Mutation - TCGA Type Chromosome Start Position End Position Strand Variant Classification Variant Type Reference Allele Tumor_seq Allele 1 Tumor_seq Allele 2 Tumor Sample Barcode Matched Norm Sample Barcode Genome Change cDNA Change Codon Change Protein Change ACC 19 45900158 45900158 + Silent SNP C C G TCGA-OR-A5LK-01A-11D-A29I-10 TCGA-OR-A5LK-10A-01D-A29L-10 g.chr19:45900158C>G c.357G>C c.(355-357)tcG>tcC p.S119S BLCA 19 45885853 45885853 + Missense_Mutation SNP C C G TCGA-ZF-AA4N-01A-11D-A38G-08 TCGA-ZF-AA4N-10A-01D-A38J-08 g.chr19:45885853C>G c.2380G>C c.(2380-2382)Gag>Cag p.E794Q BLCA 19 45888872 45888872 + Silent SNP C C T TCGA-K4-A54R-01A-11D-A26M-08 TCGA-K4-A54R-10A-01D-A26K-08 g.chr19:45888872C>T c.2196G>A c.(2194-2196)gaG>gaA p.E732E BLCA 19 45895489 45895489 + Silent SNP G G A TCGA-FD-A3SL-01A-21D-A22Z-08 TCGA-FD-A3SL-10A-01D-A22Z-08 g.chr19:45895489G>A c.1464C>T c.(1462-1464)ctC>ctT p.L488L BLCA 19 45895561 45895561 + Silent SNP C C T TCGA-FD-A3SR-01A-11D-A22Z-08 TCGA-FD-A3SR-10A-01D-A22Z-08 g.chr19:45895561C>T c.1392G>A c.(1390-1392)ccG>ccA p.P464P BLCA 19 45899596 45899596 + Splice_Site SNP G G A TCGA-DK-A1A3-01A-11D-A13W-08 TCGA-DK-A1A3-10A-01D-A13W-08 g.chr19:45899596G>A c.811C>T c.(811-813)Cgc>Tgc p.R271C BLCA 19 45899616 45899616 + Missense_Mutation SNP G G A TCGA-XF-AAN0-01A-11D-A42E-08 TCGA-XF-AAN0-10A-01D-A42H-08 g.chr19:45899616G>A c.791C>T c.(790-792)tCg>tTg p.S264L BLCA 19 45899649 45899649 + Missense_Mutation SNP G G A TCGA-KQ-A41R-01A-21D-A34U-08 TCGA-KQ-A41R-10G-01D-A34X-08 g.chr19:45899649G>A c.758C>T c.(757-759)tCt>tTt p.S253F BLCA 19 45899848 45899848 + Silent SNP G G A TCGA-DK-A3IS-01A-21D-A21A-08 TCGA-DK-A3IS-10A-01D-A21A-08 g.chr19:45899848G>A c.667C>T c.(667-669)Cta>Tta p.L223L BLCA 19 45901567 45901567 + Missense_Mutation SNP C C T TCGA-KQ-A41R-01A-21D-A34U-08 TCGA-KQ-A41R-10G-01D-A34X-08 g.chr19:45901567C>T c.10G>A c.(10-12)Gag>Aag p.E4K BRCA 19 45885896 45885896 + Missense_Mutation SNP G G C TCGA-AC-A23H-01A-11D-A159-09 TCGA-AC-A23H-11A-12D-A17G-09 g.chr19:45885896G>C c.2337C>G c.(2335-2337)ttC>ttG p.F779L BRCA 19 45889119 45889119 + Missense_Mutation SNP C C T TCGA-AO-A128-01A-11D-A10M-09 TCGA-AO-A128-10A-01D-A10M-09 g.chr19:45889119C>T c.2044G>A c.(2044-2046)Gcg>Acg p.A682T BRCA 19 45900186 45900186 + Missense_Mutation SNP C C T TCGA-A7-A0DA-01A-31D-A10Y-09 TCGA-A7-A0DA-10A-01D-A110-09 g.chr19:45900186C>T c.329G>A c.(328-330)aGc>aAc p.S110N CESC 19 45895174 45895174 + Silent SNP C C T TCGA-EX-A69M-01A-11D-A32I-09 TCGA-EX-A69M-10A-01D-A32I-09 g.chr19:45895174C>T c.1779G>A c.(1777-1779)ccG>ccA p.P593P CESC 19 45895303 45895303 + Silent SNP G G A TCGA-JW-A5VL-01A-11D-A28B-09 TCGA-JW-A5VL-10A-01D-A28E-09 g.chr19:45895303G>A c.1650C>T c.(1648-1650)ctC>ctT p.L550L COAD 19 45888969 45888969 + Missense_Mutation SNP G G A TCGA-AA-3492-01A-01D-1408-10 TCGA-AA-3492-11A-01D-1408-10 g.chr19:45888969G>A c.2099C>T c.(2098-2100)gCg>gTg p.A700V COAD 19 45895182 45895182 + Missense_Mutation SNP G G A TCGA-D5-6928-01A-11D-1924-10 TCGA-D5-6928-10A-01D-1924-10 g.chr19:45895182G>A c.1771C>T c.(1771-1773)Ccg>Tcg p.P591S COAD 19 45898730 45898730 + Frame_Shift_Del DEL G G - TCGA-G4-6586-01A-11D-1771-10 TCGA-G4-6586-10A-01D-1771-10 g.chr19:45898730delG c.1318delC c.(1318-1320)cagfs p.Q440fs COAD 19 45899615 45899615 + Silent SNP C C T TCGA-AA-3815-01A-01W-0995-10 TCGA-AA-3815-10A-01W-0995-10 g.chr19:45899615C>T c.792G>A c.(790-792)tcG>tcA p.S264S COAD 19 45899680 45899680 + Missense_Mutation SNP G G A TCGA-AA-3864-01A-01W-0995-10 TCGA-AA-3864-10A-01W-0995-10 g.chr19:45899680G>A c.727C>T c.(727-729)Cgc>Tgc p.R243C COAD 19 45901284 45901284 + Silent SNP C C T TCGA-CK-6746-01A-11D-1835-10 TCGA-CK-6746-10A-01D-1835-10 g.chr19:45901284C>T c.177G>A c.(175-177)ccG>ccA p.P59P COAD 19 45901304 45901304 + Missense_Mutation SNP A A G TCGA-CM-6163-01A-11D-1650-10 TCGA-CM-6163-10A-01D-1650-10 g.chr19:45901304A>G c.157T>C c.(157-159)Tct>Cct p.S53P COADREAD 19 45888969 45888969 + Missense_Mutation SNP G G A TCGA-AA-3492-01A-01D-1408-10 TCGA-AA-3492-11A-01D-1408-10 g.chr19:45888969G>A c.2099C>T c.(2098-2100)gCg>gTg p.A700V COADREAD 19 45895182 45895182 + Missense_Mutation SNP G G A TCGA-D5-6928-01A-11D-1924-10 TCGA-D5-6928-10A-01D-1924-10 g.chr19:45895182G>A c.1771C>T c.(1771-1773)Ccg>Tcg p.P591S COADREAD 19 45898730 45898730 + Frame_Shift_Del DEL G G - TCGA-G4-6586-01A-11D-1771-10 TCGA-G4-6586-10A-01D-1771-10 g.chr19:45898730delG c.1318delC c.(1318-1320)cagfs p.Q440fs COADREAD 19 45899615 45899615 + Silent SNP C C T TCGA-AA-3815-01A-01W-0995-10 TCGA-AA-3815-10A-01W-0995-10 g.chr19:45899615C>T c.792G>A c.(790-792)tcG>tcA p.S264S COADREAD 19 45899680 45899680 + Missense_Mutation SNP G G A TCGA-AA-3864-01A-01W-0995-10 TCGA-AA-3864-10A-01W-0995-10 g.chr19:45899680G>A c.727C>T c.(727-729)Cgc>Tgc p.R243C COADREAD 19 45901284 45901284 + Silent SNP C C T TCGA-CK-6746-01A-11D-1835-10 TCGA-CK-6746-10A-01D-1835-10 g.chr19:45901284C>T c.177G>A c.(175-177)ccG>ccA p.P59P COADREAD 19 45901304 45901304 + Missense_Mutation SNP A A G TCGA-CM-6163-01A-11D-1650-10 TCGA-CM-6163-10A-01D-1650-10 g.chr19:45901304A>G c.157T>C c.(157-159)Tct>Cct p.S53P ESCA 19 45899677 45899677 + Silent SNP G G T TCGA-L5-A8NM-01A-11D-A37C-09 TCGA-L5-A8NM-11A-12D-A37F-09 g.chr19:45899677G>T c.730C>A c.(730-732)Cgg>Agg p.R244R ESCA 19 45900156 45900156 + Missense_Mutation SNP G G A TCGA-LN-A4MQ-01A-11D-A28B-09 TCGA-LN-A4MQ-10A-01D-A28E-09 g.chr19:45900156G>A c.359C>T c.(358-360)tCg>tTg p.S120L GBMLGG 19 45885827 45885827 + Silent SNP C C T TCGA-HT-8564-01A-11D-2395-08 TCGA-HT-8564-10A-01D-2396-08 g.chr19:45885827C>T c.2406G>A c.(2404-2406)gcG>gcA p.A802A GBMLGG 19 45895364 45895364 + Missense_Mutation SNP G G A TCGA-QH-A65Z-01A-11D-A29Q-08 TCGA-QH-A65Z-10A-01D-A29Q-08 g.chr19:45895364G>A c.1589C>T c.(1588-1590)gCc>gTc p.A530V HNSC 19 45885876 45885876 + Missense_Mutation SNP G G A TCGA-D6-6516-01A-11D-1870-08 TCGA-D6-6516-10A-01D-1870-08 g.chr19:45885876G>A c.2357C>T c.(2356-2358)aCc>aTc p.T786I HNSC 19 45885896 45885896 + Silent SNP G G A TCGA-CV-7568-01A-11D-2229-08 TCGA-CV-7568-10A-01D-2229-08 g.chr19:45885896G>A c.2337C>T c.(2335-2337)ttC>ttT p.F779F HNSC 19 45889216 45889216 + Splice_Site SNP C C G TCGA-CQ-7063-01A-11D-2394-08 TCGA-CQ-7063-10A-01D-2394-08 g.chr19:45889216C>G c.e10-1 HNSC 19 45889353 45889353 + Missense_Mutation SNP G G A TCGA-F7-A624-01A-22D-A30E-08 TCGA-F7-A624-10A-01D-A30H-08 g.chr19:45889353G>A c.1901C>T c.(1900-1902)gCg>gTg p.A634V HNSC 19 45895566 45895566 + Missense_Mutation SNP C C G TCGA-DQ-5625-01A-01D-1870-08 TCGA-DQ-5625-10A-01D-1870-08 g.chr19:45895566C>G c.1387G>C c.(1387-1389)Gag>Cag p.E463Q HNSC 19 45899945 45899945 + Silent SNP C C T TCGA-F7-A624-01A-22D-A30E-08 TCGA-F7-A624-10A-01D-A30H-08 g.chr19:45899945C>T c.570G>A c.(568-570)gcG>gcA p.A190A HNSC 19 45900259 45900259 + Missense_Mutation SNP G G A TCGA-CV-7568-01A-11D-2229-08 TCGA-CV-7568-10A-01D-2229-08 g.chr19:45900259G>A c.256C>T c.(256-258)Cgg>Tgg p.R86W HNSC 19 45900260 45900260 + Silent SNP G G A TCGA-CV-7568-01A-11D-2229-08 TCGA-CV-7568-10A-01D-2229-08 g.chr19:45900260G>A c.255C>T c.(253-255)ccC>ccT p.P85P KIPAN 19 45889399 45889399 + Missense_Mutation SNP T T C TCGA-UZ-A9PL-01A-11D-A382-10 TCGA-UZ-A9PL-10A-01D-A385-10 g.chr19:45889399T>C c.1855A>G c.(1855-1857)Aag>Gag p.K619E KIPAN 19 45901534 45901534 + Missense_Mutation SNP T T C TCGA-CJ-4916-01A-01D-1429-08 TCGA-CJ-4916-11A-01D-1429-08 g.chr19:45901534T>C c.43A>G c.(43-45)Atg>Gtg p.M15V KIRC 19 45901534 45901534 + Missense_Mutation SNP T T C TCGA-CJ-4916-01A-01D-1429-08 TCGA-CJ-4916-11A-01D-1429-08 g.chr19:45901534T>C c.43A>G c.(43-45)Atg>Gtg p.M15V KIRP 19 45889399 45889399 + Missense_Mutation SNP T T C TCGA-UZ-A9PL-01A-11D-A382-10 TCGA-UZ-A9PL-10A-01D-A385-10 g.chr19:45889399T>C c.1855A>G c.(1855-1857)Aag>Gag p.K619E LGG 19 45885827 45885827 + Silent SNP C C T TCGA-HT-8564-01A-11D-2395-08 TCGA-HT-8564-10A-01D-2396-08 g.chr19:45885827C>T c.2406G>A c.(2404-2406)gcG>gcA p.A802A LGG 19 45895364 45895364 + Missense_Mutation SNP G G A TCGA-QH-A65Z-01A-11D-A29Q-08 TCGA-QH-A65Z-10A-01D-A29Q-08 g.chr19:45895364G>A c.1589C>T c.(1588-1590)gCc>gTc p.A530V LIHC 19 45895303 45895303 + Silent SNP G G A TCGA-2Y-A9H3-01A-11D-A382-10 TCGA-2Y-A9H3-10A-01D-A385-10 g.chr19:45895303G>A c.1650C>T c.(1648-1650)ctC>ctT p.L550L LUAD 19 45885799 45885799 + Missense_Mutation SNP G G A TCGA-55-8615-01A-11D-2393-08 TCGA-55-8615-10A-01D-2393-08 g.chr19:45885799G>A c.2434C>T c.(2434-2436)Cgg>Tgg p.R812W LUAD 19 45885828 45885828 + Missense_Mutation SNP G G A TCGA-93-A4JP-01A-11D-A24P-08 TCGA-93-A4JP-10A-01D-A24P-08 g.chr19:45885828G>A c.2405C>T c.(2404-2406)gCg>gTg p.A802V LUAD 19 45885837 45885837 + Nonsense_Mutation SNP C C T TCGA-38-4628-01A-01D-1265-08 TCGA-38-4628-11A-01D-1265-08 g.chr19:45885837C>T c.2396G>A c.(2395-2397)tGg>tAg p.W799* LUAD 19 45885899 45885899 + Silent SNP G G A TCGA-55-7907-01A-11D-2167-08 TCGA-55-7907-10A-01D-2167-08 g.chr19:45885899G>A c.2334C>T c.(2332-2334)tcC>tcT p.S778S LUAD 19 45885900 45885900 + Missense_Mutation SNP G G C TCGA-55-7907-01A-11D-2167-08 TCGA-55-7907-10A-01D-2167-08 g.chr19:45885900G>C c.2333C>G c.(2332-2334)tCc>tGc p.S778C LUAD 19 45885959 45885959 + Missense_Mutation SNP C C G TCGA-55-A493-01A-11D-A24D-08 TCGA-55-A493-10A-01D-A24F-08 g.chr19:45885959C>G c.2274G>C c.(2272-2274)atG>atC p.M758I LUAD 19 45889086 45889086 + Missense_Mutation SNP C C T TCGA-55-8506-01A-11D-2393-08 TCGA-55-8506-10A-01D-2393-08 g.chr19:45889086C>T c.2077G>A c.(2077-2079)Ggc>Agc p.G693S LUAD 19 45895418 45895418 + Missense_Mutation SNP C C A TCGA-62-A46P-01A-11D-A24D-08 TCGA-62-A46P-10A-01D-A24F-08 g.chr19:45895418C>A c.1535G>T c.(1534-1536)cGg>cTg p.R512L LUAD 19 45895537 45895537 + Silent SNP T T A TCGA-55-8094-01A-11D-2238-08 TCGA-55-8094-10A-01D-2238-08 g.chr19:45895537T>A c.1416A>T c.(1414-1416)ccA>ccT p.P472P LUAD 19 45899438 45899438 + Silent SNP C C T TCGA-17-Z036-01A-01W-0746-08 TCGA-17-Z036-11A-01W-0746-08 g.chr19:45899438C>T c.891G>A c.(889-891)ggG>ggA p.G297G LUAD 19 45899517 45899517 + Splice_Site SNP C C A TCGA-55-8506-01A-11D-2393-08 TCGA-55-8506-10A-01D-2393-08 g.chr19:45899517C>A c.812G>T c.(811-813)cGc>cTc p.R271L LUAD 19 45899652 45899652 + Missense_Mutation SNP T T A TCGA-99-8028-01A-11D-2238-08 TCGA-99-8028-10A-01D-2238-08 g.chr19:45899652T>A c.755A>T c.(754-756)gAg>gTg p.E252V LUAD 19 45899844 45899844 + Missense_Mutation SNP C C A TCGA-55-7995-01A-11D-2184-08 TCGA-55-7995-10A-01D-2184-08 g.chr19:45899844C>A c.671G>T c.(670-672)gGc>gTc p.G224V LUAD 19 45899996 45899996 + Silent SNP C C T TCGA-86-A4JF-01A-11D-A24P-08 TCGA-86-A4JF-10A-01D-A24P-08 g.chr19:45899996C>T c.519G>A c.(517-519)acG>acA p.T173T LUAD 19 45900072 45900072 + Missense_Mutation SNP C C A TCGA-55-7913-01B-11D-2238-08 TCGA-55-7913-10A-01D-2238-08 g.chr19:45900072C>A c.443G>T c.(442-444)gGc>gTc p.G148V LUAD 19 45900073 45900073 + Missense_Mutation SNP C C A TCGA-55-7913-01B-11D-2238-08 TCGA-55-7913-10A-01D-2238-08 g.chr19:45900073C>A c.442G>T c.(442-444)Ggc>Tgc p.G148C LUAD 19 45901276 45901276 + Missense_Mutation SNP C C A TCGA-50-5049-01A-01D-1625-08 TCGA-50-5049-10A-01D-1625-08 g.chr19:45901276C>A c.185G>T c.(184-186)gGa>gTa p.G62V LUSC 19 45885788 45885788 + Silent SNP G G A TCGA-46-6026-01A-11D-1817-08 TCGA-46-6026-10A-01D-1817-08 g.chr19:45885788G>A c.2445C>T c.(2443-2445)ttC>ttT p.F815F LUSC 19 45885827 45885827 + Silent SNP C C A TCGA-37-3789-01A-01D-0983-08 TCGA-37-3789-10A-01D-0983-08 g.chr19:45885827C>A c.2406G>T c.(2404-2406)gcG>gcT p.A802A LUSC 19 45888902 45888902 + Silent SNP G G A TCGA-66-2789-01A-01D-0983-08 TCGA-66-2789-11A-01D-0983-08 g.chr19:45888902G>A c.2166C>T c.(2164-2166)acC>acT p.T722T LUSC 19 45889145 45889145 + Missense_Mutation SNP T T A TCGA-39-5027-01A-21D-1817-08 TCGA-39-5027-11A-01D-1817-08 g.chr19:45889145T>A c.2018A>T c.(2017-2019)tAc>tTc p.Y673F LUSC 19 45895149 45895149 + Missense_Mutation SNP G G C TCGA-66-2778-01A-02D-1522-08 TCGA-66-2778-11A-01D-1522-08 g.chr19:45895149G>C c.1804C>G c.(1804-1806)Ccg>Gcg p.P602A LUSC 19 45895260 45895260 + Missense_Mutation SNP C C G TCGA-22-5478-01A-01D-1632-08 TCGA-22-5478-11A-11D-1632-08 g.chr19:45895260C>G c.1693G>C c.(1693-1695)Gag>Cag p.E565Q LUSC 19 45899466 45899466 + Nonsense_Mutation SNP C C T TCGA-22-4599-01A-01D-1441-08 TCGA-22-4599-11A-01D-1441-08 g.chr19:45899466C>T c.863G>A c.(862-864)tGg>tAg p.W288* LUSC 19 45899647 45899647 + Missense_Mutation SNP C C T TCGA-66-2793-01A-01D-1267-08 TCGA-66-2793-11A-01D-1267-08 g.chr19:45899647C>T c.760G>A c.(760-762)Gac>Aac p.D254N LUSC 19 45899676 45899676 + Missense_Mutation SNP C C T TCGA-60-2722-01A-01D-1522-08 TCGA-60-2722-11A-01D-1522-08 g.chr19:45899676C>T c.731G>A c.(730-732)cGg>cAg p.R244Q LUSC 19 45899860 45899860 + Missense_Mutation SNP C C A TCGA-43-6143-01A-11D-1817-08 TCGA-43-6143-11A-01D-1817-08 g.chr19:45899860C>A c.655G>T c.(655-657)Ggg>Tgg p.G219W OV 19 45899641 45899641 + Missense_Mutation SNP C C A TCGA-13-2071-01A-02D-1526-09 TCGA-13-2071-10A-01D-1526-09 g.chr19:45899641C>A c.766G>T c.(766-768)Gac>Tac p.D256Y PAAD 19 45885941 45885941 + Silent SNP G G A TCGA-IB-7651-01A-11D-2154-08 TCGA-IB-7651-10A-01D-2154-08 g.chr19:45885941G>A c.2292C>T c.(2290-2292)taC>taT p.Y764Y PAAD 19 45888926 45888926 + Silent SNP C C T TCGA-IB-7651-01A-11D-2154-08 TCGA-IB-7651-10A-01D-2154-08 g.chr19:45888926C>T c.2142G>A c.(2140-2142)caG>caA p.Q714Q PAAD 19 45889369 45889369 + Missense_Mutation SNP C C T TCGA-IB-7651-01A-11D-2154-08 TCGA-IB-7651-10A-01D-2154-08 g.chr19:45889369C>T c.1885G>A c.(1885-1887)Gtg>Atg p.V629M PCPG 19 45885941 45885941 + Silent SNP G G A TCGA-SQ-A6I6-01A-11D-A35I-08 TCGA-SQ-A6I6-10A-01D-A35G-08 g.chr19:45885941G>A c.2292C>T c.(2290-2292)taC>taT p.Y764Y PCPG 19 45900240 45900240 + Missense_Mutation SNP C C G TCGA-QR-A70Q-01A-13D-A35D-08 TCGA-QR-A70Q-10A-01D-A35B-08 g.chr19:45900240C>G c.275G>C c.(274-276)gGc>gCc p.G92A PRAD 19 45888875 45888875 + Silent SNP G G A TCGA-J9-A52C-01A-11D-A26M-08 TCGA-J9-A52C-10A-01D-A26K-08 g.chr19:45888875G>A c.2193C>T c.(2191-2193)ttC>ttT p.F731F PRAD 19 45888900 45888900 + Missense_Mutation SNP G G A TCGA-XK-AAIW-01A-11D-A41K-08 TCGA-XK-AAIW-10A-01D-A41N-08 g.chr19:45888900G>A c.2168C>T c.(2167-2169)aCg>aTg p.T723M PRAD 19 45895240 45895240 + Missense_Mutation SNP C C A TCGA-J9-A52C-01A-11D-A26M-08 TCGA-J9-A52C-10A-01D-A26K-08 g.chr19:45895240C>A c.1713G>T c.(1711-1713)gaG>gaT p.E571D SARC 19 45895455 45895455 + Missense_Mutation SNP C C T TCGA-QC-A7B5-01A-11D-A33E-09 TCGA-QC-A7B5-11A-11D-A33H-09 g.chr19:45895455C>T c.1498G>A c.(1498-1500)Gag>Aag p.E500K SARC 19 45899667 45899667 + Missense_Mutation SNP G G A TCGA-QC-A7B5-01A-11D-A33E-09 TCGA-QC-A7B5-11A-11D-A33H-09 g.chr19:45899667G>A c.740C>T c.(739-741)cCg>cTg p.P247L SARC 19 45899668 45899668 + Missense_Mutation SNP G G A TCGA-QC-A7B5-01A-11D-A33E-09 TCGA-QC-A7B5-11A-11D-A33H-09 g.chr19:45899668G>A c.739C>T c.(739-741)Ccg>Tcg p.P247S SKCM 19 45885815 45885815 + Silent SNP C C T TCGA-EE-A180-06A-11D-A21A-08 TCGA-EE-A180-10B-01D-A21A-08 g.chr19:45885815C>T c.2418G>A c.(2416-2418)caG>caA p.Q806Q SKCM 19 45885952 45885952 + Missense_Mutation SNP C C T TCGA-EE-A3AC-06A-11D-A196-08 TCGA-EE-A3AC-10A-01D-A198-08 g.chr19:45885952C>T c.2281G>A c.(2281-2283)Ggg>Agg p.G761R SKCM 19 45885983 45885983 + Splice_Site SNP G G A TCGA-D9-A6E9-06A-12D-A30X-08 TCGA-D9-A6E9-10A-01D-A30X-08 g.chr19:45885983G>A c.2250C>T c.(2248-2250)gaC>gaT p.D750D SKCM 19 45885983 45885983 + Splice_Site SNP G G A TCGA-OD-A75X-06A-12D-A32N-08 TCGA-OD-A75X-10A-01D-A32N-08 g.chr19:45885983G>A c.2250C>T c.(2248-2250)gaC>gaT p.D750D SKCM 19 45895188 45895188 + Missense_Mutation SNP G G A TCGA-EE-A3AE-06A-11D-A196-08 TCGA-EE-A3AE-10A-01D-A198-08 g.chr19:45895188G>A c.1765C>T c.(1765-1767)Cca>Tca p.P589S SKCM 19 45895188 45895188 + Missense_Mutation SNP G G A TCGA-FW-A3R5-06A-11D-A23B-08 TCGA-FW-A3R5-10A-01D-A23B-08 g.chr19:45895188G>A c.1765C>T c.(1765-1767)Cca>Tca p.P589S SKCM 19 45895246 45895246 + Silent SNP G G A TCGA-FS-A1ZQ-06A-11D-A197-08 TCGA-FS-A1ZQ-10A-01D-A199-08 g.chr19:45895246G>A c.1707C>T c.(1705-1707)atC>atT p.I569I SKCM 19 45895296 45895296 + Missense_Mutation SNP G G A TCGA-EE-A29B-06A-11D-A197-08 TCGA-EE-A29B-10A-01D-A199-08 g.chr19:45895296G>A c.1657C>T c.(1657-1659)Cgt>Tgt p.R553C SKCM 19 45895344 45895344 + Missense_Mutation SNP G G A TCGA-EE-A2MI-06A-11D-A197-08 TCGA-EE-A2MI-10A-01D-A199-08 g.chr19:45895344G>A c.1609C>T c.(1609-1611)Cct>Tct p.P537S SKCM 19 45895345 45895345 + Silent SNP G G A TCGA-EE-A2MI-06A-11D-A197-08 TCGA-EE-A2MI-10A-01D-A199-08 g.chr19:45895345G>A c.1608C>T c.(1606-1608)ccC>ccT p.P536P SKCM 19 45895485 45895485 + Missense_Mutation SNP G G A TCGA-DA-A1HY-06A-11D-A19A-08 TCGA-DA-A1HY-10A-01D-A19A-08 g.chr19:45895485G>A c.1468C>T c.(1468-1470)Ccc>Tcc p.P490S SKCM 19 45895485 45895485 + Missense_Mutation SNP G G A TCGA-EE-A3J5-06A-11D-A20D-08 TCGA-EE-A3J5-10A-01D-A20D-08 g.chr19:45895485G>A c.1468C>T c.(1468-1470)Ccc>Tcc p.P490S SKCM 19 45898706 45898706 + Missense_Mutation SNP G G A TCGA-GF-A3OT-06A-23D-A23B-08 TCGA-GF-A3OT-10A-01D-A23B-08 g.chr19:45898706G>A c.1342C>T c.(1342-1344)Cct>Tct p.P448S SKCM 19 45898936 45898936 + Missense_Mutation SNP G G A TCGA-D9-A6EC-06A-11D-A30X-08 TCGA-D9-A6EC-10A-01D-A30X-08 g.chr19:45898936G>A c.1112C>T c.(1111-1113)cCc>cTc p.P371L SKCM 19 45899467 45899467 + Missense_Mutation SNP A A T TCGA-EE-A29L-06A-12D-A196-08 TCGA-EE-A29L-10A-01D-A198-08 g.chr19:45899467A>T c.862T>A c.(862-864)Tgg>Agg p.W288R SKCM 19 45899670 45899670 + Missense_Mutation SNP G G A TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 g.chr19:45899670G>A c.737C>T c.(736-738)cCt>cTt p.P246L SKCM 19 45899951 45899951 + Silent SNP G G A TCGA-EE-A2M5-06A-12D-A197-08 TCGA-EE-A2M5-10A-01D-A199-08 g.chr19:45899951G>A c.564C>T c.(562-564)ccC>ccT p.P188P SKCM 19 45899952 45899952 + Missense_Mutation SNP G G A TCGA-EE-A2M5-06A-12D-A197-08 TCGA-EE-A2M5-10A-01D-A199-08 g.chr19:45899952G>A c.563C>T c.(562-564)cCc>cTc p.P188L SKCM 19 45901270 45901270 + Missense_Mutation SNP G G A TCGA-EE-A2M5-06A-12D-A197-08 TCGA-EE-A2M5-10A-01D-A199-08 g.chr19:45901270G>A c.191C>T c.(190-192)cCt>cTt p.P64L

