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 14 71197331 71197331 + Missense_Mutation SNP C C G TCGA-4Z-AA89-01A-11D-A391-08 TCGA-4Z-AA89-10A-01D-A394-08 g.chr14:71197331C>G c.3081G>C c.(3079-3081)gaG>gaC p.E1027D BLCA 14 71199523 71199523 + Missense_Mutation SNP C C T TCGA-CF-A5U8-01A-11D-A289-08 TCGA-CF-A5U8-10A-01D-A289-08 g.chr14:71199523C>T c.2563G>A c.(2563-2565)Gat>Aat p.D855N BLCA 14 71199718 71199718 + Nonsense_Mutation SNP C C A TCGA-FD-A43P-01A-31D-A23U-08 TCGA-FD-A43P-10A-01D-A23U-08 g.chr14:71199718C>A c.2368G>T c.(2368-2370)Gag>Tag p.E790* BLCA 14 71199823 71199823 + Missense_Mutation SNP C C T TCGA-DK-AA6Q-01A-11D-A391-08 TCGA-DK-AA6Q-10A-01D-A394-08 g.chr14:71199823C>T c.2263G>A c.(2263-2265)Ggc>Agc p.G755S BLCA 14 71199958 71199958 + Missense_Mutation SNP C C T TCGA-GD-A3OQ-01A-32D-A21Z-08 TCGA-GD-A3OQ-10A-01D-A21Z-08 g.chr14:71199958C>T c.2128G>A c.(2128-2130)Gat>Aat p.D710N BLCA 14 71205053 71205053 + Missense_Mutation SNP C C T TCGA-XF-AAMG-01A-11D-A42E-08 TCGA-XF-AAMG-10A-01D-A42H-08 g.chr14:71205053C>T c.1753G>A c.(1753-1755)Gag>Aag p.E585K BLCA 14 71209105 71209105 + Silent SNP C C T TCGA-ZF-A9R7-01A-11D-A38G-08 TCGA-ZF-A9R7-10A-01D-A38J-08 g.chr14:71209105C>T c.1530G>A c.(1528-1530)ctG>ctA p.L510L BLCA 14 71209224 71209224 + Missense_Mutation SNP C C G TCGA-ZF-AA56-01A-31D-A391-08 TCGA-ZF-AA56-10A-01D-A394-08 g.chr14:71209224C>G c.1411G>C c.(1411-1413)Gag>Cag p.E471Q BLCA 14 71209258 71209258 + Missense_Mutation SNP C C A TCGA-ZF-A9R7-01A-11D-A38G-08 TCGA-ZF-A9R7-10A-01D-A38J-08 g.chr14:71209258C>A c.1377G>T c.(1375-1377)aaG>aaT p.K459N BLCA 14 71215569 71215569 + Missense_Mutation SNP C C G TCGA-LT-A5Z6-01A-11D-A289-08 TCGA-LT-A5Z6-10A-01D-A289-08 g.chr14:71215569C>G c.1303G>C c.(1303-1305)Gac>Cac p.D435H BLCA 14 71216728 71216728 + Missense_Mutation SNP C C T TCGA-FD-A6TI-01A-11D-A32B-08 TCGA-FD-A6TI-10A-01D-A329-08 g.chr14:71216728C>T c.1072G>A c.(1072-1074)Gct>Act p.A358T BLCA 14 71216771 71216771 + Silent SNP C C T TCGA-G2-A2EL-01A-12D-A18F-08 TCGA-G2-A2EL-10A-01D-A18F-08 g.chr14:71216771C>T c.1029G>A c.(1027-1029)ctG>ctA p.L343L BLCA 14 71267452 71267452 + Missense_Mutation SNP C C G TCGA-XF-A9ST-01A-11D-A42E-08 TCGA-XF-A9ST-10A-01D-A42H-08 g.chr14:71267452C>G c.752G>C c.(751-753)aGa>aCa p.R251T BLCA 14 71267619 71267619 + Silent SNP G G A TCGA-E5-A4U1-01A-11D-A31L-08 TCGA-E5-A4U1-10B-01D-A31J-08 g.chr14:71267619G>A c.585C>T c.(583-585)ttC>ttT p.F195F BRCA 14 71197420 71197420 + Frame_Shift_Del DEL A A - TCGA-A2-A0T1-01A-21D-A099-09 TCGA-A2-A0T1-10A-01D-A099-09 g.chr14:71197420delA c.2992delT c.(2992-2994)tctfs p.S998fs BRCA 14 71197537 71197537 + Missense_Mutation SNP G G C TCGA-A8-A09M-01A-11W-A019-09 TCGA-A8-A09M-10A-01W-A021-09 g.chr14:71197537G>C c.2875C>G c.(2875-2877)Ccc>Gcc p.P959A BRCA 14 71199275 71199275 + Missense_Mutation SNP C C G TCGA-C8-A275-01A-21D-A16D-09 TCGA-C8-A275-10A-01D-A16D-09 g.chr14:71199275C>G c.2811G>C c.(2809-2811)ttG>ttC p.L937F BRCA 14 71206789 71206789 + Missense_Mutation SNP T T G TCGA-A2-A0T5-01A-21D-A099-09 TCGA-A2-A0T5-10A-01D-A099-09 g.chr14:71206789T>G c.1660A>C c.(1660-1662)Acc>Ccc p.T554P BRCA 14 71267708 71267708 + Missense_Mutation SNP C C T TCGA-BH-A18P-01A-11D-A12B-09 TCGA-BH-A18P-11A-43D-A12B-09 g.chr14:71267708C>T c.496G>A c.(496-498)Gat>Aat p.D166N CESC 14 71197275 71197275 + Missense_Mutation SNP C C T TCGA-MU-A51Y-01A-11D-A26G-09 TCGA-MU-A51Y-10A-01D-A26G-09 g.chr14:71197275C>T c.3137G>A c.(3136-3138)cGg>cAg p.R1046Q CESC 14 71197432 71197432 + Missense_Mutation SNP G G A TCGA-EA-A5ZD-01A-11D-A28B-09 TCGA-EA-A5ZD-10A-01D-A28E-09 g.chr14:71197432G>A c.2980C>T c.(2980-2982)Cgg>Tgg p.R994W CESC 14 71199564 71199564 + Missense_Mutation SNP G G C TCGA-EK-A2H0-01A-11D-A17W-09 TCGA-EK-A2H0-10A-01D-A17W-09 g.chr14:71199564G>C c.2522C>G c.(2521-2523)tCc>tGc p.S841C CESC 14 71215635 71215635 + Missense_Mutation SNP C C G TCGA-DG-A2KL-01A-11D-A17W-09 TCGA-DG-A2KL-10A-01D-A17W-09 g.chr14:71215635C>G c.1237G>C c.(1237-1239)Gaa>Caa p.E413Q CESC 14 71267429 71267429 + Missense_Mutation SNP C C T TCGA-DS-A0VK-01A-21D-A10S-08 TCGA-DS-A0VK-10A-01D-A10S-08 g.chr14:71267429C>T c.775G>A c.(775-777)Gag>Aag p.E259K CESC 14 71267556 71267556 + Silent SNP G G C TCGA-LP-A5U2-01A-11D-A28B-09 TCGA-LP-A5U2-10A-01D-A28E-09 g.chr14:71267556G>C c.648C>G c.(646-648)ctC>ctG p.L216L COAD 14 71197366 71197366 + Missense_Mutation SNP G G A TCGA-G4-6309-01A-21D-1835-10 TCGA-G4-6309-10A-01D-1835-10 g.chr14:71197366G>A c.3046C>T c.(3046-3048)Cgc>Tgc p.R1016C COAD 14 71199705 71199705 + Missense_Mutation SNP C C T TCGA-AA-A00J-01A-02W-A005-10 TCGA-AA-A00J-10A-01W-A005-10 g.chr14:71199705C>T c.2381G>A c.(2380-2382)cGg>cAg p.R794Q COAD 14 71199902 71199902 + Silent SNP C C T TCGA-AZ-4315-01A-01D-1408-10 TCGA-AZ-4315-10A-01D-1408-10 g.chr14:71199902C>T c.2184G>A c.(2182-2184)acG>acA p.T728T COAD 14 71199902 71199902 + Silent SNP C C T TCGA-G4-6309-01A-21D-1835-10 TCGA-G4-6309-10A-01D-1835-10 g.chr14:71199902C>T c.2184G>A c.(2182-2184)acG>acA p.T728T COAD 14 71200483 71200483 + Intron SNP C C T TCGA-CM-5861-01A-01D-1650-10 TCGA-CM-5861-10A-01D-1650-10 g.chr14:71200483C>T COAD 14 71209191 71209191 + Missense_Mutation SNP G G A TCGA-A6-6780-01A-11D-1835-10 TCGA-A6-6780-10A-01D-1835-10 g.chr14:71209191G>A c.1444C>T c.(1444-1446)Cgg>Tgg p.R482W COAD 14 71209216 71209216 + Silent SNP G G A TCGA-AA-3811-01A-01W-0995-10 TCGA-AA-3811-10A-01W-0995-10 g.chr14:71209216G>A c.1419C>T c.(1417-1419)gcC>gcT p.A473A COAD 14 71209234 71209234 + Silent SNP A A G TCGA-D5-6529-01A-11D-1771-10 TCGA-D5-6529-10A-01D-1771-10 g.chr14:71209234A>G c.1401T>C c.(1399-1401)cgT>cgC p.R467R COAD 14 71209236 71209236 + Missense_Mutation SNP G G A TCGA-AZ-6598-01A-11D-1771-10 TCGA-AZ-6598-11A-01D-1771-10 g.chr14:71209236G>A c.1399C>T c.(1399-1401)Cgt>Tgt p.R467C COAD 14 71227755 71227755 + Missense_Mutation SNP C C T TCGA-AA-3492-01A-01D-1408-10 TCGA-AA-3492-11A-01D-1408-10 g.chr14:71227755C>T c.965G>A c.(964-966)cGg>cAg p.R322Q COAD 14 71227816 71227816 + Missense_Mutation SNP G G A TCGA-AA-3525-01A-02W-0833-10 TCGA-AA-3525-10A-01W-0833-10 g.chr14:71227816G>A c.904C>T c.(904-906)Cac>Tac p.H302Y COAD 14 71267468 71267468 + Missense_Mutation SNP C C T TCGA-G4-6293-01A-11D-1719-10 TCGA-G4-6293-10A-01D-1719-10 g.chr14:71267468C>T c.736G>A c.(736-738)Gct>Act p.A246T COAD 14 71275641 71275641 + Missense_Mutation SNP G G A TCGA-F4-6459-01A-11D-1771-10 TCGA-F4-6459-10A-01D-1771-10 g.chr14:71275641G>A c.248C>T c.(247-249)tCc>tTc p.S83F COADREAD 14 71197366 71197366 + Missense_Mutation SNP G G A TCGA-G4-6309-01A-21D-1835-10 TCGA-G4-6309-10A-01D-1835-10 g.chr14:71197366G>A c.3046C>T c.(3046-3048)Cgc>Tgc p.R1016C COADREAD 14 71199547 71199547 + Missense_Mutation SNP G G A TCGA-AG-3582-01A-01W-0831-10 TCGA-AG-3582-10A-01W-0831-10 g.chr14:71199547G>A c.2539C>T c.(2539-2541)Cgc>Tgc p.R847C COADREAD 14 71199705 71199705 + Missense_Mutation SNP C C T TCGA-AA-A00J-01A-02W-A005-10 TCGA-AA-A00J-10A-01W-A005-10 g.chr14:71199705C>T c.2381G>A c.(2380-2382)cGg>cAg p.R794Q COADREAD 14 71199902 71199902 + Silent SNP C C T TCGA-AZ-4315-01A-01D-1408-10 TCGA-AZ-4315-10A-01D-1408-10 g.chr14:71199902C>T c.2184G>A c.(2182-2184)acG>acA p.T728T COADREAD 14 71199902 71199902 + Silent SNP C C T TCGA-G4-6309-01A-21D-1835-10 TCGA-G4-6309-10A-01D-1835-10 g.chr14:71199902C>T c.2184G>A c.(2182-2184)acG>acA p.T728T COADREAD 14 71200483 71200483 + Intron SNP C C T TCGA-CM-5861-01A-01D-1650-10 TCGA-CM-5861-10A-01D-1650-10 g.chr14:71200483C>T COADREAD 14 71209191 71209191 + Missense_Mutation SNP G G A TCGA-A6-6780-01A-11D-1835-10 TCGA-A6-6780-10A-01D-1835-10 g.chr14:71209191G>A c.1444C>T c.(1444-1446)Cgg>Tgg p.R482W COADREAD 14 71209216 71209216 + Silent SNP G G A TCGA-AA-3811-01A-01W-0995-10 TCGA-AA-3811-10A-01W-0995-10 g.chr14:71209216G>A c.1419C>T c.(1417-1419)gcC>gcT p.A473A COADREAD 14 71209234 71209234 + Silent SNP A A G TCGA-D5-6529-01A-11D-1771-10 TCGA-D5-6529-10A-01D-1771-10 g.chr14:71209234A>G c.1401T>C c.(1399-1401)cgT>cgC p.R467R COADREAD 14 71209236 71209236 + Missense_Mutation SNP G G A TCGA-AZ-6598-01A-11D-1771-10 TCGA-AZ-6598-11A-01D-1771-10 g.chr14:71209236G>A c.1399C>T c.(1399-1401)Cgt>Tgt p.R467C COADREAD 14 71216752 71216752 + Nonsense_Mutation SNP G G A TCGA-AG-A002-01A-01W-A00K-09 TCGA-AG-A002-10A-01W-A00K-09 g.chr14:71216752G>A c.1048C>T c.(1048-1050)Cga>Tga p.R350* COADREAD 14 71227755 71227755 + Missense_Mutation SNP C C T TCGA-AA-3492-01A-01D-1408-10 TCGA-AA-3492-11A-01D-1408-10 g.chr14:71227755C>T c.965G>A c.(964-966)cGg>cAg p.R322Q COADREAD 14 71227816 71227816 + Missense_Mutation SNP G G A TCGA-AA-3525-01A-02W-0833-10 TCGA-AA-3525-10A-01W-0833-10 g.chr14:71227816G>A c.904C>T c.(904-906)Cac>Tac p.H302Y COADREAD 14 71267468 71267468 + Missense_Mutation SNP C C T TCGA-G4-6293-01A-11D-1719-10 TCGA-G4-6293-10A-01D-1719-10 g.chr14:71267468C>T c.736G>A c.(736-738)Gct>Act p.A246T COADREAD 14 71275641 71275641 + Missense_Mutation SNP G G A TCGA-F4-6459-01A-11D-1771-10 TCGA-F4-6459-10A-01D-1771-10 g.chr14:71275641G>A c.248C>T c.(247-249)tCc>tTc p.S83F DLBC 14 71202692 71202692 + Silent SNP T T C TCGA-G8-6324-01A-11D-2210-10 TCGA-G8-6324-10A-01D-2210-10 g.chr14:71202692T>C c.1899A>G c.(1897-1899)ccA>ccG p.P633P DLBC 14 71267772 71267772 + Silent SNP G G A TCGA-G8-6906-01A-11D-2210-10 TCGA-G8-6906-14A-01D-2210-10 g.chr14:71267772G>A c.432C>T c.(430-432)ctC>ctT p.L144L ESCA 14 71204982 71204982 + Silent SNP C C T TCGA-L5-A8NK-01A-21D-A37C-09 TCGA-L5-A8NK-11A-11D-A37F-09 g.chr14:71204982C>T c.1824G>A c.(1822-1824)gaG>gaA p.E608E ESCA 14 71209128 71209128 + Missense_Mutation SNP C C A TCGA-LN-A4A2-01A-31D-A27G-09 TCGA-LN-A4A2-10A-01D-A27G-09 g.chr14:71209128C>A c.1507G>T c.(1507-1509)Ggc>Tgc p.G503C ESCA 14 71209233 71209233 + Frame_Shift_Del DEL G G - TCGA-R6-A6Y2-01B-11D-A33E-09 TCGA-R6-A6Y2-10A-01D-A33H-09 g.chr14:71209233delG c.1402delC c.(1402-1404)cggfs p.R468fs GBM 14 71205013 71205013 + Missense_Mutation SNP G G A TCGA-06-5412-01A-01D-1696-08 TCGA-06-5412-10A-01D-1696-08 g.chr14:71205013G>A c.1793C>T c.(1792-1794)aCg>aTg p.T598M GBM 14 71209191 71209191 + Missense_Mutation SNP G G A TCGA-06-0168-01A-01D-1491-08 TCGA-06-0168-10A-01D-1491-08 g.chr14:71209191G>A c.1444C>T c.(1444-1446)Cgg>Tgg p.R482W GBM 14 71216774 71216774 + Missense_Mutation SNP C C A TCGA-32-4210-01A-01D-1353-08 TCGA-32-4210-10A-01D-1353-08 g.chr14:71216774C>A c.1026G>T c.(1024-1026)ttG>ttT p.L342F GBMLGG 14 71199843 71199843 + Missense_Mutation SNP C C T TCGA-DU-6392-01A-11D-1705-08 TCGA-DU-6392-10A-01D-1705-08 g.chr14:71199843C>T c.2243G>A c.(2242-2244)cGc>cAc p.R748H GBMLGG 14 71205013 71205013 + Missense_Mutation SNP G G A TCGA-06-5412-01A-01D-1696-08 TCGA-06-5412-10A-01D-1696-08 g.chr14:71205013G>A c.1793C>T c.(1792-1794)aCg>aTg p.T598M GBMLGG 14 71206852 71206852 + Missense_Mutation SNP A A T TCGA-DU-6392-01A-11D-1705-08 TCGA-DU-6392-10A-01D-1705-08 g.chr14:71206852A>T c.1597T>A c.(1597-1599)Tcc>Acc p.S533T GBMLGG 14 71209191 71209191 + Missense_Mutation SNP G G A TCGA-06-0168-01A-01D-1491-08 TCGA-06-0168-10A-01D-1491-08 g.chr14:71209191G>A c.1444C>T c.(1444-1446)Cgg>Tgg p.R482W GBMLGG 14 71216774 71216774 + Missense_Mutation SNP C C A TCGA-32-4210-01A-01D-1353-08 TCGA-32-4210-10A-01D-1353-08 g.chr14:71216774C>A c.1026G>T c.(1024-1026)ttG>ttT p.L342F GBMLGG 14 71227862 71227862 + Missense_Mutation SNP G G T TCGA-VW-A8FI-01A-11D-A36O-08 TCGA-VW-A8FI-10A-01D-A367-08 g.chr14:71227862G>T c.858C>A c.(856-858)agC>agA p.S286R HNSC 14 71197410 71197410 + Missense_Mutation SNP C C T TCGA-CV-A45O-01A-21D-A24D-08 TCGA-CV-A45O-10A-01D-A24F-08 g.chr14:71197410C>T c.3002G>A c.(3001-3003)cGg>cAg p.R1001Q HNSC 14 71197533 71197533 + Missense_Mutation SNP C C T TCGA-QK-A6VB-01A-12D-A34J-08 TCGA-QK-A6VB-10B-01D-A34M-08 g.chr14:71197533C>T c.2879G>A c.(2878-2880)cGt>cAt p.R960H HNSC 14 71200025 71200025 + Missense_Mutation SNP C C G TCGA-IQ-A61H-01A-11D-A30E-08 TCGA-IQ-A61H-10A-01D-A30H-08 g.chr14:71200025C>G c.2061G>C c.(2059-2061)gaG>gaC p.E687D HNSC 14 71202729 71202729 + Missense_Mutation SNP T T A TCGA-F7-A623-01A-11D-A28R-08 TCGA-F7-A623-10A-01D-A28U-08 g.chr14:71202729T>A c.1862A>T c.(1861-1863)gAg>gTg p.E621V HNSC 14 71205062 71205062 + Missense_Mutation SNP C C G TCGA-BA-A4IG-01A-11D-A25Y-08 TCGA-BA-A4IG-10A-01D-A25Y-08 g.chr14:71205062C>G c.1744G>C c.(1744-1746)Gag>Cag p.E582Q HNSC 14 71205084 71205084 + Silent SNP G G A TCGA-D6-6515-01A-21D-1870-08 TCGA-D6-6515-10A-01D-1870-08 g.chr14:71205084G>A c.1722C>T c.(1720-1722)ggC>ggT p.G574G HNSC 14 71209185 71209185 + Missense_Mutation SNP G G A TCGA-IQ-7630-01A-11D-2078-08 TCGA-IQ-7630-10A-01D-2078-08 g.chr14:71209185G>A c.1450C>T c.(1450-1452)Ctc>Ttc p.L484F HNSC 14 71227802 71227802 + Missense_Mutation SNP C C A TCGA-HD-A633-01A-11D-A28R-08 TCGA-HD-A633-10A-01D-A28U-08 g.chr14:71227802C>A c.918G>T c.(916-918)aaG>aaT p.K306N HNSC 14 71267534 71267534 + Missense_Mutation SNP G G A TCGA-CQ-A4CE-01A-11D-A25Y-08 TCGA-CQ-A4CE-10A-01D-A25Y-08 g.chr14:71267534G>A c.670C>T c.(670-672)Cgt>Tgt p.R224C HNSC 14 71267584 71267584 + Missense_Mutation SNP C C T TCGA-CR-6473-01A-11D-1870-08 TCGA-CR-6473-10A-01D-1870-08 g.chr14:71267584C>T c.620G>A c.(619-621)aGa>aAa p.R207K KICH 14 71206799 71206799 + Frame_Shift_Del DEL A A - TCGA-KO-8413-01A-11D-2310-10 TCGA-KO-8413-11A-01D-2311-10 g.chr14:71206799delA c.1650delT c.(1648-1650)cctfs p.P550fs KIPAN 14 71206799 71206799 + Frame_Shift_Del DEL A A - TCGA-KO-8413-01A-11D-2310-10 TCGA-KO-8413-11A-01D-2311-10 g.chr14:71206799delA c.1650delT c.(1648-1650)cctfs p.P550fs KIPAN 14 71267589 71267589 + Silent SNP G G A TCGA-CZ-5989-01A-11D-1669-08 TCGA-CZ-5989-11A-01D-1669-08 g.chr14:71267589G>A c.615C>T c.(613-615)gcC>gcT p.A205A KIRC 14 71267589 71267589 + Silent SNP G G A TCGA-CZ-5989-01A-11D-1669-08 TCGA-CZ-5989-11A-01D-1669-08 g.chr14:71267589G>A c.615C>T c.(613-615)gcC>gcT p.A205A LGG 14 71199843 71199843 + Missense_Mutation SNP C C T TCGA-DU-6392-01A-11D-1705-08 TCGA-DU-6392-10A-01D-1705-08 g.chr14:71199843C>T c.2243G>A c.(2242-2244)cGc>cAc p.R748H LGG 14 71206852 71206852 + Missense_Mutation SNP A A T TCGA-DU-6392-01A-11D-1705-08 TCGA-DU-6392-10A-01D-1705-08 g.chr14:71206852A>T c.1597T>A c.(1597-1599)Tcc>Acc p.S533T LGG 14 71227862 71227862 + Missense_Mutation SNP G G T TCGA-VW-A8FI-01A-11D-A36O-08 TCGA-VW-A8FI-10A-01D-A367-08 g.chr14:71227862G>T c.858C>A c.(856-858)agC>agA p.S286R LIHC 14 71199865 71199865 + Missense_Mutation SNP G G A TCGA-4R-AA8I-01A-11D-A382-10 TCGA-4R-AA8I-10B-01D-A385-10 g.chr14:71199865G>A c.2221C>T c.(2221-2223)Cgg>Tgg p.R741W LIHC 14 71201208 71201208 + Missense_Mutation SNP A A G TCGA-DD-A3A1-01A-11D-A20W-10 TCGA-DD-A3A1-11A-11D-A20W-10 g.chr14:71201208A>G c.1921T>C c.(1921-1923)Tcc>Ccc p.S641P LIHC 14 71216737 71216737 + Missense_Mutation SNP A A C TCGA-CC-A8HT-01A-11D-A35Z-10 TCGA-CC-A8HT-10A-01D-A35Z-10 g.chr14:71216737A>C c.1063T>G c.(1063-1065)Tta>Gta p.L355V LUAD 14 71197238 71197238 + Silent SNP C C T TCGA-55-8620-01A-11D-2393-08 TCGA-55-8620-10A-01D-2393-08 g.chr14:71197238C>T c.3174G>A c.(3172-3174)ggG>ggA p.G1058G LUAD 14 71197272 71197272 + Missense_Mutation SNP G G C TCGA-44-6777-01A-11D-1855-08 TCGA-44-6777-10A-01D-1855-08 g.chr14:71197272G>C c.3140C>G c.(3139-3141)cCt>cGt p.P1047R LUAD 14 71197312 71197312 + Missense_Mutation SNP A A T TCGA-50-5066-01A-01D-1625-08 TCGA-50-5066-10A-01D-1625-08 g.chr14:71197312A>T c.3100T>A c.(3100-3102)Tcc>Acc p.S1034T LUAD 14 71197334 71197334 + Silent SNP T T A TCGA-69-7765-01A-11D-2167-08 TCGA-69-7765-10A-01D-2167-08 g.chr14:71197334T>A c.3078A>T c.(3076-3078)acA>acT p.T1026T LUAD 14 71197442 71197442 + Missense_Mutation SNP C C A TCGA-55-1592-01A-01D-0969-08 TCGA-55-1592-11A-01D-0969-08 g.chr14:71197442C>A c.2970G>T c.(2968-2970)gaG>gaT p.E990D LUAD 14 71197546 71197546 + Missense_Mutation SNP C C A TCGA-73-4670-01A-01D-1265-08 TCGA-73-4670-11A-01D-1265-08 g.chr14:71197546C>A c.2866G>T c.(2866-2868)Ggt>Tgt p.G956C LUAD 14 71199455 71199455 + Missense_Mutation SNP G G C TCGA-67-3771-01A-01D-1040-01 TCGA-67-3771-10A-01D-1040-01 g.chr14:71199455G>C c.2631C>G c.(2629-2631)caC>caG p.H877Q LUAD 14 71199499 71199499 + Missense_Mutation SNP G G A TCGA-55-8506-01A-11D-2393-08 TCGA-55-8506-10A-01D-2393-08 g.chr14:71199499G>A c.2587C>T c.(2587-2589)Cca>Tca p.P863S LUAD 14 71199705 71199705 + Missense_Mutation SNP C C A TCGA-17-Z015-01A-01W-0746-08 TCGA-17-Z015-11A-01W-0746-08 g.chr14:71199705C>A c.2381G>T c.(2380-2382)cGg>cTg p.R794L LUAD 14 71202711 71202711 + Missense_Mutation SNP C C A TCGA-55-A4DG-01A-11D-A24D-08 TCGA-55-A4DG-10A-01D-A24F-08 g.chr14:71202711C>A c.1880G>T c.(1879-1881)aGt>aTt p.S627I LUAD 14 71205044 71205044 + Nonsense_Mutation SNP C C A TCGA-44-5644-01A-21D-2036-08 TCGA-44-5644-10A-01D-2036-08 g.chr14:71205044C>A c.1762G>T c.(1762-1764)Gag>Tag p.E588* LUAD 14 71206862 71206862 + Silent SNP C C A TCGA-05-4427-01A-21D-1855-08 TCGA-05-4427-10A-01D-1855-08 g.chr14:71206862C>A c.1587G>T c.(1585-1587)acG>acT p.T529T LUAD 14 71209067 71209067 + Splice_Site SNP C C A TCGA-86-8074-01A-11D-2238-08 TCGA-86-8074-10A-01D-2238-08 g.chr14:71209067C>A c.e6+1 LUAD 14 71209068 71209068 + Splice_Site SNP C C A TCGA-50-5941-01A-11D-1753-08 TCGA-50-5941-10A-01D-1753-08 g.chr14:71209068C>A c.1567G>T c.(1567-1569)Gat>Tat p.D523Y LUAD 14 71209206 71209206 + Missense_Mutation SNP T T A TCGA-49-6743-01A-11D-1855-08 TCGA-49-6743-11A-01D-1855-08 g.chr14:71209206T>A c.1429A>T c.(1429-1431)Att>Ttt p.I477F LUAD 14 71209239 71209239 + Missense_Mutation SNP G G A TCGA-55-7724-01A-11D-2167-08 TCGA-55-7724-10A-01D-2167-08 g.chr14:71209239G>A c.1396C>T c.(1396-1398)Cgg>Tgg p.R466W LUAD 14 71209291 71209291 + Missense_Mutation SNP C C A TCGA-62-A46O-01A-11D-A24D-08 TCGA-62-A46O-10A-01D-A24F-08 g.chr14:71209291C>A c.1344G>T c.(1342-1344)gaG>gaT p.E448D LUAD 14 71216701 71216701 + Missense_Mutation SNP C C A TCGA-17-Z023-01A-01W-0746-08 TCGA-17-Z023-11A-01W-0746-08 g.chr14:71216701C>A c.1099G>T c.(1099-1101)Gcc>Tcc p.A367S LUAD 14 71227747 71227747 + Missense_Mutation SNP T T A TCGA-67-3771-01A-01D-1040-01 TCGA-67-3771-10A-01D-1040-01 g.chr14:71227747T>A c.973A>T c.(973-975)Atg>Ttg p.M325L LUAD 14 71275549 71275549 + Missense_Mutation SNP G G A TCGA-69-7974-01A-11D-2184-08 TCGA-69-7974-10A-01D-2184-08 g.chr14:71275549G>A c.340C>T c.(340-342)Cgc>Tgc p.R114C LUSC 14 71197217 71197217 + Silent SNP C C T TCGA-22-4607-01A-01D-1267-08 TCGA-22-4607-11A-01D-1267-08 g.chr14:71197217C>T c.3195G>A c.(3193-3195)cgG>cgA p.R1065R LUSC 14 71199923 71199923 + Silent SNP G G T TCGA-22-5472-01A-01D-1632-08 TCGA-22-5472-11A-11D-1632-08 g.chr14:71199923G>T c.2163C>A c.(2161-2163)ccC>ccA p.P721P LUSC 14 71209074 71209074 + Missense_Mutation SNP G G A TCGA-18-3409-01A-01D-0983-08 TCGA-18-3409-11A-01D-0983-08 g.chr14:71209074G>A c.1561C>T c.(1561-1563)Cct>Tct p.P521S LUSC 14 71215569 71215569 + Missense_Mutation SNP C C A TCGA-33-4566-01A-01D-1441-08 TCGA-33-4566-11A-01D-1441-08 g.chr14:71215569C>A c.1303G>T c.(1303-1305)Gac>Tac p.D435Y LUSC 14 71227771 71227771 + Missense_Mutation SNP C C T TCGA-66-2773-01A-01D-1267-08 TCGA-66-2773-11A-01D-1267-08 g.chr14:71227771C>T c.949G>A c.(949-951)Gca>Aca p.A317T OV 14 71267537 71267537 + Missense_Mutation SNP C C T TCGA-61-1727-01A-01W-0639-09 TCGA-61-1727-11A-01W-0639-09 g.chr14:71267537C>T c.667G>A c.(667-669)Gct>Act p.A223T OV 14 71275547 71275547 + Silent SNP G G A TCGA-29-2432-01A-01D-1526-09 TCGA-29-2432-10A-01D-1526-09 g.chr14:71275547G>A c.342C>T c.(340-342)cgC>cgT p.R114R PAAD 14 71200060 71200060 + Splice_Site SNP C C G TCGA-3A-A9I9-01A-11D-A38G-08 TCGA-3A-A9I9-10A-01D-A38J-08 g.chr14:71200060C>G c.e11-1 PAAD 14 71209085 71209085 + Missense_Mutation SNP C C T TCGA-IB-A5SP-01A-11D-A32N-08 TCGA-IB-A5SP-10A-01D-A32N-08 g.chr14:71209085C>T c.1550G>A c.(1549-1551)cGc>cAc p.R517H PAAD 14 71209278 71209278 + Missense_Mutation SNP G G A TCGA-IB-7651-01A-11D-2154-08 TCGA-IB-7651-10A-01D-2154-08 g.chr14:71209278G>A c.1357C>T c.(1357-1359)Cgg>Tgg p.R453W PAAD 14 71267541 71267541 + Silent SNP C C T TCGA-IB-7651-01A-11D-2154-08 TCGA-IB-7651-10A-01D-2154-08 g.chr14:71267541C>T c.663G>A c.(661-663)gaG>gaA p.E221E PAAD 14 71267726 71267726 + Missense_Mutation SNP G G A TCGA-IB-7651-01A-11D-2154-08 TCGA-IB-7651-10A-01D-2154-08 g.chr14:71267726G>A c.478C>T c.(478-480)Cgt>Tgt p.R160C PRAD 14 71197290 71197290 + Missense_Mutation SNP C C T TCGA-XK-AAIW-01A-11D-A41K-08 TCGA-XK-AAIW-10A-01D-A41N-08 g.chr14:71197290C>T c.3122G>A c.(3121-3123)aGc>aAc p.S1041N PRAD 14 71215544 71215544 + Splice_Site SNP A A T TCGA-EJ-5527-01A-01D-1576-08 TCGA-EJ-5527-10A-01D-1577-08 g.chr14:71215544A>T c.e5+1 PRAD 14 71216681 71216681 + Silent SNP C C T TCGA-J9-A52C-01A-11D-A26M-08 TCGA-J9-A52C-10A-01D-A26K-08 g.chr14:71216681C>T c.1119G>A c.(1117-1119)acG>acA p.T373T PRAD 14 71267462 71267462 + Nonsense_Mutation SNP G G A TCGA-XK-AAIW-01A-11D-A41K-08 TCGA-XK-AAIW-10A-01D-A41N-08 g.chr14:71267462G>A c.742C>T c.(742-744)Cag>Tag p.Q248* PRAD 14 71267477 71267477 + Missense_Mutation SNP C C T TCGA-M7-A725-01A-12D-A32B-08 TCGA-M7-A725-10A-01D-A329-08 g.chr14:71267477C>T c.727G>A c.(727-729)Gtg>Atg p.V243M READ 14 71199547 71199547 + Missense_Mutation SNP G G A TCGA-AG-3582-01A-01W-0831-10 TCGA-AG-3582-10A-01W-0831-10 g.chr14:71199547G>A c.2539C>T c.(2539-2541)Cgc>Tgc p.R847C READ 14 71216752 71216752 + Nonsense_Mutation SNP G G A TCGA-AG-A002-01A-01W-A00K-09 TCGA-AG-A002-10A-01W-A00K-09 g.chr14:71216752G>A c.1048C>T c.(1048-1050)Cga>Tga p.R350* SARC 14 71199670 71199670 + Missense_Mutation SNP G G A TCGA-3B-A9HT-01A-11D-A38Z-09 TCGA-3B-A9HT-10A-01D-A38Z-09 g.chr14:71199670G>A c.2416C>T c.(2416-2418)Cgg>Tgg p.R806W SARC 14 71199867 71199867 + Missense_Mutation SNP T T C TCGA-IW-A3M5-01A-22D-A21Q-09 TCGA-IW-A3M5-10A-01D-A21Q-09 g.chr14:71199867T>C c.2219A>G c.(2218-2220)aAg>aGg p.K740R SKCM 14 71197118 71197118 + Silent SNP G G A TCGA-EE-A2GT-06A-12D-A197-08 TCGA-EE-A2GT-10A-01D-A199-08 g.chr14:71197118G>A c.3294C>T c.(3292-3294)atC>atT p.I1098I SKCM 14 71197228 71197228 + Missense_Mutation SNP G G A TCGA-EE-A2MS-06A-11D-A197-08 TCGA-EE-A2MS-10A-01D-A199-08 g.chr14:71197228G>A c.3184C>T c.(3184-3186)Ccg>Tcg p.P1062S SKCM 14 71197414 71197414 + Missense_Mutation SNP T T A TCGA-EE-A29H-06A-12D-A197-08 TCGA-EE-A29H-10A-01D-A199-08 g.chr14:71197414T>A c.2998A>T c.(2998-3000)Aac>Tac p.N1000Y SKCM 14 71199336 71199336 + Missense_Mutation SNP G G A TCGA-FS-A4FD-06A-11D-A25O-08 TCGA-FS-A4FD-10B-01D-A25O-08 g.chr14:71199336G>A c.2750C>T c.(2749-2751)tCt>tTt p.S917F SKCM 14 71199392 71199392 + Silent SNP G G A TCGA-D9-A1JX-06A-11D-A19A-08 TCGA-D9-A1JX-10A-01D-A19A-08 g.chr14:71199392G>A c.2694C>T c.(2692-2694)ccC>ccT p.P898P SKCM 14 71199412 71199412 + Missense_Mutation SNP G G A TCGA-EE-A2GO-06A-11D-A196-08 TCGA-EE-A2GO-10A-01D-A198-08 g.chr14:71199412G>A c.2674C>T c.(2674-2676)Cct>Tct p.P892S SKCM 14 71199482 71199482 + Silent SNP C C T TCGA-EE-A3AB-06A-11D-A196-08 TCGA-EE-A3AB-10A-01D-A198-08 g.chr14:71199482C>T c.2604G>A c.(2602-2604)gaG>gaA p.E868E SKCM 14 71199520 71199520 + Missense_Mutation SNP C C T TCGA-EE-A29V-06A-12D-A197-08 TCGA-EE-A29V-10A-01D-A199-08 g.chr14:71199520C>T c.2566G>A c.(2566-2568)Gaa>Aaa p.E856K SKCM 14 71199522 71199522 + Missense_Mutation SNP T T C TCGA-EE-A3AB-06A-11D-A196-08 TCGA-EE-A3AB-10A-01D-A198-08 g.chr14:71199522T>C c.2564A>G c.(2563-2565)gAt>gGt p.D855G SKCM 14 71199523 71199523 + Missense_Mutation SNP C C T TCGA-FS-A1ZW-06A-12D-A197-08 TCGA-FS-A1ZW-10A-01D-A199-08 g.chr14:71199523C>T c.2563G>A c.(2563-2565)Gat>Aat p.D855N SKCM 14 71199552 71199552 + Missense_Mutation SNP G G A TCGA-EE-A29Q-06A-11D-A197-08 TCGA-EE-A29Q-10A-01D-A199-08 g.chr14:71199552G>A c.2534C>T c.(2533-2535)tCc>tTc p.S845F SKCM 14 71199670 71199670 + Missense_Mutation SNP G G A TCGA-EE-A29D-06A-11D-A197-08 TCGA-EE-A29D-10A-01D-A199-08 g.chr14:71199670G>A c.2416C>T c.(2416-2418)Cgg>Tgg p.R806W SKCM 14 71199749 71199749 + Silent SNP G G A TCGA-EE-A29M-06A-11D-A196-08 TCGA-EE-A29M-10A-01D-A198-08 g.chr14:71199749G>A c.2337C>T c.(2335-2337)ccC>ccT p.P779P SKCM 14 71199751 71199751 + Missense_Mutation SNP G G A TCGA-ER-A19F-06A-11D-A196-08 TCGA-ER-A19F-10A-01D-A198-08 g.chr14:71199751G>A c.2335C>T c.(2335-2337)Ccc>Tcc p.P779S SKCM 14 71199934 71199934 + Missense_Mutation SNP G G A TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 g.chr14:71199934G>A c.2152C>T c.(2152-2154)Cat>Tat p.H718Y SKCM 14 71199977 71199977 + Missense_Mutation SNP G G T TCGA-D3-A5GL-06A-11D-A27K-08 TCGA-D3-A5GL-10A-01D-A27N-08 g.chr14:71199977G>T c.2109C>A c.(2107-2109)ttC>ttA p.F703L SKCM 14 71200008 71200008 + Missense_Mutation SNP G G A TCGA-FW-A3R5-06A-11D-A23B-08 TCGA-FW-A3R5-10A-01D-A23B-08 g.chr14:71200008G>A c.2078C>T c.(2077-2079)tCa>tTa p.S693L SKCM 14 71202707 71202707 + Silent SNP G G A TCGA-ER-A198-06A-11D-A196-08 TCGA-ER-A198-10A-01D-A198-08 g.chr14:71202707G>A c.1884C>T c.(1882-1884)acC>acT p.T628T SKCM 14 71202744 71202744 + Missense_Mutation SNP G G A TCGA-EE-A2MT-06A-11D-A197-08 TCGA-EE-A2MT-10A-01D-A199-08 g.chr14:71202744G>A c.1847C>T c.(1846-1848)tCc>tTc p.S616F SKCM 14 71204985 71204985 + Silent SNP C C T TCGA-GF-A6C9-06A-11D-A30X-08 TCGA-GF-A6C9-10A-01D-A30X-08 g.chr14:71204985C>T c.1821G>A c.(1819-1821)aaG>aaA p.K607K SKCM 14 71205035 71205035 + Missense_Mutation SNP C C T TCGA-EE-A29D-06A-11D-A197-08 TCGA-EE-A29D-10A-01D-A199-08 g.chr14:71205035C>T c.1771G>A c.(1771-1773)Gcc>Acc p.A591T SKCM 14 71205045 71205045 + Silent SNP C C T TCGA-ER-A19J-06A-11D-A196-08 TCGA-ER-A19J-10A-01D-A198-08 g.chr14:71205045C>T c.1761G>A c.(1759-1761)gaG>gaA p.E587E SKCM 14 71206780 71206780 + Missense_Mutation SNP G G A TCGA-GN-A266-06A-11D-A197-08 TCGA-GN-A266-10A-01D-A199-08 g.chr14:71206780G>A c.1669C>T c.(1669-1671)Cct>Tct p.P557S SKCM 14 71206851 71206851 + Missense_Mutation SNP G G T TCGA-EE-A3JA-06A-11D-A20D-08 TCGA-EE-A3JA-10A-01D-A20D-08 g.chr14:71206851G>T c.1598C>A c.(1597-1599)tCc>tAc p.S533Y SKCM 14 71209195 71209195 + Silent SNP C C T TCGA-EE-A2GJ-06A-11D-A196-08 TCGA-EE-A2GJ-10A-01D-A198-08 g.chr14:71209195C>T c.1440G>A c.(1438-1440)ctG>ctA p.L480L SKCM 14 71209197 71209197 + Silent SNP G G A TCGA-EE-A2MM-06A-11D-A196-08 TCGA-EE-A2MM-10A-01D-A198-08 g.chr14:71209197G>A c.1438C>T c.(1438-1440)Ctg>Ttg p.L480L SKCM 14 71209294 71209294 + Nonsense_Mutation SNP C C T TCGA-ER-A193-06A-12D-A197-08 TCGA-ER-A193-10A-01D-A199-08 g.chr14:71209294C>T c.1341G>A c.(1339-1341)tgG>tgA p.W447* SKCM 14 71215635 71215635 + Missense_Mutation SNP C C T TCGA-EE-A20C-06A-11D-A196-08 TCGA-EE-A20C-10A-01D-A198-08 g.chr14:71215635C>T c.1237G>A c.(1237-1239)Gaa>Aaa p.E413K SKCM 14 71215675 71215675 + Silent SNP G G A TCGA-ER-A42L-06A-11D-A24R-08 TCGA-ER-A42L-10A-01D-A24R-08 g.chr14:71215675G>A c.1197C>T c.(1195-1197)atC>atT p.I399I SKCM 14 71216688 71216688 + Missense_Mutation SNP G G A TCGA-GF-A6C9-06A-11D-A30X-08 TCGA-GF-A6C9-10A-01D-A30X-08 g.chr14:71216688G>A c.1112C>T c.(1111-1113)cCt>cTt p.P371L SKCM 14 71216738 71216738 + Silent SNP G G A TCGA-RP-A695-06A-11D-A30X-08 TCGA-RP-A695-10A-01D-A30X-08 g.chr14:71216738G>A c.1062C>T c.(1060-1062)ggC>ggT p.G354G SKCM 14 71216739 71216739 + Missense_Mutation SNP C C T TCGA-EE-A2MI-06A-11D-A197-08 TCGA-EE-A2MI-10A-01D-A199-08 g.chr14:71216739C>T c.1061G>A c.(1060-1062)gGc>gAc p.G354D SKCM 14 71227756 71227756 + Missense_Mutation SNP G G A TCGA-FW-A3TU-06A-11D-A23B-08 TCGA-FW-A3TU-10A-01D-A23B-08 g.chr14:71227756G>A c.964C>T c.(964-966)Cgg>Tgg p.R322W SKCM 14 71227825 71227825 + Missense_Mutation SNP G G A TCGA-D3-A2J8-06A-11D-A196-08 TCGA-D3-A2J8-10A-01D-A198-08 g.chr14:71227825G>A c.895C>T c.(895-897)Cgg>Tgg p.R299W SKCM 14 71267481 71267481 + Silent SNP G G A TCGA-FW-A3R5-06A-11D-A23B-08 TCGA-FW-A3R5-10A-01D-A23B-08 g.chr14:71267481G>A c.723C>T c.(721-723)atC>atT p.I241I SKCM 14 71267489 71267489 + Missense_Mutation SNP G G A TCGA-FR-A3YN-06A-11D-A23B-08 TCGA-FR-A3YN-10A-01D-A23B-08 g.chr14:71267489G>A c.715C>T c.(715-717)Cca>Tca p.P239S SKCM 14 71267526 71267526 + Silent SNP T T C TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 g.chr14:71267526T>C c.678A>G c.(676-678)ggA>ggG p.G226G SKCM 14 71267675 71267675 + Missense_Mutation SNP G G A TCGA-FW-A3R5-06A-11D-A23B-08 TCGA-FW-A3R5-10A-01D-A23B-08 g.chr14:71267675G>A c.529C>T c.(529-531)Cct>Tct p.P177S SKCM 14 71267682 71267682 + Silent SNP G G A TCGA-EE-A3AG-06A-31D-A196-08 TCGA-EE-A3AG-10A-01D-A198-08 g.chr14:71267682G>A c.522C>T c.(520-522)cgC>cgT p.R174R SKCM 14 71267726 71267726 + Missense_Mutation SNP G G A TCGA-D3-A3MU-06A-11D-A21A-08 TCGA-D3-A3MU-10A-01D-A21A-08 g.chr14:71267726G>A c.478C>T c.(478-480)Cgt>Tgt p.R160C SKCM 14 71267772 71267772 + Silent SNP G G A TCGA-FW-A3R5-06A-11D-A23B-08 TCGA-FW-A3R5-10A-01D-A23B-08 g.chr14:71267772G>A c.432C>T c.(430-432)ctC>ctT p.L144L SKCM 14 71275762 71275764 + In_Frame_Del DEL CCG CCG - TCGA-D3-A3MO-06A-11D-A21A-08 TCGA-D3-A3MO-10A-01D-A21A-08 g.chr14:71275762_71275764delCCG c.125_127delCGG c.(124-129)gcggtg>gtg p.A42del

