB-11A-11D-A29L-10 g.chr3:33419633C>T c.888C>T c.(886-888)tgC>tgT p.C296C BLCA 3 33400807 33400807 + Missense_Mutation SNP C C G TCGA-DK-A1A3-01A-11D-A13W-08 TCGA-DK-A1A3-10A-01D-A13W-08 g.chr3:33400807C>G c.153C>G c.(151-153)aaC>aaG p.N51K BLCA 3 33406161 33406161 + Silent SNP G G A TCGA-E5-A4TZ-01A-11D-A31L-08 TCGA-E5-A4TZ-10B-01D-A31J-08 g.chr3:33406161G>A c.240G>A c.(238-240)ctG>ctA p.L80L BLCA 3 33414612 33414612 + Missense_Mutation SNP G G A TCGA-DK-A2I4-01A-11D-A21A-08 TCGA-DK-A2I4-10A-01D-A21A-08 g.chr3:33414612G>A c.319G>A c.(319-321)Gaa>Aaa p.E107K BLCA 3 33414761 33414761 + Silent SNP T T C TCGA-K4-A5RJ-01A-11D-A289-08 TCGA-K4-A5RJ-10A-01D-A289-08 g.chr3:33414761T>C c.369T>C c.(367-369)taT>taC p.Y123Y BLCA 3 33415118 33415118 + Missense_Mutation SNP G G C TCGA-DK-AA71-01A-31D-A391-08 TCGA-DK-AA71-10A-01D-A394-08 g.chr3:33415118G>C c.504G>C c.(502-504)caG>caC p.Q168H BLCA 3 33416785 33416785 + Silent SNP C C T TCGA-CU-A3YL-01A-11D-A22Z-08 TCGA-CU-A3YL-10A-01D-A22Z-08 g.chr3:33416785C>T c.663C>T c.(661-663)atC>atT p.I221I BLCA 3 33425582 33425582 + Silent SNP C C T TCGA-XF-AAML-01A-11D-A42E-08 TCGA-XF-AAML-10A-01D-A42H-08 g.chr3:33425582C>T c.1053C>T c.(1051-1053)tgC>tgT p.C351C BLCA 3 33425616 33425616 + Missense_Mutation SNP G G C TCGA-LT-A5Z6-01A-11D-A289-08 TCGA-LT-A5Z6-10A-01D-A289-08 g.chr3:33425616G>C c.1087G>C c.(1087-1089)Gag>Cag p.E363Q BLCA 3 33427032 33427032 + IGR SNP C C T TCGA-GV-A6ZA-01A-12D-A339-08 TCGA-GV-A6ZA-10A-01D-A339-08 g.chr3:33427032C>T BLCA 3 33427033 33427033 + IGR SNP C C T TCGA-GV-A6ZA-01A-12D-A339-08 TCGA-GV-A6ZA-10A-01D-A339-08 g.chr3:33427033C>T BRCA 3 33406169 33406169 + Missense_Mutation SNP T T G TCGA-EW-A1P3-01A-11D-A142-09 TCGA-EW-A1P3-10A-01D-A142-09 g.chr3:33406169T>G c.248T>G c.(247-249)cTc>cGc p.L83R BRCA 3 33414628 33414628 + Missense_Mutation SNP A A G TCGA-AC-A3TN-01A-11D-A228-09 TCGA-AC-A3TN-10A-01D-A22A-09 g.chr3:33414628A>G c.335A>G c.(334-336)aAt>aGt p.N112S BRCA 3 33416839 33416839 + Silent SNP C C T TCGA-AR-A2LN-01A-21D-A18P-09 TCGA-AR-A2LN-10A-01D-A18P-09 g.chr3:33416839C>T c.717C>T c.(715-717)ctC>ctT p.L239L BRCA 3 33416911 33416911 + Splice_Site SNP G G T TCGA-A2-A4S3-01A-21D-A25Q-09 TCGA-A2-A4S3-10A-01D-A25Q-09 g.chr3:33416911G>T c.e10+1 BRCA 3 33420176 33420176 + Splice_Site SNP G G C TCGA-BH-A18P-01A-11D-A12B-09 TCGA-BH-A18P-11A-43D-A12B-09 g.chr3:33420176G>C c.e13-1 CESC 3 33406150 33406150 + De_novo_Start_OutOfFrame SNP G G A TCGA-EK-A2RE-01A-11D-A18J-09 TCGA-EK-A2RE-10A-01D-A18J-09 g.chr3:33406150G>A COAD 3 33400460 33400460 + Splice_Site SNP A A G TCGA-AA-3538-01A-01W-0831-10 TCGA-AA-3538-10A-01W-0831-10 g.chr3:33400460A>G c.67A>G c.(67-69)Ata>Gta p.I23V COAD 3 33400494 33400494 + De_novo_Start_OutOfFrame SNP G G A TCGA-AA-3976-01A-01W-0995-10 TCGA-AA-3976-10A-01W-0999-10 g.chr3:33400494G>A COAD 3 33406139 33406139 + Missense_Mutation SNP C C T TCGA-AA-A00N-01A-02W-A00E-09 TCGA-AA-A00N-10A-01W-A00E-09 g.chr3:33406139C>T c.218C>T c.(217-219)tCg>tTg p.S73L COAD 3 33406149 33406149 + Silent SNP C C T TCGA-G4-6628-01A-11D-1835-10 TCGA-G4-6628-10A-01D-1835-10 g.chr3:33406149C>T c.228C>T c.(226-228)tgC>tgT p.C76C COAD 3 33414638 33414638 + Frame_Shift_Del DEL A A - TCGA-AU-6004-01A-11D-1719-10 TCGA-AU-6004-10A-01D-1719-10 g.chr3:33414638delA c.345delA c.(343-345)acafs p.T115fs COAD 3 33414638 33414638 + Frame_Shift_Del DEL A A - TCGA-CK-5913-01A-11D-1650-10 TCGA-CK-5913-10A-01D-1650-10 g.chr3:33414638delA c.345delA c.(343-345)acafs p.T115fs COAD 3 33415148 33415148 + Silent SNP G G A TCGA-A6-2676-01A-01W-0833-10 TCGA-A6-2676-10A-01W-0833-10 g.chr3:33415148G>A c.534G>A c.(532-534)gtG>gtA p.V178V COAD 3 33416890 33416890 + Silent SNP T T C TCGA-AA-3811-01A-01W-0995-10 TCGA-AA-3811-10A-01W-0995-10 g.chr3:33416890T>C c.768T>C c.(766-768)ggT>ggC p.G256G COAD 3 33427046 33427046 + IGR SNP G G A TCGA-D5-6540-01A-11D-1719-10 TCGA-D5-6540-10A-01D-1719-10 g.chr3:33427046G>A COADREAD 3 33400460 33400460 + Splice_Site SNP A A G TCGA-AA-3538-01A-01W-0831-10 TCGA-AA-3538-10A-01W-0831-10 g.chr3:33400460A>G c.67A>G c.(67-69)Ata>Gta p.I23V COADREAD 3 33400494 33400494 + De_novo_Start_OutOfFrame SNP G G A TCGA-AA-3976-01A-01W-0995-10 TCGA-AA-3976-10A-01W-0999-10 g.chr3:33400494G>A COADREAD 3 33406139 33406139 + Missense_Mutation SNP C C T TCGA-AA-A00N-01A-02W-A00E-09 TCGA-AA-A00N-10A-01W-A00E-09 g.chr3:33406139C>T c.218C>T c.(217-219)tCg>tTg p.S73L COADREAD 3 33406149 33406149 + Silent SNP C C T TCGA-G4-6628-01A-11D-1835-10 TCGA-G4-6628-10A-01D-1835-10 g.chr3:33406149C>T c.228C>T c.(226-228)tgC>tgT p.C76C COADREAD 3 33414638 33414638 + Frame_Shift_Del DEL A A - TCGA-AU-6004-01A-11D-1719-10 TCGA-AU-6004-10A-01D-1719-10 g.chr3:33414638delA c.345delA c.(343-345)acafs p.T115fs COADREAD 3 33414638 33414638 + Frame_Shift_Del DEL A A - TCGA-CK-5913-01A-11D-1650-10 TCGA-CK-5913-10A-01D-1650-10 g.chr3:33414638delA c.345delA c.(343-345)acafs p.T115fs COADREAD 3 33415148 33415148 + Silent SNP G G A TCGA-A6-2676-01A-01W-0833-10 TCGA-A6-2676-10A-01W-0833-10 g.chr3:33415148G>A c.534G>A c.(532-534)gtG>gtA p.V178V COADREAD 3 33416890 33416890 + Silent SNP T T C TCGA-AA-3811-01A-01W-0995-10 TCGA-AA-3811-10A-01W-0995-10 g.chr3:33416890T>C c.768T>C c.(766-768)ggT>ggC p.G256G COADREAD 3 33420182 33420182 + Silent SNP C C T TCGA-AG-4005-01A-01W-1073-09 TCGA-AG-4005-10A-01W-1073-09 g.chr3:33420182C>T c.900C>T c.(898-900)acC>acT p.T300T COADREAD 3 33427020 33427020 + IGR SNP G G A TCGA-EI-6507-01A-11D-1733-10 TCGA-EI-6507-10A-01D-1733-10 g.chr3:33427020G>A COADREAD 3 33427046 33427046 + IGR SNP G G A TCGA-D5-6540-01A-11D-1719-10 TCGA-D5-6540-10A-01D-1719-10 g.chr3:33427046G>A ESCA 3 33406164 33406164 + Silent SNP G G A TCGA-L5-A88V-01A-11D-A351-09 TCGA-L5-A88V-11A-11D-A351-09 g.chr3:33406164G>A c.243G>A c.(241-243)agG>agA p.R81R GBM 3 33415165 33415165 + Missense_Mutation SNP T T G TCGA-76-4934-01A-01D-1486-08 TCGA-76-4934-10A-01D-1486-08 g.chr3:33415165T>G c.551T>G c.(550-552)cTg>cGg p.L184R GBMLGG 3 33415165 33415165 + Missense_Mutation SNP T T G TCGA-76-4934-01A-01D-1486-08 TCGA-76-4934-10A-01D-1486-08 g.chr3:33415165T>G c.551T>G c.(550-552)cTg>cGg p.L184R GBMLGG 3 33416806 33416806 + Missense_Mutation SNP G G T TCGA-DU-6392-01A-11D-1705-08 TCGA-DU-6392-10A-01D-1705-08 g.chr3:33416806G>T c.684G>T c.(682-684)caG>caT p.Q228H GBMLGG 3 33418801 33418801 + Silent SNP C C T TCGA-DU-6392-01A-11D-1705-08 TCGA-DU-6392-10A-01D-1705-08 g.chr3:33418801C>T c.825C>T c.(823-825)gaC>gaT p.D275D HNSC 3 33425643 33425643 + Nonsense_Mutation SNP G G T TCGA-BA-5151-01A-01D-1434-08 TCGA-BA-5151-10A-01D-1434-08 g.chr3:33425643G>T c.1114G>T c.(1114-1116)Gag>Tag p.E372* HNSC 3 33425659 33425659 + Missense_Mutation SNP A A G TCGA-P3-A5QF-01A-11D-A28R-08 TCGA-P3-A5QF-10A-01D-A28U-08 g.chr3:33425659A>G c.1130A>G c.(1129-1131)cAg>cGg p.Q377R HNSC 3 33427049 33427049 + IGR SNP A A G TCGA-BA-4075-01A-01D-1434-08 TCGA-BA-4075-10A-01D-1434-08 g.chr3:33427049A>G KIPAN 3 33415410 33415410 + Silent SNP C C T TCGA-GL-A59T-01A-21D-A28G-10 TCGA-GL-A59T-10A-01D-A28G-10 g.chr3:33415410C>T c.654C>T c.(652-654)tgC>tgT p.C218C KIRP 3 33415410 33415410 + Silent SNP C C T TCGA-GL-A59T-01A-21D-A28G-10 TCGA-GL-A59T-10A-01D-A28G-10 g.chr3:33415410C>T c.654C>T c.(652-654)tgC>tgT p.C218C LGG 3 33416806 33416806 + Missense_Mutation SNP G G T TCGA-DU-6392-01A-11D-1705-08 TCGA-DU-6392-10A-01D-1705-08 g.chr3:33416806G>T c.684G>T c.(682-684)caG>caT p.Q228H LGG 3 33418801 33418801 + Silent SNP C C T TCGA-DU-6392-01A-11D-1705-08 TCGA-DU-6392-10A-01D-1705-08 g.chr3:33418801C>T c.825C>T c.(823-825)gaC>gaT p.D275D LUAD 3 33415414 33415414 + Splice_Site SNP G G T TCGA-55-A4DF-01A-11D-A24D-08 TCGA-55-A4DF-10A-01D-A24F-08 g.chr3:33415414G>T c.e9+1 LUAD 3 33419616 33419616 + Missense_Mutation SNP A A C TCGA-95-7039-01A-11D-1945-08 TCGA-95-7039-10A-01D-1946-08 g.chr3:33419616A>C c.871A>C c.(871-873)Atg>Ctg p.M291L LUSC 3 33400471 33400471 + Missense_Mutation SNP C C G TCGA-66-2786-01A-01D-1522-08 TCGA-66-2786-11A-01D-1522-08 g.chr3:33400471C>G c.78C>G c.(76-78)ttC>ttG p.F26L PAAD 3 33400492 33400492 + Silent SNP C C T TCGA-YH-A8SY-01A-11D-A377-08 TCGA-YH-A8SY-10A-01D-A37A-08 g.chr3:33400492C>T c.99C>T c.(97-99)tgC>tgT p.C33C PAAD 3 33415414 33415414 + Splice_Site SNP G G A TCGA-IB-7651-01A-11D-2154-08 TCGA-IB-7651-10A-01D-2154-08 g.chr3:33415414G>A c.e9+1 PRAD 3 33400492 33400492 + Silent SNP C C T TCGA-EJ-5509-01A-01D-1576-08 TCGA-EJ-5509-10A-01D-1577-08 g.chr3:33400492C>T c.99C>T c.(97-99)tgC>tgT p.C33C PRAD 3 33414823 33414823 + Missense_Mutation SNP C C A TCGA-EJ-7321-01A-31D-2260-08 TCGA-EJ-7321-10A-01D-2260-08 g.chr3:33414823C>A c.431C>A c.(430-432)aCa>aAa p.T144K PRAD 3 33415377 33415377 + Silent SNP C C T TCGA-XK-AAIW-01A-11D-A41K-08 TCGA-XK-AAIW-10A-01D-A41N-08 g.chr3:33415377C>T c.621C>T c.(619-621)tgC>tgT p.C207C READ 3 33420182 33420182 + Silent SNP C C T TCGA-AG-4005-01A-01W-1073-09 TCGA-AG-4005-10A-01W-1073-09 g.chr3:33420182C>T c.900C>T c.(898-900)acC>acT p.T300T READ 3 33427020 33427020 + IGR SNP G G A TCGA-EI-6507-01A-11D-1733-10 TCGA-EI-6507-10A-01D-1733-10 g.chr3:33427020G>A SKCM 3 33400467 33400467 + Missense_Mutation SNP C C T TCGA-EE-A2MD-06A-11D-A197-08 TCGA-EE-A2MD-10A-01D-A199-08 g.chr3:33400467C>T c.74C>T c.(73-75)tCc>tTc p.S25F SKCM 3 33400823 33400823 + Missense_Mutation SNP C C T TCGA-FS-A1ZA-06A-11D-A197-08 TCGA-FS-A1ZA-10A-01D-A199-08 g.chr3:33400823C>T c.169C>T c.(169-171)Ctt>Ttt p.L57F SKCM 3 33400835 33400835 + Nonsense_Mutation SNP C C T TCGA-ER-A19E-06A-11D-A197-08 TCGA-ER-A19E-10A-01D-A199-08 g.chr3:33400835C>T c.181C>T c.(181-183)Caa>Taa p.Q61* SKCM 3 33425589 33425589 + Missense_Mutation SNP A A G TCGA-EE-A183-06A-11D-A196-08 TCGA-EE-A183-10A-01D-A198-08 g.chr3:33425589A>G c.1060A>G c.(1060-1062)Atc>Gtc p.I354V

Mutation - ICGC Project Code Chromosome Chromosome Start Chromosome End Mutation Type Mutated from Allele Mutated to Allele Consequence Type AA Mutation CDS Mutation BLCA-US 3 33400807 33400807 single base substitution C G 3_prime_UTR_variant BLCA-US 3 33400807 33400807 single base substitution C G 5_prime_UTR_variant BLCA-US 3 33400807 33400807 single base substitution C G exon_variant BLCA-US 3 33400807 33400807 single base substitution C G intron_variant BLCA-US 3 33400807 33400807 single base substitution C G missense_variant N51K 153C>G BLCA-US 3 33414612 33414612 single base substitution G A 3_prime_UTR_variant BLCA-US 3 33414612 33414612 single base substitution G A 5_prime_UTR_variant BLCA-US 3 33414612 33414612 single base substitution G A exon_variant BLCA-US 3 33414612 33414612 single base substitution G A missense_variant E107K 319G>A BLCA-US 3 33414612 33414612 single base substitution G A missense_variant E23K 67G>A BLCA-US 3 33414612 33414612 single base substitution G A upstream_gene_variant BLCA-US 3 33416785 33416785 single base substitution C T 3_prime_UTR_variant BLCA-US 3 33416785 33416785 single base substitution C T 5_prime_UTR_variant BLCA-US 3 33416785 33416785 single base substitution C T downstream_gene_variant BLCA-US 3 33416785 33416785 single base substitution C T exon_variant BLCA-US 3 33416785 33416785 single base substitution C T synonymous_variant I137I 411C>T BLCA-US 3 33416785 33416785 single base substitution C T synonymous_variant I153I 459C>T BLCA-US 3 33416785 33416785 single base substitution C T synonymous_variant I221I 663C>T BLCA-US 3 33434926 33434926 single base substitution C T intron_variant BRCA-EU 3 33313789 33313789 single base substitution C G upstream_gene_variant BRCA-EU 3 33314330 33314330 single base substitution C T upstream_gene_variant BRCA-EU 3 33315514 33315514 deletion of <=200bp A - upstream_gene_variant BRCA-EU 3 33316071 33316071 single base substitution C G upstream_gene_variant BRCA-EU 3 33319198 33319198 single base substitution G A intron_variant BRCA-EU 3 33319198 33319198 single base substitution G A upstream_gene_variant BRCA-EU 3 33319375 33319375 single base substitution T C intron_variant BRCA-EU 3 33319375 33319375 single base substitution T C upstream_gene_variant BRCA-EU 3 33321082 33321082 single base substitution T C intron_variant BRCA-EU 3 33321772 33321787 deletion of <=200bp TTGTGTGAATCACAAA - intron_variant BRCA-EU 3 33325183 33325183 single base substitution G T intron_variant BRCA-EU 3 33325589 33325589 single base substitution G C intron_variant BRCA-EU 3 33327266 33327266 single base substitution C A intron_variant BRCA-EU 3 33327266 33327266 single base substitution C A upstream_gene_variant BRCA-EU 3 33327414 33327414 single base substitution C G intron_variant BRCA-EU 3 33327414 33327414 single base substitution C G upstream_gene_variant BRCA-EU 3 33327820 33327820 single base substitution C G intron_variant BRCA-EU 3 33327820 33327820 single base substitution C G upstream_gene_variant BRCA-EU 3 33328663 33328663 deletion of <=200bp T - intron_variant BRCA-EU 3 33328663 33328663 deletion of <=200bp T - upstream_gene_variant BRCA-EU 3 33328663 33328663 insertion of <=200bp - T intron_variant BRCA-EU 3 33328663 33328663 insertion of <=200bp - T upstream_gene_variant BRCA-EU 3 33329314 33329314 single base substitution C T intron_variant BRCA-EU 3 33329314 33329314 single base substitution C T upstream_gene_variant BRCA-EU 3 33329547 33329547 single base substitution C G intron_variant BRCA-EU 3 33329547 33329547 single base substitution C G upstream_gene_variant BRCA-EU 3 33330547 33330547 single base substitution G C intron_variant BRCA-EU 3 33330547 33330547 single base substitution G C upstream_gene_variant BRCA-EU 3 33331466 33331466 single base substitution G C intron_variant BRCA-EU 3 33332199 33332199 single base substitution A G intron_variant BRCA-EU 3 33335558 33335558 single base substitution G A intron_variant BRCA-EU 3 33335687 33335687 single base substitution C T intron_variant BRCA-EU 3 33336481 33336481 single base substitution A G intron_variant BRCA-EU 3 33337361 33337361 single base substitution C G intron_variant BRCA-EU 3 33337892 33337892 deletion of <=200bp T - intron_variant BRCA-EU 3 33338035 33338035 deletion of <=200bp T - intron_variant BRCA-EU 3 33338187 33338187 single base substitution T G intron_variant BRCA-EU 3 33339778 33339778 single base substitution G C intron_variant BRCA-EU 3 33339867 33339867 single base substitution G C intron_variant BRCA-EU 3 33340076 33340076 single base substitution G C intron_variant BRCA-EU 3 33340482 33340482 single base substitution C T intron_variant BRCA-EU 3 33342317 33342317 single base substitution C T intron_variant BRCA-EU 3 33342643 33342643 single base substitution C T intron_variant BRCA-EU 3 33345207 33345207 single base substitution G A intron_variant BRCA-EU 3 33346257 33346257 single base substitution G C intron_variant BRCA-EU 3 33346267 33346267 single base substitution G C intron_variant BRCA-EU 3 33348422 33348422 single base substitution C G intron_variant BRCA-EU 3 33348976 33348976 single base substitution A G intron_variant BRCA-EU 3 33349348 33349348 single base substitution C T intron_variant BRCA-EU 3 33349599 33349599 single base substitution C T intron_variant BRCA-EU 3 33350726 33350726 single base substitution G A intron_variant BRCA-EU 3 33352453 33352453 single base substitution G T intron_variant BRCA-EU 3 33352489 33352489 single base substitution G A intron_variant BRCA-EU 3 33352686 33352686 single base substitution C G intron_variant BRCA-EU 3 33352941 33352941 single base substitution G A intron_variant BRCA-EU 3 33352941 33352941 single base substitution G C intron_variant BRCA-EU 3 33352996 33352996 single base substitution G A intron_variant BRCA-EU 3 33354445 33354445 single base substitution T G intron_variant BRCA-EU 3 33356786 33356786 single base substitution G C intron_variant BRCA-EU 3 33357432 33357432 single base substitution G A intron_variant BRCA-EU 3 33358123 33358123 single base substitution A G intron_variant BRCA-EU 3 33360236 33360236 single base substitution A T intron_variant BRCA-EU 3 33361047 33361047 single base substitution C G intron_variant BRCA-EU 3 33361288 33361288 single base substitution C G intron_variant BRCA-EU 3 33361874 33361874 deletion of <=200bp A - intron_variant BRCA-EU 3 33363186 33363186 single base substitution G A intron_variant BRCA-EU 3 33364105 33364119 deletion of <=200bp ATGTGTCATTTAGGA - intron_variant BRCA-EU 3 33365703 33365703 single base substitution C T intron_variant BRCA-EU 3 33366437 33366437 insertion of <=200bp - T intron_variant BRCA-EU 3 33369649 33369649 single base substitution A G intron_variant BRCA-EU 3 33370623 33370623 single base substitution G T intron_variant BRCA-EU 3 33370778 33370778 single base substitution G C intron_variant BRCA-EU 3 33371219 33371219 single base substitution C T intron_variant BRCA-EU 3 33373559 33373559 single base substitution G T intron_variant BRCA-EU 3 33374631 33374631 single base substitution T C intron_variant BRCA-EU 3 33374789 33374789 single base substitution G A intron_variant BRCA-EU 3 33376423 33376423 deletion of <=200bp C - intron_variant BRCA-EU 3 33377919 33377919 single base substitution T C intron_variant BRCA-EU 3 33378411 33378411 single base substitution C A intron_variant BRCA-EU 3 33378455 33378455 single base substitution G C intron_variant BRCA-EU 3 33378980 33378980 single base substitution C A intron_variant BRCA-EU 3 33379129 33379129 single base substitution A C intron_variant BRCA-EU 3 33381793 33381793 single base substitution C T intron_variant BRCA-EU 3 33383600 33383600 single base substitution C A intron_variant BRCA-EU 3 33383973 33383973 single base substitution C T intron_variant BRCA-EU 3 33387348 33387348 single base substitution C A intron_variant BRCA-EU 3 33387819 33387819 single base substitution T C intron_variant BRCA-EU 3 33389638 33389638 single base substitution C T intron_variant BRCA-EU 3 33389664 33389664 single base substitution C A intron_variant BRCA-EU 3 33389879 33389879 single base substitution C A intron_variant BRCA-EU 3 33392740 33392740 single base substitution G A intron_variant BRCA-EU 3 33392981 33392981 single base substitution A G intron_variant BRCA-EU 3 33392997 33392997 single base substitution C G intron_variant BRCA-EU 3 33394062 33394062 single base substitution G A intron_variant BRCA-EU 3 33395324 33395324 single base substitution G A intron_variant BRCA-EU 3 33396449 33396449 deletion of <=200bp T - intron_variant BRCA-EU 3 33398719 