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 2 228770995 228770995 + Missense_Mutation SNP G G A TCGA-OR-A5JA-01A-11D-A29I-10 TCGA-OR-A5JA-10A-01D-A29L-10 g.chr2:228770995G>A c.799G>A c.(799-801)Gcc>Acc p.A267T BLCA 2 228754637 228754637 + Missense_Mutation SNP C C T TCGA-CF-A1HS-01A-11D-A13W-08 TCGA-CF-A1HS-10A-01D-A13W-08 g.chr2:228754637C>T c.179C>T c.(178-180)aCa>aTa p.T60I BLCA 2 228758558 228758558 + Missense_Mutation SNP C C T TCGA-GV-A3QI-01A-11D-A21Z-08 TCGA-GV-A3QI-10A-01D-A21Z-08 g.chr2:228758558C>T c.365C>T c.(364-366)gCg>gTg p.A122V BLCA 2 228771019 228771019 + Missense_Mutation SNP C C G TCGA-ZF-A9R7-01A-11D-A38G-08 TCGA-ZF-A9R7-10A-01D-A38J-08 g.chr2:228771019C>G c.823C>G c.(823-825)Cta>Gta p.L275V BLCA 2 228771965 228771965 + Missense_Mutation SNP G G C TCGA-BT-A20R-01A-12D-A16O-08 TCGA-BT-A20R-11A-11D-A16O-08 g.chr2:228771965G>C c.970G>C c.(970-972)Gat>Cat p.D324H BLCA 2 228786249 228786249 + Missense_Mutation SNP C C A TCGA-MV-A51V-01A-11D-A26M-08 TCGA-MV-A51V-10A-01D-A26K-08 g.chr2:228786249C>A c.1185C>A c.(1183-1185)ttC>ttA p.F395L BRCA 2 228767739 228767739 + Nonsense_Mutation SNP C C T TCGA-BH-A0B6-01A-11D-A19Y-09 TCGA-BH-A0B6-10A-01D-A19Y-09 g.chr2:228767739C>T c.562C>T c.(562-564)Caa>Taa p.Q188* BRCA 2 228769656 228769656 + Silent SNP C C T TCGA-AO-A0JM-01A-21W-A071-09 TCGA-AO-A0JM-10A-01W-A071-09 g.chr2:228769656C>T c.660C>T c.(658-660)gcC>gcT p.A220A BRCA 2 228769717 228769717 + Missense_Mutation SNP C C T TCGA-AO-A12E-01A-11D-A10M-09 TCGA-AO-A12E-10A-01D-A10M-09 g.chr2:228769717C>T c.721C>T c.(721-723)Cat>Tat p.H241Y BRCA 2 228786260 228786260 + Missense_Mutation SNP G G A TCGA-D8-A1JG-01B-11D-A13L-09 TCGA-D8-A1JG-10A-01D-A13O-09 g.chr2:228786260G>A c.1196G>A c.(1195-1197)gGc>gAc p.G399D CESC 2 228786123 228786123 + Silent SNP C C T TCGA-EK-A2RA-01A-11D-A18J-09 TCGA-EK-A2RA-10A-01D-A18J-09 g.chr2:228786123C>T c.1059C>T c.(1057-1059)ttC>ttT p.F353F CHOL 2 228771962 228771962 + Missense_Mutation SNP G G T TCGA-W5-AA2O-01A-11D-A417-09 TCGA-W5-AA2O-10A-01D-A41A-09 g.chr2:228771962G>T c.967G>T c.(967-969)Gct>Tct p.A323S COAD 2 228754586 228754586 + Missense_Mutation SNP C C T TCGA-CM-5864-01A-01D-1650-10 TCGA-CM-5864-10A-01D-1650-10 g.chr2:228754586C>T c.128C>T c.(127-129)gCg>gTg p.A43V COAD 2 228754656 228754656 + Missense_Mutation SNP G G T TCGA-AZ-4315-01A-01D-1408-10 TCGA-AZ-4315-10A-01D-1408-10 g.chr2:228754656G>T c.198G>T c.(196-198)ttG>ttT p.L66F COAD 2 228755988 228755988 + Silent SNP A A C TCGA-CA-6717-01A-11D-1835-10 TCGA-CA-6717-10A-01D-1835-10 g.chr2:228755988A>C c.276A>C c.(274-276)atA>atC p.I92I COAD 2 228758579 228758579 + Missense_Mutation SNP C C A TCGA-A6-5666-01A-01D-1650-10 TCGA-A6-5666-10A-01D-1650-10 g.chr2:228758579C>A c.386C>A c.(385-387)aCg>aAg p.T129K COAD 2 228758589 228758589 + Silent SNP C C T TCGA-AD-6895-01A-11D-1924-10 TCGA-AD-6895-10A-01D-1924-10 g.chr2:228758589C>T c.396C>T c.(394-396)ggC>ggT p.G132G COAD 2 228769719 228769719 + Silent SNP T T C TCGA-AA-3811-01A-01W-0995-10 TCGA-AA-3811-10A-01W-0995-10 g.chr2:228769719T>C c.723T>C c.(721-723)caT>caC p.H241H COAD 2 228770990 228770990 + Missense_Mutation SNP G G A TCGA-AA-3663-01A-01D-1719-10 TCGA-AA-3663-11A-01D-1719-10 g.chr2:228770990G>A c.794G>A c.(793-795)aGc>aAc p.S265N COAD 2 228783505 228783505 + Missense_Mutation SNP G G T TCGA-AA-A010-01A-01W-A00E-09 TCGA-AA-A010-10A-01W-A00E-09 g.chr2:228783505G>T c.983G>T c.(982-984)aGa>aTa p.R328I COAD 2 228786135 228786135 + Silent SNP G G A TCGA-AA-3555-01A-01W-0831-10 TCGA-AA-3555-10A-01W-0831-10 g.chr2:228786135G>A c.1071G>A c.(1069-1071)ggG>ggA p.G357G COADREAD 2 228750096 228750096 + Nonsense_Mutation SNP G G T TCGA-AG-A002-01A-01W-A00K-09 TCGA-AG-A002-10A-01W-A00K-09 g.chr2:228750096G>T c.70G>T c.(70-72)Gaa>Taa p.E24* COADREAD 2 228754586 228754586 + Missense_Mutation SNP C C T TCGA-CM-5864-01A-01D-1650-10 TCGA-CM-5864-10A-01D-1650-10 g.chr2:228754586C>T c.128C>T c.(127-129)gCg>gTg p.A43V COADREAD 2 228754634 228754634 + Missense_Mutation SNP G G A TCGA-AG-A002-01A-01W-A00K-09 TCGA-AG-A002-10A-01W-A00K-09 g.chr2:228754634G>A c.176G>A c.(175-177)cGa>cAa p.R59Q COADREAD 2 228754656 228754656 + Missense_Mutation SNP G G T TCGA-AZ-4315-01A-01D-1408-10 TCGA-AZ-4315-10A-01D-1408-10 g.chr2:228754656G>T c.198G>T c.(196-198)ttG>ttT p.L66F COADREAD 2 228755988 228755988 + Silent SNP A A C TCGA-CA-6717-01A-11D-1835-10 TCGA-CA-6717-10A-01D-1835-10 g.chr2:228755988A>C c.276A>C c.(274-276)atA>atC p.I92I COADREAD 2 228758522 228758522 + Missense_Mutation SNP G G T TCGA-AG-A002-01A-01W-A00K-09 TCGA-AG-A002-10A-01W-A00K-09 g.chr2:228758522G>T c.329G>T c.(328-330)gGa>gTa p.G110V COADREAD 2 228758579 228758579 + Missense_Mutation SNP C C A TCGA-A6-5666-01A-01D-1650-10 TCGA-A6-5666-10A-01D-1650-10 g.chr2:228758579C>A c.386C>A c.(385-387)aCg>aAg p.T129K COADREAD 2 228758589 228758589 + Silent SNP C C T TCGA-AD-6895-01A-11D-1924-10 TCGA-AD-6895-10A-01D-1924-10 g.chr2:228758589C>T c.396C>T c.(394-396)ggC>ggT p.G132G COADREAD 2 228758615 228758615 + Missense_Mutation SNP C C A TCGA-AG-3898-01A-01W-1073-09 TCGA-AG-3898-10A-01W-1073-09 g.chr2:228758615C>A c.422C>A c.(421-423)gCa>gAa p.A141E COADREAD 2 228769719 228769719 + Silent SNP T T C TCGA-AA-3811-01A-01W-0995-10 TCGA-AA-3811-10A-01W-0995-10 g.chr2:228769719T>C c.723T>C c.(721-723)caT>caC p.H241H COADREAD 2 228769723 228769723 + Missense_Mutation SNP G G A TCGA-AG-A02X-01A-01W-A00E-09 TCGA-AG-A02X-10A-01W-A00E-09 g.chr2:228769723G>A c.727G>A c.(727-729)Gtt>Att p.V243I COADREAD 2 228770990 228770990 + Missense_Mutation SNP G G A TCGA-AA-3663-01A-01D-1719-10 TCGA-AA-3663-11A-01D-1719-10 g.chr2:228770990G>A c.794G>A c.(793-795)aGc>aAc p.S265N COADREAD 2 228783505 228783505 + Missense_Mutation SNP G G T TCGA-AA-A010-01A-01W-A00E-09 TCGA-AA-A010-10A-01W-A00E-09 g.chr2:228783505G>T c.983G>T c.(982-984)aGa>aTa p.R328I COADREAD 2 228783526 228783526 + Missense_Mutation SNP G G T TCGA-AG-3892-01A-01W-1073-09 TCGA-AG-3892-10A-01W-1073-09 g.chr2:228783526G>T c.1004G>T c.(1003-1005)aGa>aTa p.R335I COADREAD 2 228786135 228786135 + Silent SNP G G A TCGA-AA-3555-01A-01W-0831-10 TCGA-AA-3555-10A-01W-0831-10 g.chr2:228786135G>A c.1071G>A c.(1069-1071)ggG>ggA p.G357G DLBC 2 228750106 228750106 + Missense_Mutation SNP C C T TCGA-G8-6324-01A-11D-2210-10 TCGA-G8-6324-10A-01D-2210-10 g.chr2:228750106C>T c.80C>T c.(79-81)aCt>aTt p.T27I ESCA 2 228750092 228750092 + Silent SNP T T C TCGA-2H-A9GH-01A-11D-A37C-09 TCGA-2H-A9GH-11A-11D-A37F-09 g.chr2:228750092T>C c.66T>C c.(64-66)caT>caC p.H22H GBMLGG 2 228750104 228750104 + Missense_Mutation SNP G G C TCGA-E1-5322-01A-01D-1468-08 TCGA-E1-5322-10A-01D-1468-08 g.chr2:228750104G>C c.78G>C c.(76-78)aaG>aaC p.K26N GBMLGG 2 228755970 228755970 + Splice_Site SNP G G T TCGA-DU-6392-01A-11D-1705-08 TCGA-DU-6392-10A-01D-1705-08 g.chr2:228755970G>T c.e4-1 GBMLGG 2 228770991 228770991 + Silent SNP C C T TCGA-HT-A5R7-01A-11D-A289-08 TCGA-HT-A5R7-10A-01D-A289-08 g.chr2:228770991C>T c.795C>T c.(793-795)agC>agT p.S265S HNSC 2 228755971 228755971 + Splice_Site SNP G G T TCGA-CV-A6JM-01A-11D-A31L-08 TCGA-CV-A6JM-10A-01D-A31J-08 g.chr2:228755971G>T c.259G>T c.(259-261)Gtt>Ttt p.V87F HNSC 2 228769656 228769656 + Silent SNP C C T TCGA-P3-A6T2-01A-11D-A34J-08 TCGA-P3-A6T2-10A-01D-A34M-08 g.chr2:228769656C>T c.660C>T c.(658-660)gcC>gcT p.A220A HNSC 2 228786234 228786234 + Silent SNP C C A TCGA-BB-7870-01A-11D-2229-08 TCGA-BB-7870-10A-01D-2229-08 g.chr2:228786234C>A c.1170C>A c.(1168-1170)atC>atA p.I390I KIPAN 2 228754578 228754578 + Missense_Mutation SNP T T A TCGA-CJ-5679-01A-11D-1534-10 TCGA-CJ-5679-11A-01D-1535-10 g.chr2:228754578T>A c.120T>A c.(118-120)gaT>gaA p.D40E KIPAN 2 228754594 228754594 + Nonsense_Mutation SNP G G T TCGA-DV-5574-01A-01D-1534-10 TCGA-DV-5574-10A-01D-1535-10 g.chr2:228754594G>T c.136G>T c.(136-138)Gaa>Taa p.E46* KIPAN 2 228758531 228758531 + Missense_Mutation SNP A A C TCGA-DV-5566-01A-01D-1534-10 TCGA-DV-5566-10A-01D-1535-10 g.chr2:228758531A>C c.338A>C c.(337-339)gAt>gCt p.D113A KIRC 2 228754578 228754578 + Missense_Mutation SNP T T A TCGA-CJ-5679-01A-11D-1534-10 TCGA-CJ-5679-11A-01D-1535-10 g.chr2:228754578T>A c.120T>A c.(118-120)gaT>gaA p.D40E KIRC 2 228754594 228754594 + Nonsense_Mutation SNP G G T TCGA-DV-5574-01A-01D-1534-10 TCGA-DV-5574-10A-01D-1535-10 g.chr2:228754594G>T c.136G>T c.(136-138)Gaa>Taa p.E46* KIRC 2 228758531 228758531 + Missense_Mutation SNP A A C TCGA-DV-5566-01A-01D-1534-10 TCGA-DV-5566-10A-01D-1535-10 g.chr2:228758531A>C c.338A>C c.(337-339)gAt>gCt p.D113A LGG 2 228750104 228750104 + Missense_Mutation SNP G G C TCGA-E1-5322-01A-01D-1468-08 TCGA-E1-5322-10A-01D-1468-08 g.chr2:228750104G>C c.78G>C c.(76-78)aaG>aaC p.K26N LGG 2 228755970 228755970 + Splice_Site SNP G G T TCGA-DU-6392-01A-11D-1705-08 TCGA-DU-6392-10A-01D-1705-08 g.chr2:228755970G>T c.e4-1 LGG 2 228770991 228770991 + Silent SNP C C T TCGA-HT-A5R7-01A-11D-A289-08 TCGA-HT-A5R7-10A-01D-A289-08 g.chr2:228770991C>T c.795C>T c.(793-795)agC>agT p.S265S LIHC 2 228762991 228762991 + Silent SNP A A T TCGA-UB-A7MB-01A-11D-A33Q-10 TCGA-UB-A7MB-10A-01D-A33Q-10 g.chr2:228762991A>T c.534A>T c.(532-534)gcA>gcT p.A178A LIHC 2 228767773 228767773 + Missense_Mutation SNP C C A TCGA-DD-AAEB-01A-11D-A40R-10 TCGA-DD-AAEB-10A-01D-A40U-10 g.chr2:228767773C>A c.596C>A c.(595-597)aCa>aAa p.T199K LUAD 2 228754681 228754681 + Missense_Mutation SNP G G T TCGA-78-7542-01A-21D-2063-08 TCGA-78-7542-11A-01D-2063-08 g.chr2:228754681G>T c.223G>T c.(223-225)Ggc>Tgc p.G75C LUAD 2 228756020 228756020 + Missense_Mutation SNP C C T TCGA-78-7539-01A-11D-2063-08 TCGA-78-7539-10A-01D-2063-08 g.chr2:228756020C>T c.308C>T c.(307-309)tCg>tTg p.S103L LUAD 2 228758628 228758628 + Silent SNP T T G TCGA-17-Z037-01A-01W-0746-08 TCGA-17-Z037-11A-01W-0746-08 g.chr2:228758628T>G c.435T>G c.(433-435)ccT>ccG p.P145P LUAD 2 228762934 228762934 + Silent SNP T T C TCGA-55-6986-01A-11D-1945-08 TCGA-55-6986-11A-01D-1945-08 g.chr2:228762934T>C c.477T>C c.(475-477)tgT>tgC p.C159C LUAD 2 228762983 228762983 + Missense_Mutation SNP C C T TCGA-50-6597-01A-11D-1855-08 TCGA-50-6597-10A-01D-1855-08 g.chr2:228762983C>T c.526C>T c.(526-528)Cat>Tat p.H176Y LUAD 2 228767798 228767798 + Silent SNP G G A TCGA-55-6971-01A-11D-1945-08 TCGA-55-6971-11A-01D-1945-08 g.chr2:228767798G>A c.621G>A c.(619-621)caG>caA p.Q207Q LUAD 2 228769682 228769682 + Missense_Mutation SNP C C A TCGA-55-8205-01A-11D-2238-08 TCGA-55-8205-10A-01D-2238-08 g.chr2:228769682C>A c.686C>A c.(685-687)aCc>aAc p.T229N LUAD 2 228771916 228771916 + Silent SNP A A T TCGA-64-1676-01A-01D-0969-08 TCGA-64-1676-10A-01D-0969-08 g.chr2:228771916A>T c.921A>T c.(919-921)ctA>ctT p.L307L LUAD 2 228786155 228786155 + Missense_Mutation SNP G G T TCGA-55-7910-01A-11D-2167-08 TCGA-55-7910-11A-01D-2167-08 g.chr2:228786155G>T c.1091G>T c.(1090-1092)aGc>aTc p.S364I LUAD 2 228786187 228786187 + Nonsense_Mutation SNP C C T TCGA-73-4658-01A-01D-1753-08 TCGA-73-4658-11A-01D-1753-08 g.chr2:228786187C>T c.1123C>T c.(1123-1125)Cag>Tag p.Q375* LUSC 2 228770955 228770955 + Missense_Mutation SNP G G T TCGA-18-3416-01A-01D-0983-08 TCGA-18-3416-11A-01D-0983-08 g.chr2:228770955G>T c.759G>T c.(757-759)aaG>aaT p.K253N LUSC 2 228770965 228770965 + Missense_Mutation SNP T T A TCGA-39-5019-01A-01D-1817-08 TCGA-39-5019-11A-01D-1817-08 g.chr2:228770965T>A c.769T>A c.(769-771)Tta>Ata p.L257I LUSC 2 228786214 228786214 + Missense_Mutation SNP G G A TCGA-18-3409-01A-01D-0983-08 TCGA-18-3409-11A-01D-0983-08 g.chr2:228786214G>A c.1150G>A c.(1150-1152)Gag>Aag p.E384K OV 2 228769698 228769698 + Silent SNP C C A TCGA-09-1674-01A-01W-0633-09 TCGA-09-1674-10A-01W-0633-09 g.chr2:228769698C>A c.702C>A c.(700-702)atC>atA p.I234I PAAD 2 228750066 228750066 + Splice_Site SNP G G T TCGA-IB-7651-01A-11D-2154-08 TCGA-IB-7651-10A-01D-2154-08 g.chr2:228750066G>T c.e2-1 PAAD 2 228750117 228750117 + Missense_Mutation SNP G G T TCGA-IB-7651-01A-11D-2154-08 TCGA-IB-7651-10A-01D-2154-08 g.chr2:228750117G>T c.91G>T c.(91-93)Gat>Tat p.D31Y PAAD 2 228758521 228758521 + Nonsense_Mutation SNP G G T TCGA-IB-7651-01A-11D-2154-08 TCGA-IB-7651-10A-01D-2154-08 g.chr2:228758521G>T c.328G>T c.(328-330)Gga>Tga p.G110* PAAD 2 228762908 228762908 + Missense_Mutation SNP G G A TCGA-2J-AAB1-01A-11D-A40W-08 TCGA-2J-AAB1-10A-01D-A40W-08 g.chr2:228762908G>A c.451G>A c.(451-453)Gcc>Acc p.A151T PRAD 2 228786194 228786194 + Missense_Mutation SNP G G A TCGA-HC-8216-01A-11D-A29Q-08 TCGA-HC-8216-10A-01D-A29Q-08 g.chr2:228786194G>A c.1130G>A c.(1129-1131)gGc>gAc p.G377D PRAD 2 228786221 228786221 + Missense_Mutation SNP A A C TCGA-G9-7523-01A-11D-2260-08 TCGA-G9-7523-10A-01D-2260-08 g.chr2:228786221A>C c.1157A>C c.(1156-1158)cAc>cCc p.H386P READ 2 228750096 228750096 + Nonsense_Mutation SNP G G T TCGA-AG-A002-01A-01W-A00K-09 TCGA-AG-A002-10A-01W-A00K-09 g.chr2:228750096G>T c.70G>T c.(70-72)Gaa>Taa p.E24* READ 2 228754634 228754634 + Missense_Mutation SNP G G A TCGA-AG-A002-01A-01W-A00K-09 TCGA-AG-A002-10A-01W-A00K-09 g.chr2:228754634G>A c.176G>A c.(175-177)cGa>cAa p.R59Q READ 2 228758522 228758522 + Missense_Mutation SNP G G T TCGA-AG-A002-01A-01W-A00K-09 TCGA-AG-A002-10A-01W-A00K-09 g.chr2:228758522G>T c.329G>T c.(328-330)gGa>gTa p.G110V READ 2 228758615 228758615 + Missense_Mutation SNP C C A TCGA-AG-3898-01A-01W-1073-09 TCGA-AG-3898-10A-01W-1073-09 g.chr2:228758615C>A c.422C>A c.(421-423)gCa>gAa p.A141E READ 2 228769723 228769723 + Missense_Mutation SNP G G A TCGA-AG-A02X-01A-01W-A00E-09 TCGA-AG-A02X-10A-01W-A00E-09 g.chr2:228769723G>A c.727G>A c.(727-729)Gtt>Att p.V243I READ 2 228783526 228783526 + Missense_Mutation SNP G G T TCGA-AG-3892-01A-01W-1073-09 TCGA-AG-3892-10A-01W-1073-09 g.chr2:228783526G>T c.1004G>T c.(1003-1005)aGa>aTa p.R335I SARC 2 228786181 228786181 + Missense_Mutation SNP G G A TCGA-DX-AB2E-01A-11D-A38Z-09 TCGA-DX-AB2E-10A-01D-A38Z-09 g.chr2:228786181G>A c.1117G>A c.(1117-1119)Gat>Aat p.D373N SKCM 2 228750084 228750084 + Missense_Mutation SNP G G A TCGA-EE-A3JD-06A-11D-A20D-08 TCGA-EE-A3JD-10A-01D-A20D-08 g.chr2:228750084G>A c.58G>A c.(58-60)Gaa>Aaa p.E20K SKCM 2 228750084 228750084 + Missense_Mutation SNP G G A TCGA-ER-A199-06A-11D-A197-08 TCGA-ER-A199-10A-01D-A199-08 g.chr2:228750084G>A c.58G>A c.(58-60)Gaa>Aaa p.E20K SKCM 2 228750134 228750134 + Silent SNP T T A TCGA-EE-A29N-06A-12D-A197-08 TCGA-EE-A29N-10A-01D-A199-08 g.chr2:228750134T>A c.108T>A c.(106-108)ggT>ggA p.G36G SKCM 2 228750135 228750135 + Missense_Mutation SNP C C T TCGA-EE-A29N-06A-12D-A197-08 TCGA-EE-A29N-10A-01D-A199-08 g.chr2:228750135C>T c.109C>T c.(109-111)Ccc>Tcc p.P37S SKCM 2 228750136 228750136 + Missense_Mutation SNP C C T TCGA-EE-A29N-06A-12D-A197-08 TCGA-EE-A29N-10A-01D-A199-08 g.chr2:228750136C>T c.110C>T c.(109-111)cCc>cTc p.P37L SKCM 2 228754594 228754594 + Missense_Mutation SNP G G A TCGA-FS-A1ZE-06A-11D-A197-08 TCGA-FS-A1ZE-10A-01D-A199-08 g.chr2:228754594G>A c.136G>A c.(136-138)Gaa>Aaa p.E46K SKCM 2 228754612 228754612 + Missense_Mutation SNP G G A TCGA-FW-A3R5-06A-11D-A23B-08 TCGA-FW-A3R5-10A-01D-A23B-08 g.chr2:228754612G>A c.154G>A c.(154-156)Gaa>Aaa p.E52K SKCM 2 228758545 228758545 + Missense_Mutation SNP C C T TCGA-EE-A29L-06A-12D-A196-08 TCGA-EE-A29L-10A-01D-A198-08 g.chr2:228758545C>T c.352C>T c.(352-354)Ctc>Ttc p.L118F SKCM 2 228762942 228762942 + Nonsense_Mutation SNP G G A TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 g.chr2:228762942G>A c.485G>A c.(484-486)tGg>tAg p.W162* SKCM 2 228767756 228767756 + Silent SNP G G A TCGA-GN-A4U8-06A-11D-A32N-08 TCGA-GN-A4U8-10B-01D-A32N-08 g.chr2:228767756G>A c.579G>A c.(577-579)gcG>gcA p.A193A SKCM 2 228769694 228769694 + Missense_Mutation SNP G G A TCGA-GN-A266-06A-11D-A197-08 TCGA-GN-A266-10A-01D-A199-08 g.chr2:228769694G>A c.698G>A c.(697-699)aGa>aAa p.R233K SKCM 2 228770952 228770952 + Splice_Site SNP G G A TCGA-EE-A29D-06A-11D-A197-08 TCGA-EE-A29D-10A-01D-A199-08 g.chr2:228770952G>A c.756G>A c.(754-756)agG>agA p.R252R SKCM 2 228771902 228771902 + Missense_Mutation SNP G G A TCGA-EE-A29E-06A-11D-A197-08 TCGA-EE-A29E-10A-01D-A199-08 g.chr2:228771902G>A c.907G>A c.(907-909)Gat>Aat p.D303N SKCM 2 228783512 228783512 + Silent SNP C C T TCGA-EE-A2GC-06A-11D-A197-08 TCGA-EE-A2GC-10A-01D-A199-08 g.chr2:228783512C>T c.990C>T c.(988-990)ttC>ttT p.F330F SKCM 2 228783561 228783561 + Missense_Mutation SNP G G A TCGA-EE-A2GN-06A-11D-A196-08 TCGA-EE-A2GN-10A-01D-A198-08 g.chr2:228783561G>A c.1039G>A c.(1039-1041)Gaa>Aaa p.E347K SKCM 2 228783561 228783561 + Missense_Mutation SNP G G A TCGA-FR-A69P-06A-21D-A30X-08 TCGA-FR-A69P-10A-01D-A30X-08 g.chr2:228783561G>A c.1039G>A c.(1039-1041)Gaa>Aaa p.E347K SKCM 2 228783568 228783568 + Missense_Mutation SNP C C T TCGA-EE-A2GO-06A-11D-A196-08 TCGA-EE-A2GO-10A-01D-A198-08 g.chr2:228783568C>T c.1046C>T c.(1045-1047)tCa>tTa p.S349L SKCM 2 228786135 228786135 + Silent SNP G G A TCGA-D3-A3ML-06A-11D-A21A-08 TCGA-D3-A3ML-10A-01D-A21A-08 g.chr2:228786135G>A c.1071G>A c.(1069-1071)ggG>ggA p.G357G SKCM 2 228786205 228786205 + Nonsense_Mutation SNP C C T TCGA-DA-A1HY-06A-11D-A19A-08 TCGA-DA-A1HY-10A-01D-A19A-08 g.chr2:228786205C>T c.1141C>T c.(1141-1143)Cag>Tag p.Q381* SKCM 2 228786229 228786229 + Missense_Mutation SNP G G A TCGA-FW-A3R5-06A-11D-A23B-08 TCGA-FW-A3R5-10A-01D-A23B-08 g.chr2:228786229G>A c.1165G>A c.(1165-1167)Gaa>Aaa p.E389K

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 2 228754642 228754642 single base substitution C T 3_prime_UTR_variant BLCA-CN 2 228754642 228754642 single base substitution C T exon_variant BLCA-CN 2 228754642 228754642 single base substitution C T stop_gained Q47* 139C>T BLCA-CN 2 228754642 228754642 single base substitution C T stop_gained Q62* 184C>T BLCA-CN 2 228762976 228762976 single base substitution C T 3_prime_UTR_variant BLCA-CN 2 228762976 228762976 single base substitution C T downstream_gene_variant BLCA-CN 2 228762976 228762976 single base substitution C T synonymous_variant F158F 474C>T BLCA-CN 2 228762976 228762976 single base substitution C T synonymous_variant F173F 519C>T BLCA-US 2 228754637 228754637 single base substitution C T 3_prime_UTR_variant BLCA-US 2 228754637 228754637 single base substitution C T exon_variant BLCA-US 2 228754637 228754637 single base substitution C T missense_variant T45I 134C>T BLCA-US 2 228754637 228754637 single base substitution C T missense_variant T60I 179C>T BLCA-US 2 228758558 228758558 single base substitution C T 3_prime_UTR_variant BLCA-US 2 228758558 228758558 single base substitution C T downstream_gene_variant BLCA-US 2 228758558 228758558 single base substitution C T exon_variant BLCA-US 2 228758558 228758558 single base substitution C T missense_variant A107V 320C>T BLCA-US 2 228758558 228758558 single base substitution C T missense_variant A122V 365C>T BLCA-US 2 228771965 228771965 single base substitution G C downstream_gene_variant BLCA-US 2 228771965 228771965 single base substitution G C missense_variant D309H 925G>C BLCA-US 2 228771965 228771965 single base substitution G C missense_variant D324H 970G>C BOCA-UK 2 228754570 228754570 single base substitution A C splice_acceptor_variant BRCA-EU 2 228731124 228731124 single base substitution C A upstream_gene_variant BRCA-EU 2 228732647 228732647 single base substitution G A upstream_gene_variant BRCA-EU 2 228732869 228732869 single base substitution C T upstream_gene_variant BRCA-EU 2 228734787 228734787 single base substitution A G upstream_gene_variant BRCA-EU 2 228735037 228735037 single base substitution G A upstream_gene_variant BRCA-EU 2 228735475 228735475 single base substitution T C upstream_gene_variant BRCA-EU 2 228736188 228736188 single base substitution G T 5_prime_UTR_variant BRCA-EU 2 228736188 228736188 single base substitution G T upstream_gene_variant BRCA-EU 2 228736768 228736768 single base substitution C A intron_variant BRCA-EU 2 228737078 228737078 single base substitution A T 5_prime_UTR_premature_start_codon_gain_variant BRCA-EU 2 228737078 228737078 single base substitution A T intron_variant BRCA-EU 2 228737627 228737627 single base substitution C T intron_variant BRCA-EU 2 228737652 228737652 single base substitution C A intron_variant BRCA-EU 2 228738510 228738510 single base substitution C T intron_variant BRCA-EU 2 228738643 228738643 single base substitution T A intron_variant BRCA-EU 2 228740818 228740818 single base substitution G A intron_variant BRCA-EU 2 228741620 228741620 single base substitution A C intron_variant BRCA-EU 2 228743401 228743401 single base substitution C T intron_variant BRCA-EU 2 228743774 228743774 single base substitution T A intron_variant BRCA-EU 2 228744520 228744520 single base substitution T C intron_variant BRCA-EU 2 228746571 228746571 single base substitution C T intron_variant BRCA-EU 2 228746656 228746656 single base substitution C T intron_variant BRCA-EU 2 228747221 228747221 single base substitution T G intron_variant BRCA-EU 2 228749948 228749948 single base substitution T C intron_variant BRCA-EU 2 228749948 228749948 single base substitution T C upstream_gene_variant BRCA-EU 2 228751905 228751905 single base substitution