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 1 22852723 22852723 + Missense_Mutation SNP C C T TCGA-OR-A5LB-01A-11D-A29I-10 TCGA-OR-A5LB-10A-01D-A29L-10 g.chr1:22852723C>T c.3554C>T c.(3553-3555)cCg>cTg p.P1185L BLCA 1 22816495 22816495 + Silent SNP C C T TCGA-BT-A3PK-01A-21D-A21Z-08 TCGA-BT-A3PK-10A-01D-A21Z-08 g.chr1:22816495C>T c.54C>T c.(52-54)tgC>tgT p.C18C BLCA 1 22816672 22816672 + Missense_Mutation SNP G G A TCGA-E7-A7XN-01A-11D-A34U-08 TCGA-E7-A7XN-10A-01D-A34X-08 g.chr1:22816672G>A c.231G>A c.(229-231)atG>atA p.M77I BLCA 1 22817053 22817053 + Silent SNP G G A TCGA-XF-AAMR-01A-31D-A42E-08 TCGA-XF-AAMR-10A-01D-A42H-08 g.chr1:22817053G>A c.612G>A c.(610-612)gcG>gcA p.A204A BLCA 1 22817119 22817119 + Missense_Mutation SNP G G C TCGA-ZF-AA53-01A-11D-A391-08 TCGA-ZF-AA53-10A-01D-A394-08 g.chr1:22817119G>C c.678G>C c.(676-678)aaG>aaC p.K226N BLCA 1 22817960 22817960 + Silent SNP C C G TCGA-G2-AA3B-01A-11D-A391-08 TCGA-G2-AA3B-10A-01D-A394-08 g.chr1:22817960C>G c.765C>G c.(763-765)ctC>ctG p.L255L BLCA 1 22828002 22828002 + Silent SNP C C T TCGA-DK-A6AW-01A-11D-A30E-08 TCGA-DK-A6AW-10A-01D-A30H-08 g.chr1:22828002C>T c.849C>T c.(847-849)ttC>ttT p.F283F BLCA 1 22828017 22828017 + Silent SNP A A G TCGA-ZF-AA4R-01A-11D-A38G-08 TCGA-ZF-AA4R-10A-01D-A38J-08 g.chr1:22828017A>G c.864A>G c.(862-864)ggA>ggG p.G288G BLCA 1 22828057 22828057 + Missense_Mutation SNP G G A TCGA-ZF-AA54-01A-11D-A391-08 TCGA-ZF-AA54-10A-01D-A394-08 g.chr1:22828057G>A c.904G>A c.(904-906)Gaa>Aaa p.E302K BLCA 1 22828819 22828819 + Missense_Mutation SNP C C G TCGA-DK-A1A5-01A-11D-A13W-08 TCGA-DK-A1A5-10A-01D-A13W-08 g.chr1:22828819C>G c.1052C>G c.(1051-1053)tCt>tGt p.S351C BLCA 1 22828850 22828850 + Silent SNP G G C TCGA-G2-AA3D-01A-11D-A391-08 TCGA-G2-AA3D-10A-01D-A394-08 g.chr1:22828850G>C c.1083G>C c.(1081-1083)ctG>ctC p.L361L BLCA 1 22828866 22828866 + Nonsense_Mutation SNP C C T TCGA-DK-A1A5-01A-11D-A13W-08 TCGA-DK-A1A5-10A-01D-A13W-08 g.chr1:22828866C>T c.1099C>T c.(1099-1101)Cag>Tag p.Q367* BLCA 1 22832611 22832611 + Missense_Mutation SNP G G A TCGA-DK-A3WW-01A-22D-A23M-08 TCGA-DK-A3WW-10A-01D-A23K-08 g.chr1:22832611G>A c.1237G>A c.(1237-1239)Gaa>Aaa p.E413K BLCA 1 22835057 22835057 + Missense_Mutation SNP C C T TCGA-DK-AA75-01A-11D-A391-08 TCGA-DK-AA75-10A-01D-A394-08 g.chr1:22835057C>T c.1532C>T c.(1531-1533)tCa>tTa p.S511L BLCA 1 22837705 22837705 + Missense_Mutation SNP G G A TCGA-GD-A6C6-01A-21D-A31L-08 TCGA-GD-A6C6-10A-01D-A31J-08 g.chr1:22837705G>A c.1867G>A c.(1867-1869)Gaa>Aaa p.E623K BLCA 1 22838486 22838486 + Missense_Mutation SNP A A T TCGA-GD-A3OS-01A-12D-A21Z-08 TCGA-GD-A3OS-10A-01D-A21Z-08 g.chr1:22838486A>T c.2320A>T c.(2320-2322)Acc>Tcc p.T774S BLCA 1 22839532 22839532 + Silent SNP C C T TCGA-FD-A5BZ-01A-11D-A289-08 TCGA-FD-A5BZ-10A-01D-A289-08 g.chr1:22839532C>T c.2577C>T c.(2575-2577)acC>acT p.T859T BLCA 1 22846690 22846690 + Silent SNP G G A TCGA-DK-A6AV-01A-12D-A30E-08 TCGA-DK-A6AV-10A-01D-A30H-08 g.chr1:22846690G>A c.2970G>A c.(2968-2970)ccG>ccA p.P990P BLCA 1 22846725 22846725 + Missense_Mutation SNP G G C TCGA-MV-A51V-01A-11D-A26M-08 TCGA-MV-A51V-10A-01D-A26K-08 g.chr1:22846725G>C c.3005G>C c.(3004-3006)gGa>gCa p.G1002A BLCA 1 22852749 22852749 + Missense_Mutation SNP G G C TCGA-G2-A3VY-01A-11D-A22Z-08 TCGA-G2-A3VY-10A-01D-A22Z-08 g.chr1:22852749G>C c.3580G>C c.(3580-3582)Gag>Cag p.E1194Q BRCA 1 22816815 22816815 + Missense_Mutation SNP T T G TCGA-A8-A0A6-01A-12W-A071-09 TCGA-A8-A0A6-10A-01W-A071-09 g.chr1:22816815T>G c.374T>G c.(373-375)gTg>gGg p.V125G BRCA 1 22828833 22828833 + Nonsense_Mutation SNP G G T TCGA-EW-A1OV-01A-11D-A142-09 TCGA-EW-A1OV-10A-01D-A142-09 g.chr1:22828833G>T c.1066G>T c.(1066-1068)Gaa>Taa p.E356* BRCA 1 22835081 22835081 + Nonsense_Mutation SNP C C G TCGA-BH-A18Q-01A-12D-A12B-09 TCGA-BH-A18Q-11A-34D-A12B-09 g.chr1:22835081C>G c.1556C>G c.(1555-1557)tCa>tGa p.S519* BRCA 1 22835660 22835660 + Silent SNP C C A TCGA-E9-A1RI-01A-11D-A167-09 TCGA-E9-A1RI-10A-01D-A167-09 g.chr1:22835660C>A c.1767C>A c.(1765-1767)atC>atA p.I589I BRCA 1 22835712 22835712 + Missense_Mutation SNP G G A TCGA-AC-A2B8-01A-11D-A17D-09 TCGA-AC-A2B8-10A-01D-A17D-09 g.chr1:22835712G>A c.1819G>A c.(1819-1821)Gag>Aag p.E607K BRCA 1 22838211 22838211 + Missense_Mutation SNP T T G TCGA-A8-A0A6-01A-12W-A071-09 TCGA-A8-A0A6-10A-01W-A071-09 g.chr1:22838211T>G c.2045T>G c.(2044-2046)gTg>gGg p.V682G BRCA 1 22839544 22839544 + Silent SNP G G A TCGA-AN-A0AK-01A-21W-A019-09 TCGA-AN-A0AK-10A-01W-A021-09 g.chr1:22839544G>A c.2589G>A c.(2587-2589)ccG>ccA p.P863P BRCA 1 22839582 22839582 + Missense_Mutation SNP C C T TCGA-C8-A12U-01A-11D-A10Y-09 TCGA-C8-A12U-10A-01D-A110-09 g.chr1:22839582C>T c.2627C>T c.(2626-2628)gCc>gTc p.A876V BRCA 1 22848143 22848143 + Frame_Shift_Del DEL A A - TCGA-GM-A3NW-01A-21D-A228-09 TCGA-GM-A3NW-10A-01D-A22A-09 g.chr1:22848143delA c.3203delA c.(3202-3204)gaafs p.E1068fs BRCA 1 22852823 22852823 + Silent SNP C C T TCGA-LL-A5YP-01A-21D-A28B-09 TCGA-LL-A5YP-10A-01D-A28E-09 g.chr1:22852823C>T c.3654C>T c.(3652-3654)ctC>ctT p.L1218L CESC 1 22817950 22817950 + Nonsense_Mutation SNP C C G TCGA-IR-A3LH-01A-21D-A20U-09 TCGA-IR-A3LH-10A-01D-A20U-09 g.chr1:22817950C>G c.755C>G c.(754-756)tCa>tGa p.S252* CESC 1 22817988 22817988 + Missense_Mutation SNP C C G TCGA-IR-A3LI-01A-11D-A20U-09 TCGA-IR-A3LI-10A-01D-A20U-09 g.chr1:22817988C>G c.793C>G c.(793-795)Cta>Gta p.L265V CESC 1 22835630 22835630 + Silent SNP G G C TCGA-Q1-A73O-01A-11D-A32I-09 TCGA-Q1-A73O-10B-01D-A32I-09 g.chr1:22835630G>C c.1737G>C c.(1735-1737)ctG>ctC p.L579L CESC 1 22848902 22848902 + Missense_Mutation SNP G G C TCGA-C5-A7CH-01A-11D-A33O-09 TCGA-C5-A7CH-10A-01D-A33O-09 g.chr1:22848902G>C c.3244G>C c.(3244-3246)Gag>Cag p.E1082Q CESC 1 22850819 22850819 + Missense_Mutation SNP C C T TCGA-EK-A3GJ-01A-21D-A20U-09 TCGA-EK-A3GJ-11A-11D-A20U-09 g.chr1:22850819C>T c.3407C>T c.(3406-3408)cCc>cTc p.P1136L COAD 1 22818023 22818023 + Silent SNP G G A TCGA-CA-6717-01A-11D-1835-10 TCGA-CA-6717-10A-01D-1835-10 g.chr1:22818023G>A c.828G>A c.(826-828)aaG>aaA p.K276K COAD 1 22828002 22828002 + Silent SNP C C T TCGA-AA-3977-01A-01W-0995-10 TCGA-AA-3977-10A-01W-0999-10 g.chr1:22828002C>T c.849C>T c.(847-849)ttC>ttT p.F283F COAD 1 22828008 22828008 + Silent SNP T T C TCGA-AA-3695-01A-01W-0900-09 TCGA-AA-3695-10A-01W-0900-09 g.chr1:22828008T>C c.855T>C c.(853-855)ggT>ggC p.G285G COAD 1 22835072 22835072 + Missense_Mutation SNP C C A TCGA-AA-3977-01A-01W-0995-10 TCGA-AA-3977-10A-01W-0999-10 g.chr1:22835072C>A c.1547C>A c.(1546-1548)tCt>tAt p.S516Y COAD 1 22835101 22835102 + Frame_Shift_Ins INS - - CT TCGA-A6-5665-01A-01D-1650-10 TCGA-A6-5665-10A-01D-1650-10 g.chr1:22835101_22835102insCT c.1576_1577insCT c.(1576-1578)actfs p.T526fs COAD 1 22835147 22835147 + Missense_Mutation SNP A A G TCGA-G4-6588-01A-11D-1771-10 TCGA-G4-6588-10A-01D-1771-10 g.chr1:22835147A>G c.1622A>G c.(1621-1623)gAg>gGg p.E541G COAD 1 22838556 22838556 + Frame_Shift_Del DEL C C - TCGA-G4-6628-01A-11D-1835-10 TCGA-G4-6628-10A-01D-1835-10 g.chr1:22838556delC c.2390delC c.(2389-2391)gccfs p.A797fs COAD 1 22838609 22838609 + Missense_Mutation SNP G G A TCGA-AA-A00N-01A-02W-A00E-09 TCGA-AA-A00N-10A-01W-A00E-09 g.chr1:22838609G>A c.2443G>A c.(2443-2445)Gaa>Aaa p.E815K COAD 1 22839587 22839587 + Missense_Mutation SNP G G A TCGA-CM-6171-01A-11D-1650-10 TCGA-CM-6171-10A-01D-1650-10 g.chr1:22839587G>A c.2632G>A c.(2632-2634)Gcc>Acc p.A878T COAD 1 22843791 22843791 + Splice_Site SNP A A G TCGA-AY-6197-01A-11D-1719-10 TCGA-AY-6197-10A-01D-1719-10 g.chr1:22843791A>G c.e13-1 COAD 1 22846665 22846665 + Missense_Mutation SNP C C T TCGA-AA-3814-01A-01W-0900-09 TCGA-AA-3814-10A-01W-0900-09 g.chr1:22846665C>T c.2945C>T c.(2944-2946)aCg>aTg p.T982M COAD 1 22846715 22846715 + Missense_Mutation SNP A A G TCGA-AA-3950-01A-02W-0995-10 TCGA-AA-3950-10A-01W-0995-10 g.chr1:22846715A>G c.2995A>G c.(2995-2997)Acc>Gcc p.T999A COAD 1 22848044 22848044 + Missense_Mutation SNP C C A TCGA-G4-6586-01A-11D-1771-10 TCGA-G4-6586-10A-01D-1771-10 g.chr1:22848044C>A c.3104C>A c.(3103-3105)gCt>gAt p.A1035D COAD 1 22852881 22852881 + Missense_Mutation SNP G G A TCGA-G4-6588-01A-11D-1771-10 TCGA-G4-6588-10A-01D-1771-10 g.chr1:22852881G>A c.3712G>A c.(3712-3714)Gcc>Acc p.A1238T COADREAD 1 22816775 22816775 + Missense_Mutation SNP C C A TCGA-AG-A002-01A-01W-A00K-09 TCGA-AG-A002-10A-01W-A00K-09 g.chr1:22816775C>A c.334C>A c.(334-336)Ctt>Att p.L112I COADREAD 1 22818023 22818023 + Silent SNP G G A TCGA-CA-6717-01A-11D-1835-10 TCGA-CA-6717-10A-01D-1835-10 g.chr1:22818023G>A c.828G>A c.(826-828)aaG>aaA p.K276K COADREAD 1 22828002 22828002 + Silent SNP C C T TCGA-AA-3977-01A-01W-0995-10 TCGA-AA-3977-10A-01W-0999-10 g.chr1:22828002C>T c.849C>T c.(847-849)ttC>ttT p.F283F COADREAD 1 22828008 22828008 + Silent SNP T T C TCGA-AA-3695-01A-01W-0900-09 TCGA-AA-3695-10A-01W-0900-09 g.chr1:22828008T>C c.855T>C c.(853-855)ggT>ggC p.G285G COADREAD 1 22835072 22835072 + Missense_Mutation SNP C C A TCGA-AA-3977-01A-01W-0995-10 TCGA-AA-3977-10A-01W-0999-10 g.chr1:22835072C>A c.1547C>A c.(1546-1548)tCt>tAt p.S516Y COADREAD 1 22835101 22835102 + Frame_Shift_Ins INS - - CT TCGA-A6-5665-01A-01D-1650-10 TCGA-A6-5665-10A-01D-1650-10 g.chr1:22835101_22835102insCT c.1576_1577insCT c.(1576-1578)actfs p.T526fs COADREAD 1 22835147 22835147 + Missense_Mutation SNP A A G TCGA-G4-6588-01A-11D-1771-10 TCGA-G4-6588-10A-01D-1771-10 g.chr1:22835147A>G c.1622A>G c.(1621-1623)gAg>gGg p.E541G COADREAD 1 22838556 22838556 + Frame_Shift_Del DEL C C - TCGA-G4-6628-01A-11D-1835-10 TCGA-G4-6628-10A-01D-1835-10 g.chr1:22838556delC c.2390delC c.(2389-2391)gccfs p.A797fs COADREAD 1 22838609 22838609 + Missense_Mutation SNP G G A TCGA-AA-A00N-01A-02W-A00E-09 TCGA-AA-A00N-10A-01W-A00E-09 g.chr1:22838609G>A c.2443G>A c.(2443-2445)Gaa>Aaa p.E815K COADREAD 1 22839587 22839587 + Missense_Mutation SNP G G A TCGA-CM-6171-01A-11D-1650-10 TCGA-CM-6171-10A-01D-1650-10 g.chr1:22839587G>A c.2632G>A c.(2632-2634)Gcc>Acc p.A878T COADREAD 1 22843791 22843791 + Splice_Site SNP A A G TCGA-AY-6197-01A-11D-1719-10 TCGA-AY-6197-10A-01D-1719-10 g.chr1:22843791A>G c.e13-1 COADREAD 1 22846665 22846665 + Missense_Mutation SNP C C T TCGA-AA-3814-01A-01W-0900-09 TCGA-AA-3814-10A-01W-0900-09 g.chr1:22846665C>T c.2945C>T c.(2944-2946)aCg>aTg p.T982M COADREAD 1 22846715 22846715 + Missense_Mutation SNP A A G TCGA-AA-3950-01A-02W-0995-10 TCGA-AA-3950-10A-01W-0995-10 g.chr1:22846715A>G c.2995A>G c.(2995-2997)Acc>Gcc p.T999A COADREAD 1 22848044 22848044 + Missense_Mutation SNP C C A TCGA-G4-6586-01A-11D-1771-10 TCGA-G4-6586-10A-01D-1771-10 g.chr1:22848044C>A c.3104C>A c.(3103-3105)gCt>gAt p.A1035D COADREAD 1 22852881 22852881 + Missense_Mutation SNP G G A TCGA-G4-6588-01A-11D-1771-10 TCGA-G4-6588-10A-01D-1771-10 g.chr1:22852881G>A c.3712G>A c.(3712-3714)Gcc>Acc p.A1238T DLBC 1 22816687 22816687 + Silent SNP A A G TCGA-G8-6324-01A-11D-2210-10 TCGA-G8-6324-10A-01D-2210-10 g.chr1:22816687A>G c.246A>G c.(244-246)aaA>aaG p.K82K DLBC 1 22838349 22838349 + Missense_Mutation SNP C C T TCGA-GS-A9TW-01A-11D-A382-10 TCGA-GS-A9TW-10A-01D-A385-10 g.chr1:22838349C>T c.2183C>T c.(2182-2184)tCc>tTc p.S728F DLBC 1 22838451 22838451 + Missense_Mutation SNP A A C TCGA-FA-A7Q1-01A-11D-A382-10 TCGA-FA-A7Q1-10A-01D-A385-10 g.chr1:22838451A>C c.2285A>C c.(2284-2286)aAg>aCg p.K762T ESCA 1 22816927 22816927 + Missense_Mutation SNP G G T TCGA-IG-A97H-01A-11D-A387-09 TCGA-IG-A97H-10A-01D-A38A-09 g.chr1:22816927G>T c.486G>T c.(484-486)gaG>gaT p.E162D ESCA 1 22839481 22839481 + Silent SNP G G T TCGA-LN-A9FP-01A-31D-A387-09 TCGA-LN-A9FP-10A-01D-A38A-09 g.chr1:22839481G>T c.2526G>T c.(2524-2526)ggG>ggT p.G842G ESCA 1 22848056 22848056 + Missense_Mutation SNP G G C TCGA-VR-A8EZ-01A-11D-A36J-09 TCGA-VR-A8EZ-10A-01D-A36M-09 g.chr1:22848056G>C c.3116G>C c.(3115-3117)cGa>cCa p.R1039P GBM 1 22835047 22835047 + Missense_Mutation SNP G G T TCGA-28-5218-01A-01D-1486-08 TCGA-28-5218-10A-01D-1486-08 g.chr1:22835047G>T c.1522G>T c.(1522-1524)Gac>Tac p.D508Y GBMLGG 1 22828087 22828087 + Missense_Mutation SNP C C A TCGA-DU-6392-01A-11D-1705-08 TCGA-DU-6392-10A-01D-1705-08 g.chr1:22828087C>A c.934C>A c.(934-936)Ctg>Atg p.L312M GBMLGG 1 22835047 22835047 + Missense_Mutation SNP G G T TCGA-28-5218-01A-01D-1486-08 TCGA-28-5218-10A-01D-1486-08 g.chr1:22835047G>T c.1522G>T c.(1522-1524)Gac>Tac p.D508Y GBMLGG 1 22848034 22848034 + Missense_Mutation SNP G G A TCGA-DU-6392-01A-11D-1705-08 TCGA-DU-6392-10A-01D-1705-08 g.chr1:22848034G>A c.3094G>A c.(3094-3096)Gta>Ata p.V1032I GBMLGG 1 22852748 22852748 + Silent SNP G G A TCGA-FG-A4MW-01A-11D-A26M-08 TCGA-FG-A4MW-10A-01D-A26K-08 g.chr1:22852748G>A c.3579G>A c.(3577-3579)gaG>gaA p.E1193E HNSC 1 22816681 22816681 + Silent SNP G G A TCGA-CV-7252-01A-11D-2012-08 TCGA-CV-7252-10A-01D-2013-08 g.chr1:22816681G>A c.240G>A c.(238-240)acG>acA p.T80T HNSC 1 22835204 22835204 + Missense_Mutation SNP C C T TCGA-F7-A624-01A-22D-A30E-08 TCGA-F7-A624-10A-01D-A30H-08 g.chr1:22835204C>T c.1679C>T c.(1678-1680)gCc>gTc p.A560V HNSC 1 22835697 22835697 + Missense_Mutation SNP G G C TCGA-CV-7568-01A-11D-2229-08 TCGA-CV-7568-10A-01D-2229-08 g.chr1:22835697G>C c.1804G>C c.(1804-1806)Gag>Cag p.E602Q HNSC 1 22837748 22837748 + Missense_Mutation SNP C C T TCGA-CN-A6V1-01A-12D-A34J-08 TCGA-CN-A6V1-10B-01D-A34M-08 g.chr1:22837748C>T c.1910C>T c.(1909-1911)tCa>tTa p.S637L HNSC 1 22837770 22837770 + Silent SNP C C T TCGA-CN-5373-01A-01D-1434-08 TCGA-CN-5373-10A-01D-1434-08 g.chr1:22837770C>T c.1932C>T c.(1930-1932)tgC>tgT p.C644C HNSC 1 22838582 22838582 + Missense_Mutation SNP C C T TCGA-CN-A6V1-01A-12D-A34J-08 TCGA-CN-A6V1-10B-01D-A34M-08 g.chr1:22838582C>T c.2416C>T c.(2416-2418)Cca>Tca p.P806S HNSC 1 22838593 22838593 + Silent SNP T T C TCGA-F7-A624-01A-22D-A30E-08 TCGA-F7-A624-10A-01D-A30H-08 g.chr1:22838593T>C c.2427T>C c.(2425-2427)tgT>tgC p.C809C HNSC 1 22843857 22843857 + Silent SNP C C T TCGA-F7-A624-01A-22D-A30E-08 TCGA-F7-A624-10A-01D-A30H-08 g.chr1:22843857C>T c.2733C>T c.(2731-2733)caC>caT p.H911H HNSC 1 22848021 22848021 + Silent SNP C C A TCGA-CV-A45P-01A-11D-A24D-08 TCGA-CV-A45P-10A-01D-A24F-08 g.chr1:22848021C>A c.3081C>A c.(3079-3081)acC>acA p.T1027T HNSC 1 22850916 22850916 + Silent SNP C C T TCGA-HD-8635-01A-11D-2394-08 TCGA-HD-8635-10A-01D-2394-08 g.chr1:22850916C>T c.3504C>T c.(3502-3504)gcC>gcT p.A1168A KICH 1 22839532 22839532 + Silent SNP C C T TCGA-KL-8338-01A-11D-2310-10 TCGA-KL-8338-11A-01D-2310-10 g.chr1:22839532C>T c.2577C>T c.(2575-2577)acC>acT p.T859T KIPAN 1 22816649 22816649 + Missense_Mutation SNP G G A TCGA-SX-A7SS-01A-11D-A35Z-10 TCGA-SX-A7SS-10A-01D-A35Z-10 g.chr1:22816649G>A c.208G>A c.(208-210)Gag>Aag p.E70K KIPAN 1 22816881 22816881 + Missense_Mutation SNP A A C TCGA-CJ-4904-01A-02D-1429-08 TCGA-CJ-4904-11A-01D-1429-08 g.chr1:22816881A>C c.440A>C c.(439-441)gAa>gCa p.E147A KIPAN 1 22828055 22828055 + Missense_Mutation SNP A A G TCGA-BP-4976-01A-01D-1462-08 TCGA-BP-4976-11A-01D-1462-08 g.chr1:22828055A>G c.902A>G c.(901-903)gAg>gGg p.E301G KIPAN 1 22839532 22839532 + Silent SNP C C T TCGA-KL-8338-01A-11D-2310-10 TCGA-KL-8338-11A-01D-2310-10 g.chr1:22839532C>T c.2577C>T c.(2575-2577)acC>acT p.T859T KIPAN 1 22843894 22843894 + Missense_Mutation SNP A A G TCGA-CJ-5682-01A-11D-1534-10 TCGA-CJ-5682-11A-01D-1535-10 g.chr1:22843894A>G c.2770A>G c.(2770-2772)Aga>Gga p.R924G KIPAN 1 22850736 22850737 + Frame_Shift_Ins INS - - T TCGA-BP-5191-01A-01D-1429-08 TCGA-BP-5191-11A-01D-1429-08 g.chr1:22850736_22850737insT c.3324_3325insT c.(3325-3327)tgtfs p.C1109fs KIPAN 1 22850847 22850847 + Silent SNP C C A TCGA-B1-7332-01A-11D-2136-08 TCGA-B1-7332-10A-01D-2136-08 g.chr1:22850847C>A c.3435C>A c.(3433-3435)acC>acA p.T1145T KIRC 1 22816881 22816881 + Missense_Mutation SNP A A C TCGA-CJ-4904-01A-02D-1429-08 TCGA-CJ-4904-11A-01D-1429-08 g.chr1:22816881A>C c.440A>C c.(439-441)gAa>gCa p.E147A KIRC 1 22828055 22828055 + Missense_Mutation SNP A A G TCGA-BP-4976-01A-01D-1462-08 TCGA-BP-4976-11A-01D-1462-08 g.chr1:22828055A>G c.902A>G c.(901-903)gAg>gGg p.E301G KIRC 1 22843894 22843894 + Missense_Mutation SNP A A G TCGA-CJ-5682-01A-11D-1534-10 TCGA-CJ-5682-11A-01D-1535-10 g.chr1:22843894A>G c.2770A>G c.