Mutation - TCGA Type Chromosome Start Position End Position Strand Variant Classification Variant Type Reference Allele Tumor_seq Allele 1 Tumor_seq Allele 2 Tumor Sample Barcode Matched Norm Sample Barcode Genome Change cDNA Change Codon Change Protein Change ACC 17 52993172 52993172 + Missense_Mutation SNP G G C TCGA-OR-A5L2-01A-11D-A30A-10 TCGA-OR-A5L2-10A-01D-A30A-10 g.chr17:52993172G>C c.669G>C c.(667-669)ttG>ttC p.L223F ACC 17 53014522 53014522 + Missense_Mutation SNP G G T TCGA-OR-A5KB-01A-11D-A30A-10 TCGA-OR-A5KB-11A-11D-A30A-10 g.chr17:53014522G>T c.968G>T c.(967-969)aGt>aTt p.S323I BLCA 17 52981124 52981124 + Missense_Mutation SNP C C G TCGA-E7-A7XN-01A-11D-A34U-08 TCGA-E7-A7XN-10A-01D-A34X-08 g.chr17:52981124C>G c.114C>G c.(112-114)atC>atG p.I38M BLCA 17 52981124 52981124 + Silent SNP C C A TCGA-FD-A3B7-01A-31D-A20D-08 TCGA-FD-A3B7-10A-01D-A20D-08 g.chr17:52981124C>A c.114C>A c.(112-114)atC>atA p.I38I BLCA 17 52993152 52993152 + Silent SNP C C A TCGA-GV-A3JW-01A-11D-A20D-08 TCGA-GV-A3JW-10A-01D-A20D-08 g.chr17:52993152C>A c.649C>A c.(649-651)Cga>Aga p.R217R BLCA 17 52993194 52993194 + Missense_Mutation SNP G G C TCGA-4Z-AA7W-01A-11D-A391-08 TCGA-4Z-AA7W-10A-01D-A394-08 g.chr17:52993194G>C c.691G>C c.(691-693)Gaa>Caa p.E231Q BLCA 17 53014503 53014503 + Missense_Mutation SNP C C A TCGA-DK-A2I4-01A-11D-A21A-08 TCGA-DK-A2I4-10A-01D-A21A-08 g.chr17:53014503C>A c.949C>A c.(949-951)Ctc>Atc p.L317I BLCA 17 53016305 53016305 + Missense_Mutation SNP G G C TCGA-KQ-A41P-01A-12D-A339-08 TCGA-KQ-A41P-10F-01D-A339-08 g.chr17:53016305G>C c.1054G>C c.(1054-1056)Gat>Cat p.D352H BLCA 17 53027406 53027406 + Splice_Site SNP C C T TCGA-K4-A5RI-01A-11D-A289-08 TCGA-K4-A5RI-10A-01D-A289-08 g.chr17:53027406C>T c.1289C>T c.(1288-1290)gCg>gTg p.A430V BRCA 17 53026927 53026927 + Missense_Mutation SNP A A G TCGA-JL-A3YW-01A-12D-A23C-09 TCGA-JL-A3YW-10B-01D-A23C-09 g.chr17:53026927A>G c.1231A>G c.(1231-1233)Acc>Gcc p.T411A CESC 17 53007533 53007533 + Missense_Mutation SNP G G A TCGA-IR-A3LK-01A-12D-A20U-09 TCGA-IR-A3LK-10A-01D-A20U-09 g.chr17:53007533G>A c.820G>A c.(820-822)Gag>Aag p.E274K CESC 17 53016346 53016346 + Missense_Mutation SNP G G C TCGA-DR-A0ZM-01A-12D-A10S-08 TCGA-DR-A0ZM-10A-01D-A10S-08 g.chr17:53016346G>C c.1095G>C c.(1093-1095)atG>atC p.M365I COAD 17 52991147 52991147 + Silent SNP C C T TCGA-CK-5913-01A-11D-1650-10 TCGA-CK-5913-10A-01D-1650-10 g.chr17:52991147C>T c.411C>T c.(409-411)agC>agT p.S137S COAD 17 52993153 52993153 + Missense_Mutation SNP G G C TCGA-AA-3697-01A-01D-1719-10 TCGA-AA-3697-11A-01D-1719-10 g.chr17:52993153G>C c.650G>C c.(649-651)cGa>cCa p.R217P COAD 17 52993177 52993177 + Missense_Mutation SNP A A G TCGA-AA-3697-01A-01D-1719-10 TCGA-AA-3697-11A-01D-1719-10 g.chr17:52993177A>G c.674A>G c.(673-675)gAg>gGg p.E225G COAD 17 53007453 53007453 + Missense_Mutation SNP G G A TCGA-AD-6895-01A-11D-1924-10 TCGA-AD-6895-10A-01D-1924-10 g.chr17:53007453G>A c.740G>A c.(739-741)cGg>cAg p.R247Q COADREAD 17 52991147 52991147 + Silent SNP C C T TCGA-CK-5913-01A-11D-1650-10 TCGA-CK-5913-10A-01D-1650-10 g.chr17:52991147C>T c.411C>T c.(409-411)agC>agT p.S137S COADREAD 17 52993153 52993153 + Missense_Mutation SNP G G C TCGA-AA-3697-01A-01D-1719-10 TCGA-AA-3697-11A-01D-1719-10 g.chr17:52993153G>C c.650G>C c.(649-651)cGa>cCa p.R217P COADREAD 17 52993177 52993177 + Missense_Mutation SNP A A G TCGA-AA-3697-01A-01D-1719-10 TCGA-AA-3697-11A-01D-1719-10 g.chr17:52993177A>G c.674A>G c.(673-675)gAg>gGg p.E225G COADREAD 17 53007453 53007453 + Missense_Mutation SNP G G A TCGA-AD-6895-01A-11D-1924-10 TCGA-AD-6895-10A-01D-1924-10 g.chr17:53007453G>A c.740G>A c.(739-741)cGg>cAg p.R247Q DLBC 17 53007452 53007452 + Silent SNP C C A TCGA-GS-A9TT-01A-11D-A382-10 TCGA-GS-A9TT-10A-01D-A385-10 g.chr17:53007452C>A c.739C>A c.(739-741)Cgg>Agg p.R247R ESCA 17 53016302 53016302 + Missense_Mutation SNP T T G TCGA-2H-A9GF-01A-11D-A37C-09 TCGA-2H-A9GF-11A-11D-A37F-09 g.chr17:53016302T>G c.1051T>G c.(1051-1053)Tct>Gct p.S351A ESCA 17 53016364 53016364 + Missense_Mutation SNP G G T TCGA-L5-A893-01A-11D-A36J-09 TCGA-L5-A893-11A-21D-A36M-09 g.chr17:53016364G>T c.1113G>T c.(1111-1113)gaG>gaT p.E371D GBMLGG 17 52992099 52992099 + Nonsense_Mutation SNP G G T TCGA-DU-6392-01A-11D-1705-08 TCGA-DU-6392-10A-01D-1705-08 g.chr17:52992099G>T c.598G>T c.(598-600)Gaa>Taa p.E200* GBMLGG 17 52993145 52993145 + Missense_Mutation SNP G G A TCGA-S9-A6UA-01A-12D-A33T-08 TCGA-S9-A6UA-10A-01D-A33W-08 g.chr17:52993145G>A c.642G>A c.(640-642)atG>atA p.M214I HNSC 17 52993152 52993152 + Nonsense_Mutation SNP C C T TCGA-CN-A499-01A-11D-A24D-08 TCGA-CN-A499-10A-01D-A24F-08 g.chr17:52993152C>T c.649C>T c.(649-651)Cga>Tga p.R217* HNSC 17 52993200 52993200 + Missense_Mutation SNP C C T TCGA-UF-A719-01A-12D-A34J-08 TCGA-UF-A719-10A-01D-A34M-08 g.chr17:52993200C>T c.697C>T c.(697-699)Cat>Tat p.H233Y KIPAN 17 52990171 52990171 + Missense_Mutation SNP A A G TCGA-5P-A9K6-01A-11D-A42J-10 TCGA-5P-A9K6-10A-01D-A42M-10 g.chr17:52990171A>G c.367A>G c.(367-369)Att>Gtt p.I123V KIPAN 17 53014035 53014035 + Silent SNP T T C TCGA-BP-5178-01A-01D-1429-08 TCGA-BP-5178-11A-01D-1429-08 g.chr17:53014035T>C c.880T>C c.(880-882)Ttg>Ctg p.L294L KIPAN 17 53026926 53026926 + Silent SNP A A G TCGA-B4-5834-01A-11D-1669-08 TCGA-B4-5834-10A-02D-1669-08 g.chr17:53026926A>G c.1230A>G c.(1228-1230)caA>caG p.Q410Q KIPAN 17 53027421 53027421 + Missense_Mutation SNP A A G TCGA-BP-5199-01A-01D-1429-08 TCGA-BP-5199-11A-01D-1429-08 g.chr17:53027421A>G c.1304A>G c.(1303-1305)gAt>gGt p.D435G KIRC 17 53014035 53014035 + Silent SNP T T C TCGA-BP-5178-01A-01D-1429-08 TCGA-BP-5178-11A-01D-1429-08 g.chr17:53014035T>C c.880T>C c.(880-882)Ttg>Ctg p.L294L KIRC 17 53026926 53026926 + Silent SNP A A G TCGA-B4-5834-01A-11D-1669-08 TCGA-B4-5834-10A-02D-1669-08 g.chr17:53026926A>G c.1230A>G c.(1228-1230)caA>caG p.Q410Q KIRC 17 53027421 53027421 + Missense_Mutation SNP A A G TCGA-BP-5199-01A-01D-1429-08 TCGA-BP-5199-11A-01D-1429-08 g.chr17:53027421A>G c.1304A>G c.(1303-1305)gAt>gGt p.D435G KIRP 17 52990171 52990171 + Missense_Mutation SNP A A G TCGA-5P-A9K6-01A-11D-A42J-10 TCGA-5P-A9K6-10A-01D-A42M-10 g.chr17:52990171A>G c.367A>G c.(367-369)Att>Gtt p.I123V LGG 17 52992099 52992099 + Nonsense_Mutation SNP G G T TCGA-DU-6392-01A-11D-1705-08 TCGA-DU-6392-10A-01D-1705-08 g.chr17:52992099G>T c.598G>T c.(598-600)Gaa>Taa p.E200* LGG 17 52993145 52993145 + Missense_Mutation SNP G G A TCGA-S9-A6UA-01A-12D-A33T-08 TCGA-S9-A6UA-10A-01D-A33W-08 g.chr17:52993145G>A c.642G>A c.(640-642)atG>atA p.M214I LIHC 17 52991114 52991114 + Missense_Mutation SNP G G C TCGA-DD-A1EE-01A-11D-A12Z-10 TCGA-DD-A1EE-10A-01D-A12Z-10 g.chr17:52991114G>C c.378G>C c.(376-378)tgG>tgC p.W126C LIHC 17 52991114 52991114 + Missense_Mutation SNP G G C TCGA-DD-A1EH-01A-11D-A12Z-10 TCGA-DD-A1EH-10A-01D-A12Z-10 g.chr17:52991114G>C c.378G>C c.(376-378)tgG>tgC p.W126C LIHC 17 53027460 53027460 + Missense_Mutation SNP A A G TCGA-G3-A3CJ-01A-11D-A20W-10 TCGA-G3-A3CJ-10A-01D-A20W-10 g.chr17:53027460A>G c.1343A>G c.(1342-1344)gAt>gGt p.D448G LUAD 17 52978236 52978236 + Missense_Mutation SNP G G A TCGA-62-A470-01A-11D-A24D-08 TCGA-62-A470-10A-01D-A24F-08 g.chr17:52978236G>A c.10G>A c.(10-12)Ggc>Agc p.G4S LUAD 17 52981101 52981101 + Missense_Mutation SNP G G C TCGA-17-Z057-01A-01W-0747-08 TCGA-17-Z057-11A-01W-0747-08 g.chr17:52981101G>C c.91G>C c.(91-93)Gat>Cat p.D31H LUAD 17 52990025 52990025 + Splice_Site SNP A A T TCGA-17-Z045-01A-01W-0746-08 TCGA-17-Z045-11A-01W-0747-08 g.chr17:52990025A>T c.e4-1 LUAD 17 52990037 52990038 + Frame_Shift_Del DEL TG TG - TCGA-05-4424-01A-22D-1855-08 TCGA-05-4424-10A-01D-1855-08 g.chr17:52990037_52990038delTG c.233_234delTG c.(232-234)atgfs p.M78fs LUAD 17 52990140 52990140 + Silent SNP A A T TCGA-62-A46O-01A-11D-A24D-08 TCGA-62-A46O-10A-01D-A24F-08 g.chr17:52990140A>T c.336A>T c.(334-336)ccA>ccT p.P112P LUAD 17 52991148 52991148 + Nonsense_Mutation SNP G G T TCGA-05-4427-01A-21D-1855-08 TCGA-05-4427-10A-01D-1855-08 g.chr17:52991148G>T c.412G>T c.(412-414)Gaa>Taa p.E138* LUAD 17 52993207 52993207 + Missense_Mutation SNP A A T TCGA-86-A456-01A-11D-A24D-08 TCGA-86-A456-10A-01D-A24F-08 g.chr17:52993207A>T c.704A>T c.(703-705)gAc>gTc p.D235V LUAD 17 53027483 53027483 + Missense_Mutation SNP A A G TCGA-17-Z022-01A-01W-0746-08 TCGA-17-Z022-11A-01W-0746-08 g.chr17:53027483A>G c.1366A>G c.(1366-1368)Aca>Gca p.T456A LUSC 17 52978259 52978259 + Nonsense_Mutation SNP C C G TCGA-60-2715-01A-01D-1522-08 TCGA-60-2715-11A-01D-1522-08 g.chr17:52978259C>G c.33C>G c.(31-33)taC>taG p.Y11* LUSC 17 52993166 52993166 + Silent SNP C C T TCGA-18-3407-01A-01D-0983-08 TCGA-18-3407-11A-01D-0983-08 g.chr17:52993166C>T c.663C>T c.(661-663)gcC>gcT p.A221A OV 17 52993155 52993155 + Missense_Mutation SNP G G A TCGA-13-0910-01A-01W-0421-09 TCGA-13-0910-10A-01W-0421-09 g.chr17:52993155G>A c.652G>A c.(652-654)Gtg>Atg p.V218M PAAD 17 53007467 53007467 + Missense_Mutation SNP A A T TCGA-2L-AAQM-01A-11D-A397-08 TCGA-2L-AAQM-11A-11D-A39A-08 g.chr17:53007467A>T c.754A>T c.(754-756)Agg>Tgg p.R252W PAAD 17 53027406 53027406 + Splice_Site SNP C C T TCGA-IB-7651-01A-11D-2154-08 TCGA-IB-7651-10A-01D-2154-08 g.chr17:53027406C>T c.1289C>T c.(1288-1290)gCg>gTg p.A430V PAAD 17 53037950 53037950 + Missense_Mutation SNP C C T TCGA-IB-7651-01A-11D-2154-08 TCGA-IB-7651-10A-01D-2154-08 g.chr17:53037950C>T c.1394C>T c.(1393-1395)gCt>gTt p.A465V PRAD 17 53007460 53007460 + Missense_Mutation SNP G G T TCGA-EJ-5521-01A-01D-1576-08 TCGA-EJ-5521-10A-01D-1577-08 g.chr17:53007460G>T c.747G>T c.(745-747)atG>atT p.M249I SARC 17 52992048 52992048 + Missense_Mutation SNP G G T TCGA-LI-A9QH-01A-11D-A37C-09 TCGA-LI-A9QH-10A-01D-A37F-09 g.chr17:52992048G>T c.547G>T c.(547-549)Gct>Tct p.A183S SKCM 17 52981124 52981124 + Silent SNP C C T TCGA-D3-A3CF-06A-11D-A196-08 TCGA-D3-A3CF-10A-01D-A198-08 g.chr17:52981124C>T c.114C>T c.(112-114)atC>atT p.I38I SKCM 17 52990072 52990072 + Silent SNP C C T TCGA-EE-A2MJ-06A-11D-A197-08 TCGA-EE-A2MJ-10A-01D-A199-08 g.chr17:52990072C>T c.268C>T c.(268-270)Ctg>Ttg p.L90L SKCM 17 52991127 52991127 + Missense_Mutation SNP C C T TCGA-EE-A29H-06A-12D-A197-08 TCGA-EE-A29H-10A-01D-A199-08 g.chr17:52991127C>T c.391C>T c.(391-393)Cca>Tca p.P131S SKCM 17 52992013 52992013 + Missense_Mutation SNP C C T TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 g.chr17:52992013C>T c.512C>T c.(511-513)tCa>tTa p.S171L SKCM 17 53014034 53014034 + Missense_Mutation SNP T T G TCGA-D9-A6EC-06A-11D-A30X-08 TCGA-D9-A6EC-10A-01D-A30X-08 g.chr17:53014034T>G c.879T>G c.(877-879)atT>atG p.I293M SKCM 17 53014064 53014064 + Silent SNP C C T TCGA-ER-A19G-06A-11D-A196-08 TCGA-ER-A19G-10A-01D-A198-08 g.chr17:53014064C>T c.909C>T c.(907-909)gcC>gcT p.A303A SKCM 17 53014581 53014581 + Missense_Mutation SNP G G A TCGA-EE-A2MJ-06A-11D-A197-08 TCGA-EE-A2MJ-10A-01D-A199-08 g.chr17:53014581G>A c.1027G>A c.(1027-1029)Ggc>Agc p.G343S SKCM 17 53014582 53014582 + Missense_Mutation SNP G G A TCGA-EE-A2MJ-06A-11D-A197-08 TCGA-EE-A2MJ-10A-01D-A199-08 g.chr17:53014582G>A c.1028G>A c.(1027-1029)gGc>gAc p.G343D SKCM 17 53024633 53024633 + Missense_Mutation SNP G G A TCGA-DA-A1I1-06A-12D-A196-08 TCGA-DA-A1I1-10A-01D-A198-08 g.chr17:53024633G>A c.1142G>A c.(1141-1143)aGg>aAg p.R381K SKCM 17 53024634 53024634 + Silent SNP G G A TCGA-DA-A1I1-06A-12D-A196-08 TCGA-DA-A1I1-10A-01D-A198-08 g.chr17:53024634G>A c.1143G>A c.(1141-1143)agG>agA p.R381R SKCM 17 53037958 53037958 + Missense_Mutation SNP C C T TCGA-GN-A4U9-06A-11D-A32N-08 TCGA-GN-A4U9-10B-01D-A32N-08 g.chr17:53037958C>T c.1402C>T c.(1402-1404)Cac>Tac p.H468Y

Mutation - ICGC Project Code Chromosome Chromosome Start Chromosome End Mutation Type Mutated from Allele Mutated to Allele Consequence Type AA Mutation CDS Mutation BLCA-CN 17 53014525 53014525 single base substitution C T 3_prime_UTR_variant BLCA-CN 17 53014525 53014525 single base substitution C T downstream_gene_variant BLCA-CN 17 53014525 53014525 single base substitution C T exon_variant BLCA-CN 17 53014525 53014525 single base substitution C T missense_variant P212L 635C>T BLCA-CN 17 53014525 53014525 single base substitution C T missense_variant P247L 740C>T BLCA-CN 17 53014525 53014525 single base substitution C T missense_variant P317L 950C>T BLCA-CN 17 53014525 53014525 single base substitution C T missense_variant P324L 971C>T BLCA-CN 17 53014525 53014525 single base substitution C T upstream_gene_variant BLCA-US 17 52981124 52981124 single base substitution C A 3_prime_UTR_variant BLCA-US 17 52981124 52981124 single base substitution C A 5_prime_UTR_premature_start_codon_gain_variant BLCA-US 17 52981124 52981124 single base substitution C A downstream_gene_variant BLCA-US 17 52981124 52981124 single base substitution C A exon_variant BLCA-US 17 52981124 52981124 single base substitution C A intron_variant BLCA-US 17 52981124 52981124 single base substitution C A synonymous_variant I28I 84C>A BLCA-US 17 52981124 52981124 single base substitution C A synonymous_variant I34I 102C>A BLCA-US 17 52981124 52981124 single base substitution C A synonymous_variant I36I 108C>A BLCA-US 17 52981124 52981124 single base substitution C A synonymous_variant I38I 114C>A BLCA-US 17 52981124 52981124 single base substitution C A synonymous_variant I3I 9C>A BLCA-US 17 53014503 53014503 single base substitution C A 3_prime_UTR_variant BLCA-US 17 53014503 53014503 single base substitution C A downstream_gene_variant BLCA-US 17 53014503 53014503 single base substitution C A exon_variant BLCA-US 17 53014503 53014503 single base substitution C A missense_variant L205I 613C>A BLCA-US 17 53014503 53014503 single base substitution C A missense_variant L240I 718C>A BLCA-US 17 53014503 53014503 single base substitution C A missense_variant L310I 928C>A BLCA-US 17 53014503 53014503 single base substitution C A missense_variant L317I 949C>A BLCA-US 17 53014503 53014503 single base substitution C A upstream_gene_variant BOCA-FR 17 52978066 52978066 single base substitution C G 5_prime_UTR_premature_start_codon_gain_variant BOCA-FR 17 52978066 52978066 single base substitution C G downstream_gene_variant BOCA-FR 17 52978066 52978066 single base substitution C G upstream_gene_variant BRCA-EU 17 52972204 52972204 single base substitution T G upstream_gene_variant BRCA-EU 17 52973780 52973780 single base substitution C T upstream_gene_variant BRCA-EU 17 52973810 52973810 single base substitution C G upstream_gene_variant BRCA-EU 17 52974120 52974120 single base substitution C T upstream_gene_variant BRCA-EU 17 52974767 52974767 single base substitution A G upstream_gene_variant BRCA-EU 17 52976866 52976866 single base substitution G C 5_prime_UTR_variant BRCA-EU 17 52976866 52976866 single base substitution G C upstream_gene_variant BRCA-EU 17 52976888 52976888 single base substitution G C 5_prime_UTR_variant BRCA-EU 17 52976888 52976888 single base substitution G C upstream_gene_variant BRCA-EU 17 52977602 52977602 single base substitution G A exon_variant BRCA-EU 17 52977602 52977602 single base substitution G A intron_variant BRCA-EU 17 52977602 52977602 single base substitution G A upstream_gene_variant BRCA-EU 17 52977616 52977616 single base substitution C G intron_variant BRCA-EU 17 52977616 52977616 single base substitution C G upstream_gene_variant BRCA-EU 17 52977634 52977634 single base substitution C T intron_variant BRCA-EU 17 52977634 52977634 single base substitution C T upstream_gene_variant BRCA-EU 17 52977679 52977679 single base substitution C G intron_variant BRCA-EU 17 52977679 52977679 single base substitution C G upstream_gene_variant BRCA-EU 17 52977884 52977884 single base substitution C T 5_prime_UTR_premature_start_codon_gain_variant BRCA-EU 17 52977884 52977884 single base substitution C T downstream_gene_variant BRCA-EU 17 52977884 52977884 single base substitution C T upstream_gene_variant BRCA-EU 17 52977891 52977891 single base substitution C T 5_prime_UTR_variant BRCA-EU 17 52977891 52977891 single base substitution C T downstream_gene_variant BRCA-EU 17 52977891 52977891 single base substitution C T upstream_gene_variant BRCA-EU 17 52977913 52977913 single base substitution C G 5_prime_UTR_premature_start_codon_gain_variant BRCA-EU 17 52977913 52977913 single base substitution C G downstream_gene_variant BRCA-EU 17 52977913 52977913 single base substitution C G upstream_gene_variant BRCA-EU 17 52977985 52977985 single base substitution C G 5_prime_UTR_variant BRCA-EU 17 52977985 52977985 single base substitution C G downstream_gene_variant BRCA-EU 17 52977985 52977985 single base substitution C G upstream_gene_variant BRCA-EU 17 52978642 52978642 single base substitution G A downstream_gene_variant BRCA-EU 17 52978642 52978642 single base substitution G A intron_variant BRCA-EU 17 52978914 52978914 single base substitution C G downstream_gene_variant BRCA-EU 17 52978914 52978914 single base substitution C G intron_variant BRCA-EU 17 52979192 52979192 single base substitution C G downstream_gene_variant BRCA-EU 17 52979192 52979192 single base substitution C G intron_variant BRCA-EU 17 52981917 52981917 single base substitution C T downstream_gene_variant BRCA-EU 17 52981917 52981917 single base substitution C T intron_variant BRCA-EU 17 52985668 52985668 single base substitution G A intron_variant BRCA-EU 17 52987773 52987773 single base substitution C T intron_variant BRCA-EU 17 52987773 52987773 single base substitution C T upstream_gene_variant BRCA-EU 17 52988101 52988101 single base substitution A G intron_variant BRCA-EU 17 52988101 52988101 single base substitution A G upstream_gene_variant BRCA-EU 17 52988738 52988738 single base substitution G C intron_variant BRCA-EU 17 52988738 52988738 single base substitution G C upstream_gene_variant BRCA-EU 17 52990274 52990274 single base substitution G T intron_variant BRCA-EU 