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 14 71199849 71199849 single base substitution T G missense_variant H474P 1421A>C BLCA-CN 14 71199849 71199849 single base substitution T G missense_variant H479P 1436A>C BLCA-CN 14 71199849 71199849 single base substitution T G missense_variant H723P 2168A>C BLCA-CN 14 71199849 71199849 single base substitution T G missense_variant H746P 2237A>C BLCA-CN 14 71199849 71199849 single base substitution T G missense_variant H760P 2279A>C BLCA-US 14 71199958 71199958 single base substitution C T missense_variant D438N 1312G>A BLCA-US 14 71199958 71199958 single base substitution C T missense_variant D443N 1327G>A BLCA-US 14 71199958 71199958 single base substitution C T missense_variant D687N 2059G>A BLCA-US 14 71199958 71199958 single base substitution C T missense_variant D710N 2128G>A BLCA-US 14 71199958 71199958 single base substitution C T missense_variant D724N 2170G>A BLCA-US 14 71275774 71275776 deletion of <=200bp CCT - disruptive_inframe_deletion EA38A BOCA-FR 14 71253395 71253395 single base substitution G T intron_variant BOCA-FR 14 71253395 71253395 single base substitution G T upstream_gene_variant BOCA-FR 14 71262346 71262346 single base substitution A G intron_variant BRCA-EU 14 71184264 71184264 single base substitution C T downstream_gene_variant BRCA-EU 14 71185786 71185786 single base substitution C G downstream_gene_variant BRCA-EU 14 71186660 71186660 single base substitution A G downstream_gene_variant BRCA-EU 14 71188163 71188200 deletion of <=200bp GGTCAGAGAGAAATGAAAGGTTACAGCATTCACACAAG - downstream_gene_variant BRCA-EU 14 71193030 71193030 single base substitution G C 3_prime_UTR_variant BRCA-EU 14 71193030 71193030 single base substitution G C downstream_gene_variant BRCA-EU 14 71193454 71193454 single base substitution G T 3_prime_UTR_variant BRCA-EU 14 71193454 71193454 single base substitution G T downstream_gene_variant BRCA-EU 14 71195580 71195580 single base substitution G A 3_prime_UTR_variant BRCA-EU 14 71195580 71195580 single base substitution G A downstream_gene_variant BRCA-EU 14 71198161 71198161 single base substitution C T intron_variant BRCA-EU 14 71198723 71198723 single base substitution C T intron_variant BRCA-EU 14 71200768 71200768 single base substitution C T intron_variant BRCA-EU 14 71205137 71205137 single base substitution T C intron_variant BRCA-EU 14 71206358 71206358 insertion of <=200bp - A intron_variant BRCA-EU 14 71206593 71206593 single base substitution A C intron_variant BRCA-EU 14 71207449 71207449 single base substitution G C intron_variant BRCA-EU 14 71208557 71208557 insertion of <=200bp - A intron_variant BRCA-EU 14 71209448 71209448 single base substitution C T intron_variant BRCA-EU 14 71210014 71210014 single base substitution C G intron_variant BRCA-EU 14 71210682 71210682 single base substitution T A intron_variant BRCA-EU 14 71211216 71211216 single base substitution G T intron_variant BRCA-EU 14 71211434 71211434 single base substitution C T downstream_gene_variant BRCA-EU 14 71211434 71211434 single base substitution C T intron_variant BRCA-EU 14 71211709 71211709 single base substitution C G downstream_gene_variant BRCA-EU 14 71211709 71211709 single base substitution C G intron_variant BRCA-EU 14 71216724 71216724 single base substitution T G exon_variant BRCA-EU 14 71216724 71216724 single base substitution T G missense_variant Y359S 1076A>C BRCA-EU 14 71216724 71216724 single base substitution T G missense_variant Y53S 158A>C BRCA-EU 14 71216724 71216724 single base substitution T G missense_variant Y96S 287A>C BRCA-EU 14 71217590 71217590 single base substitution T G intron_variant BRCA-EU 14 71217606 71217606 deletion of <=200bp T - intron_variant BRCA-EU 14 71218359 71218359 single base substitution C G intron_variant BRCA-EU 14 71219838 71219838 single base substitution C T intron_variant BRCA-EU 14 71219838 71219838 single base substitution C T upstream_gene_variant BRCA-EU 14 71220427 71220427 single base substitution T G intron_variant BRCA-EU 14 71220427 71220427 single base substitution T G upstream_gene_variant BRCA-EU 14 71220559 71220559 deletion of <=200bp T - intron_variant BRCA-EU 14 71220559 71220559 deletion of <=200bp T - upstream_gene_variant BRCA-EU 14 71223338 71223338 single base substitution C T intron_variant BRCA-EU 14 71223338 71223338 single base substitution C T upstream_gene_variant BRCA-EU 14 71224092 71224092 single base substitution C T intron_variant BRCA-EU 14 71224092 71224092 single base substitution C T upstream_gene_variant BRCA-EU 14 71224840 71224840 deletion of <=200bp A - intron_variant BRCA-EU 14 71225100 71225100 deletion of <=200bp A - intron_variant BRCA-EU 14 71228468 71228468 deletion of <=200bp T - intron_variant BRCA-EU 14 71230743 71230743 single base substitution A C intron_variant BRCA-EU 14 71231248 71231248 single base substitution T A intron_variant BRCA-EU 14 71231331 71231331 single base substitution T G intron_variant BRCA-EU 14 71231835 71231835 single base substitution C G intron_variant BRCA-EU 14 71232346 71232346 single base substitution T C intron_variant BRCA-EU 14 71233138 71233138 single base substitution G T intron_variant BRCA-EU 14 71233898 71233898 single base substitution C G intron_variant BRCA-EU 14 71234050 71234050 single base substitution G A intron_variant BRCA-EU 14 71234947 71234947 single base substitution C T intron_variant BRCA-EU 14 71235425 71235425 single base substitution G A intron_variant BRCA-EU 14 71235875 71235875 deletion of <=200bp A - intron_variant BRCA-EU 14 71238731 71238731 single base substitution C T intron_variant BRCA-EU 14 71239326 71239326 single base substitution G A intron_variant BRCA-EU 14 71241149 71241149 single base substitution G A intron_variant BRCA-EU 14 71241494 71241494 single base substitution G C intron_variant BRCA-EU 14 71241664 71241664 single base substitution G A intron_variant BRCA-EU 14 71243480 71243480 single base substitution C G intron_variant BRCA-EU 14 71244194 71244194 deletion of <=200bp A - intron_variant BRCA-EU 14 71245712 71245712 single base substitution C T intron_variant BRCA-EU 14 71246133 71246133 single base substitution G C intron_variant BRCA-EU 14 71246663 71246663 single base substitution G A intron_variant BRCA-EU 14 71248784 71248784 single base substitution T C intron_variant BRCA-EU 14 71249060 71249060 single base substitution G A intron_variant BRCA-EU 14 71249315 71249315 single base substitution C T intron_variant BRCA-EU 14 71249730 71249730 single base substitution T C intron_variant BRCA-EU 14 71249805 71249805 single base substitution G A intron_variant BRCA-EU 14 71250549 71250549 single base substitution G T intron_variant BRCA-EU 14 71250549 71250549 single base substitution G T upstream_gene_variant BRCA-EU 14 71250636 71250636 single base substitution A T intron_variant BRCA-EU 14 71250636 71250636 single base substitution A T upstream_gene_variant BRCA-EU 14 71250917 71250917 single base substitution T C intron_variant BRCA-EU 14 71250917 71250917 single base substitution T C upstream_gene_variant BRCA-EU 14 71252299 71252299 single base substitution G C intron_variant BRCA-EU 14 71252299 71252299 single base substitution G C upstream_gene_variant BRCA-EU 14 71252363 71252363 single base substitution C T intron_variant BRCA-EU 14 71252363 71252363 single base substitution C T upstream_gene_variant BRCA-EU 14 71253751 71253751 single base substitution G A intron_variant BRCA-EU 14 71253751 71253751 single base substitution G A upstream_gene_variant BRCA-EU 14 71253802 71253802 single base substitution T C intron_variant BRCA-EU 14 71253802 71253802 single base substitution T C upstream_gene_variant BRCA-EU 14 71256134 71256134 single base substitution G A intron_variant BRCA-EU 14 71258082 71258082 single base substitution C T intron_variant BRCA-EU 14 71258917 71258917 single base substitution C T intron_variant BRCA-EU 14 71258977 71258977 single base substitution C T intron_variant BRCA-EU 14 71259091 71259091 single base substitution G T intron_variant BRCA-EU 14 71259419 71259419 single base substitution G C intron_variant BRCA-EU 14 71261504 71261504 single base substitution C A intron_variant BRCA-EU 14 71262407 71262407 single base substitution G C intron_variant BRCA-EU 14 71264569 71264569 single base substitution C T intron_variant BRCA-EU 14 71265637 71265637 single base substitution C T intron_variant BRCA-EU 14 71265917 71265917 single base substitution G A intron_variant BRCA-EU 14 71266549 71266549 single base substitution C T intron_variant BRCA-EU 14 71266680 71266680 single base substitution A T intron_variant BRCA-EU 14 71269290 71269290 single base substitution C G intron_variant BRCA-EU 14 71269818 71269818 single base substitution G T intron_variant BRCA-EU 14 71270821 71270821 single base substitution G C intron_variant BRCA-EU 14 71271174 71271174 single base substitution G A intron_variant BRCA-EU 14 71273166 71273166 single base substitution A T intron_variant BRCA-EU 14 71274077 71274077 single base substitution G C intron_variant BRCA-EU 14 71274416 71274416 single base substitution C G intron_variant BRCA-EU 14 71275314 71275314 single base substitution C T intron_variant BRCA-EU 14 71277078 71277078 single base substitution C T upstream_gene_variant BRCA-EU 14 71277523 71277523 single base substitution C G upstream_gene_variant BRCA-EU 14 71277736 71277736 single base substitution T C upstream_gene_variant BRCA-EU 14 71279276 71279276 single base substitution G A upstream_gene_variant BRCA-EU 14 71280625 71280625 single base substitution A C upstream_gene_variant BRCA-FR 14 71193030 71193030 single base substitution G C 3_prime_UTR_variant BRCA-FR 14 71193030 71193030 single base substitution G C downstream_gene_variant BRCA-FR 14 71196177 71196177 single base substitution G C 3_prime_UTR_variant BRCA-FR 14 71196177 71196177 single base substitution G C downstream_gene_variant BRCA-FR 14 71211216 71211216 single base substitution G T intron_variant BRCA-FR 14 71220427 71220427 single base substitution T G intron_variant BRCA-FR 14 71220427 71220427 single base substitution T G upstream_gene_variant BRCA-FR 14 71224092 71224092 single base substitution C T intron_variant BRCA-FR 14 71224092 71224092 single base substitution C T upstream_gene_variant BRCA-FR 14 71229891 71229891 single base substitution G A intron_variant BRCA-FR 14 71244567 71244567 single base substitution C T intron_variant BRCA-FR 14 71248823 71248823 single base substitution C T intron_variant BRCA-FR 14 71256134 71256134 single base substitution G A intron_variant BRCA-FR 14 71270359 71270359 single base substitution C G intron_variant BRCA-FR 14 71270361 71270361 single base substitution G C intron_variant BRCA-FR 14 71270383 71270383 single base substitution G T intron_variant BRCA-FR 14 71270404 71270404 single base substitution G C intron_variant BRCA-FR 14 71270821 71270821 single base substitution G C intron_variant BRCA-FR 14 71275314 71275314 single base substitution C T intron_variant BRCA-UK 14 71210014 71210014 single base substitution C G intron_variant BRCA-UK 14 71218558 71218558 single base substitution C G intron_variant BRCA-UK 14 71219082 71219082 single base substitution C G intron_variant BRCA-UK 14 71234947 71234947 single base substitution C T intron_variant BRCA-UK 14 71239326 71239326 single base substitution G A intron_variant BRCA-UK 14 71252718 71252718 single base substitution G A intron_variant BRCA-UK 14 71252718 71252718 single base substitution G A upstream_gene_variant BRCA-UK 14 71267448 71267448 single base substitution C T synonymous_variant G252G 756G>A BRCA-UK 14 71274416 71274416 single base substitution C G intron_variant BRCA-UK 14 71275306 71275306 single base substitution G C intron_variant BRCA-UK 14 71280625 71280625 single base substitution A C upstream_gene_variant BRCA-US 14 71197420 71197420 deletion of <=200bp A - frameshift_variant S1012 BRCA-US 14 71197420 71197420 deletion of <=200bp A - frameshift_variant S726 BRCA-US 14 71197420 71197420 deletion of <=200bp A - frameshift_variant S731 BRCA-US 14 71197420 71197420 deletion of <=200bp A - frameshift_variant S975 BRCA-US 14 71197420 71197420 deletion of <=200bp A - frameshift_variant S998 BRCA-US 14 71197537 71197537 single base substitution G C missense_variant P687A 2059C>G BRCA-US 14 71197537 71197537 single base substitution G C missense_variant P692A 2074C>G BRCA-US 14 71197537 71197537 single base substitution G C missense_variant P936A 2806C>G BRCA-US 14 71197537 71197537 single base substitution G C missense_variant P959A 2875C>G BRCA-US 14 71197537 71197537 single base substitution G C missense_variant P973A 2917C>G BRCA-US 14 71199275 71199275 single base substitution C G missense_variant L665F 1995G>C BRCA-US 14 71199275 71199275 single base substitution C G missense_variant L670F 2010G>C BRCA-US 14 71199275 71199275 single base substitution C G missense_variant L914F 2742G>C BRCA-US 14 71199275 71199275 single base substitution C G missense_variant L937F 2811G>C BRCA-US 14 71199275 71199275 single base substitution C G missense_variant L951F 2853G>C BRCA-US 14 71206700 71206700 deletion of <=200bp A - frameshift_variant A277 BRCA-US 14 71206700 71206700 deletion of <=200bp A - intron_variant BRCA-US 14 71206789 71206789 single base substitution T G missense_variant T248P 742A>C BRCA-US 14 71206789 71206789 single base substitution T G missense_variant T291P 871A>C BRCA-US 14 71206789 71206789 single base substitution T G missense_variant T554P 1660A>C BRCA-US 14 71267708 71267708 single base substitution C T missense_variant D166N 496G>A BTCA-JP 14 71197298 71197298 single base substitution G A synonymous_variant S1015S 3045C>T BTCA-JP 14 71197298 71197298 single base substitution G A synonymous_variant S1038S 3114C>T BTCA-JP 14 71197298 71197298 single base substitution G A synonymous_variant S1052S 3156C>T BTCA-JP 14 71197298 71197298 single base substitution G A synonymous_variant S766S 2298C>T BTCA-JP 14 71197298 71197298 single base substitution G A synonymous_variant S771S 2313C>T BTCA-JP 14 71201311 71201311 single base substitution C T intron_variant BTCA-JP 14 71216974 71216974 single base substitution A G intron_variant BTCA-JP 14 71275825 71275825 deletion of <=200bp C - frameshift_variant E22 CESC-US 14 71197275 71197275 single base substitution C T missense_variant R1023Q 3068G>A CESC-US 14 71197275 71197275 single base substitution C T missense_variant R1046Q 3137G>A CESC-US 14 71197275 71197275 single base substitution C T missense_variant R1060Q 3179G>A CESC-US 14 71197275 71197275 single base substitution C T missense_variant R774Q 2321G>A CESC-US 14 71197275 71197275 single base substitution C T missense_variant R779Q 2336G>A CESC-US 14 71197432 71197432 single base substitution G A missense_variant R1008W 3022C>T CESC-US 14 71197432 71197432 single base substitution G A missense_variant R722W 2164C>T CESC-US 14 71197432 71197432 single base substitution G A missense_variant R727W 2179C>T CESC-US 14 71197432 71197432 single base substitution G A missense_variant R971W 2911C>T CESC-US 14 71197432 71197432 single base substitution G A missense_variant R994W 2980C>T CESC-US 14 71199564 71199564 single base substitution G C missense_variant S569C 1706C>G CESC-US 14 71199564 71199564 single base substitution G C missense_variant S574C 1721C>G CESC-US 14 71199564 71199564 single base substitution G C missense_variant S818C 2453C>G CESC-US 14 71199564 71199564 single base substitution G C missense_variant S841C 2522C>G CESC-US 14 71199564 71199564 single base substitution G C missense_variant S855C 2564C>G CESC-US 14 71215635 71215635 single base substitution C G downstream_gene_variant CESC-US 14 71215635 71215635 single base substitution C G missense_variant E107Q 319G>C CESC-US 14 71215635 71215635 single base substitution C G missense_variant E150Q 448G>C CESC-US 14 71215635 71215635 single base substitution C G missense_variant E413Q 1237G>C CESC-US 14 71267429 71267429 single base substitution C T missense_variant E259K 775G>A CESC-US 14 71267556 71267556 single base substitution G C synonymous_variant L216L 648C>G CLLE-ES 14 71207546 71207546 single base substitution G A intron_variant CLLE-ES 14 71208741 71208741 single base substitution G C intron_variant CLLE-ES 14 71237623 71237623 single base substitution G A intron_variant CLLE-ES 14 71246279 71246279 single base substitution T C intron_variant COAD-US 14 71197366 71197366 single base substitution G A missense_variant R1016C 3046C>T COAD-US 14 71197366 71197366 single base substitution G A missense_variant R1030C 3088C>T COAD-US 14 71197366 71197366 single base substitution G A missense_variant R744C 2230C>T COAD-US 14 71197366 71197366 single base substitution G A missense_variant R749C 2245C>T COAD-US 14 71197366 71197366 single base substitution G A missense_variant R993C 2977C>T COAD-US 14 71197405 71197405 single base substitution G A missense_variant R1003W 3007C>T COAD-US 14 71197405 71197405 single base substitution G A missense_variant R1017W 3049C>T COAD-US 14 71197405 71197405 single base substitution G A missense_variant R731W 2191C>T COAD-US 14 71197405 71197405 single base substitution G A missense_variant R736W 2206C>T COAD-US 14 71197405 71197405 single base substitution G A missense_variant R980W 2938C>T COAD-US 14 71199426 71199426 single base substitution C T missense_variant R615H 1844G>A COAD-US 14 71199426 71199426 single base substitution C T missense_variant R620H 1859G>A COAD-US 14 71199426 71199426 single base substitution C T missense_variant R864H 2591G>A COAD-US 14 71199426 71199426 single base substitution C T missense_variant R887H 2660G>A COAD-US 14 71199426 71199426 single base substitution C T missense_variant R901H 2702G>A COAD-US 14 71199902 71199902 single base substitution C T synonymous_variant T456T 1368G>A COAD-US 14 71199902 71199902 single base substitution C T synonymous_variant T461T 1383G>A COAD-US 14 71199902 71199902 single base substitution C T synonymous_variant T705T 2115G>A COAD-US 14 71199902 71199902 single base substitution C T synonymous_variant T728T 2184G>A COAD-US 14 71199902 71199902 single base substitution C T synonymous_variant T742T 2226G>A COAD-US 14 71200483 71200483 single base substitution C T intron_variant COAD-US 14 71200483 71200483 single base substitution C T missense_variant D401N 1201G>A COAD-US 14 71200483 71200483 single base substitution C T missense_variant D406N 1216G>A COAD-US 14 71200483 71200483 single base substitution C T missense_variant D687N 2059G>A COAD-US 14 71201179 71201179 single base substitution C G synonymous_variant S364S 1092G>C COAD-US 14 71201179 71201179 single base substitution C G synonymous_variant S369S 1107G>C COAD-US 14 71201179 71201179 single base substitution C G synonymous_variant S627S 1881G>C COAD-US 14 71201179 71201179 single base substitution C G synonymous_variant S650S 1950G>C COAD-US 14 71201192 71201192 single base substitution T C missense_variant Y360C 1079A>G COAD-US 14 71201192 71201192 single base substitution T C missense_variant Y365C 1094A>G COAD-US 14 71201192 71201192 single base substitution T C missense_variant Y623C 1868A>G COAD-US 14 71201192 71201192 single base substitution T C missense_variant Y646C 1937A>G COAD-US 14 71209191 71209191 single base substitution G A missense_variant R176W 526C>T COAD-US 14 71209191 71209191 single base substitution G A missense_variant R219W 655C>T COAD-US 14 71209191 71209191 single base substitution G A missense_variant R482W 1444C>T COAD-US 14 71227755 71227755 single base substitution C T missense_variant R16Q 47G>A COAD-US 14 71227755 71227755 single base substitution C T missense_variant R322Q 965G>A COAD-US 14 71227755 71227755 single base substitution C T missense_variant R59Q 176G>A COAD-US 14 71267734 71267734 single base substitution T A missense_variant K157M 470A>T COAD-US 14 71275641 71275641 single base substitution G A missense_variant S83F 248C>T COCA-CN 14 71197064 71197064 single base substitution C A 3_prime_UTR_variant COCA-CN 14 71197235 71197235 single base substitution C T synonymous_variant P1036P 3108G>A COCA-CN 14 71197235 71197235 single base substitution C T synonymous_variant P1059P 3177G>A COCA-CN 14 71197235 71197235 single base substitution C T synonymous_variant P1073P 3219G>A COCA-CN 14 71197235 71197235 single base substitution C T synonymous_variant P787P 2361G>A COCA-CN 14 71197235 71197235 single base substitution C T synonymous_variant P792P 2376G>A COCA-CN 14 71197431 71197431 single base substitution C T missense_variant R1008Q 3023G>A COCA-CN 14 71197431 71197431 single base substitution C T missense_variant R722Q 2165G>A COCA-CN 14 71197431 71197431 single base substitution C T missense_variant R727Q 2180G>A COCA-CN 14 71197431 71197431 single base substitution C T missense_variant R971Q 2912G>A COCA-CN 14 71197431 71197431 single base substitution C T missense_variant R994Q 2981G>A COCA-CN 14 71199796 71199796 single base substitution C A missense_variant G492C 1474G>T COCA-CN 14 71199796 71199796 single base substitution C A missense_variant G497C 1489G>T COCA-CN 14 71199796 71199796 single base substitution C A missense_variant G741C 2221G>T COCA-CN 14 71199796 71199796 single base substitution C A missense_variant G764C 2290G>T COCA-CN 14 71199796 71199796 single base substitution C A missense_variant G778C 2332G>T COCA-CN 14 71202763 71202763 single base substitution G T intron_variant COCA-CN 14 71206771 71206771 single base substitution G A stop_gained R254* 760C>T COCA-CN 14 71206771 71206771 single base substitution G A stop_gained R297* 889C>T COCA-CN 14 71206771 71206771 single base substitution G A stop_gained R560* 1678C>T COCA-CN 14 71216706 71216706 single base substitution T G exon_variant COCA-CN 14 71216706 71216706 single base substitution T G missense_variant K102T 305A>C COCA-CN 14 71216706 71216706 single base substitution T G missense_variant K365T 1094A>C COCA-CN 14 71216706 71216706 single base substitution T G missense_variant K59T 176A>C COCA-CN 14 71227760 71227760 single base substitution G T synonymous_variant V14V 42C>A COCA-CN 14 71227760 71227760 single base substitution G T synonymous_variant V320V 960C>A COCA-CN 14 71227760 71227760 single base substitution G T synonymous_variant V57V 171C>A COCA-CN 14 71267790 71267790 single base substitution T A missense_variant E138D 414A>T COCA-CN 14 71267849 71267849 single base substitution G A intron_variant ESAD-UK 14 71186934 71186934 single base substitution C T downstream_gene_variant ESAD-UK 14 71187395 71187395 single base substitution G C downstream_gene_variant ESAD-UK 14 71188979 71188979 single base substitution G A downstream_gene_variant ESAD-UK 14 71190873 71190873 single base substitution G T 3_prime_UTR_variant ESAD-UK 14 71191939 71191939 single base substitution G C 3_prime_UTR_variant ESAD-UK 14 71191939 71191939 single base substitution G C downstream_gene_variant ESAD-UK 14 71193867 71193867 single base substitution A C 3_prime_UTR_variant ESAD-UK 14 71193867 71193867 single base substitution A C downstream_gene_variant ESAD-UK 14 71195440 71195440 single base substitution C G 3_prime_UTR_variant ESAD-UK 14 71195440 71195440 single base substitution C G downstream_gene_variant ESAD-UK 14 71197031 71197031 single base substitution G A 3_prime_UTR_variant ESAD-UK 14 71197172 71197172 single base substitution G A synonymous_variant T1057T 3171C>T ESAD-UK 14 71197172 71197172 single base substitution G A synonymous_variant T1080T 3240C>T ESAD-UK 14 71197172 71197172 single base substitution G A synonymous_variant T1094T 3282C>T ESAD-UK 14 71197172 71197172 single base substitution G A synonymous_variant T808T 2424C>T ESAD-UK 14 71197172 71197172 single base substitution G A synonymous_variant T813T 2439C>T ESAD-UK 14 71199164 71199164 single base substitution C A intron_variant ESAD-UK 14 71203626 71203626 single base