(2770-2772)Aga>Gga p.R924G KIRC 1 22850736 22850737 + Frame_Shift_Ins INS - - T TCGA-BP-5191-01A-01D-1429-08 TCGA-BP-5191-11A-01D-1429-08 g.chr1:22850736_22850737insT c.3324_3325insT c.(3325-3327)tgtfs p.C1109fs KIRP 1 22816649 22816649 + Missense_Mutation SNP G G A TCGA-SX-A7SS-01A-11D-A35Z-10 TCGA-SX-A7SS-10A-01D-A35Z-10 g.chr1:22816649G>A c.208G>A c.(208-210)Gag>Aag p.E70K KIRP 1 22850847 22850847 + Silent SNP C C A TCGA-B1-7332-01A-11D-2136-08 TCGA-B1-7332-10A-01D-2136-08 g.chr1:22850847C>A c.3435C>A c.(3433-3435)acC>acA p.T1145T LGG 1 22828087 22828087 + Missense_Mutation SNP C C A TCGA-DU-6392-01A-11D-1705-08 TCGA-DU-6392-10A-01D-1705-08 g.chr1:22828087C>A c.934C>A c.(934-936)Ctg>Atg p.L312M LGG 1 22848034 22848034 + Missense_Mutation SNP G G A TCGA-DU-6392-01A-11D-1705-08 TCGA-DU-6392-10A-01D-1705-08 g.chr1:22848034G>A c.3094G>A c.(3094-3096)Gta>Ata p.V1032I LGG 1 22852748 22852748 + Silent SNP G G A TCGA-FG-A4MW-01A-11D-A26M-08 TCGA-FG-A4MW-10A-01D-A26K-08 g.chr1:22852748G>A c.3579G>A c.(3577-3579)gaG>gaA p.E1193E LIHC 1 22837792 22837792 + Nonsense_Mutation SNP A A T TCGA-DD-AACZ-01A-11D-A40R-10 TCGA-DD-AACZ-10A-01D-A40U-10 g.chr1:22837792A>T c.1954A>T c.(1954-1956)Aaa>Taa p.K652* LIHC 1 22838185 22838185 + Missense_Mutation SNP A A C TCGA-DD-A4NS-01A-11D-A30V-10 TCGA-DD-A4NS-10A-01D-A30V-10 g.chr1:22838185A>C c.2019A>C c.(2017-2019)gaA>gaC p.E673D LIHC 1 22848029 22848029 + Missense_Mutation SNP C C A TCGA-G3-A5SK-01A-11D-A27I-10 TCGA-G3-A5SK-10A-01D-A27I-10 g.chr1:22848029C>A c.3089C>A c.(3088-3090)cCt>cAt p.P1030H LUAD 1 22817950 22817950 + Nonsense_Mutation SNP C C G TCGA-78-7149-01A-11D-2036-08 TCGA-78-7149-10A-01D-2036-08 g.chr1:22817950C>G c.755C>G c.(754-756)tCa>tGa p.S252* LUAD 1 22817990 22817990 + Silent SNP A A G TCGA-44-2656-01A-02D-0969-08 TCGA-44-2656-10A-01D-0969-08 g.chr1:22817990A>G c.795A>G c.(793-795)ctA>ctG p.L265L LUAD 1 22818015 22818015 + Missense_Mutation SNP C C T TCGA-78-7149-01A-11D-2036-08 TCGA-78-7149-10A-01D-2036-08 g.chr1:22818015C>T c.820C>T c.(820-822)Cca>Tca p.P274S LUAD 1 22834577 22834577 + Missense_Mutation SNP A A C TCGA-17-Z056-01A-01W-0747-08 TCGA-17-Z056-11A-01W-0747-08 g.chr1:22834577A>C c.1444A>C c.(1444-1446)Att>Ctt p.I482L LUAD 1 22837737 22837737 + Silent SNP C C A TCGA-55-1592-01A-01D-0969-08 TCGA-55-1592-11A-01D-0969-08 g.chr1:22837737C>A c.1899C>A c.(1897-1899)gcC>gcA p.A633A LUAD 1 22837825 22837825 + Nonsense_Mutation SNP G G T TCGA-17-Z042-01A-01W-0746-08 TCGA-17-Z042-11A-01W-0746-08 g.chr1:22837825G>T c.1987G>T c.(1987-1989)Gag>Tag p.E663* LUAD 1 22839540 22839540 + Missense_Mutation SNP G G A TCGA-78-7158-01A-11D-2036-08 TCGA-78-7158-10A-01D-2036-08 g.chr1:22839540G>A c.2585G>A c.(2584-2586)cGc>cAc p.R862H LUAD 1 22848956 22848956 + Splice_Site SNP G G T TCGA-55-8506-01A-11D-2393-08 TCGA-55-8506-10A-01D-2393-08 g.chr1:22848956G>T c.3298G>T c.(3298-3300)Ggg>Tgg p.G1100W LUAD 1 22850841 22850841 + Silent SNP C C T TCGA-55-7907-01A-11D-2167-08 TCGA-55-7907-10A-01D-2167-08 g.chr1:22850841C>T c.3429C>T c.(3427-3429)ctC>ctT p.L1143L LUAD 1 22852714 22852714 + Missense_Mutation SNP C C T TCGA-17-Z027-01A-01W-0746-08 TCGA-17-Z027-11A-01W-0746-08 g.chr1:22852714C>T c.3545C>T c.(3544-3546)cCg>cTg p.P1182L LUSC 1 22816893 22816893 + Missense_Mutation SNP C C G TCGA-21-5782-01A-01D-1632-08 TCGA-21-5782-10A-01D-1632-08 g.chr1:22816893C>G c.452C>G c.(451-453)tCt>tGt p.S151C LUSC 1 22846715 22846715 + Missense_Mutation SNP A A C TCGA-22-5492-01A-01D-1632-08 TCGA-22-5492-11A-01D-1632-08 g.chr1:22846715A>C c.2995A>C c.(2995-2997)Acc>Ccc p.T999P OV 1 22838463 22838463 + Missense_Mutation SNP T T A TCGA-13-0714-01A-01W-0370-10 TCGA-13-0714-10B-01W-0370-10 g.chr1:22838463T>A c.2297T>A c.(2296-2298)gTg>gAg p.V766E PAAD 1 22832722 22832722 + Missense_Mutation SNP C C T TCGA-IB-7651-01A-11D-2154-08 TCGA-IB-7651-10A-01D-2154-08 g.chr1:22832722C>T c.1348C>T c.(1348-1350)Cca>Tca p.P450S PAAD 1 22846692 22846692 + Missense_Mutation SNP C C T TCGA-IB-7651-01A-11D-2154-08 TCGA-IB-7651-10A-01D-2154-08 g.chr1:22846692C>T c.2972C>T c.(2971-2973)tCc>tTc p.S991F PRAD 1 22828886 22828886 + Missense_Mutation SNP G G T TCGA-KC-A4BL-01A-31D-A257-08 TCGA-KC-A4BL-10A-01D-A25A-08 g.chr1:22828886G>T c.1119G>T c.(1117-1119)gaG>gaT p.E373D READ 1 22816775 22816775 + Missense_Mutation SNP C C A TCGA-AG-A002-01A-01W-A00K-09 TCGA-AG-A002-10A-01W-A00K-09 g.chr1:22816775C>A c.334C>A c.(334-336)Ctt>Att p.L112I SKCM 1 22816548 22816548 + Missense_Mutation SNP G G A TCGA-FS-A1Z3-06A-11D-A197-08 TCGA-FS-A1Z3-10A-01D-A199-08 g.chr1:22816548G>A c.107G>A c.(106-108)aGg>aAg p.R36K SKCM 1 22817048 22817048 + Missense_Mutation SNP C C T TCGA-EE-A2MG-06A-11D-A197-08 TCGA-EE-A2MG-10A-01D-A199-08 g.chr1:22817048C>T c.607C>T c.(607-609)Cca>Tca p.P203S SKCM 1 22817077 22817077 + Silent SNP T T C TCGA-OD-A75X-06A-12D-A32N-08 TCGA-OD-A75X-10A-01D-A32N-08 g.chr1:22817077T>C c.636T>C c.(634-636)gcT>gcC p.A212A SKCM 1 22817085 22817085 + Missense_Mutation SNP C C T TCGA-EE-A29M-06A-11D-A196-08 TCGA-EE-A29M-10A-01D-A198-08 g.chr1:22817085C>T c.644C>T c.(643-645)cCc>cTc p.P215L SKCM 1 22817086 22817086 + Silent SNP C C T TCGA-EE-A29M-06A-11D-A196-08 TCGA-EE-A29M-10A-01D-A198-08 g.chr1:22817086C>T c.645C>T c.(643-645)ccC>ccT p.P215P SKCM 1 22828003 22828003 + Missense_Mutation SNP G G C TCGA-EE-A3AG-06A-31D-A196-08 TCGA-EE-A3AG-10A-01D-A198-08 g.chr1:22828003G>C c.850G>C c.(850-852)Gag>Cag p.E284Q SKCM 1 22834550 22834550 + Missense_Mutation SNP C C T TCGA-FW-A3R5-06A-11D-A23B-08 TCGA-FW-A3R5-10A-01D-A23B-08 g.chr1:22834550C>T c.1417C>T c.(1417-1419)Ctc>Ttc p.L473F SKCM 1 22834596 22834596 + Missense_Mutation SNP C C T TCGA-D3-A2JF-06A-11D-A196-08 TCGA-D3-A2JF-10A-01D-A198-08 g.chr1:22834596C>T c.1463C>T c.(1462-1464)tCa>tTa p.S488L SKCM 1 22835087 22835087 + Missense_Mutation SNP T T C TCGA-EE-A29L-06A-12D-A196-08 TCGA-EE-A29L-10A-01D-A198-08 g.chr1:22835087T>C c.1562T>C c.(1561-1563)gTt>gCt p.V521A SKCM 1 22835217 22835217 + Silent SNP C C T TCGA-D9-A6EC-06A-11D-A30X-08 TCGA-D9-A6EC-10A-01D-A30X-08 g.chr1:22835217C>T c.1692C>T c.(1690-1692)ttC>ttT p.F564F SKCM 1 22837755 22837755 + Silent SNP G G A TCGA-EE-A2GL-06A-11D-A196-08 TCGA-EE-A2GL-10A-01D-A198-08 g.chr1:22837755G>A c.1917G>A c.(1915-1917)ccG>ccA p.P639P SKCM 1 22838270 22838270 + Missense_Mutation SNP G G A TCGA-DA-A1I0-06A-11D-A20D-08 TCGA-DA-A1I0-10B-01D-A20D-08 g.chr1:22838270G>A c.2104G>A c.(2104-2106)Gac>Aac p.D702N SKCM 1 22838343 22838343 + Missense_Mutation SNP C C T TCGA-FW-A3R5-06A-11D-A23B-08 TCGA-FW-A3R5-10A-01D-A23B-08 g.chr1:22838343C>T c.2177C>T c.(2176-2178)tCa>tTa p.S726L SKCM 1 22838356 22838356 + Silent SNP C C T TCGA-EE-A29M-06A-11D-A196-08 TCGA-EE-A29M-10A-01D-A198-08 g.chr1:22838356C>T c.2190C>T c.(2188-2190)gaC>gaT p.D730D SKCM 1 22838541 22838541 + Missense_Mutation SNP G G A TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 g.chr1:22838541G>A c.2375G>A c.(2374-2376)gGt>gAt p.G792D SKCM 1 22839521 22839521 + Missense_Mutation SNP C C T TCGA-ER-A19E-06A-11D-A197-08 TCGA-ER-A19E-10A-01D-A199-08 g.chr1:22839521C>T c.2566C>T c.(2566-2568)Cgc>Tgc p.R856C SKCM 1 22850861 22850861 + Missense_Mutation SNP T T A TCGA-D9-A6EC-06A-11D-A30X-08 TCGA-D9-A6EC-10A-01D-A30X-08 g.chr1:22850861T>A c.3449T>A c.(3448-3450)cTt>cAt p.L1150H SKCM 1 22850879 22850879 + Missense_Mutation SNP C C T TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 g.chr1:22850879C>T c.3467C>T c.(3466-3468)tCt>tTt p.S1156F SKCM 1 22850922 22850922 + Silent SNP C C T TCGA-GN-A268-06A-11D-A196-08 TCGA-GN-A268-10A-01D-A198-08 g.chr1:22850922C>T c.3510C>T c.(3508-3510)gcC>gcT p.A1170A SKCM 1 22852732 22852732 + Missense_Mutation SNP A A G TCGA-FS-A1ZW-06A-12D-A197-08 TCGA-FS-A1ZW-10A-01D-A199-08 g.chr1:22852732A>G c.3563A>G c.(3562-3564)cAg>cGg p.Q1188R SKCM 1 22852806 22852806 + Nonsense_Mutation SNP C C T TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 g.chr1:22852806C>T c.3637C>T c.(3637-3639)Cag>Tag p.Q1213* SKCM 1 22852823 22852823 + Silent SNP C C T TCGA-EE-A181-06A-11D-A196-08 TCGA-EE-A181-10A-01D-A198-08 g.chr1:22852823C>T c.3654C>T c.(3652-3654)ctC>ctT p.L1218L SKCM 1 22852823 22852823 + Silent SNP C C T TCGA-EE-A2MF-06A-11D-A21A-08 TCGA-EE-A2MF-10B-01D-A21A-08 g.chr1:22852823C>T c.3654C>T c.(3652-3654)ctC>ctT p.L1218L SKCM 1 22852861 22852861 + Missense_Mutation SNP T T G TCGA-D9-A6EC-06A-11D-A30X-08 TCGA-D9-A6EC-10A-01D-A30X-08 g.chr1:22852861T>G c.3692T>G c.(3691-3693)gTg>gGg p.V1231G

Mutation - ICGC Project Code Chromosome Chromosome Start Chromosome End Mutation Type Mutated from Allele Mutated to Allele Consequence Type AA Mutation CDS Mutation BLCA-US 1 22816495 22816495 single base substitution C T synonymous_variant C18C 54C>T BLCA-US 1 22828819 22828819 single base substitution C G intron_variant BLCA-US 1 22828819 22828819 single base substitution C G missense_variant S351C 1052C>G BLCA-US 1 22828866 22828866 single base substitution C T intron_variant BLCA-US 1 22828866 22828866 single base substitution C T stop_gained Q367* 1099C>T BLCA-US 1 22832611 22832611 single base substitution G A missense_variant E301K 901G>A BLCA-US 1 22832611 22832611 single base substitution G A missense_variant E413K 1237G>A BLCA-US 1 22838486 22838486 single base substitution A T missense_variant T662S 1984A>T BLCA-US 1 22838486 22838486 single base substitution A T missense_variant T774S 2320A>T BLCA-US 1 22838561 22838563 deletion of <=200bp AAG - inframe_deletion K687 BLCA-US 1 22838561 22838563 deletion of <=200bp AAG - inframe_deletion K799 BLCA-US 1 22852749 22852749 single base substitution G C missense_variant E1082Q 3244G>C BLCA-US 1 22852749 22852749 single base substitution G C missense_variant E1194Q 3580G>C BRCA-EU 1 22775473 22775473 deletion of <=200bp T - upstream_gene_variant BRCA-EU 1 22776377 22776377 single base substitution C G upstream_gene_variant BRCA-EU 1 22778296 22778296 single base substitution G T upstream_gene_variant BRCA-EU 1 22778587 22778587 single base substitution C G intron_variant BRCA-EU 1 22778913 22778913 single base substitution G C intron_variant BRCA-EU 1 22779072 22779072 single base substitution C T intron_variant BRCA-EU 1 22779204 22779204 single base substitution C T 5_prime_UTR_variant BRCA-EU 1 22779204 22779204 single base substitution C T intron_variant BRCA-EU 1 22782667 22782667 single base substitution G A intron_variant BRCA-EU 1 22783336 22783336 single base substitution C T intron_variant BRCA-EU 1 22784264 22784264 single base substitution C G intron_variant BRCA-EU 1 22786331 22786331 single base substitution T C intron_variant BRCA-EU 1 22787294 22787294 single base substitution C T intron_variant BRCA-EU 1 22788575 22788575 single base substitution C G intron_variant BRCA-EU 1 22789490 22789490 single base substitution A G intron_variant BRCA-EU 1 22790479 22790479 single base substitution C G intron_variant BRCA-EU 1 22790882 22790882 single base substitution C G intron_variant BRCA-EU 1 22791203 22791203 single base substitution C G intron_variant BRCA-EU 1 22792979 22792979 single base substitution C G intron_variant BRCA-EU 1 22793213 22793213 single base substitution T C intron_variant BRCA-EU 1 22793556 22793556 deletion of <=200bp T - intron_variant BRCA-EU 1 22793677 22793677 deletion of <=200bp T - intron_variant BRCA-EU 1 22796421 22796421 deletion of <=200bp T - intron_variant BRCA-EU 1 22799233 22799233 single base substitution T C intron_variant BRCA-EU 1 22800600 22800600 single base substitution T G intron_variant BRCA-EU 1 22801685 22801685 single base substitution C T intron_variant BRCA-EU 1 22802313 22802313 single base substitution A T intron_variant BRCA-EU 1 22804888 22804888 single base substitution C A intron_variant BRCA-EU 1 22804991 22804991 single base substitution C T intron_variant BRCA-EU 1 22805057 22805057 single base substitution A G intron_variant BRCA-EU 1 22806407 22806407 insertion of <=200bp - T intron_variant BRCA-EU 1 22806516 22806516 single base substitution C A intron_variant BRCA-EU 1 22806839 22806839 single base substitution C G intron_variant BRCA-EU 1 22808129 22808129 single base substitution C A intron_variant BRCA-EU 1 22811677 22811677 single base substitution C A intron_variant BRCA-EU 1 22811687 22811687 single base substitution C T intron_variant BRCA-EU 1 22812236 22812236 single base substitution C G intron_variant BRCA-EU 1 22813417 22813417 single base substitution G A intron_variant BRCA-EU 1 22813683 22813683 single base substitution G T intron_variant BRCA-EU 1 22814346 22814346 single base substitution A G intron_variant BRCA-EU 1 22815133 22815133 single base substitution G A intron_variant BRCA-EU 1 22816333 22816333 single base substitution T G intron_variant BRCA-EU 1 22818249 22818249 single base substitution T G intron_variant BRCA-EU 1 22819047 22819047 single base substitution G A intron_variant BRCA-EU 1 22821219 22821219 single base substitution G A intron_variant BRCA-EU 1 22823652 22823652 single base substitution G T intron_variant BRCA-EU 1 22824003 22824003 single base substitution G A intron_variant BRCA-EU 1 22824336 22824336 single base substitution G A intron_variant BRCA-EU 1 22824567 22824567 single base substitution T C intron_variant BRCA-EU 1 22824710 22824710 single base substitution T G intron_variant BRCA-EU 1 22825252 22825252 single base substitution A G intron_variant BRCA-EU 1 22827411 22827411 single base substitution A T intron_variant BRCA-EU 1 22830924 22830924 single base substitution C G intron_variant BRCA-EU 1 22831311 22831311 single base substitution C T intron_variant BRCA-EU 1 22832277 22832277 single base substitution T A intron_variant BRCA-EU 1 22834694 22834694 single base substitution T C downstream_gene_variant BRCA-EU 1 22834694 22834694 single base substitution T C intron_variant BRCA-EU 1 22836457 22836457 single base substitution T C downstream_gene_variant BRCA-EU 1 22836457 22836457 single base substitution T C intron_variant BRCA-EU 1 22837471 22837471 deletion of <=200bp T - downstream_gene_variant BRCA-EU 1 22837471 22837471 deletion of <=200bp T - intron_variant BRCA-EU 1 22838519 22838519 single base substitution C T stop_gained Q673* 2017C>T BRCA-EU 1 22838519 22838519 single base substitution C T stop_gained Q785* 2353C>T BRCA-EU 1 22840767 22840767 single base substitution C G intron_variant BRCA-EU 1 22841356 22841356 single base substitution G A intron_variant BRCA-EU 1 22843971 22843971 single base substitution G A intron_variant BRCA-EU 1 22844219 22844219 single base substitution C T intron_variant BRCA-EU 1 22844414 22844414 single base substitution C T intron_variant BRCA-EU 1 22848093 22848093 single base substitution T C synonymous_variant C1051C 3153T>C BRCA-EU 1 22848093 22848093 single base substitution T C synonymous_variant C939C 2817T>C BRCA-EU 1 22850377 22850377 single base substitution G A intron_variant BRCA-EU 1 22852695 22852695 single base substitution G T missense_variant V1064L 3190G>T BRCA-EU 1 22852695 22852695 single base substitution G T missense_variant V1176L 3526G>T BRCA-EU 1 22853182 22853182 single base substitution C T 3_prime_UTR_variant BRCA-EU 1 22853568 22853568 single base substitution C G 3_prime_UTR_variant BRCA-EU 1 22854001 22854001 single base substitution G A 3_prime_UTR_variant BRCA-EU 1 22854001 22854001 single base substitution G A downstream_gene_variant BRCA-EU 1 22854043 22854043 single base substitution G A 3_prime_UTR_variant BRCA-EU 1 22854043 22854043 single base substitution G A downstream_gene_variant BRCA-EU 1 22855091 22855091 single base substitution C G 3_prime_UTR_variant BRCA-EU 1 22855091 22855091 single base substitution C G downstream_gene_variant BRCA-EU 1 22855516 22855516 single base substitution C T 3_prime_UTR_variant BRCA-EU 1 22855516 22855516 single base substitution C T downstream_gene_variant BRCA-EU 1 22856667 22856667 single base substitution G A 3_prime_UTR_variant BRCA-EU 1 22856667 22856667 