Mutation - TCGA Type Chromosome Start Position End Position Strand Variant Classification Variant Type Reference Allele Tumor_seq Allele 1 Tumor_seq Allele 2 Tumor Sample Barcode Matched Norm Sample Barcode Genome Change cDNA Change Codon Change Protein Change BLCA 1 27939500 27939500 + Missense_Mutation SNP G G C TCGA-DK-A1AC-01A-11D-A13W-08 TCGA-DK-A1AC-10A-01D-A13W-08 g.chr1:27939500G>C c.1515C>G c.(1513-1515)ttC>ttG p.F505L BLCA 1 27940977 27940977 + Missense_Mutation SNP G G A TCGA-DK-A3X2-01A-11D-A22Z-08 TCGA-DK-A3X2-10A-01D-A22Z-08 g.chr1:27940977G>A c.1213C>T c.(1213-1215)Cgt>Tgt p.R405C BLCA 1 27941026 27941026 + Silent SNP G G T TCGA-FD-A62P-01A-32D-A30E-08 TCGA-FD-A62P-10A-01D-A30H-08 g.chr1:27941026G>T c.1164C>A c.(1162-1164)atC>atA p.I388I BLCA 1 27943478 27943478 + Missense_Mutation SNP C C G TCGA-GV-A3QK-01B-11D-A23M-08 TCGA-GV-A3QK-10A-01D-A23K-08 g.chr1:27943478C>G c.572G>C c.(571-573)aGa>aCa p.R191T BLCA 1 27948111 27948111 + Silent SNP G G A TCGA-FD-A6TB-01A-12D-A339-08 TCGA-FD-A6TB-10A-21D-A339-08 g.chr1:27948111G>A c.387C>T c.(385-387)ccC>ccT p.P129P BLCA 1 27948152 27948152 + Missense_Mutation SNP C C T TCGA-GC-A3RC-01A-11D-A22Z-08 TCGA-GC-A3RC-10B-01D-A22Z-08 g.chr1:27948152C>T c.346G>A c.(346-348)Gag>Aag p.E116K BLCA 1 27949568 27949568 + Missense_Mutation SNP T T C TCGA-GV-A3QI-01A-11D-A21Z-08 TCGA-GV-A3QI-10A-01D-A21Z-08 g.chr1:27949568T>C c.314A>G c.(313-315)cAc>cGc p.H105R BLCA 1 27950343 27950343 + Missense_Mutation SNP C C T TCGA-DK-A1AC-01A-11D-A13W-08 TCGA-DK-A1AC-10A-01D-A13W-08 g.chr1:27950343C>T c.85G>A c.(85-87)Ggg>Agg p.G29R BLCA 1 27950351 27950351 + Missense_Mutation SNP C C A TCGA-DK-A1AC-01A-11D-A13W-08 TCGA-DK-A1AC-10A-01D-A13W-08 g.chr1:27950351C>A c.77G>T c.(76-78)aGa>aTa p.R26I BLCA 1 27950379 27950379 + Nonsense_Mutation SNP C C A TCGA-DK-A2I4-01A-11D-A21A-08 TCGA-DK-A2I4-10A-01D-A21A-08 g.chr1:27950379C>A c.49G>T c.(49-51)Gag>Tag p.E17* BRCA 1 27939603 27939603 + Missense_Mutation SNP A A C TCGA-C8-A12T-01A-11D-A10Y-09 TCGA-C8-A12T-10A-01D-A110-09 g.chr1:27939603A>C c.1412T>G c.(1411-1413)gTg>gGg p.V471G BRCA 1 27939763 27939763 + Missense_Mutation SNP C C T TCGA-EW-A1OV-01A-11D-A142-09 TCGA-EW-A1OV-10A-01D-A142-09 g.chr1:27939763C>T c.1348G>A c.(1348-1350)Gag>Aag p.E450K BRCA 1 27942257 27942257 + Missense_Mutation SNP T T C TCGA-AO-A128-01A-11D-A10M-09 TCGA-AO-A128-10A-01D-A10M-09 g.chr1:27942257T>C c.781A>G c.(781-783)Agc>Ggc p.S261G CESC 1 27941981 27941981 + Missense_Mutation SNP C C T TCGA-Q1-A73O-01A-11D-A32I-09 TCGA-Q1-A73O-10B-01D-A32I-09 g.chr1:27941981C>T c.982G>A c.(982-984)Gag>Aag p.E328K CESC 1 27949617 27949617 + Missense_Mutation SNP C C T TCGA-UC-A7PF-01A-11D-A351-09 TCGA-UC-A7PF-11A-31D-A351-09 g.chr1:27949617C>T c.265G>A c.(265-267)Gag>Aag p.E89K COAD 1 27939528 27939528 + Missense_Mutation SNP C C T TCGA-CM-6171-01A-11D-1650-10 TCGA-CM-6171-10A-01D-1650-10 g.chr1:27939528C>T c.1487G>A c.(1486-1488)cGt>cAt p.R496H COAD 1 27939529 27939529 + Missense_Mutation SNP G G A TCGA-AA-3977-01A-01W-0995-10 TCGA-AA-3977-10A-01W-0999-10 g.chr1:27939529G>A c.1486C>T c.(1486-1488)Cgt>Tgt p.R496C COAD 1 27941993 27941993 + Missense_Mutation SNP C C T TCGA-AA-3855-01A-01W-0995-10 TCGA-AA-3855-10A-01W-0995-10 g.chr1:27941993C>T c.970G>A c.(970-972)Gtg>Atg p.V324M COAD 1 27950395 27950395 + Silent SNP C C T TCGA-AA-3672-01A-01W-0900-09 TCGA-AA-3672-10A-01W-0900-09 g.chr1:27950395C>T c.33G>A c.(31-33)ccG>ccA p.P11P COAD 1 27950397 27950397 + Missense_Mutation SNP G G A TCGA-AU-6004-01A-11D-1719-10 TCGA-AU-6004-10A-01D-1719-10 g.chr1:27950397G>A c.31C>T c.(31-33)Ccg>Tcg p.P11S COADREAD 1 27939528 27939528 + Missense_Mutation SNP C C T TCGA-CM-6171-01A-11D-1650-10 TCGA-CM-6171-10A-01D-1650-10 g.chr1:27939528C>T c.1487G>A c.(1486-1488)cGt>cAt p.R496H COADREAD 1 27939529 27939529 + Missense_Mutation SNP G G A TCGA-AA-3977-01A-01W-0995-10 TCGA-AA-3977-10A-01W-0999-10 g.chr1:27939529G>A c.1486C>T c.(1486-1488)Cgt>Tgt p.R496C COADREAD 1 27941993 27941993 + Missense_Mutation SNP C C T TCGA-AA-3855-01A-01W-0995-10 TCGA-AA-3855-10A-01W-0995-10 g.chr1:27941993C>T c.970G>A c.(970-972)Gtg>Atg p.V324M COADREAD 1 27950395 27950395 + Silent SNP C C T TCGA-AA-3672-01A-01W-0900-09 TCGA-AA-3672-10A-01W-0900-09 g.chr1:27950395C>T c.33G>A c.(31-33)ccG>ccA p.P11P COADREAD 1 27950397 27950397 + Missense_Mutation SNP G G A TCGA-AU-6004-01A-11D-1719-10 TCGA-AU-6004-10A-01D-1719-10 g.chr1:27950397G>A c.31C>T c.(31-33)Ccg>Tcg p.P11S ESCA 1 27942113 27942113 + Missense_Mutation SNP C C T TCGA-R6-A6KZ-01A-11D-A31U-09 TCGA-R6-A6KZ-10A-01D-A31U-09 g.chr1:27942113C>T c.850G>A c.(850-852)Ggc>Agc p.G284S ESCA 1 27942244 27942244 + Missense_Mutation SNP A A G TCGA-L5-A88S-01A-11D-A36J-09 TCGA-L5-A88S-11A-21D-A36M-09 g.chr1:27942244A>G c.794T>C c.(793-795)cTg>cCg p.L265P GBMLGG 1 27943402 27943402 + Silent SNP G G A TCGA-HT-7606-01A-11D-2086-08 TCGA-HT-7606-10A-01D-2086-08 g.chr1:27943402G>A c.648C>T c.(646-648)ttC>ttT p.F216F HNSC 1 27941035 27941035 + Silent SNP T T C TCGA-F7-A624-01A-22D-A30E-08 TCGA-F7-A624-10A-01D-A30H-08 g.chr1:27941035T>C c.1155A>G c.(1153-1155)gcA>gcG p.A385A HNSC 1 27942093 27942093 + Silent SNP C C T TCGA-CV-7427-01A-11D-2078-08 TCGA-CV-7427-10A-01D-2078-08 g.chr1:27942093C>T c.870G>A c.(868-870)gtG>gtA p.V290V HNSC 1 27948071 27948071 + Splice_Site SNP C C T TCGA-CQ-7071-01A-12D-A30E-08 TCGA-CQ-7071-10A-01D-A30H-08 g.chr1:27948071C>T c.427G>A c.(427-429)Gag>Aag p.E143K HNSC 1 27949593 27949593 + Missense_Mutation SNP T T A TCGA-CV-7245-01A-11D-2012-08 TCGA-CV-7245-10A-01D-2013-08 g.chr1:27949593T>A c.289A>T c.(289-291)Acc>Tcc p.T97S KIPAN 1 27941092 27941092 + Silent SNP T T C TCGA-BP-4775-01A-01D-1366-10 TCGA-BP-4775-11A-01D-1367-10 g.chr1:27941092T>C c.1098A>G c.(1096-1098)gtA>gtG p.V366V KIPAN 1 27943445 27943445 + Missense_Mutation SNP T T A TCGA-B1-A656-01A-11D-A31X-10 TCGA-B1-A656-10A-01D-A31X-10 g.chr1:27943445T>A c.605A>T c.(604-606)aAa>aTa p.K202I KIPAN 1 27943508 27943508 + Missense_Mutation SNP G G A TCGA-B9-4116-01A-01D-1252-08 TCGA-B9-4116-10A-01D-1252-08 g.chr1:27943508G>A c.542C>T c.(541-543)tCc>tTc p.S181F KIRC 1 27941092 27941092 + Silent SNP T T C TCGA-BP-4775-01A-01D-1366-10 TCGA-BP-4775-11A-01D-1367-10 g.chr1:27941092T>C c.1098A>G c.(1096-1098)gtA>gtG p.V366V KIRP 1 27943445 27943445 + Missense_Mutation SNP T T A TCGA-B1-A656-01A-11D-A31X-10 TCGA-B1-A656-10A-01D-A31X-10 g.chr1:27943445T>A c.605A>T c.(604-606)aAa>aTa p.K202I KIRP 1 27943508 27943508 + Missense_Mutation SNP G G A TCGA-B9-4116-01A-01D-1252-08 TCGA-B9-4116-10A-01D-1252-08 g.chr1:27943508G>A c.542C>T c.(541-543)tCc>tTc p.S181F LGG 1 27943402 27943402 + Silent SNP G G A TCGA-HT-7606-01A-11D-2086-08 TCGA-HT-7606-10A-01D-2086-08 g.chr1:27943402G>A c.648C>T c.(646-648)ttC>ttT p.F216F LIHC 1 27939760 27939760 + Missense_Mutation SNP G G T TCGA-CC-A7II-01A-11D-A33K-10 TCGA-CC-A7II-10A-01D-A33K-10 g.chr1:27939760G>T c.1351C>A c.(1351-1353)Ctc>Atc p.L451I LIHC 1 27941376 27941376 + Silent SNP C C A TCGA-DD-A4NQ-01A-21D-A28X-10 TCGA-DD-A4NQ-10A-01D-A28X-10 g.chr1:27941376C>A c.1080G>T c.(1078-1080)gtG>gtT p.V360V LIHC 1 27942229 27942229 + Missense_Mutation SNP C C G TCGA-UB-A7MD-01A-12D-A34Z-10 TCGA-UB-A7MD-10A-01D-A34Z-10 g.chr1:27942229C>G c.809G>C c.(808-810)gGc>gCc p.G270A LIHC 1 27950421 27950421 + Missense_Mutation SNP A A G TCGA-BC-A3KG-01A-11D-A20W-10 TCGA-BC-A3KG-10A-01D-A20W-10 g.chr1:27950421A>G c.7T>C c.(7-9)Tgt>Cgt p.C3R LUAD 1 27939493 27939493 + Silent SNP G G A TCGA-17-Z056-01A-01W-0747-08 TCGA-17-Z056-11A-01W-0747-08 g.chr1:27939493G>A c.1522C>T c.(1522-1524)Ctg>Ttg p.L508L LUAD 1 27942117 27942117 + Nonsense_Mutation SNP C C T TCGA-78-7539-01A-11D-2063-08 TCGA-78-7539-10A-01D-2063-08 g.chr1:27942117C>T c.846G>A c.(844-846)tgG>tgA p.W282* LUAD 1 27942236 27942236 + Missense_Mutation SNP G G A TCGA-55-8206-01A-11D-2238-08 TCGA-55-8206-10A-01D-2238-08 g.chr1:27942236G>A c.802C>T c.(802-804)Cgg>Tgg p.R268W LUAD 1 27943704 27943704 + Splice_Site SNP C C A TCGA-05-4397-01A-01D-1265-08 TCGA-05-4397-10A-01D-1265-08 g.chr1:27943704C>A c.532G>T c.(532-534)Ggt>Tgt p.G178C LUAD 1 27949588 27949588 + Silent SNP G G A TCGA-69-8253-01A-11D-2284-08 TCGA-69-8253-10A-01D-2284-08 g.chr1:27949588G>A c.294C>T c.(292-294)ttC>ttT p.F98F LUAD 1 27949604 27949604 + Missense_Mutation SNP T T G TCGA-69-8254-01A-11D-2284-08 TCGA-69-8254-10A-01D-2284-08 g.chr1:27949604T>G c.278A>C c.(277-279)gAg>gCg p.E93A LUAD 1 27949654 27949654 + Splice_Site SNP C C T TCGA-64-5775-01A-01D-1625-08 TCGA-64-5775-10A-01D-1625-08 g.chr1:27949654C>T c.228G>A c.(226-228)ggG>ggA p.G76G LUAD 1 27950358 27950358 + Missense_Mutation SNP C C A TCGA-17-Z031-01A-01W-0746-08 TCGA-17-Z031-11A-01W-0746-08 g.chr1:27950358C>A c.70G>T c.(70-72)Gac>Tac p.D24Y OV 1 27942022 27942022 + Missense_Mutation SNP C C T TCGA-30-1718-01A-01W-0633-09 TCGA-30-1718-10A-01W-0633-09 g.chr1:27942022C>T c.941G>A c.(940-942)cGg>cAg p.R314Q PAAD 1 27939553 27939553 + Missense_Mutation SNP A A G TCGA-IB-7651-01A-11D-2154-08 TCGA-IB-7651-10A-01D-2154-08 g.chr1:27939553A>G c.1462T>C c.(1462-1464)Tac>Cac p.Y488H PRAD 1 27939804 27939804 + Missense_Mutation SNP G G T TCGA-XJ-A9DX-01A-11D-A377-08 TCGA-XJ-A9DX-10A-01D-A37A-08 g.chr1:27939804G>T c.1307C>A c.(1306-1308)aCc>aAc p.T436N SARC 1 27943478 27943478 + Missense_Mutation SNP C C A TCGA-HB-A43Z-01A-11D-A24N-09 TCGA-HB-A43Z-10A-01D-A24N-09 g.chr1:27943478C>A c.572G>T c.(571-573)aGa>aTa p.R191I SKCM 1 27939461 27939461 + Silent SNP G G A TCGA-FS-A1ZH-06A-11D-A197-08 TCGA-FS-A1ZH-10A-01D-A199-08 g.chr1:27939461G>A c.1554C>T c.(1552-1554)tcC>tcT p.S518S SKCM 1 27939619 27939619 + Missense_Mutation SNP C C T TCGA-GF-A6C9-06A-11D-A30X-08 TCGA-GF-A6C9-10A-01D-A30X-08 g.chr1:27939619C>T c.1396G>A c.(1396-1398)Gaa>Aaa p.E466K SKCM 1 27939754 27939754 + Missense_Mutation SNP T T G TCGA-DA-A1I5-06A-11D-A197-08 TCGA-DA-A1I5-10A-01D-A199-08 g.chr1:27939754T>G c.1357A>C c.(1357-1359)Acc>Ccc p.T453P SKCM 1 27939826 27939826 + Missense_Mutation SNP C C T TCGA-FW-A3R5-06A-11D-A23B-08 TCGA-FW-A3R5-10A-01D-A23B-08 g.chr1:27939826C>T c.1285G>A c.(1285-1287)Gct>Act p.A429T SKCM 1 27941044 27941044 + Silent SNP G G A TCGA-FW-A3R5-06A-11D-A23B-08 TCGA-FW-A3R5-10A-01D-A23B-08 g.chr1:27941044G>A c.1146C>T c.(1144-1146)gaC>gaT p.D382D SKCM 1 27941432 27941432 + Silent SNP A A G TCGA-ER-A42K-06A-11D-A24R-08 TCGA-ER-A42K-10A-01D-A24R-08 g.chr1:27941432A>G c.1024T>C c.(1024-1026)Ttg>Ctg p.L342L SKCM 1 27942047 27942047 + Missense_Mutation SNP C C T TCGA-DA-A1I4-06A-11D-A196-08 TCGA-DA-A1I4-10A-01D-A198-08 g.chr1:27942047C>T c.916G>A c.