Mutation - TCGA Type Chromosome Start Position End Position Strand Variant Classification Variant Type Reference Allele Tumor_seq Allele 1 Tumor_seq Allele 2 Tumor Sample Barcode Matched Norm Sample Barcode Genome Change cDNA Change Codon Change Protein Change BLCA 8 22862930 22862930 + Silent SNP C C T TCGA-MV-A51V-01A-11D-A26M-08 TCGA-MV-A51V-10A-01D-A26K-08 g.chr8:22862930C>T c.238C>T c.(238-240)Ctg>Ttg p.L80L BLCA 8 22864592 22864592 + Missense_Mutation SNP C C G TCGA-UY-A78M-01A-21D-A34U-08 TCGA-UY-A78M-10A-01D-A34X-08 g.chr8:22864592C>G c.834C>G c.(832-834)atC>atG p.I278M BLCA 8 22864615 22864615 + Missense_Mutation SNP C C G TCGA-DK-A1AC-01A-11D-A13W-08 TCGA-DK-A1AC-10A-01D-A13W-08 g.chr8:22864615C>G c.857C>G c.(856-858)tCc>tGc p.S286C BLCA 8 22864634 22864634 + Silent SNP C C T TCGA-UY-A78M-01A-21D-A34U-08 TCGA-UY-A78M-10A-01D-A34X-08 g.chr8:22864634C>T c.876C>T c.(874-876)ttC>ttT p.F292F BRCA 8 22861955 22861955 + Missense_Mutation SNP C C T TCGA-AN-A046-01A-21W-A050-09 TCGA-AN-A046-10A-01W-A055-09 g.chr8:22861955C>T c.8C>T c.(7-9)tCt>tTt p.S3F BRCA 8 22862905 22862905 + Silent SNP C C T TCGA-D8-A1JL-01A-11D-A13L-09 TCGA-D8-A1JL-10A-01D-A188-09 g.chr8:22862905C>T c.213C>T c.(211-213)gaC>gaT p.D71D BRCA 8 22863544 22863544 + Missense_Mutation SNP A A C TCGA-A8-A0A6-01A-12W-A071-09 TCGA-A8-A0A6-10A-01W-A071-09 g.chr8:22863544A>C c.368A>C c.(367-369)tAc>tCc p.Y123S BRCA 8 22864368 22864368 + Missense_Mutation SNP A A G TCGA-D8-A1XK-01A-21D-A14K-09 TCGA-D8-A1XK-10A-01D-A14K-09 g.chr8:22864368A>G c.610A>G c.(610-612)Atc>Gtc p.I204V BRCA 8 22864740 22864740 + Missense_Mutation SNP C C T TCGA-D8-A1XK-01A-21D-A14K-09 TCGA-D8-A1XK-10A-01D-A14K-09 g.chr8:22864740C>T c.982C>T c.(982-984)Cac>Tac p.H328Y BRCA 8 22868052 22868052 + Splice_Site SNP T T G TCGA-A8-A0A6-01A-12W-A071-09 TCGA-A8-A0A6-10A-01W-A071-09 g.chr8:22868052T>G c.1622T>G c.(1621-1623)gTg>gGg p.V541G CESC 8 22862930 22862930 + Silent SNP C C T TCGA-C5-A1BQ-01C-11D-A20U-09 TCGA-C5-A1BQ-10A-01D-A20U-09 g.chr8:22862930C>T c.238C>T c.(238-240)Ctg>Ttg p.L80L CESC 8 22862930 22862930 + Silent SNP C C T TCGA-C5-A3HL-01A-11D-A20U-09 TCGA-C5-A3HL-10A-01D-A20U-09 g.chr8:22862930C>T c.238C>T c.(238-240)Ctg>Ttg p.L80L CESC 8 22865591 22865591 + Silent SNP T T C TCGA-FU-A3HZ-01A-11D-A20U-09 TCGA-FU-A3HZ-10A-01D-A20U-09 g.chr8:22865591T>C c.1587T>C c.(1585-1587)ttT>ttC p.F529F COAD 8 22862116 22862116 + Missense_Mutation SNP G G A TCGA-AA-3977-01A-01W-0995-10 TCGA-AA-3977-10A-01W-0999-10 g.chr8:22862116G>A c.169G>A c.(169-171)Gac>Aac p.D57N COAD 8 22862973 22862973 + Missense_Mutation SNP G G A TCGA-AA-A00R-01A-01W-A005-10 TCGA-AA-A00R-10A-01W-A005-10 g.chr8:22862973G>A c.281G>A c.(280-282)cGc>cAc p.R94H COAD 8 22863640 22863640 + Missense_Mutation SNP C C T TCGA-AA-3864-01A-01W-0995-10 TCGA-AA-3864-10A-01W-0995-10 g.chr8:22863640C>T c.464C>T c.(463-465)gCt>gTt p.A155V COAD 8 22864596 22864597 + Frame_Shift_Ins INS - - C TCGA-AZ-6598-01A-11D-1771-10 TCGA-AZ-6598-11A-01D-1771-10 g.chr8:22864596_22864597insC c.838_839insC c.(838-840)gccfs p.A280fs COAD 8 22864830 22864830 + Missense_Mutation SNP G G T TCGA-F4-6570-01A-11D-1771-10 TCGA-F4-6570-10A-01D-1771-10 g.chr8:22864830G>T c.1072G>T c.(1072-1074)Ggt>Tgt p.G358C COAD 8 22865062 22865062 + Missense_Mutation SNP C C T TCGA-AA-A01F-01A-01W-A005-10 TCGA-AA-A01F-10A-01W-A005-10 g.chr8:22865062C>T c.1304C>T c.(1303-1305)aCg>aTg p.T435M COAD 8 22865168 22865168 + Silent SNP T T C TCGA-CK-6746-01A-11D-1835-10 TCGA-CK-6746-10A-01D-1835-10 g.chr8:22865168T>C c.1410T>C c.(1408-1410)aaT>aaC p.N470N COADREAD 8 22862116 22862116 + Missense_Mutation SNP G G A TCGA-AA-3977-01A-01W-0995-10 TCGA-AA-3977-10A-01W-0999-10 g.chr8:22862116G>A c.169G>A c.(169-171)Gac>Aac p.D57N COADREAD 8 22862973 22862973 + Missense_Mutation SNP G G A TCGA-AA-A00R-01A-01W-A005-10 TCGA-AA-A00R-10A-01W-A005-10 g.chr8:22862973G>A c.281G>A c.(280-282)cGc>cAc p.R94H COADREAD 8 22863640 22863640 + Missense_Mutation SNP C C T TCGA-AA-3864-01A-01W-0995-10 TCGA-AA-3864-10A-01W-0995-10 g.chr8:22863640C>T c.464C>T c.(463-465)gCt>gTt p.A155V COADREAD 8 22864340 22864340 + Silent SNP C C T TCGA-AG-A002-01A-01W-A00K-09 TCGA-AG-A002-10A-01W-A00K-09 g.chr8:22864340C>T c.582C>T c.(580-582)ttC>ttT p.F194F COADREAD 8 22864596 22864597 + Frame_Shift_Ins INS - - C TCGA-AZ-6598-01A-11D-1771-10 TCGA-AZ-6598-11A-01D-1771-10 g.chr8:22864596_22864597insC c.838_839insC c.(838-840)gccfs p.A280fs COADREAD 8 22864634 22864634 + Missense_Mutation SNP C C A TCGA-AG-A002-01A-01W-A00K-09 TCGA-AG-A002-10A-01W-A00K-09 g.chr8:22864634C>A c.876C>A c.(874-876)ttC>ttA p.F292L COADREAD 8 22864830 22864830 + Missense_Mutation SNP G G T TCGA-F4-6570-01A-11D-1771-10 TCGA-F4-6570-10A-01D-1771-10 g.chr8:22864830G>T c.1072G>T c.(1072-1074)Ggt>Tgt p.G358C COADREAD 8 22865062 22865062 + Missense_Mutation SNP C C T TCGA-AA-A01F-01A-01W-A005-10 TCGA-AA-A01F-10A-01W-A005-10 g.chr8:22865062C>T c.1304C>T c.(1303-1305)aCg>aTg p.T435M COADREAD 8 22865168 22865168 + Silent SNP T T C TCGA-CK-6746-01A-11D-1835-10 TCGA-CK-6746-10A-01D-1835-10 g.chr8:22865168T>C c.1410T>C c.(1408-1410)aaT>aaC p.N470N DLBC 8 22865187 22865187 + Missense_Mutation SNP G G A TCGA-GS-A9TW-01A-11D-A382-10 TCGA-GS-A9TW-10A-01D-A385-10 g.chr8:22865187G>A c.1429G>A c.(1429-1431)Gag>Aag p.E477K ESCA 8 22852126 22852126 + Silent SNP C C T TCGA-JY-A6FB-01A-11D-A33E-09 TCGA-JY-A6FB-10A-01D-A33H-09 g.chr8:22852126C>T c.30C>T c.(28-30)ggC>ggT p.G10G ESCA 8 22862121 22862121 + Silent SNP A A G TCGA-L5-A8NM-01A-11D-A37C-09 TCGA-L5-A8NM-11A-12D-A37F-09 g.chr8:22862121A>G c.174A>G c.(172-174)caA>caG p.Q58Q GBM 8 22864290 22864290 + Missense_Mutation SNP G G A TCGA-06-2557-01A-01D-1494-08 TCGA-06-2557-10A-01D-1494-08 g.chr8:22864290G>A c.532G>A c.(532-534)Gcc>Acc p.A178T GBMLGG 8 22864290 22864290 + Missense_Mutation SNP G G A TCGA-06-2557-01A-01D-1494-08 TCGA-06-2557-10A-01D-1494-08 g.chr8:22864290G>A c.532G>A c.(532-534)Gcc>Acc p.A178T HNSC 8 22863632 22863632 + Silent SNP C C T TCGA-BA-A4IG-01A-11D-A25Y-08 TCGA-BA-A4IG-10A-01D-A25Y-08 g.chr8:22863632C>T c.456C>T c.(454-456)gtC>gtT p.V152V HNSC 8 22864371 22864371 + Nonsense_Mutation SNP C C T TCGA-CV-7437-01A-21D-2129-08 TCGA-CV-7437-10A-01D-2129-08 g.chr8:22864371C>T c.613C>T c.(613-615)Cga>Tga p.R205* HNSC 8 22864404 22864404 + Missense_Mutation SNP T T C TCGA-F7-A624-01A-22D-A30E-08 TCGA-F7-A624-10A-01D-A30H-08 g.chr8:22864404T>C c.646T>C c.(646-648)Ttc>Ctc p.F216L HNSC 8 22864434 22864434 + Missense_Mutation SNP C C T TCGA-CV-6962-01A-11D-1912-08 TCGA-CV-6962-10A-01D-1912-08 g.chr8:22864434C>T c.676C>T c.(676-678)Cgg>Tgg p.R226W KIPAN 8 22865538 22865538 + Missense_Mutation SNP A A G TCGA-B0-5098-01A-01D-1421-08 TCGA-B0-5098-11A-01D-1421-08 g.chr8:22865538A>G c.1534A>G c.(1534-1536)Agc>Ggc p.S512G KIRC 8 22865538 22865538 + Missense_Mutation SNP A A G TCGA-B0-5098-01A-01D-1421-08 TCGA-B0-5098-11A-01D-1421-08 g.chr8:22865538A>G c.1534A>G c.(1534-1536)Agc>Ggc p.S512G LIHC 8 22865129 22865129 + Silent SNP C C G TCGA-ZS-A9CG-01A-11D-A36X-10 TCGA-ZS-A9CG-10A-01D-A370-10 g.chr8:22865129C>G c.1371C>G c.(1369-1371)gtC>gtG p.V457V LUAD 8 22863618 22863618 + Missense_Mutation SNP G G T TCGA-44-4112-01A-01D-1105-08 TCGA-44-4112-10A-01D-1458-08 g.chr8:22863618G>T c.442G>T c.(442-444)Gac>Tac p.D148Y LUAD 8 22863646 22863646 + Missense_Mutation SNP G G T TCGA-44-8117-01A-11D-2238-08 TCGA-44-8117-10A-01D-2238-08 g.chr8:22863646G>T c.470G>T c.(469-471)cGa>cTa p.R157L LUAD 8 22864461 22864461 + Frame_Shift_Del DEL C C - TCGA-53-7624-01A-11D-2063-08 TCGA-53-7624-10A-01D-2063-08 g.chr8:22864461delC c.703delC c.(703-705)cccfs p.P236fs LUAD 8 22864676 22864676 + Silent SNP G G T TCGA-44-7670-01A-11D-2063-08 TCGA-44-7670-10A-01D-2063-08 g.chr8:22864676G>T c.918G>T c.(916-918)ggG>ggT p.G306G LUAD 8 22864878 22864878 + Missense_Mutation SNP A A T TCGA-44-8120-01A-11D-2238-08 TCGA-44-8120-10A-01D-2238-08 g.chr8:22864878A>T c.1120A>T c.(1120-1122)Aac>Tac p.N374Y LUAD 8 22865579 22865579 + Missense_Mutation SNP G G A TCGA-55-7911-01A-11D-2167-08 TCGA-55-7911-10A-01D-2167-08 g.chr8:22865579G>A c.1575G>A c.(1573-1575)atG>atA p.M525I LUAD 8 22868122 22868122 + Silent SNP C C T TCGA-44-2656-01A-02D-0969-08 TCGA-44-2656-10A-01D-0969-08 g.chr8:22868122C>T c.1692C>T c.(1690-1692)acC>acT p.T564T LUAD 8 22873257 22873257 + Splice_Site SNP G G T TCGA-17-Z028-01A-01W-0746-08 TCGA-17-Z028-11A-01W-0746-08 g.chr8:22873257G>T c.e9+1 LUAD 8 22874895 22874895 + Silent SNP G G T TCGA-69-7765-01A-11D-2167-08 TCGA-69-7765-10A-01D-2167-08 g.chr8:22874895G>T c.2097G>T c.(2095-2097)cgG>cgT p.R699R LUSC 8 22861981 22861981 + Missense_Mutation SNP G G A TCGA-51-4081-01A-01D-1458-08 TCGA-51-4081-11A-01D-1458-08 g.chr8:22861981G>A c.34G>A c.(34-36)Gta>Ata p.V12I LUSC 8 22862901 22862901 + Missense_Mutation SNP G G T TCGA-18-3416-01A-01D-0983-08 TCGA-18-3416-11A-01D-0983-08 g.chr8:22862901G>T c.209G>T c.(208-210)cGa>cTa p.R70L LUSC 8 22874894 22874894 + Missense_Mutation SNP G G A TCGA-60-2698-01A-01D-1522-08 TCGA-60-2698-11A-01D-1522-08 g.chr8:22874894G>A c.2096G>A c.(2095-2097)cGg>cAg p.R699Q OV 8 22864559 22864559 + Silent SNP C C T TCGA-24-2254-01A-01W-0722-08 TCGA-24-2254-10A-01W-0722-08 g.chr8:22864559C>T c.801C>T c.(799-801)gaC>gaT p.D267D PAAD 8 22864416 22864416 + Missense_Mutation SNP C C G TCGA-HZ-7918-01A-11D-2154-08 TCGA-HZ-7918-10A-01D-2154-08 g.chr8:22864416C>G c.658C>G c.(658-660)Cac>Gac p.H220D PAAD 8 22864647 22864647 + Missense_Mutation SNP C C A TCGA-IB-7651-01A-11D-2154-08 TCGA-IB-7651-10A-01D-2154-08 g.chr8:22864647C>A c.889C>A c.(889-891)Ctc>Atc p.L297I PAAD 8 22864733 22864733 + Silent SNP A A G TCGA-IB-7651-01A-11D-2154-08 TCGA-IB-7651-10A-01D-2154-08 g.chr8:22864733A>G c.975A>G c.(973-975)caA>caG p.Q325Q PRAD 8 22862016 22862016 + Silent SNP C C T TCGA-J9-A52C-01A-11D-A26M-08 TCGA-J9-A52C-10A-01D-A26K-08 g.chr8:22862016C>T c.69C>T c.(67-69)aaC>aaT p.N23N PRAD 8 22862091 22862091 + Silent SNP G G A TCGA-XK-AAIW-01A-11D-A41K-08 TCGA-XK-AAIW-10A-01D-A41N-08 g.chr8:22862091G>A c.144G>A c.(142-144)acG>acA p.T48T PRAD 8 22872264 22872264 + Silent SNP C C T TCGA-XK-AAIW-01A-11D-A41K-08 TCGA-XK-AAIW-10A-01D-A41N-08 g.chr8:22872264C>T c.1833C>T c.(1831-1833)gaC>gaT p.D611D READ 8 22864340 22864340 + Silent SNP C C T TCGA-AG-A002-01A-01W-A00K-09 TCGA-AG-A002-10A-01W-A00K-09 g.chr8:22864340C>T c.582C>T c.(580-582)ttC>ttT p.F194F READ 8 22864634 22864634 + Missense_Mutation SNP C C A TCGA-AG-A002-01A-01W-A00K-09 TCGA-AG-A002-10A-01W-A00K-09 g.chr8:22864634C>A c.876C>A c.(874-876)ttC>ttA p.F292L SKCM 8 22862018 22862018 + Missense_Mutation SNP C C T TCGA-ER-A19G-06A-11D-A196-08 TCGA-ER-A19G-10A-01D-A198-08 g.chr8:22862018C>T c.71C>T c.(70-72)gCc>gTc p.A24V SKCM 8 22863539 22863539 + Missense_Mutation SNP G G T TCGA-ER-A19P-06A-11D-A196-08 TCGA-ER-A19P-10A-01D-A198-08 g.chr8:22863539G>T c.363G>T c.(361-363)atG>atT p.M121I SKCM 8 22864244 22864244 + Silent SNP C C T TCGA-DA-A3F5-06A-11D-A20D-08 TCGA-DA-A3F5-10A-01D-A20D-08 g.chr8:22864244C>T c.486C>T c.(484-486)ccC>ccT p.P162P SKCM 8 22864281 22864281 + Missense_Mutation SNP C C T TCGA-EE-A2GI-06A-11D-A196-08 TCGA-EE-A2GI-10A-01D-A198-08 g.chr8:22864281C>T c.523C>T c.(523-525)Cgg>Tgg p.R175W SKCM 8 22864607 22864607 + Silent SNP C C T TCGA-EE-A3JI-06A-11D-A21A-08 TCGA-EE-A3JI-10A-01D-A21A-08 g.chr8:22864607C>T c.849C>T c.(847-849)atC>atT p.I283I SKCM 8 22864607 22864607 + Silent SNP C C T TCGA-GN-A266-06A-11D-A197-08 TCGA-GN-A266-10A-01D-A199-08 g.chr8:22864607C>T c.849C>T c.(847-849)atC>atT p.I283I SKCM 8 22864685 22864685 + Silent SNP G G A TCGA-EE-A2GT-06A-12D-A197-08 TCGA-EE-A2GT-10A-01D-A199-08 g.chr8:22864685G>A c.927G>A c.(925-927)tcG>tcA p.S309S SKCM 8 22864765 22864765 + Missense_Mutation SNP G G A TCGA-EE-A2GO-06A-11D-A196-08 TCGA-EE-A2GO-10A-01D-A198-08 g.chr8:22864765G>A c.1007G>A c.(1006-1008)cGa>cAa p.R336Q