single base substitution G A downstream_gene_variant BRCA-EU 1 22858308 22858308 single base substitution G A downstream_gene_variant BRCA-EU 1 22860111 22860111 single base substitution C T downstream_gene_variant BRCA-EU 1 22860553 22860553 single base substitution T A downstream_gene_variant BRCA-EU 1 22861164 22861164 single base substitution C T downstream_gene_variant BRCA-EU 1 22861581 22861581 single base substitution C G downstream_gene_variant BRCA-EU 1 22861665 22861665 single base substitution C G downstream_gene_variant BRCA-EU 1 22861982 22861982 single base substitution G T downstream_gene_variant BRCA-FR 1 22783336 22783336 single base substitution C T intron_variant BRCA-FR 1 22806516 22806516 single base substitution C A intron_variant BRCA-FR 1 22813417 22813417 single base substitution G A intron_variant BRCA-FR 1 22821219 22821219 single base substitution G A intron_variant BRCA-FR 1 22832277 22832277 single base substitution T A intron_variant BRCA-FR 1 22833177 22833177 single base substitution G A downstream_gene_variant BRCA-FR 1 22833177 22833177 single base substitution G A intron_variant BRCA-FR 1 22840119 22840119 single base substitution G A intron_variant BRCA-FR 1 22843604 22843604 single base substitution C T intron_variant BRCA-FR 1 22853182 22853182 single base substitution C T 3_prime_UTR_variant BRCA-UK 1 22814346 22814346 single base substitution A G intron_variant BRCA-US 1 22816815 22816815 single base substitution T G missense_variant V125G 374T>G BRCA-US 1 22817082 22817082 deletion of <=200bp C - frameshift_variant S214 BRCA-US 1 22828833 22828833 single base substitution G T intron_variant BRCA-US 1 22828833 22828833 single base substitution G T stop_gained E356* 1066G>T BRCA-US 1 22835081 22835081 single base substitution C G downstream_gene_variant BRCA-US 1 22835081 22835081 single base substitution C G stop_gained S407* 1220C>G BRCA-US 1 22835081 22835081 single base substitution C G stop_gained S519* 1556C>G BRCA-US 1 22835660 22835660 single base substitution C A downstream_gene_variant BRCA-US 1 22835660 22835660 single base substitution C A synonymous_variant I477I 1431C>A BRCA-US 1 22835660 22835660 single base substitution C A synonymous_variant I589I 1767C>A BRCA-US 1 22835712 22835712 single base substitution G A downstream_gene_variant BRCA-US 1 22835712 22835712 single base substitution G A missense_variant E495K 1483G>A BRCA-US 1 22835712 22835712 single base substitution G A missense_variant E607K 1819G>A BRCA-US 1 22838211 22838211 single base substitution T G missense_variant V570G 1709T>G BRCA-US 1 22838211 22838211 single base substitution T G missense_variant V682G 2045T>G BRCA-US 1 22839544 22839544 single base substitution G A synonymous_variant P751P 2253G>A BRCA-US 1 22839544 22839544 single base substitution G A synonymous_variant P863P 2589G>A BRCA-US 1 22839582 22839582 single base substitution C T missense_variant A764V 2291C>T BRCA-US 1 22839582 22839582 single base substitution C T missense_variant A876V 2627C>T BRCA-US 1 22848143 22848143 deletion of <=200bp A - frameshift_variant E1068 BRCA-US 1 22848143 22848143 deletion of <=200bp A - frameshift_variant E956 BRCA-US 1 22852823 22852823 single base substitution C T synonymous_variant L1106L 3318C>T BRCA-US 1 22852823 22852823 single base substitution C T synonymous_variant L1218L 3654C>T BTCA-JP 1 22817973 22817973 single base substitution G A missense_variant D260N 778G>A BTCA-JP 1 22817981 22817981 insertion of <=200bp - A frameshift_variant L262L? BTCA-JP 1 22818154 22818154 single base substitution T G intron_variant BTCA-JP 1 22838389 22838389 single base substitution C T synonymous_variant C629C 1887C>T BTCA-JP 1 22838389 22838389 single base substitution C T synonymous_variant C741C 2223C>T BTCA-JP 1 22848915 22848915 single base substitution C T missense_variant T1086M 3257C>T BTCA-JP 1 22848915 22848915 single base substitution C T missense_variant T974M 2921C>T CESC-US 1 22817950 22817950 single base substitution C G stop_gained S252* 755C>G CESC-US 1 22817988 22817988 single base substitution C G missense_variant L265V 793C>G CESC-US 1 22835630 22835630 single base substitution G C downstream_gene_variant CESC-US 1 22835630 22835630 single base substitution G C synonymous_variant L467L 1401G>C CESC-US 1 22835630 22835630 single base substitution G C synonymous_variant L579L 1737G>C CESC-US 1 22848902 22848902 single base substitution G C missense_variant E1082Q 3244G>C CESC-US 1 22848902 22848902 single base substitution G C missense_variant E970Q 2908G>C CESC-US 1 22850819 22850819 single base substitution C T missense_variant P1024L 3071C>T CESC-US 1 22850819 22850819 single base substitution C T missense_variant P1136L 3407C>T CLLE-ES 1 22813475 22813475 single base substitution G A intron_variant CLLE-ES 1 22828131 22828131 single base substitution A G intron_variant CLLE-ES 1 22828131 22828131 single base substitution A G synonymous_variant A326A 978A>G COAD-US 1 22818023 22818023 single base substitution G A synonymous_variant K276K 828G>A COAD-US 1 22835101 22835101 insertion of <=200bp - CT downstream_gene_variant COAD-US 1 22835101 22835101 insertion of <=200bp - CT frameshift_variant T414L? COAD-US 1 22835101 22835101 insertion of <=200bp - CT frameshift_variant T526L? COAD-US 1 22835147 22835147 single base substitution A G downstream_gene_variant COAD-US 1 22835147 22835147 single base substitution A G missense_variant E429G 1286A>G COAD-US 1 22835147 22835147 single base substitution A G missense_variant E541G 1622A>G COAD-US 1 22837793 22837793 single base substitution A G missense_variant K540R 1619A>G COAD-US 1 22837793 22837793 single base substitution A G missense_variant K652R 1955A>G COAD-US 1 22839587 22839587 single base substitution G A missense_variant A766T 2296G>A COAD-US 1 22839587 22839587 single base substitution G A missense_variant A878T 2632G>A COAD-US 1 22848044 22848044 single base substitution C A missense_variant A1035D 3104C>A COAD-US 1 22848044 22848044 single base substitution C A missense_variant A923D 2768C>A COAD-US 1 22852881 22852881 single base substitution G A missense_variant A1126T 3376G>A COAD-US 1 22852881 22852881 single base substitution G A missense_variant A1238T 3712G>A COCA-CN 1 22828933 22828933 single base substitution G A intron_variant COCA-CN 1 22828933 22828933 single base substitution G A missense_variant R389K 1166G>A COCA-CN 1 22829058 22829058 single base substitution G A intron_variant COCA-CN 1 22834981 22834981 single base substitution C T downstream_gene_variant COCA-CN 1 22834981 22834981 single base substitution C T intron_variant COCA-CN 1 22835026 22835026 single base substitution A C downstream_gene_variant COCA-CN 1 22835026 22835026 single base substitution A C missense_variant M389L 1165A>C COCA-CN 1 22835026 22835026 single base substitution A C missense_variant M501L 1501A>C COCA-CN 1 22835460 22835460 single base substitution T G downstream_gene_variant COCA-CN 1 22835460 22835460 single base substitution T G intron_variant COCA-CN 1 22850752 22850752 single base substitution C T missense_variant R1002C 3004C>T COCA-CN 1 22850752 22850752 single base substitution C T missense_variant R1114C 3340C>T COCA-CN 1 22850786 22850786 single base substitution C T missense_variant T1013M 3038C>T COCA-CN 1 22850786 22850786 single base substitution C T missense_variant T1125M 3374C>T COCA-CN 1 22852704 22852704 single base substitution A C missense_variant T1067P 3199A>C COCA-CN 1 22852704 22852704 single base substitution A C missense_variant T1179P 3535A>C COCA-CN 1 22852715 22852715 single base substitution G C synonymous_variant P1070P 3210G>C COCA-CN 1 22852715 22852715 single base substitution G C synonymous_variant P1182P 3546G>C EOPC-DE 1 22793087 22793087 single base substitution T A intron_variant EOPC-DE 1 22822972 22822972 single base substitution G A intron_variant ESAD-UK 1 22774555 22774556 deletion of <=200bp CT - upstream_gene_variant ESAD-UK 1 22774918 22774918 single base substitution G A upstream_gene_variant ESAD-UK 1 22775472 22775472 single base substitution A T upstream_gene_variant ESAD-UK 1 22776019 22776019 single base substitution T C upstream_gene_variant ESAD-UK 1 22783686 22783686 single base substitution G T intron_variant ESAD-UK 1 22785675 22785675 single base substitution C T intron_variant ESAD-UK 1 22793834 22793834 single base substitution G T intron_variant ESAD-UK 1 22795497 22795497 deletion of <=200bp T - intron_variant ESAD-UK 1 22802476 22802476 deletion of <=200bp C - intron_variant ESAD-UK 1 22804068 22804068 single base substitution G A intron_variant ESAD-UK 1 22805034 22805034 single base substitution C T intron_variant ESAD-UK 1 22805386 22805386 single base substitution G A intron_variant ESAD-UK 1 22807045 22807045 single base substitution G A intron_variant ESAD-UK 1 22810402 22810402 single base substitution T G intron_variant ESAD-UK 1 22812047 22812059 deletion of <=200bp ATGCCTAGGCTCA - intron_variant ESAD-UK 1 22813592 22813592 single base substitution A C intron_variant ESAD-UK 1 22816069 22816069 single base substitution G A intron_variant ESAD-UK 1 22817324 22817324 single base substitution A G intron_variant ESAD-UK 1 22819914 22819914 single base substitution C T intron_variant ESAD-UK 1 22819925 22819925 insertion of <=200bp - TC intron_variant ESAD-UK 1 22820010 22820010 single base substitution A G intron_variant ESAD-UK 1 22823363 22823363 single base substitution G C intron_variant ESAD-UK 1 22824638 22824638 single base substitution A C intron_variant ESAD-UK 1 22825891 22825891 single base substitution A G intron_variant ESAD-UK 1 22826521 22826521 single base substitution C G intron_variant ESAD-UK 1 22828500 22828500 single base substitution A C intron_variant ESAD-UK 1 22829083 22829083 single base substitution C T intron_variant ESAD-UK 1 22831632 22831632 single base substitution A T intron_variant ESAD-UK 1 22834355 22834355 single base substitution G C downstream_gene_variant ESAD-UK 1 22834355 22834355 single base substitution G C intron_variant ESAD-UK 1 22834966 22834966 single base substitution C A downstream_gene_variant ESAD-UK 1 22834966 22834966 single base substitution C A intron_variant ESAD-UK 1 22835304 22835304 single base substitution C G downstream_gene_variant ESAD-UK 1 22835304 22835304 single base substitution C G intron_variant ESAD-UK 1 22835986 22835986 single base substitution C T downstream_gene_variant ESAD-UK 1 22835986 22835986 single base substitution C T intron_variant ESAD-UK 1 22836947 22836947 single base substitution G A downstream_gene_variant ESAD-UK 1 22836947 22836947 single base substitution G A intron_variant ESAD-UK 1 22838384 22838384 single base substitution G A missense_variant A628T 1882G>A ESAD-UK 1 22838384 22838384 single base substitution G A missense_variant A740T 2218G>A ESAD-UK 1 22841514 22841514 single base substitution G A intron_variant ESAD-UK 1 22843743 22843743 single base substitution A G intron_variant ESAD-UK 1 22844359 22844359 single base substitution C T intron_variant ESAD-UK 1 22852920 22852920 single base substitution G A 3_prime_UTR_variant ESAD-UK 1 22853933 22853933 single base substitution A G 3_prime_UTR_variant ESAD-UK 1 22853933 22853933 single base substitution A G downstream_gene_variant ESAD-UK 1 22854092 22854092 single base substitution G A 3_prime_UTR_variant ESAD-UK 1 22854092 22854092 single base substitution G A downstream_gene_variant ESAD-UK 1 22860013 22860013 single base substitution G C downstream_gene_variant ESAD-UK 1 22861036 22861036 single base substitution A G downstream_gene_variant ESCA-CN 1 22816689 22816689 deletion of <=200bp T - frameshift_variant L83 GBM-US 1 22835047 22835047 single base substitution G T downstream_gene_variant GBM-US 1 22835047 22835047 single base substitution G T missense_variant D396Y 1186G>T GBM-US 1 22835047 22835047 single base substitution G T missense_variant D508Y 1522G>T KIRC-US 1 22816881 22816881 single base substitution A C missense_variant E147A 440A>C KIRC-US 1 22828055 22828055 single base substitution A G intron_variant KIRC-US 1 22828055 22828055 single base substitution A G missense_variant E301G 902A>G KIRC-US 1 22843894 22843894 single base substitution A G missense_variant R812G 2434A>G KIRC-US 1 22843894 22843894 single base substitution A G missense_variant R924G 2770A>G KIRC-US 1 22850736 22850736 insertion of <=200bp - T frameshift_variant Y1108Y? KIRC-US 1 22850736 22850736 insertion of <=200bp - T frameshift_variant Y996Y? LAML-KR 1 22818155 22818155 single base substitution G T intron_variant LAML-KR 1 22834693 22834693 single base substitution A C downstream_gene_variant LAML-KR 1 22834693 22834693 single base substitution A C intron_variant LAML-KR 1 22844449 22844449 single base substitution T A intron_variant LAML-KR 1 22849464 22849464 single base substitution G A intron_variant LGG-US 1 22838561 22838563 deletion of <=200bp AAG - inframe_deletion K687 LGG-US 1 22838561 22838563 deletion of <=200bp AAG - inframe_deletion K799 LGG-US 1 22852748 22852748 single base substitution G A synonymous_variant E1081E 3243G>A LGG-US 1 22852748 22852748 single base substitution G A synonymous_variant E1193E 3579G>A LICA-FR 1 22786978 22786978 single base substitution C A intron_variant LICA-FR 1 22799426 22799426 single base substitution C A intron_variant LICA-FR 1 22801437 22801437 insertion of <=200bp - A intron_variant LICA-FR 1 22825561 22825561 single base substitution G A intron_variant LICA-FR 1 22838258 22838258 single base substitution G A missense_variant A586T 1756G>A LICA-FR 1 22838258 22838258 single base substitution G A missense_variant A698T 2092G>A LICA-FR 1 22843850 22843850 deletion of <=200bp C - frameshift_variant S797 LICA-FR 1 22843850 22843850 deletion of <=200bp C - frameshift_variant S909 LIHC-US 1 22816452 22816452 single base substitution C G missense_variant P4R 11C>G LIHC-US 1 22838185 22838185 single base substitution A C missense_variant E561D 1683A>C LIHC-US 1 22838185 22838185 single base substitution A C missense_variant E673D 2019A>C LIHC-US 1 22839460 22839460 single base substitution T C synonymous_variant P723P 2169T>C LIHC-US 1 22839460 22839460 single base substitution T C synonymous_variant P835P 2505T>C LIHC-US 1 22848029 22848029 single base substitution C A missense_variant P1030H 3089C>A LIHC-US 1 22848029 22848029 single base substitution C A missense_variant P918H 2753C>A LINC-JP 1 22778681 22778681 single base substitution T C intron_variant LINC-JP 1 22787823 22787823 deletion of <=200bp T - intron_variant LINC-JP 1 22816491 22816491 single base substitution T C missense_variant L17P 50T>C LINC-JP 1 22817020 22817020 single base substitution C G synonymous_variant A193A 579C>G LINC-JP 1 22822354 22822354 single base substitution T C intron_variant LINC-JP 1 22824643 22824643 single base substitution T C intron_variant LINC-JP 1 22831455 22831455 single base substitution G T intron_variant LINC-JP 1 22839882 22839882 single base substitution C G intron_variant LINC-JP 1 22843728 22843728 single base substitution A G intron_variant LINC-JP 1 22850751 22850751 single base substitution C A missense_variant F1001L 3003C>A LINC-JP 1 22850751 22850751 single base substitution C A missense_variant F1113L 3339C>A LIRI-JP 1 22774572 22774572 single base substitution A G upstream_gene_variant LIRI-JP 1 22775069 22775069 single base substitution C T upstream_gene_variant LIRI-JP 1 22775771 22775771 single base substitution G A upstream_gene_variant LIRI-JP 1 22779283 22779283 single base substitution T G 5_prime_UTR_variant LIRI-JP 1 22779283 22779283 single base substitution T G intron_variant LIRI-JP 1 22781677 22781677 single base substitution G A intron_variant LIRI-JP 1 22781793 22781793 single base substitution T G intron_variant LIRI-JP 1 22784004 22784004 single base substitution C A intron_variant LIRI-JP 1 22784465 22784465 