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 14 103931918 103931918 + Missense_Mutation SNP G G A TCGA-OR-A5KB-01A-11D-A30A-10 TCGA-OR-A5KB-11A-11D-A30A-10 g.chr14:103931918G>A c.565G>A c.(565-567)Gat>Aat p.D189N BLCA 14 103931903 103931903 + Missense_Mutation SNP C C G TCGA-ZF-AA4W-01A-12D-A38G-08 TCGA-ZF-AA4W-10A-01D-A38J-08 g.chr14:103931903C>G c.550C>G c.(550-552)Cta>Gta p.L184V BLCA 14 103932400 103932401 + In_Frame_Ins INS - - AAATCC TCGA-G2-AA3B-01A-11D-A391-08 TCGA-G2-AA3B-10A-01D-A394-08 g.chr14:103932400_103932401insAAATCC c.869_870insAAATCC c.(868-873)ctaaat>ctAAATCCaaat p.291_292insPN BLCA 14 103933457 103933457 + Missense_Mutation SNP G G C TCGA-CF-A47V-01A-11D-A23U-08 TCGA-CF-A47V-10A-01D-A23U-08 g.chr14:103933457G>C c.1039G>C c.(1039-1041)Gaa>Caa p.E347Q BLCA 14 103933458 103933458 + Missense_Mutation SNP A A C TCGA-DK-A6AW-01A-11D-A30E-08 TCGA-DK-A6AW-10A-01D-A30H-08 g.chr14:103933458A>C c.1040A>C c.(1039-1041)gAa>gCa p.E347A BLCA 14 103934477 103934477 + Missense_Mutation SNP G G C TCGA-CF-A47V-01A-11D-A23U-08 TCGA-CF-A47V-10A-01D-A23U-08 g.chr14:103934477G>C c.1218G>C c.(1216-1218)caG>caC p.Q406H BLCA 14 103969316 103969316 + Missense_Mutation SNP C C A TCGA-LT-A5Z6-01A-11D-A289-08 TCGA-LT-A5Z6-10A-01D-A289-08 g.chr14:103969316C>A c.2014C>A c.(2014-2016)Ccc>Acc p.P672T BLCA 14 103969477 103969477 + Silent SNP G G T TCGA-DK-A1AC-01A-11D-A13W-08 TCGA-DK-A1AC-10A-01D-A13W-08 g.chr14:103969477G>T c.2175G>T c.(2173-2175)ctG>ctT p.L725L BRCA 14 103932331 103932331 + Missense_Mutation SNP G G A TCGA-AC-A23H-01A-11D-A159-09 TCGA-AC-A23H-11A-12D-A17G-09 g.chr14:103932331G>A c.800G>A c.(799-801)aGa>aAa p.R267K BRCA 14 103969315 103969315 + Missense_Mutation SNP T T G TCGA-BH-A0EE-01A-11W-A050-09 TCGA-BH-A0EE-10A-01W-A055-09 g.chr14:103969315T>G c.2013T>G c.(2011-2013)gaT>gaG p.D671E CESC 14 103969412 103969412 + Missense_Mutation SNP G G A TCGA-Q1-A73O-01A-11D-A32I-09 TCGA-Q1-A73O-10B-01D-A32I-09 g.chr14:103969412G>A c.2110G>A c.(2110-2112)Gat>Aat p.D704N COAD 14 103871448 103871449 + Frame_Shift_Del DEL CT CT - TCGA-CK-6747-01A-11D-1835-10 TCGA-CK-6747-10A-01D-1835-10 g.chr14:103871448_103871449delCT c.87_88delCT c.(85-90)acctctfs p.S30fs COAD 14 103871547 103871547 + Silent SNP C C T TCGA-AA-3510-01A-01D-1408-10 TCGA-AA-3510-11A-01D-1408-10 g.chr14:103871547C>T c.186C>T c.(184-186)atC>atT p.I62I COAD 14 103923542 103923542 + Missense_Mutation SNP T T G TCGA-CA-6717-01A-11D-1835-10 TCGA-CA-6717-10A-01D-1835-10 g.chr14:103923542T>G c.476T>G c.(475-477)tTt>tGt p.F159C COAD 14 103923549 103923549 + Splice_Site SNP G G T TCGA-AA-3864-01A-01W-0995-10 TCGA-AA-3864-10A-01W-0995-10 g.chr14:103923549G>T c.483G>T c.(481-483)caG>caT p.Q161H COAD 14 103932006 103932006 + Missense_Mutation SNP A A G TCGA-AA-A010-01A-01W-A00E-09 TCGA-AA-A010-10A-01W-A00E-09 g.chr14:103932006A>G c.653A>G c.(652-654)tAc>tGc p.Y218C COAD 14 103932388 103932388 + Missense_Mutation SNP G G A TCGA-A6-6781-01A-22D-1924-10 TCGA-A6-6781-10A-01D-1924-10 g.chr14:103932388G>A c.857G>A c.(856-858)cGt>cAt p.R286H COAD 14 103933480 103933480 + Silent SNP C C T TCGA-AA-A00N-01A-02W-A00E-09 TCGA-AA-A00N-10A-01W-A00E-09 g.chr14:103933480C>T c.1062C>T c.(1060-1062)taC>taT p.Y354Y COAD 14 103941334 103941335 + Frame_Shift_Ins INS - - C TCGA-D5-6536-01A-11D-1719-10 TCGA-D5-6536-10A-01D-1719-10 g.chr14:103941334_103941335insC c.1269_1270insC c.(1270-1272)ccafs p.P424fs COAD 14 103958250 103958250 + Missense_Mutation SNP G G A TCGA-A6-6780-01A-11D-1835-10 TCGA-A6-6780-10A-01D-1835-10 g.chr14:103958250G>A c.1723G>A c.(1723-1725)Gca>Aca p.A575T COAD 14 103969433 103969433 + Missense_Mutation SNP G G A TCGA-AA-3877-01A-01W-0995-10 TCGA-AA-3877-10A-01W-0995-10 g.chr14:103969433G>A c.2131G>A c.(2131-2133)Gtg>Atg p.V711M COADREAD 14 103871448 103871449 + Frame_Shift_Del DEL CT CT - TCGA-CK-6747-01A-11D-1835-10 TCGA-CK-6747-10A-01D-1835-10 g.chr14:103871448_103871449delCT c.87_88delCT c.(85-90)acctctfs p.S30fs COADREAD 14 103871547 103871547 + Silent SNP C C T TCGA-AA-3510-01A-01D-1408-10 TCGA-AA-3510-11A-01D-1408-10 g.chr14:103871547C>T c.186C>T c.(184-186)atC>atT p.I62I COADREAD 14 103918266 103918266 + Missense_Mutation SNP G G A TCGA-AG-3892-01A-01W-1073-09 TCGA-AG-3892-10A-01W-1073-09 g.chr14:103918266G>A c.358G>A c.(358-360)Gaa>Aaa p.E120K COADREAD 14 103923542 103923542 + Missense_Mutation SNP T T G TCGA-CA-6717-01A-11D-1835-10 TCGA-CA-6717-10A-01D-1835-10 g.chr14:103923542T>G c.476T>G c.(475-477)tTt>tGt p.F159C COADREAD 14 103923549 103923549 + Splice_Site SNP G G T TCGA-AA-3864-01A-01W-0995-10 TCGA-AA-3864-10A-01W-0995-10 g.chr14:103923549G>T c.483G>T c.(481-483)caG>caT p.Q161H COADREAD 14 103932006 103932006 + Missense_Mutation SNP A A G TCGA-AA-A010-01A-01W-A00E-09 TCGA-AA-A010-10A-01W-A00E-09 g.chr14:103932006A>G c.653A>G c.(652-654)tAc>tGc p.Y218C COADREAD 14 103932388 103932388 + Missense_Mutation SNP G G A TCGA-A6-6781-01A-22D-1924-10 TCGA-A6-6781-10A-01D-1924-10 g.chr14:103932388G>A c.857G>A c.(856-858)cGt>cAt p.R286H COADREAD 14 103933480 103933480 + Silent SNP C C T TCGA-AA-A00N-01A-02W-A00E-09 TCGA-AA-A00N-10A-01W-A00E-09 g.chr14:103933480C>T c.1062C>T c.(1060-1062)taC>taT p.Y354Y COADREAD 14 103941334 103941335 + Frame_Shift_Ins INS - - C TCGA-D5-6536-01A-11D-1719-10 TCGA-D5-6536-10A-01D-1719-10 g.chr14:103941334_103941335insC c.1269_1270insC c.(1270-1272)ccafs p.P424fs COADREAD 14 103958250 103958250 + Missense_Mutation SNP G G A TCGA-A6-6780-01A-11D-1835-10 TCGA-A6-6780-10A-01D-1835-10 g.chr14:103958250G>A c.1723G>A c.(1723-1725)Gca>Aca p.A575T COADREAD 14 103969433 103969433 + Missense_Mutation SNP G G A TCGA-AA-3877-01A-01W-0995-10 TCGA-AA-3877-10A-01W-0995-10 g.chr14:103969433G>A c.2131G>A c.(2131-2133)Gtg>Atg p.V711M COADREAD 14 103969545 103969545 + Missense_Mutation SNP C C T TCGA-AG-A002-01A-01W-A00K-09 TCGA-AG-A002-10A-01W-A00K-09 g.chr14:103969545C>T c.2243C>T c.(2242-2244)gCc>gTc p.A748V DLBC 14 103941392 103941392 + Missense_Mutation SNP A A G TCGA-G8-6324-01A-11D-2210-10 TCGA-G8-6324-10A-01D-2210-10 g.chr14:103941392A>G c.1327A>G c.(1327-1329)Agt>Ggt p.S443G DLBC 14 103941454 103941454 + Silent SNP G G A TCGA-G8-6914-01A-11D-2210-10 TCGA-G8-6914-14A-01D-2210-10 g.chr14:103941454G>A c.1389G>A c.(1387-1389)aaG>aaA p.K463K ESCA 14 103894732 103894732 + Frame_Shift_Del DEL A A - TCGA-L5-A8NM-01A-11D-A37C-09 TCGA-L5-A8NM-11A-12D-A37F-09 g.chr14:103894732delA c.252delA c.(250-252)atafs p.I84fs ESCA 14 103931996 103931996 + Missense_Mutation SNP A A T TCGA-2H-A9GQ-01A-11D-A37C-09 TCGA-2H-A9GQ-11A-11D-A37F-09 g.chr14:103931996A>T c.643A>T c.(643-645)Agt>Tgt p.S215C ESCA 14 103932740 103932740 + Missense_Mutation SNP G G T TCGA-IG-A8O2-01A-11D-A36J-09 TCGA-IG-A8O2-10A-01D-A36M-09 g.chr14:103932740G>T c.958G>T c.(958-960)Gtt>Ttt p.V320F ESCA 14 103932743 103932743 + Nonsense_Mutation SNP G G T TCGA-L5-A893-01A-11D-A36J-09 TCGA-L5-A893-11A-21D-A36M-09 g.chr14:103932743G>T c.961G>T c.(961-963)Gaa>Taa p.E321* GBM 14 103933475 103933475 + Missense_Mutation SNP A A C TCGA-32-2495-01A-01D-1353-08 TCGA-32-2495-10B-01D-1353-08 g.chr14:103933475A>C c.1057A>C c.(1057-1059)Aaa>Caa p.K353Q GBMLGG 14 103915254 103915254 + Splice_Site SNP A A T TCGA-E1-A7YI-01A-11D-A34A-08 TCGA-E1-A7YI-10A-01D-A34A-08 g.chr14:103915254A>T c.e4-1 GBMLGG 14 103933475 103933475 + Missense_Mutation SNP A A C TCGA-32-2495-01A-01D-1353-08 TCGA-32-2495-10B-01D-1353-08 g.chr14:103933475A>C c.1057A>C c.(1057-1059)Aaa>Caa p.K353Q HNSC 14 103923477 103923477 + Splice_Site SNP A A G TCGA-F7-A624-01A-22D-A30E-08 TCGA-F7-A624-10A-01D-A30H-08 g.chr14:103923477A>G c.e6-1 HNSC 14 103958157 103958157 + Missense_Mutation SNP A A G TCGA-D6-6517-01A-11D-1870-08 TCGA-D6-6517-10A-01D-1870-08 g.chr14:103958157A>G c.1630A>G c.(1630-1632)Atc>Gtc p.I544V KICH 14 103941508 103941508 + Silent SNP G G A TCGA-KM-8438-01A-11D-2310-10 TCGA-KM-8438-10A-01D-2311-10 g.chr14:103941508G>A c.1443G>A c.(1441-1443)gcG>gcA p.A481A KIPAN 14 103894758 103894758 + Missense_Mutation SNP A A G TCGA-B9-7268-01A-11D-2136-08 TCGA-B9-7268-10A-01D-2136-08 g.chr14:103894758A>G c.278A>G c.(277-279)aAt>aGt p.N93S KIPAN 14 103932113 103932113 + Missense_Mutation SNP G G C TCGA-HE-7130-01A-11D-1961-08 TCGA-HE-7130-10A-01D-1962-08 g.chr14:103932113G>C c.760G>C c.(760-762)Gat>Cat p.D254H KIPAN 14 103941508 103941508 + Silent SNP G G A TCGA-KM-8438-01A-11D-2310-10 TCGA-KM-8438-10A-01D-2311-10 g.chr14:103941508G>A c.1443G>A c.(1441-1443)gcG>gcA p.A481A KIPAN 14 103969341 103969341 + Frame_Shift_Del DEL G G - TCGA-MH-A55W-01A-11D-A26P-10 TCGA-MH-A55W-10A-01D-A26P-10 g.chr14:103969341delG c.2039delG c.(2038-2040)cgcfs p.R680fs KIRP 14 103894758 103894758 + Missense_Mutation SNP A A G TCGA-B9-7268-01A-11D-2136-08 TCGA-B9-7268-10A-01D-2136-08 g.chr14:103894758A>G c.278A>G c.(277-279)aAt>aGt p.N93S KIRP 14 103932113 103932113 + Missense_Mutation SNP G G C TCGA-HE-7130-01A-11D-1961-08 TCGA-HE-7130-10A-01D-1962-08 g.chr14:103932113G>C c.760G>C c.(760-762)Gat>Cat p.D254H KIRP 14 103969341 103969341 + Frame_Shift_Del DEL G G - TCGA-MH-A55W-01A-11D-A26P-10 TCGA-MH-A55W-10A-01D-A26P-10 g.chr14:103969341delG c.2039delG c.(2038-2040)cgcfs p.R680fs LGG 14 103915254 103915254 + Splice_Site SNP A A T TCGA-E1-A7YI-01A-11D-A34A-08 TCGA-E1-A7YI-10A-01D-A34A-08 g.chr14:103915254A>T c.e4-1 LIHC 14 103934485 103934485 + Frame_Shift_Del DEL T T - TCGA-DD-A39Y-01A-11D-A20W-10 TCGA-DD-A39Y-11A-11D-A20W-10 g.chr14:103934485delT c.1226delT c.(1225-1227)gttfs p.V409fs LIHC 14 103969371 103969371 + Missense_Mutation SNP A A G TCGA-DD-AAEA-01A-11D-A40R-10 TCGA-DD-AAEA-10A-01D-A40U-10 g.chr14:103969371A>G c.2069A>G c.(2068-2070)tAt>tGt p.Y690C LUAD 14 103871486 103871486 + Missense_Mutation SNP C C G TCGA-17-Z057-01A-01W-0747-08 TCGA-17-Z057-11A-01W-0747-08 g.chr14:103871486C>G c.125C>G c.(124-126)tCt>tGt p.S42C LUAD 14 103931921 103931921 + Missense_Mutation SNP A A G TCGA-80-5611-01A-01D-1625-08 TCGA-80-5611-10A-01D-1625-08 g.chr14:103931921A>G c.568A>G c.(568-570)Atg>Gtg p.M190V LUAD 14 103932328 103932328 + Nonsense_Mutation SNP T T G TCGA-05-4403-01A-01D-1265-08 TCGA-05-4403-10A-01D-1265-08 g.chr14:103932328T>G c.797T>G c.(796-798)tTa>tGa p.L266* LUAD 14 103934452 103934452 + Missense_Mutation SNP G G A TCGA-NJ-A4YQ-01A-11D-A25L-08 TCGA-NJ-A4YQ-10A-01D-A25L-08 g.chr14:103934452G>A c.1193G>A c.(1192-1194)gGc>gAc p.G398D LUAD 14 103941476 103941476 + Missense_Mutation SNP A A T TCGA-17-Z059-01A-01W-0747-08 TCGA-17-Z059-11A-01W-0747-08 g.chr14:103941476A>T c.1411A>T c.(1411-1413)Atg>Ttg p.M471L LUAD 14 103966507 103966507 + Missense_Mutation SNP A A T TCGA-17-Z053-01A-01W-0747-08 TCGA-17-Z053-11A-01W-0747-08 g.chr14:103966507A>T c.1886A>T c.(1885-1887)tAt>tTt p.Y629F LUAD 14 103969274 103969274 + Silent SNP C C T TCGA-86-A4JF-01A-11D-A24P-08 TCGA-86-A4JF-10A-01D-A24P-08 g.chr14:103969274C>T c.1972C>T c.(1972-1974)Cta>Tta p.L658L LUAD 14 103969433 103969433 + Missense_Mutation SNP G G T TCGA-55-8203-01A-11D-2238-08 TCGA-55-8203-10A-01D-2238-08 g.chr14:103969433G>T c.2131G>T c.(2131-2133)Gtg>Ttg p.V711L LUSC 14 103915265 103915265 + Nonsense_Mutation SNP G G T TCGA-33-4583-01A-01D-1441-08 TCGA-33-4583-11A-01D-1441-08 g.chr14:103915265G>T c.307G>T c.(307-309)Gaa>Taa p.E103* LUSC 14 103931944 103931944 + Silent SNP C C T TCGA-33-4586-01A-01D-1441-08 TCGA-33-4586-11A-01D-1441-08 g.chr14:103931944C>T c.591C>T c.(589-591)ttC>ttT p.F197F LUSC 14 103932708 103932708 + Missense_Mutation SNP C C A TCGA-39-5027-01A-21D-1817-08 TCGA-39-5027-11A-01D-1817-08 g.chr14:103932708C>A c.926C>A c.(925-927)gCa>gAa p.A309E LUSC 14 103941431 103941431 + Missense_Mutation SNP A A G TCGA-21-1070-01A-01D-1521-08 TCGA-21-1070-11A-01D-1521-08 g.chr14:103941431A>G c.1366A>G c.(1366-1368)Agt>Ggt p.S456G LUSC 14 103941438 103941438 + Missense_Mutation SNP G G T TCGA-22-0944-01A-01D-1521-08 TCGA-22-0944-11A-01D-1521-08 g.chr14:103941438G>T c.1373G>T c.(1372-1374)aGt>aTt p.S458I LUSC 14 103946810 103946810 + Silent SNP G G A TCGA-39-5024-01A-21D-1817-08 TCGA-39-5024-11A-01D-1817-08 g.chr14:103946810G>A c.1569G>A c.(1567-1569)caG>caA p.Q523Q OV 14 103918266 103918266 + Missense_Mutation SNP G G A TCGA-13-0714-01A-01W-0370-10 TCGA-13-0714-10B-01W-0370-10 g.chr14:103918266G>A c.358G>A c.(358-360)Gaa>Aaa p.E120K PAAD 14 103958353 103958353 + Missense_Mutation SNP C C A TCGA-IB-7651-01A-11D-2154-08 TCGA-IB-7651-10A-01D-2154-08 g.chr14:103958353C>A c.1826C>A c.(1825-1827)aCt>aAt p.T609N PAAD 14 103969356 103969356 + Missense_Mutation SNP C C T TCGA-IB-7651-01A-11D-2154-08 TCGA-IB-7651-10A-01D-2154-08 g.chr14:103969356C>T c.2054C>T c.(2053-2055)gCc>gTc p.A685V PAAD 14 103969447 103969447 + Missense_Mutation SNP G G T TCGA-IB-7651-01A-11D-2154-08 TCGA-IB-7651-10A-01D-2154-08 g.chr14:103969447G>T c.2145G>T c.(2143-2145)atG>atT p.M715I PRAD 14 103871417 103871417 + Missense_Mutation SNP C C G TCGA-V1-A9Z9-01A-21D-A41K-08 TCGA-V1-A9Z9-10A-01D-A41N-08 g.chr14:103871417C>G c.56C>G c.(55-57)aCg>aGg p.T19R PRAD 14 103918266 103918266 + Missense_Mutation SNP G G A TCGA-CH-5752-01A-11D-1576-08 TCGA-CH-5752-10A-01D-1576-08 g.chr14:103918266G>A c.358G>A c.(358-360)Gaa>Aaa p.E120K PRAD 14 103969417 103969417 + Silent SNP G G A TCGA-XK-AAJA-01A-11D-A41K-08 TCGA-XK-AAJA-10A-01D-A41N-08 g.chr14:103969417G>A c.2115G>A c.(2113-2115)ggG>ggA p.G705G READ 14 103918266 103918266 + Missense_Mutation SNP G G A TCGA-AG-3892-01A-01W-1073-09 TCGA-AG-3892-10A-01W-1073-09 g.chr14:103918266G>A c.358G>A c.(358-360)Gaa>Aaa p.E120K READ 14 103969545 103969545 + Missense_Mutation SNP C C T TCGA-AG-A002-01A-01W-A00K-09 TCGA-AG-A002-10A-01W-A00K-09 g.chr14:103969545C>T c.2243C>T c.(2242-2244)gCc>gTc p.A748V SARC 14 103969310 103969310 + Missense_Mutation SNP A A T TCGA-SG-A849-01A-11D-A351-09 TCGA-SG-A849-10A-01D-A351-09 g.chr14:103969310A>T c.2008A>T c.(2008-2010)Atg>Ttg p.M670L SKCM 14 103871440 103871440 + Missense_Mutation SNP G G A TCGA-EE-A29A-06A-12D-A196-08 TCGA-EE-A29A-10A-01D-A198-08 g.chr14:103871440G>A c.79G>A c.(79-81)Gaa>Aaa p.E27K SKCM 14 103918266 103918266 + Missense_Mutation SNP G G A TCGA-FS-A1ZZ-06A-11D-A197-08 TCGA-FS-A1ZZ-10A-01D-A199-08 g.chr14:103918266G>A c.358G>A c.(358-360)Gaa>Aaa p.E120K SKCM 14 103932026 103932026 + Nonsense_Mutation SNP C C T TCGA-FS-A1ZQ-06A-11D-A197-08 TCGA-FS-A1ZQ-10A-01D-A199-08 g.chr14:103932026C>T c.673C>T c.(673-675)Cag>Tag p.Q225* SKCM 14 103932348 103932348 + Missense_Mutation SNP C C T TCGA-EE-A2ME-06A-11D-A197-08 TCGA-EE-A2ME-10A-01D-A199-08 g.chr14:103932348C>T c.817C>T c.(817-819)Ccc>Tcc p.P273S SKCM 14 103932349 103932349 + Missense_Mutation SNP C C T TCGA-D3-A51T-06A-11D-A25O-08 TCGA-D3-A51T-10A-01D-A25O-08 g.chr14:103932349C>T c.818C>T c.(817-819)cCc>cTc p.P273L SKCM 14 103941514 103941514 + Silent SNP T T C TCGA-EB-A5SH-06A-11D-A30X-08 TCGA-EB-A5SH-10A-01D-A30X-08 g.chr14:103941514T>C c.1449T>C c.(1447-1449)atT>atC p.I483I SKCM 14 103946755 103946755 + Missense_Mutation SNP G G C TCGA-EE-A2A2-06A-11D-A196-08 TCGA-EE-A2A2-10A-01D-A198-08 g.chr14:103946755G>C c.1514G>C c.(1513-1515)cGa>cCa p.R505P SKCM 14 103946816 103946816 + Silent SNP C C T TCGA-ER-A19H-06A-12D-A196-08 TCGA-ER-A19H-10A-01D-A198-08 g.chr14:103946816C>T c.1575C>T c.(1573-1575)ggC>ggT p.G525G SKCM 14 103958222 103958222 + Silent SNP C C T TCGA-D3-A2JD-06A-11D-A19A-08 TCGA-D3-A2JD-10A-01D-A19A-08 g.chr14:103958222C>T c.1695C>T c.(1693-1695)ttC>ttT p.F565F SKCM 14 103969227 103969227 + Missense_Mutation SNP T T C TCGA-EE-A3AB-06A-11D-A196-08 TCGA-EE-A3AB-10A-01D-A198-08 g.chr14:103969227T>C c.1925T>C c.(1924-1926)gTa>gCa p.V642A SKCM 14 103969316 103969316 + Missense_Mutation SNP C C T TCGA-D9-A1JW-06A-11D-A19A-08 TCGA-D9-A1JW-10A-01D-A19A-08 g.chr14:103969316C>T c.2014C>T c.(2014-2016)Ccc>Tcc p.P672S