(916-918)Gag>Aag p.E306K SKCM 1 27942078 27942078 + Silent SNP C C T TCGA-D3-A2J9-06A-11D-A196-08 TCGA-D3-A2J9-10A-01D-A198-08 g.chr1:27942078C>T c.885G>A c.(883-885)ccG>ccA p.P295P SKCM 1 27942117 27942117 + Nonsense_Mutation SNP C C T TCGA-ER-A193-06A-12D-A197-08 TCGA-ER-A193-10A-01D-A199-08 g.chr1:27942117C>T c.846G>A c.(844-846)tgG>tgA p.W282* SKCM 1 27943473 27943473 + Missense_Mutation SNP C C T TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 g.chr1:27943473C>T c.577G>A c.(577-579)Gat>Aat p.D193N SKCM 1 27943722 27943722 + Missense_Mutation SNP C C T TCGA-FW-A3R5-06A-11D-A23B-08 TCGA-FW-A3R5-10A-01D-A23B-08 g.chr1:27943722C>T c.514G>A c.(514-516)Gaa>Aaa p.E172K SKCM 1 27943740 27943740 + Missense_Mutation SNP C C T TCGA-EE-A2GL-06A-11D-A196-08 TCGA-EE-A2GL-10A-01D-A198-08 g.chr1:27943740C>T c.496G>A c.(496-498)Ggg>Agg p.G166R SKCM 1 27943796 27943796 + Missense_Mutation SNP C C T TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 g.chr1:27943796C>T c.440G>A c.(439-441)gGa>gAa p.G147E SKCM 1 27948152 27948152 + Missense_Mutation SNP C C T TCGA-FW-A3R5-06A-11D-A23B-08 TCGA-FW-A3R5-10A-01D-A23B-08 g.chr1:27948152C>T c.346G>A c.(346-348)Gag>Aag p.E116K SKCM 1 27949610 27949610 + Missense_Mutation SNP C C T TCGA-FW-A3R5-06A-11D-A23B-08 TCGA-FW-A3R5-10A-01D-A23B-08 g.chr1:27949610C>T c.272G>A c.(271-273)cGa>cAa p.R91Q SKCM 1 27949630 27949630 + Silent SNP G G A TCGA-EE-A3AG-06A-31D-A196-08 TCGA-EE-A3AG-10A-01D-A198-08 g.chr1:27949630G>A c.252C>T c.(250-252)gcC>gcT p.A84A SKCM 1 27949640 27949640 + Missense_Mutation SNP A A C TCGA-DA-A1HV-06A-21D-A196-08 TCGA-DA-A1HV-10A-01D-A198-08 g.chr1:27949640A>C c.242T>G c.(241-243)cTg>cGg p.L81R SKCM 1 27949645 27949645 + Silent SNP C C T TCGA-FW-A3R5-06A-11D-A23B-08 TCGA-FW-A3R5-10A-01D-A23B-08 g.chr1:27949645C>T c.237G>A c.(235-237)gtG>gtA p.V79V SKCM 1 27949654 27949654 + Splice_Site SNP C C T TCGA-D3-A51T-06A-11D-A25O-08 TCGA-D3-A51T-10A-01D-A25O-08 g.chr1:27949654C>T c.228G>A c.(226-228)ggG>ggA p.G76G

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 1 27941394 27941394 single base substitution C G downstream_gene_variant BLCA-CN 1 27941394 27941394 single base substitution C G missense_variant L288F 864G>C BLCA-CN 1 27941394 27941394 single base substitution C G missense_variant L354F 1062G>C BLCA-CN 1 27948140 27948140 single base substitution G C downstream_gene_variant BLCA-CN 1 27948140 27948140 single base substitution G C intron_variant BLCA-CN 1 27948140 27948140 single base substitution G C missense_variant L120V 358C>G BLCA-US 1 27939500 27939500 single base substitution G C downstream_gene_variant BLCA-US 1 27939500 27939500 single base substitution G C missense_variant F439L 1317C>G BLCA-US 1 27939500 27939500 single base substitution G C missense_variant F505L 1515C>G BLCA-US 1 27943478 27943478 single base substitution C G missense_variant R125T 374G>C BLCA-US 1 27943478 27943478 single base substitution C G missense_variant R191T 572G>C BLCA-US 1 27948152 27948152 single base substitution C T downstream_gene_variant BLCA-US 1 27948152 27948152 single base substitution C T intron_variant BLCA-US 1 27948152 27948152 single base substitution C T missense_variant E116K 346G>A BLCA-US 1 27949568 27949568 single base substitution T C downstream_gene_variant BLCA-US 1 27949568 27949568 single base substitution T C missense_variant H105R 314A>G BLCA-US 1 27950343 27950343 single base substitution C T exon_variant BLCA-US 1 27950343 27950343 single base substitution C T missense_variant G29R 85G>A BLCA-US 1 27950351 27950351 single base substitution C A exon_variant BLCA-US 1 27950351 27950351 single base substitution C A missense_variant R26I 77G>T BLCA-US 1 27950379 27950379 single base substitution C A exon_variant BLCA-US 1 27950379 27950379 single base substitution C A stop_gained E17* 49G>T BRCA-EU 1 27936739 27936739 single base substitution G T downstream_gene_variant BRCA-EU 1 27936779 27936779 single base substitution G A downstream_gene_variant BRCA-EU 1 27936867 27936867 single base substitution G T downstream_gene_variant BRCA-EU 1 27936995 27936995 single base substitution C T downstream_gene_variant BRCA-EU 1 27937013 27937013 single base substitution A T downstream_gene_variant BRCA-EU 1 27937544 27937544 single base substitution C T downstream_gene_variant BRCA-EU 1 27942047 27942047 single base substitution C T missense_variant E240K 718G>A BRCA-EU 1 27942047 27942047 single base substitution C T missense_variant E306K 916G>A BRCA-EU 1 27945546 27945546 single base substitution C T downstream_gene_variant BRCA-EU 1 27945546 27945546 single base substitution C T intron_variant BRCA-EU 1 27946274 27946274 single base substitution G C downstream_gene_variant BRCA-EU 1 27946274 27946274 single base substitution G C intron_variant BRCA-EU 1 27946492 27946492 deletion of <=200bp T - downstream_gene_variant BRCA-EU 1 27946492 27946492 deletion of <=200bp T - intron_variant BRCA-EU 1 27950323 27950323 single base substitution C A exon_variant BRCA-EU 1 27950323 27950323 single base substitution C A synonymous_variant G35G 105G>T BRCA-EU 1 27950436 27950436 single base substitution C G 5_prime_UTR_variant BRCA-EU 1 27950436 27950436 single base substitution C G exon_variant BRCA-EU 1 27952310 27952310 single base substitution C T intron_variant BRCA-EU 1 27952310 27952310 single base substitution C T upstream_gene_variant BRCA-EU 1 27953034 27953034 single base substitution C T 5_prime_UTR_variant BRCA-EU 1 27953034 27953034 single base substitution C T intron_variant BRCA-EU 1 27953034 27953034 single base substitution C T upstream_gene_variant BRCA-EU 1 27954573 27954573 single base substitution C G intron_variant BRCA-EU 1 27954573 27954573 single base substitution C G upstream_gene_variant BRCA-EU 1 27954574 27954574 single base substitution T G intron_variant BRCA-EU 1 27954574 27954574 single base substitution T G upstream_gene_variant BRCA-EU 1 27955548 27955548 single base substitution G C intron_variant BRCA-EU 1 27955548 27955548 single base substitution G C upstream_gene_variant BRCA-EU 1 27956815 27956815 single base substitution C T intron_variant BRCA-EU 1 27956815 27956815 single base substitution C T upstream_gene_variant BRCA-EU 1 27957167 27957167 single base substitution C G intron_variant BRCA-EU 1 27957167 27957167 single base substitution C G upstream_gene_variant BRCA-EU 1 27957475 27957475 single base substitution T C intron_variant BRCA-EU 1 27957475 27957475 single base substitution T C upstream_gene_variant BRCA-EU 1 27958599 27958599 single base substitution C A intron_variant BRCA-EU 1 27959234 27959234 single base substitution C T intron_variant BRCA-EU 1 27960403 27960403 single base substitution G C intron_variant BRCA-EU 1 27960891 27960891 single base substitution C T intron_variant BRCA-EU 1 27964893 27964893 single base substitution T C upstream_gene_variant BRCA-EU 1 27965637 27965637 single base substitution G C upstream_gene_variant BRCA-FR 1 27936779 27936779 single base substitution G A downstream_gene_variant BRCA-FR 1 27937544 27937544 single base substitution C T downstream_gene_variant BRCA-FR 1 27959234 27959234 single base substitution C T intron_variant BRCA-FR 1 27963068 27963068 single base substitution A G upstream_gene_variant BRCA-UK 1 27943021 27943021 single base substitution C G intron_variant BRCA-UK 1 27943725 27943725 single base substitution G A intron_variant BRCA-UK 1 27943725 27943725 single base substitution G A missense_variant R171W 511C>T BRCA-UK 1 27955019 27955019 single base substitution T C intron_variant BRCA-UK 1 27955019 27955019 single base substitution T C upstream_gene_variant BRCA-UK 1 27957475 27957475 single base substitution T C intron_variant BRCA-UK 1 27957475 27957475 single base substitution T C upstream_gene_variant BRCA-US 1 27939603 27939603 single base substitution A C downstream_gene_variant BRCA-US 1 27939603 27939603 single base substitution A C missense_variant V405G 1214T>G BRCA-US 1 27939603 27939603 single base substitution A C missense_variant V471G 1412T>G BRCA-US 1 27939763 27939763 single base substitution C T downstream_gene_variant BRCA-US 1 27939763 27939763 single base substitution C T missense_variant E384K 1150G>A BRCA-US 1 27939763 27939763 single base substitution C T missense_variant E450K 1348G>A BRCA-US 1 27942257 27942257 single base substitution T C missense_variant S195G 583A>G BRCA-US 1 27942257 27942257 single base substitution T C missense_variant S261G 781A>G BTCA-JP 1 27940996 27940996 single base substitution G T downstream_gene_variant BTCA-JP 1 27940996 27940996 single base substitution G T synonymous_variant I332I 996C>A BTCA-JP 1 27940996 27940996 single base substitution G T synonymous_variant I398I 1194C>A CESC-US 1 27941981 27941981 single base substitution C T downstream_gene_variant CESC-US 1 27941981 27941981 single base substitution C T missense_variant E262K 784G>A CESC-US 1 27941981 27941981 single base substitution C T missense_variant E328K 982G>A CESC-US 1 27949617 27949617 single base substitution C T downstream_gene_variant CESC-US 1 27949617 27949617 single base substitution C T missense_variant E89K 265G>A CLLE-ES 1 27933865 27933865 single base substitution C T downstream_gene_variant CLLE-ES 1 27945550 27945550 single base substitution T A downstream_gene_variant CLLE-ES 1 27945550 27945550 single base substitution T A intron_variant CLLE-ES 1 27955034 27955034 single base substitution A G intron_variant CLLE-ES 1 27955034 27955034 single base substitution A G upstream_gene_variant COAD-US 1 27939528 27939528 single base substitution C T downstream_gene_variant COAD-US 1 27939528 27939528 single base substitution C T missense_variant R430H 1289G>A COAD-US 1 27939528 27939528 single base substitution C T missense_variant R496H 1487G>A COAD-US 1 27950397 27950397 single base substitution G A exon_variant COAD-US 1 27950397 27950397 single base substitution G A missense_variant P11S 31C>T COCA-CN 1 27939720 27939720 single base substitution C T downstream_gene_variant COCA-CN 1 27939720 27939720 single base substitution C T intron_variant COCA-CN 1 27942113 27942113 single base substitution C T missense_variant G218S 652G>A COCA-CN 1 27942113 27942113 single base substitution C T missense_variant G284S 850G>A COCA-CN 1 27942196 27942196 single base substitution G A splice_region_variant COCA-CN 