substitution C G intron_variant ESAD-UK 14 71204108 71204108 single base substitution G A intron_variant ESAD-UK 14 71205587 71205587 single base substitution A C intron_variant ESAD-UK 14 71205697 71205697 single base substitution C T intron_variant ESAD-UK 14 71209090 71209090 single base substitution G A synonymous_variant G209G 627C>T ESAD-UK 14 71209090 71209090 single base substitution G A synonymous_variant G252G 756C>T ESAD-UK 14 71209090 71209090 single base substitution G A synonymous_variant G515G 1545C>T ESAD-UK 14 71213153 71213153 single base substitution C A downstream_gene_variant ESAD-UK 14 71213153 71213153 single base substitution C A intron_variant ESAD-UK 14 71215590 71215590 insertion of <=200bp - GTTTCCAG downstream_gene_variant ESAD-UK 14 71215590 71215590 insertion of <=200bp - GTTTCCAG frameshift_variant H122PGN? ESAD-UK 14 71215590 71215590 insertion of <=200bp - GTTTCCAG frameshift_variant H165PGN? ESAD-UK 14 71215590 71215590 insertion of <=200bp - GTTTCCAG frameshift_variant H428PGN? ESAD-UK 14 71218666 71218666 insertion of <=200bp - C intron_variant ESAD-UK 14 71219224 71219224 single base substitution G A intron_variant ESAD-UK 14 71224403 71224403 single base substitution G A intron_variant ESAD-UK 14 71224403 71224403 single base substitution G A upstream_gene_variant ESAD-UK 14 71226082 71226082 single base substitution C T intron_variant ESAD-UK 14 71228468 71228468 deletion of <=200bp T - intron_variant ESAD-UK 14 71230602 71230602 deletion of <=200bp A - intron_variant ESAD-UK 14 71231430 71231430 single base substitution T A intron_variant ESAD-UK 14 71231860 71231860 single base substitution A G intron_variant ESAD-UK 14 71232046 71232046 deletion of <=200bp A - intron_variant ESAD-UK 14 71232588 71232588 single base substitution G T intron_variant ESAD-UK 14 71233074 71233074 single base substitution G A intron_variant ESAD-UK 14 71233208 71233208 single base substitution G A intron_variant ESAD-UK 14 71234371 71234371 single base substitution G A intron_variant ESAD-UK 14 71235909 71235909 single base substitution C G intron_variant ESAD-UK 14 71237120 71237120 single base substitution C T intron_variant ESAD-UK 14 71240237 71240237 single base substitution G A intron_variant ESAD-UK 14 71241799 71241799 single base substitution C T intron_variant ESAD-UK 14 71242592 71242592 single base substitution G C intron_variant ESAD-UK 14 71243133 71243133 single base substitution G C intron_variant ESAD-UK 14 71243589 71243589 single base substitution C A intron_variant ESAD-UK 14 71244778 71244778 single base substitution T C intron_variant ESAD-UK 14 71247619 71247619 single base substitution C T intron_variant ESAD-UK 14 71247746 71247746 single base substitution C T intron_variant ESAD-UK 14 71250207 71250207 single base substitution T C intron_variant ESAD-UK 14 71250207 71250207 single base substitution T C upstream_gene_variant ESAD-UK 14 71253771 71253771 single base substitution G A intron_variant ESAD-UK 14 71253771 71253771 single base substitution G A upstream_gene_variant ESAD-UK 14 71253773 71253773 single base substitution A G intron_variant ESAD-UK 14 71253773 71253773 single base substitution A G upstream_gene_variant ESAD-UK 14 71253923 71253923 single base substitution T A intron_variant ESAD-UK 14 71253923 71253923 single base substitution T A upstream_gene_variant ESAD-UK 14 71260269 71260269 insertion of <=200bp - TAAC intron_variant ESAD-UK 14 71262419 71262419 single base substitution C T intron_variant ESAD-UK 14 71263284 71263284 single base substitution C A intron_variant ESAD-UK 14 71264614 71264614 single base substitution T C intron_variant ESAD-UK 14 71273937 71273937 single base substitution G A intron_variant ESAD-UK 14 71274106 71274106 single base substitution C T intron_variant ESAD-UK 14 71275157 71275157 insertion of <=200bp - G intron_variant ESAD-UK 14 71276087 71276087 single base substitution C T 5_prime_UTR_variant ESAD-UK 14 71276087 71276087 single base substitution C T upstream_gene_variant ESAD-UK 14 71276664 71276664 single base substitution T C upstream_gene_variant ESAD-UK 14 71276706 71276706 single base substitution C T upstream_gene_variant ESAD-UK 14 71279360 71279360 single base substitution G A upstream_gene_variant GBM-US 14 71205013 71205013 single base substitution G A missense_variant T335M 1004C>T GBM-US 14 71205013 71205013 single base substitution G A missense_variant T340M 1019C>T GBM-US 14 71205013 71205013 single base substitution G A missense_variant T598M 1793C>T GBM-US 14 71216774 71216774 single base substitution C A exon_variant GBM-US 14 71216774 71216774 single base substitution C A missense_variant L342F 1026G>T GBM-US 14 71216774 71216774 single base substitution C A missense_variant L36F 108G>T GBM-US 14 71216774 71216774 single base substitution C A missense_variant L79F 237G>T KIRC-US 14 71267589 71267589 single base substitution G A synonymous_variant A205A 615C>T KIRP-US 14 71199898 71199898 single base substitution T G missense_variant T458P 1372A>C KIRP-US 14 71199898 71199898 single base substitution T G missense_variant T463P 1387A>C KIRP-US 14 71199898 71199898 single base substitution T G missense_variant T707P 2119A>C KIRP-US 14 71199898 71199898 single base substitution T G missense_variant T730P 2188A>C KIRP-US 14 71199898 71199898 single base substitution T G missense_variant T744P 2230A>C KIRP-US 14 71275774 71275776 deletion of <=200bp CCT - disruptive_inframe_deletion EA38A LAML-KR 14 71209025 71209025 single base substitution C A intron_variant LAML-KR 14 71215729 71215729 single base substitution G A downstream_gene_variant LAML-KR 14 71215729 71215729 single base substitution G A splice_region_variant LAML-KR 14 71241147 71241147 single base substitution T C intron_variant LGG-US 14 71275774 71275776 deletion of <=200bp CCT - disruptive_inframe_deletion EA38A LICA-CN 14 71267691 71267691 single base substitution T C synonymous_variant K171K 513A>G LICA-FR 14 71191228 71191228 single base substitution T A 3_prime_UTR_variant LICA-FR 14 71197099 71197099 single base substitution A G stop_lost *1082Q 3244T>C LICA-FR 14 71197099 71197099 single base substitution A G stop_lost *1105Q 3313T>C LICA-FR 14 71197099 71197099 single base substitution A G stop_lost *1119Q 3355T>C LICA-FR 14 71197099 71197099 single base substitution A G stop_lost *833Q 2497T>C LICA-FR 14 71197099 71197099 single base substitution A G stop_lost *838Q 2512T>C LICA-FR 14 71197108 71197108 single base substitution A C missense_variant F1079V 3235T>G LICA-FR 14 71197108 71197108 single base substitution A C missense_variant F1102V 3304T>G LICA-FR 14 71197108 71197108 single base substitution A C missense_variant F1116V 3346T>G LICA-FR 14 71197108 71197108 single base substitution A C missense_variant F830V 2488T>G LICA-FR 14 71197108 71197108 single base substitution A C missense_variant F835V 2503T>G LICA-FR 14 71236466 71236466 single base substitution T C intron_variant LICA-FR 14 71267581 71267581 single base substitution C T missense_variant G208E 623G>A LICA-FR 14 71270754 71270754 single base substitution G A intron_variant LICA-FR 14 71280888 71280888 insertion of <=200bp - A upstream_gene_variant LIHC-US 14 71206814 71206814 single base substitution G C missense_variant S239R 717C>G LIHC-US 14 71206814 71206814 single base substitution G C missense_variant S282R 846C>G LIHC-US 14 71206814 71206814 single base substitution G C missense_variant S545R 1635C>G LIHC-US 14 71215655 71215655 single base substitution A G downstream_gene_variant LIHC-US 14 71215655 71215655 single base substitution A G missense_variant I100T 299T>C LIHC-US 14 71215655 71215655 single base substitution A G missense_variant I143T 428T>C LIHC-US 14 71215655 71215655 single base substitution A G missense_variant I406T 1217T>C LINC-JP 14 71189414 71189415 deletion of <=200bp GG - 3_prime_UTR_variant LINC-JP 14 71199310 71199310 single base substitution G T missense_variant L654I 1960C>A LINC-JP 14 71199310 71199310 single base substitution G T missense_variant L659I 1975C>A LINC-JP 14 71199310 71199310 single base substitution G T missense_variant L903I 2707C>A LINC-JP 14 71199310 71199310 single base substitution G T missense_variant L926I 2776C>A LINC-JP 14 71199310 71199310 single base substitution G T missense_variant L940I 2818C>A LINC-JP 14 71200366 71200366 single base substitution T G intron_variant LINC-JP 14 71210008 71210008 deletion of <=200bp T - intron_variant LINC-JP 14 71263168 71263168 single base substitution C T intron_variant LINC-JP 14 71267508 71267508 single base substitution T C synonymous_variant L232L 696A>G LINC-JP 14 71275432 71275432 single base substitution C T intron_variant LINC-JP 14 71275687 71275687 single base substitution C G missense_variant E68Q 202G>C LIRI-JP 14 71186985 71186985 single base substitution G A downstream_gene_variant LIRI-JP 14 71190433 71190433 single base substitution T C 3_prime_UTR_variant LIRI-JP 14 71193161 71193161 single base substitution A T 3_prime_UTR_variant LIRI-JP 14 71193161 71193161 single base substitution A T downstream_gene_variant LIRI-JP 14 71194213 71194213 single base substitution G T 3_prime_UTR_variant LIRI-JP 14 71194213 71194213 single base substitution G T downstream_gene_variant LIRI-JP 14 71194942 71194942 single base substitution G A 3_prime_UTR_variant LIRI-JP 14 71194942 71194942 single base substitution G A downstream_gene_variant LIRI-JP 14 71195335 71195335 single base substitution G A 3_prime_UTR_variant LIRI-JP 14 71195335 71195335 single base substitution G A downstream_gene_variant LIRI-JP 14 71198831 71198831 single base substitution A G intron_variant LIRI-JP 14 71201257 71201257 single base substitution T A intron_variant LIRI-JP 14 71203732 71203732 deletion of <=200bp G - intron_variant LIRI-JP 14 71208991 71208991 deletion of <=200bp C - intron_variant LIRI-JP 14 71213842 71213842 single base substitution G C downstream_gene_variant LIRI-JP 14 71213842 71213842 single base substitution G C intron_variant LIRI-JP 14 71213978 71213978 single base substitution T C downstream_gene_variant LIRI-JP 14 71213978 71213978 single base substitution T C intron_variant LIRI-JP 14 71216237 71216237 single base substitution T C downstream_gene_variant LIRI-JP 14 71216237 71216237 single base substitution T C intron_variant LIRI-JP 14 71217929 71217929 single base substitution T C intron_variant LIRI-JP 14 71220383 71220383 single base substitution T G intron_variant LIRI-JP 14 71220383 71220383 single base substitution T G upstream_gene_variant LIRI-JP 14 71221227 71221227 single base substitution C T intron_variant LIRI-JP 14 71221227 71221227 single base substitution C T upstream_gene_variant LIRI-JP 14 71222617 71222617 single base substitution G T intron_variant LIRI-JP 14 71222617 71222617 single base substitution G T upstream_gene_variant LIRI-JP 14 71224468 71224468 single base substitution T C intron_variant LIRI-JP 14 71224468 71224468 single base substitution T C upstream_gene_variant LIRI-JP 14 71225036 71225036 single base substitution T C intron_variant LIRI-JP 14 71225915 71225915 single base substitution A T intron_variant LIRI-JP 14 71228523 71228523 single base substitution T C intron_variant LIRI-JP 14 71228959 71228959 single base substitution G C intron_variant LIRI-JP 14 71229703 71229703 single base substitution G C intron_variant LIRI-JP 14 71234455 71234455 single base substitution G T intron_variant LIRI-JP 14 71234870 71234870 single base substitution T C intron_variant LIRI-JP 14 71235732 71235732 single base substitution A G intron_variant LIRI-JP 14 71239513 71239513 single base substitution T C intron_variant LIRI-JP 14 71243389 71243389 single base substitution G A intron_variant LIRI-JP 14 71247117 71247117 single base substitution A T intron_variant LIRI-JP 14 71247200 71247200 single base substitution A C intron_variant LIRI-JP 14 71247516 71247516 single base substitution T C intron_variant LIRI-JP 14 71249301 71249301 single base substitution A G intron_variant LIRI-JP 14 71251618 71251618 single base substitution C T intron_variant LIRI-JP 14 71251618 71251618 single base substitution C T upstream_gene_variant LIRI-JP 14 71252529 71252529 single base substitution C T intron_variant LIRI-JP 14 71252529 71252529 single base substitution C T upstream_gene_variant LIRI-JP 14 71252715 71252715 single base substitution G A intron_variant LIRI-JP 14 71252715 71252715 single base substitution G A upstream_gene_variant LIRI-JP 14 71253256 71253256 single base substitution C T intron_variant LIRI-JP 14 71253256 71253256 single base substitution C T upstream_gene_variant LIRI-JP 14 71253397 71253397 single base substitution C T intron_variant LIRI-JP 14 71253397 71253397 single base substitution C T upstream_gene_variant LIRI-JP 14 71262692 71262692 single base substitution G A intron_variant LIRI-JP 14 71264085 71264085 single base substitution T A intron_variant LIRI-JP 14 71264158 71264158 single base substitution A T intron_variant LIRI-JP 14 71264819 71264819 single base substitution A C intron_variant LIRI-JP 14 71265760 71265760 single base substitution G A intron_variant LIRI-JP 14 71266328 71266328 single base substitution T G intron_variant LIRI-JP 14 71271067 71271067 single base substitution G A intron_variant LIRI-JP 14 71271334 71271334 single base substitution C T intron_variant LIRI-JP 14 71274185 71274185 single base substitution A T intron_variant LIRI-JP 14 71279436 71279440 deletion of <=200bp AAAAG - upstream_gene_variant LIRI-JP 14 71279958 71279958 single base substitution A C upstream_gene_variant LIRI-JP 14 71280631 71280631 single base substitution G T upstream_gene_variant LUSC-KR 14 71188901 71188901 single base substitution G A downstream_gene_variant LUSC-KR 14 71193331 71193331 single base substitution C G 3_prime_UTR_variant LUSC-KR 14 71193331 71193331 single base substitution C G downstream_gene_variant LUSC-KR 14 71195130 71195130 single base substitution C T 3_prime_UTR_variant LUSC-KR 14 71195130 71195130 single base substitution C T downstream_gene_variant LUSC-KR 14 71196427 71196427 single base substitution C T 3_prime_UTR_variant LUSC-KR 14 71196427 71196427 single base substitution C T downstream_gene_variant LUSC-KR 14 71199452 71199452 single base substitution G A synonymous_variant N606N 1818C>T LUSC-KR 14 71199452 71199452 single base substitution G A synonymous_variant N611N 1833C>T LUSC-KR 14 71199452 71199452 single base substitution G A synonymous_variant N855N 2565C>T LUSC-KR 14 71199452 71199452 single base substitution G A synonymous_variant N878N 2634C>T LUSC-KR 14 71199452 71199452 single base substitution G A synonymous_variant N892N 2676C>T LUSC-KR 14 71201881 71201881 single base substitution C A intron_variant LUSC-KR 14 71204531 71204531 single base substitution G C intron_variant LUSC-KR 14 71206523 71206523 single base substitution A G intron_variant LUSC-KR 14 71211731 71211731 single base substitution T C downstream_gene_variant LUSC-KR 14 71211731 71211731 single base substitution T C intron_variant LUSC-KR 14 71235734 71235734 single base substitution G T intron_variant LUSC-KR 14 71246521 71246521 single base substitution G A intron_variant LUSC-KR 14 71254316 71254316 single base substitution A G intron_variant LUSC-KR 14 71254316 71254316 single base substitution A G upstream_gene_variant LUSC-KR 14 71255294 71255294 single base substitution T C intron_variant LUSC-KR 14 71265600 71265600 single base substitution C T intron_variant LUSC-KR 14 71267211 71267211 single base substitution C A intron_variant LUSC-KR 14 71271670 71271670 single base substitution C G intron_variant LUSC-KR 14 71274324 71274324 single base substitution T G intron_variant LUSC-KR 14 71279147 71279147 single base substitution C T upstream_gene_variant LUSC-US 14 71197217 71197217 single base substitution C T synonymous_variant R1042R 3126G>A LUSC-US 14 71197217 71197217 single base substitution C T synonymous_variant R1065R 3195G>A LUSC-US 14 71197217 71197217 single base substitution C T synonymous_variant R1079R 3237G>A LUSC-US 14 71197217 71197217 single base substitution C T synonymous_variant R793R 2379G>A LUSC-US 14 71197217 71197217 single base substitution C T synonymous_variant R798R 2394G>A LUSC-US 14 71199923 71199923 single base substitution G T synonymous_variant P449P 1347C>A LUSC-US 14 71199923 71199923 single base substitution G T synonymous_variant P454P 1362C>A LUSC-US 14 71199923 71199923 single base substitution G T synonymous_variant P698P 2094C>A LUSC-US 14 71199923 71199923 single base substitution G T synonymous_variant P721P 2163C>A LUSC-US 14 71199923 71199923 single base substitution G T synonymous_variant P735P 2205C>A LUSC-US 14 71209074 71209074 single base substitution G A missense_variant P215S 643C>T LUSC-US 14 71209074 71209074 single base substitution G A missense_variant P258S 772C>T LUSC-US 14 71209074 71209074 single base substitution G A missense_variant P521S 1561C>T LUSC-US 14 71215569 71215569 single base substitution C A downstream_gene_variant LUSC-US 14 71215569 71215569 single base substitution C A missense_variant D129Y 385G>T LUSC-US 14 71215569 71215569 single base substitution C A missense_variant D172Y 514G>T LUSC-US 14 71215569 71215569 single base substitution C A missense_variant D435Y 1303G>T LUSC-US 14 71227771 71227771 single base substitution C T missense_variant A11T 31G>A LUSC-US 14 71227771 71227771 single base substitution C T missense_variant A317T 949G>A LUSC-US 14 71227771 71227771 single base substitution C T missense_variant A54T 160G>A LUSC-US 14 71275774 71275776 deletion of <=200bp CCT - disruptive_inframe_deletion EA38A MALY-DE 14 71186051 71186051 single base substitution A C downstream_gene_variant MALY-DE 14 71197432 71197432 single base substitution G A missense_variant R1008W 3022C>T MALY-DE 14 71197432 71197432 single base substitution G A missense_variant R722W 2164C>T MALY-DE 14 71197432 71197432 single base substitution G A missense_variant R727W 2179C>T MALY-DE 14 71197432 71197432 single base substitution G A missense_variant R971W 2911C>T MALY-DE 14 71197432 71197432 single base substitution G A missense_variant R994W 2980C>T MALY-DE 14 71210240 71210244 deletion of <=200bp ACCCC - intron_variant MALY-DE 14 71212549 71212549 single base substitution T A downstream_gene_variant MALY-DE 14 71212549 71212549 single base substitution T A intron_variant MALY-DE 14 71215073 71215073 single base substitution T G downstream_gene_variant MALY-DE 14 71215073 71215073 single base substitution T G intron_variant MALY-DE 14 71229185 71229185 single base substitution T G intron_variant MALY-DE 14 71239384 71239384 insertion of <=200bp - A intron_variant MALY-DE 14 71242783 71242783 single base substitution G A intron_variant MALY-DE 14 71242861 71242861 single base substitution G A intron_variant MALY-DE 14 71244543 71244543 single base substitution A C intron_variant MALY-DE 14 71244792 71244792 single base substitution G A intron_variant MALY-DE 14 71246375 71246375 single base substitution A G intron_variant MALY-DE 14 71256801 71256801 single base substitution G T intron_variant MALY-DE 14 71258699 71258699 single base substitution C T intron_variant MALY-DE 14 71260943 71260943 single base substitution A T intron_variant MALY-DE 14 71263869 71263869 single base substitution G C intron_variant MALY-DE 14 71264736 71264736 single base substitution C G intron_variant MALY-DE 14 71265624 71265624 single base substitution A G intron_variant MALY-DE 14 71268385 71268385 single base substitution C A intron_variant MALY-DE 14 71275214 71275214 single base substitution A G intron_variant MALY-DE 14 71275774 71275776 deletion of <=200bp CCT - disruptive_inframe_deletion EA38A MALY-DE 14 71280355 71280355 single base substitution A T upstream_gene_variant MALY-DE 14 71280359 71280359 single base substitution T C upstream_gene_variant MELA-AU 14 71184461 71184461 single base substitution C T downstream_gene_variant MELA-AU 14 71184504 71184504 single base substitution C T downstream_gene_variant MELA-AU 14 71184518 71184518 single base substitution C T downstream_gene_variant MELA-AU 14 71184630 71184630 single base substitution G A downstream_gene_variant MELA-AU 14 71184995 71184995 single base substitution C T downstream_gene_variant MELA-AU 14 71185138 71185138 single base substitution C T downstream_gene_variant MELA-AU 14 71185195 71185195 single base substitution G A downstream_gene_variant MELA-AU 14 71185209 71185209 single base substitution G A downstream_gene_variant MELA-AU 14 71185349 71185349 single base substitution A T downstream_gene_variant MELA-AU 14 71185410 71185410 single base substitution C T downstream_gene_variant MELA-AU 14 71185513 71185513 single base substitution C A downstream_gene_variant MELA-AU 14 71185543 71185543 single base substitution C T downstream_gene_variant MELA-AU 14 71185572 71185572 single base substitution G A downstream_gene_variant MELA-AU 14 71185908 71185908 single base substitution G A downstream_gene_variant MELA-AU 14 71185948 71185948 single base substitution G A downstream_gene_variant MELA-AU 14 71186020 71186020 single base substitution G A downstream_gene_variant MELA-AU 14 71186252 71186252 single base substitution G A downstream_gene_variant MELA-AU 14 71186499 71186499 single base substitution A T downstream_gene_variant MELA-AU 14 71187029 71187029 single base substitution C T downstream_gene_variant MELA-AU 14 71187452 71187452 single base substitution G A downstream_gene_variant MELA-AU 14 71187453 71187453 single base substitution G A downstream_gene_variant MELA-AU 14 71187659 71187659 single base substitution C T downstream_gene_variant MELA-AU 14 71187666 71187667 multiple base substitution (>=2bp and <=200bp) GG AA downstream_gene_variant MELA-AU 14 71187702 71187702 single base substitution G A downstream_gene_variant MELA-AU 14 71187838 71187839 multiple base substitution (>=2bp and <=200bp) GG CA downstream_gene_variant MELA-AU 14 71187969 71187969 single base substitution C T downstream_gene_variant MELA-AU 14 71188122 71188122 single base substitution C T downstream_gene_variant MELA-AU 14 71188304 71188304 single base substitution C T downstream_gene_variant MELA-AU 14 71188374 71188374 single base substitution G A downstream_gene_variant MELA-AU 14 71188377 71188377 single base substitution C T downstream_gene_variant MELA-AU 14 71188578 71188578 single base substitution G A downstream_gene_variant MELA-AU 14 71188626 71188626 single base substitution C T downstream_gene_variant MELA-AU 14 71188695 71188695 single base substitution C T downstream_gene_variant MELA-AU 14 71188829 71188829 single base substitution G A downstream_gene_variant MELA-AU 14 71188840 71188840 single base substitution G A downstream_gene_variant MELA-AU 14 71189007 71189007 single base substitution C T downstream_gene_variant MELA-AU 14 71189103 71189103 single base substitution C T downstream_gene_variant MELA-AU 14 71189449 71189449 single base substitution C T 3_prime_UTR_variant MELA-AU 14 71189652 71189652 single base substitution G A 3_prime_UTR_variant MELA-AU 14 71189749 71189749 single base substitution G T 3_prime_UTR_variant MELA-AU 14 71189777 71189777 single base substitution G A 3_prime_UTR_variant MELA-AU 14 71189794 71189794 single base substitution G A 3_prime_UTR_variant MELA-AU 14 71189854 71189854 single base substitution C T 3_prime_UTR_variant MELA-AU 14 71190101 71190101 single base substitution G A 3_prime_UTR_variant MELA-AU 14 71190104 71190104 single base substitution A T 3_prime_UTR_variant MELA-AU 14 71190192 71190192 single base substitution G T 3_prime_UTR_variant MELA-AU 14 71190255 71190255 single base substitution G A 3_prime_UTR_variant MELA-AU 14 71190287 71190287 single base substitution G A 3_prime_UTR_variant MELA-AU 14 71190504 71190504 single base substitution G A 3_prime_UTR_variant MELA-AU 14 71190723 71190723 single base substitution A G 3_prime_UTR_variant MELA-AU 14 71190761 71190761 single base substitution C T 3_prime_UTR_variant MELA-AU 14 71190821 71190821 single base substitution G A 3_prime_UTR_variant MELA-AU 14 71190835 71190835 single base substitution A C 3_prime_UTR_variant MELA-AU 14 71190971 71190971 single base substitution G A 3_prime_UTR_variant MELA-AU 14 71191431 71191431 single base substitution C T 3_prime_UTR_variant MELA-AU 14 71191431 71191431 single base substitution C T downstream_gene_variant MELA-AU 14 71191498 71191498 single base substitution C T 3_prime_UTR_variant MELA-AU 14 71191498 71191498 single base substitution C T downstream_gene_variant MELA-AU 14 71191802 71191802 single base substitution G A 3_prime_UTR_variant MELA-AU 14 71191802 71191802 single base substitution G A downstream_gene_variant MELA-AU 14 71191886 71191886 single base substitution G A 3_prime_UTR_variant MELA-AU 14 71191886 71191886 single base substitution G A downstream_gene_variant MELA-AU 14 71192346 71192346 single base substitution C T 3_prime_UTR_variant MELA-AU 14 71192346 71192346 single base substitution C T downstream_gene_variant MELA-AU 14 71192608 71192608 single base substitution T A 3_prime_UTR_variant MELA-AU 14 71192608 71192608 single base substitution T A downstream_gene_variant MELA-AU 14 71192781 71192781 single base substitution C T 3_prime_UTR_variant MELA-AU 14 71192781 71192781 single base substitution C T downstream_gene_variant MELA-AU 14 71192987 71192987 single base substitution T G 3_prime_UTR_variant MELA-AU 14 71192987 71192987 single base substitution T G downstream_gene_variant MELA-AU 14 71193099 71193099 single base substitution C T 3_prime_UTR_variant MELA-AU 14 71193099 71193099 single base substitution C T downstream_gene_variant MELA-AU 14 71193211 71193211 single base substitution T G 3_prime_UTR_variant MELA-AU 14 71193211 71193211 single base substitution T G downstream_gene_variant MELA-AU 14 71193424 71193424 single base substitution C T 3_prime_UTR_variant MELA-AU 14 71193424 71193424 single base substitution C T downstream_gene_variant MELA-AU 14 71193507 71193507 single base substitution C T 3_prime_UTR_variant MELA-AU 14 71193507 71193507 single base substitution C T downstream_gene_variant MELA-AU 14 71193626 71193626 single base substitution A T 3_prime_UTR_variant MELA-AU 