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 14 103969477 103969477 single base substitution G T downstream_gene_variant BLCA-US 14 103969477 103969477 single base substitution G T exon_variant BLCA-US 14 103969477 103969477 single base substitution G T synonymous_variant L194L 582G>T BLCA-US 14 103969477 103969477 single base substitution G T synonymous_variant L303L 909G>T BLCA-US 14 103969477 103969477 single base substitution G T synonymous_variant L476L 1428G>T BLCA-US 14 103969477 103969477 single base substitution G T synonymous_variant L631L 1893G>T BLCA-US 14 103969477 103969477 single base substitution G T synonymous_variant L685L 2055G>T BLCA-US 14 103969477 103969477 single base substitution G T synonymous_variant L701L 2103G>T BLCA-US 14 103969477 103969477 single base substitution G T synonymous_variant L716L 2148G>T BLCA-US 14 103969477 103969477 single base substitution G T synonymous_variant L724L 2172G>T BLCA-US 14 103969477 103969477 single base substitution G T synonymous_variant L725L 2175G>T BLCA-US 14 103969477 103969477 single base substitution G T synonymous_variant L748L 2244G>T BOCA-FR 14 103871502 103871502 single base substitution A G exon_variant BOCA-FR 14 103871502 103871502 single base substitution A G synonymous_variant A35A 105A>G BOCA-FR 14 103871502 103871502 single base substitution A G synonymous_variant A47A 141A>G BRCA-EU 14 103847415 103847415 single base substitution G C upstream_gene_variant BRCA-EU 14 103849047 103849047 single base substitution G T upstream_gene_variant BRCA-EU 14 103849233 103849233 single base substitution C T upstream_gene_variant BRCA-EU 14 103850850 103850850 single base substitution G C upstream_gene_variant BRCA-EU 14 103851627 103851627 single base substitution C T upstream_gene_variant BRCA-EU 14 103851755 103851755 single base substitution T C 5_prime_UTR_variant BRCA-EU 14 103851755 103851755 single base substitution T C exon_variant BRCA-EU 14 103851755 103851755 single base substitution T C upstream_gene_variant BRCA-EU 14 103852374 103852374 single base substitution C A exon_variant BRCA-EU 14 103852374 103852374 single base substitution C A intron_variant BRCA-EU 14 103852374 103852374 single base substitution C A missense_variant T3N 8C>A BRCA-EU 14 103852374 103852374 single base substitution C A splice_region_variant BRCA-EU 14 103852374 103852374 single base substitution C A upstream_gene_variant BRCA-EU 14 103852669 103852669 single base substitution A G 5_prime_UTR_variant BRCA-EU 14 103852669 103852669 single base substitution A G intron_variant BRCA-EU 14 103852705 103852705 single base substitution C G 5_prime_UTR_variant BRCA-EU 14 103852705 103852705 single base substitution C G intron_variant BRCA-EU 14 103853268 103853268 single base substitution G C intron_variant BRCA-EU 14 103853943 103853943 single base substitution C T intron_variant BRCA-EU 14 103859751 103859751 single base substitution G C intron_variant BRCA-EU 14 103863179 103863179 single base substitution G A intron_variant BRCA-EU 14 103863248 103863248 single base substitution A C intron_variant BRCA-EU 14 103864057 103864057 single base substitution C T intron_variant BRCA-EU 14 103865654 103865654 single base substitution T C intron_variant BRCA-EU 14 103866972 103866972 single base substitution A G intron_variant BRCA-EU 14 103866972 103866972 single base substitution A G upstream_gene_variant BRCA-EU 14 103868461 103868461 single base substitution G A intron_variant BRCA-EU 14 103868461 103868461 single base substitution G A upstream_gene_variant BRCA-EU 14 103870944 103870944 single base substitution T G intron_variant BRCA-EU 14 103870944 103870944 single base substitution T G upstream_gene_variant BRCA-EU 14 103871419 103871419 single base substitution T C exon_variant BRCA-EU 14 103871419 103871419 single base substitution T C missense_variant S20P 58T>C BRCA-EU 14 103871419 103871419 single base substitution T C missense_variant S8P 22T>C BRCA-EU 14 103871419 103871419 single base substitution T C upstream_gene_variant BRCA-EU 14 103873702 103873702 single base substitution T A intron_variant BRCA-EU 14 103873710 103873710 single base substitution C G intron_variant BRCA-EU 14 103875841 103875841 deletion of <=200bp T - intron_variant BRCA-EU 14 103878791 103878791 single base substitution T G intron_variant BRCA-EU 14 103878791 103878791 single base substitution T G upstream_gene_variant BRCA-EU 14 103882358 103882358 single base substitution G A intron_variant BRCA-EU 14 103882358 103882358 single base substitution G A upstream_gene_variant BRCA-EU 14 103882537 103882537 single base substitution T C intron_variant BRCA-EU 14 103882537 103882537 single base substitution T C upstream_gene_variant BRCA-EU 14 103883116 103883116 single base substitution T A intron_variant BRCA-EU 14 103883116 103883116 single base substitution T A upstream_gene_variant BRCA-EU 14 103883238 103883238 single base substitution C T intron_variant BRCA-EU 14 103883238 103883238 single base substitution C T upstream_gene_variant BRCA-EU 14 103883819 103883819 single base substitution A G intron_variant BRCA-EU 14 103885408 103885408 single base substitution G A intron_variant BRCA-EU 14 103886175 103886175 single base substitution G T intron_variant BRCA-EU 14 103887541 103887541 single base substitution T C intron_variant BRCA-EU 14 103888039 103888039 single base substitution C T intron_variant BRCA-EU 14 103889702 103889702 single base substitution C T intron_variant BRCA-EU 14 103890588 103890588 single base substitution G A intron_variant BRCA-EU 14 103890588 103890588 single base substitution G A upstream_gene_variant BRCA-EU 14 103892113 103892113 single base substitution C A intron_variant BRCA-EU 14 103892113 103892113 single base substitution C A upstream_gene_variant BRCA-EU 14 103893431 103893431 single base substitution C A intron_variant BRCA-EU 14 103893431 103893431 single base substitution C A upstream_gene_variant BRCA-EU 14 103893707 103893707 single base substitution G A intron_variant BRCA-EU 14 103893707 103893707 single base substitution G A upstream_gene_variant BRCA-EU 14 103894008 103894008 single base substitution C T intron_variant BRCA-EU 14 103894008 103894008 single base substitution C T upstream_gene_variant BRCA-EU 14 103894197 103894197 single base substitution C T intron_variant BRCA-EU 14 103894197 103894197 single base substitution C T upstream_gene_variant BRCA-EU 14 103896330 103896330 single base substitution A G downstream_gene_variant BRCA-EU 14 103896330 103896330 single base substitution A G intron_variant BRCA-EU 14 103897969 103897969 single base substitution G T downstream_gene_variant BRCA-EU 14 103897969 103897969 single base substitution G T intron_variant BRCA-EU 14 103898320 103898320 deletion of <=200bp T - downstream_gene_variant BRCA-EU 14 103898320 103898320 deletion of <=200bp T - intron_variant BRCA-EU 14 103898487 103898487 single base substitution G T downstream_gene_variant BRCA-EU 14 103898487 103898487 single base substitution G T intron_variant BRCA-EU 14 103899255 103899255 single base substitution A C downstream_gene_variant BRCA-EU 14 103899255 103899255 single base substitution A C intron_variant BRCA-EU 14 103900767 103900767 single base substitution T G intron_variant BRCA-EU 14 103901660 103901660 single base substitution A T intron_variant BRCA-EU 14 103902605 103902605 single base substitution G C intron_variant BRCA-EU 14 103903298 103903298 single base substitution C T intron_variant BRCA-EU 14 103903516 103903516 single base substitution A G intron_variant BRCA-EU 14 103903718 103903718 single base substitution G A intron_variant BRCA-EU 14 103904185 103904185 single base substitution G A intron_variant BRCA-EU 14 103904243 103904243 single base substitution G C intron_variant BRCA-EU 14 103904560 103904560 single base substitution G C intron_variant BRCA-EU 14 103904983 103904983 single base substitution G C intron_variant BRCA-EU 14 103905942 103905942 single base substitution C T intron_variant BRCA-EU 14 103906398 103906398 single base substitution A T intron_variant BRCA-EU 14 103906422 103906422 single base substitution G A intron_variant BRCA-EU 14 103907492 103907492 single base substitution C G intron_variant BRCA-EU 14 103908510 103908510 single base substitution C T intron_variant BRCA-EU 14 103910738 103910738 single base substitution G A intron_variant BRCA-EU 14 103915709 103915709 single base substitution T G intron_variant BRCA-EU 14 103918588 103918588 single base substitution C G downstream_gene_variant BRCA-EU 14 103918588 103918588 single base substitution C G intron_variant BRCA-EU 14 103921374 103921374 single base substitution T C downstream_gene_variant BRCA-EU 14 103921374 103921374 single base substitution T C intron_variant BRCA-EU 14 103923239 103923239 single base substitution G C downstream_gene_variant BRCA-EU 14 103923239 103923239 single base substitution G C intron_variant BRCA-EU 14 103925440 103925440 single base substitution G T downstream_gene_variant BRCA-EU 14 103925440 103925440 single base substitution G T intron_variant BRCA-EU 14 103925616 103925616 single base substitution A G downstream_gene_variant BRCA-EU 14 103925616 103925616 single base substitution A G intron_variant BRCA-EU 14 103925634 103925634 single base substitution C T downstream_gene_variant BRCA-EU 14 103925634 103925634 single base substitution C T intron_variant BRCA-EU 14 103926308 103926308 single base substitution C T downstream_gene_variant BRCA-EU 14 103926308 103926308 single base substitution C T intron_variant BRCA-EU 14 103927531 103927531 single base substitution C T downstream_gene_variant BRCA-EU 14 103927531 103927531 single base substitution C T intron_variant BRCA-EU 14 103927531 103927531 single base substitution C T upstream_gene_variant BRCA-EU 14 103927900 103927900 single base substitution G A downstream_gene_variant BRCA-EU 14 103927900 103927900 single base substitution G A intron_variant BRCA-EU 14 103927900 103927900 single base substitution G A upstream_gene_variant BRCA-EU 14 103928457 103928457 single base substitution C G downstream_gene_variant BRCA-EU 14 103928457 103928457 single base substitution C G intron_variant BRCA-EU 14 103928457 103928457 single base substitution C G upstream_gene_variant BRCA-EU 14 103928998 103928998 single base substitution C T intron_variant BRCA-EU 14 103928998 103928998 single base substitution C T upstream_gene_variant BRCA-EU 14 103929396 103929396 single base substitution A T intron_variant BRCA-EU 14 103929396 103929396 single base substitution A T upstream_gene_variant BRCA-EU 14 103934104 103934104 single base substitution A C downstream_gene_variant BRCA-EU 14 103934104 103934104 single base substitution A C exon_variant BRCA-EU 14 103934104 103934104 single base substitution A C intron_variant BRCA-EU 14 103935592 103935592 single base substitution C G downstream_gene_variant BRCA-EU 14 103935592 103935592 single base substitution C G exon_variant BRCA-EU 14 103935592 103935592 single base substitution C G intron_variant BRCA-EU 14 103936414 103936414 single base substitution T A downstream_gene_variant BRCA-EU 14 103936414 103936414 single base substitution T A intron_variant BRCA-EU 14 103936414 103936414 single base substitution T A upstream_gene_variant BRCA-EU 14 103936616 103936616 single base substitution G C downstream_gene_variant BRCA-EU 14 103936616 103936616 single base substitution G C intron_variant BRCA-EU 14 103936616 103936616 single base substitution G C upstream_gene_variant BRCA-EU 14 103936826 103936826 single base substitution C T downstream_gene_variant BRCA-EU 14 103936826 103936826 single base substitution C T intron_variant BRCA-EU 14 103936826 103936826 single base substitution C T upstream_gene_variant BRCA-EU 14 103937011 103937011 single base substitution C G downstream_gene_variant BRCA-EU 14 103937011 103937011 single base substitution C G intron_variant BRCA-EU 14 103937011 103937011 single base substitution C G upstream_gene_variant BRCA-EU 14 103937540 103937540 single base substitution G A downstream_gene_variant BRCA-EU 14 103937540 103937540 single base substitution G A intron_variant BRCA-EU 14 103937540 103937540 single base substitution G A upstream_gene_variant BRCA-EU 14 103939281 103939281 single base substitution T C downstream_gene_variant BRCA-EU 14 103939281 103939281 single base substitution T C intron_variant BRCA-EU 14 103939281 103939281 single base substitution T C upstream_gene_variant BRCA-EU 14 103939327 103939327 single base substitution G C downstream_gene_variant BRCA-EU 14 103939327 103939327 single base substitution G C intron_variant BRCA-EU 14 103939327 103939327 single base substitution G C upstream_gene_variant BRCA-EU 14 103939955 103939955 single base substitution A T downstream_gene_variant BRCA-EU 14 103939955 103939955 single base substitution A T intron_variant BRCA-EU 14 103939955 103939955 single base substitution A T upstream_gene_variant BRCA-EU 14 103940370 103940370 single base substitution A C downstream_gene_variant BRCA-EU 14 103940370 103940370 single base substitution A C intron_variant BRCA-EU 14 103940370 103940370 single base substitution A C upstream_gene_variant BRCA-EU 14 103940847 103940847 single base substitution C T intron_variant BRCA-EU 14 103940847 103940847 single base substitution C T upstream_gene_variant BRCA-EU 14 103941468 103941468 single base substitution C T exon_variant BRCA-EU 14 103941468 103941468 single base substitution C T intron_variant BRCA-EU 14 103941468 103941468 single base substitution C T missense_variant A219V 656C>T BRCA-EU 14 103941468 103941468 single base substitution C T missense_variant A389V 1166C>T BRCA-EU 14 103941468 103941468 single base substitution C T missense_variant A3V 8C>T BRCA-EU 14 103941468 103941468 single base substitution C T missense_variant A452V 1355C>T BRCA-EU 14 103941468 103941468 single base substitution C T missense_variant A468V 1403C>T BRCA-EU 14 103941468 103941468 single base substitution C T missense_variant A47V 140C>T BRCA-EU 14 103941468 103941468 single base substitution C T missense_variant A491V 1472C>T BRCA-EU 14 103942380 103942380 single base substitution G C intron_variant BRCA-EU 14 103942899 103942899 single base substitution G A intron_variant BRCA-EU 14 103943776 103943801 deletion of <=200bp CTGAGATTGTGTCATTGCACTCCAGC - intron_variant BRCA-EU 14 103944497 103944497 single base substitution T C intron_variant BRCA-EU 14 103945746 103945746 single base substitution G C intron_variant BRCA-EU 14 103946868 103946868 single base substitution C G intron_variant BRCA-EU 14 103947281 103947281 single base substitution G C intron_variant BRCA-EU 14 103949279 103949279 single base substitution G C intron_variant BRCA-EU 14 103949559 103949559 single base substitution G C intron_variant BRCA-EU 14 103952416 103952416 single base substitution G C intron_variant BRCA-EU 14 103952416 103952416 single base substitution G C upstream_gene_variant BRCA-EU 14 103952511 103952511 single base substitution C G intron_variant BRCA-EU 14 103952511 103952511 single base substitution C G upstream_gene_variant BRCA-EU 14 103952834 103952834 single base substitution T A intron_variant BRCA-EU 14 103952834 103952834 single base substitution T A upstream_gene_variant BRCA-EU 14 103953563 103953563 single base substitution T C intron_variant BRCA-EU 14 103953563 103953563 single base substitution T C upstream_gene_variant BRCA-EU 14 103954168 103954168 single base substitution G A intron_variant BRCA-EU 14 103954168 103954168 single base substitution G A upstream_gene_variant BRCA-EU 14 103955066 103955066 single base substitution C A intron_variant BRCA-EU 14 103955066 103955066 single base substitution C A upstream_gene_variant BRCA-EU 14 103957931 103957931 single base substitution T A exon_variant BRCA-EU 14 103957931 103957931 single base substitution T A intron_variant BRCA-EU 14 103959630 103959630 single base substitution C T downstream_gene_variant BRCA-EU 14 103959630 103959630 single base substitution C T intron_variant BRCA-EU 14 103959992 103959992 single base substitution T A downstream_gene_variant BRCA-EU 14 103959992 103959992 single base substitution T A intron_variant BRCA-EU 14 103960167 103960167 single base substitution G A downstream_gene_variant BRCA-EU 14 103960167 103960167 single base substitution G A intron_variant BRCA-EU 14 103960982 103960982 deletion of <=200bp T - downstream_gene_variant BRCA-EU 14 103960982 103960982 deletion of <=200bp T - intron_variant BRCA-EU 14 103960982 103960982 deletion of <=200bp T - upstream_gene_variant BRCA-EU 14 103960991 103960991 single base substitution C T downstream_gene_variant BRCA-EU 14 103960991 103960991 single base substitution C T intron_variant BRCA-EU 14 103960991 103960991 single base substitution C T upstream_gene_variant BRCA-EU 14 103962253 103962253 single base substitution T C downstream_gene_variant BRCA-EU 14 103962253 103962253 single base substitution T C intron_variant BRCA-EU 14 103962253 103962253 single base substitution T C upstream_gene_variant BRCA-EU 14 103963192 103963192 single base substitution C T downstream_gene_variant BRCA-EU 14 103963192 103963192 single base substitution C T intron_variant BRCA-EU 14 103963192 103963192 single base substitution C T upstream_gene_variant BRCA-EU 14 103964149 103964149 single base substitution A G intron_variant BRCA-EU 14 103964149 103964149 single base substitution A G upstream_gene_variant BRCA-EU 14 103967267 103967267 single base substitution C A intron_variant BRCA-EU 14 103969167 103969167 single base substitution G C intron_variant BRCA-EU 14 103969240 103969240 single base substitution A T exon_variant BRCA-EU 14 103969240 103969240 single base substitution A T missense_variant Q115H 345A>T BRCA-EU 14 103969240 103969240 single base substitution A T missense_variant