33398719 deletion of <=200bp G - intron_variant BRCA-EU 3 33399183 33399183 single base substitution G A intron_variant BRCA-EU 3 33399695 33399695 single base substitution C T intron_variant BRCA-EU 3 33400835 33400835 single base substitution C G 3_prime_UTR_variant BRCA-EU 3 33400835 33400835 single base substitution C G 5_prime_UTR_premature_start_codon_gain_variant BRCA-EU 3 33400835 33400835 single base substitution C G exon_variant BRCA-EU 3 33400835 33400835 single base substitution C G intron_variant BRCA-EU 3 33400835 33400835 single base substitution C G missense_variant Q61E 181C>G BRCA-EU 3 33400835 33400835 single base substitution C G upstream_gene_variant BRCA-EU 3 33401709 33401709 insertion of <=200bp - T downstream_gene_variant BRCA-EU 3 33401709 33401709 insertion of <=200bp - T intron_variant BRCA-EU 3 33401709 33401709 insertion of <=200bp - T upstream_gene_variant BRCA-EU 3 33401867 33401867 single base substitution G C downstream_gene_variant BRCA-EU 3 33401867 33401867 single base substitution G C intron_variant BRCA-EU 3 33401867 33401867 single base substitution G C upstream_gene_variant BRCA-EU 3 33405261 33405261 single base substitution A G downstream_gene_variant BRCA-EU 3 33405261 33405261 single base substitution A G intron_variant BRCA-EU 3 33405261 33405261 single base substitution A G upstream_gene_variant BRCA-EU 3 33405450 33405450 single base substitution A T downstream_gene_variant BRCA-EU 3 33405450 33405450 single base substitution A T intron_variant BRCA-EU 3 33405450 33405450 single base substitution A T upstream_gene_variant BRCA-EU 3 33406507 33406507 single base substitution A G intron_variant BRCA-EU 3 33406594 33406594 single base substitution T A intron_variant BRCA-EU 3 33407041 33407041 single base substitution G T intron_variant BRCA-EU 3 33407317 33407317 single base substitution G A intron_variant BRCA-EU 3 33408282 33408282 single base substitution C A intron_variant BRCA-EU 3 33410098 33410098 deletion of <=200bp T - intron_variant BRCA-EU 3 33410098 33410098 deletion of <=200bp T - upstream_gene_variant BRCA-EU 3 33410662 33410662 single base substitution G C intron_variant BRCA-EU 3 33410662 33410662 single base substitution G C upstream_gene_variant BRCA-EU 3 33414152 33414152 single base substitution C G exon_variant BRCA-EU 3 33414152 33414152 single base substitution C G intron_variant BRCA-EU 3 33414152 33414152 single base substitution C G upstream_gene_variant BRCA-EU 3 33420286 33420286 single base substitution C T 3_prime_UTR_variant BRCA-EU 3 33420286 33420286 single base substitution C T downstream_gene_variant BRCA-EU 3 33420286 33420286 single base substitution C T intron_variant BRCA-EU 3 33420286 33420286 single base substitution C T missense_variant S45F 134C>T BRCA-EU 3 33420286 33420286 single base substitution C T upstream_gene_variant BRCA-EU 3 33421021 33421021 single base substitution A G downstream_gene_variant BRCA-EU 3 33421021 33421021 single base substitution A G intron_variant BRCA-EU 3 33421021 33421021 single base substitution A G upstream_gene_variant BRCA-EU 3 33421716 33421716 single base substitution A C downstream_gene_variant BRCA-EU 3 33421716 33421716 single base substitution A C intron_variant BRCA-EU 3 33421716 33421716 single base substitution A C upstream_gene_variant BRCA-EU 3 33423056 33423056 single base substitution C T intron_variant BRCA-EU 3 33423056 33423056 single base substitution C T upstream_gene_variant BRCA-EU 3 33423829 33423829 single base substitution A G intron_variant BRCA-EU 3 33423829 33423829 single base substitution A G upstream_gene_variant BRCA-EU 3 33424222 33424222 single base substitution C G exon_variant BRCA-EU 3 33424222 33424222 single base substitution C G intron_variant BRCA-EU 3 33425634 33425634 single base substitution G A 3_prime_UTR_variant BRCA-EU 3 33425634 33425634 single base substitution G A exon_variant BRCA-EU 3 33425634 33425634 single base substitution G A missense_variant E110K 328G>A BRCA-EU 3 33425634 33425634 single base substitution G A missense_variant E285K 853G>A BRCA-EU 3 33425634 33425634 single base substitution G A missense_variant E301K 901G>A BRCA-EU 3 33425634 33425634 single base substitution G A missense_variant E369K 1105G>A BRCA-EU 3 33425634 33425634 single base substitution G A missense_variant E79K 235G>A BRCA-EU 3 33428635 33428635 single base substitution A C 3_prime_UTR_variant BRCA-EU 3 33428635 33428635 single base substitution A C downstream_gene_variant BRCA-EU 3 33428635 33428635 single base substitution A C intron_variant BRCA-EU 3 33429259 33429259 single base substitution G T 3_prime_UTR_variant BRCA-EU 3 33429259 33429259 single base substitution G T downstream_gene_variant BRCA-EU 3 33429259 33429259 single base substitution G T intron_variant BRCA-EU 3 33431561 33431561 single base substitution G A downstream_gene_variant BRCA-EU 3 33431561 33431561 single base substitution G A intron_variant BRCA-EU 3 33432026 33432026 deletion of <=200bp A - downstream_gene_variant BRCA-EU 3 33432026 33432026 deletion of <=200bp A - intron_variant BRCA-EU 3 33433241 33433241 single base substitution G C downstream_gene_variant BRCA-EU 3 33433241 33433241 single base substitution G C intron_variant BRCA-EU 3 33434265 33434265 single base substitution G A downstream_gene_variant BRCA-EU 3 33434265 33434265 single base substitution G A intron_variant BRCA-EU 3 33435121 33435121 single base substitution G C intron_variant BRCA-EU 3 33435972 33435972 single base substitution G T intron_variant BRCA-EU 3 33436525 33436525 single base substitution C A intron_variant BRCA-EU 3 33436813 33436813 single base substitution T C intron_variant BRCA-EU 3 33438840 33438840 single base substitution C T intron_variant BRCA-EU 3 33440077 33440077 single base substitution C T intron_variant BRCA-EU 3 33441962 33441962 single base substitution A T intron_variant BRCA-EU 3 33442280 33442280 deletion of <=200bp A - intron_variant BRCA-EU 3 33446137 33446137 single base substitution C G downstream_gene_variant BRCA-EU 3 33446547 33446547 single base substitution G A downstream_gene_variant BRCA-EU 3 33447502 33447502 insertion of <=200bp - A downstream_gene_variant BRCA-EU 3 33449342 33449342 single base substitution T C downstream_gene_variant BRCA-FR 3 33314145 33314145 single base substitution G T upstream_gene_variant BRCA-FR 3 33340227 33340227 single base substitution G A intron_variant BRCA-FR 3 33346257 33346257 single base substitution G C intron_variant BRCA-FR 3 33346267 33346267 single base substitution G C intron_variant BRCA-FR 3 33348422 33348422 single base substitution C G intron_variant BRCA-FR 3 33365703 33365703 single base substitution C T intron_variant BRCA-FR 3 33370778 33370778 single base substitution G C intron_variant BRCA-FR 3 33371819 33371819 single base substitution G C intron_variant BRCA-FR 3 33379129 33379129 single base substitution A C intron_variant BRCA-FR 3 33383600 33383600 single base substitution C A intron_variant BRCA-FR 3 33400835 33400835 single base substitution C G 3_prime_UTR_variant BRCA-FR 3 33400835 33400835 single base substitution C G 5_prime_UTR_premature_start_codon_gain_variant BRCA-FR 3 33400835 33400835 single base substitution C G exon_variant BRCA-FR 3 33400835 33400835 single base substitution C G intron_variant BRCA-FR 3 33400835 33400835 single base substitution C G missense_variant Q61E 181C>G BRCA-FR 3 33400835 33400835 single base substitution C G upstream_gene_variant BRCA-FR 3 33415187 33415187 single base substitution C T 3_prime_UTR_variant BRCA-FR 3 33415187 33415187 single base substitution C T 5_prime_UTR_premature_start_codon_gain_variant BRCA-FR 3 33415187 33415187 single base substitution C T downstream_gene_variant BRCA-FR 3 33415187 33415187 single base substitution C T exon_variant BRCA-FR 3 33415187 33415187 single base substitution C T intron_variant BRCA-FR 3 33415187 33415187 single base substitution C T synonymous_variant G107G 321C>T BRCA-FR 3 33415187 33415187 single base substitution C T synonymous_variant G191G 573C>T BRCA-FR 3 33430614 33430614 single base substitution C T downstream_gene_variant BRCA-FR 3 33430614 33430614 single base substitution C T intron_variant BRCA-FR 3 33435121 33435121 single base substitution G C intron_variant BRCA-KR 3 33339148 33339148 single base substitution C T splice_region_variant BRCA-KR 3 33438297 33438297 single base substitution G T intron_variant BRCA-UK 3 33332199 33332199 single base substitution A G intron_variant BRCA-UK 3 33374091 33374091 single base substitution G C intron_variant BRCA-UK 3 33379096 33379096 single base substitution G T intron_variant BRCA-UK 3 33400163 33400163 single base substitution C G intron_variant BRCA-UK 3 33436525 33436525 single base substitution C A intron_variant BRCA-UK 3 33442456 33442456 single base substitution C T intron_variant BRCA-US 3 33406169 33406169 single base substitution T G 3_prime_UTR_variant BRCA-US 3 33406169 33406169 single base substitution T G 5_prime_UTR_variant BRCA-US 3 33406169 33406169 single base substitution T G exon_variant BRCA-US 3 33406169 33406169 single base substitution T G intron_variant BRCA-US 3 33406169 33406169 single base substitution T G missense_variant L83R 248T>G BRCA-US 3 33414628 33414628 single base substitution A G 3_prime_UTR_variant BRCA-US 3 33414628 33414628 single base substitution A G 5_prime_UTR_variant BRCA-US 3 33414628 33414628 single base substitution A G exon_variant BRCA-US 3 33414628 33414628 single base substitution A G missense_variant N112S 335A>G BRCA-US 3 33414628 33414628 single base substitution A G missense_variant N28S 83A>G BRCA-US 3 33414628 33414628 single base substitution A G upstream_gene_variant BRCA-US 3 33416839 33416839 single base substitution C T 3_prime_UTR_variant BRCA-US 3 33416839 33416839 single base substitution C T 5_prime_UTR_premature_start_codon_gain_variant BRCA-US 3 33416839 33416839 single base substitution C T downstream_gene_variant BRCA-US 3 33416839 33416839 single base substitution C T exon_variant BRCA-US 3 33416839 33416839 single base substitution C T synonymous_variant L155L 465C>T BRCA-US 3 33416839 33416839 single base substitution C T synonymous_variant L171L 513C>T BRCA-US 3 33416839 33416839 single base substitution C T synonymous_variant L239L 717C>T BRCA-US 3 33416911 33416911 single base substitution G T downstream_gene_variant BRCA-US 3 33416911 33416911 single base substitution G T splice_donor_variant BRCA-US 3 33420176 33420176 single base substitution G C downstream_gene_variant BRCA-US 3 33420176 33420176 single base substitution G C splice_acceptor_variant BRCA-US 3 33420176 33420176 single base substitution G C upstream_gene_variant BRCA-US 3 33420262 33420262 single base substitution A C 3_prime_UTR_variant BRCA-US 3 33420262 33420262 single base substitution A C downstream_gene_variant BRCA-US 3 33420262 33420262 single base substitution A C intron_variant BRCA-US 3 33420262 33420262 single base substitution A C missense_variant H37P 110A>C BRCA-US 3 33420262 33420262 single base substitution A C upstream_gene_variant BRCA-US 3 33434910 33434910 single base substitution G A intron_variant BTCA-JP 3 33339137 33339138 deletion of <=200bp TT - intron_variant BTCA-JP 3 33415132 33415132 single base substitution G A 3_prime_UTR_variant BTCA-JP 3 33415132 33415132 single base substitution G A 5_prime_UTR_variant BTCA-JP 3 33415132 33415132 single base substitution G A downstream_gene_variant BTCA-JP 3 33415132 33415132 single base substitution G A exon_variant BTCA-JP 3 33415132 33415132 single base substitution G A intron_variant BTCA-JP 3 33415132 33415132 single base substitution G A missense_variant G173D 518G>A BTCA-JP 3 33415132 33415132 single base substitution G A missense_variant G89D 266G>A BTCA-JP 3 33418590 33418590 single base substitution T C downstream_gene_variant BTCA-JP 3 33418590 33418590 single base substitution T C intron_variant BTCA-JP 3 33438491 33438491 single base substitution G C intron_variant CESC-US 3 33406150 33406150 single base substitution G A 3_prime_UTR_variant CESC-US 3 33406150 33406150 single base substitution G A 5_prime_UTR_variant CESC-US 3 33406150 33406150 single base substitution G A exon_variant CESC-US 3 33406150 33406150 single base substitution G A intron_variant CESC-US 3 33406150 33406150 single base substitution G A missense_variant G77S 229G>A CLLE-ES 3 33321996 33321996 single base substitution T C intron_variant CLLE-ES 3 33329279 33329279 single base substitution C T intron_variant CLLE-ES 3 33329279 33329279 single base substitution C T upstream_gene_variant CLLE-ES 3 33373337 33373337 single base substitution T C intron_variant CLLE-ES 3 33418484 33418484 single base substitution G A downstream_gene_variant CLLE-ES 3 33418484 33418484 single base substitution G A intron_variant CLLE-ES 3 33437281 33437281 single base substitution A G intron_variant CLLE-ES 3 33444987 33444987 insertion of <=200bp - TC exon_variant COAD-US 3 33406149 33406149 single base substitution C T 3_prime_UTR_variant COAD-US 3 33406149 33406149 single base substitution C T 5_prime_UTR_variant COAD-US 3 33406149 33406149 single base substitution C T exon_variant COAD-US 3 33406149 33406149 single base substitution C T intron_variant COAD-US 3 33406149 33406149 single base substitution C T synonymous_variant C76C 228C>T COAD-US 3 33414638 33414638 deletion of <=200bp A - 3_prime_UTR_variant COAD-US 3 33414638 33414638 deletion of <=200bp A - 5_prime_UTR_variant COAD-US 3 33414638 33414638 deletion of <=200bp A - exon_variant COAD-US 3 33414638 33414638 deletion of <=200bp A - frameshift_variant T115 COAD-US 3 33414638 33414638 deletion of <=200bp A - frameshift_variant T31 COAD-US 3 33414638 33414638 deletion of <=200bp A - upstream_gene_variant COAD-US 3 33427046 33427046 single base substitution G A 3_prime_UTR_variant COAD-US 3 33427046 33427046 single base substitution G A exon_variant COAD-US 3 33427046 33427046 single base substitution G A synonymous_variant P116P 348G>A COAD-US 3 33427046 33427046 single base substitution G A synonymous_variant P147P 441G>A COAD-US 3 33427046 33427046 single base substitution G A synonymous_variant P322P 966G>A COAD-US 3 33427046 33427046 single base substitution G A synonymous_variant P338P 1014G>A COAD-US 3 33427046 33427046 single base substitution G A synonymous_variant P406P 1218G>A COAD-US 3 33431824 33431824 single base substitution C A downstream_gene_variant COAD-US 3 33431824 33431824 single base substitution C A intron_variant COAD-US 3 33437693 33437693 single base substitution C T intron_variant COCA-CN 3 33400471 33400471 single base substitution C A 3_prime_UTR_variant COCA-CN 3 33400471 33400471 single base substitution C A 5_prime_UTR_variant COCA-CN 3 33400471 33400471 single base substitution C A exon_variant COCA-CN 3 33400471 33400471 single base substitution C A intron_variant COCA-CN 3 33400471 33400471 single base substitution C A missense_variant F26L 78C>A COCA-CN 3 33400702 33400702 single base substitution G T intron_variant COCA-CN 3 33400724 33400724 single base substitution A G intron_variant COCA-CN 3 33406089 33406089 single base substitution T A exon_variant COCA-CN 3 33406089 33406089 single base substitution T A intron_variant COCA-CN 3 33414597 33414597 single base substitution A T 3_prime_UTR_variant COCA-CN 3 33414597 33414597 single base substitution A T 5_prime_UTR_variant COCA-CN 3 33414597 33414597 single base substitution A T exon_variant COCA-CN 3 33414597 33414597 single base substitution A T missense_variant N102Y 304A>T COCA-CN 3 33414597 33414597 single base substitution A T missense_variant N18Y 52A>T COCA-CN 3 33414597 33414597 single base substitution A T upstream_gene_variant COCA-CN 3 33414895 33414895 single base substitution A G downstream_gene_variant COCA-CN 3 33414895 33414895 single base substitution A G exon_variant COCA-CN 3 33414895 33414895 single base substitution A G intron_variant COCA-CN 3 33414923 33414923 single base substitution G A downstream_gene_variant COCA-CN 3 33414923 33414923 single base substitution G A exon_variant COCA-CN 3 33414923 33414923 single base substitution G A intron_variant COCA-CN 3 33415394 33415394 single base substitution T C 3_prime_UTR_variant COCA-CN 3 33415394 33415394 single base substitution T C 5_prime_UTR_variant COCA-CN 3 33415394 33415394 single base substitution T C downstream_gene_variant COCA-CN 3 33415394 33415394 single base substitution T C exon_variant COCA-CN 3 33415394 33415394 single base substitution T C missense_variant L129P 386T>C COCA-CN 3 33415394 33415394 single base substitution T C missense_variant L145P 434T>C COCA-CN 3 33415394 33415394 single base substitution T C missense_variant L213P 638T>C COCA-CN 3 33418615 33418615 single base substitution G T downstream_gene_variant COCA-CN 3 33418615 33418615 single base substitution G T intron_variant COCA-CN 3 33419663 33419663 single base substitution G A downstream_gene_variant COCA-CN 3 33419663 33419663 single base substitution G A intron_variant COCA-CN 3 33419663 33419663 single base substitution G A upstream_gene_variant COCA-CN 3 33419724 33419724 single base substitution G A downstream_gene_variant COCA-CN 3 33419724 33419724 single base substitution G A intron_variant COCA-CN 3 33419724 33419724 single base substitution G A upstream_gene_variant COCA-CN 3 33427081 33427081 single base substitution G T 3_prime_UTR_variant COCA-CN 3 33427081 33427081 single base substitution G T exon_variant COCA-CN 3 33427081 33427081 single base substitution G T missense_variant R128M 383G>T COCA-CN 3 33427081 33427081 single base substitution G T missense_variant R159M 476G>T COCA-CN 3 33427081 33427081 single base substitution G T missense_variant R334M 1001G>T COCA-CN 3 33427081 33427081 single base substitution G T missense_variant R350M 1049G>T COCA-CN 3 33427081 33427081 single base substitution G T missense_variant R418M 1253G>T COCA-CN 3 33434729 33434729 single base substitution T G intron_variant COCA-CN 3 33437758 33437758 single base substitution C T intron_variant COCA-CN 3 33437859 33437859 single base substitution C A intron_variant COCA-CN 3 33438562 33438562 single base substitution G A intron_variant EOPC-DE 3 33314521 33314521 