A G intron_variant BRCA-EU 2 228751905 228751905 single base substitution A G upstream_gene_variant BRCA-EU 2 228752006 228752006 single base substitution A G intron_variant BRCA-EU 2 228752006 228752006 single base substitution A G upstream_gene_variant BRCA-EU 2 228753191 228753191 single base substitution C G intron_variant BRCA-EU 2 228753191 228753191 single base substitution C G upstream_gene_variant BRCA-EU 2 228753195 228753195 single base substitution A G intron_variant BRCA-EU 2 228753195 228753195 single base substitution A G upstream_gene_variant BRCA-EU 2 228753210 228753210 single base substitution C T intron_variant BRCA-EU 2 228753210 228753210 single base substitution C T upstream_gene_variant BRCA-EU 2 228754306 228754306 single base substitution C G intron_variant BRCA-EU 2 228754316 228754316 single base substitution C G intron_variant BRCA-EU 2 228754645 228754645 single base substitution G T 3_prime_UTR_variant BRCA-EU 2 228754645 228754645 single base substitution G T exon_variant BRCA-EU 2 228754645 228754645 single base substitution G T missense_variant V48F 142G>T BRCA-EU 2 228754645 228754645 single base substitution G T missense_variant V63F 187G>T BRCA-EU 2 228754953 228754953 single base substitution T C downstream_gene_variant BRCA-EU 2 228754953 228754953 single base substitution T C intron_variant BRCA-EU 2 228755944 228755944 insertion of <=200bp - A downstream_gene_variant BRCA-EU 2 228755944 228755944 insertion of <=200bp - A intron_variant BRCA-EU 2 228756024 228756024 single base substitution C T 3_prime_UTR_variant BRCA-EU 2 228756024 228756024 single base substitution C T downstream_gene_variant BRCA-EU 2 228756024 228756024 single base substitution C T exon_variant BRCA-EU 2 228756024 228756024 single base substitution C T synonymous_variant G104G 312C>T BRCA-EU 2 228756024 228756024 single base substitution C T synonymous_variant G89G 267C>T BRCA-EU 2 228756922 228756922 single base substitution C T downstream_gene_variant BRCA-EU 2 228756922 228756922 single base substitution C T intron_variant BRCA-EU 2 228757656 228757656 single base substitution A G downstream_gene_variant BRCA-EU 2 228757656 228757656 single base substitution A G intron_variant BRCA-EU 2 228759239 228759239 single base substitution G T downstream_gene_variant BRCA-EU 2 228759239 228759239 single base substitution G T intron_variant BRCA-EU 2 228759934 228759934 single base substitution C G intron_variant BRCA-EU 2 228763032 228763032 insertion of <=200bp - TA downstream_gene_variant BRCA-EU 2 228763032 228763032 insertion of <=200bp - TA intron_variant BRCA-EU 2 228763110 228763110 single base substitution C T downstream_gene_variant BRCA-EU 2 228763110 228763110 single base substitution C T intron_variant BRCA-EU 2 228763748 228763748 single base substitution C A downstream_gene_variant BRCA-EU 2 228763748 228763748 single base substitution C A intron_variant BRCA-EU 2 228766099 228766099 single base substitution C G intron_variant BRCA-EU 2 228767922 228767922 single base substitution G A downstream_gene_variant BRCA-EU 2 228767922 228767922 single base substitution G A intron_variant BRCA-EU 2 228768363 228768363 single base substitution C T downstream_gene_variant BRCA-EU 2 228768363 228768363 single base substitution C T intron_variant BRCA-EU 2 228768673 228768673 single base substitution G C downstream_gene_variant BRCA-EU 2 228768673 228768673 single base substitution G C intron_variant BRCA-EU 2 228770766 228770766 single base substitution C T downstream_gene_variant BRCA-EU 2 228770766 228770766 single base substitution C T intron_variant BRCA-EU 2 228772094 228772094 single base substitution C T downstream_gene_variant BRCA-EU 2 228772094 228772094 single base substitution C T intron_variant BRCA-EU 2 228773430 228773430 single base substitution C T intron_variant BRCA-EU 2 228774326 228774326 single base substitution T G intron_variant BRCA-EU 2 228774820 228774820 single base substitution A G intron_variant BRCA-EU 2 228776479 228776479 single base substitution T G intron_variant BRCA-EU 2 228776536 228776536 single base substitution C G intron_variant BRCA-EU 2 228776863 228776863 single base substitution C G intron_variant BRCA-EU 2 228778071 228778071 single base substitution C G intron_variant BRCA-EU 2 228778897 228778897 single base substitution C T intron_variant BRCA-EU 2 228779854 228779854 single base substitution A T intron_variant BRCA-EU 2 228781152 228781152 single base substitution A G intron_variant BRCA-EU 2 228782138 228782138 single base substitution G A intron_variant BRCA-EU 2 228783260 228783260 single base substitution T C intron_variant BRCA-EU 2 228783585 228783585 single base substitution C G intron_variant BRCA-EU 2 228783794 228783794 single base substitution C T intron_variant BRCA-EU 2 228784116 228784116 single base substitution C T intron_variant BRCA-EU 2 228785058 228785058 single base substitution A T intron_variant BRCA-EU 2 228785191 228785191 single base substitution G T intron_variant BRCA-EU 2 228785325 228785325 single base substitution T A intron_variant BRCA-EU 2 228785758 228785758 single base substitution G A intron_variant BRCA-EU 2 228787755 228787755 single base substitution G T intron_variant BRCA-EU 2 228788090 228788090 single base substitution T C intron_variant BRCA-EU 2 228788458 228788458 single base substitution C T intron_variant BRCA-EU 2 228789594 228789594 single base substitution A C downstream_gene_variant BRCA-EU 2 228791520 228791520 insertion of <=200bp - T downstream_gene_variant BRCA-EU 2 228792142 228792142 single base substitution T C downstream_gene_variant BRCA-EU 2 228793307 228793307 single base substitution G T downstream_gene_variant BRCA-FR 2 228736188 228736188 single base substitution G T 5_prime_UTR_variant BRCA-FR 2 228736188 228736188 single base substitution G T upstream_gene_variant BRCA-FR 2 228738510 228738510 single base substitution C T intron_variant BRCA-FR 2 228752972 228752972 single base substitution G A intron_variant BRCA-FR 2 228752972 228752972 single base substitution G A upstream_gene_variant BRCA-FR 2 228763110 228763110 single base substitution C T downstream_gene_variant BRCA-FR 2 228763110 228763110 single base substitution C T intron_variant BRCA-FR 2 228778266 228778266 single base substitution G T intron_variant BRCA-FR 2 228792142 228792142 single base substitution T C downstream_gene_variant BRCA-FR 2 228793040 228793040 single base substitution C G downstream_gene_variant BRCA-UK 2 228749389 228749389 single base substitution C T intron_variant BRCA-UK 2 228749389 228749389 single base substitution C T upstream_gene_variant BRCA-UK 2 228751905 228751905 single base substitution A G intron_variant BRCA-UK 2 228751905 228751905 single base substitution A G upstream_gene_variant BRCA-US 2 228767739 228767739 single base substitution C T 3_prime_UTR_variant BRCA-US 2 228767739 228767739 single base substitution C T stop_gained Q173* 517C>T BRCA-US 2 228767739 228767739 single base substitution C T stop_gained Q188* 562C>T BRCA-US 2 228769656 228769656 single base substitution C T downstream_gene_variant BRCA-US 2 228769656 228769656 single base substitution C T synonymous_variant A205A 615C>T BRCA-US 2 228769656 228769656 single base substitution C T synonymous_variant A220A 660C>T BRCA-US 2 228769717 228769717 single base substitution C T downstream_gene_variant BRCA-US 2 228769717 228769717 single base substitution C T missense_variant H226Y 676C>T BRCA-US 2 228769717 228769717 single base substitution C T missense_variant H241Y 721C>T BRCA-US 2 228776996 228776996 single base substitution T C intron_variant BRCA-US 2 228776996 228776996 single base substitution T C missense_variant W334R 1000T>C BRCA-US 2 228777092 228777092 single base substitution G T intron_variant BRCA-US 2 228777092 228777092 single base substitution G T missense_variant G366C 1096G>T BRCA-US 2 228786260 228786260 single base substitution G A 3_prime_UTR_variant BRCA-US 2 228786260 228786260 single base substitution G A missense_variant G384D 1151G>A BRCA-US 2 228786260 228786260 single base substitution G A missense_variant G399D 1196G>A BTCA-JP 2 228736425 228736425 single base substitution T C 5_prime_UTR_variant BTCA-JP 2 228736425 228736425 single base substitution T C exon_variant BTCA-JP 2 228736425 228736425 single base substitution T C missense_variant L7P 20T>C BTCA-JP 2 228741211 228741211 single base substitution G C intron_variant BTCA-JP 2 228741211 228741211 single base substitution G C splice_donor_variant BTCA-JP 2 228771036 228771036 single base substitution T C downstream_gene_variant BTCA-JP 2 228771036 228771036 single base substitution T C synonymous_variant S265S 795T>C BTCA-JP 2 228771036 228771036 single base substitution T C synonymous_variant S280S 840T>C BTCA-JP 2 228771055 228771055 single base substitution G A downstream_gene_variant BTCA-JP 2 228771055 228771055 single base substitution G A splice_donor_variant BTCA-JP 2 228771830 228771830 single base substitution T G downstream_gene_variant BTCA-JP 2 228771830 228771830 single base substitution T G intron_variant BTCA-JP 2 228771831 228771831 single base substitution G T downstream_gene_variant BTCA-JP 2 228771831 228771831 single base substitution G T intron_variant CESC-US 2 228786123 228786123 single base substitution C T 3_prime_UTR_variant CESC-US 2 228786123 228786123 single base substitution C T synonymous_variant F338F 1014C>T CESC-US 2 228786123 228786123 single base substitution C T synonymous_variant F353F 1059C>T CLLE-ES 2 228731922 228731922 single base substitution G A upstream_gene_variant CLLE-ES 2 228732484 228732484 single base substitution G A upstream_gene_variant CLLE-ES 2 228735997 228735997 single base substitution T G 5_prime_UTR_premature_start_codon_gain_variant CLLE-ES 2 228735997 228735997 single base substitution T G upstream_gene_variant CLLE-ES 2 228766186 228766186 single base substitution G A intron_variant CLLE-ES 2 228774822 228774822 single base substitution A T intron_variant CLLE-ES 2 228777380 228777380 single base substitution T C intron_variant CLLE-ES 2 228783011 228783011 single base substitution A G intron_variant CLLE-ES 2 228784845 228784845 single base substitution C T intron_variant CLLE-ES 2 228792409 228792409 single base substitution T C downstream_gene_variant COAD-US 2 228754586 228754586 single base substitution C T 3_prime_UTR_variant COAD-US 2 228754586 228754586 single base substitution C T exon_variant COAD-US 2 228754586 228754586 single base substitution C T missense_variant A28V 83C>T COAD-US 2 228754586 228754586 single base substitution C T missense_variant A43V 128C>T COAD-US 2 228754656 228754656 single base substitution G T 3_prime_UTR_variant COAD-US 2 228754656 228754656 single base substitution G T exon_variant COAD-US 2 228754656 228754656 single base substitution G T missense_variant L51F 153G>T COAD-US 2 228754656 228754656 single base substitution G T missense_variant L66F 198G>T COAD-US 2 228755988 228755988 single base substitution A C 3_prime_UTR_variant COAD-US 2 228755988 228755988 single base substitution A C downstream_gene_variant COAD-US 2 228755988 228755988 single base substitution A C exon_variant COAD-US 2 228755988 228755988 single base substitution A C synonymous_variant I77I 231A>C COAD-US 2 228755988 228755988 single base substitution A C synonymous_variant I92I 276A>C COAD-US 2 228758554 228758554 single base substitution A T 3_prime_UTR_variant COAD-US 2 228758554 228758554 single base substitution A T downstream_gene_variant COAD-US 2 228758554 228758554 single base substitution A T exon_variant COAD-US 2 228758554 228758554 single base substitution A T missense_variant T106S 316A>T COAD-US 2 228758554 228758554 single base substitution A T missense_variant T121S 361A>T COAD-US 2 228758589 228758589 single base substitution C T 3_prime_UTR_variant COAD-US 2 228758589 228758589 single base substitution C T downstream_gene_variant COAD-US 2 228758589 228758589 single base substitution C T exon_variant COAD-US 2 228758589 228758589 single base substitution C T synonymous_variant G117G 351C>T COAD-US 2 228758589 228758589 single base substitution C T synonymous_variant G132G 396C>T COAD-US 2 228770990 228770990 single base substitution G A downstream_gene_variant COAD-US 2 228770990 228770990 single base substitution G A missense_variant S250N 749G>A COAD-US 2 228770990 228770990 single base substitution G A missense_variant S265N 794G>A COCA-CN 2 228735030 228735030 single base substitution G C upstream_gene_variant COCA-CN 2 228735035 228735035 single base substitution C T upstream_gene_variant COCA-CN 2 228736298 228736298 single base substitution G A 5_prime_UTR_variant COCA-CN 2 228736298 228736298 single base substitution G A upstream_gene_variant COCA-CN 2 228736313 228736313 single base substitution G T 5_prime_UTR_premature_start_codon_gain_variant COCA-CN 2 228736313 228736313 single base substitution G T upstream_gene_variant COCA-CN 2 228754633 228754633 single base substitution C T 3_prime_UTR_variant COCA-CN 2 228754633 228754633 single base substitution C T exon_variant COCA-CN 2 228754633 228754633 single base substitution C T stop_gained R44* 130C>T COCA-CN 2 228754633 228754633 single base substitution C T stop_gained R59* 175C>T COCA-CN 2 228754746 228754746 single base substitution G T downstream_gene_variant COCA-CN 2 228754746 228754746 single base substitution G T intron_variant COCA-CN 2 228756021 228756021 single base substitution G A 3_prime_UTR_variant COCA-CN 2 228756021 228756021 single base substitution G A downstream_gene_variant COCA-CN 2 228756021 228756021 single base substitution G A exon_variant COCA-CN 2 228756021 228756021 single base substitution G A synonymous_variant S103S 309G>A COCA-CN 2 228756021 228756021 single base substitution G A synonymous_variant S88S 264G>A COCA-CN 2 228767610 228767610 single base substitution G A intron_variant COCA-CN 2 228767782 228767782 single base substitution A C 3_prime_UTR_variant COCA-CN 2 228767782 228767782 single base substitution A C missense_variant K187T 560A>C COCA-CN 2 228767782 228767782 single base substitution A C missense_variant K202T 605A>C COCA-CN 2 228769572 228769572 single base substitution G T downstream_gene_variant COCA-CN 2 228769572 228769572 single base substitution G T intron_variant COCA-CN 2 228769598 228769598 single base substitution A C downstream_gene_variant COCA-CN 2 228769598 228769598 single base substitution A C intron_variant COCA-CN 2 228771829 228771829 single base substitution T G downstream_gene_variant COCA-CN 2 228771829 228771829 single base substitution T G intron_variant COCA-CN 2 228771830 228771830 single base substitution T G downstream_gene_variant COCA-CN 2 228771830 228771830 single base substitution T G intron_variant COCA-CN 2 228771831 228771831 single base substitution G T downstream_gene_variant COCA-CN 2 228771831 228771831 single base substitution G T intron_variant COCA-CN 2 228777312 228777312 single base substitution G A intron_variant COCA-CN 2 228786050 228786050 single base substitution G T intron_variant COCA-CN 2 228786301 228786301 single base substitution G A intron_variant EOPC-DE 2 228738334 228738334 single base substitution T C intron_variant EOPC-DE 2 228770209 228770209 single base substitution G T downstream_gene_variant EOPC-DE 2 228770209 228770209 single base substitution G T intron_variant ESAD-UK 2 228736009 228736009 single base substitution G A 5_prime_UTR_variant ESAD-UK 2 228736009 228736009 single base substitution G A upstream_gene_variant ESAD-UK 2 228737711 228737711 single base substitution G A intron_variant ESAD-UK 2 228739054 228739054 single base substitution T C intron_variant ESAD-UK 2 228739437 228739437 single base substitution A C intron_variant ESAD-UK 2 228739731 228739731 single base substitution A G intron_variant ESAD-UK 2 228740738 228740738 insertion of <=200bp - C intron_variant ESAD-UK 2 228740738 228740738 single base substitution T C intron_variant ESAD-UK 2 228741032 228741032 single base substitution G T intron_variant ESAD-UK 2 228742470 228742470 single base substitution C T intron_variant ESAD-UK 2 228742599 228742599 single base substitution C T intron_variant ESAD-UK 2 228742751 228742751 single base substitution A G intron_variant ESAD-UK 2 228743382 228743382 single base substitution G A intron_variant ESAD-UK 2 228745305 228745305 single base substitution G A intron_variant ESAD-UK 2 228747886 228747886 single base substitution T A intron_variant ESAD-UK 2 228749967 228749967 single base substitution T A intron_variant ESAD-UK 2 228749967 228749967 single base substitution T A upstream_gene_variant ESAD-UK 2 228751161 228751161 single base substitution C T intron_variant ESAD-UK 2 228751161 228751161 single base substitution C T upstream_gene_variant ESAD-UK 2 228752980 228752980 single base substitution T C intron_variant ESAD-UK 2 228752980 228752980 single base substitution T C upstream_gene_variant ESAD-UK 2 228753362 228753362 single base substitution G A intron_variant ESAD-UK 2 228753362 228753362 single base substitution G A upstream_gene_variant ESAD-UK 2 228753661 228753661 single base substitution T C intron_variant ESAD-UK 2 228753661 228753661 single base substitution T C upstream_gene_variant ESAD-UK 2 228755393 228755393 single base substitution T G downstream_gene_variant ESAD-UK 2 228755393 228755393 single base substitution T G intron_variant ESAD-UK 2 228758156 228758156 single base substitution C T downstream_gene_variant ESAD-UK 2 228758156 228758156 single base substitution C T intron_variant ESAD-UK 2 228758249 228758249 single base substitution G A downstream_gene_variant ESAD-UK 2 228758249 228758249 single base substitution G A intron_variant ESAD-UK 2 228758436 228758436 single base substitution C G downstream_gene_variant ESAD-UK 2 228758436 228758436 single base substitution C G intron_variant ESAD-UK 2 228760060 228760060 single base substitution T C intron_variant ESAD-UK 2 228760549 228760549 single base substitution G C downstream_gene_variant ESAD-UK 2 228760549 228760549 single base substitution G C intron_variant ESAD-UK 2 228760774 228760774 single base substitution T G downstream_gene_variant ESAD-UK 2 228760774 228760774 single base substitution T G intron_variant ESAD-UK 2 228760838 228760838 single base substitution C T downstream_gene_variant ESAD-UK 2 228760838 228760838 single base substitution C T intron_variant ESAD-UK 2 228764841 228764841 single base substitution G C downstream_gene_variant ESAD-UK 2 228764841 228764841 single base substitution G C intron_variant ESAD-UK 2 228765304 228765304 single base substitution G T downstream_gene_variant ESAD-UK 2 228765304 228765304 single base substitution G T intron_variant ESAD-UK 2 228766461 228766461 single base substitution A G intron_variant ESAD-UK 2 228768577 228768577 single base substitution T G downstream_gene_variant ESAD-UK 2 228768577 228768577 single base substitution T G intron_variant ESAD-UK 2 228774040 228774040 single base substitution A G intron_variant ESAD-UK 2 228774678 228774678 single base substitution G A intron_variant ESAD-UK 2 228776098 228776099 deletion of <=200bp TA - intron_variant ESAD-UK 2 228776980 228776980 single base substitution G A intron_variant ESAD-UK 2 228776980 228776980 single base substitution G A synonymous_variant S328S 984G>A ESAD-UK 2 228777069 228777069 single base substitution C T intron_variant ESAD-UK 2 228777069 228777069 single base substitution C T missense_variant P358L 1073C>T ESAD-UK 2 228777073 228777073 single base substitution C T intron_variant ESAD-UK 2 228777073 228777073 single base substitution C T synonymous_variant P359P 1077C>T ESAD-UK 2 228777357 228777357 single base substitution A C intron_variant ESAD-UK 2 228777973 228777973 single base substitution C A intron_variant ESAD-UK 2 228780052 228780053 deletion of <=200bp TA - intron_variant ESAD-UK 2 228780068 228780068 single base substitution C G intron_variant ESAD-UK 2 228782383 228782383 single base substitution T G intron_variant ESAD-UK 2 228785100 228785100 single base substitution T A intron_variant ESAD-UK 2 228785403 228785403 insertion of <=200bp - T intron_variant ESAD-UK 2 228787655 228787655 single base substitution A G intron_variant ESAD-UK 2 228787911 228787911 single base substitution C T intron_variant ESAD-UK 2 228788337 228788337 single base substitution C T intron_variant ESAD-UK 2 228789250 228789250 single base substitution C T downstream_gene_variant ESAD-UK 2 228789389 228789389 single base substitution C T downstream_gene_variant ESAD-UK 2 228792131 228792131 single base substitution C G downstream_gene_variant ESAD-UK 2 228792351 228792351 single base substitution T G downstream_gene_variant ESCA-CN 2 228758538 228758538 single