17 52990274 52990274 single base substitution G T upstream_gene_variant BRCA-EU 17 52991166 52991166 single base substitution C T 3_prime_UTR_variant BRCA-EU 17 52991166 52991166 single base substitution C T exon_variant BRCA-EU 17 52991166 52991166 single base substitution C T missense_variant L109F 325C>T BRCA-EU 17 52991166 52991166 single base substitution C T missense_variant L134F 400C>T BRCA-EU 17 52991166 52991166 single base substitution C T missense_variant L137F 409C>T BRCA-EU 17 52991166 52991166 single base substitution C T missense_variant L142F 424C>T BRCA-EU 17 52991166 52991166 single base substitution C T missense_variant L144F 430C>T BRCA-EU 17 52991166 52991166 single base substitution C T missense_variant L67F 199C>T BRCA-EU 17 52991166 52991166 single base substitution C T missense_variant L90F 268C>T BRCA-EU 17 52991166 52991166 single base substitution C T upstream_gene_variant BRCA-EU 17 52991473 52991473 single base substitution C T downstream_gene_variant BRCA-EU 17 52991473 52991473 single base substitution C T intron_variant BRCA-EU 17 52992292 52992292 single base substitution G T downstream_gene_variant BRCA-EU 17 52992292 52992292 single base substitution G T intron_variant BRCA-EU 17 52992306 52992306 single base substitution C T downstream_gene_variant BRCA-EU 17 52992306 52992306 single base substitution C T intron_variant BRCA-EU 17 52992847 52992847 insertion of <=200bp - T downstream_gene_variant BRCA-EU 17 52992847 52992847 insertion of <=200bp - T intron_variant BRCA-EU 17 52995862 52995862 single base substitution G A downstream_gene_variant BRCA-EU 17 52995862 52995862 single base substitution G A intron_variant BRCA-EU 17 52997460 52997460 single base substitution G A downstream_gene_variant BRCA-EU 17 52997460 52997460 single base substitution G A intron_variant BRCA-EU 17 52998761 52998761 single base substitution A G downstream_gene_variant BRCA-EU 17 52998761 52998761 single base substitution A G intron_variant BRCA-EU 17 52999043 52999043 single base substitution G T downstream_gene_variant BRCA-EU 17 52999043 52999043 single base substitution G T intron_variant BRCA-EU 17 52999899 52999899 single base substitution G A intron_variant BRCA-EU 17 53000071 53000071 single base substitution G A intron_variant BRCA-EU 17 53001097 53001097 deletion of <=200bp G - intron_variant BRCA-EU 17 53001578 53001578 single base substitution C A intron_variant BRCA-EU 17 53002575 53002575 single base substitution C G intron_variant BRCA-EU 17 53003139 53003139 single base substitution C T intron_variant BRCA-EU 17 53003161 53003161 single base substitution A T intron_variant BRCA-EU 17 53003929 53003929 single base substitution T G intron_variant BRCA-EU 17 53003934 53003934 single base substitution C G intron_variant BRCA-EU 17 53004968 53004968 single base substitution C A intron_variant BRCA-EU 17 53006019 53006019 single base substitution G A intron_variant BRCA-EU 17 53006020 53006020 single base substitution A T intron_variant BRCA-EU 17 53006174 53006174 deletion of <=200bp T - intron_variant BRCA-EU 17 53006351 53006351 single base substitution G A intron_variant BRCA-EU 17 53007362 53007362 single base substitution G A intron_variant BRCA-EU 17 53007375 53007375 single base substitution G C intron_variant BRCA-EU 17 53007406 53007406 single base substitution G T intron_variant BRCA-EU 17 53007429 53007429 single base substitution G A intron_variant BRCA-EU 17 53007429 53007429 single base substitution G A splice_region_variant BRCA-EU 17 53007642 53007642 single base substitution G C downstream_gene_variant BRCA-EU 17 53007642 53007642 single base substitution G C exon_variant BRCA-EU 17 53007642 53007642 single base substitution G C intron_variant BRCA-EU 17 53007666 53007666 single base substitution T C downstream_gene_variant BRCA-EU 17 53007666 53007666 single base substitution T C exon_variant BRCA-EU 17 53007666 53007666 single base substitution T C intron_variant BRCA-EU 17 53007670 53007670 single base substitution G C downstream_gene_variant BRCA-EU 17 53007670 53007670 single base substitution G C exon_variant BRCA-EU 17 53007670 53007670 single base substitution G C intron_variant BRCA-EU 17 53008727 53008727 single base substitution G C downstream_gene_variant BRCA-EU 17 53008727 53008727 single base substitution G C intron_variant BRCA-EU 17 53008769 53008769 single base substitution C T downstream_gene_variant BRCA-EU 17 53008769 53008769 single base substitution C T intron_variant BRCA-EU 17 53008834 53008834 single base substitution C T downstream_gene_variant BRCA-EU 17 53008834 53008834 single base substitution C T intron_variant BRCA-EU 17 53008834 53008834 single base substitution C T upstream_gene_variant BRCA-EU 17 53009161 53009161 single base substitution C G downstream_gene_variant BRCA-EU 17 53009161 53009161 single base substitution C G intron_variant BRCA-EU 17 53009161 53009161 single base substitution C G upstream_gene_variant BRCA-EU 17 53011351 53011351 single base substitution C T downstream_gene_variant BRCA-EU 17 53011351 53011351 single base substitution C T intron_variant BRCA-EU 17 53011351 53011351 single base substitution C T upstream_gene_variant BRCA-EU 17 53012087 53012087 single base substitution T C downstream_gene_variant BRCA-EU 17 53012087 53012087 single base substitution T C intron_variant BRCA-EU 17 53012087 53012087 single base substitution T C upstream_gene_variant BRCA-EU 17 53012287 53012287 single base substitution C T downstream_gene_variant BRCA-EU 17 53012287 53012287 single base substitution C T intron_variant BRCA-EU 17 53012287 53012287 single base substitution C T upstream_gene_variant BRCA-EU 17 53013819 53013820 deletion of <=200bp CA - exon_variant BRCA-EU 17 53013819 53013820 deletion of <=200bp CA - intron_variant BRCA-EU 17 53013819 53013820 deletion of <=200bp CA - upstream_gene_variant BRCA-EU 17 53014765 53014765 single base substitution A G 3_prime_UTR_variant BRCA-EU 17 53014765 53014765 single base substitution A G downstream_gene_variant BRCA-EU 17 53014765 53014765 single base substitution A G exon_variant BRCA-EU 17 53014765 53014765 single base substitution A G intron_variant BRCA-EU 17 53014765 53014765 single base substitution A G upstream_gene_variant BRCA-EU 17 53015123 53015123 single base substitution G A 3_prime_UTR_variant BRCA-EU 17 53015123 53015123 single base substitution G A downstream_gene_variant BRCA-EU 17 53015123 53015123 single base substitution G A intron_variant BRCA-EU 17 53015123 53015123 single base substitution G A upstream_gene_variant BRCA-EU 17 53015706 53015707 deletion of <=200bp TT - downstream_gene_variant BRCA-EU 17 53015706 53015707 deletion of <=200bp TT - intron_variant BRCA-EU 17 53015706 53015707 deletion of <=200bp TT - upstream_gene_variant BRCA-EU 17 53016692 53016692 single base substitution G T downstream_gene_variant BRCA-EU 17 53016692 53016692 single base substitution G T intron_variant BRCA-EU 17 53017535 53017535 single base substitution G C downstream_gene_variant BRCA-EU 17 53017535 53017535 single base substitution G C intron_variant BRCA-EU 17 53018286 53018286 single base substitution G C downstream_gene_variant BRCA-EU 17 53018286 53018286 single base substitution G C intron_variant BRCA-EU 17 53018808 53018808 single base substitution G T downstream_gene_variant BRCA-EU 17 53018808 53018808 single base substitution G T intron_variant BRCA-EU 17 53019461 53019461 single base substitution G A downstream_gene_variant BRCA-EU 17 53019461 53019461 single base substitution G A intron_variant BRCA-EU 17 53019873 53019873 single base substitution C G downstream_gene_variant BRCA-EU 17 53019873 53019873 single base substitution C G intron_variant BRCA-EU 17 53019994 53019997 deletion of <=200bp TCTC - downstream_gene_variant BRCA-EU 17 53019994 53019997 deletion of <=200bp TCTC - intron_variant BRCA-EU 17 53021505 53021505 single base substitution T C intron_variant BRCA-EU 17 53021680 53021680 single base substitution G T intron_variant BRCA-EU 17 53023131 53023131 single base substitution T G intron_variant BRCA-EU 17 53023283 53023283 single base substitution A G intron_variant BRCA-EU 17 53024374 53024374 single base substitution G A intron_variant BRCA-EU 17 53025481 53025481 single base substitution C T downstream_gene_variant BRCA-EU 17 53025481 53025481 single base substitution C T intron_variant BRCA-EU 17 53025682 53025682 single base substitution C G downstream_gene_variant BRCA-EU 17 53025682 53025682 single base substitution C G intron_variant BRCA-EU 17 53026469 53026469 single base substitution T C downstream_gene_variant BRCA-EU 17 53026469 53026469 single base substitution T C intron_variant BRCA-EU 17 53026549 53026549 single base substitution C T downstream_gene_variant BRCA-EU 17 53026549 53026549 single base substitution C T intron_variant BRCA-EU 17 53027391 53027391 deletion of <=200bp T - downstream_gene_variant BRCA-EU 17 53027391 53027391 deletion of <=200bp T - intron_variant BRCA-EU 17 53029014 53029014 single base substitution G A downstream_gene_variant BRCA-EU 17 53029014 53029014 single base substitution G A intron_variant BRCA-EU 17 53030501 53030501 single base substitution A T intron_variant BRCA-EU 17 53031091 53031091 single base substitution C T intron_variant BRCA-EU 17 53031272 53031272 single base substitution C G intron_variant BRCA-EU 17 53033664 53033664 single base substitution C T intron_variant BRCA-EU 17 53037021 53037021 single base substitution C G downstream_gene_variant BRCA-EU 17 53037021 53037021 single base substitution C G intron_variant BRCA-EU 17 53037545 53037545 single base substitution G A downstream_gene_variant BRCA-EU 17 53037545 53037545 single base substitution G A intron_variant BRCA-EU 17 53037726 53037726 deletion of <=200bp A - downstream_gene_variant BRCA-EU 17 53037726 53037726 deletion of <=200bp A - intron_variant BRCA-EU 17 53037849 53037849 single base substitution A G downstream_gene_variant BRCA-EU 17 53037849 53037849 single base substitution A G intron_variant BRCA-EU 17 53041159 53041159 insertion of <=200bp - T downstream_gene_variant BRCA-EU 17 53041166 53041166 single base substitution T A downstream_gene_variant BRCA-EU 17 53042525 53042525 single base substitution G T downstream_gene_variant BRCA-FR 17 52973017 52973017 single base substitution A C upstream_gene_variant BRCA-FR 17 52974120 52974120 single base substitution C T upstream_gene_variant BRCA-FR 17 52977616 52977616 single base substitution C G intron_variant BRCA-FR 17 52977616 52977616 single base substitution C G upstream_gene_variant BRCA-FR 17 52977634 52977634 single base substitution C T intron_variant BRCA-FR 17 52977634 52977634 single base substitution C T upstream_gene_variant BRCA-FR 17 52977985 52977985 single base substitution C G 5_prime_UTR_variant BRCA-FR 17 52977985 52977985 single base substitution C G downstream_gene_variant BRCA-FR 17 52977985 52977985 single base substitution C G upstream_gene_variant BRCA-FR 17 52978033 52978033 single base substitution C G 5_prime_UTR_premature_start_codon_gain_variant BRCA-FR 17 52978033 52978033 single base substitution C G downstream_gene_variant BRCA-FR 17 52978033 52978033 single base substitution C G upstream_gene_variant BRCA-FR 17 52978914 52978914 single base substitution C G downstream_gene_variant BRCA-FR 17 52978914 52978914 single base substitution C G intron_variant BRCA-FR 17 52979192 52979192 single base substitution C G downstream_gene_variant BRCA-FR 17 52979192 52979192 single base substitution C G intron_variant BRCA-FR 17 52979758 52979758 single base substitution C T downstream_gene_variant BRCA-FR 17 52979758 52979758 single base substitution C T intron_variant BRCA-FR 17 52988793 52988793 single base substitution C T intron_variant BRCA-FR 17 52988793 52988793 single base substitution C T upstream_gene_variant BRCA-FR 17 52992306 52992306 single base substitution C T downstream_gene_variant BRCA-FR 17 52992306 52992306 single base substitution C T intron_variant BRCA-FR 17 52993152 52993152 single base substitution C T 3_prime_UTR_variant BRCA-FR 17 52993152 52993152 single base substitution C T downstream_gene_variant BRCA-FR 17 52993152 52993152 single base substitution C T exon_variant BRCA-FR 17 52993152 52993152 single base substitution C T stop_gained R105* 313C>T BRCA-FR 17 52993152 52993152 single base substitution C T stop_gained R140* 418C>T BRCA-FR 17 52993152 52993152 single base substitution C T stop_gained R163* 487C>T BRCA-FR 17 52993152 52993152 single base substitution C T stop_gained R180* 538C>T BRCA-FR 17 52993152 52993152 single base substitution C T stop_gained R182* 544C>T BRCA-FR 17 52993152 52993152 single base substitution C T stop_gained R207* 619C>T BRCA-FR 17 52993152 52993152 single base substitution C T stop_gained R210* 628C>T BRCA-FR 17 52993152 52993152 single base substitution C T stop_gained R217* 649C>T BRCA-FR 17 53007666 53007666 single base substitution T C downstream_gene_variant BRCA-FR 17 53007666 53007666 single base substitution T C exon_variant BRCA-FR 17 53007666 53007666 single base substitution T C intron_variant BRCA-FR 17 53011384 53011384 single base substitution G C downstream_gene_variant BRCA-FR 17 53011384 53011384 single base substitution G C intron_variant BRCA-FR 17 53011384 53011384 single base substitution G C upstream_gene_variant BRCA-FR 17 53017535 53017535 single base substitution G C downstream_gene_variant BRCA-FR 17 53017535 53017535 single base substitution G C intron_variant BRCA-FR 17 53019873 53019873 single base substitution C G downstream_gene_variant BRCA-FR 17 53019873 53019873 single base substitution C G intron_variant BRCA-FR 17 53021505 53021505 single base substitution T C intron_variant BRCA-FR 17 53025481 53025481 single base substitution C T downstream_gene_variant BRCA-FR 17 53025481 53025481 single base substitution C T intron_variant BRCA-FR 17 53025682 53025682 single base substitution C G downstream_gene_variant BRCA-FR 17 53025682 53025682 single base substitution C G intron_variant BRCA-FR 17 53037545 53037545 single base substitution G A downstream_gene_variant BRCA-FR 17 53037545 53037545 single base substitution G A intron_variant BRCA-FR 17 53042525 53042525 single base substitution G T downstream_gene_variant BRCA-UK 17 52988843 52988843 single base substitution C T intron_variant BRCA-UK 17 52988843 52988843 single base substitution C T upstream_gene_variant BRCA-US 17 53026927 53026927 single base substitution A G 3_prime_UTR_variant BRCA-US 17 53026927 53026927 single base substitution A G downstream_gene_variant BRCA-US 17 53026927 53026927 single base substitution A G exon_variant BRCA-US 17 53026927 53026927 single base substitution A G missense_variant T299A 895A>G BRCA-US 17 53026927 53026927 single base substitution A G missense_variant T334A 1000A>G BRCA-US 17 53026927 53026927 single base substitution A G missense_variant T400A 1198A>G BRCA-US 17 53026927 53026927 single base substitution A G missense_variant T404A 1210A>G BRCA-US 17 53026927 53026927 single base substitution A G missense_variant T411A 1231A>G BRCA-US 17 53026927 53026927 single base substitution A G missense_variant T66A 196A>G BTCA-JP 17 52978364 52978364 single base substitution A T downstream_gene_variant BTCA-JP 17 52978364 52978364 single base substitution A T intron_variant BTCA-JP 17 52978364 52978364 single base substitution A T upstream_gene_variant BTCA-JP 17 52991148 52991148 single base substitution G A 3_prime_UTR_variant BTCA-JP 17 52991148 52991148 single base substitution G A exon_variant BTCA-JP 17 52991148 52991148 single base substitution G A missense_variant E103K 307G>A BTCA-JP 17 52991148 52991148 single base substitution G A missense_variant E128K 382G>A BTCA-JP 17 52991148 52991148 single base substitution G A missense_variant E131K 391G>A BTCA-JP 17 52991148 52991148 single base substitution G A missense_variant E136K 406G>A BTCA-JP 17 52991148 52991148 single base substitution G A missense_variant E138K 412G>A BTCA-JP 17 52991148 52991148 single base substitution G A missense_variant E61K 181G>A BTCA-JP 17 52991148 52991148 single base substitution G A missense_variant E84K 250G>A BTCA-JP 17 52991148 52991148 single base substitution G A upstream_gene_variant BTCA-JP 17 52991157 52991157 single base substitution G A 3_prime_UTR_variant BTCA-JP 17 52991157 52991157 single base substitution G A exon_variant BTCA-JP 17 52991157 52991157 single base substitution G A missense_variant E106K 316G>A BTCA-JP 17 52991157 52991157 single base substitution G A missense_variant E131K 391G>A BTCA-JP 17 52991157 52991157 single base substitution G A missense_variant E134K 400G>A BTCA-JP 17 52991157 52991157 single base substitution G A missense_variant E139K 415G>A BTCA-JP 17 52991157 52991157 single base substitution G A missense_variant E141K 421G>A BTCA-JP 17 52991157 52991157 single base substitution G A missense_variant E64K 190G>A BTCA-JP 17 52991157 52991157 single base substitution G A missense_variant E87K 259G>A BTCA-JP 17 52991157 52991157 single base substitution G A upstream_gene_variant BTCA-JP 17 53014243 53014243 single base substitution T C downstream_gene_variant BTCA-JP 17 53014243 53014243 single base substitution T C intron_variant BTCA-JP 17 53014243 53014243 single base substitution T C upstream_gene_variant BTCA-JP 17 53016379 53016379 single base substitution C A downstream_gene_variant BTCA-JP 17 53016379 53016379 single base substitution C A splice_region_variant BTCA-JP 17 53027390 53027390 single base substitution C G downstream_gene_variant BTCA-JP 17 53027390 53027390 single base substitution C G intron_variant