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 8 22864615 22864615 single base substitution C G downstream_gene_variant BLCA-US 8 22864615 22864615 single base substitution C G missense_variant S286C 857C>G BLCA-US 8 22864615 22864615 single base substitution C G missense_variant S293C 878C>G BLCA-US 8 22864615 22864615 single base substitution C G missense_variant S308C 923C>G BLCA-US 8 22864615 22864615 single base substitution C G upstream_gene_variant BOCA-UK 8 22864326 22864326 single base substitution G T downstream_gene_variant BOCA-UK 8 22864326 22864326 single base substitution G T missense_variant V190L 568G>T BOCA-UK 8 22864326 22864326 single base substitution G T missense_variant V197L 589G>T BOCA-UK 8 22864326 22864326 single base substitution G T missense_variant V212L 634G>T BOCA-UK 8 22864326 22864326 single base substitution G T upstream_gene_variant BRCA-EU 8 22841474 22841474 single base substitution C A upstream_gene_variant BRCA-EU 8 22841639 22841639 deletion of <=200bp A - upstream_gene_variant BRCA-EU 8 22845916 22845916 single base substitution C A intron_variant BRCA-EU 8 22845916 22845916 single base substitution C A upstream_gene_variant BRCA-EU 8 22846052 22846052 single base substitution C T intron_variant BRCA-EU 8 22846052 22846052 single base substitution C T upstream_gene_variant BRCA-EU 8 22846366 22846366 single base substitution G A intron_variant BRCA-EU 8 22846366 22846366 single base substitution G A upstream_gene_variant BRCA-EU 8 22846671 22846671 deletion of <=200bp T - intron_variant BRCA-EU 8 22846671 22846671 deletion of <=200bp T - upstream_gene_variant BRCA-EU 8 22847250 22847250 single base substitution G A intron_variant BRCA-EU 8 22847250 22847250 single base substitution G A upstream_gene_variant BRCA-EU 8 22847294 22847294 single base substitution G C intron_variant BRCA-EU 8 22847294 22847294 single base substitution G C upstream_gene_variant BRCA-EU 8 22847509 22847509 single base substitution G C intron_variant BRCA-EU 8 22847509 22847509 single base substitution G C upstream_gene_variant BRCA-EU 8 22848151 22848151 single base substitution G C intron_variant BRCA-EU 8 22848151 22848151 single base substitution G C upstream_gene_variant BRCA-EU 8 22850046 22850046 single base substitution C T intron_variant BRCA-EU 8 22850046 22850046 single base substitution C T upstream_gene_variant BRCA-EU 8 22851433 22851433 insertion of <=200bp - T intron_variant BRCA-EU 8 22851433 22851433 insertion of <=200bp - T upstream_gene_variant BRCA-EU 8 22851763 22851763 single base substitution G T intron_variant BRCA-EU 8 22851763 22851763 single base substitution G T upstream_gene_variant BRCA-EU 8 22852273 22852273 deletion of <=200bp A - intron_variant BRCA-EU 8 22852273 22852273 deletion of <=200bp A - upstream_gene_variant BRCA-EU 8 22861633 22861633 single base substitution G A downstream_gene_variant BRCA-EU 8 22861633 22861633 single base substitution G A exon_variant BRCA-EU 8 22861633 22861633 single base substitution G A intron_variant BRCA-EU 8 22861633 22861633 single base substitution G A upstream_gene_variant BRCA-EU 8 22864830 22864830 single base substitution G A downstream_gene_variant BRCA-EU 8 22864830 22864830 single base substitution G A missense_variant G358S 1072G>A BRCA-EU 8 22864830 22864830 single base substitution G A missense_variant G365S 1093G>A BRCA-EU 8 22864830 22864830 single base substitution G A missense_variant G380S 1138G>A BRCA-EU 8 22864830 22864830 single base substitution G A upstream_gene_variant BRCA-EU 8 22864834 22864834 single base substitution C G downstream_gene_variant BRCA-EU 8 22864834 22864834 single base substitution C G missense_variant P359R 1076C>G BRCA-EU 8 22864834 22864834 single base substitution C G missense_variant P366R 1097C>G BRCA-EU 8 22864834 22864834 single base substitution C G missense_variant P381R 1142C>G BRCA-EU 8 22864834 22864834 single base substitution C G upstream_gene_variant BRCA-EU 8 22869477 22869477 single base substitution G C downstream_gene_variant BRCA-EU 8 22869477 22869477 single base substitution G C intron_variant BRCA-EU 8 22869809 22869809 single base substitution G A downstream_gene_variant BRCA-EU 8 22869809 22869809 single base substitution G A intron_variant BRCA-EU 8 22870457 22870457 single base substitution C T downstream_gene_variant BRCA-EU 8 22870457 22870457 single base substitution C T intron_variant BRCA-EU 8 22871547 22871547 single base substitution G A downstream_gene_variant BRCA-EU 8 22871547 22871547 single base substitution G A intron_variant BRCA-EU 8 22872712 22872712 single base substitution G T downstream_gene_variant BRCA-EU 8 22872712 22872712 single base substitution G T intron_variant BRCA-EU 8 22877643 22877644 deletion of <=200bp CT - 3_prime_UTR_variant BRCA-EU 8 22877643 22877644 deletion of <=200bp CT - downstream_gene_variant BRCA-EU 8 22878113 22878113 single base substitution G A downstream_gene_variant BRCA-FR 8 22845480 22845480 single base substitution T C intron_variant BRCA-FR 8 22845480 22845480 single base substitution T C upstream_gene_variant BRCA-FR 8 22846366 22846366 single base substitution G A intron_variant BRCA-FR 8 22846366 22846366 single base substitution G A upstream_gene_variant BRCA-FR 8 22874618 22874618 single base substitution G A intron_variant BRCA-UK 8 22842394 22842394 single base substitution C G upstream_gene_variant BRCA-UK 8 22853081 22853081 single base substitution C G intron_variant BRCA-UK 8 22853081 22853081 single base substitution C G upstream_gene_variant BRCA-UK 8 22881704 22881704 single base substitution C T downstream_gene_variant BRCA-US 8 22852085 22852085 single base substitution G A 5_prime_UTR_variant BRCA-US 8 22852085 22852085 single base substitution G A exon_variant BRCA-US 8 22852085 22852085 single base substitution G A upstream_gene_variant BRCA-US 8 22861955 22861955 single base substitution C T exon_variant BRCA-US 8 22861955 22861955 single base substitution C T missense_variant S10F 29C>T BRCA-US 8 22861955 22861955 single base substitution C T missense_variant S25F 74C>T BRCA-US 8 22861955 22861955 single base substitution C T missense_variant S3F 8C>T BRCA-US 8 22861955 22861955 single base substitution C T upstream_gene_variant BRCA-US 8 22862905 22862905 single base substitution C T downstream_gene_variant BRCA-US 8 22862905 22862905 single base substitution C T exon_variant BRCA-US 8 22862905 22862905 single base substitution C T synonymous_variant D71D 213C>T BRCA-US 8 22862905 22862905 single base substitution C T synonymous_variant D78D 234C>T BRCA-US 8 22862905 22862905 single base substitution C T synonymous_variant D93D 279C>T BRCA-US 8 22862905 22862905 single base substitution C T upstream_gene_variant BRCA-US 8 22863544 22863544 single base substitution A C downstream_gene_variant BRCA-US 8 22863544 22863544 single base substitution A C exon_variant BRCA-US 8 22863544 22863544 single base substitution A C missense_variant Y123S 368A>C BRCA-US 8 22863544 22863544 single base substitution A C missense_variant Y130S 389A>C BRCA-US 8 22863544 22863544 single base substitution A C missense_variant Y145S 434A>C BRCA-US 8 22863544 22863544 single base substitution A C upstream_gene_variant BRCA-US 8 22864368 22864368 single base substitution A G downstream_gene_variant BRCA-US 8 22864368 22864368 single base substitution A G missense_variant I204V 610A>G BRCA-US 8 22864368 22864368 single base substitution A G missense_variant I211V 631A>G BRCA-US 8 22864368 22864368 single base substitution A G missense_variant I226V 676A>G BRCA-US 8 22864368 22864368 single base substitution A G upstream_gene_variant BRCA-US 8 22864740 22864740 single base substitution C T downstream_gene_variant BRCA-US 8 22864740 22864740 single base substitution C T missense_variant H328Y 982C>T BRCA-US 8 22864740 22864740 single base substitution C T missense_variant H335Y 1003C>T BRCA-US 8 22864740 22864740 single base substitution C T missense_variant H350Y 1048C>T BRCA-US 8 22864740 22864740 single base substitution C T upstream_gene_variant BRCA-US 8 22868052 22868052 single base substitution T G downstream_gene_variant BRCA-US 8 22868052 22868052 single base substitution T G missense_variant V541G 1622T>G BRCA-US 8 22868052 22868052 single base substitution T G missense_variant V548G 1643T>G BRCA-US 8 22868052 22868052 single base substitution T G missense_variant V563G 1688T>G BRCA-US 8 22868052 22868052 single base substitution T G splice_region_variant BRCA-US 8 22880477 22880477 single base substitution C A downstream_gene_variant BTCA-JP 8 22853295 22853295 single base substitution C T intron_variant BTCA-JP 8 22853295 22853295 single base substitution C T upstream_gene_variant BTCA-JP 8 22863469 22863469 single base substitution G A downstream_gene_variant BTCA-JP 8 22863469 22863469 single base substitution G A intron_variant BTCA-JP 8 22863469 22863469 single base substitution G A splice_region_variant BTCA-JP 8 22863469 22863469 single base substitution G A upstream_gene_variant BTCA-JP 8 22864282 22864282 single base substitution G A downstream_gene_variant BTCA-JP 8 22864282 22864282 single base substitution G A missense_variant R175Q 524G>A BTCA-JP 8 22864282 22864282 single base substitution G A missense_variant R182Q 545G>A BTCA-JP 8 22864282 22864282 single base substitution G A missense_variant R197Q 590G>A BTCA-JP 8 22864282 22864282 single base substitution G A upstream_gene_variant BTCA-JP 8 22864365 22864365 single base substitution G A downstream_gene_variant BTCA-JP 8 22864365 22864365 single base substitution G A missense_variant A203T 607G>A BTCA-JP 8 22864365 22864365 single base substitution G A missense_variant A210T 628G>A BTCA-JP 8 22864365 22864365 single base substitution G A missense_variant A225T 673G>A BTCA-JP 8 22864365 22864365 single base substitution G A upstream_gene_variant BTCA-JP 8 22872324 22872324 single base substitution C T downstream_gene_variant BTCA-JP 8 22872324 22872324 single base substitution C T intron_variant CESC-US 8 22852085 22852085 single base substitution G A 5_prime_UTR_variant CESC-US 8 22852085 22852085 single base substitution G A exon_variant CESC-US 8 22852085 22852085 single base substitution G A upstream_gene_variant CESC-US 8 22862930 22862930 single base substitution C T downstream_gene_variant CESC-US 8 22862930 22862930 single base substitution C T exon_variant CESC-US 8 22862930 22862930 single base substitution C T synonymous_variant L102L 304C>T CESC-US 8 22862930 22862930 single base substitution C T synonymous_variant L80L 238C>T CESC-US 8 22862930 22862930 single base substitution C T synonymous_variant L87L 259C>T CESC-US 8 22862930 22862930 single base substitution C T upstream_gene_variant CESC-US 8 22865591 22865591 single base substitution T C downstream_gene_variant CESC-US 8 22865591 22865591 single base substitution T C exon_variant CESC-US 8 22865591 22865591 single base substitution T C synonymous_variant F529F 1587T>C CESC-US 8 22865591 22865591 single base substitution T C synonymous_variant F536F 1608T>C CESC-US 8 22865591 22865591 single base substitution T C synonymous_variant F551F 1653T>C CLLE-ES 8 22856981 22856981 single base substitution G A downstream_gene_variant CLLE-ES 8 22856981 22856981 single base substitution G A intron_variant CLLE-ES 8 22856981 22856981 single base substitution G A upstream_gene_variant CLLE-ES 8 22857277 22857277 single base substitution G A 5_prime_UTR_variant CLLE-ES 8 22857277 22857277 single base substitution G A downstream_gene_variant CLLE-ES 8 22857277 22857277 single base substitution G A intron_variant CLLE-ES 8 22857277 22857277 single base substitution G A upstream_gene_variant CLLE-ES 8 22861454 22861454 single base substitution G A downstream_gene_variant CLLE-ES 8 22861454 22861454 single base substitution G A intron_variant CLLE-ES 8 22861454 22861454 single base substitution G A upstream_gene_variant CLLE-ES 8 22862173 22862173 single base substitution C T exon_variant CLLE-ES 8 22862173 22862173 single base substitution C T intron_variant CLLE-ES 8 22862173 22862173 single base substitution C T upstream_gene_variant CLLE-ES 8 22872978 22872978 single base substitution A G downstream_gene_variant CLLE-ES 8 22872978 22872978 single base substitution A G intron_variant CLLE-ES 8 22872982 22872982 single base substitution T G downstream_gene_variant CLLE-ES 8 22872982 22872982 single base substitution T G intron_variant COAD-US 8 22864352 22864352 single base substitution C T downstream_gene_variant COAD-US 8 22864352 22864352 single base substitution C T synonymous_variant D198D 594C>T COAD-US 8 22864352 22864352 single base substitution C T synonymous_variant D205D 615C>T COAD-US 8 22864352 22864352 single base substitution C T synonymous_variant D220D 660C>T COAD-US 8 22864352 22864352 single base substitution C T upstream_gene_variant COAD-US 8 22864588 22864588 single base substitution G A downstream_gene_variant COAD-US 8 22864588 22864588 single base substitution G A missense_variant R277H 830G>A COAD-US 8 22864588 22864588 single base substitution G A missense_variant R284H 851G>A COAD-US 8 22864588 22864588 single base substitution G A missense_variant R299H 896G>A COAD-US 8 22864588 22864588 single base substitution G A upstream_gene_variant COAD-US 8 22864596 22864596 insertion of <=200bp - C downstream_gene_variant COAD-US 8 22864596 22864596 insertion of <=200bp - C frameshift_variant A280R? COAD-US 8 22864596 22864596 insertion of <=200bp - C frameshift_variant A287R? COAD-US 8 22864596 22864596 insertion of <=200bp - C frameshift_variant A302R? COAD-US 8 22864596 22864596 insertion of <=200bp - C upstream_gene_variant COCA-CN 8 22852064 22852064 single base substitution T C intron_variant COCA-CN 8 22852064 22852064 single base substitution T C upstream_gene_variant COCA-CN 8 22861902 22861902 single base substitution C T intron_variant COCA-CN 8 22861902 22861902 single base substitution C T upstream_gene_variant COCA-CN 8 22862018 22862018 single base substitution C T exon_variant COCA-CN 8 22862018 22862018 single base substitution C T missense_variant A24V 71C>T COCA-CN 8 22862018 