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 19 45909934 45909934 single base substitution G A upstream_gene_variant BLCA-CN 19 45911754 45911754 single base substitution A G upstream_gene_variant BLCA-US 19 45895489 45895489 single base substitution G A downstream_gene_variant BLCA-US 19 45895489 45895489 single base substitution G A exon_variant BLCA-US 19 45895489 45895489 single base substitution G A synonymous_variant L488L 1464C>T BLCA-US 19 45895561 45895561 single base substitution C T downstream_gene_variant BLCA-US 19 45895561 45895561 single base substitution C T exon_variant BLCA-US 19 45895561 45895561 single base substitution C T synonymous_variant P464P 1392G>A BLCA-US 19 45899596 45899596 single base substitution G A downstream_gene_variant BLCA-US 19 45899596 45899596 single base substitution G A missense_variant R271C 811C>T BLCA-US 19 45899596 45899596 single base substitution G A splice_region_variant BLCA-US 19 45899596 45899596 single base substitution G A upstream_gene_variant BLCA-US 19 45899848 45899848 single base substitution G A downstream_gene_variant BLCA-US 19 45899848 45899848 single base substitution G A exon_variant BLCA-US 19 45899848 45899848 single base substitution G A synonymous_variant L223L 667C>T BLCA-US 19 45899848 45899848 single base substitution G A upstream_gene_variant BLCA-US 19 45910365 45910365 deletion of <=200bp C - upstream_gene_variant BLCA-US 19 45910367 45910367 single base substitution C T upstream_gene_variant BLCA-US 19 45912513 45912513 single base substitution G C upstream_gene_variant BOCA-FR 19 45894638 45894638 single base substitution C T downstream_gene_variant BOCA-FR 19 45894638 45894638 single base substitution C T intron_variant BOCA-FR 19 45911358 45911358 single base substitution T A upstream_gene_variant BRCA-EU 19 45877931 45877931 single base substitution A G downstream_gene_variant BRCA-EU 19 45879250 45879250 single base substitution C A downstream_gene_variant BRCA-EU 19 45879667 45879667 single base substitution G T downstream_gene_variant BRCA-EU 19 45880580 45880580 single base substitution A G downstream_gene_variant BRCA-EU 19 45880607 45880607 single base substitution C T downstream_gene_variant BRCA-EU 19 45881361 45881361 single base substitution C T downstream_gene_variant BRCA-EU 19 45881498 45881498 single base substitution T C downstream_gene_variant BRCA-EU 19 45882842 45882842 single base substitution C T downstream_gene_variant BRCA-EU 19 45883050 45883050 single base substitution G A 3_prime_UTR_variant BRCA-EU 19 45883050 45883050 single base substitution G A downstream_gene_variant BRCA-EU 19 45883050 45883050 single base substitution G A exon_variant BRCA-EU 19 45883050 45883050 single base substitution G A synonymous_variant L67L 201C>T BRCA-EU 19 45883179 45883179 single base substitution C T 3_prime_UTR_variant BRCA-EU 19 45883179 45883179 single base substitution C T downstream_gene_variant BRCA-EU 19 45883179 45883179 single base substitution C T exon_variant BRCA-EU 19 45883179 45883179 single base substitution C T synonymous_variant P24P 72G>A BRCA-EU 19 45885637 45885637 single base substitution C G downstream_gene_variant BRCA-EU 19 45885637 45885637 single base substitution C G intron_variant BRCA-EU 19 45886659 45886659 single base substitution T A intron_variant BRCA-EU 19 45886659 45886659 single base substitution T A upstream_gene_variant BRCA-EU 19 45887286 45887286 single base substitution A C intron_variant BRCA-EU 19 45887286 45887286 single base substitution A C upstream_gene_variant BRCA-EU 19 45888346 45888346 single base substitution G C intron_variant BRCA-EU 19 45888346 45888346 single base substitution G C upstream_gene_variant BRCA-EU 19 45888512 45888512 single base substitution G T intron_variant BRCA-EU 19 45888512 45888512 single base substitution G T upstream_gene_variant BRCA-EU 19 45888727 45888727 single base substitution C T intron_variant BRCA-EU 19 45888727 45888727 single base substitution C T upstream_gene_variant BRCA-EU 19 45889490 45889490 single base substitution C T intron_variant BRCA-EU 19 45889490 45889490 single base substitution C T upstream_gene_variant BRCA-EU 19 45890327 45890327 single base substitution G C intron_variant BRCA-EU 19 45890327 45890327 single base substitution G C upstream_gene_variant BRCA-EU 19 45890403 45890403 single base substitution G A intron_variant BRCA-EU 19 45890403 45890403 single base substitution G A upstream_gene_variant BRCA-EU 19 45892593 45892593 single base substitution G A intron_variant BRCA-EU 19 45892593 45892593 single base substitution G A upstream_gene_variant BRCA-EU 19 45893077 45893077 single base substitution G A downstream_gene_variant BRCA-EU 19 45893077 45893077 single base substitution G A intron_variant BRCA-EU 19 45893077 45893077 single base substitution G A upstream_gene_variant BRCA-EU 19 45893078 45893078 single base substitution G A downstream_gene_variant BRCA-EU 19 45893078 45893078 single base substitution G A intron_variant BRCA-EU 19 45893078 45893078 single base substitution G A upstream_gene_variant BRCA-EU 19 45893904 45893904 single base substitution C T downstream_gene_variant BRCA-EU 19 45893904 45893904 single base substitution C T intron_variant BRCA-EU 19 45893904 45893904 single base substitution C T upstream_gene_variant BRCA-EU 19 45895270 45895270 deletion of <=200bp C - downstream_gene_variant BRCA-EU 19 45895270 45895270 deletion of <=200bp C - exon_variant BRCA-EU 19 45895270 45895270 deletion of <=200bp C - frameshift_variant G561 BRCA-EU 19 45896202 45896202 single base substitution T G downstream_gene_variant BRCA-EU 19 45896202 45896202 single base substitution T G exon_variant BRCA-EU 19 45896202 45896202 single base substitution T G intron_variant BRCA-EU 19 45896222 45896222 single base substitution G C downstream_gene_variant BRCA-EU 19 45896222 45896222 single base substitution G C exon_variant BRCA-EU 19 45896222 45896222 single base substitution G C intron_variant BRCA-EU 19 45896393 45896393 single base substitution G A downstream_gene_variant BRCA-EU 19 45896393 45896393 single base substitution G A exon_variant BRCA-EU 19 45896393 45896393 single base substitution G A intron_variant BRCA-EU 19 45896551 45896552 deletion of <=200bp AC - downstream_gene_variant BRCA-EU 19 45896551 45896552 deletion of <=200bp AC - intron_variant BRCA-EU 19 45896551 45896552 deletion of <=200bp AC - upstream_gene_variant BRCA-EU 19 45896633 45896633 single base substitution G A downstream_gene_variant BRCA-EU 19 45896633 45896633 single base substitution G A intron_variant BRCA-EU 19 45896633 45896633 single base substitution G A upstream_gene_variant BRCA-EU 19 45896952 45896952 single base substitution G A downstream_gene_variant BRCA-EU 19 45896952 45896952 single base substitution G A intron_variant BRCA-EU 19 45896952 45896952 single base substitution G A upstream_gene_variant BRCA-EU 19 45898471 45898471 single base substitution C A downstream_gene_variant BRCA-EU 19 45898471 45898471 single base substitution C A exon_variant BRCA-EU 19 45898471 45898471 single base substitution C A intron_variant BRCA-EU 19 45898471 45898471 single base substitution C A upstream_gene_variant BRCA-EU 19 45898611 45898611 single base substitution C T downstream_gene_variant BRCA-EU 19 45898611 45898611 single base substitution C T exon_variant BRCA-EU 19 45898611 45898611 single base substitution C T intron_variant BRCA-EU 19 45898611 45898611 single base substitution C T upstream_gene_variant BRCA-EU 19 45899693 45899693 single base substitution G A downstream_gene_variant BRCA-EU 19 45899693 45899693 single base substitution G A splice_region_variant BRCA-EU 19 45899693 45899693 single base substitution G A upstream_gene_variant BRCA-EU 19 45900151 45900151 single base substitution G A downstream_gene_variant BRCA-EU 19 45900151 45900151 single base substitution G A exon_variant BRCA-EU 19 45900151 45900151 single base substitution G A missense_variant R122C 364C>T BRCA-EU 19 45900151 45900151 single base substitution G A upstream_gene_variant BRCA-EU 19 45900152 45900152 single base substitution C G downstream_gene_variant BRCA-EU 19 45900152 45900152 single base substitution C G exon_variant BRCA-EU 19 45900152 45900152 single base substitution C G synonymous_variant P121P 363G>C BRCA-EU 19 45900152 45900152 single base substitution C G upstream_gene_variant BRCA-EU 19 45901567 45901567 single base substitution C T exon_variant BRCA-EU 19 45901567 45901567 single base substitution C T missense_variant E4K 10G>A BRCA-EU 19 45903193 45903193 single base substitution C T intron_variant BRCA-EU 19 45903355 45903355 single base substitution C T intron_variant BRCA-EU 19 45904341 45904341 single base substitution T C intron_variant BRCA-EU 19 45904973 45904973 single base substitution T C intron_variant BRCA-EU 19 45904976 45904976 single base substitution C G intron_variant BRCA-EU 19 45905977 45905977 single base substitution C T intron_variant BRCA-EU 19 45906045 45906045 single base substitution C G intron_variant BRCA-EU 19 45906861 45906861 single base substitution C G intron_variant BRCA-EU 19 45906876 45906876 single base substitution C T intron_variant BRCA-EU 19 45906991 45906991 single base substitution C T intron_variant BRCA-EU 19 45907152 45907152 single base substitution C T intron_variant BRCA-EU 19 45907444 45907444 single base substitution T G intron_variant BRCA-EU 19 45908961 45908961 single base substitution G A intron_variant BRCA-EU 19 45908961 45908961 single base substitution G A upstream_gene_variant BRCA-EU 19 45909232 45909232 single base substitution G C intron_variant BRCA-EU 19 45909232 45909232 single base substitution G C upstream_gene_variant BRCA-EU 19 45909774 45909774 single base substitution C T upstream_gene_variant BRCA-EU 19 45910272 45910272 single base substitution C G upstream_gene_variant BRCA-EU 19 45914116 45914116 single base substitution C G upstream_gene_variant BRCA-FR 19 45885637 45885637 single base substitution C G downstream_gene_variant BRCA-FR 19 45885637 45885637 single base substitution C G intron_variant BRCA-FR 19 45896633 45896633 single base substitution G A downstream_gene_variant BRCA-FR 19 45896633 45896633 single base substitution G A intron_variant BRCA-FR 19 45896633 45896633 single base substitution G A upstream_gene_variant BRCA-KR 19 45885920 45885920 single base substitution G A exon_variant BRCA-KR 19 45885920 45885920 single base substitution G A intron_variant BRCA-KR 19 45885920 45885920 single base substitution G A synonymous_variant A771A 2313C>T BRCA-KR 19 45885920 45885920 single base substitution G A upstream_gene_variant BRCA-UK 19 45880607 45880607 single base substitution C T downstream_gene_variant BRCA-UK 19 45889120 45889120 single base substitution G A exon_variant BRCA-UK 19 45889120 45889120 single base substitution G A synonymous_variant T681T 2043C>T BRCA-UK 19 45889120 45889120 single base substitution G A upstream_gene_variant BRCA-UK 19 45906045 45906045 single base substitution C G intron_variant BRCA-UK 19 45910367 45910367 single base substitution C G upstream_gene_variant BRCA-US 19 45885896 45885896 single base substitution G C exon_variant BRCA-US 19 45885896 45885896 single base substitution G C intron_variant BRCA-US 19 45885896 45885896 single base substitution G C missense_variant F779L 2337C>G BRCA-US 19 45885896 45885896 single base substitution G C upstream_gene_variant BRCA-US 19 45889119 45889119 single base substitution C T exon_variant BRCA-US 19 45889119 45889119 single base substitution C T missense_variant A682T 2044G>A BRCA-US 19 45889119 45889119 single base substitution C T upstream_gene_variant BRCA-US 19 45900186 45900186 single base substitution C T downstream_gene_variant BRCA-US 19 45900186 45900186 single base substitution C T exon_variant BRCA-US 19 45900186 45900186 single base substitution C T missense_variant S110N 329G>A BRCA-US 19 45900186 45900186 single base substitution C T upstream_gene_variant BRCA-US 19 45912334 45912334 single base substitution G A upstream_gene_variant BRCA-US 19 45912507 45912507 deletion of <=200bp G - upstream_gene_variant BTCA-JP 19 45886078 45886078 single base substitution C T intron_variant BTCA-JP 19 45886078 45886078 single base substitution C T upstream_gene_variant BTCA-JP 19 45889544 45889544 single base substitution G T intron_variant BTCA-JP 19 45889544 45889544 single base substitution G T upstream_gene_variant BTCA-JP 19 45895219 45895219 single base substitution C T downstream_gene_variant BTCA-JP 19 45895219 45895219 single base substitution C T exon_variant BTCA-JP 19 45895219 45895219 single base substitution C T synonymous_variant G578G 1734G>A BTCA-JP 19 45895562 45895562 single base substitution G A downstream_gene_variant BTCA-JP 19 45895562 45895562 single base substitution G A exon_variant BTCA-JP 19 45895562 45895562 single base substitution G A missense_variant P464L 1391C>T BTCA-JP 19 45899436 45899436 deletion of <=200bp C - downstream_gene_variant BTCA-JP 19 45899436 45899436 deletion of <=200bp C - exon_variant BTCA-JP 19 45899436 45899436 deletion of <=200bp C - frameshift_variant G298 BTCA-JP 19 45899436 45899436 deletion of <=200bp C - upstream_gene_variant BTCA-JP 19 45899935 45899935 deletion of <=200bp G - downstream_gene_variant