base substitution G A 3_prime_UTR_variant ESCA-CN 2 228758538 228758538 single base substitution G A downstream_gene_variant ESCA-CN 2 228758538 228758538 single base substitution G A exon_variant ESCA-CN 2 228758538 228758538 single base substitution G A synonymous_variant T100T 300G>A ESCA-CN 2 228758538 228758538 single base substitution G A synonymous_variant T115T 345G>A ESCA-CN 2 228771820 228771820 deletion of <=200bp T - downstream_gene_variant ESCA-CN 2 228771820 228771820 deletion of <=200bp T - intron_variant ESCA-CN 2 228771831 228771831 single base substitution G T downstream_gene_variant ESCA-CN 2 228771831 228771831 single base substitution G T intron_variant KIRC-US 2 228754578 228754578 single base substitution T A 3_prime_UTR_variant KIRC-US 2 228754578 228754578 single base substitution T A exon_variant KIRC-US 2 228754578 228754578 single base substitution T A missense_variant D25E 75T>A KIRC-US 2 228754578 228754578 single base substitution T A missense_variant D40E 120T>A KIRC-US 2 228754594 228754594 single base substitution G T 3_prime_UTR_variant KIRC-US 2 228754594 228754594 single base substitution G T exon_variant KIRC-US 2 228754594 228754594 single base substitution G T stop_gained E31* 91G>T KIRC-US 2 228754594 228754594 single base substitution G T stop_gained E46* 136G>T KIRC-US 2 228758531 228758531 single base substitution A C 3_prime_UTR_variant KIRC-US 2 228758531 228758531 single base substitution A C downstream_gene_variant KIRC-US 2 228758531 228758531 single base substitution A C exon_variant KIRC-US 2 228758531 228758531 single base substitution A C missense_variant D113A 338A>C KIRC-US 2 228758531 228758531 single base substitution A C missense_variant D98A 293A>C LAML-KR 2 228750239 228750239 single base substitution G T intron_variant LAML-KR 2 228750239 228750239 single base substitution G T upstream_gene_variant LAML-KR 2 228767631 228767631 single base substitution G T intron_variant LGG-US 2 228750104 228750104 single base substitution G C 3_prime_UTR_variant LGG-US 2 228750104 228750104 single base substitution G C missense_variant K11N 33G>C LGG-US 2 228750104 228750104 single base substitution G C missense_variant K26N 78G>C LGG-US 2 228750104 228750104 single base substitution G C upstream_gene_variant LICA-CN 2 228786215 228786215 single base substitution A T 3_prime_UTR_variant LICA-CN 2 228786215 228786215 single base substitution A T missense_variant E369V 1106A>T LICA-CN 2 228786215 228786215 single base substitution A T missense_variant E384V 1151A>T LICA-FR 2 228733257 228733257 single base substitution C T upstream_gene_variant LICA-FR 2 228734714 228734714 single base substitution G A upstream_gene_variant LICA-FR 2 228749342 228749342 single base substitution C G intron_variant LICA-FR 2 228749342 228749342 single base substitution C G upstream_gene_variant LICA-FR 2 228758665 228758665 single base substitution A G downstream_gene_variant LICA-FR 2 228758665 228758665 single base substitution A G intron_variant LICA-FR 2 228761113 228761113 single base substitution G A downstream_gene_variant LICA-FR 2 228761113 228761113 single base substitution G A intron_variant LICA-FR 2 228778645 228778647 deletion of <=200bp TCA - intron_variant LICA-FR 2 228784833 228784833 single base substitution T A intron_variant LICA-FR 2 228786459 228786459 single base substitution A G intron_variant LICA-FR 2 228786862 228786862 single base substitution C T intron_variant LIHC-US 2 228762991 228762991 single base substitution A T 3_prime_UTR_variant LIHC-US 2 228762991 228762991 single base substitution A T downstream_gene_variant LIHC-US 2 228762991 228762991 single base substitution A T synonymous_variant A163A 489A>T LIHC-US 2 228762991 228762991 single base substitution A T synonymous_variant A178A 534A>T LINC-JP 2 228740972 228740972 single base substitution G T intron_variant LINC-JP 2 228741217 228741217 single base substitution G C intron_variant LINC-JP 2 228741217 228741217 single base substitution G C splice_region_variant LINC-JP 2 228744356 228744356 single base substitution C A intron_variant LINC-JP 2 228745056 228745056 single base substitution T A intron_variant LINC-JP 2 228752009 228752009 single base substitution C T intron_variant LINC-JP 2 228752009 228752009 single base substitution C T upstream_gene_variant LINC-JP 2 228752716 228752716 single base substitution C A intron_variant LINC-JP 2 228752716 228752716 single base substitution C A upstream_gene_variant LINC-JP 2 228762918 228762918 single base substitution C A 3_prime_UTR_variant LINC-JP 2 228762918 228762918 single base substitution C A downstream_gene_variant LINC-JP 2 228762918 228762918 single base substitution C A missense_variant S139Y 416C>A LINC-JP 2 228762918 228762918 single base substitution C A missense_variant S154Y 461C>A LINC-JP 2 228767939 228767939 single base substitution G A downstream_gene_variant LINC-JP 2 228767939 228767939 single base substitution G A intron_variant LINC-JP 2 228769527 228769527 single base substitution T A downstream_gene_variant LINC-JP 2 228769527 228769527 single base substitution T A intron_variant LINC-JP 2 228771820 228771820 insertion of <=200bp - T downstream_gene_variant LINC-JP 2 228771820 228771820 insertion of <=200bp - T intron_variant LINC-JP 2 228780411 228780419 deletion of <=200bp TATATGTAC - intron_variant LINC-JP 2 228783651 228783651 single base substitution C G intron_variant LINC-JP 2 228783734 228783734 single base substitution T C intron_variant LINC-JP 2 228784688 228784688 single base substitution C T intron_variant LINC-JP 2 228793332 228793332 single base substitution T C downstream_gene_variant LIRI-JP 2 228731158 228731158 single base substitution C T upstream_gene_variant LIRI-JP 2 228731533 228731533 single base substitution G A upstream_gene_variant LIRI-JP 2 228732613 228732613 single base substitution T C upstream_gene_variant LIRI-JP 2 228732803 228732803 single base substitution A G upstream_gene_variant LIRI-JP 2 228733645 228733645 single base substitution A G upstream_gene_variant LIRI-JP 2 228734611 228734611 single base substitution A G upstream_gene_variant LIRI-JP 2 228735913 228735913 single base substitution A T 5_prime_UTR_variant LIRI-JP 2 228735913 228735913 single base substitution A T upstream_gene_variant LIRI-JP 2 228738956 228738956 single base substitution G A intron_variant LIRI-JP 2 228738991 228738991 single base substitution A C intron_variant LIRI-JP 2 228740075 228740075 single base substitution T C intron_variant LIRI-JP 2 228741028 228741028 single base substitution G A intron_variant LIRI-JP 2 228742318 228742318 single base substitution T C intron_variant LIRI-JP 2 228743991 228743991 single base substitution G C intron_variant LIRI-JP 2 228744080 228744080 single base substitution G A intron_variant LIRI-JP 2 228744328 228744328 single base substitution G A intron_variant LIRI-JP 2 228744369 228744369 single base substitution T C intron_variant LIRI-JP 2 228744661 228744661 single base substitution A G intron_variant LIRI-JP 2 228747897 228747897 single base substitution A G intron_variant LIRI-JP 2 228748095 228748095 single base substitution A G intron_variant LIRI-JP 2 228748787 228748787 single base substitution C T intron_variant LIRI-JP 2 228750015 228750015 single base substitution G T intron_variant LIRI-JP 2 228750015 228750015 single base substitution G T upstream_gene_variant LIRI-JP 2 228751191 228751191 single base substitution G A intron_variant LIRI-JP 2 228751191 228751191 single base substitution G A upstream_gene_variant LIRI-JP 2 228751676 228751676 single base substitution A G intron_variant LIRI-JP 2 228751676 228751676 single base substitution A G upstream_gene_variant LIRI-JP 2 228751873 228751873 single base substitution C A intron_variant LIRI-JP 2 228751873 228751873 single base substitution C A upstream_gene_variant LIRI-JP 2 228752413 228752413 single base substitution T G intron_variant LIRI-JP 2 228752413 228752413 single base substitution T G upstream_gene_variant LIRI-JP 2 228753101 228753101 single base substitution C A intron_variant LIRI-JP 2 228753101 228753101 single base substitution C A upstream_gene_variant LIRI-JP 2 228753702 228753702 single base substitution A G intron_variant LIRI-JP 2 228753702 228753702 single base substitution A G upstream_gene_variant LIRI-JP 2 228755271 228755271 single base substitution A G downstream_gene_variant LIRI-JP 2 228755271 228755271 single base substitution A G intron_variant LIRI-JP 2 228757719 228757719 single base substitution C A downstream_gene_variant LIRI-JP 2 228757719 228757719 single base substitution C A intron_variant LIRI-JP 2 228759016 228759016 single base substitution C T downstream_gene_variant LIRI-JP 2 228759016 228759016 single base substitution C T intron_variant LIRI-JP 2 228759025 228759025 single base substitution G A downstream_gene_variant LIRI-JP 2 228759025 228759025 single base substitution G A intron_variant LIRI-JP 2 228759366 228759366 single base substitution A T downstream_gene_variant LIRI-JP 2 228759366 228759366 single base substitution A T intron_variant LIRI-JP 2 228760925 228760925 single base substitution C T downstream_gene_variant LIRI-JP 2 228760925 228760925 single base substitution C T intron_variant LIRI-JP 2 228761950 228761950 single base substitution G C downstream_gene_variant LIRI-JP 2 228761950 228761950 single base substitution G C intron_variant LIRI-JP 2 228762961 228762961 single base substitution A G 3_prime_UTR_variant LIRI-JP 2 228762961 228762961 single base substitution A G downstream_gene_variant LIRI-JP 2 228762961 228762961 single base substitution A G synonymous_variant K153K 459A>G LIRI-JP 2 228762961 228762961 single base substitution A G synonymous_variant K168K 504A>G LIRI-JP 2 228762987 228762987 deletion of <=200bp C - 3_prime_UTR_variant LIRI-JP 2 228762987 228762987 deletion of <=200bp C - downstream_gene_variant LIRI-JP 2 228762987 228762987 deletion of <=200bp C - frameshift_variant T162 LIRI-JP 2 228762987 228762987 deletion of <=200bp C - frameshift_variant T177 LIRI-JP 2 228763152 228763152 single base substitution T A downstream_gene_variant LIRI-JP 2 228763152 228763152 single base substitution T A intron_variant LIRI-JP 2 228763883 228763883 single base substitution T C downstream_gene_variant LIRI-JP 2 228763883 228763883 single base substitution T C intron_variant LIRI-JP 2 228764375 228764375 single base substitution T A downstream_gene_variant LIRI-JP 2 228764375 228764375 single base substitution T A intron_variant LIRI-JP 2 228764993 228764993 single base substitution T C downstream_gene_variant LIRI-JP 2 228764993 228764993 single base substitution T C intron_variant LIRI-JP 2 228765873 228765873 single base substitution C A intron_variant LIRI-JP 2 228768589 228768589 single base substitution T C downstream_gene_variant LIRI-JP 2 228768589 228768589 single base substitution T C intron_variant LIRI-JP 2 228768947 228768947 single base substitution A G downstream_gene_variant LIRI-JP 2 228768947 228768947 single base substitution A G intron_variant LIRI-JP 2 228771101 228771101 single base substitution C G downstream_gene_variant LIRI-JP 2 228771101 228771101 single base substitution C G intron_variant LIRI-JP 2 228771755 228771755 single base substitution A C downstream_gene_variant LIRI-JP 2 228771755 228771755 single base substitution A C intron_variant LIRI-JP 2 228771899 228771899 single base substitution C A downstream_gene_variant LIRI-JP 2 228771899 228771899 single base substitution C A missense_variant H287N 859C>A LIRI-JP 2 228771899 228771899 single base substitution C A missense_variant H302N 904C>A LIRI-JP 2 228772109 228772109 single base substitution A G downstream_gene_variant LIRI-JP 2 228772109 228772109 single base substitution A G intron_variant LIRI-JP 2 228772544 228772544 single base substitution G A downstream_gene_variant LIRI-JP 2 228772544 228772544 single base substitution G A intron_variant LIRI-JP 2 228773146 228773146 single base substitution C T intron_variant LIRI-JP 2 228773323 228773323 single base substitution T C intron_variant LIRI-JP 2 228775177 228775177 single base substitution G T intron_variant LIRI-JP 2 228776103 228776103 single base substitution A G intron_variant LIRI-JP 2 228777190 228777190 single base substitution G A intron_variant LIRI-JP 2 228777190 228777190 single base substitution G A splice_region_variant LIRI-JP 2 228777315 228777315 single base substitution C T intron_variant LIRI-JP 2 228777924 228777924 single base substitution G T intron_variant LIRI-JP 2 228778104 228778104 single base substitution C T intron_variant LIRI-JP 2 228782268 228782268 single base substitution G A intron_variant LIRI-JP 2 228783019 228783019 single base substitution A T intron_variant LIRI-JP 2 228783048 228783048 single base substitution G T intron_variant LIRI-JP 2 228786206 228786206 single base substitution A G 3_prime_UTR_variant LIRI-JP 2 228786206 228786206 single base substitution A G missense_variant Q366R 1097A>G LIRI-JP 2 228786206 228786206 single base substitution A G missense_variant Q381R 1142A>G LIRI-JP 2 228786520 228786520 single base substitution G A intron_variant LIRI-JP 2 228786795 228786795 single base substitution G A intron_variant LIRI-JP 2 228787345 228787345 single base substitution A T intron_variant LIRI-JP 2 228787567 228787567 single base substitution A G intron_variant LIRI-JP 2 228788394 228788394 single base substitution C A intron_variant LIRI-JP 2 228788395 228788395 single base substitution C T intron_variant LIRI-JP 2 228789485 228789485 single base substitution C T downstream_gene_variant LIRI-JP 2 228789500 228789500 single base substitution G A downstream_gene_variant LIRI-JP 2 228790728 228790728 single base substitution T C downstream_gene_variant LIRI-JP 2 228791833 228791833 single base substitution T A downstream_gene_variant LIRI-JP 2 228792357 228792357 single base substitution T A downstream_gene_variant LIRI-JP 2 228792467 228792467 single base substitution G T downstream_gene_variant LIRI-JP 2 228793035 228793035 single base substitution G A downstream_gene_variant LIRI-JP 2 228793207 228793207 single base substitution C A downstream_gene_variant LIRI-JP 2 228793668 228793668 single base substitution C G downstream_gene_variant LUSC-KR 2 228730776 228730776 single base substitution G T upstream_gene_variant LUSC-KR 2 228730804 228730804 single base substitution C A upstream_gene_variant LUSC-KR 2 228732805 228732805 single base substitution C A upstream_gene_variant LUSC-KR 2 228734937 228734937 single base substitution G C upstream_gene_variant LUSC-KR 2 228736310 228736310 single base substitution C A 5_prime_UTR_variant LUSC-KR 2 228736310 228736310 single base substitution C A upstream_gene_variant LUSC-KR 2 228737352 228737352 single base substitution G T intron_variant LUSC-KR 2 228737662 228737662 single base substitution C A intron_variant LUSC-KR 2 228738307 228738307 single base substitution T C intron_variant LUSC-KR 2 228740104 228740104 single base substitution C T intron_variant LUSC-KR 2 228745718 228745718 single base substitution G T intron_variant LUSC-KR 2 228749665 228749665 single base substitution C A intron_variant LUSC-KR 2 228749665 228749665 single base substitution C A upstream_gene_variant LUSC-KR 2 228754286 228754286 single base substitution C T exon_variant LUSC-KR 2 228754286 228754286 single base substitution C T intron_variant LUSC-KR 2 228756398 228756398 single base substitution C T downstream_gene_variant LUSC-KR 2 228756398 228756398 single base substitution C T intron_variant LUSC-KR 2 228762113 228762113 single base substitution G T downstream_gene_variant LUSC-KR 2 228762113 228762113 single base substitution G T intron_variant LUSC-KR 2 228765574 228765574 single base substitution G A intron_variant LUSC-KR 2 228765576 228765576 single base substitution C A intron_variant LUSC-KR 2 228768369 228768369 single base substitution A C downstream_gene_variant LUSC-KR 2 228768369 228768369 single base substitution A C intron_variant LUSC-KR 2 228768784 228768784 single base substitution T A downstream_gene_variant LUSC-KR 2 228768784 228768784 single base substitution T A intron_variant LUSC-KR 2 228772326 228772326 single base substitution C T downstream_gene_variant LUSC-KR 2 228772326 228772326 single base substitution C T intron_variant LUSC-KR 2 228772436 228772436 single base substitution G T downstream_gene_variant LUSC-KR 2 228772436 228772436 single base substitution G T intron_variant LUSC-KR 2 228773295 228773295 single base substitution G A intron_variant LUSC-KR 2 228773564 228773564 single base substitution C A intron_variant LUSC-KR 2 228773651 228773651 single base substitution C A intron_variant LUSC-KR 2 228774553 228774553 single base substitution G T intron_variant LUSC-KR 2 228776407 228776407 single base substitution T C intron_variant LUSC-KR 2 228778629 228778629 single base substitution G A intron_variant LUSC-KR 2 228781798 228781798 single base substitution G T intron_variant LUSC-KR 2 228781850 228781850 single base substitution A G intron_variant LUSC-KR 2 228783037 228783037 single base substitution G A intron_variant LUSC-KR 2 228784069 228784069 single base substitution C T intron_variant LUSC-KR 2 228786064 228786064 single base substitution T C intron_variant LUSC-KR 2 228786654 228786654 single base substitution G C intron_variant LUSC-KR 2 228788649 228788649 single base substitution G C splice_acceptor_variant LUSC-KR 2 228791675 228791675 single base substitution T A downstream_gene_variant LUSC-KR 2 228792905 228792905 single base substitution G A downstream_gene_variant LUSC-US 2 228770955 228770955 single base substitution G T downstream_gene_variant LUSC-US 2 228770955 228770955 single base substitution G T missense_variant K238N 714G>T LUSC-US 2 228770955 228770955 single base substitution G T missense_variant K253N 759G>T LUSC-US 2 228770965 228770965 single base substitution T A downstream_gene_variant LUSC-US 2 228770965 228770965 single base substitution T A missense_variant L242I 724T>A LUSC-US 2 228770965 228770965 single base substitution T A missense_variant L257I 769T>A LUSC-US 2 228786214 228786214 single base substitution G A 3_prime_UTR_variant LUSC-US 2 228786214 228786214 single base substitution G A missense_variant E369K 1105G>A LUSC-US 2 228786214 228786214 single base substitution G A missense_variant E384K 1150G>A MALY-DE 2 228734093 228734093 deletion of <=200bp T - upstream_gene_variant MALY-DE 2 228741035 228741035 single base substitution C G intron_variant MALY-DE 2 228741330 228741330 single base substitution T G intron_variant MALY-DE 2 228773978 228773978 single base substitution A G intron_variant MALY-DE 2 228774390 228774390 single base substitution C A intron_variant MALY-DE 2 228776022 228776022 single base substitution G A intron_variant MALY-DE 2 228778533 228778533 single base substitution T C intron_variant MALY-DE 2 228781133 228781133 single base substitution C T intron_variant MALY-DE 2 228781898 228781898 single base substitution A G intron_variant MALY-DE 2 228787462 228787462 single base substitution C T intron_variant MALY-DE 2 228789370 228789370 deletion of <=200bp A - downstream_gene_variant MALY-DE 2 228790458 228790458 single base substitution G A downstream_gene_variant MELA-AU 2 228730802 228730802 single base substitution C T upstream_gene_variant MELA-AU 2 228730814 228730814 single base substitution C T upstream_gene_variant MELA-AU 2 228730883 228730884 multiple base substitution (>=2bp and <=200bp) CC TT upstream_gene_variant MELA-AU 2 228730909 228730909 single base substitution C T upstream_gene_variant MELA-AU 2 228731881 228731881 single base substitution C T upstream_gene_variant MELA-AU 2 228732020 228732020 single base substitution G A upstream_gene_variant MELA-AU 2 228732098 228732098 single base substitution G A upstream_gene_variant MELA-AU 2 228732208 228732208 single base substitution G A upstream_gene_variant MELA-AU 2 228732209 228732209 single base substitution G A upstream_gene_variant MELA-AU 2 228732210 228732210 single base substitution G A upstream_gene_variant MELA-AU 2 228732280 228732280 single base substitution C T upstream_gene_variant MELA-AU 2 228732453 228732453 single base substitution C T upstream_gene_variant MELA-AU 2 228732654 228732654 single base substitution C T upstream_gene_variant MELA-AU 2 228732680 228732680 single base substitution T A upstream_gene_variant MELA-AU 2 228732690 228732690 single base substitution G A upstream_gene_variant MELA-AU 2 228732698 228732698 single base substitution G A upstream_gene_variant MELA-AU 2 228732766 228732766 single base substitution A G upstream_gene_variant MELA-AU 2 228732786 228732786 single base substitution G A upstream_gene_variant MELA-AU 2 