Q224H 672A>T BRCA-EU 14 103969240 103969240 single base substitution A T missense_variant Q397H 1191A>T BRCA-EU 14 103969240 103969240 single base substitution A T missense_variant Q552H 1656A>T BRCA-EU 14 103969240 103969240 single base substitution A T missense_variant Q606H 1818A>T BRCA-EU 14 103969240 103969240 single base substitution A T missense_variant Q622H 1866A>T BRCA-EU 14 103969240 103969240 single base substitution A T missense_variant Q637H 1911A>T BRCA-EU 14 103969240 103969240 single base substitution A T missense_variant Q645H 1935A>T BRCA-EU 14 103969240 103969240 single base substitution A T missense_variant Q646H 1938A>T BRCA-EU 14 103969240 103969240 single base substitution A T missense_variant Q669H 2007A>T BRCA-EU 14 103969337 103969337 single base substitution A C exon_variant BRCA-EU 14 103969337 103969337 single base substitution A C missense_variant I148L 442A>C BRCA-EU 14 103969337 103969337 single base substitution A C missense_variant I257L 769A>C BRCA-EU 14 103969337 103969337 single base substitution A C missense_variant I430L 1288A>C BRCA-EU 14 103969337 103969337 single base substitution A C missense_variant I585L 1753A>C BRCA-EU 14 103969337 103969337 single base substitution A C missense_variant I639L 1915A>C BRCA-EU 14 103969337 103969337 single base substitution A C missense_variant I655L 1963A>C BRCA-EU 14 103969337 103969337 single base substitution A C missense_variant I670L 2008A>C BRCA-EU 14 103969337 103969337 single base substitution A C missense_variant I678L 2032A>C BRCA-EU 14 103969337 103969337 single base substitution A C missense_variant I679L 2035A>C BRCA-EU 14 103969337 103969337 single base substitution A C missense_variant I702L 2104A>C BRCA-EU 14 103970730 103970730 single base substitution G T downstream_gene_variant BRCA-EU 14 103971315 103971315 single base substitution G A downstream_gene_variant BRCA-EU 14 103973950 103973950 single base substitution G A downstream_gene_variant BRCA-EU 14 103974388 103974388 single base substitution G C downstream_gene_variant BRCA-FR 14 103850850 103850850 single base substitution G C upstream_gene_variant BRCA-FR 14 103851627 103851627 single base substitution C T upstream_gene_variant BRCA-FR 14 103852705 103852705 single base substitution C G 5_prime_UTR_variant BRCA-FR 14 103852705 103852705 single base substitution C G intron_variant BRCA-FR 14 103853268 103853268 single base substitution G C intron_variant BRCA-FR 14 103853621 103853621 single base substitution T A intron_variant BRCA-FR 14 103859751 103859751 single base substitution G C intron_variant BRCA-FR 14 103861815 103861815 single base substitution A G intron_variant BRCA-FR 14 103881699 103881699 single base substitution G A intron_variant BRCA-FR 14 103881699 103881699 single base substitution G A upstream_gene_variant BRCA-FR 14 103881709 103881709 single base substitution G C intron_variant BRCA-FR 14 103881709 103881709 single base substitution G C upstream_gene_variant BRCA-FR 14 103883819 103883819 single base substitution A G intron_variant BRCA-FR 14 103890588 103890588 single base substitution G A intron_variant BRCA-FR 14 103890588 103890588 single base substitution G A upstream_gene_variant BRCA-FR 14 103899709 103899709 single base substitution C T downstream_gene_variant BRCA-FR 14 103899709 103899709 single base substitution C T intron_variant BRCA-FR 14 103901660 103901660 single base substitution A T intron_variant BRCA-FR 14 103904560 103904560 single base substitution G C intron_variant BRCA-FR 14 103904983 103904983 single base substitution G C intron_variant BRCA-FR 14 103907492 103907492 single base substitution C G intron_variant BRCA-FR 14 103913797 103913797 single base substitution C G intron_variant BRCA-FR 14 103915709 103915709 single base substitution T G intron_variant BRCA-FR 14 103918588 103918588 single base substitution C G downstream_gene_variant BRCA-FR 14 103918588 103918588 single base substitution C G intron_variant BRCA-FR 14 103925440 103925440 single base substitution G T downstream_gene_variant BRCA-FR 14 103925440 103925440 single base substitution G T intron_variant BRCA-FR 14 103935592 103935592 single base substitution C G downstream_gene_variant BRCA-FR 14 103935592 103935592 single base substitution C G exon_variant BRCA-FR 14 103935592 103935592 single base substitution C G intron_variant BRCA-FR 14 103940847 103940847 single base substitution C T intron_variant BRCA-FR 14 103940847 103940847 single base substitution C T upstream_gene_variant BRCA-FR 14 103949279 103949279 single base substitution G C intron_variant BRCA-FR 14 103949559 103949559 single base substitution G C intron_variant BRCA-FR 14 103952416 103952416 single base substitution G C intron_variant BRCA-FR 14 103952416 103952416 single base substitution G C upstream_gene_variant BRCA-FR 14 103955066 103955066 single base substitution C A intron_variant BRCA-FR 14 103955066 103955066 single base substitution C A upstream_gene_variant BRCA-FR 14 103959630 103959630 single base substitution C T downstream_gene_variant BRCA-FR 14 103959630 103959630 single base substitution C T intron_variant BRCA-FR 14 103969167 103969167 single base substitution G C intron_variant BRCA-FR 14 103974388 103974388 single base substitution G C downstream_gene_variant BRCA-UK 14 103917640 103917640 single base substitution G C intron_variant BRCA-UK 14 103933448 103933448 single base substitution G A downstream_gene_variant BRCA-UK 14 103933448 103933448 single base substitution G A exon_variant BRCA-UK 14 103933448 103933448 single base substitution G A intron_variant BRCA-UK 14 103933448 103933448 single base substitution G A missense_variant E111K 331G>A BRCA-UK 14 103933448 103933448 single base substitution G A missense_variant E265K 793G>A BRCA-UK 14 103933448 103933448 single base substitution G A missense_variant E344K 1030G>A BRCA-UK 14 103933448 103933448 single base substitution G A missense_variant E367K 1099G>A BRCA-UK 14 103933448 103933448 single base substitution G A upstream_gene_variant BRCA-UK 14 103934716 103934716 single base substitution G C downstream_gene_variant BRCA-UK 14 103934716 103934716 single base substitution G C intron_variant BRCA-UK 14 103946868 103946868 single base substitution C G intron_variant BRCA-UK 14 103967407 103967407 single base substitution C T intron_variant BRCA-UK 14 103973731 103973731 single base substitution C G downstream_gene_variant BRCA-UK 14 103973740 103973740 single base substitution C A downstream_gene_variant BRCA-UK 14 103974137 103974137 single base substitution C G downstream_gene_variant BRCA-US 14 103932331 103932331 single base substitution G A downstream_gene_variant BRCA-US 14 103932331 103932331 single base substitution G A intron_variant BRCA-US 14 103932331 103932331 single base substitution G A missense_variant R188K 563G>A BRCA-US 14 103932331 103932331 single base substitution G A missense_variant R267K 800G>A BRCA-US 14 103932331 103932331 single base substitution G A missense_variant R290K 869G>A BRCA-US 14 103932331 103932331 single base substitution G A missense_variant R34K 101G>A BRCA-US 14 103932331 103932331 single base substitution G A upstream_gene_variant BRCA-US 14 103969315 103969315 single base substitution T G exon_variant BRCA-US 14 103969315 103969315 single base substitution T G missense_variant D140E 420T>G BRCA-US 14 103969315 103969315 single base substitution T G missense_variant D249E 747T>G BRCA-US 14 103969315 103969315 single base substitution T G missense_variant D422E 1266T>G BRCA-US 14 103969315 103969315 single base substitution T G missense_variant D577E 1731T>G BRCA-US 14 103969315 103969315 single base substitution T G missense_variant D631E 1893T>G BRCA-US 14 103969315 103969315 single base substitution T G missense_variant D647E 1941T>G BRCA-US 14 103969315 103969315 single base substitution T G missense_variant D662E 1986T>G BRCA-US 14 103969315 103969315 single base substitution T G missense_variant D670E 2010T>G BRCA-US 14 103969315 103969315 single base substitution T G missense_variant D671E 2013T>G BRCA-US 14 103969315 103969315 single base substitution T G missense_variant D694E 2082T>G BTCA-JP 14 103852765 103852765 single base substitution G A intron_variant BTCA-JP 14 103871657 103871657 single base substitution A G intron_variant BTCA-JP 14 103925166 103925166 single base substitution C T downstream_gene_variant BTCA-JP 14 103925166 103925166 single base substitution C T intron_variant BTCA-JP 14 103932129 103932129 single base substitution A C downstream_gene_variant BTCA-JP 14 103932129 103932129 single base substitution A C exon_variant BTCA-JP 14 103932129 103932129 single base substitution A C intron_variant BTCA-JP 14 103932129 103932129 single base substitution A C missense_variant K259T 776A>C BTCA-JP 14 103932129 103932129 single base substitution A C missense_variant K26T 77A>C BTCA-JP 14 103932129 103932129 single base substitution A C missense_variant K282T 845A>C BTCA-JP 14 103932129 103932129 single base substitution A C upstream_gene_variant BTCA-JP 14 103946832 103946832 single base substitution G T intron_variant BTCA-JP 14 103946832 103946832 single base substitution G T splice_region_variant BTCA-JP 14 103958245 103958245 single base substitution G A exon_variant BTCA-JP 14 103958245 103958245 single base substitution G A intron_variant BTCA-JP 14 103958245 103958245 single base substitution G A missense_variant R160Q 479G>A BTCA-JP 14 103958245 103958245 single base substitution G A missense_variant R324Q 971G>A BTCA-JP 14 103958245 103958245 single base substitution G A missense_variant R494Q 1481G>A BTCA-JP 14 103958245 103958245 single base substitution G A missense_variant R557Q 1670G>A BTCA-JP 14 103958245 103958245 single base substitution G A missense_variant R573Q 1718G>A BTCA-JP 14 103958245 103958245 single base substitution G A missense_variant R596Q 1787G>A CESC-US 14 103852004 103852004 single base substitution C T 5_prime_UTR_premature_start_codon_gain_variant CESC-US 14 103852004 103852004 single base substitution C T exon_variant CESC-US 14 103852004 103852004 single base substitution C T upstream_gene_variant CESC-US 14 103969412 103969412 single base substitution G A downstream_gene_variant CESC-US 14 103969412 103969412 single base substitution G A exon_variant CESC-US 14 103969412 103969412 single base substitution G A missense_variant D173N 517G>A CESC-US 14 103969412 103969412 single base substitution G A missense_variant D282N 844G>A CESC-US 14 103969412 103969412 single base substitution G A missense_variant D455N 1363G>A CESC-US 14 103969412 103969412 single base substitution G A missense_variant D610N 1828G>A CESC-US 14 103969412 103969412 single base substitution G A missense_variant D664N 1990G>A CESC-US 14 103969412 103969412 single base substitution G A missense_variant D680N 2038G>A CESC-US 14 103969412 103969412 single base substitution G A missense_variant D695N 2083G>A CESC-US 14 103969412 103969412 single base substitution G A missense_variant D703N 2107G>A CESC-US 14 103969412 103969412 single base substitution G A missense_variant D704N 2110G>A CESC-US 14 103969412 103969412 single base substitution G A missense_variant D727N 2179G>A CLLE-ES 14 103850869 103850869 single base substitution G T upstream_gene_variant CLLE-ES 14 103874805 103874805 single base substitution C G intron_variant CLLE-ES 14 103877966 103877966 single base substitution C T intron_variant CLLE-ES 14 103887975 103887975 single base substitution C G intron_variant CLLE-ES 14 103896330 103896330 deletion of <=200bp A - downstream_gene_variant CLLE-ES 14 103896330 103896330 deletion of <=200bp A - intron_variant CLLE-ES 14 103917166 103917166 single base substitution A G intron_variant CLLE-ES 14 103929492 103929492 insertion of <=200bp - GA intron_variant CLLE-ES 14 103929492 103929492 insertion of <=200bp - GA upstream_gene_variant CLLE-ES 14 103933349 103933349 single base substitution A G downstream_gene_variant CLLE-ES 14 103933349 103933349 single base substitution A G intron_variant CLLE-ES 14 103933349 103933349 single base substitution A G upstream_gene_variant CLLE-ES 14 103937781 103937781 single base substitution G A downstream_gene_variant CLLE-ES 14 103937781 103937781 single base substitution G A intron_variant CLLE-ES 14 103937781 103937781 single base substitution G A upstream_gene_variant CLLE-ES 14 103939420 103939420 single base substitution C T downstream_gene_variant CLLE-ES 14 103939420 103939420 single base substitution C T intron_variant CLLE-ES 14 103939420 103939420 single base substitution C T upstream_gene_variant CLLE-ES 14 103959596 103959596 single base substitution T A downstream_gene_variant CLLE-ES 14 103959596 103959596 single base substitution T A intron_variant CLLE-ES 14 103959745 103959745 single base substitution C A downstream_gene_variant CLLE-ES 14 103959745 103959745 single base substitution C A intron_variant CLLE-ES 14 103962366 103962366 single base substitution C T downstream_gene_variant CLLE-ES 14 103962366 103962366 single base substitution C T intron_variant CLLE-ES 14 103962366 103962366 single base substitution C T upstream_gene_variant COAD-US 14 103871547 103871547 single base substitution C T exon_variant COAD-US 14 103871547 103871547 single base substitution C T synonymous_variant I50I 150C>T COAD-US 14 103871547 103871547 single base substitution C T synonymous_variant I62I 186C>T COAD-US 14 103923542 103923542 single base substitution T G downstream_gene_variant COAD-US 14 103923542 103923542 single base substitution T G exon_variant COAD-US 14 103923542 103923542 single base substitution T G intron_variant COAD-US 14 103923542 103923542 single base substitution T G missense_variant F141C 422T>G COAD-US 14 103923542 103923542 single base substitution T G missense_variant F159C 476T>G COAD-US 14 103932376 103932376 single base substitution A G downstream_gene_variant COAD-US 14 103932376 103932376 single base substitution A G intron_variant COAD-US 14 103932376 103932376 single base substitution A G missense_variant N203S 608A>G COAD-US 14 103932376 103932376 single base substitution A G missense_variant N282S 845A>G COAD-US 14 103932376 103932376 single base substitution A G missense_variant N305S 914A>G COAD-US 14 103932376 103932376 single base substitution A G missense_variant N49S 146A>G COAD-US 14 103932376 103932376 single base substitution A G upstream_gene_variant COAD-US 14 103932388 103932388 single base substitution G A downstream_gene_variant COAD-US 14 103932388 103932388 single base substitution G A intron_variant COAD-US 14 103932388 103932388 single base substitution G A missense_variant R207H 620G>A COAD-US 14 103932388 103932388 single base substitution G A missense_variant R286H 857G>A COAD-US 14 103932388 103932388 single base substitution G A missense_variant R309H 926G>A COAD-US 14 103932388 103932388 single base substitution G A missense_variant R53H 158G>A COAD-US 14 103932388 103932388 single base substitution G A upstream_gene_variant COAD-US 14 103941334 103941334 insertion of <=200bp - C exon_variant COAD-US 14 103941334 103941334 insertion of <=200bp - C frameshift_variant G174G? COAD-US 14 103941334 103941334 insertion of <=200bp - C frameshift_variant G2G? COAD-US 14 103941334 103941334 insertion of <=200bp - C frameshift_variant G344G? COAD-US 14 103941334 103941334 insertion of <=200bp - C frameshift_variant G407G? COAD-US 14 103941334 103941334 insertion of <=200bp - C frameshift_variant G423G? COAD-US 14 103941334 103941334 insertion of <=200bp - C frameshift_variant G446G? COAD-US 14 103941334 103941334 insertion of <=200bp - C intron_variant COAD-US 14 103941334 103941334 insertion of <=200bp - C upstream_gene_variant COAD-US 14 103958250 103958250 single base substitution G A exon_variant COAD-US 14 103958250 103958250 single base substitution G A intron_variant COAD-US 14 103958250 103958250 single base substitution G A missense_variant A162T 484G>A COAD-US 14 103958250 103958250 single base substitution G A missense_variant A326T 976G>A COAD-US 14 103958250 103958250 single base substitution G A missense_variant A496T 1486G>A COAD-US 14 103958250 103958250 single base substitution G A missense_variant A559T 1675G>A COAD-US 14 103958250 103958250 single base substitution G A missense_variant A575T 1723G>A COAD-US 14 103958250 103958250 single base substitution G A missense_variant A598T 1792G>A COCA-CN 14 103853832 103853832 single base substitution T C intron_variant COCA-CN 14 103866169 103866169 single base substitution G A intron_variant COCA-CN 14 103871681 103871681 single base substitution G T intron_variant COCA-CN 14 103878481 103878481 single base substitution G A intron_variant