1 27950387 27950387 single base substitution G A exon_variant COCA-CN 1 27950387 27950387 single base substitution G A missense_variant T14M 41C>T COCA-CN 1 27953931 27953931 single base substitution G A intron_variant COCA-CN 1 27953931 27953931 single base substitution G A upstream_gene_variant EOPC-DE 1 27946309 27946309 single base substitution G A downstream_gene_variant EOPC-DE 1 27946309 27946309 single base substitution G A intron_variant EOPC-DE 1 27954941 27954941 single base substitution C A intron_variant EOPC-DE 1 27954941 27954941 single base substitution C A upstream_gene_variant ESAD-UK 1 27934412 27934412 single base substitution G A downstream_gene_variant ESAD-UK 1 27935622 27935622 single base substitution C T downstream_gene_variant ESAD-UK 1 27936277 27936277 single base substitution T G downstream_gene_variant ESAD-UK 1 27938775 27938775 single base substitution G A 3_prime_UTR_variant ESAD-UK 1 27938775 27938775 single base substitution G A downstream_gene_variant ESAD-UK 1 27938976 27938976 single base substitution C G 3_prime_UTR_variant ESAD-UK 1 27938976 27938976 single base substitution C G downstream_gene_variant ESAD-UK 1 27942709 27942709 single base substitution T G intron_variant ESAD-UK 1 27942843 27942843 single base substitution G A intron_variant ESAD-UK 1 27944022 27944022 single base substitution C T intron_variant ESAD-UK 1 27944344 27944344 single base substitution C T intron_variant ESAD-UK 1 27946933 27946933 single base substitution T C downstream_gene_variant ESAD-UK 1 27946933 27946933 single base substitution T C intron_variant ESAD-UK 1 27947675 27947675 single base substitution T G downstream_gene_variant ESAD-UK 1 27947675 27947675 single base substitution T G intron_variant ESAD-UK 1 27947723 27947723 single base substitution C A downstream_gene_variant ESAD-UK 1 27947723 27947723 single base substitution C A intron_variant ESAD-UK 1 27950408 27950408 single base substitution T G exon_variant ESAD-UK 1 27950408 27950408 single base substitution T G missense_variant K7T 20A>C ESAD-UK 1 27951361 27951361 single base substitution G A intron_variant ESAD-UK 1 27951361 27951361 single base substitution G A upstream_gene_variant ESAD-UK 1 27954225 27954225 single base substitution T G intron_variant ESAD-UK 1 27954225 27954225 single base substitution T G upstream_gene_variant ESAD-UK 1 27954607 27954607 single base substitution A G intron_variant ESAD-UK 1 27954607 27954607 single base substitution A G upstream_gene_variant ESAD-UK 1 27954706 27954706 single base substitution A C intron_variant ESAD-UK 1 27954706 27954706 single base substitution A C upstream_gene_variant ESAD-UK 1 27954754 27954754 single base substitution G A intron_variant ESAD-UK 1 27954754 27954754 single base substitution G A upstream_gene_variant ESAD-UK 1 27957094 27957095 deletion of <=200bp GA - intron_variant ESAD-UK 1 27957094 27957095 deletion of <=200bp GA - upstream_gene_variant ESAD-UK 1 27959652 27959652 single base substitution C T intron_variant ESAD-UK 1 27961495 27961495 single base substitution T A intron_variant ESAD-UK 1 27962387 27962387 deletion of <=200bp A - upstream_gene_variant ESAD-UK 1 27964571 27964571 single base substitution G A upstream_gene_variant ESCA-CN 1 27942096 27942096 single base substitution C T synonymous_variant A223A 669G>A ESCA-CN 1 27942096 27942096 single base substitution C T synonymous_variant A289A 867G>A ESCA-CN 1 27942247 27942247 single base substitution G A missense_variant T198M 593C>T ESCA-CN 1 27942247 27942247 single base substitution G A missense_variant T264M 791C>T KIRC-US 1 27941092 27941092 single base substitution T C downstream_gene_variant KIRC-US 1 27941092 27941092 single base substitution T C splice_region_variant KIRP-US 1 27943445 27943445 single base substitution T A missense_variant K136I 407A>T KIRP-US 1 27943445 27943445 single base substitution T A missense_variant K202I 605A>T LAML-KR 1 27948251 27948251 single base substitution C T downstream_gene_variant LAML-KR 1 27948251 27948251 single base substitution C T intron_variant LAML-KR 1 27950343 27950343 single base substitution C T exon_variant LAML-KR 1 27950343 27950343 single base substitution C T missense_variant G29R 85G>A LGG-US 1 27943402 27943402 single base substitution G A synonymous_variant F150F 450C>T LGG-US 1 27943402 27943402 single base substitution G A synonymous_variant F216F 648C>T LICA-FR 1 27939788 27939788 single base substitution C A downstream_gene_variant LICA-FR 1 27939788 27939788 single base substitution C A synonymous_variant V375V 1125G>T LICA-FR 1 27939788 27939788 single base substitution C A synonymous_variant V441V 1323G>T LICA-FR 1 27958957 27958957 single base substitution C A intron_variant LIHC-US 1 27939760 27939760 single base substitution G T downstream_gene_variant LIHC-US 1 27939760 27939760 single base substitution G T missense_variant L385I 1153C>A LIHC-US 1 27939760 27939760 single base substitution G T missense_variant L451I 1351C>A LIHC-US 1 27941376 27941376 single base substitution C A downstream_gene_variant LIHC-US 1 27941376 27941376 single base substitution C A synonymous_variant V294V 882G>T LIHC-US 1 27941376 27941376 single base substitution C A synonymous_variant V360V 1080G>T LIHC-US 1 27942229 27942229 single base substitution C G missense_variant G204A 611G>C LIHC-US 1 27942229 27942229 single base substitution C G missense_variant G270A 809G>C LIHC-US 1 27942344 27942344 single base substitution C T missense_variant G166R 496G>A LIHC-US 1 27942344 27942344 single base substitution C T missense_variant G232R 694G>A LIHC-US 1 27949607 27949607 single base substitution G T downstream_gene_variant LIHC-US 1 27949607 27949607 single base substitution G T missense_variant T92N 275C>A LINC-JP 1 27940472 27940472 single base substitution T A downstream_gene_variant LINC-JP 1 27940472 27940472 single base substitution T A intron_variant LINC-JP 1 27941140 27941140 single base substitution A G downstream_gene_variant LINC-JP 1 27941140 27941140 single base substitution A G intron_variant LINC-JP 1 27942386 27942386 single base substitution G A intron_variant LINC-JP 1 27949174 27949174 single base substitution G A downstream_gene_variant LINC-JP 1 27949174 27949174 single base substitution G A intron_variant LINC-JP 1 27949654 27949654 single base substitution C A downstream_gene_variant LINC-JP 1 27949654 27949654 single base substitution C A splice_region_variant LINC-JP 1 27957094 27957095 deletion of <=200bp GA - intron_variant LINC-JP 1 27957094 27957095 deletion of <=200bp GA - upstream_gene_variant LIRI-JP 1 27935565 27935565 single base substitution G A downstream_gene_variant LIRI-JP 1 27935768 27935768 single base substitution C T downstream_gene_variant LIRI-JP 1 27939454 27939454 single base substitution G T downstream_gene_variant LIRI-JP 1 27939454 27939454 single base substitution G T missense_variant P455T 1363C>A LIRI-JP 1 27939454 27939454 single base substitution G T missense_variant P521T 1561C>A LIRI-JP 1 27940831 27940831 single base substitution T C downstream_gene_variant LIRI-JP 1 27940831 27940831 single base substitution T C intron_variant LIRI-JP 1 27941038 27941038 single base substitution C T downstream_gene_variant LIRI-JP 1 27941038 27941038 single base substitution C T synonymous_variant R318R 954G>A LIRI-JP 1 27941038 27941038 single base substitution C T synonymous_variant R384R 1152G>A LIRI-JP 1 27942690 27942690 single base substitution G A intron_variant LIRI-JP 1 27945324 27945324 single base substitution G A downstream_gene_variant LIRI-JP 1 27945324 27945324 single base substitution G A intron_variant LIRI-JP 1 27946683 27946683 single base substitution C T downstream_gene_variant LIRI-JP 1 27946683 27946683 single base substitution C T intron_variant LIRI-JP 1 27946784 27946784 single base substitution C T downstream_gene_variant LIRI-JP 1 27946784 27946784 single base substitution C T intron_variant LIRI-JP 1 27947238 27947238 single base substitution A G downstream_gene_variant LIRI-JP 1 27947238 27947238 single base substitution A G intron_variant LIRI-JP 1 27947810 27947810 single base substitution G T downstream_gene_variant LIRI-JP 1 27947810 27947810 single base substitution G T intron_variant LIRI-JP 1 27949723 27949723 single base substitution A T downstream_gene_variant LIRI-JP 1 27949723 27949723 single base substitution A T intron_variant LIRI-JP 1 27950101 27950101 single base substitution C A exon_variant LIRI-JP 1 27950101 27950101 single base substitution C A intron_variant LIRI-JP 1 27951476 27951476 single base substitution C T intron_variant LIRI-JP 1 27951476 27951476 single base substitution C T upstream_gene_variant LIRI-JP 1 27954096 27954096 single base substitution T G intron_variant LIRI-JP 1 27954096 27954096 single base substitution T G upstream_gene_variant LIRI-JP 1 27954149 27954149 single base substitution C T intron_variant LIRI-JP 1 27954149 27954149 single base substitution C T upstream_gene_variant LIRI-JP 1 27955152 27955152 single base substitution T C intron_variant LIRI-JP 1 27955152 27955152 single base substitution T C upstream_gene_variant LIRI-JP 1 27955174 27955174 single base substitution C A intron_variant LIRI-JP 1 27955174 27955174 single base substitution C A upstream_gene_variant LIRI-JP 1 27955905 27955905 single base substitution G A intron_variant LIRI-JP 1 27955905 27955905 single base substitution G A upstream_gene_variant LIRI-JP 1 27956606 27956606 single base substitution C A intron_variant LIRI-JP 1 27956606 27956606 single base substitution C A upstream_gene_variant LIRI-JP 1 27958631 27958631 insertion of <=200bp - TTCTTC intron_variant LIRI-JP 1 27964685 27964685 single base substitution G A upstream_gene_variant LIRI-JP 1 27965420 27965420 single base substitution T C upstream_gene_variant LIRI-JP 1 27966174 27966174 single base substitution T C upstream_gene_variant LIRI-JP 1 27966443 27966443 single base substitution C T upstream_gene_variant LUSC-KR 1 27935580 27935580 single base substitution C A downstream_gene_variant LUSC-KR 1 27935581 27935581 single base substitution A G downstream_gene_variant LUSC-KR 1 27937632 27937632 single base substitution G A downstream_gene_variant LUSC-KR 1 27957382 27957382 single base substitution C A intron_variant LUSC-KR 1 27957382 27957382 single base substitution C A upstream_gene_variant LUSC-KR 1 27957600 