BTCA-JP 19 45899935 45899935 deletion of <=200bp G - exon_variant BTCA-JP 19 45899935 45899935 deletion of <=200bp G - frameshift_variant Q194 BTCA-JP 19 45899935 45899935 deletion of <=200bp G - upstream_gene_variant BTCA-JP 19 45900083 45900083 single base substitution G A downstream_gene_variant BTCA-JP 19 45900083 45900083 single base substitution G A exon_variant BTCA-JP 19 45900083 45900083 single base substitution G A synonymous_variant R144R 432C>T BTCA-JP 19 45900083 45900083 single base substitution G A upstream_gene_variant BTCA-JP 19 45911319 45911319 single base substitution C A upstream_gene_variant BTCA-JP 19 45911320 45911320 single base substitution A C upstream_gene_variant CESC-US 19 45895174 45895174 single base substitution C T downstream_gene_variant CESC-US 19 45895174 45895174 single base substitution C T exon_variant CESC-US 19 45895174 45895174 single base substitution C T synonymous_variant P593P 1779G>A CESC-US 19 45895303 45895303 single base substitution G A downstream_gene_variant CESC-US 19 45895303 45895303 single base substitution G A exon_variant CESC-US 19 45895303 45895303 single base substitution G A synonymous_variant L550L 1650C>T CESC-US 19 45912270 45912270 single base substitution G C upstream_gene_variant CESC-US 19 45912703 45912703 single base substitution G A upstream_gene_variant CLLE-ES 19 45900769 45900769 insertion of <=200bp - TTTG downstream_gene_variant CLLE-ES 19 45900769 45900769 insertion of <=200bp - TTTG intron_variant CLLE-ES 19 45900769 45900769 insertion of <=200bp - TTTG upstream_gene_variant COAD-US 19 45888969 45888969 single base substitution G A exon_variant COAD-US 19 45888969 45888969 single base substitution G A missense_variant A700V 2099C>T COAD-US 19 45888969 45888969 single base substitution G A upstream_gene_variant COAD-US 19 45889350 45889350 single base substitution G A exon_variant COAD-US 19 45889350 45889350 single base substitution G A missense_variant A635V 1904C>T COAD-US 19 45889350 45889350 single base substitution G A upstream_gene_variant COAD-US 19 45895182 45895182 single base substitution G A downstream_gene_variant COAD-US 19 45895182 45895182 single base substitution G A exon_variant COAD-US 19 45895182 45895182 single base substitution G A missense_variant P591S 1771C>T COAD-US 19 45898730 45898730 deletion of <=200bp G - downstream_gene_variant COAD-US 19 45898730 45898730 deletion of <=200bp G - exon_variant COAD-US 19 45898730 45898730 deletion of <=200bp G - frameshift_variant Q440 COAD-US 19 45898730 45898730 deletion of <=200bp G - upstream_gene_variant COAD-US 19 45912002 45912002 single base substitution A C upstream_gene_variant COAD-US 19 45912257 45912257 single base substitution C T upstream_gene_variant COAD-US 19 45912343 45912343 single base substitution A G upstream_gene_variant COAD-US 19 45912490 45912492 deletion of <=200bp AAG - upstream_gene_variant COCA-CN 19 45886078 45886078 single base substitution C T intron_variant COCA-CN 19 45886078 45886078 single base substitution C T upstream_gene_variant COCA-CN 19 45888866 45888866 single base substitution G A exon_variant COCA-CN 19 45888866 45888866 single base substitution G A synonymous_variant C3C 9C>T COCA-CN 19 45888866 45888866 single base substitution G A synonymous_variant C734C 2202C>T COCA-CN 19 45888866 45888866 single base substitution G A upstream_gene_variant COCA-CN 19 45888963 45888963 single base substitution G A exon_variant COCA-CN 19 45888963 45888963 single base substitution G A missense_variant S702L 2105C>T COCA-CN 19 45888963 45888963 single base substitution G A upstream_gene_variant COCA-CN 19 45898954 45898954 single base substitution G A downstream_gene_variant COCA-CN 19 45898954 45898954 single base substitution G A exon_variant COCA-CN 19 45898954 45898954 single base substitution G A missense_variant P365L 1094C>T COCA-CN 19 45898954 45898954 single base substitution G A upstream_gene_variant COCA-CN 19 45899680 45899680 single base substitution G A downstream_gene_variant COCA-CN 19 45899680 45899680 single base substitution G A exon_variant COCA-CN 19 45899680 45899680 single base substitution G A missense_variant R243C 727C>T COCA-CN 19 45899680 45899680 single base substitution G A upstream_gene_variant COCA-CN 19 45899819 45899819 single base substitution C T downstream_gene_variant COCA-CN 19 45899819 45899819 single base substitution C T exon_variant COCA-CN 19 45899819 45899819 single base substitution C T synonymous_variant P232P 696G>A COCA-CN 19 45899819 45899819 single base substitution C T upstream_gene_variant COCA-CN 19 45899861 45899861 single base substitution G A downstream_gene_variant COCA-CN 19 45899861 45899861 single base substitution G A exon_variant COCA-CN 19 45899861 45899861 single base substitution G A synonymous_variant F218F 654C>T COCA-CN 19 45899861 45899861 single base substitution G A upstream_gene_variant COCA-CN 19 45900032 45900032 single base substitution G A downstream_gene_variant COCA-CN 19 45900032 45900032 single base substitution G A exon_variant COCA-CN 19 45900032 45900032 single base substitution G A synonymous_variant P161P 483C>T COCA-CN 19 45900032 45900032 single base substitution G A upstream_gene_variant COCA-CN 19 45900196 45900196 single base substitution G A downstream_gene_variant COCA-CN 19 45900196 45900196 single base substitution G A exon_variant COCA-CN 19 45900196 45900196 single base substitution G A missense_variant H107Y 319C>T COCA-CN 19 45900196 45900196 single base substitution G A upstream_gene_variant COCA-CN 19 45900245 45900245 single base substitution G A downstream_gene_variant COCA-CN 19 45900245 45900245 single base substitution G A exon_variant COCA-CN 19 45900245 45900245 single base substitution G A synonymous_variant T90T 270C>T COCA-CN 19 45900245 45900245 single base substitution G A upstream_gene_variant COCA-CN 19 45900273 45900273 single base substitution C A downstream_gene_variant COCA-CN 19 45900273 45900273 single base substitution C A exon_variant COCA-CN 19 45900273 45900273 single base substitution C A missense_variant S81I 242G>T COCA-CN 19 45900273 45900273 single base substitution C A upstream_gene_variant COCA-CN 19 45901568 45901568 single base substitution G A exon_variant COCA-CN 19 45901568 45901568 single base substitution G A synonymous_variant S3S 9C>T COCA-CN 19 45911320 45911320 single base substitution A C upstream_gene_variant EOPC-DE 19 45893341 45893341 single base substitution G A downstream_gene_variant EOPC-DE 19 45893341 45893341 single base substitution G A intron_variant EOPC-DE 19 45893341 45893341 single base substitution G A upstream_gene_variant ESAD-UK 19 45879001 45879001 single base substitution G C downstream_gene_variant ESAD-UK 19 45879731 45879731 single base substitution A C downstream_gene_variant ESAD-UK 19 45879735 45879735 insertion of <=200bp - A downstream_gene_variant ESAD-UK 19 45880313 45880313 single base substitution T C downstream_gene_variant ESAD-UK 19 45881125 45881125 deletion of <=200bp A - downstream_gene_variant ESAD-UK 19 45881718 45881718 single base substitution G A downstream_gene_variant ESAD-UK 19 45882593 45882593 single base substitution C T downstream_gene_variant ESAD-UK 19 45884866 45884866 single base substitution C T downstream_gene_variant ESAD-UK 19 45884866 45884866 single base substitution C T intron_variant ESAD-UK 19 45885821 45885821 single base substitution G A downstream_gene_variant ESAD-UK 19 45885821 45885821 single base substitution G A exon_variant ESAD-UK 19 45885821 45885821 single base substitution G A intron_variant ESAD-UK 19 45885821 45885821 single base substitution G A synonymous_variant H10H 30C>T ESAD-UK 19 45885821 45885821 single base substitution G A synonymous_variant H804H 2412C>T ESAD-UK 19 45885894 45885894 single base substitution C T exon_variant ESAD-UK 19 45885894 45885894 single base substitution C T intron_variant ESAD-UK 19 45885894 45885894 single base substitution C T missense_variant R780H 2339G>A ESAD-UK 19 45885894 45885894 single base substitution C T upstream_gene_variant ESAD-UK 19 45886429 45886429 single base substitution T G intron_variant ESAD-UK 19 45886429 45886429 single base substitution T G upstream_gene_variant ESAD-UK 19 45886744 45886744 single base substitution G T intron_variant ESAD-UK 19 45886744 45886744 single base substitution G T upstream_gene_variant ESAD-UK 19 45886825 45886825 single base substitution T G intron_variant ESAD-UK 19 45886825 45886825 single base substitution T G upstream_gene_variant ESAD-UK 19 45888100 45888100 single base substitution C T intron_variant ESAD-UK 19 45888100 45888100 single base substitution C T upstream_gene_variant ESAD-UK 19 45888927 45888927 single base substitution T G exon_variant ESAD-UK 19 45888927 45888927 single base substitution T G missense_variant Q714P 2141A>C ESAD-UK 19 45888927 45888927 single base substitution T G upstream_gene_variant ESAD-UK 19 45890956 45890956 single base substitution G T intron_variant ESAD-UK 19 45890956 45890956 single base substitution G T upstream_gene_variant ESAD-UK 19 45890992 45890992 single base substitution G A intron_variant ESAD-UK 19 45890992 45890992 single base substitution G A upstream_gene_variant ESAD-UK 19 45892556 45892556 single base substitution T G intron_variant ESAD-UK 19 45892556 45892556 single base substitution T G upstream_gene_variant ESAD-UK 19 45896190 45896190 single base substitution G A downstream_gene_variant ESAD-UK 19 45896190 45896190 single base substitution G A exon_variant ESAD-UK 19 45896190 45896190 single base substitution G A intron_variant ESAD-UK 19 45896248 45896248 single base substitution A T downstream_gene_variant ESAD-UK 19 45896248 45896248 single base substitution A T exon_variant ESAD-UK 19 45896248 45896248 single base substitution A T intron_variant ESAD-UK 19 45899879 45899879 single base substitution G A downstream_gene_variant ESAD-UK 19 45899879 45899879 single base substitution G A exon_variant ESAD-UK 19 45899879 45899879 single base substitution G A synonymous_variant D212D 636C>T ESAD-UK 19 45899879 45899879 single base substitution G A upstream_gene_variant ESAD-UK 19 45900251 45900251 single base substitution C T downstream_gene_variant ESAD-UK 19 45900251 45900251 single base substitution C T exon_variant ESAD-UK 19 45900251 45900251 single base substitution C T synonymous_variant A88A 264G>A ESAD-UK 19 45900251 45900251 single base substitution C T upstream_gene_variant ESAD-UK 19 45905194 45905194 deletion of <=200bp A - intron_variant ESAD-UK 19 45906252 45906252 single base substitution G A intron_variant ESAD-UK 19 45906568 45906568 single base substitution T C intron_variant ESAD-UK 19 45908791 45908791 single base substitution G T intron_variant ESAD-UK 19 45908791 45908791 single base substitution G T upstream_gene_variant ESAD-UK 19 45908801 45908801 single base substitution C T intron_variant ESAD-UK 19 45908801 45908801 single base substitution C T upstream_gene_variant ESAD-UK 19 45910085 45910085 single base substitution A T upstream_gene_variant ESAD-UK 19 45910895 45910895 single base substitution T C upstream_gene_variant ESAD-UK 19 45911919 45911919 single base substitution G A upstream_gene_variant ESAD-UK 19 45914121 45914121 single base substitution G A upstream_gene_variant ESAD-UK 19 45914231 45914231 single base substitution G A upstream_gene_variant ESCA-CN 19 45889153 45889153 single base substitution G A exon_variant ESCA-CN 19 45889153 45889153 single base substitution G A synonymous_variant G670G 2010C>T ESCA-CN 19 45889153 45889153 single base substitution G A upstream_gene_variant ESCA-CN 19 45912678 45912678 single base substitution G A upstream_gene_variant ESCA-CN 19 45912754 45912754 single base substitution G A upstream_gene_variant GBM-US 19 45911859 45911861 deletion of <=200bp GAA - upstream_gene_variant GBM-US 19 45912970 45912970 single base substitution A G upstream_gene_variant KIRC-US 19 45901534 45901534 single base substitution T C exon_variant KIRC-US 19 45901534 45901534 single base substitution T C missense_variant M15V 43A>G KIRC-US 19 45912490 45912492 deletion of <=200bp AAG - upstream_gene_variant KIRP-US 19 45911859 45911861 deletion of <=200bp GAA - upstream_gene_variant LAML-KR 19 45912343 45912343 single base substitution A G upstream_gene_variant LGG-US 19 45885827 45885827 single base substitution C T exon_variant LGG-US 19 45885827 45885827 single base substitution C T intron_variant LGG-US 19 45885827 45885827 single base substitution C T synonymous_variant A802A 2406G>A LGG-US 19 45885827 45885827 single base substitution C T synonymous_variant A8A 24G>A LGG-US 19 45895364 45895364 single base substitution G A downstream_gene_variant LGG-US 19 45895364 45895364 single base substitution G A exon_variant LGG-US 19 45895364 45895364 single base substitution G A missense_variant A530V 1589C>T LGG-US 19 45911859 45911861 deletion of <=200bp GAA - upstream_gene_variant LICA-CN 19 45895553 45895553 single base substitution T A downstream_gene_variant LICA-CN 19 45895553 45895553 single base substitution T A exon_variant LICA-CN 19 45895553 45895553 single base substitution T A missense_variant E467V 1400A>T LICA-CN 19 45895561 45895561 single base substitution C T downstream_gene_variant LICA-CN 19 45895561 45895561 single base substitution C T exon_variant LICA-CN 19 45895561 45895561 single base substitution C T synonymous_variant P464P 1392G>A LICA-CN 19 45900085 45900085 single base substitution G T downstream_gene_variant LICA-CN 19 45900085 45900085 single base substitution G T exon_variant LICA-CN 19 45900085 45900085 single base substitution G T missense_variant R144S 430C>A LICA-CN 19 45900085 45900085 single base substitution G T upstream_gene_variant LICA-FR 19 45885922 45885922 single base substitution C A exon_variant LICA-FR 19 45885922 45885922 single base substitution C A intron_variant LICA-FR 19 45885922 45885922 single base substitution C A missense_variant A771S 2311G>T LICA-FR 19 45885922 45885922 single base substitution C A upstream_gene_variant LICA-FR 19 45889109 45889109 single base substitution T C exon_variant LICA-FR 19 45889109 45889109 single base substitution T C missense_variant N685S 2054A>G LICA-FR 19 45889109 45889109 single base substitution T C upstream_gene_variant LICA-FR 19 45895270 45895270 single base substitution C T downstream_gene_variant LICA-FR 19 45895270 45895270 single base substitution C T exon_variant LICA-FR 19 45895270 45895270 single base substitution C T synonymous_variant G561G 1683G>A LICA-FR 19 45899629 45899629 single base substitution C T downstream_gene_variant LICA-FR 19 45899629 45899629 single base substitution C T exon_variant LICA-FR 19 45899629 45899629 single base substitution C T missense_variant E260K 778G>A LICA-FR 19 45899629 45899629 single base substitution C T upstream_gene_variant LICA-FR 19 45899895 45899895 deletion of <=200bp G - downstream_gene_variant LICA-FR 19 45899895 45899895 deletion of <=200bp G - exon_variant LICA-FR 19 45899895 45899895 deletion of <=200bp G - frameshift_variant P207 LICA-FR 19 45899895 45899895 deletion of <=200bp G - upstream_gene_variant LICA-FR 19 45899940 45899940 single base substitution C T downstream_gene_variant LICA-FR 19 45899940 45899940 single base substitution C T exon_variant LICA-FR 19 45899940 45899940 single base substitution C T missense_variant G192E 575G>A LICA-FR 19 45899940 45899940 single base substitution C T upstream_gene_variant LICA-FR 19 45899944 45899944 single base substitution C T downstream_gene_variant LICA-FR 19 45899944 45899944 single base substitution C T exon_variant