insertion of <=200bp - A intron_variant LIRI-JP 1 22785489 22785489 single base substitution G T intron_variant LIRI-JP 1 22787150 22787150 single base substitution A G intron_variant LIRI-JP 1 22787947 22787947 single base substitution G A intron_variant LIRI-JP 1 22791865 22791865 single base substitution T C intron_variant LIRI-JP 1 22792050 22792050 single base substitution C G intron_variant LIRI-JP 1 22793775 22793775 single base substitution A C intron_variant LIRI-JP 1 22797991 22797991 single base substitution A C intron_variant LIRI-JP 1 22798797 22798797 single base substitution C G intron_variant LIRI-JP 1 22802433 22802433 single base substitution A T intron_variant LIRI-JP 1 22804948 22804948 single base substitution G C intron_variant LIRI-JP 1 22806461 22806461 single base substitution A G intron_variant LIRI-JP 1 22808706 22808706 single base substitution A T intron_variant LIRI-JP 1 22809701 22809701 single base substitution C G intron_variant LIRI-JP 1 22810227 22810227 single base substitution G C intron_variant LIRI-JP 1 22811079 22811079 single base substitution C T intron_variant LIRI-JP 1 22818523 22818523 single base substitution A G intron_variant LIRI-JP 1 22820799 22820799 single base substitution G A intron_variant LIRI-JP 1 22821737 22821737 single base substitution G A intron_variant LIRI-JP 1 22821957 22821957 single base substitution C G intron_variant LIRI-JP 1 22823731 22823731 single base substitution A G intron_variant LIRI-JP 1 22828389 22828389 single base substitution G T intron_variant LIRI-JP 1 22829426 22829426 single base substitution A G intron_variant LIRI-JP 1 22830267 22830267 single base substitution A G intron_variant LIRI-JP 1 22830757 22830757 single base substitution G T intron_variant LIRI-JP 1 22832383 22832386 deletion of <=200bp AAGG - intron_variant LIRI-JP 1 22833817 22833817 single base substitution G T downstream_gene_variant LIRI-JP 1 22833817 22833817 single base substitution G T intron_variant LIRI-JP 1 22836692 22836692 single base substitution A G downstream_gene_variant LIRI-JP 1 22836692 22836692 single base substitution A G intron_variant LIRI-JP 1 22836948 22836948 single base substitution A G downstream_gene_variant LIRI-JP 1 22836948 22836948 single base substitution A G intron_variant LIRI-JP 1 22837006 22837006 single base substitution A G downstream_gene_variant LIRI-JP 1 22837006 22837006 single base substitution A G intron_variant LIRI-JP 1 22837934 22837934 single base substitution A G intron_variant LIRI-JP 1 22841306 22841306 single base substitution C A intron_variant LIRI-JP 1 22841812 22841812 single base substitution A G intron_variant LIRI-JP 1 22844750 22844750 single base substitution C G intron_variant LIRI-JP 1 22846866 22846866 single base substitution C G intron_variant LIRI-JP 1 22847441 22847441 single base substitution G A intron_variant LIRI-JP 1 22850823 22850823 single base substitution T C synonymous_variant C1025C 3075T>C LIRI-JP 1 22850823 22850823 single base substitution T C synonymous_variant C1137C 3411T>C LIRI-JP 1 22851739 22851739 single base substitution C T intron_variant LIRI-JP 1 22854044 22854044 single base substitution A G 3_prime_UTR_variant LIRI-JP 1 22854044 22854044 single base substitution A G downstream_gene_variant LIRI-JP 1 22854899 22854899 single base substitution G A 3_prime_UTR_variant LIRI-JP 1 22854899 22854899 single base substitution G A downstream_gene_variant LIRI-JP 1 22854955 22854955 single base substitution C T 3_prime_UTR_variant LIRI-JP 1 22854955 22854955 single base substitution C T downstream_gene_variant LIRI-JP 1 22858309 22858309 single base substitution A G downstream_gene_variant LIRI-JP 1 22858779 22858779 single base substitution G T downstream_gene_variant LIRI-JP 1 22860616 22860616 single base substitution G T downstream_gene_variant LIRI-JP 1 22861317 22861317 single base substitution C G downstream_gene_variant LIRI-JP 1 22862389 22862389 single base substitution G A downstream_gene_variant LUSC-KR 1 22782824 22782824 single base substitution T A intron_variant LUSC-KR 1 22783865 22783865 single base substitution A G intron_variant LUSC-KR 1 22788092 22788092 single base substitution C T intron_variant LUSC-KR 1 22805988 22805988 single base substitution C G intron_variant LUSC-KR 1 22809526 22809526 single base substitution C T intron_variant LUSC-KR 1 22815314 22815314 single base substitution G A intron_variant LUSC-KR 1 22817865 22817865 single base substitution G T intron_variant LUSC-KR 1 22820326 22820326 single base substitution C T intron_variant LUSC-KR 1 22822151 22822151 single base substitution C T intron_variant LUSC-KR 1 22828855 22828855 single base substitution A G intron_variant LUSC-KR 1 22828855 22828855 single base substitution A G missense_variant Q363R 1088A>G LUSC-KR 1 22834985 22834985 single base substitution A G downstream_gene_variant LUSC-KR 1 22834985 22834985 single base substitution A G intron_variant LUSC-KR 1 22843998 22843998 single base substitution T G intron_variant LUSC-KR 1 22846434 22846434 single base substitution C T intron_variant LUSC-KR 1 22849134 22849134 single base substitution G T intron_variant LUSC-KR 1 22850585 22850585 single base substitution T C intron_variant LUSC-KR 1 22853229 22853229 single base substitution G C 3_prime_UTR_variant LUSC-KR 1 22853854 22853854 single base substitution T G 3_prime_UTR_variant LUSC-KR 1 22853909 22853909 single base substitution A T 3_prime_UTR_variant LUSC-KR 1 22853909 22853909 single base substitution A T downstream_gene_variant LUSC-KR 1 22854070 22854070 single base substitution A G 3_prime_UTR_variant LUSC-KR 1 22854070 22854070 single base substitution A G downstream_gene_variant LUSC-KR 1 22855533 22855533 single base substitution C T 3_prime_UTR_variant LUSC-KR 1 22855533 22855533 single base substitution C T downstream_gene_variant LUSC-KR 1 22856107 22856107 single base substitution G T 3_prime_UTR_variant LUSC-KR 1 22856107 22856107 single base substitution G T downstream_gene_variant LUSC-KR 1 22856108 22856108 single base substitution G T 3_prime_UTR_variant LUSC-KR 1 22856108 22856108 single base substitution G T downstream_gene_variant LUSC-KR 1 22856339 22856339 single base substitution G A 3_prime_UTR_variant LUSC-KR 1 22856339 22856339 single base substitution G A downstream_gene_variant LUSC-US 1 22816893 22816893 single base substitution C G missense_variant S151C 452C>G LUSC-US 1 22846715 22846715 single base substitution A C missense_variant T887P 2659A>C LUSC-US 1 22846715 22846715 single base substitution A C missense_variant T999P 2995A>C MALY-DE 1 22776359 22776359 single base substitution C G upstream_gene_variant MALY-DE 1 22777979 22777979 deletion of <=200bp A - upstream_gene_variant MALY-DE 1 22781992 22781992 single base substitution C T intron_variant MALY-DE 1 22809632 22809632 single base substitution T C intron_variant MALY-DE 1 22819485 22819485 single base substitution A T intron_variant MALY-DE 1 22821401 22821401 single base substitution G A intron_variant MALY-DE 1 22829155 22829155 single base substitution G T intron_variant MALY-DE 1 22833067 22833067 single base substitution G A downstream_gene_variant MALY-DE 1 22833067 22833067 single base substitution G A intron_variant MALY-DE 1 22836393 22836393 single base substitution A C downstream_gene_variant MALY-DE 1 22836393 22836393 single base substitution A C intron_variant MALY-DE 1 22837548 22837548 single base substitution A C downstream_gene_variant MALY-DE 1 22837548 22837548 single base substitution A C intron_variant MALY-DE 1 22838224 22838224 insertion of <=200bp - AC frameshift_variant F574L? MALY-DE 1 22838224 22838224 insertion of <=200bp - AC frameshift_variant F686L? MELA-AU 1 22773523 22773523 single base substitution G A upstream_gene_variant MELA-AU 1 22773585 22773585 single base substitution G C upstream_gene_variant MELA-AU 1 22773671 22773671 single base substitution C T upstream_gene_variant MELA-AU 1 22773775 22773776 multiple base substitution (>=2bp and <=200bp) GG AA upstream_gene_variant MELA-AU 1 22773781 22773781 single base substitution G A upstream_gene_variant MELA-AU 1 22774101 22774101 single base substitution C T upstream_gene_variant MELA-AU 1 22774288 22774288 single base substitution C T upstream_gene_variant MELA-AU 1 22774520 22774520 single base substitution C T upstream_gene_variant MELA-AU 1 22774768 22774768 single base substitution G A upstream_gene_variant MELA-AU 1 22775374 22775374 single base substitution C T upstream_gene_variant MELA-AU 1 22775466 22775466 single base substitution C T upstream_gene_variant MELA-AU 1 22775564 22775564 single base substitution C T upstream_gene_variant MELA-AU 1 22775953 22775953 single base substitution T A upstream_gene_variant MELA-AU 1 22776109 22776109 single base substitution G C upstream_gene_variant MELA-AU 1 22776472 22776472 single base substitution C T upstream_gene_variant MELA-AU 1 22777101 22777101 single base substitution G A upstream_gene_variant MELA-AU 1 22777602 22777602 single base substitution C T upstream_gene_variant MELA-AU 1 22778182 22778182 single base substitution G A upstream_gene_variant MELA-AU 1 22778189 22778189 single base substitution G A upstream_gene_variant MELA-AU 1 22778481 22778481 single base substitution G A 5_prime_UTR_variant MELA-AU 1 22778908 22778908 single base substitution C T intron_variant MELA-AU 1 22779065 22779065 single base substitution G A intron_variant MELA-AU 1 22779486 22779486 single base substitution G T intron_variant MELA-AU 1 22779632 22779633 multiple base substitution (>=2bp and <=200bp) CC TT intron_variant MELA-AU 1 22779882 22779882 single base substitution G A intron_variant MELA-AU 1 22779931 22779931 single base substitution T C intron_variant MELA-AU 1 22780654 22780654 single base substitution C T intron_variant MELA-AU 1 22781856 22781856 single base substitution C T intron_variant MELA-AU 1 22782813 22782813 single base substitution C T intron_variant MELA-AU 1 22782959 22782959 single base substitution C T intron_variant MELA-AU 1 22783241 22783241 single base substitution A G intron_variant MELA-AU 1 22783523 22783523 single base substitution G A intron_variant MELA-AU 1 22784629 22784629 single base substitution C T intron_variant MELA-AU 1 22784985 22784985 single base substitution C T intron_variant MELA-AU 1 22786160 22786160 single base substitution C T intron_variant MELA-AU 1 22786165 22786165 single base substitution C T intron_variant MELA-AU 1 22786979 22786979 single base substitution C T intron_variant MELA-AU 1 22787817 22787817 single base substitution C T intron_variant MELA-AU 1 22788612 22788612 single base substitution A C intron_variant MELA-AU 1 22788998 22788998 single base substitution C T intron_variant MELA-AU 1 22789337 22789337 single base substitution C T intron_variant MELA-AU 1 22790694 22790694 single base substitution T C intron_variant MELA-AU 1 22790875 22790875 single base substitution C T intron_variant MELA-AU 1 22791041 22791041 single base substitution C T intron_variant MELA-AU 1 22791085 22791085 single base substitution C T intron_variant MELA-AU 1 22791089 22791090 multiple base substitution (>=2bp and <=200bp) TT AG intron_variant MELA-AU 1 22791358 22791358 single base substitution C T intron_variant MELA-AU 1 22791614 22791614 single base substitution C T intron_variant MELA-AU 1 22791615 22791615 single base substitution C T intron_variant MELA-AU 1 22791616 22791616 single base substitution C T intron_variant MELA-AU 1 22791657 22791657 single base substitution C T intron_variant MELA-AU 1 22791942 22791942 single base substitution G A intron_variant MELA-AU 1 22792328 22792328 single base substitution C T intron_variant MELA-AU 1 22792559 22792560 multiple base substitution (>=2bp and <=200bp) CC TT intron_variant MELA-AU 1 22793012 22793012 single base substitution C T intron_variant MELA-AU 1 22793186 22793186 single base substitution G T intron_variant MELA-AU 1 22793234 22793235 multiple base substitution (>=2bp and <=200bp) CC TT intron_variant MELA-AU 1 22793274 22793274 single base substitution C T intron_variant MELA-AU 1 22793415 22793415 single base substitution C T intron_variant MELA-AU 1 22794384 22794384 single base substitution C T intron_variant MELA-AU 1 22794835 22794835 single base substitution C T intron_variant MELA-AU 1 22795638 22795638 single base substitution C T intron_variant MELA-AU 1 22795772 22795772 single base substitution G C intron_variant MELA-AU 1 22796259 22796259 single base substitution G A intron_variant MELA-AU 1 22796467 22796467 single base substitution C T intron_variant MELA-AU 1 22796987 22796987 single base substitution G A intron_variant MELA-AU 1 22798357 22798357 single base substitution G A intron_variant MELA-AU 1 22798588 22798588 single base substitution C T intron_variant MELA-AU 1 22798810 22798811 multiple base substitution (>=2bp and <=200bp) GG AA intron_variant MELA-AU 1 22800510 22800510 single base substitution C T intron_variant MELA-AU 1 22800556 22800556 single base substitution C T intron_variant MELA-AU 1 22800690 22800690 single base substitution C T intron_variant MELA-AU 1 22800983 22800983 single base substitution C A intron_variant MELA-AU 1 22801252 22801252 single base substitution G T intron_variant MELA-AU 1 22801319 22801319 single base substitution A G intron_variant MELA-AU 1 22801490 22801490 single base substitution T G intron_variant MELA-AU 1 22801979 22801979 single base substitution C T intron_variant MELA-AU 1 22802245 22802245 single base substitution C T intron_variant MELA-AU 1 22802821 22802821 single base substitution C T intron_variant MELA-AU 1 22802921 22802921 single base substitution C T intron_variant MELA-AU 1 22803006 22803006 single base substitution C T intron_variant MELA-AU 1 22803434 22803434 single base substitution G A intron_variant MELA-AU 1 22803591 22803591 single base substitution C T intron_variant MELA-AU 1 22803618 22803618 single base substitution C T intron_variant MELA-AU 1 22803962 22803962 single base substitution T C intron_variant MELA-AU 1 22804646 22804647 multiple base substitution (>=2bp and <=200bp) CC TC intron_variant MELA-AU 1 22804771 22804771 single base substitution C T intron_variant MELA-AU 1 22804975 22804975 single base substitution C T intron_variant MELA-AU 1 22804998 22804998 single base substitution C T intron_variant MELA-AU 1 22805396 22805396 single base substitution C T intron_variant MELA-AU 1 22805885 22805885 single base substitution C G intron_variant MELA-AU 1 22806316 22806316 single base substitution C T intron_variant MELA-AU 1 22806627 22806627 single base substitution G A intron_variant MELA-AU 1 22807238 22807238 single base substitution T C intron_variant MELA-AU 1 22807504 22807504 single base substitution C T intron_variant MELA-AU 1 22808079 22808079 single base substitution T C intron_variant MELA-AU 1 22808082 22808082 single base substitution G A intron_variant MELA-AU 1 22808310 22808310 single base substitution C T intron_variant MELA-AU 1 22808338 22808338 single base substitution A G intron_variant MELA-AU 1 22808933 22808933 single base substitution C A intron_variant MELA-AU 1 22809118 22809119 multiple base substitution (>=2bp and <=200bp) CC TT intron_variant MELA-AU 1 22810178 22810178 single base substitution C T intron_variant MELA-AU 1 22810213 22810213 single base substitution C T intron_variant MELA-AU 1 22811128 22811128 single base substitution C T intron_variant MELA-AU 1 22811218 22811218 single base substitution C T intron_variant MELA-AU 1 22811424 22811424 single base substitution G A intron_variant MELA-AU 1 22811777 22811777 single base substitution C T intron_variant MELA-AU 1 22812259 22812259 single base substitution C T intron_variant MELA-AU 1 22812477 22812477 single base substitution A G intron_variant MELA-AU 1 22812501 22812501 single base substitution C