228732814 228732814 single base substitution C T upstream_gene_variant MELA-AU 2 228733014 228733014 single base substitution C T upstream_gene_variant MELA-AU 2 228733033 228733033 single base substitution C T upstream_gene_variant MELA-AU 2 228733435 228733435 single base substitution C T upstream_gene_variant MELA-AU 2 228733501 228733501 single base substitution C T upstream_gene_variant MELA-AU 2 228733752 228733752 single base substitution C T upstream_gene_variant MELA-AU 2 228734161 228734161 single base substitution C T upstream_gene_variant MELA-AU 2 228734214 228734214 insertion of <=200bp - T upstream_gene_variant MELA-AU 2 228734217 228734217 single base substitution C T upstream_gene_variant MELA-AU 2 228734220 228734220 single base substitution C T upstream_gene_variant MELA-AU 2 228734289 228734289 single base substitution C T upstream_gene_variant MELA-AU 2 228734370 228734370 single base substitution C T upstream_gene_variant MELA-AU 2 228734411 228734411 single base substitution C T upstream_gene_variant MELA-AU 2 228734641 228734641 single base substitution G A upstream_gene_variant MELA-AU 2 228734870 228734870 single base substitution G A upstream_gene_variant MELA-AU 2 228734871 228734871 single base substitution G A upstream_gene_variant MELA-AU 2 228734899 228734899 single base substitution C T upstream_gene_variant MELA-AU 2 228735083 228735083 single base substitution G A upstream_gene_variant MELA-AU 2 228735157 228735157 single base substitution G A upstream_gene_variant MELA-AU 2 228735183 228735183 single base substitution G A upstream_gene_variant MELA-AU 2 228735258 228735258 single base substitution C T upstream_gene_variant MELA-AU 2 228735345 228735345 single base substitution C T upstream_gene_variant MELA-AU 2 228735395 228735395 single base substitution C T upstream_gene_variant MELA-AU 2 228735617 228735617 single base substitution C T upstream_gene_variant MELA-AU 2 228735810 228735810 single base substitution C T 5_prime_UTR_variant MELA-AU 2 228735810 228735810 single base substitution C T upstream_gene_variant MELA-AU 2 228735998 228735998 single base substitution T G 5_prime_UTR_premature_start_codon_gain_variant MELA-AU 2 228735998 228735998 single base substitution T G upstream_gene_variant MELA-AU 2 228736077 228736077 single base substitution C T 5_prime_UTR_variant MELA-AU 2 228736077 228736077 single base substitution C T upstream_gene_variant MELA-AU 2 228736084 228736084 single base substitution G A 5_prime_UTR_variant MELA-AU 2 228736084 228736084 single base substitution G A upstream_gene_variant MELA-AU 2 228736390 228736390 single base substitution A C 5_prime_UTR_variant MELA-AU 2 228736472 228736472 single base substitution C T intron_variant MELA-AU 2 228736549 228736549 single base substitution C T intron_variant MELA-AU 2 228737107 228737107 single base substitution C T 5_prime_UTR_variant MELA-AU 2 228737107 228737107 single base substitution C T intron_variant MELA-AU 2 228737259 228737259 single base substitution G A intron_variant MELA-AU 2 228737278 228737278 single base substitution C T intron_variant MELA-AU 2 228737331 228737331 single base substitution C T intron_variant MELA-AU 2 228737356 228737356 single base substitution C T intron_variant MELA-AU 2 228737543 228737543 single base substitution C T intron_variant MELA-AU 2 228737648 228737648 single base substitution G A intron_variant MELA-AU 2 228737857 228737857 single base substitution C T intron_variant MELA-AU 2 228738061 228738061 single base substitution C T intron_variant MELA-AU 2 228738199 228738199 single base substitution A G intron_variant MELA-AU 2 228738200 228738200 single base substitution T A intron_variant MELA-AU 2 228738201 228738201 single base substitution G A intron_variant MELA-AU 2 228738490 228738490 single base substitution G A intron_variant MELA-AU 2 228738759 228738759 single base substitution G A intron_variant MELA-AU 2 228738946 228738946 single base substitution A G intron_variant MELA-AU 2 228739117 228739117 single base substitution C T intron_variant MELA-AU 2 228739605 228739605 single base substitution G A intron_variant MELA-AU 2 228739895 228739895 single base substitution C T intron_variant MELA-AU 2 228740037 228740037 single base substitution G A intron_variant MELA-AU 2 228740216 228740216 single base substitution C T intron_variant MELA-AU 2 228740253 228740253 single base substitution C T intron_variant MELA-AU 2 228740271 228740271 single base substitution T A intron_variant MELA-AU 2 228740281 228740281 single base substitution C T intron_variant MELA-AU 2 228740299 228740299 single base substitution G A intron_variant MELA-AU 2 228740443 228740443 single base substitution C T intron_variant MELA-AU 2 228740446 228740446 single base substitution G A intron_variant MELA-AU 2 228740498 228740498 single base substitution C T intron_variant MELA-AU 2 228740532 228740532 single base substitution G A intron_variant MELA-AU 2 228740841 228740841 single base substitution C T intron_variant MELA-AU 2 228741243 228741243 single base substitution G A intron_variant MELA-AU 2 228741251 228741251 single base substitution A T intron_variant MELA-AU 2 228741849 228741849 single base substitution G A intron_variant MELA-AU 2 228741993 228741993 single base substitution C G intron_variant MELA-AU 2 228742370 228742370 single base substitution C T intron_variant MELA-AU 2 228742398 228742398 single base substitution G A intron_variant MELA-AU 2 228743020 228743020 single base substitution A G intron_variant MELA-AU 2 228743073 228743073 single base substitution T G intron_variant MELA-AU 2 228743185 228743185 single base substitution C T intron_variant MELA-AU 2 228743296 228743296 single base substitution G A intron_variant MELA-AU 2 228743297 228743297 single base substitution G A intron_variant MELA-AU 2 228743577 228743577 single base substitution C T intron_variant MELA-AU 2 228743594 228743594 single base substitution C T intron_variant MELA-AU 2 228744030 228744030 single base substitution C T intron_variant MELA-AU 2 228744118 228744118 single base substitution A G intron_variant MELA-AU 2 228744136 228744136 single base substitution C T intron_variant MELA-AU 2 228744184 228744184 single base substitution T C intron_variant MELA-AU 2 228744488 228744488 single base substitution G A intron_variant MELA-AU 2 228745122 228745122 single base substitution G A intron_variant MELA-AU 2 228745388 228745388 single base substitution G A intron_variant MELA-AU 2 228745445 228745445 single base substitution C T intron_variant MELA-AU 2 228745562 228745562 single base substitution G A intron_variant MELA-AU 2 228746174 228746174 single base substitution C T intron_variant MELA-AU 2 228746295 228746295 single base substitution C T intron_variant MELA-AU 2 228746345 228746345 single base substitution C T intron_variant MELA-AU 2 228746391 228746391 single base substitution T G intron_variant MELA-AU 2 228746563 228746563 single base substitution G A intron_variant MELA-AU 2 228746604 228746604 single base substitution G A intron_variant MELA-AU 2 228746767 228746767 single base substitution C T intron_variant MELA-AU 2 228746834 228746834 single base substitution C T intron_variant MELA-AU 2 228746991 228746991 single base substitution G A intron_variant MELA-AU 2 228747196 228747196 single base substitution G A intron_variant MELA-AU 2 228747379 228747379 single base substitution T A intron_variant MELA-AU 2 228747448 228747448 single base substitution G A intron_variant MELA-AU 2 228747448 228747461 deletion of <=200bp GGGGAGGTTCCCCC - intron_variant MELA-AU 2 228747500 228747500 single base substitution C T intron_variant MELA-AU 2 228747506 228747506 single base substitution G A intron_variant MELA-AU 2 228747579 228747579 single base substitution C T intron_variant MELA-AU 2 228747610 228747610 single base substitution C T intron_variant MELA-AU 2 228747673 228747673 single base substitution C T intron_variant MELA-AU 2 228747689 228747689 single base substitution C T intron_variant MELA-AU 2 228747731 228747731 single base substitution G A intron_variant MELA-AU 2 228747745 228747745 single base substitution T C intron_variant MELA-AU 2 228747758 228747758 single base substitution G A intron_variant MELA-AU 2 228747880 228747880 single base substitution C T intron_variant MELA-AU 2 228747910 228747910 single base substitution C T intron_variant MELA-AU 2 228748307 228748307 single base substitution G A intron_variant MELA-AU 2 228748343 228748343 single base substitution C T intron_variant MELA-AU 2 228748613 228748613 single base substitution A T intron_variant MELA-AU 2 228748668 228748668 single base substitution G A intron_variant MELA-AU 2 228748967 228748967 single base substitution G A intron_variant MELA-AU 2 228748981 228748981 single base substitution T A intron_variant MELA-AU 2 228749069 228749069 single base substitution T G intron_variant MELA-AU 2 228749340 228749340 single base substitution C T intron_variant MELA-AU 2 228749340 228749340 single base substitution C T upstream_gene_variant MELA-AU 2 228749417 228749417 single base substitution G A intron_variant MELA-AU 2 228749417 228749417 single base substitution G A upstream_gene_variant MELA-AU 2 228749479 228749479 single base substitution C T intron_variant MELA-AU 2 228749479 228749479 single base substitution C T upstream_gene_variant MELA-AU 2 228750067 228750067 single base substitution G A missense_variant G14E 41G>A MELA-AU 2 228750067 228750067 single base substitution G A splice_region_variant MELA-AU 2 228750067 228750067 single base substitution G A upstream_gene_variant MELA-AU 2 228750084 228750084 single base substitution G A exon_variant MELA-AU 2 228750084 228750084 single base substitution G A missense_variant E20K 58G>A MELA-AU 2 228750084 228750084 single base substitution G A missense_variant E5K 13G>A MELA-AU 2 228750084 228750084 single base substitution G A upstream_gene_variant MELA-AU 2 228750130 228750130 single base substitution T C 3_prime_UTR_variant MELA-AU 2 228750130 228750130 single base substitution T C missense_variant L20P 59T>C MELA-AU 2 228750130 228750130 single base substitution T C missense_variant L35P 104T>C MELA-AU 2 228750130 228750130 single base substitution T C upstream_gene_variant MELA-AU 2 228750156 228750156 single base substitution A C intron_variant MELA-AU 2 228750156 228750156 single base substitution A C upstream_gene_variant MELA-AU 2 228750575 228750575 single base substitution C T intron_variant MELA-AU 2 228750575 228750575 single base substitution C T upstream_gene_variant MELA-AU 2 228750761 228750761 single base substitution G A intron_variant MELA-AU 2 228750761 228750761 single base substitution G A upstream_gene_variant MELA-AU 2 228750781 228750781 single base substitution C T intron_variant MELA-AU 2 228750781 228750781 single base substitution C T upstream_gene_variant MELA-AU 2 228751023 228751023 single base substitution C T intron_variant MELA-AU 2 228751023 228751023 single base substitution C T upstream_gene_variant MELA-AU 2 228751055 228751055 single base substitution G A intron_variant MELA-AU 2 228751055 228751055 single base substitution G A upstream_gene_variant MELA-AU 2 228751110 228751110 single base substitution G A intron_variant MELA-AU 2 228751110 228751110 single base substitution G A upstream_gene_variant MELA-AU 2 228751154 228751154 single base substitution G A intron_variant MELA-AU 2 228751154 228751154 single base substitution G A upstream_gene_variant MELA-AU 2 228751207 228751207 single base substitution C T intron_variant MELA-AU 2 228751207 228751207 single base substitution C T upstream_gene_variant MELA-AU 2 228751455 228751455 single base substitution G A intron_variant MELA-AU 2 228751455 228751455 single base substitution G A upstream_gene_variant MELA-AU 2 228751680 228751680 single base substitution G A intron_variant MELA-AU 2 228751680 228751680 single base substitution G A upstream_gene_variant MELA-AU 2 228752265 228752265 single base substitution T A intron_variant MELA-AU 2 228752265 228752265 single base substitution T A upstream_gene_variant MELA-AU 2 228752409 228752409 single base substitution A G intron_variant MELA-AU 2 228752409 228752409 single base substitution A G upstream_gene_variant MELA-AU 2 228752452 228752452 single base substitution G A intron_variant MELA-AU 2 228752452 228752452 single base substitution G A upstream_gene_variant MELA-AU 2 228752670 228752670 single base substitution G A intron_variant MELA-AU 2 228752670 228752670 single base substitution G A upstream_gene_variant MELA-AU 2 228752673 228752673 single base substitution G A intron_variant MELA-AU 2 228752673 228752673 single base substitution G A upstream_gene_variant MELA-AU 2 228752943 228752943 single base substitution C T intron_variant MELA-AU 2 228752943 228752943 single base substitution C T upstream_gene_variant MELA-AU 2 228753170 228753170 single base substitution C T intron_variant MELA-AU 2 228753170 228753170 single base substitution C T upstream_gene_variant MELA-AU 2 228753186 228753186 single base substitution G A intron_variant MELA-AU 2 228753186 228753186 single base substitution G A upstream_gene_variant MELA-AU 2 228753480 228753480 single base substitution G A intron_variant MELA-AU 2 228753480 228753480 single base substitution G A upstream_gene_variant MELA-AU 2 228753510 228753510 single base substitution G A intron_variant MELA-AU 2 228753510 228753510 single base substitution G A upstream_gene_variant MELA-AU 2 228753692 228753692 single base substitution C T intron_variant MELA-AU 2 228753692 228753692 single base substitution C T upstream_gene_variant MELA-AU 2 228753728 228753728 single base substitution G A intron_variant MELA-AU 2 228753728 228753728 single base substitution G A upstream_gene_variant MELA-AU 2 228753909 228753909 single base substitution G A intron_variant MELA-AU 2 228753909 228753909 single base substitution G A upstream_gene_variant MELA-AU 2 228753972 228753972 single base substitution G A intron_variant MELA-AU 2 228753972 228753972 single base substitution G A upstream_gene_variant MELA-AU 2 228754161 228754161 single base substitution C T intron_variant MELA-AU 2 228754161 228754161 single base substitution C T upstream_gene_variant MELA-AU 2 228754169 228754169 single base substitution A T intron_variant MELA-AU 2 228754169 228754169 single base substitution A T upstream_gene_variant MELA-AU 2 228754776 228754776 deletion of <=200bp A - downstream_gene_variant MELA-AU 2 228754776 228754776 deletion of <=200bp A - intron_variant MELA-AU 2 228754935 228754935 single base substitution C T downstream_gene_variant MELA-AU 2 228754935 228754935 single base substitution C T intron_variant MELA-AU 2 228754940 228754940 single base substitution C T downstream_gene_variant MELA-AU 2 228754940 228754940 single base substitution C T intron_variant MELA-AU 2 228755016 228755016 single base substitution C T downstream_gene_variant MELA-AU 2 228755016 228755016 single base substitution C T intron_variant MELA-AU 2 228755235 228755235 single base substitution C T downstream_gene_variant MELA-AU 2 228755235 228755235 single base substitution C T intron_variant MELA-AU 2 228755254 228755254 single base substitution C T downstream_gene_variant MELA-AU 2 228755254 228755254 single base substitution C T intron_variant MELA-AU 2 228755273 228755273 single base substitution C T downstream_gene_variant MELA-AU 2 228755273 228755273 single base substitution C T intron_variant MELA-AU 2 228755406 228755406 single base substitution G A downstream_gene_variant MELA-AU 2 228755406 228755406 single base substitution G A intron_variant MELA-AU 2 228755718 228755718 single base substitution G A downstream_gene_variant MELA-AU 2 228755718 228755718 single base substitution G A intron_variant MELA-AU 2 228756131 228756131 single base substitution C T downstream_gene_variant MELA-AU 2 228756131 228756131 single base substitution C T intron_variant MELA-AU 2 228756620 228756620 single base substitution G A downstream_gene_variant MELA-AU 2 228756620 228756620 single base substitution G A intron_variant MELA-AU 2 228756638 228756638 single base substitution C T downstream_gene_variant MELA-AU 2 228756638 228756638 single base substitution C T intron_variant MELA-AU 2 228756653 228756653 single base substitution G A downstream_gene_variant MELA-AU 2 228756653 228756653 single base substitution G A intron_variant MELA-AU 2 228756658 228756658 single base substitution G A downstream_gene_variant MELA-AU 2 228756658 228756658 single base substitution G A intron_variant MELA-AU 2 228756675 228756675 single base substitution C T downstream_gene_variant MELA-AU 2 228756675 228756675 single base substitution C T intron_variant MELA-AU 2 228756797 228756797 single base substitution G A downstream_gene_variant MELA-AU 2 228756797 228756797 single base substitution G A intron_variant MELA-AU 2 228757048 228757048 single base substitution C T downstream_gene_variant MELA-AU 2 228757048 228757048 single base substitution C T intron_variant MELA-AU 2 228757192 228757192 single base substitution C T downstream_gene_variant MELA-AU 2 228757192 228757192 single base substitution C T intron_variant MELA-AU 2 228757576 228757576 single base substitution C T downstream_gene_variant MELA-AU 2 228757576 228757576 single base substitution C T intron_variant MELA-AU 2 228757909 228757909 single base substitution C T downstream_gene_variant MELA-AU 2 228757909 228757909 single base substitution C T intron_variant MELA-AU 2 228757940 228757940 single base substitution C T downstream_gene_variant MELA-AU 2 228757940 228757940 single base substitution C T intron_variant MELA-AU 2 228758480 228758480 single base substitution C T downstream_gene_variant MELA-AU 2 228758480 228758480 single base substitution C T intron_variant MELA-AU 2 228758500 228758500 single base substitution C T downstream_gene_variant MELA-AU 2 228758500 228758500 single base substitution C T intron_variant MELA-AU 2 228758545 228758545 single base substitution C T 3_prime_UTR_variant MELA-AU 2 228758545 228758545 single base substitution C T downstream_gene_variant MELA-AU 2 228758545 228758545 single base substitution C T exon_variant MELA-AU 2 228758545 228758545 single base substitution C T missense_variant L103F 307C>T MELA-AU 2 228758545 228758545 single base substitution C T missense_variant L118F 352C>T MELA-AU 2 228758798 228758798 single base substitution T C downstream_gene_variant MELA-AU 2 228758798 228758798 single base substitution T C intron_variant MELA-AU 2 228758935 228758935 single base substitution G A downstream_gene_variant MELA-AU 2 228758935 228758935 single base substitution G A intron_variant MELA-AU 2 228759000 228759000 single base substitution C T downstream_gene_variant MELA-AU 2 228759000 228759000 single base substitution C T intron_variant MELA-AU 2 228759472 228759472 single base substitution C T downstream_gene_variant MELA-AU 2 228759472 228759472 single base substitution C T intron_variant MELA-AU 2 228759536 228759536 single base substitution G A downstream_gene_variant MELA-AU 2 228759536 228759536 single base substitution G A intron_variant MELA-AU 2 228759544 228759544 single base substitution A G downstream_gene_variant MELA-AU 2 228759544 228759544 single base substitution A G intron_variant MELA-AU 2 228759834 228759834 single base substitution C T intron_variant MELA-AU 2 228759975 228759975 single base substitution G A intron_variant MELA-AU 2 228760036 228760036 single base substitution C T intron_variant MELA-AU 2 228760063 228760063 single base substitution C T intron_variant MELA-AU 2 228760329 228760329 single base substitution G A downstream_gene_variant MELA-AU 2 228760329 228760329 single base substitution G A intron_variant MELA-AU 2 228760461 228760461 single base substitution G A downstream_gene_variant MELA-AU 2 228760461 228760461 single base substitution G A intron_variant MELA-AU 2 228760895 228760895 single base substitution G A downstream_gene_variant MELA-AU 2 228760895 228760895 single base substitution G A intron_variant MELA-AU 2 228761448 228761448 single base substitution C T downstream_gene_variant MELA-AU 2 228761448 228761448 single base substitution C T intron_variant MELA-AU 2 228761457 228761457 single base substitution G A downstream_gene_variant MELA-AU 2 228761457 228761457 single base substitution G A intron_variant MELA-AU 2 228761580 228761580 single base substitution G A downstream_gene_variant MELA-AU 2 228761580 228761580 single base substitution G A intron_variant MELA-AU 2 228761592 228761592 single base substitution G T downstream_gene_variant MELA-AU 2 228761592 228761592 single base substitution G T intron_variant MELA-AU 2 228761656 228761656 single base substitution G C