single base substitution C A upstream_gene_variant ESAD-UK 3 33314157 33314157 single base substitution C T upstream_gene_variant ESAD-UK 3 33316791 33316791 single base substitution C T upstream_gene_variant ESAD-UK 3 33318296 33318296 single base substitution C A upstream_gene_variant ESAD-UK 3 33318426 33318426 single base substitution G A upstream_gene_variant ESAD-UK 3 33318670 33318671 deletion of <=200bp TT - intron_variant ESAD-UK 3 33318670 33318671 deletion of <=200bp TT - upstream_gene_variant ESAD-UK 3 33322604 33322604 single base substitution C T intron_variant ESAD-UK 3 33328847 33328847 single base substitution A G intron_variant ESAD-UK 3 33328847 33328847 single base substitution A G upstream_gene_variant ESAD-UK 3 33329163 33329163 single base substitution C A intron_variant ESAD-UK 3 33329163 33329163 single base substitution C A upstream_gene_variant ESAD-UK 3 33329435 33329435 insertion of <=200bp - T intron_variant ESAD-UK 3 33329435 33329435 insertion of <=200bp - T upstream_gene_variant ESAD-UK 3 33330278 33330278 single base substitution T C intron_variant ESAD-UK 3 33330278 33330278 single base substitution T C upstream_gene_variant ESAD-UK 3 33330506 33330506 single base substitution T G intron_variant ESAD-UK 3 33330506 33330506 single base substitution T G upstream_gene_variant ESAD-UK 3 33331214 33331214 single base substitution C T 5_prime_UTR_variant ESAD-UK 3 33331214 33331214 single base substitution C T exon_variant ESAD-UK 3 33331214 33331214 single base substitution C T intron_variant ESAD-UK 3 33332418 33332418 single base substitution A G intron_variant ESAD-UK 3 33337480 33337480 single base substitution C T intron_variant ESAD-UK 3 33337791 33337791 single base substitution C G intron_variant ESAD-UK 3 33337892 33337892 deletion of <=200bp T - intron_variant ESAD-UK 3 33338757 33338757 single base substitution C T intron_variant ESAD-UK 3 33339103 33339103 single base substitution T C intron_variant ESAD-UK 3 33339649 33339649 single base substitution T G intron_variant ESAD-UK 3 33339993 33339993 single base substitution G T intron_variant ESAD-UK 3 33342481 33342481 single base substitution C T intron_variant ESAD-UK 3 33344950 33344950 single base substitution A G intron_variant ESAD-UK 3 33345520 33345520 single base substitution T A intron_variant ESAD-UK 3 33351090 33351090 single base substitution T A intron_variant ESAD-UK 3 33352248 33352248 insertion of <=200bp - T intron_variant ESAD-UK 3 33353306 33353306 single base substitution C T intron_variant ESAD-UK 3 33356731 33356731 deletion of <=200bp T - intron_variant ESAD-UK 3 33358173 33358173 single base substitution G T intron_variant ESAD-UK 3 33358193 33358193 single base substitution C T intron_variant ESAD-UK 3 33360373 33360373 single base substitution C G intron_variant ESAD-UK 3 33362155 33362155 single base substitution T C intron_variant ESAD-UK 3 33362841 33362841 single base substitution G A intron_variant ESAD-UK 3 33362947 33362948 deletion of <=200bp AA - intron_variant ESAD-UK 3 33364283 33364283 single base substitution A T intron_variant ESAD-UK 3 33366275 33366275 single base substitution C T intron_variant ESAD-UK 3 33366863 33366863 single base substitution G T intron_variant ESAD-UK 3 33369311 33369311 single base substitution A C intron_variant ESAD-UK 3 33376235 33376235 single base substitution C T intron_variant ESAD-UK 3 33378851 33378851 single base substitution C A intron_variant ESAD-UK 3 33379577 33379577 deletion of <=200bp T - intron_variant ESAD-UK 3 33380110 33380110 single base substitution A T intron_variant ESAD-UK 3 33381035 33381035 single base substitution C G intron_variant ESAD-UK 3 33381132 33381132 single base substitution A T intron_variant ESAD-UK 3 33381834 33381834 single base substitution C T intron_variant ESAD-UK 3 33382182 33382182 single base substitution G A intron_variant ESAD-UK 3 33383872 33383872 single base substitution T C intron_variant ESAD-UK 3 33384079 33384079 single base substitution G T intron_variant ESAD-UK 3 33384709 33384709 single base substitution G A intron_variant ESAD-UK 3 33386857 33386857 insertion of <=200bp - T intron_variant ESAD-UK 3 33388048 33388048 single base substitution C T intron_variant ESAD-UK 3 33388328 33388328 single base substitution A T intron_variant ESAD-UK 3 33389229 33389229 single base substitution C T intron_variant ESAD-UK 3 33389973 33389973 single base substitution G A intron_variant ESAD-UK 3 33390032 33390032 single base substitution T G intron_variant ESAD-UK 3 33390627 33390627 single base substitution G A intron_variant ESAD-UK 3 33391017 33391017 single base substitution T A intron_variant ESAD-UK 3 33391089 33391089 single base substitution G A intron_variant ESAD-UK 3 33392238 33392238 single base substitution T C intron_variant ESAD-UK 3 33393313 33393313 single base substitution C T intron_variant ESAD-UK 3 33393986 33393986 single base substitution G C intron_variant ESAD-UK 3 33396449 33396449 deletion of <=200bp T - intron_variant ESAD-UK 3 33396449 33396449 insertion of <=200bp - T intron_variant ESAD-UK 3 33397169 33397169 single base substitution C T intron_variant ESAD-UK 3 33397855 33397855 insertion of <=200bp - T intron_variant ESAD-UK 3 33397911 33397911 single base substitution G A intron_variant ESAD-UK 3 33397934 33397934 single base substitution T A intron_variant ESAD-UK 3 33409819 33409819 single base substitution T C intron_variant ESAD-UK 3 33409819 33409819 single base substitution T C upstream_gene_variant ESAD-UK 3 33413883 33413883 single base substitution C T exon_variant ESAD-UK 3 33413883 33413883 single base substitution C T intron_variant ESAD-UK 3 33413883 33413883 single base substitution C T upstream_gene_variant ESAD-UK 3 33414253 33414253 single base substitution A T intron_variant ESAD-UK 3 33414253 33414253 single base substitution A T upstream_gene_variant ESAD-UK 3 33416926 33416926 deletion of <=200bp T - downstream_gene_variant ESAD-UK 3 33416926 33416926 deletion of <=200bp T - intron_variant ESAD-UK 3 33417573 33417573 single base substitution G A downstream_gene_variant ESAD-UK 3 33417573 33417573 single base substitution G A intron_variant ESAD-UK 3 33420346 33420346 single base substitution C A downstream_gene_variant ESAD-UK 3 33420346 33420346 single base substitution C A intron_variant ESAD-UK 3 33420346 33420346 single base substitution C A upstream_gene_variant ESAD-UK 3 33420915 33420915 single base substitution C G downstream_gene_variant ESAD-UK 3 33420915 33420915 single base substitution C G intron_variant ESAD-UK 3 33420915 33420915 single base substitution C G upstream_gene_variant ESAD-UK 3 33423971 33423971 single base substitution G C intron_variant ESAD-UK 3 33423971 33423971 single base substitution G C upstream_gene_variant ESAD-UK 3 33424028 33424028 single base substitution A G intron_variant ESAD-UK 3 33424028 33424028 single base substitution A G upstream_gene_variant ESAD-UK 3 33425414 33425414 deletion of <=200bp T - exon_variant ESAD-UK 3 33425414 33425414 deletion of <=200bp T - intron_variant ESAD-UK 3 33429526 33429526 single base substitution C T 3_prime_UTR_variant ESAD-UK 3 33429526 33429526 single base substitution C T downstream_gene_variant ESAD-UK 3 33429526 33429526 single base substitution C T intron_variant ESAD-UK 3 33429618 33429618 insertion of <=200bp - TTAG downstream_gene_variant ESAD-UK 3 33429618 33429618 insertion of <=200bp - TTAG intron_variant ESAD-UK 3 33431565 33431565 single base substitution G A downstream_gene_variant ESAD-UK 3 33431565 33431565 single base substitution G A intron_variant ESAD-UK 3 33434007 33434007 single base substitution C T downstream_gene_variant ESAD-UK 3 33434007 33434007 single base substitution C T intron_variant ESAD-UK 3 33435357 33435357 single base substitution A G intron_variant ESAD-UK 3 33442531 33442531 single base substitution G C intron_variant ESAD-UK 3 33442889 33442889 deletion of <=200bp A - intron_variant ESAD-UK 3 33442889 33442889 insertion of <=200bp - A intron_variant ESAD-UK 3 33444899 33444899 single base substitution C A exon_variant ESAD-UK 3 33445904 33445904 insertion of <=200bp - A downstream_gene_variant ESCA-CN 3 33416847 33416847 single base substitution C T 3_prime_UTR_variant ESCA-CN 3 33416847 33416847 single base substitution C T 5_prime_UTR_premature_start_codon_gain_variant ESCA-CN 3 33416847 33416847 single base substitution C T downstream_gene_variant ESCA-CN 3 33416847 33416847 single base substitution C T exon_variant ESCA-CN 3 33416847 33416847 single base substitution C T missense_variant S158L 473C>T ESCA-CN 3 33416847 33416847 single base substitution C T missense_variant S174L 521C>T ESCA-CN 3 33416847 33416847 single base substitution C T missense_variant S242L 725C>T GBM-US 3 33415165 33415165 single base substitution T G 3_prime_UTR_variant GBM-US 3 33415165 33415165 single base substitution T G 5_prime_UTR_variant GBM-US 3 33415165 33415165 single base substitution T G downstream_gene_variant GBM-US 3 33415165 33415165 single base substitution T G exon_variant GBM-US 3 33415165 33415165 single base substitution T G intron_variant GBM-US 3 33415165 33415165 single base substitution T G missense_variant L100R 299T>G GBM-US 3 33415165 33415165 single base substitution T G missense_variant L184R 551T>G KIRP-US 3 33415410 33415410 single base substitution C T 3_prime_UTR_variant KIRP-US 3 33415410 33415410 single base substitution C T 5_prime_UTR_variant KIRP-US 3 33415410 33415410 single base substitution C T downstream_gene_variant KIRP-US 3 33415410 33415410 single base substitution C T exon_variant KIRP-US 3 33415410 33415410 single base substitution C T synonymous_variant C134C 402C>T KIRP-US 3 33415410 33415410 single base substitution C T synonymous_variant C150C 450C>T KIRP-US 3 33415410 33415410 single base substitution C T synonymous_variant C218C 654C>T KIRP-US 3 33434887 33434887 single base substitution G C intron_variant LAML-KR 3 33391942 33391942 single base substitution A T intron_variant LICA-CN 3 33425556 33425556 single base substitution C T 3_prime_UTR_variant LICA-CN 3 33425556 33425556 single base substitution C T exon_variant LICA-CN 3 33425556 33425556 single base substitution C T synonymous_variant L259L 775C>T LICA-CN 3 33425556 33425556 single base substitution C T synonymous_variant L275L 823C>T LICA-CN 3 33425556 33425556 single base substitution C T synonymous_variant L343L 1027C>T LICA-CN 3 33425556 33425556 single base substitution C T synonymous_variant L53L 157C>T LICA-CN 3 33425556 33425556 single base substitution C T synonymous_variant L84L 250C>T LICA-CN 3 33434862 33434862 single base substitution T A intron_variant LICA-FR 3 33321354 33321354 single base substitution G C intron_variant LICA-FR 3 33328926 33328926 single base substitution C T intron_variant LICA-FR 3 33328926 33328926 single base substitution C T upstream_gene_variant LICA-FR 3 33342203 33342203 deletion of <=200bp T - intron_variant LICA-FR 3 33353310 33353310 single base substitution G T intron_variant LICA-FR 3 33402290 33402290 single base substitution T C downstream_gene_variant LICA-FR 3 33402290 33402290 single base substitution T C intron_variant LICA-FR 3 33402290 33402290 single base substitution T C upstream_gene_variant LICA-FR 3 33404514 33404514 single base substitution A G downstream_gene_variant LICA-FR 3 33404514 33404514 single base substitution A G intron_variant LICA-FR 3 33404514 33404514 single base substitution A G upstream_gene_variant LICA-FR 3 33412823 33412824 deletion of <=200bp TT - intron_variant LICA-FR 3 33412823 33412824 deletion of <=200bp TT - upstream_gene_variant LICA-FR 3 33429618 33429618 insertion of <=200bp - TTTAGTTAG downstream_gene_variant LICA-FR 3 33429618 33429618 insertion of <=200bp - TTTAGTTAG intron_variant LIHC-US 3 33441756 33441756 single base substitution T C intron_variant LIHC-US 3 33444345 33444345 single base substitution G T intron_variant LINC-JP 3 33318770 33318770 single base substitution G C intron_variant LINC-JP 3 33318770 33318770 single base substitution G C upstream_gene_variant LINC-JP 3 33327934 33327934 single base substitution G T intron_variant LINC-JP 3 33327934 33327934 single base substitution G T upstream_gene_variant LINC-JP 3 33358591 33358591 single base substitution T C intron_variant LINC-JP 3 33363714 33363714 single base substitution T C intron_variant LINC-JP 3 33375878 33375878 single base substitution T A intron_variant LINC-JP 3 33379014 33379014 single base substitution T A intron_variant LINC-JP 3 33393139 33393139 single base substitution A C intron_variant LINC-JP 3 33401644 33401644 deletion of <=200bp G - downstream_gene_variant LINC-JP 3 33401644 33401644 deletion of <=200bp G - intron_variant LINC-JP 3 33401644 33401644 deletion of <=200bp G - upstream_gene_variant LINC-JP 3 33407948 33407948 single base substitution C T intron_variant LINC-JP 3 33410500 33410500 single base substitution T C intron_variant LINC-JP 3 33410500 33410500 single base substitution T C upstream_gene_variant LINC-JP 3 33411792 33411792 single base substitution C T intron_variant LINC-JP 3 33411792 33411792 single base substitution C T upstream_gene_variant LINC-JP 3 33413545 33413545 single base substitution C T intron_variant LINC-JP 3 33413545 33413545 single base substitution C T upstream_gene_variant LINC-JP 3 33416280 33416280 single base substitution A T downstream_gene_variant LINC-JP 3 33416280 33416280 single base substitution A T intron_variant LINC-JP 3 33425791 33425791 single base substitution G A intron_variant LINC-JP 3 33429158 33429158 single base substitution T C 3_prime_UTR_variant LINC-JP 3 33429158 33429158 single base substitution T C downstream_gene_variant LINC-JP 3 33429158 33429158 single base substitution T C intron_variant LINC-JP 3 33433397 33433397 single base substitution C A downstream_gene_variant LINC-JP 3 33433397 33433397 single base substitution C A intron_variant LINC-JP 3 33435527 33435527 single base substitution A T intron_variant LINC-JP 3 33437266 33437266 single base substitution G A intron_variant LINC-JP 3 33438111 33438111 single base substitution T A intron_variant LINC-JP 3 33446419 33446419 single base substitution C A downstream_gene_variant LIRI-JP 3 33313809 33313809 single base substitution T C upstream_gene_variant LIRI-JP 3 33314017 33314017 single base substitution T C upstream_gene_variant LIRI-JP 3 33314489 33314489 single base substitution A G upstream_gene_variant LIRI-JP 3 33315285 33315285 single base substitution T C upstream_gene_variant LIRI-JP 3 33320120 33320120 single base substitution A G intron_variant LIRI-JP 3 33321027 33321027 single base substitution G T intron_variant LIRI-JP 3 33321976 33321976 single base substitution G A intron_variant LIRI-JP 3 33324840 33324840 single base substitution G A intron_variant LIRI-JP 3 33325063 33325063 single base substitution T C intron_variant LIRI-JP 3 33327661 33327661 single base substitution T A intron_variant LIRI-JP 3 33327661 33327661 single base substitution T A upstream_gene_variant LIRI-JP 3 33327810 33327810 single base substitution G T intron_variant LIRI-JP 3 33327810 33327810 single base substitution G T upstream_gene_variant LIRI-JP 3 33329433 33329433 deletion of <=200bp G - intron_variant LIRI-JP 3 33329433 33329433 deletion of <=200bp G - upstream_gene_variant LIRI-JP 3 33330857 33330857 single base substitution T C intron_variant LIRI-JP 3 33330857 33330857 single base substitution T C upstream_gene_variant LIRI-JP 3 33334172 33334172 single base substitution A G intron_variant LIRI-JP 3 33334183 33334183 single base substitution A G intron_variant LIRI-JP 3 33336693 33336693 single base substitution C T intron_variant LIRI-JP 3 33340680 33340680 single base substitution T C intron_variant LIRI-JP 3 33340786 33340786 single base substitution G A intron_variant LIRI-JP 3 33341272 33341272 single base substitution G T intron_variant LIRI-JP 3 33343433 33343433 single base substitution C A intron_variant LIRI-JP 3 33344025 33344025 single base substitution A C intron_variant LIRI-JP 3 33345104 33345104 single base substitution A T intron_variant LIRI-JP 3 33346676 33346676 single base substitution A G intron_variant LIRI-JP 3 33346903 33346903 single base substitution C T intron_variant LIRI-JP 3 33348471 33348471 single base substitution A G intron_variant LIRI-JP 3 33348945 33348945 single base substitution G A intron_variant LIRI-JP 3 33349797 33349797 single base substitution T C intron_variant LIRI-JP 3 33353273 33353273 single base substitution T C intron_variant LIRI-JP 3 33353441 33353441 single base substitution C T intron_variant LIRI-JP 3 33356934 33356934 single base substitution C T intron_variant LIRI-JP 3 33362210 33362210 single base substitution A G intron_variant LIRI-JP 3 33362638 33362638 single base substitution C T intron_variant LIRI-JP 3 33363129 33363129 single base substitution G T intron_variant LIRI-JP 3 33363275 33363275 single base substitution G T intron_variant LIRI-JP 3 33365409 33365409 single base substitution C T intron_variant LIRI-JP 3 33365817 33365817 single base substitution T C intron_variant LIRI-JP 3 33368032 33368032 single base substitution G A intron_variant LIRI-JP 3 33368468 33368468 single base substitution G A intron_variant LIRI-JP 3 33368751 33368751 single base substitution G A intron_variant LIRI-JP 3 33368778 33368778 single base substitution G T intron_variant LIRI-JP 3 33368967 33368967 deletion of <=200bp A - intron_variant LIRI-JP 3 33370092 33370092 single base substitution G T intron_variant LIRI-JP 3 33370107 33370107 single base substitution T A intron_variant LIRI-JP 3 33374336 33374336 single base substitution T G intron_variant LIRI-JP 3 33375036 33375036 single base substitution T A intron_variant LIRI-JP 3 33376614 33376614 single base substitution G T intron_variant LIRI-JP 3 33376860 33376860 single base substitution T A intron_variant LIRI-JP 3 33382473 33382473 single base substitution G A intron_variant LIRI-JP 3 33383069 33383069 single base substitution C T intron_variant LIRI-JP 3 33383937 33383937 single base substitution T G intron_variant LIRI-JP 3 33384083 33384083 single base substitution A C intron_variant LIRI-JP 3 33384311 33384311 single