14 71193626 71193626 single base substitution A T downstream_gene_variant MELA-AU 14 71193640 71193640 single base substitution G A 3_prime_UTR_variant MELA-AU 14 71193640 71193640 single base substitution G A downstream_gene_variant MELA-AU 14 71193655 71193655 single base substitution G A 3_prime_UTR_variant MELA-AU 14 71193655 71193655 single base substitution G A downstream_gene_variant MELA-AU 14 71193806 71193806 single base substitution A C 3_prime_UTR_variant MELA-AU 14 71193806 71193806 single base substitution A C downstream_gene_variant MELA-AU 14 71193809 71193809 single base substitution A T 3_prime_UTR_variant MELA-AU 14 71193809 71193809 single base substitution A T downstream_gene_variant MELA-AU 14 71193811 71193811 single base substitution C T 3_prime_UTR_variant MELA-AU 14 71193811 71193811 single base substitution C T downstream_gene_variant MELA-AU 14 71193832 71193832 single base substitution G A 3_prime_UTR_variant MELA-AU 14 71193832 71193832 single base substitution G A downstream_gene_variant MELA-AU 14 71194120 71194120 single base substitution C T 3_prime_UTR_variant MELA-AU 14 71194120 71194120 single base substitution C T downstream_gene_variant MELA-AU 14 71194140 71194140 single base substitution C T 3_prime_UTR_variant MELA-AU 14 71194140 71194140 single base substitution C T downstream_gene_variant MELA-AU 14 71194143 71194143 single base substitution G A 3_prime_UTR_variant MELA-AU 14 71194143 71194143 single base substitution G A downstream_gene_variant MELA-AU 14 71194293 71194293 single base substitution G A 3_prime_UTR_variant MELA-AU 14 71194293 71194293 single base substitution G A downstream_gene_variant MELA-AU 14 71194382 71194382 single base substitution G A 3_prime_UTR_variant MELA-AU 14 71194382 71194382 single base substitution G A downstream_gene_variant MELA-AU 14 71194460 71194461 multiple base substitution (>=2bp and <=200bp) GG AA 3_prime_UTR_variant MELA-AU 14 71194460 71194461 multiple base substitution (>=2bp and <=200bp) GG AA downstream_gene_variant MELA-AU 14 71194512 71194512 single base substitution C T 3_prime_UTR_variant MELA-AU 14 71194512 71194512 single base substitution C T downstream_gene_variant MELA-AU 14 71194580 71194580 single base substitution G A 3_prime_UTR_variant MELA-AU 14 71194580 71194580 single base substitution G A downstream_gene_variant MELA-AU 14 71194674 71194674 single base substitution G A 3_prime_UTR_variant MELA-AU 14 71194674 71194674 single base substitution G A downstream_gene_variant MELA-AU 14 71194953 71194953 single base substitution C T 3_prime_UTR_variant MELA-AU 14 71194953 71194953 single base substitution C T downstream_gene_variant MELA-AU 14 71195032 71195032 single base substitution G A 3_prime_UTR_variant MELA-AU 14 71195032 71195032 single base substitution G A downstream_gene_variant MELA-AU 14 71195215 71195215 single base substitution G A 3_prime_UTR_variant MELA-AU 14 71195215 71195215 single base substitution G A downstream_gene_variant MELA-AU 14 71195242 71195242 single base substitution G A 3_prime_UTR_variant MELA-AU 14 71195242 71195242 single base substitution G A downstream_gene_variant MELA-AU 14 71195530 71195530 single base substitution G A 3_prime_UTR_variant MELA-AU 14 71195530 71195530 single base substitution G A downstream_gene_variant MELA-AU 14 71195591 71195591 single base substitution G A 3_prime_UTR_variant MELA-AU 14 71195591 71195591 single base substitution G A downstream_gene_variant MELA-AU 14 71195693 71195693 single base substitution G A 3_prime_UTR_variant MELA-AU 14 71195693 71195693 single base substitution G A downstream_gene_variant MELA-AU 14 71195723 71195723 single base substitution G A 3_prime_UTR_variant MELA-AU 14 71195723 71195723 single base substitution G A downstream_gene_variant MELA-AU 14 71195759 71195759 single base substitution G A 3_prime_UTR_variant MELA-AU 14 71195759 71195759 single base substitution G A downstream_gene_variant MELA-AU 14 71195885 71195885 single base substitution C T 3_prime_UTR_variant MELA-AU 14 71195885 71195885 single base substitution C T downstream_gene_variant MELA-AU 14 71195996 71195996 single base substitution G A 3_prime_UTR_variant MELA-AU 14 71195996 71195996 single base substitution G A downstream_gene_variant MELA-AU 14 71196071 71196071 single base substitution G T 3_prime_UTR_variant MELA-AU 14 71196071 71196071 single base substitution G T downstream_gene_variant MELA-AU 14 71196141 71196141 single base substitution G A 3_prime_UTR_variant MELA-AU 14 71196141 71196141 single base substitution G A downstream_gene_variant MELA-AU 14 71196232 71196232 single base substitution G A 3_prime_UTR_variant MELA-AU 14 71196232 71196232 single base substitution G A downstream_gene_variant MELA-AU 14 71196249 71196249 single base substitution G A 3_prime_UTR_variant MELA-AU 14 71196249 71196249 single base substitution G A downstream_gene_variant MELA-AU 14 71196373 71196373 single base substitution C T 3_prime_UTR_variant MELA-AU 14 71196373 71196373 single base substitution C T downstream_gene_variant MELA-AU 14 71196909 71196909 single base substitution G A 3_prime_UTR_variant MELA-AU 14 71196924 71196924 single base substitution G A 3_prime_UTR_variant MELA-AU 14 71197354 71197354 single base substitution G A missense_variant P1020S 3058C>T MELA-AU 14 71197354 71197354 single base substitution G A missense_variant P1034S 3100C>T MELA-AU 14 71197354 71197354 single base substitution G A missense_variant P748S 2242C>T MELA-AU 14 71197354 71197354 single base substitution G A missense_variant P753S 2257C>T MELA-AU 14 71197354 71197354 single base substitution G A missense_variant P997S 2989C>T MELA-AU 14 71197495 71197495 single base substitution T A missense_variant R701W 2101A>T MELA-AU 14 71197495 71197495 single base substitution T A missense_variant R706W 2116A>T MELA-AU 14 71197495 71197495 single base substitution T A missense_variant R950W 2848A>T MELA-AU 14 71197495 71197495 single base substitution T A missense_variant R973W 2917A>T MELA-AU 14 71197495 71197495 single base substitution T A missense_variant R987W 2959A>T MELA-AU 14 71197567 71197567 single base substitution G A missense_variant P677S 2029C>T MELA-AU 14 71197567 71197567 single base substitution G A missense_variant P682S 2044C>T MELA-AU 14 71197567 71197567 single base substitution G A missense_variant P926S 2776C>T MELA-AU 14 71197567 71197567 single base substitution G A missense_variant P949S 2845C>T MELA-AU 14 71197567 71197567 single base substitution G A missense_variant P963S 2887C>T MELA-AU 14 71197593 71197593 single base substitution G A intron_variant MELA-AU 14 71197658 71197658 single base substitution A G intron_variant MELA-AU 14 71197939 71197939 single base substitution G A intron_variant MELA-AU 14 71198093 71198093 single base substitution G A intron_variant MELA-AU 14 71198618 71198618 single base substitution G A intron_variant MELA-AU 14 71198674 71198674 single base substitution G A intron_variant MELA-AU 14 71198909 71198909 single base substitution G A intron_variant MELA-AU 14 71198936 71198937 multiple base substitution (>=2bp and <=200bp) CC AT intron_variant MELA-AU 14 71198996 71198996 single base substitution G A intron_variant MELA-AU 14 71199038 71199038 single base substitution C T intron_variant MELA-AU 14 71199053 71199053 single base substitution G A intron_variant MELA-AU 14 71199402 71199402 single base substitution G A missense_variant S623F 1868C>T MELA-AU 14 71199402 71199402 single base substitution G A missense_variant S628F 1883C>T MELA-AU 14 71199402 71199402 single base substitution G A missense_variant S872F 2615C>T MELA-AU 14 71199402 71199402 single base substitution G A missense_variant S895F 2684C>T MELA-AU 14 71199402 71199402 single base substitution G A missense_variant S909F 2726C>T MELA-AU 14 71199436 71199436 single base substitution G A stop_gained R612* 1834C>T MELA-AU 14 71199436 71199436 single base substitution G A stop_gained R617* 1849C>T MELA-AU 14 71199436 71199436 single base substitution G A stop_gained R861* 2581C>T MELA-AU 14 71199436 71199436 single base substitution G A stop_gained R884* 2650C>T MELA-AU 14 71199436 71199436 single base substitution G A stop_gained R898* 2692C>T MELA-AU 14 71199482 71199482 single base substitution C T synonymous_variant E596E 1788G>A MELA-AU 14 71199482 71199482 single base substitution C T synonymous_variant E601E 1803G>A MELA-AU 14 71199482 71199482 single base substitution C T synonymous_variant E845E 2535G>A MELA-AU 14 71199482 71199482 single base substitution C T synonymous_variant E868E 2604G>A MELA-AU 14 71199482 71199482 single base substitution C T synonymous_variant E882E 2646G>A MELA-AU 14 71199520 71199520 single base substitution C T missense_variant E584K 1750G>A MELA-AU 14 71199520 71199520 single base substitution C T missense_variant E589K 1765G>A MELA-AU 14 71199520 71199520 single base substitution C T missense_variant E833K 2497G>A MELA-AU 14 71199520 71199520 single base substitution C T missense_variant E856K 2566G>A MELA-AU 14 71199520 71199520 single base substitution C T missense_variant E870K 2608G>A MELA-AU 14 71199522 71199522 single base substitution T C missense_variant D583G 1748A>G MELA-AU 14 71199522 71199522 single base substitution T C missense_variant D588G 1763A>G MELA-AU 14 71199522 71199522 single base substitution T C missense_variant D832G 2495A>G MELA-AU 14 71199522 71199522 single base substitution T C missense_variant D855G 2564A>G MELA-AU 14 71199522 71199522 single base substitution T C missense_variant D869G 2606A>G MELA-AU 14 71199855 71199855 single base substitution G A missense_variant A472V 1415C>T MELA-AU 14 71199855 71199855 single base substitution G A missense_variant A477V 1430C>T MELA-AU 14 71199855 71199855 single base substitution G A missense_variant A721V 2162C>T MELA-AU 14 71199855 71199855 single base substitution G A missense_variant A744V 2231C>T MELA-AU 14 71199855 71199855 single base substitution G A missense_variant A758V 2273C>T MELA-AU 14 71200083 71200083 single base substitution G A intron_variant MELA-AU 14 71200092 71200092 single base substitution G A intron_variant MELA-AU 14 71200255 71200255 single base substitution C T intron_variant MELA-AU 14 71200326 71200326 single base substitution G A intron_variant MELA-AU 14 71200327 71200327 single base substitution G A intron_variant MELA-AU 14 71200542 71200542 single base substitution G A intron_variant MELA-AU 14 71200592 71200592 single base substitution G A intron_variant MELA-AU 14 71200745 71200745 single base substitution G A intron_variant MELA-AU 14 71200996 71200996 single base substitution C T intron_variant MELA-AU 14 71201073 71201073 single base substitution G A intron_variant MELA-AU 14 71201081 71201081 single base substitution T A intron_variant MELA-AU 14 71201122 71201122 single base substitution G A synonymous_variant F383F 1149C>T MELA-AU 14 71201122 71201122 single base substitution G A synonymous_variant F388F 1164C>T MELA-AU 14 71201122 71201122 single base substitution G A synonymous_variant F646F 1938C>T MELA-AU 14 71201122 71201122 single base substitution G A synonymous_variant F669F 2007C>T MELA-AU 14 71201291 71201291 single base substitution G A intron_variant MELA-AU 14 71201500 71201500 single base substitution G A intron_variant MELA-AU 14 71201762 71201762 single base substitution C T intron_variant MELA-AU 14 71202027 71202027 single base substitution A C intron_variant MELA-AU 14 71202506 71202506 single base substitution G A intron_variant MELA-AU 14 71202620 71202620 single base substitution G A intron_variant MELA-AU 14 71202725 71202725 single base substitution T A intron_variant MELA-AU 14 71202725 71202725 single base substitution T A missense_variant K622N 1866A>T MELA-AU 14 71202743 71202743 single base substitution G A intron_variant MELA-AU 14 71202743 71202743 single base substitution G A synonymous_variant S616S 1848C>T MELA-AU 14 71202972 71202972 single base substitution G A intron_variant MELA-AU 14 71202984 71202984 single base substitution C T intron_variant MELA-AU 14 71203025 71203025 single base substitution G A intron_variant MELA-AU 14 71203094 71203094 single base substitution G A intron_variant MELA-AU 14 71203248 71203248 single base substitution G A intron_variant MELA-AU 14 71203635 71203635 single base substitution A T intron_variant MELA-AU 14 71203665 71203665 single base substitution G A intron_variant MELA-AU 14 71203687 71203687 single base substitution G A intron_variant MELA-AU 14 71203893 71203893 single base substitution C T intron_variant MELA-AU 14 71204059 71204059 single base substitution T C intron_variant MELA-AU 14 71204677 71204677 single base substitution G A intron_variant MELA-AU 14 71204894 71204894 single base substitution C T intron_variant MELA-AU 14 71205249 71205249 single base substitution C T intron_variant MELA-AU 14 71205466 71205466 single base substitution G A intron_variant MELA-AU 14 71205494 71205494 single base substitution G A intron_variant MELA-AU 14 71205574 71205574 single base substitution G A intron_variant MELA-AU 14 71205580 71205580 single base substitution G A intron_variant MELA-AU 14 71205581 71205581 single base substitution G A intron_variant MELA-AU 14 71205950 71205950 single base substitution G A intron_variant MELA-AU 14 71206156 71206156 single base substitution G A intron_variant MELA-AU 14 71206393 71206393 single base substitution G A intron_variant MELA-AU 14 71206437 71206437 single base substitution C G intron_variant MELA-AU 14 71206591 71206591 single base substitution G A intron_variant MELA-AU 14 71206850 71206850 single base substitution G A synonymous_variant S227S 681C>T MELA-AU 14 71206850 71206850 single base substitution G A synonymous_variant S270S 810C>T MELA-AU 14 71206850 71206850 single base substitution G A synonymous_variant S533S 1599C>T MELA-AU 14 71206877 71206877 single base substitution G A synonymous_variant F218F 654C>T MELA-AU 14 71206877 71206877 single base substitution G A synonymous_variant F261F 783C>T MELA-AU 14 71206877 71206877 single base substitution G A synonymous_variant F524F 1572C>T MELA-AU 14 71207051 71207051 single base substitution G A intron_variant MELA-AU 14 71207139 71207139 single base substitution G A intron_variant MELA-AU 14 71207251 71207251 single base substitution G A intron_variant MELA-AU 14 71207341 71207341 single base substitution C T intron_variant MELA-AU 14 71207366 71207366 single base substitution G A intron_variant MELA-AU 14 71207475 71207475 single base substitution C T intron_variant MELA-AU 14 71207618 71207618 single base substitution G A intron_variant MELA-AU 14 71207837 71207837 single base substitution C T intron_variant MELA-AU 14 71207996 71207997 multiple base substitution (>=2bp and <=200bp) GG AA intron_variant MELA-AU 14 71208662 71208662 single base substitution C T intron_variant MELA-AU 14 71208664 71208664 single base substitution C A intron_variant MELA-AU 14 71208713 71208713 single base substitution C T intron_variant MELA-AU 14 71208737 71208737 single base substitution G A intron_variant MELA-AU 14 71208763 71208763 single base substitution C T intron_variant MELA-AU 14 71208919 71208919 single base substitution C T intron_variant MELA-AU 14 71208968 71208968 single base substitution G A intron_variant MELA-AU 14 71209147 71209147 single base substitution G A synonymous_variant P190P 570C>T MELA-AU 14 71209147 71209147 single base substitution G A synonymous_variant P233P 699C>T MELA-AU 14 71209147 71209147 single base substitution G A synonymous_variant P496P 1488C>T MELA-AU 14 71209197 71209197 single base substitution G A synonymous_variant L174L 520C>T MELA-AU 14 71209197 71209197 single base substitution G A synonymous_variant L217L 649C>T MELA-AU 14 71209197 71209197 single base substitution G A synonymous_variant L480L 1438C>T MELA-AU 14 71209559 71209559 single base substitution G A intron_variant MELA-AU 14 71209628 71209628 single base substitution T A intron_variant MELA-AU 14 71210078 71210078 single base substitution G A intron_variant MELA-AU 14 71210153 71210153 single base substitution G A intron_variant MELA-AU 14 71210474 71210474 single base substitution G A intron_variant MELA-AU 14 71210520 71210520 single base substitution C T intron_variant MELA-AU 14 71210749 71210749 single base substitution G A intron_variant MELA-AU 14 71211513 71211513 single base substitution G A downstream_gene_variant MELA-AU 14 71211513 71211513 single base substitution G A intron_variant MELA-AU 14 71211646 71211646 single base substitution A G downstream_gene_variant MELA-AU 14 71211646 71211646 single base substitution A G intron_variant MELA-AU 14 71211747 71211747 single base substitution G A downstream_gene_variant MELA-AU 14 71211747 71211747 single base substitution G A intron_variant MELA-AU 14 71211760 71211760 single base substitution G A downstream_gene_variant MELA-AU 14 71211760 71211760 single base substitution G A intron_variant MELA-AU 14 71211840 71211840 single base substitution G A downstream_gene_variant MELA-AU 14 71211840 71211840 single base substitution G A intron_variant MELA-AU 14 71212202 71212202 single base substitution C T downstream_gene_variant MELA-AU 14 71212202 71212202 single base substitution C T intron_variant MELA-AU 14 71212374 71212374 single base substitution G A downstream_gene_variant MELA-AU 14 71212374 71212374 single base substitution G A intron_variant MELA-AU 14 71212682 71212682 single base substitution C T downstream_gene_variant MELA-AU 14 71212682 71212682 single base substitution C T intron_variant MELA-AU 14 71212773 71212773 single base substitution G A downstream_gene_variant MELA-AU 14 71212773 71212773 single base substitution G A intron_variant MELA-AU 14 71212976 71212976 single base substitution T A downstream_gene_variant MELA-AU 14 71212976 71212976 single base substitution T A intron_variant MELA-AU 14 71213094 71213094 single base substitution G C downstream_gene_variant MELA-AU 14 71213094 71213094 single base substitution G C intron_variant MELA-AU 14 71213266 71213267 multiple base substitution (>=2bp and <=200bp) GG AA downstream_gene_variant MELA-AU 14 71213266 71213267 multiple base substitution (>=2bp and <=200bp) GG AA intron_variant MELA-AU 14 71213961 71213961 single base substitution G A downstream_gene_variant MELA-AU 14 71213961 71213961 single base substitution G A intron_variant MELA-AU 14 71214003 71214003 single base substitution C T downstream_gene_variant MELA-AU 14 71214003 71214003 single base substitution C T intron_variant MELA-AU 14 71214065 71214065 single base substitution C A downstream_gene_variant MELA-AU 14 71214065 71214065 single base substitution C A intron_variant MELA-AU 14 71214112 71214112 single base substitution C T downstream_gene_variant MELA-AU 14 71214112 71214112 single base substitution C T intron_variant MELA-AU 14 71214211 71214211 single base substitution G A downstream_gene_variant MELA-AU 14 71214211 71214211 single base substitution G A intron_variant MELA-AU 14 71214274 71214274 single base substitution G A downstream_gene_variant MELA-AU 14 71214274 71214274 single base substitution G A intron_variant MELA-AU 14 71214573 71214573 single base substitution C T downstream_gene_variant MELA-AU 14 71214573 71214573 single base substitution C T intron_variant MELA-AU 14 71214618 71214618 single base substitution G A downstream_gene_variant MELA-AU 14 71214618 71214618 single base substitution G A intron_variant MELA-AU 14 71214725 71214725 single base substitution T G downstream_gene_variant MELA-AU 14 71214725 71214725 single base substitution T G intron_variant MELA-AU 14 71214996 71214996 single base substitution G A downstream_gene_variant MELA-AU 14 71214996 71214996 single base substitution G A intron_variant MELA-AU 14 71215357 71215357 single base substitution G A downstream_gene_variant MELA-AU 14 71215357 71215357 single base substitution G A intron_variant MELA-AU 14 71215541 71215541 single base substitution T C downstream_gene_variant MELA-AU 14 71215541 71215541 single base substitution T C splice_region_variant MELA-AU 14 71215618 71215618 single base substitution G A downstream_gene_variant MELA-AU 14 71215618 71215618 single base substitution G A synonymous_variant S112S 336C>T MELA-AU 14 71215618 71215618 single base substitution G A synonymous_variant S155S 465C>T MELA-AU 14 71215618 71215618 single base substitution G A synonymous_variant S418S 1254C>T MELA-AU 14 71215635 71215635 single base substitution C T downstream_gene_variant MELA-AU 14 71215635 71215635 single base substitution C T missense_variant E107K 319G>A MELA-AU 14 71215635 71215635 single base substitution C T missense_variant E150K 448G>A MELA-AU 14 71215635 71215635 single base substitution C T missense_variant E413K 1237G>A MELA-AU 14 71215660 71215660 single base substitution G A downstream_gene_variant MELA-AU 14 71215660 71215660 single base substitution G A synonymous_variant T141T 423C>T MELA-AU 14 71215660 71215660 single base substitution G A synonymous_variant T404T 1212C>T MELA-AU 14 71215660 71215660 single base substitution G A synonymous_variant T98T 294C>T MELA-AU 14 71216458 71216458 single base substitution A T exon_variant MELA-AU 14 71216458 71216458 single base substitution A T intron_variant MELA-AU 14 71216589 71216589 single base substitution C T exon_variant MELA-AU 14 71216589 71216589 single base substitution C T intron_variant MELA-AU 14 71216677 71216677 single base substitution G A exon_variant MELA-AU 14 71216677 71216677 single base substitution G A missense_variant P112S 334C>T MELA-AU 14 71216677 71216677 single base substitution G A missense_variant P375S 1123C>T MELA-AU 14 71216677 71216677 single base substitution G A missense_variant P69S 205C>T MELA-AU 14 71217165 71217165 single base substitution G A intron_variant MELA-AU 14 71217523 71217523 single base substitution G A intron_variant MELA-AU 14 71217790 71217790 single base substitution G A intron_variant MELA-AU 14 71218013 71218013 single base substitution A G intron_variant MELA-AU 14 71218641 71218641 single base substitution G A intron_variant MELA-AU 14 71218876 71218876 single base substitution G A intron_variant MELA-AU 14 71218900 71218900 single base substitution G A intron_variant MELA-AU 14 71219304 71219304 single base substitution C T intron_variant MELA-AU 14 71219902 71219902 single base substitution G A intron_variant MELA-AU 14 71219902 71219902 single base substitution G A upstream_gene_variant MELA-AU 14 71220080 71220080 single base substitution G A intron_variant MELA-AU 14 71220080 71220080 single base substitution G A upstream_gene_variant MELA-AU 14 71220133 71220133 single base substitution G A intron_variant MELA-AU 14 71220133 71220133 single base substitution G A upstream_gene_variant MELA-AU 14 71220201 71220201 single base substitution G A intron_variant MELA-AU 14 71220201 71220201 single base substitution G A upstream_gene_variant MELA-AU 14 71220233 71220233 single base substitution G A intron_variant MELA-AU 14 71220233 71220233 single base substitution G A upstream_gene_variant MELA-AU 14 71220532 71220532 single base substitution G A intron_variant MELA-AU 14 71220532 71220532 single base substitution G A upstream_gene_variant MELA-AU 14 71221182 71221182 single base substitution G A intron_variant MELA-AU 14 71221182 71221182 single base substitution G A upstream_gene_variant MELA-AU 14 71221217 71221217 single base substitution C T intron_variant MELA-AU 14 71221217 71221217 single base substitution C T upstream_gene_variant MELA-AU 14 71221252 71221252 single base substitution G A intron_variant MELA-AU 14 71221252 71221252 single base substitution G A upstream_gene_variant MELA-AU 14 71221456 71221456 single base substitution G A intron_variant MELA-AU 14 71221456 71221456 single base substitution G A upstream_gene_variant MELA-AU 14 71221537 71221537 single base substitution C A intron_variant MELA-AU 14 71221537 71221537 single base substitution C A upstream_gene_variant MELA-AU 14 71221558 71221558 single base substitution G A intron_variant MELA-AU 14 71221558 71221558 single base substitution G A upstream_gene_variant MELA-AU 14 71221624 71221624 single base substitution G A intron_variant MELA-AU 14 71221624 71221624 single base substitution G A upstream_gene_variant MELA-AU 14 71221694 71221695 multiple base substitution (>=2bp and <=200bp) GG AA intron_variant MELA-AU 14 71221694 71221695 multiple base substitution (>=2bp and <=200bp) GG AA upstream_gene_variant MELA-AU 14 71221977 71221977 single base substitution C T intron_variant MELA-AU 14 71221977 71221977 single base substitution C T upstream_gene_variant MELA-AU 14 71221985 71221985 single base substitution C T intron_variant MELA-AU 14 71221985 71221985 single base substitution C T upstream_gene_variant MELA-AU 14 71222029 71222029 single base substitution G A intron_variant MELA-AU 14 71222029 71222029 single base substitution G A upstream_gene_variant MELA-AU 14 71222216 71222216 single base substitution G A intron_variant MELA-AU 14 71222216 71222216 single base substitution G A upstream_gene_variant MELA-AU 14 71222432 71222432 single base substitution G A intron_variant MELA-AU 14 71222432 71222432 single base substitution G A upstream_gene_variant MELA-AU 14 71222764 71222764 single base substitution G A intron_variant MELA-AU 14 71222764 71222764 single base substitution G A upstream_gene_variant MELA-AU 14 71223069 71223069 single base substitution G A intron_variant MELA-AU 14 71223069 71223069 single base substitution G A upstream_gene_variant MELA-AU 14 71223311 71223311 single base substitution G A intron_variant MELA-AU 14 71223311 71223311 single base substitution G A upstream_gene_variant MELA-AU 14 71223373 71223373 single base substitution G A intron_variant MELA-AU 14 71223373 71223373 single base substitution G A upstream_gene_variant MELA-AU 14 71223467 71223467 single base substitution G A intron_variant MELA-AU 14 71223467 71223467 single base substitution G A upstream_gene_variant MELA-AU 14 71223477 71223477 single base substitution G T intron_variant MELA-AU 14 71223477 71223477 single base substitution G T upstream_gene_variant MELA-AU 14 71224171 71224172 multiple base substitution (>=2bp and <=200bp) CC TT intron_variant MELA-AU 14 71224171 71224172 multiple base substitution (>=2bp and <=200bp) CC TT upstream_gene_variant MELA-AU 14 71224184 71224184 single base substitution A T intron_variant MELA-AU 14 71224184 71224184 single base substitution A T upstream_gene_variant MELA-AU 14 71224232 71224232 single base substitution C T intron_variant MELA-AU 14 71224232 71224232 single base substitution C T upstream_gene_variant MELA-AU 14 71224415 71224415 single base substitution A C intron_variant MELA-AU 14 71224415 71224415 single base substitution A C upstream_gene_variant MELA-AU 14 71224549 71224549 single base substitution G A intron_variant MELA-AU 14 71224549 71224549 single base substitution G A upstream_gene_variant MELA-AU 14 71224754 71224754 single base substitution G A intron_variant MELA-AU 14 71225101 71225101 single base substitution A G intron_variant MELA-AU 14 71225142 71225142 single base substitution G A intron_variant MELA-AU 14 71225397 71225400 deletion of <=200bp AAAC - intron_variant MELA-AU 14 71225583 71225583 single base substitution G A intron_variant MELA-AU 14 71225615 71225615 single base substitution G A intron_variant MELA-AU 14 71225750 71225750 single base substitution C T intron_variant MELA-AU 14 71225780 71225780 single base substitution G A intron_variant MELA-AU 14 71225830 71225830 single base substitution G A intron_variant MELA-AU 14 71225962 71225962 single base substitution G A intron_variant MELA-AU 14 71226190 71226190 single base substitution G A intron_variant MELA-AU 14 71226336 71226337 multiple base substitution (>=2bp and <=200bp) CC TT intron_variant MELA-AU 14 71226341 71226341 single base substitution G A intron_variant MELA-AU 14 71227156 71227156 single base substitution A G intron_variant MELA-AU 14 71227224 71227224 single base substitution G A intron_variant MELA-AU 14 71227394 71227394 single base substitution C T intron_variant MELA-AU 14 71227748 71227748 single base substitution G A synonymous_variant S18S 54C>T MELA-AU 14 71227748 71227748 single base substitution G A synonymous_variant S324S 972C>T MELA-AU 14 71227748 71227748 single base substitution G A synonymous_variant S61S 183C>T MELA-AU 14 71227808 71227808 single base substitution G A 5_prime_UTR_variant MELA-AU 14 71227808 71227808 single base substitution G A synonymous_variant T304T 912C>T MELA-AU 14 71227808 71227808 single base substitution G A synonymous_variant T41T 123C>T MELA-AU 14 71227999 71227999 single base substitution G A intron_variant MELA-AU 14 71228021 71228021 single base substitution G A intron_variant MELA-AU 14 71228529 71228529 single base substitution G A intron_variant MELA-AU 14 71228602 71228602 single base substitution G A intron_variant MELA-AU 14 71228606 71228606 single base substitution C T intron_variant MELA-AU 14 71228733 71228733 single base substitution G A intron_variant MELA-AU 14 71229423 71229423 single base substitution C T intron_variant MELA-AU 14 71229946 71229946 single base substitution C T intron_variant MELA-AU 14 71230060 71230060 single base substitution C T intron_variant MELA-AU 14 71230579 71230579 single base substitution G A intron_variant MELA-AU 14 71230946 71230946 single base substitution C T intron_variant MELA-AU 14 71231459 71231459 single base substitution G A intron_variant MELA-AU 14 71231746 71231746 single base substitution G A intron_variant MELA-AU 14 71231822 71231822 single base substitution G A intron_variant MELA-AU 14 71232321 71232321 single base substitution C T intron_variant MELA-AU 14 71232718 71232718 single base substitution G A intron_variant MELA-AU 14 71232936 71232936 single base substitution G A intron_variant MELA-AU 14 71233423 71233424 multiple base substitution (>=2bp and <=200bp) GG AA intron_variant MELA-AU 14 71233539 71233539 single base substitution C T intron_variant MELA-AU 14 71233582 71233582 single base substitution C T intron_variant MELA-AU 14 71233756 71233756 single base substitution A G intron_variant MELA-AU 14 71233819 71233819 single base substitution G A intron_variant MELA-AU 14 71233820 71233820 single base substitution G A intron_variant MELA-AU 14 71234034 71234034 single base substitution G A intron_variant MELA-AU 14 71234196 71234196 single base substitution C T intron_variant MELA-AU 14 71234255 71234255 single base substitution A C intron_variant MELA-AU 14 71234279 71234279 single base substitution G A intron_variant MELA-AU 14 71234454 71234454 single base substitution G A intron_variant MELA-AU 14 71234892 71234892 single base substitution G A intron_variant MELA-AU 14 71235373 71235373 single base substitution G A intron_variant MELA-AU 14 71235602 71235602 single base substitution C T intron_variant MELA-AU 14 71235644 71235644 single base substitution C A intron_variant MELA-AU 14 71235733 71235733 single base substitution G A intron_variant MELA-AU 14 71235782 71235782 single base substitution G A intron_variant MELA-AU 14 71236054 71236055 multiple base substitution (>=2bp and <=200bp) CC TT intron_variant MELA-AU 14 71236263 71236263 single base substitution C T intron_variant MELA-AU 14 71236339 71236339 single base substitution G A intron_variant MELA-AU 14 71236584 71236584 single base substitution A G intron_variant MELA-AU 14 71236713 71236713 single base substitution C T intron_variant MELA-AU 14 71237244 71237244 single base substitution C T intron_variant MELA-AU 14 71237248 71237248 single base substitution G A intron_variant MELA-AU 14 71237478 71237478 single base substitution C T intron_variant MELA-AU 14 71237525 71237525 single base substitution C T intron_variant MELA-AU 14 71237638 71237638 single base substitution T C intron_variant MELA-AU 14 71237901 71237901 single base substitution G A intron_variant MELA-AU 14 71238154 71238154 single base substitution C T intron_variant MELA-AU 14 71238746 71238746 single base substitution C T intron_variant MELA-AU 14 71238814 71238814 single base substitution C T intron_variant MELA-AU 14 71238893 71238893 single base substitution T G intron_variant MELA-AU 14 71239323 71239324 multiple base substitution (>=2bp and <=200bp) GG AA intron_variant MELA-AU 14 71239580 71239580 single base substitution G A intron_variant MELA-AU 14 71240419 71240419 single base substitution G A intron_variant MELA-AU 14 71240474 71240474 single base substitution G A intron_variant MELA-AU 14 71240773 71240773 single base substitution G A intron_variant MELA-AU 14 71241110 71241110 single base substitution C T intron_variant MELA-AU 14 71241122 71241122 single base substitution C T intron_variant MELA-AU 14 71241521 71241521 single base substitution G A intron_variant MELA-AU 14 71241624 71241624 single base substitution C T intron_variant MELA-AU 14 71241929 71241929 single base substitution C T intron_variant MELA-AU 14 71241935 71241935 single base substitution G A intron_variant MELA-AU 14 71242040 71242040 single base substitution G A intron_variant MELA-AU 14 71242384 71242384 single base substitution C T intron_variant MELA-AU 14 71242392 71242392 single base substitution G A intron_variant MELA-AU 14 71242561 71242561 single base substitution G A intron_variant MELA-AU 14 71242610 71242610 single base substitution G A intron_variant MELA-AU 14 71242893 71242893 single base substitution G A intron_variant MELA-AU 14 71242895 71242895 single base substitution G A intron_variant MELA-AU 14 71243133 71243133 single base substitution G A intron_variant MELA-AU 14 71243137 71243137 single base substitution C T intron_variant MELA-AU 14 71243252 71243252 single base substitution G A intron_variant MELA-AU 14 71243443 71243443 single base substitution C A intron_variant MELA-AU 14 71244245 71244245 single base substitution G A intron_variant MELA-AU 14 71244246 71244246 single base substitution G A intron_variant MELA-AU 14 71244290 71244290 single base substitution C T intron_variant MELA-AU 14 71244449 71244449 single base substitution G A intron_variant MELA-AU 14 71244770 71244770 single base substitution G A intron_variant MELA-AU 14 71244771 71244771 single base substitution G A intron_variant MELA-AU 14 71244777 71244777 single base substitution C T intron_variant MELA-AU 14 71244818 71244818 single base substitution A G intron_variant MELA-AU 14 71245018 71245018 single base substitution G A intron_variant MELA-AU 14 71245294 71245294 single base substitution A G intron_variant MELA-AU 14 71245332 71245332 single base substitution A G intron_variant MELA-AU 14 71245381 71245381 single base substitution G A intron_variant MELA-AU 14 71245770 71245770 single base substitution G A intron_variant MELA-AU 14 71245937 71245937 single base substitution G A intron_variant MELA-AU 14 71246097 71246097 single base substitution G A intron_variant MELA-AU 14 71246178 71246178 single base substitution G A intron_variant MELA-AU 14 71246614 71246614 single base substitution G A intron_variant MELA-AU 14 71247129 71247129 single base substitution G A intron_variant MELA-AU 14 71247609 71247609 single base substitution G A intron_variant MELA-AU 14 71247640 71247640 single base substitution G A intron_variant MELA-AU 14 71247768 71247768 single base substitution C T intron_variant MELA-AU 14 71247775 71247775 single base substitution G A intron_variant MELA-AU 14 71247792 71247792 single base substitution C T intron_variant MELA-AU 14 71247818 71247818 single base substitution C T intron_variant MELA-AU 14 71247978 71247978 single base substitution C T intron_variant MELA-AU 14 71248261 71248261 single base substitution G A intron_variant MELA-AU 14 71248327 71248327 single base substitution G A intron_variant MELA-AU 14 71248459 71248459 single base substitution G A intron_variant MELA-AU 14 71248472 71248473 multiple base substitution (>=2bp and <=200bp) GG AA intron_variant MELA-AU 14 71248607 71248607 single base substitution G A intron_variant MELA-AU 14 71248813 71248813 single base substitution C T intron_variant MELA-AU 14 71248944 71248944 single base substitution G A intron_variant MELA-AU 14 71249239 71249239 single base substitution G A intron_variant MELA-AU 14 71249576 71249576 single base substitution G A intron_variant MELA-AU 14 71249982 71249982 single base substitution G T 5_prime_UTR_variant MELA-AU 14 71249982 71249982 single base substitution G T intron_variant MELA-AU 14 71249997 71249997 single base substitution G A 5_prime_UTR_premature_start_codon_gain_variant MELA-AU 14 71249997 71249997 single base substitution G A intron_variant MELA-AU 14 71250054 71250054 single base substitution G A 5_prime_UTR_variant MELA-AU 14 71250054 71250054 single base substitution G A intron_variant MELA-AU 14 71250608 71250608 single base substitution G A intron_variant MELA-AU 14 71250608 71250608 single base substitution G A upstream_gene_variant MELA-AU 14 71250693 71250693 single base substitution C T intron_variant MELA-AU 14 71250693 71250693 single base substitution C T upstream_gene_variant MELA-AU 14 71250827 71250827 single base substitution T C intron_variant MELA-AU 14 71250827 71250827 single base substitution T C upstream_gene_variant MELA-AU 14 71250875 71250875 single base substitution C T intron_variant MELA-AU 14 71250875 71250875 single base substitution C T upstream_gene_variant MELA-AU 14 71250924 71250924 single base substitution C T intron_variant MELA-AU 14 71250924 71250924 single base substitution C T upstream_gene_variant MELA-AU 14 71250954 71250954 single base substitution C T intron_variant MELA-AU 14 71250954 71250954 single base substitution C T upstream_gene_variant MELA-AU 14 71250995 71250995 single base substitution C T intron_variant MELA-AU 14 71250995 71250995 single base substitution C T upstream_gene_variant MELA-AU 14 71251225 71251225 single base substitution C T intron_variant MELA-AU 14 71251225 71251225 single base substitution C T upstream_gene_variant MELA-AU 14 71251323 71251323 single base substitution G A intron_variant MELA-AU 14 71251323 71251323 single base substitution G A upstream_gene_variant MELA-AU 14 71251387 71251387 single base substitution G A intron_variant MELA-AU 14 71251387 71251387 single base substitution G A upstream_gene_variant MELA-AU 14 71251408 71251408 single base substitution C T intron_variant MELA-AU 14 71251408 71251408 single base substitution C T upstream_gene_variant MELA-AU 14 71251436 71251436 single base substitution G A intron_variant MELA-AU 14 71251436 71251436 single base substitution G A upstream_gene_variant MELA-AU 14 71251619 71251619 single base substitution G A intron_variant MELA-AU 14 71251619 71251619 single base substitution G A upstream_gene_variant MELA-AU 14 71251640 71251640 single base substitution C T intron_variant MELA-AU 14 71251640 71251640 single base substitution C T upstream_gene_variant MELA-AU 14 71251877 71251877 single base substitution C T intron_variant MELA-AU 14 71251877 71251877 single base substitution C T upstream_gene_variant MELA-AU 14 71251878 71251878 single base substitution C T intron_variant MELA-AU 14 71251878 71251878 single base substitution C T upstream_gene_variant MELA-AU 14 71251961 71251961 single base substitution A G intron_variant MELA-AU 14 71251961 71251961 single base substitution A G upstream_gene_variant MELA-AU 14 71252085 71252085 single base substitution C T intron_variant MELA-AU 14 71252085 71252085 single base substitution C T upstream_gene_variant MELA-AU 14 71252501 71252501 single base substitution A C intron_variant MELA-AU 14 71252501 71252501 single base substitution A C upstream_gene_variant MELA-AU 14 71252523 71252523 single base substitution G A intron_variant MELA-AU 14 71252523 71252523 single base substitution G A upstream_gene_variant MELA-AU 14 71252722 71252722 single base substitution G A intron_variant MELA-AU 14 71252722 71252722 single base substitution G A upstream_gene_variant MELA-AU 14 71253241 71253241 single base substitution G A intron_variant MELA-AU 14 71253241 71253241 single base substitution G A upstream_gene_variant MELA-AU 14 71253288 71253288 single base substitution G A intron_variant MELA-AU 14 71253288 71253288 single base substitution G A upstream_gene_variant MELA-AU 14 71253459 71253459 single base substitution C T intron_variant MELA-AU 14 71253459 71253459 single base substitution C T upstream_gene_variant MELA-AU 14 71254464 71254464 single base substitution G A intron_variant MELA-AU 14 71254464 71254464 single base substitution G A upstream_gene_variant MELA-AU 14 71254514 71254514 single base substitution G A intron_variant MELA-AU 14 71254514 71254514 single base substitution G A upstream_gene_variant MELA-AU 14 71254515 71254515 single base substitution G A intron_variant MELA-AU 14 71254515 71254515 single base substitution G A upstream_gene_variant MELA-AU 14 71254622 71254622 single base substitution G A intron_variant MELA-AU 14 71254622 71254622 single base substitution G A upstream_gene_variant MELA-AU 14 71254625 71254625 single base substitution G A intron_variant MELA-AU 14 71254625 71254625 single base substitution G A upstream_gene_variant MELA-AU 14 71254635 71254635 single base substitution G A intron_variant MELA-AU 14 71254635 71254635 single base substitution G A upstream_gene_variant MELA-AU 14 71254665 71254665 single base substitution G A intron_variant MELA-AU 14 71254665 71254665 single base substitution G A upstream_gene_variant MELA-AU 14 71254985 71254985 single base substitution C A intron_variant MELA-AU 14 71254985 71254985 single base substitution C A upstream_gene_variant MELA-AU 14 71255046 71255046 single base substitution G A intron_variant MELA-AU 14 71255046 71255046 single base substitution G A upstream_gene_variant MELA-AU 14 71255263 71255263 single base substitution G A intron_variant MELA-AU 14 71255730 71255730 single base substitution C T intron_variant MELA-AU 14 71256282 71256282 single base substitution C T intron_variant MELA-AU 14 71256414 71256415 multiple base substitution (>=2bp and <=200bp) GG AA intron_variant MELA-AU 14 71256857 71256857 single base substitution C T intron_variant MELA-AU 14 71257504 71257504 single base substitution G A intron_variant MELA-AU 14 71257511 71257511 single base substitution G A intron_variant MELA-AU 14 71257656 71257656 single base substitution G A intron_variant MELA-AU 14 71257720 71257720 single base substitution C T intron_variant MELA-AU 14 71257795 71257795 single base substitution G A intron_variant MELA-AU 14 71257842 71257842 single base substitution G T intron_variant MELA-AU 14 71257921 71257921 single base substitution C T intron_variant MELA-AU 14 71258179 71258179 single base substitution G A intron_variant MELA-AU 14 71258245 71258245 single base substitution G A intron_variant MELA-AU 14 71258285 71258285 single base substitution T A intron_variant MELA-AU 14 71258661 71258661 single base substitution G A intron_variant MELA-AU 14 71258754 71258754 single base substitution G A intron_variant MELA-AU 14 71258989 71258989 single base substitution G A intron_variant MELA-AU 14 71259075 71259075 single base substitution G A intron_variant MELA-AU 14 71259349 71259349 single base substitution G A intron_variant MELA-AU 14 71259594 71259594 single base substitution A C intron_variant MELA-AU 14 71259821 71259821 single base substitution G A intron_variant MELA-AU 14 71259840 71259840 single base substitution G A intron_variant MELA-AU 14 71259860 71259860 single base substitution C A intron_variant MELA-AU 14 71260007 71260007 single base substitution G A intron_variant MELA-AU 14 71260074 71260074 single base substitution G A intron_variant MELA-AU 14 71260098 71260098 single base substitution G A intron_variant MELA-AU 14 71260179 71260179 single base substitution G A intron_variant MELA-AU 14 71260453 71260454 multiple base substitution (>=2bp and <=200bp) GG AA intron_variant MELA-AU 14 71260867 71260867 single base substitution G A intron_variant MELA-AU 14 71261060 71261060 single base substitution C G intron_variant MELA-AU 14 71261067 71261067 single base substitution G A intron_variant MELA-AU 14 71261470 71261470 single base substitution C T intron_variant MELA-AU 14 71261585 71261585 single base substitution G A intron_variant MELA-AU 14 71261948 71261948 single base substitution C T intron_variant MELA-AU 14 71261982 71261982 single base substitution G A intron_variant MELA-AU 14 71263022 71263022 single base substitution T A intron_variant MELA-AU 14 71263157 71263157 single base substitution C T intron_variant MELA-AU 14 71263177 71263177 single base substitution G A intron_variant MELA-AU 14 71263299 71263299 single base substitution C A intron_variant MELA-AU 14 71263386 71263386 single base substitution G A intron_variant MELA-AU 14 71263469 71263469 single base substitution G A intron_variant MELA-AU 14 71263539 71263539 single base substitution G A intron_variant MELA-AU 14 71263542 71263542 single base substitution A C intron_variant MELA-AU 14 71263559 71263559 single base substitution C T intron_variant MELA-AU 14 71263573 71263573 single base substitution G A intron_variant MELA-AU 14 71263992 71263992 single base substitution G A intron_variant MELA-AU 14 71264031 71264031 single base substitution G A intron_variant MELA-AU 14 71264043 71264043 single base substitution C T intron_variant MELA-AU 14 71264060 71264061 multiple base substitution (>=2bp and <=200bp) GG AA intron_variant MELA-AU 14 71264195 71264195 single base substitution C T intron_variant MELA-AU 14 71264329 71264329 single base substitution C T intron_variant MELA-AU 14 71264454 71264454 single base substitution A T intron_variant MELA-AU 14 71264782 71264782 single base substitution G A intron_variant MELA-AU 14 71265487 71265487 single base substitution G T intron_variant MELA-AU 14 71265588 71265588 single base substitution G A intron_variant MELA-AU 14 71265902 71265902 single base substitution A T intron_variant MELA-AU 14 71266012 71266012 single base substitution G A intron_variant MELA-AU 14 71266143 71266143 single base substitution A T intron_variant MELA-AU 14 71266217 71266217 single base substitution C T intron_variant MELA-AU 14 71266291 71266291 single base substitution C T intron_variant MELA-AU 14 71266639 71266640 multiple base substitution (>=2bp and <=200bp) AC CT intron_variant MELA-AU 14 71266722 71266722 single base substitution A T intron_variant MELA-AU 14 71266777 71266777 single base substitution T C intron_variant MELA-AU 14 71266829 71266829 single base substitution A T intron_variant MELA-AU 14 71267117 71267117 single base substitution G A intron_variant MELA-AU 14 71267684 71267684 single base substitution G A missense_variant R174C 520C>T MELA-AU 14 71267854 71267854 single base substitution T C intron_variant MELA-AU 14 71267983 71267983 single base substitution C T intron_variant MELA-AU 14 71268131 71268131 single base substitution C T intron_variant MELA-AU 14 71268251 71268251 single base substitution G A intron_variant MELA-AU 14 71268414 71268414 single base substitution C T intron_variant MELA-AU 14 71268595 71268595 single base substitution G A intron_variant MELA-AU 14 71268623 71268623 single base substitution G A intron_variant MELA-AU 14 71268662 71268662 single base substitution G A intron_variant MELA-AU 14 71268665 71268665 single base substitution G A intron_variant MELA-AU 14 71268686 71268686 single base substitution G A intron_variant MELA-AU 14 71268754 71268754 single base substitution G A intron_variant MELA-AU 14 71268776 71268776 single base substitution G A intron_variant MELA-AU 14 71268970 71268970 single base substitution G A intron_variant MELA-AU 14 71269056 71269056 single base substitution G A intron_variant MELA-AU 14 71269573 71269573 single base substitution T A intron_variant MELA-AU 14 71269607 71269607 single base substitution G A intron_variant MELA-AU 14 71269623 71269623 single base substitution G A intron_variant MELA-AU 14 71269863 71269863 single base substitution G A intron_variant MELA-AU 14 71270029 71270029 single base substitution G A intron_variant MELA-AU 14 71270643 71270643 single base substitution C T intron_variant MELA-AU 14 71270742 71270742 single base substitution G A intron_variant MELA-AU 14 71271498 71271519 deletion of <=200bp ATAACCTCTCTTTGAGTAGAAC - intron_variant MELA-AU 14 71271793 71271793 single base substitution A C intron_variant MELA-AU 14 71271816 71271816 single base substitution G A intron_variant MELA-AU 14 71271836 71271836 single base substitution G A intron_variant MELA-AU 14 71272539 71272539 single base substitution G A intron_variant MELA-AU 14 71273056 71273056 single base substitution C T intron_variant MELA-AU 14 71273308 71273308 single base substitution G A intron_variant MELA-AU 14 71273465 71273465 single base substitution C T intron_variant MELA-AU 14 71273629 71273629 single base substitution C T intron_variant MELA-AU 14 71273630 71273630 single base substitution A C intron_variant MELA-AU 14 71273794 71273794 single base substitution G A intron_variant MELA-AU 14 71275137 71275137 single base substitution G A intron_variant MELA-AU 14 71276617 71276617 single base substitution C T upstream_gene_variant MELA-AU 14 71276740 71276740 single base substitution G A upstream_gene_variant MELA-AU 14 71277438 71277438 single base substitution C T upstream_gene_variant MELA-AU 14 71278424 71278424 single base substitution T G upstream_gene_variant MELA-AU 14 71278755 71278755 single base substitution C T upstream_gene_variant MELA-AU 14 71278763 71278763 single base substitution C T upstream_gene_variant MELA-AU 14 71278856 71278857 multiple base substitution (>=2bp and <=200bp) CC TT upstream_gene_variant MELA-AU 14 71279152 71279152 single base substitution G A upstream_gene_variant MELA-AU 14 71279165 71279165 single base substitution G A upstream_gene_variant MELA-AU 14 71279920 71279920 single base substitution G T upstream_gene_variant MELA-AU 14 71280086 71280087 multiple base substitution (>=2bp and <=200bp) CC AT upstream_gene_variant MELA-AU 14 71280091 71280091 single base substitution C T upstream_gene_variant MELA-AU 14 71280160 71280160 single base substitution C T upstream_gene_variant MELA-AU 14 71280356 71280356 single base substitution G A upstream_gene_variant MELA-AU 14 71280534 71280534 single base substitution G A upstream_gene_variant MELA-AU 14 71280555 71280555 single base substitution G A upstream_gene_variant MELA-AU 14 71280901 71280901 single base substitution C T upstream_gene_variant MELA-AU 14 71280902 71280902 single base substitution C T upstream_gene_variant MELA-AU 14 71281235 71281235 single base substitution C T upstream_gene_variant ORCA-IN 14 71199725 71199725 single base substitution G A synonymous_variant A515A 1545C>T ORCA-IN 14 71199725 71199725 single base substitution G A synonymous_variant A520A 1560C>T ORCA-IN 14 71199725 71199725 single base substitution G A synonymous_variant A764A 2292C>T ORCA-IN 14 71199725 71199725 single base substitution G A synonymous_variant A787A 2361C>T ORCA-IN 14 71199725 71199725 single base substitution G A synonymous_variant A801A 2403C>T ORCA-IN 14 71204602 71204602 single base substitution G A intron_variant ORCA-IN 14 71216669 71216669 single base substitution A G exon_variant ORCA-IN 14 71216669 71216669 single base substitution A G synonymous_variant P114P 342T>C ORCA-IN 14 71216669 71216669 single base substitution A G synonymous_variant P377P 1131T>C ORCA-IN 14 71216669 71216669 single base substitution A G synonymous_variant P71P 213T>C ORCA-IN 14 71219755 71219755 single base substitution G A intron_variant ORCA-IN 14 71219755 71219755 single base substitution G A upstream_gene_variant ORCA-IN 14 71221861 71221861 single base substitution C T intron_variant ORCA-IN 14 71221861 71221861 single base substitution C T upstream_gene_variant ORCA-IN 14 71222103 71222103 single base substitution G A intron_variant ORCA-IN 14 71222103 71222103 single base substitution G A upstream_gene_variant OV-AU 14 71184648 71184648 single base substitution G A downstream_gene_variant OV-AU 14 71187083 71187083 single base substitution G A downstream_gene_variant OV-AU 14 71188413 71188413 single base substitution C G downstream_gene_variant OV-AU 14 71203590 71203590 single base substitution C A intron_variant OV-AU 14 