T intron_variant MELA-AU 1 22812652 22812652 single base substitution T C intron_variant MELA-AU 1 22812978 22812978 single base substitution C T intron_variant MELA-AU 1 22813022 22813022 single base substitution C T intron_variant MELA-AU 1 22813097 22813097 single base substitution C T intron_variant MELA-AU 1 22813331 22813331 single base substitution T G intron_variant MELA-AU 1 22813908 22813908 single base substitution C T intron_variant MELA-AU 1 22814160 22814160 single base substitution C T intron_variant MELA-AU 1 22814317 22814317 single base substitution G A intron_variant MELA-AU 1 22814411 22814411 single base substitution C T intron_variant MELA-AU 1 22814615 22814615 single base substitution C T intron_variant MELA-AU 1 22815044 22815044 single base substitution G T intron_variant MELA-AU 1 22815081 22815081 single base substitution G A intron_variant MELA-AU 1 22816089 22816089 single base substitution C T intron_variant MELA-AU 1 22817321 22817321 single base substitution A G intron_variant MELA-AU 1 22817381 22817381 single base substitution C T intron_variant MELA-AU 1 22818221 22818221 single base substitution A T intron_variant MELA-AU 1 22818232 22818232 single base substitution A C intron_variant MELA-AU 1 22818399 22818399 single base substitution G A intron_variant MELA-AU 1 22818944 22818944 single base substitution A G intron_variant MELA-AU 1 22818981 22818981 single base substitution C T intron_variant MELA-AU 1 22819275 22819275 single base substitution G A intron_variant MELA-AU 1 22819959 22819960 multiple base substitution (>=2bp and <=200bp) TC AA intron_variant MELA-AU 1 22821445 22821445 single base substitution C T intron_variant MELA-AU 1 22821726 22821727 multiple base substitution (>=2bp and <=200bp) CC TT intron_variant MELA-AU 1 22821727 22821727 single base substitution C T intron_variant MELA-AU 1 22821908 22821908 single base substitution C T intron_variant MELA-AU 1 22822112 22822112 single base substitution C T intron_variant MELA-AU 1 22823037 22823037 single base substitution C T intron_variant MELA-AU 1 22823589 22823589 single base substitution T G intron_variant MELA-AU 1 22823728 22823728 single base substitution T C intron_variant MELA-AU 1 22823791 22823791 single base substitution G A intron_variant MELA-AU 1 22824374 22824374 single base substitution C T intron_variant MELA-AU 1 22824669 22824669 single base substitution C T intron_variant MELA-AU 1 22825113 22825113 single base substitution C T intron_variant MELA-AU 1 22825309 22825309 single base substitution A G intron_variant MELA-AU 1 22825464 22825464 single base substitution C T intron_variant MELA-AU 1 22825721 22825721 single base substitution T C intron_variant MELA-AU 1 22826694 22826694 single base substitution T G intron_variant MELA-AU 1 22827435 22827435 single base substitution C T intron_variant MELA-AU 1 22827752 22827752 single base substitution G A intron_variant MELA-AU 1 22828222 22828224 multiple base substitution (>=2bp and <=200bp) GGA AAG intron_variant MELA-AU 1 22828441 22828441 single base substitution C T intron_variant MELA-AU 1 22828785 22828785 single base substitution C T intron_variant MELA-AU 1 22828785 22828785 single base substitution C T splice_region_variant MELA-AU 1 22828907 22828907 single base substitution G A intron_variant MELA-AU 1 22828907 22828907 single base substitution G A synonymous_variant E380E 1140G>A MELA-AU 1 22829233 22829234 multiple base substitution (>=2bp and <=200bp) CC TT intron_variant MELA-AU 1 22829767 22829767 single base substitution C T intron_variant MELA-AU 1 22830243 22830243 single base substitution C T intron_variant MELA-AU 1 22830301 22830301 single base substitution A G intron_variant MELA-AU 1 22830678 22830678 single base substitution T C intron_variant MELA-AU 1 22831773 22831773 single base substitution C T intron_variant MELA-AU 1 22832023 22832023 single base substitution T G intron_variant MELA-AU 1 22832270 22832270 single base substitution C T intron_variant MELA-AU 1 22832799 22832799 single base substitution C T downstream_gene_variant MELA-AU 1 22832799 22832799 single base substitution C T intron_variant MELA-AU 1 22832935 22832935 single base substitution T A downstream_gene_variant MELA-AU 1 22832935 22832935 single base substitution T A intron_variant MELA-AU 1 22833187 22833187 single base substitution C T downstream_gene_variant MELA-AU 1 22833187 22833187 single base substitution C T intron_variant MELA-AU 1 22833221 22833221 single base substitution A G downstream_gene_variant MELA-AU 1 22833221 22833221 single base substitution A G intron_variant MELA-AU 1 22833287 22833287 single base substitution C T downstream_gene_variant MELA-AU 1 22833287 22833287 single base substitution C T intron_variant MELA-AU 1 22833342 22833342 single base substitution G A downstream_gene_variant MELA-AU 1 22833342 22833342 single base substitution G A intron_variant MELA-AU 1 22833501 22833501 single base substitution C T downstream_gene_variant MELA-AU 1 22833501 22833501 single base substitution C T intron_variant MELA-AU 1 22833993 22833993 single base substitution C T downstream_gene_variant MELA-AU 1 22833993 22833993 single base substitution C T intron_variant MELA-AU 1 22834034 22834034 single base substitution C T downstream_gene_variant MELA-AU 1 22834034 22834034 single base substitution C T intron_variant MELA-AU 1 22834397 22834397 single base substitution C A downstream_gene_variant MELA-AU 1 22834397 22834397 single base substitution C A intron_variant MELA-AU 1 22834442 22834442 single base substitution T C downstream_gene_variant MELA-AU 1 22834442 22834442 single base substitution T C intron_variant MELA-AU 1 22834616 22834616 single base substitution C T downstream_gene_variant MELA-AU 1 22834616 22834616 single base substitution C T missense_variant P383S 1147C>T MELA-AU 1 22834616 22834616 single base substitution C T missense_variant P495S 1483C>T MELA-AU 1 22835087 22835087 single base substitution T C downstream_gene_variant MELA-AU 1 22835087 22835087 single base substitution T C missense_variant V409A 1226T>C MELA-AU 1 22835087 22835087 single base substitution T C missense_variant V521A 1562T>C MELA-AU 1 22835220 22835220 single base substitution G A downstream_gene_variant MELA-AU 1 22835220 22835220 single base substitution G A synonymous_variant R453R 1359G>A MELA-AU 1 22835220 22835220 single base substitution G A synonymous_variant R565R 1695G>A MELA-AU 1 22835463 22835463 single base substitution C T downstream_gene_variant MELA-AU 1 22835463 22835463 single base substitution C T intron_variant MELA-AU 1 22835582 22835582 single base substitution C T downstream_gene_variant MELA-AU 1 22835582 22835582 single base substitution C T intron_variant MELA-AU 1 22835684 22835684 single base substitution C T downstream_gene_variant MELA-AU 1 22835684 22835684 single base substitution C T synonymous_variant L485L 1455C>T MELA-AU 1 22835684 22835684 single base substitution C T synonymous_variant L597L 1791C>T MELA-AU 1 22835694 22835694 single base substitution G A downstream_gene_variant MELA-AU 1 22835694 22835694 single base substitution G A missense_variant E489K 1465G>A MELA-AU 1 22835694 22835694 single base substitution G A missense_variant E601K 1801G>A MELA-AU 1 22835851 22835851 single base substitution C T downstream_gene_variant MELA-AU 1 22835851 22835851 single base substitution C T intron_variant MELA-AU 1 22836377 22836377 single base substitution C T downstream_gene_variant MELA-AU 1 22836377 22836377 single base substitution C T intron_variant MELA-AU 1 22836634 22836634 single base substitution G A downstream_gene_variant MELA-AU 1 22836634 22836634 single base substitution G A intron_variant MELA-AU 1 22836861 22836861 single base substitution T A downstream_gene_variant MELA-AU 1 22836861 22836861 single base substitution T A intron_variant MELA-AU 1 22837309 22837309 single base substitution C T downstream_gene_variant MELA-AU 1 22837309 22837309 single base substitution C T intron_variant MELA-AU 1 22837393 22837393 single base substitution T G downstream_gene_variant MELA-AU 1 22837393 22837393 single base substitution T G intron_variant MELA-AU 1 22837519 22837520 multiple base substitution (>=2bp and <=200bp) CC TT downstream_gene_variant MELA-AU 1 22837519 22837520 multiple base substitution (>=2bp and <=200bp) CC TT intron_variant MELA-AU 1 22837973 22837973 single base substitution C T intron_variant MELA-AU 1 22838032 22838033 multiple base substitution (>=2bp and <=200bp) GG AC intron_variant MELA-AU 1 22838276 22838276 single base substitution C T stop_gained Q592* 1774C>T MELA-AU 1 22838276 22838276 single base substitution C T stop_gained Q704* 2110C>T MELA-AU 1 22838777 22838777 single base substitution G A intron_variant MELA-AU 1 22839062 22839062 single base substitution C T intron_variant MELA-AU 1 22839200 22839200 single base substitution C T intron_variant MELA-AU 1 22839411 22839411 single base substitution C T splice_region_variant MELA-AU 1 22839936 22839936 single base substitution A T intron_variant MELA-AU 1 22839937 22839937 single base substitution A G intron_variant MELA-AU 1 22839938 22839938 single base substitution G A intron_variant MELA-AU 1 22840618 22840619 multiple base substitution (>=2bp and <=200bp) GG AA intron_variant MELA-AU 1 22840922 22840922 single base substitution T G intron_variant MELA-AU 1 22841077 22841077 single base substitution C T intron_variant MELA-AU 1 22841113 22841113 single base substitution C T intron_variant MELA-AU 1 22841249 22841249 single base substitution C T intron_variant MELA-AU 1 22841824 22841824 single base substitution G A intron_variant MELA-AU 1 22841988 22841988 single base substitution C T intron_variant MELA-AU 1 22842827 22842827 single base substitution C T intron_variant MELA-AU 1 22842929 22842929 single base substitution C T intron_variant MELA-AU 1 22843378 22843378 single base substitution C T intron_variant MELA-AU 1 22843470 22843470 single base substitution G A intron_variant MELA-AU 1 22843558 22843558 single base substitution C T intron_variant MELA-AU 1 22844101 22844101 single base substitution C T intron_variant MELA-AU 1 22844466 22844466 single base substitution C T intron_variant MELA-AU 1 22844575 22844575 single base substitution C T intron_variant MELA-AU 1 22844575 22844576 multiple base substitution (>=2bp and <=200bp) CC TT intron_variant MELA-AU 1 22844971 22844971 single base substitution A G intron_variant MELA-AU 1 22845654 22845654 single base substitution A T intron_variant MELA-AU 1 22845731 22845731 single base substitution T A intron_variant MELA-AU 1 22845828 22845828 single base substitution C T intron_variant MELA-AU 1 22845988 22845990 deletion of <=200bp CTA - intron_variant MELA-AU 1 22846117 22846117 single base substitution C T intron_variant MELA-AU 1 22846565 22846565 single base substitution C T missense_variant P837S 2509C>T MELA-AU 1 22846565 22846565 single base substitution C T missense_variant P949S 2845C>T MELA-AU 1 22846799 22846799 single base substitution C T intron_variant MELA-AU 1 22847032 22847032 single base substitution C T intron_variant MELA-AU 1 22847064 22847064 single base substitution G A intron_variant MELA-AU 1 22847529 22847529 single base substitution T A intron_variant MELA-AU 1 22847748 22847748 single base substitution G A intron_variant MELA-AU 1 22847764 22847765 multiple base substitution (>=2bp and <=200bp) CC TT intron_variant MELA-AU 1 22847836 22847836 single base substitution C T intron_variant MELA-AU 1 22848094 22848094 single base substitution G A missense_variant D1052N 3154G>A MELA-AU 1 22848094 22848094 single base substitution G A missense_variant D940N 2818G>A MELA-AU 1 22848205 22848206 multiple base substitution (>=2bp and <=200bp) CC TT intron_variant MELA-AU 1 22848292 22848292 single base substitution C T intron_variant MELA-AU 1 22848448 22848448 single base substitution C T intron_variant MELA-AU 1 22848582 22848582 single base substitution C T intron_variant MELA-AU 1 22848598 22848598 single base substitution C T intron_variant MELA-AU 1 22848674 22848674 single base substitution C T intron_variant MELA-AU 1 22848944 22848944 single base substitution T G missense_variant C1096G 3286T>G MELA-AU 1 22848944 22848944 single base substitution T G missense_variant C984G 2950T>G MELA-AU 1 22849303 22849304 multiple base substitution (>=2bp and <=200bp) GC TT intron_variant MELA-AU 1 22849539 22849539 single base substitution C T intron_variant MELA-AU 1 22850179 22850179 single base substitution C T intron_variant MELA-AU 1 22850598 22850598 single base substitution C T intron_variant MELA-AU 1 22850604 22850604 single base substitution C T intron_variant MELA-AU 1 22851172 22851172 single base substitution C T intron_variant MELA-AU 1 22851179 22851179 single base substitution C T intron_variant MELA-AU 1 22851433 22851433 single base substitution C T intron_variant MELA-AU 1 22851580 22851614 deletion of <=200bp CAGTTCCAGATCAGTCATTTATAAACCAGGTTCTT - intron_variant MELA-AU 1 22851653 22851653 single base substitution G A intron_variant MELA-AU 1 22852706 22852706 single base substitution C T synonymous_variant T1067T 3201C>T MELA-AU 1 22852706 22852706 single base substitution C T synonymous_variant T1179T 3537C>T MELA-AU 1 22852823 22852823 single base substitution C T synonymous_variant L1106L 3318C>T MELA-AU 1 22852823 22852823 single base substitution C T synonymous_variant L1218L 3654C>T MELA-AU 1 22852963 22852963 single base substitution C T 3_prime_UTR_variant MELA-AU 1 22853383 22853384 multiple base substitution (>=2bp and <=200bp) CC GT 3_prime_UTR_variant MELA-AU 1 22853446 22853446 single base substitution C T 3_prime_UTR_variant MELA-AU 1 22854068 22854068 single base substitution C T 3_prime_UTR_variant MELA-AU 1 22854068 22854068 single base substitution C T downstream_gene_variant MELA-AU 1 22854098 22854098 single base substitution G A 3_prime_UTR_variant MELA-AU 1 22854098 22854098 single base substitution G A downstream_gene_variant MELA-AU 1 22854147 22854147 single base substitution C T 3_prime_UTR_variant MELA-AU 1 22854147 22854147 single base substitution C T downstream_gene_variant MELA-AU 1 22854420 22854420 single base substitution G A 3_prime_UTR_variant MELA-AU 1 22854420 22854420 single base substitution G A downstream_gene_variant MELA-AU 1 22854431 22854431 single base substitution C T 3_prime_UTR_variant MELA-AU 1 22854431 22854431 single base substitution C T downstream_gene_variant MELA-AU 1 22854753 22854753 single base substitution C T 3_prime_UTR_variant MELA-AU 1 22854753 22854753 single base substitution C T downstream_gene_variant MELA-AU 1 22854866 22854866 single base substitution T C 3_prime_UTR_variant MELA-AU 1 22854866 22854866 single base substitution T C downstream_gene_variant MELA-AU 1 22855642 22855642 single base substitution C T 3_prime_UTR_variant MELA-AU 1 22855642 22855642 single base substitution C T downstream_gene_variant MELA-AU 1 22855708 22855708 single base substitution C T 3_prime_UTR_variant MELA-AU 1 22855708 22855708 single base substitution C T downstream_gene_variant MELA-AU 1 22856239 22856239 single base substitution C T 3_prime_UTR_variant MELA-AU 1 22856239 22856239 single base substitution C T downstream_gene_variant MELA-AU 1 22856360 22856360 single base substitution C T 3_prime_UTR_variant MELA-AU 1 22856360 22856360 single base substitution C T downstream_gene_variant MELA-AU 1 22856688 22856688 single base substitution A C 3_prime_UTR_variant MELA-AU 1 22856688 22856688 single base substitution A C downstream_gene_variant MELA-AU 1 22857192 22857192 single base substitution T C 3_prime_UTR_variant MELA-AU 1 22857192 22857192 single base substitution T C downstream_gene_variant MELA-AU 1 22857288 22857288 single base substitution C G 3_prime_UTR_variant MELA-AU 1 22857288 22857288 single base substitution C G