LICA-FR 19 45899944 45899944 single base substitution C T missense_variant E191K 571G>A LICA-FR 19 45899944 45899944 single base substitution C T upstream_gene_variant LIHC-US 19 45898840 45898840 single base substitution G C downstream_gene_variant LIHC-US 19 45898840 45898840 single base substitution G C exon_variant LIHC-US 19 45898840 45898840 single base substitution G C missense_variant P403R 1208C>G LIHC-US 19 45898840 45898840 single base substitution G C upstream_gene_variant LIHC-US 19 45911586 45911586 single base substitution T C upstream_gene_variant LINC-JP 19 45883421 45883421 single base substitution C A 3_prime_UTR_variant LINC-JP 19 45883421 45883421 single base substitution C A downstream_gene_variant LINC-JP 19 45883421 45883421 single base substitution C A exon_variant LINC-JP 19 45883421 45883421 single base substitution C A intron_variant LINC-JP 19 45899855 45899855 single base substitution G A downstream_gene_variant LINC-JP 19 45899855 45899855 single base substitution G A exon_variant LINC-JP 19 45899855 45899855 single base substitution G A synonymous_variant S220S 660C>T LINC-JP 19 45899855 45899855 single base substitution G A upstream_gene_variant LINC-JP 19 45900388 45900388 single base substitution G C downstream_gene_variant LINC-JP 19 45900388 45900388 single base substitution G C intron_variant LINC-JP 19 45900388 45900388 single base substitution G C upstream_gene_variant LIRI-JP 19 45878819 45878819 single base substitution T A downstream_gene_variant LIRI-JP 19 45879792 45879792 single base substitution C T downstream_gene_variant LIRI-JP 19 45880283 45880283 single base substitution G A downstream_gene_variant LIRI-JP 19 45880358 45880358 single base substitution T C downstream_gene_variant LIRI-JP 19 45881599 45881599 single base substitution G A downstream_gene_variant LIRI-JP 19 45881834 45881834 single base substitution A G downstream_gene_variant LIRI-JP 19 45884562 45884562 single base substitution C A downstream_gene_variant LIRI-JP 19 45884562 45884562 single base substitution C A intron_variant LIRI-JP 19 45887691 45887691 single base substitution C A intron_variant LIRI-JP 19 45887691 45887691 single base substitution C A upstream_gene_variant LIRI-JP 19 45888800 45888800 single base substitution C A intron_variant LIRI-JP 19 45888800 45888800 single base substitution C A upstream_gene_variant LIRI-JP 19 45891011 45891011 single base substitution G A intron_variant LIRI-JP 19 45891011 45891011 single base substitution G A upstream_gene_variant LIRI-JP 19 45891963 45891963 single base substitution T C intron_variant LIRI-JP 19 45891963 45891963 single base substitution T C upstream_gene_variant LIRI-JP 19 45892634 45892634 single base substitution G T intron_variant LIRI-JP 19 45892634 45892634 single base substitution G T upstream_gene_variant LIRI-JP 19 45893825 45893825 single base substitution A G downstream_gene_variant LIRI-JP 19 45893825 45893825 single base substitution A G intron_variant LIRI-JP 19 45893825 45893825 single base substitution A G upstream_gene_variant LIRI-JP 19 45893843 45893843 single base substitution C T downstream_gene_variant LIRI-JP 19 45893843 45893843 single base substitution C T intron_variant LIRI-JP 19 45893843 45893843 single base substitution C T upstream_gene_variant LIRI-JP 19 45894131 45894131 single base substitution C A downstream_gene_variant LIRI-JP 19 45894131 45894131 single base substitution C A intron_variant LIRI-JP 19 45894131 45894131 single base substitution C A upstream_gene_variant LIRI-JP 19 45895204 45895204 single base substitution G A downstream_gene_variant LIRI-JP 19 45895204 45895204 single base substitution G A exon_variant LIRI-JP 19 45895204 45895204 single base substitution G A synonymous_variant A583A 1749C>T LIRI-JP 19 45897354 45897354 single base substitution T G downstream_gene_variant LIRI-JP 19 45897354 45897354 single base substitution T G intron_variant LIRI-JP 19 45897354 45897354 single base substitution T G upstream_gene_variant LIRI-JP 19 45898392 45898392 single base substitution C G downstream_gene_variant LIRI-JP 19 45898392 45898392 single base substitution C G exon_variant LIRI-JP 19 45898392 45898392 single base substitution C G intron_variant LIRI-JP 19 45898392 45898392 single base substitution C G upstream_gene_variant LIRI-JP 19 45900783 45900783 single base substitution C T downstream_gene_variant LIRI-JP 19 45900783 45900783 single base substitution C T intron_variant LIRI-JP 19 45900783 45900783 single base substitution C T upstream_gene_variant LIRI-JP 19 45902473 45902473 single base substitution T C intron_variant LIRI-JP 19 45902890 45902890 single base substitution C T intron_variant LIRI-JP 19 45909434 45909434 single base substitution C A intron_variant LIRI-JP 19 45909434 45909434 single base substitution C A upstream_gene_variant LIRI-JP 19 45910167 45910167 single base substitution G A upstream_gene_variant LIRI-JP 19 45911921 45911921 single base substitution C T upstream_gene_variant LUSC-KR 19 45880200 45880200 single base substitution G A downstream_gene_variant LUSC-KR 19 45881585 45881585 single base substitution C A downstream_gene_variant LUSC-KR 19 45889450 45889450 single base substitution G A intron_variant LUSC-KR 19 45889450 45889450 single base substitution G A upstream_gene_variant LUSC-KR 19 45889452 45889452 single base substitution C A intron_variant LUSC-KR 19 45889452 45889452 single base substitution C A upstream_gene_variant LUSC-KR 19 45889593 45889593 single base substitution C G intron_variant LUSC-KR 19 45889593 45889593 single base substitution C G upstream_gene_variant LUSC-KR 19 45889960 45889960 single base substitution C G intron_variant LUSC-KR 19 45889960 45889960 single base substitution C G upstream_gene_variant LUSC-KR 19 45893988 45893988 single base substitution C A downstream_gene_variant LUSC-KR 19 45893988 45893988 single base substitution C A intron_variant LUSC-KR 19 45893988 45893988 single base substitution C A upstream_gene_variant LUSC-KR 19 45897913 45897913 single base substitution T C downstream_gene_variant LUSC-KR 19 45897913 45897913 single base substitution T C exon_variant LUSC-KR 19 45897913 45897913 single base substitution T C intron_variant LUSC-KR 19 45897913 45897913 single base substitution T C upstream_gene_variant LUSC-KR 19 45898224 45898224 single base substitution C T downstream_gene_variant LUSC-KR 19 45898224 45898224 single base substitution C T exon_variant LUSC-KR 19 45898224 45898224 single base substitution C T intron_variant LUSC-KR 19 45898224 45898224 single base substitution C T upstream_gene_variant LUSC-KR 19 45899018 45899018 single base substitution G A downstream_gene_variant LUSC-KR 19 45899018 45899018 single base substitution G A exon_variant LUSC-KR 19 45899018 45899018 single base substitution G A missense_variant R344C 1030C>T LUSC-KR 19 45899018 45899018 single base substitution G A upstream_gene_variant LUSC-KR 19 45900095 45900095 single base substitution C A downstream_gene_variant LUSC-KR 19 45900095 45900095 single base substitution C A exon_variant LUSC-KR 19 45900095 45900095 single base substitution C A synonymous_variant S140S 420G>T LUSC-KR 19 45900095 45900095 single base substitution C A upstream_gene_variant LUSC-KR 19 45901058 45901058 single base substitution C G downstream_gene_variant LUSC-KR 19 45901058 45901058 single base substitution C G intron_variant LUSC-KR 19 45901058 45901058 single base substitution C G upstream_gene_variant LUSC-KR 19 45901138 45901138 single base substitution C G downstream_gene_variant LUSC-KR 19 45901138 45901138 single base substitution C G intron_variant LUSC-KR 19 45901138 45901138 single base substitution C G upstream_gene_variant LUSC-KR 19 45903760 45903760 single base substitution G A intron_variant LUSC-KR 19 45907249 45907249 single base substitution G A intron_variant LUSC-KR 19 45907584 45907584 single base substitution G A intron_variant LUSC-KR 19 45908440 45908440 single base substitution C T intron_variant LUSC-KR 19 45908440 45908440 single base substitution C T upstream_gene_variant LUSC-KR 19 45912511 45912511 single base substitution G C upstream_gene_variant LUSC-KR 19 45912612 45912612 single base substitution G C upstream_gene_variant LUSC-KR 19 45913462 45913462 single base substitution G C upstream_gene_variant LUSC-US 19 45885788 45885788 single base substitution G A downstream_gene_variant LUSC-US 19 45885788 45885788 single base substitution G A exon_variant LUSC-US 19 45885788 45885788 single base substitution G A intron_variant LUSC-US 19 45885788 45885788 single base substitution G A synonymous_variant F21F 63C>T LUSC-US 19 45885788 45885788 single base substitution G A synonymous_variant F815F 2445C>T LUSC-US 19 45885827 45885827 single base substitution C A exon_variant LUSC-US 19 45885827 45885827 single base substitution C A intron_variant LUSC-US 19 45885827 45885827 single base substitution C A synonymous_variant A802A 2406G>T LUSC-US 19 45885827 45885827 single base substitution C A synonymous_variant A8A 24G>T LUSC-US 19 45888902 45888902 single base substitution G A exon_variant LUSC-US 19 45888902 45888902 single base substitution G A synonymous_variant T722T 2166C>T LUSC-US 19 45888902 45888902 single base substitution G A upstream_gene_variant LUSC-US 19 45889145 45889145 single base substitution T A exon_variant LUSC-US 19 45889145 45889145 single base substitution T A missense_variant Y673F 2018A>T LUSC-US 19 45889145 45889145 single base substitution T A upstream_gene_variant LUSC-US 19 45895149 45895149 single base substitution G C downstream_gene_variant LUSC-US 19 45895149 45895149 single base substitution G C exon_variant LUSC-US 19 45895149 45895149 single base substitution G C missense_variant P602A 1804C>G LUSC-US 19 45895260 45895260 single base substitution C G downstream_gene_variant LUSC-US 19 45895260 45895260 single base substitution C G exon_variant LUSC-US 19 45895260 45895260 single base substitution C G missense_variant E565Q 1693G>C LUSC-US 19 45899466 45899466 single base substitution C T downstream_gene_variant LUSC-US 19 45899466 45899466 single base substitution C T exon_variant LUSC-US 19 45899466 45899466 single base substitution C T stop_gained W288* 863G>A LUSC-US 19 45899466 45899466 single base substitution C T upstream_gene_variant LUSC-US 19 45899647 45899647 single base substitution C T downstream_gene_variant LUSC-US 19 45899647 45899647 single base substitution C T exon_variant LUSC-US 19 45899647 45899647 single base substitution C T missense_variant D254N 760G>A LUSC-US 19 45899647 45899647 single base substitution C T upstream_gene_variant LUSC-US 19 45899676 45899676 single base substitution C T downstream_gene_variant LUSC-US 19 45899676 45899676 single base substitution C T exon_variant LUSC-US 19 45899676 45899676 single base substitution C T missense_variant R244Q 731G>A LUSC-US 19 45899676 45899676 single base substitution C T upstream_gene_variant LUSC-US 19 45899860 45899860 single base substitution C A downstream_gene_variant LUSC-US 19 45899860 45899860 single base substitution C A exon_variant LUSC-US 19 45899860 45899860 single base substitution C A missense_variant G219W 655G>T LUSC-US 19 45899860 45899860 single base substitution C A upstream_gene_variant MALY-DE 19 45881110 45881110 insertion of <=200bp - T downstream_gene_variant MALY-DE 19 45891973 45891973 deletion of <=200bp T - intron_variant MALY-DE 19 45891973 45891973 deletion of <=200bp T - upstream_gene_variant MALY-DE 19 45898579 45898579 single base substitution A C downstream_gene_variant MALY-DE 19 45898579 45898579 single base substitution A C exon_variant MALY-DE 19 45898579 45898579 single base substitution A C intron_variant MALY-DE 19 45898579 45898579 single base substitution A C upstream_gene_variant MALY-DE 19 45899333 45899333 single base substitution G A downstream_gene_variant MALY-DE 19 45899333 45899333 single base substitution G A intron_variant MALY-DE 19 45899333 45899333 single base substitution G A upstream_gene_variant MELA-AU 19 45877993 45877993 single base substitution C T downstream_gene_variant MELA-AU 19 45879087 45879087 single base substitution G A downstream_gene_variant MELA-AU 19 45879170 45879170 single base substitution G A downstream_gene_variant MELA-AU 19 45879190 45879190 single base substitution C T downstream_gene_variant MELA-AU 19 45879234 45879234 single base substitution G A downstream_gene_variant MELA-AU 19 45879320 45879320 single base substitution G A downstream_gene_variant MELA-AU 19 45879702 45879702 single base substitution G A downstream_gene_variant MELA-AU 19 45879710 45879711 multiple base substitution (>=2bp and <=200bp) GG AT downstream_gene_variant MELA-AU 19 45879719 45879719 single base substitution C T downstream_gene_variant MELA-AU 19 45880096 45880096 single base substitution G A downstream_gene_variant MELA-AU 19 45880623 45880623 single base substitution C G downstream_gene_variant MELA-AU 19 45880868 45880868 single base substitution G A downstream_gene_variant MELA-AU 19 45880969 45880969 single base substitution C T downstream_gene_variant MELA-AU 19 45881070 45881070 single base substitution C T downstream_gene_variant MELA-AU 19 45881234 45881234 single base substitution C T downstream_gene_variant MELA-AU 19 45881348 45881348 single base substitution C T downstream_gene_variant MELA-AU 19 45881557 45881557 single base substitution G A downstream_gene_variant MELA-AU 19 45881721 45881721 single base substitution T C downstream_gene_variant MELA-AU 19 45882455 45882455 single base substitution G A downstream_gene_variant MELA-AU 19 45882464 45882464 single base substitution G A downstream_gene_variant MELA-AU 19 45883509 45883509 single base substitution G A downstream_gene_variant MELA-AU 19 45883509 45883509 single base substitution G A intron_variant MELA-AU 19 45883768 45883768 single base substitution C T downstream_gene_variant MELA-AU 19 45883768 45883768 single base substitution C T intron_variant MELA-AU 19 45883971 45883971 single base substitution G A downstream_gene_variant MELA-AU 19 45883971 45883971 single base substitution G A intron_variant MELA-AU 19 45884107 45884107 single base substitution C G downstream_gene_variant MELA-AU 19 45884107 45884107 single base substitution C G intron_variant MELA-AU 19 45884436 45884436 single base substitution C T downstream_gene_variant MELA-AU 19 45884436 45884436 single base substitution C T intron_variant MELA-AU 19 45884905 45884905 single base substitution C T downstream_gene_variant MELA-AU 19 45884905 45884905 single base substitution C T intron_variant MELA-AU 19 45885574 45885574 single base substitution T A downstream_gene_variant MELA-AU 19 45885574 45885574 single base substitution T A intron_variant MELA-AU 19 45885624 45885624 single base substitution G A downstream_gene_variant MELA-AU 19 45885624 45885624 single base substitution G A intron_variant MELA-AU 19 45885999 45885999 single base substitution G A intron_variant MELA-AU 19 45885999 45885999 single base substitution G A upstream_gene_variant MELA-AU 19 45886004 45886004 single base substitution G A intron_variant MELA-AU 19 45886004 45886004 single base substitution G A upstream_gene_variant MELA-AU 19 45886035 45886035 single base substitution G A intron_variant MELA-AU 19 45886035 45886035 single base substitution G A upstream_gene_variant MELA-AU 19 45886070 45886070 single base substitution G A intron_variant MELA-AU 19 45886070 45886070 single base substitution G A upstream_gene_variant MELA-AU 19 45886149 45886149 single base substitution G A intron_variant MELA-AU 19 45886149 