CESC-US 17 53007533 53007533 single base substitution G A 3_prime_UTR_variant CESC-US 17 53007533 53007533 single base substitution G A exon_variant CESC-US 17 53007533 53007533 single base substitution G A missense_variant E162K 484G>A CESC-US 17 53007533 53007533 single base substitution G A missense_variant E197K 589G>A CESC-US 17 53007533 53007533 single base substitution G A missense_variant E220K 658G>A CESC-US 17 53007533 53007533 single base substitution G A missense_variant E267K 799G>A CESC-US 17 53007533 53007533 single base substitution G A missense_variant E274K 820G>A CESC-US 17 53016346 53016346 single base substitution G C 3_prime_UTR_variant CESC-US 17 53016346 53016346 single base substitution G C downstream_gene_variant CESC-US 17 53016346 53016346 single base substitution G C exon_variant CESC-US 17 53016346 53016346 single base substitution G C missense_variant M20I 60G>C CESC-US 17 53016346 53016346 single base substitution G C missense_variant M253I 759G>C CESC-US 17 53016346 53016346 single base substitution G C missense_variant M288I 864G>C CESC-US 17 53016346 53016346 single base substitution G C missense_variant M358I 1074G>C CESC-US 17 53016346 53016346 single base substitution G C missense_variant M365I 1095G>C CLLE-ES 17 52974646 52974646 single base substitution G A upstream_gene_variant CLLE-ES 17 52976792 52976792 single base substitution G T 5_prime_UTR_variant CLLE-ES 17 52976792 52976792 single base substitution G T upstream_gene_variant CLLE-ES 17 52981645 52981645 single base substitution G A downstream_gene_variant CLLE-ES 17 52981645 52981645 single base substitution G A intron_variant CLLE-ES 17 52990716 52990716 single base substitution T C intron_variant CLLE-ES 17 52990716 52990716 single base substitution T C upstream_gene_variant CLLE-ES 17 52993044 52993044 single base substitution C T downstream_gene_variant CLLE-ES 17 52993044 52993044 single base substitution C T intron_variant CLLE-ES 17 53043005 53043005 single base substitution C T downstream_gene_variant COAD-US 17 52978248 52978248 single base substitution C A 5_prime_UTR_variant COAD-US 17 52978248 52978248 single base substitution C A downstream_gene_variant COAD-US 17 52978248 52978248 single base substitution C A exon_variant COAD-US 17 52978248 52978248 single base substitution C A synonymous_variant R4R 10C>A COAD-US 17 52978248 52978248 single base substitution C A synonymous_variant R6R 16C>A COAD-US 17 52978248 52978248 single base substitution C A synonymous_variant R8R 22C>A COAD-US 17 52978248 52978248 single base substitution C A upstream_gene_variant COAD-US 17 52990045 52990045 single base substitution C T 3_prime_UTR_variant COAD-US 17 52990045 52990045 single base substitution C T exon_variant COAD-US 17 52990045 52990045 single base substitution C T intron_variant COAD-US 17 52990045 52990045 single base substitution C T splice_region_variant COAD-US 17 52990045 52990045 single base substitution C T stop_gained Q4* 10C>T COAD-US 17 52990045 52990045 single base substitution C T stop_gained Q46* 136C>T COAD-US 17 52990045 52990045 single base substitution C T stop_gained Q71* 211C>T COAD-US 17 52990045 52990045 single base substitution C T stop_gained Q79* 235C>T COAD-US 17 52990045 52990045 single base substitution C T stop_gained Q81* 241C>T COAD-US 17 52990045 52990045 single base substitution C T upstream_gene_variant COAD-US 17 52991147 52991147 single base substitution C T 3_prime_UTR_variant COAD-US 17 52991147 52991147 single base substitution C T exon_variant COAD-US 17 52991147 52991147 single base substitution C T synonymous_variant S102S 306C>T COAD-US 17 52991147 52991147 single base substitution C T synonymous_variant S127S 381C>T COAD-US 17 52991147 52991147 single base substitution C T synonymous_variant S130S 390C>T COAD-US 17 52991147 52991147 single base substitution C T synonymous_variant S135S 405C>T COAD-US 17 52991147 52991147 single base substitution C T synonymous_variant S137S 411C>T COAD-US 17 52991147 52991147 single base substitution C T synonymous_variant S60S 180C>T COAD-US 17 52991147 52991147 single base substitution C T synonymous_variant S83S 249C>T COAD-US 17 52991147 52991147 single base substitution C T upstream_gene_variant COAD-US 17 52993153 52993153 single base substitution G C 3_prime_UTR_variant COAD-US 17 52993153 52993153 single base substitution G C downstream_gene_variant COAD-US 17 52993153 52993153 single base substitution G C exon_variant COAD-US 17 52993153 52993153 single base substitution G C missense_variant R105P 314G>C COAD-US 17 52993153 52993153 single base substitution G C missense_variant R140P 419G>C COAD-US 17 52993153 52993153 single base substitution G C missense_variant R163P 488G>C COAD-US 17 52993153 52993153 single base substitution G C missense_variant R180P 539G>C COAD-US 17 52993153 52993153 single base substitution G C missense_variant R182P 545G>C COAD-US 17 52993153 52993153 single base substitution G C missense_variant R207P 620G>C COAD-US 17 52993153 52993153 single base substitution G C missense_variant R210P 629G>C COAD-US 17 52993153 52993153 single base substitution G C missense_variant R217P 650G>C COAD-US 17 52993177 52993177 single base substitution A G 3_prime_UTR_variant COAD-US 17 52993177 52993177 single base substitution A G downstream_gene_variant COAD-US 17 52993177 52993177 single base substitution A G exon_variant COAD-US 17 52993177 52993177 single base substitution A G missense_variant E113G 338A>G COAD-US 17 52993177 52993177 single base substitution A G missense_variant E148G 443A>G COAD-US 17 52993177 52993177 single base substitution A G missense_variant E171G 512A>G COAD-US 17 52993177 52993177 single base substitution A G missense_variant E188G 563A>G COAD-US 17 52993177 52993177 single base substitution A G missense_variant E190G 569A>G COAD-US 17 52993177 52993177 single base substitution A G missense_variant E215G 644A>G COAD-US 17 52993177 52993177 single base substitution A G missense_variant E218G 653A>G COAD-US 17 52993177 52993177 single base substitution A G missense_variant E225G 674A>G COAD-US 17 53007453 53007453 single base substitution G A 3_prime_UTR_variant COAD-US 17 53007453 53007453 single base substitution G A exon_variant COAD-US 17 53007453 53007453 single base substitution G A missense_variant R135Q 404G>A COAD-US 17 53007453 53007453 single base substitution G A missense_variant R170Q 509G>A COAD-US 17 53007453 53007453 single base substitution G A missense_variant R193Q 578G>A COAD-US 17 53007453 53007453 single base substitution G A missense_variant R240Q 719G>A COAD-US 17 53007453 53007453 single base substitution G A missense_variant R247Q 740G>A COCA-CN 17 52981024 52981024 single base substitution T G downstream_gene_variant COCA-CN 17 52981024 52981024 single base substitution T G intron_variant COCA-CN 17 52992072 52992072 single base substitution A T 3_prime_UTR_variant COCA-CN 17 52992072 52992072 single base substitution A T downstream_gene_variant COCA-CN 17 52992072 52992072 single base substitution A T exon_variant COCA-CN 17 52992072 52992072 single base substitution A T intron_variant COCA-CN 17 52992072 52992072 single base substitution A T stop_gained K114* 340A>T COCA-CN 17 52992072 52992072 single base substitution A T stop_gained K137* 409A>T COCA-CN 17 52992072 52992072 single base substitution A T stop_gained K156* 466A>T COCA-CN 17 52992072 52992072 single base substitution A T stop_gained K181* 541A>T COCA-CN 17 52992072 52992072 single base substitution A T stop_gained K184* 550A>T COCA-CN 17 52992072 52992072 single base substitution A T stop_gained K191* 571A>T COCA-CN 17 53007655 53007655 single base substitution T G downstream_gene_variant COCA-CN 17 53007655 53007655 single base substitution T G exon_variant COCA-CN 17 53007655 53007655 single base substitution T G intron_variant COCA-CN 17 53013308 53013308 single base substitution A G intron_variant COCA-CN 17 53013308 53013308 single base substitution A G upstream_gene_variant COCA-CN 17 53013318 53013318 single base substitution T C intron_variant COCA-CN 17 53013318 53013318 single base substitution T C upstream_gene_variant COCA-CN 17 53016215 53016215 single base substitution A T downstream_gene_variant COCA-CN 17 53016215 53016215 single base substitution A T exon_variant COCA-CN 17 53016215 53016215 single base substitution A T intron_variant COCA-CN 17 53016215 53016215 single base substitution A T upstream_gene_variant COCA-CN 17 53024783 53024783 single base substitution C T downstream_gene_variant COCA-CN 17 53024783 53024783 single base substitution C T intron_variant EOPC-DE 17 52997877 52997877 single base substitution G T downstream_gene_variant EOPC-DE 17 52997877 52997877 single base substitution G T intron_variant EOPC-DE 17 53008870 53008870 single base substitution G A downstream_gene_variant EOPC-DE 17 53008870 53008870 single base substitution G A intron_variant EOPC-DE 17 53008870 53008870 single base substitution G A upstream_gene_variant ESAD-UK 17 52972641 52972641 single base substitution C A upstream_gene_variant ESAD-UK 17 52973014 52973014 insertion of <=200bp - TA upstream_gene_variant ESAD-UK 17 52973017 52973017 single base substitution A C upstream_gene_variant ESAD-UK 17 52973158 52973158 single base substitution C T upstream_gene_variant ESAD-UK 17 52973846 52973846 single base substitution G A upstream_gene_variant ESAD-UK 17 52974395 52974395 single base substitution G T upstream_gene_variant ESAD-UK 17 52974511 52974511 single base substitution G A upstream_gene_variant ESAD-UK 17 52975325 52975325 single base substitution C T upstream_gene_variant ESAD-UK 17 52976178 52976178 single base substitution T C upstream_gene_variant ESAD-UK 17 52977529 52977529 single base substitution C A 5_prime_UTR_variant ESAD-UK 17 52977529 52977529 single base substitution C A exon_variant ESAD-UK 17 52977529 52977529 single base substitution C A upstream_gene_variant ESAD-UK 17 52978099 52978099 single base substitution G T 5_prime_UTR_variant ESAD-UK 17 52978099 52978099 single base substitution G T downstream_gene_variant ESAD-UK 17 52978099 52978099 single base substitution G T upstream_gene_variant ESAD-UK 17 52979145 52979145 single base substitution C T downstream_gene_variant ESAD-UK 17 52979145 52979145 single base substitution C T intron_variant ESAD-UK 17 52979667 52979667 single base substitution T C downstream_gene_variant ESAD-UK 17 52979667 52979667 single base substitution T C intron_variant ESAD-UK 17 52979784 52979784 single base substitution G A downstream_gene_variant ESAD-UK 17 52979784 52979784 single base substitution G A intron_variant ESAD-UK 17 52981431 52981431 single base substitution C A downstream_gene_variant ESAD-UK 17 52981431 52981431 single base substitution C A intron_variant ESAD-UK 17 52984061 52984061 single base substitution A G intron_variant ESAD-UK 17 52984077 52984077 single base substitution G A intron_variant ESAD-UK 17 52984573 52984573 single base substitution G A intron_variant ESAD-UK 17 52986316 52986316 single base substitution T C intron_variant ESAD-UK 17 52986316 52986316 single base substitution T C upstream_gene_variant ESAD-UK 17 52988819 52988819 single base substitution C T intron_variant ESAD-UK 17 52988819 52988819 single base substitution C T upstream_gene_variant ESAD-UK 17 52989311 52989311 single base substitution G A intron_variant ESAD-UK 17 52989311 52989311 single base substitution G A upstream_gene_variant ESAD-UK 17 52990764 52990764 single base substitution C A intron_variant ESAD-UK 17 52990764 52990764 single base substitution C A upstream_gene_variant ESAD-UK 17 52993835 52993835 single base substitution C T 3_prime_UTR_variant ESAD-UK 17 52993835 52993835 single base substitution C T downstream_gene_variant ESAD-UK 17 52993835 52993835 single base substitution C T intron_variant ESAD-UK 17 52995085 52995085 single base substitution G C downstream_gene_variant ESAD-UK 17 52995085 52995085 single base substitution G C intron_variant ESAD-UK 17 52995518 52995518 single base substitution G A downstream_gene_variant ESAD-UK 17 52995518 52995518 single base substitution G A intron_variant ESAD-UK 17 52996266 52996266 single base substitution G T downstream_gene_variant ESAD-UK 17 52996266 52996266 single base substitution G T intron_variant ESAD-UK 17 52996482 52996482 single base substitution C G downstream_gene_variant ESAD-UK 17 52996482 52996482 single base substitution C G intron_variant ESAD-UK 17 52996635 52996635 single base substitution C T downstream_gene_variant ESAD-UK 17 52996635 52996635 single base substitution C T intron_variant ESAD-UK 17 52996891 52996891 single base substitution A G downstream_gene_variant ESAD-UK 17 52996891 52996891 single base substitution A G intron_variant ESAD-UK 17 53000895 53000895 single base substitution A T intron_variant ESAD-UK 17 53002404 53002404 single base substitution A T intron_variant ESAD-UK 17 53003282 53003282 insertion of <=200bp - ACAAC intron_variant ESAD-UK 17 53003283 53003283 single base substitution A C intron_variant ESAD-UK 17 53006847 53006847 single base substitution C A intron_variant ESAD-UK 17 53007492 53007492 single base substitution T C 3_prime_UTR_variant ESAD-UK 17 53007492 53007492 single base substitution T C exon_variant ESAD-UK 17 53007492 53007492 single base substitution T C missense_variant V148A 443T>C ESAD-UK 17 53007492 53007492 single base substitution T C missense_variant V183A 548T>C ESAD-UK 17 53007492 53007492 single base substitution T C missense_variant V206A 617T>C ESAD-UK 17 53007492 53007492 single base substitution T C missense_variant V253A 758T>C ESAD-UK 17 53007492 53007492 single base substitution T C missense_variant V260A 779T>C ESAD-UK 17 53010372 53010372 single base substitution G A downstream_gene_variant ESAD-UK 17 53010372 53010372 single base substitution G A intron_variant ESAD-UK 17 53010372 53010372 single base substitution G A upstream_gene_variant ESAD-UK 17 53011255 53011255 single base substitution C T downstream_gene_variant ESAD-UK 17 53011255 53011255 single base substitution C T intron_variant ESAD-UK 17 53011255 53011255 single base substitution C T upstream_gene_variant ESAD-UK 17 53015583 53015583 single base substitution A T downstream_gene_variant ESAD-UK 17 53015583 53015583 single base substitution A T intron_variant ESAD-UK 17 53015583 53015583 single base substitution A T upstream_gene_variant ESAD-UK 17 53016229 53016229 single base substitution A G downstream_gene_variant ESAD-UK 17 53016229 53016229 single base substitution A G exon_variant ESAD-UK 17 53016229 53016229 single base substitution A G intron_variant ESAD-UK 17 53016229 53016229 single base substitution A G upstream_gene_variant ESAD-UK 17 53018295 53018295 single base substitution C T downstream_gene_variant ESAD-UK 17 53018295 53018295 single base substitution C T intron_variant ESAD-UK 17 53020963 53020963 single base substitution C T intron_variant ESAD-UK 17 53021062 53021062 single base substitution G T intron_variant ESAD-UK 17 53023631 53023631 single base substitution T G intron_variant ESAD-UK 17 53024654 53024654 single base substitution C G 3_prime_UTR_variant ESAD-UK 17 53024654 53024654 single base substitution C G exon_variant ESAD-UK 17 53024654 53024654 single base substitution C G stop_gained S276* 827C>G ESAD-UK 17 53024654 53024654 single base substitution C G stop_gained S311* 932C>G ESAD-UK 17 53024654 53024654 single base substitution C G stop_gained S381* 1142C>G ESAD-UK 17 53024654 53024654 single base substitution C G stop_gained S388* 1163C>G ESAD-UK 17 53024654 53024654 single base substitution C G stop_gained S43* 128C>G ESAD-UK 17 53026552 53026552 single base substitution C T downstream_gene_variant ESAD-UK 17 53026552 53026552 single base substitution C T intron_variant ESAD-UK 17 53027481 53027481 single base substitution C T 3_prime_UTR_variant ESAD-UK 17 53027481 53027481 single base substitution C T downstream_gene_variant ESAD-UK 17 53027481 53027481 single base substitution C T exon_variant ESAD-UK 17 53027481 53027481 single base substitution C T missense_variant T110I 329C>T ESAD-UK 17 53027481 53027481 single base substitution C T missense_variant T343I 1028C>T ESAD-UK 17 53027481 53027481 single base substitution C T missense_variant T378I 1133C>T ESAD-UK 17 53027481 53027481 single base substitution C T missense_variant T444I 1331C>T ESAD-UK 17 53027481 53027481 single base substitution C T missense_variant T448I 1343C>T ESAD-UK 17 53027481 53027481 single base substitution C T missense_variant T455I 1364C>T ESAD-UK 17 53029852 53029852 single base substitution G A intron_variant ESAD-UK 17 53030802 53030802 single base substitution C A intron_variant ESAD-UK 17 53031051 53031051 single base substitution A C intron_variant ESAD-UK 17 53032238 53032238 insertion of <=200bp - A intron_variant ESAD-UK 17 53032412 53032412 single base substitution A G intron_variant ESAD-UK 17 53033452 53033452 deletion of <=200bp A - intron_variant ESAD-UK 17 53033690 53033690 single base substitution G A intron_variant ESAD-UK 17 53036588 53036588 insertion of <=200bp - T intron_variant ESAD-UK 17 53036614 53036628 deletion of <=200bp CTGTATATATGAATG - intron_variant ESAD-UK 17 53036631 53036631 deletion of <=200bp G - intron_variant ESAD-UK 17 53037092 53037092 single base substitution C T downstream_gene_variant ESAD-UK 17 53037092 53037092 single base substitution C T intron_variant ESAD-UK 17 53038142 53038142 single base substitution C T downstream_gene_variant ESAD-UK 17 53038142 53038142 single base substitution C T intron_variant ESAD-UK 17 53041036 53041036 single base substitution