22862018 single base substitution C T missense_variant A31V 92C>T COCA-CN 8 22862018 22862018 single base substitution C T missense_variant A46V 137C>T COCA-CN 8 22862018 22862018 single base substitution C T upstream_gene_variant COCA-CN 8 22864659 22864659 single base substitution A G downstream_gene_variant COCA-CN 8 22864659 22864659 single base substitution A G missense_variant S301G 901A>G COCA-CN 8 22864659 22864659 single base substitution A G missense_variant S308G 922A>G COCA-CN 8 22864659 22864659 single base substitution A G missense_variant S323G 967A>G COCA-CN 8 22864659 22864659 single base substitution A G upstream_gene_variant COCA-CN 8 22865451 22865451 single base substitution G A downstream_gene_variant COCA-CN 8 22865451 22865451 single base substitution G A exon_variant COCA-CN 8 22865451 22865451 single base substitution G A intron_variant COCA-CN 8 22865720 22865720 single base substitution T G downstream_gene_variant COCA-CN 8 22865720 22865720 single base substitution T G intron_variant COCA-CN 8 22873533 22873533 single base substitution G A intron_variant EOPC-DE 8 22857818 22857818 single base substitution G C downstream_gene_variant EOPC-DE 8 22857818 22857818 single base substitution G C intron_variant EOPC-DE 8 22857818 22857818 single base substitution G C upstream_gene_variant ESAD-UK 8 22840523 22840523 single base substitution A T upstream_gene_variant ESAD-UK 8 22842737 22842737 single base substitution C T upstream_gene_variant ESAD-UK 8 22844657 22844657 single base substitution C T upstream_gene_variant ESAD-UK 8 22845364 22845364 single base substitution G C intron_variant ESAD-UK 8 22845364 22845364 single base substitution G C upstream_gene_variant ESAD-UK 8 22849033 22849033 single base substitution T C intron_variant ESAD-UK 8 22849033 22849033 single base substitution T C upstream_gene_variant ESAD-UK 8 22851159 22851159 single base substitution C T intron_variant ESAD-UK 8 22851159 22851159 single base substitution C T upstream_gene_variant ESAD-UK 8 22861777 22861777 single base substitution G T intron_variant ESAD-UK 8 22861777 22861777 single base substitution G T upstream_gene_variant ESAD-UK 8 22863315 22863315 single base substitution A T downstream_gene_variant ESAD-UK 8 22863315 22863315 single base substitution A T intron_variant ESAD-UK 8 22863315 22863315 single base substitution A T upstream_gene_variant ESAD-UK 8 22867624 22867624 single base substitution A G downstream_gene_variant ESAD-UK 8 22867624 22867624 single base substitution A G intron_variant ESAD-UK 8 22867920 22867920 single base substitution G T downstream_gene_variant ESAD-UK 8 22867920 22867920 single base substitution G T intron_variant ESAD-UK 8 22869014 22869014 single base substitution C G downstream_gene_variant ESAD-UK 8 22869014 22869014 single base substitution C G intron_variant ESAD-UK 8 22871828 22871828 single base substitution G C downstream_gene_variant ESAD-UK 8 22871828 22871828 single base substitution G C intron_variant ESAD-UK 8 22872000 22872000 single base substitution A G downstream_gene_variant ESAD-UK 8 22872000 22872000 single base substitution A G intron_variant ESAD-UK 8 22872797 22872797 single base substitution C T downstream_gene_variant ESAD-UK 8 22872797 22872797 single base substitution C T intron_variant ESAD-UK 8 22873914 22873914 single base substitution A T intron_variant ESAD-UK 8 22874126 22874126 single base substitution C T intron_variant ESAD-UK 8 22877920 22877921 deletion of <=200bp AA - downstream_gene_variant ESAD-UK 8 22880323 22880323 single base substitution C T downstream_gene_variant ESCA-CN 8 22861999 22861999 single base substitution G A exon_variant ESCA-CN 8 22861999 22861999 single base substitution G A missense_variant V18I 52G>A ESCA-CN 8 22861999 22861999 single base substitution G A missense_variant V25I 73G>A ESCA-CN 8 22861999 22861999 single base substitution G A missense_variant V40I 118G>A ESCA-CN 8 22861999 22861999 single base substitution G A upstream_gene_variant GBM-US 8 22864290 22864290 single base substitution G A downstream_gene_variant GBM-US 8 22864290 22864290 single base substitution G A missense_variant A178T 532G>A GBM-US 8 22864290 22864290 single base substitution G A missense_variant A185T 553G>A GBM-US 8 22864290 22864290 single base substitution G A missense_variant A200T 598G>A GBM-US 8 22864290 22864290 single base substitution G A upstream_gene_variant LAML-KR 8 22863364 22863364 single base substitution T C downstream_gene_variant LAML-KR 8 22863364 22863364 single base substitution T C intron_variant LAML-KR 8 22863364 22863364 single base substitution T C upstream_gene_variant LAML-KR 8 22880162 22880162 single base substitution G C downstream_gene_variant LIAD-FR 8 22880498 22880498 single base substitution C G downstream_gene_variant LICA-CN 8 22865504 22865504 single base substitution A T downstream_gene_variant LICA-CN 8 22865504 22865504 single base substitution A T exon_variant LICA-CN 8 22865504 22865504 single base substitution A T splice_acceptor_variant LICA-FR 8 22840015 22840015 single base substitution A G upstream_gene_variant LICA-FR 8 22847679 22847679 single base substitution C A intron_variant LICA-FR 8 22847679 22847679 single base substitution C A upstream_gene_variant LICA-FR 8 22852444 22852444 single base substitution A G intron_variant LICA-FR 8 22852444 22852444 single base substitution A G upstream_gene_variant LICA-FR 8 22852446 22852446 single base substitution T G intron_variant LICA-FR 8 22852446 22852446 single base substitution T G upstream_gene_variant LICA-FR 8 22857648 22857648 single base substitution G A downstream_gene_variant LICA-FR 8 22857648 22857648 single base substitution G A intron_variant LICA-FR 8 22857648 22857648 single base substitution G A upstream_gene_variant LICA-FR 8 22862399 22862399 single base substitution T C downstream_gene_variant LICA-FR 8 22862399 22862399 single base substitution T C intron_variant LICA-FR 8 22862399 22862399 single base substitution T C upstream_gene_variant LICA-FR 8 22864475 22864475 single base substitution G A downstream_gene_variant LICA-FR 8 22864475 22864475 single base substitution G A synonymous_variant P239P 717G>A LICA-FR 8 22864475 22864475 single base substitution G A synonymous_variant P246P 738G>A LICA-FR 8 22864475 22864475 single base substitution G A synonymous_variant P261P 783G>A LICA-FR 8 22864475 22864475 single base substitution G A upstream_gene_variant LICA-FR 8 22865139 22865139 single base substitution C T downstream_gene_variant LICA-FR 8 22865139 22865139 single base substitution C T missense_variant R461C 1381C>T LICA-FR 8 22865139 22865139 single base substitution C T missense_variant R468C 1402C>T LICA-FR 8 22865139 22865139 single base substitution C T missense_variant R483C 1447C>T LICA-FR 8 22865139 22865139 single base substitution C T upstream_gene_variant LICA-FR 8 22871818 22871818 single base substitution C G downstream_gene_variant LICA-FR 8 22871818 22871818 single base substitution C G intron_variant LICA-FR 8 22876441 22876449 deletion of <=200bp GAGGAATGT - 3_prime_UTR_variant LICA-FR 8 22876441 22876449 deletion of <=200bp GAGGAATGT - downstream_gene_variant LICA-FR 8 22880326 22880326 single base substitution C A downstream_gene_variant LICA-FR 8 22881269 22881269 deletion of <=200bp T - downstream_gene_variant LIHC-US 8 22874843 22874843 single base substitution G A missense_variant R682Q 2045G>A LIHC-US 8 22874843 22874843 single base substitution G A missense_variant R689Q 2066G>A LIHC-US 8 22874843 22874843 single base substitution G A missense_variant R704Q 2111G>A LINC-JP 8 22873095 22873095 single base substitution T C downstream_gene_variant LINC-JP 8 22873095 22873095 single base substitution T C intron_variant LIRI-JP 8 22841274 22841274 single base substitution G T upstream_gene_variant LIRI-JP 8 22844457 22844457 single base substitution C T upstream_gene_variant LIRI-JP 8 22849922 22849945 deletion of <=200bp GCTTCTCACTCCCAGCTCTGCAGG - intron_variant LIRI-JP 8 22849922 22849945 deletion of <=200bp GCTTCTCACTCCCAGCTCTGCAGG - upstream_gene_variant LIRI-JP 8 22852311 22852311 single base substitution C A intron_variant LIRI-JP 8 22852311 22852311 single base substitution C A upstream_gene_variant LIRI-JP 8 22852463 22852463 single base substitution G T intron_variant LIRI-JP 8 22852463 22852463 single base substitution G T upstream_gene_variant LIRI-JP 8 22853087 22853087 single base substitution C T intron_variant LIRI-JP 8 22853087 22853087 single base substitution C T upstream_gene_variant LIRI-JP 8 22858983 22858983 single base substitution A G downstream_gene_variant LIRI-JP 8 22858983 22858983 single base substitution A G intron_variant LIRI-JP 8 22858983 22858983 single base substitution A G upstream_gene_variant LIRI-JP 8 22859479 22859479 single base substitution T C downstream_gene_variant LIRI-JP 8 22859479 22859479 single base substitution T C intron_variant LIRI-JP 8 22859479 22859479 single base substitution T C upstream_gene_variant LIRI-JP 8 22865803 22865803 single base substitution A G downstream_gene_variant LIRI-JP 8 22865803 22865803 single base substitution A G intron_variant LIRI-JP 8 22865877 22865877 single base substitution C T downstream_gene_variant LIRI-JP 8 22865877 22865877 single base substitution C T intron_variant LIRI-JP 8 22877712 22877712 single base substitution A G 3_prime_UTR_variant LIRI-JP 8 22877712 22877712 single base substitution A G downstream_gene_variant LIRI-JP 8 22880070 22880070 single base substitution C G downstream_gene_variant LIRI-JP 8 22880838 22880838 single base substitution T G downstream_gene_variant LIRI-JP 8 22881731 22881731 single base substitution C T downstream_gene_variant LUSC-KR 8 22843111 22843111 single base substitution T G upstream_gene_variant LUSC-KR 8 22846603 22846603 single base substitution A G intron_variant LUSC-KR 8 22846603 22846603 single base substitution A G upstream_gene_variant LUSC-KR 8 22850048 22850048 single base substitution C G intron_variant LUSC-KR 8 22850048 22850048 single base substitution C G upstream_gene_variant LUSC-KR 8 22856929 22856929 single base substitution C A downstream_gene_variant LUSC-KR 8 22856929 22856929 single base substitution C A intron_variant LUSC-KR 8 22856929 22856929 single base substitution C A upstream_gene_variant LUSC-KR 8 22858294 22858294 single base substitution C T downstream_gene_variant LUSC-KR 8 22858294 22858294 single base substitution C T intron_variant LUSC-KR 8 22858294 22858294 single base substitution C T upstream_gene_variant LUSC-KR 8 22860945 22860945 single base substitution T A downstream_gene_variant LUSC-KR 8 22860945 22860945 single base substitution T A intron_variant LUSC-KR 8 22860945 22860945 single base substitution T A upstream_gene_variant LUSC-KR 8 22866193 22866193 single base substitution G T downstream_gene_variant LUSC-KR 8 22866193 22866193 single base substitution G T intron_variant LUSC-KR 8 22868276 22868276 single base substitution C T downstream_gene_variant LUSC-KR 8 22868276 22868276 single base substitution C T intron_variant LUSC-US 8 22861981 22861981 single base substitution G A exon_variant LUSC-US 8 22861981 22861981 single base substitution G A missense_variant V12I 34G>A LUSC-US 8 22861981 22861981 single base substitution G A missense_variant V19I 55G>A LUSC-US 8 22861981 22861981 single base substitution G A missense_variant V34I 100G>A LUSC-US 8 22861981 22861981 single base substitution G A upstream_gene_variant LUSC-US 8 22862901 22862901 single base substitution G T downstream_gene_variant LUSC-US 8 22862901 22862901 single base substitution G T exon_variant LUSC-US 8 22862901 22862901 single base substitution G T missense_variant R70L 209G>T LUSC-US 8 22862901 22862901 single base substitution G T missense_variant R77L 230G>T LUSC-US 8 22862901 22862901 single base substitution G T missense_variant R92L 275G>T LUSC-US 8 22862901 22862901 single base substitution G T upstream_gene_variant LUSC-US 8 22874894 22874894 single base substitution G A missense_variant R699Q 2096G>A LUSC-US 8 22874894 22874894 single base substitution G A missense_variant R706Q 2117G>A LUSC-US 8 22874894 22874894 single base substitution G A missense_variant R721Q 2162G>A MALY-DE 8 22845004 22845004 single base substitution G A 5_prime_UTR_variant MALY-DE 8 22845004 22845004 single base substitution G A upstream_gene_variant MALY-DE 8 22845840 22845840 insertion of <=200bp - T intron_variant MALY-DE 8 22845840 22845840 insertion of <=200bp - T upstream_gene_variant MALY-DE 8 22855173 22855173 single base substitution G A intron_variant MALY-DE 8 22855173 22855173 single base substitution G A upstream_gene_variant MALY-DE 8 22855408 22855408 single base substitution C T intron_variant MALY-DE 8 22855408 22855408 single base substitution C T upstream_gene_variant MALY-DE 8 22857907 22857907 single base substitution G A downstream_gene_variant MALY-DE 