COCA-CN 14 103885171 103885171 single base substitution G T intron_variant COCA-CN 14 103891709 103891709 single base substitution G T intron_variant COCA-CN 14 103891709 103891709 single base substitution G T upstream_gene_variant COCA-CN 14 103894818 103894818 single base substitution C T downstream_gene_variant COCA-CN 14 103894818 103894818 single base substitution C T intron_variant COCA-CN 14 103894818 103894818 single base substitution C T upstream_gene_variant COCA-CN 14 103918333 103918333 single base substitution T G downstream_gene_variant COCA-CN 14 103918333 103918333 single base substitution T G intron_variant COCA-CN 14 103923475 103923475 single base substitution A G intron_variant COCA-CN 14 103923475 103923475 single base substitution A G splice_region_variant COCA-CN 14 103931904 103931904 single base substitution T G exon_variant COCA-CN 14 103931904 103931904 single base substitution T G intron_variant COCA-CN 14 103931904 103931904 single base substitution T G missense_variant L166R 497T>G COCA-CN 14 103931904 103931904 single base substitution T G missense_variant L184R 551T>G COCA-CN 14 103931904 103931904 single base substitution T G missense_variant L207R 620T>G COCA-CN 14 103931904 103931904 single base substitution T G upstream_gene_variant COCA-CN 14 103932439 103932439 single base substitution A G downstream_gene_variant COCA-CN 14 103932439 103932439 single base substitution A G intron_variant COCA-CN 14 103932439 103932439 single base substitution A G upstream_gene_variant COCA-CN 14 103932614 103932614 single base substitution T G downstream_gene_variant COCA-CN 14 103932614 103932614 single base substitution T G intron_variant COCA-CN 14 103932614 103932614 single base substitution T G upstream_gene_variant COCA-CN 14 103933348 103933348 single base substitution A G downstream_gene_variant COCA-CN 14 103933348 103933348 single base substitution A G intron_variant COCA-CN 14 103933348 103933348 single base substitution A G upstream_gene_variant COCA-CN 14 103933351 103933351 single base substitution A G downstream_gene_variant COCA-CN 14 103933351 103933351 single base substitution A G intron_variant COCA-CN 14 103933351 103933351 single base substitution A G upstream_gene_variant COCA-CN 14 103941306 103941306 single base substitution T A intron_variant COCA-CN 14 103941306 103941306 single base substitution T A upstream_gene_variant COCA-CN 14 103946751 103946751 single base substitution C T exon_variant COCA-CN 14 103946751 103946751 single base substitution C T intron_variant COCA-CN 14 103946751 103946751 single base substitution C T stop_gained R255* 763C>T COCA-CN 14 103946751 103946751 single base substitution C T stop_gained R39* 115C>T COCA-CN 14 103946751 103946751 single base substitution C T stop_gained R425* 1273C>T COCA-CN 14 103946751 103946751 single base substitution C T stop_gained R488* 1462C>T COCA-CN 14 103946751 103946751 single base substitution C T stop_gained R504* 1510C>T COCA-CN 14 103946751 103946751 single base substitution C T stop_gained R527* 1579C>T COCA-CN 14 103946751 103946751 single base substitution C T stop_gained R83* 247C>T COCA-CN 14 103958059 103958059 single base substitution A G exon_variant COCA-CN 14 103958059 103958059 single base substitution A G intron_variant COCA-CN 14 103964845 103964845 single base substitution G T exon_variant COCA-CN 14 103964845 103964845 single base substitution G T intron_variant COCA-CN 14 103964845 103964845 single base substitution G T missense_variant M368I 1104G>T COCA-CN 14 103964845 103964845 single base substitution G T missense_variant M538I 1614G>T COCA-CN 14 103964845 103964845 single base substitution G T missense_variant M617I 1851G>T COCA-CN 14 103964845 103964845 single base substitution G T missense_variant M640I 1920G>T COCA-CN 14 103964845 103964845 single base substitution G T upstream_gene_variant COCA-CN 14 103971260 103971260 single base substitution A T downstream_gene_variant EOPC-DE 14 103850772 103850772 single base substitution C T upstream_gene_variant EOPC-DE 14 103852473 103852473 single base substitution C G intron_variant EOPC-DE 14 103852473 103852473 single base substitution C G upstream_gene_variant EOPC-DE 14 103910500 103910500 single base substitution A T intron_variant EOPC-DE 14 103953277 103953277 single base substitution A C intron_variant EOPC-DE 14 103953277 103953277 single base substitution A C upstream_gene_variant ESAD-UK 14 103847057 103847057 single base substitution A G upstream_gene_variant ESAD-UK 14 103847883 103847883 single base substitution T C upstream_gene_variant ESAD-UK 14 103849115 103849115 single base substitution C T upstream_gene_variant ESAD-UK 14 103849981 103849981 single base substitution C T upstream_gene_variant ESAD-UK 14 103854134 103854134 single base substitution A T intron_variant ESAD-UK 14 103854603 103854603 single base substitution T A intron_variant ESAD-UK 14 103857395 103857395 single base substitution G T intron_variant ESAD-UK 14 103860013 103860013 single base substitution A G intron_variant ESAD-UK 14 103865313 103865313 single base substitution A G intron_variant ESAD-UK 14 103871235 103871235 single base substitution G A intron_variant ESAD-UK 14 103871235 103871235 single base substitution G A upstream_gene_variant ESAD-UK 14 103873449 103873449 single base substitution G C intron_variant ESAD-UK 14 103875841 103875841 deletion of <=200bp T - intron_variant ESAD-UK 14 103877217 103877217 single base substitution T C intron_variant ESAD-UK 14 103878416 103878416 insertion of <=200bp - T intron_variant ESAD-UK 14 103880367 103880367 single base substitution T A intron_variant ESAD-UK 14 103880367 103880367 single base substitution T A upstream_gene_variant ESAD-UK 14 103881221 103881221 single base substitution G A intron_variant ESAD-UK 14 103881221 103881221 single base substitution G A upstream_gene_variant ESAD-UK 14 103882543 103882543 single base substitution A G intron_variant ESAD-UK 14 103882543 103882543 single base substitution A G upstream_gene_variant ESAD-UK 14 103884420 103884420 insertion of <=200bp - TG intron_variant ESAD-UK 14 103884643 103884643 single base substitution T C intron_variant ESAD-UK 14 103886360 103886360 single base substitution A T intron_variant ESAD-UK 14 103886664 103886664 single base substitution C T intron_variant ESAD-UK 14 103887183 103887183 insertion of <=200bp - T intron_variant ESAD-UK 14 103889273 103889273 single base substitution A T intron_variant ESAD-UK 14 103889448 103889448 single base substitution C T intron_variant ESAD-UK 14 103890297 103890297 single base substitution C T intron_variant ESAD-UK 14 103890956 103890956 single base substitution A C intron_variant ESAD-UK 14 103890956 103890956 single base substitution A C upstream_gene_variant ESAD-UK 14 103898958 103898958 single base substitution C T downstream_gene_variant ESAD-UK 14 103898958 103898958 single base substitution C T intron_variant ESAD-UK 14 103901165 103901165 single base substitution A T intron_variant ESAD-UK 14 103904508 103904508 single base substitution T G intron_variant ESAD-UK 14 103912158 103912158 single base substitution C T intron_variant ESAD-UK 14 103912590 103912590 single base substitution G A intron_variant ESAD-UK 14 103914418 103914418 single base substitution T G intron_variant ESAD-UK 14 103919729 103919729 single base substitution C T downstream_gene_variant ESAD-UK 14 103919729 103919729 single base substitution C T intron_variant ESAD-UK 14 103922951 103922951 single base substitution T G downstream_gene_variant ESAD-UK 14 103922951 103922951 single base substitution T G intron_variant ESAD-UK 14 103923237 103923237 single base substitution A T downstream_gene_variant ESAD-UK 14 103923237 103923237 single base substitution A T intron_variant ESAD-UK 14 103926953 103926953 single base substitution T G downstream_gene_variant ESAD-UK 14 103926953 103926953 single base substitution T G intron_variant ESAD-UK 14 103930758 103930758 single base substitution C A intron_variant ESAD-UK 14 103930758 103930758 single base substitution C A upstream_gene_variant ESAD-UK 14 103930883 103930883 single base substitution C T intron_variant ESAD-UK 14 103930883 103930883 single base substitution C T upstream_gene_variant ESAD-UK 14 103931387 103931387 single base substitution C T intron_variant ESAD-UK 14 103931387 103931387 single base substitution C T upstream_gene_variant ESAD-UK 14 103932281 103932281 single base substitution G T downstream_gene_variant ESAD-UK 14 103932281 103932281 single base substitution G T intron_variant ESAD-UK 14 103932281 103932281 single base substitution G T upstream_gene_variant ESAD-UK 14 103936706 103936706 single base substitution G A downstream_gene_variant ESAD-UK 14 103936706 103936706 single base substitution G A intron_variant ESAD-UK 14 103936706 103936706 single base substitution G A upstream_gene_variant ESAD-UK 14 103939970 103939970 single base substitution C T downstream_gene_variant ESAD-UK 14 103939970 103939970 single base substitution C T intron_variant ESAD-UK 14 103939970 103939970 single base substitution C T upstream_gene_variant ESAD-UK 14 103940251 103940251 single base substitution A G downstream_gene_variant ESAD-UK 14 103940251 103940251 single base substitution A G intron_variant ESAD-UK 14 103940251 103940251 single base substitution A G upstream_gene_variant ESAD-UK 14 103942012 103942012 single base substitution G A intron_variant ESAD-UK 14 103942051 103942051 single base substitution A C intron_variant ESAD-UK 14 103942331 103942331 single base substitution C G intron_variant ESAD-UK 14 103944076 103944076 single base substitution G A intron_variant ESAD-UK 14 103947141 103947141 single base substitution G T intron_variant ESAD-UK 14 103947487 103947487 single base substitution G A intron_variant ESAD-UK 14 103951710 103951710 single base substitution A C intron_variant ESAD-UK 14 103951710 103951710 single base substitution A C upstream_gene_variant ESAD-UK 14 103952841 103952841 single base substitution A T intron_variant ESAD-UK 14 103952841 103952841 single base substitution A T upstream_gene_variant ESAD-UK 14 103953235 103953235 single base substitution C G intron_variant ESAD-UK 14 103953235 103953235 single base substitution C G upstream_gene_variant ESAD-UK 14 103953732 103953732 deletion of <=200bp T - intron_variant ESAD-UK 14 103953732 103953732 deletion of <=200bp T - upstream_gene_variant ESAD-UK 14 103954564 103954564 deletion of <=200bp A - intron_variant ESAD-UK 14 103954564 103954564 deletion of <=200bp A - upstream_gene_variant ESAD-UK 14 103957525 103957525 single base substitution G C exon_variant ESAD-UK 14 103957525 103957525 single base substitution G C intron_variant ESAD-UK 14 103957525 103957525 single base substitution G C upstream_gene_variant ESAD-UK 14 103957780 103957780 single base substitution T G exon_variant ESAD-UK 14 103957780 103957780 single base substitution T G intron_variant ESAD-UK 14 103957780 103957780 single base substitution T G upstream_gene_variant ESAD-UK 14 103957783 103957783 single base substitution C G exon_variant ESAD-UK 14 103957783 103957783 single base substitution C G intron_variant ESAD-UK 14 103957783 103957783 single base substitution C G upstream_gene_variant ESAD-UK 14 103962170 103962170 single base substitution A C downstream_gene_variant ESAD-UK 14 103962170 103962170 single base substitution A C intron_variant ESAD-UK 14 103962170 103962170 single base substitution A C upstream_gene_variant ESAD-UK 14 103969169 103969169 single base substitution G C intron_variant ESAD-UK 14 103969818 103969818 single base substitution G A 3_prime_UTR_variant ESAD-UK 14 103969818 103969818 single base substitution G A downstream_gene_variant ESAD-UK 14 103969818 103969818 single base substitution G A exon_variant ESAD-UK 14 103970957 103970957 single base substitution T G downstream_gene_variant ESAD-UK 14 103974348 103974348 single base substitution T C downstream_gene_variant ESCA-CN 14 103871420 103871420 single base substitution C T exon_variant ESCA-CN 14 103871420 103871420 single base substitution C T missense_variant S20L 59C>T ESCA-CN 14 103871420 103871420 single base substitution C T missense_variant S8L 23C>T ESCA-CN 14 103871420 103871420 single base substitution C T upstream_gene_variant ESCA-CN 14 103933348 103933348 single base substitution A G downstream_gene_variant ESCA-CN 14 103933348 103933348 single base substitution A G intron_variant ESCA-CN 14 103933348 103933348 single base substitution A G upstream_gene_variant ESCA-CN 14 103934449 103934449 single base substitution C G downstream_gene_variant ESCA-CN 14 103934449 103934449 single base substitution C G exon_variant ESCA-CN 14 103934449 103934449 single base substitution C G intron_variant ESCA-CN 14 103934449 103934449 single base substitution C G missense_variant T148S 443C>G ESCA-CN 14 103934449 103934449 single base substitution C G missense_variant T318S 953C>G ESCA-CN 14 103934449 103934449 single base substitution C G missense_variant T381S 1142C>G ESCA-CN 14 103934449 103934449 single base substitution C G missense_variant T397S 1190C>G ESCA-CN 14 103934449 103934449 single base substitution C G missense_variant T420S 1259C>G GBM-US 14 103933475 103933475 single base substitution A C downstream_gene_variant GBM-US 14 103933475 103933475 single base substitution A C exon_variant GBM-US 14 103933475 103933475 single base substitution A C intron_variant GBM-US 14 103933475 103933475 single base substitution A C missense_variant K120Q 358A>C GBM-US 14 103933475 103933475 single base substitution A C missense_variant K274Q 820A>C GBM-US 14 103933475 103933475 single base substitution A C missense_variant K353Q 1057A>C GBM-US 14 103933475 103933475 single base substitution A C missense_variant K376Q 1126A>C GBM-US 14 103933475 103933475 single base substitution A C upstream_gene_variant KIRP-US 14 103932113 103932113 single base substitution G C downstream_gene_variant KIRP-US 14 103932113 103932113 single base substitution G C exon_variant KIRP-US 14 103932113 103932113 single base substitution G C intron_variant KIRP-US 14 103932113 103932113 single base substitution G C missense_variant D21H 61G>C KIRP-US 14 103932113 103932113 single base substitution G C missense_variant D254H 760G>C KIRP-US 14 103932113 103932113 single base substitution G C missense_variant D277H 829G>C KIRP-US 14 103932113 103932113 single base substitution G C upstream_gene_variant KIRP-US 14 103969341 103969341 deletion of <=200bp G - exon_variant KIRP-US 14 103969341 103969341 deletion of <=200bp G - frameshift_variant R149 KIRP-US 14 103969341 103969341 deletion of <=200bp G - frameshift_variant R258 KIRP-US 14 103969341 103969341 deletion of <=200bp G - frameshift_variant R431 KIRP-US 14 103969341 103969341 deletion of <=200bp G - frameshift_variant R586 KIRP-US 14 103969341 103969341 deletion of <=200bp G - frameshift_variant R640 KIRP-US 14 103969341 103969341 deletion of <=200bp G - frameshift_variant R656 KIRP-US 14 103969341 103969341 deletion of <=200bp G - frameshift_variant R671 KIRP-US 14 103969341 103969341 deletion of <=200bp G - frameshift_variant R679 KIRP-US 14 103969341 103969341 deletion of <=200bp G - frameshift_variant R680 KIRP-US 14 103969341 103969341 deletion of <=200bp G - frameshift_variant R703 LAML-KR 14 103856276 103856276 single base substitution G A intron_variant LAML-KR 14 103872917 103872917 single base substitution C T intron_variant LAML-KR 14 103878262 103878262 single base substitution A T intron_variant LAML-KR 14 103891788 103891788 single base substitution C T intron_variant LAML-KR 14 103891788 103891788 single base substitution C T upstream_gene_variant LAML-KR 14 103915226 103915226 single base substitution A G intron_variant LICA-CN 14 103957380 103957380 single base substitution G A exon_variant LICA-CN 14 103957380 103957380 single base substitution G A intron_variant LICA-CN 14 103957380 103957380 single base substitution G A missense_variant A95T 283G>A LICA-CN 14 103957380 103957380 single base substitution G A upstream_gene_variant LICA-CN 14 103958245 103958245 single base substitution G T exon_variant LICA-CN 14 103958245 103958245 single base substitution G T intron_variant LICA-CN 14 103958245 103958245 single base substitution G T missense_variant R160L 479G>T LICA-CN 14 103958245 103958245 single base substitution G T missense_variant R324L 971G>T LICA-CN 14 103958245 103958245 single base substitution G T missense_variant R494L 1481G>T LICA-CN 14 103958245 103958245 single base substitution G T missense_variant R557L 1670G>T LICA-CN 14 103958245 103958245 single base substitution G T missense_variant R573L 1718G>T