45886149 single base substitution G A upstream_gene_variant MELA-AU 19 45886191 45886191 single base substitution G A intron_variant MELA-AU 19 45886191 45886191 single base substitution G A upstream_gene_variant MELA-AU 19 45886465 45886465 single base substitution G A intron_variant MELA-AU 19 45886465 45886465 single base substitution G A upstream_gene_variant MELA-AU 19 45886606 45886607 multiple base substitution (>=2bp and <=200bp) GG AA intron_variant MELA-AU 19 45886606 45886607 multiple base substitution (>=2bp and <=200bp) GG AA upstream_gene_variant MELA-AU 19 45886914 45886938 deletion of <=200bp CCTACCCTGGCGCTTAGCTTAAGTG - intron_variant MELA-AU 19 45886914 45886938 deletion of <=200bp CCTACCCTGGCGCTTAGCTTAAGTG - upstream_gene_variant MELA-AU 19 45887083 45887083 single base substitution G A intron_variant MELA-AU 19 45887083 45887083 single base substitution G A upstream_gene_variant MELA-AU 19 45887129 45887129 single base substitution C T intron_variant MELA-AU 19 45887129 45887129 single base substitution C T upstream_gene_variant MELA-AU 19 45887332 45887332 single base substitution C T intron_variant MELA-AU 19 45887332 45887332 single base substitution C T upstream_gene_variant MELA-AU 19 45887387 45887387 single base substitution G A intron_variant MELA-AU 19 45887387 45887387 single base substitution G A upstream_gene_variant MELA-AU 19 45887571 45887571 single base substitution G A intron_variant MELA-AU 19 45887571 45887571 single base substitution G A upstream_gene_variant MELA-AU 19 45887881 45887881 single base substitution G A intron_variant MELA-AU 19 45887881 45887881 single base substitution G A upstream_gene_variant MELA-AU 19 45888222 45888222 single base substitution G A intron_variant MELA-AU 19 45888222 45888222 single base substitution G A upstream_gene_variant MELA-AU 19 45888402 45888402 single base substitution C T intron_variant MELA-AU 19 45888402 45888402 single base substitution C T upstream_gene_variant MELA-AU 19 45888519 45888519 single base substitution T C intron_variant MELA-AU 19 45888519 45888519 single base substitution T C upstream_gene_variant MELA-AU 19 45889590 45889590 single base substitution G A intron_variant MELA-AU 19 45889590 45889590 single base substitution G A upstream_gene_variant MELA-AU 19 45889685 45889685 single base substitution C T intron_variant MELA-AU 19 45889685 45889685 single base substitution C T upstream_gene_variant MELA-AU 19 45890114 45890114 single base substitution G A intron_variant MELA-AU 19 45890114 45890114 single base substitution G A upstream_gene_variant MELA-AU 19 45890302 45890302 single base substitution G A intron_variant MELA-AU 19 45890302 45890302 single base substitution G A upstream_gene_variant MELA-AU 19 45890768 45890768 single base substitution G A intron_variant MELA-AU 19 45890768 45890768 single base substitution G A upstream_gene_variant MELA-AU 19 45890810 45890810 single base substitution C T intron_variant MELA-AU 19 45890810 45890810 single base substitution C T upstream_gene_variant MELA-AU 19 45890974 45890974 single base substitution G A intron_variant MELA-AU 19 45890974 45890974 single base substitution G A upstream_gene_variant MELA-AU 19 45891207 45891207 single base substitution G A intron_variant MELA-AU 19 45891207 45891207 single base substitution G A upstream_gene_variant MELA-AU 19 45892213 45892213 single base substitution C T intron_variant MELA-AU 19 45892213 45892213 single base substitution C T upstream_gene_variant MELA-AU 19 45892860 45892860 single base substitution G A intron_variant MELA-AU 19 45892860 45892860 single base substitution G A upstream_gene_variant MELA-AU 19 45893251 45893251 single base substitution C T downstream_gene_variant MELA-AU 19 45893251 45893251 single base substitution C T intron_variant MELA-AU 19 45893251 45893251 single base substitution C T upstream_gene_variant MELA-AU 19 45893376 45893377 multiple base substitution (>=2bp and <=200bp) TC AG downstream_gene_variant MELA-AU 19 45893376 45893377 multiple base substitution (>=2bp and <=200bp) TC AG intron_variant MELA-AU 19 45893376 45893377 multiple base substitution (>=2bp and <=200bp) TC AG upstream_gene_variant MELA-AU 19 45894041 45894041 single base substitution A C downstream_gene_variant MELA-AU 19 45894041 45894041 single base substitution A C intron_variant MELA-AU 19 45894041 45894041 single base substitution A C upstream_gene_variant MELA-AU 19 45894701 45894701 single base substitution G A downstream_gene_variant MELA-AU 19 45894701 45894701 single base substitution G A intron_variant MELA-AU 19 45895025 45895025 single base substitution C A downstream_gene_variant MELA-AU 19 45895025 45895025 single base substitution C A intron_variant MELA-AU 19 45895176 45895176 single base substitution G A downstream_gene_variant MELA-AU 19 45895176 45895176 single base substitution G A exon_variant MELA-AU 19 45895176 45895176 single base substitution G A missense_variant P593S 1777C>T MELA-AU 19 45895188 45895188 single base substitution G A downstream_gene_variant MELA-AU 19 45895188 45895188 single base substitution G A exon_variant MELA-AU 19 45895188 45895188 single base substitution G A missense_variant P589S 1765C>T MELA-AU 19 45895288 45895288 single base substitution C T downstream_gene_variant MELA-AU 19 45895288 45895288 single base substitution C T exon_variant MELA-AU 19 45895288 45895288 single base substitution C T synonymous_variant G555G 1665G>A MELA-AU 19 45895401 45895401 single base substitution G A downstream_gene_variant MELA-AU 19 45895401 45895401 single base substitution G A exon_variant MELA-AU 19 45895401 45895401 single base substitution G A missense_variant P518S 1552C>T MELA-AU 19 45895598 45895598 single base substitution C T downstream_gene_variant MELA-AU 19 45895598 45895598 single base substitution C T exon_variant MELA-AU 19 45895598 45895598 single base substitution C T missense_variant G452E 1355G>A MELA-AU 19 45895939 45895939 single base substitution G A downstream_gene_variant MELA-AU 19 45895939 45895939 single base substitution G A exon_variant MELA-AU 19 45895939 45895939 single base substitution G A intron_variant MELA-AU 19 45896347 45896347 single base substitution G A downstream_gene_variant MELA-AU 19 45896347 45896347 single base substitution G A exon_variant MELA-AU 19 45896347 45896347 single base substitution G A intron_variant MELA-AU 19 45896635 45896635 single base substitution G A downstream_gene_variant MELA-AU 19 45896635 45896635 single base substitution G A intron_variant MELA-AU 19 45896635 45896635 single base substitution G A upstream_gene_variant MELA-AU 19 45896855 45896855 deletion of <=200bp G - downstream_gene_variant MELA-AU 19 45896855 45896855 deletion of <=200bp G - intron_variant MELA-AU 19 45896855 45896855 deletion of <=200bp G - upstream_gene_variant MELA-AU 19 45896859 45896859 single base substitution A G downstream_gene_variant MELA-AU 19 45896859 45896859 single base substitution A G intron_variant MELA-AU 19 45896859 45896859 single base substitution A G upstream_gene_variant MELA-AU 19 45897057 45897057 single base substitution G A downstream_gene_variant MELA-AU 19 45897057 45897057 single base substitution G A intron_variant MELA-AU 19 45897057 45897057 single base substitution G A upstream_gene_variant MELA-AU 19 45897116 45897141 deletion of <=200bp ACTCTGTCTCAAAAAAAAAGAGTGAA - downstream_gene_variant MELA-AU 19 45897116 45897141 deletion of <=200bp ACTCTGTCTCAAAAAAAAAGAGTGAA - intron_variant MELA-AU 19 45897116 45897141 deletion of <=200bp ACTCTGTCTCAAAAAAAAAGAGTGAA - upstream_gene_variant MELA-AU 19 45897350 45897350 single base substitution G A downstream_gene_variant MELA-AU 19 45897350 45897350 single base substitution G A intron_variant MELA-AU 19 45897350 45897350 single base substitution G A upstream_gene_variant MELA-AU 19 45897394 45897394 single base substitution G A downstream_gene_variant MELA-AU 19 45897394 45897394 single base substitution G A intron_variant MELA-AU 19 45897394 45897394 single base substitution G A upstream_gene_variant MELA-AU 19 45898000 45898000 single base substitution G A downstream_gene_variant MELA-AU 19 45898000 45898000 single base substitution G A exon_variant MELA-AU 19 45898000 45898000 single base substitution G A intron_variant MELA-AU 19 45898000 45898000 single base substitution G A upstream_gene_variant MELA-AU 19 45898025 45898025 single base substitution C T downstream_gene_variant MELA-AU 19 45898025 45898025 single base substitution C T exon_variant MELA-AU 19 45898025 45898025 single base substitution C T intron_variant MELA-AU 19 45898025 45898025 single base substitution C T upstream_gene_variant MELA-AU 19 45898088 45898088 single base substitution G A downstream_gene_variant MELA-AU 19 45898088 45898088 single base substitution G A exon_variant MELA-AU 19 45898088 45898088 single base substitution G A intron_variant MELA-AU 19 45898088 45898088 single base substitution G A upstream_gene_variant MELA-AU 19 45898547 45898547 single base substitution C T downstream_gene_variant MELA-AU 19 45898547 45898547 single base substitution C T exon_variant MELA-AU 19 45898547 45898547 single base substitution C T intron_variant MELA-AU 19 45898547 45898547 single base substitution C T upstream_gene_variant MELA-AU 19 45898675 45898675 single base substitution G A downstream_gene_variant MELA-AU 19 45898675 45898675 single base substitution G A exon_variant MELA-AU 19 45898675 45898675 single base substitution G A intron_variant MELA-AU 19 45898675 45898675 single base substitution G A upstream_gene_variant MELA-AU 19 45899169 45899169 single base substitution G A downstream_gene_variant MELA-AU 19 45899169 45899169 single base substitution G A intron_variant MELA-AU 19 45899169 45899169 single base substitution G A upstream_gene_variant MELA-AU 19 45899203 45899203 single base substitution A G downstream_gene_variant MELA-AU 19 45899203 45899203 single base substitution A G intron_variant MELA-AU 19 45899203 45899203 single base substitution A G upstream_gene_variant MELA-AU 19 45899332 45899332 single base substitution C T downstream_gene_variant MELA-AU 19 45899332 45899332 single base substitution C T intron_variant MELA-AU 19 45899332 45899332 single base substitution C T upstream_gene_variant MELA-AU 19 45899467 45899467 single base substitution A T downstream_gene_variant MELA-AU 19 45899467 45899467 single base substitution A T exon_variant MELA-AU 19 45899467 45899467 single base substitution A T missense_variant W288R 862T>A MELA-AU 19 45899467 45899467 single base substitution A T upstream_gene_variant MELA-AU 19 45899670 45899670 single base substitution G A downstream_gene_variant MELA-AU 19 45899670 45899670 single base substitution G A exon_variant MELA-AU 19 45899670 45899670 single base substitution G A missense_variant P246L 737C>T MELA-AU 19 45899670 45899670 single base substitution G A upstream_gene_variant MELA-AU 19 45899796 45899796 single base substitution G A downstream_gene_variant MELA-AU 19 45899796 45899796 single base substitution G A splice_region_variant MELA-AU 19 45899796 45899796 single base substitution G A upstream_gene_variant MELA-AU 19 45900278 45900278 single base substitution G A downstream_gene_variant MELA-AU 19 45900278 45900278 single base substitution G A exon_variant MELA-AU 19 45900278 45900278 single base substitution G A synonymous_variant F79F 237C>T MELA-AU 19 45900278 45900278 single base substitution G A upstream_gene_variant MELA-AU 19 45900346 45900346 single base substitution G A downstream_gene_variant MELA-AU 19 45900346 45900346 single base substitution G A intron_variant MELA-AU 19 45900346 45900346 single base substitution G A upstream_gene_variant MELA-AU 19 45901074 45901074 single base substitution C T downstream_gene_variant MELA-AU 19 45901074 45901074 single base substitution C T intron_variant MELA-AU 19 45901074 45901074 single base substitution C T upstream_gene_variant MELA-AU 19 45901270 45901270 single base substitution G A downstream_gene_variant MELA-AU 19 45901270 45901270 single base substitution G A exon_variant MELA-AU 19 45901270 45901270 single base substitution G A missense_variant P64L 191C>T MELA-AU 19 45901270 45901270 single base substitution G A upstream_gene_variant MELA-AU 19 45901318 45901318 single base substitution G A exon_variant MELA-AU 19 45901318 45901318 single base substitution G A missense_variant S48L 143C>T MELA-AU 19 45901318 45901318 single base substitution G A upstream_gene_variant MELA-AU 19 45901450 45901451 multiple base substitution (>=2bp and <=200bp) GG AA intron_variant MELA-AU 19 45902059 45902059 single base substitution C T intron_variant MELA-AU 19 45902146 45902146 single base substitution G A intron_variant MELA-AU 19 45902428 45902428 single base substitution C T intron_variant MELA-AU 19 45902890 45902890 single base substitution C T intron_variant MELA-AU 19 45902996 45902996 single base substitution G A intron_variant MELA-AU 19 45903566 45903566 single base substitution G A intron_variant MELA-AU 19 45903650 45903650 single base substitution T G intron_variant MELA-AU 19 45903658 45903658 single base substitution C T intron_variant MELA-AU 19 45904388 45904388 single base substitution G A intron_variant MELA-AU 19 45904468 45904468 single base substitution C T intron_variant MELA-AU 19 45904589 45904589 single base substitution G A intron_variant MELA-AU 19 45904610 45904610 single base substitution C T intron_variant MELA-AU 19 45905079 45905079 single base substitution C T intron_variant MELA-AU 19 45905521 45905521 single base substitution G C intron_variant MELA-AU 19 45906257 45906257 single base substitution G A intron_variant MELA-AU 19 45906746 45906746 single base substitution G A intron_variant MELA-AU 19 45906867 45906867 single base substitution G A intron_variant MELA-AU 19 45906998 45906998 single base substitution G A intron_variant MELA-AU 19 45907341 45907341 single base substitution C T intron_variant MELA-AU 19 45907581 45907581 single base substitution G A intron_variant MELA-AU 19 45908090 45908090 single base substitution C T intron_variant MELA-AU 19 45908164 45908164 single base substitution G A intron_variant MELA-AU 19 45908436 45908436 single base substitution G A intron_variant MELA-AU 19 45908436 45908436 single base substitution G A upstream_gene_variant MELA-AU 19 45908440 45908440 single base substitution C T intron_variant MELA-AU 19 45908440 45908440 single base substitution C T upstream_gene_variant MELA-AU 19 45908484 45908484 single base substitution C T intron_variant MELA-AU 19 45908484 45908484 single base substitution C T upstream_gene_variant MELA-AU 19 45908649 45908649 single base substitution C T intron_variant MELA-AU 19 45908649 45908649 single base substitution C T upstream_gene_variant MELA-AU 19 45909179 45909179 single base substitution G A intron_variant MELA-AU 19 45909179 45909179 single base substitution G A upstream_gene_variant MELA-AU 19 45909217 45909217 single base substitution G A intron_variant MELA-AU 19 45909217 45909217 single base substitution G A upstream_gene_variant MELA-AU 19 45909680 45909680 single base substitution G A upstream_gene_variant MELA-AU 19 45909681 45909681 single base substitution G A upstream_gene_variant MELA-AU 19 45909745 45909745 single base substitution G A upstream_gene_variant MELA-AU 19 45909762 45909762 single base substitution C T upstream_gene_variant MELA-AU 19 45910088 45910088 single base substitution A C upstream_gene_variant MELA-AU 19 45912280 45912280 single base substitution C T upstream_gene_variant MELA-AU 19 45913156 45913156 single base