downstream_gene_variant MELA-AU 2 228761656 228761656 single base substitution G C intron_variant MELA-AU 2 228761712 228761712 single base substitution G A downstream_gene_variant MELA-AU 2 228761712 228761712 single base substitution G A intron_variant MELA-AU 2 228761871 228761871 single base substitution C T downstream_gene_variant MELA-AU 2 228761871 228761871 single base substitution C T intron_variant MELA-AU 2 228762623 228762623 single base substitution C T downstream_gene_variant MELA-AU 2 228762623 228762623 single base substitution C T intron_variant MELA-AU 2 228762868 228762868 single base substitution T A downstream_gene_variant MELA-AU 2 228762868 228762868 single base substitution T A intron_variant MELA-AU 2 228763263 228763263 single base substitution C T downstream_gene_variant MELA-AU 2 228763263 228763263 single base substitution C T intron_variant MELA-AU 2 228763287 228763287 single base substitution C T downstream_gene_variant MELA-AU 2 228763287 228763287 single base substitution C T intron_variant MELA-AU 2 228763425 228763425 single base substitution C T downstream_gene_variant MELA-AU 2 228763425 228763425 single base substitution C T intron_variant MELA-AU 2 228763426 228763426 single base substitution C T downstream_gene_variant MELA-AU 2 228763426 228763426 single base substitution C T intron_variant MELA-AU 2 228763458 228763458 single base substitution G A downstream_gene_variant MELA-AU 2 228763458 228763458 single base substitution G A intron_variant MELA-AU 2 228763550 228763550 single base substitution G A downstream_gene_variant MELA-AU 2 228763550 228763550 single base substitution G A intron_variant MELA-AU 2 228763712 228763712 single base substitution C T downstream_gene_variant MELA-AU 2 228763712 228763712 single base substitution C T intron_variant MELA-AU 2 228763847 228763847 single base substitution G A downstream_gene_variant MELA-AU 2 228763847 228763847 single base substitution G A intron_variant MELA-AU 2 228763928 228763928 single base substitution G A downstream_gene_variant MELA-AU 2 228763928 228763928 single base substitution G A intron_variant MELA-AU 2 228763946 228763946 single base substitution T C downstream_gene_variant MELA-AU 2 228763946 228763946 single base substitution T C intron_variant MELA-AU 2 228764313 228764313 single base substitution G A downstream_gene_variant MELA-AU 2 228764313 228764313 single base substitution G A intron_variant MELA-AU 2 228764423 228764423 single base substitution G A downstream_gene_variant MELA-AU 2 228764423 228764423 single base substitution G A intron_variant MELA-AU 2 228764703 228764703 single base substitution C T downstream_gene_variant MELA-AU 2 228764703 228764703 single base substitution C T intron_variant MELA-AU 2 228764718 228764718 single base substitution C T downstream_gene_variant MELA-AU 2 228764718 228764718 single base substitution C T intron_variant MELA-AU 2 228764845 228764845 single base substitution G A downstream_gene_variant MELA-AU 2 228764845 228764845 single base substitution G A intron_variant MELA-AU 2 228765039 228765039 single base substitution C G downstream_gene_variant MELA-AU 2 228765039 228765039 single base substitution C G intron_variant MELA-AU 2 228765077 228765077 single base substitution C T downstream_gene_variant MELA-AU 2 228765077 228765077 single base substitution C T intron_variant MELA-AU 2 228765287 228765287 single base substitution G A downstream_gene_variant MELA-AU 2 228765287 228765287 single base substitution G A intron_variant MELA-AU 2 228765310 228765310 single base substitution C T intron_variant MELA-AU 2 228765354 228765354 single base substitution G A intron_variant MELA-AU 2 228765571 228765571 single base substitution C T intron_variant MELA-AU 2 228765765 228765766 multiple base substitution (>=2bp and <=200bp) GA AC intron_variant MELA-AU 2 228766004 228766004 single base substitution A G intron_variant MELA-AU 2 228766245 228766245 single base substitution G A intron_variant MELA-AU 2 228766329 228766329 single base substitution G A intron_variant MELA-AU 2 228766485 228766485 single base substitution A T intron_variant MELA-AU 2 228766542 228766542 single base substitution G A intron_variant MELA-AU 2 228766596 228766596 single base substitution G A intron_variant MELA-AU 2 228766618 228766618 single base substitution C T intron_variant MELA-AU 2 228766634 228766634 single base substitution G A intron_variant MELA-AU 2 228766690 228766690 single base substitution G A intron_variant MELA-AU 2 228766710 228766710 single base substitution C T intron_variant MELA-AU 2 228766782 228766782 single base substitution G A intron_variant MELA-AU 2 228766972 228766972 single base substitution C T intron_variant MELA-AU 2 228766980 228766980 single base substitution G A intron_variant MELA-AU 2 228767004 228767004 single base substitution G A intron_variant MELA-AU 2 228767110 228767110 single base substitution G A intron_variant MELA-AU 2 228767125 228767125 single base substitution G A intron_variant MELA-AU 2 228767397 228767397 single base substitution G A intron_variant MELA-AU 2 228767431 228767431 single base substitution G A intron_variant MELA-AU 2 228767560 228767560 single base substitution G A intron_variant MELA-AU 2 228767728 228767728 single base substitution C T 3_prime_UTR_variant MELA-AU 2 228767728 228767728 single base substitution C T missense_variant S169L 506C>T MELA-AU 2 228767728 228767728 single base substitution C T missense_variant S184L 551C>T MELA-AU 2 228767808 228767808 single base substitution G A downstream_gene_variant MELA-AU 2 228767808 228767808 single base substitution G A missense_variant E196K 586G>A MELA-AU 2 228767808 228767808 single base substitution G A missense_variant E211K 631G>A MELA-AU 2 228767964 228767964 single base substitution C T downstream_gene_variant MELA-AU 2 228767964 228767964 single base substitution C T intron_variant MELA-AU 2 228768045 228768045 single base substitution A T downstream_gene_variant MELA-AU 2 228768045 228768045 single base substitution A T intron_variant MELA-AU 2 228768093 228768093 single base substitution G A downstream_gene_variant MELA-AU 2 228768093 228768093 single base substitution G A intron_variant MELA-AU 2 228768156 228768156 single base substitution C T downstream_gene_variant MELA-AU 2 228768156 228768156 single base substitution C T intron_variant MELA-AU 2 228768598 228768598 single base substitution A T downstream_gene_variant MELA-AU 2 228768598 228768598 single base substitution A T intron_variant MELA-AU 2 228768703 228768703 single base substitution C T downstream_gene_variant MELA-AU 2 228768703 228768703 single base substitution C T intron_variant MELA-AU 2 228768919 228768919 single base substitution C T downstream_gene_variant MELA-AU 2 228768919 228768919 single base substitution C T intron_variant MELA-AU 2 228769026 228769026 single base substitution G A downstream_gene_variant MELA-AU 2 228769026 228769026 single base substitution G A intron_variant MELA-AU 2 228769160 228769160 single base substitution G A downstream_gene_variant MELA-AU 2 228769160 228769160 single base substitution G A intron_variant MELA-AU 2 228769396 228769396 single base substitution T G downstream_gene_variant MELA-AU 2 228769396 228769396 single base substitution T G intron_variant MELA-AU 2 228769667 228769668 multiple base substitution (>=2bp and <=200bp) CC TT downstream_gene_variant MELA-AU 2 228769667 228769668 multiple base substitution (>=2bp and <=200bp) CC TT missense_variant S209F 626CC>TT MELA-AU 2 228769667 228769668 multiple base substitution (>=2bp and <=200bp) CC TT missense_variant S224F 671CC>TT MELA-AU 2 228769976 228769976 single base substitution G A downstream_gene_variant MELA-AU 2 228769976 228769976 single base substitution G A intron_variant MELA-AU 2 228770019 228770019 single base substitution T A downstream_gene_variant MELA-AU 2 228770019 228770019 single base substitution T A intron_variant MELA-AU 2 228770138 228770138 single base substitution A G downstream_gene_variant MELA-AU 2 228770138 228770138 single base substitution A G intron_variant MELA-AU 2 228770291 228770291 single base substitution G A downstream_gene_variant MELA-AU 2 228770291 228770291 single base substitution G A intron_variant MELA-AU 2 228770331 228770331 single base substitution G A downstream_gene_variant MELA-AU 2 228770331 228770331 single base substitution G A intron_variant MELA-AU 2 228770397 228770397 single base substitution G A downstream_gene_variant MELA-AU 2 228770397 228770397 single base substitution G A intron_variant MELA-AU 2 228770534 228770534 single base substitution G A downstream_gene_variant MELA-AU 2 228770534 228770534 single base substitution G A intron_variant MELA-AU 2 228770705 228770705 single base substitution C T downstream_gene_variant MELA-AU 2 228770705 228770705 single base substitution C T intron_variant MELA-AU 2 228770776 228770776 single base substitution G A downstream_gene_variant MELA-AU 2 228770776 228770776 single base substitution G A intron_variant MELA-AU 2 228771202 228771202 single base substitution C T downstream_gene_variant MELA-AU 2 228771202 228771202 single base substitution C T intron_variant MELA-AU 2 228771236 228771236 single base substitution G A downstream_gene_variant MELA-AU 2 228771236 228771236 single base substitution G A intron_variant MELA-AU 2 228771380 228771380 single base substitution C T downstream_gene_variant MELA-AU 2 228771380 228771380 single base substitution C T intron_variant MELA-AU 2 228771411 228771412 multiple base substitution (>=2bp and <=200bp) GG AA downstream_gene_variant MELA-AU 2 228771411 228771412 multiple base substitution (>=2bp and <=200bp) GG AA intron_variant MELA-AU 2 228771414 228771414 single base substitution T A downstream_gene_variant MELA-AU 2 228771414 228771414 single base substitution T A intron_variant MELA-AU 2 228771434 228771434 single base substitution G A downstream_gene_variant MELA-AU 2 228771434 228771434 single base substitution G A intron_variant MELA-AU 2 228771441 228771441 single base substitution C T downstream_gene_variant MELA-AU 2 228771441 228771441 single base substitution C T intron_variant MELA-AU 2 228771552 228771552 single base substitution C T downstream_gene_variant MELA-AU 2 228771552 228771552 single base substitution C T intron_variant MELA-AU 2 228771873 228771873 single base substitution G A downstream_gene_variant MELA-AU 2 228771873 228771873 single base substitution G A missense_variant G278E 833G>A MELA-AU 2 228771873 228771873 single base substitution G A missense_variant G293E 878G>A MELA-AU 2 228771905 228771905 single base substitution G A downstream_gene_variant MELA-AU 2 228771905 228771905 single base substitution G A missense_variant D289N 865G>A MELA-AU 2 228771905 228771905 single base substitution G A missense_variant D304N 910G>A MELA-AU 2 228772004 228772004 single base substitution G A downstream_gene_variant MELA-AU 2 228772004 228772004 single base substitution G A intron_variant MELA-AU 2 228772033 228772033 single base substitution A G downstream_gene_variant MELA-AU 2 228772033 228772033 single base substitution A G intron_variant MELA-AU 2 228772056 228772057 multiple base substitution (>=2bp and <=200bp) TT AG downstream_gene_variant MELA-AU 2 228772056 228772057 multiple base substitution (>=2bp and <=200bp) TT AG intron_variant MELA-AU 2 228772132 228772132 single base substitution C T downstream_gene_variant MELA-AU 2 228772132 228772132 single base substitution C T intron_variant MELA-AU 2 228772199 228772199 single base substitution G A downstream_gene_variant MELA-AU 2 228772199 228772199 single base substitution G A intron_variant MELA-AU 2 228772252 228772252 single base substitution C T downstream_gene_variant MELA-AU 2 228772252 228772252 single base substitution C T intron_variant MELA-AU 2 228772254 228772254 single base substitution C T downstream_gene_variant MELA-AU 2 228772254 228772254 single base substitution C T intron_variant MELA-AU 2 228772373 228772373 single base substitution C T downstream_gene_variant MELA-AU 2 228772373 228772373 single base substitution C T intron_variant MELA-AU 2 228772448 228772448 single base substitution G A downstream_gene_variant MELA-AU 2 228772448 228772448 single base substitution G A intron_variant MELA-AU 2 228772533 228772533 single base substitution G A downstream_gene_variant MELA-AU 2 228772533 228772533 single base substitution G A intron_variant MELA-AU 2 228772538 228772538 single base substitution A C downstream_gene_variant MELA-AU 2 228772538 228772538 single base substitution A C intron_variant MELA-AU 2 228772688 228772688 single base substitution G A downstream_gene_variant MELA-AU 2 228772688 228772688 single base substitution G A intron_variant MELA-AU 2 228772867 228772867 single base substitution G A intron_variant MELA-AU 2 228773403 228773403 single base substitution C T intron_variant MELA-AU 2 228773528 228773528 single base substitution G A intron_variant MELA-AU 2 228773755 228773755 single base substitution C T intron_variant MELA-AU 2 228773832 228773832 single base substitution C T intron_variant MELA-AU 2 228773986 228773986 single base substitution A G intron_variant MELA-AU 2 228773990 228773990 single base substitution G A intron_variant MELA-AU 2 228774486 228774486 single base substitution C T intron_variant MELA-AU 2 228774626 228774626 single base substitution G A intron_variant MELA-AU 2 228774845 228774845 single base substitution C T intron_variant MELA-AU 2 228774896 228774896 single base substitution G A intron_variant MELA-AU 2 228774925 228774925 single base substitution C T intron_variant MELA-AU 2 228775053 228775053 single base substitution G A intron_variant MELA-AU 2 228775092 228775092 single base substitution G A intron_variant MELA-AU 2 228775300 228775300 single base substitution G A intron_variant MELA-AU 2 228775332 228775332 single base substitution C T intron_variant MELA-AU 2 228775377 228775377 single base substitution C T intron_variant MELA-AU 2 228775558 228775558 single base substitution A T intron_variant MELA-AU 2 228775795 228775795 single base substitution C T intron_variant MELA-AU 2 228776047 228776047 single base substitution T C intron_variant MELA-AU 2 228776147 228776147 single base substitution G A intron_variant MELA-AU 2 228776188 228776188 single base substitution G A intron_variant MELA-AU 2 228776269 228776269 single base substitution T A intron_variant MELA-AU 2 228776328 228776328 single base substitution G A intron_variant MELA-AU 2 228776716 228776716 single base substitution C T intron_variant MELA-AU 2 228776781 228776781 single base substitution C T intron_variant MELA-AU 2 228776816 228776816 single base substitution C T intron_variant MELA-AU 2 228776931 228776931 single base substitution C T intron_variant MELA-AU 2 228777071 228777071 single base substitution C T intron_variant MELA-AU 2 228777071 228777071 single base substitution C T missense_variant P359S 1075C>T MELA-AU 2 228777367 228777367 single base substitution C T intron_variant MELA-AU 2 228777422 228777422 single base substitution C T intron_variant MELA-AU 2 228777611 228777611 single base substitution G A intron_variant MELA-AU 2 228777660 228777661 multiple base substitution (>=2bp and <=200bp) CC TT intron_variant MELA-AU 2 228777775 228777775 single base substitution C T intron_variant MELA-AU 2 228778015 228778015 single base substitution C T intron_variant MELA-AU 2 228778197 228778197 single base substitution G A intron_variant MELA-AU 2 228778212 228778212 single base substitution G A intron_variant MELA-AU 2 228778237 228778237 single base substitution T G intron_variant MELA-AU 2 228778623 228778623 single base substitution C T intron_variant MELA-AU 2 228778630 228778630 single base substitution T A intron_variant MELA-AU 2 228778650 228778650 single base substitution A T intron_variant MELA-AU 2 228778848 228778848 single base substitution G A intron_variant MELA-AU 2 228778854 228778854 single base substitution C T intron_variant MELA-AU 2 228778904 228778904 single base substitution G A intron_variant MELA-AU 2 228779290 228779290 single base substitution G A intron_variant MELA-AU 2 228779325 228779325 single base substitution C T intron_variant MELA-AU 2 228779343 228779343 single base substitution G A intron_variant MELA-AU 2 228779401 228779401 single base substitution C T intron_variant MELA-AU 2 228779567 228779567 single base substitution C T intron_variant MELA-AU 2 228779595 228779595 single base substitution C T intron_variant MELA-AU 2 228779619 228779619 single base substitution C T intron_variant MELA-AU 2 228779638 228779638 single base substitution C T intron_variant MELA-AU 2 228779707 228779707 single base substitution C T intron_variant MELA-AU 2 228779718 228779718 single base substitution A C intron_variant MELA-AU 2 228779826 228779826 single base substitution C T intron_variant MELA-AU 2 228779888 228779888 single base substitution G A intron_variant MELA-AU 2 228779938 228779938 single base substitution C T intron_variant MELA-AU 2 228779987 228779987 single base substitution C T intron_variant MELA-AU 2 228779996 228779996 single base substitution C T intron_variant MELA-AU 2 228780016 228780016 single base substitution G A intron_variant MELA-AU 2 228780023 228780023 single base substitution C T intron_variant MELA-AU 2 228780164 228780164 single base substitution C T intron_variant MELA-AU 2 228780399 228780399 single base substitution A T intron_variant MELA-AU 2 228780484 228780484 single base substitution G A intron_variant MELA-AU 2 228780506 228780506 single base substitution C T intron_variant MELA-AU 2 228780542 228780542 single base substitution T C intron_variant MELA-AU 2 228780544 228780544 single base substitution C T intron_variant MELA-AU 2 228780596 228780596 single base substitution G A intron_variant MELA-AU 2 228780609 228780609 single base substitution G A intron_variant MELA-AU 2 228780692 228780692 single base substitution T A intron_variant MELA-AU 2 228780997 228780997 single base substitution G A intron_variant MELA-AU 2 228781046 228781046 single base substitution C T intron_variant MELA-AU 2 228781074 228781074 single base substitution G A intron_variant MELA-AU 2 228781104 228781104 single base substitution G A intron_variant MELA-AU 2 228781117 228781117 single base substitution G A intron_variant MELA-AU 2 228781345 228781345 single base substitution C T intron_variant MELA-AU 2 228781439 228781439 single base substitution C T intron_variant MELA-AU 2 228781476 228781476 single base substitution G A intron_variant MELA-AU 2 228781533 228781533 single base substitution C T intron_variant MELA-AU 2 228781541 228781541 single base substitution G A intron_variant MELA-AU 2 228781548 228781548 single base substitution A T intron_variant MELA-AU 2 228781603 228781603 single base substitution C T intron_variant MELA-AU 2 228781679 228781679 single base substitution C T intron_variant MELA-AU 2 228781743 228781743 single base substitution C T intron_variant MELA-AU 2 228781898 228781898 single base substitution A G intron_variant MELA-AU 2 228781902 228781902 single base substitution A G intron_variant MELA-AU 2 228781920 228781920 single base substitution C T intron_variant MELA-AU 2 228782164 228782164 single base substitution G A intron_variant MELA-AU 2 228782198 228782198 single base substitution G A intron_variant MELA-AU 2 228782218 228782218 single base substitution C T intron_variant MELA-AU 2 228782276 228782276 single base substitution G A intron_variant MELA-AU 2 228782315 228782315 single base substitution A T intron_variant MELA-AU 2 228782450 228782450 single base substitution C T intron_variant MELA-AU 2 228782525 228782525 single base substitution G A intron_variant MELA-AU 2 228782680 228782680 single base substitution G A intron_variant MELA-AU 2 228782760 228782760 single base substitution C T intron_variant MELA-AU 2 228782796 228782796 single base substitution T A intron_variant MELA-AU 2 228782806 228782806 single base substitution G A intron_variant MELA-AU 2 228782853 228782853 single base substitution C T intron_variant MELA-AU 2 228782858 228782858 single base substitution G A intron_variant MELA-AU 2 228782916 228782916 single base substitution C T intron_variant MELA-AU 2 228783002 228783002 single base substitution G A intron_variant MELA-AU 2 228783380 228783380 single base substitution G A intron_variant MELA-AU 2 228783512 228783512 single base substitution C T 3_prime_UTR_variant MELA-AU 2 228783512 228783512 single base substitution C T synonymous_variant F315F 945C>T MELA-AU 2 228783512 228783512 single base substitution C T synonymous_variant F330F 990C>T MELA-AU 2 228783534 228783534 single base substitution A G 3_prime_UTR_variant