A T downstream_gene_variant ESAD-UK 17 53043334 53043334 single base substitution C A downstream_gene_variant ESCA-CN 17 52992016 52992016 single base substitution C G 3_prime_UTR_variant ESCA-CN 17 52992016 52992016 single base substitution C G downstream_gene_variant ESCA-CN 17 52992016 52992016 single base substitution C G exon_variant ESCA-CN 17 52992016 52992016 single base substitution C G intron_variant ESCA-CN 17 52992016 52992016 single base substitution C G stop_gained S118* 353C>G ESCA-CN 17 52992016 52992016 single base substitution C G stop_gained S137* 410C>G ESCA-CN 17 52992016 52992016 single base substitution C G stop_gained S162* 485C>G ESCA-CN 17 52992016 52992016 single base substitution C G stop_gained S165* 494C>G ESCA-CN 17 52992016 52992016 single base substitution C G stop_gained S172* 515C>G ESCA-CN 17 52992016 52992016 single base substitution C G stop_gained S95* 284C>G KIRC-US 17 53014035 53014035 single base substitution T C 3_prime_UTR_variant KIRC-US 17 53014035 53014035 single base substitution T C exon_variant KIRC-US 17 53014035 53014035 single base substitution T C synonymous_variant L182L 544T>C KIRC-US 17 53014035 53014035 single base substitution T C synonymous_variant L217L 649T>C KIRC-US 17 53014035 53014035 single base substitution T C synonymous_variant L240L 718T>C KIRC-US 17 53014035 53014035 single base substitution T C synonymous_variant L287L 859T>C KIRC-US 17 53014035 53014035 single base substitution T C synonymous_variant L294L 880T>C KIRC-US 17 53014035 53014035 single base substitution T C upstream_gene_variant KIRC-US 17 53027421 53027421 single base substitution A G 3_prime_UTR_variant KIRC-US 17 53027421 53027421 single base substitution A G downstream_gene_variant KIRC-US 17 53027421 53027421 single base substitution A G exon_variant KIRC-US 17 53027421 53027421 single base substitution A G missense_variant D323G 968A>G KIRC-US 17 53027421 53027421 single base substitution A G missense_variant D358G 1073A>G KIRC-US 17 53027421 53027421 single base substitution A G missense_variant D424G 1271A>G KIRC-US 17 53027421 53027421 single base substitution A G missense_variant D428G 1283A>G KIRC-US 17 53027421 53027421 single base substitution A G missense_variant D435G 1304A>G KIRC-US 17 53027421 53027421 single base substitution A G missense_variant D90G 269A>G KIRC-US 17 53040153 53040153 single base substitution A G downstream_gene_variant LAML-KR 17 53014457 53014457 single base substitution G T downstream_gene_variant LAML-KR 17 53014457 53014457 single base substitution G T intron_variant LAML-KR 17 53014457 53014457 single base substitution G T upstream_gene_variant LAML-KR 17 53036109 53036109 single base substitution A G intron_variant LAML-KR 17 53036996 53036996 single base substitution G T downstream_gene_variant LAML-KR 17 53036996 53036996 single base substitution G T intron_variant LICA-CN 17 52991162 52991162 single base substitution A G 3_prime_UTR_variant LICA-CN 17 52991162 52991162 single base substitution A G exon_variant LICA-CN 17 52991162 52991162 single base substitution A G synonymous_variant V107V 321A>G LICA-CN 17 52991162 52991162 single base substitution A G synonymous_variant V132V 396A>G LICA-CN 17 52991162 52991162 single base substitution A G synonymous_variant V135V 405A>G LICA-CN 17 52991162 52991162 single base substitution A G synonymous_variant V140V 420A>G LICA-CN 17 52991162 52991162 single base substitution A G synonymous_variant V142V 426A>G LICA-CN 17 52991162 52991162 single base substitution A G synonymous_variant V65V 195A>G LICA-CN 17 52991162 52991162 single base substitution A G synonymous_variant V88V 264A>G LICA-CN 17 52991162 52991162 single base substitution A G upstream_gene_variant LICA-FR 17 52973270 52973270 single base substitution G C upstream_gene_variant LICA-FR 17 52978428 52978428 single base substitution C T downstream_gene_variant LICA-FR 17 52978428 52978428 single base substitution C T intron_variant LICA-FR 17 52978428 52978428 single base substitution C T upstream_gene_variant LICA-FR 17 52981574 52981574 insertion of <=200bp - A downstream_gene_variant LICA-FR 17 52981574 52981574 insertion of <=200bp - A intron_variant LICA-FR 17 52982079 52982079 single base substitution G T downstream_gene_variant LICA-FR 17 52982079 52982079 single base substitution G T intron_variant LICA-FR 17 52990614 52990614 single base substitution A G intron_variant LICA-FR 17 52990614 52990614 single base substitution A G upstream_gene_variant LICA-FR 17 52997826 52997826 single base substitution A G downstream_gene_variant LICA-FR 17 52997826 52997826 single base substitution A G intron_variant LICA-FR 17 52998714 52998714 single base substitution A G downstream_gene_variant LICA-FR 17 52998714 52998714 single base substitution A G intron_variant LICA-FR 17 53012328 53012328 single base substitution C G downstream_gene_variant LICA-FR 17 53012328 53012328 single base substitution C G intron_variant LICA-FR 17 53012328 53012328 single base substitution C G upstream_gene_variant LICA-FR 17 53019640 53019640 single base substitution G T downstream_gene_variant LICA-FR 17 53019640 53019640 single base substitution G T intron_variant LICA-FR 17 53029990 53029990 single base substitution A C intron_variant LICA-FR 17 53029997 53029997 single base substitution A G intron_variant LICA-FR 17 53030346 53030346 single base substitution T G intron_variant LICA-FR 17 53036159 53036159 single base substitution T C intron_variant LICA-FR 17 53038466 53038466 single base substitution A C downstream_gene_variant LICA-FR 17 53038466 53038466 single base substitution A C intron_variant LICA-FR 17 53040247 53040247 insertion of <=200bp - AT downstream_gene_variant LIHC-US 17 52991114 52991114 single base substitution G C 3_prime_UTR_variant LIHC-US 17 52991114 52991114 single base substitution G C exon_variant LIHC-US 17 52991114 52991114 single base substitution G C missense_variant W116C 348G>C LIHC-US 17 52991114 52991114 single base substitution G C missense_variant W119C 357G>C LIHC-US 17 52991114 52991114 single base substitution G C missense_variant W124C 372G>C LIHC-US 17 52991114 52991114 single base substitution G C missense_variant W126C 378G>C LIHC-US 17 52991114 52991114 single base substitution G C missense_variant W49C 147G>C LIHC-US 17 52991114 52991114 single base substitution G C missense_variant W72C 216G>C LIHC-US 17 52991114 52991114 single base substitution G C missense_variant W91C 273G>C LIHC-US 17 52991114 52991114 single base substitution G C upstream_gene_variant LIHC-US 17 53027430 53027430 single base substitution C T 3_prime_UTR_variant LIHC-US 17 53027430 53027430 single base substitution C T downstream_gene_variant LIHC-US 17 53027430 53027430 single base substitution C T exon_variant LIHC-US 17 53027430 53027430 single base substitution C T missense_variant P326L 977C>T LIHC-US 17 53027430 53027430 single base substitution C T missense_variant P361L 1082C>T LIHC-US 17 53027430 53027430 single base substitution C T missense_variant P427L 1280C>T LIHC-US 17 53027430 53027430 single base substitution C T missense_variant P431L 1292C>T LIHC-US 17 53027430 53027430 single base substitution C T missense_variant P438L 1313C>T LIHC-US 17 53027430 53027430 single base substitution C T missense_variant P93L 278C>T LINC-JP 17 52974354 52974354 deletion of <=200bp A - upstream_gene_variant LINC-JP 17 52988073 52988073 single base substitution A G intron_variant LINC-JP 17 52988073 52988073 single base substitution A G upstream_gene_variant LINC-JP 17 52998028 52998028 single base substitution A G downstream_gene_variant LINC-JP 17 52998028 52998028 single base substitution A G intron_variant LINC-JP 17 53000806 53000806 single base substitution A G intron_variant LINC-JP 17 53011053 53011053 single base substitution T G downstream_gene_variant LINC-JP 17 53011053 53011053 single base substitution T G intron_variant LINC-JP 17 53011053 53011053 single base substitution T G upstream_gene_variant LINC-JP 17 53011508 53011508 single base substitution C A downstream_gene_variant LINC-JP 17 53011508 53011508 single base substitution C A intron_variant LINC-JP 17 53011508 53011508 single base substitution C A upstream_gene_variant LINC-JP 17 53014458 53014458 single base substitution C T downstream_gene_variant LINC-JP 17 53014458 53014458 single base substitution C T intron_variant LINC-JP 17 53014458 53014458 single base substitution C T upstream_gene_variant LINC-JP 17 53035154 53035154 single base substitution T C intron_variant LINC-JP 17 53035656 53035656 single base substitution T C intron_variant LINC-JP 17 53040317 53040317 single base substitution G A downstream_gene_variant LINC-JP 17 53041394 53041394 single base substitution T G downstream_gene_variant LINC-JP 17 53041407 53041407 single base substitution T A downstream_gene_variant LINC-JP 17 53041417 53041417 single base substitution T C downstream_gene_variant LIRI-JP 17 52972133 52972133 single base substitution G A upstream_gene_variant LIRI-JP 17 52972811 52972811 single base substitution T G upstream_gene_variant LIRI-JP 17 52973034 52973034 single base substitution A G upstream_gene_variant LIRI-JP 17 52973538 52973538 single base substitution A T upstream_gene_variant LIRI-JP 17 52978576 52978576 single base substitution G T 5_prime_UTR_variant LIRI-JP 17 52978576 52978576 single base substitution G T downstream_gene_variant LIRI-JP 17 52978576 52978576 single base substitution G T intron_variant LIRI-JP 17 52978829 52978829 single base substitution G T downstream_gene_variant LIRI-JP 17 52978829 52978829 single base substitution G T intron_variant LIRI-JP 17 52980166 52980166 single base substitution T C downstream_gene_variant LIRI-JP 17 52980166 52980166 single base substitution T C intron_variant LIRI-JP 17 52980741 52980756 deletion of <=200bp CTTCTAGGTAGCTGCT - downstream_gene_variant LIRI-JP 17 52980741 52980756 deletion of <=200bp CTTCTAGGTAGCTGCT - intron_variant LIRI-JP 17 52980744 52980744 single base substitution C G downstream_gene_variant LIRI-JP 17 52980744 52980744 single base substitution C G intron_variant LIRI-JP 17 52982819 52982819 single base substitution A G downstream_gene_variant LIRI-JP 17 52982819 52982819 single base substitution A G intron_variant LIRI-JP 17 52984550 52984550 single base substitution A G intron_variant LIRI-JP 17 52984813 52984813 single base substitution C T intron_variant LIRI-JP 17 52985252 52985252 single base substitution T C intron_variant LIRI-JP 17 52985688 52985688 single base substitution T G intron_variant LIRI-JP 17 52987193 52987193 single base substitution G T intron_variant LIRI-JP 17 52987193 52987193 single base substitution G T upstream_gene_variant LIRI-JP 17 52987904 52987904 single base substitution C T intron_variant LIRI-JP 17 52987904 52987904 single base substitution C T upstream_gene_variant LIRI-JP 17 52989327 52989327 single base substitution A G intron_variant LIRI-JP 17 52989327 52989327 single base substitution A G upstream_gene_variant LIRI-JP 17 52989330 52989330 deletion of <=200bp T - intron_variant LIRI-JP 17 52989330 52989330 deletion of <=200bp T - upstream_gene_variant LIRI-JP 17 52989509 52989509 single base substitution A T intron_variant LIRI-JP 17 52989509 52989509 single base substitution A T upstream_gene_variant LIRI-JP 17 52989897 52989897 single base substitution T G intron_variant LIRI-JP 17 52989897 52989897 single base substitution T G upstream_gene_variant LIRI-JP 17 52992284 52992284 single base substitution A G downstream_gene_variant LIRI-JP 17 52992284 52992284 single base substitution A G intron_variant LIRI-JP 17 52992520 52992520 single base substitution T G downstream_gene_variant LIRI-JP 17 52992520 52992520 single base substitution T G intron_variant LIRI-JP 17 52993796 52993796 single base substitution A T 3_prime_UTR_variant LIRI-JP 17 52993796 52993796 single base substitution A T downstream_gene_variant LIRI-JP 17 52993796 52993796 single base substitution A T intron_variant LIRI-JP 17 52994865 52994865 single base substitution T C downstream_gene_variant LIRI-JP 17 52994865 52994865 single base substitution T C intron_variant LIRI-JP 17 52996035 52996035 single base substitution G T downstream_gene_variant LIRI-JP 17 52996035 52996035 single base substitution G T intron_variant LIRI-JP 17 52996207 52996207 single base substitution A G downstream_gene_variant LIRI-JP 17 52996207 52996207 single base substitution A G intron_variant LIRI-JP 17 52996720 52996720 single base substitution A C downstream_gene_variant LIRI-JP 17 52996720 52996720 single base substitution A C intron_variant LIRI-JP 17 52998511 52998511 single base substitution C T downstream_gene_variant LIRI-JP 17 52998511 52998511 single base substitution C T intron_variant LIRI-JP 17 52999089 52999089 single base substitution C G downstream_gene_variant LIRI-JP 17 52999089 52999089 single base substitution C G intron_variant LIRI-JP 17 52999483 52999483 single base substitution C T downstream_gene_variant LIRI-JP 17 52999483 52999483 single base substitution C T intron_variant LIRI-JP 17 53001245 53001245 single base substitution T C intron_variant LIRI-JP 17 53001264 53001264 single base substitution G A intron_variant LIRI-JP 17 53001492 53001492 single base substitution A C intron_variant LIRI-JP 17 53006396 53006396 single base substitution A G intron_variant LIRI-JP 17 53007514 53007514 single base substitution T A 3_prime_UTR_variant LIRI-JP 17 53007514 53007514 single base substitution T A exon_variant LIRI-JP 17 53007514 53007514 single base substitution T A synonymous_variant V155V 465T>A LIRI-JP 17 53007514 53007514 single base substitution T A synonymous_variant V190V 570T>A LIRI-JP 17 53007514 53007514 single base substitution T A synonymous_variant V213V 639T>A LIRI-JP 17 53007514 53007514 single base substitution T A synonymous_variant V260V 780T>A LIRI-JP 17 53007514 53007514 single base substitution T A synonymous_variant V267V 801T>A LIRI-JP 17 53008003 53008003 single base substitution C A downstream_gene_variant LIRI-JP 17 53008003 53008003 single base substitution C A intron_variant LIRI-JP 17 53008426 53008426 single base substitution T A downstream_gene_variant LIRI-JP 17 53008426 53008426 single base substitution T A intron_variant LIRI-JP 17 53009341 53009341 single base substitution T G downstream_gene_variant LIRI-JP 17 53009341 53009341 single base substitution T G intron_variant LIRI-JP 17 53009341 53009341 single base substitution T G upstream_gene_variant LIRI-JP 17 53009711 53009711 single base substitution T A downstream_gene_variant LIRI-JP 17 53009711 53009711 single base substitution T A intron_variant LIRI-JP 17 53009711 53009711 single base substitution T A upstream_gene_variant LIRI-JP 17 53010907 53010907 single base substitution C T downstream_gene_variant LIRI-JP 17 53010907 53010907 single base substitution C T intron_variant LIRI-JP 17 53010907 53010907 single base substitution C T upstream_gene_variant LIRI-JP 17 53012154 53012154 single base substitution C T downstream_gene_variant LIRI-JP 17 53012154 53012154 single base substitution C T intron_variant LIRI-JP 17 53012154 53012154 single base substitution C T upstream_gene_variant LIRI-JP 17 53012271 53012271 single base substitution G A downstream_gene_variant LIRI-JP 17 53012271 53012271 single base substitution G A intron_variant LIRI-JP 17 53012271 53012271 single base substitution G A upstream_gene_variant LIRI-JP 17 53012556 53012556 single base substitution G T downstream_gene_variant LIRI-JP 17 53012556 53012556 single base substitution G T intron_variant LIRI-JP 17 53012556 53012556 single base substitution G T upstream_gene_variant LIRI-JP 17 53014808 53014808 single base substitution T A 3_prime_UTR_variant LIRI-JP 17 53014808 53014808 single base substitution T A downstream_gene_variant LIRI-JP 17 53014808 53014808 single base substitution T A exon_variant LIRI-JP 17 53014808 53014808 single base substitution T A intron_variant LIRI-JP 17 53014808 53014808 single base substitution T A upstream_gene_variant LIRI-JP 17 53014812 53014812 single base substitution T G 3_prime_UTR_variant LIRI-JP 17 53014812 53014812 single base substitution T G downstream_gene_variant LIRI-JP 17 53014812 53014812 single base substitution T G exon_variant LIRI-JP 17 53014812 53014812 single base substitution T G intron_variant LIRI-JP 17 53014812 53014812 single base substitution T G upstream_gene_variant LIRI-JP 17 53016460 53016460 single base substitution C T downstream_gene_variant LIRI-JP 17 53016460 53016460 single base substitution C T intron_variant LIRI-JP 17 53018778 53018778 single base substitution A C downstream_gene_variant LIRI-JP 17 53018778 53018778 single base substitution A C intron_variant LIRI-JP 17 53019083 53019083 single base substitution A G downstream_gene_variant LIRI-JP 17 53019083 53019083 single base substitution A G intron_variant LIRI-JP 17 53019561 53019561 single base substitution G A downstream_gene_variant LIRI-JP 17 53019561 53019561 single base substitution G A intron_variant LIRI-JP 17 53019754 53019754 single base substitution G T 3_prime_UTR_variant LIRI-JP 17 53019754 53019754 single base substitution G T downstream_gene_variant LIRI-JP 17 53019754 53019754 single base substitution G T intron_variant LIRI-JP 17 53020095 53020095 single base substitution A G downstream_gene_variant LIRI-JP 17 53020095 53020095 single base substitution A G intron_variant LIRI-JP 17 53020963 53020963 single base substitution C T intron_variant LIRI-JP 17 53021061 53021061 single base substitution C T intron_variant LIRI-JP 17 53021541 53021541 single base substitution G A