base substitution G A intron_variant LIRI-JP 3 33385562 33385562 single base substitution T A intron_variant LIRI-JP 3 33386375 33386375 single base substitution T A intron_variant LIRI-JP 3 33386625 33386625 single base substitution A G intron_variant LIRI-JP 3 33387304 33387304 single base substitution T C intron_variant LIRI-JP 3 33388245 33388245 single base substitution G T intron_variant LIRI-JP 3 33391155 33391155 single base substitution A C intron_variant LIRI-JP 3 33392187 33392187 single base substitution C A intron_variant LIRI-JP 3 33398411 33398411 single base substitution G T intron_variant LIRI-JP 3 33399122 33399122 single base substitution C G intron_variant LIRI-JP 3 33399158 33399158 single base substitution A G intron_variant LIRI-JP 3 33400457 33400457 single base substitution A G intron_variant LIRI-JP 3 33400457 33400457 single base substitution A G splice_acceptor_variant LIRI-JP 3 33400914 33400914 single base substitution G A downstream_gene_variant LIRI-JP 3 33400914 33400914 single base substitution G A intron_variant LIRI-JP 3 33400914 33400914 single base substitution G A upstream_gene_variant LIRI-JP 3 33401028 33401028 single base substitution A G downstream_gene_variant LIRI-JP 3 33401028 33401028 single base substitution A G intron_variant LIRI-JP 3 33401028 33401028 single base substitution A G upstream_gene_variant LIRI-JP 3 33401868 33401868 single base substitution C T downstream_gene_variant LIRI-JP 3 33401868 33401868 single base substitution C T intron_variant LIRI-JP 3 33401868 33401868 single base substitution C T upstream_gene_variant LIRI-JP 3 33405753 33405753 single base substitution T G downstream_gene_variant LIRI-JP 3 33405753 33405753 single base substitution T G intron_variant LIRI-JP 3 33405753 33405753 single base substitution T G upstream_gene_variant LIRI-JP 3 33406171 33406171 single base substitution A C 3_prime_UTR_variant LIRI-JP 3 33406171 33406171 single base substitution A C 5_prime_UTR_variant LIRI-JP 3 33406171 33406171 single base substitution A C exon_variant LIRI-JP 3 33406171 33406171 single base substitution A C intron_variant LIRI-JP 3 33406171 33406171 single base substitution A C missense_variant S84R 250A>C LIRI-JP 3 33408422 33408422 single base substitution T C intron_variant LIRI-JP 3 33410917 33410917 single base substitution G A intron_variant LIRI-JP 3 33410917 33410917 single base substitution G A upstream_gene_variant LIRI-JP 3 33411454 33411454 single base substitution T A intron_variant LIRI-JP 3 33411454 33411454 single base substitution T A upstream_gene_variant LIRI-JP 3 33412311 33412311 single base substitution C T intron_variant LIRI-JP 3 33412311 33412311 single base substitution C T upstream_gene_variant LIRI-JP 3 33413995 33413995 single base substitution T G exon_variant LIRI-JP 3 33413995 33413995 single base substitution T G intron_variant LIRI-JP 3 33413995 33413995 single base substitution T G upstream_gene_variant LIRI-JP 3 33416518 33416518 single base substitution T C downstream_gene_variant LIRI-JP 3 33416518 33416518 single base substitution T C intron_variant LIRI-JP 3 33416748 33416748 single base substitution C T downstream_gene_variant LIRI-JP 3 33416748 33416748 single base substitution C T intron_variant LIRI-JP 3 33416750 33416750 single base substitution G T downstream_gene_variant LIRI-JP 3 33416750 33416750 single base substitution G T intron_variant LIRI-JP 3 33420862 33420862 single base substitution T G downstream_gene_variant LIRI-JP 3 33420862 33420862 single base substitution T G intron_variant LIRI-JP 3 33420862 33420862 single base substitution T G upstream_gene_variant LIRI-JP 3 33422552 33422552 single base substitution C T intron_variant LIRI-JP 3 33422552 33422552 single base substitution C T upstream_gene_variant LIRI-JP 3 33426309 33426309 single base substitution G A intron_variant LIRI-JP 3 33428403 33428403 single base substitution C A 3_prime_UTR_variant LIRI-JP 3 33428403 33428403 single base substitution C A downstream_gene_variant LIRI-JP 3 33428403 33428403 single base substitution C A intron_variant LIRI-JP 3 33430762 33430762 single base substitution A T downstream_gene_variant LIRI-JP 3 33430762 33430762 single base substitution A T intron_variant LIRI-JP 3 33434369 33434369 single base substitution G A downstream_gene_variant LIRI-JP 3 33434369 33434369 single base substitution G A intron_variant LIRI-JP 3 33436477 33436477 single base substitution A C intron_variant LIRI-JP 3 33436550 33436550 single base substitution C T intron_variant LIRI-JP 3 33439019 33439019 single base substitution T C intron_variant LIRI-JP 3 33439698 33439698 single base substitution C T intron_variant LIRI-JP 3 33440586 33440586 single base substitution C T intron_variant LIRI-JP 3 33441762 33441762 single base substitution A C intron_variant LIRI-JP 3 33442589 33442589 single base substitution T C intron_variant LIRI-JP 3 33443312 33443312 single base substitution T C intron_variant LIRI-JP 3 33443423 33443423 single base substitution C G intron_variant LIRI-JP 3 33444853 33444853 single base substitution C T exon_variant LIRI-JP 3 33446287 33446287 single base substitution A G downstream_gene_variant LIRI-JP 3 33446662 33446662 single base substitution A C downstream_gene_variant LUSC-KR 3 33315382 33315382 single base substitution G A upstream_gene_variant LUSC-KR 3 33317280 33317280 single base substitution G A upstream_gene_variant LUSC-KR 3 33328641 33328641 single base substitution G A intron_variant LUSC-KR 3 33328641 33328641 single base substitution G A upstream_gene_variant LUSC-KR 3 33333214 33333214 single base substitution G C intron_variant LUSC-KR 3 33333218 33333218 single base substitution G A intron_variant LUSC-KR 3 33353233 33353233 single base substitution C T intron_variant LUSC-KR 3 33353767 33353767 single base substitution C G intron_variant LUSC-KR 3 33360342 33360342 single base substitution C G intron_variant LUSC-KR 3 33365630 33365630 single base substitution A T intron_variant LUSC-KR 3 33368481 33368481 single base substitution C T intron_variant LUSC-KR 3 33370873 33370873 single base substitution A C intron_variant LUSC-KR 3 33373035 33373035 single base substitution G C intron_variant LUSC-KR 3 33379500 33379500 single base substitution A T intron_variant LUSC-KR 3 33380152 33380152 single base substitution A C intron_variant LUSC-KR 3 33383936 33383936 single base substitution C A intron_variant LUSC-KR 3 33387429 33387429 single base substitution G C intron_variant LUSC-KR 3 33391409 33391409 single base substitution G A intron_variant LUSC-KR 3 33392044 33392044 single base substitution C G intron_variant LUSC-KR 3 33396569 33396569 single base substitution G T intron_variant LUSC-KR 3 33396581 33396581 single base substitution C T intron_variant LUSC-KR 3 33408197 33408197 single base substitution C A intron_variant LUSC-KR 3 33409089 33409089 single base substitution G T intron_variant LUSC-KR 3 33409089 33409089 single base substitution G T upstream_gene_variant LUSC-KR 3 33414468 33414468 single base substitution G C intron_variant LUSC-KR 3 33414468 33414468 single base substitution G C upstream_gene_variant LUSC-KR 3 33414923 33414923 single base substitution G A downstream_gene_variant LUSC-KR 3 33414923 33414923 single base substitution G A exon_variant LUSC-KR 3 33414923 33414923 single base substitution G A intron_variant LUSC-KR 3 33416876 33416876 single base substitution C G 3_prime_UTR_variant LUSC-KR 3 33416876 33416876 single base substitution C G 5_prime_UTR_premature_start_codon_gain_variant LUSC-KR 3 33416876 33416876 single base substitution C G downstream_gene_variant LUSC-KR 3 33416876 33416876 single base substitution C G exon_variant LUSC-KR 3 33416876 33416876 single base substitution C G missense_variant L168V 502C>G LUSC-KR 3 33416876 33416876 single base substitution C G missense_variant L184V 550C>G LUSC-KR 3 33416876 33416876 single base substitution C G missense_variant L252V 754C>G LUSC-KR 3 33434831 33434831 single base substitution G A intron_variant LUSC-KR 3 33445002 33445002 single base substitution A G exon_variant LUSC-US 3 33400471 33400471 single base substitution C G 3_prime_UTR_variant LUSC-US 3 33400471 33400471 single base substitution C G 5_prime_UTR_premature_start_codon_gain_variant LUSC-US 3 33400471 33400471 single base substitution C G exon_variant LUSC-US 3 33400471 33400471 single base substitution C G intron_variant LUSC-US 3 33400471 33400471 single base substitution C G missense_variant F26L 78C>G LUSC-US 3 33437660 33437660 single base substitution G A intron_variant MALY-DE 3 33318720 33318720 single base substitution C T intron_variant MALY-DE 3 33318720 33318720 single base substitution C T upstream_gene_variant MALY-DE 3 33320339 33320339 single base substitution G T intron_variant MALY-DE 3 33342865 33342865 single base substitution T C intron_variant MALY-DE 3 33343170 33343170 single base substitution T C intron_variant MALY-DE 3 33345239 33345239 single base substitution A C intron_variant MALY-DE 3 33356731 33356731 insertion of <=200bp - T intron_variant MALY-DE 3 33357574 33357574 single base substitution A G intron_variant MALY-DE 3 33362178 33362178 single base substitution G A intron_variant MALY-DE 3 33364954 33364954 single base substitution C T intron_variant MALY-DE 3 33365643 33365643 deletion of <=200bp T - intron_variant MALY-DE 3 33368883 33368883 deletion of <=200bp A - intron_variant MALY-DE 3 33370294 33370295 deletion of <=200bp TG - intron_variant MALY-DE 3 33373921 33373921 single base substitution G T intron_variant MALY-DE 3 33374700 33374700 single base substitution A T intron_variant MALY-DE 3 33375948 33375948 single base substitution A C intron_variant MALY-DE 3 33376608 33376608 single base substitution T G intron_variant MALY-DE 3 33377560 33377560 insertion of <=200bp - T intron_variant MALY-DE 3 33379577 33379577 deletion of <=200bp T - intron_variant MALY-DE 3 33382140 33382140 single base substitution T G intron_variant MALY-DE 3 33393477 33393477 single base substitution A C intron_variant MALY-DE 3 33395462 33395462 single base substitution C T intron_variant MALY-DE 3 33397735 33397735 single base substitution A C intron_variant MALY-DE 3 33399264 33399264 single base substitution G A intron_variant MALY-DE 3 33399518 33399518 single base substitution T C intron_variant MALY-DE 3 33405917 33405917 single base substitution T C exon_variant MALY-DE 3 33405917 33405917 single base substitution T C intron_variant MALY-DE 3 33408502 33408502 single base substitution T A intron_variant MALY-DE 3 33422087 33422087 single base substitution A G intron_variant MALY-DE 3 33422087 33422087 single base substitution A G upstream_gene_variant MALY-DE 3 33425198 33425198 single base substitution A C exon_variant MALY-DE 3 33425198 33425198 single base substitution A C intron_variant MALY-DE 3 33434103 33434103 single base substitution C A downstream_gene_variant MALY-DE 3 33434103 33434103 single base substitution C A intron_variant MALY-DE 3 33446615 33446615 single base substitution T C downstream_gene_variant MELA-AU 3 33313564 33313564 single base substitution C T upstream_gene_variant MELA-AU 3 33313630 33313630 single base substitution C T upstream_gene_variant MELA-AU 3 33313804 33313804 single base substitution G A upstream_gene_variant MELA-AU 3 33314059 33314059 single base substitution C T upstream_gene_variant MELA-AU 3 33314160 33314160 single base substitution G A upstream_gene_variant MELA-AU 3 33314208 33314208 single base substitution G A upstream_gene_variant MELA-AU 3 33314225 33314225 single base substitution G A upstream_gene_variant MELA-AU 3 33314343 33314343 single base substitution G A upstream_gene_variant MELA-AU 3 33314378 33314378 single base substitution G A upstream_gene_variant MELA-AU 3 33314664 33314664 single base substitution T C upstream_gene_variant MELA-AU 3 33315141 33315141 single base substitution G A upstream_gene_variant MELA-AU 3 33315142 33315142 single base substitution G A upstream_gene_variant MELA-AU 3 33315217 33315217 single base substitution G A upstream_gene_variant MELA-AU 3 33315376 33315376 single base substitution G A upstream_gene_variant MELA-AU 3 33315433 33315433 single base substitution T A upstream_gene_variant MELA-AU 3 33315487 33315487 single base substitution C T upstream_gene_variant MELA-AU 3 33315575 33315575 single base substitution G A upstream_gene_variant MELA-AU 3 33315928 33315928 single base substitution A G upstream_gene_variant MELA-AU 3 33316334 33316334 single base substitution G A upstream_gene_variant MELA-AU 3 33316380 33316380 single base substitution G A upstream_gene_variant MELA-AU 3 33316443 33316443 single base substitution A G upstream_gene_variant MELA-AU 3 33316537 33316537 single base substitution G A upstream_gene_variant MELA-AU 3 33316559 33316559 single base substitution C T upstream_gene_variant MELA-AU 3 33316811 33316811 single base substitution G A upstream_gene_variant MELA-AU 3 33316936 33316936 single base substitution C T upstream_gene_variant MELA-AU 3 33317229 33317229 single base substitution G A upstream_gene_variant MELA-AU 3 33317545 33317545 single base substitution C T upstream_gene_variant MELA-AU 3 33317795 33317795 single base substitution C T upstream_gene_variant MELA-AU 3 33318394 33318394 single base substitution C T upstream_gene_variant MELA-AU 3 33318519 33318519 single base substitution T A exon_variant MELA-AU 3 33318519 33318519 single base substitution T A upstream_gene_variant MELA-AU 3 33318606 33318606 single base substitution C T intron_variant MELA-AU 3 33318606 33318606 single base substitution C T upstream_gene_variant MELA-AU 3 33318736 33318736 single base substitution C T intron_variant MELA-AU 3 33318736 33318736 single base substitution C T upstream_gene_variant MELA-AU 3 33318774 33318775 multiple base substitution (>=2bp and <=200bp) GA AC intron_variant MELA-AU 3 33318774 33318775 multiple base substitution (>=2bp and <=200bp) GA AC upstream_gene_variant MELA-AU 3 33319324 33319324 single base substitution G A intron_variant MELA-AU 3 33319324 33319324 single base substitution G A upstream_gene_variant MELA-AU 3 33321866 33321866 single base substitution C T intron_variant MELA-AU 3 33322115 33322115 single base substitution C T intron_variant MELA-AU 3 33322409 33322409 single base substitution C T intron_variant MELA-AU 3 33322515 33322515 single base substitution T A intron_variant MELA-AU 3 33324243 33324243 single base substitution G C intron_variant MELA-AU 3 33324512 33324512 single base substitution C T intron_variant MELA-AU 3 33324552 33324552 single base substitution C T intron_variant MELA-AU 3 33325867 33325867 single base substitution C T intron_variant MELA-AU 3 33326557 33326557 single base substitution G A intron_variant MELA-AU 3 33326557 33326557 single base substitution G A upstream_gene_variant MELA-AU 3 33326766 33326766 single base substitution G A intron_variant MELA-AU 3 33326766 33326766 single base substitution G A upstream_gene_variant MELA-AU 3 33326972 33326972 single base substitution C T intron_variant MELA-AU 3 33326972 33326972 single base substitution C T upstream_gene_variant MELA-AU 3 33327128 33327128 single base substitution T C intron_variant MELA-AU 3 33327128 33327128 single base substitution T C upstream_gene_variant MELA-AU 3 33327266 33327266 single base substitution C T intron_variant MELA-AU 3 33327266 33327266 single base substitution C T upstream_gene_variant MELA-AU 3 33327271 33327271 single base substitution C T intron_variant MELA-AU 3 33327271 33327271 single base substitution C T upstream_gene_variant MELA-AU 3 33327427 33327427 single base substitution C T intron_variant MELA-AU 3 33327427 33327427 single base substitution C T upstream_gene_variant MELA-AU 3 33327576 33327576 single base substitution G A intron_variant MELA-AU 3 33327576 33327576 single base substitution G A upstream_gene_variant MELA-AU 3 33328024 33328024 single base substitution C T intron_variant MELA-AU 3 33328024 33328024 single base substitution C T upstream_gene_variant MELA-AU 3 33328138 33328138 single base substitution C A intron_variant MELA-AU 3 33328138 33328138 single base substitution C A upstream_gene_variant MELA-AU 3 33328253 33328253 single base substitution C T intron_variant MELA-AU 3 33328253 33328253 single base substitution C T upstream_gene_variant MELA-AU 3 33328466 33328466 single base substitution C T intron_variant MELA-AU 3 33328466 33328466 single base substitution C T upstream_gene_variant MELA-AU 3 33328877 33328878 multiple base substitution (>=2bp and <=200bp) CC TT intron_variant MELA-AU 3 33328877 33328878 multiple base substitution (>=2bp and <=200bp) CC TT upstream_gene_variant MELA-AU 3 33329084 33329084 single base substitution C T intron_variant MELA-AU 3 33329084 33329084 single base substitution C T upstream_gene_variant MELA-AU 3 33329121 33329121 single base substitution C T intron_variant MELA-AU 3 33329121 33329121 single base substitution C T upstream_gene_variant MELA-AU 3 33329681 33329682 multiple base substitution (>=2bp and <=200bp) GG AA intron_variant MELA-AU 3 33329681 33329682 multiple base substitution (>=2bp and <=200bp) GG AA upstream_gene_variant MELA-AU 3 33329697 33329697 single base substitution T A intron_variant MELA-AU 3 33329697 33329697 single base substitution T A upstream_gene_variant MELA-AU 3 33329698 33329698 single base substitution C T intron_variant MELA-AU 3 33329698 33329698 single base substitution C T upstream_gene_variant MELA-AU 3 33329962 33329962 single base substitution G A intron_variant MELA-AU 3 33329962 33329962 single base substitution G A upstream_gene_variant MELA-AU 3 33330190 33330190 single base substitution G A intron_variant MELA-AU 3 33330190 33330190 single base substitution G A upstream_gene_variant MELA-AU 3 33330601 33330601 single base substitution G A intron_variant MELA-AU 3 33330601 33330601 single base substitution G A upstream_gene_variant MELA-AU 3 33331039 33331039 single base substitution A G intron_variant MELA-AU 3 33331039 33331039 single base substitution A G upstream_gene_variant MELA-AU 3 33331242 33331242 single base substitution C T 5_prime_UTR_premature_start_codon_gain_variant MELA-AU 