LICA-CN 14 103958245 103958245 single base substitution G T missense_variant R596L 1787G>T LICA-FR 14 103859239 103859239 single base substitution C G intron_variant LICA-FR 14 103869664 103869671 deletion of <=200bp TGTGTGTG - intron_variant LICA-FR 14 103869664 103869671 deletion of <=200bp TGTGTGTG - upstream_gene_variant LICA-FR 14 103869709 103869709 single base substitution G A intron_variant LICA-FR 14 103869709 103869709 single base substitution G A upstream_gene_variant LICA-FR 14 103886456 103886456 single base substitution C A intron_variant LICA-FR 14 103905179 103905179 single base substitution G T intron_variant LICA-FR 14 103910424 103910424 insertion of <=200bp - TT intron_variant LICA-FR 14 103918375 103918375 insertion of <=200bp - G downstream_gene_variant LICA-FR 14 103918375 103918375 insertion of <=200bp - G intron_variant LICA-FR 14 103922063 103922064 deletion of <=200bp AA - downstream_gene_variant LICA-FR 14 103922063 103922064 deletion of <=200bp AA - intron_variant LICA-FR 14 103922569 103922569 single base substitution T G downstream_gene_variant LICA-FR 14 103922569 103922569 single base substitution T G intron_variant LICA-FR 14 103951401 103951401 deletion of <=200bp A - intron_variant LICA-FR 14 103951401 103951401 deletion of <=200bp A - upstream_gene_variant LICA-FR 14 103966555 103966555 single base substitution T C intron_variant LINC-JP 14 103871990 103871990 single base substitution A G intron_variant LINC-JP 14 103879002 103879002 single base substitution C T intron_variant LINC-JP 14 103879002 103879002 single base substitution C T upstream_gene_variant LINC-JP 14 103882696 103882696 single base substitution A G intron_variant LINC-JP 14 103882696 103882696 single base substitution A G upstream_gene_variant LINC-JP 14 103891267 103891267 single base substitution A G intron_variant LINC-JP 14 103891267 103891267 single base substitution A G upstream_gene_variant LINC-JP 14 103906339 103906339 single base substitution C T intron_variant LINC-JP 14 103907956 103907956 single base substitution C T intron_variant LINC-JP 14 103918220 103918220 single base substitution T G intron_variant LINC-JP 14 103923291 103923291 single base substitution T A downstream_gene_variant LINC-JP 14 103923291 103923291 single base substitution T A intron_variant LINC-JP 14 103925645 103925645 single base substitution A G downstream_gene_variant LINC-JP 14 103925645 103925645 single base substitution A G intron_variant LINC-JP 14 103928510 103928510 single base substitution T A downstream_gene_variant LINC-JP 14 103928510 103928510 single base substitution T A intron_variant LINC-JP 14 103928510 103928510 single base substitution T A upstream_gene_variant LINC-JP 14 103928511 103928511 single base substitution C A downstream_gene_variant LINC-JP 14 103928511 103928511 single base substitution C A intron_variant LINC-JP 14 103928511 103928511 single base substitution C A upstream_gene_variant LINC-JP 14 103928628 103928628 single base substitution C G intron_variant LINC-JP 14 103928628 103928628 single base substitution C G upstream_gene_variant LINC-JP 14 103934654 103934654 single base substitution T C downstream_gene_variant LINC-JP 14 103934654 103934654 single base substitution T C intron_variant LINC-JP 14 103935303 103935303 single base substitution T C downstream_gene_variant LINC-JP 14 103935303 103935303 single base substitution T C intron_variant LINC-JP 14 103941332 103941332 single base substitution G A intron_variant LINC-JP 14 103941332 103941332 single base substitution G A missense_variant G174R 520G>A LINC-JP 14 103941332 103941332 single base substitution G A missense_variant G2R 4G>A LINC-JP 14 103941332 103941332 single base substitution G A missense_variant G344R 1030G>A LINC-JP 14 103941332 103941332 single base substitution G A missense_variant G407R 1219G>A LINC-JP 14 103941332 103941332 single base substitution G A missense_variant G423R 1267G>A LINC-JP 14 103941332 103941332 single base substitution G A missense_variant G446R 1336G>A LINC-JP 14 103941332 103941332 single base substitution G A splice_region_variant LINC-JP 14 103941332 103941332 single base substitution G A upstream_gene_variant LINC-JP 14 103941333 103941333 single base substitution G T exon_variant LINC-JP 14 103941333 103941333 single base substitution G T intron_variant LINC-JP 14 103941333 103941333 single base substitution G T missense_variant G174V 521G>T LINC-JP 14 103941333 103941333 single base substitution G T missense_variant G2V 5G>T LINC-JP 14 103941333 103941333 single base substitution G T missense_variant G344V 1031G>T LINC-JP 14 103941333 103941333 single base substitution G T missense_variant G407V 1220G>T LINC-JP 14 103941333 103941333 single base substitution G T missense_variant G423V 1268G>T LINC-JP 14 103941333 103941333 single base substitution G T missense_variant G446V 1337G>T LINC-JP 14 103941333 103941333 single base substitution G T upstream_gene_variant LINC-JP 14 103946657 103946657 single base substitution A G intron_variant LINC-JP 14 103950513 103950513 single base substitution C T intron_variant LINC-JP 14 103958094 103958094 single base substitution C G exon_variant LINC-JP 14 103958094 103958094 single base substitution C G intron_variant LINC-JP 14 103960310 103960310 single base substitution C T downstream_gene_variant LINC-JP 14 103960310 103960310 single base substitution C T intron_variant LINC-JP 14 103960310 103960310 single base substitution C T upstream_gene_variant LINC-JP 14 103966026 103966026 single base substitution C T exon_variant LINC-JP 14 103966026 103966026 single base substitution C T intron_variant LINC-JP 14 103966196 103966196 single base substitution T G exon_variant LINC-JP 14 103966196 103966196 single base substitution T G intron_variant LINC-JP 14 103966989 103966989 single base substitution C A intron_variant LIRI-JP 14 103846734 103846734 single base substitution G A upstream_gene_variant LIRI-JP 14 103849135 103849140 deletion of <=200bp ACCCAG - upstream_gene_variant LIRI-JP 14 103852737 103852737 single base substitution A G intron_variant LIRI-JP 14 103853385 103853385 single base substitution A G intron_variant LIRI-JP 14 103853501 103853501 single base substitution A G intron_variant LIRI-JP 14 103853640 103853640 single base substitution A G intron_variant LIRI-JP 14 103854127 103854127 single base substitution A G intron_variant LIRI-JP 14 103864390 103864390 single base substitution G A intron_variant LIRI-JP 14 103867147 103867147 single base substitution C G intron_variant LIRI-JP 14 103867147 103867147 single base substitution C G upstream_gene_variant LIRI-JP 14 103867752 103867752 single base substitution C G intron_variant LIRI-JP 14 103867752 103867752 single base substitution C G upstream_gene_variant LIRI-JP 14 103869120 103869120 single base substitution A G intron_variant LIRI-JP 14 103869120 103869120 single base substitution A G upstream_gene_variant LIRI-JP 14 103869421 103869421 single base substitution G C intron_variant LIRI-JP 14 103869421 103869421 single base substitution G C upstream_gene_variant LIRI-JP 14 103869837 103869837 single base substitution A G intron_variant LIRI-JP 14 103869837 103869837 single base substitution A G upstream_gene_variant LIRI-JP 14 103870579 103870579 single base substitution A T intron_variant LIRI-JP 14 103870579 103870579 single base substitution A T upstream_gene_variant LIRI-JP 14 103870927 103870927 single base substitution A G intron_variant LIRI-JP 14 103870927 103870927 single base substitution A G upstream_gene_variant LIRI-JP 14 103871237 103871237 single base substitution C G intron_variant LIRI-JP 14 103871237 103871237 single base substitution C G upstream_gene_variant LIRI-JP 14 103873518 103873518 single base substitution A G intron_variant LIRI-JP 14 103873661 103873661 single base substitution A G intron_variant LIRI-JP 14 103874281 103874281 single base substitution T A intron_variant LIRI-JP 14 103879430 103879430 single base substitution C A intron_variant LIRI-JP 14 103879430 103879430 single base substitution C A upstream_gene_variant LIRI-JP 14 103879544 103879544 single base substitution T C intron_variant LIRI-JP 14 103879544 103879544 single base substitution T C upstream_gene_variant LIRI-JP 14 103882937 103882937 single base substitution A C intron_variant LIRI-JP 14 103882937 103882937 single base substitution A C upstream_gene_variant LIRI-JP 14 103884268 103884268 single base substitution T C intron_variant LIRI-JP 14 103886132 103886132 single base substitution G T intron_variant LIRI-JP 14 103886339 103886339 single base substitution C G intron_variant LIRI-JP 14 103888144 103888144 single base substitution C T intron_variant LIRI-JP 14 103889674 103889674 single base substitution C T intron_variant LIRI-JP 14 103890430 103890430 single base substitution A T intron_variant LIRI-JP 14 103894580 103894580 deletion of <=200bp T - intron_variant LIRI-JP 14 103894580 103894580 deletion of <=200bp T - upstream_gene_variant LIRI-JP 14 103895028 103895028 single base substitution A G downstream_gene_variant LIRI-JP 14 103895028 103895028 single base substitution A G intron_variant LIRI-JP 14 103895028 103895028 single base substitution A G upstream_gene_variant LIRI-JP 14 103895246 103895246 single base substitution G T downstream_gene_variant LIRI-JP 14 103895246 103895246 single base substitution G T intron_variant LIRI-JP 14 103895246 103895246 single base substitution G T upstream_gene_variant LIRI-JP 14 103895686 103895686 single base substitution A G downstream_gene_variant LIRI-JP 14 103895686 103895686 single base substitution A G exon_variant LIRI-JP 14 103895686 103895686 single base substitution A G intron_variant LIRI-JP 14 103899394 103899394 single base substitution C T downstream_gene_variant LIRI-JP 14 103899394 103899394 single base substitution C T intron_variant LIRI-JP 14 103899442 103899442 single base substitution A T downstream_gene_variant LIRI-JP 14 103899442 103899442 single base substitution A T intron_variant LIRI-JP 14 103899928 103899928 single base substitution A T intron_variant LIRI-JP 14 103900332 103900332 single base substitution T C intron_variant LIRI-JP 14 103900752 103900752 single base substitution A T intron_variant LIRI-JP 14 103901278 103901278 single base substitution G A intron_variant LIRI-JP 14 103901402 103901402 single base substitution C T intron_variant LIRI-JP 14 103907915 103907915 single base substitution G A intron_variant LIRI-JP 14 103908071 103908071 single base substitution A G intron_variant LIRI-JP 14 103908132 103908132 single base substitution G A intron_variant LIRI-JP 14 103913717 103913717 single base substitution A T intron_variant LIRI-JP 14 103914587 103914587 single base substitution A C intron_variant LIRI-JP 14 103915699 103915699 single base substitution G A intron_variant LIRI-JP 14 103915699 103915699 single base substitution G T intron_variant LIRI-JP 14 103919372 103919372 single base substitution C G downstream_gene_variant LIRI-JP 14 103919372 103919372 single base substitution C G intron_variant LIRI-JP 14 103920161 103920161 single base substitution C A downstream_gene_variant LIRI-JP 14 103920161 103920161 single base substitution C A intron_variant LIRI-JP 14 103920312 103920312 single base substitution A G downstream_gene_variant LIRI-JP 14 103920312 103920312 single base substitution A G intron_variant LIRI-JP 14 103921028 103921028 single base substitution C T downstream_gene_variant LIRI-JP 14 103921028 103921028 single base substitution C T intron_variant LIRI-JP 14 103926496 103926496 single base substitution C T downstream_gene_variant LIRI-JP 14 103926496 103926496 single base substitution C T intron_variant LIRI-JP 14 103926773 103926773 single base substitution A G downstream_gene_variant LIRI-JP 14 103926773 103926773 single base substitution A G intron_variant LIRI-JP 14 103927229 103927229 single base substitution C T downstream_gene_variant LIRI-JP 14 103927229 103927229 single base substitution C T intron_variant LIRI-JP 14 103927229 103927229 single base substitution C T upstream_gene_variant LIRI-JP 14 103930528 103930528 single base substitution A G intron_variant LIRI-JP 14 103930528 103930528 single base substitution A G upstream_gene_variant LIRI-JP 14 103931344 103931344 single base substitution G A intron_variant LIRI-JP 14 103931344 103931344 single base substitution G A upstream_gene_variant LIRI-JP 14 103933212 103933212 single base substitution A G downstream_gene_variant LIRI-JP 14 103933212 103933212 single base substitution A G intron_variant LIRI-JP 14 103933212 103933212 single base substitution A G upstream_gene_variant LIRI-JP 14 103934796 103934796 single base substitution G T downstream_gene_variant LIRI-JP 14 103934796 103934796 single base substitution G T intron_variant LIRI-JP 14 103935293 103935293 single base substitution A G downstream_gene_variant LIRI-JP 14 103935293 103935293 single base substitution A G intron_variant LIRI-JP 14 103936481 103936481 single base substitution G A downstream_gene_variant LIRI-JP 14 103936481 103936481 single base substitution G A intron_variant LIRI-JP 14 103936481 103936481 single base substitution G A upstream_gene_variant LIRI-JP 14 103938313 103938313 single base substitution C T downstream_gene_variant LIRI-JP 14 103938313 103938313 single base substitution C T intron_variant LIRI-JP 14 103938313 103938313 single base substitution C T upstream_gene_variant LIRI-JP 14 103939606 103939606 single base substitution A G downstream_gene_variant LIRI-JP 14 103939606 103939606 single base substitution A G intron_variant LIRI-JP 14 103939606 103939606 single base substitution A G upstream_gene_variant LIRI-JP 14 103944562 103944562 single base substitution G A intron_variant LIRI-JP 14 103945184 103945184 single base substitution G T intron_variant LIRI-JP 14 103947527 103947527 single base substitution G T intron_variant LIRI-JP 14 103949937 103949937 single base substitution G T intron_variant LIRI-JP 14 103951897 103951897 single base substitution A G intron_variant LIRI-JP 14 103951897 103951897 single base substitution A G upstream_gene_variant LIRI-JP 14 103953780 103953780 single base substitution G T intron_variant LIRI-JP 14 103953780 103953780 single base substitution G T upstream_gene_variant LIRI-JP 14 103955900 103955900 single base substitution A G exon_variant LIRI-JP 14 103955900 103955900 single base substitution A G intron_variant LIRI-JP 14 103955900 103955900 single base substitution A G upstream_gene_variant LIRI-JP 14 103956266 103956266 single base substitution A T exon_variant LIRI-JP 14 103956266 103956266 single base substitution A T intron_variant LIRI-JP 14 103956266 103956266 single base substitution A T upstream_gene_variant LIRI-JP 14 103956284 103956284 deletion of <=200bp A - exon_variant LIRI-JP 14 103956284 103956284 deletion of <=200bp A - intron_variant LIRI-JP 14 103956284 103956284 deletion of <=200bp A - upstream_gene_variant LIRI-JP 14 103956408 103956408 single base substitution A G exon_variant LIRI-JP 14 103956408 103956408 single base substitution A G intron_variant LIRI-JP 14 103956408 103956408 single base substitution A G upstream_gene_variant LIRI-JP 14 103958212 103958212 single base substitution G A exon_variant LIRI-JP 14 103958212 103958212 single base substitution G A intron_variant LIRI-JP 14 103958212 103958212 single base substitution G A missense_variant R149H 446G>A LIRI-JP 14 103958212 103958212 single base substitution G A missense_variant R313H 938G>A LIRI-JP 14 103958212 103958212 single base substitution G A missense_variant R483H 1448G>A LIRI-JP 14 103958212 103958212 single base substitution G A missense_variant R546H 1637G>A LIRI-JP 14 103958212 103958212 single base substitution G A missense_variant R562H 1685G>A LIRI-JP 14 103958212 103958212 single base substitution G A missense_variant R585H 1754G>A LIRI-JP 14 103959327 103959327 single base substitution G T downstream_gene_variant LIRI-JP 14 103959327 103959327 single base substitution G T intron_variant LIRI-JP 14 103966683 103966683 single base substitution A G intron_variant LIRI-JP 14 103967517 103967517 single base substitution G A intron_variant LIRI-JP 14 103967706 103967706 deletion of <=200bp G - intron_variant LIRI-JP 14 103968557 103968557 single base substitution C G intron_variant LIRI-JP 14 103969423 103969423 single base substitution G A downstream_gene_variant LIRI-JP 14 103969423 103969423 single base substitution G A exon_variant LIRI-JP 14 103969423 103969423 single base substitution G A synonymous_variant A176A 528G>A LIRI-JP 14 103969423 103969423 single base substitution G A synonymous_variant A285A 855G>A LIRI-JP 14 103969423 