27957600 single base substitution T A intron_variant LUSC-KR 1 27957600 27957600 single base substitution T A upstream_gene_variant LUSC-KR 1 27959276 27959276 single base substitution G T intron_variant LUSC-KR 1 27960727 27960727 single base substitution T C intron_variant LUSC-KR 1 27961132 27961132 single base substitution A C intron_variant LUSC-KR 1 27963255 27963255 single base substitution A T upstream_gene_variant MALY-DE 1 27942069 27942069 single base substitution C G missense_variant M232I 696G>C MALY-DE 1 27942069 27942069 single base substitution C G missense_variant M298I 894G>C MALY-DE 1 27947571 27947571 single base substitution G T downstream_gene_variant MALY-DE 1 27947571 27947571 single base substitution G T intron_variant MALY-DE 1 27953259 27953259 single base substitution G A intron_variant MALY-DE 1 27953259 27953259 single base substitution G A upstream_gene_variant MALY-DE 1 27958288 27958288 single base substitution T C intron_variant MALY-DE 1 27963254 27963255 deletion of <=200bp GA - upstream_gene_variant MELA-AU 1 27934041 27934041 single base substitution C T downstream_gene_variant MELA-AU 1 27934134 27934134 single base substitution C T downstream_gene_variant MELA-AU 1 27934272 27934272 single base substitution G A downstream_gene_variant MELA-AU 1 27934540 27934540 single base substitution G A downstream_gene_variant MELA-AU 1 27934547 27934547 single base substitution G A downstream_gene_variant MELA-AU 1 27934820 27934820 single base substitution C A downstream_gene_variant MELA-AU 1 27935003 27935003 single base substitution C T downstream_gene_variant MELA-AU 1 27935197 27935197 single base substitution G A downstream_gene_variant MELA-AU 1 27935269 27935270 multiple base substitution (>=2bp and <=200bp) GG AA downstream_gene_variant MELA-AU 1 27935648 27935648 single base substitution G A downstream_gene_variant MELA-AU 1 27936078 27936078 single base substitution G A downstream_gene_variant MELA-AU 1 27936132 27936132 single base substitution C T downstream_gene_variant MELA-AU 1 27936225 27936225 single base substitution C T downstream_gene_variant MELA-AU 1 27936304 27936304 single base substitution C A downstream_gene_variant MELA-AU 1 27936305 27936305 single base substitution T C downstream_gene_variant MELA-AU 1 27936476 27936476 single base substitution G A downstream_gene_variant MELA-AU 1 27936559 27936560 multiple base substitution (>=2bp and <=200bp) GG AA downstream_gene_variant MELA-AU 1 27936560 27936560 single base substitution G A downstream_gene_variant MELA-AU 1 27936657 27936658 multiple base substitution (>=2bp and <=200bp) GG AA downstream_gene_variant MELA-AU 1 27936800 27936801 multiple base substitution (>=2bp and <=200bp) CC TT downstream_gene_variant MELA-AU 1 27936992 27936992 single base substitution C T downstream_gene_variant MELA-AU 1 27937045 27937045 single base substitution G A downstream_gene_variant MELA-AU 1 27937053 27937053 single base substitution C T downstream_gene_variant MELA-AU 1 27937187 27937187 single base substitution G A downstream_gene_variant MELA-AU 1 27937919 27937919 single base substitution C T downstream_gene_variant MELA-AU 1 27937983 27937983 single base substitution C T downstream_gene_variant MELA-AU 1 27937986 27937986 single base substitution A T downstream_gene_variant MELA-AU 1 27938087 27938087 single base substitution C T downstream_gene_variant MELA-AU 1 27938208 27938208 single base substitution G A downstream_gene_variant MELA-AU 1 27938216 27938216 single base substitution G A downstream_gene_variant MELA-AU 1 27938333 27938333 single base substitution G A downstream_gene_variant MELA-AU 1 27938345 27938345 single base substitution C T downstream_gene_variant MELA-AU 1 27938784 27938784 single base substitution G A 3_prime_UTR_variant MELA-AU 1 27938784 27938784 single base substitution G A downstream_gene_variant MELA-AU 1 27938807 27938807 single base substitution G A 3_prime_UTR_variant MELA-AU 1 27938807 27938807 single base substitution G A downstream_gene_variant MELA-AU 1 27938947 27938947 single base substitution C T 3_prime_UTR_variant MELA-AU 1 27938947 27938947 single base substitution C T downstream_gene_variant MELA-AU 1 27939026 27939026 single base substitution G A 3_prime_UTR_variant MELA-AU 1 27939026 27939026 single base substitution G A downstream_gene_variant MELA-AU 1 27939277 27939277 single base substitution T C 3_prime_UTR_variant MELA-AU 1 27939277 27939277 single base substitution T C downstream_gene_variant MELA-AU 1 27939744 27939744 single base substitution C T downstream_gene_variant MELA-AU 1 27939744 27939744 single base substitution C T missense_variant R390Q 1169G>A MELA-AU 1 27939744 27939744 single base substitution C T missense_variant R456Q 1367G>A MELA-AU 1 27939783 27939783 single base substitution G A downstream_gene_variant MELA-AU 1 27939783 27939783 single base substitution G A missense_variant S377F 1130C>T MELA-AU 1 27939783 27939783 single base substitution G A missense_variant S443F 1328C>T MELA-AU 1 27940084 27940084 single base substitution G A downstream_gene_variant MELA-AU 1 27940084 27940084 single base substitution G A intron_variant MELA-AU 1 27940269 27940269 single base substitution C T downstream_gene_variant MELA-AU 1 27940269 27940269 single base substitution C T intron_variant MELA-AU 1 27940414 27940414 single base substitution C T downstream_gene_variant MELA-AU 1 27940414 27940414 single base substitution C T intron_variant MELA-AU 1 27940693 27940693 single base substitution C T downstream_gene_variant MELA-AU 1 27940693 27940693 single base substitution C T intron_variant MELA-AU 1 27941101 27941101 single base substitution G A downstream_gene_variant MELA-AU 1 27941101 27941101 single base substitution G A splice_region_variant MELA-AU 1 27941219 27941219 single base substitution G C downstream_gene_variant MELA-AU 1 27941219 27941219 single base substitution G C intron_variant MELA-AU 1 27941441 27941441 single base substitution G A downstream_gene_variant MELA-AU 1 27941441 27941441 single base substitution G A splice_region_variant MELA-AU 1 27941706 27941706 single base substitution C T downstream_gene_variant MELA-AU 1 27941706 27941706 single base substitution C T intron_variant MELA-AU 1 27941917 27941917 single base substitution C T downstream_gene_variant MELA-AU 1 27941917 27941917 single base substitution C T intron_variant MELA-AU 1 27941918 27941918 single base substitution C T downstream_gene_variant MELA-AU 1 27941918 27941918 single base substitution C T intron_variant MELA-AU 1 27942093 27942093 single base substitution C T synonymous_variant V224V 672G>A MELA-AU 1 27942093 27942093 single base substitution C T synonymous_variant V290V 870G>A MELA-AU 1 27942554 27942554 single base substitution C T intron_variant MELA-AU 1 27942637 27942637 single base substitution G A intron_variant MELA-AU 1 27942679 27942679 single base substitution C T intron_variant MELA-AU 1 27942726 27942726 single base substitution C T intron_variant MELA-AU 1 27942872 27942872 single base substitution G A intron_variant MELA-AU 1 27943522 27943522 single base substitution G A splice_region_variant MELA-AU 1 27943662 27943662 single base substitution G A intron_variant MELA-AU 1 27943815 27943815 single base substitution G A intron_variant MELA-AU 1 27943815 27943815 single base substitution G A splice_region_variant MELA-AU 1 27943965 27943965 single base substitution G A intron_variant MELA-AU 1 27944022 27944022 single base substitution C T intron_variant MELA-AU 1 27944432 27944432 single base substitution G A intron_variant MELA-AU 1 27944770 27944770 single base substitution C T intron_variant MELA-AU 1 27945298 27945298 single base substitution G A downstream_gene_variant MELA-AU 1 27945298 27945298 single base substitution G A intron_variant MELA-AU 1 27945395 27945395 single base substitution C T downstream_gene_variant MELA-AU 1 27945395 27945395 single base substitution C T intron_variant MELA-AU 1 27945408 27945408 single base substitution C T downstream_gene_variant MELA-AU 1 27945408 27945408 single base substitution C T intron_variant MELA-AU 1 27945461 27945461 single base substitution C T downstream_gene_variant MELA-AU 1 27945461 27945461 single base substitution C T intron_variant MELA-AU 1 27945775 27945775 single base substitution C T downstream_gene_variant MELA-AU 1 27945775 27945775 single base substitution C T intron_variant MELA-AU 1 27945836 27945836 single base substitution G T downstream_gene_variant MELA-AU 1 27945836 27945836 single base substitution G T intron_variant MELA-AU 1 27945927 27945927 single base substitution C T downstream_gene_variant MELA-AU 1 27945927 27945927 single base substitution C T intron_variant MELA-AU 1 27945928 27945928 single base substitution C T downstream_gene_variant MELA-AU 1 27945928 27945928 single base substitution C T intron_variant MELA-AU 1 27946064 27946064 single base substitution C T downstream_gene_variant MELA-AU 1 27946064 27946064 single base substitution C T intron_variant MELA-AU 1 27946084 27946084 single base substitution C T downstream_gene_variant MELA-AU 1 27946084 27946084 single base substitution C T intron_variant MELA-AU 1 27946250 27946250 single base substitution C T downstream_gene_variant MELA-AU 1 27946250 27946250 single base substitution C T intron_variant MELA-AU 1 27946332 27946332 single base substitution C T downstream_gene_variant MELA-AU 1 27946332 27946332 single base substitution C T intron_variant MELA-AU 1 27946381 27946381 single base substitution C T downstream_gene_variant MELA-AU 1 27946381 27946381 single base substitution C T intron_variant MELA-AU 1 27946497 27946497 single base substitution G A downstream_gene_variant MELA-AU 1 27946497 27946497 single base substitution G A intron_variant MELA-AU 1 27946510 27946510 single base substitution C T downstream_gene_variant MELA-AU 1 27946510 27946510 single base substitution C T intron_variant MELA-AU 1 27946545 27946545 single base substitution G A downstream_gene_variant MELA-AU 1 27946545 27946545 single base substitution G A intron_variant MELA-AU 1 27946550 27946550 single base substitution G A downstream_gene_variant MELA-AU 1 27946550 27946550 single base substitution G A intron_variant MELA-AU 1 27946793 27946793 single base substitution C T downstream_gene_variant MELA-AU 1 27946793 27946793 single base substitution C T