8 22857907 22857907 single base substitution G A intron_variant MALY-DE 8 22857907 22857907 single base substitution G A upstream_gene_variant MALY-DE 8 22860981 22860981 single base substitution G A downstream_gene_variant MALY-DE 8 22860981 22860981 single base substitution G A intron_variant MALY-DE 8 22860981 22860981 single base substitution G A upstream_gene_variant MALY-DE 8 22873913 22873913 single base substitution T A intron_variant MALY-DE 8 22876453 22876453 single base substitution G C 3_prime_UTR_variant MALY-DE 8 22876453 22876453 single base substitution G C downstream_gene_variant MALY-DE 8 22876643 22876646 deletion of <=200bp GAGA - 3_prime_UTR_variant MALY-DE 8 22876643 22876646 deletion of <=200bp GAGA - downstream_gene_variant MALY-DE 8 22877759 22877759 single base substitution G C downstream_gene_variant MELA-AU 8 22840227 22840227 single base substitution G A upstream_gene_variant MELA-AU 8 22840429 22840429 single base substitution G A upstream_gene_variant MELA-AU 8 22841122 22841122 single base substitution G A upstream_gene_variant MELA-AU 8 22841143 22841143 single base substitution G A upstream_gene_variant MELA-AU 8 22841296 22841296 single base substitution G A upstream_gene_variant MELA-AU 8 22841352 22841352 single base substitution A G upstream_gene_variant MELA-AU 8 22841733 22841733 single base substitution G A upstream_gene_variant MELA-AU 8 22842781 22842781 single base substitution G A upstream_gene_variant MELA-AU 8 22842788 22842788 single base substitution G A upstream_gene_variant MELA-AU 8 22842894 22842894 single base substitution C T upstream_gene_variant MELA-AU 8 22842940 22842940 single base substitution G A upstream_gene_variant MELA-AU 8 22843644 22843644 single base substitution A C upstream_gene_variant MELA-AU 8 22844299 22844299 single base substitution C A upstream_gene_variant MELA-AU 8 22844397 22844397 single base substitution G A upstream_gene_variant MELA-AU 8 22845116 22845116 single base substitution G A intron_variant MELA-AU 8 22845116 22845116 single base substitution G A upstream_gene_variant MELA-AU 8 22845398 22845398 single base substitution G A intron_variant MELA-AU 8 22845398 22845398 single base substitution G A upstream_gene_variant MELA-AU 8 22845998 22845998 single base substitution C A intron_variant MELA-AU 8 22845998 22845998 single base substitution C A upstream_gene_variant MELA-AU 8 22846319 22846319 single base substitution G T intron_variant MELA-AU 8 22846319 22846319 single base substitution G T upstream_gene_variant MELA-AU 8 22847488 22847490 multiple base substitution (>=2bp and <=200bp) TCC CTT intron_variant MELA-AU 8 22847488 22847490 multiple base substitution (>=2bp and <=200bp) TCC CTT upstream_gene_variant MELA-AU 8 22848057 22848057 insertion of <=200bp - CCT intron_variant MELA-AU 8 22848057 22848057 insertion of <=200bp - CCT upstream_gene_variant MELA-AU 8 22848062 22848062 single base substitution A T intron_variant MELA-AU 8 22848062 22848062 single base substitution A T upstream_gene_variant MELA-AU 8 22848122 22848122 single base substitution G A intron_variant MELA-AU 8 22848122 22848122 single base substitution G A upstream_gene_variant MELA-AU 8 22848959 22848959 single base substitution G A intron_variant MELA-AU 8 22848959 22848959 single base substitution G A upstream_gene_variant MELA-AU 8 22849143 22849143 single base substitution G A intron_variant MELA-AU 8 22849143 22849143 single base substitution G A upstream_gene_variant MELA-AU 8 22849641 22849641 single base substitution C T 5_prime_UTR_variant MELA-AU 8 22849641 22849641 single base substitution C T exon_variant MELA-AU 8 22849641 22849641 single base substitution C T upstream_gene_variant MELA-AU 8 22849705 22849705 single base substitution G A intron_variant MELA-AU 8 22849705 22849705 single base substitution G A upstream_gene_variant MELA-AU 8 22849727 22849727 single base substitution G A intron_variant MELA-AU 8 22849727 22849727 single base substitution G A upstream_gene_variant MELA-AU 8 22849863 22849863 single base substitution C T intron_variant MELA-AU 8 22849863 22849863 single base substitution C T upstream_gene_variant MELA-AU 8 22850124 22850124 single base substitution G A intron_variant MELA-AU 8 22850124 22850124 single base substitution G A upstream_gene_variant MELA-AU 8 22850384 22850384 single base substitution G A intron_variant MELA-AU 8 22850384 22850384 single base substitution G A upstream_gene_variant MELA-AU 8 22850728 22850728 single base substitution G A intron_variant MELA-AU 8 22850728 22850728 single base substitution G A upstream_gene_variant MELA-AU 8 22850758 22850758 single base substitution G A intron_variant MELA-AU 8 22850758 22850758 single base substitution G A upstream_gene_variant MELA-AU 8 22851072 22851072 single base substitution G A intron_variant MELA-AU 8 22851072 22851072 single base substitution G A upstream_gene_variant MELA-AU 8 22851180 22851180 single base substitution G A intron_variant MELA-AU 8 22851180 22851180 single base substitution G A upstream_gene_variant MELA-AU 8 22851553 22851553 single base substitution C T intron_variant MELA-AU 8 22851553 22851553 single base substitution C T upstream_gene_variant MELA-AU 8 22852124 22852124 single base substitution G A exon_variant MELA-AU 8 22852124 22852124 single base substitution G A missense_variant G10S 28G>A MELA-AU 8 22852124 22852124 single base substitution G A upstream_gene_variant MELA-AU 8 22852585 22852585 single base substitution A T intron_variant MELA-AU 8 22852585 22852585 single base substitution A T upstream_gene_variant MELA-AU 8 22853307 22853307 single base substitution G A intron_variant MELA-AU 8 22853307 22853307 single base substitution G A upstream_gene_variant MELA-AU 8 22854768 22854768 single base substitution G A intron_variant MELA-AU 8 22854768 22854768 single base substitution G A upstream_gene_variant MELA-AU 8 22856041 22856041 single base substitution G A intron_variant MELA-AU 8 22856041 22856041 single base substitution G A upstream_gene_variant MELA-AU 8 22856230 22856230 single base substitution G A intron_variant MELA-AU 8 22856230 22856230 single base substitution G A upstream_gene_variant MELA-AU 8 22856513 22856513 single base substitution C T exon_variant MELA-AU 8 22856513 22856513 single base substitution C T intron_variant MELA-AU 8 22856513 22856513 single base substitution C T upstream_gene_variant MELA-AU 8 22856572 22856572 single base substitution G A exon_variant MELA-AU 8 22856572 22856572 single base substitution G A intron_variant MELA-AU 8 22856572 22856572 single base substitution G A upstream_gene_variant MELA-AU 8 22856818 22856818 single base substitution G A downstream_gene_variant MELA-AU 8 22856818 22856818 single base substitution G A intron_variant MELA-AU 8 22856818 22856818 single base substitution G A upstream_gene_variant MELA-AU 8 22858726 22858726 single base substitution C T downstream_gene_variant MELA-AU 8 22858726 22858726 single base substitution C T intron_variant MELA-AU 8 22858726 22858726 single base substitution C T upstream_gene_variant MELA-AU 8 22859344 22859344 single base substitution G T downstream_gene_variant MELA-AU 8 22859344 22859344 single base substitution G T intron_variant MELA-AU 8 22859344 22859344 single base substitution G T upstream_gene_variant MELA-AU 8 22859589 22859589 single base substitution G C downstream_gene_variant MELA-AU 8 22859589 22859589 single base substitution G C intron_variant MELA-AU 8 22859589 22859589 single base substitution G C upstream_gene_variant MELA-AU 8 22859621 22859621 single base substitution C T downstream_gene_variant MELA-AU 8 22859621 22859621 single base substitution C T intron_variant MELA-AU 8 22859621 22859621 single base substitution C T upstream_gene_variant MELA-AU 8 22860435 22860435 single base substitution C T downstream_gene_variant MELA-AU 8 22860435 22860435 single base substitution C T intron_variant MELA-AU 8 22860435 22860435 single base substitution C T upstream_gene_variant MELA-AU 8 22861025 22861025 single base substitution G T downstream_gene_variant MELA-AU 8 22861025 22861025 single base substitution G T intron_variant MELA-AU 8 22861025 22861025 single base substitution G T upstream_gene_variant MELA-AU 8 22861035 22861036 multiple base substitution (>=2bp and <=200bp) CC TT downstream_gene_variant MELA-AU 8 22861035 22861036 multiple base substitution (>=2bp and <=200bp) CC TT intron_variant MELA-AU 8 22861035 22861036 multiple base substitution (>=2bp and <=200bp) CC TT upstream_gene_variant MELA-AU 8 22861269 22861269 single base substitution G A downstream_gene_variant MELA-AU 8 22861269 22861269 single base substitution G A intron_variant MELA-AU 8 22861269 22861269 single base substitution G A upstream_gene_variant MELA-AU 8 22861475 22861475 single base substitution A T downstream_gene_variant MELA-AU 8 22861475 22861475 single base substitution A T intron_variant MELA-AU 8 22861475 22861475 single base substitution A T upstream_gene_variant MELA-AU 8 22861737 22861737 single base substitution T G intron_variant MELA-AU 8 22861737 22861737 single base substitution T G upstream_gene_variant MELA-AU 8 22863039 22863039 single base substitution C T downstream_gene_variant MELA-AU 8 22863039 22863039 single base substitution C T intron_variant MELA-AU 8 22863039 22863039 single base substitution C T upstream_gene_variant MELA-AU 8 22863201 22863202 multiple base substitution (>=2bp and <=200bp) CC TT downstream_gene_variant MELA-AU 8 22863201 22863202 multiple base substitution (>=2bp and <=200bp) CC TT intron_variant MELA-AU 8 22863201 22863202 multiple base substitution (>=2bp and <=200bp) CC TT upstream_gene_variant MELA-AU 8 22864153 22864153 single base substitution C T downstream_gene_variant MELA-AU 8 22864153 22864153 single base substitution C T intron_variant MELA-AU 8 22864153 22864153 single base substitution C T upstream_gene_variant MELA-AU 8 22864423 22864423 single base substitution G A downstream_gene_variant MELA-AU 8 22864423 22864423 single base substitution G A missense_variant R222H 665G>A MELA-AU 8 22864423 22864423 single base substitution G A missense_variant R229H 686G>A MELA-AU 8 22864423 22864423 single base substitution G A missense_variant R244H 731G>A MELA-AU 8 22864423 22864423 single base substitution G A upstream_gene_variant MELA-AU 8 22865406 22865406 single base substitution C T downstream_gene_variant MELA-AU 8 22865406 22865406 single base substitution C T exon_variant MELA-AU 8 22865406 22865406 single base substitution C T intron_variant MELA-AU 8 22865629 22865629 single base substitution G T downstream_gene_variant MELA-AU 8 22865629 22865629 single base substitution G T intron_variant MELA-AU 8 22865629 22865629 single base substitution G T splice_region_variant MELA-AU 8 22865667 22865667 single base substitution T G downstream_gene_variant MELA-AU 8 22865667 22865667 single base substitution T G intron_variant MELA-AU 8 22866099 22866100 multiple base substitution (>=2bp and <=200bp) CC TT downstream_gene_variant MELA-AU 8 22866099 22866100 multiple base substitution (>=2bp and <=200bp) CC TT intron_variant MELA-AU 8 22866406 22866406 single base substitution G T downstream_gene_variant MELA-AU 8 22866406 22866406 single base substitution G T intron_variant MELA-AU 8 22867949 22867949 single base substitution G A downstream_gene_variant MELA-AU 8 22867949 22867949 single base substitution G A intron_variant MELA-AU 8 22868254 22868255 multiple base substitution (>=2bp and <=200bp) CC TT downstream_gene_variant MELA-AU 8 22868254 22868255 multiple base substitution (>=2bp and <=200bp) CC TT intron_variant MELA-AU 8 22869690 22869690 deletion of <=200bp A - downstream_gene_variant MELA-AU 8 22869690 22869690 deletion of <=200bp A - intron_variant MELA-AU 8 22871967 22871968 multiple base substitution (>=2bp and <=200bp) CT TG downstream_gene_variant MELA-AU 8 22871967 22871968 multiple base substitution (>=2bp and <=200bp) CT TG intron_variant MELA-AU 8 22872039 22872039 single base substitution C T downstream_gene_variant MELA-AU 8 22872039 22872039 single base substitution C T intron_variant MELA-AU 8 22872189 22872189 single base substitution C T downstream_gene_variant MELA-AU 8 22872189 22872189 single base substitution C T intron_variant MELA-AU 8 22873967 22873967 single base substitution C T intron_variant MELA-AU 8 22874343 22874343 single base substitution C T intron_variant MELA-AU 8 22875006 22875006 single base substitution C T 3_prime_UTR_variant MELA-AU 8 22875095 22875095 single base substitution G A 3_prime_UTR_variant MELA-AU 8 22875532 22875532 single base substitution C T 3_prime_UTR_variant MELA-AU 8 22875705 22875705 single base substitution C T 3_prime_UTR_variant MELA-AU 8 22876444 22876444 single base substitution G A 3_prime_UTR_variant MELA-AU 8 22876444 22876444 single base substitution G A downstream_gene_variant MELA-AU 8 22877085 22877085 