MELA-AU 2 228783534 228783534 single base substitution A G missense_variant I323V 967A>G MELA-AU 2 228783534 228783534 single base substitution A G missense_variant I338V 1012A>G MELA-AU 2 228783561 228783561 single base substitution G A 3_prime_UTR_variant MELA-AU 2 228783561 228783561 single base substitution G A missense_variant E332K 994G>A MELA-AU 2 228783561 228783561 single base substitution G A missense_variant E347K 1039G>A MELA-AU 2 228783658 228783658 single base substitution C T intron_variant MELA-AU 2 228783674 228783674 single base substitution G A intron_variant MELA-AU 2 228783700 228783700 single base substitution C T intron_variant MELA-AU 2 228783877 228783877 single base substitution A C intron_variant MELA-AU 2 228783924 228783924 single base substitution A G intron_variant MELA-AU 2 228783968 228783968 single base substitution G A intron_variant MELA-AU 2 228784017 228784017 single base substitution C T intron_variant MELA-AU 2 228784194 228784194 single base substitution C T intron_variant MELA-AU 2 228784229 228784229 single base substitution G A intron_variant MELA-AU 2 228784297 228784297 single base substitution G A intron_variant MELA-AU 2 228784397 228784397 single base substitution C T intron_variant MELA-AU 2 228784507 228784507 single base substitution C T intron_variant MELA-AU 2 228784564 228784564 single base substitution G A intron_variant MELA-AU 2 228784687 228784687 single base substitution C T intron_variant MELA-AU 2 228784773 228784773 single base substitution G A intron_variant MELA-AU 2 228785127 228785127 single base substitution C T intron_variant MELA-AU 2 228785129 228785129 single base substitution C T intron_variant MELA-AU 2 228785150 228785150 single base substitution G A intron_variant MELA-AU 2 228785262 228785262 single base substitution G A intron_variant MELA-AU 2 228785322 228785322 single base substitution C T intron_variant MELA-AU 2 228785483 228785484 multiple base substitution (>=2bp and <=200bp) CC TA intron_variant MELA-AU 2 228785496 228785496 single base substitution G A intron_variant MELA-AU 2 228785592 228785592 single base substitution C T intron_variant MELA-AU 2 228785610 228785610 single base substitution G A intron_variant MELA-AU 2 228785911 228785911 single base substitution G A intron_variant MELA-AU 2 228785959 228785959 single base substitution G A intron_variant MELA-AU 2 228786070 228786070 single base substitution G A intron_variant MELA-AU 2 228786313 228786313 single base substitution C T intron_variant MELA-AU 2 228786444 228786444 single base substitution G A intron_variant MELA-AU 2 228786490 228786490 single base substitution G A intron_variant MELA-AU 2 228786796 228786796 single base substitution G A intron_variant MELA-AU 2 228786820 228786820 single base substitution G A intron_variant MELA-AU 2 228786852 228786852 single base substitution G A intron_variant MELA-AU 2 228786865 228786865 single base substitution T C intron_variant MELA-AU 2 228786958 228786958 single base substitution G A intron_variant MELA-AU 2 228787012 228787012 single base substitution G T intron_variant MELA-AU 2 228787043 228787043 single base substitution A G intron_variant MELA-AU 2 228787114 228787114 single base substitution G A intron_variant MELA-AU 2 228787170 228787170 single base substitution G A intron_variant MELA-AU 2 228787264 228787264 single base substitution C T intron_variant MELA-AU 2 228787394 228787394 single base substitution C T intron_variant MELA-AU 2 228787487 228787487 single base substitution G A intron_variant MELA-AU 2 228787580 228787580 single base substitution C T intron_variant MELA-AU 2 228787581 228787581 single base substitution C T intron_variant MELA-AU 2 228787627 228787627 single base substitution C T intron_variant MELA-AU 2 228787647 228787647 single base substitution G A intron_variant MELA-AU 2 228787665 228787665 single base substitution C T intron_variant MELA-AU 2 228787734 228787734 single base substitution A C intron_variant MELA-AU 2 228787831 228787831 single base substitution T G intron_variant MELA-AU 2 228787920 228787920 single base substitution G A intron_variant MELA-AU 2 228787979 228787979 single base substitution G A intron_variant MELA-AU 2 228788099 228788099 single base substitution G A intron_variant MELA-AU 2 228788264 228788264 single base substitution C T intron_variant MELA-AU 2 228788311 228788311 single base substitution C T intron_variant MELA-AU 2 228788376 228788376 single base substitution C T intron_variant MELA-AU 2 228788382 228788382 single base substitution C T intron_variant MELA-AU 2 228788458 228788458 single base substitution C T intron_variant MELA-AU 2 228788497 228788497 single base substitution G A intron_variant MELA-AU 2 228788528 228788528 single base substitution G A intron_variant MELA-AU 2 228788564 228788564 single base substitution G A intron_variant MELA-AU 2 228788679 228788679 single base substitution C T 3_prime_UTR_variant MELA-AU 2 228788679 228788679 single base substitution C T missense_variant R400C 1198C>T MELA-AU 2 228788679 228788679 single base substitution C T missense_variant R415C 1243C>T MELA-AU 2 228788691 228788691 single base substitution G A 3_prime_UTR_variant MELA-AU 2 228788846 228788846 single base substitution G A 3_prime_UTR_variant MELA-AU 2 228788846 228788846 single base substitution G A downstream_gene_variant MELA-AU 2 228788965 228788965 single base substitution G A 3_prime_UTR_variant MELA-AU 2 228788965 228788965 single base substitution G A downstream_gene_variant MELA-AU 2 228789453 228789453 single base substitution C T downstream_gene_variant MELA-AU 2 228789478 228789478 single base substitution G A downstream_gene_variant MELA-AU 2 228789497 228789497 single base substitution C T downstream_gene_variant MELA-AU 2 228789522 228789522 single base substitution C T downstream_gene_variant MELA-AU 2 228789578 228789578 single base substitution G A downstream_gene_variant MELA-AU 2 228789625 228789625 single base substitution G A downstream_gene_variant MELA-AU 2 228789680 228789680 single base substitution A T downstream_gene_variant MELA-AU 2 228789719 228789719 single base substitution C T downstream_gene_variant MELA-AU 2 228789853 228789853 single base substitution G A downstream_gene_variant MELA-AU 2 228789906 228789906 single base substitution C T downstream_gene_variant MELA-AU 2 228789936 228789936 single base substitution C T downstream_gene_variant MELA-AU 2 228789937 228789937 single base substitution C T downstream_gene_variant MELA-AU 2 228789966 228789966 single base substitution C T downstream_gene_variant MELA-AU 2 228789998 228789998 single base substitution C T downstream_gene_variant MELA-AU 2 228790153 228790153 single base substitution C T downstream_gene_variant MELA-AU 2 228790356 228790356 single base substitution G A downstream_gene_variant MELA-AU 2 228790380 228790380 single base substitution C T downstream_gene_variant MELA-AU 2 228790482 228790482 single base substitution G A downstream_gene_variant MELA-AU 2 228790519 228790519 single base substitution C T downstream_gene_variant MELA-AU 2 228790568 228790568 single base substitution T C downstream_gene_variant MELA-AU 2 228790627 228790627 single base substitution G A downstream_gene_variant MELA-AU 2 228790699 228790699 single base substitution G A downstream_gene_variant MELA-AU 2 228790715 228790715 single base substitution C T downstream_gene_variant MELA-AU 2 228790745 228790745 single base substitution A G downstream_gene_variant MELA-AU 2 228790794 228790794 single base substitution G A downstream_gene_variant MELA-AU 2 228790801 228790801 single base substitution G A downstream_gene_variant MELA-AU 2 228790814 228790814 single base substitution G A downstream_gene_variant MELA-AU 2 228791026 228791026 single base substitution C T downstream_gene_variant MELA-AU 2 228791053 228791053 single base substitution C T downstream_gene_variant MELA-AU 2 228791204 228791204 single base substitution C T downstream_gene_variant MELA-AU 2 228791212 228791212 single base substitution C T downstream_gene_variant MELA-AU 2 228791219 228791219 single base substitution C T downstream_gene_variant MELA-AU 2 228791227 228791227 single base substitution C T downstream_gene_variant MELA-AU 2 228791386 228791386 single base substitution G A downstream_gene_variant MELA-AU 2 228791509 228791509 single base substitution T G downstream_gene_variant MELA-AU 2 228791526 228791526 single base substitution C T downstream_gene_variant MELA-AU 2 228791534 228791534 single base substitution C T downstream_gene_variant MELA-AU 2 228791719 228791719 single base substitution C T downstream_gene_variant MELA-AU 2 228791737 228791737 single base substitution C T downstream_gene_variant MELA-AU 2 228791738 228791738 single base substitution C A downstream_gene_variant MELA-AU 2 228791749 228791749 single base substitution C T downstream_gene_variant MELA-AU 2 228791750 228791750 single base substitution C T downstream_gene_variant MELA-AU 2 228791754 228791754 single base substitution C T downstream_gene_variant MELA-AU 2 228791772 228791772 single base substitution C T downstream_gene_variant MELA-AU 2 228791839 228791839 single base substitution G A downstream_gene_variant MELA-AU 2 228791851 228791851 single base substitution C T downstream_gene_variant MELA-AU 2 228791976 228791976 single base substitution G A downstream_gene_variant MELA-AU 2 228792026 228792026 single base substitution G A downstream_gene_variant MELA-AU 2 228792234 228792234 single base substitution A G downstream_gene_variant MELA-AU 2 228792241 228792241 single base substitution G A downstream_gene_variant MELA-AU 2 228792256 228792256 single base substitution C T downstream_gene_variant MELA-AU 2 228792318 228792318 single base substitution C T downstream_gene_variant MELA-AU 2 228792332 228792332 single base substitution G A downstream_gene_variant MELA-AU 2 228792370 228792370 single base substitution C T downstream_gene_variant MELA-AU 2 228792375 228792375 single base substitution C T downstream_gene_variant MELA-AU 2 228792502 228792502 single base substitution C T downstream_gene_variant MELA-AU 2 228792530 228792530 single base substitution C T downstream_gene_variant MELA-AU 2 228792710 228792710 single base substitution C T downstream_gene_variant MELA-AU 2 228792887 228792887 single base substitution C T downstream_gene_variant MELA-AU 2 228793040 228793040 single base substitution C T downstream_gene_variant MELA-AU 2 228793051 228793051 single base substitution G A downstream_gene_variant MELA-AU 2 228793123 228793123 single base substitution G A downstream_gene_variant MELA-AU 2 228793151 228793151 single base substitution G A downstream_gene_variant MELA-AU 2 228793159 228793159 single base substitution G A downstream_gene_variant MELA-AU 2 228793177 228793177 single base substitution G A downstream_gene_variant MELA-AU 2 228793185 228793185 single base substitution G A downstream_gene_variant MELA-AU 2 228793229 228793229 single base substitution G A downstream_gene_variant MELA-AU 2 228793402 228793402 single base substitution G A downstream_gene_variant MELA-AU 2 228793548 228793548 single base substitution A C downstream_gene_variant MELA-AU 2 228793745 228793745 single base substitution C T downstream_gene_variant MELA-AU 2 228793843 228793843 single base substitution G A downstream_gene_variant MELA-AU 2 228793865 228793865 single base substitution C T downstream_gene_variant MELA-AU 2 228793886 228793886 single base substitution C T downstream_gene_variant MELA-AU 2 228793935 228793935 single base substitution A G downstream_gene_variant MELA-AU 2 228793977 228793977 single base substitution C T downstream_gene_variant MELA-AU 2 228793991 228793991 single base substitution C T downstream_gene_variant MELA-AU 2 228794031 228794031 single base substitution C T downstream_gene_variant ORCA-IN 2 228731309 228731310 deletion of <=200bp TT - upstream_gene_variant ORCA-IN 2 228738719 228738719 single base substitution T C intron_variant ORCA-IN 2 228752435 228752435 single base substitution C G intron_variant ORCA-IN 2 228752435 228752435 single base substitution C G upstream_gene_variant ORCA-IN 2 228761345 228761345 single base substitution T A downstream_gene_variant ORCA-IN 2 228761345 228761345 single base substitution T A intron_variant ORCA-IN 2 228769735 228769735 single base substitution G A downstream_gene_variant ORCA-IN 2 228769735 228769735 single base substitution G A missense_variant D232N 694G>A ORCA-IN 2 228769735 228769735 single base substitution G A missense_variant D247N 739G>A ORCA-IN 2 228788118 228788118 single base substitution C G intron_variant OV-AU 2 228737283 228737283 single base substitution C A intron_variant OV-AU 2 228737562 228737562 single base substitution C A intron_variant OV-AU 2 228738605 228738605 single base substitution C A intron_variant OV-AU 2 228739676 228739676 single base substitution C T intron_variant OV-AU 2 228742789 228742789 single base substitution T A intron_variant OV-AU 2 228751584 228751584 single base substitution G C intron_variant OV-AU 2 228751584 228751584 single base substitution G C upstream_gene_variant OV-AU 2 228753679 228753679 single base substitution G A intron_variant OV-AU 2 228753679 228753679 single base substitution G A upstream_gene_variant OV-AU 2 228755840 228755840 single base substitution A G downstream_gene_variant OV-AU 2 228755840 228755840 single base substitution A G intron_variant OV-AU 2 228757453 228757453 single base substitution G C downstream_gene_variant OV-AU 2 228757453 228757453 single base substitution G C intron_variant OV-AU 2 228759385 228759385 single base substitution C A downstream_gene_variant OV-AU 2 228759385 228759385 single base substitution C A intron_variant OV-AU 2 228759904 228759904 single base substitution T A intron_variant OV-AU 2 228761792 228761792 single base substitution A G downstream_gene_variant OV-AU 2 228761792 228761792 single base substitution A G intron_variant OV-AU 2 228761877 228761877 single base substitution C G downstream_gene_variant OV-AU 2 228761877 228761877 single base substitution C G intron_variant OV-AU 2 228762725 228762725 single base substitution A T downstream_gene_variant OV-AU 2 228762725 228762725 single base substitution A T intron_variant OV-AU 2 228764245 228764245 single base substitution T A downstream_gene_variant OV-AU 2 228764245 228764245 single base substitution T A intron_variant OV-AU 2 228766082 228766082 single base substitution T C intron_variant OV-AU 2 228768048 228768048 single base substitution C G downstream_gene_variant OV-AU 2 228768048 228768048 single base substitution C G intron_variant OV-AU 2 228769250 228769250 single base substitution T G downstream_gene_variant OV-AU 2 228769250 228769250 single base substitution T G intron_variant OV-AU 2 228769479 228769479 single base substitution C A downstream_gene_variant OV-AU 2 228769479 228769479 single base substitution C A intron_variant OV-AU 2 228769665 228769665 single base substitution C A downstream_gene_variant OV-AU 2 228769665 228769665 single base substitution C A synonymous_variant I208I 624C>A OV-AU 2 228769665 228769665 single base substitution C A synonymous_variant I223I 669C>A OV-AU 2 228778529 228778529 single base substitution C T intron_variant OV-AU 2 228778637 228778637 single base substitution A G intron_variant OV-AU 2 228779659 228779659 single base substitution C T intron_variant OV-AU 2 228781381 228781381 single base substitution G C intron_variant OV-AU 2 228784109 228784109 single base substitution C G intron_variant OV-AU 2 228784116 228784116 single base substitution C T intron_variant OV-AU 2 228784874 228784874 single base substitution A G intron_variant OV-AU 2 228787273 228787273 single base substitution G T intron_variant OV-AU 2 228790485 228790485 single base substitution G C downstream_gene_variant OV-AU 2 228790656 228790656 single base substitution C G downstream_gene_variant PACA-AU 2 228731587 228731587 single base substitution G T upstream_gene_variant PACA-AU 2 228736850 228736850 single base substitution T C intron_variant PACA-AU 2 228749834 228749834 single base substitution T G intron_variant PACA-AU 2 228749834 228749834 single base substitution T G upstream_gene_variant PACA-AU 2 228753593 228753593 insertion of <=200bp - T intron_variant PACA-AU 2 228753593 228753593 insertion of <=200bp - T upstream_gene_variant PACA-AU 2 228756053 228756053 single base substitution A C downstream_gene_variant PACA-AU 2 228756053 228756053 single base substitution A C intron_variant PACA-AU 2 228767804 228767804 single base substitution C T downstream_gene_variant PACA-AU 2 228767804 228767804 single base substitution C T synonymous_variant G194G 582C>T PACA-AU 2 228767804 228767804 single base substitution C T synonymous_variant G209G 627C>T PACA-AU 2 228769361 228769361 single base substitution A G downstream_gene_variant PACA-AU 2 228769361 228769361 single base substitution A G intron_variant PACA-AU 2 228769987 228769987 single base substitution G A downstream_gene_variant PACA-AU 2 228769987 228769987 single base substitution G A intron_variant PACA-AU 2 228772256 228772297 deletion of <=200bp CTGATTTTTATTATTATTATTATTTTGAGATGGAGTCTCACT - downstream_gene_variant PACA-AU 2 228772256 228772297 deletion of <=200bp CTGATTTTTATTATTATTATTATTTTGAGATGGAGTCTCACT - intron_variant PACA-AU 2 228772388 228772388 single base substitution C T downstream_gene_variant PACA-AU 2 228772388 228772388 single base substitution C T intron_variant PACA-AU 2 228773042 228773042 single base substitution C A intron_variant PACA-AU 2 228773994 228773994 single base substitution G A intron_variant PACA-AU 2 228775156 228775156 single base substitution C T intron_variant PACA-AU 2 228776794 228776794 single base substitution C T intron_variant PACA-AU 2 228778647 228778647 single base substitution A T intron_variant PACA-AU 2 228778653 228778653 single base substitution A T intron_variant PACA-AU 2 228782412 228782412 single base substitution C T intron_variant PACA-AU 2 228783543 228783543 single base substitution C G 3_prime_UTR_variant PACA-AU 2 228783543 228783543 single base substitution C G missense_variant L326V 976C>G PACA-AU 2 228783543 228783543 single base substitution C G missense_variant L341V 1021C>G PACA-AU 2 228783918 228783918 single base substitution A G intron_variant PACA-AU 2 228786263 228786263 single base substitution A G 3_prime_UTR_variant PACA-AU 2 228786263 228786263 single base substitution A G missense_variant N385S 1154A>G PACA-AU 2 228786263 228786263 single base substitution A G missense_variant N400S 1199A>G PACA-AU 2 228789120 228789120 single base substitution G A downstream_gene_variant PACA-AU 2 228791222 228791222 single base substitution G A downstream_gene_variant PACA-CA 2 228732027 228732027 single base substitution G C upstream_gene_variant PACA-CA 2 228735446 228735446 single base substitution A T upstream_gene_variant PACA-CA 2 228742023 228742023 single base substitution C T intron_variant PACA-CA 2 228747012 228747012 single base substitution C G intron_variant PACA-CA 2 228747158 228747158 insertion of <=200bp - A intron_variant PACA-CA 2 228748718 228748718 single base substitution C G intron_variant PACA-CA 2 228749328 228749328 single base substitution C T intron_variant PACA-CA 2 228749328 228749328 single base substitution C T upstream_gene_variant PACA-CA 2 228751333 228751333 single base substitution T A intron_variant PACA-CA 2 228751333 228751333 single base substitution T A upstream_gene_variant PACA-CA 2 228751593 228751593 single base substitution A T intron_variant PACA-CA 2 228751593 228751593 single base substitution A T upstream_gene_variant PACA-CA 2 228754263 228754263 single base substitution A G exon_variant PACA-CA 2 228754263 228754263 single base substitution A G intron_variant PACA-CA 2 228755655 228755656 deletion of <=200bp AT - downstream_gene_variant PACA-CA 2 228755655 228755656 deletion of <=200bp AT - intron_variant PACA-CA 2 228759097 228759097 single base substitution A C downstream_gene_variant PACA-CA 2 228759097 228759097 single base substitution A C intron_variant PACA-CA 2 228760209 228760209 single base substitution G A intron_variant PACA-CA 2 228763199 228763199 single base substitution G A downstream_gene_variant PACA-CA 2 228763199 228763199 single base substitution G A intron_variant PACA-CA 2 228764809 228764809 single base substitution T A downstream_gene_variant PACA-CA 2 228764809 228764809 single base substitution T A intron_variant PACA-CA 2 228764953 228764953 single base substitution A G downstream_gene_variant PACA-CA 2 228764953 228764953 single base substitution A G intron_variant PACA-CA 2 228768714 228768714 single base substitution T A downstream_gene_variant PACA-CA 2 