intron_variant MELA-AU 1 27947243 27947243 single base substitution C T downstream_gene_variant MELA-AU 1 27947243 27947243 single base substitution C T intron_variant MELA-AU 1 27947284 27947284 single base substitution C T downstream_gene_variant MELA-AU 1 27947284 27947284 single base substitution C T intron_variant MELA-AU 1 27947296 27947296 single base substitution G A downstream_gene_variant MELA-AU 1 27947296 27947296 single base substitution G A intron_variant MELA-AU 1 27948132 27948133 multiple base substitution (>=2bp and <=200bp) GG AA downstream_gene_variant MELA-AU 1 27948132 27948133 multiple base substitution (>=2bp and <=200bp) GG AA intron_variant MELA-AU 1 27948132 27948133 multiple base substitution (>=2bp and <=200bp) GG AA missense_variant S122F 365CC>TT MELA-AU 1 27948319 27948319 single base substitution C T downstream_gene_variant MELA-AU 1 27948319 27948319 single base substitution C T intron_variant MELA-AU 1 27948336 27948336 single base substitution C T downstream_gene_variant MELA-AU 1 27948336 27948336 single base substitution C T intron_variant MELA-AU 1 27948399 27948399 single base substitution C T downstream_gene_variant MELA-AU 1 27948399 27948399 single base substitution C T intron_variant MELA-AU 1 27948400 27948400 single base substitution C T downstream_gene_variant MELA-AU 1 27948400 27948400 single base substitution C T intron_variant MELA-AU 1 27948490 27948490 single base substitution C T downstream_gene_variant MELA-AU 1 27948490 27948490 single base substitution C T intron_variant MELA-AU 1 27948641 27948641 single base substitution G A downstream_gene_variant MELA-AU 1 27948641 27948641 single base substitution G A intron_variant MELA-AU 1 27948661 27948661 single base substitution G A downstream_gene_variant MELA-AU 1 27948661 27948661 single base substitution G A intron_variant MELA-AU 1 27949258 27949258 single base substitution C T downstream_gene_variant MELA-AU 1 27949258 27949258 single base substitution C T intron_variant MELA-AU 1 27949493 27949493 single base substitution C T downstream_gene_variant MELA-AU 1 27949493 27949493 single base substitution C T intron_variant MELA-AU 1 27949691 27949691 single base substitution G A downstream_gene_variant MELA-AU 1 27949691 27949691 single base substitution G A intron_variant MELA-AU 1 27949760 27949760 single base substitution C T downstream_gene_variant MELA-AU 1 27949760 27949760 single base substitution C T intron_variant MELA-AU 1 27949800 27949800 single base substitution G A downstream_gene_variant MELA-AU 1 27949800 27949800 single base substitution G A intron_variant MELA-AU 1 27949937 27949937 single base substitution G A exon_variant MELA-AU 1 27949937 27949937 single base substitution G A intron_variant MELA-AU 1 27950429 27950429 single base substitution C T 5_prime_UTR_variant MELA-AU 1 27950429 27950429 single base substitution C T exon_variant MELA-AU 1 27950436 27950436 single base substitution C T 5_prime_UTR_variant MELA-AU 1 27950436 27950436 single base substitution C T exon_variant MELA-AU 1 27950581 27950581 single base substitution G A intron_variant MELA-AU 1 27950581 27950581 single base substitution G A upstream_gene_variant MELA-AU 1 27950653 27950653 single base substitution C T intron_variant MELA-AU 1 27950653 27950653 single base substitution C T upstream_gene_variant MELA-AU 1 27950850 27950850 single base substitution G A intron_variant MELA-AU 1 27950850 27950850 single base substitution G A upstream_gene_variant MELA-AU 1 27950879 27950879 single base substitution G T intron_variant MELA-AU 1 27950879 27950879 single base substitution G T upstream_gene_variant MELA-AU 1 27951284 27951284 single base substitution C T intron_variant MELA-AU 1 27951284 27951284 single base substitution C T upstream_gene_variant MELA-AU 1 27951482 27951482 single base substitution C T intron_variant MELA-AU 1 27951482 27951482 single base substitution C T upstream_gene_variant MELA-AU 1 27951616 27951616 single base substitution C T 5_prime_UTR_variant MELA-AU 1 27951616 27951616 single base substitution C T exon_variant MELA-AU 1 27951616 27951616 single base substitution C T upstream_gene_variant MELA-AU 1 27951749 27951749 single base substitution G A intron_variant MELA-AU 1 27951749 27951749 single base substitution G A upstream_gene_variant MELA-AU 1 27951766 27951766 single base substitution C T intron_variant MELA-AU 1 27951766 27951766 single base substitution C T upstream_gene_variant MELA-AU 1 27952248 27952248 single base substitution G A intron_variant MELA-AU 1 27952248 27952248 single base substitution G A upstream_gene_variant MELA-AU 1 27952594 27952594 single base substitution G A 5_prime_UTR_variant MELA-AU 1 27952594 27952594 single base substitution G A exon_variant MELA-AU 1 27952594 27952594 single base substitution G A intron_variant MELA-AU 1 27952594 27952594 single base substitution G A upstream_gene_variant MELA-AU 1 27952614 27952614 single base substitution C T 5_prime_UTR_variant MELA-AU 1 27952614 27952614 single base substitution C T exon_variant MELA-AU 1 27952614 27952614 single base substitution C T intron_variant MELA-AU 1 27952614 27952614 single base substitution C T upstream_gene_variant MELA-AU 1 27952634 27952634 single base substitution G A 5_prime_UTR_variant MELA-AU 1 27952634 27952634 single base substitution G A exon_variant MELA-AU 1 27952634 27952634 single base substitution G A intron_variant MELA-AU 1 27952634 27952634 single base substitution G A upstream_gene_variant MELA-AU 1 27952850 27952850 single base substitution C T intron_variant MELA-AU 1 27952850 27952850 single base substitution C T upstream_gene_variant MELA-AU 1 27952930 27952930 single base substitution C T intron_variant MELA-AU 1 27952930 27952930 single base substitution C T upstream_gene_variant MELA-AU 1 27953427 27953427 single base substitution C T intron_variant MELA-AU 1 27953427 27953427 single base substitution C T upstream_gene_variant MELA-AU 1 27953494 27953494 single base substitution A T intron_variant MELA-AU 1 27953494 27953494 single base substitution A T upstream_gene_variant MELA-AU 1 27953627 27953627 single base substitution G A intron_variant MELA-AU 1 27953627 27953627 single base substitution G A upstream_gene_variant MELA-AU 1 27953634 27953634 single base substitution G A intron_variant MELA-AU 1 27953634 27953634 single base substitution G A upstream_gene_variant MELA-AU 1 27954097 27954097 single base substitution A C intron_variant MELA-AU 1 27954097 27954097 single base substitution A C upstream_gene_variant MELA-AU 1 27954150 27954150 single base substitution A C intron_variant MELA-AU 1 27954150 27954150 single base substitution A C upstream_gene_variant MELA-AU 1 27954564 27954564 single base substitution G A intron_variant MELA-AU 1 27954564 27954564 single base substitution G A upstream_gene_variant MELA-AU 1 27955061 27955061 single base substitution C T intron_variant MELA-AU 1 27955061 27955061 single base substitution C T upstream_gene_variant MELA-AU 1 27955435 27955435 single base substitution T C intron_variant MELA-AU 1 27955435 27955435 single base substitution T C upstream_gene_variant MELA-AU 1 27955657 27955657 single base substitution G A intron_variant MELA-AU 1 27955657 27955657 single base substitution G A upstream_gene_variant MELA-AU 1 27955806 27955806 single base substitution T C intron_variant MELA-AU 1 27955806 27955806 single base substitution T C upstream_gene_variant MELA-AU 1 27956374 27956374 single base substitution G A intron_variant MELA-AU 1 27956374 27956374 single base substitution G A upstream_gene_variant MELA-AU 1 27956791 27956791 single base substitution C T intron_variant MELA-AU 1 27956791 27956791 single base substitution C T upstream_gene_variant MELA-AU 1 27956834 27956834 single base substitution G A intron_variant MELA-AU 1 27956834 27956834 single base substitution G A upstream_gene_variant MELA-AU 1 27957000 27957000 single base substitution C T intron_variant MELA-AU 1 27957000 27957000 single base substitution C T upstream_gene_variant MELA-AU 1 27957358 27957358 single base substitution C T intron_variant MELA-AU 1 27957358 27957358 single base substitution C T upstream_gene_variant MELA-AU 1 27957738 27957738 single base substitution C T intron_variant MELA-AU 1 27957738 27957738 single base substitution C T upstream_gene_variant MELA-AU 1 27957826 27957826 single base substitution C T intron_variant MELA-AU 1 27957826 27957826 single base substitution C T upstream_gene_variant MELA-AU 1 27958210 27958210 single base substitution C T intron_variant MELA-AU 1 27958337 27958337 single base substitution A G intron_variant MELA-AU 1 27958579 27958579 single base substitution T C intron_variant MELA-AU 1 27959027 27959027 single base substitution A G intron_variant MELA-AU 1 27959141 27959141 single base substitution G A intron_variant MELA-AU 1 27959258 27959258 single base substitution G A intron_variant MELA-AU 1 27959699 27959699 single base substitution G A intron_variant MELA-AU 1 27959867 27959867 single base substitution G A intron_variant MELA-AU 1 27960798 27960798 single base substitution G A intron_variant MELA-AU 1 27961296 27961296 single base substitution C T intron_variant MELA-AU 1 27961355 27961355 single base substitution C T intron_variant MELA-AU 1 27961489 27961489 single base substitution C T intron_variant MELA-AU 1 27961490 27961490 single base substitution C T intron_variant MELA-AU 1 27961525 27961525 single base substitution G A intron_variant MELA-AU 1 27961651 27961651 single base substitution G A 5_prime_UTR_variant MELA-AU 1 27961651 27961651 single base substitution G A upstream_gene_variant MELA-AU 1 27961691 27961691 single base substitution G A 5_prime_UTR_variant MELA-AU 1 27961691 27961691 single base substitution G A upstream_gene_variant MELA-AU 1 27961699 27961699 single base substitution G A 5_prime_UTR_variant MELA-AU 1 27961699 27961699 single base substitution G A upstream_gene_variant MELA-AU 1 27961854 27961854 single base substitution G A upstream_gene_variant MELA-AU 1 27961932 27961932 single base substitution G A upstream_gene_variant MELA-AU 1 27962091 27962092 multiple base substitution (>=2bp and <=200bp) GG AA upstream_gene_variant MELA-AU 1 27962133 27962133 single base substitution G A upstream_gene_variant MELA-AU 1 27962154 27962154 single base substitution G A upstream_gene_variant