3 33331242 33331242 single base substitution C T exon_variant MELA-AU 3 33331242 33331242 single base substitution C T intron_variant MELA-AU 3 33331698 33331698 single base substitution C A intron_variant MELA-AU 3 33331847 33331847 single base substitution T C intron_variant MELA-AU 3 33332447 33332447 single base substitution C T intron_variant MELA-AU 3 33332505 33332505 single base substitution T C intron_variant MELA-AU 3 33332536 33332536 single base substitution C T intron_variant MELA-AU 3 33333333 33333333 single base substitution T A intron_variant MELA-AU 3 33333675 33333675 single base substitution C T intron_variant MELA-AU 3 33334148 33334148 single base substitution C T intron_variant MELA-AU 3 33334604 33334604 single base substitution C T intron_variant MELA-AU 3 33334957 33334957 single base substitution C T intron_variant MELA-AU 3 33334980 33334980 single base substitution C T intron_variant MELA-AU 3 33336175 33336175 single base substitution C T intron_variant MELA-AU 3 33336572 33336572 single base substitution T A intron_variant MELA-AU 3 33336757 33336757 single base substitution C T intron_variant MELA-AU 3 33337799 33337799 single base substitution C T intron_variant MELA-AU 3 33337987 33337987 single base substitution T C intron_variant MELA-AU 3 33338721 33338721 single base substitution T A intron_variant MELA-AU 3 33339135 33339135 single base substitution C T intron_variant MELA-AU 3 33339247 33339248 multiple base substitution (>=2bp and <=200bp) TT GG exon_variant MELA-AU 3 33339247 33339248 multiple base substitution (>=2bp and <=200bp) TT GG intron_variant MELA-AU 3 33340513 33340513 single base substitution T A intron_variant MELA-AU 3 33341164 33341164 single base substitution G T intron_variant MELA-AU 3 33341358 33341358 single base substitution C T intron_variant MELA-AU 3 33341567 33341568 multiple base substitution (>=2bp and <=200bp) CC TT intron_variant MELA-AU 3 33341909 33341909 single base substitution C T intron_variant MELA-AU 3 33342231 33342231 single base substitution C T intron_variant MELA-AU 3 33342236 33342236 single base substitution T G intron_variant MELA-AU 3 33342828 33342828 single base substitution C T intron_variant MELA-AU 3 33343045 33343045 single base substitution T C intron_variant MELA-AU 3 33343228 33343228 single base substitution C T intron_variant MELA-AU 3 33343342 33343342 single base substitution C T intron_variant MELA-AU 3 33343893 33343893 single base substitution C T intron_variant MELA-AU 3 33344187 33344187 single base substitution C T intron_variant MELA-AU 3 33344588 33344588 single base substitution A G exon_variant MELA-AU 3 33344588 33344588 single base substitution A G intron_variant MELA-AU 3 33345217 33345217 single base substitution G A intron_variant MELA-AU 3 33345399 33345399 single base substitution C T intron_variant MELA-AU 3 33345476 33345476 single base substitution G A intron_variant MELA-AU 3 33345790 33345790 single base substitution C G intron_variant MELA-AU 3 33345835 33345835 single base substitution C G intron_variant MELA-AU 3 33346041 33346041 single base substitution C T intron_variant MELA-AU 3 33346122 33346123 multiple base substitution (>=2bp and <=200bp) CC TT intron_variant MELA-AU 3 33346214 33346214 single base substitution C T intron_variant MELA-AU 3 33346438 33346438 single base substitution C A intron_variant MELA-AU 3 33346865 33346865 single base substitution C G intron_variant MELA-AU 3 33347281 33347281 single base substitution C T intron_variant MELA-AU 3 33347487 33347487 single base substitution C G intron_variant MELA-AU 3 33347504 33347504 single base substitution C T intron_variant MELA-AU 3 33347708 33347708 single base substitution C T intron_variant MELA-AU 3 33348214 33348214 single base substitution C G intron_variant MELA-AU 3 33348969 33348969 single base substitution C T intron_variant MELA-AU 3 33349575 33349575 single base substitution C G intron_variant MELA-AU 3 33349669 33349669 single base substitution C A intron_variant MELA-AU 3 33349723 33349723 single base substitution C T intron_variant MELA-AU 3 33349973 33349973 single base substitution C T intron_variant MELA-AU 3 33350190 33350190 single base substitution C T intron_variant MELA-AU 3 33350629 33350629 single base substitution C T intron_variant MELA-AU 3 33350867 33350867 single base substitution T G intron_variant MELA-AU 3 33351542 33351542 single base substitution C T intron_variant MELA-AU 3 33351900 33351900 single base substitution C T intron_variant MELA-AU 3 33352205 33352205 single base substitution G A intron_variant MELA-AU 3 33352974 33352974 single base substitution C T intron_variant MELA-AU 3 33354281 33354282 multiple base substitution (>=2bp and <=200bp) CC TT intron_variant MELA-AU 3 33354287 33354287 single base substitution T A intron_variant MELA-AU 3 33354352 33354352 single base substitution C T intron_variant MELA-AU 3 33355047 33355047 single base substitution C T intron_variant MELA-AU 3 33355072 33355072 single base substitution G A intron_variant MELA-AU 3 33355961 33355961 single base substitution C T intron_variant MELA-AU 3 33356356 33356356 single base substitution C T intron_variant MELA-AU 3 33356364 33356364 single base substitution T A intron_variant MELA-AU 3 33356823 33356823 single base substitution T A intron_variant MELA-AU 3 33356824 33356825 multiple base substitution (>=2bp and <=200bp) CT TA intron_variant MELA-AU 3 33357032 33357032 single base substitution G A intron_variant MELA-AU 3 33357186 33357186 single base substitution C T intron_variant MELA-AU 3 33357217 33357217 single base substitution C T intron_variant MELA-AU 3 33357308 33357308 single base substitution G A intron_variant MELA-AU 3 33357422 33357422 single base substitution C T intron_variant MELA-AU 3 33357542 33357542 single base substitution T G intron_variant MELA-AU 3 33357714 33357714 single base substitution T G intron_variant MELA-AU 3 33357889 33357889 single base substitution C T intron_variant MELA-AU 3 33358128 33358128 single base substitution C T intron_variant MELA-AU 3 33358240 33358240 deletion of <=200bp T - intron_variant MELA-AU 3 33358597 33358597 single base substitution C T intron_variant MELA-AU 3 33358877 33358877 single base substitution G A intron_variant MELA-AU 3 33359022 33359022 single base substitution G A 3_prime_UTR_variant MELA-AU 3 33359022 33359022 single base substitution G A intron_variant MELA-AU 3 33359366 33359366 single base substitution G A intron_variant MELA-AU 3 33359415 33359415 single base substitution C T intron_variant MELA-AU 3 33359634 33359634 single base substitution C T intron_variant MELA-AU 3 33359918 33359918 single base substitution A C intron_variant MELA-AU 3 33360016 33360016 single base substitution A G intron_variant MELA-AU 3 33360932 33360932 single base substitution G A intron_variant MELA-AU 3 33361288 33361288 single base substitution C T intron_variant MELA-AU 3 33362550 33362550 single base substitution T G intron_variant MELA-AU 3 33362567 33362567 single base substitution C T intron_variant MELA-AU 3 33363013 33363013 single base substitution T A intron_variant MELA-AU 3 33363014 33363014 single base substitution C T intron_variant MELA-AU 3 33363519 33363519 single base substitution C T intron_variant MELA-AU 3 33363544 33363544 single base substitution G A intron_variant MELA-AU 3 33363611 33363611 single base substitution C T intron_variant MELA-AU 3 33363660 33363660 single base substitution C G intron_variant MELA-AU 3 33363660 33363660 single base substitution C T intron_variant MELA-AU 3 33364067 33364067 single base substitution C T intron_variant MELA-AU 3 33364436 33364436 single base substitution C T intron_variant MELA-AU 3 33364713 33364713 single base substitution C T intron_variant MELA-AU 3 33364947 33364948 multiple base substitution (>=2bp and <=200bp) CC TT intron_variant MELA-AU 3 33364953 33364953 single base substitution C T intron_variant MELA-AU 3 33365091 33365091 single base substitution G A intron_variant MELA-AU 3 33365096 33365096 single base substitution C T intron_variant MELA-AU 3 33365298 33365298 single base substitution C T intron_variant MELA-AU 3 33365357 33365357 single base substitution C T intron_variant MELA-AU 3 33366060 33366060 single base substitution C T intron_variant MELA-AU 3 33366271 33366271 single base substitution C T intron_variant MELA-AU 3 33366277 33366277 single base substitution G A intron_variant MELA-AU 3 33366349 33366349 single base substitution C T intron_variant MELA-AU 3 33366924 33366924 single base substitution C T intron_variant MELA-AU 3 33367029 33367029 single base substitution C T intron_variant MELA-AU 3 33367182 33367182 single base substitution C T intron_variant MELA-AU 3 33367420 33367420 single base substitution C T intron_variant MELA-AU 3 33367603 33367603 single base substitution C T intron_variant MELA-AU 3 33367711 33367711 single base substitution G A intron_variant MELA-AU 3 33367943 33367943 single base substitution C G intron_variant MELA-AU 3 33368270 33368270 single base substitution C T intron_variant MELA-AU 3 33368932 33368932 single base substitution C T intron_variant MELA-AU 3 33370034 33370035 multiple base substitution (>=2bp and <=200bp) CC TT intron_variant MELA-AU 3 33370473 33370473 single base substitution C T intron_variant MELA-AU 3 33370504 33370504 single base substitution G A intron_variant MELA-AU 3 33370916 33370916 single base substitution C T intron_variant MELA-AU 3 33370926 33370926 single base substitution G A intron_variant MELA-AU 3 33372945 33372945 single base substitution C T intron_variant MELA-AU 3 33373055 33373055 single base substitution T A intron_variant MELA-AU 3 33373633 33373633 single base substitution G C intron_variant MELA-AU 3 33373747 33373747 single base substitution C T intron_variant MELA-AU 3 33375097 33375097 single base substitution T A intron_variant MELA-AU 3 33375246 33375246 single base substitution C T intron_variant MELA-AU 3 33375296 33375296 single base substitution C T intron_variant MELA-AU 3 33375391 33375391 single base substitution C T intron_variant MELA-AU 3 33375966 33375966 single base substitution T C intron_variant MELA-AU 3 33376427 33376428 multiple base substitution (>=2bp and <=200bp) CC TT intron_variant MELA-AU 3 33376608 33376608 single base substitution T G intron_variant MELA-AU 3 33376771 33376771 single base substitution C T intron_variant MELA-AU 3 33377303 33377303 single base substitution C T intron_variant MELA-AU 3 33377743 33377743 single base substitution A T intron_variant MELA-AU 3 33378242 33378242 single base substitution T C intron_variant MELA-AU 3 33379486 33379486 single base substitution C T intron_variant MELA-AU 3 33379967 33379967 single base substitution C T intron_variant MELA-AU 3 33380176 33380176 single base substitution C T intron_variant MELA-AU 3 33380269 33380269 single base substitution C T intron_variant MELA-AU 3 33381779 33381779 single base substitution C T intron_variant MELA-AU 3 33381888 33381888 single base substitution C A intron_variant MELA-AU 3 33382119 33382119 single base substitution C T intron_variant MELA-AU 3 33382501 33382501 single base substitution C G intron_variant MELA-AU 3 33382534 33382534 single base substitution C T intron_variant MELA-AU 3 33382567 33382567 single base substitution C G intron_variant MELA-AU 3 33382572 33382572 single base substitution C T intron_variant MELA-AU 3 33382666 33382666 single base substitution C G intron_variant MELA-AU 3 33382695 33382695 single base substitution C A intron_variant MELA-AU 3 33382708 33382708 single base substitution C A intron_variant MELA-AU 3 33382738 33382738 single base substitution C G intron_variant MELA-AU 3 33383441 33383441 single base substitution C A intron_variant MELA-AU 3 33383591 33383591 single base substitution G A intron_variant MELA-AU 3 33383595 33383595 single base substitution C T intron_variant MELA-AU 3 33383791 33383791 single base substitution C T intron_variant MELA-AU 3 33384337 33384337 single base substitution C T intron_variant MELA-AU 3 33384424 33384424 single base substitution G A intron_variant MELA-AU 3 33384680 33384680 single base substitution C T intron_variant MELA-AU 3 33386774 33386774 single base substitution C T intron_variant MELA-AU 3 33386910 33386910 single base substitution C T intron_variant MELA-AU 3 33387466 33387466 single base substitution C T intron_variant MELA-AU 3 33387763 33387763 single base substitution C T intron_variant MELA-AU 3 33387965 33387965 single base substitution C T intron_variant MELA-AU 3 33388185 33388186 multiple base substitution (>=2bp and <=200bp) CC TT intron_variant MELA-AU 3 33388412 33388412 single base substitution C T intron_variant MELA-AU 3 33388724 33388724 single base substitution C T intron_variant MELA-AU 3 33389417 33389417 single base substitution C T intron_variant MELA-AU 3 33389808 33389808 single base substitution G C intron_variant MELA-AU 3 33390036 33390036 single base substitution G A intron_variant MELA-AU 3 33391030 33391030 single base substitution C T intron_variant MELA-AU 3 33391056 33391056 single base substitution C T intron_variant MELA-AU 3 33391427 33391427 single base substitution T C intron_variant MELA-AU 3 33391861 33391861 single base substitution G A intron_variant MELA-AU 3 33391877 33391877 single base substitution C T intron_variant MELA-AU 3 33392431 33392431 single base substitution C T intron_variant MELA-AU 3 33392681 33392681 single base substitution C T intron_variant MELA-AU 3 33393365 33393365 single base substitution C T intron_variant MELA-AU 3 33394605 33394605 single base substitution C T intron_variant MELA-AU 3 33395120 33395120 single base substitution C T intron_variant MELA-AU 3 33395130 33395130 single base substitution C T intron_variant MELA-AU 3 33395184 33395184 single base substitution C G intron_variant MELA-AU 3 33396447 33396447 single base substitution C T intron_variant MELA-AU 3 33396835 33396835 single base substitution C T intron_variant MELA-AU 3 33396888 33396888 single base substitution A G intron_variant MELA-AU 3 33397522 33397522 single base substitution C T intron_variant MELA-AU 3 33398521 33398521 single base substitution G A intron_variant MELA-AU 3 33399005 33399005 single base substitution T A intron_variant MELA-AU 3 33399382 33399382 single base substitution C T intron_variant MELA-AU 3 33399698 33399698 single base substitution C T intron_variant MELA-AU 3 33399837 33399837 single base substitution C T intron_variant MELA-AU 3 33400467 33400467 single base substitution C T 3_prime_UTR_variant MELA-AU 3 33400467 33400467 single base substitution C T 5_prime_UTR_variant MELA-AU 3 33400467 33400467 single base substitution C T exon_variant MELA-AU 3 33400467 33400467 single base substitution C T intron_variant MELA-AU 3 33400467 33400467 single base substitution C T missense_variant S25F 74C>T MELA-AU 3 33400587 33400587 single base substitution A G intron_variant MELA-AU 3 33402778 33402778 single base substitution T A downstream_gene_variant MELA-AU 3 33402778 33402778 single base substitution T A intron_variant MELA-AU 3 33402778 33402778 single base substitution T A upstream_gene_variant MELA-AU 3 33403094 33403094 single base substitution C T downstream_gene_variant MELA-AU 3 33403094 33403094 single base substitution C T intron_variant MELA-AU 3 33403094 33403094 single base substitution C T upstream_gene_variant MELA-AU 3 33403260 33403260 single base substitution C T downstream_gene_variant MELA-AU 3 33403260 33403260 single base substitution C T intron_variant MELA-AU 3 33403260 33403260 single base substitution C T upstream_gene_variant MELA-AU 3 33403274 33403274 single base substitution C T downstream_gene_variant MELA-AU 3 33403274 33403274 single base substitution C T intron_variant MELA-AU 3 33403274 33403274 single base substitution C T upstream_gene_variant MELA-AU 3 33403275 33403275 single base substitution C T downstream_gene_variant MELA-AU 3 33403275 33403275 single base substitution C T intron_variant MELA-AU 3 33403275 33403275 single base substitution C T upstream_gene_variant MELA-AU 3 33403905 33403905 single base substitution C T downstream_gene_variant MELA-AU 3 33403905 33403905 single base substitution C T intron_variant MELA-AU 3 33403905 33403905 single base substitution C T upstream_gene_variant MELA-AU 3 33404430 33404430 single base substitution G A downstream_gene_variant MELA-AU 3 33404430 33404430 single base substitution G A intron_variant MELA-AU 3 33404430 33404430 single base substitution G A upstream_gene_variant MELA-AU 3 33404467 33404467 single base substitution C G downstream_gene_variant MELA-AU 3 33404467 33404467 single base substitution C G intron_variant MELA-AU 3 33404467 33404467 single base substitution C G upstream_gene_variant MELA-AU 3 33404471 33404471 single base substitution G A downstream_gene_variant MELA-AU 3 33404471 33404471 single base substitution G A intron_variant MELA-AU 3 33404471 33404471 single base substitution G A upstream_gene_variant MELA-AU 3 33405597 33405597 single base substitution C T downstream_gene_variant MELA-AU 3 33405597 33405597 single base substitution C T intron_variant MELA-AU 3 33405597 33405597 single base substitution C T upstream_gene_variant MELA-AU 3 33406533 33406533 single base substitution T A intron_variant MELA-AU 3 33407120 33407120 single base substitution C A intron_variant MELA-AU 3 33407243 33407243 single base substitution A C intron_variant MELA-AU 3 33407584 33407584 single base substitution C T intron_variant MELA-AU 3 33407950 33407951 multiple base substitution (>=2bp and <=200bp) GG AA intron_variant MELA-AU 3 33408117 33408117 single base substitution C T intron_variant MELA-AU 3 33408726 33408726 single base substitution A G intron_variant MELA-AU 3 33409334 33409334 single base substitution G A intron_variant MELA-AU 3 33409334 33409334 single base substitution G A upstream_gene_variant MELA-AU 3 33410205 33410205 single base substitution A C intron_variant MELA-AU 3 33410205 33410205 single base substitution A C upstream_gene_variant MELA-AU 3 33410534 33410534 single base substitution C T intron_variant MELA-AU 3 33410534 33410534 single base substitution C