downstream_gene_variant MELA-AU 1 22857877 22857877 single base substitution G A downstream_gene_variant MELA-AU 1 22857951 22857951 single base substitution A T downstream_gene_variant MELA-AU 1 22858631 22858631 single base substitution G A downstream_gene_variant MELA-AU 1 22858735 22858735 single base substitution C T downstream_gene_variant MELA-AU 1 22859093 22859093 single base substitution C T downstream_gene_variant MELA-AU 1 22859257 22859257 single base substitution C T downstream_gene_variant MELA-AU 1 22859318 22859318 single base substitution G A downstream_gene_variant MELA-AU 1 22859463 22859463 single base substitution C T downstream_gene_variant MELA-AU 1 22859474 22859474 single base substitution C T downstream_gene_variant MELA-AU 1 22860157 22860157 single base substitution C T downstream_gene_variant MELA-AU 1 22860485 22860485 single base substitution T C downstream_gene_variant MELA-AU 1 22860595 22860595 single base substitution C T downstream_gene_variant MELA-AU 1 22860729 22860729 single base substitution C T downstream_gene_variant MELA-AU 1 22861005 22861005 single base substitution C T downstream_gene_variant MELA-AU 1 22861332 22861332 single base substitution C T downstream_gene_variant MELA-AU 1 22861433 22861433 single base substitution C T downstream_gene_variant MELA-AU 1 22861580 22861580 single base substitution A T downstream_gene_variant MELA-AU 1 22861805 22861805 single base substitution G A downstream_gene_variant MELA-AU 1 22861994 22861994 single base substitution C T downstream_gene_variant MELA-AU 1 22862339 22862339 single base substitution C T downstream_gene_variant MELA-AU 1 22862351 22862351 single base substitution C T downstream_gene_variant ORCA-IN 1 22805018 22805018 single base substitution C T intron_variant ORCA-IN 1 22817898 22817898 single base substitution G T stop_gained E235* 703G>T ORCA-IN 1 22838285 22838285 single base substitution G A missense_variant E595K 1783G>A ORCA-IN 1 22838285 22838285 single base substitution G A missense_variant E707K 2119G>A ORCA-IN 1 22846738 22846738 single base substitution C A missense_variant F1006L 3018C>A ORCA-IN 1 22846738 22846738 single base substitution C A missense_variant F894L 2682C>A ORCA-IN 1 22853861 22853861 single base substitution C T 3_prime_UTR_variant ORCA-IN 1 22853861 22853861 single base substitution C T downstream_gene_variant OV-AU 1 22783741 22783741 single base substitution A G intron_variant OV-AU 1 22787042 22787042 single base substitution G C intron_variant OV-AU 1 22797567 22797567 single base substitution G A intron_variant OV-AU 1 22800011 22800011 single base substitution C G intron_variant OV-AU 1 22802128 22802128 single base substitution T C intron_variant OV-AU 1 22805125 22805125 single base substitution C T intron_variant OV-AU 1 22810281 22810281 single base substitution G A intron_variant OV-AU 1 22810913 22810913 single base substitution G T intron_variant OV-AU 1 22816167 22816167 single base substitution A G intron_variant OV-AU 1 22816965 22816965 single base substitution C G missense_variant T175S 524C>G OV-AU 1 22818349 22818349 single base substitution T G intron_variant OV-AU 1 22821809 22821809 single base substitution A G intron_variant OV-AU 1 22822761 22822761 single base substitution T G intron_variant OV-AU 1 22837138 22837138 single base substitution C A downstream_gene_variant OV-AU 1 22837138 22837138 single base substitution C A intron_variant OV-AU 1 22838566 22838566 single base substitution G T missense_variant K688N 2064G>T OV-AU 1 22838566 22838566 single base substitution G T missense_variant K800N 2400G>T OV-AU 1 22839134 22839134 single base substitution G C intron_variant OV-AU 1 22849269 22849269 single base substitution T A intron_variant OV-AU 1 22853026 22853026 single base substitution G T 3_prime_UTR_variant OV-AU 1 22853644 22853644 single base substitution T C 3_prime_UTR_variant PACA-AU 1 22775933 22775933 single base substitution C A upstream_gene_variant PACA-AU 1 22780704 22780704 single base substitution C T intron_variant PACA-AU 1 22793888 22793888 single base substitution G C intron_variant PACA-AU 1 22798683 22798683 single base substitution T G intron_variant PACA-AU 1 22798866 22798866 single base substitution C T intron_variant PACA-AU 1 22810507 22810507 single base substitution C T intron_variant PACA-AU 1 22817512 22817512 single base substitution C A intron_variant PACA-AU 1 22817958 22817958 single base substitution C T missense_variant L255F 763C>T PACA-AU 1 22820645 22820645 single base substitution G A intron_variant PACA-AU 1 22825279 22825279 deletion of <=200bp G - intron_variant PACA-AU 1 22826702 22826702 single base substitution C T intron_variant PACA-AU 1 22830190 22830190 single base substitution T A intron_variant PACA-AU 1 22843732 22843732 single base substitution T C intron_variant PACA-AU 1 22847851 22847851 single base substitution C T intron_variant PACA-AU 1 22852391 22852391 single base substitution G A intron_variant PACA-AU 1 22852553 22852553 single base substitution C T intron_variant PACA-AU 1 22856958 22856958 single base substitution C A 3_prime_UTR_variant PACA-AU 1 22856958 22856958 single base substitution C A downstream_gene_variant PACA-CA 1 22775117 22775117 single base substitution G C upstream_gene_variant PACA-CA 1 22789355 22789355 single base substitution T A intron_variant PACA-CA 1 22790114 22790114 single base substitution C T intron_variant PACA-CA 1 22802186 22802186 single base substitution T G intron_variant PACA-CA 1 22804898 22804898 single base substitution G A intron_variant PACA-CA 1 22808575 22808575 single base substitution T C intron_variant PACA-CA 1 22809680 22809680 single base substitution G T intron_variant PACA-CA 1 22823403 22823403 single base substitution T A intron_variant PACA-CA 1 22830104 22830104 single base substitution G A intron_variant PACA-CA 1 22832187 22832187 single base substitution G A intron_variant PACA-CA 1 22835218 22835218 single base substitution C T downstream_gene_variant PACA-CA 1 22835218 22835218 single base substitution C T missense_variant R453W 1357C>T PACA-CA 1 22835218 22835218 single base substitution C T missense_variant R565W 1693C>T PACA-CA 1 22838422 22838422 single base substitution G A synonymous_variant K640K 1920G>A PACA-CA 1 22838422 22838422 single base substitution G A synonymous_variant K752K 2256G>A PACA-CA 1 22838492 22838492 single base substitution G A missense_variant D664N 1990G>A PACA-CA 1 22838492 22838492 single base substitution G A missense_variant D776N 2326G>A PACA-CA 1 22838659 22838659 single base substitution G A intron_variant PACA-CA 1 22838664 22838664 single base substitution T A intron_variant PACA-CA 1 22843835 22843835 single base substitution A G missense_variant Q792R 2375A>G PACA-CA 1 22843835 22843835 single base substitution A G missense_variant Q904R 2711A>G PACA-CA 1 22846937 22846937 single base substitution G A intron_variant PACA-CA 1 22847819 22847819 single base substitution C T intron_variant PACA-CA 1 22850839 22850839 single base substitution C A missense_variant L1031I 3091C>A PACA-CA 1 22850839 22850839 single base substitution C A missense_variant L1143I 3427C>A PACA-CA 1 22851760 22851760 single base substitution T C intron_variant PACA-CA 1 22857956 22857956 single base substitution C T downstream_gene_variant PACA-CA 1 22860404 22860435 deletion of <=200bp TGGCACATCAGGTGCCTGATTGCACAGGTATG - downstream_gene_variant PACA-CA 1 22862176 22862176 single base substitution C A downstream_gene_variant PAEN-AU 1 22778975 22778975 single base substitution C T intron_variant PAEN-AU 1 22825563 22825563 single base substitution T A intron_variant PAEN-AU 1 22851184 22851184 single base substitution G A intron_variant PAEN-AU 1 22855718 22855718 single base substitution A G 3_prime_UTR_variant PAEN-AU 1 22855718 22855718 single base substitution A G downstream_gene_variant PAEN-IT 1 22788142 22788142 single base substitution A G intron_variant PAEN-IT 1 22822631 22822631 single base substitution C A intron_variant PAEN-IT 1 22827429 22827429 single base substitution C A intron_variant PBCA-DE 1 22790455 22790455 single base substitution A C intron_variant PBCA-DE 1 22807090 22807090 single base substitution G A intron_variant PBCA-DE 1 22830105 22830106 deletion of <=200bp CA - intron_variant PRAD-CA 1 22807808 22807808 single base substitution C T intron_variant PRAD-CA 1 22816068 22816068 single base substitution G A intron_variant PRAD-CA 1 22823751 22823751 single base substitution G A intron_variant PRAD-CA 1 22825425 22825425 single base substitution A G intron_variant PRAD-CA 1 22835479 22835479 single base substitution G T downstream_gene_variant PRAD-CA 1 22835479 22835479 single base substitution G T intron_variant PRAD-CA 1 22845028 22845028 single base substitution C G intron_variant PRAD-UK 1 22776986 22776986 single base substitution C A upstream_gene_variant PRAD-UK 1 22838956 22838956 single base substitution T C intron_variant PRAD-UK 1 22843825 22843825 single base substitution G T missense_variant V789L 2365G>T PRAD-UK 1 22843825 22843825 single base substitution G T missense_variant V901L 2701G>T PRAD-UK 1 22846138 22846138 single base substitution G T intron_variant PRAD-UK 1 22849120 22849120 single base substitution G T intron_variant PRAD-UK 1 22859941 22859941 single base substitution C T downstream_gene_variant READ-US 1 22838407 22838407 single base substitution C A missense_variant F635L 1905C>A READ-US 1 22838407 22838407 single base substitution C A missense_variant F747L 2241C>A RECA-EU 1 22777617 22777617 single base substitution T G upstream_gene_variant RECA-EU 1 22790789 22790789 single base substitution C G intron_variant RECA-EU 1 22794092 22794092 single base substitution T C intron_variant RECA-EU 1 22799949 22799949 single base substitution A T intron_variant RECA-EU 1 22809571 22809571 single base substitution C A intron_variant RECA-EU 1 22815975 22815975 single base substitution A T intron_variant RECA-EU 1 22820340 22820340 single base substitution C A intron_variant RECA-EU 1 22820591 22820591 single base substitution A C intron_variant RECA-EU 1 22822950 22822950 single base substitution G A intron_variant RECA-EU 1 22838344 22838344 single base substitution A G synonymous_variant S614S 1842A>G RECA-EU 1 22838344 22838344 single base substitution A G synonymous_variant S726S 2178A>G RECA-EU 1 22852679 22852679 single base substitution G A intron_variant RECA-EU 1 22853553 22853553 single base substitution A C 3_prime_UTR_variant RECA-EU 1 22861856 22861856 single base substitution C A downstream_gene_variant SKCA-BR 1 22775577 22775577 single base substitution G A upstream_gene_variant SKCA-BR 1 22784397 22784397 single base substitution C T intron_variant SKCA-BR 1 22784754 22784754 single base substitution C T intron_variant SKCA-BR 1 22787711 22787711 single base substitution G A intron_variant SKCA-BR 1 22787817 22787817 single base substitution C T intron_variant SKCA-BR 1 22788288 22788288 single base substitution C T intron_variant SKCA-BR 1 22788520 22788520 single base substitution T G intron_variant SKCA-BR 1 22791995 22791995 single base substitution C T intron_variant SKCA-BR 1 22794058 22794058 single base substitution C T intron_variant SKCA-BR 1 22794269 22794270 deletion of <=200bp GT - intron_variant SKCA-BR 1 22795560 22795560 single base substitution G A intron_variant SKCA-BR 1 22796191 22796191 single base substitution C T intron_variant SKCA-BR 1 22805665 22805665 single base substitution C T intron_variant SKCA-BR 1 22807074 22807074 single base substitution A C intron_variant SKCA-BR 1 22811409 22811409 single base substitution C T intron_variant SKCA-BR 1 22812978 22812978 single base substitution C T intron_variant SKCA-BR 1 22814367 22814367 single base substitution A C intron_variant SKCA-BR 1 22814410 22814410 single base substitution C T intron_variant SKCA-BR 1 22815570 22815570 single base substitution A G intron_variant SKCA-BR 1 22829433 22829433 single base substitution G T intron_variant SKCA-BR 1 22830150 22830150 single base substitution T C intron_variant SKCA-BR 1 22833239 22833239 single base substitution C T downstream_gene_variant SKCA-BR 1 22833239 22833239 single base substitution C T intron_variant SKCA-BR 1 22834985 22834985 single base substitution A G downstream_gene_variant SKCA-BR 1 22834985 22834985 single base substitution A G intron_variant SKCA-BR 1 22837806 22837806 single base substitution C T synonymous_variant G544G 1632C>T SKCA-BR 1 22837806 22837806 single base substitution C T synonymous_variant G656G 1968C>T SKCA-BR 1 22838766 22838766 single base substitution T G intron_variant SKCA-BR 1 22839086 22839086 single base substitution C T intron_variant SKCA-BR 1 22844187 22844187 single base substitution C T intron_variant SKCA-BR 1 22846385 22846385 single base substitution G T intron_variant SKCA-BR 1 22847186 22847186 single base substitution C T intron_variant SKCA-BR 1 22847660 22847660 single base substitution A G intron_variant SKCA-BR 1 22851583 22851583 single base substitution T C intron_variant SKCA-BR 1 22854586 22854586 single base substitution C T 3_prime_UTR_variant SKCA-BR 1 22854586 22854586 single base substitution C T downstream_gene_variant SKCA-BR 1 22857195 22857195 single base substitution A T 3_prime_UTR_variant SKCA-BR 1 22857195 22857195 single base substitution A T downstream_gene_variant SKCA-BR 1 22860358 22860358 single base substitution C T downstream_gene_variant SKCA-BR 1 22860823 22860823 single base substitution A G downstream_gene_variant SKCA-BR 1 22861754 22861754 single base substitution C T downstream_gene_variant SKCA-BR 1 22862351 22862351 single base substitution C T downstream_gene_variant SKCM-US 1 22816548 22816548 single base substitution G A missense_variant R36K 107G>A SKCM-US 1 22817048 22817048 single base substitution C T missense_variant P203S 607C>T SKCM-US 1 22828003 22828003 single base substitution G C intron_variant SKCM-US 1 22828003 22828003 single base substitution G C missense_variant E284Q 850G>C SKCM-US 1 22834550 22834550 single base substitution C T downstream_gene_variant SKCM-US 1 22834550 22834550 single base substitution C T missense_variant L361F 1081C>T SKCM-US 1 22834550 22834550 single base substitution C T missense_variant L473F 1417C>T SKCM-US 1 22834596 22834596 single base substitution C T downstream_gene_variant SKCM-US 1 22834596 22834596 single base substitution C T missense_variant S376L 1127C>T SKCM-US 1 22834596 22834596 single base substitution C T missense_variant S488L 1463C>T SKCM-US 1 22835087 22835087 single base substitution T C downstream_gene_variant SKCM-US 1 22835087 22835087 single base substitution T C missense_variant V409A 1226T>C SKCM-US 1 22835087 22835087 single base substitution T C missense_variant V521A 1562T>C SKCM-US 1 22835217 22835217 single base substitution C T downstream_gene_variant SKCM-US 1 22835217 22835217 single base substitution C T synonymous_variant F452F 1356C>T SKCM-US 1 22835217 22835217 single base substitution C T synonymous_variant F564F 1692C>T SKCM-US 1 22837755 22837755 single base substitution G A synonymous_variant P527P 1581G>A SKCM-US 1 22837755 22837755 single base substitution G A synonymous_variant P639P 1917G>A SKCM-US 1 22838270 22838270 single base substitution G A missense_variant D590N 1768G>A SKCM-US 1 22838270 22838270 single base substitution G A missense_variant D702N 2104G>A SKCM-US 1 22838343 22838343 single base substitution C T missense_variant S614L 1841C>T SKCM-US 1 22838343 22838343 single base substitution C T missense_variant S726L 2177C>T SKCM-US 1 22838356 22838356 single base substitution C T synonymous_variant D618D 1854C>T SKCM-US 1 22838356 22838356 single base substitution C T synonymous_variant D730D 2190C>T SKCM-US 1 22838541 22838541 single base substitution G A missense_variant G680D 2039G>A