71203592 71203592 single base substitution A T intron_variant OV-AU 14 71205819 71205819 single base substitution A T intron_variant OV-AU 14 71231037 71231037 single base substitution C A intron_variant OV-AU 14 71250521 71250521 single base substitution C T intron_variant OV-AU 14 71250521 71250521 single base substitution C T upstream_gene_variant OV-AU 14 71253397 71253397 single base substitution C T intron_variant OV-AU 14 71253397 71253397 single base substitution C T upstream_gene_variant OV-AU 14 71256853 71256853 single base substitution T A intron_variant PACA-AU 14 71184703 71184703 single base substitution C T downstream_gene_variant PACA-AU 14 71186669 71186669 single base substitution T A downstream_gene_variant PACA-AU 14 71190488 71190497 deletion of <=200bp CACCGCCCCC - 3_prime_UTR_variant PACA-AU 14 71193564 71193564 single base substitution T C 3_prime_UTR_variant PACA-AU 14 71193564 71193564 single base substitution T C downstream_gene_variant PACA-AU 14 71199669 71199669 single base substitution C T missense_variant R534Q 1601G>A PACA-AU 14 71199669 71199669 single base substitution C T missense_variant R539Q 1616G>A PACA-AU 14 71199669 71199669 single base substitution C T missense_variant R783Q 2348G>A PACA-AU 14 71199669 71199669 single base substitution C T missense_variant R806Q 2417G>A PACA-AU 14 71199669 71199669 single base substitution C T missense_variant R820Q 2459G>A PACA-AU 14 71199901 71199902 multiple base substitution (>=2bp and <=200bp) TC AA missense_variant TS456TC PACA-AU 14 71199901 71199902 multiple base substitution (>=2bp and <=200bp) TC AA missense_variant TS461TC PACA-AU 14 71199901 71199902 multiple base substitution (>=2bp and <=200bp) TC AA missense_variant TS705TC PACA-AU 14 71199901 71199902 multiple base substitution (>=2bp and <=200bp) TC AA missense_variant TS728TC PACA-AU 14 71199901 71199902 multiple base substitution (>=2bp and <=200bp) TC AA missense_variant TS742TC PACA-AU 14 71205441 71205441 single base substitution G T intron_variant PACA-AU 14 71205462 71205462 single base substitution G T intron_variant PACA-AU 14 71209278 71209278 single base substitution G A missense_variant R147W 439C>T PACA-AU 14 71209278 71209278 single base substitution G A missense_variant R190W 568C>T PACA-AU 14 71209278 71209278 single base substitution G A missense_variant R453W 1357C>T PACA-AU 14 71218512 71218512 single base substitution T A intron_variant PACA-AU 14 71219638 71219638 single base substitution G A intron_variant PACA-AU 14 71225098 71225098 single base substitution T A intron_variant PACA-AU 14 71230201 71230201 insertion of <=200bp - TAATACCT intron_variant PACA-AU 14 71232390 71232390 single base substitution G A intron_variant PACA-AU 14 71233198 71233198 single base substitution C A intron_variant PACA-AU 14 71238694 71238694 single base substitution G A intron_variant PACA-AU 14 71244621 71244621 single base substitution C T intron_variant PACA-AU 14 71246662 71246662 single base substitution C T intron_variant PACA-AU 14 71249996 71249996 single base substitution C T 5_prime_UTR_variant PACA-AU 14 71249996 71249996 single base substitution C T intron_variant PACA-AU 14 71260878 71260878 single base substitution G A intron_variant PACA-AU 14 71272516 71272516 single base substitution G A intron_variant PACA-AU 14 71279779 71279779 insertion of <=200bp - A upstream_gene_variant PACA-CA 14 71190031 71190031 single base substitution A G 3_prime_UTR_variant PACA-CA 14 71197328 71197328 single base substitution C T synonymous_variant T1005T 3015G>A PACA-CA 14 71197328 71197328 single base substitution C T synonymous_variant T1028T 3084G>A PACA-CA 14 71197328 71197328 single base substitution C T synonymous_variant T1042T 3126G>A PACA-CA 14 71197328 71197328 single base substitution C T synonymous_variant T756T 2268G>A PACA-CA 14 71197328 71197328 single base substitution C T synonymous_variant T761T 2283G>A PACA-CA 14 71202183 71202183 single base substitution C T intron_variant PACA-CA 14 71205026 71205026 single base substitution T C missense_variant K331E 991A>G PACA-CA 14 71205026 71205026 single base substitution T C missense_variant K336E 1006A>G PACA-CA 14 71205026 71205026 single base substitution T C missense_variant K594E 1780A>G PACA-CA 14 71205189 71205189 insertion of <=200bp - CA intron_variant PACA-CA 14 71205467 71205467 deletion of <=200bp A - intron_variant PACA-CA 14 71208694 71208694 single base substitution T C intron_variant PACA-CA 14 71209278 71209278 single base substitution G A missense_variant R147W 439C>T PACA-CA 14 71209278 71209278 single base substitution G A missense_variant R190W 568C>T PACA-CA 14 71209278 71209278 single base substitution G A missense_variant R453W 1357C>T PACA-CA 14 71211942 71211942 single base substitution T C downstream_gene_variant PACA-CA 14 71211942 71211942 single base substitution T C intron_variant PACA-CA 14 71217605 71217605 insertion of <=200bp - T intron_variant PACA-CA 14 71221332 71221332 single base substitution G A intron_variant PACA-CA 14 71221332 71221332 single base substitution G A upstream_gene_variant PACA-CA 14 71221609 71221609 single base substitution C T intron_variant PACA-CA 14 71221609 71221609 single base substitution C T upstream_gene_variant PACA-CA 14 71224190 71224190 single base substitution A G intron_variant PACA-CA 14 71224190 71224190 single base substitution A G upstream_gene_variant PACA-CA 14 71224246 71224246 single base substitution G A intron_variant PACA-CA 14 71224246 71224246 single base substitution G A upstream_gene_variant PACA-CA 14 71225499 71225499 single base substitution G T intron_variant PACA-CA 14 71228218 71228218 single base substitution G A intron_variant PACA-CA 14 71232341 71232341 single base substitution G A intron_variant PACA-CA 14 71233364 71233364 single base substitution C G intron_variant PACA-CA 14 71238879 71238879 single base substitution C T intron_variant PACA-CA 14 71245424 71245424 single base substitution A T intron_variant PACA-CA 14 71254730 71254730 insertion of <=200bp - A intron_variant PACA-CA 14 71254730 71254730 insertion of <=200bp - A upstream_gene_variant PACA-CA 14 71255087 71255087 single base substitution G A intron_variant PACA-CA 14 71255087 71255087 single base substitution G A upstream_gene_variant PACA-CA 14 71258715 71258715 single base substitution G T intron_variant PACA-CA 14 71259797 71259797 single base substitution G A intron_variant PACA-CA 14 71264932 71264932 single base substitution C T intron_variant PACA-CA 14 71267578 71267578 single base substitution A G missense_variant V209A 626T>C PACA-CA 14 71272942 71272942 single base substitution G A intron_variant PACA-CA 14 71279065 71279065 single base substitution G A upstream_gene_variant PAEN-AU 14 71244758 71244758 single base substitution G A intron_variant PAEN-AU 14 71252953 71252953 single base substitution A G intron_variant PAEN-AU 14 71252953 71252953 single base substitution A G upstream_gene_variant PAEN-AU 14 71276875 71276875 single base substitution G A upstream_gene_variant PAEN-IT 14 71273418 71273418 single base substitution T C intron_variant PBCA-DE 14 71185695 71185695 single base substitution C G downstream_gene_variant PBCA-DE 14 71199246 71199246 single base substitution G A intron_variant PBCA-DE 14 71203961 71203961 single base substitution C T intron_variant PBCA-DE 14 71206220 71206221 deletion of <=200bp CA - intron_variant PBCA-DE 14 71207446 71207446 single base substitution T C intron_variant PBCA-DE 14 71225288 71225288 single base substitution A G intron_variant PBCA-DE 14 71241804 71241804 single base substitution C T intron_variant PBCA-DE 14 71248417 71248417 single base substitution G T intron_variant PBCA-DE 14 71261754 71261754 single base substitution G A intron_variant PBCA-DE 14 71267354 71267354 single base substitution G T intron_variant PBCA-DE 14 71269645 71269645 single base substitution C T intron_variant PBCA-DE 14 71275774 71275776 deletion of <=200bp CCT - disruptive_inframe_deletion EA38A PBCA-DE 14 71277433 71277433 single base substitution T C upstream_gene_variant PBCA-DE 14 71277438 71277438 single base substitution C T upstream_gene_variant PBCA-DE 14 71277686 71277686 single base substitution T C upstream_gene_variant PRAD-CA 14 71217325 71217325 single base substitution C A intron_variant PRAD-CA 14 71218267 71218267 single base substitution C T intron_variant PRAD-CA 14 71240663 71240663 single base substitution T C intron_variant PRAD-CA 14 71245836 71245836 single base substitution T C intron_variant PRAD-CA 14 71248732 71248732 single base substitution C A intron_variant PRAD-CA 14 71261203 71261203 single base substitution G A intron_variant PRAD-CA 14 71280218 71280218 single base substitution C T upstream_gene_variant PRAD-UK 14 71187109 71187109 single base substitution G T downstream_gene_variant PRAD-UK 14 71198144 71198144 single base substitution T A intron_variant PRAD-UK 14 71203929 71203943 deletion of <=200bp CAGGAAGTGTCATCA - intron_variant PRAD-UK 14 71209401 71209401 single base substitution G C intron_variant PRAD-UK 14 71244370 71244370 single base substitution C A intron_variant PRAD-UK 14 71250887 71250887 single base substitution C T intron_variant PRAD-UK 14 71250887 71250887 single base substitution C T upstream_gene_variant PRAD-UK 14 71252030 71252030 deletion of <=200bp G - intron_variant PRAD-UK 14 71252030 71252030 deletion of <=200bp G - upstream_gene_variant PRAD-UK 14 71257306 71257306 single base substitution C T intron_variant PRAD-US 14 71215544 71215544 single base substitution A T downstream_gene_variant PRAD-US 14 71215544 71215544 single base substitution A T splice_donor_variant PRAD-US 14 71216681 71216681 single base substitution C T exon_variant PRAD-US 14 71216681 71216681 single base substitution C T synonymous_variant T110T 330G>A PRAD-US 14 71216681 71216681 single base substitution C T synonymous_variant T373T 1119G>A PRAD-US 14 71216681 71216681 single base substitution C T synonymous_variant T67T 201G>A PRAD-US 14 71275774 71275776 deletion of <=200bp CCT - disruptive_inframe_deletion EA38A READ-US 14 71197353 71197353 single base substitution G T missense_variant P1020Q 3059C>A READ-US 14 71197353 71197353 single base substitution G T missense_variant P1034Q 3101C>A READ-US 14 71197353 71197353 single base substitution G T missense_variant P748Q 2243C>A READ-US 14 71197353 71197353 single base substitution G T missense_variant P753Q 2258C>A READ-US 14 71197353 71197353 single base substitution G T missense_variant P997Q 2990C>A RECA-EU 14 71194633 71194633 single base substitution C T 3_prime_UTR_variant RECA-EU 14 71194633 71194633 single base substitution C T downstream_gene_variant RECA-EU 14 71196215 71196215 single base substitution G C 3_prime_UTR_variant RECA-EU 14 71196215 71196215 single base substitution G C downstream_gene_variant RECA-EU 14 71196216 71196216 single base substitution T A 3_prime_UTR_variant RECA-EU 14 71196216 71196216 single base substitution T A downstream_gene_variant RECA-EU 14 71200315 71200315 single base substitution T A intron_variant RECA-EU 14 71213928 71213928 single base substitution G A downstream_gene_variant RECA-EU 14 71213928 71213928 single base substitution G A intron_variant RECA-EU 14 71219964 71219964 single base substitution G C intron_variant RECA-EU 14 71219964 71219964 single base substitution G C upstream_gene_variant RECA-EU 14 71223729 71223729 single base substitution A G intron_variant RECA-EU 14 71223729 71223729 single base substitution A G upstream_gene_variant RECA-EU 14 71224284 71224284 single base substitution A C intron_variant RECA-EU 14 71224284 71224284 single base substitution A C upstream_gene_variant RECA-EU 14 71226799 71226799 single base substitution G C intron_variant RECA-EU 14 71229203 71229203 single base substitution T A intron_variant RECA-EU 14 71245935 71245935 single base substitution T A intron_variant RECA-EU 14 71249698 71249698 single base substitution G T intron_variant RECA-EU 14 71263242 71263242 single base substitution C G intron_variant RECA-EU 14 71264887 71264887 single base substitution A T intron_variant SKCA-BR 14 71184572 71184572 single base substitution C T downstream_gene_variant SKCA-BR 14 71185931 71185931 single base substitution C T downstream_gene_variant SKCA-BR 14 71186553 71186553 single base substitution C T downstream_gene_variant SKCA-BR 14 71186887 71186887 single base substitution G A downstream_gene_variant SKCA-BR 14 71187435 71187435 single base substitution A G downstream_gene_variant SKCA-BR 14 71188032 71188032 single base substitution T C downstream_gene_variant SKCA-BR 14 71189419 71189419 single base substitution G A 3_prime_UTR_variant SKCA-BR 14 71191257 71191257 insertion of <=200bp - CA 3_prime_UTR_variant SKCA-BR 14 71191802 71191802 single base substitution G A 3_prime_UTR_variant SKCA-BR 14 71191802 71191802 single base substitution G A downstream_gene_variant SKCA-BR 14 71193633 71193633 single base substitution G A 3_prime_UTR_variant SKCA-BR 14 71193633 71193633 single base substitution G A downstream_gene_variant SKCA-BR 14 71196141 71196141 single base substitution G A 3_prime_UTR_variant SKCA-BR 14 71196141 71196141 single base substitution G A downstream_gene_variant SKCA-BR 14 71196541 71196541 single base substitution G A 3_prime_UTR_variant SKCA-BR 14 71196541 71196541 single base substitution G A downstream_gene_variant SKCA-BR 14 71198077 71198077 single base substitution G A intron_variant SKCA-BR 14 71199239 71199239 single base substitution A G intron_variant SKCA-BR 14 71200328 71200328 single base substitution G A intron_variant SKCA-BR 14 71202983 71202983 single base substitution C T intron_variant SKCA-BR 14 71204980 71204980 single base substitution A C missense_variant L346R 1037T>G SKCA-BR 14 71204980 71204980 single base substitution A C missense_variant L351R 1052T>G SKCA-BR 14 71204980 71204980 single base substitution A C missense_variant L609R 1826T>G SKCA-BR 14 71205600 71205600 single base substitution A G intron_variant SKCA-BR 14 71205871 71205871 single base substitution G A intron_variant SKCA-BR 14 71206176 71206176 single base substitution C T intron_variant SKCA-BR 14 71209559 71209559 single base substitution G A intron_variant SKCA-BR 14 71211992 71211992 single base substitution G A downstream_gene_variant SKCA-BR 14 71211992 71211992 single base substitution G A intron_variant SKCA-BR 14 71213516 71213516 single base substitution C T downstream_gene_variant SKCA-BR 14 71213516 71213516 single base substitution C T intron_variant SKCA-BR 14 71213955 71213955 single base substitution G A downstream_gene_variant SKCA-BR 14 71213955 71213955 single base substitution G A intron_variant SKCA-BR 14 71216067 71216067 single base substitution G A downstream_gene_variant SKCA-BR 14 71216067 71216067 single base substitution G A intron_variant SKCA-BR 14 71216182 71216182 single base substitution G A downstream_gene_variant SKCA-BR 14 71216182 71216182 single base substitution G A intron_variant SKCA-BR 14 71216653 71216653 single base substitution C T exon_variant SKCA-BR 14 71216653 71216653 single base substitution C T missense_variant E120K 358G>A SKCA-BR 14 71216653 71216653 single base substitution C T missense_variant E383K 1147G>A SKCA-BR 14 71216653 71216653 single base substitution C T missense_variant E77K 229G>A SKCA-BR 14 71219150 71219150 single base substitution G C intron_variant SKCA-BR 14 71223650 71223650 single base substitution G A intron_variant SKCA-BR 14 71223650 71223650 single base substitution G A upstream_gene_variant SKCA-BR 14 71224511 71224511 single base substitution C T intron_variant SKCA-BR 14 71224511 71224511 single base substitution C T upstream_gene_variant SKCA-BR 14 71227045 71227045 single base substitution G A intron_variant SKCA-BR 14 71227852 71227852 single base substitution G A 5_prime_UTR_premature_start_codon_gain_variant SKCA-BR 14 71227852 71227852 single base substitution G A synonymous_variant L27L 79C>T SKCA-BR 14 71227852 71227852 single base substitution G A synonymous_variant L290L 868C>T SKCA-BR 14 71228471 71228471 single base substitution T C intron_variant SKCA-BR 14 71229571 71229571 single base substitution A T intron_variant SKCA-BR 14 71232452 71232453 deletion of <=200bp TA - intron_variant SKCA-BR 14 71232462 71232478 deletion of <=200bp AAAAAACAAAAAAAAAC - intron_variant SKCA-BR 14 71232464 71232478 deletion of <=200bp AAAACAAAAAAAAAC - intron_variant SKCA-BR 14 71232467 71232468 deletion of <=200bp AC - intron_variant SKCA-BR 14 71232867 71232867 single base substitution G A intron_variant SKCA-BR 14 71235964 71235964 single base substitution T C intron_variant SKCA-BR 14 71236339 71236339 single base substitution G A intron_variant SKCA-BR 14 71237767 71237767 insertion of <=200bp - CT intron_variant SKCA-BR 14 71237933 71237933 single base substitution G A intron_variant SKCA-BR 14 71238586 71238586 single base substitution G A intron_variant SKCA-BR 14 71243566 71243566 single base substitution T C intron_variant SKCA-BR 14 71244161 71244161 single base substitution G A intron_variant SKCA-BR 14 71245657 71245657 single base substitution G A intron_variant SKCA-BR 14 71245764 71245764 single base substitution G A intron_variant SKCA-BR 14 71246515 71246515 single base substitution C A intron_variant SKCA-BR 14 71246519 71246519 single base substitution G T intron_variant SKCA-BR 14 71254149 71254149 single base substitution T C intron_variant SKCA-BR 14 71254149 71254149 single base substitution T C upstream_gene_variant SKCA-BR 14 71255027 71255027 single base substitution G A intron_variant SKCA-BR 14 71255027 71255027 single base substitution G A upstream_gene_variant SKCA-BR 14 71255104 71255104 single base substitution G A intron_variant SKCA-BR 14 71255104 71255104 single base substitution G A upstream_gene_variant SKCA-BR 14 71255442 71255443 deletion of <=200bp TA - intron_variant SKCA-BR 14 71256897 71256897 single base substitution G A intron_variant SKCA-BR 14 71257009 71257009 single base substitution A G intron_variant SKCA-BR 14 71261606 71261606 single base substitution G A intron_variant SKCA-BR 14 71261707 71261707 insertion of <=200bp - CT intron_variant SKCA-BR 14 71263539 71263539 single base substitution G A intron_variant SKCA-BR 14 71263805 71263805 single base substitution T A intron_variant SKCA-BR 14 71265985 71265985 single base substitution T C intron_variant SKCA-BR 14 71268525 71268525 single base substitution G A intron_variant SKCA-BR 14 71270369 71270369 single base substitution G A intron_variant SKCA-BR 14 71272206 71272206 single base substitution A C intron_variant SKCA-BR 14 71272434 71272434 single base substitution G A intron_variant SKCA-BR 14 71274378 71274378 single base substitution T A intron_variant SKCA-BR 14 71274722 71274722 single base substitution C G intron_variant SKCA-BR 14 71276311 71276311 single base substitution A C upstream_gene_variant SKCA-BR 14 71277227 71277227 single base substitution G A upstream_gene_variant SKCA-BR 14 71280887 71280887 insertion of <=200bp - TA upstream_gene_variant SKCA-BR 14 71280911 71280917 deletion of <=200bp GACTTTT - upstream_gene_variant SKCA-BR 14 71280912 71280919 deletion of <=200bp ACTTTTAC - upstream_gene_variant SKCM-US 14 71197118 71197118 single base substitution G A synonymous_variant I1075I 3225C>T SKCM-US 14 71197118 71197118 single base substitution G A synonymous_variant I1098I 3294C>T SKCM-US 14 71197118 71197118 single base substitution G A synonymous_variant I1112I 3336C>T SKCM-US 14 71197118 71197118 single base substitution G A synonymous_variant I826I 2478C>T SKCM-US 14 71197118 71197118 single base substitution G A synonymous_variant I831I 2493C>T SKCM-US 14 71197228 71197228 single base substitution G A missense_variant P1039S 3115C>T SKCM-US 14 71197228 71197228 single base substitution G A missense_variant P1062S 3184C>T SKCM-US 14 71197228 71197228 single base substitution G A missense_variant P1076S 3226C>T SKCM-US 14 71197228 71197228 single base substitution G A missense_variant P790S 2368C>T SKCM-US 14 71197228 71197228 single base substitution G A missense_variant P795S 2383C>T SKCM-US 14 71197414 71197414 single base substitution T A missense_variant N1000Y 2998A>T SKCM-US 14 71197414 71197414 single base substitution T A missense_variant N1014Y 3040A>T SKCM-US 14 71197414 71197414 single base substitution T A missense_variant N728Y 2182A>T SKCM-US 14 71197414 71197414 single base substitution T A missense_variant N733Y 2197A>T SKCM-US 14 71197414 71197414 single base substitution T A missense_variant N977Y 2929A>T SKCM-US 14 71197432 71197432 single base substitution G A missense_variant R1008W 3022C>T SKCM-US 14 71197432 71197432 single base substitution G A missense_variant R722W 2164C>T SKCM-US 14 71197432 71197432 single base substitution G A missense_variant R727W 2179C>T SKCM-US 14 71197432 71197432 single base substitution G A missense_variant R971W 2911C>T SKCM-US 14 71197432 71197432 single base substitution G A missense_variant R994W 2980C>T SKCM-US 14 71199336 71199336 single base substitution G A missense_variant S645F 1934C>T SKCM-US 14 71199336 71199336 single base substitution G A missense_variant S650F 1949C>T SKCM-US 14 71199336 71199336 single base substitution G A missense_variant S894F 2681C>T SKCM-US 14 71199336 71199336 single base substitution G A missense_variant S917F 2750C>T SKCM-US 14 71199336 71199336 single base substitution G A missense_variant S931F 2792C>T SKCM-US 14 71199392 71199392 single base substitution G A synonymous_variant P626P 1878C>T SKCM-US 14 71199392 71199392 single base substitution G A synonymous_variant P631P 1893C>T SKCM-US 14 71199392 71199392 single base substitution G A synonymous_variant P875P 2625C>T SKCM-US 14 71199392 71199392 single base substitution G A synonymous_variant P898P 2694C>T SKCM-US 14 71199392 71199392 single base substitution G A synonymous_variant P912P 2736C>T SKCM-US 14 71199412 71199412 single base substitution G A missense_variant P620S 1858C>T SKCM-US 14 71199412 71199412 single base substitution G A missense_variant P625S 1873C>T SKCM-US 14 71199412 71199412 single base substitution G A missense_variant P869S 2605C>T SKCM-US 14 71199412 71199412 single base substitution G A missense_variant P892S 2674C>T SKCM-US 14 71199412 71199412 single base substitution G A missense_variant P906S 2716C>T SKCM-US 14 71199482 71199482 single base substitution C T synonymous_variant E596E 1788G>A SKCM-US 14 71199482 71199482 single base substitution C T synonymous_variant E601E 1803G>A SKCM-US 14 71199482 71199482 single base substitution C T synonymous_variant E845E 2535G>A SKCM-US 14 71199482 71199482 single base substitution C T synonymous_variant E868E 2604G>A SKCM-US 14 71199482 71199482 single base substitution C T synonymous_variant E882E 2646G>A SKCM-US 14 71199520 71199520 single base substitution C T missense_variant E584K 1750G>A SKCM-US 14 71199520 71199520 single base substitution C T missense_variant E589K 1765G>A SKCM-US 14 71199520 71199520 single base substitution C T missense_variant E833K 2497G>A SKCM-US 14 71199520 71199520 single base substitution C T missense_variant E856K 2566G>A SKCM-US 14 71199520 71199520 single base substitution C T missense_variant E870K 2608G>A SKCM-US 14 71199522 71199522 single base substitution T C missense_variant D583G 1748A>G SKCM-US 14 71199522 71199522 single base substitution T C missense_variant D588G 1763A>G SKCM-US 14 71199522 71199522 single base substitution T C missense_variant D832G 2495A>G SKCM-US 14 71199522 71199522 single base substitution T C missense_variant D855G 2564A>G SKCM-US 14 71199522 71199522 single base substitution T C missense_variant D869G 2606A>G SKCM-US 14 71199523 71199523 single base substitution C T missense_variant D583N 1747G>A SKCM-US 14 71199523 71199523 single base substitution C T missense_variant D588N 1762G>A SKCM-US 14 71199523 71199523 single base substitution C T missense_variant D832N 2494G>A SKCM-US 14 71199523 71199523 single base substitution C T missense_variant D855N 2563G>A SKCM-US 14 71199523 71199523 single base substitution C T missense_variant D869N 2605G>A SKCM-US 14 71199552 71199552 single base substitution G A missense_variant S573F 1718C>T SKCM-US 14 71199552 71199552 single base substitution G A missense_variant S578F 1733C>T SKCM-US 14 71199552 71199552 single base substitution G A missense_variant S822F 2465C>T SKCM-US 14 71199552 71199552 single base substitution G A missense_variant S845F 2534C>T SKCM-US 14 71199552 71199552 single base substitution G A missense_variant S859F 2576C>T SKCM-US 14 71199670 71199670 single base substitution G A missense_variant R534W 1600C>T SKCM-US 14 71199670 71199670 single base substitution G A missense_variant R539W 1615C>T SKCM-US 14 71199670 71199670 single base substitution G A missense_variant R783W 2347C>T SKCM-US 14 71199670 71199670 single base substitution G A missense_variant R806W 2416C>T SKCM-US 14 71199670 71199670 single base substitution G A missense_variant R820W 2458C>T SKCM-US 14 71199749 71199749 single base substitution G A synonymous_variant P507P 1521C>T SKCM-US 14 71199749 71199749 single base substitution G A synonymous_variant P512P 1536C>T SKCM-US 14 71199749 71199749 single base substitution G A synonymous_variant P756P 2268C>T SKCM-US 14 71199749 71199749 single base substitution G A synonymous_variant P779P 2337C>T SKCM-US 14 71199749 71199749 single base substitution G A synonymous_variant P793P 2379C>T SKCM-US 14 71199751 71199751 single base substitution G A missense_variant P507S 1519C>T SKCM-US 14 71199751 71199751 single base substitution G A missense_variant P512S 1534C>T SKCM-US 14 71199751 71199751 single base substitution G A missense_variant P756S 2266C>T SKCM-US 14 71199751 71199751 single base substitution G A missense_variant P779S 2335C>T SKCM-US 14 71199751 71199751 single base substitution G A missense_variant P793S 2377C>T SKCM-US 14 71199934 71199934 single base substitution G A missense_variant H446Y 1336C>T SKCM-US 14 71199934 71199934 single base substitution G A missense_variant H451Y 1351C>T SKCM-US 14 71199934 71199934 single base substitution G A missense_variant H695Y 2083C>T SKCM-US 14 71199934 71199934 single