T upstream_gene_variant MELA-AU 3 33411338 33411338 single base substitution C T intron_variant MELA-AU 3 33411338 33411338 single base substitution C T upstream_gene_variant MELA-AU 3 33411836 33411837 multiple base substitution (>=2bp and <=200bp) GG AA intron_variant MELA-AU 3 33411836 33411837 multiple base substitution (>=2bp and <=200bp) GG AA upstream_gene_variant MELA-AU 3 33411989 33411989 single base substitution C T intron_variant MELA-AU 3 33411989 33411989 single base substitution C T upstream_gene_variant MELA-AU 3 33412177 33412178 multiple base substitution (>=2bp and <=200bp) GG AA intron_variant MELA-AU 3 33412177 33412178 multiple base substitution (>=2bp and <=200bp) GG AA upstream_gene_variant MELA-AU 3 33412500 33412500 single base substitution C T intron_variant MELA-AU 3 33412500 33412500 single base substitution C T upstream_gene_variant MELA-AU 3 33413004 33413004 single base substitution C T intron_variant MELA-AU 3 33413004 33413004 single base substitution C T upstream_gene_variant MELA-AU 3 33413658 33413659 multiple base substitution (>=2bp and <=200bp) GG AA intron_variant MELA-AU 3 33413658 33413659 multiple base substitution (>=2bp and <=200bp) GG AA upstream_gene_variant MELA-AU 3 33414381 33414381 single base substitution C T intron_variant MELA-AU 3 33414381 33414381 single base substitution C T upstream_gene_variant MELA-AU 3 33414749 33414749 single base substitution C T 3_prime_UTR_variant MELA-AU 3 33414749 33414749 single base substitution C T exon_variant MELA-AU 3 33414749 33414749 single base substitution C T intron_variant MELA-AU 3 33414749 33414749 single base substitution C T splice_region_variant MELA-AU 3 33414749 33414749 single base substitution C T upstream_gene_variant MELA-AU 3 33415210 33415210 single base substitution G A downstream_gene_variant MELA-AU 3 33415210 33415210 single base substitution G A intron_variant MELA-AU 3 33415980 33415980 single base substitution G A downstream_gene_variant MELA-AU 3 33415980 33415980 single base substitution G A intron_variant MELA-AU 3 33416748 33416748 single base substitution C T downstream_gene_variant MELA-AU 3 33416748 33416748 single base substitution C T intron_variant MELA-AU 3 33416774 33416774 single base substitution C T downstream_gene_variant MELA-AU 3 33416774 33416774 single base substitution C T intron_variant MELA-AU 3 33416774 33416774 single base substitution C T splice_region_variant MELA-AU 3 33417447 33417447 single base substitution G A downstream_gene_variant MELA-AU 3 33417447 33417447 single base substitution G A intron_variant MELA-AU 3 33418197 33418197 single base substitution T A downstream_gene_variant MELA-AU 3 33418197 33418197 single base substitution T A intron_variant MELA-AU 3 33418953 33418953 single base substitution C T downstream_gene_variant MELA-AU 3 33418953 33418953 single base substitution C T intron_variant MELA-AU 3 33419052 33419052 single base substitution G A downstream_gene_variant MELA-AU 3 33419052 33419052 single base substitution G A intron_variant MELA-AU 3 33419052 33419052 single base substitution G A upstream_gene_variant MELA-AU 3 33419245 33419245 single base substitution C T downstream_gene_variant MELA-AU 3 33419245 33419245 single base substitution C T intron_variant MELA-AU 3 33419245 33419245 single base substitution C T upstream_gene_variant MELA-AU 3 33422646 33422646 deletion of <=200bp G - intron_variant MELA-AU 3 33422646 33422646 deletion of <=200bp G - upstream_gene_variant MELA-AU 3 33423196 33423196 single base substitution C G intron_variant MELA-AU 3 33423196 33423196 single base substitution C G upstream_gene_variant MELA-AU 3 33424000 33424000 single base substitution T C intron_variant MELA-AU 3 33424000 33424000 single base substitution T C upstream_gene_variant MELA-AU 3 33424222 33424222 single base substitution C T exon_variant MELA-AU 3 33424222 33424222 single base substitution C T intron_variant MELA-AU 3 33424927 33424927 single base substitution T G exon_variant MELA-AU 3 33424927 33424927 single base substitution T G intron_variant MELA-AU 3 33425582 33425582 single base substitution C T 3_prime_UTR_variant MELA-AU 3 33425582 33425582 single base substitution C T exon_variant MELA-AU 3 33425582 33425582 single base substitution C T synonymous_variant C267C 801C>T MELA-AU 3 33425582 33425582 single base substitution C T synonymous_variant C283C 849C>T MELA-AU 3 33425582 33425582 single base substitution C T synonymous_variant C351C 1053C>T MELA-AU 3 33425582 33425582 single base substitution C T synonymous_variant C61C 183C>T MELA-AU 3 33425582 33425582 single base substitution C T synonymous_variant C92C 276C>T MELA-AU 3 33427095 33427095 single base substitution C T 3_prime_UTR_variant MELA-AU 3 33427095 33427095 single base substitution C T exon_variant MELA-AU 3 33427095 33427095 single base substitution C T missense_variant L133F 397C>T MELA-AU 3 33427095 33427095 single base substitution C T missense_variant L164F 490C>T MELA-AU 3 33427095 33427095 single base substitution C T missense_variant L339F 1015C>T MELA-AU 3 33427095 33427095 single base substitution C T missense_variant L355F 1063C>T MELA-AU 3 33427095 33427095 single base substitution C T missense_variant L423F 1267C>T MELA-AU 3 33427396 33427396 single base substitution G A 3_prime_UTR_variant MELA-AU 3 33427396 33427396 single base substitution G A downstream_gene_variant MELA-AU 3 33427396 33427396 single base substitution G A exon_variant MELA-AU 3 33427396 33427396 single base substitution G A intron_variant MELA-AU 3 33427977 33427977 single base substitution A T 3_prime_UTR_variant MELA-AU 3 33427977 33427977 single base substitution A T downstream_gene_variant MELA-AU 3 33427977 33427977 single base substitution A T exon_variant MELA-AU 3 33427977 33427977 single base substitution A T intron_variant MELA-AU 3 33428160 33428160 single base substitution G A 3_prime_UTR_variant MELA-AU 3 33428160 33428160 single base substitution G A downstream_gene_variant MELA-AU 3 33428160 33428160 single base substitution G A intron_variant MELA-AU 3 33428607 33428607 single base substitution G A 3_prime_UTR_variant MELA-AU 3 33428607 33428607 single base substitution G A downstream_gene_variant MELA-AU 3 33428607 33428607 single base substitution G A intron_variant MELA-AU 3 33428851 33428851 single base substitution G C 3_prime_UTR_variant MELA-AU 3 33428851 33428851 single base substitution G C downstream_gene_variant MELA-AU 3 33428851 33428851 single base substitution G C intron_variant MELA-AU 3 33429488 33429488 single base substitution G A 3_prime_UTR_variant MELA-AU 3 33429488 33429488 single base substitution G A downstream_gene_variant MELA-AU 3 33429488 33429488 single base substitution G A intron_variant MELA-AU 3 33429738 33429738 single base substitution A T downstream_gene_variant MELA-AU 3 33429738 33429738 single base substitution A T intron_variant MELA-AU 3 33430493 33430493 single base substitution G A downstream_gene_variant MELA-AU 3 33430493 33430493 single base substitution G A intron_variant MELA-AU 3 33435338 33435338 single base substitution T A intron_variant MELA-AU 3 33435497 33435497 single base substitution A T intron_variant MELA-AU 3 33438767 33438767 single base substitution G A intron_variant MELA-AU 3 33438850 33438850 single base substitution C T intron_variant MELA-AU 3 33439034 33439034 single base substitution G A intron_variant MELA-AU 3 33439647 33439647 single base substitution A T intron_variant MELA-AU 3 33439975 33439975 single base substitution G A intron_variant MELA-AU 3 33440606 33440606 single base substitution G A intron_variant MELA-AU 3 33440861 33440861 single base substitution A G intron_variant MELA-AU 3 33441023 33441023 single base substitution A G intron_variant MELA-AU 3 33441596 33441596 single base substitution A G intron_variant MELA-AU 3 33442081 33442081 single base substitution T C intron_variant MELA-AU 3 33444658 33444658 single base substitution A T intron_variant MELA-AU 3 33445799 33445799 single base substitution G C downstream_gene_variant MELA-AU 3 33445891 33445891 single base substitution G A downstream_gene_variant MELA-AU 3 33445928 33445928 single base substitution A G downstream_gene_variant MELA-AU 3 33447002 33447003 multiple base substitution (>=2bp and <=200bp) GG AA downstream_gene_variant MELA-AU 3 33447791 33447796 deletion of <=200bp AAGTAT - downstream_gene_variant MELA-AU 3 33448279 33448279 single base substitution G A downstream_gene_variant MELA-AU 3 33449235 33449235 single base substitution G A downstream_gene_variant MELA-AU 3 33449774 33449774 single base substitution G A downstream_gene_variant MELA-AU 3 33449886 33449886 single base substitution G A downstream_gene_variant ORCA-IN 3 33355374 33355374 deletion of <=200bp C - intron_variant ORCA-IN 3 33367079 33367079 single base substitution C T intron_variant ORCA-IN 3 33372407 33372410 deletion of <=200bp ACAC - intron_variant ORCA-IN 3 33393092 33393092 single base substitution C G intron_variant ORCA-IN 3 33425490 33425490 single base substitution C T 3_prime_UTR_variant ORCA-IN 3 33425490 33425490 single base substitution C T exon_variant ORCA-IN 3 33425490 33425490 single base substitution C T missense_variant H237Y 709C>T ORCA-IN 3 33425490 33425490 single base substitution C T missense_variant H253Y 757C>T ORCA-IN 3 33425490 33425490 single base substitution C T missense_variant H31Y 91C>T ORCA-IN 3 33425490 33425490 single base substitution C T missense_variant H321Y 961C>T ORCA-IN 3 33425490 33425490 single base substitution C T missense_variant H62Y 184C>T OV-AU 3 33316651 33316651 single base substitution A T upstream_gene_variant OV-AU 3 33323306 33323306 single base substitution C G intron_variant OV-AU 3 33325495 33325495 single base substitution C T intron_variant OV-AU 3 33340268 33340268 single base substitution G A intron_variant OV-AU 3 33345591 33345591 single base substitution C T intron_variant OV-AU 3 33348949 33348949 single base substitution C A intron_variant OV-AU 3 33351801 33351801 single base substitution G A intron_variant OV-AU 3 33355062 33355062 single base substitution C A intron_variant OV-AU 3 33358752 33358752 single base substitution T C intron_variant OV-AU 3 33373736 33373736 single base substitution A G intron_variant OV-AU 3 33377488 33377488 single base substitution G A intron_variant OV-AU 3 33383548 33383548 single base substitution G T intron_variant OV-AU 3 33384495 33384495 single base substitution G T intron_variant OV-AU 3 33385510 33385510 single base substitution A G intron_variant OV-AU 3 33386733 33386733 single base substitution T G intron_variant OV-AU 3 33391103 33391103 single base substitution G A intron_variant OV-AU 3 33396212 33396212 single base substitution G A intron_variant OV-AU 3 33397110 33397110 single base substitution T C intron_variant OV-AU 3 33407927 33407927 single base substitution G T intron_variant OV-AU 3 33417333 33417333 single base substitution G C downstream_gene_variant OV-AU 3 33417333 33417333 single base substitution G C intron_variant OV-AU 3 33420956 33420956 single base substitution C G downstream_gene_variant OV-AU 3 33420956 33420956 single base substitution C G intron_variant OV-AU 3 33420956 33420956 single base substitution C G upstream_gene_variant OV-AU 3 33421218 33421218 single base substitution C T downstream_gene_variant OV-AU 3 33421218 33421218 single base substitution C T intron_variant OV-AU 3 33421218 33421218 single base substitution C T upstream_gene_variant OV-AU 3 33422315 33422315 single base substitution G C intron_variant OV-AU 3 33422315 33422315 single base substitution G C upstream_gene_variant OV-AU 3 33427565 33427565 single base substitution A T 3_prime_UTR_variant OV-AU 3 33427565 33427565 single base substitution A T downstream_gene_variant OV-AU 3 33427565 33427565 single base substitution A T exon_variant OV-AU 3 33427565 33427565 single base substitution A T intron_variant OV-AU 3 33427566 33427566 single base substitution T G 3_prime_UTR_variant OV-AU 3 33427566 33427566 single base substitution T G downstream_gene_variant OV-AU 3 33427566 33427566 single base substitution T G exon_variant OV-AU 3 33427566 33427566 single base substitution T G intron_variant OV-AU 3 33431551 33431551 single base substitution T G downstream_gene_variant OV-AU 3 33431551 33431551 single base substitution T G intron_variant PACA-AU 3 33315792 33315792 single base substitution C T upstream_gene_variant PACA-AU 3 33318355 33318355 single base substitution C G upstream_gene_variant PACA-AU 3 33320358 33320358 single base substitution T C intron_variant PACA-AU 3 33322221 33322221 single base substitution A G intron_variant PACA-AU 3 33326507 33326507 single base substitution T C intron_variant PACA-AU 3 33326507 33326507 single base substitution T C upstream_gene_variant PACA-AU 3 33332442 33332442 single base substitution G T intron_variant PACA-AU 3 33332515 33332515 single base substitution G T intron_variant PACA-AU 3 33343298 33343313 deletion of <=200bp TGAGTTGGAGTATCCT - intron_variant PACA-AU 3 33349220 33349220 single base substitution A T intron_variant PACA-AU 3 33352139 33352139 single base substitution T G intron_variant PACA-AU 3 33354718 33354718 single base substitution G T intron_variant PACA-AU 3 33368914 33368914 single base substitution T C intron_variant PACA-AU 3 33371847 33371847 single base substitution G A intron_variant PACA-AU 3 33377135 33377135 single base substitution G A intron_variant PACA-AU 3 33380061 33380061 single base substitution A T intron_variant PACA-AU 3 33384809 33384809 single base substitution G C intron_variant PACA-AU 3 33394386 33394390 deletion of <=200bp CAAAA - intron_variant PACA-AU 3 33394835 33394835 single base substitution G A intron_variant PACA-AU 3 33395214 33395214 deletion of <=200bp A - intron_variant PACA-AU 3 33400931 33400931 single base substitution C T downstream_gene_variant PACA-AU 3 33400931 33400931 single base substitution C T intron_variant PACA-AU 3 33400931 33400931 single base substitution C T upstream_gene_variant PACA-AU 3 33406774 33406774 single base substitution G T intron_variant PACA-AU 3 33408694 33408694 single base substitution C G intron_variant PACA-AU 3 33409842 33409842 single base substitution G A intron_variant PACA-AU 3 33409842 33409842 single base substitution G A upstream_gene_variant PACA-AU 3 33416289 33416292 deletion of <=200bp ATTT - downstream_gene_variant PACA-AU 3 33416289 33416292 deletion of <=200bp ATTT - intron_variant PACA-AU 3 33416338 33416338 single base substitution A G downstream_gene_variant PACA-AU 3 33416338 33416338 single base substitution A G intron_variant PACA-AU 3 33424742 33424742 single base substitution G A exon_variant PACA-AU 3 33424742 33424742 single base substitution G A intron_variant PACA-AU 3 33425651 33425651 single base substitution C T 3_prime_UTR_variant PACA-AU 3 33425651 33425651 single base substitution C T exon_variant PACA-AU 3 33425651 33425651 single base substitution C T synonymous_variant Y115Y 345C>T PACA-AU 3 33425651 33425651 single base substitution C T synonymous_variant Y290Y 870C>T PACA-AU 3 33425651 33425651 single base substitution C T synonymous_variant Y306Y 918C>T PACA-AU 3 33425651 33425651 single base substitution C T synonymous_variant Y374Y 1122C>T PACA-AU 3 33425651 33425651 single base substitution C T synonymous_variant Y84Y 252C>T PACA-AU 3 33432225 33432225 single base substitution G A downstream_gene_variant PACA-AU 3 33432225 33432225 single base substitution G A intron_variant PACA-AU 3 33437256 33437256 single base substitution A G intron_variant PACA-AU 3 33446543 33446543 single base substitution C T downstream_gene_variant PACA-AU 3 33447636 33447636 insertion of <=200bp - CA downstream_gene_variant PACA-CA 3 33315615 33315622 deletion of <=200bp TGTACGTT - upstream_gene_variant PACA-CA 3 33316036 33316036 single base substitution C T upstream_gene_variant PACA-CA 3 33321127 33321127 single base substitution G T intron_variant PACA-CA 3 33321174 33321174 single base substitution A C intron_variant PACA-CA 3 33322641 33322641 single base substitution G A intron_variant PACA-CA 3 33322724 33322724 single base substitution C A intron_variant PACA-CA 3 33325509 33325509 single base substitution T A intron_variant PACA-CA 3 33325616 33325616 single base substitution T G intron_variant PACA-CA 3 33328051 33328051 single base substitution C T intron_variant PACA-CA 3 33328051 33328051 single base substitution C T upstream_gene_variant PACA-CA 3 33328231 33328231 single base substitution G A intron_variant PACA-CA 3 33328231 33328231 single base substitution G A upstream_gene_variant PACA-CA 3 33335583 33335583 single base substitution G A intron_variant PACA-CA 3 33336993 33336993 single base substitution T C intron_variant PACA-CA 3 33340001 33340001 single base substitution T C intron_variant PACA-CA 3 33348913 33348913 single base substitution T C intron_variant PACA-CA 3 33351335 33351335 single base substitution G A intron_variant PACA-CA 3 33351753 33351753 single base substitution C G intron_variant PACA-CA 3 33351810 33351810 insertion of <=200bp - T intron_variant PACA-CA 3 33352965 33352965 insertion of <=200bp - T intron_variant PACA-CA 3 33358602 33358602 insertion of <=200bp - A intron_variant PACA-CA 3 33360640 33360640 single base substitution T C intron_variant PACA-CA 3 33367604 33367604 single base substitution C T intron_variant PACA-CA 3 33369753 33369753 single base substitution A G intron_variant PACA-CA 3 33372406 33372406 insertion of <=200bp - AC intron_variant PACA-CA 3 33378253 33378253 single base substitution T C intron_variant PACA-CA 3 33379794 33379794 single base substitution C T intron_variant PACA-CA 3 33380941 33380941 single base substitution G T intron_variant PACA-CA 3 33383214 33383214 single base substitution G A intron_variant PACA-CA 3 33385198 33385198 single base substitution A T intron_variant PACA-CA 3 33387203 33387203 single base substitution T G intron_variant PACA-CA 3 33390413 33390413 single base substitution C T intron_variant PACA-CA 3 33395219 33395219 single base substitution A T intron_variant PACA-CA 3 33395562 33395562 single base substitution G C intron_variant PACA-CA 3 33395621 