intron_variant LIRI-JP 17 53024108 53024108 single base substitution G C intron_variant LIRI-JP 17 53026391 53026392 deletion of <=200bp AT - downstream_gene_variant LIRI-JP 17 53026391 53026392 deletion of <=200bp AT - intron_variant LIRI-JP 17 53029606 53029606 single base substitution C T downstream_gene_variant LIRI-JP 17 53029606 53029606 single base substitution C T intron_variant LIRI-JP 17 53029829 53029829 single base substitution A G intron_variant LIRI-JP 17 53031987 53031987 single base substitution C G intron_variant LIRI-JP 17 53033661 53033661 single base substitution A G intron_variant LIRI-JP 17 53034891 53034891 single base substitution A G intron_variant LIRI-JP 17 53035086 53035086 single base substitution T A intron_variant LIRI-JP 17 53035231 53035231 single base substitution T A intron_variant LIRI-JP 17 53035489 53035489 single base substitution A C intron_variant LIRI-JP 17 53035712 53035712 single base substitution C T intron_variant LIRI-JP 17 53036008 53036008 single base substitution T C intron_variant LIRI-JP 17 53036410 53036410 single base substitution A T intron_variant LIRI-JP 17 53036610 53036610 single base substitution T G intron_variant LIRI-JP 17 53038227 53038227 single base substitution A G downstream_gene_variant LIRI-JP 17 53038227 53038227 single base substitution A G intron_variant LIRI-JP 17 53038398 53038398 single base substitution T G downstream_gene_variant LIRI-JP 17 53038398 53038398 single base substitution T G intron_variant LIRI-JP 17 53039462 53039462 single base substitution T C downstream_gene_variant LIRI-JP 17 53039848 53039848 single base substitution T G downstream_gene_variant LIRI-JP 17 53040386 53040386 single base substitution C T downstream_gene_variant LIRI-JP 17 53040468 53040468 single base substitution A C downstream_gene_variant LIRI-JP 17 53040634 53040634 single base substitution A G downstream_gene_variant LIRI-JP 17 53040737 53040737 single base substitution T A downstream_gene_variant LIRI-JP 17 53041047 53041047 single base substitution C T downstream_gene_variant LIRI-JP 17 53041073 53041073 single base substitution T G downstream_gene_variant LIRI-JP 17 53041284 53041284 single base substitution A C downstream_gene_variant LIRI-JP 17 53041964 53041964 single base substitution A G downstream_gene_variant LIRI-JP 17 53042053 53042053 single base substitution C T downstream_gene_variant LIRI-JP 17 53042099 53042099 single base substitution T G downstream_gene_variant LIRI-JP 17 53042326 53042326 single base substitution A C downstream_gene_variant LIRI-JP 17 53042687 53042687 single base substitution A C downstream_gene_variant LIRI-JP 17 53042756 53042756 single base substitution A G downstream_gene_variant LIRI-JP 17 53043314 53043314 single base substitution A C downstream_gene_variant LIRI-JP 17 53043425 53043425 single base substitution T G downstream_gene_variant LIRI-JP 17 53043724 53043724 single base substitution A C downstream_gene_variant LUSC-KR 17 52977930 52977930 single base substitution C T 5_prime_UTR_variant LUSC-KR 17 52977930 52977930 single base substitution C T downstream_gene_variant LUSC-KR 17 52977930 52977930 single base substitution C T upstream_gene_variant LUSC-KR 17 52982230 52982230 single base substitution G T downstream_gene_variant LUSC-KR 17 52982230 52982230 single base substitution G T intron_variant LUSC-KR 17 52983892 52983892 single base substitution G T intron_variant LUSC-KR 17 52983893 52983893 single base substitution G T intron_variant LUSC-KR 17 52987520 52987520 single base substitution A C intron_variant LUSC-KR 17 52987520 52987520 single base substitution A C upstream_gene_variant LUSC-KR 17 52993983 52993983 single base substitution G C 3_prime_UTR_variant LUSC-KR 17 52993983 52993983 single base substitution G C downstream_gene_variant LUSC-KR 17 52993983 52993983 single base substitution G C intron_variant LUSC-KR 17 52994355 52994355 single base substitution G A 3_prime_UTR_variant LUSC-KR 17 52994355 52994355 single base substitution G A downstream_gene_variant LUSC-KR 17 52994355 52994355 single base substitution G A intron_variant LUSC-KR 17 52999234 52999234 single base substitution A T downstream_gene_variant LUSC-KR 17 52999234 52999234 single base substitution A T intron_variant LUSC-KR 17 53013508 53013508 single base substitution A G intron_variant LUSC-KR 17 53013508 53013508 single base substitution A G upstream_gene_variant LUSC-KR 17 53020111 53020111 single base substitution A G downstream_gene_variant LUSC-KR 17 53020111 53020111 single base substitution A G intron_variant LUSC-KR 17 53039252 53039252 single base substitution C A 3_prime_UTR_variant LUSC-KR 17 53039252 53039252 single base substitution C A downstream_gene_variant LUSC-KR 17 53043484 53043484 single base substitution G C downstream_gene_variant LUSC-KR 17 53043914 53043914 single base substitution G C downstream_gene_variant LUSC-US 17 52978259 52978259 single base substitution C G 5_prime_UTR_variant LUSC-US 17 52978259 52978259 single base substitution C G downstream_gene_variant LUSC-US 17 52978259 52978259 single base substitution C G exon_variant LUSC-US 17 52978259 52978259 single base substitution C G stop_gained Y11* 33C>G LUSC-US 17 52978259 52978259 single base substitution C G stop_gained Y7* 21C>G LUSC-US 17 52978259 52978259 single base substitution C G stop_gained Y9* 27C>G LUSC-US 17 52978259 52978259 single base substitution C G upstream_gene_variant LUSC-US 17 52993166 52993166 single base substitution C T 3_prime_UTR_variant LUSC-US 17 52993166 52993166 single base substitution C T downstream_gene_variant LUSC-US 17 52993166 52993166 single base substitution C T exon_variant LUSC-US 17 52993166 52993166 single base substitution C T synonymous_variant A109A 327C>T LUSC-US 17 52993166 52993166 single base substitution C T synonymous_variant A144A 432C>T LUSC-US 17 52993166 52993166 single base substitution C T synonymous_variant A167A 501C>T LUSC-US 17 52993166 52993166 single base substitution C T synonymous_variant A184A 552C>T LUSC-US 17 52993166 52993166 single base substitution C T synonymous_variant A186A 558C>T LUSC-US 17 52993166 52993166 single base substitution C T synonymous_variant A211A 633C>T LUSC-US 17 52993166 52993166 single base substitution C T synonymous_variant A214A 642C>T LUSC-US 17 52993166 52993166 single base substitution C T synonymous_variant A221A 663C>T LUSC-US 17 53040696 53040696 single base substitution C G downstream_gene_variant MALY-DE 17 52973013 52973013 single base substitution C A upstream_gene_variant MALY-DE 17 52973474 52973474 single base substitution A C upstream_gene_variant MALY-DE 17 52974355 52974355 single base substitution A G upstream_gene_variant MALY-DE 17 52980436 52980436 single base substitution A T downstream_gene_variant MALY-DE 17 52980436 52980436 single base substitution A T intron_variant MALY-DE 17 52984681 52984681 single base substitution T G intron_variant MALY-DE 17 52986172 52986172 single base substitution G A intron_variant MALY-DE 17 52990795 52990795 single base substitution G T intron_variant MALY-DE 17 52990795 52990795 single base substitution G T upstream_gene_variant MALY-DE 17 52992138 52992138 single base substitution C G downstream_gene_variant MALY-DE 17 52992138 52992138 single base substitution C G intron_variant MALY-DE 17 52993417 52993417 single base substitution T G 3_prime_UTR_variant MALY-DE 17 52993417 52993417 single base substitution T G downstream_gene_variant MALY-DE 17 52993417 52993417 single base substitution T G intron_variant MALY-DE 17 52995531 52995531 single base substitution C T downstream_gene_variant MALY-DE 17 52995531 52995531 single base substitution C T intron_variant MALY-DE 17 52996769 52996769 single base substitution C A downstream_gene_variant MALY-DE 17 52996769 52996769 single base substitution C A intron_variant MALY-DE 17 52997371 52997371 single base substitution T A downstream_gene_variant MALY-DE 17 52997371 52997371 single base substitution T A intron_variant MALY-DE 17 52997372 52997372 single base substitution A T downstream_gene_variant MALY-DE 17 52997372 52997372 single base substitution A T intron_variant MALY-DE 17 53001169 53001169 single base substitution A C intron_variant MALY-DE 17 53008335 53008335 single base substitution A G downstream_gene_variant MALY-DE 17 53008335 53008335 single base substitution A G intron_variant MALY-DE 17 53012479 53012479 single base substitution G T downstream_gene_variant MALY-DE 17 53012479 53012479 single base substitution G T intron_variant MALY-DE 17 53012479 53012479 single base substitution G T upstream_gene_variant MALY-DE 17 53015609 53015609 single base substitution C A downstream_gene_variant MALY-DE 17 53015609 53015609 single base substitution C A intron_variant MALY-DE 17 53015609 53015609 single base substitution C A upstream_gene_variant MALY-DE 17 53026909 53026909 single base substitution C T 3_prime_UTR_variant MALY-DE 17 53026909 53026909 single base substitution C T downstream_gene_variant MALY-DE 17 53026909 53026909 single base substitution C T exon_variant MALY-DE 17 53026909 53026909 single base substitution C T splice_region_variant MALY-DE 17 53026909 53026909 single base substitution C T stop_gained Q293* 877C>T MALY-DE 17 53026909 53026909 single base substitution C T stop_gained Q328* 982C>T MALY-DE 17 53026909 53026909 single base substitution C T stop_gained Q398* 1192C>T MALY-DE 17 53026909 53026909 single base substitution C T stop_gained Q405* 1213C>T MALY-DE 17 53026909 53026909 single base substitution C T stop_gained Q60* 178C>T MALY-DE 17 53041244 53041244 single base substitution G A downstream_gene_variant MALY-DE 17 53042871 53042871 single base substitution T G downstream_gene_variant MELA-AU 17 52971796 52971796 single base substitution C T upstream_gene_variant MELA-AU 17 52971983 52971983 single base substitution G A upstream_gene_variant MELA-AU 17 52972183 52972183 single base substitution G A upstream_gene_variant MELA-AU 17 52972465 52972465 single base substitution G A upstream_gene_variant MELA-AU 17 52972558 52972558 single base substitution T C upstream_gene_variant MELA-AU 17 52972679 52972679 single base substitution G A upstream_gene_variant MELA-AU 17 52972774 52972774 single base substitution T C upstream_gene_variant MELA-AU 17 52972789 52972789 single base substitution G A upstream_gene_variant MELA-AU 17 52973011 52973011 single base substitution C T upstream_gene_variant MELA-AU 17 52973013 52973013 single base substitution C A upstream_gene_variant MELA-AU 17 52973161 52973161 single base substitution G A upstream_gene_variant MELA-AU 17 52973217 52973217 single base substitution C T upstream_gene_variant MELA-AU 17 52973656 52973656 single base substitution G A upstream_gene_variant MELA-AU 17 52973745 52973745 single base substitution G T upstream_gene_variant MELA-AU 17 52973871 52973871 single base substitution G A upstream_gene_variant MELA-AU 17 52973962 52973962 single base substitution G A upstream_gene_variant MELA-AU 17 52973996 52973996 single base substitution C T upstream_gene_variant MELA-AU 17 52974160 52974160 single base substitution T G upstream_gene_variant MELA-AU 17 52974209 52974209 single base substitution G A upstream_gene_variant MELA-AU 17 52974642 52974642 single base substitution C T upstream_gene_variant MELA-AU 17 52974699 52974699 single base substitution C T upstream_gene_variant MELA-AU 17 52975360 52975360 single base substitution G A upstream_gene_variant MELA-AU 17 52975732 52975732 single base substitution G C upstream_gene_variant MELA-AU 17 52975800 52975800 single base substitution C T upstream_gene_variant MELA-AU 17 52976410 52976410 single base substitution C T upstream_gene_variant MELA-AU 17 52976536 52976537 multiple base substitution (>=2bp and <=200bp) GG AA upstream_gene_variant MELA-AU 17 52976923 52976923 single base substitution A G 5_prime_UTR_variant MELA-AU 17 52976923 52976923 single base substitution A G upstream_gene_variant MELA-AU 17 52977465 52977465 single base substitution A C 5_prime_UTR_variant MELA-AU 17 52977465 52977465 single base substitution A C exon_variant MELA-AU 17 52977465 52977465 single base substitution A C upstream_gene_variant MELA-AU 17 52977982 52977982 single base substitution G A 5_prime_UTR_variant MELA-AU 17 52977982 52977982 single base substitution G A downstream_gene_variant MELA-AU 17 52977982 52977982 single base substitution G A upstream_gene_variant MELA-AU 17 52979069 52979069 single base substitution G A downstream_gene_variant MELA-AU 17 52979069 52979069 single base substitution G A intron_variant MELA-AU 17 52980512 52980512 single base substitution G A downstream_gene_variant MELA-AU 17 52980512 52980512 single base substitution G A intron_variant MELA-AU 17 52981789 52981789 single base substitution C T downstream_gene_variant MELA-AU 17 52981789 52981789 single base substitution C T intron_variant MELA-AU 17 52981847 52981847 single base substitution G T downstream_gene_variant MELA-AU 17 52981847 52981847 single base substitution G T intron_variant MELA-AU 17 52981943 52981943 single base substitution C T downstream_gene_variant MELA-AU 17 52981943 52981943 single base substitution C T intron_variant MELA-AU 17 52982992 52982992 single base substitution C T intron_variant MELA-AU 17 52983445 52983445 single base substitution C T intron_variant MELA-AU 17 52983935 52983935 single base substitution C T intron_variant MELA-AU 17 52984141 52984141 single base substitution C T intron_variant MELA-AU 17 52984141 52984141 single base substitution C T splice_region_variant MELA-AU 17 52985697 52985697 single base substitution C T intron_variant MELA-AU 17 52986186 52986186 single base substitution G A intron_variant MELA-AU 17 52986186 52986186 single base substitution G A upstream_gene_variant MELA-AU 17 52986742 52986743 multiple base substitution (>=2bp and <=200bp) GG AT intron_variant MELA-AU 17 52986742 52986743 multiple base substitution (>=2bp and <=200bp) GG AT upstream_gene_variant MELA-AU 17 52987123 52987123 single base substitution C T intron_variant MELA-AU 17 52987123 52987123 single base substitution C T upstream_gene_variant MELA-AU 17 52988560 52988560 single base substitution C T intron_variant MELA-AU 17 52988560 52988560 single base substitution C T upstream_gene_variant MELA-AU 17 52989152 52989152 single base substitution C T intron_variant MELA-AU 17 52989152 52989152 single base substitution C T upstream_gene_variant MELA-AU 17 52989274 52989274 single base substitution C T intron_variant MELA-AU 17 52989274 52989274 single base substitution C T upstream_gene_variant MELA-AU 17 52989475 52989475 single base substitution C T intron_variant MELA-AU 17 52989475 52989475 single base substitution C T upstream_gene_variant MELA-AU 17 52989528 52989528 single base substitution C T intron_variant MELA-AU 17 52989528 52989528 single base substitution C T upstream_gene_variant MELA-AU 17 52989533 52989533 single base substitution A G intron_variant MELA-AU 17 52989533 52989533 single base substitution A G upstream_gene_variant MELA-AU 17 52989564 52989564 single base substitution C T intron_variant MELA-AU 17 52989564 52989564 single base substitution C T upstream_gene_variant MELA-AU 17 52989574 52989574 single base substitution T A intron_variant MELA-AU 17 52989574 52989574 single base substitution T A upstream_gene_variant MELA-AU 17 52989718 52989718 single base substitution C T intron_variant MELA-AU 17 52989718 52989718 single base substitution C T upstream_gene_variant MELA-AU 17 52989722 52989722 single base substitution C T intron_variant MELA-AU 17 52989722 52989722 single base substitution C T upstream_gene_variant MELA-AU 17 52990463 52990463 single base substitution C T intron_variant MELA-AU 17 52990463 52990463 single base substitution C T upstream_gene_variant MELA-AU 17 52990822 52990822 single base substitution C T intron_variant MELA-AU 17 52990822 52990822 single base substitution C T upstream_gene_variant MELA-AU 17 52991171 52991171 single base substitution C T 3_prime_UTR_variant MELA-AU 17 52991171 52991171 single base substitution C T exon_variant MELA-AU 17 52991171 52991171 single base substitution C T synonymous_variant D110D 330C>T MELA-AU 17 52991171 52991171 single base substitution C T synonymous_variant D135D 405C>T MELA-AU 17 52991171 52991171 single base substitution C T synonymous_variant D138D 414C>T MELA-AU 17 52991171 52991171 single base substitution C T synonymous_variant D143D 429C>T MELA-AU 17 52991171 52991171 single base substitution C T synonymous_variant D145D 435C>T MELA-AU 17 52991171 52991171 single base substitution C T synonymous_variant D68D 204C>T MELA-AU 17 52991171 52991171 single base substitution C T synonymous_variant D91D 273C>T MELA-AU 17 52991171 52991171 single base substitution C T upstream_gene_variant MELA-AU 17 52991401 52991401 single base substitution T C downstream_gene_variant MELA-AU 17 52991401 52991401 single base substitution T C intron_variant MELA-AU 17 52991872 52991872 single base substitution G A downstream_gene_variant MELA-AU 17 52991872 52991872 single base substitution G A intron_variant MELA-AU 17 52991883 52991883 single base substitution G C downstream_gene_variant MELA-AU 17 52991883 52991883 single base substitution G C intron_variant MELA-AU 17 52994034 52994034 single base substitution C T 3_prime_UTR_variant MELA-AU 17 52994034 52994034 single base substitution C T downstream_gene_variant MELA-AU 17 52994034 52994034 single base substitution C T intron_variant MELA-AU 17 52995118 52995118 single base substitution G A downstream_gene_variant MELA-AU 17 52995118 52995118 single