base substitution G A missense_variant H718Y 2152C>T SKCM-US 14 71199934 71199934 single base substitution G A missense_variant H732Y 2194C>T SKCM-US 14 71199970 71199970 single base substitution C T missense_variant G434R 1300G>A SKCM-US 14 71199970 71199970 single base substitution C T missense_variant G439R 1315G>A SKCM-US 14 71199970 71199970 single base substitution C T missense_variant G683R 2047G>A SKCM-US 14 71199970 71199970 single base substitution C T missense_variant G706R 2116G>A SKCM-US 14 71199970 71199970 single base substitution C T missense_variant G720R 2158G>A SKCM-US 14 71200008 71200008 single base substitution G A missense_variant S421L 1262C>T SKCM-US 14 71200008 71200008 single base substitution G A missense_variant S426L 1277C>T SKCM-US 14 71200008 71200008 single base substitution G A missense_variant S670L 2009C>T SKCM-US 14 71200008 71200008 single base substitution G A missense_variant S693L 2078C>T SKCM-US 14 71200008 71200008 single base substitution G A missense_variant S707L 2120C>T SKCM-US 14 71202707 71202707 single base substitution G A intron_variant SKCM-US 14 71202707 71202707 single base substitution G A synonymous_variant T628T 1884C>T SKCM-US 14 71202744 71202744 single base substitution G A intron_variant SKCM-US 14 71202744 71202744 single base substitution G A missense_variant S616F 1847C>T SKCM-US 14 71204985 71204985 single base substitution C T synonymous_variant K344K 1032G>A SKCM-US 14 71204985 71204985 single base substitution C T synonymous_variant K349K 1047G>A SKCM-US 14 71204985 71204985 single base substitution C T synonymous_variant K607K 1821G>A SKCM-US 14 71205035 71205035 single base substitution C T missense_variant A328T 982G>A SKCM-US 14 71205035 71205035 single base substitution C T missense_variant A333T 997G>A SKCM-US 14 71205035 71205035 single base substitution C T missense_variant A591T 1771G>A SKCM-US 14 71205045 71205045 single base substitution C T synonymous_variant E324E 972G>A SKCM-US 14 71205045 71205045 single base substitution C T synonymous_variant E329E 987G>A SKCM-US 14 71205045 71205045 single base substitution C T synonymous_variant E587E 1761G>A SKCM-US 14 71206780 71206780 single base substitution G A missense_variant P251S 751C>T SKCM-US 14 71206780 71206780 single base substitution G A missense_variant P294S 880C>T SKCM-US 14 71206780 71206780 single base substitution G A missense_variant P557S 1669C>T SKCM-US 14 71206851 71206851 single base substitution G T missense_variant S227Y 680C>A SKCM-US 14 71206851 71206851 single base substitution G T missense_variant S270Y 809C>A SKCM-US 14 71206851 71206851 single base substitution G T missense_variant S533Y 1598C>A SKCM-US 14 71209102 71209102 single base substitution C A missense_variant K205N 615G>T SKCM-US 14 71209102 71209102 single base substitution C A missense_variant K248N 744G>T SKCM-US 14 71209102 71209102 single base substitution C A missense_variant K511N 1533G>T SKCM-US 14 71209195 71209195 single base substitution C T synonymous_variant L174L 522G>A SKCM-US 14 71209195 71209195 single base substitution C T synonymous_variant L217L 651G>A SKCM-US 14 71209195 71209195 single base substitution C T synonymous_variant L480L 1440G>A SKCM-US 14 71209197 71209197 single base substitution G A synonymous_variant L174L 520C>T SKCM-US 14 71209197 71209197 single base substitution G A synonymous_variant L217L 649C>T SKCM-US 14 71209197 71209197 single base substitution G A synonymous_variant L480L 1438C>T SKCM-US 14 71209278 71209278 single base substitution G A missense_variant R147W 439C>T SKCM-US 14 71209278 71209278 single base substitution G A missense_variant R190W 568C>T SKCM-US 14 71209278 71209278 single base substitution G A missense_variant R453W 1357C>T SKCM-US 14 71209294 71209294 single base substitution C T stop_gained W141* 423G>A SKCM-US 14 71209294 71209294 single base substitution C T stop_gained W184* 552G>A SKCM-US 14 71209294 71209294 single base substitution C T stop_gained W447* 1341G>A SKCM-US 14 71215635 71215635 single base substitution C T downstream_gene_variant SKCM-US 14 71215635 71215635 single base substitution C T missense_variant E107K 319G>A SKCM-US 14 71215635 71215635 single base substitution C T missense_variant E150K 448G>A SKCM-US 14 71215635 71215635 single base substitution C T missense_variant E413K 1237G>A SKCM-US 14 71216688 71216688 single base substitution G A exon_variant SKCM-US 14 71216688 71216688 single base substitution G A missense_variant P108L 323C>T SKCM-US 14 71216688 71216688 single base substitution G A missense_variant P371L 1112C>T SKCM-US 14 71216688 71216688 single base substitution G A missense_variant P65L 194C>T SKCM-US 14 71216738 71216738 single base substitution G A exon_variant SKCM-US 14 71216738 71216738 single base substitution G A synonymous_variant G354G 1062C>T SKCM-US 14 71216738 71216738 single base substitution G A synonymous_variant G48G 144C>T SKCM-US 14 71216738 71216738 single base substitution G A synonymous_variant G91G 273C>T SKCM-US 14 71216739 71216739 single base substitution C T exon_variant SKCM-US 14 71216739 71216739 single base substitution C T missense_variant G354D 1061G>A SKCM-US 14 71216739 71216739 single base substitution C T missense_variant G48D 143G>A SKCM-US 14 71216739 71216739 single base substitution C T missense_variant G91D 272G>A SKCM-US 14 71227756 71227756 single base substitution G A missense_variant R16W 46C>T SKCM-US 14 71227756 71227756 single base substitution G A missense_variant R322W 964C>T SKCM-US 14 71227756 71227756 single base substitution G A missense_variant R59W 175C>T SKCM-US 14 71227825 71227825 single base substitution G A 5_prime_UTR_premature_start_codon_gain_variant SKCM-US 14 71227825 71227825 single base substitution G A missense_variant R299W 895C>T SKCM-US 14 71227825 71227825 single base substitution G A missense_variant R36W 106C>T SKCM-US 14 71267481 71267481 single base substitution G A synonymous_variant I241I 723C>T SKCM-US 14 71267489 71267489 single base substitution G A missense_variant P239S 715C>T SKCM-US 14 71267526 71267526 single base substitution T C synonymous_variant G226G 678A>G SKCM-US 14 71267675 71267675 single base substitution G A missense_variant P177S 529C>T SKCM-US 14 71267682 71267682 single base substitution G A synonymous_variant R174R 522C>T SKCM-US 14 71267726 71267726 single base substitution G A missense_variant R160C 478C>T SKCM-US 14 71267772 71267772 single base substitution G A synonymous_variant L144L 432C>T SKCM-US 14 71275762 71275764 deletion of <=200bp CCG - disruptive_inframe_deletion AV42V STAD-US 14 71199485 71199485 single base substitution G A synonymous_variant V595V 1785C>T STAD-US 14 71199485 71199485 single base substitution G A synonymous_variant V600V 1800C>T STAD-US 14 71199485 71199485 single base substitution G A synonymous_variant V844V 2532C>T STAD-US 14 71199485 71199485 single base substitution G A synonymous_variant V867V 2601C>T STAD-US 14 71199485 71199485 single base substitution G A synonymous_variant V881V 2643C>T STAD-US 14 71199761 71199761 single base substitution G A synonymous_variant C503C 1509C>T STAD-US 14 71199761 71199761 single base substitution G A synonymous_variant C508C 1524C>T STAD-US 14 71199761 71199761 single base substitution G A synonymous_variant C752C 2256C>T STAD-US 14 71199761 71199761 single base substitution G A synonymous_variant C775C 2325C>T STAD-US 14 71199761 71199761 single base substitution G A synonymous_variant C789C 2367C>T STAD-US 14 71199959 71199959 single base substitution G A synonymous_variant G437G 1311C>T STAD-US 14 71199959 71199959 single base substitution G A synonymous_variant G442G 1326C>T STAD-US 14 71199959 71199959 single base substitution G A synonymous_variant G686G 2058C>T STAD-US 14 71199959 71199959 single base substitution G A synonymous_variant G709G 2127C>T STAD-US 14 71199959 71199959 single base substitution G A synonymous_variant G723G 2169C>T STAD-US 14 71200020 71200020 single base substitution C T missense_variant R417H 1250G>A STAD-US 14 71200020 71200020 single base substitution C T missense_variant R422H 1265G>A STAD-US 14 71200020 71200020 single base substitution C T missense_variant R666H 1997G>A STAD-US 14 71200020 71200020 single base substitution C T missense_variant R689H 2066G>A STAD-US 14 71200020 71200020 single base substitution C T missense_variant R703H 2108G>A STAD-US 14 71209080 71209080 single base substitution T C missense_variant S213G 637A>G STAD-US 14 71209080 71209080 single base substitution T C missense_variant S256G 766A>G STAD-US 14 71209080 71209080 single base substitution T C missense_variant S519G 1555A>G STAD-US 14 71209259 71209259 single base substitution T G missense_variant K153T 458A>C STAD-US 14 71209259 71209259 single base substitution T G missense_variant K196T 587A>C STAD-US 14 71209259 71209259 single base substitution T G missense_variant K459T 1376A>C STAD-US 14 71215717 71215717 single base substitution G A downstream_gene_variant STAD-US 14 71215717 71215717 single base substitution G A synonymous_variant C122C 366C>T STAD-US 14 71215717 71215717 single base substitution G A synonymous_variant C385C 1155C>T STAD-US 14 71215717 71215717 single base substitution G A synonymous_variant C79C 237C>T THCA-SA 14 71199452 71199452 single base substitution G A synonymous_variant N606N 1818C>T THCA-SA 14 71199452 71199452 single base substitution G A synonymous_variant N611N 1833C>T THCA-SA 14 71199452 71199452 single base substitution G A synonymous_variant N855N 2565C>T THCA-SA 14 71199452 71199452 single base substitution G A synonymous_variant N878N 2634C>T THCA-SA 14 71199452 71199452 single base substitution G A synonymous_variant N892N 2676C>T THCA-SA 14 71199992 71199992 single base substitution G T stop_gained Y426* 1278C>A THCA-SA 14 71199992 71199992 single base substitution G T stop_gained Y431* 1293C>A THCA-SA 14 71199992 71199992 single base substitution G T stop_gained Y675* 2025C>A THCA-SA 14 71199992 71199992 single base substitution G T stop_gained Y698* 2094C>A THCA-SA 14 71199992 71199992 single base substitution G T stop_gained Y712* 2136C>A THCA-SA 14 71201179 71201179 single base substitution C G synonymous_variant S364S 1092G>C THCA-SA 14 71201179 71201179 single base substitution C G synonymous_variant S369S 1107G>C THCA-SA 14 71201179 71201179 single base substitution C G synonymous_variant S627S 1881G>C THCA-SA 14 71201179 71201179 single base substitution C G synonymous_variant S650S 1950G>C THCA-SA 14 71201192 71201192 single base substitution T C missense_variant Y360C 1079A>G THCA-SA 14 71201192 71201192 single base substitution T C missense_variant Y365C 1094A>G THCA-SA 14 71201192 71201192 single base substitution T C missense_variant Y623C 1868A>G THCA-SA 14 71201192 71201192 single base substitution T C missense_variant Y646C 1937A>G THCA-SA 14 71204973 71204973 single base substitution C T synonymous_variant S348S 1044G>A THCA-SA 14 71204973 71204973 single base substitution C T synonymous_variant S353S 1059G>A THCA-SA 14 71204973 71204973 single base substitution C T synonymous_variant S611S 1833G>A UCEC-US 14 71197167 71197167 single base substitution G A missense_variant P1059L 3176C>T UCEC-US 14 71197167 71197167 single base substitution G A missense_variant P1082L 3245C>T UCEC-US 14 71197167 71197167 single base substitution G A missense_variant P1096L 3287C>T UCEC-US 14 71197167 71197167 single base substitution G A missense_variant P810L 2429C>T UCEC-US 14 71197167 71197167 single base substitution G A missense_variant P815L 2444C>T UCEC-US 14 71197424 71197424 single base substitution A G synonymous_variant R1010R 3030T>C UCEC-US 14 71197424 71197424 single base substitution A G synonymous_variant R724R 2172T>C UCEC-US 14 71197424 71197424 single base substitution A G synonymous_variant R729R 2187T>C UCEC-US 14 71197424 71197424 single base substitution A G synonymous_variant R973R 2919T>C UCEC-US 14 71197424 71197424 single base substitution A G synonymous_variant R996R 2988T>C UCEC-US 14 71197583 71197583 single base substitution T C splice_acceptor_variant UCEC-US 14 71199563 71199563 single base substitution G A synonymous_variant S569S 1707C>T UCEC-US 14 71199563 71199563 single base substitution G A synonymous_variant S574S 1722C>T UCEC-US 14 71199563 71199563 single base substitution G A synonymous_variant S818S 2454C>T UCEC-US 14 71199563 71199563 single base substitution G A synonymous_variant S841S 2523C>T UCEC-US 14 71199563 71199563 single base substitution G A synonymous_variant S855S 2565C>T UCEC-US 14 71199707 71199707 single base substitution T C synonymous_variant R521R 1563A>G UCEC-US 14 71199707 71199707 single base substitution T C synonymous_variant R526R 1578A>G UCEC-US 14 71199707 71199707 single base substitution T C synonymous_variant R770R 2310A>G UCEC-US 14 71199707 71199707 single base substitution T C synonymous_variant R793R 2379A>G UCEC-US 14 71199707 71199707 single base substitution T C synonymous_variant R807R 2421A>G UCEC-US 14 71199829 71199829 single base substitution G T missense_variant L481M 1441C>A UCEC-US 14 71199829 71199829 single base substitution G T missense_variant L486M 1456C>A UCEC-US 14 71199829 71199829 single base substitution G T missense_variant L730M 2188C>A UCEC-US 14 71199829 71199829 single base substitution G T missense_variant L753M 2257C>A UCEC-US 14 71199829 71199829 single base substitution G T missense_variant L767M 2299C>A UCEC-US 14 71200020 71200020 single base substitution C T missense_variant R417H 1250G>A UCEC-US 14 71200020 71200020 single base substitution C T missense_variant R422H 1265G>A UCEC-US 14 71200020 71200020 single base substitution C T missense_variant R666H 1997G>A UCEC-US 14 71200020 71200020 single base substitution C T missense_variant R689H 2066G>A UCEC-US 14 71200020 71200020 single base substitution C T missense_variant R703H 2108G>A UCEC-US 14 71205030 71205030 single base substitution T C synonymous_variant P329P 987A>G UCEC-US 14 71205030 71205030 single base substitution T C synonymous_variant P334P 1002A>G UCEC-US 14 71205030 71205030 single base substitution T C synonymous_variant P592P 1776A>G UCEC-US 14 71206803 71206803 single base substitution G A missense_variant P243L 728C>T UCEC-US 14 71206803 71206803 single base substitution G A missense_variant P286L 857C>T UCEC-US 14 71206803 71206803 single base substitution G A missense_variant P549L 1646C>T UCEC-US 14 71206811 71206811 single base substitution G T synonymous_variant R240R 720C>A UCEC-US 14 71206811 71206811 single base substitution G T synonymous_variant R283R 849C>A UCEC-US 14 71206811 71206811 single base substitution G T synonymous_variant R546R 1638C>A UCEC-US 14 71209301 71209301 single base substitution C T missense_variant R139H 416G>A UCEC-US 14 71209301 71209301 single base substitution C T missense_variant R182H 545G>A UCEC-US 14 71209301 71209301 single base substitution C T missense_variant R445H 1334G>A UCEC-US 14 71215624 71215624 single base substitution C T downstream_gene_variant UCEC-US 14 71215624 71215624 single base substitution C T synonymous_variant K110K 330G>A UCEC-US 14 71215624 71215624 single base substitution C T synonymous_variant K153K 459G>A UCEC-US 14 71215624 71215624 single base substitution C T synonymous_variant K416K 1248G>A

Mutation - COSMIC Sample Name Mutation ID Mutation CDS Mutation AA Mutation Description Mutation Genome Position Mutation Strand TCGA-B5-A11E-01 COSM957423 c.2299C>A p.L767M Substitution - Missense 14:70733112-70733112 - KM12 COSM2136256 c.3120A>G p.T1040T Substitution - coding silent 14:70730617-70730617 - SH-9161 COSM4148218 c.1833G>A p.S611S Substitution - coding silent 14:70738256-70738256 - TCGA-D3-A3MU-06 COSM3497602 c.478C>T p.R160C Substitution - Missense 14:70801009-70801009 - 219 COSM3497602 c.478C>T p.R160C Substitution - Missense 14:70801009-70801009 - SH-9161 COSM3999363 c.1151-8C>T p.? Unknown 14:70749012-70749012 - TCGA-J9-A52C-01 COSM4877076 c.1119G>A p.T373T Substitution - coding silent 14:70749964-70749964 - sysucc-311T COSM5478741 c.1094A>C p.K365T Substitution - Missense 14:70749989-70749989 - SH-102782 COSM3999363 c.1151-8C>T p.? Unknown 14:70749012-70749012 - DM16 COSM5609316 c.680C>T p.P227L Substitution - Missense 14:70800807-70800807 - DLD1 COSM4247424 c.3043C>T p.R1015W Substitution - Missense 14:70730694-70730694 - TCGA-AA-3492-01 COSM1370859 c.965G>A p.R322Q Substitution - Missense 14:70761038-70761038 - TCGA-ER-A19J-06 COSM3497587 c.1761G>A p.E587E Substitution - coding silent 14:70738328-70738328 - CSCC-18-T COSM4537322 c.2406G>A p.R802R Substitution - coding silent 14:70733005-70733005 - YUPAER COSM5382582 c.3203C>T p.P1068L Substitution - Missense 14:70730534-70730534 - T3021 COSM4700415 c.1489delC p.R497fs*2 Deletion - Frameshift 14:70742429-70742429 - EGC15 COSM5054071 c.800G>A p.R267H Substitution - Missense 14:70800687-70800687 - SNU-175 COSM2136304 c.1445G>A p.R482Q Substitution - Missense 14:70742473-70742473 - I2L-P19Ta-Tumor-Biopsy COSM2136265 c.2900G>A p.R967Q Substitution - Missense 14:70730837-70730837 - PD1403a COSM20543 c.1399C>T p.R467C Substitution - Missense 14:70742519-70742519 - CSCC-44-T COSM4535142 c.2159G>C p.G720A Substitution - Missense 14:70733252-70733252 - TCGA-29-2432-01 COSM1323405 c.342C>T p.R114R Substitution - coding silent 14:70808830-70808830 - TCGA-F5-6864-01 COSM3420001 c.3101C>A p.P1034Q Substitution - Missense 14:70730636-70730636 - TCGA-FW-A3R5-06 COSM3886307 c.529C>T p.P177S Substitution - Missense 14:70800958-70800958 - 17242 COSM48535 c.1844G>C p.G615A Substitution - Missense 14:70738245-70738245 - CHEWS005 COSM252596 c.3028C>T p.R1010C Substitution - Missense 14:70730709-70730709 - B43-Tumor COSM3931976 c.2279A>C p.H760P Substitution - Missense 14:70733132-70733132 - SH-3133 COSM5019097 c.2676C>T p.N892N Substitution - coding silent 14:70732735-70732735 - PD1403a COSM20543 c.1399C>T p.R467C Substitution - Missense 14:70742519-70742519 - TCGA-A3-3380-01 COSM1493308 c.1326+2T>A p.? Unknown 14:70748827-70748827 - TCGA-B7-5818-01 COSM4052112 c.1155C>T p.C385C Substitution - coding silent 14:70749000-70749000 - PT55 COSM5942588 c.2726C>T p.S909F Substitution - Missense 14:70732685-70732685 - TCGA-A6-6780-01 COSM1370857 c.1444C>T p.R482W Substitution - Missense 14:70742474-70742474 - PD4125a COSM162373 c.756G>A p.G252G Substitution - coding silent 14:70800731-70800731 - 40M COSM5585721 c.2653C>T p.P885S Substitution - Missense 14:70732758-70732758 - TCGA-G4-6309-01 COSM1370854 c.3088C>T p.R1030C Substitution - Missense 14:70730649-70730649 - LC_S19 COSM1188857 c.2176C>T p.P726S Substitution - Missense 14:70733235-70733235 - 721LT COSM4386561 c.3175G>A p.E1059K Substitution - Missense 14:70730562-70730562 - TCGA-CZ-5989-01 COSM470191 c.615C>T p.A205A Substitution - coding silent 14:70800872-70800872 - CHC1531T COSM4804771 c.3346T>G p.F1116V Substitution - Missense 14:70730391-70730391 - MOLT-4 COSM1678105 c.1793C>T p.T598M Substitution - Missense 14:70738296-70738296 - T155 COSM1177397 c.585C>T p.F195F Substitution - coding silent 14:70800902-70800902 - 2492702 COSM433317 c.496G>A p.D166N Substitution - Missense 14:70800991-70800991 - TCGA-EE-A2MT-06 COSM3497585 c.1847C>T p.S616F Substitution - Missense 14:70736027-70736027 - TCGA-A2-A0T5-01 COSM3815222 c.1660A>C p.T554P Substitution - Missense 14:70740072-70740072 - U2940 COSM5621210 c.925G>A p.A309T Substitution - Missense 14:70761078-70761078 - SH-5693 COSM4148218 c.1833G>A p.S611S Substitution - coding silent 14:70738256-70738256 - 41T COSM3711523 c.2403C>T p.A801A Substitution - coding silent 14:70733008-70733008 - CSCC-31-T COSM2136251 c.3243C>T p.L1081L Substitution - coding silent 14:70730494-70730494 - TCGA-FW-A3TU-06 COSM3497597 c.964C>T p.R322W Substitution - Missense 14:70761039-70761039 - DM28 COSM5611327 c.2305_2306GG>AA p.G769N Substitution - Missense 14:70733105-70733106 - TCGA-EE-A2MI-06 COSM3497596 c.1061G>A p.G354D Substitution - Missense 14:70750022-70750022 - DM58 COSM5609326 c.1303G>A p.D435N Substitution - Missense 14:70748852-70748852 - SNUH_G16_S1 COSM3999362 c.2647G>C p.A883P Substitution - Missense 14:70732764-70732764 - CSCC-30-T COSM4468762 c.1560C>T p.L520L Substitution - coding silent 14:70742358-70742358 - TCGA-EE-A3AB-06 COSM3497576 c.2646G>A p.E882E Substitution - coding silent 14:70732765-70732765 - TCGA-EE-A29D-06 COSM3497586 c.1771G>A p.A591T Substitution - Missense 14:70738318-70738318 - DM37 COSM5609322 c.1886C>T p.P629L Substitution - Missense 14:70735988-70735988 - CP66-MEL COSM21063 c.737C>T p.A246V Substitution - Missense 14:70800750-70800750 - pfg008T COSM20543 c.1399C>T p.R467C Substitution - Missense 14:70742519-70742519 - TCGA-22-4607-01 COSM698803 c.3237G>A p.R1079R Substitution - coding silent 14:70730500-70730500 - DM98 COSM5585721 c.2653C>T p.P885S Substitution - Missense 14:70732758-70732758 - TCGA-EE-A2MR-06 COSM3497582 c.2194C>T p.H732Y Substitution - Missense 14:70733217-70733217 - DM96 COSM5609330 c.609C>T p.I203I Substitution - coding silent 14:70800878-70800878 - TCGA-G4-6309-01 COSM1370855 c.2226G>A p.T742T Substitution - coding silent 14:70733185-70733185 - CHC1531T COSM4804803 c.3355T>C p.*1119Q Nonstop extension 14:70730382-70730382 - 587342 COSM1214458 c.116C>A p.A39E Substitution - Missense 14:70809056-70809056 - TCGA-CG-5723-01 COSM957424 c.2108G>A p.R703H Substitution - Missense 14:70733303-70733303 - CRC-06T COSM5456457 c.3023G>A p.R1008Q Substitution - Missense 14:70730714-70730714 - Pat_70_A COSM5848449 c.1102C>T p.L368F Substitution - Missense 14:70749981-70749981 - HCT-15 COSM1678106 c.1267C>T p.Q423* Substitution - Nonsense 14:70748888-70748888 - TCGA-AM-5820-01 COSM3690174 c.470A>T p.K157M Substitution - Missense 14:70801017-70801017 - CHC1531T COSM4804803 c.3355T>C p.*1119Q Nonstop extension 14:70730382-70730382 - TCGA-FW-A3R5-06 COSM3886305 c.2120C>T p.S707L Substitution - Missense 14:70733291-70733291 - TCGA-BR-4184-01 COSM4052107 c.2643C>T p.V881V Substitution - coding silent 14:70732768-70732768 - TCGA-22-5472-01 COSM698802 c.2205C>A p.P735P Substitution - coding silent 14:70733206-70733206 - CSCC-19-T COSM4551344 c.526G>A p.D176N Substitution - Missense 14:70800961-70800961 - 46M COSM5588245 c.2558C>T p.S853F Substitution - Missense 14:70732853-70732853 - TCGA-06-0168-01 COSM1370857 c.1444C>T p.R482W Substitution - Missense 14:70742474-70742474 - TCGA-EA-A5ZD-01 COSM3356709 c.3022C>T p.R1008W Substitution - Missense 14:70730715-70730715 - 2012_Recurrent COSM5346108 c.2503C>T p.P835S Substitution - Missense 14:70732908-70732908 - CN-AML-NR-08-Dx COSM3999363 c.1151-8C>T p.? Unknown 14:70749012-70749012 - S12-17796-TP COSM4990712 c.993T>G p.D331E Substitution - Missense 14:70761010-70761010 - DM98 COSM5609332 c.1326G>A p.K442K Substitution - coding silent 14:70748829-70748829 - C086 COSM4551344 c.526G>A p.D176N Substitution - Missense 14:70800961-70800961 - PACA50 COSM1158234 c.2459G>A p.R820Q Substitution - Missense 14:70732952-70732952 - DM45 COSM5609324 c.1897C>T p.P633S Substitution - Missense 14:70735977-70735977 - TCGA-DS-A0VK-01 COSM459120 c.775G>A p.E259K Substitution - Missense 14:70800712-70800712 - SH-4435 COSM5019097 c.2676C>T p.N892N Substitution - coding silent 14:70732735-70732735 - SH-2871 COSM5019097 c.2676C>T p.N892N Substitution - coding silent 14:70732735-70732735 - SH-7282 COSM5019097 c.2676C>T p.N892N Substitution - coding silent 14:70732735-70732735 - C709 COSM4443864 c.1405G>T p.E469* Substitution - Nonsense 14:70742513-70742513 - TCGA-ER-A194-01 COSM3497593 c.1357C>T p.R453W Substitution - Missense 14:70742561-70742561 - MO_1215 COSM5561163 c.1872T>C p.N624N Substitution - coding silent 14:70736002-70736002 - T3255 COSM4700418 c.426G>A p.A142A Substitution - coding silent 14:70801061-70801061 - SH-1362 COSM5019097 c.2676C>T p.N892N Substitution - coding silent 14:70732735-70732735 - CCRF-CEM COSM1678107 c.1099G>A p.A367T Substitution - Missense 14:70749984-70749984 - DM2 COSM5611326 c.1253_1254CC>AT p.S418Y Substitution - Missense 14:70748901-70748902 - LUAD-B01811 COSM333961 c.2175C>T p.G725G Substitution - coding silent 14:70733236-70733236 - HCT15 COSM4247424 c.3043C>T p.R1015W Substitution - Missense 14:70730694-70730694 - TCGA-A8-A09M-01 COSM433316 c.2917C>G p.P973A Substitution - Missense 14:70730820-70730820 - 2492703 COSM433317 c.496G>A p.D166N Substitution - Missense 14:70800991-70800991 - SH-1641 COSM5019097 c.2676C>T p.N892N Substitution - coding silent 14:70732735-70732735 - pfg181T COSM1214458 c.116C>A p.A39E Substitution - Missense 14:70809056-70809056 - YUWIA COSM1370854 c.3088C>T p.R1030C Substitution - Missense 14:70730649-70730649 - S02289 COSM5685962 c.3219G>T p.P1073P Substitution - coding silent 14:70730518-70730518 - SH-3776 COSM4148218 c.1833G>A p.S611S Substitution - coding silent 14:70738256-70738256 - T3225 COSM4700418 c.426G>A p.A142A Substitution - coding silent 14:70801061-70801061 - 2492708 COSM5718240 c.2534C>T p.S845F Substitution - Missense 14:70732877-70732877 - S12-11594-TP COSM4990714 c.72A>G p.G24G Substitution - coding silent 14:70809100-70809100 - TCGA-AP-A059-01 COSM957427 c.1638C>A p.R546R Substitution - coding silent 14:70740094-70740094 - PTC-7C COSM4148218 c.1833G>A p.S611S Substitution - coding silent 14:70738256-70738256 - SH-3776 COSM5019097 c.2676C>T p.N892N Substitution - coding silent 14:70732735-70732735 - TCGA-AM-5820-01 COSM3754077 c.1950G>C p.S650S Substitution - coding silent 14:70734462-70734462 - TCGA-EE-A20C-06 COSM3497595 c.1237G>A p.E413K Substitution - Missense 14:70748918-70748918 - LUAD-S01357 COSM386634 c.1222G>A p.E408K Substitution - Missense 14:70748933-70748933 - CSCC-31-T COSM4548062 c.438G>A p.L146L Substitution - coding silent 14:70801049-70801049 - SH-0348 COSM3999363 c.1151-8C>T p.? Unknown 14:70749012-70749012 - Pat_28_B COSM111673 c.113_115delAGG p.E38delE Deletion - In frame 14:70809057-70809059 - H1155 COSM1195797 c.3167C>T p.T1056I Substitution - Missense 14:70730570-70730570 - WM3211 COSM3727210 c.2378C>T p.P793L Substitution - Missense 14:70733033-70733033 - ME044T COSM229260 c.1687C>T p.Q563* Substitution - Nonsense 14:70740045-70740045 - I2L-P19Ta-Tumor-Organoid COSM2136265 c.2900G>A p.R967Q Substitution - Missense 14:70730837-70730837 - 587306 COSM1214456 c.2798G>T p.G933V Substitution - Missense 