MELA-AU 1 27962487 27962487 single base substitution C T upstream_gene_variant MELA-AU 1 27962538 27962538 single base substitution G A upstream_gene_variant MELA-AU 1 27962687 27962687 single base substitution G A upstream_gene_variant MELA-AU 1 27962965 27962965 single base substitution G A upstream_gene_variant MELA-AU 1 27963078 27963078 single base substitution C T upstream_gene_variant MELA-AU 1 27963705 27963705 single base substitution C T upstream_gene_variant MELA-AU 1 27964312 27964312 single base substitution C T upstream_gene_variant MELA-AU 1 27964391 27964391 single base substitution C T upstream_gene_variant MELA-AU 1 27964642 27964642 single base substitution G A upstream_gene_variant MELA-AU 1 27964710 27964710 single base substitution C T upstream_gene_variant MELA-AU 1 27964786 27964786 single base substitution G A upstream_gene_variant MELA-AU 1 27965029 27965029 single base substitution G A upstream_gene_variant MELA-AU 1 27965268 27965268 single base substitution T G upstream_gene_variant MELA-AU 1 27965341 27965341 single base substitution C T upstream_gene_variant MELA-AU 1 27965567 27965567 single base substitution C T upstream_gene_variant MELA-AU 1 27966030 27966030 single base substitution C T upstream_gene_variant MELA-AU 1 27966078 27966078 single base substitution G A upstream_gene_variant MELA-AU 1 27966131 27966131 single base substitution C T upstream_gene_variant MELA-AU 1 27966233 27966233 single base substitution C T upstream_gene_variant MELA-AU 1 27966313 27966313 single base substitution C T upstream_gene_variant MELA-AU 1 27966641 27966641 single base substitution C T upstream_gene_variant ORCA-IN 1 27954109 27954109 single base substitution G T intron_variant ORCA-IN 1 27954109 27954109 single base substitution G T upstream_gene_variant OV-AU 1 27934629 27934629 single base substitution G A downstream_gene_variant OV-AU 1 27940929 27940929 single base substitution G C downstream_gene_variant OV-AU 1 27940929 27940929 single base substitution G C intron_variant OV-AU 1 27947559 27947559 single base substitution C G downstream_gene_variant OV-AU 1 27947559 27947559 single base substitution C G intron_variant OV-AU 1 27949108 27949108 single base substitution C T downstream_gene_variant OV-AU 1 27949108 27949108 single base substitution C T intron_variant OV-AU 1 27958009 27958009 single base substitution C A intron_variant OV-AU 1 27958009 27958009 single base substitution C A upstream_gene_variant OV-AU 1 27958405 27958405 single base substitution G T intron_variant OV-AU 1 27966390 27966390 single base substitution C T upstream_gene_variant PACA-AU 1 27938501 27938501 single base substitution C A downstream_gene_variant PACA-AU 1 27941049 27941049 single base substitution G A downstream_gene_variant PACA-AU 1 27941049 27941049 single base substitution G A missense_variant R315C 943C>T PACA-AU 1 27941049 27941049 single base substitution G A missense_variant R381C 1141C>T PACA-AU 1 27943260 27943260 single base substitution G A intron_variant PACA-AU 1 27946068 27946068 single base substitution G C downstream_gene_variant PACA-AU 1 27946068 27946068 single base substitution G C intron_variant PACA-AU 1 27951004 27951004 single base substitution C G intron_variant PACA-AU 1 27951004 27951004 single base substitution C G upstream_gene_variant PACA-AU 1 27957094 27957094 insertion of <=200bp - GA intron_variant PACA-AU 1 27957094 27957094 insertion of <=200bp - GA upstream_gene_variant PACA-AU 1 27958058 27958058 single base substitution G A intron_variant PACA-AU 1 27958058 27958058 single base substitution G A upstream_gene_variant PACA-AU 1 27958654 27958654 single base substitution T C intron_variant PACA-CA 1 27934285 27934285 single base substitution C T downstream_gene_variant PACA-CA 1 27942039 27942039 single base substitution C T synonymous_variant Q242Q 726G>A PACA-CA 1 27942039 27942039 single base substitution C T synonymous_variant Q308Q 924G>A PACA-CA 1 27943090 27943090 single base substitution C T intron_variant PACA-CA 1 27943834 27943834 single base substitution G A intron_variant PACA-CA 1 27948364 27948364 single base substitution A G downstream_gene_variant PACA-CA 1 27948364 27948364 single base substitution A G intron_variant PACA-CA 1 27950240 27950240 single base substitution G A exon_variant PACA-CA 1 27950240 27950240 single base substitution G A missense_variant P63L 188C>T PACA-CA 1 27951046 27951046 single base substitution G T intron_variant PACA-CA 1 27951046 27951046 single base substitution G T upstream_gene_variant PACA-CA 1 27951455 27951455 single base substitution C G intron_variant PACA-CA 1 27951455 27951455 single base substitution C G upstream_gene_variant PACA-CA 1 27951832 27951832 single base substitution G A intron_variant PACA-CA 1 27951832 27951832 single base substitution G A upstream_gene_variant PACA-CA 1 27959410 27959410 single base substitution G A intron_variant PACA-CA 1 27962713 27962713 single base substitution G A upstream_gene_variant PACA-CA 1 27963094 27963094 single base substitution C G upstream_gene_variant PACA-CA 1 27963255 27963255 single base substitution A T upstream_gene_variant PAEN-IT 1 27958537 27958537 single base substitution C A intron_variant PBCA-DE 1 27935414 27935415 deletion of <=200bp GT - downstream_gene_variant PBCA-DE 1 27943703 27943703 single base substitution C G intron_variant PBCA-DE 1 27943703 27943703 single base substitution C G splice_donor_variant PBCA-DE 1 27956562 27956562 insertion of <=200bp - T intron_variant PBCA-DE 1 27956562 27956562 insertion of <=200bp - T upstream_gene_variant PBCA-DE 1 27959803 27959803 deletion of <=200bp T - intron_variant PBCA-DE 1 27960162 27960162 single base substitution C T intron_variant PBCA-DE 1 27963254 27963255 deletion of <=200bp GA - upstream_gene_variant PRAD-CA 1 27937632 27937632 single base substitution G A downstream_gene_variant PRAD-CA 1 27950303 27950303 single base substitution C T exon_variant PRAD-CA 1 27950303 27950303 single base substitution C T missense_variant R42Q 125G>A PRAD-CA 1 27956710 27956710 single base substitution C T intron_variant PRAD-CA 1 27956710 27956710 single base substitution C T upstream_gene_variant PRAD-CA 1 27965692 27965692 single base substitution G T upstream_gene_variant PRAD-UK 1 27936617 27936617 single base substitution T A downstream_gene_variant PRAD-UK 1 27942968 27942984 deletion of <=200bp CCAGCAGCCAGAGTTTC - intron_variant PRAD-UK 1 27945944 27945944 single base substitution C T downstream_gene_variant PRAD-UK 1 27945944 27945944 single base substitution C T intron_variant PRAD-UK 1 27956721 27956721 single base substitution C T intron_variant PRAD-UK 1 27956721 27956721 single base substitution C T upstream_gene_variant RECA-CN 1 27939534 27939534 single base substitution G A downstream_gene_variant RECA-CN 1 27939534 27939534 single base substitution G A missense_variant T428I 1283C>T RECA-CN 1 27939534 27939534 single base substitution G A missense_variant T494I 1481C>T RECA-EU 1 27945878 27945878 single base substitution T G downstream_gene_variant RECA-EU 1 27945878 27945878 single base substitution T G intron_variant RECA-EU 1 27955781 27955781 single base substitution G A intron_variant RECA-EU 1 27955781 27955781 single base substitution G A upstream_gene_variant RECA-EU 1 27957610 27957610 single base substitution C T intron_variant RECA-EU 1 27957610 27957610 single base substitution C T upstream_gene_variant SKCA-BR 1 27934573 27934573 single base substitution A C downstream_gene_variant SKCA-BR 1 27938648 27938648 single base substitution G A 3_prime_UTR_variant SKCA-BR 1 27938648 27938648 single base substitution G A downstream_gene_variant SKCA-BR 1 27939201 27939201 single base substitution G A 3_prime_UTR_variant SKCA-BR 1 27939201 27939201 single base substitution G A downstream_gene_variant SKCA-BR 1 27939562 27939562 single base substitution C T downstream_gene_variant SKCA-BR 1 27939562 27939562 single base substitution C T missense_variant A419T 1255G>A SKCA-BR 1 27939562 27939562 single base substitution C T missense_variant A485T 1453G>A SKCA-BR 1 27940193 27940193 single base substitution G A downstream_gene_variant SKCA-BR 1 27940193 27940193 single base substitution G A intron_variant SKCA-BR 1 27940234 27940238 deletion of <=200bp CAGAG - downstream_gene_variant SKCA-BR 1 27940234 27940238 deletion of <=200bp CAGAG - intron_variant SKCA-BR 1 27942399 27942399 single base substitution A C intron_variant SKCA-BR 1 27943901 27943901 single base substitution C T intron_variant SKCA-BR 1 27947527 27947531 deletion of <=200bp AAAAG - downstream_gene_variant SKCA-BR 1 27947527 27947531 deletion of <=200bp AAAAG - intron_variant SKCA-BR 1 27948285 27948285 single base substitution A C downstream_gene_variant SKCA-BR 1 27948285 27948285 single base substitution A C intron_variant SKCA-BR 1 27949111 27949111 single base substitution G A downstream_gene_variant SKCA-BR 1 27949111 27949111 single base substitution G A intron_variant SKCA-BR 1 27951475 27951475 single base substitution C T intron_variant SKCA-BR 1 27951475 27951475 single base substitution C T upstream_gene_variant SKCA-BR 1 27951677 27951677 single base substitution G A intron_variant SKCA-BR 1 27951677 27951677 single base substitution G A upstream_gene_variant SKCA-BR 1 27952753 27952753 single base substitution G A intron_variant SKCA-BR 1 27952753 27952753 single base substitution G A upstream_gene_variant SKCA-BR 1 27952754 27952754 single base substitution G A intron_variant SKCA-BR 1 27952754 27952754 single base substitution G A upstream_gene_variant SKCA-BR 1 27957279 27957279 single base substitution A G intron_variant SKCA-BR 1 27957279 27957279 single base substitution A G upstream_gene_variant SKCA-BR 1 27957981 27957981 single base substitution G C intron_variant SKCA-BR 1 27957981 27957981 single base substitution G C upstream_gene_variant SKCA-BR 1 27958994 27958994 single base substitution G A intron_variant SKCA-BR 1 27961816 27961816 single base substitution A C upstream_gene_variant SKCA-BR 1 27963553 27963553 single base substitution A C upstream_gene_variant SKCM-US 1 27939461 27939461 single base substitution G A downstream_gene_variant SKCM-US 1 27939461 27939461 single base substitution G A synonymous_variant S452S 1356C>T SKCM-US 1 27939461 27939461 single base substitution G A synonymous_variant S518S 1554C>T SKCM-US 1 