base substitution G A intron_variant MELA-AU 17 52995294 52995294 single base substitution C T downstream_gene_variant MELA-AU 17 52995294 52995294 single base substitution C T intron_variant MELA-AU 17 52995731 52995731 single base substitution C T downstream_gene_variant MELA-AU 17 52995731 52995731 single base substitution C T intron_variant MELA-AU 17 52996302 52996302 single base substitution C T downstream_gene_variant MELA-AU 17 52996302 52996302 single base substitution C T intron_variant MELA-AU 17 52996579 52996579 single base substitution T C downstream_gene_variant MELA-AU 17 52996579 52996579 single base substitution T C intron_variant MELA-AU 17 52997346 52997346 single base substitution G T downstream_gene_variant MELA-AU 17 52997346 52997346 single base substitution G T intron_variant MELA-AU 17 52997371 52997372 multiple base substitution (>=2bp and <=200bp) TA AT downstream_gene_variant MELA-AU 17 52997371 52997372 multiple base substitution (>=2bp and <=200bp) TA AT intron_variant MELA-AU 17 52997389 52997389 single base substitution C T downstream_gene_variant MELA-AU 17 52997389 52997389 single base substitution C T intron_variant MELA-AU 17 52998710 52998710 single base substitution C T downstream_gene_variant MELA-AU 17 52998710 52998710 single base substitution C T intron_variant MELA-AU 17 52999180 52999180 single base substitution C T downstream_gene_variant MELA-AU 17 52999180 52999180 single base substitution C T intron_variant MELA-AU 17 52999878 52999878 single base substitution C T intron_variant MELA-AU 17 52999896 52999896 single base substitution C T intron_variant MELA-AU 17 53000212 53000212 single base substitution C T intron_variant MELA-AU 17 53000266 53000266 single base substitution C T intron_variant MELA-AU 17 53000315 53000315 single base substitution C T intron_variant MELA-AU 17 53000474 53000474 single base substitution C T intron_variant MELA-AU 17 53001395 53001395 single base substitution C T intron_variant MELA-AU 17 53001707 53001707 single base substitution C T intron_variant MELA-AU 17 53002169 53002169 single base substitution C T intron_variant MELA-AU 17 53002214 53002214 single base substitution T A intron_variant MELA-AU 17 53002259 53002259 single base substitution A G intron_variant MELA-AU 17 53003375 53003375 single base substitution C T intron_variant MELA-AU 17 53003432 53003432 single base substitution T C intron_variant MELA-AU 17 53003964 53003964 single base substitution G A intron_variant MELA-AU 17 53004648 53004648 single base substitution G A intron_variant MELA-AU 17 53004870 53004870 single base substitution C T intron_variant MELA-AU 17 53005137 53005137 single base substitution C T intron_variant MELA-AU 17 53005728 53005728 single base substitution C A intron_variant MELA-AU 17 53006160 53006160 single base substitution C T intron_variant MELA-AU 17 53006396 53006396 single base substitution A C intron_variant MELA-AU 17 53007421 53007421 single base substitution C T intron_variant MELA-AU 17 53008477 53008477 single base substitution C T downstream_gene_variant MELA-AU 17 53008477 53008477 single base substitution C T intron_variant MELA-AU 17 53009211 53009211 single base substitution C T downstream_gene_variant MELA-AU 17 53009211 53009211 single base substitution C T intron_variant MELA-AU 17 53009211 53009211 single base substitution C T upstream_gene_variant MELA-AU 17 53009326 53009326 single base substitution T A downstream_gene_variant MELA-AU 17 53009326 53009326 single base substitution T A intron_variant MELA-AU 17 53009326 53009326 single base substitution T A upstream_gene_variant MELA-AU 17 53009948 53009948 single base substitution G C downstream_gene_variant MELA-AU 17 53009948 53009948 single base substitution G C intron_variant MELA-AU 17 53009948 53009948 single base substitution G C upstream_gene_variant MELA-AU 17 53009982 53009982 single base substitution A T downstream_gene_variant MELA-AU 17 53009982 53009982 single base substitution A T intron_variant MELA-AU 17 53009982 53009982 single base substitution A T upstream_gene_variant MELA-AU 17 53010362 53010362 single base substitution C T downstream_gene_variant MELA-AU 17 53010362 53010362 single base substitution C T intron_variant MELA-AU 17 53010362 53010362 single base substitution C T upstream_gene_variant MELA-AU 17 53010433 53010433 single base substitution C T downstream_gene_variant MELA-AU 17 53010433 53010433 single base substitution C T intron_variant MELA-AU 17 53010433 53010433 single base substitution C T upstream_gene_variant MELA-AU 17 53010487 53010487 single base substitution C T downstream_gene_variant MELA-AU 17 53010487 53010487 single base substitution C T intron_variant MELA-AU 17 53010487 53010487 single base substitution C T upstream_gene_variant MELA-AU 17 53010683 53010683 single base substitution T C downstream_gene_variant MELA-AU 17 53010683 53010683 single base substitution T C intron_variant MELA-AU 17 53010683 53010683 single base substitution T C upstream_gene_variant MELA-AU 17 53011006 53011006 single base substitution C T downstream_gene_variant MELA-AU 17 53011006 53011006 single base substitution C T intron_variant MELA-AU 17 53011006 53011006 single base substitution C T upstream_gene_variant MELA-AU 17 53011517 53011517 single base substitution T A downstream_gene_variant MELA-AU 17 53011517 53011517 single base substitution T A intron_variant MELA-AU 17 53011517 53011517 single base substitution T A upstream_gene_variant MELA-AU 17 53011637 53011637 single base substitution T A downstream_gene_variant MELA-AU 17 53011637 53011637 single base substitution T A intron_variant MELA-AU 17 53011637 53011637 single base substitution T A upstream_gene_variant MELA-AU 17 53014249 53014249 single base substitution A G downstream_gene_variant MELA-AU 17 53014249 53014249 single base substitution A G intron_variant MELA-AU 17 53014249 53014249 single base substitution A G upstream_gene_variant MELA-AU 17 53014311 53014311 single base substitution G A downstream_gene_variant MELA-AU 17 53014311 53014311 single base substitution G A intron_variant MELA-AU 17 53014311 53014311 single base substitution G A upstream_gene_variant MELA-AU 17 53014328 53014328 single base substitution C T downstream_gene_variant MELA-AU 17 53014328 53014328 single base substitution C T intron_variant MELA-AU 17 53014328 53014328 single base substitution C T upstream_gene_variant MELA-AU 17 53014343 53014343 single base substitution C T downstream_gene_variant MELA-AU 17 53014343 53014343 single base substitution C T intron_variant MELA-AU 17 53014343 53014343 single base substitution C T upstream_gene_variant MELA-AU 17 53014505 53014505 single base substitution C T 3_prime_UTR_variant MELA-AU 17 53014505 53014505 single base substitution C T downstream_gene_variant MELA-AU 17 53014505 53014505 single base substitution C T exon_variant MELA-AU 17 53014505 53014505 single base substitution C T synonymous_variant L205L 615C>T MELA-AU 17 53014505 53014505 single base substitution C T synonymous_variant L240L 720C>T MELA-AU 17 53014505 53014505 single base substitution C T synonymous_variant L310L 930C>T MELA-AU 17 53014505 53014505 single base substitution C T synonymous_variant L317L 951C>T MELA-AU 17 53014505 53014505 single base substitution C T upstream_gene_variant MELA-AU 17 53015537 53015538 multiple base substitution (>=2bp and <=200bp) CC TT downstream_gene_variant MELA-AU 17 53015537 53015538 multiple base substitution (>=2bp and <=200bp) CC TT intron_variant MELA-AU 17 53015537 53015538 multiple base substitution (>=2bp and <=200bp) CC TT upstream_gene_variant MELA-AU 17 53016031 53016031 single base substitution A C downstream_gene_variant MELA-AU 17 53016031 53016031 single base substitution A C exon_variant MELA-AU 17 53016031 53016031 single base substitution A C intron_variant MELA-AU 17 53016031 53016031 single base substitution A C upstream_gene_variant MELA-AU 17 53016619 53016619 single base substitution C T downstream_gene_variant MELA-AU 17 53016619 53016619 single base substitution C T intron_variant MELA-AU 17 53016899 53016899 single base substitution C T downstream_gene_variant MELA-AU 17 53016899 53016899 single base substitution C T intron_variant MELA-AU 17 53016910 53016910 single base substitution C T downstream_gene_variant MELA-AU 17 53016910 53016910 single base substitution C T intron_variant MELA-AU 17 53017231 53017231 single base substitution G A downstream_gene_variant MELA-AU 17 53017231 53017231 single base substitution G A intron_variant MELA-AU 17 53017407 53017407 single base substitution C T downstream_gene_variant MELA-AU 17 53017407 53017407 single base substitution C T intron_variant MELA-AU 17 53017455 53017455 single base substitution C T downstream_gene_variant MELA-AU 17 53017455 53017455 single base substitution C T intron_variant MELA-AU 17 53019178 53019178 single base substitution C T downstream_gene_variant MELA-AU 17 53019178 53019178 single base substitution C T intron_variant MELA-AU 17 53019349 53019349 single base substitution C T downstream_gene_variant MELA-AU 17 53019349 53019349 single base substitution C T intron_variant MELA-AU 17 53019375 53019375 single base substitution C T downstream_gene_variant MELA-AU 17 53019375 53019375 single base substitution C T intron_variant MELA-AU 17 53020266 53020266 single base substitution G A downstream_gene_variant MELA-AU 17 53020266 53020266 single base substitution G A intron_variant MELA-AU 17 53021061 53021061 single base substitution C T intron_variant MELA-AU 17 53021221 53021221 single base substitution C T intron_variant MELA-AU 17 53021765 53021765 single base substitution C T intron_variant MELA-AU 17 53022173 53022173 single base substitution C T intron_variant MELA-AU 17 53023585 53023585 single base substitution C T intron_variant MELA-AU 17 53023691 53023691 single base substitution C A intron_variant MELA-AU 17 53026216 53026216 single base substitution C T downstream_gene_variant MELA-AU 17 53026216 53026216 single base substitution C T intron_variant MELA-AU 17 53029099 53029099 single base substitution G A downstream_gene_variant MELA-AU 17 53029099 53029099 single base substitution G A intron_variant MELA-AU 17 53029497 53029497 single base substitution G A downstream_gene_variant MELA-AU 17 53029497 53029497 single base substitution G A intron_variant MELA-AU 17 53029766 53029766 single base substitution G A intron_variant MELA-AU 17 53029815 53029815 single base substitution G A intron_variant MELA-AU 17 53029843 53029843 single base substitution G A intron_variant MELA-AU 17 53030763 53030763 single base substitution C T intron_variant MELA-AU 17 53031331 53031331 single base substitution C T intron_variant MELA-AU 17 53031391 53031391 single base substitution G A intron_variant MELA-AU 17 53032247 53032247 single base substitution C T intron_variant MELA-AU 17 53032506 53032506 single base substitution T C intron_variant MELA-AU 17 53033462 53033462 single base substitution G A intron_variant MELA-AU 17 53034528 53034528 single base substitution C T intron_variant MELA-AU 17 53034699 53034699 single base substitution C T intron_variant MELA-AU 17 53035143 53035143 single base substitution A C intron_variant MELA-AU 17 53035375 53035375 single base substitution T A intron_variant MELA-AU 17 53035737 53035737 single base substitution G A intron_variant MELA-AU 17 53036702 53036702 single base substitution G A 3_prime_UTR_variant MELA-AU 17 53036702 53036702 single base substitution G A intron_variant MELA-AU 17 53037426 53037426 single base substitution G A downstream_gene_variant MELA-AU 17 53037426 53037426 single base substitution G A intron_variant MELA-AU 17 53037560 53037560 single base substitution C T downstream_gene_variant MELA-AU 17 53037560 53037560 single base substitution C T intron_variant MELA-AU 17 53038184 53038184 single base substitution C T downstream_gene_variant MELA-AU 17 53038184 53038184 single base substitution C T intron_variant MELA-AU 17 53038807 53038807 single base substitution G A 3_prime_UTR_variant MELA-AU 17 53038807 53038807 single base substitution G A downstream_gene_variant MELA-AU 17 53039624 53039624 single base substitution A G downstream_gene_variant MELA-AU 17 53040298 53040298 single base substitution T C downstream_gene_variant ORCA-IN 17 52973537 52973537 single base substitution G A upstream_gene_variant ORCA-IN 17 52995407 52995407 single base substitution A T downstream_gene_variant ORCA-IN 17 52995407 52995407 single base substitution A T intron_variant ORCA-IN 17 53018962 53018962 single base substitution G A downstream_gene_variant ORCA-IN 17 53018962 53018962 single base substitution G A intron_variant ORCA-IN 17 53026960 53026960 single base substitution C T 3_prime_UTR_variant ORCA-IN 17 53026960 53026960 single base substitution C T downstream_gene_variant ORCA-IN 17 53026960 53026960 single base substitution C T exon_variant ORCA-IN 17 53026960 53026960 single base substitution C T missense_variant P310S 928C>T ORCA-IN 17 53026960 53026960 single base substitution C T missense_variant P345S 1033C>T ORCA-IN 17 53026960 53026960 single base substitution C T missense_variant P411S 1231C>T ORCA-IN 17 53026960 53026960 single base substitution C T missense_variant P415S 1243C>T ORCA-IN 17 53026960 53026960 single base substitution C T missense_variant P422S 1264C>T ORCA-IN 17 53026960 53026960 single base substitution C T missense_variant P77S 229C>T OV-AU 17 52986559 52986559 single base substitution G C intron_variant OV-AU 17 52986559 52986559 single base substitution G C upstream_gene_variant OV-AU 17 52989149 52989149 single base substitution A T intron_variant OV-AU 17 52989149 52989149 single base substitution A T upstream_gene_variant OV-AU 17 52995097 52995097 single base substitution C G downstream_gene_variant OV-AU 17 52995097 52995097 single base substitution C G intron_variant OV-AU 17 53001107 53001107 single base substitution A G intron_variant OV-AU 17 53001330 53001330 single base substitution C T intron_variant OV-AU 17 53003594 53003594 single base substitution C A intron_variant OV-AU 17 53004650 53004650 single base substitution G C intron_variant OV-AU 17 53007985 53007985 single base substitution G A downstream_gene_variant OV-AU 17 53007985 53007985 single base substitution G A intron_variant OV-AU 17 53014785 53014785 single base substitution G A 3_prime_UTR_variant OV-AU 17 53014785 53014785 single base substitution G A downstream_gene_variant OV-AU 17 53014785 53014785 single base substitution G A exon_variant OV-AU 17 53014785 53014785 single base substitution G A intron_variant OV-AU 17 53014785 53014785 single base substitution G A upstream_gene_variant OV-AU 17 53015631 53015631 single base substitution G C downstream_gene_variant OV-AU 17 53015631 53015631 single base substitution G C intron_variant OV-AU 17 53015631 53015631 single base substitution G C upstream_gene_variant OV-AU 17 53039323 53039323 single base substitution T G downstream_gene_variant OV-US 17 52993155 52993155 single base substitution G A 3_prime_UTR_variant OV-US 17 52993155 52993155 single base substitution G A downstream_gene_variant OV-US 17 52993155 52993155 single base substitution G A exon_variant OV-US 17 52993155 52993155 single base substitution G A missense_variant V106M 316G>A OV-US 17 52993155 52993155 single base substitution G A missense_variant V141M 421G>A OV-US 17 52993155 52993155 single base substitution G A missense_variant V164M 490G>A OV-US 17 52993155 52993155 single base substitution G A missense_variant V181M 541G>A OV-US 17 52993155 52993155 single base substitution G A missense_variant V183M 547G>A OV-US 17 52993155 52993155 single base substitution G A missense_variant V208M 622G>A OV-US 17 52993155 52993155 single base substitution G A missense_variant V211M 631G>A OV-US 17 52993155 52993155 single base substitution G A missense_variant V218M 652G>A PACA-AU 17 52972101 52972101 single base substitution G A upstream_gene_variant PACA-AU 17 52978589 52978589 single base substitution G A 5_prime_UTR_variant PACA-AU 17 52978589 52978589 single base substitution G A downstream_gene_variant PACA-AU 17 52978589 52978589 single base substitution G A intron_variant PACA-AU 17 52981467 52981467 single base substitution G A downstream_gene_variant PACA-AU 17 52981467 52981467 single base substitution G A intron_variant PACA-AU 17 52986125 52986125 single base substitution A G intron_variant PACA-AU 17 52986268 52986271 deletion of <=200bp TGAA - intron_variant PACA-AU 17 52986268 52986271 deletion of <=200bp TGAA - upstream_gene_variant PACA-AU 17 52990819 52990844 deletion of <=200bp GTTCGAGAGCAGCCTGGCCAACATAG - intron_variant PACA-AU 17 52990819 52990844 deletion of <=200bp GTTCGAGAGCAGCCTGGCCAACATAG - upstream_gene_variant PACA-AU 17 52999295 52999296 deletion of <=200bp TT - downstream_gene_variant PACA-AU 17 52999295 52999296 deletion of <=200bp TT - intron_variant PACA-AU 17 53007117 53007117 single base substitution T C intron_variant PACA-AU 17 53008534 53008534 single base substitution A G downstream_gene_variant PACA-AU 17 53008534 53008534 single base substitution A G intron_variant PACA-AU 17 53013799 53013799 single base substitution T A exon_variant PACA-AU 17 53013799 53013799 single base substitution T A intron_variant PACA-AU 17 53013799 53013799 single base substitution T A upstream_gene_variant PACA-AU 17 53018189 53018189 single base substitution A G downstream_gene_variant PACA-AU 17 53018189 53018189 single base substitution A G intron_variant PACA-AU 17 53022554 53022554 single base substitution C G intron_variant PACA-AU 17 53025082 53025082 