33395621 single base substitution T C intron_variant PACA-CA 3 33396932 33396932 single base substitution C T intron_variant PACA-CA 3 33397383 33397383 single base substitution T C intron_variant PACA-CA 3 33404354 33404354 single base substitution T C downstream_gene_variant PACA-CA 3 33404354 33404354 single base substitution T C intron_variant PACA-CA 3 33404354 33404354 single base substitution T C upstream_gene_variant PACA-CA 3 33416334 33416335 deletion of <=200bp AT - downstream_gene_variant PACA-CA 3 33416334 33416335 deletion of <=200bp AT - intron_variant PACA-CA 3 33417716 33417716 deletion of <=200bp C - downstream_gene_variant PACA-CA 3 33417716 33417716 deletion of <=200bp C - intron_variant PACA-CA 3 33419705 33419705 single base substitution C T downstream_gene_variant PACA-CA 3 33419705 33419705 single base substitution C T intron_variant PACA-CA 3 33419705 33419705 single base substitution C T upstream_gene_variant PACA-CA 3 33431084 33431084 deletion of <=200bp A - downstream_gene_variant PACA-CA 3 33431084 33431084 deletion of <=200bp A - intron_variant PACA-CA 3 33433162 33433162 single base substitution C T downstream_gene_variant PACA-CA 3 33433162 33433162 single base substitution C T intron_variant PACA-CA 3 33435663 33435663 single base substitution G A intron_variant PACA-CA 3 33436834 33436834 single base substitution A T intron_variant PACA-CA 3 33439025 33439025 single base substitution T A intron_variant PACA-CA 3 33439579 33439579 single base substitution C T intron_variant PACA-CA 3 33439873 33439874 deletion of <=200bp AA - intron_variant PACA-CA 3 33441164 33441164 single base substitution C T intron_variant PACA-CA 3 33444497 33444497 single base substitution G C intron_variant PACA-CA 3 33450074 33450074 single base substitution A G downstream_gene_variant PAEN-AU 3 33325361 33325361 single base substitution G A intron_variant PAEN-AU 3 33328421 33328421 single base substitution C T intron_variant PAEN-AU 3 33328421 33328421 single base substitution C T upstream_gene_variant PAEN-AU 3 33333544 33333544 insertion of <=200bp - A intron_variant PAEN-AU 3 33345578 33345578 single base substitution A G intron_variant PAEN-AU 3 33408259 33408259 single base substitution A G intron_variant PAEN-AU 3 33435622 33435622 single base substitution C T intron_variant PAEN-AU 3 33442573 33442573 single base substitution A G intron_variant PAEN-IT 3 33384293 33384293 single base substitution C A intron_variant PBCA-DE 3 33316048 33316048 single base substitution T C upstream_gene_variant PBCA-DE 3 33318678 33318678 single base substitution A T intron_variant PBCA-DE 3 33318678 33318678 single base substitution A T upstream_gene_variant PBCA-DE 3 33319346 33319346 deletion of <=200bp A - intron_variant PBCA-DE 3 33319346 33319346 deletion of <=200bp A - upstream_gene_variant PBCA-DE 3 33328176 33328176 single base substitution G A intron_variant PBCA-DE 3 33328176 33328176 single base substitution G A upstream_gene_variant PBCA-DE 3 33337521 33337549 deletion of <=200bp TCTTGATGGTGCCCTTTGAAGTACAAAGG - intron_variant PBCA-DE 3 33338255 33338255 single base substitution G A intron_variant PBCA-DE 3 33342351 33342351 single base substitution C A intron_variant PBCA-DE 3 33354587 33354587 single base substitution G A intron_variant PBCA-DE 3 33356542 33356542 single base substitution A T intron_variant PBCA-DE 3 33357993 33357993 single base substitution G T intron_variant PBCA-DE 3 33361874 33361874 insertion of <=200bp - A intron_variant PBCA-DE 3 33370294 33370295 deletion of <=200bp TG - intron_variant PBCA-DE 3 33376611 33376611 single base substitution T G intron_variant PBCA-DE 3 33379577 33379577 insertion of <=200bp - T intron_variant PBCA-DE 3 33402840 33402841 deletion of <=200bp TG - downstream_gene_variant PBCA-DE 3 33402840 33402841 deletion of <=200bp TG - intron_variant PBCA-DE 3 33402840 33402841 deletion of <=200bp TG - upstream_gene_variant PBCA-DE 3 33425643 33425643 single base substitution G A 3_prime_UTR_variant PBCA-DE 3 33425643 33425643 single base substitution G A exon_variant PBCA-DE 3 33425643 33425643 single base substitution G A missense_variant E113K 337G>A PBCA-DE 3 33425643 33425643 single base substitution G A missense_variant E288K 862G>A PBCA-DE 3 33425643 33425643 single base substitution G A missense_variant E304K 910G>A PBCA-DE 3 33425643 33425643 single base substitution G A missense_variant E372K 1114G>A PBCA-DE 3 33425643 33425643 single base substitution G A missense_variant E82K 244G>A PBCA-DE 3 33429029 33429029 single base substitution G T 3_prime_UTR_variant PBCA-DE 3 33429029 33429029 single base substitution G T downstream_gene_variant PBCA-DE 3 33429029 33429029 single base substitution G T intron_variant PBCA-DE 3 33434898 33434898 single base substitution C T intron_variant PBCA-DE 3 33441165 33441165 single base substitution G A intron_variant PBCA-DE 3 33441166 33441166 single base substitution A G intron_variant PBCA-DE 3 33445068 33445068 single base substitution G A exon_variant PRAD-CA 3 33335374 33335374 single base substitution G A intron_variant PRAD-CA 3 33366901 33366901 single base substitution T G intron_variant PRAD-CA 3 33372101 33372101 single base substitution C T intron_variant PRAD-CA 3 33395772 33395772 single base substitution G A intron_variant PRAD-CA 3 33399473 33399473 single base substitution C T intron_variant PRAD-CA 3 33444935 33444935 single base substitution C A exon_variant PRAD-UK 3 33318678 33318678 single base substitution A T intron_variant PRAD-UK 3 33318678 33318678 single base substitution A T upstream_gene_variant PRAD-UK 3 33319604 33319604 single base substitution A G intron_variant PRAD-UK 3 33319604 33319604 single base substitution A G upstream_gene_variant PRAD-UK 3 33327428 33327428 single base substitution G A intron_variant PRAD-UK 3 33327428 33327428 single base substitution G A upstream_gene_variant PRAD-UK 3 33328185 33328185 single base substitution G A intron_variant PRAD-UK 3 33328185 33328185 single base substitution G A upstream_gene_variant PRAD-UK 3 33332744 33332744 single base substitution G C intron_variant PRAD-UK 3 33360226 33360226 single base substitution G A intron_variant PRAD-UK 3 33360243 33360243 single base substitution T C intron_variant PRAD-UK 3 33369659 33369659 single base substitution G C intron_variant PRAD-UK 3 33373605 33373605 deletion of <=200bp C - intron_variant PRAD-UK 3 33389230 33389230 single base substitution G A intron_variant PRAD-UK 3 33396575 33396575 single base substitution C A intron_variant PRAD-UK 3 33404216 33404216 insertion of <=200bp - A downstream_gene_variant PRAD-UK 3 33404216 33404216 insertion of <=200bp - A intron_variant PRAD-UK 3 33404216 33404216 insertion of <=200bp - A upstream_gene_variant PRAD-UK 3 33404300 33404300 insertion of <=200bp - T downstream_gene_variant PRAD-UK 3 33404300 33404300 insertion of <=200bp - T intron_variant PRAD-UK 3 33404300 33404300 insertion of <=200bp - T upstream_gene_variant PRAD-UK 3 33408514 33408514 single base substitution G A intron_variant PRAD-UK 3 33414576 33414576 single base substitution C A exon_variant PRAD-UK 3 33414576 33414576 single base substitution C A splice_region_variant PRAD-UK 3 33414576 33414576 single base substitution C A upstream_gene_variant PRAD-UK 3 33415742 33415742 deletion of <=200bp T - downstream_gene_variant PRAD-UK 3 33415742 33415742 deletion of <=200bp T - intron_variant PRAD-UK 3 33422752 33422752 single base substitution G A intron_variant PRAD-UK 3 33422752 33422752 single base substitution G A upstream_gene_variant PRAD-UK 3 33426070 33426070 single base substitution C G intron_variant PRAD-UK 3 33443919 33443919 single base substitution T G intron_variant PRAD-US 3 33400492 33400492 single base substitution C T 3_prime_UTR_variant PRAD-US 3 33400492 33400492 single base substitution C T 5_prime_UTR_variant PRAD-US 3 33400492 33400492 single base substitution C T exon_variant PRAD-US 3 33400492 33400492 single base substitution C T intron_variant PRAD-US 3 33400492 33400492 single base substitution C T synonymous_variant C33C 99C>T PRAD-US 3 33414823 33414823 single base substitution C A 3_prime_UTR_variant PRAD-US 3 33414823 33414823 single base substitution C A 5_prime_UTR_variant PRAD-US 3 33414823 33414823 single base substitution C A downstream_gene_variant PRAD-US 3 33414823 33414823 single base substitution C A exon_variant PRAD-US 3 33414823 33414823 single base substitution C A intron_variant PRAD-US 3 33414823 33414823 single base substitution C A missense_variant T144K 431C>A PRAD-US 3 33414823 33414823 single base substitution C A missense_variant T60K 179C>A READ-US 3 33427020 33427020 single base substitution G A 3_prime_UTR_variant READ-US 3 33427020 33427020 single base substitution G A exon_variant READ-US 3 33427020 33427020 single base substitution G A missense_variant A108T 322G>A READ-US 3 33427020 33427020 single base substitution G A missense_variant A139T 415G>A READ-US 3 33427020 33427020 single base substitution G A missense_variant A314T 940G>A READ-US 3 33427020 33427020 single base substitution G A missense_variant A330T 988G>A READ-US 3 33427020 33427020 single base substitution G A missense_variant A398T 1192G>A READ-US 3 33438562 33438562 single base substitution G A intron_variant RECA-EU 3 33314351 33314351 single base substitution T A upstream_gene_variant RECA-EU 3 33333286 33333286 single base substitution T C intron_variant RECA-EU 3 33335149 33335149 single base substitution A G intron_variant RECA-EU 3 33348283 33348283 single base substitution G A intron_variant RECA-EU 3 33350143 33350143 single base substitution T A intron_variant RECA-EU 3 33352915 33352915 single base substitution T C intron_variant RECA-EU 3 33359199 33359199 single base substitution A T intron_variant RECA-EU 3 33370633 33370633 single base substitution T G intron_variant RECA-EU 3 33390859 33390859 single base substitution G T intron_variant RECA-EU 3 33415645 33415645 single base substitution T C downstream_gene_variant RECA-EU 3 33415645 33415645 single base substitution T C intron_variant RECA-EU 3 33425000 33425000 single base substitution G C exon_variant RECA-EU 3 33425000 33425000 single base substitution G C intron_variant RECA-EU 3 33436951 33436951 single base substitution A T intron_variant RECA-EU 3 33445730 33445730 single base substitution C T downstream_gene_variant SKCA-BR 3 33313776 33313776 single base substitution C T upstream_gene_variant SKCA-BR 3 33314401 33314401 single base substitution C T upstream_gene_variant SKCA-BR 3 33317561 33317561 single base substitution T C upstream_gene_variant SKCA-BR 3 33318832 33318832 single base substitution T G intron_variant SKCA-BR 3 33318832 33318832 single base substitution T G upstream_gene_variant SKCA-BR 3 33318855 33318855 single base substitution C T intron_variant SKCA-BR 3 33318855 33318855 single base substitution C T upstream_gene_variant SKCA-BR 3 33319345 33319345 single base substitution T A intron_variant SKCA-BR 3 33319345 33319345 single base substitution T A upstream_gene_variant SKCA-BR 3 33326668 33326668 single base substitution T G intron_variant SKCA-BR 3 33326668 33326668 single base substitution T G upstream_gene_variant SKCA-BR 3 33327623 33327623 single base substitution C T intron_variant SKCA-BR 3 33327623 33327623 single base substitution C T upstream_gene_variant SKCA-BR 3 33328246 33328246 single base substitution A C intron_variant SKCA-BR 3 33328246 33328246 single base substitution A C upstream_gene_variant SKCA-BR 3 33328348 33328348 single base substitution C T intron_variant SKCA-BR 3 33328348 33328348 single base substitution C T upstream_gene_variant SKCA-BR 3 33328760 33328760 single base substitution A G intron_variant SKCA-BR 3 33328760 33328760 single base substitution A G upstream_gene_variant SKCA-BR 3 33329885 33329885 single base substitution A G intron_variant SKCA-BR 3 33329885 33329885 single base substitution A G upstream_gene_variant SKCA-BR 3 33331340 33331340 single base substitution C T intron_variant SKCA-BR 3 33338143 33338143 single base substitution C T intron_variant SKCA-BR 3 33340776 33340776 single base substitution C T intron_variant SKCA-BR 3 33346041 33346041 single base substitution C T intron_variant SKCA-BR 3 33346965 33346965 single base substitution G C intron_variant SKCA-BR 3 33347394 33347394 single base substitution C T intron_variant SKCA-BR 3 33351712 33351712 single base substitution C T intron_variant SKCA-BR 3 33355961 33355961 single base substitution C T intron_variant SKCA-BR 3 33356482 33356482 single base substitution G A intron_variant SKCA-BR 3 33356711 33356711 single base substitution C T intron_variant SKCA-BR 3 33367991 33367991 single base substitution C T intron_variant SKCA-BR 3 33369626 33369626 single base substitution C T intron_variant SKCA-BR 3 33370293 33370293 insertion of <=200bp - ATGTG intron_variant SKCA-BR 3 33378896 33378896 single base substitution C T intron_variant SKCA-BR 3 33383672 33383672 single base substitution A T intron_variant SKCA-BR 3 33384200 33384207 deletion of <=200bp CTTCTTTT - intron_variant SKCA-BR 3 33387562 33387562 single base substitution A C intron_variant SKCA-BR 3 33389450 33389450 single base substitution C T intron_variant SKCA-BR 3 33393195 33393195 single base substitution C A intron_variant SKCA-BR 3 33397938 33397938 single base substitution T G intron_variant SKCA-BR 3 33400950 33400950 single base substitution A T downstream_gene_variant SKCA-BR 3 33400950 33400950 single base substitution A T intron_variant SKCA-BR 3 33400950 33400950 single base substitution A T upstream_gene_variant SKCA-BR 3 33403054 33403054 single base substitution C T downstream_gene_variant SKCA-BR 3 33403054 33403054 single base substitution C T intron_variant SKCA-BR 3 33403054 33403054 single base substitution C T upstream_gene_variant SKCA-BR 3 33406774 33406775 deletion of <=200bp GT - intron_variant SKCA-BR 3 33411560 33411560 single base substitution C T intron_variant SKCA-BR 3 33411560 33411560 single base substitution C T upstream_gene_variant SKCA-BR 3 33411750 33411750 insertion of <=200bp - CA intron_variant SKCA-BR 3 33411750 33411750 insertion of <=200bp - CA upstream_gene_variant SKCA-BR 3 33412822 33412823 deletion of <=200bp AT - intron_variant SKCA-BR 3 33412822 33412823 deletion of <=200bp AT - upstream_gene_variant SKCA-BR 3 33416565 33416565 single base substitution G T downstream_gene_variant SKCA-BR 3 33416565 33416565 single base substitution G T intron_variant SKCA-BR 3 33423374 33423374 single base substitution G A intron_variant SKCA-BR 3 33423374 33423374 single base substitution G A upstream_gene_variant SKCA-BR 3 33427970 33427970 single base substitution G A 3_prime_UTR_variant SKCA-BR 3 33427970 33427970 single base substitution G A downstream_gene_variant SKCA-BR 3 33427970 33427970 single base substitution G A exon_variant SKCA-BR 3 33427970 33427970 single base substitution G A intron_variant SKCA-BR 3 33435683 33435683 insertion of <=200bp - TTTATTA intron_variant SKCA-BR 3 33441315 33441315 single base substitution G A intron_variant SKCA-BR 3 33444978 33444986 deletion of <=200bp CTCTATCTA - exon_variant SKCA-BR 3 33445076 33445076 insertion of <=200bp - GTCTATCTATCTATCTA exon_variant SKCA-BR 3 33445977 33445977 insertion of <=200bp - TA downstream_gene_variant SKCA-BR 3 33447710 33447710 single base substitution T G downstream_gene_variant SKCM-US 3 33400467 33400467 single base substitution C T 3_prime_UTR_variant SKCM-US 3 33400467 33400467 single base substitution C T 5_prime_UTR_variant SKCM-US 3 33400467 33400467 single base substitution C T exon_variant SKCM-US 3 33400467 33400467 single base substitution C T intron_variant SKCM-US 3 33400467 33400467 single base substitution C T missense_variant S25F 74C>T SKCM-US 3 33400823 33400823 single base substitution C T 3_prime_UTR_variant SKCM-US 3 33400823 33400823 single base substitution C T 5_prime_UTR_variant SKCM-US 3 33400823 33400823 single base substitution C T exon_variant SKCM-US 3 33400823 33400823 single base substitution C T intron_variant SKCM-US 3 33400823 33400823 single base substitution C T missense_variant L57F 169C>T SKCM-US 3 33400835 33400835 single base substitution C T 3_prime_UTR_variant SKCM-US 3 33400835 33400835 single base substitution C T 5_prime_UTR_variant SKCM-US 3 33400835 33400835 single base substitution C T exon_variant SKCM-US 3 33400835 33400835 single base substitution C T intron_variant SKCM-US 3 33400835 33400835 single base substitution C T stop_gained Q61* 181C>T SKCM-US 3 33400835 33400835 single base substitution C T upstream_gene_variant SKCM-US 3 33418781 33418781 single base substitution C T 3_prime_UTR_variant SKCM-US 3 33418781 33418781 single base substitution C T 5_prime_UTR_premature_start_codon_gain_variant SKCM-US 3 33418781 33418781 single base substitution C T downstream_gene_variant SKCM-US 3 33418781 33418781 single base substitution C T exon_variant SKCM-US 3 33418781 33418781 single base substitution C T stop_gained R185* 553C>T SKCM-US 3 33418781 33418781 single base substitution C T stop_gained R201* 601C>T SKCM-US 3 33418781 33418781 single base substitution C T stop_gained R269* 805C>T SKCM-US 3 33425589 33425589 single base substitution A G 3_prime_UTR_variant SKCM-US 3 33425589 33425589 single base substitution A G exon_variant SKCM-US 3 33425589 33425589 single base substitution A G missense_variant I270V 808A>G SKCM-US 3 33425589 33425589 single base substitution A G missense_variant I286V 856A>G SKCM-US 3 33425589 33425589 single base substitution A G missense_variant I354V 1060A>G SKCM-US 3 33425589 33425589 single base substitution A G missense_variant I64V 190A>G SKCM-US 3 33425589 33425589 single base substitution A G missense_variant I95V 283A>G SKCM-US 3 33438579 33438579 single base substitution C T intron_variant SKCM-US 3 33438598 33438598 single base substitution C A intron_variant STAD-US 3 33416811 33416811 single base substitution G A 3_prime_UTR_variant STAD-US 3 33416811 33416811 single base substitution G A 5_prime_UTR_variant STAD-US 3 33416811 33416811 single base substitution G A downstream_gene_variant STAD-US 3 33416811 33416811 single base substitution G A exon_variant STAD-US 3 