103969423 single base substitution G A synonymous_variant A458A 1374G>A LIRI-JP 14 103969423 103969423 single base substitution G A synonymous_variant A613A 1839G>A LIRI-JP 14 103969423 103969423 single base substitution G A synonymous_variant A667A 2001G>A LIRI-JP 14 103969423 103969423 single base substitution G A synonymous_variant A683A 2049G>A LIRI-JP 14 103969423 103969423 single base substitution G A synonymous_variant A698A 2094G>A LIRI-JP 14 103969423 103969423 single base substitution G A synonymous_variant A706A 2118G>A LIRI-JP 14 103969423 103969423 single base substitution G A synonymous_variant A707A 2121G>A LIRI-JP 14 103969423 103969423 single base substitution G A synonymous_variant A730A 2190G>A LIRI-JP 14 103971465 103971465 single base substitution A G downstream_gene_variant LIRI-JP 14 103972919 103972919 single base substitution T G downstream_gene_variant LUSC-KR 14 103848183 103848183 single base substitution T C upstream_gene_variant LUSC-KR 14 103848558 103848558 single base substitution T A upstream_gene_variant LUSC-KR 14 103855962 103855962 single base substitution C T intron_variant LUSC-KR 14 103873187 103873187 single base substitution A C intron_variant LUSC-KR 14 103877443 103877443 single base substitution C G intron_variant LUSC-KR 14 103878481 103878481 single base substitution G A intron_variant LUSC-KR 14 103879187 103879187 single base substitution T C intron_variant LUSC-KR 14 103879187 103879187 single base substitution T C upstream_gene_variant LUSC-KR 14 103887869 103887869 single base substitution G T intron_variant LUSC-KR 14 103890396 103890396 single base substitution T G intron_variant LUSC-KR 14 103892087 103892087 single base substitution G T intron_variant LUSC-KR 14 103892087 103892087 single base substitution G T upstream_gene_variant LUSC-KR 14 103900993 103900993 single base substitution T C intron_variant LUSC-KR 14 103908537 103908537 single base substitution C G intron_variant LUSC-KR 14 103918827 103918827 single base substitution G T downstream_gene_variant LUSC-KR 14 103918827 103918827 single base substitution G T intron_variant LUSC-KR 14 103919355 103919355 single base substitution G A downstream_gene_variant LUSC-KR 14 103919355 103919355 single base substitution G A intron_variant LUSC-KR 14 103920069 103920069 single base substitution C T downstream_gene_variant LUSC-KR 14 103920069 103920069 single base substitution C T intron_variant LUSC-KR 14 103936674 103936674 single base substitution C A downstream_gene_variant LUSC-KR 14 103936674 103936674 single base substitution C A intron_variant LUSC-KR 14 103936674 103936674 single base substitution C A upstream_gene_variant LUSC-KR 14 103938750 103938750 single base substitution G A downstream_gene_variant LUSC-KR 14 103938750 103938750 single base substitution G A intron_variant LUSC-KR 14 103938750 103938750 single base substitution G A upstream_gene_variant LUSC-KR 14 103940841 103940841 single base substitution C G intron_variant LUSC-KR 14 103940841 103940841 single base substitution C G upstream_gene_variant LUSC-KR 14 103942709 103942709 single base substitution G T intron_variant LUSC-KR 14 103952173 103952173 single base substitution C T intron_variant LUSC-KR 14 103952173 103952173 single base substitution C T upstream_gene_variant LUSC-KR 14 103952907 103952907 single base substitution A G intron_variant LUSC-KR 14 103952907 103952907 single base substitution A G upstream_gene_variant LUSC-KR 14 103953287 103953287 single base substitution C G intron_variant LUSC-KR 14 103953287 103953287 single base substitution C G upstream_gene_variant LUSC-KR 14 103969909 103969909 single base substitution A G 3_prime_UTR_variant LUSC-KR 14 103969909 103969909 single base substitution A G downstream_gene_variant LUSC-KR 14 103969909 103969909 single base substitution A G exon_variant LUSC-US 14 103915265 103915265 single base substitution G T exon_variant LUSC-US 14 103915265 103915265 single base substitution G T stop_gained E103* 307G>T LUSC-US 14 103915265 103915265 single base substitution G T stop_gained E85* 253G>T LUSC-US 14 103915265 103915265 single base substitution G T stop_gained E91* 271G>T LUSC-US 14 103931944 103931944 single base substitution C T downstream_gene_variant LUSC-US 14 103931944 103931944 single base substitution C T exon_variant LUSC-US 14 103931944 103931944 single base substitution C T intron_variant LUSC-US 14 103931944 103931944 single base substitution C T synonymous_variant F197F 591C>T LUSC-US 14 103931944 103931944 single base substitution C T synonymous_variant F220F 660C>T LUSC-US 14 103931944 103931944 single base substitution C T upstream_gene_variant LUSC-US 14 103932708 103932708 single base substitution C A downstream_gene_variant LUSC-US 14 103932708 103932708 single base substitution C A exon_variant LUSC-US 14 103932708 103932708 single base substitution C A intron_variant LUSC-US 14 103932708 103932708 single base substitution C A missense_variant A230E 689C>A LUSC-US 14 103932708 103932708 single base substitution C A missense_variant A309E 926C>A LUSC-US 14 103932708 103932708 single base substitution C A missense_variant A332E 995C>A LUSC-US 14 103932708 103932708 single base substitution C A missense_variant A76E 227C>A LUSC-US 14 103932708 103932708 single base substitution C A upstream_gene_variant LUSC-US 14 103941431 103941431 single base substitution A G exon_variant LUSC-US 14 103941431 103941431 single base substitution A G intron_variant LUSC-US 14 103941431 103941431 single base substitution A G missense_variant S207G 619A>G LUSC-US 14 103941431 103941431 single base substitution A G missense_variant S35G 103A>G LUSC-US 14 103941431 103941431 single base substitution A G missense_variant S377G 1129A>G LUSC-US 14 103941431 103941431 single base substitution A G missense_variant S440G 1318A>G LUSC-US 14 103941431 103941431 single base substitution A G missense_variant S456G 1366A>G LUSC-US 14 103941431 103941431 single base substitution A G missense_variant S479G 1435A>G LUSC-US 14 103941431 103941431 single base substitution A G upstream_gene_variant LUSC-US 14 103941438 103941438 single base substitution G T exon_variant LUSC-US 14 103941438 103941438 single base substitution G T intron_variant LUSC-US 14 103941438 103941438 single base substitution G T missense_variant S209I 626G>T LUSC-US 14 103941438 103941438 single base substitution G T missense_variant S379I 1136G>T LUSC-US 14 103941438 103941438 single base substitution G T missense_variant S37I 110G>T LUSC-US 14 103941438 103941438 single base substitution G T missense_variant S442I 1325G>T LUSC-US 14 103941438 103941438 single base substitution G T missense_variant S458I 1373G>T LUSC-US 14 103941438 103941438 single base substitution G T missense_variant S481I 1442G>T LUSC-US 14 103941438 103941438 single base substitution G T upstream_gene_variant LUSC-US 14 103946810 103946810 single base substitution G A exon_variant LUSC-US 14 103946810 103946810 single base substitution G A intron_variant LUSC-US 14 103946810 103946810 single base substitution G A synonymous_variant Q102Q 306G>A LUSC-US 14 103946810 103946810 single base substitution G A synonymous_variant Q274Q 822G>A LUSC-US 14 103946810 103946810 single base substitution G A synonymous_variant Q444Q 1332G>A LUSC-US 14 103946810 103946810 single base substitution G A synonymous_variant Q507Q 1521G>A LUSC-US 14 103946810 103946810 single base substitution G A synonymous_variant Q523Q 1569G>A LUSC-US 14 103946810 103946810 single base substitution G A synonymous_variant Q546Q 1638G>A LUSC-US 14 103946810 103946810 single base substitution G A synonymous_variant Q58Q 174G>A MALY-DE 14 103853892 103853892 single base substitution C G intron_variant MALY-DE 14 103861564 103861564 single base substitution A G intron_variant MALY-DE 14 103865506 103865506 single base substitution T A intron_variant MALY-DE 14 103886605 103886605 single base substitution G A intron_variant MALY-DE 14 103890939 103890939 single base substitution A G intron_variant MALY-DE 14 103890939 103890939 single base substitution A G upstream_gene_variant MALY-DE 14 103898745 103898745 single base substitution G C downstream_gene_variant MALY-DE 14 103898745 103898745 single base substitution G C intron_variant MALY-DE 14 103898760 103898760 single base substitution A T downstream_gene_variant MALY-DE 14 103898760 103898760 single base substitution A T intron_variant MALY-DE 14 103900860 103900860 single base substitution G C intron_variant MALY-DE 14 103908794 103908794 single base substitution G A intron_variant MALY-DE 14 103921696 103921696 single base substitution A T downstream_gene_variant MALY-DE 14 103921696 103921696 single base substitution A T intron_variant MALY-DE 14 103955367 103955367 single base substitution A G intron_variant MALY-DE 14 103955367 103955367 single base substitution A G upstream_gene_variant MALY-DE 14 103958400 103958400 single base substitution G A downstream_gene_variant MALY-DE 14 103958400 103958400 single base substitution G A intron_variant MALY-DE 14 103963530 103963530 single base substitution T C intron_variant MALY-DE 14 103963530 103963530 single base substitution T C upstream_gene_variant MALY-DE 14 103966222 103966222 single base substitution C T exon_variant MALY-DE 14 103966222 103966222 single base substitution C T intron_variant MALY-DE 14 103973993 103973993 single base substitution G C downstream_gene_variant MELA-AU 14 103846916 103846916 single base substitution G A upstream_gene_variant MELA-AU 14 103847039 103847039 single base substitution G A upstream_gene_variant MELA-AU 14 103847276 103847276 single base substitution G A upstream_gene_variant MELA-AU 14 103848041 103848041 single base substitution G A upstream_gene_variant MELA-AU 14 103848061 103848061 single base substitution G A upstream_gene_variant MELA-AU 14 103848111 103848111 single base substitution C T upstream_gene_variant MELA-AU 14 103848147 103848147 single base substitution G A upstream_gene_variant MELA-AU 14 103848275 103848275 single base substitution G A upstream_gene_variant MELA-AU 14 103848310 103848310 single base substitution C T upstream_gene_variant MELA-AU 14 103848926 103848926 single base substitution C A upstream_gene_variant MELA-AU 14 103849044 103849044 single base substitution G A upstream_gene_variant MELA-AU 14 103849477 103849477 single base substitution T A upstream_gene_variant MELA-AU 14 103850113 103850113 single base substitution C A upstream_gene_variant MELA-AU 14 103850160 103850160 single base substitution G A upstream_gene_variant MELA-AU 14 103850500 103850500 single base substitution A T upstream_gene_variant MELA-AU 14 103850823 103850823 single base substitution G A upstream_gene_variant MELA-AU 14 103851417 103851417 single base substitution G A upstream_gene_variant MELA-AU 14 103851638 103851638 single base substitution A G upstream_gene_variant MELA-AU 14 103851708 103851708 single base substitution C T upstream_gene_variant MELA-AU 14 103851768 103851768 single base substitution G A 5_prime_UTR_variant MELA-AU 14 103851768 103851768 single base substitution G A exon_variant MELA-AU 14 103851768 103851768 single base substitution G A upstream_gene_variant MELA-AU 14 103854053 103854053 single base substitution C A intron_variant MELA-AU 14 103854281 103854281 deletion of <=200bp T - intron_variant MELA-AU 14 103854791 103854791 single base substitution C T intron_variant MELA-AU 14 103855194 103855194 single base substitution T A intron_variant MELA-AU 14 103855966 103855966 single base substitution C T intron_variant MELA-AU 14 103856072 103856072 single base substitution G A intron_variant MELA-AU 14 103856268 103856268 single base substitution G A intron_variant MELA-AU 14 103857242 103857242 single base substitution C T intron_variant MELA-AU 14 103858447 103858447 single base substitution A G intron_variant MELA-AU 14 103859163 103859163 single base substitution C T intron_variant MELA-AU 14 103861892 103861892 single base substitution G C intron_variant MELA-AU 14 103862543 103862543 single base substitution C T intron_variant MELA-AU 14 103863503 103863503 single base substitution C T intron_variant MELA-AU 14 103863645 103863645 single base substitution G A intron_variant MELA-AU 14 103863752 103863752 single base substitution C T intron_variant MELA-AU 14 103864154 103864154 single base substitution T C intron_variant MELA-AU 14 103865067 103865067 single base substitution G A intron_variant MELA-AU 14 103866779 103866779 single base substitution T C intron_variant MELA-AU 14 103866779 103866779 single base substitution T C upstream_gene_variant MELA-AU 14 103866983 103866983 single base substitution C T intron_variant MELA-AU 14 103866983 103866983 single base substitution C T upstream_gene_variant MELA-AU 14 103867164 103867164 single base substitution C T intron_variant MELA-AU 14 103867164 103867164 single base substitution C T upstream_gene_variant MELA-AU 14 103868236 103868236 single base substitution C T intron_variant MELA-AU 14 103868236 103868236 single base substitution C T upstream_gene_variant MELA-AU 14 103870296 103870296 single base substitution A G intron_variant MELA-AU 14 103870296 103870296 single base substitution A G upstream_gene_variant MELA-AU 14 103870483 103870483 single base substitution C T intron_variant MELA-AU 14 103870483 103870483 single base substitution C T upstream_gene_variant MELA-AU 14 103870829 103870829 single base substitution G A intron_variant MELA-AU 14 103870829 103870829 single base substitution G A upstream_gene_variant MELA-AU 14 103870904 103870904 single base substitution G A intron_variant MELA-AU 14 103870904 103870904 single base substitution G A upstream_gene_variant MELA-AU 14 103871143 103871144 multiple base substitution (>=2bp and <=200bp) CC TT intron_variant MELA-AU 14 103871143 103871144 multiple base substitution (>=2bp and <=200bp) CC TT upstream_gene_variant MELA-AU 14 103871452 103871452 single base substitution C T exon_variant MELA-AU 14 103871452 103871452 single base substitution C T missense_variant R19C 55C>T MELA-AU 14 103871452 103871452 single base substitution C T missense_variant R31C 91C>T MELA-AU 14 103871452 103871452 single base substitution C T upstream_gene_variant MELA-AU 14 103871589 103871589 single base substitution C T exon_variant MELA-AU 14 103871589 103871589 single base substitution C T synonymous_variant I64I 192C>T MELA-AU 14 103871589 103871589 single base substitution C T synonymous_variant I76I 228C>T MELA-AU 14 103871669 103871669 single base substitution G A intron_variant MELA-AU 14 103871718 103871718 single base substitution C T intron_variant MELA-AU 14 103872956 103872956 single base substitution C T intron_variant MELA-AU 14 103873395 103873395 single base substitution C T intron_variant MELA-AU 14 103873571 103873571 single base substitution C T intron_variant MELA-AU 14 103875018 103875018 single base substitution T C intron_variant MELA-AU 14 103876459 103876459 insertion of <=200bp - T intron_variant MELA-AU 14 103876552 103876553 multiple base substitution (>=2bp and <=200bp) CC TT intron_variant MELA-AU 14 103876887 103876887 single base substitution C T intron_variant MELA-AU 14 103877943 103877943 single base substitution A G intron_variant MELA-AU 14 103879241 103879241 single base substitution C T intron_variant MELA-AU 14 103879241 103879241 single base substitution C T upstream_gene_variant MELA-AU 14 103881094 103881094 single base substitution C T intron_variant MELA-AU 14 103881094 103881094 single base substitution C T upstream_gene_variant MELA-AU 14 103881316 103881316 single base substitution C T intron_variant MELA-AU 14 103881316 103881316 single base substitution C T upstream_gene_variant MELA-AU 14 103882722 103882722 single base substitution G A intron_variant MELA-AU 14 103882722 103882722 single base substitution G A upstream_gene_variant MELA-AU 14 103884158 103884158 single base substitution C T intron_variant MELA-AU 14 103886223 103886223 single base substitution G A intron_variant MELA-AU 14 103886296 103886296 single base substitution G A intron_variant MELA-AU 14 103886657 103886657 single base substitution C T intron_variant MELA-AU 14 103888899 103888899 single base substitution G A intron_variant MELA-AU 14 103889479 103889479 single base substitution C T intron_variant MELA-AU 14 103889826 103889826 single base substitution T C intron_variant MELA-AU 14 103889936 103889936 single base substitution T C intron_variant MELA-AU 14 103890107 103890107 single base substitution G A intron_variant MELA-AU 14 103890245 103890245 single base substitution T C intron_variant MELA-AU 14 103890771 103890771 single base substitution