228768714 228768714 single base substitution T A intron_variant PACA-CA 2 228771728 228771728 single base substitution C G downstream_gene_variant PACA-CA 2 228771728 228771728 single base substitution C G intron_variant PACA-CA 2 228774702 228774702 single base substitution C G intron_variant PACA-CA 2 228776046 228776051 deletion of <=200bp ATGTGT - intron_variant PACA-CA 2 228780620 228780620 single base substitution G A intron_variant PACA-CA 2 228780716 228780716 single base substitution A T intron_variant PACA-CA 2 228781866 228781866 single base substitution G A intron_variant PACA-CA 2 228783755 228783755 deletion of <=200bp A - intron_variant PACA-CA 2 228790263 228790263 single base substitution T C downstream_gene_variant PACA-CA 2 228790759 228790759 insertion of <=200bp - A downstream_gene_variant PACA-CA 2 228791428 228791428 single base substitution C T downstream_gene_variant PAEN-AU 2 228746060 228746060 single base substitution G C intron_variant PAEN-AU 2 228752895 228752895 single base substitution C T intron_variant PAEN-AU 2 228752895 228752895 single base substitution C T upstream_gene_variant PAEN-AU 2 228778657 228778657 single base substitution T A intron_variant PAEN-AU 2 228791709 228791709 single base substitution T C downstream_gene_variant PAEN-AU 2 228792921 228792921 single base substitution C T downstream_gene_variant PAEN-IT 2 228770007 228770007 single base substitution C T downstream_gene_variant PAEN-IT 2 228770007 228770007 single base substitution C T intron_variant PAEN-IT 2 228788583 228788583 single base substitution T G intron_variant PBCA-DE 2 228736973 228736973 single base substitution C T 5_prime_UTR_premature_start_codon_gain_variant PBCA-DE 2 228736973 228736973 single base substitution C T intron_variant PBCA-DE 2 228740249 228740249 single base substitution C T intron_variant PBCA-DE 2 228740983 228740983 single base substitution G A intron_variant PBCA-DE 2 228741250 228741250 single base substitution T A intron_variant PBCA-DE 2 228742434 228742434 single base substitution C A intron_variant PBCA-DE 2 228756674 228756674 single base substitution T G downstream_gene_variant PBCA-DE 2 228756674 228756674 single base substitution T G intron_variant PBCA-DE 2 228757006 228757006 single base substitution G A downstream_gene_variant PBCA-DE 2 228757006 228757006 single base substitution G A intron_variant PBCA-DE 2 228757142 228757142 single base substitution G A downstream_gene_variant PBCA-DE 2 228757142 228757142 single base substitution G A intron_variant PBCA-DE 2 228759354 228759354 single base substitution C T downstream_gene_variant PBCA-DE 2 228759354 228759354 single base substitution C T intron_variant PBCA-DE 2 228760172 228760172 single base substitution C A intron_variant PBCA-DE 2 228768673 228768673 single base substitution G T downstream_gene_variant PBCA-DE 2 228768673 228768673 single base substitution G T intron_variant PBCA-DE 2 228770615 228770615 single base substitution C T downstream_gene_variant PBCA-DE 2 228770615 228770615 single base substitution C T intron_variant PBCA-DE 2 228772819 228772819 single base substitution G A intron_variant PBCA-DE 2 228773982 228773982 single base substitution A G intron_variant PBCA-DE 2 228773990 228773990 single base substitution G A intron_variant PBCA-DE 2 228777981 228777981 single base substitution C T intron_variant PBCA-DE 2 228778617 228778617 single base substitution G A intron_variant PBCA-DE 2 228781854 228781854 single base substitution A G intron_variant PBCA-DE 2 228782858 228782858 single base substitution G A intron_variant PBCA-DE 2 228782880 228782880 deletion of <=200bp C - intron_variant PBCA-DE 2 228782888 228782888 insertion of <=200bp - C intron_variant PBCA-DE 2 228783154 228783154 single base substitution T A intron_variant PBCA-DE 2 228788273 228788273 single base substitution A G intron_variant PBCA-DE 2 228791871 228791871 single base substitution T C downstream_gene_variant PRAD-CA 2 228754709 228754709 single base substitution T G 3_prime_UTR_variant PRAD-CA 2 228754709 228754709 single base substitution T G exon_variant PRAD-CA 2 228754709 228754709 single base substitution T G missense_variant L69R 206T>G PRAD-CA 2 228754709 228754709 single base substitution T G missense_variant L84R 251T>G PRAD-CA 2 228776983 228776983 single base substitution C T intron_variant PRAD-CA 2 228776983 228776983 single base substitution C T synonymous_variant L329L 987C>T PRAD-CA 2 228777222 228777222 single base substitution T A intron_variant PRAD-CA 2 228778629 228778629 single base substitution G A intron_variant PRAD-CA 2 228783056 228783056 single base substitution T A intron_variant PRAD-CA 2 228790167 228790167 single base substitution C A downstream_gene_variant PRAD-UK 2 228738100 228738100 single base substitution C T intron_variant PRAD-UK 2 228751608 228751608 single base substitution G T intron_variant PRAD-UK 2 228751608 228751608 single base substitution G T upstream_gene_variant PRAD-UK 2 228773376 228773376 single base substitution A T intron_variant PRAD-UK 2 228791444 228791444 single base substitution A C downstream_gene_variant PRAD-US 2 228786194 228786194 single base substitution G A 3_prime_UTR_variant PRAD-US 2 228786194 228786194 single base substitution G A missense_variant G362D 1085G>A PRAD-US 2 228786194 228786194 single base substitution G A missense_variant G377D 1130G>A PRAD-US 2 228786221 228786221 single base substitution A C 3_prime_UTR_variant PRAD-US 2 228786221 228786221 single base substitution A C missense_variant H371P 1112A>C PRAD-US 2 228786221 228786221 single base substitution A C missense_variant H386P 1157A>C READ-US 2 228736445 228736445 single base substitution G A missense_variant G14R 40G>A READ-US 2 228736445 228736445 single base substitution G A splice_region_variant READ-US 2 228754634 228754634 single base substitution G A 3_prime_UTR_variant READ-US 2 228754634 228754634 single base substitution G A exon_variant READ-US 2 228754634 228754634 single base substitution G A missense_variant R44Q 131G>A READ-US 2 228754634 228754634 single base substitution G A missense_variant R59Q 176G>A READ-US 2 228756018 228756018 single base substitution A C 3_prime_UTR_variant READ-US 2 228756018 228756018 single base substitution A C downstream_gene_variant READ-US 2 228756018 228756018 single base substitution A C exon_variant READ-US 2 228756018 228756018 single base substitution A C missense_variant K102N 306A>C READ-US 2 228756018 228756018 single base substitution A C missense_variant K87N 261A>C READ-US 2 228769657 228769657 single base substitution G A downstream_gene_variant READ-US 2 228769657 228769657 single base substitution G A missense_variant E206K 616G>A READ-US 2 228769657 228769657 single base substitution G A missense_variant E221K 661G>A RECA-EU 2 228737324 228737324 single base substitution G A intron_variant RECA-EU 2 228742326 228742326 single base substitution A C intron_variant RECA-EU 2 228743280 228743280 single base substitution A G intron_variant RECA-EU 2 228747291 228747291 single base substitution T C intron_variant RECA-EU 2 228748507 228748507 single base substitution G A intron_variant RECA-EU 2 228748967 228748967 single base substitution G A intron_variant RECA-EU 2 228750901 228750901 single base substitution C A intron_variant RECA-EU 2 228750901 228750901 single base substitution C A upstream_gene_variant RECA-EU 2 228754293 228754293 single base substitution A T intron_variant RECA-EU 2 228775941 228775941 single base substitution T C intron_variant RECA-EU 2 228775943 228775943 single base substitution T C intron_variant RECA-EU 2 228779423 228779423 single base substitution T C intron_variant RECA-EU 2 228780184 228780184 single base substitution C T intron_variant RECA-EU 2 228781866 228781866 single base substitution G A intron_variant RECA-EU 2 228781870 228781870 single base substitution G A intron_variant RECA-EU 2 228782008 228782008 single base substitution G A intron_variant RECA-EU 2 228782799 228782799 single base substitution C T intron_variant SKCA-BR 2 228731235 228731235 single base substitution C T upstream_gene_variant SKCA-BR 2 228732473 228732473 single base substitution A G upstream_gene_variant SKCA-BR 2 228732531 228732531 single base substitution C T upstream_gene_variant SKCA-BR 2 228733207 228733207 single base substitution C T upstream_gene_variant SKCA-BR 2 228733732 228733732 single base substitution C T upstream_gene_variant SKCA-BR 2 228734576 228734576 single base substitution G A upstream_gene_variant SKCA-BR 2 228735949 228735949 single base substitution A C 5_prime_UTR_premature_start_codon_gain_variant SKCA-BR 2 228735949 228735949 single base substitution A C upstream_gene_variant SKCA-BR 2 228736463 228736463 single base substitution C T intron_variant SKCA-BR 2 228739679 228739679 insertion of <=200bp - AAAACAAACAAAC intron_variant SKCA-BR 2 228740195 228740195 single base substitution C T intron_variant SKCA-BR 2 228740494 228740494 single base substitution T C intron_variant SKCA-BR 2 228740971 228740971 single base substitution C T intron_variant SKCA-BR 2 228741297 228741297 single base substitution G C intron_variant SKCA-BR 2 228742133 228742133 single base substitution T G intron_variant SKCA-BR 2 228742257 228742257 single base substitution T A intron_variant SKCA-BR 2 228743133 228743133 single base substitution T A intron_variant SKCA-BR 2 228743695 228743695 single base substitution G A intron_variant SKCA-BR 2 228744448 228744448 single base substitution A G intron_variant SKCA-BR 2 228746167 228746167 single base substitution C G intron_variant SKCA-BR 2 228747303 228747303 single base substitution A C intron_variant SKCA-BR 2 228747449 228747449 single base substitution G A intron_variant SKCA-BR 2 228748317 228748317 single base substitution G A intron_variant SKCA-BR 2 228748944 228748944 single base substitution C T intron_variant SKCA-BR 2 228749498 228749498 single base substitution C T intron_variant SKCA-BR 2 228749498 228749498 single base substitution C T upstream_gene_variant SKCA-BR 2 228749569 228749569 single base substitution T G intron_variant SKCA-BR 2 228749569 228749569 single base substitution T G upstream_gene_variant SKCA-BR 2 228749891 228749891 single base substitution C T intron_variant SKCA-BR 2 228749891 228749891 single base substitution C T upstream_gene_variant SKCA-BR 2 228750691 228750691 insertion of <=200bp - CTT intron_variant SKCA-BR 2 228750691 228750691 insertion of <=200bp - CTT upstream_gene_variant SKCA-BR 2 228750752 228750752 single base substitution T C intron_variant SKCA-BR 2 228750752 228750752 single base substitution T C upstream_gene_variant SKCA-BR 2 228751668 228751668 single base substitution C A intron_variant SKCA-BR 2 228751668 228751668 single base substitution C A upstream_gene_variant SKCA-BR 2 228754943 228754943 single base substitution C T downstream_gene_variant SKCA-BR 2 228754943 228754943 single base substitution C T intron_variant SKCA-BR 2 228756353 228756353 single base substitution C T downstream_gene_variant SKCA-BR 2 228756353 228756353 single base substitution C T intron_variant SKCA-BR 2 228756853 228756853 insertion of <=200bp - ATTTT downstream_gene_variant SKCA-BR 2 228756853 228756853 insertion of <=200bp - ATTTT intron_variant SKCA-BR 2 228757805 228757805 single base substitution G A downstream_gene_variant SKCA-BR 2 228757805 228757805 single base substitution G A intron_variant SKCA-BR 2 228758456 228758456 single base substitution C A downstream_gene_variant SKCA-BR 2 228758456 228758456 single base substitution C A intron_variant SKCA-BR 2 228759049 228759049 single base substitution T C downstream_gene_variant SKCA-BR 2 228759049 228759049 single base substitution T C intron_variant SKCA-BR 2 228765016 228765016 single base substitution G A downstream_gene_variant SKCA-BR 2 228765016 228765016 single base substitution G A intron_variant SKCA-BR 2 228766643 228766643 single base substitution C T intron_variant SKCA-BR 2 228767547 228767547 single base substitution G A intron_variant SKCA-BR 2 228768217 228768217 single base substitution C T downstream_gene_variant SKCA-BR 2 228768217 228768217 single base substitution C T intron_variant SKCA-BR 2 228768780 228768780 single base substitution C T downstream_gene_variant SKCA-BR 2 228768780 228768780 single base substitution C T intron_variant SKCA-BR 2 228770460 228770460 single base substitution G A downstream_gene_variant SKCA-BR 2 228770460 228770460 single base substitution G A intron_variant SKCA-BR 2 228770540 228770540 single base substitution G C downstream_gene_variant SKCA-BR 2 228770540 228770540 single base substitution G C intron_variant SKCA-BR 2 228770593 228770593 single base substitution C T downstream_gene_variant SKCA-BR 2 228770593 228770593 single base substitution C T intron_variant SKCA-BR 2 228770594 228770594 single base substitution C T downstream_gene_variant SKCA-BR 2 228770594 228770594 single base substitution C T intron_variant SKCA-BR 2 228771755 228771755 single base substitution A C downstream_gene_variant SKCA-BR 2 228771755 228771755 single base substitution A C intron_variant SKCA-BR 2 228772928 228772928 single base substitution C T intron_variant SKCA-BR 2 228773183 228773183 single base substitution C T intron_variant SKCA-BR 2 228773918 228773918 single base substitution C T intron_variant SKCA-BR 2 228773986 228773986 insertion of <=200bp - ATCTATCTATCTATCTG intron_variant SKCA-BR 2 228773990 228773990 single base substitution G A intron_variant SKCA-BR 2 228774457 228774457 single base substitution G A intron_variant SKCA-BR 2 228774525 228774525 single base substitution G A intron_variant SKCA-BR 2 228776005 228776007 deletion of <=200bp CAT - intron_variant SKCA-BR 2 228776019 228776029 deletion of <=200bp TATGTATAAGC - intron_variant SKCA-BR 2 228776047 228776047 single base substitution T C intron_variant SKCA-BR 2 228777342 228777342 single base substitution C T intron_variant SKCA-BR 2 228778361 228778361 single base substitution C A intron_variant SKCA-BR 2 228778429 228778429 single base substitution C T intron_variant SKCA-BR 2 228778754 228778754 single base substitution C T intron_variant SKCA-BR 2 228778802 228778802 single base substitution A G intron_variant SKCA-BR 2 228778813 228778813 single base substitution A C intron_variant SKCA-BR 2 228779960 228779960 single base substitution G A intron_variant SKCA-BR 2 228780319 228780319 single base substitution C T intron_variant SKCA-BR 2 228780550 228780550 single base substitution C T intron_variant SKCA-BR 2 228780782 228780782 single base substitution C T intron_variant SKCA-BR 2 228781439 228781439 single base substitution C T intron_variant SKCA-BR 2 228781828 228781828 insertion of <=200bp - GTATC intron_variant SKCA-BR 2 228781858 228781858 single base substitution A G intron_variant SKCA-BR 2 228783785 228783785 single base substitution A C intron_variant SKCA-BR 2 228783922 228783925 deletion of <=200bp AAAG - intron_variant SKCA-BR 2 228783927 228783927 single base substitution A G intron_variant SKCA-BR 2 228785080 228785080 single base substitution G A intron_variant SKCA-BR 2 228785592 228785592 single base substitution C T intron_variant SKCA-BR 2 228786100 228786100 single base substitution C T intron_variant SKCA-BR 2 228786181 228786181 single base substitution G A 3_prime_UTR_variant SKCA-BR 2 228786181 228786181 single base substitution G A missense_variant D358N 1072G>A SKCA-BR 2 228786181 228786181 single base substitution G A missense_variant D373N 1117G>A SKCA-BR 2 228787205 228787205 single base substitution G A intron_variant SKCA-BR 2 228787666 228787666 single base substitution C T intron_variant SKCA-BR 2 228788311 228788311 single base substitution C T intron_variant SKCA-BR 2 228789057 228789057 single base substitution G A 3_prime_UTR_variant SKCA-BR 2 228789057 228789057 single base substitution G A downstream_gene_variant SKCA-BR 2 228789211 228789211 single base substitution C T downstream_gene_variant SKCA-BR 2 228789322 228789322 single base substitution G A downstream_gene_variant SKCA-BR 2 228789415 228789415 single base substitution G C downstream_gene_variant SKCA-BR 2 228789722 228789722 single base substitution G A downstream_gene_variant SKCA-BR 2 228790328 228790328 single base substitution G A downstream_gene_variant SKCA-BR 2 228790733 228790733 single base substitution G A downstream_gene_variant SKCA-BR 2 228791726 228791726 single base substitution A C downstream_gene_variant SKCA-BR 2 228791837 228791837 single base substitution G A downstream_gene_variant SKCA-BR 2 228791886 228791886 single base substitution G A downstream_gene_variant SKCA-BR 2 228791975 228791975 single base substitution G A downstream_gene_variant SKCA-BR 2 228791976 228791976 single base substitution G A downstream_gene_variant SKCA-BR 2 228792820 228792820 single base substitution A C downstream_gene_variant SKCA-BR 2 228793307 228793307 single base substitution G A downstream_gene_variant SKCA-BR 2 228793888 228793888 single base substitution C T downstream_gene_variant SKCM-US 2 228750084 228750084 single base substitution G A exon_variant SKCM-US 2 228750084 228750084 single base substitution G A missense_variant E20K 58G>A SKCM-US 2 228750084 228750084 single base substitution G A missense_variant E5K 13G>A SKCM-US 2 228750084 228750084 single base substitution G A upstream_gene_variant SKCM-US 2 228754594 228754594 single base substitution G A 3_prime_UTR_variant SKCM-US 2 228754594 228754594 single base substitution G A exon_variant SKCM-US 2 228754594 228754594 single base substitution G A missense_variant E31K 91G>A SKCM-US 2 228754594 228754594 single base substitution G A missense_variant E46K 136G>A SKCM-US 2 228754612 228754612 single base substitution G A 3_prime_UTR_variant SKCM-US 2 228754612 228754612 single base substitution G A exon_variant SKCM-US 2 228754612 228754612 single base substitution G A missense_variant E37K 109G>A SKCM-US 2 228754612 228754612 single base substitution G A missense_variant E52K 154G>A SKCM-US 2 228758521 228758521 single base substitution G A 3_prime_UTR_variant SKCM-US 2 228758521 228758521 single base substitution G A downstream_gene_variant SKCM-US 2 228758521 228758521 single base substitution G A exon_variant SKCM-US 2 228758521 228758521 single base substitution G A missense_variant G110R 328G>A SKCM-US 2 228758521 228758521 single base substitution G A missense_variant G95R 283G>A SKCM-US 2 228758545 228758545 single base substitution C T 3_prime_UTR_variant SKCM-US 2 228758545 228758545 single base substitution C T downstream_gene_variant SKCM-US 2 228758545 228758545 single base substitution C T exon_variant SKCM-US 2 228758545 228758545 single base substitution C T missense_variant L103F 307C>T SKCM-US 2 228758545 228758545 single base substitution C T missense_variant L118F 352C>T SKCM-US 2 228769694 228769694 single base substitution G A downstream_gene_variant SKCM-US 2 228769694 228769694 single base substitution G A missense_variant R218K 653G>A SKCM-US 2 228769694 228769694 single base substitution G A missense_variant R233K 698G>A SKCM-US 2 228771902 228771902 single base substitution G A downstream_gene_variant SKCM-US 2 228771902 228771902 single base substitution G A missense_variant D288N 862G>A SKCM-US 2 228771902 228771902 single base substitution G A missense_variant D303N 907G>A SKCM-US 2 228783512 228783512 single base substitution C T 3_prime_UTR_variant SKCM-US 2 228783512 228783512 single base substitution C T synonymous_variant F315F 945C>T SKCM-US 2 228783512 228783512 single base substitution C T synonymous_variant F330F 990C>T SKCM-US 2 228783561 228783561 single base substitution G A 3_prime_UTR_variant SKCM-US 2 228783561 228783561 single base substitution G A missense_variant E332K 994G>A SKCM-US 2 228783561 228783561 single base substitution G A missense_variant E347K 1039G>A SKCM-US 2 228783568 228783568 single base substitution C T 3_prime_UTR_variant SKCM-US 2 228783568 228783568 single base substitution C T missense_variant S334L 1001C>T SKCM-US 2 228783568 228783568 single base substitution C T missense_variant S349L 1046C>T SKCM-US 2 228786135 228786135 single base substitution G A 3_prime_UTR_variant SKCM-US 2 228786135 228786135 single base substitution G A synonymous_variant G342G 1026G>A SKCM-US 2 228786135 228786135 single base substitution G A synonymous_variant G357G 1071G>A SKCM-US 2 228786205 228786205 single base substitution C T 3_prime_UTR_variant SKCM-US 2 228786205 228786205 single base substitution C T stop_gained Q366* 1096C>T SKCM-US 2 228786205 228786205 single base substitution C T stop_gained Q381* 1141C>T SKCM-US 2 228786229 228786229 single base substitution G A 3_prime_UTR_variant SKCM-US 2 228786229 228786229 single base