substitution T A upstream_gene_variant MELA-AU 19 45913560 45913560 single base substitution G A upstream_gene_variant MELA-AU 19 45913939 45913939 single base substitution C T upstream_gene_variant MELA-AU 19 45914183 45914183 single base substitution G C upstream_gene_variant ORCA-IN 19 45914081 45914081 deletion of <=200bp G - upstream_gene_variant OV-AU 19 45879489 45879489 single base substitution A G downstream_gene_variant OV-AU 19 45885084 45885084 single base substitution G A downstream_gene_variant OV-AU 19 45885084 45885084 single base substitution G A intron_variant OV-AU 19 45887188 45887188 single base substitution T C intron_variant OV-AU 19 45887188 45887188 single base substitution T C upstream_gene_variant OV-AU 19 45887960 45887960 single base substitution A C intron_variant OV-AU 19 45887960 45887960 single base substitution A C upstream_gene_variant OV-AU 19 45891121 45891121 single base substitution T A intron_variant OV-AU 19 45891121 45891121 single base substitution T A upstream_gene_variant OV-AU 19 45892074 45892074 single base substitution C T intron_variant OV-AU 19 45892074 45892074 single base substitution C T upstream_gene_variant OV-AU 19 45893936 45893936 single base substitution C T downstream_gene_variant OV-AU 19 45893936 45893936 single base substitution C T intron_variant OV-AU 19 45893936 45893936 single base substitution C T upstream_gene_variant OV-AU 19 45898640 45898640 single base substitution C G downstream_gene_variant OV-AU 19 45898640 45898640 single base substitution C G exon_variant OV-AU 19 45898640 45898640 single base substitution C G intron_variant OV-AU 19 45898640 45898640 single base substitution C G upstream_gene_variant OV-AU 19 45899373 45899373 single base substitution A C downstream_gene_variant OV-AU 19 45899373 45899373 single base substitution A C intron_variant OV-AU 19 45899373 45899373 single base substitution A C upstream_gene_variant OV-AU 19 45904646 45904646 single base substitution G C intron_variant OV-AU 19 45912812 45912812 single base substitution C G upstream_gene_variant PACA-AU 19 45879489 45879489 single base substitution A G downstream_gene_variant PACA-AU 19 45881781 45881781 single base substitution C T downstream_gene_variant PACA-AU 19 45883437 45883437 single base substitution C T 3_prime_UTR_variant PACA-AU 19 45883437 45883437 single base substitution C T downstream_gene_variant PACA-AU 19 45883437 45883437 single base substitution C T exon_variant PACA-AU 19 45883437 45883437 single base substitution C T intron_variant PACA-AU 19 45884901 45884901 single base substitution G A downstream_gene_variant PACA-AU 19 45884901 45884901 single base substitution G A intron_variant PACA-AU 19 45887283 45887289 deletion of <=200bp CAAAGTG - intron_variant PACA-AU 19 45887283 45887289 deletion of <=200bp CAAAGTG - upstream_gene_variant PACA-AU 19 45891752 45891752 single base substitution G A intron_variant PACA-AU 19 45891752 45891752 single base substitution G A upstream_gene_variant PACA-AU 19 45892502 45892502 single base substitution T G intron_variant PACA-AU 19 45892502 45892502 single base substitution T G upstream_gene_variant PACA-AU 19 45896363 45896363 single base substitution G T downstream_gene_variant PACA-AU 19 45896363 45896363 single base substitution G T exon_variant PACA-AU 19 45896363 45896363 single base substitution G T intron_variant PACA-AU 19 45896466 45896466 single base substitution T C downstream_gene_variant PACA-AU 19 45896466 45896466 single base substitution T C intron_variant PACA-AU 19 45896466 45896466 single base substitution T C upstream_gene_variant PACA-AU 19 45896695 45896695 insertion of <=200bp - A downstream_gene_variant PACA-AU 19 45896695 45896695 insertion of <=200bp - A intron_variant PACA-AU 19 45896695 45896695 insertion of <=200bp - A upstream_gene_variant PACA-AU 19 45896980 45896980 single base substitution A T downstream_gene_variant PACA-AU 19 45896980 45896980 single base substitution A T intron_variant PACA-AU 19 45896980 45896980 single base substitution A T upstream_gene_variant PACA-AU 19 45898885 45898885 single base substitution C A downstream_gene_variant PACA-AU 19 45898885 45898885 single base substitution C A exon_variant PACA-AU 19 45898885 45898885 single base substitution C A missense_variant S388I 1163G>T PACA-AU 19 45898885 45898885 single base substitution C A upstream_gene_variant PACA-AU 19 45907119 45907119 single base substitution G T intron_variant PACA-AU 19 45909950 45909950 single base substitution C T upstream_gene_variant PACA-AU 19 45912206 45912206 single base substitution C T upstream_gene_variant PACA-AU 19 45912526 45912526 single base substitution G A upstream_gene_variant PACA-AU 19 45912764 45912764 deletion of <=200bp C - upstream_gene_variant PACA-AU 19 45913462 45913462 single base substitution G T upstream_gene_variant PACA-CA 19 45878314 45878314 single base substitution G C downstream_gene_variant PACA-CA 19 45881981 45881981 single base substitution A G downstream_gene_variant PACA-CA 19 45883529 45883529 single base substitution C A downstream_gene_variant PACA-CA 19 45883529 45883529 single base substitution C A intron_variant PACA-CA 19 45899879 45899879 single base substitution G A downstream_gene_variant PACA-CA 19 45899879 45899879 single base substitution G A exon_variant PACA-CA 19 45899879 45899879 single base substitution G A synonymous_variant D212D 636C>T PACA-CA 19 45899879 45899879 single base substitution G A upstream_gene_variant PACA-CA 19 45902775 45902775 single base substitution G A intron_variant PACA-CA 19 45905342 45905342 single base substitution G C 5_prime_UTR_premature_start_codon_gain_variant PACA-CA 19 45905342 45905342 single base substitution G C intron_variant PACA-CA 19 45909329 45909350 deletion of <=200bp GCTCCGCCCTCGAGAACCACAA - intron_variant PACA-CA 19 45909329 45909350 deletion of <=200bp GCTCCGCCCTCGAGAACCACAA - upstream_gene_variant PACA-CA 19 45910142 45910142 insertion of <=200bp - G upstream_gene_variant PACA-CA 19 45910307 45910307 single base substitution C A upstream_gene_variant PACA-CA 19 45911745 45911747 deletion of <=200bp GAA - upstream_gene_variant PACA-CA 19 45914072 45914072 insertion of <=200bp - T upstream_gene_variant PAEN-IT 19 45909244 45909244 single base substitution G T intron_variant PAEN-IT 19 45909244 45909244 single base substitution G T upstream_gene_variant PBCA-DE 19 45878333 45878336 deletion of <=200bp AGAA - downstream_gene_variant PBCA-DE 19 45880472 45880472 insertion of <=200bp - T downstream_gene_variant PBCA-DE 19 45880936 45880936 single base substitution A G downstream_gene_variant PBCA-DE 19 45885279 45885279 single base substitution A T downstream_gene_variant PBCA-DE 19 45885279 45885279 single base substitution A T intron_variant PBCA-DE 19 45891328 45891328 single base substitution G A intron_variant PBCA-DE 19 45891328 45891328 single base substitution G A upstream_gene_variant PBCA-DE 19 45891434 45891434 insertion of <=200bp - A intron_variant PBCA-DE 19 45891434 45891434 insertion of <=200bp - A upstream_gene_variant PBCA-DE 19 45891660 45891660 single base substitution T G intron_variant PBCA-DE 19 45891660 45891660 single base substitution T G upstream_gene_variant PBCA-DE 19 45894507 45894507 single base substitution G C downstream_gene_variant PBCA-DE 19 45894507 45894507 single base substitution G C intron_variant PBCA-DE 19 45896435 45896435 single base substitution G C downstream_gene_variant PBCA-DE 19 45896435 45896435 single base substitution G C intron_variant PBCA-DE 19 45896435 45896435 single base substitution G C upstream_gene_variant PBCA-DE 19 45906560 45906560 insertion of <=200bp - T intron_variant PBCA-DE 19 45913824 45913825 deletion of <=200bp TG - upstream_gene_variant PRAD-CA 19 45878312 45878312 single base substitution C G downstream_gene_variant PRAD-CA 19 45892934 45892934 single base substitution G T downstream_gene_variant PRAD-CA 19 45892934 45892934 single base substitution G T intron_variant PRAD-CA 19 45892934 45892934 single base substitution G T upstream_gene_variant PRAD-CA 19 45902526 45902526 single base substitution C T intron_variant PRAD-CA 19 45908768 45908768 single base substitution C G intron_variant PRAD-CA 19 45908768 45908768 single base substitution C G upstream_gene_variant PRAD-CA 19 45910632 45910632 single base substitution C T upstream_gene_variant PRAD-UK 19 45887638 45887638 single base substitution A G intron_variant PRAD-UK 19 45887638 45887638 single base substitution A G upstream_gene_variant PRAD-UK 19 45896551 45896551 insertion of <=200bp - AC downstream_gene_variant PRAD-UK 19 45896551 45896551 insertion of <=200bp - AC intron_variant PRAD-UK 19 45896551 45896551 insertion of <=200bp - AC upstream_gene_variant PRAD-UK 19 45904873 45904873 single base substitution T C intron_variant PRAD-UK 19 45912992 45912992 single base substitution G T upstream_gene_variant PRAD-US 19 45888875 45888875 single base substitution G A 5_prime_UTR_variant PRAD-US 19 45888875 45888875 single base substitution G A exon_variant PRAD-US 19 45888875 45888875 single base substitution G A synonymous_variant F731F 2193C>T PRAD-US 19 45888875 45888875 single base substitution G A upstream_gene_variant PRAD-US 19 45895240 45895240 single base substitution C A downstream_gene_variant PRAD-US 19 45895240 45895240 single base substitution C A exon_variant PRAD-US 19 45895240 45895240 single base substitution C A missense_variant E571D 1713G>T PRAD-US 19 45911859 45911861 deletion of <=200bp GAA - upstream_gene_variant PRAD-US 19 45911967 45911967 single base substitution G A upstream_gene_variant READ-US 19 45911770 45911770 deletion of <=200bp A - upstream_gene_variant RECA-EU 19 45895489 45895489 single base substitution G A downstream_gene_variant RECA-EU 19 45895489 45895489 single base substitution G A exon_variant RECA-EU 19 45895489 45895489 single base substitution G A synonymous_variant L488L 1464C>T RECA-EU 19 45895539 45895539 single base substitution G T downstream_gene_variant RECA-EU 19 45895539 45895539 single base substitution G T exon_variant RECA-EU 19 45895539 45895539 single base substitution G T missense_variant P472T 1414C>A RECA-EU 19 45906727 45906727 single base substitution G A intron_variant SKCA-BR 19 45878971 45878973 deletion of <=200bp ATT - downstream_gene_variant SKCA-BR 19 45880876 45880876 single base substitution G A downstream_gene_variant SKCA-BR 19 45880991 45880991 single base substitution G A downstream_gene_variant SKCA-BR 19 45881805 45881805 single base substitution A T downstream_gene_variant SKCA-BR 19 45883836 45883836 single base substitution G A downstream_gene_variant SKCA-BR 19 45883836 45883836 single base substitution G A intron_variant SKCA-BR 19 45886283 45886283 single base substitution C T intron_variant SKCA-BR 19 45886283 45886283 single base substitution C T upstream_gene_variant SKCA-BR 19 45886822 45886822 single base substitution G A intron_variant SKCA-BR 19 45886822 45886822 single base substitution G A upstream_gene_variant SKCA-BR 19 45887653 45887653 single base substitution C A intron_variant SKCA-BR 19 45887653 45887653 single base substitution C A upstream_gene_variant SKCA-BR 19 45887823 45887823 single base substitution C T intron_variant SKCA-BR 19 45887823 45887823 single base substitution C T upstream_gene_variant SKCA-BR 19 45889465 45889465 single base substitution G A intron_variant SKCA-BR 19 45889465 45889465 single base substitution G A upstream_gene_variant SKCA-BR 19 45889511 45889511 single base substitution G A intron_variant SKCA-BR 19 45889511 45889511 single base substitution G A upstream_gene_variant SKCA-BR 19 45890873 45890873 single base substitution T C intron_variant SKCA-BR 19 45890873 45890873 single base substitution T C upstream_gene_variant SKCA-BR 19 45892239 45892239 single base substitution A C intron_variant SKCA-BR 19 45892239 45892239 single base substitution A C upstream_gene_variant SKCA-BR 19 45892586 45892586 single base substitution G A intron_variant SKCA-BR 19 45892586 45892586 single base substitution G A upstream_gene_variant SKCA-BR 19 45898697 45898697 single base substitution C T downstream_gene_variant SKCA-BR 19 45898697 45898697 single base substitution C T exon_variant SKCA-BR 19 45898697 45898697 single base substitution C T missense_variant E451K 1351G>A SKCA-BR 19 45898697 45898697 single base substitution C T upstream_gene_variant SKCA-BR 19 45901441 45901441 single base substitution C T intron_variant SKCA-BR 19 45901447 45901447 single base substitution A G intron_variant SKCA-BR 19 45901463 45901463 single base substitution A C intron_variant SKCA-BR 19 45902516 45902516 single base substitution A T intron_variant SKCA-BR 19 45903860 45903860 insertion of <=200bp - CT intron_variant SKCA-BR 19 45905742 45905742 single base substitution A G intron_variant SKCA-BR 19 45905756 45905756 single base substitution A G intron_variant SKCA-BR 19 45913153 45913153 single base substitution A T upstream_gene_variant SKCA-BR 19 45913987 45913987 single base substitution T C upstream_gene_variant SKCM-US 19 45885815 45885815 single base substitution C T downstream_gene_variant SKCM-US 19 45885815 45885815 single base substitution C T exon_variant SKCM-US 19 45885815 45885815 single base substitution C T intron_variant SKCM-US 19 45885815 45885815 single base substitution C T synonymous_variant Q12Q 36G>A SKCM-US 19 45885815 45885815 single base substitution C T synonymous_variant Q806Q 2418G>A SKCM-US 19 45885952 45885952 single base substitution C T exon_variant SKCM-US 19 45885952 45885952 single base substitution C T intron_variant SKCM-US 19 45885952 45885952 single base substitution C T missense_variant G761R 2281G>A SKCM-US 19 45885952 45885952 single base substitution C T upstream_gene_variant SKCM-US 19 45885983 45885983 single base substitution G A intron_variant SKCM-US 19 45885983 45885983 single base substitution G A splice_region_variant SKCM-US 19 45885983 45885983 single base substitution G A upstream_gene_variant SKCM-US 19 45895188 45895188 single base substitution G A downstream_gene_variant SKCM-US 19 45895188 45895188 single base substitution G A exon_variant SKCM-US 19 45895188 45895188 single base substitution G A missense_variant P589S 1765C>T SKCM-US 19 45895246 45895246 single base substitution G A downstream_gene_variant SKCM-US 19 45895246 45895246 single base substitution G A exon_variant SKCM-US 19 45895246 45895246 single base substitution G A synonymous_variant I569I 1707C>T SKCM-US 19 45895296 45895296 single base substitution G A downstream_gene_variant SKCM-US 19 45895296 45895296 single base substitution G A exon_variant SKCM-US 19 45895296 45895296 single base substitution G A missense_variant R553C 1657C>T SKCM-US 19 45895485 45895485 single base substitution G A downstream_gene_variant SKCM-US 19 45895485 45895485 single base substitution G A exon_variant SKCM-US 19 45895485 45895485 single base substitution G A missense_variant P490S 1468C>T SKCM-US 19 45898706 45898706 single base substitution G A downstream_gene_variant SKCM-US 19 45898706 45898706 single base substitution G A exon_variant SKCM-US 19 45898706 45898706 single base substitution G A missense_variant P448S 1342C>T SKCM-US 19 45898706 45898706 single base substitution G A upstream_gene_variant SKCM-US 19 45898936 45898936 single base substitution G A downstream_gene_variant SKCM-US 19 45898936 45898936 single base substitution G A exon_variant SKCM-US 19 45898936 45898936 single base substitution G A missense_variant P371L 1112C>T SKCM-US 19 45898936 45898936 single base substitution G A upstream_gene_variant SKCM-US 