A G intron_variant MELA-AU 14 103890771 103890771 single base substitution A G upstream_gene_variant MELA-AU 14 103890879 103890879 single base substitution A C intron_variant MELA-AU 14 103890879 103890879 single base substitution A C upstream_gene_variant MELA-AU 14 103891289 103891289 single base substitution A G intron_variant MELA-AU 14 103891289 103891289 single base substitution A G upstream_gene_variant MELA-AU 14 103891627 103891627 single base substitution C T intron_variant MELA-AU 14 103891627 103891627 single base substitution C T upstream_gene_variant MELA-AU 14 103891681 103891681 single base substitution C T intron_variant MELA-AU 14 103891681 103891681 single base substitution C T upstream_gene_variant MELA-AU 14 103891789 103891789 single base substitution G A intron_variant MELA-AU 14 103891789 103891789 single base substitution G A upstream_gene_variant MELA-AU 14 103892113 103892113 single base substitution C T intron_variant MELA-AU 14 103892113 103892113 single base substitution C T upstream_gene_variant MELA-AU 14 103892958 103892958 single base substitution C T intron_variant MELA-AU 14 103892958 103892958 single base substitution C T upstream_gene_variant MELA-AU 14 103893103 103893103 single base substitution C T intron_variant MELA-AU 14 103893103 103893103 single base substitution C T upstream_gene_variant MELA-AU 14 103893387 103893388 deletion of <=200bp TC - intron_variant MELA-AU 14 103893387 103893388 deletion of <=200bp TC - upstream_gene_variant MELA-AU 14 103894205 103894205 single base substitution G C intron_variant MELA-AU 14 103894205 103894205 single base substitution G C upstream_gene_variant MELA-AU 14 103894594 103894594 single base substitution C T intron_variant MELA-AU 14 103894594 103894594 single base substitution C T upstream_gene_variant MELA-AU 14 103894769 103894769 single base substitution C T exon_variant MELA-AU 14 103894769 103894769 single base substitution C T intron_variant MELA-AU 14 103894769 103894769 single base substitution C T synonymous_variant L85L 253C>T MELA-AU 14 103894769 103894769 single base substitution C T synonymous_variant L97L 289C>T MELA-AU 14 103894769 103894769 single base substitution C T upstream_gene_variant MELA-AU 14 103894897 103894897 single base substitution C T downstream_gene_variant MELA-AU 14 103894897 103894897 single base substitution C T intron_variant MELA-AU 14 103894897 103894897 single base substitution C T upstream_gene_variant MELA-AU 14 103896060 103896060 single base substitution C A downstream_gene_variant MELA-AU 14 103896060 103896060 single base substitution C A intron_variant MELA-AU 14 103896247 103896247 single base substitution T A downstream_gene_variant MELA-AU 14 103896247 103896247 single base substitution T A intron_variant MELA-AU 14 103896865 103896865 single base substitution T C downstream_gene_variant MELA-AU 14 103896865 103896865 single base substitution T C intron_variant MELA-AU 14 103897465 103897465 single base substitution C T downstream_gene_variant MELA-AU 14 103897465 103897465 single base substitution C T intron_variant MELA-AU 14 103897850 103897850 single base substitution C T downstream_gene_variant MELA-AU 14 103897850 103897850 single base substitution C T intron_variant MELA-AU 14 103898320 103898320 deletion of <=200bp T - downstream_gene_variant MELA-AU 14 103898320 103898320 deletion of <=200bp T - intron_variant MELA-AU 14 103898575 103898575 single base substitution T C downstream_gene_variant MELA-AU 14 103898575 103898575 single base substitution T C intron_variant MELA-AU 14 103898980 103898980 single base substitution G A downstream_gene_variant MELA-AU 14 103898980 103898980 single base substitution G A intron_variant MELA-AU 14 103899513 103899513 single base substitution C T downstream_gene_variant MELA-AU 14 103899513 103899513 single base substitution C T intron_variant MELA-AU 14 103899741 103899741 single base substitution C T downstream_gene_variant MELA-AU 14 103899741 103899741 single base substitution C T intron_variant MELA-AU 14 103900134 103900134 single base substitution C T intron_variant MELA-AU 14 103900215 103900215 single base substitution C T intron_variant MELA-AU 14 103900241 103900241 single base substitution C T intron_variant MELA-AU 14 103900242 103900242 single base substitution C T intron_variant MELA-AU 14 103901371 103901371 single base substitution C A intron_variant MELA-AU 14 103902240 103902240 single base substitution A G intron_variant MELA-AU 14 103902617 103902617 single base substitution C T intron_variant MELA-AU 14 103903060 103903060 single base substitution C T intron_variant MELA-AU 14 103903092 103903092 single base substitution G A intron_variant MELA-AU 14 103903107 103903107 single base substitution C T intron_variant MELA-AU 14 103903765 103903765 single base substitution A G intron_variant MELA-AU 14 103904539 103904539 single base substitution C T intron_variant MELA-AU 14 103905479 103905479 single base substitution C T intron_variant MELA-AU 14 103905787 103905787 single base substitution C T intron_variant MELA-AU 14 103906074 103906074 single base substitution T C intron_variant MELA-AU 14 103906520 103906520 single base substitution C A intron_variant MELA-AU 14 103907027 103907027 single base substitution T G intron_variant MELA-AU 14 103907854 103907854 single base substitution A G exon_variant MELA-AU 14 103907854 103907854 single base substitution A G intron_variant MELA-AU 14 103907881 103907881 single base substitution C T exon_variant MELA-AU 14 103907881 103907881 single base substitution C T intron_variant MELA-AU 14 103907936 103907936 single base substitution C T intron_variant MELA-AU 14 103908054 103908054 single base substitution C T intron_variant MELA-AU 14 103908223 103908223 single base substitution C T intron_variant MELA-AU 14 103908630 103908630 single base substitution C T intron_variant MELA-AU 14 103909165 103909165 single base substitution G C intron_variant MELA-AU 14 103909612 103909612 single base substitution A T intron_variant MELA-AU 14 103911542 103911542 single base substitution C T intron_variant MELA-AU 14 103911780 103911780 single base substitution C T intron_variant MELA-AU 14 103911836 103911836 single base substitution C T intron_variant MELA-AU 14 103912432 103912432 single base substitution C T intron_variant MELA-AU 14 103912782 103912782 single base substitution C T intron_variant MELA-AU 14 103913455 103913455 single base substitution C T intron_variant MELA-AU 14 103913567 103913567 single base substitution T C intron_variant MELA-AU 14 103914013 103914014 multiple base substitution (>=2bp and <=200bp) AC TA intron_variant MELA-AU 14 103914902 103914902 single base substitution C T intron_variant MELA-AU 14 103915474 103915474 single base substitution C G intron_variant MELA-AU 14 103916836 103916836 single base substitution C T intron_variant MELA-AU 14 103917186 103917186 single base substitution G A intron_variant MELA-AU 14 103917614 103917614 single base substitution T C intron_variant MELA-AU 14 103918361 103918361 single base substitution C T downstream_gene_variant MELA-AU 14 103918361 103918361 single base substitution C T intron_variant MELA-AU 14 103918503 103918503 single base substitution C T downstream_gene_variant MELA-AU 14 103918503 103918503 single base substitution C T intron_variant MELA-AU 14 103918663 103918663 single base substitution C T downstream_gene_variant MELA-AU 14 103918663 103918663 single base substitution C T intron_variant MELA-AU 14 103919576 103919576 single base substitution C T downstream_gene_variant MELA-AU 14 103919576 103919576 single base substitution C T intron_variant MELA-AU 14 103919966 103919966 single base substitution C T downstream_gene_variant MELA-AU 14 103919966 103919966 single base substitution C T intron_variant MELA-AU 14 103920424 103920424 single base substitution T C downstream_gene_variant MELA-AU 14 103920424 103920424 single base substitution T C intron_variant MELA-AU 14 103920503 103920504 multiple base substitution (>=2bp and <=200bp) CC TT downstream_gene_variant MELA-AU 14 103920503 103920504 multiple base substitution (>=2bp and <=200bp) CC TT intron_variant MELA-AU 14 103921028 103921028 single base substitution C T downstream_gene_variant MELA-AU 14 103921028 103921028 single base substitution C T intron_variant MELA-AU 14 103921064 103921064 single base substitution G A downstream_gene_variant MELA-AU 14 103921064 103921064 single base substitution G A intron_variant MELA-AU 14 103921413 103921413 single base substitution T A downstream_gene_variant MELA-AU 14 103921413 103921413 single base substitution T A intron_variant MELA-AU 14 103921686 103921686 single base substitution C T downstream_gene_variant MELA-AU 14 103921686 103921686 single base substitution C T intron_variant MELA-AU 14 103921971 103921972 multiple base substitution (>=2bp and <=200bp) AC CT downstream_gene_variant MELA-AU 14 103921971 103921972 multiple base substitution (>=2bp and <=200bp) AC CT intron_variant MELA-AU 14 103922599 103922599 single base substitution C T downstream_gene_variant MELA-AU 14 103922599 103922599 single base substitution C T intron_variant MELA-AU 14 103922755 103922755 single base substitution C T downstream_gene_variant MELA-AU 14 103922755 103922755 single base substitution C T intron_variant MELA-AU 14 103922848 103922848 single base substitution C T downstream_gene_variant MELA-AU 14 103922848 103922848 single base substitution C T intron_variant MELA-AU 14 103923193 103923193 single base substitution T C downstream_gene_variant MELA-AU 14 103923193 103923193 single base substitution T C intron_variant MELA-AU 14 103923854 103923854 single base substitution C T downstream_gene_variant MELA-AU 14 103923854 103923854 single base substitution C T intron_variant MELA-AU 14 103923898 103923898 single base substitution C T downstream_gene_variant MELA-AU 14 103923898 103923898 single base substitution C T intron_variant MELA-AU 14 103924045 103924045 single base substitution C T downstream_gene_variant MELA-AU 14 103924045 103924045 single base substitution C T intron_variant MELA-AU 14 103924165 103924165 single base substitution C T downstream_gene_variant MELA-AU 14 103924165 103924165 single base substitution C T intron_variant MELA-AU 14 103924912 103924912 single base substitution C T downstream_gene_variant MELA-AU 14 103924912 103924912 single base substitution C T intron_variant MELA-AU 14 103925063 103925064 multiple base substitution (>=2bp and <=200bp) GG AA downstream_gene_variant MELA-AU 14 103925063 103925064 multiple base substitution (>=2bp and <=200bp) GG AA intron_variant MELA-AU 14 103925063 103925064 multiple base substitution (>=2bp and <=200bp) GG AA missense_variant G162S 484G>A MELA-AU 14 103925063 103925064 multiple base substitution (>=2bp and <=200bp) GG AA splice_acceptor_variant MELA-AU 14 103925559 103925559 single base substitution C T downstream_gene_variant MELA-AU 14 103925559 103925559 single base substitution C T intron_variant MELA-AU 14 103926453 103926453 single base substitution C T downstream_gene_variant MELA-AU 14 103926453 103926453 single base substitution C T intron_variant MELA-AU 14 103926539 103926539 single base substitution C T downstream_gene_variant MELA-AU 14 103926539 103926539 single base substitution C T intron_variant MELA-AU 14 103926965 103926965 single base substitution G A downstream_gene_variant MELA-AU 14 103926965 103926965 single base substitution G A intron_variant MELA-AU 14 103928195 103928195 single base substitution G A downstream_gene_variant MELA-AU 14 103928195 103928195 single base substitution G A intron_variant MELA-AU 14 103928195 103928195 single base substitution G A upstream_gene_variant MELA-AU 14 103928220 103928220 single base substitution G A downstream_gene_variant MELA-AU 14 103928220 103928220 single base substitution G A intron_variant MELA-AU 14 103928220 103928220 single base substitution G A upstream_gene_variant MELA-AU 14 103928497 103928497 single base substitution C T downstream_gene_variant MELA-AU 14 103928497 103928497 single base substitution C T intron_variant MELA-AU 14 103928497 103928497 single base substitution C T upstream_gene_variant MELA-AU 14 103928525 103928525 single base substitution G A intron_variant MELA-AU 14 103928525 103928525 single base substitution G A upstream_gene_variant MELA-AU 14 103928532 103928532 single base substitution G A intron_variant MELA-AU 14 103928532 103928532 single base substitution G A upstream_gene_variant MELA-AU 14 103928766 103928766 single base substitution C T exon_variant MELA-AU 14 103928766 103928766 single base substitution C T intron_variant MELA-AU 14 103928766 103928766 single base substitution C T missense_variant H152Y 454C>T MELA-AU 14 103928766 103928766 single base substitution C T missense_variant H170Y 508C>T MELA-AU 14 103928766 103928766 single base substitution C T missense_variant H193Y 577C>T MELA-AU 14 103928766 103928766 single base substitution C T upstream_gene_variant MELA-AU 14 103930055 103930055 single base substitution C T intron_variant MELA-AU 14 103930055 103930055 single base substitution C T upstream_gene_variant MELA-AU 14 103931416 103931416 single base substitution T C intron_variant MELA-AU 14 103931416 103931416 single base substitution T C upstream_gene_variant MELA-AU 14 103931831 103931831 single base substitution C T intron_variant MELA-AU 14 103931831 103931831 single base substitution C T upstream_gene_variant MELA-AU 14 103931866 103931866 single base substitution C T intron_variant MELA-AU 14 103931866 103931866 single base substitution C T upstream_gene_variant MELA-AU 14 103932083 103932083 single base substitution T C downstream_gene_variant MELA-AU 14 103932083 103932083 single base substitution T C exon_variant MELA-AU 14 103932083 103932083 single base substitution T C intron_variant MELA-AU 14 103932083 103932083 single base substitution T C missense_variant Y11H 31T>C MELA-AU 14 103932083 103932083 single base substitution T C missense_variant Y244H 730T>C MELA-AU 14 103932083 103932083 single base substitution T C missense_variant Y267H 799T>C MELA-AU 14 103932083 103932083 single base substitution T C upstream_gene_variant MELA-AU 14 103932147 103932147 single base substitution C T downstream_gene_variant MELA-AU 14 103932147 103932147 single base substitution C T exon_variant MELA-AU 14 103932147 103932147 single base substitution C T intron_variant MELA-AU 14 103932147 103932147 single base substitution C T upstream_gene_variant MELA-AU 14 103932552 103932552 single base substitution T C downstream_gene_variant MELA-AU 14 103932552 103932552 single base substitution T C intron_variant MELA-AU 14 103932552 103932552 single base substitution T C upstream_gene_variant MELA-AU 14 103933082 103933082 single base substitution C T downstream_gene_variant MELA-AU 14 103933082 103933082 single base substitution C T intron_variant MELA-AU 14 103933082 103933082 single base substitution C T upstream_gene_variant MELA-AU 14 103933084 103933084 single base substitution G T downstream_gene_variant MELA-AU 14 103933084 103933084 single base substitution G T intron_variant MELA-AU 14 103933084 103933084 single base substitution G T upstream_gene_variant MELA-AU 14 103933224 103933224 single base substitution C T downstream_gene_variant MELA-AU 14 103933224 103933224 single base substitution C T intron_variant MELA-AU 14 103933224 103933224 single base substitution C T upstream_gene_variant MELA-AU 14 103935503 103935503 single base substitution T A downstream_gene_variant MELA-AU 14 103935503 103935503 single base substitution T A intron_variant MELA-AU 14 103936281 103936281 single base substitution C T downstream_gene_variant MELA-AU 14 103936281 103936281 single base substitution C T intron_variant MELA-AU 14 103936352 103936352 single base substitution C T downstream_gene_variant MELA-AU 14 103936352 103936352 single base substitution C T intron_variant MELA-AU 14 103936352 103936352 single base substitution C T upstream_gene_variant MELA-AU 14 103937150 103937151 multiple base substitution (>=2bp and <=200bp) TG CC downstream_gene_variant MELA-AU 14 103937150 103937151 multiple base substitution (>=2bp and <=200bp) TG CC intron_variant MELA-AU 14 103937150 103937151 multiple base substitution (>=2bp and <=200bp) TG CC upstream_gene_variant MELA-AU 14 103937239 103937239 single base substitution C T downstream_gene_variant MELA-AU 14 103937239 103937239 single base substitution C T intron_variant MELA-AU 14 103937239 103937239 single base substitution C T upstream_gene_variant MELA-AU 14 103937356 103937356 single base substitution C T downstream_gene_variant MELA-AU 14 