single base substitution C T downstream_gene_variant PACA-AU 17 53025082 53025082 single base substitution C T intron_variant PACA-AU 17 53027709 53027709 single base substitution G T downstream_gene_variant PACA-AU 17 53027709 53027709 single base substitution G T intron_variant PACA-AU 17 53028590 53028590 single base substitution G A downstream_gene_variant PACA-AU 17 53028590 53028590 single base substitution G A intron_variant PACA-AU 17 53028773 53028773 deletion of <=200bp C - downstream_gene_variant PACA-AU 17 53028773 53028773 deletion of <=200bp C - intron_variant PACA-AU 17 53029689 53029689 single base substitution C T downstream_gene_variant PACA-AU 17 53029689 53029689 single base substitution C T intron_variant PACA-AU 17 53033126 53033126 single base substitution A G intron_variant PACA-AU 17 53033522 53033522 single base substitution T C intron_variant PACA-AU 17 53035437 53035437 single base substitution A G intron_variant PACA-AU 17 53036108 53036108 single base substitution A G intron_variant PACA-AU 17 53036750 53036750 single base substitution G C 3_prime_UTR_variant PACA-AU 17 53036750 53036750 single base substitution G C intron_variant PACA-AU 17 53041753 53041753 single base substitution G A downstream_gene_variant PACA-CA 17 52972604 52972604 single base substitution C T upstream_gene_variant PACA-CA 17 52972633 52972633 single base substitution C T upstream_gene_variant PACA-CA 17 52973009 52973009 insertion of <=200bp - TA upstream_gene_variant PACA-CA 17 52973013 52973013 insertion of <=200bp - TA upstream_gene_variant PACA-CA 17 52973013 52973013 single base substitution C A upstream_gene_variant PACA-CA 17 52977472 52977472 single base substitution A G 5_prime_UTR_variant PACA-CA 17 52977472 52977472 single base substitution A G exon_variant PACA-CA 17 52977472 52977472 single base substitution A G upstream_gene_variant PACA-CA 17 52980286 52980286 single base substitution A G downstream_gene_variant PACA-CA 17 52980286 52980286 single base substitution A G intron_variant PACA-CA 17 52981599 52981599 single base substitution C T downstream_gene_variant PACA-CA 17 52981599 52981599 single base substitution C T intron_variant PACA-CA 17 52983750 52983750 single base substitution A G intron_variant PACA-CA 17 52984722 52984722 single base substitution T C intron_variant PACA-CA 17 52986785 52986785 single base substitution T C intron_variant PACA-CA 17 52986785 52986785 single base substitution T C upstream_gene_variant PACA-CA 17 52986983 52986983 single base substitution G A intron_variant PACA-CA 17 52986983 52986983 single base substitution G A upstream_gene_variant PACA-CA 17 52993600 52993600 single base substitution T G 3_prime_UTR_variant PACA-CA 17 52993600 52993600 single base substitution T G downstream_gene_variant PACA-CA 17 52993600 52993600 single base substitution T G intron_variant PACA-CA 17 52993886 52993886 single base substitution A G 3_prime_UTR_variant PACA-CA 17 52993886 52993886 single base substitution A G downstream_gene_variant PACA-CA 17 52993886 52993886 single base substitution A G intron_variant PACA-CA 17 52995567 52995567 single base substitution A G downstream_gene_variant PACA-CA 17 52995567 52995567 single base substitution A G intron_variant PACA-CA 17 52997561 52997561 single base substitution C T downstream_gene_variant PACA-CA 17 52997561 52997561 single base substitution C T intron_variant PACA-CA 17 53006620 53006620 insertion of <=200bp - GT intron_variant PACA-CA 17 53010088 53010088 single base substitution C T downstream_gene_variant PACA-CA 17 53010088 53010088 single base substitution C T intron_variant PACA-CA 17 53010088 53010088 single base substitution C T upstream_gene_variant PACA-CA 17 53013985 53013985 single base substitution A G exon_variant PACA-CA 17 53013985 53013985 single base substitution A G intron_variant PACA-CA 17 53013985 53013985 single base substitution A G upstream_gene_variant PACA-CA 17 53016209 53016209 single base substitution G T downstream_gene_variant PACA-CA 17 53016209 53016209 single base substitution G T exon_variant PACA-CA 17 53016209 53016209 single base substitution G T intron_variant PACA-CA 17 53016209 53016209 single base substitution G T upstream_gene_variant PACA-CA 17 53017954 53017954 single base substitution G C downstream_gene_variant PACA-CA 17 53017954 53017954 single base substitution G C intron_variant PACA-CA 17 53022237 53022237 single base substitution G C intron_variant PACA-CA 17 53030734 53030734 insertion of <=200bp - A intron_variant PACA-CA 17 53033475 53033475 single base substitution C G intron_variant PACA-CA 17 53036477 53036477 single base substitution G A intron_variant PACA-CA 17 53039827 53039827 insertion of <=200bp - A downstream_gene_variant PACA-CA 17 53040618 53040618 single base substitution C T downstream_gene_variant PACA-CA 17 53042318 53042318 single base substitution C T downstream_gene_variant PACA-CA 17 53044055 53044055 single base substitution G C downstream_gene_variant PAEN-AU 17 52983394 52983394 single base substitution G A intron_variant PAEN-AU 17 53002451 53002451 single base substitution A G intron_variant PBCA-DE 17 52973011 52973011 single base substitution C A upstream_gene_variant PBCA-DE 17 52974355 52974355 single base substitution A G upstream_gene_variant PBCA-DE 17 52975694 52975694 single base substitution C T upstream_gene_variant PBCA-DE 17 52982095 52982095 single base substitution T G downstream_gene_variant PBCA-DE 17 52982095 52982095 single base substitution T G intron_variant PBCA-DE 17 53005165 53005165 single base substitution G A intron_variant PBCA-DE 17 53011333 53011342 deletion of <=200bp TTATTTTGAG - downstream_gene_variant PBCA-DE 17 53011333 53011342 deletion of <=200bp TTATTTTGAG - intron_variant PBCA-DE 17 53011333 53011342 deletion of <=200bp TTATTTTGAG - upstream_gene_variant PBCA-DE 17 53011360 53011360 insertion of <=200bp - ACG downstream_gene_variant PBCA-DE 17 53011360 53011360 insertion of <=200bp - ACG intron_variant PBCA-DE 17 53011360 53011360 insertion of <=200bp - ACG upstream_gene_variant PBCA-DE 17 53014243 53014243 single base substitution T C downstream_gene_variant PBCA-DE 17 53014243 53014243 single base substitution T C intron_variant PBCA-DE 17 53014243 53014243 single base substitution T C upstream_gene_variant PBCA-DE 17 53035578 53035578 single base substitution G A intron_variant PBCA-DE 17 53041857 53041857 single base substitution A G downstream_gene_variant PRAD-CA 17 52973793 52973793 single base substitution A G upstream_gene_variant PRAD-CA 17 52997372 52997372 single base substitution A T downstream_gene_variant PRAD-CA 17 52997372 52997372 single base substitution A T intron_variant PRAD-CA 17 53004082 53004082 single base substitution G T intron_variant PRAD-CA 17 53012090 53012090 single base substitution C T downstream_gene_variant PRAD-CA 17 53012090 53012090 single base substitution C T intron_variant PRAD-CA 17 53012090 53012090 single base substitution C T upstream_gene_variant PRAD-CA 17 53016578 53016578 single base substitution T C downstream_gene_variant PRAD-CA 17 53016578 53016578 single base substitution T C intron_variant PRAD-UK 17 52975932 52975932 single base substitution A G upstream_gene_variant PRAD-UK 17 52985895 52985903 deletion of <=200bp AGTGATGAG - intron_variant PRAD-UK 17 52990131 52990131 single base substitution C T 3_prime_UTR_variant PRAD-UK 17 52990131 52990131 single base substitution C T exon_variant PRAD-UK 17 52990131 52990131 single base substitution C T intron_variant PRAD-UK 17 52990131 52990131 single base substitution C T synonymous_variant Y102Y 306C>T PRAD-UK 17 52990131 52990131 single base substitution C T synonymous_variant Y107Y 321C>T PRAD-UK 17 52990131 52990131 single base substitution C T synonymous_variant Y109Y 327C>T PRAD-UK 17 52990131 52990131 single base substitution C T synonymous_variant Y32Y 96C>T PRAD-UK 17 52990131 52990131 single base substitution C T synonymous_variant Y74Y 222C>T PRAD-UK 17 52990131 52990131 single base substitution C T synonymous_variant Y99Y 297C>T PRAD-UK 17 52990131 52990131 single base substitution C T upstream_gene_variant PRAD-UK 17 53040027 53040027 single base substitution T A downstream_gene_variant PRAD-UK 17 53044118 53044118 deletion of <=200bp T - downstream_gene_variant PRAD-US 17 53007460 53007460 single base substitution G T 3_prime_UTR_variant PRAD-US 17 53007460 53007460 single base substitution G T exon_variant PRAD-US 17 53007460 53007460 single base substitution G T missense_variant M137I 411G>T PRAD-US 17 53007460 53007460 single base substitution G T missense_variant M172I 516G>T PRAD-US 17 53007460 53007460 single base substitution G T missense_variant M195I 585G>T PRAD-US 17 53007460 53007460 single base substitution G T missense_variant M242I 726G>T PRAD-US 17 53007460 53007460 single base substitution G T missense_variant M249I 747G>T PRAD-US 17 53040259 53040259 single base substitution T G downstream_gene_variant RECA-EU 17 52977279 52977279 single base substitution G C 5_prime_UTR_variant RECA-EU 17 52977279 52977279 single base substitution G C exon_variant RECA-EU 17 52977279 52977279 single base substitution G C upstream_gene_variant RECA-EU 17 52983837 52983837 single base substitution C A intron_variant RECA-EU 17 52984530 52984530 single base substitution T G intron_variant RECA-EU 17 52992458 52992458 single base substitution C G downstream_gene_variant RECA-EU 17 52992458 52992458 single base substitution C G intron_variant RECA-EU 17 52995722 52995722 single base substitution C A downstream_gene_variant RECA-EU 17 52995722 52995722 single base substitution C A intron_variant RECA-EU 17 53012202 53012202 single base substitution C A downstream_gene_variant RECA-EU 17 53012202 53012202 single base substitution C A intron_variant RECA-EU 17 53012202 53012202 single base substitution C A upstream_gene_variant SKCA-BR 17 52973015 52973015 single base substitution A C upstream_gene_variant SKCA-BR 17 52974918 52974918 single base substitution A C upstream_gene_variant SKCA-BR 17 52974940 52974940 insertion of <=200bp - CA upstream_gene_variant SKCA-BR 17 52976459 52976459 insertion of <=200bp - CA upstream_gene_variant SKCA-BR 17 52979894 52979894 single base substitution A C downstream_gene_variant SKCA-BR 17 52979894 52979894 single base substitution A C intron_variant SKCA-BR 17 52982634 52982634 single base substitution T C downstream_gene_variant SKCA-BR 17 52982634 52982634 single base substitution T C intron_variant SKCA-BR 17 52983305 52983305 single base substitution A G intron_variant SKCA-BR 17 52984813 52984813 single base substitution C T intron_variant SKCA-BR 17 52988874 52988874 single base substitution A C intron_variant SKCA-BR 17 52988874 52988874 single base substitution A C upstream_gene_variant SKCA-BR 17 52990627 52990627 single base substitution C T intron_variant SKCA-BR 17 52990627 52990627 single base substitution C T upstream_gene_variant SKCA-BR 17 52997346 52997346 insertion of <=200bp - GATTT downstream_gene_variant SKCA-BR 17 52997346 52997346 insertion of <=200bp - GATTT intron_variant SKCA-BR 17 52998782 52998782 single base substitution T C downstream_gene_variant SKCA-BR 17 52998782 52998782 single base substitution T C intron_variant SKCA-BR 17 53003698 53003698 single base substitution A T intron_variant SKCA-BR 17 53004002 53004002 insertion of <=200bp - GA intron_variant SKCA-BR 17 53005719 53005719 insertion of <=200bp - GA intron_variant SKCA-BR 17 53006674 53006674 single base substitution G A intron_variant SKCA-BR 17 53007762 53007762 single base substitution C T downstream_gene_variant SKCA-BR 17 53007762 53007762 single base substitution C T intron_variant SKCA-BR 17 53009317 53009317 insertion of <=200bp - TTTG downstream_gene_variant SKCA-BR 17 53009317 53009317 insertion of <=200bp - TTTG intron_variant SKCA-BR 17 53009317 53009317 insertion of <=200bp - TTTG upstream_gene_variant SKCA-BR 17 53009320 53009321 deletion of <=200bp TG - downstream_gene_variant SKCA-BR 17 53009320 53009321 deletion of <=200bp TG - intron_variant SKCA-BR 17 53009320 53009321 deletion of <=200bp TG - upstream_gene_variant SKCA-BR 17 53009894 53009894 single base substitution C T downstream_gene_variant SKCA-BR 17 53009894 53009894 single base substitution C T intron_variant SKCA-BR 17 53009894 53009894 single base substitution C T upstream_gene_variant SKCA-BR 17 53010069 53010069 single base substitution A T downstream_gene_variant SKCA-BR 17 53010069 53010069 single base substitution A T intron_variant SKCA-BR 17 53010069 53010069 single base substitution A T upstream_gene_variant SKCA-BR 17 53010084 53010084 single base substitution C T downstream_gene_variant SKCA-BR 17 53010084 53010084 single base substitution C T intron_variant SKCA-BR 17 53010084 53010084 single base substitution C T upstream_gene_variant SKCA-BR 17 53012286 53012286 single base substitution C T downstream_gene_variant SKCA-BR 17 53012286 53012286 single base substitution C T intron_variant SKCA-BR 17 53012286 53012286 single base substitution C T upstream_gene_variant SKCA-BR 17 53015813 53015813 single base substitution C T downstream_gene_variant SKCA-BR 17 53015813 53015813 single base substitution C T intron_variant SKCA-BR 17 53015813 53015813 single base substitution C T upstream_gene_variant SKCA-BR 17 53016849 53016849 single base substitution A T downstream_gene_variant SKCA-BR 17 53016849 53016849 single base substitution A T intron_variant SKCA-BR 17 53019833 53019833 single base substitution C T 3_prime_UTR_variant SKCA-BR 17 53019833 53019833 single base substitution C T downstream_gene_variant SKCA-BR 17 53019833 53019833 single base substitution C T intron_variant SKCA-BR 17 53022049 53022049 single base substitution T C intron_variant SKCA-BR 17 53026587 53026587 single base substitution T C downstream_gene_variant SKCA-BR 17 53026587 53026587 single base substitution T C intron_variant SKCA-BR 17 53032583 53032583 single base substitution G A intron_variant SKCA-BR 17 53034911 53034911 single base substitution T G intron_variant SKCA-BR 17 53034945 53034945 single base substitution T G intron_variant SKCA-BR 17 53036091 53036091 insertion of <=200bp - CA intron_variant SKCA-BR 17 53036109 53036109 single base substitution A G intron_variant SKCA-BR 17 53037544 53037544 single base substitution T G downstream_gene_variant SKCA-BR 17 53037544 53037544 single base substitution T G intron_variant SKCA-BR 17 53039355 53039355 single base substitution G A downstream_gene_variant SKCA-BR 17 53041345 53041345 single base substitution C T downstream_gene_variant SKCM-US 17 52981124 52981124 single base substitution C T 3_prime_UTR_variant SKCM-US 17 52981124 52981124 single base substitution C T 5_prime_UTR_premature_start_codon_gain_variant SKCM-US 17 52981124 52981124 single base substitution C T downstream_gene_variant SKCM-US 17 52981124 52981124 single base substitution C T exon_variant SKCM-US 17 52981124 52981124 single base substitution C T intron_variant SKCM-US 17 52981124 52981124 single base substitution C T synonymous_variant I28I 84C>T SKCM-US 17 52981124 52981124 single base substitution C T synonymous_variant I34I 102C>T SKCM-US 17 52981124 52981124 single base substitution C T synonymous_variant I36I 108C>T SKCM-US 17 52981124 52981124 single base substitution C T synonymous_variant I38I 114C>T SKCM-US 17 52981124 52981124 single base substitution C T synonymous_variant I3I 9C>T SKCM-US 17 52990072 52990072 single base substitution C T 3_prime_UTR_variant SKCM-US 17 52990072 52990072 single base substitution C T exon_variant SKCM-US 17 52990072 52990072 single base substitution C T intron_variant SKCM-US 17 52990072 52990072 single base substitution C T synonymous_variant L13L 37C>T SKCM-US 17 52990072 52990072 single base substitution C T synonymous_variant L55L 163C>T SKCM-US 17 52990072 52990072 single base substitution C T synonymous_variant L80L 238C>T SKCM-US 17 52990072 52990072 single base substitution C T synonymous_variant L83L 247C>T SKCM-US 17 52990072 52990072 single base substitution C T synonymous_variant L88L 262C>T SKCM-US 17 52990072 52990072 single base substitution C T synonymous_variant L90L 268C>T SKCM-US 17 52990072 52990072 single base substitution C T upstream_gene_variant SKCM-US 17 52991127 52991127 single base substitution C T 3_prime_UTR_variant SKCM-US 17 52991127 52991127 single base substitution C T exon_variant SKCM-US 17 52991127 52991127 single base substitution C T missense_variant P121S 361C>T SKCM-US 17 52991127 52991127 single base substitution C T missense_variant P124S 370C>T SKCM-US 17 52991127 52991127 single base substitution C T missense_variant P129S 385C>T SKCM-US 17 52991127 52991127 single base substitution C T missense_variant P131S 391C>T SKCM-US 17 52991127 52991127 single base substitution C T missense_variant P54S 160C>T SKCM-US 17 52991127 52991127 single base substitution C T missense_variant P77S 229C>T SKCM-US 17 52991127 52991127 single base substitution C T missense_variant P96S 286C>T SKCM-US 17 52991127 52991127 single base substitution C T upstream_gene_variant SKCM-US 17 52992013 52992013 single base substitution C T 3_prime_UTR_variant SKCM-US 17 52992013 52992013 single base substitution C T downstream_gene_variant SKCM-US 17 52992013 52992013 single base substitution C T exon_variant SKCM-US 17 52992013 52992013 single base substitution C T intron_variant SKCM-US 17 52992013 52992013 single base substitution C T missense_variant S117L 350C>T SKCM-US 17 52992013 52992013 single base substitution C T missense_variant S136L 407C>T SKCM-US 17 52992013 52992013 single base substitution