19 45899670 45899670 single base substitution G A downstream_gene_variant SKCM-US 19 45899670 45899670 single base substitution G A exon_variant SKCM-US 19 45899670 45899670 single base substitution G A missense_variant P246L 737C>T SKCM-US 19 45899670 45899670 single base substitution G A upstream_gene_variant SKCM-US 19 45901270 45901270 single base substitution G A downstream_gene_variant SKCM-US 19 45901270 45901270 single base substitution G A exon_variant SKCM-US 19 45901270 45901270 single base substitution G A missense_variant P64L 191C>T SKCM-US 19 45901270 45901270 single base substitution G A upstream_gene_variant SKCM-US 19 45911859 45911861 deletion of <=200bp GAA - upstream_gene_variant SKCM-US 19 45912178 45912178 single base substitution C T upstream_gene_variant STAD-US 19 45885799 45885799 single base substitution G A downstream_gene_variant STAD-US 19 45885799 45885799 single base substitution G A exon_variant STAD-US 19 45885799 45885799 single base substitution G A intron_variant STAD-US 19 45885799 45885799 single base substitution G A missense_variant R18W 52C>T STAD-US 19 45885799 45885799 single base substitution G A missense_variant R812W 2434C>T STAD-US 19 45885875 45885875 single base substitution G A exon_variant STAD-US 19 45885875 45885875 single base substitution G A intron_variant STAD-US 19 45885875 45885875 single base substitution G A synonymous_variant T786T 2358C>T STAD-US 19 45885875 45885875 single base substitution G A upstream_gene_variant STAD-US 19 45885943 45885943 single base substitution A G exon_variant STAD-US 19 45885943 45885943 single base substitution A G intron_variant STAD-US 19 45885943 45885943 single base substitution A G missense_variant Y764H 2290T>C STAD-US 19 45885943 45885943 single base substitution A G upstream_gene_variant STAD-US 19 45888866 45888866 single base substitution G A exon_variant STAD-US 19 45888866 45888866 single base substitution G A synonymous_variant C3C 9C>T STAD-US 19 45888866 45888866 single base substitution G A synonymous_variant C734C 2202C>T STAD-US 19 45888866 45888866 single base substitution G A upstream_gene_variant STAD-US 19 45889359 45889361 deletion of <=200bp AGG - disruptive_inframe_deletion LL631L STAD-US 19 45889359 45889361 deletion of <=200bp AGG - exon_variant STAD-US 19 45889359 45889361 deletion of <=200bp AGG - upstream_gene_variant STAD-US 19 45895174 45895174 single base substitution C T downstream_gene_variant STAD-US 19 45895174 45895174 single base substitution C T exon_variant STAD-US 19 45895174 45895174 single base substitution C T synonymous_variant P593P 1779G>A STAD-US 19 45895249 45895249 single base substitution G T downstream_gene_variant STAD-US 19 45895249 45895249 single base substitution G T exon_variant STAD-US 19 45895249 45895249 single base substitution G T synonymous_variant P568P 1704C>A STAD-US 19 45895270 45895270 deletion of <=200bp C - downstream_gene_variant STAD-US 19 45895270 45895270 deletion of <=200bp C - exon_variant STAD-US 19 45895270 45895270 deletion of <=200bp C - frameshift_variant G561 STAD-US 19 45898859 45898859 deletion of <=200bp G - downstream_gene_variant STAD-US 19 45898859 45898859 deletion of <=200bp G - exon_variant STAD-US 19 45898859 45898859 deletion of <=200bp G - frameshift_variant L397 STAD-US 19 45898859 45898859 deletion of <=200bp G - upstream_gene_variant STAD-US 19 45899436 45899436 deletion of <=200bp C - downstream_gene_variant STAD-US 19 45899436 45899436 deletion of <=200bp C - exon_variant STAD-US 19 45899436 45899436 deletion of <=200bp C - frameshift_variant G298 STAD-US 19 45899436 45899436 deletion of <=200bp C - upstream_gene_variant STAD-US 19 45899679 45899679 single base substitution C T downstream_gene_variant STAD-US 19 45899679 45899679 single base substitution C T exon_variant STAD-US 19 45899679 45899679 single base substitution C T missense_variant R243H 728G>A STAD-US 19 45899679 45899679 single base substitution C T upstream_gene_variant STAD-US 19 45899878 45899878 single base substitution C T downstream_gene_variant STAD-US 19 45899878 45899878 single base substitution C T exon_variant STAD-US 19 45899878 45899878 single base substitution C T missense_variant A213T 637G>A STAD-US 19 45899878 45899878 single base substitution C T upstream_gene_variant STAD-US 19 45899882 45899882 single base substitution G A downstream_gene_variant STAD-US 19 45899882 45899882 single base substitution G A exon_variant STAD-US 19 45899882 45899882 single base substitution G A synonymous_variant Y211Y 633C>T STAD-US 19 45899882 45899882 single base substitution G A upstream_gene_variant STAD-US 19 45899977 45899977 single base substitution G A downstream_gene_variant STAD-US 19 45899977 45899977 single base substitution G A exon_variant STAD-US 19 45899977 45899977 single base substitution G A missense_variant R180C 538C>T STAD-US 19 45899977 45899977 single base substitution G A upstream_gene_variant STAD-US 19 45900173 45900173 deletion of <=200bp G - downstream_gene_variant STAD-US 19 45900173 45900173 deletion of <=200bp G - exon_variant STAD-US 19 45900173 45900173 deletion of <=200bp G - frameshift_variant P114 STAD-US 19 45900173 45900173 deletion of <=200bp G - upstream_gene_variant STAD-US 19 45900258 45900258 insertion of <=200bp - G downstream_gene_variant STAD-US 19 45900258 45900258 insertion of <=200bp - G exon_variant STAD-US 19 45900258 45900258 insertion of <=200bp - G frameshift_variant R86R? STAD-US 19 45900258 45900258 insertion of <=200bp - G upstream_gene_variant STAD-US 19 45901297 45901297 single base substitution G A exon_variant STAD-US 19 45901297 45901297 single base substitution G A missense_variant A55V 164C>T STAD-US 19 45901297 45901297 single base substitution G A upstream_gene_variant STAD-US 19 45901550 45901550 single base substitution C T exon_variant STAD-US 19 45901550 45901550 single base substitution C T synonymous_variant A9A 27G>A STAD-US 19 45911523 45911523 single base substitution G A upstream_gene_variant STAD-US 19 45911617 45911617 single base substitution C T upstream_gene_variant STAD-US 19 45911723 45911723 deletion of <=200bp C - upstream_gene_variant STAD-US 19 45911872 45911872 deletion of <=200bp A - upstream_gene_variant STAD-US 19 45912137 45912137 single base substitution G T upstream_gene_variant STAD-US 19 45912587 45912587 single base substitution G T upstream_gene_variant STAD-US 19 45912637 45912637 single base substitution C T upstream_gene_variant THCA-US 19 45889407 45889407 single base substitution G A exon_variant THCA-US 19 45889407 45889407 single base substitution G A missense_variant S616F 1847C>T THCA-US 19 45889407 45889407 single base substitution G A upstream_gene_variant THCA-US 19 45901354 45901354 single base substitution G A exon_variant THCA-US 19 45901354 45901354 single base substitution G A missense_variant A36V 107C>T THCA-US 19 45901354 45901354 single base substitution G A upstream_gene_variant THCA-US 19 45901546 45901546 single base substitution C T exon_variant THCA-US 19 45901546 45901546 single base substitution C T missense_variant D11N 31G>A UCEC-US 19 45883481 45883481 single base substitution G A downstream_gene_variant UCEC-US 19 45883481 45883481 single base substitution G A exon_variant UCEC-US 19 45883481 45883481 single base substitution G A intron_variant UCEC-US 19 45883481 45883481 single base substitution G A missense_variant P21S 61C>T UCEC-US 19 45883481 45883481 single base substitution G A synonymous_variant F818F 2454C>T UCEC-US 19 45888875 45888875 single base substitution G A 5_prime_UTR_variant UCEC-US 19 45888875 45888875 single base substitution G A exon_variant UCEC-US 19 45888875 45888875 single base substitution G A synonymous_variant F731F 2193C>T UCEC-US 19 45888875 45888875 single base substitution G A upstream_gene_variant UCEC-US 19 45888880 45888880 single base substitution C T exon_variant UCEC-US 19 45888880 45888880 single base substitution C T missense_variant A730T 2188G>A UCEC-US 19 45888880 45888880 single base substitution C T upstream_gene_variant UCEC-US 19 45889095 45889095 single base substitution C T exon_variant UCEC-US 19 45889095 45889095 single base substitution C T missense_variant D690N 2068G>A UCEC-US 19 45889095 45889095 single base substitution C T upstream_gene_variant UCEC-US 19 45889209 45889209 single base substitution C T exon_variant UCEC-US 19 45889209 45889209 single base substitution C T missense_variant D652N 1954G>A UCEC-US 19 45889209 45889209 single base substitution C T upstream_gene_variant UCEC-US 19 45895165 45895165 single base substitution G T downstream_gene_variant UCEC-US 19 45895165 45895165 single base substitution G T exon_variant UCEC-US 19 45895165 45895165 single base substitution G T missense_variant S596R 1788C>A UCEC-US 19 45895307 45895307 single base substitution C T downstream_gene_variant UCEC-US 19 45895307 45895307 single base substitution C T exon_variant UCEC-US 19 45895307 45895307 single base substitution C T missense_variant R549H 1646G>A UCEC-US 19 45895347 45895347 single base substitution G A downstream_gene_variant UCEC-US 19 45895347 45895347 single base substitution G A exon_variant UCEC-US 19 45895347 45895347 single base substitution G A missense_variant P536S 1606C>T UCEC-US 19 45899489 45899489 single base substitution C T downstream_gene_variant UCEC-US 19 45899489 45899489 single base substitution C T exon_variant UCEC-US 19 45899489 45899489 single base substitution C T synonymous_variant S280S 840G>A UCEC-US 19 45899489 45899489 single base substitution C T upstream_gene_variant UCEC-US 19 45900241 45900241 single base substitution C A downstream_gene_variant UCEC-US 19 45900241 45900241 single base substitution C A exon_variant UCEC-US 19 45900241 45900241 single base substitution C A missense_variant G92C 274G>T UCEC-US 19 45900241 45900241 single base substitution C A upstream_gene_variant UCEC-US 19 45900258 45900258 single base substitution C T downstream_gene_variant UCEC-US 19 45900258 45900258 single base substitution C T exon_variant UCEC-US 19 45900258 45900258 single base substitution C T missense_variant R86Q 257G>A UCEC-US 19 45900258 45900258 single base substitution C T upstream_gene_variant UCEC-US 19 45912182 45912182 single base substitution A G upstream_gene_variant UCEC-US 19 45912321 45912321 single base substitution G A upstream_gene_variant UCEC-US 19 45912678 45912678 single base substitution G A upstream_gene_variant UCEC-US 19 45912718 45912718 single base substitution C T upstream_gene_variant UCEC-US 19 45912975 45912975 single base substitution C T upstream_gene_variant

Mutation - COSMIC Sample Name Mutation ID Mutation CDS Mutation AA Mutation Description Mutation Genome Position Mutation Strand PR-2915 COSM246750 c.889G>T p.G297W Substitution - Missense 19:45396182-45396182 - BD124T COSM5493957 c.1734G>A p.G578G Substitution - coding silent 19:45391961-45391961 - sysucc-783T COSM5484313 c.9C>T p.S3S Substitution - coding silent 19:45398310-45398310 - TCGA-BR-8059-01 COSM4079346 c.2434C>T p.R812W Substitution - Missense 19:45382541-45382541 - SC_9099 COSM5559627 c.1408C>T p.L470L Substitution - coding silent 19:45392287-45392287 - TCGA-HU-A4G9-01 COSM1239911 c.1779G>A p.P593P Substitution - coding silent 19:45391916-45391916 - TCGA-BR-8487-01 COSM4079347 c.2290T>C p.Y764H Substitution - Missense 19:45382685-45382685 - SM-4AX86 COSM4412509 c.2339G>A p.R780H Substitution - Missense 19:45382636-45382636 - ACINAR03 COSM1734778 c.1683delG p.P562fs*75 Deletion - Frameshift 19:45392012-45392012 - TCGA-A5-A0R8-01 COSM998189 c.1788C>A p.S596R Substitution - Missense 19:45391907-45391907 - RK031_C01 COSM1630984 c.1749C>T p.A583A Substitution - coding silent 19:45391946-45391946 - 2492703 COSM5600266 c.1364A>C p.K455T Substitution - Missense 19:45392331-45392331 - T3152 COSM4079346 c.2434C>T p.R812W Substitution - Missense 19:45382541-45382541 - TCGA-04-1356-01 COSM118301 c.177G>T p.P59P Substitution - coding silent 19:45398026-45398026 - 12-P412 COSM4581215 c.163G>A p.A55T Substitution - Missense 19:45398040-45398040 - TCGA-EE-A2M5-06 COSM3535909 c.191C>T p.P64L Substitution - Missense 19:45398012-45398012 - TCGA-AA-3492-01 COSM1394599 c.2099C>T p.A700V Substitution - Missense 19:45385711-45385711 - SNU-C2B COSM4651374 c.930G>A p.P310P Substitution - coding silent 19:45395860-45395860 - ICC009T COSM5823543 c.430C>A p.R144S Substitution - Missense 19:45396827-45396827 - TCGA-DA-A1HY-06 COSM3535906 c.1468C>T p.P490S Substitution - Missense 19:45392227-45392227 - CRC-31T COSM5457839 c.319C>T p.H107Y Substitution - Missense 19:45396938-45396938 - sysucc-1370T COSM5471053 c.1094C>T p.P365L Substitution - Missense 19:45395696-45395696 - 2521259 COSM5891107 c.2449-5C>T p.? Unknown 19:45380233-45380233 - sysucc-1925T COSM5450877 c.654C>T p.F218F Substitution - coding silent 19:45396603-45396603 - T2944 COSM4717063 c.433G>A p.A145T Substitution - Missense 19:45396824-45396824 - TCGA-EL-A3T7-01 COSM3371369 c.107C>T p.A36V Substitution - Missense 19:45398096-45398096 - ESO-732 COSM1262847 c.773C>T p.A258V Substitution - Missense 19:45396376-45396376 - C086 COSM5537492 c.1793C>T p.P598L Substitution - Missense 19:45391902-45391902 - TCGA-DK-A3IS-01 COSM1304774 c.667C>T p.L223L Substitution - coding silent 19:45396590-45396590 - CSCC-35-T COSM4465125 c.1369C>T p.P457S Substitution - Missense 19:45392326-45392326 - CHC1191T COSM4799745 c.2054A>G p.N685S Substitution - Missense 19:45385851-45385851 - TCGA-EE-A180-06 COSM3535902 c.2418G>A p.Q806Q Substitution - coding silent 19:45382557-45382557 - CHC1545T COSM4787582 c.778G>A p.E260K Substitution - Missense 19:45396371-45396371 - TCGA-B5-A11E-01 COSM998184 c.2454C>T p.F818F Substitution - coding silent 19:45380223-45380223 - C99 COSM4620384 c.2245G>A p.A749T Substitution - Missense 19:45385565-45385565 - CRC-03T COSM4079348 c.2202C>T p.C734C Substitution - coding silent 19:45385608-45385608 - T3225 COSM4717058 c.2374G>A p.G792R Substitution - Missense 19:45382601-45382601 - TCGA-B7-5816-01 COSM4079355 c.27G>A p.A9A Substitution - coding silent 19:45398292-45398292 - TCGA-D1-A16R-01 COSM998192 c.1391C>T p.P464L Substitution - Missense 19:45392304-45392304 - LUAD-B02594 COSM336568 c.1A>G p.M1V Substitution - Missense 19:45398318-45398318 - P151 COSM1737410 c.1658G>A p.R553H Substitution - Missense 19:45392037-45392037 - HCT116 COSM4632220 c.964C>A p.R322R Substitution - coding silent 19:45395826-45395826 - TCGA-22-4599-01 COSM712344 c.863G>A p.W288* Substitution - Nonsense 19:45396208-45396208 - TCGA-60-2722-01 COSM712342 c.731G>A p.R244Q Substitution - Missense 19:45396418-45396418 - TCGA-BR-8487-01 COSM4079352 c.633C>T p.Y211Y Substitution - coding silent 19:45396624-45396624 - ESO-859 COSM1239911 c.1779G>A p.P593P Substitution - coding silent 19:45391916-45391916 - BCM723T COSM4717062 c.620delC p.P207fs*17 Deletion - Frameshift 19:45396637-45396637 - TCGA-EE-A29B-06 COSM3535905 c.1657C>T p.R553C Substitution - Missense 19:45392038-45392038 - TCGA-HT-8564-01 COSM3971089 c.2406G>A p.A802A Substitution - coding silent 19:45382569-45382569 - 477 COSM4438744 c.2134C>T p.L712L Substitution - coding silent 19:45385676-45385676 - 1604875 COSM141571 c.2440T>C p.Y814H Substitution - Missense 19:45382535-45382535 - TCGA-13-2071-01 COSM1325193 c.766G>T p.D256Y Substitution - Missense 19:45396383-45396383 - I2L-P19Tb-Tumor-Organoid COSM5365180 c.2168C>T p.T723M Substitution - Missense 19:45385642-45385642 - TCGA-J9-A52C-01 COSM998185 c.2193C>T p.F731F Substitution - coding silent 19:45385617-45385617 - KPOPBR-27-T COSM5966096 c.2313C>T p.A771A Substitution - coding silent 19:45382662-45382662 - TCGA-D1-A16X-01 COSM998188 c.1954G>A p.D652N Substitution - Missense 19:45385951-45385951 - T3724 COSM4717062 c.620delC p.P207fs*17 Deletion - Frameshift 19:45396637-45396637 - CSCC-29-T COSM4530099 c.1667G>A p.G556E Substitution - Missense 19:45392028-45392028 - BD57T COSM5511091 c.432C>T p.R144R Substitution - coding silent 19:45396825-45396825 - LUAD-RT-S01813 COSM118301 c.177G>T p.P59P Substitution - coding silent 19:45398026-45398026 - 587336 COSM1221735 c.431G>A p.R144H Substitution - Missense 19:45396826-45396826 - TCGA-AO-A128-01 COSM3823415 c.2044G>A p.A682T Substitution - Missense 19:45385861-45385861 - SN12C COSM1681131 c.2435G>T p.R812L Substitution - Missense 19:45382540-45382540 - CSCC-55-T COSM4510600 c.842C>T p.P281L Substitution - Missense 19:45396229-45396229 - CSCC-11-T COSM4479539 c.2334C>T p.S778S Substitution - coding silent 19:45382641-45382641 - CHC892T COSM4959032 c.1683G>A p.G561G Substitution - coding silent 19:45392012-45392012 - PTC-10C COSM4132127 c.1529T>G p.V510G Substitution - Missense 19:45392166-45392166 - TCGA-G4-6586-01 COSM1394601 c.1318delC p.Q440fs*10 Deletion - Frameshift 19:45395472-45395472 - TCGA-CG-4465-01 COSM3104101 c.2358C>T p.T786T Substitution - coding silent 19:45382617-45382617 - YUBER COSM1712503 c.52C>T p.Q18* Substitution - Nonsense 19:45398267-45398267 - 587350 COSM1221736 c.358T>C p.S120P Substitution - Missense 19:45396899-45396899 - WSU-HN6 COSM4602503 c.823T>G p.F275V Substitution - Missense 19:45396248-45396248 - H1672 COSM314382 c.1491G>C p.L497L Substitution - coding silent 19:45392204-45392204 - LUAD-S01381 COSM398506 c.819C>T p.D273D Substitution - coding silent 19:45396252-45396252 - T3021 COSM4717062 c.620delC p.P207fs*17 Deletion - Frameshift 19:45396637-45396637 - 2492702 COSM5600266 c.1364A>C p.K455T Substitution - Missense 19:45392331-45392331 - TCGA-F1-6874-01 COSM4079353 c.538C>T p.R180C Substitution - Missense 19:45396719-45396719 - ESO-0292 COSM163681 c.2043C>T p.T681T Substitution - coding silent 19:45385862-45385862 - ESO-187 COSM1262846 c.2388C>T p.T796T Substitution - coding silent 19:45382587-45382587 - TCGA-FW-A3R5-06 COSM3535903 c.1765C>T p.P589S Substitution - Missense 19:45391930-45391930 - TCGA-46-6026-01 COSM712350 c.2445C>T p.F815F Substitution - coding silent 19:45382530-45382530 - BD124T COSM5493958 c.580delC p.Q194fs*30 Deletion - Frameshift 19:45396677-45396677 - TCGA-CD-A4MI-01 COSM4079350 c.728G>A p.R243H Substitution - Missense 19:45396421-45396421 - TCGA-QH-A65Z-01 COSM3971090 c.1589C>T p.A530V Substitution - Missense 19:45392106-45392106 - SC_9008 COSM5547495 c.950_952delCTC p.P317delP Deletion - In frame 19:45395838-45395840 - T2197 COSM4717057 c.2397G>T p.W799C Substitution - Missense 19:45382578-45382578 - TCGA-CC-A5UE-01 COSM4933976 c.1208C>G p.P403R Substitution - Missense 19:45395582-45395582 - Au1 COSM5597423 c.1176C>T p.L392L Substitution - coding silent 19:45395614-45395614 - Au2 COSM5600266 c.1364A>C p.K455T Substitution - Missense 19:45392331-45392331 - CSCC-56-T COSM4488891 c.339C>T p.S113S Substitution - coding silent 19:45396918-45396918 - sysucc-863T COSM5765103 c.270C>T p.T90T Substitution - coding silent 19:45396987-45396987 - 53M COSM5595161 c.579C>T p.P193P Substitution - coding silent 19:45396678-45396678 - TCGA-BS-A0TJ-01 COSM998194 c.274G>T p.G92C Substitution - Missense 19:45396983-45396983 - 2492701 COSM5600266 c.1364A>C p.K455T Substitution - Missense 19:45392331-45392331 - 61 COSM5741639 c.365G>A p.R122H Substitution - Missense 19:45396892-45396892 - TCGA-D9-A6EC-06 COSM4400892 c.1112C>T p.P371L Substitution - Missense 19:45395678-45395678 - TCGA-66-2789-01 COSM712348 c.2166C>T p.T722T Substitution - coding silent 19:45385644-45385644 - HCC107 COSM1612414 c.660C>T p.S220S Substitution - coding silent 19:45396597-45396597 - 2521244 COSM5887505 c.169C>T p.P57S Substitution - Missense 19:45398034-45398034 - TCGA-BR-7723-01 COSM4079351 c.637G>A p.A213T Substitution - Missense 19:45396620-45396620 - TCGA-43-6143-01 COSM712341 c.655G>T p.G219W Substitution - Missense 19:45396602-45396602 - TCGA-AC-A23H-01 COSM3823414 c.2337C>G p.F779L Substitution - Missense 19:45382638-45382638 - VACO10 COSM4656903 c.1491G>A p.L497L Substitution - coding silent 19:45392204-45392204 - SW48 COSM4615958 c.893delG p.G298fs*77 Deletion - Frameshift 19:45396178-45396178 - 587284 COSM1221737 c.706G>A p.A236T Substitution - Missense 19:45396551-45396551 - TCGA-EE-A3AE-06 COSM3535903 c.1765C>T p.P589S Substitution - Missense 19:45391930-45391930 - 587278 COSM1221734 c.445G>A p.A149T Substitution - Missense 19:45396812-45396812 - Pat_45_B COSM5856157 c.106G>A p.A36T Substitution - Missense 19:45398097-45398097 - PT34 COSM5911043 c.758C>T p.S253F Substitution - Missense 19:45396391-45396391 - CHC892T COSM4959484 c.575G>A p.G192E Substitution - Missense 19:45396682-45396682 - CHC892T COSM4796940 c.571G>A p.E191K Substitution - Missense 19:45396686-45396686 - CHC1191T COSM4799745 c.2054A>G p.N685S Substitution - Missense 19:45385851-45385851 - C0029T COSM3797257 c.1464C>T p.L488L Substitution - coding silent 19:45392231-45392231 - YULAPE COSM1712501 c.2383G>A p.E795K Substitution - Missense 19:45382592-45382592 - TCGA-GF-A3OT-06 COSM3535907 c.1342C>T p.P448S Substitution - Missense 19:45395448-45395448 - CSCC-31-T COSM4448959 c.1515delC p.E506fs*131 Deletion - Frameshift 19:45392180-45392180 - TCGA-FD-A3SR-01 COSM3797258 c.1392G>A p.P464P Substitution - coding silent 19:45392303-45392303 - ZZUFHECRKL-G038T COSM5442479 c.2010C>T p.G670G Substitution - coding silent 19:45385895-45385895 - CSCC-27-T COSM4490773 c.368C>T p.T123I Substitution - Missense 19:45396889-45396889 - TCGA-D9-A6E9-06 COSM4399672 c.2250C>T p.D750D Substitution - coding silent 19:45382725-45382725 - CHC892T COSM4796940 c.571G>A p.E191K Substitution - Missense 19:45396686-45396686 - 40M COSM5586298 c.1720G>A p.E574K Substitution - Missense 19:45391975-45391975 - S02209 COSM5675241 c.165G>T p.A55A Substitution - coding silent 19:45398038-45398038 - sysucc-1370T COSM190878 c.727C>T p.R243C Substitution - Missense 19:45396422-45396422 - TCGA-FD-A3SL-01 COSM3797257 c.1464C>T p.L488L Substitution - coding silent 19:45392231-45392231 - 386 COSM190878 c.727C>T p.R243C Substitution - Missense 19:45396422-45396422 - TCGA-A7-A0DA-01 COSM439785 c.329G>A p.S110N Substitution - Missense 19:45396928-45396928 - Pat_41_B COSM5856156 c.1849C>T p.P617S Substitution - Missense 19:45386147-45386147 - C0074T COSM4154254 c.1414C>A p.P472T Substitution - Missense 19:45392281-45392281 - CSCC-54-T COSM4472280 c.1772C>T p.P591L Substitution - Missense 19:45391923-45391923 - TCGA-DK-A1A3-01 COSM418168 c.811C>T p.R271C Substitution - Missense 19:45396338-45396338 - T2197 COSM4717064 c.397G>A p.G133S Substitution - Missense 19:45396860-45396860 - BD53T COSM998192 c.1391C>T p.P464L Substitution - Missense 19:45392304-45392304 - 61 COSM5741638 c.1038G>A p.W346* Substitution - Nonsense 19:45395752-45395752 - CHC1545T COSM4787582 c.778G>A p.E260K Substitution - Missense 19:45396371-45396371 - CSCC-4-T COSM4532215 c.1865G>A p.R622H Substitution - Missense 19:45386131-45386131 - pfg057T COSM4754238 c.1868C>T p.A623V Substitution - Missense 19:45386128-45386128 - TCGA-FS-A1ZQ-06 COSM3535904 c.1707C>T p.I569I Substitution - coding silent 19:45391988-45391988 - TCGA-DO-A2HM-01 COSM3371368 c.1847C>T p.S616F Substitution - Missense 19:45386149-45386149 - PD9582a COSM5793257 c.363G>C p.P121P Substitution - coding silent 19:45396894-45396894 - TCGA-66-2793-01 COSM712343 c.760G>A p.D254N Substitution - Missense 19:45396389-45396389 - TCGA-B5-A0K9-01 COSM998190 c.1646G>A p.R549H Substitution - Missense 19:45392049-45392049 - 8053200 COSM3389136 c.1163G>T p.S388I Substitution - Missense 19:45395627-45395627 - I2L-P19Tb-Tumor-Biopsy COSM5365180 c.2168C>T p.T723M Substitution - Missense 19:45385642-45385642 - TCGA-DJ-A4UT-01 COSM3371370 c.31G>A p.D11N Substitution - Missense 19:45398288-45398288 - CHC892T COSM4959484 c.575G>A p.G192E Substitution - Missense 19:45396682-45396682 - TCGA-D5-6928-01 COSM1394600 c.1771C>T p.P591S Substitution - Missense 19:45391924-45391924 - LUAD-S01478 COSM399807 c.1914G>C p.G638G Substitution - coding silent 19:45386082-45386082 - TCGA-AP-A059-01 COSM998191 c.1606C>T p.P536S Substitution - Missense 19:45392089-45392089 - TCGA-39-5027-01 COSM712347 c.2018A>T p.Y673F Substitution - Missense 19:45385887-45385887 - TCGA-EX-A69M-01 COSM1239911 c.1779G>A p.P593P Substitution - coding silent 19:45391916-45391916 - CRC-11T COSM5460542 c.2105C>T p.S702L Substitution - Missense 19:45385705-45385705 - S02342 COSM5692669 c.1069T>C p.S357P Substitution - Missense 19:45395721-45395721 - C135 COSM4617942 c.2232C>T p.C744C Substitution - coding silent 19:45385578-45385578 - LUAD-S01467 COSM399375 c.1851G>T p.P617P Substitution - coding silent 19:45386145-45386145 - PD9582a COSM5769743 c.364C>T p.R122C Substitution - Missense 19:45396893-45396893 - TCGA-AZ-6598-01 COSM3692876 c.1904C>T p.A635V Substitution - Missense 19:45386092-45386092 - 587224 COSM1221733 c.1472C>T p.T491M Substitution - Missense 19:45392223-45392223 - TCGA-EE-A3J5-06 COSM3535906 c.1468C>T p.P490S Substitution - Missense 19:45392227-45392227 - CHC892T COSM4959032 c.1683G>A p.G561G Substitution - coding silent 19:45392012-45392012 - TCGA-D1-A17D-01 COSM998187 c.2068G>A p.D690N Substitution - Missense 19:45385837-45385837 - BD236T COSM4615958 c.893delG p.G298fs*77 Deletion - Frameshift 19:45396178-45396178 - T3603 COSM4717061 c.820G>A p.V274I Substitution - Missense 19:45396251-45396251 - sysucc-880T COSM5462868 c.483C>T p.P161P Substitution - coding silent 19:45396774-45396774 - 60T COSM107668 c.111C>T p.A37A Substitution - coding silent 19:45398092-45398092 - TCGA-BR-8370-01 COSM4079348 c.2202C>T p.C734C Substitution - coding silent 19:45385608-45385608 - 61 COSM5741640 c.28C>T p.R10W Substitution - Missense 19:45398291-45398291 - TCGA-B5-A0JY-01 COSM998186 c.2188G>A p.A730T Substitution - Missense 19:45385622-45385622 - TCGA-BG-A0VZ-01 COSM998195 c.257G>A p.R86Q Substitution - Missense 19:45397000-45397000 - NYU517 COSM4771066 c.806A>G p.Y269C Substitution - Missense 19:45396343-45396343 - TCGA-CJ-4916-01 COSM474918 c.43A>G p.M15V Substitution - Missense 19:45398276-45398276 - TCGA-CG-4442-01 COSM4079354 c.164C>T p.A55V Substitution - Missense 19:45398039-45398039 - C135 COSM4611043 c.1362_1363insC p.K455fs*9 Insertion - Frameshift 19:45392332-45392333 - TCGA-22-5478-01 COSM712345 c.1693G>C p.E565Q Substitution - Missense 19:45392002-45392002 - YUPAT COSM1712502 c.322C>T p.P108S Substitution - Missense 19:45396935-45396935 - PT37 COSM5921567 c.1577C>T p.S526F Substitution - Missense 19:45392118-45392118 - CRC-33T COSM5479546 c.242G>T p.S81I Substitution - Missense 19:45397015-45397015 - T3090 COSM4717065 c.332C>T p.P111L Substitution - Missense 19:45396925-45396925 - pfg016T COSM1641192 c.263C>T p.A88V Substitution - Missense 19:45396994-45396994 - TCGA-J9-A52C-01 COSM4877219 c.1713G>T p.E571D Substitution - Missense 19:45391982-45391982 - CHC1568T COSM4800224 c.2311G>T p.A771S Substitution - Missense 19:45382664-45382664 - 477 COSM4438745 c.2133G>T p.A711A Substitution - coding silent 19:45385677-45385677 - CHC1568T COSM4800224 c.2311G>T p.A771S Substitution - Missense 19:45382664-45382664 - BICR_22 COSM3104122 c.847C>G p.L283V Substitution - Missense 19:45396224-45396224 - TCGA-66-2778-01 COSM712346 c.1804C>G p.P602A Substitution - Missense 19:45391891-45391891 - MO_1179 COSM1394599 c.2099C>T p.A700V Substitution - Missense 19:45385711-45385711 - CSCC-52-T COSM4449152 c.173delG p.G58fs*166 Deletion - Frameshift 19:45398030-45398030 - TCGA-37-3789-01 COSM712349 c.2406G>T p.A802A Substitution - coding silent 19:45382569-45382569 - HCC058T COSM5804035 c.1400A>T p.E467V Substitution - Missense 19:45392295-45392295 - sysucc-1370T COSM5471054 c.696G>A p.P232P Substitution - coding silent 19:45396561-45396561 - HCC057T COSM3797258 c.1392G>A p.P464P Substitution - coding silent 19:45392303-45392303 - TCGA-CD-A4MJ-01 COSM4079349 c.1704C>A p.P568P Substitution - coding silent 19:45391991-45391991 - T263 COSM4717059 c.1968C>T p.P656P Substitution - coding silent 19:45385937-45385937 - T3658 COSM4717060 c.965G>A p.R322Q Substitution - Missense 19:45395825-45395825 - TCGA-EE-A2MR-06 COSM3535908 c.737C>T p.P246L Substitution - Missense 19:45396412-45396412 - TCGA-EE-A3AC-06 COSM3104106 c.2281G>A p.G761R Substitution - Missense 19:45382694-45382694 - 2492700 COSM5600266 c.1364A>C p.K455T Substitution - Missense 19:45392331-45392331 - HCC107T COSM1612414 c.660C>T p.S220S Substitution - coding silent 19:45396597-45396597 - PD4084a COSM163681 c.2043C>T p.T681T Substitution - coding silent 19:45385862-45385862 - TCGA-D1-A103-01 COSM998193 c.840G>A p.S280S Substitution - coding silent 19:45396231-45396231 - TCGA-D1-A16X-01 COSM998185 c.2193C>T p.F731F Substitution - coding silent 19:45385617-45385617 - CSCC-32-T COSM4465189 c.1370C>T p.P457L Substitution - Missense 19:45392325-45392325 -

Mutation - CGAP UNIGENE CYTOBAND OMIM SNP Hs.466937 19q13.32 607463 2409818|CGAP|BC032298|A/T|non-coding||3038|Validated; 2409818|CGAP|BC064913|A/T|non-coding||3014|Validated

Mutation - IntOGen Mutated from(ref) Mutated to(alt) Consequence Type AA Mutation CDS Mutation Chr Pos Cancer C A 3-UTRSNV . c.2484+163G>T 19 45883288 CM C A Missense p.G219W c.655G>T 19 45899860 LUSC C A Missense p.G62V c.185G>T 19 45901276 LUAD C A Missense p.G92C c.274G>T 19 45900241 CM C A Missense p.G92C c.274G>T 19 45900241 UCEC C A Synonymous p.A802A c.2406G>T 19 45885827 LUSC C A Synonymous p.P59P c.177G>T 19 45901284 OV C G Missense p.E463Q c.1387G>C 19 45895566 HNSC C G Missense p.E565Q c.1693G>C 19 45895260 LUSC C T Missense p.D254N c.760G>A 19 45899647 LUSC C T Missense p.D690N c.2068G>A 19 45889095 UCEC C T Missense p.E794K c.2380G>A 19 45885853 CM C T Missense p.G761R c.2281G>A 19 45885952 CM C T Missense p.R244Q c.731G>A 19 45899676 LUSC C T Missense p.R549H c.1646G>A 19 45895307 UCEC C T Missense p.R86Q c.257G>A 19 45900258 UCEC C T Missense p.S110N c.329G>A 19 45900186 BRCA C T Nonsense p.W288* c.863G>A 19 45899466 LUSC C T Nonsense p.W799* c.2396G>A 19 45885837 LUAD C T Synonymous p.A9A c.27G>A 19 45901550 STAD C T Synonymous p.G297G c.891G>A 19 45899438 LUAD C T Synonymous p.Q806Q c.2418G>A 19 45885815 CM G A IntronicSNV . c.1355-16C>T 19 45895614 CM G A Missense p.A258V c.773C>T 19 45899634 ESCA G A Missense p.A36V c.107C>T 19 45901354 THCA G A Missense p.A88V c.263C>T 19 45900252 STAD G A Missense p.P490S c.1468C>T 19 45895485 CM G A Missense p.P518S c.1552C>T 19 45895401 CM G A Missense p.P589S c.1765C>T 19 45895188 CM G A Missense p.P64L c.191C>T 19 45901270 CM G A Missense p.R180C c.538C>T 19 45899977 STAD G A Missense p.R271C c.811C>T 19 45899596 BLCA G A Missense p.R553C c.1657C>T 19 45895296 CM G A Missense p.S616F c.1847C>T 19 45889407 THCA G A Synonymous p.A583A c.1749C>T 19 45895204 HC G A Synonymous p.F815F c.2445C>T 19 45885788 LUSC G A Synonymous p.I569I c.1707C>T 19 45895246 CM G A Synonymous p.L223L c.667C>T 19 45899848 BLCA G A Synonymous p.S778S c.2334C>T 19 45885899 CM G A Synonymous p.T681T c.2043C>T 19 45889120 BRCA G A Synonymous p.T722T c.2166C>T 19 45888902 LUSC G A Synonymous p.T786T c.2358C>T 19 45885875 STAD G A Synonymous p.T796T c.2388C>T 19 45885845 ESCA G C Missense p.P602A c.1804C>G 19 45895149 LUSC GG AA Missense p.P188L c.563_564delinsTT 19 45899951 CM GG AA Missense p.P537S c.1608_1609delinsTT 19 45895344 CM G T Missense p.P207T c.619C>A 19 45899896 STAD G T Missense p.S596R c.1788C>A 19 45895165 UCEC G T Synonymous p.P54P c.162C>A 19 45901299 LUAD T A Missense p.Y673F c.2018A>T 19 45889145 LUSC T C Missense p.M15V c.43A>G 19 45901534 RCCC