SKCM-US 1 22838541 22838541 single base substitution G A missense_variant G792D 2375G>A SKCM-US 1 22839521 22839521 single base substitution C T missense_variant R744C 2230C>T SKCM-US 1 22839521 22839521 single base substitution C T missense_variant R856C 2566C>T SKCM-US 1 22848016 22848016 single base substitution C T stop_gained R1026* 3076C>T SKCM-US 1 22848016 22848016 single base substitution C T stop_gained R914* 2740C>T SKCM-US 1 22848105 22848105 single base substitution C T synonymous_variant F1055F 3165C>T SKCM-US 1 22848105 22848105 single base substitution C T synonymous_variant F943F 2829C>T SKCM-US 1 22850861 22850861 single base substitution T A missense_variant L1038H 3113T>A SKCM-US 1 22850861 22850861 single base substitution T A missense_variant L1150H 3449T>A SKCM-US 1 22850879 22850879 single base substitution C T missense_variant S1044F 3131C>T SKCM-US 1 22850879 22850879 single base substitution C T missense_variant S1156F 3467C>T SKCM-US 1 22850922 22850922 single base substitution C T synonymous_variant A1058A 3174C>T SKCM-US 1 22850922 22850922 single base substitution C T synonymous_variant A1170A 3510C>T SKCM-US 1 22852732 22852732 single base substitution A G missense_variant Q1076R 3227A>G SKCM-US 1 22852732 22852732 single base substitution A G missense_variant Q1188R 3563A>G SKCM-US 1 22852806 22852806 single base substitution C T stop_gained Q1101* 3301C>T SKCM-US 1 22852806 22852806 single base substitution C T stop_gained Q1213* 3637C>T SKCM-US 1 22852823 22852823 single base substitution C T synonymous_variant L1106L 3318C>T SKCM-US 1 22852823 22852823 single base substitution C T synonymous_variant L1218L 3654C>T SKCM-US 1 22852861 22852861 single base substitution T G missense_variant V1119G 3356T>G SKCM-US 1 22852861 22852861 single base substitution T G missense_variant V1231G 3692T>G STAD-US 1 22816534 22816534 single base substitution T C synonymous_variant G31G 93T>C STAD-US 1 22816605 22816605 single base substitution A C missense_variant N55T 164A>C STAD-US 1 22816908 22816908 single base substitution A G missense_variant E156G 467A>G STAD-US 1 22817981 22817981 insertion of <=200bp - A frameshift_variant L262L? STAD-US 1 22828817 22828817 single base substitution G T intron_variant STAD-US 1 22828817 22828817 single base substitution G T missense_variant L350F 1050G>T STAD-US 1 22832620 22832620 single base substitution A G missense_variant T304A 910A>G STAD-US 1 22832620 22832620 single base substitution A G missense_variant T416A 1246A>G STAD-US 1 22837716 22837716 single base substitution G C downstream_gene_variant STAD-US 1 22837716 22837716 single base substitution G C synonymous_variant L514L 1542G>C STAD-US 1 22837716 22837716 single base substitution G C synonymous_variant L626L 1878G>C STAD-US 1 22838278 22838278 single base substitution G T missense_variant Q592H 1776G>T STAD-US 1 22838278 22838278 single base substitution G T missense_variant Q704H 2112G>T STAD-US 1 22839533 22839533 single base substitution G A missense_variant G748R 2242G>A STAD-US 1 22839533 22839533 single base substitution G A missense_variant G860R 2578G>A STAD-US 1 22843928 22843928 single base substitution G A missense_variant G823D 2468G>A STAD-US 1 22843928 22843928 single base substitution G A missense_variant G935D 2804G>A STAD-US 1 22848916 22848916 single base substitution G A synonymous_variant T1086T 3258G>A STAD-US 1 22848916 22848916 single base substitution G A synonymous_variant T974T 2922G>A THCA-SA 1 22854445 22854445 single base substitution C G 3_prime_UTR_variant THCA-SA 1 22854445 22854445 single base substitution C G downstream_gene_variant THCA-SA 1 22856643 22856643 single base substitution T A 3_prime_UTR_variant THCA-SA 1 22856643 22856643 single base substitution T A downstream_gene_variant THCA-US 1 22816958 22816958 single base substitution G T missense_variant A173S 517G>T UCEC-US 1 22816705 22816705 single base substitution C T synonymous_variant H88H 264C>T UCEC-US 1 22816927 22816927 single base substitution G A synonymous_variant E162E 486G>A UCEC-US 1 22817918 22817918 single base substitution G T synonymous_variant L241L 723G>T UCEC-US 1 22817991 22817991 single base substitution G A missense_variant E266K 796G>A UCEC-US 1 22828921 22828921 single base substitution G A intron_variant UCEC-US 1 22828921 22828921 single base substitution G A missense_variant G385D 1154G>A UCEC-US 1 22832590 22832590 single base substitution A C missense_variant N294H 880A>C UCEC-US 1 22832590 22832590 single base substitution A C missense_variant N406H 1216A>C UCEC-US 1 22832592 22832592 single base substitution T G missense_variant N294K 882T>G UCEC-US 1 22832592 22832592 single base substitution T G missense_variant N406K 1218T>G UCEC-US 1 22832622 22832622 single base substitution G A synonymous_variant T304T 912G>A UCEC-US 1 22832622 22832622 single base substitution G A synonymous_variant T416T 1248G>A UCEC-US 1 22835706 22835706 single base substitution C A downstream_gene_variant UCEC-US 1 22835706 22835706 single base substitution C A missense_variant L493M 1477C>A UCEC-US 1 22835706 22835706 single base substitution C A missense_variant L605M 1813C>A UCEC-US 1 22838267 22838267 single base substitution G T stop_gained E589* 1765G>T UCEC-US 1 22838267 22838267 single base substitution G T stop_gained E701* 2101G>T UCEC-US 1 22838340 22838340 single base substitution C T missense_variant A613V 1838C>T UCEC-US 1 22838340 22838340 single base substitution C T missense_variant A725V 2174C>T UCEC-US 1 22838599 22838599 single base substitution C A synonymous_variant L699L 2097C>A UCEC-US 1 22838599 22838599 single base substitution C A synonymous_variant L811L 2433C>A UCEC-US 1 22839448 22839448 single base substitution C T synonymous_variant F719F 2157C>T UCEC-US 1 22839448 22839448 single base substitution C T synonymous_variant F831F 2493C>T UCEC-US 1 22839610 22839610 single base substitution G T missense_variant K773N 2319G>T UCEC-US 1 22839610 22839610 single base substitution G T missense_variant K885N 2655G>T UCEC-US 1 22848120 22848120 single base substitution G A synonymous_variant E1060E 3180G>A UCEC-US 1 22848120 22848120 single base substitution G A synonymous_variant E948E 2844G>A UCEC-US 1 22850799 22850799 single base substitution G A synonymous_variant K1017K 3051G>A UCEC-US 1 22850799 22850799 single base substitution G A synonymous_variant K1129K 3387G>A UCEC-US 1 22850917 22850917 single base substitution G A missense_variant A1057T 3169G>A UCEC-US 1 22850917 22850917 single base substitution G A missense_variant A1169T 3505G>A

Mutation - COSMIC Sample Name Mutation ID Mutation CDS Mutation AA Mutation Description Mutation Genome Position Mutation Strand 46M COSM5589392 c.2877C>A p.F959L Substitution - Missense 1:22520104-22520104 + ICGC_0030 COSM1158943 c.1968C>T p.G656G Substitution - coding silent 1:22511313-22511313 + TCGA-EE-A2MF-06 COSM3484780 c.3654C>T p.L1218L Substitution - coding silent 1:22526330-22526330 + TCGA-EE-A29M-06 COSM3484442 c.2190C>T p.D730D Substitution - coding silent 1:22511863-22511863 + YURAY COSM5379921 c.2845C>T p.P949S Substitution - Missense 1:22520072-22520072 + TCGA-G4-6314-01 COSM3689395 c.1955A>G p.K652R Substitution - Missense 1:22511300-22511300 + LUAD-YINHD COSM349985 c.1850C>G p.S617C Substitution - Missense 1:22511195-22511195 + sysucc-657T COSM3746849 c.3546G>C p.P1182P Substitution - coding silent 1:22526222-22526222 + LUAD-QCHM7 COSM377093 c.472C>T p.H158Y Substitution - Missense 1:22490420-22490420 + TCGA-GM-A3NW-01 COSM5832508 c.3203delA p.E1068fs*5 Deletion - Frameshift 1:22521650-22521650 + S01366 COSM316642 c.2284delA p.K762fs*46 Deletion - Frameshift 1:22511957-22511957 + TCGA-AX-A0J1-01 COSM904944 c.1248G>A p.T416T Substitution - coding silent 1:22506129-22506129 + ASHPC_0029_Pa_P COSM3785181 c.2326G>A p.D776N Substitution - Missense 1:22511999-22511999 + PCSI_0090_Pa_X COSM3377013 c.2711A>G p.Q904R Substitution - Missense 1:22517342-22517342 + TCGA-BR-8370-01 COSM4028838 c.467A>G p.E156G Substitution - Missense 1:22490415-22490415 + BK0026 COSM4186518 c.1406A>C p.Y469S Substitution - Missense 1:22508046-22508046 + T2997 COSM1722971 c.2395_2397delAAG p.K803delK Deletion - In frame 1:22512068-22512070 + Pat_74_B COSM1722971 c.2395_2397delAAG p.K803delK Deletion - In frame 1:22512068-22512070 + 2521252 COSM5888642 c.1847C>T p.P616L Substitution - Missense 1:22511192-22511192 + TCGA-G3-A5SK-01 COSM4927506 c.3089C>A p.P1030H Substitution - Missense 1:22521536-22521536 + TCGA-EW-A1OV-01 COSM1473478 c.1066G>T p.E356* Substitution - Nonsense 1:22502340-22502340 + TCGA-BS-A0UV-01 COSM904926 c.796G>A p.E266K Substitution - Missense 1:22491498-22491498 + ESCC_133 COSM5642439 c.191C>T p.S64F Substitution - Missense 1:22490139-22490139 + 2492702 COSM5715525 c.2416C>T p.P806S Substitution - Missense 1:22512089-22512089 + CSCC-49-T COSM4483733 c.272C>T p.S91F Substitution - Missense 1:22490220-22490220 + TCGA-Q1-A73O-01 COSM4835533 c.1737G>C p.L579L Substitution - coding silent 1:22509137-22509137 + Pat_41_B COSM4560082 c.829G>A p.E277K Substitution - Missense 1:22491531-22491531 + TCGA-BR-8680-01 COSM4028836 c.93T>C p.G31G Substitution - coding silent 1:22490041-22490041 + 075T COSM1730609 c.3587A>T p.Q1196L Substitution - Missense 1:22526263-22526263 + TCGA-HU-A4GU-01 COSM4028998 c.2804G>A p.G935D Substitution - Missense 1:22517435-22517435 + TCGA-C5-A7CH-01 COSM4837780 c.3244G>C p.E1082Q Substitution - Missense 1:22522409-22522409 + TCGA-EK-A3GJ-01 COSM4852298 c.3407C>T p.P1136L Substitution - Missense 1:22524326-22524326 + 2492730 COSM5729537 c.2423C>T p.T808I Substitution - Missense 1:22512096-22512096 + LUAD-F00162 COSM365950 c.2868_2869GA>TT p.R956>? Complex 1:22520095-22520096 + TCGA-CD-A48C-01 COSM4028893 c.2112G>T p.Q704H Substitution - Missense 1:22511785-22511785 + Pat_24_A COSM1722971 c.2395_2397delAAG p.K803delK Deletion - In frame 1:22512068-22512070 + 0058_CRUK_PC_0058_T1_DNA COSM5420609 c.2701G>T p.V901L Substitution - Missense 1:22517332-22517332 + BD6T COSM5499475 c.786_787insA p.L265fs*8 Insertion - Frameshift 1:22491488-22491489 + TCGA-GD-A3OS-01 COSM1295955 c.2320A>T p.T774S Substitution - Missense 1:22511993-22511993 + TCGA-AA-A00N-01 COSM278187 c.2443G>A p.E815K Substitution - Missense 1:22512116-22512116 + TCGA-BR-6452-01 COSM4028860 c.1246A>G p.T416A Substitution - Missense 1:22506127-22506127 + SW48 COSM1962892 c.2604C>T p.H868H Substitution - coding silent 1:22513066-22513066 + Pat_74_A COSM1722971 c.2395_2397delAAG p.K803delK Deletion - In frame 1:22512068-22512070 + TCGA-AP-A05N-01 COSM905132 c.3387G>A p.K1129K Substitution - coding silent 1:22524306-22524306 + AOCS-106-1-1 COSM3943526 c.2400G>T p.K800N Substitution - Missense 1:22512073-22512073 + TCGA-BS-A0UM-01 COSM904923 c.264C>T p.H88H Substitution - coding silent 1:22490212-22490212 + TCGA-AX-A05Z-01 COSM904969 c.2493C>T p.F831F Substitution - coding silent 1:22512955-22512955 + ICGC_0052 COSM1159242 c.1453A>C p.K485Q Substitution - Missense 1:22508093-22508093 + TCGA-AC-A2B8-01 COSM3804162 c.1819G>A p.E607K Substitution - Missense 1:22509219-22509219 + PD7066a COSM5772270 c.3526G>T p.V1176L Substitution - Missense 1:22526202-22526202 + Pat_53_A COSM1722971 c.2395_2397delAAG p.K803delK Deletion - In frame 1:22512068-22512070 + Pat_04_A COSM1722971 c.2395_2397delAAG p.K803delK Deletion - In frame 1:22512068-22512070 + TCGA-IH-A3EA-01 COSM3484649 c.3076C>T p.R1026* Substitution - Nonsense 1:22521523-22521523 + TCGA-DK-A1A5-01 COSM414590 c.1099C>T p.Q367* Substitution - Nonsense 1:22502373-22502373 + CHEWS024 COSM4576978 c.2387A>C p.D796A Substitution - Missense 1:22512060-22512060 + 587238 COSM1233152 c.3521C>T p.A1174V Substitution - Missense 1:22524440-22524440 + TCGA-FW-A3R5-06 COSM3864614 c.1417C>T p.L473F Substitution - Missense 1:22508057-22508057 + HCC16 COSM1601780 c.579C>G p.A193A Substitution - coding silent 1:22490527-22490527 + 2492701 COSM5715525 c.2416C>T p.P806S Substitution - Missense 1:22512089-22512089 + TARGET-30-PASPER COSM1289010 c.389C>T p.S130F Substitution - Missense 1:22490337-22490337 + TCGA-DJ-A1QO-01 COSM3369568 c.517G>T p.A173S Substitution - Missense 1:22490465-22490465 + TCGA-BP-4976-01 COSM464077 c.902A>G p.E301G Substitution - Missense 1:22501562-22501562 + H1993 COSM1196818 c.3570C>G p.I1190M Substitution - Missense 1:22526246-22526246 + 5_PRE-TREATMENT COSM1722971 c.2395_2397delAAG p.K803delK Deletion - In frame 1:22512068-22512070 + TCGA-EE-A29L-06 COSM3484436 c.1562T>C p.V521A Substitution - Missense 1:22508594-22508594 + BCM375T COSM4951021 c.2726delC p.R910fs*3 Deletion - Frameshift 1:22517357-22517357 + Pat_53_B COSM1722971 c.2395_2397delAAG p.K803delK Deletion - In frame 1:22512068-22512070 + AOCS-093-1-9 COSM3943522 c.524C>G p.T175S Substitution - Missense 1:22490472-22490472 + TCGA-CJ-5682-01 COSM464086 c.2770A>G p.R924G Substitution - Missense 1:22517401-22517401 + sysucc-882T COSM5447019 c.1501A>C p.M501L Substitution - Missense 1:22508533-22508533 + 2521252 COSM1687166 c.1846C>T p.P616S Substitution - Missense 1:22511191-22511191 + 18 COSM5744660 c.3639G>T p.Q1213H Substitution - Missense 1:22526315-22526315 + TCGA-B5-A11E-01 COSM904924 c.486G>A p.E162E Substitution - coding silent 1:22490434-22490434 + TCGA-EE-A2MG-06 COSM3484400 c.607C>T p.P203S Substitution - Missense 1:22490555-22490555 + 1_RESISTANT COSM1721016 c.2943C>T p.P981P Substitution - coding silent 1:22520170-22520170 + Pat_26_A COSM1722971 c.2395_2397delAAG p.K803delK Deletion - In frame 1:22512068-22512070 + TCGA-IH-A3EA-01 COSM3484650 c.3165C>T p.F1055F Substitution - coding silent 1:22521612-22521612 + C0021T COSM4135992 c.2178A>G p.S726S Substitution - coding silent 1:22511851-22511851 + TCGA-FS-A1ZW-06 COSM3484778 c.3563A>G p.Q1188R Substitution - Missense 1:22526239-22526239 + TCGA-DK-A1A5-01 COSM414591 c.1052C>G p.S351C Substitution - Missense 1:22502326-22502326 + CSCC-47-T COSM4534587 c.2101G>A p.E701K Substitution - Missense 1:22511774-22511774 + TCGA-DA-A1I0-06 COSM3484441 c.2104G>A p.D702N Substitution - Missense 1:22511777-22511777 + CSCC-6-T COSM4477198 c.2131C>G p.Q711E Substitution - Missense 1:22511804-22511804 + ESCC_68 COSM5633756 c.84C>T p.I28I Substitution - coding silent 1:22490032-22490032 + 8047838 COSM3385808 c.763C>T p.L255F Substitution - Missense 1:22491465-22491465 + sysucc-1315T COSM4645125 c.3340C>T p.R1114C Substitution - Missense 1:22524259-22524259 + TCGA-AN-A0AK-01 COSM3804165 c.2589G>A p.P863P Substitution - coding silent 1:22513051-22513051 + TCGA-A8-A0A6-01 COSM3804164 c.2045T>G p.V682G Substitution - Missense 1:22511718-22511718 + CSCC-55-T COSM4492483 c.398C>T p.S133F Substitution - Missense 1:22490346-22490346 + Pat_41_B COSM5845710 c.1486G>A p.G496R Substitution - Missense 1:22508126-22508126 + 587284 COSM1233152 c.3521C>T p.A1174V Substitution - Missense 1:22524440-22524440 + ASHPC_0029_Pa_P COSM3785180 c.2256G>A p.K752K Substitution - coding silent 1:22511929-22511929 + PTC-7C COSM3746832 c.1784A>G p.Y595C Substitution - Missense 1:22509184-22509184 + TCGA-BC-A217-01 COSM4936780 c.11C>G p.P4R Substitution - Missense 1:22489959-22489959 + ESO-0590 COSM1270719 c.1761G>A p.E587E Substitution - coding silent 1:22509161-22509161 + HCC19T COSM1601838 c.3339C>A p.F1113L Substitution - Missense 1:22524258-22524258 + TCGA-EE-A2MR-06 COSM3484779 c.3637C>T p.Q1213* Substitution - Nonsense 1:22526313-22526313 + BK0004 COSM4185495 c.3101C>T p.A1034V Substitution - Missense 1:22521548-22521548 + S02360 COSM5695882 c.2151G>A p.L717L Substitution - coding silent 1:22511824-22511824 + TP_2060 COSM5568631 c.1800G>A p.S600S Substitution - coding silent 1:22509200-22509200 + TCGA-AP-A054-01 COSM905106 c.3180G>A p.E1060E Substitution - coding silent 1:22521627-22521627 + 1076-03-01TD COSM5418557 c.978A>G p.A326A Substitution - coding silent 1:22501638-22501638 + TCGA-D3-A2JF-06 COSM3484434 c.1463C>T p.S488L Substitution - Missense 1:22508103-22508103 + PCSI_0112_Pa_P