single base substitution G T 3_prime_UTR_variant MELA-AU 8 22877085 22877085 single base substitution G T downstream_gene_variant MELA-AU 8 22877097 22877097 single base substitution G A 3_prime_UTR_variant MELA-AU 8 22877097 22877097 single base substitution G A downstream_gene_variant MELA-AU 8 22877357 22877357 single base substitution C A 3_prime_UTR_variant MELA-AU 8 22877357 22877357 single base substitution C A downstream_gene_variant MELA-AU 8 22877396 22877396 single base substitution C T 3_prime_UTR_variant MELA-AU 8 22877396 22877396 single base substitution C T downstream_gene_variant MELA-AU 8 22877456 22877456 single base substitution C T 3_prime_UTR_variant MELA-AU 8 22877456 22877456 single base substitution C T downstream_gene_variant MELA-AU 8 22878458 22878458 single base substitution G A downstream_gene_variant MELA-AU 8 22878586 22878586 single base substitution G A downstream_gene_variant MELA-AU 8 22878703 22878703 single base substitution A T downstream_gene_variant MELA-AU 8 22878783 22878783 single base substitution A G downstream_gene_variant MELA-AU 8 22880700 22880700 single base substitution G A downstream_gene_variant MELA-AU 8 22880850 22880850 single base substitution G A downstream_gene_variant MELA-AU 8 22880899 22880899 single base substitution C T downstream_gene_variant MELA-AU 8 22881571 22881571 single base substitution C T downstream_gene_variant MELA-AU 8 22882097 22882097 single base substitution G A downstream_gene_variant MELA-AU 8 22882351 22882351 single base substitution G A downstream_gene_variant MELA-AU 8 22882523 22882523 single base substitution G A downstream_gene_variant ORCA-IN 8 22851925 22851925 single base substitution G C intron_variant ORCA-IN 8 22851925 22851925 single base substitution G C upstream_gene_variant ORCA-IN 8 22864438 22864438 single base substitution C A downstream_gene_variant ORCA-IN 8 22864438 22864438 single base substitution C A missense_variant P227H 680C>A ORCA-IN 8 22864438 22864438 single base substitution C A missense_variant P234H 701C>A ORCA-IN 8 22864438 22864438 single base substitution C A missense_variant P249H 746C>A ORCA-IN 8 22864438 22864438 single base substitution C A upstream_gene_variant ORCA-IN 8 22864913 22864913 single base substitution G A downstream_gene_variant ORCA-IN 8 22864913 22864913 single base substitution G A synonymous_variant V385V 1155G>A ORCA-IN 8 22864913 22864913 single base substitution G A synonymous_variant V392V 1176G>A ORCA-IN 8 22864913 22864913 single base substitution G A synonymous_variant V407V 1221G>A ORCA-IN 8 22864913 22864913 single base substitution G A upstream_gene_variant OV-AU 8 22850462 22850462 single base substitution C G intron_variant OV-AU 8 22850462 22850462 single base substitution C G upstream_gene_variant OV-AU 8 22852613 22852613 single base substitution A G intron_variant OV-AU 8 22852613 22852613 single base substitution A G upstream_gene_variant OV-AU 8 22858523 22858523 single base substitution T G downstream_gene_variant OV-AU 8 22858523 22858523 single base substitution T G intron_variant OV-AU 8 22858523 22858523 single base substitution T G upstream_gene_variant OV-AU 8 22859151 22859151 single base substitution G T downstream_gene_variant OV-AU 8 22859151 22859151 single base substitution G T intron_variant OV-AU 8 22859151 22859151 single base substitution G T upstream_gene_variant OV-AU 8 22863260 22863260 single base substitution C T downstream_gene_variant OV-AU 8 22863260 22863260 single base substitution C T intron_variant OV-AU 8 22863260 22863260 single base substitution C T upstream_gene_variant OV-AU 8 22864076 22864076 single base substitution G T downstream_gene_variant OV-AU 8 22864076 22864076 single base substitution G T intron_variant OV-AU 8 22864076 22864076 single base substitution G T upstream_gene_variant OV-AU 8 22874219 22874219 single base substitution C G intron_variant OV-AU 8 22876296 22876296 single base substitution A C 3_prime_UTR_variant OV-AU 8 22876296 22876296 single base substitution A C downstream_gene_variant PACA-AU 8 22840152 22840152 single base substitution G C upstream_gene_variant PACA-AU 8 22844070 22844070 deletion of <=200bp C - upstream_gene_variant PACA-AU 8 22846417 22846417 single base substitution C G intron_variant PACA-AU 8 22846417 22846417 single base substitution C G upstream_gene_variant PACA-AU 8 22847166 22847166 single base substitution G A intron_variant PACA-AU 8 22847166 22847166 single base substitution G A upstream_gene_variant PACA-AU 8 22859411 22859411 single base substitution T A downstream_gene_variant PACA-AU 8 22859411 22859411 single base substitution T A intron_variant PACA-AU 8 22859411 22859411 single base substitution T A upstream_gene_variant PACA-AU 8 22861517 22861535 deletion of <=200bp GCCGACTCTGCTTCTCTCA - downstream_gene_variant PACA-AU 8 22861517 22861535 deletion of <=200bp GCCGACTCTGCTTCTCTCA - intron_variant PACA-AU 8 22861517 22861535 deletion of <=200bp GCCGACTCTGCTTCTCTCA - upstream_gene_variant PACA-AU 8 22863280 22863280 single base substitution C G downstream_gene_variant PACA-AU 8 22863280 22863280 single base substitution C G intron_variant PACA-AU 8 22863280 22863280 single base substitution C G upstream_gene_variant PACA-AU 8 22866685 22866685 single base substitution G A downstream_gene_variant PACA-AU 8 22866685 22866685 single base substitution G A intron_variant PACA-AU 8 22878354 22878354 single base substitution G T downstream_gene_variant PACA-AU 8 22879147 22879147 single base substitution A T downstream_gene_variant PACA-AU 8 22880343 22880343 single base substitution C G downstream_gene_variant PACA-AU 8 22880480 22880480 single base substitution C A downstream_gene_variant PACA-AU 8 22882573 22882573 single base substitution G A downstream_gene_variant PACA-CA 8 22845581 22845581 single base substitution G A intron_variant PACA-CA 8 22845581 22845581 single base substitution G A upstream_gene_variant PACA-CA 8 22846663 22846663 single base substitution C T intron_variant PACA-CA 8 22846663 22846663 single base substitution C T upstream_gene_variant PACA-CA 8 22847913 22847913 single base substitution A G intron_variant PACA-CA 8 22847913 22847913 single base substitution A G upstream_gene_variant PACA-CA 8 22849121 22849121 single base substitution C T intron_variant PACA-CA 8 22849121 22849121 single base substitution C T upstream_gene_variant PACA-CA 8 22852340 22852340 single base substitution G A intron_variant PACA-CA 8 22852340 22852340 single base substitution G A upstream_gene_variant PACA-CA 8 22854539 22854539 single base substitution C T intron_variant PACA-CA 8 22854539 22854539 single base substitution C T upstream_gene_variant PACA-CA 8 22854702 22854702 single base substitution G A intron_variant PACA-CA 8 22854702 22854702 single base substitution G A upstream_gene_variant PACA-CA 8 22856901 22856901 single base substitution C T downstream_gene_variant PACA-CA 8 22856901 22856901 single base substitution C T intron_variant PACA-CA 8 22856901 22856901 single base substitution C T upstream_gene_variant PACA-CA 8 22856979 22856979 deletion of <=200bp G - downstream_gene_variant PACA-CA 8 22856979 22856979 deletion of <=200bp G - intron_variant PACA-CA 8 22856979 22856979 deletion of <=200bp G - upstream_gene_variant PACA-CA 8 22860500 22860500 single base substitution G A downstream_gene_variant PACA-CA 8 22860500 22860500 single base substitution G A intron_variant PACA-CA 8 22860500 22860500 single base substitution G A upstream_gene_variant PACA-CA 8 22862909 22862909 single base substitution G A downstream_gene_variant PACA-CA 8 22862909 22862909 single base substitution G A exon_variant PACA-CA 8 22862909 22862909 single base substitution G A missense_variant V73I 217G>A PACA-CA 8 22862909 22862909 single base substitution G A missense_variant V80I 238G>A PACA-CA 8 22862909 22862909 single base substitution G A missense_variant V95I 283G>A PACA-CA 8 22862909 22862909 single base substitution G A upstream_gene_variant PACA-CA 8 22863123 22863123 deletion of <=200bp G - downstream_gene_variant PACA-CA 8 22863123 22863123 deletion of <=200bp G - intron_variant PACA-CA 8 22863123 22863123 deletion of <=200bp G - upstream_gene_variant PACA-CA 8 22864364 22864364 single base substitution C T downstream_gene_variant PACA-CA 8 22864364 22864364 single base substitution C T synonymous_variant N202N 606C>T PACA-CA 8 22864364 22864364 single base substitution C T synonymous_variant N209N 627C>T PACA-CA 8 22864364 22864364 single base substitution C T synonymous_variant N224N 672C>T PACA-CA 8 22864364 22864364 single base substitution C T upstream_gene_variant PACA-CA 8 22875584 22875601 deletion of <=200bp GTCCCTCCGTCCCAGGGG - 3_prime_UTR_variant PACA-CA 8 22878065 22878065 single base substitution C T downstream_gene_variant PACA-CA 8 22881103 22881103 single base substitution G A downstream_gene_variant PACA-CA 8 22881727 22881734 deletion of <=200bp GGAACCAG - downstream_gene_variant PAEN-AU 8 22840845 22840845 single base substitution T G upstream_gene_variant PBCA-DE 8 22841639 22841639 insertion of <=200bp - A upstream_gene_variant PBCA-DE 8 22851921 22851921 single base substitution C T intron_variant PBCA-DE 8 22851921 22851921 single base substitution C T upstream_gene_variant PBCA-DE 8 22852617 22852617 single base substitution A T intron_variant PBCA-DE 8 22852617 22852617 single base substitution A T upstream_gene_variant PBCA-DE 8 22859841 22859841 deletion of <=200bp G - downstream_gene_variant PBCA-DE 8 22859841 22859841 deletion of <=200bp G - intron_variant PBCA-DE 8 22859841 22859841 deletion of <=200bp G - upstream_gene_variant PBCA-DE 8 22861552 22861552 single base substitution C T downstream_gene_variant PBCA-DE 8 22861552 22861552 single base substitution C T intron_variant PBCA-DE 8 22861552 22861552 single base substitution C T upstream_gene_variant PBCA-DE 8 22874781 22874781 single base substitution C A missense_variant F661L 1983C>A PBCA-DE 8 22874781 22874781 single base substitution C A missense_variant F668L 2004C>A PBCA-DE 8 22874781 22874781 single base substitution C A missense_variant F683L 2049C>A PBCA-DE 8 22880190 22880190 single base substitution C A downstream_gene_variant PRAD-UK 8 22845839 22845839 single base substitution A T intron_variant PRAD-UK 8 22845839 22845839 single base substitution A T upstream_gene_variant PRAD-UK 8 22853395 22853395 single base substitution G A intron_variant PRAD-UK 8 22853395 22853395 single base substitution G A missense_variant R4Q 11G>A PRAD-UK 8 22853395 22853395 single base substitution G A upstream_gene_variant PRAD-UK 8 22861074 22861074 single base substitution C A downstream_gene_variant PRAD-UK 8 22861074 22861074 single base substitution C A intron_variant PRAD-UK 8 22861074 22861074 single base substitution C A upstream_gene_variant PRAD-US 8 22862016 22862016 single base substitution C T exon_variant PRAD-US 8 22862016 22862016 single base substitution C T synonymous_variant N23N 69C>T PRAD-US 8 22862016 22862016 single base substitution C T synonymous_variant N30N 90C>T PRAD-US 8 22862016 22862016 single base substitution C T synonymous_variant N45N 135C>T PRAD-US 8 22862016 22862016 single base substitution C T upstream_gene_variant PRAD-US 8 22880193 22880193 single base substitution G T downstream_gene_variant READ-US 8 22862116 22862116 single base substitution G A exon_variant READ-US 8 22862116 22862116 single base substitution G A missense_variant D57N 169G>A READ-US 8 22862116 22862116 single base substitution G A missense_variant D64N 190G>A READ-US 8 22862116 22862116 single base substitution G A missense_variant D79N 235G>A READ-US 8 22862116 22862116 single base substitution G A upstream_gene_variant READ-US 8 22865540 22865540 single base substitution C T downstream_gene_variant READ-US 8 22865540 22865540 single base substitution C T exon_variant READ-US 8 22865540 22865540 single base substitution C T synonymous_variant S512S 1536C>T READ-US 8 22865540 22865540 single base substitution C T synonymous_variant S519S 1557C>T READ-US 8 22865540 22865540 single base substitution C T synonymous_variant S534S 1602C>T RECA-EU 8 22873252 22873252 single base substitution C A synonymous_variant S654S 1962C>A RECA-EU 8 22873252 22873252 single base substitution C A synonymous_variant S661S 1983C>A RECA-EU 8 22873252 22873252 single base substitution C A synonymous_variant S676S 2028C>A RECA-EU 8 22876254 22876254 single base substitution G A 3_prime_UTR_variant RECA-EU 8 22876254 22876254 single base substitution G A downstream_gene_variant RECA-EU 8 22880679 22880679 single base substitution C A downstream_gene_variant SKCA-BR 8 22840976 22840976 single base substitution C G upstream_gene_variant SKCA-BR 8 22840979 22840979 single base substitution C A upstream_gene_variant SKCA-BR 8 22843321 22843321 single base substitution C G upstream_gene_variant SKCA-BR 8 22843778 22843779 deletion