27939619 27939619 single base substitution C T downstream_gene_variant SKCM-US 1 27939619 27939619 single base substitution C T missense_variant E400K 1198G>A SKCM-US 1 27939619 27939619 single base substitution C T missense_variant E466K 1396G>A SKCM-US 1 27939754 27939754 single base substitution T G downstream_gene_variant SKCM-US 1 27939754 27939754 single base substitution T G missense_variant T387P 1159A>C SKCM-US 1 27939754 27939754 single base substitution T G missense_variant T453P 1357A>C SKCM-US 1 27939826 27939826 single base substitution C T downstream_gene_variant SKCM-US 1 27939826 27939826 single base substitution C T missense_variant A363T 1087G>A SKCM-US 1 27939826 27939826 single base substitution C T missense_variant A429T 1285G>A SKCM-US 1 27941044 27941044 single base substitution G A downstream_gene_variant SKCM-US 1 27941044 27941044 single base substitution G A synonymous_variant D316D 948C>T SKCM-US 1 27941044 27941044 single base substitution G A synonymous_variant D382D 1146C>T SKCM-US 1 27941432 27941432 single base substitution A G downstream_gene_variant SKCM-US 1 27941432 27941432 single base substitution A G synonymous_variant L276L 826T>C SKCM-US 1 27941432 27941432 single base substitution A G synonymous_variant L342L 1024T>C SKCM-US 1 27942047 27942047 single base substitution C T missense_variant E240K 718G>A SKCM-US 1 27942047 27942047 single base substitution C T missense_variant E306K 916G>A SKCM-US 1 27942078 27942078 single base substitution C T synonymous_variant P229P 687G>A SKCM-US 1 27942078 27942078 single base substitution C T synonymous_variant P295P 885G>A SKCM-US 1 27942117 27942117 single base substitution C T stop_gained W216* 648G>A SKCM-US 1 27942117 27942117 single base substitution C T stop_gained W282* 846G>A SKCM-US 1 27943473 27943473 single base substitution C T missense_variant D127N 379G>A SKCM-US 1 27943473 27943473 single base substitution C T missense_variant D193N 577G>A SKCM-US 1 27943722 27943722 single base substitution C T intron_variant SKCM-US 1 27943722 27943722 single base substitution C T missense_variant E172K 514G>A SKCM-US 1 27943740 27943740 single base substitution C T intron_variant SKCM-US 1 27943740 27943740 single base substitution C T missense_variant G166R 496G>A SKCM-US 1 27943786 27943786 single base substitution C T intron_variant SKCM-US 1 27943786 27943786 single base substitution C T synonymous_variant G150G 450G>A SKCM-US 1 27943796 27943796 single base substitution C T intron_variant SKCM-US 1 27943796 27943796 single base substitution C T missense_variant G147E 440G>A SKCM-US 1 27948152 27948152 single base substitution C T downstream_gene_variant SKCM-US 1 27948152 27948152 single base substitution C T intron_variant SKCM-US 1 27948152 27948152 single base substitution C T missense_variant E116K 346G>A SKCM-US 1 27949610 27949610 single base substitution C T downstream_gene_variant SKCM-US 1 27949610 27949610 single base substitution C T missense_variant R91Q 272G>A SKCM-US 1 27949630 27949630 single base substitution G A downstream_gene_variant SKCM-US 1 27949630 27949630 single base substitution G A synonymous_variant A84A 252C>T SKCM-US 1 27949640 27949640 single base substitution A C downstream_gene_variant SKCM-US 1 27949640 27949640 single base substitution A C missense_variant L81R 242T>G SKCM-US 1 27949645 27949645 single base substitution C T downstream_gene_variant SKCM-US 1 27949645 27949645 single base substitution C T synonymous_variant V79V 237G>A SKCM-US 1 27949654 27949654 single base substitution C T downstream_gene_variant SKCM-US 1 27949654 27949654 single base substitution C T splice_region_variant STAD-US 1 27939440 27939440 single base substitution G A downstream_gene_variant STAD-US 1 27939440 27939440 single base substitution G A synonymous_variant P459P 1377C>T STAD-US 1 27939440 27939440 single base substitution G A synonymous_variant P525P 1575C>T STAD-US 1 27939476 27939476 single base substitution C A downstream_gene_variant STAD-US 1 27939476 27939476 single base substitution C A missense_variant E447D 1341G>T STAD-US 1 27939476 27939476 single base substitution C A missense_variant E513D 1539G>T STAD-US 1 27939528 27939528 single base substitution C T downstream_gene_variant STAD-US 1 27939528 27939528 single base substitution C T missense_variant R430H 1289G>A STAD-US 1 27939528 27939528 single base substitution C T missense_variant R496H 1487G>A STAD-US 1 27943397 27943397 single base substitution G A missense_variant S152L 455C>T STAD-US 1 27943397 27943397 single base substitution G A missense_variant S218L 653C>T STAD-US 1 27943449 27943449 single base substitution G A missense_variant R135C 403C>T STAD-US 1 27943449 27943449 single base substitution G A missense_variant R201C 601C>T STAD-US 1 27949552 27949552 single base substitution C T downstream_gene_variant STAD-US 1 27949552 27949552 single base substitution C T splice_donor_variant STAD-US 1 27949577 27949577 single base substitution T A downstream_gene_variant STAD-US 1 27949577 27949577 single base substitution T A missense_variant E102V 305A>T THCA-US 1 27949582 27949582 single base substitution C T downstream_gene_variant THCA-US 1 27949582 27949582 single base substitution C T synonymous_variant K100K 300G>A UCEC-US 1 27939518 27939518 single base substitution C T downstream_gene_variant UCEC-US 1 27939518 27939518 single base substitution C T synonymous_variant P433P 1299G>A UCEC-US 1 27939518 27939518 single base substitution C T synonymous_variant P499P 1497G>A UCEC-US 1 27941060 27941060 single base substitution T C downstream_gene_variant UCEC-US 1 27941060 27941060 single base substitution T C missense_variant N311S 932A>G UCEC-US 1 27941060 27941060 single base substitution T C missense_variant N377S 1130A>G UCEC-US 1 27942301 27942301 single base substitution G A missense_variant P180L 539C>T UCEC-US 1 27942301 27942301 single base substitution G A missense_variant P246L 737C>T UCEC-US 1 27943431 27943431 single base substitution C T missense_variant G141S 421G>A UCEC-US 1 27943431 27943431 single base substitution C T missense_variant G207S 619G>A UCEC-US 1 27948081 27948081 single base substitution G A downstream_gene_variant UCEC-US 1 27948081 27948081 single base substitution G A intron_variant UCEC-US 1 27948081 27948081 single base substitution G A synonymous_variant I139I 417C>T UCEC-US 1 27949614 27949614 single base substitution C T downstream_gene_variant UCEC-US 1 27949614 27949614 single base substitution C T missense_variant A90T 268G>A

Mutation - COSMIC Sample Name Mutation ID Mutation CDS Mutation AA Mutation Description Mutation Genome Position Mutation Strand 587228 COSM1207112 c.890C>T p.T297I Substitution - Missense 1:27615562-27615562 - TCGA-DJ-A13U-01 COSM3369674 c.300G>A p.K100K Substitution - coding silent 1:27623071-27623071 - TCGA-Q1-A73O-01 COSM4834394 c.982G>A p.E328K Substitution - Missense 1:27615470-27615470 - PCSI_0090_Pa_X COSM3377111 c.924G>A p.Q308Q Substitution - coding silent 1:27615528-27615528 - TCGA-AA-3672-01 COSM266538 c.33G>A p.P11P Substitution - coding silent 1:27623884-27623884 - HCC162 COSM3705755 c.228G>T p.G76G Substitution - coding silent 1:27623143-27623143 - PD11380a COSM3487716 c.916G>A p.E306K Substitution - Missense 1:27615536-27615536 - CN-AML-08-T COSM1296253 c.85G>A p.G29R Substitution - Missense 1:27623832-27623832 - TCGA-FW-A3R5-06 COSM3865235 c.237G>A p.V79V Substitution - coding silent 1:27623134-27623134 - TCGA-AA-3855-01 COSM295801 c.970G>A p.V324M Substitution - Missense 1:27615482-27615482 - YUCOT COSM1685823 c.1357A>C p.T453P Substitution - Missense 1:27613243-27613243 - TCGA-G3-A25T-01 COSM4941728 c.694G>A p.G232R Substitution - Missense 1:27615833-27615833 - SC_9081 COSM5572974 c.839-7C>T p.? Unknown 1:27615620-27615620 - TCGA-DK-A1AC-01 COSM1296251 c.1515C>G p.F505L Substitution - Missense 1:27612989-27612989 - TCGA-AO-A128-01 COSM3804859 c.781A>G p.S261G Substitution - Missense 1:27615746-27615746 - TCGA-EW-A1OV-01 COSM1473838 c.1348G>A p.E450K Substitution - Missense 1:27613252-27613252 - TCGA-C8-A12T-01 COSM3804858 c.1412T>G p.V471G Substitution - Missense 1:27613092-27613092 - TCGA-HT-7606-01 COSM3966503 c.648C>T p.F216F Substitution - coding silent 1:27616891-27616891 - TCGA-BP-4775-01 COSM3360812 c.1098A>G p.V366V Substitution - coding silent 1:27614581-27614581 - TCGA-B5-A11E-01 COSM907908 c.268G>A p.A90T Substitution - Missense 1:27623103-27623103 - ME001T COSM221617 c.667G>A p.V223M Substitution - Missense 1:27616872-27616872 - MO_1215 COSM5548584 c.401C>A p.A134D Substitution - Missense 1:27621586-27621586 - sysucc-880T COSM5462273 c.41C>T p.T14M Substitution - Missense 1:27623876-27623876 - TCGA-FW-A3R5-06 COSM3865232 c.1146C>T p.D382D Substitution - coding silent 1:27614533-27614533 - TCGA-DD-A4NQ-01 COSM4941011 c.1080G>T p.V360V Substitution - coding silent 1:27614865-27614865 - S02274 COSM5682340 c.1095+2_1095+7delTAACTG p.? Unknown 1:27614843-27614848 - TCGA-B5-A11N-01 COSM907907 c.417C>T p.I139I Substitution - coding silent 1:27621570-27621570 - Pat_27_B COSM5846267 c.1457C>A p.S486Y Substitution - Missense 1:27613047-27613047 - TCGA-BR-8487-01 COSM4031144 c.653C>T p.S218L Substitution - Missense 1:27616886-27616886 - I2L-P19Ta-Tumor-Biopsy COSM237397 c.1017C>T p.H339H Substitution - coding silent 1:27615435-27615435 - TCGA-B1-A656-01 COSM4414052 c.605A>T p.K202I Substitution - Missense 1:27616934-27616934 - T2940 COSM4684645 c.805C>A p.L269M Substitution - Missense 1:27615722-27615722 - TCGA-DA-A1HV-06 COSM3487722 c.242T>G p.L81R Substitution - Missense 1:27623129-27623129 - B60-Tumor COSM3930736 c.1062G>C p.L354F Substitution - Missense 1:27614883-27614883 - TCGA-D3-A2J9-06 COSM3487717 c.885G>A p.P295P Substitution - coding silent 1:27615567-27615567 - TCGA-FS-A1ZH-06 COSM3487715 c.1554C>T p.S518S Substitution - coding silent 1:27612950-27612950 - TCGA-K7-A5RF-01 COSM4909417 c.275C>A p.T92N Substitution - Missense 1:27623096-27623096 - YUKAT COSM5380557 c.1210G>A p.A404T Substitution - Missense 1:27614469-27614469 - YUNEKI COSM5380559 c.21G>A p.K7K Substitution - coding silent 1:27623896-27623896 - LIM2551 COSM4643759 c.51G>A p.E17E Substitution - coding silent 1:27623866-27623866 - YURAY COSM5380556 c.1441C>T p.P481S Substitution - Missense 1:27613063-27613063 - CSCC-31-T COSM4462833 c.1262C>T p.P421L Substitution - Missense 1:27613338-27613338 - CP66-MEL COSM21056 