C T missense_variant S161L 482C>T SKCM-US 17 52992013 52992013 single base substitution C T missense_variant S164L 491C>T SKCM-US 17 52992013 52992013 single base substitution C T missense_variant S171L 512C>T SKCM-US 17 52992013 52992013 single base substitution C T missense_variant S94L 281C>T SKCM-US 17 53014034 53014034 single base substitution T G 3_prime_UTR_variant SKCM-US 17 53014034 53014034 single base substitution T G exon_variant SKCM-US 17 53014034 53014034 single base substitution T G missense_variant I181M 543T>G SKCM-US 17 53014034 53014034 single base substitution T G missense_variant I216M 648T>G SKCM-US 17 53014034 53014034 single base substitution T G missense_variant I239M 717T>G SKCM-US 17 53014034 53014034 single base substitution T G missense_variant I286M 858T>G SKCM-US 17 53014034 53014034 single base substitution T G missense_variant I293M 879T>G SKCM-US 17 53014034 53014034 single base substitution T G upstream_gene_variant SKCM-US 17 53014064 53014064 single base substitution C T 3_prime_UTR_variant SKCM-US 17 53014064 53014064 single base substitution C T exon_variant SKCM-US 17 53014064 53014064 single base substitution C T synonymous_variant A191A 573C>T SKCM-US 17 53014064 53014064 single base substitution C T synonymous_variant A226A 678C>T SKCM-US 17 53014064 53014064 single base substitution C T synonymous_variant A249A 747C>T SKCM-US 17 53014064 53014064 single base substitution C T synonymous_variant A296A 888C>T SKCM-US 17 53014064 53014064 single base substitution C T synonymous_variant A303A 909C>T SKCM-US 17 53014064 53014064 single base substitution C T upstream_gene_variant SKCM-US 17 53014581 53014581 single base substitution G A 3_prime_UTR_variant SKCM-US 17 53014581 53014581 single base substitution G A downstream_gene_variant SKCM-US 17 53014581 53014581 single base substitution G A exon_variant SKCM-US 17 53014581 53014581 single base substitution G A missense_variant G231S 691G>A SKCM-US 17 53014581 53014581 single base substitution G A missense_variant G266S 796G>A SKCM-US 17 53014581 53014581 single base substitution G A missense_variant G336S 1006G>A SKCM-US 17 53014581 53014581 single base substitution G A missense_variant G343S 1027G>A SKCM-US 17 53014581 53014581 single base substitution G A upstream_gene_variant STAD-US 17 52990096 52990097 deletion of <=200bp AA - 3_prime_UTR_variant STAD-US 17 52990096 52990097 deletion of <=200bp AA - exon_variant STAD-US 17 52990096 52990097 deletion of <=200bp AA - frameshift_variant K21 STAD-US 17 52990096 52990097 deletion of <=200bp AA - frameshift_variant K63 STAD-US 17 52990096 52990097 deletion of <=200bp AA - frameshift_variant K88 STAD-US 17 52990096 52990097 deletion of <=200bp AA - frameshift_variant K91 STAD-US 17 52990096 52990097 deletion of <=200bp AA - frameshift_variant K96 STAD-US 17 52990096 52990097 deletion of <=200bp AA - frameshift_variant K98 STAD-US 17 52990096 52990097 deletion of <=200bp AA - intron_variant STAD-US 17 52990096 52990097 deletion of <=200bp AA - upstream_gene_variant STAD-US 17 52991190 52991191 deletion of <=200bp CA - 3_prime_UTR_variant STAD-US 17 52991190 52991191 deletion of <=200bp CA - exon_variant STAD-US 17 52991190 52991191 deletion of <=200bp CA - frameshift_variant Q117 STAD-US 17 52991190 52991191 deletion of <=200bp CA - frameshift_variant Q142 STAD-US 17 52991190 52991191 deletion of <=200bp CA - frameshift_variant Q145 STAD-US 17 52991190 52991191 deletion of <=200bp CA - frameshift_variant Q150 STAD-US 17 52991190 52991191 deletion of <=200bp CA - frameshift_variant Q152 STAD-US 17 52991190 52991191 deletion of <=200bp CA - frameshift_variant Q75 STAD-US 17 52991190 52991191 deletion of <=200bp CA - frameshift_variant Q98 STAD-US 17 53014489 53014489 single base substitution C T 3_prime_UTR_variant STAD-US 17 53014489 53014489 single base substitution C T downstream_gene_variant STAD-US 17 53014489 53014489 single base substitution C T exon_variant STAD-US 17 53014489 53014489 single base substitution C T missense_variant A200V 599C>T STAD-US 17 53014489 53014489 single base substitution C T missense_variant A235V 704C>T STAD-US 17 53014489 53014489 single base substitution C T missense_variant A305V 914C>T STAD-US 17 53014489 53014489 single base substitution C T missense_variant A312V 935C>T STAD-US 17 53014489 53014489 single base substitution C T upstream_gene_variant STAD-US 17 53040139 53040139 insertion of <=200bp - A downstream_gene_variant STAD-US 17 53040766 53040766 single base substitution C T downstream_gene_variant STAD-US 17 53042077 53042077 single base substitution G A downstream_gene_variant UCEC-US 17 53014499 53014499 insertion of <=200bp - G 3_prime_UTR_variant UCEC-US 17 53014499 53014499 insertion of <=200bp - G downstream_gene_variant UCEC-US 17 53014499 53014499 insertion of <=200bp - G exon_variant UCEC-US 17 53014499 53014499 insertion of <=200bp - G frameshift_variant Q203Q? UCEC-US 17 53014499 53014499 insertion of <=200bp - G frameshift_variant Q238Q? UCEC-US 17 53014499 53014499 insertion of <=200bp - G frameshift_variant Q308Q? UCEC-US 17 53014499 53014499 insertion of <=200bp - G frameshift_variant Q315Q? UCEC-US 17 53014499 53014499 insertion of <=200bp - G upstream_gene_variant UCEC-US 17 53014508 53014508 single base substitution C T 3_prime_UTR_variant UCEC-US 17 53014508 53014508 single base substitution C T downstream_gene_variant UCEC-US 17 53014508 53014508 single base substitution C T exon_variant UCEC-US 17 53014508 53014508 single base substitution C T synonymous_variant L206L 618C>T UCEC-US 17 53014508 53014508 single base substitution C T synonymous_variant L241L 723C>T UCEC-US 17 53014508 53014508 single base substitution C T synonymous_variant L311L 933C>T UCEC-US 17 53014508 53014508 single base substitution C T synonymous_variant L318L 954C>T UCEC-US 17 53014508 53014508 single base substitution C T upstream_gene_variant UCEC-US 17 53016303 53016303 single base substitution C A 3_prime_UTR_variant UCEC-US 17 53016303 53016303 single base substitution C A downstream_gene_variant UCEC-US 17 53016303 53016303 single base substitution C A exon_variant UCEC-US 17 53016303 53016303 single base substitution C A missense_variant S239Y 716C>A UCEC-US 17 53016303 53016303 single base substitution C A missense_variant S274Y 821C>A UCEC-US 17 53016303 53016303 single base substitution C A missense_variant S344Y 1031C>A UCEC-US 17 53016303 53016303 single base substitution C A missense_variant S351Y 1052C>A UCEC-US 17 53016303 53016303 single base substitution C A missense_variant S6Y 17C>A UCEC-US 17 53026968 53026968 single base substitution G A 3_prime_UTR_variant UCEC-US 17 53026968 53026968 single base substitution G A downstream_gene_variant UCEC-US 17 53026968 53026968 single base substitution G A exon_variant UCEC-US 17 53026968 53026968 single base substitution G A synonymous_variant L312L 936G>A UCEC-US 17 53026968 53026968 single base substitution G A synonymous_variant L347L 1041G>A UCEC-US 17 53026968 53026968 single base substitution G A synonymous_variant L413L 1239G>A UCEC-US 17 53026968 53026968 single base substitution G A synonymous_variant L417L 1251G>A UCEC-US 17 53026968 53026968 single base substitution G A synonymous_variant L424L 1272G>A UCEC-US 17 53026968 53026968 single base substitution G A synonymous_variant L79L 237G>A UCEC-US 17 53037956 53037956 single base substitution A C 3_prime_UTR_variant UCEC-US 17 53037956 53037956 single base substitution A C downstream_gene_variant UCEC-US 17 53037956 53037956 single base substitution A C exon_variant UCEC-US 17 53037956 53037956 single base substitution A C missense_variant Q355P 1064A>C UCEC-US 17 53037956 53037956 single base substitution A C missense_variant Q390P 1169A>C UCEC-US 17 53037956 53037956 single base substitution A C missense_variant Q456P 1367A>C UCEC-US 17 53037956 53037956 single base substitution A C missense_variant Q460P 1379A>C UCEC-US 17 53037956 53037956 single base substitution A C missense_variant Q467P 1400A>C UCEC-US 17 53037970 53037970 single base substitution C T 3_prime_UTR_variant UCEC-US 17 53037970 53037970 single base substitution C T downstream_gene_variant UCEC-US 17 53037970 53037970 single base substitution C T exon_variant UCEC-US 17 53037970 53037970 single base substitution C T stop_gained Q360* 1078C>T UCEC-US 17 53037970 53037970 single base substitution C T stop_gained Q395* 1183C>T UCEC-US 17 53037970 53037970 single base substitution C T stop_gained Q461* 1381C>T UCEC-US 17 53037970 53037970 single base substitution C T stop_gained Q465* 1393C>T UCEC-US 17 53037970 53037970 single base substitution C T stop_gained Q472* 1414C>T

Mutation - COSMIC Sample Name Mutation ID Mutation CDS Mutation AA Mutation Description Mutation Genome Position Mutation Strand SS6003312 COSM3665203 c.1364C>T p.T455I Substitution - Missense 17:54950120-54950120 + TCGA-AA-3697-01 COSM1384551 c.674A>G p.E225G Substitution - Missense 17:54915816-54915816 + TCGA-CM-6171-01 COSM3691696 c.241C>T p.Q81* Substitution - Nonsense 17:54912684-54912684 + CSCC-35-T COSM4506159 c.712C>T p.L238F Substitution - Missense 17:54915854-54915854 + TCGA-BP-5199-01 COSM473064 c.1304A>G p.D435G Substitution - Missense 17:54950060-54950060 + BD177T COSM5517496 c.421G>A p.E141K Substitution - Missense 17:54913796-54913796 + TCGA-13-0910-01 COSM76784 c.652G>A p.V218M Substitution - Missense 17:54915794-54915794 + TCGA-D1-A0ZS-01 COSM981536 c.936C>T p.A312A Substitution - coding silent 17:54937129-54937129 + TCGA-D1-A17Q-01 COSM981538 c.954C>T p.L318L Substitution - coding silent 17:54937147-54937147 + T1184 COSM4735270 c.1232C>T p.T411I Substitution - Missense 17:54949567-54949567 + TCGA-A6-6780-01 COSM3691695 c.22C>A p.R8R Substitution - coding silent 17:54900887-54900887 + TCGA-AK-3458-01 COSM473062 c.745A>G p.M249V Substitution - Missense 17:54930097-54930097 + KM12 COSM3193979 c.1360G>A p.V454I Substitution - Missense 17:54950116-54950116 + CLL112 COSM1290730 c.411C>T p.S137S Substitution - coding silent 17:54913786-54913786 + RK182_C01 COSM1630299 c.801T>A p.V267V Substitution - coding silent 17:54930153-54930153 + TCGA-AP-A0LM-01 COSM981537 c.945_946insG p.D316fs*13 Insertion - Frameshift 17:54937138-54937139 + tumor_4112447 COSM5948428 c.1213C>T p.Q405* Substitution - Nonsense 17:54949548-54949548 + ESCC_BICR_066T COSM5444595 c.515C>G p.S172* Substitution - Nonsense 17:54914655-54914655 + TCGA-DD-A1EH-01 COSM4934194 c.378G>C p.W126C Substitution - Missense 17:54913753-54913753 + C086 COSM5540664 c.1128C>T p.P376P Substitution - coding silent 17:54939018-54939018 + TCGA-AP-A0LM-01 COSM981539 c.1052C>A p.S351Y Substitution - Missense 17:54938942-54938942 + LUAD-S01357 COSM392496 c.437_438insG p.V147fs*2 Insertion - Frameshift 17:54913812-54913813 + YUPROST COSM1710502 c.691G>A p.E231K Substitution - Missense 17:54915833-54915833 + TCGA-EE-A2MR-06 COSM3519699 c.512C>T p.S171L Substitution - Missense 17:54914652-54914652 + B105-0-Tumor COSM1750171 c.971C>T p.P324L Substitution - Missense 17:54937164-54937164 + TCGA-IR-A3LK-01 COSM4817453 c.820G>A p.E274K Substitution - Missense 17:54930172-54930172 + BD121T COSM1230061 c.412G>A p.E138K Substitution - Missense 17:54913787-54913787 + 587220 COSM1230062 c.451G>A p.V151I Substitution - Missense 17:54913826-54913826 + HT55 COSM4269057 c.944A>C p.Q315P Substitution - Missense 17:54937137-54937137 + PT53 COSM5941403 c.500C>T p.T167I Substitution - Missense 17:54914640-54914640 + HCT116 COSM3193971 c.1126delC p.P377fs*55 Deletion - Frameshift 17:54939016-54939016 + CHEWS031 COSM4579894 c.1362C>G p.V454V Substitution - coding silent 17:54950118-54950118 + TCGA-G4-6588-01 COSM5178863 c.649C>T p.R217* Substitution - Nonsense 17:54915791-54915791 + ESO-189 COSM1268300 c.298A>G p.N100D Substitution - Missense 17:54912741-54912741 + TCGA-18-3407-01 COSM706794 c.663C>T p.A221A Substitution - coding silent 17:54915805-54915805 + TCGA-ER-A19G-06 COSM3519700 c.909C>T p.A303A Substitution - coding silent 17:54936703-54936703 + ME100L COSM231376 c.1084C>T p.H362Y Substitution - Missense 17:54938974-54938974 + PD18285a COSM3770613 c.289G>T p.V97F Substitution - Missense 17:54912732-54912732 + TCGA-A6-2686-01 COSM5084869 c.286T>A p.F96I Substitution - Missense 17:54912729-54912729 + ESO-682 COSM1268301 c.270G>C p.L90L Substitution - coding silent 17:54912713-54912713 + TCGA-CK-5913-01 COSM1290730 c.411C>T p.S137S Substitution - coding silent 17:54913786-54913786 + C086 COSM5540663 c.366C>T p.F122F Substitution - coding silent 17:54912809-54912809 + TCGA-D9-A6EC-06 COSM4401531 c.879T>G p.I293M Substitution - Missense 17:54936673-54936673 + TCGA-DR-A0ZM-01 COSM460289 c.1095G>C p.M365I Substitution - Missense 17:54938985-54938985 + TCGA-AP-A059-01 COSM981542 c.1400A>C p.Q467P Substitution - Missense 17:54960595-54960595 + TCGA-60-2715-01 COSM706797 c.33C>G p.Y11* Substitution - Nonsense 17:54900898-54900898 + TCGA-D3-A3CF-06 COSM3519695 c.114C>T p.I38I Substitution - coding silent 17:54903763-54903763 + T298 COSM4735269 c.975G>C p.R325R Substitution - coding silent 17:54937168-54937168 + 06-P036 COSM4579892 c.280A>G p.K94E Substitution - Missense 17:54912723-54912723 + TCGA-AA-3715-01 COSM293695 c.1033+6T>A p.? Unknown 17:54937232-54937232 + 587262 COSM1230061 c.412G>A p.E138K Substitution - Missense 17:54913787-54913787 + TCGA-EE-A29H-06 COSM3519698 c.391C>T p.P131S Substitution - Missense 17:54913766-54913766 + HCT-116 COSM1684514 c.1130delC p.P377fs*55 Deletion - Frameshift 17:54939020-54939020 + TCGA-DK-A2I4-01 COSM3795829 c.949C>A p.L317I Substitution - Missense 17:54937142-54937142 + OSCC-GB_01250111 COSM3193975 c.1264C>T p.P422S Substitution - Missense 17:54949599-54949599 + 46M COSM1230061 c.412G>A p.E138K Substitution - Missense 17:54913787-54913787 + TCGA-EE-A2MJ-06 COSM3519697 c.268C>T p.L90L Substitution - coding silent 17:54912711-54912711 + YULETA COSM5386811 c.1142_1143GG>AA p.R381K Substitution - Missense 17:54947272-54947273 + TCGA-FV-A3R2-01 COSM4929300 c.1313C>T p.P438L Substitution - Missense 17:54950069-54950069 + TCGA-FD-A3B7-01 COSM1303070 c.114C>A p.I38I Substitution - coding silent 17:54903763-54903763 + CHEWS031 COSM4579893 c.1257_1262delGAGTCT p.S420_L421delSL Deletion - In frame 17:54949592-54949597 + TCGA-BG-A0MQ-01 COSM981540 c.1272G>A p.L424L Substitution - coding silent 17:54949607-54949607 + Pat_22_B COSM5853014 c.1130+1G>A p.? Unknown 17:54939021-54939021 + 6115121 COSM5552235 c.1342G>C p.D448H Substitution - Missense 17:54950098-54950098 + TCGA-AD-6895-01 COSM1384552 c.740G>A p.R247Q Substitution - Missense 17:54930092-54930092 + LS513 COSM3193973 c.1149C>T p.S383S Substitution - coding silent 17:54947279-54947279 + TCGA-EE-A2MJ-06 COSM3519701 c.1027G>A p.G343S Substitution - Missense 17:54937220-54937220 + TCGA-JL-A3YW-01 COSM3820020 c.1231A>G p.T411A Substitution - Missense 17:54949566-54949566 + TCGA-BR-A4QL-01 COSM4067939 c.935C>T p.A312V Substitution - Missense 17:54937128-54937128 + T55 COSM4735268 c.624A>G p.E208E Substitution - coding silent 17:54915766-54915766 + S02244 COSM5678144 c.916-1G>T p.? Unknown 17:54937108-54937108 + RKO COSM4648056 c.494A>G p.Q165R Substitution - Missense 17:54913869-54913869 + TCGA-BP-5178-01 COSM473063 c.880T>C p.L294L Substitution - coding silent 17:54936674-54936674 + HCC039T COSM5809365 c.426A>G p.V142V Substitution - coding silent 17:54913801-54913801 + B105-0 COSM1750171 c.971C>T p.P324L Substitution - Missense 17:54937164-54937164 + SS6003311 COSM3665203 c.1364C>T p.T455I Substitution - Missense 17:54950120-54950120 + TCGA-AA-3697-01 COSM1384550 c.650G>C p.R217P Substitution - Missense 17:54915792-54915792 + sysucc-783T COSM5484127 c.571A>T p.K191* Substitution - Nonsense 17:54914711-54914711 + LP6005334-DNA_G01 COSM5035006 c.1163C>G p.S388* Substitution - Nonsense 17:54947293-54947293 + pfg043T COSM4755357 c.953T>G p.L318R Substitution - Missense 17:54937146-54937146 + TCGA-B4-5834-01 COSM1494028 c.1230A>G p.Q410Q Substitution - coding silent 17:54949565-54949565 + TCGA-EJ-5521-01 COSM1130229 c.747G>T p.M249I Substitution - Missense 17:54930099-54930099 + 3N35-VS-3T35 COSM4981068 c.1336G>A p.E446K Substitution - Missense 17:54950092-54950092 + TCGA-AP-A056-01 COSM981543 c.1414C>T p.Q472* Substitution - Nonsense 17:54960609-54960609 +

Mutation - CGAP UNIGENE CYTOBAND OMIM SNP Hs.153504 17q23.2 604701

Mutation - IntOGen Mutated from(ref) Mutated to(alt) Consequence Type AA Mutation CDS Mutation Chr Pos Cancer A G Missense p.D435G c.1304A>G 17 53027421 RCCC A G Missense p.N100D c.298A>G 17 52990102 ESCA A G Missense p.T456A c.1366A>G 17 53027483 LUAD A G Missense p.Y64C c.191A>G 17 52982897 STAD A T SpliceAcceptorSNV . c.223-2A>T 17 52990025 LUAD C A Missense p.L317I c.949C>A 17 53014503 BLCA C A Synonymous p.I38I c.114C>A 17 52981124 BLCA C G Missense p.N366K c.1098C>G 17 53016349 BRCA C G Nonsense p.Y11* c.33C>G 17 52978259 LUSC C T Missense p.H362Y c.1084C>T 17 53016335 CM C T Missense p.P131S c.391C>T 17 52991127 CM C T Synonymous p.A221A c.663C>T 17 52993166 LUSC C T Synonymous p.A303A c.909C>T 17 53014064 CM C T Synonymous p.I38I c.114C>T 17 52981124 CM C T Synonymous p.L90L c.268C>T 17 52990072 CM C T Synonymous p.S137S c.411C>T 17 52991147 CLL G A Missense p.V218M c.652G>A 17 52993155 OV G A Synonymous p.L424L c.1272G>A 17 53026968 UCEC G C Missense p.D31H c.91G>C 17 52981101 LUAD G C Synonymous p.L90L c.270G>C 17 52990074 ESCA GG AA Missense p.G343N c.1027_1028delinsAA 17 53014581 CM GG AA Missense p.R381K c.1142_1143delinsAA 17 53024633 CM G T Missense p.M249I c.747G>T 17 53007460 PRAD G T Nonsense p.E138* c.412G>T 17 52991148 LUAD T C Synonymous p.L294L c.880T>C 17 53014035 RCCC TG - Frameshift p.V80Afs*18 c.239_240delTG 17 52990037 LUAD