of <=200bp CT - upstream_gene_variant SKCA-BR 8 22845666 22845667 deletion of <=200bp CT - intron_variant SKCA-BR 8 22845666 22845667 deletion of <=200bp CT - upstream_gene_variant SKCA-BR 8 22847851 22847851 single base substitution A C intron_variant SKCA-BR 8 22847851 22847851 single base substitution A C upstream_gene_variant SKCA-BR 8 22848261 22848261 single base substitution T G intron_variant SKCA-BR 8 22848261 22848261 single base substitution T G upstream_gene_variant SKCA-BR 8 22849018 22849018 single base substitution G A intron_variant SKCA-BR 8 22849018 22849018 single base substitution G A upstream_gene_variant SKCA-BR 8 22849887 22849887 single base substitution A G intron_variant SKCA-BR 8 22849887 22849887 single base substitution A G upstream_gene_variant SKCA-BR 8 22850405 22850405 single base substitution A G intron_variant SKCA-BR 8 22850405 22850405 single base substitution A G upstream_gene_variant SKCA-BR 8 22857000 22857000 single base substitution C T downstream_gene_variant SKCA-BR 8 22857000 22857000 single base substitution C T intron_variant SKCA-BR 8 22857000 22857000 single base substitution C T upstream_gene_variant SKCA-BR 8 22857001 22857001 single base substitution C T downstream_gene_variant SKCA-BR 8 22857001 22857001 single base substitution C T intron_variant SKCA-BR 8 22857001 22857001 single base substitution C T upstream_gene_variant SKCA-BR 8 22857285 22857285 single base substitution T C 5_prime_UTR_variant SKCA-BR 8 22857285 22857285 single base substitution T C downstream_gene_variant SKCA-BR 8 22857285 22857285 single base substitution T C intron_variant SKCA-BR 8 22857285 22857285 single base substitution T C upstream_gene_variant SKCA-BR 8 22861814 22861814 single base substitution C T intron_variant SKCA-BR 8 22861814 22861814 single base substitution C T upstream_gene_variant SKCA-BR 8 22868929 22868929 single base substitution C T downstream_gene_variant SKCA-BR 8 22868929 22868929 single base substitution C T intron_variant SKCA-BR 8 22873004 22873004 single base substitution G A downstream_gene_variant SKCA-BR 8 22873004 22873004 single base substitution G A intron_variant SKCA-BR 8 22873368 22873368 single base substitution T G intron_variant SKCA-BR 8 22873776 22873776 single base substitution A G intron_variant SKCA-BR 8 22874310 22874310 single base substitution C A intron_variant SKCA-BR 8 22877614 22877614 single base substitution G A 3_prime_UTR_variant SKCA-BR 8 22877614 22877614 single base substitution G A downstream_gene_variant SKCA-BR 8 22877697 22877697 single base substitution A T 3_prime_UTR_variant SKCA-BR 8 22877697 22877697 single base substitution A T downstream_gene_variant SKCM-US 8 22862018 22862018 single base substitution C T exon_variant SKCM-US 8 22862018 22862018 single base substitution C T missense_variant A24V 71C>T SKCM-US 8 22862018 22862018 single base substitution C T missense_variant A31V 92C>T SKCM-US 8 22862018 22862018 single base substitution C T missense_variant A46V 137C>T SKCM-US 8 22862018 22862018 single base substitution C T upstream_gene_variant SKCM-US 8 22864244 22864244 single base substitution C T downstream_gene_variant SKCM-US 8 22864244 22864244 single base substitution C T synonymous_variant P162P 486C>T SKCM-US 8 22864244 22864244 single base substitution C T synonymous_variant P169P 507C>T SKCM-US 8 22864244 22864244 single base substitution C T synonymous_variant P184P 552C>T SKCM-US 8 22864244 22864244 single base substitution C T upstream_gene_variant SKCM-US 8 22864281 22864281 single base substitution C T downstream_gene_variant SKCM-US 8 22864281 22864281 single base substitution C T missense_variant R175W 523C>T SKCM-US 8 22864281 22864281 single base substitution C T missense_variant R182W 544C>T SKCM-US 8 22864281 22864281 single base substitution C T missense_variant R197W 589C>T SKCM-US 8 22864281 22864281 single base substitution C T upstream_gene_variant SKCM-US 8 22864607 22864607 single base substitution C T downstream_gene_variant SKCM-US 8 22864607 22864607 single base substitution C T synonymous_variant I283I 849C>T SKCM-US 8 22864607 22864607 single base substitution C T synonymous_variant I290I 870C>T SKCM-US 8 22864607 22864607 single base substitution C T synonymous_variant I305I 915C>T SKCM-US 8 22864607 22864607 single base substitution C T upstream_gene_variant SKCM-US 8 22864685 22864685 single base substitution G A downstream_gene_variant SKCM-US 8 22864685 22864685 single base substitution G A synonymous_variant S309S 927G>A SKCM-US 8 22864685 22864685 single base substitution G A synonymous_variant S316S 948G>A SKCM-US 8 22864685 22864685 single base substitution G A synonymous_variant S331S 993G>A SKCM-US 8 22864685 22864685 single base substitution G A upstream_gene_variant SKCM-US 8 22864765 22864765 single base substitution G A downstream_gene_variant SKCM-US 8 22864765 22864765 single base substitution G A missense_variant R336Q 1007G>A SKCM-US 8 22864765 22864765 single base substitution G A missense_variant R343Q 1028G>A SKCM-US 8 22864765 22864765 single base substitution G A missense_variant R358Q 1073G>A SKCM-US 8 22864765 22864765 single base substitution G A upstream_gene_variant SKCM-US 8 22864826 22864826 single base substitution C T downstream_gene_variant SKCM-US 8 22864826 22864826 single base substitution C T synonymous_variant G356G 1068C>T SKCM-US 8 22864826 22864826 single base substitution C T synonymous_variant G363G 1089C>T SKCM-US 8 22864826 22864826 single base substitution C T synonymous_variant G378G 1134C>T SKCM-US 8 22864826 22864826 single base substitution C T upstream_gene_variant SKCM-US 8 22865629 22865629 single base substitution G T downstream_gene_variant SKCM-US 8 22865629 22865629 single base substitution G T intron_variant SKCM-US 8 22865629 22865629 single base substitution G T splice_region_variant STAD-US 8 22862133 22862133 single base substitution C T exon_variant STAD-US 8 22862133 22862133 single base substitution C T synonymous_variant C62C 186C>T STAD-US 8 22862133 22862133 single base substitution C T synonymous_variant C69C 207C>T STAD-US 8 22862133 22862133 single base substitution C T synonymous_variant C84C 252C>T STAD-US 8 22862133 22862133 single base substitution C T upstream_gene_variant STAD-US 8 22862901 22862901 single base substitution G A downstream_gene_variant STAD-US 8 22862901 22862901 single base substitution G A exon_variant STAD-US 8 22862901 22862901 single base substitution G A missense_variant R70Q 209G>A STAD-US 8 22862901 22862901 single base substitution G A missense_variant R77Q 230G>A STAD-US 8 22862901 22862901 single base substitution G A missense_variant R92Q 275G>A STAD-US 8 22862901 22862901 single base substitution G A upstream_gene_variant STAD-US 8 22863501 22863501 single base substitution A G downstream_gene_variant STAD-US 8 22863501 22863501 single base substitution A G exon_variant STAD-US 8 22863501 22863501 single base substitution A G missense_variant I109V 325A>G STAD-US 8 22863501 22863501 single base substitution A G missense_variant I116V 346A>G STAD-US 8 22863501 22863501 single base substitution A G missense_variant I131V 391A>G STAD-US 8 22863501 22863501 single base substitution A G upstream_gene_variant STAD-US 8 22864426 22864426 single base substitution A G downstream_gene_variant STAD-US 8 22864426 22864426 single base substitution A G missense_variant N223S 668A>G STAD-US 8 22864426 22864426 single base substitution A G missense_variant N230S 689A>G STAD-US 8 22864426 22864426 single base substitution A G missense_variant N245S 734A>G STAD-US 8 22864426 22864426 single base substitution A G upstream_gene_variant STAD-US 8 22864481 22864481 single base substitution G A downstream_gene_variant STAD-US 8 22864481 22864481 single base substitution G A synonymous_variant P241P 723G>A STAD-US 8 22864481 22864481 single base substitution G A synonymous_variant P248P 744G>A STAD-US 8 22864481 22864481 single base substitution G A synonymous_variant P263P 789G>A STAD-US 8 22864481 22864481 single base substitution G A upstream_gene_variant STAD-US 8 22864590 22864590 single base substitution A G downstream_gene_variant STAD-US 8 22864590 22864590 single base substitution A G missense_variant I278V 832A>G STAD-US 8 22864590 22864590 single base substitution A G missense_variant I285V 853A>G STAD-US 8 22864590 22864590 single base substitution A G missense_variant I300V 898A>G STAD-US 8 22864590 22864590 single base substitution A G upstream_gene_variant STAD-US 8 22864617 22864617 single base substitution A G downstream_gene_variant STAD-US 8 22864617 22864617 single base substitution A G missense_variant T287A 859A>G STAD-US 8 22864617 22864617 single base substitution A G missense_variant T294A 880A>G STAD-US 8 22864617 22864617 single base substitution A G missense_variant T309A 925A>G STAD-US 8 22864617 22864617 single base substitution A G upstream_gene_variant STAD-US 8 22864673 22864673 deletion of <=200bp G - downstream_gene_variant STAD-US 8 22864673 22864673 deletion of <=200bp G - frameshift_variant L305 STAD-US 8 22864673 22864673 deletion of <=200bp G - frameshift_variant L312 STAD-US 8 22864673 22864673 deletion of <=200bp G - frameshift_variant L327 STAD-US 8 22864673 22864673 deletion of <=200bp G - upstream_gene_variant STAD-US 8 22864673 22864673 insertion of <=200bp - G downstream_gene_variant STAD-US 8 22864673 22864673 insertion of <=200bp - G frameshift_variant L305L? STAD-US 8 22864673 22864673 insertion of <=200bp - G frameshift_variant L312L? STAD-US 8 22864673 22864673 insertion of <=200bp - G frameshift_variant L327L? STAD-US 8 22864673 22864673 insertion of <=200bp - G upstream_gene_variant STAD-US 8 22864803 22864803 single base substitution G A downstream_gene_variant STAD-US 8 22864803 22864803 single base substitution G A missense_variant E349K 1045G>A STAD-US 8 22864803 22864803 single base substitution G A missense_variant E356K 1066G>A STAD-US 8 22864803 22864803 single base substitution G A missense_variant E371K 1111G>A STAD-US 8 22864803 22864803 single base substitution G A upstream_gene_variant STAD-US 8 22864808 22864808 single base substitution C T downstream_gene_variant STAD-US 8 22864808 22864808 single base substitution C T synonymous_variant S350S 1050C>T STAD-US 8 22864808 22864808 single base substitution C T synonymous_variant S357S 1071C>T STAD-US 8 22864808 22864808 single base substitution C T synonymous_variant S372S 1116C>T STAD-US 8 22864808 22864808 single base substitution C T upstream_gene_variant STAD-US 8 22864845 22864845 single base substitution C T downstream_gene_variant STAD-US 8 22864845 22864845 single base substitution C T missense_variant R363C 1087C>T STAD-US 8 22864845 22864845 single base substitution C T missense_variant R370C 1108C>T STAD-US 8 22864845 22864845 single base substitution C T missense_variant R385C 1153C>T STAD-US 8 22864845 22864845 single base substitution C T upstream_gene_variant STAD-US 8 22864862 22864862 single base substitution C T downstream_gene_variant STAD-US 8 22864862 22864862 single base substitution C T synonymous_variant D368D 1104C>T STAD-US 8 22864862 22864862 single base substitution C T synonymous_variant D375D 1125C>T STAD-US 8 22864862 22864862 single base substitution C T synonymous_variant D390D 1170C>T STAD-US 8 22864862 22864862 single base substitution C T upstream_gene_variant STAD-US 8 22864897 22864897 single base substitution C T downstream_gene_variant STAD-US 8 22864897 22864897 single base substitution C T missense_variant P380L 1139C>T STAD-US 8 22864897 22864897 single base substitution C T missense_variant P387L 1160C>T STAD-US 8 22864897 22864897 single base substitution C T missense_variant P402L 1205C>T STAD-US 8 22864897 22864897 single base substitution C T upstream_gene_variant STAD-US 8 22865085 22865085 single base substitution C T downstream_gene_variant STAD-US 8 22865085 22865085 single base substitution C T missense_variant R443C 1327C>T STAD-US 8 22865085 22865085 single base substitution C T missense_variant R450C 1348C>T STAD-US 8 22865085 22865085 single base substitution C T missense_variant R465C 1393C>T STAD-US 8 22865085 22865085 single base substitution C T upstream_gene_variant STAD-US 8 22865592 22865592 deletion of <=200bp G - downstream_gene_variant STAD-US 8 22865592 22865592 deletion of <=200bp G - exon_variant STAD-US 8 22865592 22865592 deletion of <=200bp G - frameshift_variant G530 STAD-US 8 22865592 22865592 deletion of <=200bp G - frameshift_variant G537 STAD-US 8 22865592 22865592 deletion of <=200bp G - frameshift_variant G552 STAD-US 8 22865598 22865598 single base substitution C G downstream_gene_variant STAD-US 8 22865598 22865598 single base substitution C G exon_variant STAD-US 8 22865598 22865598 single base substitution C G missense_variant P532A 1594C>G STAD-US 8 22865598 22865598 single base substitution C G missense_variant P539A 1615C>G STAD-US 8 