14:70732613-70732613 - LUAD-F00162 COSM366154 c.2651C>T p.P884L Substitution - Missense 14:70732760-70732760 - CSCC-11-T COSM2136247 c.3320C>T p.P1107L Substitution - Missense 14:70730417-70730417 - DM96 COSM5609331 c.2555C>T p.S852F Substitution - Missense 14:70732856-70732856 - TCGA-LP-A5U2-01 COSM4833748 c.648C>G p.L216L Substitution - coding silent 14:70800839-70800839 - TCGA-EE-A29Q-06 COSM3497580 c.2576C>T p.S859F Substitution - Missense 14:70732835-70732835 - SH-9161 COSM5019097 c.2676C>T p.N892N Substitution - coding silent 14:70732735-70732735 - TCGA-AP-A0LM-01 COSM957418 c.3287C>T p.P1096L Substitution - Missense 14:70730450-70730450 - SH-4435 COSM4148218 c.1833G>A p.S611S Substitution - coding silent 14:70738256-70738256 - ESO-859 COSM1239399 c.2458C>T p.R820W Substitution - Missense 14:70732953-70732953 - TCGA-BR-A4QL-01 COSM4052108 c.2367C>T p.C789C Substitution - coding silent 14:70733044-70733044 - SH-8559 COSM5019097 c.2676C>T p.N892N Substitution - coding silent 14:70732735-70732735 - TCGA-FS-A1ZW-06 COSM3497579 c.2605G>A p.D869N Substitution - Missense 14:70732806-70732806 - DM18 COSM1177397 c.585C>T p.F195F Substitution - coding silent 14:70800902-70800902 - TCGA-AP-A051-01 COSM957420 c.2873-2A>G p.? Unknown 14:70730866-70730866 - 2334199 COSM321577 c.2975A>G p.Q992R Substitution - Missense 14:70730762-70730762 - TCGA-33-4566-01 COSM698799 c.1303G>T p.D435Y Substitution - Missense 14:70748852-70748852 - PD3191a COSM1658963 c.425C>T p.A142V Substitution - Missense 14:70801062-70801062 - S02219 COSM5675609 c.374delG p.G125fs*13 Deletion - Frameshift 14:70808798-70808798 - pfg008T COSM20543 c.1399C>T p.R467C Substitution - Missense 14:70742519-70742519 - YUFLA COSM1685713 c.2274_2289del16 p.H759fs*16 Deletion - Frameshift 14:70733122-70733137 - HCT8 COSM4247424 c.3043C>T p.R1015W Substitution - Missense 14:70730694-70730694 - Pat_70_B COSM5848449 c.1102C>T p.L368F Substitution - Missense 14:70749981-70749981 - TCGA-13-1505-01 COSM111673 c.113_115delAGG p.E38delE Deletion - In frame 14:70809057-70809059 - T37 COSM5342483 c.3258A>T p.A1086A Substitution - coding silent 14:70730479-70730479 - 19M COSM5578939 c.2009C>T p.T670I Substitution - Missense 14:70734403-70734403 - S06-38853-TP COSM4990709 c.2917C>T p.P973S Substitution - Missense 14:70730820-70730820 - 37M COSM5583742 c.3300G>A p.A1100A Substitution - coding silent 14:70730437-70730437 - SH-9771 COSM5019097 c.2676C>T p.N892N Substitution - coding silent 14:70732735-70732735 - Au4 COSM5604039 c.1488C>T p.P496P Substitution - coding silent 14:70742430-70742430 - OSCC-GB_00410111 COSM3711523 c.2403C>T p.A801A Substitution - coding silent 14:70733008-70733008 - T3255 COSM111673 c.113_115delAGG p.E38delE Deletion - In frame 14:70809057-70809059 - HT115 COSM2136313 c.1058A>G p.D353G Substitution - Missense 14:70750025-70750025 - DM51 COSM5609325 c.1598C>T p.S533F Substitution - Missense 14:70740134-70740134 - LC_C1 COSM1188856 c.2236C>G p.Q746E Substitution - Missense 14:70733175-70733175 - TCGA-66-2773-01 COSM698798 c.949G>A p.A317T Substitution - Missense 14:70761054-70761054 - TCGA-EB-A430-01 COSM3356709 c.3022C>T p.R1008W Substitution - Missense 14:70730715-70730715 - TMK1 COSM99078 c.2282G>A p.R761H Substitution - Missense 14:70733129-70733129 - TCGA-EE-A2MS-06 COSM3497571 c.3226C>T p.P1076S Substitution - Missense 14:70730511-70730511 - TCGA-DG-A2KL-01 COSM4851482 c.1237G>C p.E413Q Substitution - Missense 14:70748918-70748918 - S02246 COSM5678860 c.3055G>T p.D1019Y Substitution - Missense 14:70730682-70730682 - T3021 COSM195156 c.2423G>A p.R808Q Substitution - Missense 14:70732988-70732988 - 61 COSM5740154 c.575C>T p.A192V Substitution - Missense 14:70800912-70800912 - TCGA-EE-A2GJ-06 COSM3497591 c.1440G>A p.L480L Substitution - coding silent 14:70742478-70742478 - TCGA-EE-A3JA-06 COSM3497589 c.1598C>A p.S533Y Substitution - Missense 14:70740134-70740134 - TCGA-ER-A193-06 COSM3497594 c.1341G>A p.W447* Substitution - Nonsense 14:70742577-70742577 - TCGA-GN-A266-06 COSM3497588 c.1669C>T p.P557S Substitution - Missense 14:70740063-70740063 - CSCC-5-T COSM4484393 c.2801C>T p.A934V Substitution - Missense 14:70732610-70732610 - TCGA-AX-A06H-01 COSM957424 c.2108G>A p.R703H Substitution - Missense 14:70733303-70733303 - TCGA-EE-A29H-06 COSM3497572 c.3040A>T p.N1014Y Substitution - Missense 14:70730697-70730697 - 2492700 COSM433317 c.496G>A p.D166N Substitution - Missense 14:70800991-70800991 - MD-283 COSM302615 c.2617G>C p.V873L Substitution - Missense 14:70732794-70732794 - TCGA-AP-A059-01 COSM957425 c.1776A>G p.P592P Substitution - coding silent 14:70738313-70738313 - PCSI_0090_Pa_X COSM5419927 c.626T>C p.V209A Substitution - Missense 14:70800861-70800861 - YURAY COSM2136308 c.1333C>T p.R445C Substitution - Missense 14:70742585-70742585 - TCGA-06-0168 COSM1370857 c.1444C>T p.R482W Substitution - Missense 14:70742474-70742474 - TCGA-MU-A51Y-01 COSM4836463 c.3179G>A p.R1060Q Substitution - Missense 14:70730558-70730558 - TCGA-AX-A0J1-01 COSM957428 c.1334G>A p.R445H Substitution - Missense 14:70742584-70742584 - TCGA-GD-A3OQ-01 COSM1300792 c.2170G>A p.D724N Substitution - Missense 14:70733241-70733241 - YULAN COSM1707529 c.955G>A p.E319K Substitution - Missense 14:70761048-70761048 - 49M COSM5591788 c.1027C>T p.L343L Substitution - coding silent 14:70750056-70750056 - DM26 COSM5609318 c.1233C>T p.F411F Substitution - coding silent 14:70748922-70748922 - HCC107T COSM1607911 c.202G>C p.E68Q Substitution - Missense 14:70808970-70808970 - Au2 COSM433317 c.496G>A p.D166N Substitution - Missense 14:70800991-70800991 - TCGA-A3-3374-01 COSM1493308 c.1326+2T>A p.? Unknown 14:70748827-70748827 - YUPROST COSM1707528 c.1366C>G p.L456V Substitution - Missense 14:70742552-70742552 - S10-47754-TP COSM3886304 c.2377C>T p.P793S Substitution - Missense 14:70733034-70733034 - 014T COSM1727803 c.2594G>T p.R865L Substitution - Missense 14:70732817-70732817 - TCGA-FW-A3R5-06 COSM3886306 c.723C>T p.I241I Substitution - coding silent 14:70800764-70800764 - sysucc-1370T COSM5470279 c.3219G>A p.P1073P Substitution - coding silent 14:70730518-70730518 - TCGA-CM-5861-01 COSM1370856 c.2059G>A p.D687N Substitution - Missense 14:70733766-70733766 - DM74 COSM5609327 c.1773C>T p.A591A Substitution - coding silent 14:70738316-70738316 - DM6 COSM3886306 c.723C>T p.I241I Substitution - coding silent 14:70800764-70800764 - CRC-03T COSM5451339 c.2332G>T p.G778C Substitution - Missense 14:70733079-70733079 - 1517_PT COSM4700413 c.2222C>T p.A741V Substitution - Missense 14:70733189-70733189 - S03-45671-TP COSM4990708 c.2982C>T p.D994D Substitution - coding silent 14:70730755-70730755 - TCGA-BR-8687-01 COSM4052111 c.1376A>C p.K459T Substitution - Missense 14:70742542-70742542 - S02342 COSM5692538 c.2624A>C p.E875A Substitution - Missense 14:70732787-70732787 - PTC_33 COSM5957852 c.2136C>A p.Y712* Substitution - Nonsense 14:70733275-70733275 - TCGA-06-5412-01 COSM1678105 c.1793C>T p.T598M Substitution - Missense 14:70738296-70738296 - SH-1362 COSM3999363 c.1151-8C>T p.? Unknown 14:70749012-70749012 - SH-4435 COSM3999363 c.1151-8C>T p.? Unknown 14:70749012-70749012 - CSCC-27-T COSM4564945 c.1560_1561CC>TT p.P521S Substitution - Missense 14:70742357-70742358 - TCGA-EK-A2H0-01 COSM4819111 c.2564C>G p.S855C Substitution - Missense 14:70732847-70732847 - C126 COSM4441367 c.433A>G p.T145A Substitution - Missense 14:70801054-70801054 - DM28 COSM5609319 c.1191G>A p.T397T Substitution - coding silent 14:70748964-70748964 - TCGA-AP-A059-01 COSM957429 c.1248G>A p.K416K Substitution - coding silent 14:70748907-70748907 - TCGA-DD-A3A9-01 COSM4920552 c.1635C>G p.S545R Substitution - Missense 14:70740097-70740097 - TCGA-ER-A198-06 COSM3497584 c.1884C>T p.T628T Substitution - coding silent 14:70735990-70735990 - KM12 COSM4638920 c.360C>A p.R120R Substitution - coding silent 14:70808812-70808812 - TCGA-EE-A2GO-06 COSM3497575 c.2716C>T p.P906S Substitution - Missense 14:70732695-70732695 - TCGA-F4-6459-01 COSM1370861 c.248C>T p.S83F Substitution - Missense 14:70808924-70808924 - S09-31237-TP COSM4990710 c.2193C>T p.I731I Substitution - coding silent 14:70733218-70733218 - TCGA-G3-A5SK-01 COSM4927513 c.1217T>C p.I406T Substitution - Missense 14:70748938-70748938 - PCSI_0531_Pa_P_526 COSM5031767 c.1780A>G p.K594E Substitution - Missense 14:70738309-70738309 - TCGA-EE-A2GT-06 COSM3497570 c.3336C>T p.I1112I Substitution - coding silent 14:70730401-70730401 - HCC119T COSM5811226 c.513A>G p.K171K Substitution - coding silent 14:70800974-70800974 - CSCC-44-T COSM4453618 c.3229A>T p.T1077S Substitution - Missense 14:70730508-70730508 - S01022 COSM5665734 c.1473G>T p.L491L Substitution - coding silent 14:70742445-70742445 - TCGA-EE-A29D-06 COSM1239399 c.2458C>T p.R820W Substitution - Missense 14:70732953-70732953 - TCGA-D3-A2J8-06 COSM3497598 c.895C>T p.R299W Substitution - Missense 14:70761108-70761108 - 2178 COSM5012784 c.351C>A p.F117L Substitution - Missense 14:70808821-70808821 - TCGA-EE-A2MM-06 COSM3497592 c.1438C>T p.L480L Substitution - coding silent 14:70742480-70742480 - ESCC-D12 COSM5045301 c.1456A>G p.I486V Substitution - Missense 14:70742462-70742462 - CN-AML-08-T COSM3999363 c.1151-8C>T p.? Unknown 14:70749012-70749012 - TCGA-EE-A3AB-06 COSM3497578 c.2606A>G p.D869G Substitution - Missense 14:70732805-70732805 - SH-0348 COSM5019097 c.2676C>T p.N892N Substitution - coding silent 14:70732735-70732735 - SNU-175 COSM2136275 c.2515C>T p.L839L Substitution - coding silent 14:70732896-70732896 - 2492703 COSM5715831 c.2762C>T p.S921L Substitution - Missense 14:70732649-70732649 - 2492701 COSM5715831 c.2762C>T p.S921L Substitution - Missense 14:70732649-70732649 - TCGA-G2-A2EL-01 COSM1300793 c.1029G>A p.L343L Substitution - coding silent 14:70750054-70750054 - TCGA-B1-A47M-01 COSM4414607 c.2230A>C p.T744P Substitution - Missense 14:70733181-70733181 - SH-0348 COSM4148218 c.1833G>A p.S611S Substitution - coding silent 14:70738256-70738256 - TCGA-AM-5820-01 COSM3754078 c.1937A>G p.Y646C Substitution - Missense 14:70734475-70734475 - S02352 COSM5695292 c.427G>A p.E143K Substitution - Missense 14:70801060-70801060 - CSCC-29-T COSM4484877 c.2864C>T p.P955L Substitution - Missense 14:70732547-70732547 - PD11326a COSM5789755 c.1076A>C p.Y359S Substitution - Missense 14:70750007-70750007 - SH-7032 COSM3999363 c.1151-8C>T p.? Unknown 14:70749012-70749012 - 8015299 COSM3497593 c.1357C>T p.R453W Substitution - Missense 14:70742561-70742561 - TCGA-GF-A6C9-06 COSM4901328 c.1821G>A p.K607K Substitution - coding silent 14:70738268-70738268 - LN229 COSM2136323 c.581T>G p.L194R Substitution - Missense 14:70800906-70800906 - HCT8 COSM3690173 c.2702G>A p.R901H Substitution - Missense 14:70732709-70732709 - LUAD-S01346 COSM397486 c.1284C>T p.H428H Substitution - coding silent 14:70748871-70748871 - S03-45671-TP COSM4990711 c.1744G>A p.E582K Substitution - Missense 14:70738345-70738345 - 587284 COSM1214457 c.113A>C p.E38A Substitution - Missense 14:70809059-70809059 - 134413 COSM321574 c.2446A>T p.S816C Substitution - Missense 14:70732965-70732965 - DM17 COSM5609317 c.2838C>T p.P946P Substitution - coding silent 14:70732573-70732573 - TCGA-D1-A103-01 COSM957426 c.1646C>T p.P549L Substitution - Missense 14:70740086-70740086 - LUAD-CHTN-MAD06-00668 COSM358862 c.389G>A p.C130Y Substitution - Missense 14:70808783-70808783 - HDC82 COSM4636618 c.2594G>A p.R865H Substitution - Missense 14:70732817-70732817 - DM96 COSM5609329 c.1410G>A p.Q470Q Substitution - coding silent 14:70742508-70742508 - BD6T COSM5499192 c.64delG p.E22fs*50 Deletion - Frameshift 14:70809108-70809108 - TCGA-GF-A6C9-06 COSM4901519 c.1112C>T p.P371L Substitution - Missense 14:70749971-70749971 - MT-439-T2 COSM1214457 c.113A>C p.E38A Substitution - Missense 14:70809059-70809059 - TCGA-AP-A0LM-01 COSM957419 c.3030T>C p.R1010R Substitution - coding silent 14:70730707-70730707 - SH-6055 COSM3999363 c.1151-8C>T p.? Unknown 14:70749012-70749012 - T3446 COSM4700417 c.778G>A p.A260T Substitution - Missense 14:70800709-70800709 - DM8 COSM5611329 c.1488_1489CC>TT p.R497W Substitution - Missense 14:70742429-70742430 - TCGA-EE-A29M-06 COSM3497581 c.2379C>T p.P793P Substitution - coding silent 14:70733032-70733032 - SNUH_G10_S1 COSM3999363 c.1151-8C>T p.? Unknown 14:70749012-70749012 - T3091 COSM4700413 c.2222C>T p.A741V Substitution - Missense 14:70733189-70733189 - T3225 COSM4700414 c.1550G>A p.R517H Substitution - Missense 14:70742368-70742368 - DM31 COSM5611328 c.1129_1130CC>TT p.P377F Substitution - Missense 14:70749953-70749954 - TCGA-FW-A3R5-06 COSM3886308 c.432C>T p.L144L Substitution - coding silent 14:70801055-70801055 - DM29 COSM5609321 c.2452C>T p.P818S Substitution - Missense 14:70732959-70732959 - S12-11594-TP COSM4990707 c.3031C>T p.P1011S Substitution - Missense 14:70730706-70730706 - PT13 COSM3999363 c.1151-8C>T p.? Unknown 14:70749012-70749012 - tumor_4177856 COSM3356709 c.3022C>T p.R1008W Substitution - Missense 14:70730715-70730715 - 8044832 COSM1158234 c.2459G>A p.R820Q Substitution - Missense 14:70732952-70732952 - 1517_CLM COSM4700413 c.2222C>T p.A741V Substitution - Missense 14:70733189-70733189 - DM77 COSM5609328 c.2920C>G p.R974G Substitution - Missense 14:70730817-70730817 - HX15T COSM1607909 c.2818C>A p.L940I Substitution - Missense 14:70732593-70732593 - T3024 COSM4700412 c.3299C>T p.A1100V Substitution - Missense 14:70730438-70730438 - TCGA-EE-A2MR-06 COSM3497600 c.678A>G p.G226G Substitution - coding silent 14:70800809-70800809 - pfg127T COSM4757188 c.1099G>T p.A367S Substitution - Missense 14:70749984-70749984 - DM17 COSM2136315 c.935C>T p.T312M Substitution - Missense 14:70761068-70761068 - LS411 COSM4646489 c.142C>T p.L48L Substitution - coding silent 14:70809030-70809030 - T2997 COSM111673 c.113_115delAGG p.E38delE Deletion - In frame 14:70809057-70809059 - SH-5693 COSM5019097 c.2676C>T p.N892N Substitution - coding silent 14:70732735-70732735 - SNUH_G16_S1 COSM3677976 c.2647G>A p.A883T Substitution - Missense 14:70732764-70732764 - CHC1531T COSM4804771 c.3346T>G p.F1116V Substitution - Missense 14:70730391-70730391 - YUKLAB COSM1707527 c.1772C>T p.A591V Substitution - Missense 14:70738317-70738317 - TCGA-FS-A4FD-06 COSM3497573 c.2792C>T p.S931F Substitution - Missense 14:70732619-70732619 - DM28 COSM5609320 c.2597C>A p.S866Y Substitution - Missense 14:70732814-70732814 - TCGA-BR-4201-01 COSM4052110 c.1555A>G p.S519G Substitution - Missense 14:70742363-70742363 - TCGA-CM-6162-01 COSM3690172 c.3049C>T p.R1017W Substitution - Missense 14:70730688-70730688 - ME044T COSM229259 c.2425G>A p.E809K Substitution - Missense 14:70732986-70732986 - T2941 COSM4700416 c.921G>A p.M307I Substitution - Missense 14:70761082-70761082 - LFS_MB1 COSM1132979 c.2872+10C>T p.? Unknown 14:70732529-70732529 - C086 COSM5534253 c.3058C>T p.P1020S Substitution - Missense 14:70730679-70730679 - HCC143T COSM1607910 c.696A>G p.L232L Substitution - coding silent 14:70800791-70800791 - TCGA-AK-3447-01 COSM1493308 c.1326+2T>A p.? Unknown 14:70748827-70748827 - S04-22711-TP COSM4990713 c.648C>T p.L216L Substitution - coding silent 14:70800839-70800839 - TCGA-G4-6302-01 COSM3690173 c.2702G>A p.R901H Substitution - Missense 14:70732709-70732709 - H1155 COSM1196072 c.2422C>T p.R808W Substitution - Missense 14:70732989-70732989 - TCGA-EJ-5527-01 COSM1493308 c.1326+2T>A p.? Unknown 14:70748827-70748827 - TCGA-RP-A695-06 COSM4896963 c.1062C>T p.G354G Substitution - coding silent 14:70750021-70750021 - OSCC-GB_01160111 COSM5956073 c.1131T>C p.P377P Substitution - coding silent 14:70749952-70749952 - YUMOBER COSM5382583 c.2536C>T p.L846L Substitution - coding silent 14:70732875-70732875 - TCGA-CD-A4MG-01 COSM4052109 c.2169C>T p.G723G Substitution - coding silent 14:70733242-70733242 - PT27 COSM5905961 c.3202C>T p.P1068S Substitution - Missense 14:70730535-70730535 - TCGA-A3-3374-01 COSM1493309 c.2821C>T p.L941L Substitution - coding silent 14:70732590-70732590 - 2492701 COSM433317 c.496G>A p.D166N Substitution - Missense 14:70800991-70800991 - DM93 COSM5019097 c.2676C>T p.N892N Substitution - coding silent 14:70732735-70732735 - S00934 COSM5662722 c.1968G>T p.L656L Substitution - coding silent 14:70734444-70734444 - Gp5D COSM2136263 c.2927C>T p.P976L Substitution - Missense 14:70730810-70730810 - TCGA-C8-A275-01 COSM1477737 c.2853G>C p.L951F Substitution - Missense 14:70732558-70732558 - SH-3133 COSM4148218 c.1833G>A p.S611S Substitution - coding silent 14:70738256-70738256 - TCGA-FR-A3R1-01 COSM3497583 c.2158G>A p.G720R Substitution - Missense 14:70733253-70733253 - TCGA-FR-A3YN-06 COSM3497599 c.715C>T p.P239S Substitution - Missense 14:70800772-70800772 - HCC143 COSM1607910 c.696A>G p.L232L Substitution - coding silent 14:70800791-70800791 - Pat_41_B COSM5848447 c.1800delG p.P601fs*26 Deletion - Frameshift 14:70738289-70738289 - Pat_58_B COSM5848448 c.1710C>A p.S570R Substitution - Missense 14:70738379-70738379 - C086 COSM5534252 c.3223C>T p.P1075S Substitution - Missense 14:70730514-70730514 - TCGA-61-1727-01 COSM1323406 c.667G>A p.A223T Substitution - Missense 14:70800820-70800820 - DM93 COSM4148218 c.1833G>A p.S611S Substitution - coding silent 14:70738256-70738256 - L25 COSM5369655 c.3193G>T p.A1065S Substitution - Missense 14:70730544-70730544 - Br14X COSM41041 c.2980G>A p.D994N Substitution - Missense 14:70730757-70730757 - IGROV-1 COSM1678108 c.958G>T p.V320F Substitution - Missense 14:70761045-70761045 - 2492700 COSM5715831 c.2762C>T p.S921L Substitution - Missense 14:70732649-70732649 - 2492702 COSM5715831 c.2762C>T p.S921L Substitution - Missense 14:70732649-70732649 - TCGA-A2-A0T1-01 COSM433315 c.3034delT p.S1012fs*46 Deletion - Frameshift 14:70730703-70730703 - WSU-HN6 COSM111673 c.113_115delAGG p.E38delE Deletion - In frame 14:70809057-70809059 - T2955 COSM111673 c.113_115delAGG p.E38delE Deletion - In frame 14:70809057-70809059 - 15822 COSM5616787 c.2493G>A p.K831K Substitution - coding silent 14:70732918-70732918 - TCGA-EB-A4OY-01 COSM3497590 c.1533G>T p.K511N Substitution - Missense 14:70742385-70742385 - C467 COSM4441989 c.1828G>T p.A610S Substitution - Missense 14:70738261-70738261 - TCGA-EE-A29V-06 COSM3497577 c.2608G>A p.E870K Substitution - Missense 14:70732803-70732803 - LIM2551 COSM4643859 c.1501C>T p.R501C Substitution - Missense 14:70742417-70742417 - TCGA-BS-A0UF-01 COSM957422 c.2421A>G p.R807R Substitution - coding silent 14:70732990-70732990 - SH-9771 COSM4148218 c.1833G>A p.S611S Substitution - coding silent 14:70738256-70738256 - T95 COSM240595 c.479G>A p.R160H Substitution - Missense 14:70801008-70801008 - DM43 COSM5609323 c.2204C>T p.P735L Substitution - Missense 14:70733207-70733207 - SH-8559 COSM4148218 c.1833G>A p.S611S Substitution - coding silent 14:70738256-70738256 - ESCC_42 COSM5629682 c.221G>T p.R74L Substitution - Missense 14:70808951-70808951 - Malme-3M COSM1678109 c.712C>A p.P238T Substitution - Missense 14:70800775-70800775 - Pat_41_B COSM5848450 c.968C>T p.A323V Substitution - Missense 14:70761035-70761035 - CSCC-56-T COSM4470523 c.1665C>T p.I555I Substitution - coding silent 14:70740067-70740067 - CHC892T COSM4958559 c.623G>A p.G208E Substitution - Missense 14:70800864-70800864 - KM12 COSM2136290 c.1999C>T p.P667S Substitution - Missense 14:70734413-70734413 - Gp2D COSM2136263 c.2927C>T p.P976L Substitution - Missense 14:70730810-70730810 - 2334189 COSM321576 c.3110G>A p.S1037N Substitution - Missense 14:70730627-70730627 - ESCC_8 COSM5623453 c.2543T>A p.L848Q Substitution - Missense 14:70732868-70732868 - TCGA-BH-A18P-01 COSM433317 c.496G>A p.D166N Substitution - Missense 14:70800991-70800991 - 134430 COSM321575 c.1285G>C p.E429Q Substitution - Missense 14:70748870-70748870 - DM6 COSM3497602 c.478C>T p.R160C Substitution - Missense 14:70801009-70801009 - TCGA-ER-A19F-06 COSM3886304 c.2377C>T p.P793S Substitution - Missense 14:70733034-70733034 - OV207 COSM252596 c.3028C>T p.R1010C Substitution - Missense 14:70730709-70730709 - YUWAND COSM1707526 c.3032C>T p.P1011L Substitution - Missense 14:70730705-70730705 - SJDOSTEOS005 COSM5759866 c.506C>T p.A169V Substitution - Missense 14:70800981-70800981 - HCC107 COSM1607911 c.202G>C p.E68Q Substitution - Missense 14:70808970-70808970 - TCGA-18-3409-01 COSM698800 c.1561C>T p.P521S Substitution - Missense 14:70742357-70742357 - SH-1641 COSM3999363 c.1151-8C>T p.? Unknown 14:70749012-70749012 - CP66-MEL COSM21063 c.737C>T p.A246V Substitution - Missense 14:70800750-70800750 - SH-2871 COSM4148218 c.1833G>A p.S611S Substitution - coding silent 14:70738256-70738256 - TCGA-32-4210-01 COSM3401446 c.1026G>T p.L342F Substitution - Missense 14:70750057-70750057 - C008 COSM3497602 c.478C>T p.R160C Substitution - Missense 14:70801009-70801009 - CHC892T COSM4958559 c.623G>A p.G208E Substitution - Missense 14:70800864-70800864 - TCGA-D1-A0ZN-01 COSM957421 c.2565C>T p.S855S Substitution - coding silent 14:70732846-70732846 - HCT15 COSM1678106 c.1267C>T p.Q423* Substitution - Nonsense 14:70748888-70748888 - SH-7282 COSM3999363 c.1151-8C>T p.? Unknown 14:70749012-70749012 - SE9PT COSM1579842 c.2508G>T p.M836I Substitution - Missense 14:70732903-70732903 - TCGA-D9-A1JX-06 COSM3497574 c.2736C>T p.P912P Substitution - coding silent 14:70732675-70732675 - TCGA-EE-A3AG-06 COSM3497601 c.522C>T p.R174R Substitution - coding silent 14:70800965-70800965 - SH-7329 COSM3999363 c.1151-8C>T p.? Unknown 14:70749012-70749012 - Au3 COSM5601778 c.2460G>A p.R820R Substitution - coding silent 14:70732951-70732951 -

Mutation - CGAP UNIGENE CYTOBAND OMIM SNP Hs.445496 14q24.2 600136 Hs.593541;Hs.593542 14q24.2 600136

Mutation - IntOGen Mutated from(ref) Mutated to(alt) Consequence Type AA Mutation CDS Mutation Chr Pos Cancer A - Frameshift p.S1012Lfs*46 c.3034delT 14 71197420 BRCA A G Missense p.S1025P c.3073T>C 14 71197381 RCCC A G Synonymous p.L137L c.409T>C 14 71267795 CM A - IntronicDeletion . c.1913+140delT 14 71202538 ESCA A T Missense p.S1048T c.3142T>A 14 71197312 LUAD C A Missense p.A367S c.1099G>T 14 71216701 LUAD C A Missense p.D523Y c.1567G>T 14 71209068 LUAD C A Missense p.E1004D c.3012G>T 14 71197442 LUAD C A Missense p.G234W c.700G>T 14 71267504 CM C A Missense p.G970C c.2908G>T 14 71197546 LUAD C A Missense p.L342F c.1026G>T 14 71216774 GBM C A Missense p.R453L c.1358G>T 14 71209277 LUAD C A Missense p.R808L c.2423G>T 14 71199705 LUAD C A Synonymous p.L242L c.726G>T 14 71267478 LUAD C A Synonymous p.T529T c.1587G>T 14 71206862 LUAD CCG - InFrameDeletion p.A42delA c.125_127delCGG 14 71275762 CM CCT - InFrameDeletion p.E38delE c.113_115delAGG 14 71275774 BLCA CCT - InFrameDeletion p.E38delE c.113_115delAGG 14 71275774 HNSC CCT - InFrameDeletion p.E38delE c.113_115delAGG 14 71275774 LGG CCT - InFrameDeletion p.E38delE c.113_115delAGG 14 71275774 LUSC CCT - InFrameDeletion p.E38delE c.113_115delAGG 14 71275774 OV CCT - InFrameDeletion p.E38delE c.113_115delAGG 14 71275774 PRAD CCT - InFrameDeletion p.E38delE c.113_115delAGG 14 71275774 THCA CC TT Missense p.E608K c.1821_1822delinsAA 14 71204984 CM C G Missense p.E429Q c.1285G>C 14 71215587 SCLC C G Missense p.G615A c.1844G>C 14 71204962 LUAD C G Missense p.L951F c.2853G>C 14 71199275 BRCA C T Missense p.A317T c.949G>A 14 71227771 LUSC C T Missense p.D724N c.2170G>A 14 71199958 BLCA C T Missense p.D869N c.2605G>A 14 71199523 CM C T Missense p.E413K c.1237G>A 14 71215635 CM C T Missense p.E809K c.2425G>A 14 71199703 CM C T Missense p.E870K c.2608G>A 14 71199520 CM C T Missense p.G226E c.677G>A 14 71267527 CM C T Missense p.G354D c.1061G>A 14 71216739 CM C T Missense p.R207K c.620G>A 14 71267584 HNSC C T Missense p.R703H c.2108G>A 14 71200020 UCEC C T Missense p.S1037N c.3110G>A 14 71197344 SCLC C T Nonsense p.W447* c.1341G>A 14 71209294 CM C T Synonymous p.E587E c.1761G>A 14 71205045 CM C T Synonymous p.E882E c.2646G>A 14 71199482 CM C T Synonymous p.G252G c.756G>A 14 71267448 BRCA C T Synonymous p.K831K c.2493G>A 14 71199635 NSCLC C T Synonymous p.L343L c.1029G>A 14 71216771 BLCA C T Synonymous p.L480L c.1440G>A 14 71209195 CM C T Synonymous p.R1079R c.3237G>A 14 71197217 LUSC G A IntronicSNV . c.1567+46C>T 14 71209022 STAD G A IntronicSNV . c.1690+13C>T 14 71206746 CM G A IntronicSNV . c.1690+85C>T 14 71206674 CM G A Missense p.D994N c.2980G>A 14 71197474 GBM G A Missense p.H732Y c.2194C>T 14 71199934 CM G A Missense p.L484F c.1450C>T 14 71209185 HNSC G A Missense p.P1076S c.3226C>T 14 71197228 CM G A Missense p.P371S c.1111C>T 14 71216689 CM G A Missense p.P793S c.2377C>T 14 71199751 CM G A Missense p.P888S c.2662C>T 14 71199466 CM G A Missense p.P906S c.2716C>T 14 71199412 CM G A Missense p.R1008W c.3022C>T 14 71197432 DLBCL G A Missense p.R160C c.478C>T 14 71267726 CM G A Missense p.R299W c.895C>T 14 71227825 CM G A Missense p.R453W c.1357C>T 14 71209278 CM G A Missense p.R467C c.1399C>T 14 71209236 STAD G A Missense p.R482W c.1444C>T 14 71209191 GBM G A Missense p.R820W c.2458C>T 14 71199670 ESCA G A Missense p.R861C c.2581C>T 14 71199547 COREAD G A Missense p.S616F c.1847C>T 14 71202744 CM G A Missense p.S859F c.2576C>T 14 71199552 CM G A Missense p.T598M c.1793C>T 14 71205013 GBM G A Nonsense p.Q431* c.1291C>T 14 71215581 CM G A Nonsense p.Q563* c.1687C>T 14 71206762 CM G A Synonymous p.A205A c.615C>T 14 71267589 RCCC G A Synonymous p.C385C c.1155C>T 14 71215717 STAD G A Synonymous p.F830F c.2490C>T 14 71199638 CM G A Synonymous p.G574G c.1722C>T 14 71205084 HNSC G A Synonymous p.I1112I c.3336C>T 14 71197118 CM G A Synonymous p.L480L c.1438C>T 14 71209197 CM G A Synonymous p.L747L c.2239C>T 14 71199889 CM G A Synonymous p.P793P c.2379C>T 14 71199749 CM G A Synonymous p.P912P c.2736C>T 14 71199392 CM G A Synonymous p.R174R c.522C>T 14 71267682 CM G A Synonymous p.S850S c.2550C>T 14 71199578 CM G A Synonymous p.S855S c.2565C>T 14 71199563 UCEC G A Synonymous p.T628T c.1884C>T 14 71202707 CM G A Synonymous p.V881V c.2643C>T 14 71199485 CM G C Missense p.P1061R c.3182C>G 14 71197272 LUAD G C Missense p.P973A c.2917C>G 14 71197537 BRCA G T Missense p.P984Q c.2951C>A 14 71197503 MM G T Missense p.S533Y c.1598C>A 14 71206851 CM G T Synonymous p.P735P c.2205C>A 14 71199923 LUSC T A Missense p.I477F c.1429A>T 14 71209206 LUAD T A Missense p.M325L c.973A>T 14 71227747 LUAD T A Missense p.N1014Y c.3040A>T 14 71197414 CM T A Missense p.S816C c.2446A>T 14 71199682 SCLC T C Missense p.D869G c.2606A>G 14 71199522 CM T C Missense p.Q992R c.2975A>G 14 71197479 SCLC T C Missense p.S519G c.1555A>G 14 71209080 STAD - TTG IntronicInsertion . c.821-16906_821-16905insCAA 14 71244804 CM