c.1425C>T p.Y475Y Substitution - coding silent 1:27613079-27613079 - YUBER COSM1687285 c.1579G>A p.D527N Substitution - Missense 1:27612925-27612925 - YUPAT COSM1687286 c.1469C>T p.A490V Substitution - Missense 1:27613035-27613035 - TCGA-EE-A2MR-06 COSM3487718 c.577G>A p.D193N Substitution - Missense 1:27616962-27616962 - TCGA-HU-8602-01 COSM2236341 c.1575C>T p.P525P Substitution - coding silent 1:27612929-27612929 - T2269 COSM2236368 c.576C>T p.G192G Substitution - coding silent 1:27616963-27616963 - 12586 COSM5616733 c.1545C>T p.Y515Y Substitution - coding silent 1:27612959-27612959 - TCGA-BR-8680-01 COSM4031143 c.1539G>T p.E513D Substitution - Missense 1:27612965-27612965 - CHC1746T COSM4787976 c.1323G>T p.V441V Substitution - coding silent 1:27613277-27613277 - SC_9038 COSM5554740 c.484G>T p.G162C Substitution - Missense 1:27617241-27617241 - TCGA-CG-5733-01 COSM2236367 c.601C>T p.R201C Substitution - Missense 1:27616938-27616938 - I2L-P19Ta-Tumor-Organoid COSM237397 c.1017C>T p.H339H Substitution - coding silent 1:27615435-27615435 - TCGA-CG-4306-01 COSM4031145 c.329+1G>A p.? Unknown 1:27623041-27623041 - TCGA-EE-A3AG-06 COSM3487721 c.252C>T p.A84A Substitution - coding silent 1:27623119-27623119 - TCGA-EJ-5527-01 COSM3671710 c.898C>A p.P300T Substitution - Missense 1:27615554-27615554 - TCGA-DK-A1AC-01 COSM1296253 c.85G>A p.G29R Substitution - Missense 1:27623832-27623832 - HT115 COSM2236369 c.333A>C p.E111D Substitution - Missense 1:27621654-27621654 - tumor_4194891 COSM3356566 c.894G>C p.M298I Substitution - Missense 1:27615558-27615558 - TCGA-AX-A06H-01 COSM907905 c.737C>T p.P246L Substitution - Missense 1:27615790-27615790 - PD8978a COSM5792312 c.105G>T p.G35G Substitution - coding silent 1:27623812-27623812 - T3225 COSM4684646 c.263A>G p.Y88C Substitution - Missense 1:27623108-27623108 - RK065_C01 COSM1627001 c.1152G>A p.R384R Substitution - coding silent 1:27614527-27614527 - sysucc-1397T COSM5473431 c.838+4C>T p.? Unknown 1:27615685-27615685 - 4537_T COSM2236356 c.945C>T p.H315H Substitution - coding silent 1:27615507-27615507 - TCGA-HU-A4GX-01 COSM1341531 c.1487G>A p.R496H Substitution - Missense 1:27613017-27613017 - TCGA-DK-A2I4-01 COSM3789842 c.49G>T p.E17* Substitution - Nonsense 1:27623868-27623868 - TCGA-FW-A3R5-06 COSM3865234 c.272G>A p.R91Q Substitution - Missense 1:27623099-27623099 - TCGA-CC-A7II-01 COSM4937559 c.1351C>A p.L451I Substitution - Missense 1:27613249-27613249 - TCGA-GV-A3QK-01 COSM3789840 c.572G>C p.R191T Substitution - Missense 1:27616967-27616967 - Pat_41_B COSM5846268 c.400G>A p.A134T Substitution - Missense 1:27621587-27621587 - HCC162T COSM3705755 c.228G>T p.G76G Substitution - coding silent 1:27623143-27623143 - TCGA-D1-A167-01 COSM907903 c.1497G>A p.P499P Substitution - coding silent 1:27613007-27613007 - TCGA-D1-A177-01 COSM907906 c.619G>A p.G207S Substitution - Missense 1:27616920-27616920 - CSCC-29-T COSM4550370 c.49G>A p.E17K Substitution - Missense 1:27623868-27623868 - TCGA-BF-A1PX-01 COSM4905243 c.450G>A p.G150G Substitution - coding silent 1:27617275-27617275 - 181T COSM1726273 c.76A>G p.R26G Substitution - Missense 1:27623841-27623841 - YURAY COSM5380558 c.398T>G p.V133G Substitution - Missense 1:27621589-27621589 - TCGA-D3-A51T-06 COSM534761 c.228G>A p.G76G Substitution - coding silent 1:27623143-27623143 - TCGA-GC-A3RC-01 COSM3789841 c.346G>A p.E116K Substitution - Missense 1:27621641-27621641 - 2474088 COSM5880146 c.1144G>A p.D382N Substitution - Missense 1:27614535-27614535 - BD57T COSM5509679 c.1194C>A p.I398I Substitution - coding silent 1:27614485-27614485 - CHEWS014 COSM4577187 c.711C>T p.L237L Substitution - coding silent 1:27615816-27615816 - K44-Tumor COSM249172 c.1481C>T p.T494I Substitution - Missense 1:27613023-27613023 - 587226 COSM1207111 c.800G>A p.R267H Substitution - Missense 1:27615727-27615727 - T3090 COSM4684644 c.1273A>G p.T425A Substitution - Missense 1:27613327-27613327 - K44 COSM249172 c.1481C>T p.T494I Substitution - Missense 1:27613023-27613023 - YUDON COSM5380554 c.1539G>A p.E513E Substitution - coding silent 1:27612965-27612965 - 2984_T COSM3977556 c.1383C>T p.G461G Substitution - coding silent 1:27613121-27613121 - YULAN COSM1687287 c.107C>T p.P36L Substitution - Missense 1:27623810-27623810 - TCGA-ER-A193-06 COSM1502550 c.846G>A p.W282* Substitution - Nonsense 1:27615606-27615606 - CP66-MEL COSM21056 c.1425C>T p.Y475Y Substitution - coding silent 1:27613079-27613079 - CSCC-31-T COSM907907 c.417C>T p.I139I Substitution - coding silent 1:27621570-27621570 - TCGA-GF-A6C9-06 COSM230849 c.1396G>A p.E466K Substitution - Missense 1:27613108-27613108 - CSCC-38-T COSM4559934 c.824G>A p.G275E Substitution - Missense 1:27615703-27615703 - B66-Tumor COSM1748325 c.358C>G p.L120V Substitution - Missense 1:27621629-27621629 - RK137_C01 COSM1627000 c.1561C>A p.P521T Substitution - Missense 1:27612943-27612943 - ESCC-246T COSM3934661 c.791C>T p.T264M Substitution - Missense 1:27615736-27615736 - TCGA-AP-A0LM-01 COSM907904 c.1130A>G p.N377S Substitution - Missense 1:27614549-27614549 - ESCC-178T COSM3934660 c.867G>A p.A289A Substitution - coding silent 1:27615585-27615585 - TCGA-ER-A42K-06 COSM4894891 c.1024T>C p.L342L Substitution - coding silent 1:27614921-27614921 - 585208 COSM325350 c.979G>C p.E327Q Substitution - Missense 1:27615473-27615473 - TCGA-UB-A7MD-01 COSM4933112 c.809G>C p.G270A Substitution - Missense 1:27615718-27615718 - 2474087 COSM5880146 c.1144G>A p.D382N Substitution - Missense 1:27614535-27614535 - Pat_24_B COSM5846266 c.1516G>C p.E506Q Substitution - Missense 1:27612988-27612988 - Au9 COSM5607397 c.439G>A p.G147R Substitution - Missense 1:27617286-27617286 - TCGA-FW-A3R5-06 COSM3865233 c.514G>A p.E172K Substitution - Missense 1:27617211-27617211 - 12T COSM108739 c.891C>T p.T297T Substitution - coding silent 1:27615561-27615561 - TCGA-DK-A1AC-01 COSM1296254 c.77G>T p.R26I Substitution - Missense 1:27623840-27623840 - CCRF-CEM COSM1667313 c.1448G>A p.C483Y Substitution - Missense 1:27613056-27613056 - TCGA-DA-A1I4-06 COSM3487716 c.916G>A p.E306K Substitution - Missense 1:27615536-27615536 - TCGA-GV-A3QI-01 COSM1296252 c.314A>G p.H105R Substitution - Missense 1:27623057-27623057 - TCGA-FW-A3R5-06 COSM3865231 c.1285G>A p.A429T Substitution - Missense 1:27613315-27613315 - B66 COSM1748325 c.358C>G p.L120V Substitution - Missense 1:27621629-27621629 - P158 COSM5008525 c.920C>T p.A307V Substitution - Missense 1:27615532-27615532 - 8069192 COSM4408278 c.1141C>T p.R381C Substitution - Missense 1:27614538-27614538 - TCGA-DA-A1I5-06 COSM1685823 c.1357A>C p.T453P Substitution - Missense 1:27613243-27613243 - YUTUCO COSM3487716 c.916G>A p.E306K Substitution - Missense 1:27615536-27615536 - WA16 COSM237397 c.1017C>T p.H339H Substitution - coding silent 1:27615435-27615435 - TCGA-EE-A2GL-06 COSM3487719 c.496G>A p.G166R Substitution - Missense 1:27617229-27617229 - sysucc-783T COSM5483811 c.1381+10G>A p.? Unknown 1:27613209-27613209 - CN-AML-NR-08-Dx COSM1296253 c.85G>A p.G29R Substitution - Missense 1:27623832-27623832 - TCGA-AU-6004-01 COSM1341532 c.31C>T p.P11S Substitution - Missense 1:27623886-27623886 - CHC1746T COSM4787976 c.1323G>T p.V441V Substitution - coding silent 1:27613277-27613277 - 631076 COSM320421 c.967G>A p.A323T Substitution - Missense 1:27615485-27615485 - CPCG0206-F1 COSM4880986 c.125G>A p.R42Q Substitution - Missense 1:27623792-27623792 - 1N40-VS-1T40 COSM4975260 c.520G>A p.E174K Substitution - Missense 1:27617205-27617205 - PD4937a COSM161064 c.511C>T p.R171W Substitution - Missense 1:27617214-27617214 - CSCC-7-T COSM4525914 c.1362G>A p.K454K Substitution - coding silent 1:27613238-27613238 - LS411 COSM2236344 c.1512C>A p.T504T Substitution - coding silent 1:27612992-27612992 - TCGA-30-1718-01 COSM1320225 c.941G>A p.R314Q Substitution - Missense 1:27615511-27615511 - TCGA-UC-A7PF-01 COSM4830305 c.265G>A p.E89K Substitution - Missense 1:27623106-27623106 - TCGA-EE-A2MR-06 COSM3487720 c.440G>A p.G147E Substitution - Missense 1:27617285-27617285 - sysucc-783T COSM5483812 c.850G>A p.G284S Substitution - Missense 1:27615602-27615602 - TCGA-CM-6171-01 COSM1341531 c.1487G>A p.R496H Substitution - Missense 1:27613017-27613017 - YURAY COSM5380555 c.1479G>A p.Q493Q Substitution - coding silent 1:27613025-27613025 - TCGA-FW-A3R5-06 COSM3789841 c.346G>A p.E116K Substitution - Missense 1:27621641-27621641 - TCGA-BR-8589-01 COSM4031146 c.305A>T p.E102V Substitution - Missense 1:27623066-27623066 - ME100L COSM230849 c.1396G>A p.E466K Substitution - Missense 1:27613108-27613108 -

Mutation - CGAP UNIGENE CYTOBAND OMIM SNP Hs.1422 1p36.2-p36.1 164940

Mutation - IntOGen Mutated from(ref) Mutated to(alt) Consequence Type AA Mutation CDS Mutation Chr Pos Cancer A C Missense p.L81R c.242T>G 1 27949640 CM C A Missense p.G178C c.532G>T 1 27943704 LUAD C A Nonsense p.E17* c.49G>T 1 27950379 BLCA C G Missense p.E327Q c.979G>C 1 27941984 SCLC C G Missense p.M298I c.894G>C 1 27942069 DLBCL C T Missense p.A323T c.967G>A 1 27941996 SCLC C T Missense p.E306K c.916G>A 1 27942047 CM C T Missense p.E450K c.1348G>A 1 27939763 BRCA C T Missense p.E466K c.1396G>A 1 27939619 CM C T Missense p.G166R c.496G>A 1 27943740 CM C T Missense p.G207S c.619G>A 1 27943431 UCEC C T Missense p.V223M c.667G>A 1 27943383 CM C T Missense p.V324M c.970G>A 1 27941993 COREAD C T Nonsense p.W282* c.846G>A 1 27942117 CM C T SpliceDonorSNV . c.329+1G>A 1 27949552 STAD C T Synonymous p.G150G c.450G>A 1 27943786 CM C T Synonymous p.G76G c.228G>A 1 27949654 LUAD C T Synonymous p.K100K c.300G>A 1 27949582 THCA C T Synonymous p.P295P c.885G>A 1 27942078 CM C T Synonymous p.Q493Q c.1479G>A 1 27939536 CM C T Synonymous p.V290V c.870G>A 1 27942093 HNSC G A Missense p.P246L c.737C>T 1 27942301 UCEC G A Missense p.R171W c.511C>T 1 27943725 BRCA G A Missense p.R201C c.601C>T 1 27943449 STAD G A Synonymous p.A84A c.252C>T 1 27949630 CM G A Synonymous p.F216F c.648C>T 1 27943402 LGG G A Synonymous p.L508L c.1522C>T 1 27939493 LUAD G A Synonymous p.S518S c.1554C>T 1 27939461 CM G A Synonymous p.Y515Y c.1545C>T 1 27939470 NSCLC G T Missense p.P300T c.898C>A 1 27942065 PRAD G T Missense p.P521T c.1561C>A 1 27939454 HC G T Synonymous p.T453T c.1359C>A 1 27939752 MM T A Missense p.T97S c.289A>T 1 27949593 HNSC T C Missense p.H105R c.314A>G 1 27949568 BLCA T C Missense p.N413S c.1238A>G 1 27940952 CM T C Missense p.Q157R c.470A>G 1 27943766 CM T C Synonymous p.V366V c.1098A>G 1 27941092 RCCC T G Missense p.T453P c.1357A>C 1 27939754 CM