22865598 22865598 single base substitution C G missense_variant P554A 1660C>G STAD-US 8 22868070 22868070 single base substitution G A downstream_gene_variant STAD-US 8 22868070 22868070 single base substitution G A exon_variant STAD-US 8 22868070 22868070 single base substitution G A missense_variant S547N 1640G>A STAD-US 8 22868070 22868070 single base substitution G A missense_variant S554N 1661G>A STAD-US 8 22868070 22868070 single base substitution G A missense_variant S569N 1706G>A STAD-US 8 22868168 22868168 single base substitution C T downstream_gene_variant STAD-US 8 22868168 22868168 single base substitution C T missense_variant R580C 1738C>T STAD-US 8 22868168 22868168 single base substitution C T missense_variant R587C 1759C>T STAD-US 8 22868168 22868168 single base substitution C T missense_variant R602C 1804C>T STAD-US 8 22874858 22874860 deletion of <=200bp AGG - inframe_deletion KE687K STAD-US 8 22874858 22874860 deletion of <=200bp AGG - inframe_deletion KE694K STAD-US 8 22874858 22874860 deletion of <=200bp AGG - inframe_deletion KE709K STAD-US 8 22874894 22874894 single base substitution G A missense_variant R699Q 2096G>A STAD-US 8 22874894 22874894 single base substitution G A missense_variant R706Q 2117G>A STAD-US 8 22874894 22874894 single base substitution G A missense_variant R721Q 2162G>A STAD-US 8 22874896 22874896 single base substitution C T missense_variant R700C 2098C>T STAD-US 8 22874896 22874896 single base substitution C T missense_variant R707C 2119C>T STAD-US 8 22874896 22874896 single base substitution C T missense_variant R722C 2164C>T STAD-US 8 22881771 22881771 single base substitution T A downstream_gene_variant THCA-SA 8 22844981 22844981 single base substitution C T 5_prime_UTR_variant THCA-SA 8 22844981 22844981 single base substitution C T upstream_gene_variant THCA-SA 8 22876739 22876739 single base substitution C T 3_prime_UTR_variant THCA-SA 8 22876739 22876739 single base substitution C T downstream_gene_variant UCEC-US 8 22861962 22861962 single base substitution G A exon_variant UCEC-US 8 22861962 22861962 single base substitution G A missense_variant M12I 36G>A UCEC-US 8 22861962 22861962 single base substitution G A missense_variant M27I 81G>A UCEC-US 8 22861962 22861962 single base substitution G A missense_variant M5I 15G>A UCEC-US 8 22861962 22861962 single base substitution G A upstream_gene_variant UCEC-US 8 22862016 22862016 single base substitution C T exon_variant UCEC-US 8 22862016 22862016 single base substitution C T synonymous_variant N23N 69C>T UCEC-US 8 22862016 22862016 single base substitution C T synonymous_variant N30N 90C>T UCEC-US 8 22862016 22862016 single base substitution C T synonymous_variant N45N 135C>T UCEC-US 8 22862016 22862016 single base substitution C T upstream_gene_variant UCEC-US 8 22862040 22862040 single base substitution C A exon_variant UCEC-US 8 22862040 22862040 single base substitution C A synonymous_variant I31I 93C>A UCEC-US 8 22862040 22862040 single base substitution C A synonymous_variant I38I 114C>A UCEC-US 8 22862040 22862040 single base substitution C A synonymous_variant I53I 159C>A UCEC-US 8 22862040 22862040 single base substitution C A upstream_gene_variant UCEC-US 8 22862969 22862969 single base substitution C T downstream_gene_variant UCEC-US 8 22862969 22862969 single base substitution C T exon_variant UCEC-US 8 22862969 22862969 single base substitution C T missense_variant R100C 298C>T UCEC-US 8 22862969 22862969 single base substitution C T missense_variant R115C 343C>T UCEC-US 8 22862969 22862969 single base substitution C T missense_variant R93C 277C>T UCEC-US 8 22862969 22862969 single base substitution C T upstream_gene_variant UCEC-US 8 22863573 22863573 single base substitution G T downstream_gene_variant UCEC-US 8 22863573 22863573 single base substitution G T exon_variant UCEC-US 8 22863573 22863573 single base substitution G T missense_variant A133S 397G>T UCEC-US 8 22863573 22863573 single base substitution G T missense_variant A140S 418G>T UCEC-US 8 22863573 22863573 single base substitution G T missense_variant A155S 463G>T UCEC-US 8 22863573 22863573 single base substitution G T upstream_gene_variant UCEC-US 8 22863610 22863610 single base substitution G A downstream_gene_variant UCEC-US 8 22863610 22863610 single base substitution G A exon_variant UCEC-US 8 22863610 22863610 single base substitution G A missense_variant R145H 434G>A UCEC-US 8 22863610 22863610 single base substitution G A missense_variant R152H 455G>A UCEC-US 8 22863610 22863610 single base substitution G A missense_variant R167H 500G>A UCEC-US 8 22863610 22863610 single base substitution G A upstream_gene_variant UCEC-US 8 22864390 22864390 single base substitution G A downstream_gene_variant UCEC-US 8 22864390 22864390 single base substitution G A missense_variant R211H 632G>A UCEC-US 8 22864390 22864390 single base substitution G A missense_variant R218H 653G>A UCEC-US 8 22864390 22864390 single base substitution G A missense_variant R233H 698G>A UCEC-US 8 22864390 22864390 single base substitution G A upstream_gene_variant UCEC-US 8 22864603 22864603 single base substitution A C downstream_gene_variant UCEC-US 8 22864603 22864603 single base substitution A C missense_variant K282T 845A>C UCEC-US 8 22864603 22864603 single base substitution A C missense_variant K289T 866A>C UCEC-US 8 22864603 22864603 single base substitution A C missense_variant K304T 911A>C UCEC-US 8 22864603 22864603 single base substitution A C upstream_gene_variant UCEC-US 8 22864657 22864657 single base substitution T C downstream_gene_variant UCEC-US 8 22864657 22864657 single base substitution T C missense_variant L300P 899T>C UCEC-US 8 22864657 22864657 single base substitution T C missense_variant L307P 920T>C UCEC-US 8 22864657 22864657 single base substitution T C missense_variant L322P 965T>C UCEC-US 8 22864657 22864657 single base substitution T C upstream_gene_variant UCEC-US 8 22864872 22864872 single base substitution C T downstream_gene_variant UCEC-US 8 22864872 22864872 single base substitution C T missense_variant R372W 1114C>T UCEC-US 8 22864872 22864872 single base substitution C T missense_variant R379W 1135C>T UCEC-US 8 22864872 22864872 single base substitution C T missense_variant R394W 1180C>T UCEC-US 8 22864872 22864872 single base substitution C T upstream_gene_variant UCEC-US 8 22864912 22864912 single base substitution T C downstream_gene_variant UCEC-US 8 22864912 22864912 single base substitution T C missense_variant V385A 1154T>C UCEC-US 8 22864912 22864912 single base substitution T C missense_variant V392A 1175T>C UCEC-US 8 22864912 22864912 single base substitution T C missense_variant V407A 1220T>C UCEC-US 8 22864912 22864912 single base substitution T C upstream_gene_variant UCEC-US 8 22864942 22864942 single base substitution G A downstream_gene_variant UCEC-US 8 22864942 22864942 single base substitution G A missense_variant S395N 1184G>A UCEC-US 8 22864942 22864942 single base substitution G A missense_variant S402N 1205G>A UCEC-US 8 22864942 22864942 single base substitution G A missense_variant S417N 1250G>A UCEC-US 8 22864942 22864942 single base substitution G A upstream_gene_variant UCEC-US 8 22865139 22865139 single base substitution C T downstream_gene_variant UCEC-US 8 22865139 22865139 single base substitution C T missense_variant R461C 1381C>T UCEC-US 8 22865139 22865139 single base substitution C T missense_variant R468C 1402C>T UCEC-US 8 22865139 22865139 single base substitution C T missense_variant R483C 1447C>T UCEC-US 8 22865139 22865139 single base substitution C T upstream_gene_variant UCEC-US 8 22865171 22865171 single base substitution G T downstream_gene_variant UCEC-US 8 22865171 22865171 single base substitution G T missense_variant E471D 1413G>T UCEC-US 8 22865171 22865171 single base substitution G T missense_variant E478D 1434G>T UCEC-US 8 22865171 22865171 single base substitution G T missense_variant E493D 1479G>T UCEC-US 8 22865171 22865171 single base substitution G T upstream_gene_variant UCEC-US 8 22865224 22865224 single base substitution G A downstream_gene_variant UCEC-US 8 22865224 22865224 single base substitution G A missense_variant R489Q 1466G>A UCEC-US 8 22865224 22865224 single base substitution G A missense_variant R496Q 1487G>A UCEC-US 8 22865224 22865224 single base substitution G A missense_variant R511Q 1532G>A UCEC-US 8 22865224 22865224 single base substitution G A upstream_gene_variant UCEC-US 8 22865436 22865436 single base substitution C T downstream_gene_variant UCEC-US 8 22865436 22865436 single base substitution C T exon_variant UCEC-US 8 22865436 22865436 single base substitution C T intron_variant UCEC-US 8 22873176 22873176 single base substitution A G missense_variant D629G 1886A>G UCEC-US 8 22873176 22873176 single base substitution A G missense_variant D636G 1907A>G UCEC-US 8 22873176 22873176 single base substitution A G missense_variant D651G 1952A>G UCEC-US 8 22874851 22874851 single base substitution C T missense_variant R685C 2053C>T UCEC-US 8 22874851 22874851 single base substitution C T missense_variant R692C 2074C>T UCEC-US 8 22874851 22874851 single base substitution C T missense_variant R707C 2119C>T UCEC-US 8 22879978 22879978 single base substitution T C downstream_gene_variant UCEC-US 8 22880327 22880327 single base substitution C T downstream_gene_variant

Mutation - COSMIC Sample Name Mutation ID Mutation CDS Mutation AA Mutation Description Mutation Genome Position Mutation Strand PCSI_0083_Pa_P_526 COSM3382190 c.606C>T p.N202N Substitution - coding silent 8:23006851-23006851 + TCGA-51-4081-01 COSM750059 c.34G>A p.V12I Substitution - Missense 8:23004468-23004468 + PT50 COSM5937356 c.341C>T p.S114F Substitution - Missense 8:23006004-23006004 + PT52 COSM5939857 c.323C>T p.S108F Substitution - Missense 8:23005986-23005986 + TCGA-DA-A3F5-06 COSM3647318 c.486C>T p.P162P Substitution - coding silent 8:23006731-23006731 + TCGA-BR-6452-01 COSM3898991 c.832A>G p.I278V Substitution - Missense 8:23007077-23007077 + TCGA-EE-A3JI-06 COSM3647320 c.849C>T p.I283I Substitution - coding silent 8:23007094-23007094 + TCGA-BR-4368-01 COSM3898997 c.1594C>G p.P532A Substitution - Missense 8:23008085-23008085 + SNU-C2B COSM2786455 c.537G>A p.K179K Substitution - coding silent 8:23006782-23006782 + TCGA-AP-A054-01 COSM1098185 c.1381C>T p.R461C Substitution - Missense 8:23007626-23007626 + TCGA-D8-A1JL-01 COSM1489187 c.213C>T p.D71D Substitution - coding silent 8:23005392-23005392 + TCGA-AP-A05N-01 COSM1098173 c.830G>A p.R277H Substitution - Missense 8:23007075-23007075 + TCGA-BR-4368-01 COSM3898986 c.186C>T p.C62C Substitution - coding silent 8:23004620-23004620 + C0009T COSM4422575 c.1962C>A p.S654S Substitution - coding silent 8:23015739-23015739 + PCSI_0083_Pa_P COSM3382190 c.606C>T p.N202N Substitution - coding silent 8:23006851-23006851 + TCGA-BR-6452-01 COSM3898993 c.1050C>T p.S350S Substitution - coding silent 8:23007295-23007295 + 587224 COSM1223705 c.278G>A p.R93H Substitution - Missense 8:23005457-23005457 + Gp2D COSM4628742 c.996C>T p.H332H Substitution - coding silent 8:23007241-23007241 + CRC-32T COSM5460711 c.901A>G p.S301G Substitution - Missense 8:23007146-23007146 + pfg143T COSM4751177 c.1780A>G p.T594A Substitution - Missense 8:23014698-23014698 + T2197 COSM4721574 c.703delC p.K237fs*64 Deletion - Frameshift 8:23006948-23006948 + NCI-H1770 COSM21672 c.117C>T p.T39T Substitution - coding silent 8:23004551-23004551 + MD-274 COSM303105 c.2172G>A p.S724S Substitution - coding silent 8:23017457-23017457 + TCGA-EE-A20C-06 COSM3647324 c.1620+5G>T p.? Unknown 8:23008116-23008116 + TCGA-06-2557-01 COSM3412921 c.532G>A p.A178T Substitution - Missense 8:23006777-23006777 + WA16 COSM241413 c.829C>T p.R277C Substitution - Missense 8:23007074-23007074 + PDA_035 COSM4366738 c.665G>A p.R222H Substitution - Missense 8:23006910-23006910 + ESO-859 COSM1240061 c.232G>A p.V78I Substitution - Missense 8:23005411-23005411 + TCGA-BR-8484-01 COSM3898998 c.1640G>A p.S547N Substitution - Missense 8:23010557-23010557 + PTC-53C COSM4162921 c.2169C>A p.S723S Substitution - coding silent 8:23017454-23017454 + CHC361TA COSM3669883 c.717G>A p.P239P Substitution - coding silent 8:23006962-23006962 + cSCCP6 COSM136652 c.1366G>A p.E456K Substitution - Missense 8:23007611-23007611 + PCSI_0005_Pa_X COSM3382189 c.217G>A p.V73I Substitution - Missense 8:23005396-23005396 + TCGA-AX-A0J1-01 COSM1098193 c.2053C>T p.R685C Substitution - Missense 8:23017338-23017338 + Pat_28_B COSM5874389 c.116C>T p.T39I Substitution - Missense 8:23004550-23004550 + P125 COSM1736807 c.267C>G p.H89Q Substitution - Missense 8:23005446-23005446 + Pat_41_B COSM5874392 c.1634A>G p.Y545C Substitution - Missense 8:23010551-23010551 + TCGA-HU-A4GT-01 COSM3898988 c.325A>G p.I109V Substitution - Missense 8:23005988-23005988 + SNU-C2B COSM2786479 c.1749G>A p.L583L Substitution - coding silent 8:23010666-23010666 + 16 COSM5733097 c.1702G>A p.D568N Substitution - Missense 8:23010619-23010619 + OSCC-GB_01090111 COSM2786461 c.680C>A p.P227H Substitution - Missense 8:23006925-23006925 + TCGA-F1-6874-01 COSM3898995 c.1104C>T p.D368D Substitution - coding silent 8:23007349-23007349 + YUKAT COSM5409221 c.2118T>C p.S706S Substitution - coding silent 8:23017403-23017403 + TCGA-B0-5098-01 COSM1496842 c.1534A>G p.S512G Substitution - Missense 8:23008025-23008025 + TCGA-BK-A0C9-01 COSM1098165 c.393C>A p.P131P Substitution - coding silent 8:23006056-23006056 + TCGA-AP-A051-01 COSM1098159 c.69C>T p.N23N Substitution - coding silent 8:23004503-23004503 + TCGA-C5-A1BQ-01 COSM4821302 c.238C>T p.L80L Substitution - coding silent 8:23005417-23005417 + TCGA-60-2698-01 COSM750057 c.2096G>A p.R699Q Substitution - Missense 8:23017381-23017381 + TCGA-AP-A059-01 COSM1098183 c.1184G>A p.S395N Substitution - Missense 8:23007429-23007429 + TCGA-A8-A0A6-01 COSM3834438 c.368A>C p.Y123S Substitution - Missense 8:23006031-23006031 + TCGA-CG-5721-01 COSM3898992 c.859A>G p.T287A Substitution - Missense 8:23007104-23007104 + TCGA-FU-A3HZ-01 COSM4839339 c.1587T>C p.F529F Substitution - coding silent 8:23008078-23008078 + CSCC-44-T COSM4527123 c.1375G>C p.D459H Substitution - Missense 8:23007620-23007620 + TCGA-AP-A051-01 COSM1098187 c.1413G>T p.E471D Substitution - Missense 8:23007658-23007658 + TCGA-D1-A17M-01 COSM1098169 c.434G>A p.R145H Substitution - Missense 8:23006097-23006097 + TCGA-AP-A059-01 COSM1098179 c.1114C>T p.R372W Substitution - Missense 8:23007359-23007359 + TCGA-13-1492-01 COSM117294 c.1039G>A p.V347M Substitution - Missense 8:23007284-23007284 + LUAD-RT-S01721 COSM380676 c.1789G>T p.G597W Substitution - Missense 8:23014707-23014707 + SC_9081 COSM5570043 c.144G>A p.T48T Substitution - coding silent 8:23004578-23004578 + SJRHB002_D COSM1489188 c.1324G>A p.E442K Substitution - Missense 8:23007569-23007569 + SK-OV-3 COSM1684137 c.1975_1977delGAG p.E659delE Deletion - In frame 8:23017260-23017262 + CSCC-42-T COSM4472016 c.1689C>T p.F563F Substitution - coding silent 8:23010606-23010606 + TCGA-EI-6917-01 COSM183286 c.169G>A p.D57N Substitution - Missense 8:23004603-23004603 + CHC361TA COSM3669883 c.717G>A p.P239P Substitution - coding silent 8:23006962-23006962 + I2L-P19Tb-Tumor-Organoid COSM5358806 c.458A>G p.N153S Substitution - Missense 8:23006121-23006121 + CHEWS023 COSM4587997 c.1400T>C p.I467T Substitution - Missense 8:23007645-23007645 + PD9597a COSM5789572 c.1076C>G p.P359R Substitution - Missense 8:23007321-23007321 + PD6342a COSM1636772 c.568G>T p.V190L Substitution - Missense 8:23006813-23006813 + QC2-33-T2 COSM5654521 c.2104C>T p.L702F Substitution - Missense 8:23017389-23017389 + T3090 COSM4721576 c.1509C>T p.T503T Substitution - coding silent 8:23008000-23008000 + T231 COSM4721575 c.1125A>C p.G375G Substitution - coding silent 8:23007370-23007370 + TCGA-A8-A0A6-01 COSM3834441 c.1622T>G p.V541G Substitution - Missense 8:23010539-23010539 + ESO-081 COSM1243569 c.214G>A p.V72M Substitution - Missense 8:23005393-23005393 + TCGA-EE-A2GT-06 COSM3647321 c.927G>A p.S309S Substitution - coding silent 8:23007172-23007172 + TCGA-EI-6882-01 COSM3432277 c.1536C>T p.S512S Substitution - coding silent 8:23008027-23008027 + TCGA-AN-A046-01 COSM3834437 c.8C>T p.S3F Substitution - Missense 8:23004442-23004442 + 255 COSM3731841 c.420C>A p.C140* Substitution - Nonsense 8:23006083-23006083 + TCGA-D8-A1XK-01 COSM3834439 c.610A>G p.I204V Substitution - Missense 8:23006855-23006855 + TCGA-G9-6342-01 COSM3675105 c.1540C>A p.H514N Substitution - Missense 8:23008031-23008031 + 12-P2194 COSM4587996 c.1174G>A p.A392T Substitution - Missense 8:23007419-23007419 + 587278 COSM1223706 c.433C>T p.R145C Substitution - Missense 8:23006096-23006096 + TCGA-BR-4257-01 COSM1699810 c.1738C>T p.R580C Substitution - Missense 8:23010655-23010655 + TCGA-DK-A1AC-01 COSM1313934 c.857C>G p.S286C Substitution - Missense 8:23007102-23007102 + TCGA-A6-6780-01 COSM1098173 c.830G>A p.R277H Substitution - Missense 8:23007075-23007075 + 587228 COSM1223704 c.1654C>T p.R552W Substitution - Missense 8:23010571-23010571 + SNU-175 COSM2786449 c.241C>T p.R81C Substitution - Missense 8:23005420-23005420 + Pat_24_A COSM5874391 c.1123G>A p.G375R Substitution - Missense 8:23007368-23007368 + SNU-175 COSM2786469 c.1045G>A p.E349K Substitution - Missense 8:23007290-23007290 + BD223T COSM5496531 c.524G>A p.R175Q Substitution - Missense 8:23006769-23006769 + YUFIT COSM5409220 c.1164C>T p.S388S Substitution - coding silent 8:23007409-23007409 + TCGA-G3-A25S-01 COSM4926680 c.2045G>A p.R682Q Substitution - Missense 8:23017330-23017330 + PCSI_0083_Pa_X COSM3382190 c.606C>T p.N202N Substitution - coding silent 8:23006851-23006851 + 1_PRE-TREATMENT COSM1720259 c.71C>T p.A24V Substitution - Missense 8:23004505-23004505 + BCB151T COSM1098185 c.1381C>T p.R461C Substitution - Missense 8:23007626-23007626 + SJRHB002 COSM1489188 c.1324G>A p.E442K Substitution - Missense 8:23007569-23007569 + SNU-175 COSM2786476 c.1659C>T p.A553A Substitution - coding silent 8:23010576-23010576 + ESCC-231T COSM3942606 c.52G>A p.V18I Substitution - Missense 8:23004486-23004486 + BD72T COSM5512474 c.607G>A p.A203T Substitution - Missense 8:23006852-23006852 + TCGA-HU-8602-01 COSM3898999 c.2098C>T p.R700C Substitution - Missense 8:23017383-23017383 + TCGA-24-2254-01 COSM80448 c.801C>T p.D267D Substitution - coding silent 8:23007046-23007046 + TCGA-G4-6302-01 COSM3699025 c.594C>T p.D198D Substitution - coding silent 8:23006839-23006839 + HCC2998 COSM1673805 c.1559C>T p.S520F Substitution - Missense 8:23008050-23008050 + TCGA-CG-5718-01 COSM750057 c.2096G>A p.R699Q Substitution - Missense 8:23017381-23017381 + SC_9092 COSM5566689 c.203G>A p.R68H Substitution - Missense 8:23005382-23005382 + TCGA-D8-A1XK-01 COSM3834440 c.982C>T p.H328Y Substitution - Missense 8:23007227-23007227 + pfg122T COSM4746791 c.915delG p.G307fs*88 Deletion - Frameshift 8:23007160-23007160 + TCGA-AP-A059-01 COSM1098189 c.1466G>A p.R489Q Substitution - Missense 8:23007711-23007711 + TCGA-EB-A5SE-01 COSM3647323 c.1068C>T p.G356G Substitution - coding silent 8:23007313-23007313 + TCGA-BR-6566-01 COSM3898994 c.1087C>T p.R363C Substitution - Missense 8:23007332-23007332 + TCGA-D1-A17H-01 COSM1098177 c.899T>C p.L300P Substitution - Missense 8:23007144-23007144 + WSU-HN13 COSM4601777 c.1966G>A p.E656K Substitution - Missense 8:23015743-23015743 + Pat_44_B COSM5874390 c.499G>A p.E167K Substitution - Missense 8:23006744-23006744 + PDA_020 COSM4999032 c.475T>G p.L159V Substitution - Missense 8:23006138-23006138 + BCB151T COSM1098185 c.1381C>T p.R461C Substitution - Missense 8:23007626-23007626 + TCGA-BR-A4QL-01 COSM2786469 c.1045G>A p.E349K Substitution - Missense 8:23007290-23007290 + TCGA-GN-A266-06 COSM3647320 c.849C>T p.I283I Substitution - coding silent 8:23007094-23007094 + TCGA-ER-A19G-06 COSM1720259 c.71C>T p.A24V Substitution - Missense 8:23004505-23004505 + TCGA-B5-A0JY-01 COSM1098171 c.632G>A p.R211H Substitution - Missense 8:23006877-23006877 + CSCC-29-T COSM4561476 c.820G>A p.E274K Substitution - Missense 8:23007065-23007065 + TCGA-D1-A17Q-01 COSM1098181 c.1154T>C p.V385A Substitution - Missense 8:23007399-23007399 + STC252 COSM5063043 c.945C>T p.H315H Substitution - coding silent 8:23007190-23007190 + SA218 COSM212421 c.1054G>A p.D352N Substitution - Missense 8:23007299-23007299 + TCGA-AP-A059-01 COSM1098163 c.277C>T p.R93C Substitution - Missense 8:23005456-23005456 + TCGA-D1-A103-01 COSM1098161 c.93C>A p.I31I Substitution - coding silent 8:23004527-23004527 + WA16 COSM241414 c.1993C>T p.R665W Substitution - Missense 8:23017278-23017278 + TCGA-AZ-6598-01 COSM1456135 c.838_839insC p.H281fs*14 Insertion - Frameshift 8:23007083-23007084 + ESO-536 COSM1264152 c.1937_1938insC p.R648fs*39 Insertion - Frameshift 8:23015714-23015715 + HCT116 COSM2786451 c.276C>T p.D92D Substitution - coding silent 8:23005455-23005455 + TCGA-EE-A2GO-06 COSM3647322 c.1007G>A p.R336Q Substitution - Missense 8:23007252-23007252 + 31231321 COSM1098179 c.1114C>T p.R372W Substitution - Missense 8:23007359-23007359 + CRC-06T COSM1720259 c.71C>T p.A24V Substitution - Missense 8:23004505-23004505 + C99 COSM2786474 c.1450G>A p.V484I Substitution - Missense 8:23007695-23007695 + CSCC-44-T COSM4526274 c.1318G>T p.E440* Substitution - Nonsense 8:23007563-23007563 + HCC058T COSM5804123 c.1502-2A>T p.? Unknown 8:23007991-23007991 + TCGA-C5-A3HL-01 COSM4821302 c.238C>T p.L80L Substitution - coding silent 8:23005417-23005417 + HCC2998 COSM1673805 c.1559C>T p.S520F Substitution - Missense 8:23008050-23008050 + OSCC-GB_01110111 COSM4884598 c.1155G>A p.V385V Substitution - coding silent 8:23007400-23007400 + TCGA-AX-A05Z-01 COSM1098167 c.397G>T p.A133S Substitution - Missense 8:23006060-23006060 + ATL058 COSM5710920 c.1417T>C p.F473L Substitution - Missense 8:23007662-23007662 + TCGA-AP-A059-01 COSM1098191 c.1886A>G p.D629G Substitution - Missense 8:23015663-23015663 + T86 COSM1240062 c.1616G>A p.R539Q Substitution - Missense 8:23008107-23008107 + SNU-C2B COSM2786457 c.567C>T p.S189S Substitution - coding silent 8:23006812-23006812 + SW48 COSM2786472 c.1305delG p.E437fs*2 Deletion - Frameshift 8:23007550-23007550 + S00936 COSM314793 c.802G>A p.V268I Substitution - Missense 8:23007047-23007047 + 1_RESISTANT COSM1720259 c.71C>T p.A24V Substitution - Missense 8:23004505-23004505 + ESO-859 COSM1240062 c.1616G>A p.R539Q Substitution - Missense 8:23008107-23008107 + TCGA-BR-8363-01 COSM2786473 c.1327C>T p.R443C Substitution - Missense 8:23007572-23007572 + TCGA-EE-A2GI-06 COSM3647319 c.523C>T p.R175W Substitution - Missense 8:23006768-23006768 + PA018 COSM1162213 c.970G>T p.D324Y Substitution - Missense 8:23007215-23007215 + SWE-7 COSM1178681 c.392C>G p.P131R Substitution - Missense 8:23006055-23006055 + TCGA-18-3416-01 COSM750058 c.209G>T p.R70L Substitution - Missense 8:23005388-23005388 + YUMER COSM1699810 c.1738C>T p.R580C Substitution - Missense 8:23010655-23010655 + TCGA-CG-5733-01 COSM3898987 c.209G>A p.R70Q Substitution - Missense 8:23005388-23005388 + TCGA-A5-A0GB-01 COSM1098157 c.15G>A p.M5I Substitution - Missense 8:23004449-23004449 + TCGA-HU-A4G8-01 COSM3898990 c.723G>A p.P241P Substitution - coding silent 8:23006968-23006968 + PD4198a COSM5791198 c.1072G>A p.G358S Substitution - Missense 8:23007317-23007317 + CSCC-10-T COSM4460382 c.1097C>T p.T366I Substitution - Missense 8:23007342-23007342 + TCGA-AP-A051-01 COSM1098175 c.845A>C p.K282T Substitution - Missense 8:23007090-23007090 + TCGA-J9-A52C-01 COSM1098159 c.69C>T p.N23N Substitution - coding silent 8:23004503-23004503 + 587284 COSM1223707 c.1771G>T p.E591* Substitution - Nonsense 8:23010688-23010688 + TCGA-BR-8591-01 COSM3898989 c.668A>G p.N223S Substitution - Missense 8:23006913-23006913 + TCGA-BR-4201-01 COSM3898996 c.1139C>T p.P380L Substitution - Missense 8:23007384-23007384 +

Mutation - CGAP UNIGENE CYTOBAND OMIM SNP Hs.372688 8p21.3 607352

Mutation - IntOGen Mutated from(ref) Mutated to(alt) Consequence Type AA Mutation CDS Mutation Chr Pos Cancer A G IntronicSNV . c.1927-173A>G 8 22872978 CLL C A Missense p.F683L c.2049C>A 8 22874781 MB C A Missense p.L591M c.1771C>A 8 22868135 CM C A Missense p.P206T c.616C>A 8 22864308 LUAD - C Frameshift p.R670Pfs*39 c.2008dupC 8 22873228 ESCA C G Missense p.P554A c.1660C>G 8 22865598 STAD CG TT Missense p.R197L c.589_590delinsTT 8 22864281 CM C T Missense p.A46V c.137C>T 8 22862018 CM C T Missense p.P402L c.1205C>T 8 22864897 STAD C T Missense p.R248W c.742C>T 8 22864434 HNSC C T Missense p.R483C c.1447C>T 8 22865139 UCEC C T Missense p.R574W c.1720C>T 8 22868084 CM C T Missense p.R602C c.1804C>T 8 22868168 STAD C T Missense p.T457M c.1370C>T 8 22865062 COREAD C T Nonsense p.R227* c.679C>T 8 22864371 HNSC C T Synonymous p.C84C c.252C>T 8 22862133 STAD C T Synonymous p.D289D c.867C>T 8 22864559 OV C T Synonymous p.D390D c.1170C>T 8 22864862 STAD C T Synonymous p.D93D c.279C>T 8 22862905 BRCA C T Synonymous p.I305I c.915C>T 8 22864607 CM C T Synonymous p.P184P c.552C>T 8 22864244 CM C T Synonymous p.T586T c.1758C>T 8 22868122 LUAD G A Missense p.A200T c.598G>A 8 22864290 GBM G A Missense p.D374N c.1120G>A 8 22864812 BRCA G A Missense p.E464K c.1390G>A 8 22865082 BRCA G A Missense p.M27I c.81G>A 8 22861962 UCEC G A Missense p.R116H c.347G>A 8 22862973 COREAD G A Missense p.R167H c.500G>A 8 22863610 UCEC G A Missense p.R358Q c.1073G>A 8 22864765 CM G A Missense p.R561Q c.1682G>A 8 22865620 ESCA G A Missense p.R721Q c.2162G>A 8 22874894 STAD G A Missense p.R92Q c.275G>A 8 22862901 STAD G A Missense p.V100I c.298G>A 8 22862924 ESCA G A Missense p.V290I c.868G>A 8 22864560 SCLC G A Missense p.V34I c.100G>A 8 22861981 LUSC G A Missense p.V369M c.1105G>A 8 22864797 OV G A Synonymous p.S331S c.993G>A 8 22864685 CM G T Missense p.D170Y c.508G>T 8 22863618 LUAD G T Missense p.M143I c.429G>T 8 22863539 CM G T Missense p.R92L c.275G>T 8 22862901 LUSC G T SpliceDonorSNV . c.2032+1G>T 8 22873257 LUAD G T SpliceDonorSNV . c.362+1G>T 8 22862989 BRCA T C Missense p.L322P c.965T>C 8 22864657 UCEC