33416811 33416811 single base substitution G A missense_variant C146Y 437G>A STAD-US 3 33416811 33416811 single base substitution G A missense_variant C162Y 485G>A STAD-US 3 33416811 33416811 single base substitution G A missense_variant C230Y 689G>A STAD-US 3 33425581 33425581 single base substitution G A 3_prime_UTR_variant STAD-US 3 33425581 33425581 single base substitution G A exon_variant STAD-US 3 33425581 33425581 single base substitution G A missense_variant C267Y 800G>A STAD-US 3 33425581 33425581 single base substitution G A missense_variant C283Y 848G>A STAD-US 3 33425581 33425581 single base substitution G A missense_variant C351Y 1052G>A STAD-US 3 33425581 33425581 single base substitution G A missense_variant C61Y 182G>A STAD-US 3 33425581 33425581 single base substitution G A missense_variant C92Y 275G>A THCA-US 3 33420177 33420177 single base substitution A G downstream_gene_variant THCA-US 3 33420177 33420177 single base substitution A G missense_variant I215V 643A>G THCA-US 3 33420177 33420177 single base substitution A G missense_variant I231V 691A>G THCA-US 3 33420177 33420177 single base substitution A G missense_variant I299V 895A>G THCA-US 3 33420177 33420177 single base substitution A G missense_variant I9V 25A>G THCA-US 3 33420177 33420177 single base substitution A G splice_region_variant THCA-US 3 33420177 33420177 single base substitution A G upstream_gene_variant UCEC-US 3 33339438 33339438 single base substitution A G 5_prime_UTR_variant UCEC-US 3 33339438 33339438 single base substitution A G exon_variant UCEC-US 3 33339438 33339438 single base substitution A G intron_variant UCEC-US 3 33339438 33339438 single base substitution A G missense_variant I8V 22A>G UCEC-US 3 33400458 33400458 single base substitution G T intron_variant UCEC-US 3 33400458 33400458 single base substitution G T splice_acceptor_variant UCEC-US 3 33406174 33406174 single base substitution T C 3_prime_UTR_variant UCEC-US 3 33406174 33406174 single base substitution T C 5_prime_UTR_premature_start_codon_gain_variant UCEC-US 3 33406174 33406174 single base substitution T C exon_variant UCEC-US 3 33406174 33406174 single base substitution T C intron_variant UCEC-US 3 33406174 33406174 single base substitution T C synonymous_variant L85L 253T>C UCEC-US 3 33414830 33414830 single base substitution C T 3_prime_UTR_variant UCEC-US 3 33414830 33414830 single base substitution C T 5_prime_UTR_variant UCEC-US 3 33414830 33414830 single base substitution C T downstream_gene_variant UCEC-US 3 33414830 33414830 single base substitution C T exon_variant UCEC-US 3 33414830 33414830 single base substitution C T intron_variant UCEC-US 3 33414830 33414830 single base substitution C T synonymous_variant S146S 438C>T UCEC-US 3 33414830 33414830 single base substitution C T synonymous_variant S62S 186C>T UCEC-US 3 33415407 33415407 single base substitution C A 3_prime_UTR_variant UCEC-US 3 33415407 33415407 single base substitution C A 5_prime_UTR_premature_start_codon_gain_variant UCEC-US 3 33415407 33415407 single base substitution C A downstream_gene_variant UCEC-US 3 33415407 33415407 single base substitution C A exon_variant UCEC-US 3 33415407 33415407 single base substitution C A synonymous_variant S133S 399C>A UCEC-US 3 33415407 33415407 single base substitution C A synonymous_variant S149S 447C>A UCEC-US 3 33415407 33415407 single base substitution C A synonymous_variant S217S 651C>A UCEC-US 3 33416781 33416781 single base substitution G A downstream_gene_variant UCEC-US 3 33416781 33416781 single base substitution G A missense_variant R136H 407G>A UCEC-US 3 33416781 33416781 single base substitution G A missense_variant R152H 455G>A UCEC-US 3 33416781 33416781 single base substitution G A missense_variant R220H 659G>A UCEC-US 3 33416781 33416781 single base substitution G A splice_region_variant UCEC-US 3 33416852 33416852 single base substitution T C 3_prime_UTR_variant UCEC-US 3 33416852 33416852 single base substitution T C 5_prime_UTR_variant UCEC-US 3 33416852 33416852 single base substitution T C downstream_gene_variant UCEC-US 3 33416852 33416852 single base substitution T C exon_variant UCEC-US 3 33416852 33416852 single base substitution T C missense_variant C160R 478T>C UCEC-US 3 33416852 33416852 single base substitution T C missense_variant C176R 526T>C UCEC-US 3 33416852 33416852 single base substitution T C missense_variant C244R 730T>C UCEC-US 3 33416902 33416902 single base substitution G A 3_prime_UTR_variant UCEC-US 3 33416902 33416902 single base substitution G A 5_prime_UTR_variant UCEC-US 3 33416902 33416902 single base substitution G A downstream_gene_variant UCEC-US 3 33416902 33416902 single base substitution G A exon_variant UCEC-US 3 33416902 33416902 single base substitution G A synonymous_variant P176P 528G>A UCEC-US 3 33416902 33416902 single base substitution G A synonymous_variant P192P 576G>A UCEC-US 3 33416902 33416902 single base substitution G A synonymous_variant P260P 780G>A UCEC-US 3 33418806 33418806 single base substitution G A 3_prime_UTR_variant UCEC-US 3 33418806 33418806 single base substitution G A 5_prime_UTR_variant UCEC-US 3 33418806 33418806 single base substitution G A downstream_gene_variant UCEC-US 3 33418806 33418806 single base substitution G A exon_variant UCEC-US 3 33418806 33418806 single base substitution G A missense_variant G193D 578G>A UCEC-US 3 33418806 33418806 single base substitution G A missense_variant G209D 626G>A UCEC-US 3 33418806 33418806 single base substitution G A missense_variant G277D 830G>A UCEC-US 3 33420200 33420200 single base substitution G T 3_prime_UTR_variant UCEC-US 3 33420200 33420200 single base substitution G T downstream_gene_variant UCEC-US 3 33420200 33420200 single base substitution G T exon_variant UCEC-US 3 33420200 33420200 single base substitution G T missense_variant Q16H 48G>T UCEC-US 3 33420200 33420200 single base substitution G T missense_variant Q222H 666G>T UCEC-US 3 33420200 33420200 single base substitution G T missense_variant Q238H 714G>T UCEC-US 3 33420200 33420200 single base substitution G T missense_variant Q306H 918G>T UCEC-US 3 33420200 33420200 single base substitution G T upstream_gene_variant UCEC-US 3 33425643 33425643 single base substitution G A 3_prime_UTR_variant UCEC-US 3 33425643 33425643 single base substitution G A exon_variant UCEC-US 3 33425643 33425643 single base substitution G A missense_variant E113K 337G>A UCEC-US 3 33425643 33425643 single base substitution G A missense_variant E288K 862G>A UCEC-US 3 33425643 33425643 single base substitution G A missense_variant E304K 910G>A UCEC-US 3 33425643 33425643 single base substitution G A missense_variant E372K 1114G>A UCEC-US 3 33425643 33425643 single base substitution G A missense_variant E82K 244G>A UCEC-US 3 33425651 33425651 single base substitution C T 3_prime_UTR_variant UCEC-US 3 33425651 33425651 single base substitution C T exon_variant UCEC-US 3 33425651 33425651 single base substitution C T synonymous_variant Y115Y 345C>T UCEC-US 3 33425651 33425651 single base substitution C T synonymous_variant Y290Y 870C>T UCEC-US 3 33425651 33425651 single base substitution C T synonymous_variant Y306Y 918C>T UCEC-US 3 33425651 33425651 single base substitution C T synonymous_variant Y374Y 1122C>T UCEC-US 3 33425651 33425651 single base substitution C T synonymous_variant Y84Y 252C>T UCEC-US 3 33427035 33427035 single base substitution G A 3_prime_UTR_variant UCEC-US 3 33427035 33427035 single base substitution G A exon_variant UCEC-US 3 33427035 33427035 single base substitution G A missense_variant V113I 337G>A UCEC-US 3 33427035 33427035 single base substitution G A missense_variant V144I 430G>A UCEC-US 3 33427035 33427035 single base substitution G A missense_variant V319I 955G>A UCEC-US 3 33427035 33427035 single base substitution G A missense_variant V335I 1003G>A UCEC-US 3 33427035 33427035 single base substitution G A missense_variant V403I 1207G>A UCEC-US 3 33434837 33434837 single base substitution A G intron_variant UCEC-US 3 33434923 33434923 single base substitution C A intron_variant UCEC-US 3 33437717 33437717 single base substitution C T intron_variant UCEC-US 3 33438562 33438562 single base substitution G A intron_variant UCEC-US 3 33438622 33438622 single base substitution C T intron_variant UCEC-US 3 33444392 33444392 single base substitution G T intron_variant

Mutation - COSMIC Sample Name Mutation ID Mutation CDS Mutation AA Mutation Description Mutation Genome Position Mutation Strand TCGA-BH-A18P-01 COSM446376 c.895-1G>C p.? Unknown 3:33378684-33378684 + TCGA-AP-A0LE-01 COSM1043715 c.253T>C p.L85L Substitution - coding silent 3:33364682-33364682 + T14 COSM5617847 c.670G>A p.E224K Substitution - Missense 3:33375300-33375300 + TCGA-DK-A2I4-01 COSM3774922 c.319G>A p.E107K Substitution - Missense 3:33373120-33373120 + PT52 COSM5939101 c.625G>A p.E209K Substitution - Missense 3:33373889-33373889 + COLO678 COSM2984383 c.1128C>T p.C376C Substitution - coding silent 3:33384165-33384165 + TCGA-D1-A15X-01 COSM1043735 c.1207G>A p.V403I Substitution - Missense 3:33385543-33385543 + 3N38-VS-3T38 COSM4981393 c.715C>T p.L239F Substitution - Missense 3:33375345-33375345 + DN15001 COSM5962110 c.573C>T p.G191G Substitution - coding silent 3:33373695-33373695 + TCGA-EE-A2MD-06 COSM3592518 c.74C>T p.S25F Substitution - Missense 3:33358975-33358975 + TCGA-AA-A00N-01 COSM275137 c.218C>T p.S73L Substitution - Missense 3:33364647-33364647 + T578 COSM4683888 c.535C>T p.R179* Substitution - Nonsense 3:33373657-33373657 + TCGA-GN-A263-01 COSM3592521 c.805C>T p.R269* Substitution - Nonsense 3:33377289-33377289 + CRC-02T COSM5455181 c.1253G>T p.R418M Substitution - Missense 3:33385589-33385589 + TCGA-GL-A59T-01 COSM3993033 c.654C>T p.C218C Substitution - coding silent 3:33373918-33373918 + YUKAT COSM5399073 c.991C>T p.L331L Substitution - coding silent 3:33384028-33384028 + TCGA-AR-A2LN-01 COSM3823684 c.717C>T p.L239L Substitution - coding silent 3:33375347-33375347 + ATL045 COSM5708716 c.202G>C p.V68L Substitution - Missense 3:33364631-33364631 + TCGA-EE-A183-06 COSM3592523 c.1060A>G p.I354V Substitution - Missense 3:33384097-33384097 + TCGA-EK-A2RE-01 COSM4820432 c.229G>A p.G77S Substitution - Missense 3:33364658-33364658 + TCGA-AC-A3TN-01 COSM3823682 c.335A>G p.N112S Substitution - Missense 3:33373136-33373136 + CCRF-CEM COSM1670045 c.1156C>T p.R386W Substitution - Missense 3:33384193-33384193 + TCGA-A3-3374-01 COSM275137 c.218C>T p.S73L Substitution - Missense 3:33364647-33364647 + YUKAT COSM5399070 c.923C>T p.S308F Substitution - Missense 3:33378713-33378713 + TCGA-D5-6540-01 COSM1422441 c.1218G>A p.P406P Substitution - coding silent 3:33385554-33385554 + SC_9008 COSM2984395 c.1243C>T p.R415* Substitution - Nonsense 3:33385579-33385579 + TCGA-EI-6507-01 COSM1566813 c.1192G>A p.A398T Substitution - Missense 3:33385528-33385528 + RK121_C01 COSM3767401 c.66-2A>G p.? Unknown 3:33358965-33358965 + RK040_C01 COSM3702412 c.250A>C p.S84R Substitution - Missense 3:33364679-33364679 + TCGA-B5-A11E-01 COSM1043719 c.651C>A p.S217S Substitution - coding silent 3:33373915-33373915 + SK-OV-3 COSM1670043 c.1040A>G p.E347G Substitution - Missense 3:33384077-33384077 + TCGA-CK-5913-01 COSM1422440 c.345delA p.I117fs*16 Deletion - Frameshift 3:33373146-33373146 + 2530678 COSM5885440 c.1177C>T p.H393Y Substitution - Missense 3:33385513-33385513 + ACINAR28 COSM1734286 c.345_346insA p.I117fs*3 Insertion - Frameshift 3:33373146-33373147 + Pat_01_B COSM1043735 c.1207G>A p.V403I Substitution - Missense 3:33385543-33385543 + TCGA-BR-8368-01 COSM4116959 c.689G>A p.C230Y Substitution - Missense 3:33375319-33375319 + ESCC-D13 COSM5045316 c.874G>A p.D292N Substitution - Missense 3:33378127-33378127 + TCGA-BS-A0UF-01 COSM1043713 c.66-1G>T p.? Unknown 3:33358966-33358966 + TCGA-BR-6452-01 COSM4116961 c.1052G>A p.C351Y Substitution - Missense 3:33384089-33384089 + TCGA-76-4934-01 COSM3408604 c.551T>G p.L184R Substitution - Missense 3:33373673-33373673 + TCGA-AP-A059-01 COSM1043717 c.438C>T p.S146S Substitution - coding silent 3:33373338-33373338 + GHE0436 COSM5713729 c.122C>T p.A41V Substitution - Missense 3:33359284-33359284 + TCGA-B5-A11U-01 COSM1043723 c.730T>C p.C244R Substitution - Missense 3:33375360-33375360 + STC243 COSM5059657 c.1204C>T p.P402S Substitution - Missense 3:33385540-33385540 + HCC145T COSM5811475 c.1027C>T p.L343L Substitution - coding silent 3:33384064-33384064 + 66 COSM3592521 c.805C>T p.R269* Substitution - Nonsense 3:33377289-33377289 + CSCC-27-T COSM4567411 c.704_705GG>AA p.R235Q Substitution - Missense 3:33375334-33375335 + T3080 COSM4683886 c.294C>A p.T98T Substitution - coding silent 3:33373095-33373095 + 66 COSM5742939 c.362C>T p.T121M Substitution - Missense 3:33373262-33373262 + SWE-4A COSM1179516 c.658C>T p.R220C Substitution - Missense 3:33375288-33375288 + SC_9008 COSM275137 c.218C>T p.S73L Substitution - Missense 3:33364647-33364647 + TCGA-AU-6004-01 COSM1422440 c.345delA p.I117fs*16 Deletion - Frameshift 3:33373146-33373146 + TCGA-AP-A059-01 COSM1043729 c.918G>T p.Q306H Substitution - Missense 3:33378708-33378708 + BD230T COSM5496703 c.518G>A p.G173D Substitution - Missense 3:33373640-33373640 + PD6721a COSM5791680 c.1105G>A p.E369K Substitution - Missense 3:33384142-33384142 + TCGA-CU-A3YL-01 COSM3774924 c.663C>T p.I221I Substitution - coding silent 3:33375293-33375293 + KPOPBR-14-T COSM4323652 c.4-8C>T p.? Unknown 3:33297656-33297656 + CSCC-46-T COSM4471067 c.169C>G p.L57V Substitution - Missense 3:33359331-33359331 + 0034_CRUK_PC_0034_T1_DNA COSM5422104 c.291-8C>A p.? Unknown 3:33373084-33373084 + TCGA-A2-A4S3-01 COSM3823686 c.788+1G>T p.? Unknown 3:33375419-33375419 + 66 COSM5742941 c.779C>T p.P260L Substitution - Missense 3:33375409-33375409 + TCGA-EJ-5509-01 COSM1131477 c.99C>T p.C33C Substitution - coding silent 3:33359000-33359000 + TCGA-FS-A1ZA-06 COSM3592519 c.169C>T p.L57F Substitution - Missense 3:33359331-33359331 + TCGA-EW-A1P3-01 COSM1485095 c.248T>G p.L83R Substitution - Missense 3:33364677-33364677 + TCGA-EM-A4FV-01 COSM3373148 c.895A>G p.I299V Substitution - Missense 3:33378685-33378685 + TCGA-AX-A05Z-01 COSM1043731 c.1114G>A p.E372K Substitution - Missense 3:33384151-33384151 + ESCC_55 COSM5631932 c.444G>C p.L148F Substitution - Missense 3:33373344-33373344 + ESO-2472 COSM1252240 c.437G>T p.S146I Substitution - Missense 3:33373337-33373337 + 3206A7_009_T COSM5038906 c.749C>A p.A250D Substitution - Missense 3:33375379-33375379 + SC_9100 COSM5554279 c.179T>C p.F60S Substitution - Missense 3:33359341-33359341 + 8015299 COSM1043733 c.1122C>T p.Y374Y Substitution - coding silent 3:33384159-33384159 + ESCC_BICR_030T COSM2984366 c.725C>T p.S242L Substitution - Missense 3:33375355-33375355 + TCGA-EJ-7321-01 COSM1471682 c.431C>A p.T144K Substitution - Missense 3:33373331-33373331 + TCGA-D1-A17Q-01 COSM1043733 c.1122C>T p.Y374Y Substitution - coding silent 3:33384159-33384159 + TCGA-66-2786-01 COSM730305 c.78C>G p.F26L Substitution - Missense 3:33358979-33358979 + TCGA-BK-A0C9-01 COSM1043721 c.659G>A p.R220H Substitution - Missense 3:33375289-33375289 + TCGA-B5-A11E-01 COSM1043725 c.780G>A p.P260P Substitution - coding silent 3:33375410-33375410 + CSCC-11-T COSM4567103 c.569_570GG>AA p.R190K Substitution - Missense 3:33373691-33373692 + TCGA-G4-6628-01 COSM1422439 c.228C>T p.C76C Substitution - coding silent 3:33364657-33364657 + TCGA-AX-A0J1-01 COSM1043727 c.830G>A p.G277D Substitution - Missense 3:33377314-33377314 + TCGA-DK-A1A3-01 COSM420043 c.153C>G p.N51K Substitution - Missense 3:33359315-33359315 + TCGA-AG-4005-01 COSM289363 c.900C>T p.T300T Substitution - coding silent 3:33378690-33378690 + EGC15 COSM5059660 c.1228G>A p.A410T Substitution - Missense 3:33385564-33385564 + SNU-C2B COSM2984366 c.725C>T p.S242L Substitution - Missense 3:33375355-33375355 + Au3 COSM5601477 c.1054C>T p.L352F Substitution - Missense 3:33384091-33384091 + TARGET-30-PASYMX COSM1284925 c.221A>G p.K74R Substitution - Missense 3:33364650-33364650 + Mx42 COSM32816 c.676G>A p.V226M Substitution - Missense 3:33375306-33375306 + 587220 COSM1206777 c.704G>A p.R235Q Substitution - Missense 3:33375334-33375334 + C91 COSM4444909 c.1097G>A p.R366Q Substitution - Missense 3:33384134-33384134 + OSCC-GB_00630111 COSM4885034 c.961C>T p.H321Y Substitution - Missense 3:33383998-33383998 + sysucc-880T COSM5463249 c.638T>C p.L213P Substitution - Missense 3:33373902-33373902 + CSCC-49-T COSM4456667 c.1018C>T p.H340Y Substitution - Missense 3:33384055-33384055 + TCGA-ER-A19E-06 COSM3592520 c.181C>T p.Q61* Substitution - Nonsense 3:33359343-33359343 +

Mutation - CGAP UNIGENE CYTOBAND OMIM SNP Hs.475872 3p22.3 605652

Mutation - IntOGen Mutated from(ref) Mutated to(alt) Consequence Type AA Mutation CDS Mutation Chr Pos Cancer A - 3-UTRDeletion . c.1269+702delA 3 33427797 RCCC A - 3-UTRDeletion . c.1269+757delA 3 33427849 RCCC A G Missense p.I23V c.67A>G 3 33400460 COREAD A G Missense p.I354V c.1060A>G 3 33425589 CM A G Missense p.K74R c.221A>G 3 33406142 NB A G Synonymous p.T407T c.1221A>G 3 33427049 HNSC C A Missense p.T144K c.431C>A 3 33414823 PRAD C A Synonymous p.P402P c.1206C>A 3 33427034 LUAD C G Missense p.F26L c.78C>G 3 33400471 LUSC C G Missense p.I169M c.507C>G 3 33415121 MM C G Missense p.N51K c.153C>G 3 33400807 BLCA C G Missense p.T407R c.1220C>G 3 33427048 MM C T IntronicSNV . c.196-20C>T 3 33406097 CM C T Missense p.L57F c.169C>T 3 33400823 CM C T Missense p.P405L c.1214C>T 3 33427042 MM C T Missense p.S25F c.74C>T 3 33400467 CM C T Missense p.S39F c.116C>T 3 33400509 CM C T Nonsense p.Q61* c.181C>T 3 33400835 CM C T Nonsense p.R269* c.805C>T 3 33418781 CM C T Synonymous p.C33C c.99C>T 3 33400492 PRAD C T Synonymous p.G367G c.1101C>T 3 33425630 BRCA C T Synonymous p.T300T c.900C>T 3 33420182 COREAD GA AT Missense p.T407S c.1218_1219delinsAT 3 33427046 CM G A Missense p.E107K c.319G>A 3 33414612 BLCA G A Missense p.R220H c.659G>A 3 33416781 UCEC G A Missense p.R34Q c.101G>A 3 33400494 COREAD G A Missense p.V226M c.676G>A 3 33416798 COREAD G T Missense p.S146I c.437G>T 3 33414829 ESCA T C IntronicSNV . c.196-200T>C 3 33405917 DLBCL T C Missense p.C244R c.730T>C 3 33416852 UCEC T C Synonymous p.L85L c.253T>C 3 33406174 UCEC T G IntronicSNV . c.291-589T>G 3 33413995 HC T G Missense p.L184R c.551T>G 3 33415165 GBM T G Missense p.L83R c.248T>G 3 33406169 BRCA