substitution G A missense_variant E374K 1120G>A SKCM-US 2 228786229 228786229 single base substitution G A missense_variant E389K 1165G>A STAD-US 2 228769686 228769686 single base substitution A C downstream_gene_variant STAD-US 2 228769686 228769686 single base substitution A C synonymous_variant S215S 645A>C STAD-US 2 228769686 228769686 single base substitution A C synonymous_variant S230S 690A>C STAD-US 2 228769707 228769707 single base substitution G A downstream_gene_variant STAD-US 2 228769707 228769707 single base substitution G A synonymous_variant G222G 666G>A STAD-US 2 228769707 228769707 single base substitution G A synonymous_variant G237G 711G>A STAD-US 2 228786191 228786191 single base substitution C T 3_prime_UTR_variant STAD-US 2 228786191 228786191 single base substitution C T missense_variant T361I 1082C>T STAD-US 2 228786191 228786191 single base substitution C T missense_variant T376I 1127C>T UCEC-US 2 228754597 228754597 single base substitution G T 3_prime_UTR_variant UCEC-US 2 228754597 228754597 single base substitution G T exon_variant UCEC-US 2 228754597 228754597 single base substitution G T stop_gained E32* 94G>T UCEC-US 2 228754597 228754597 single base substitution G T stop_gained E47* 139G>T UCEC-US 2 228754647 228754647 single base substitution C T 3_prime_UTR_variant UCEC-US 2 228754647 228754647 single base substitution C T exon_variant UCEC-US 2 228754647 228754647 single base substitution C T synonymous_variant V48V 144C>T UCEC-US 2 228754647 228754647 single base substitution C T synonymous_variant V63V 189C>T UCEC-US 2 228756017 228756017 single base substitution A C 3_prime_UTR_variant UCEC-US 2 228756017 228756017 single base substitution A C downstream_gene_variant UCEC-US 2 228756017 228756017 single base substitution A C exon_variant UCEC-US 2 228756017 228756017 single base substitution A C missense_variant K102T 305A>C UCEC-US 2 228756017 228756017 single base substitution A C missense_variant K87T 260A>C UCEC-US 2 228758594 228758594 single base substitution G T 3_prime_UTR_variant UCEC-US 2 228758594 228758594 single base substitution G T downstream_gene_variant UCEC-US 2 228758594 228758594 single base substitution G T exon_variant UCEC-US 2 228758594 228758594 single base substitution G T missense_variant R119M 356G>T UCEC-US 2 228758594 228758594 single base substitution G T missense_variant R134M 401G>T UCEC-US 2 228762980 228762980 single base substitution G A 3_prime_UTR_variant UCEC-US 2 228762980 228762980 single base substitution G A downstream_gene_variant UCEC-US 2 228762980 228762980 single base substitution G A missense_variant G160S 478G>A UCEC-US 2 228762980 228762980 single base substitution G A missense_variant G175S 523G>A UCEC-US 2 228767819 228767819 single base substitution C A downstream_gene_variant UCEC-US 2 228767819 228767819 single base substitution C A synonymous_variant T199T 597C>A UCEC-US 2 228767819 228767819 single base substitution C A synonymous_variant T214T 642C>A UCEC-US 2 228769694 228769694 single base substitution G T downstream_gene_variant UCEC-US 2 228769694 228769694 single base substitution G T missense_variant R218I 653G>T UCEC-US 2 228769694 228769694 single base substitution G T missense_variant R233I 698G>T UCEC-US 2 228783505 228783505 single base substitution G T 3_prime_UTR_variant UCEC-US 2 228783505 228783505 single base substitution G T missense_variant R313I 938G>T UCEC-US 2 228783505 228783505 single base substitution G T missense_variant R328I 983G>T UCEC-US 2 228786166 228786166 single base substitution A C 3_prime_UTR_variant UCEC-US 2 228786166 228786166 single base substitution A C missense_variant T353P 1057A>C UCEC-US 2 228786166 228786166 single base substitution A C missense_variant T368P 1102A>C UCEC-US 2 228786257 228786257 single base substitution A C 3_prime_UTR_variant UCEC-US 2 228786257 228786257 single base substitution A C missense_variant K383T 1148A>C UCEC-US 2 228786257 228786257 single base substitution A C missense_variant K398T 1193A>C

Mutation - COSMIC Sample Name Mutation ID Mutation CDS Mutation AA Mutation Description Mutation Genome Position Mutation Strand TCGA-AO-A0JM-01 COSM442428 c.660C>T p.A220A Substitution - coding silent 2:227904940-227904940 + TCGA-DV-5566-01 COSM3364624 c.338A>C p.D113A Substitution - Missense 2:227893815-227893815 + TCGA-D3-A3ML-06 COSM210283 c.1071G>A p.G357G Substitution - coding silent 2:227921419-227921419 + TCGA-CD-5801-01 COSM4092121 c.690A>C p.S230S Substitution - coding silent 2:227904970-227904970 + CRC-06T COSM5456945 c.175C>T p.R59* Substitution - Nonsense 2:227889917-227889917 + TCGA-AO-A12E-01 COSM3838771 c.721C>T p.H241Y Substitution - Missense 2:227905001-227905001 + YUKAT COSM5396412 c.318-1G>A p.? Unknown 2:227893794-227893794 + LS411 COSM3047543 c.48G>A p.M16I Substitution - Missense 2:227885358-227885358 + TCGA-AG-A02X-01 COSM265475 c.727G>A p.V243I Substitution - Missense 2:227905007-227905007 + TCGA-FR-A69P-06 COSM3578554 c.1039G>A p.E347K Substitution - Missense 2:227918845-227918845 + TCGA-CJ-5679-01 COSM477021 c.120T>A p.D40E Substitution - Missense 2:227889862-227889862 + TCGA-AA-A010-01 COSM286517 c.983G>T p.R328I Substitution - Missense 2:227918789-227918789 + TCGA-18-3416-01 COSM393565 c.759G>T p.K253N Substitution - Missense 2:227906239-227906239 + 1_RESISTANT COSM1720984 c.943G>A p.G315R Substitution - Missense 2:227907222-227907222 + BD124T COSM5491593 c.858+1G>A p.? Unknown 2:227906339-227906339 + CSCC-44-T COSM4544517 c.358G>A p.D120N Substitution - Missense 2:227893835-227893835 + HCC058T COSM5805245 c.1151A>T p.E384V Substitution - Missense 2:227921499-227921499 + 8015423 COSM1158784 c.1199A>G p.N400S Substitution - Missense 2:227921547-227921547 + TCGA-EK-A2RA-01 COSM4848270 c.1059C>T p.F353F Substitution - coding silent 2:227921407-227921407 + 1_PRE-TREATMENT COSM1720984 c.943G>A p.G315R Substitution - Missense 2:227907222-227907222 + S01366 COSM316547 c.441-1G>T p.? Unknown 2:227898181-227898181 + ICGC_0019 COSM1158784 c.1199A>G p.N400S Substitution - Missense 2:227921547-227921547 + TCGA-F5-6814-01 COSM3426162 c.306A>C p.K102N Substitution - Missense 2:227891302-227891302 + PD12803a COSM3769925 c.472A>T p.T158S Substitution - Missense 2:227898213-227898213 + pfg053T COSM4764754 c.850A>T p.T284S Substitution - Missense 2:227906330-227906330 + SCC-25 COSM3047570 c.1123_1124delCA p.Q375fs*9 Deletion - Frameshift 2:227921471-227921472 + Au9 COSM5607668 c.768C>T p.I256I Substitution - coding silent 2:227906248-227906248 + TCGA-AK-3447-01 COSM1494804 c.487A>T p.S163C Substitution - Missense 2:227898228-227898228 + LS180 COSM3047568 c.994G>T p.A332S Substitution - Missense 2:227918800-227918800 + TCGA-AG-3892-01 COSM258367 c.1004G>T p.R335I Substitution - Missense 2:227918810-227918810 + RK125_C01 COSM3702144 c.904C>A p.H302N Substitution - Missense 2:227907183-227907183 + ICGC_0061 COSM1159485 c.1021C>G p.L341V Substitution - Missense 2:227918827-227918827 + HN_00076 COSM130208 c.661G>A p.E221K Substitution - Missense 2:227904941-227904941 + 8031668 COSM3391553 c.627C>T p.G209G Substitution - coding silent 2:227903088-227903088 + YUKLAB COSM1692070 c.535G>A p.E179K Substitution - Missense 2:227898276-227898276 + S02285 COSM5684742 c.406G>A p.V136M Substitution - Missense 2:227893883-227893883 + T2269 COSM286517 c.983G>T p.R328I Substitution - Missense 2:227918789-227918789 + BN50 COSM1614477 c.461C>A p.S154Y Substitution - Missense 2:227898202-227898202 + TCGA-AK-3458-01 COSM477022 c.541-1G>T p.? Unknown 2:227903001-227903001 + TCGA-AX-A0J1-01 COSM1017416 c.189C>T p.V63V Substitution - coding silent 2:227889931-227889931 + HCC2998 COSM130208 c.661G>A p.E221K Substitution - Missense 2:227904941-227904941 + CSCC-29-T COSM4466728 c.144C>T p.I48I Substitution - coding silent 2:227889886-227889886 + TCGA-DV-5574-01 COSM3364623 c.136G>T p.E46* Substitution - Nonsense 2:227889878-227889878 + TCGA-BR-8680-01 COSM4092122 c.711G>A p.G237G Substitution - coding silent 2:227904991-227904991 + PD6409a COSM5799824 c.187G>T p.V63F Substitution - Missense 2:227889929-227889929 + M14 COSM1669827 c.971A>G p.D324G Substitution - Missense 2:227907250-227907250 + LUAD-B00859 COSM391056 c.704_709delTCACGG p.I235_G237>R Complex - deletion inframe 2:227904984-227904989 + TCGA-AX-A05Z-01 COSM1017419 c.523G>A p.G175S Substitution - Missense 2:227898264-227898264 + ESO-0149 COSM1270418 c.58_59insA p.H22fs*7 Insertion - Frameshift 2:227885368-227885369 + TCGA-EE-A2GC-06 COSM3578553 c.990C>T p.F330F Substitution - coding silent 2:227918796-227918796 + WA37 COSM238435 c.801C>G p.A267A Substitution - coding silent 2:227906281-227906281 + TCGA-EE-A29E-06 COSM3578552 c.907G>A p.D303N Substitution - Missense 2:227907186-227907186 + HCC1395 COSM32728 c.386C>T p.T129M Substitution - Missense 2:227893863-227893863 + TCGA-EE-A2GO-06 COSM3578555 c.1046C>T p.S349L Substitution - Missense 2:227918852-227918852 + BK0044 COSM4187649 c.384C>A p.N128K Substitution - Missense 2:227893861-227893861 + TCGA-FS-A1ZE-06 COSM3578548 c.136G>A p.E46K Substitution - Missense 2:227889878-227889878 + 1N62-VS-1T62 COSM130208 c.661G>A p.E221K Substitution - Missense 2:227904941-227904941 + HCC2998 COSM130208 c.661G>A p.E221K Substitution - Missense 2:227904941-227904941 + TCGA-D1-A16X-01 COSM1017423 c.1193A>C p.K398T Substitution - Missense 2:227921541-227921541 + TCGA-GN-A266-06 COSM3578551 c.698G>A p.R233K Substitution - Missense 2:227904978-227904978 + 2492709 COSM5717082 c.551C>T p.S184L Substitution - Missense 2:227903012-227903012 + TCGA-EI-6917-01 COSM130208 c.661G>A p.E221K Substitution - Missense 2:227904941-227904941 + 045T COSM1720984 c.943G>A p.G315R Substitution - Missense 2:227907222-227907222 + TCGA-AD-6895-01 COSM1406003 c.396C>T p.G132G Substitution - coding silent 2:227893873-227893873 + TCGA-CM-5864-01 COSM1405999 c.128C>T p.A43V Substitution - Missense 2:227889870-227889870 + TCGA-09-1674-01 COSM1326368 c.702C>A p.I234I Substitution - coding silent 2:227904982-227904982 + TCGA-EE-A29L-06 COSM3578550 c.352C>T p.L118F Substitution - Missense 2:227893829-227893829 + TCGA-AG-A002-01 COSM264695 c.329G>T p.G110V Substitution - Missense 2:227893806-227893806 + 19M COSM5579982 c.614A>G p.D205G Substitution - Missense 2:227903075-227903075 + TCGA-ER-A199-06 COSM3578547 c.58G>A p.E20K Substitution - Missense 2:227885368-227885368 + S02375 COSM5696575 c.881A>G p.K294R Substitution - Missense 2:227907160-227907160 + 8030032 COSM1159485 c.1021C>G p.L341V Substitution - Missense 2:227918827-227918827 + TCGA-UB-A7MB-01 COSM4932799 c.534A>T p.A178A Substitution - coding silent 2:227898275-227898275 + LS174T COSM3047568 c.994G>T p.A332S Substitution - Missense 2:227918800-227918800 + T3064 COSM4741058 c.1104G>A p.T368T Substitution - coding silent 2:227921452-227921452 + 2275_T COSM3962475 c.736T>A p.W246R Substitution - Missense 2:227905016-227905016 + HT115 COSM3047552 c.409G>A p.V137I Substitution - Missense 2:227893886-227893886 + S01366 COSM316547 c.441-1G>T p.? Unknown 2:227898181-227898181 + CSCC-11-T COSM3578553 c.990C>T p.F330F Substitution - coding silent 2:227918796-227918796 + CSCC-31-T COSM4450954 c.974-1G>A p.? Unknown 2:227918779-227918779 + TCGA-FW-A3R5-06 COSM3909751 c.154G>A p.E52K Substitution - Missense 2:227889896-227889896 + TCGA-FW-A3R5-06 COSM1692072 c.1165G>A p.E389K Substitution - Missense 2:227921513-227921513 + 2492710 COSM5717082 c.551C>T p.S184L Substitution - Missense 2:227903012-227903012 + HCC60T COSM1614477 c.461C>A p.S154Y Substitution - Missense 2:227898202-227898202 + TCGA-AP-A056-01 COSM1017415 c.139G>T p.E47* Substitution - Nonsense 2:227889881-227889881 + S02299 COSM5690512 c.612G>T p.W204C Substitution - Missense 2:227903073-227903073 + BN50T COSM1614477 c.461C>A p.S154Y Substitution - Missense 2:227898202-227898202 + PD24336a COSM5791090 c.312C>T p.G104G Substitution - coding silent 2:227891308-227891308 + TCGA-E1-5322-01 COSM3972052 c.78G>C p.K26N Substitution - Missense 2:227885388-227885388 + LAU63 COSM233763 c.814G>A p.D272N Substitution - Missense 2:227906294-227906294 + BD124T COSM3047538 c.20T>C p.L7P Substitution - Missense 2:227871709-227871709 + TCGA-EB-A3Y6-01 COSM3578549 c.328G>A p.G110R Substitution - Missense 2:227893805-227893805 + TCGA-AP-A051-01 COSM1017415 c.139G>T p.E47* Substitution - Nonsense 2:227889881-227889881 + TCGA-EI-6917-01 COSM174922 c.176G>A p.R59Q Substitution - Missense 2:227889918-227889918 + TCGA-AX-A0J1-01 COSM1017418 c.401G>T p.R134M Substitution - Missense 2:227893878-227893878 + TCGA-A6-6140-01 COSM3758006 c.361A>T p.T121S Substitution - Missense 2:227893838-227893838 + TCGA-F5-6814-01 COSM3426161 c.40G>A p.G14R Substitution - Missense 2:227871729-227871729 + C086 COSM5541726 c.839C>T p.S280F Substitution - Missense 2:227906319-227906319 + TCGA-BH-A0B6-01 COSM3838770 c.562C>T p.Q188* Substitution - Nonsense 2:227903023-227903023 + B60 COSM1752402 c.519C>T p.F173F Substitution - coding silent 2:227898260-227898260 + OSCC-GB_00410111 COSM3713632 c.739G>A p.D247N Substitution - Missense 2:227905019-227905019 + Pat_66_A COSM5861947 c.709G>A p.G237R Substitution - Missense 2:227904989-227904989 + cSCCP6 COSM136306 c.326C>T p.T109I Substitution - Missense 2:227893803-227893803 + TCGA-D1-A17Q-01 COSM1017417 c.305A>C p.K102T Substitution - Missense 2:227891301-227891301 + T17 COSM3758006 c.361A>T p.T121S Substitution - Missense 2:227893838-227893838 + T3446 COSM4741057 c.920T>C p.L307P Substitution - Missense 2:227907199-227907199 + 2164 COSM5011034 c.1178G>C p.C393S Substitution - Missense 2:227921526-227921526 + 3N21-VS-3T21 COSM4979373 c.527A>G p.H176R Substitution - Missense 2:227898268-227898268 + MDA-MB-435 COSM1669827 c.971A>G p.D324G Substitution - Missense 2:227907250-227907250 + CSCC-31-T COSM4455428 c.76A>G p.K26E Substitution - Missense 2:227885386-227885386 + TCGA-BT-A20R-01 COSM1306503 c.970G>C p.D324H Substitution - Missense 2:227907249-227907249 + TCGA-CF-A1HS-01 COSM418839 c.179C>T p.T60I Substitution - Missense 2:227889921-227889921 + B34-Tumor COSM1752401 c.184C>T p.Q62* Substitution - Nonsense 2:227889926-227889926 + TCGA-AM-5820-01 COSM3758006 c.361A>T p.T121S Substitution - Missense 2:227893838-227893838 + TCGA-EE-A2GN-06 COSM3578554 c.1039G>A p.E347K Substitution - Missense 2:227918845-227918845 + TCGA-EB-A24D-01 COSM1692072 c.1165G>A p.E389K Substitution - Missense 2:227921513-227921513 + CSCC-10-T COSM4554806 c.631G>A p.E211K Substitution - Missense 2:227903092-227903092 + LUAD-D02085 COSM363347 c.365C>G p.A122G Substitution - Missense 2:227893842-227893842 + AOCS-130-1-0 COSM4128184 c.669C>A p.I223I Substitution - coding silent 2:227904949-227904949 + TCGA-B5-A11E-01 COSM286517 c.983G>T p.R328I Substitution - Missense 2:227918789-227918789 + TCGA-AG-3898-01 COSM258733 c.422C>A p.A141E Substitution - Missense 2:227893899-227893899 + LAU618 COSM233764 c.1004G>A p.R335K Substitution - Missense 2:227918810-227918810 + YUKAT COSM32728 c.386C>T p.T129M Substitution - Missense 2:227893863-227893863 + TCGA-AX-A0J0-01 COSM1017421 c.698G>T p.R233I Substitution - Missense 2:227904978-227904978 + STC252 COSM5058720 c.223G>A p.G75S Substitution - Missense 2:227889965-227889965 + D22 COSM5007402 c.309G>A p.S103S Substitution - coding silent 2:227891305-227891305 + TCGA-G9-7523-01 COSM1471254 c.1157A>C p.H386P Substitution - Missense 2:227921505-227921505 + Pat_41_B COSM5861946 c.86C>T p.S29F Substitution - Missense 2:227885396-227885396 + PD6365a COSM1637252 c.114-2A>C p.? Unknown 2:227889854-227889854 + HCC60 COSM1614477 c.461C>A p.S154Y Substitution - Missense 2:227898202-227898202 + TCGA-AA-3663-01 COSM1406004 c.794G>A p.S265N Substitution - Missense 2:227906274-227906274 + TCGA-D1-A15X-01 COSM1017420 c.642C>A p.T214T Substitution - coding silent 2:227903103-227903103 + TCGA-DA-A1HY-06 COSM1692071 c.1141C>T p.Q381* Substitution - Nonsense 2:227921489-227921489 + B34 COSM1752401 c.184C>T p.Q62* Substitution - Nonsense 2:227889926-227889926 + 2492708 COSM5717082 c.551C>T p.S184L Substitution - Missense 2:227903012-227903012 + BD135T COSM5516250 c.840T>C p.S280S Substitution - coding silent 2:227906320-227906320 + RK209_C01 COSM1631880 c.504A>G p.K168K Substitution - coding silent 2:227898245-227898245 + TCGA-39-5019-01 COSM720410 c.769T>A p.L257I Substitution - Missense 2:227906249-227906249 + CSCC-62-T COSM4451190 c.1100A>C p.K367T Substitution - Missense 2:227921448-227921448 + CSCC-55-T COSM4555306 c.649G>A p.G217R Substitution - Missense 2:227904929-227904929 + TCGA-18-3409-01 COSM720409 c.1150G>A p.E384K Substitution - Missense 2:227921498-227921498 + 1N40-VS-1T40 COSM4975367 c.160C>G p.L54V Substitution - Missense 2:227889902-227889902 + B60-Tumor COSM1752402 c.519C>T p.F173F Substitution - coding silent 2:227898260-227898260 + TCGA-CD-A4MJ-01 COSM4092123 c.1127C>T p.T376I Substitution - Missense 2:227921475-227921475 + 49M COSM5593975 c.718G>A p.D240N Substitution - Missense 2:227904998-227904998 + PT48 COSM5931187 c.68G>A p.G23E Substitution - Missense 2:227885378-227885378 + GC_343T-GC_343N_a COSM4772357 c.819C>T p.C273C Substitution - coding silent 2:227906299-227906299 + TCGA-HC-8216-01 COSM3673630 c.1130G>A p.G377D Substitution - Missense 2:227921478-227921478 + TCGA-GV-A3QI-01 COSM1306502 c.365C>T p.A122V Substitution - Missense 2:227893842-227893842 + TCGA-D8-A1JG-01 COSM1482825 c.1196G>A p.G399D Substitution - Missense 2:227921544-227921544 + ESCC-154T COSM3938967 c.345G>A p.T115T Substitution - coding silent 2:227893822-227893822 + LUAD-E00934 COSM393565 c.759G>T p.K253N Substitution - Missense 2:227906239-227906239 + YUKLAB COSM1692071 c.1141C>T p.Q381* Substitution - Nonsense 2:227921489-227921489 + 41T COSM3713632 c.739G>A p.D247N Substitution - Missense 2:227905019-227905019 + MDA-N COSM1669827 c.971A>G p.D324G Substitution - Missense 2:227907250-227907250 + TCGA-CA-6717-01 COSM1406001 c.276A>C p.I92I Substitution - coding silent 2:227891272-227891272 + YUWAND COSM1692072 c.1165G>A p.E389K Substitution - Missense 2:227921513-227921513 + CPCG0371-F1 COSM4966341 c.251T>G p.L84R Substitution - Missense 2:227889993-227889993 + T2269 COSM174922 c.176G>A p.R59Q Substitution - Missense 2:227889918-227889918 + T164 COSM307592 c.1000A>C p.T334P Substitution - Missense 2:227918806-227918806 + SC_9092 COSM5561511 c.36G>A p.P12P Substitution - coding silent 2:227871725-227871725 + TCGA-AX-A05Z-01 COSM1017422 c.1102A>C p.T368P Substitution - Missense 2:227921450-227921450 + TCGA-AZ-4315-01 COSM1406000 c.198G>T p.L66F Substitution - Missense 2:227889940-227889940 +

Mutation - CGAP UNIGENE CYTOBAND OMIM SNP Hs.424594 2q36.3

Mutation - IntOGen Mutated from(ref) Mutated to(alt) Consequence Type AA Mutation CDS Mutation Chr Pos Cancer A C Missense p.D113A c.338A>C 2 228758531 RCCC A C Missense p.H386P c.1157A>C 2 228786221 PRAD A C Synonymous p.S230S c.690A>C 2 228769686 STAD - A Frameshift p.H22Tfs*7 c.63dupA 2 228750085 ESCA A G Missense p.N400S c.1199A>G 2 228786263 PAAD - A IntronicInsertion . c.113+235dupA 2 228750368 CM A T Missense p.E165V c.494A>T 2 228762951 CM A T Synonymous p.G14G c.42A>T 2 228750068 LUAD A T Synonymous p.L307L c.921A>T 2 228771916 LUAD C A Missense p.A141E c.422C>A 2 228758615 COREAD C A Synonymous p.I390I c.1170C>A 2 228786234 HNSC C G Missense p.L341V c.1021C>G 2 228783543 PAAD C T IntronicSNV . c.1051-1270C>T 2 228784845 CLL C T Missense p.A122V c.365C>T 2 228758558 BLCA C T Missense p.H176Y c.526C>T 2 228762983 LUAD C T Missense p.L118F c.352C>T 2 228758545 CM C T Missense p.P145L c.434C>T 2 228758627 CM C T Missense p.S349L c.1046C>T 2 228783568 CM C T Missense p.T60I c.179C>T 2 228754637 BLCA C T Nonsense p.Q375* c.1123C>T 2 228786187 LUAD C T Nonsense p.Q381* c.1141C>T 2 228786205 CM C T Synonymous p.A220A c.660C>T 2 228769656 BRCA C T Synonymous p.F330F c.990C>T 2 228783512 CM C T Synonymous p.F353F c.1059C>T 2 228786123 CM C T Synonymous p.I222I c.666C>T 2 228769662 CM G A 3-UTRSNV . c.1245+10G>A 2 228788691 CM G A Missense p.D408N c.1222G>A 2 228788658 CM G A Missense p.E20K c.58G>A 2 228750084 CM G A Missense p.E221K c.661G>A 2 228769657 HNSC G A Missense p.E347K c.1039G>A 2 228783561 CM G A Missense p.E389K c.1165G>A 2 228786229 CM G A Missense p.E46K c.136G>A 2 228754594 CM G A Missense p.G377D c.1130G>A 2 228786194 PRAD G A Missense p.G399D c.1196G>A 2 228786260 BRCA G A Missense p.V243I c.727G>A 2 228769723 COREAD G A Synonymous p.G357G c.1071G>A 2 228786135 CM G C Missense p.D324H c.970G>C 2 228771965 BLCA G C Missense p.K26N c.78G>C 2 228750104 LGG G T Missense p.D408Y c.1222G>T 2 228788658 STAD G T Missense p.K253N c.759G>T 2 228770955 LUSC G T Missense p.R174S c.522G>T 2 228762979 LUAD G T Nonsense p.E46* c.136G>T 2 228754594 RCCC G T SpliceAcceptorSNV . c.441-1G>T 2 228762897 SCLC T A Missense p.D40E c.120T>A 2 228754578 RCCC T A Missense p.L257I c.769T>A 2 228770965 LUSC T G IntronicSNV . c.114-2159T>G 2 228752413 HC T G Synonymous p.P145P c.435T>G 2 228758628 LUAD