COSM3785174 c.1130C>T p.T377I Substitution - Missense 1:22502404-22502404 + TCGA-EE-A2MR-06 COSM3484443 c.2375G>A p.G792D Substitution - Missense 1:22512048-22512048 + CSCC-7-T COSM4530393 c.1694G>T p.R565L Substitution - Missense 1:22508726-22508726 + TCGA-D9-A6EC-06 COSM4403741 c.3692T>G p.V1231G Substitution - Missense 1:22526368-22526368 + TCGA-22-5492-01 COSM679265 c.2995A>C p.T999P Substitution - Missense 1:22520222-22520222 + PD5945a COSM5785326 c.3153T>C p.C1051C Substitution - coding silent 1:22521600-22521600 + ESCC_BICR_038T COSM5434602 c.248delT p.L83fs*14 Deletion - Frameshift 1:22490196-22490196 + RK134_C01 COSM3700650 c.3411T>C p.C1137C Substitution - coding silent 1:22524330-22524330 + TCGA-D1-A103-01 COSM905133 c.3505G>A p.A1169T Substitution - Missense 1:22524424-22524424 + YUSCA COSM5379874 c.445C>T p.L149F Substitution - Missense 1:22490393-22490393 + TCGA-B5-A11E-01 COSM904967 c.2174C>T p.A725V Substitution - Missense 1:22511847-22511847 + TCGA-EE-A181-06 COSM3484780 c.3654C>T p.L1218L Substitution - coding silent 1:22526330-22526330 + TCGA-LL-A5YP-01 COSM3484780 c.3654C>T p.L1218L Substitution - coding silent 1:22526330-22526330 + TCGA-B5-A0JY-01 COSM904942 c.1216A>C p.N406H Substitution - Missense 1:22506097-22506097 + TCGA-EE-A3AG-06 COSM3484417 c.850G>C p.E284Q Substitution - Missense 1:22501510-22501510 + T2269 COSM3484780 c.3654C>T p.L1218L Substitution - coding silent 1:22526330-22526330 + 3206A7_017_T COSM5039577 c.2680G>A p.A894T Substitution - Missense 1:22517311-22517311 + 2492703 COSM5715525 c.2416C>T p.P806S Substitution - Missense 1:22512089-22512089 + YURIF COSM1687167 c.3374C>T p.T1125M Substitution - Missense 1:22524293-22524293 + TCGA-CA-6717-01 COSM1339894 c.828G>A p.K276K Substitution - coding silent 1:22491530-22491530 + PT36 COSM5914839 c.1585G>T p.A529S Substitution - Missense 1:22508617-22508617 + 6115114 COSM5553913 c.3129C>G p.F1043L Substitution - Missense 1:22521576-22521576 + ESO-913 COSM1270720 c.2497G>A p.E833K Substitution - Missense 1:22512959-22512959 + TCGA-F5-6814-01 COSM3418849 c.2241C>A p.F747L Substitution - Missense 1:22511914-22511914 + CHC205T COSM3746849 c.3546G>C p.P1182P Substitution - coding silent 1:22526222-22526222 + TCGA-21-5782-01 COSM679303 c.452C>G p.S151C Substitution - Missense 1:22490400-22490400 + sysucc-274T COSM1962746 c.1166G>A p.R389K Substitution - Missense 1:22502440-22502440 + 23 COSM5748405 c.2678A>G p.Y893C Substitution - Missense 1:22517309-22517309 + TCGA-BR-4201-01 COSM1962891 c.2578G>A p.G860R Substitution - Missense 1:22513040-22513040 + 587376 COSM1233153 c.3491C>T p.T1164M Substitution - Missense 1:22524410-22524410 + TCGA-BR-6802-01 COSM4029139 c.3258G>A p.T1086T Substitution - coding silent 1:22522423-22522423 + OSCC-GB_01060111 COSM4882546 c.703G>T p.E235* Substitution - Nonsense 1:22491405-22491405 + TCGA-D1-A17D-01 COSM904968 c.2433C>A p.L811L Substitution - coding silent 1:22512106-22512106 + LOVO COSM4645125 c.3340C>T p.R1114C Substitution - Missense 1:22524259-22524259 + TCGA-G3-A25U-01 COSM4910953 c.2505T>C p.P835P Substitution - coding silent 1:22512967-22512967 + 2217528 COSM1722971 c.2395_2397delAAG p.K803delK Deletion - In frame 1:22512068-22512070 + TCGA-G2-A3VY-01 COSM3789605 c.3580G>C p.E1194Q Substitution - Missense 1:22526256-22526256 + T3174 COSM4742169 c.2966delC p.P990fs*9 Deletion - Frameshift 1:22520193-22520193 + STC246 COSM3804165 c.2589G>A p.P863P Substitution - coding silent 1:22513051-22513051 + LUAD-YINHD COSM349987 c.2400G>C p.K800N Substitution - Missense 1:22512073-22512073 + TCGA-EE-A2MR-06 COSM3484731 c.3467C>T p.S1156F Substitution - Missense 1:22524386-22524386 + CSCC-19-T COSM4517449 c.345_346CC>TT p.L116F Substitution - Missense 1:22490293-22490294 + 18 COSM5744659 c.2144G>A p.G715D Substitution - Missense 1:22511817-22511817 + TCGA-AA-3695-01 COSM293439 c.855T>C p.G285G Substitution - coding silent 1:22501515-22501515 + TCGA-AP-A051-01 COSM904938 c.1154G>A p.G385D Substitution - Missense 1:22502428-22502428 + C086 COSM5541922 c.3476C>T p.P1159L Substitution - Missense 1:22524395-22524395 + Pat_26_B COSM1722971 c.2395_2397delAAG p.K803delK Deletion - In frame 1:22512068-22512070 + T2955 COSM1722971 c.2395_2397delAAG p.K803delK Deletion - In frame 1:22512068-22512070 + TCGA-13-0714-01 COSM78795 c.2297T>A p.V766E Substitution - Missense 1:22511970-22511970 + 2_PRE-TREATMENT COSM1722971 c.2395_2397delAAG p.K803delK Deletion - In frame 1:22512068-22512070 + PT24_1 COSM5904134 c.256G>A p.G86S Substitution - Missense 1:22490204-22490204 + TCGA-GN-A268-06 COSM3484738 c.3510C>T p.A1170A Substitution - coding silent 1:22524429-22524429 + CHC892T COSM4793669 c.2092G>A p.A698T Substitution - Missense 1:22511765-22511765 + YUPEET COSM1687165 c.1300C>T p.P434S Substitution - Missense 1:22506181-22506181 + CHC205T COSM3746831 c.1360+9A>T p.? Unknown 1:22506250-22506250 + H1155 COSM1195750 c.2246G>A p.C749Y Substitution - Missense 1:22511919-22511919 + T3658 COSM4742168 c.2768G>A p.C923Y Substitution - Missense 1:22517399-22517399 + AOCS-093-8-4 COSM3943522 c.524C>G p.T175S Substitution - Missense 1:22490472-22490472 + TCGA-28-5218-01 COSM3400378 c.1522G>T p.D508Y Substitution - Missense 1:22508554-22508554 + TCGA-E9-A1RI-01 COSM1473481 c.1767C>A p.I589I Substitution - coding silent 1:22509167-22509167 + TCGA-B5-A0JV-01 COSM904963 c.1813C>A p.L605M Substitution - Missense 1:22509213-22509213 + TCGA-BH-A18Q-01 COSM425500 c.1556C>G p.S519* Substitution - Nonsense 1:22508588-22508588 + Pat_04_B COSM1722971 c.2395_2397delAAG p.K803delK Deletion - In frame 1:22512068-22512070 + YUMOBER COSM5379884 c.2231G>A p.S744N Substitution - Missense 1:22511904-22511904 + PD9569a COSM5797764 c.2353C>T p.Q785* Substitution - Nonsense 1:22512026-22512026 + AOCS-093-3-6 COSM3943522 c.524C>G p.T175S Substitution - Missense 1:22490472-22490472 + T2991 COSM4742167 c.2249G>A p.R750H Substitution - Missense 1:22511922-22511922 + TCGA-AP-A0LM-01 COSM904943 c.1218T>G p.N406K Substitution - Missense 1:22506099-22506099 + HN_62426 COSM128515 c.2616C>G p.T872T Substitution - coding silent 1:22513078-22513078 + TCGA-A7-A26F-01 COSM5832497 c.641delC p.S216fs*26 Deletion - Frameshift 1:22490589-22490589 + TCGA-C8-A12U-01 COSM425501 c.2627C>T p.A876V Substitution - Missense 1:22513089-22513089 + 2492700 COSM5715525 c.2416C>T p.P806S Substitution - Missense 1:22512089-22512089 + TCGA-FG-A4MW-01 COSM3966335 c.3579G>A p.E1193E Substitution - coding silent 1:22526255-22526255 + sysucc-1163T COSM5458361 c.3535A>C p.T1179P Substitution - Missense 1:22526211-22526211 + LUAD-YINHD COSM349986 c.1936C>T p.L646F Substitution - Missense 1:22511281-22511281 + 23_FL COSM4170592 c.2556G>C p.K852N Substitution - Missense 1:22513018-22513018 + YUAKER COSM1687166 c.1846C>T p.P616S Substitution - Missense 1:22511191-22511191 + TCGA-IR-A3LI-01 COSM4846124 c.793C>G p.L265V Substitution - Missense 1:22491495-22491495 + TCGA-BT-A3PK-01 COSM3789571 c.54C>T p.C18C Substitution - coding silent 1:22490002-22490002 + CSCC-31-T COSM4481822 c.2547C>T p.S849S Substitution - coding silent 1:22513009-22513009 + CSCC-44-T COSM4447575 c.3211+3G>A p.? Unknown 1:22521661-22521661 + TCGA-CJ-4904-01 COSM464075 c.440A>C p.E147A Substitution - Missense 1:22490388-22490388 + 2492730 COSM5728355 c.484G>A p.E162K Substitution - Missense 1:22490432-22490432 + TCGA-D1-A17Q-01 COSM904966 c.2101G>T p.E701* Substitution - Nonsense 1:22511774-22511774 + 49M COSM5594019 c.3277C>T p.H1093Y Substitution - Missense 1:22522442-22522442 + CHC892T COSM4793669 c.2092G>A p.A698T Substitution - Missense 1:22511765-22511765 + 3 COSM1233152 c.3521C>T p.A1174V Substitution - Missense 1:22524440-22524440 + BD57T COSM5509671 c.2223C>T p.C741C Substitution - coding silent 1:22511896-22511896 + C135 COSM4610934 c.1159_1160insA p.R389fs*8 Insertion - Frameshift 1:22502433-22502434 + TCGA-BR-8297-01 COSM4028892 c.1878G>C p.L626L Substitution - coding silent 1:22511223-22511223 + TCGA-CM-6171-01 COSM1339901 c.2632G>A p.A878T Substitution - Missense 1:22513094-22513094 + LUAD-NYU1219 COSM369713 c.1341C>T p.A447A Substitution - coding silent 1:22506222-22506222 + TCGA-IR-A3LH-01 COSM1501371 c.755C>G p.S252* Substitution - Nonsense 1:22491457-22491457 + TCGA-A8-A0A6-01 COSM3804150 c.374T>G p.V125G Substitution - Missense 1:22490322-22490322 + OSCC-GB_00860111 COSM4885408 c.2119G>A p.E707K Substitution - Missense 1:22511792-22511792 + 585258 COSM324358 c.3302C>A p.S1101Y Substitution - Missense 1:22524221-22524221 + CSCC-7-T COSM4560082 c.829G>A p.E277K Substitution - Missense 1:22491531-22491531 + OSCC-GB_00570111 COSM4890049 c.3018C>A p.F1006L Substitution - Missense 1:22520245-22520245 + TCGA-DD-A4NS-01 COSM4926360 c.2019A>C p.E673D Substitution - Missense 1:22511692-22511692 + 46M COSM5589393 c.184G>A p.D62N Substitution - Missense 1:22490132-22490132 + ESCC_60 COSM5632663 c.1217A>G p.N406S Substitution - Missense 1:22506098-22506098 + HCC16T COSM1601780 c.579C>G p.A193A Substitution - coding silent 1:22490527-22490527 + SC_9058 COSM5570502 c.2946G>A p.T982T Substitution - coding silent 1:22520173-22520173 + TCGA-G4-6586-01 COSM1339904 c.3104C>A p.A1035D Substitution - Missense 1:22521551-22521551 + TCGA-FW-A3R5-06 COSM3864615 c.2177C>T p.S726L Substitution - Missense 1:22511850-22511850 + BCM375T COSM5348109 c.2728delC p.R910fs*3 Deletion - Frameshift 1:22517359-22517359 + 1_PRE-TREATMENT COSM1721016 c.2943C>T p.P981P Substitution - coding silent 1:22520170-22520170 + BD124T COSM1996077 c.3257C>T p.T1086M Substitution - Missense 1:22522422-22522422 + TCGA-G4-6588-01 COSM1339899 c.1622A>G p.E541G Substitution - Missense 1:22508654-22508654 + CSCC-27-T COSM4485351 c.2922C>T p.S974S Substitution - coding silent 1:22520149-22520149 + 8015858 COSM1159242 c.1453A>C p.K485Q Substitution - Missense 1:22508093-22508093 + 5_RESISTANT COSM1722971 c.2395_2397delAAG p.K803delK Deletion - In frame 1:22512068-22512070 + TCGA-EE-A2GL-06 COSM3484440 c.1917G>A p.P639P Substitution - coding silent 1:22511262-22511262 + TCGA-DK-A3WW-01 COSM3789577 c.1237G>A p.E413K Substitution - Missense 1:22506118-22506118 + QC2-32-T2 COSM3746832 c.1784A>G p.Y595C Substitution - Missense 1:22509184-22509184 + HCC19 COSM1601838 c.3339C>A p.F1113L Substitution - Missense 1:22524258-22524258 + 8013142 COSM1158943 c.1968C>T p.G656G Substitution - coding silent 1:22511313-22511313 + 2_RESISTANT COSM1722971 c.2395_2397delAAG p.K803delK Deletion - In frame 1:22512068-22512070 + TCGA-D1-A17Q-01 COSM904970 c.2655G>T p.K885N Substitution - Missense 1:22513117-22513117 + CHC205T COSM3746832 c.1784A>G p.Y595C Substitution - Missense 1:22509184-22509184 + CCK81 COSM1962684 c.94A>G p.T32A Substitution - Missense 1:22490042-22490042 + SNUH_G26_S1 COSM3746849 c.3546G>C p.P1182P Substitution - coding silent 1:22526222-22526222 + SNU-175 COSM1996375 c.3332C>T p.A1111V Substitution - Missense 1:22524251-22524251 + TCGA-D9-A6EC-06 COSM4404935 c.1692C>T p.F564F Substitution - coding silent 1:22508724-22508724 + tumor_4133263 COSM5947486 c.2058_2059insAC p.H687fs*66 Insertion - Frameshift 1:22511731-22511732 + ESCC_157 COSM5646116 c.2481G>C p.L827L Substitution - coding silent 1:22512943-22512943 + CSCC-27-T COSM4485780 c.2973C>T p.S991S Substitution - coding silent 1:22520200-22520200 + HX30T COSM3705584 c.50T>C p.L17P Substitution - Missense 1:22489998-22489998 + TCGA-FS-A1Z3-06 COSM3484399 c.107G>A p.R36K Substitution - Missense 1:22490055-22490055 + SNU-175 COSM1996641 c.3659C>T p.A1220V Substitution - Missense 1:22526335-22526335 + TCGA-ER-A19E-06 COSM3484444 c.2566C>T p.R856C Substitution - Missense 1:22513028-22513028 + TCGA-D9-A6EC-06 COSM4405959 c.3449T>A p.L1150H Substitution - Missense 1:22524368-22524368 + TCGA-A6-5665-01 COSM1339898 c.1576_1577insCT p.A529fs*40 Insertion - Frameshift 1:22508608-22508609 + TCGA-BR-8676-01 COSM4028854 c.1050G>T p.L350F Substitution - Missense 1:22502324-22502324 + LUAD-S01302 COSM405016 c.814delA p.G273fs*6 Deletion - Frameshift 1:22491516-22491516 + TCGA-G4-6588-01 COSM1339905 c.3712G>A p.A1238T Substitution - Missense 1:22526388-22526388 + TCGA-AA-3814-01 COSM270803 c.2945C>T p.T982M Substitution - Missense 1:22520172-22520172 + TCGA-BS-A0UV-01 COSM904925 c.723G>T p.L241L Substitution - coding silent 1:22491425-22491425 + 325 COSM3724218 c.41T>C p.L14P Substitution - Missense 1:22489989-22489989 + TCGA-HU-A4GH-01 COSM4028837 c.164A>C p.N55T Substitution - Missense 1:22490112-22490112 +

Mutation - CGAP UNIGENE CYTOBAND OMIM SNP Hs.418822;Hs.418966 1p36 612106 274292|dbSNP|BC114607|A/G|coding|Met885Val|2747|Candidate

Mutation - IntOGen Mutated from(ref) Mutated to(alt) Consequence Type AA Mutation CDS Mutation Chr Pos Cancer AAG - InFrameDeletion p.K803delK c.2408_2410delAGA 1 22838561 BLCA AAG - InFrameDeletion p.K803delK c.2408_2410delAGA 1 22838561 LGG AAG - InFrameDeletion p.K803delK c.2408_2410delAGA 1 22838561 THCA A C Missense p.E147A c.440A>C 1 22816881 RCCC A C Missense p.K485Q c.1453A>C 1 22834586 PAAD A C Missense p.T999P c.2995A>C 1 22846715 LUSC A - Frameshift p.K762Rfs*46 c.2285delA 1 22838450 SCLC A G Missense p.E301G c.902A>G 1 22828055 RCCC A G Missense p.Q1188R c.3563A>G 1 22852732 CM A G Missense p.R924G c.2770A>G 1 22843894 RCCC A G Synonymous p.L265L c.795A>G 1 22817990 LUAD A T Missense p.L262F c.786A>T 1 22817981 STAD A T Missense p.T774S c.2320A>T 1 22838486 BLCA C A Missense p.L605M c.1813C>A 1 22835706 UCEC C A Missense p.S1101Y c.3302C>A 1 22850714 SCLC C A Synonymous p.A633A c.1899C>A 1 22837737 LUAD C A Synonymous p.I589I c.1767C>A 1 22835660 BRCA C A Synonymous p.L811L c.2433C>A 1 22838599 UCEC CC TT Missense p.P215L c.644_645delinsTT 1 22817085 CM CC TT Synonymous p.(=) c.3459_3460delinsTT 1 22850871 CM C G Missense p.S151C c.452C>G 1 22816893 LUSC C G Missense p.S351C c.1052C>G 1 22828819 BLCA C G Nonsense p.S519* c.1556C>G 1 22835081 BRCA C G Synonymous p.T872T c.2616C>G 1 22839571 HNSC C T Missense p.A817V c.2450C>T 1 22838616 CM C T Missense p.A876V c.2627C>T 1 22839582 BRCA C T Missense p.P1182L c.3545C>T 1 22852714 LUAD C T Missense p.P203S c.607C>T 1 22817048 CM C T Missense p.P981L c.2942C>T 1 22846662 CM C T Missense p.R856C c.2566C>T 1 22839521 CM C T Missense p.S130F c.389C>T 1 22816830 NB C T Missense p.S488L c.1463C>T 1 22834596 CM C T Missense p.T982M c.2945C>T 1 22846665 COREAD C T Nonsense p.Q275* c.823C>T 1 22818018 CM C T Nonsense p.Q367* c.1099C>T 1 22828866 BLCA C T Nonsense p.R1026* c.3076C>T 1 22848016 CM C T Synonymous p.A1170A c.3510C>T 1 22850922 CM C T Synonymous p.C18C c.54C>T 1 22816495 BLCA C T Synonymous p.D730D c.2190C>T 1 22838356 CM C T Synonymous p.F1055F c.3165C>T 1 22848105 CM C T Synonymous p.F1135F c.3405C>T 1 22850817 CM C T Synonymous p.G437G c.1311C>T 1 22832685 CM C T Synonymous p.G656G c.1968C>T 1 22837806 PAAD C T Synonymous p.H88H c.264C>T 1 22816705 UCEC C T Synonymous p.L1218L c.3654C>T 1 22852823 CM C T Synonymous p.S937S c.2811C>T 1 22843935 STAD G A IntronicSNV . c.1-5797G>A 1 22810645 CLL G A Missense p.D702N c.2104G>A 1 22838270 CM G A Missense p.E833K c.2497G>A 1 22839452 ESCA G A Missense p.G860R c.2578G>A 1 22839533 STAD G A Missense p.R36K c.107G>A 1 22816548 CM G A Missense p.R910H c.2729G>A 1 22843853 CM G A Synonymous p.E1060E c.3180G>A 1 22848120 UCEC G A Synonymous p.E587E c.1761G>A 1 22835654 ESCA G A Synonymous p.K1129K c.3387G>A 1 22850799 UCEC G A Synonymous p.P639P c.1917G>A 1 22837755 CM G A Synonymous p.T1086T c.3258G>A 1 22848916 STAD G A Synonymous p.T80T c.240G>A 1 22816681 HNSC G C Missense p.E284Q c.850G>C 1 22828003 CM G T Missense p.A173S c.517G>T 1 22816958 THCA G T Missense p.D508Y c.1522G>T 1 22835047 GBM G T Nonsense p.E356* c.1066G>T 1 22828833 BRCA G T Nonsense p.E663* c.1987G>T 1 22837825 LUAD T A Missense p.V766E c.2297T>A 1 22838463 OV T C Missense p.C952R c.2854T>C 1 22846574 CM T C Missense p.L1143P c.3428T>C 1 22850840 BRCA T C Missense p.V521A c.1562T>C 1 22835087 CM T C Synonymous p.G285G c.855T>C 1 22828008 COREAD - T Frameshift p.C1109Lfs*30 c.3325dupT 1 22850737 RCCC