103937356 103937356 single base substitution C T intron_variant MELA-AU 14 103937356 103937356 single base substitution C T upstream_gene_variant MELA-AU 14 103937637 103937637 single base substitution C T downstream_gene_variant MELA-AU 14 103937637 103937637 single base substitution C T intron_variant MELA-AU 14 103937637 103937637 single base substitution C T upstream_gene_variant MELA-AU 14 103937839 103937839 single base substitution T G downstream_gene_variant MELA-AU 14 103937839 103937839 single base substitution T G intron_variant MELA-AU 14 103937839 103937839 single base substitution T G upstream_gene_variant MELA-AU 14 103937947 103937947 single base substitution C T downstream_gene_variant MELA-AU 14 103937947 103937947 single base substitution C T intron_variant MELA-AU 14 103937947 103937947 single base substitution C T upstream_gene_variant MELA-AU 14 103938431 103938431 single base substitution C T downstream_gene_variant MELA-AU 14 103938431 103938431 single base substitution C T intron_variant MELA-AU 14 103938431 103938431 single base substitution C T upstream_gene_variant MELA-AU 14 103939170 103939170 single base substitution C T downstream_gene_variant MELA-AU 14 103939170 103939170 single base substitution C T intron_variant MELA-AU 14 103939170 103939170 single base substitution C T upstream_gene_variant MELA-AU 14 103939218 103939218 single base substitution C T downstream_gene_variant MELA-AU 14 103939218 103939218 single base substitution C T intron_variant MELA-AU 14 103939218 103939218 single base substitution C T upstream_gene_variant MELA-AU 14 103940751 103940751 single base substitution C T intron_variant MELA-AU 14 103940751 103940751 single base substitution C T upstream_gene_variant MELA-AU 14 103941370 103941370 single base substitution G A exon_variant MELA-AU 14 103941370 103941370 single base substitution G A intron_variant MELA-AU 14 103941370 103941370 single base substitution G A synonymous_variant R14R 42G>A MELA-AU 14 103941370 103941370 single base substitution G A synonymous_variant R186R 558G>A MELA-AU 14 103941370 103941370 single base substitution G A synonymous_variant R356R 1068G>A MELA-AU 14 103941370 103941370 single base substitution G A synonymous_variant R419R 1257G>A MELA-AU 14 103941370 103941370 single base substitution G A synonymous_variant R435R 1305G>A MELA-AU 14 103941370 103941370 single base substitution G A synonymous_variant R458R 1374G>A MELA-AU 14 103941370 103941370 single base substitution G A upstream_gene_variant MELA-AU 14 103941421 103941421 single base substitution C T exon_variant MELA-AU 14 103941421 103941421 single base substitution C T intron_variant MELA-AU 14 103941421 103941421 single base substitution C T synonymous_variant S203S 609C>T MELA-AU 14 103941421 103941421 single base substitution C T synonymous_variant S31S 93C>T MELA-AU 14 103941421 103941421 single base substitution C T synonymous_variant S373S 1119C>T MELA-AU 14 103941421 103941421 single base substitution C T synonymous_variant S436S 1308C>T MELA-AU 14 103941421 103941421 single base substitution C T synonymous_variant S452S 1356C>T MELA-AU 14 103941421 103941421 single base substitution C T synonymous_variant S475S 1425C>T MELA-AU 14 103941421 103941421 single base substitution C T upstream_gene_variant MELA-AU 14 103942304 103942304 single base substitution C T intron_variant MELA-AU 14 103942813 103942814 multiple base substitution (>=2bp and <=200bp) CC TT intron_variant MELA-AU 14 103943353 103943353 single base substitution C T intron_variant MELA-AU 14 103943463 103943463 single base substitution C T intron_variant MELA-AU 14 103944587 103944587 single base substitution G A intron_variant MELA-AU 14 103944709 103944709 single base substitution C T intron_variant MELA-AU 14 103944722 103944722 single base substitution C T intron_variant MELA-AU 14 103944805 103944805 single base substitution C T intron_variant MELA-AU 14 103944821 103944821 single base substitution C T intron_variant MELA-AU 14 103945079 103945079 single base substitution T C intron_variant MELA-AU 14 103946507 103946507 single base substitution C T intron_variant MELA-AU 14 103946661 103946661 single base substitution C T intron_variant MELA-AU 14 103946752 103946752 single base substitution G A exon_variant MELA-AU 14 103946752 103946752 single base substitution G A intron_variant MELA-AU 14 103946752 103946752 single base substitution G A missense_variant R255Q 764G>A MELA-AU 14 103946752 103946752 single base substitution G A missense_variant R39Q 116G>A MELA-AU 14 103946752 103946752 single base substitution G A missense_variant R425Q 1274G>A MELA-AU 14 103946752 103946752 single base substitution G A missense_variant R488Q 1463G>A MELA-AU 14 103946752 103946752 single base substitution G A missense_variant R504Q 1511G>A MELA-AU 14 103946752 103946752 single base substitution G A missense_variant R527Q 1580G>A MELA-AU 14 103946752 103946752 single base substitution G A missense_variant R83Q 248G>A MELA-AU 14 103948517 103948517 single base substitution T C intron_variant MELA-AU 14 103948637 103948637 single base substitution C T intron_variant MELA-AU 14 103948655 103948655 single base substitution C T intron_variant MELA-AU 14 103949086 103949086 single base substitution C T intron_variant MELA-AU 14 103949427 103949427 single base substitution C T intron_variant MELA-AU 14 103949447 103949447 single base substitution C T intron_variant MELA-AU 14 103949510 103949510 single base substitution C T intron_variant MELA-AU 14 103950229 103950229 single base substitution A T intron_variant MELA-AU 14 103950464 103950464 single base substitution C T intron_variant MELA-AU 14 103951665 103951665 single base substitution C T intron_variant MELA-AU 14 103951665 103951665 single base substitution C T upstream_gene_variant MELA-AU 14 103951804 103951804 single base substitution C T intron_variant MELA-AU 14 103951804 103951804 single base substitution C T upstream_gene_variant MELA-AU 14 103952352 103952352 single base substitution G A intron_variant MELA-AU 14 103952352 103952352 single base substitution G A upstream_gene_variant MELA-AU 14 103953639 103953639 single base substitution C T intron_variant MELA-AU 14 103953639 103953639 single base substitution C T upstream_gene_variant MELA-AU 14 103954466 103954466 single base substitution T G intron_variant MELA-AU 14 103954466 103954466 single base substitution T G upstream_gene_variant MELA-AU 14 103954608 103954608 single base substitution C T intron_variant MELA-AU 14 103954608 103954608 single base substitution C T upstream_gene_variant MELA-AU 14 103955025 103955025 single base substitution C T intron_variant MELA-AU 14 103955025 103955025 single base substitution C T upstream_gene_variant MELA-AU 14 103955457 103955457 single base substitution T A intron_variant MELA-AU 14 103955457 103955457 single base substitution T A upstream_gene_variant MELA-AU 14 103955547 103955547 single base substitution C T intron_variant MELA-AU 14 103955547 103955547 single base substitution C T upstream_gene_variant MELA-AU 14 103956101 103956101 single base substitution C T exon_variant MELA-AU 14 103956101 103956101 single base substitution C T intron_variant MELA-AU 14 103956101 103956101 single base substitution C T upstream_gene_variant MELA-AU 14 103956695 103956695 single base substitution C T exon_variant MELA-AU 14 103956695 103956695 single base substitution C T intron_variant MELA-AU 14 103956695 103956695 single base substitution C T upstream_gene_variant MELA-AU 14 103956743 103956743 single base substitution C T exon_variant MELA-AU 14 103956743 103956743 single base substitution C T intron_variant MELA-AU 14 103956743 103956743 single base substitution C T upstream_gene_variant MELA-AU 14 103956787 103956787 single base substitution C T exon_variant MELA-AU 14 103956787 103956787 single base substitution C T intron_variant MELA-AU 14 103956787 103956787 single base substitution C T upstream_gene_variant MELA-AU 14 103957950 103957950 single base substitution T C exon_variant MELA-AU 14 103957950 103957950 single base substitution T C intron_variant MELA-AU 14 103958363 103958363 single base substitution C T exon_variant MELA-AU 14 103958363 103958363 single base substitution C T intron_variant MELA-AU 14 103958363 103958363 single base substitution C T synonymous_variant L199L 597C>T MELA-AU 14 103958363 103958363 single base substitution C T synonymous_variant L363L 1089C>T MELA-AU 14 103958363 103958363 single base substitution C T synonymous_variant L533L 1599C>T MELA-AU 14 103958363 103958363 single base substitution C T synonymous_variant L596L 1788C>T MELA-AU 14 103958363 103958363 single base substitution C T synonymous_variant L612L 1836C>T MELA-AU 14 103958363 103958363 single base substitution C T synonymous_variant L635L 1905C>T MELA-AU 14 103958658 103958658 single base substitution C T downstream_gene_variant MELA-AU 14 103958658 103958658 single base substitution C T intron_variant MELA-AU 14 103959993 103959993 single base substitution C T downstream_gene_variant MELA-AU 14 103959993 103959993 single base substitution C T intron_variant MELA-AU 14 103960161 103960161 single base substitution G A downstream_gene_variant MELA-AU 14 103960161 103960161 single base substitution G A intron_variant MELA-AU 14 103960646 103960646 single base substitution T A downstream_gene_variant MELA-AU 14 103960646 103960646 single base substitution T A intron_variant MELA-AU 14 103960646 103960646 single base substitution T A upstream_gene_variant MELA-AU 14 103961555 103961555 single base substitution C T downstream_gene_variant MELA-AU 14 103961555 103961555 single base substitution C T intron_variant MELA-AU 14 103961555 103961555 single base substitution C T upstream_gene_variant MELA-AU 14 103961614 103961614 single base substitution C T downstream_gene_variant MELA-AU 14 103961614 103961614 single base substitution C T intron_variant MELA-AU 14 103961614 103961614 single base substitution C T upstream_gene_variant MELA-AU 14 103964202 103964202 single base substitution T C intron_variant MELA-AU 14 103964202 103964202 single base substitution T C upstream_gene_variant MELA-AU 14 103964275 103964275 single base substitution C T intron_variant MELA-AU 14 103964275 103964275 single base substitution C T upstream_gene_variant MELA-AU 14 103964646 103964646 single base substitution A G intron_variant MELA-AU 14 103964646 103964646 single base substitution A G upstream_gene_variant MELA-AU 14 103966007 103966007 single base substitution C T exon_variant MELA-AU 14 103966007 103966007 single base substitution C T intron_variant MELA-AU 14 103966543 103966543 single base substitution G A intron_variant MELA-AU 14 103966543 103966543 single base substitution G A splice_region_variant MELA-AU 14 103966991 103966991 single base substitution C T intron_variant MELA-AU 14 103967063 103967063 single base substitution G A intron_variant MELA-AU 14 103967537 103967537 single base substitution C T intron_variant MELA-AU 14 103967611 103967611 single base substitution C T intron_variant MELA-AU 14 103967667 103967667 single base substitution C T intron_variant MELA-AU 14 103968590 103968590 single base substitution C T intron_variant MELA-AU 14 103968917 103968917 single base substitution C T intron_variant MELA-AU 14 103968981 103968981 single base substitution T G intron_variant MELA-AU 14 103969227 103969227 single base substitution T C exon_variant MELA-AU 14 103969227 103969227 single base substitution T C missense_variant V111A 332T>C MELA-AU 14 103969227 103969227 single base substitution T C missense_variant V220A 659T>C MELA-AU 14 103969227 103969227 single base substitution T C missense_variant V393A 1178T>C MELA-AU 14 103969227 103969227 single base substitution T C missense_variant V548A 1643T>C MELA-AU 14 103969227 103969227 single base substitution T C missense_variant V602A 1805T>C MELA-AU 14 103969227 103969227 single base substitution T C missense_variant V618A 1853T>C MELA-AU 14 103969227 103969227 single base substitution T C missense_variant V633A 1898T>C MELA-AU 14 103969227 103969227 single base substitution T C missense_variant V641A 1922T>C MELA-AU 14 103969227 103969227 single base substitution T C missense_variant V642A 1925T>C MELA-AU 14 103969227 103969227 single base substitution T C missense_variant V665A 1994T>C MELA-AU 14 103969273 103969273 single base substitution C T exon_variant MELA-AU 14 103969273 103969273 single base substitution C T synonymous_variant S126S 378C>T MELA-AU 14 103969273 103969273 single base substitution C T synonymous_variant S235S 705C>T MELA-AU 14 103969273 103969273 single base substitution C T synonymous_variant S408S 1224C>T MELA-AU 14 103969273 103969273 single base substitution C T synonymous_variant S563S 1689C>T MELA-AU 14 103969273 103969273 single base substitution C T synonymous_variant S617S 1851C>T MELA-AU 14 103969273 103969273 single base substitution C T synonymous_variant S633S 1899C>T MELA-AU 14 103969273 103969273 single base substitution C T synonymous_variant S648S 1944C>T MELA-AU 14 103969273 103969273 single base substitution C T synonymous_variant S656S 1968C>T MELA-AU 14 103969273 103969273 single base substitution C T synonymous_variant S657S 1971C>T MELA-AU 14 103969273 103969273 single base substitution C T synonymous_variant S680S 2040C>T MELA-AU 14 103969432 103969432 single base substitution C T downstream_gene_variant MELA-AU 14 103969432 103969432 single base substitution C T exon_variant MELA-AU 14 103969432 103969432 single base substitution C T synonymous_variant L179L 537C>T MELA-AU 14 103969432 103969432 single base substitution C T synonymous_variant L288L 864C>T MELA-AU 14 103969432 103969432 single base substitution C T synonymous_variant L461L 1383C>T MELA-AU 14 103969432 103969432 single base substitution C T synonymous_variant L616L 1848C>T MELA-AU 14 103969432 103969432 single base substitution C T synonymous_variant L670L 2010C>T MELA-AU 14 103969432 103969432 single base substitution C T synonymous_variant L686L 2058C>T MELA-AU 14 103969432 103969432 single base substitution C T synonymous_variant L701L 2103C>T MELA-AU 14 103969432 103969432 single base substitution C T synonymous_variant L709L 2127C>T MELA-AU 14 103969432 103969432 single base substitution C T synonymous_variant L710L 2130C>T MELA-AU 14 103969432 103969432 single base substitution C T synonymous_variant L733L 2199C>T MELA-AU 14 103969588 103969588 single base substitution A G 3_prime_UTR_variant MELA-AU 14 103969588 103969588 single base substitution A G downstream_gene_variant MELA-AU 14 103969588 103969588 single base substitution A G exon_variant MELA-AU 14 103969608 103969608 single base substitution C T 3_prime_UTR_variant MELA-AU 14 103969608 103969608 single base substitution C T downstream_gene_variant MELA-AU 14 103969608 103969608 single base substitution C T exon_variant MELA-AU 14 103970989 103970989 single base substitution C T downstream_gene_variant MELA-AU 14 103971215 103971215 single base substitution C T downstream_gene_variant MELA-AU 14 103971532 103971532 single base substitution C T downstream_gene_variant MELA-AU 14 103972021 103972021 single base substitution C T downstream_gene_variant MELA-AU 14 103972154 103972154 single base substitution C T downstream_gene_variant MELA-AU 14 103972184 103972184 single base substitution C T downstream_gene_variant MELA-AU 14 103974023 103974024 multiple base substitution (>=2bp and <=200bp) TG AT downstream_gene_variant MELA-AU 14 103974225 103974225 single base substitution C T downstream_gene_variant MELA-AU 14 103974668 103974668 single base substitution C T downstream_gene_variant MELA-AU 14 103974841 103974841 single base substitution C T downstream_gene_variant ORCA-IN 14 103847838 103847838 single base substitution C T upstream_gene_variant ORCA-IN 14 103855678 103855678 single base substitution G A intron_variant ORCA-IN 14 103872101 103872101 deletion of <=200bp G - intron_variant ORCA-IN 14 103909289 103909289 deletion of <=200bp T - intron_variant ORCA-IN 14 103922206 103922206 single base substitution C A downstream_gene_variant ORCA-IN 14 103922206 103922206 single base substitution C A intron_variant ORCA-IN 14 103933457 103933457 single base substitution G C downstream_gene_variant ORCA-IN 14 103933457 103933457 single base substitution G C exon_variant ORCA-IN 14 103933457 103933457 single base substitution G C intron_variant ORCA-IN 14 103933457 103933457 single base substitution G C missense_variant E114Q 340G>C ORCA-IN 14 103933457 103933457 single base substitution G C missense_variant E268Q 802G>C ORCA-IN 14 103933457 103933457 single base substitution G C missense_variant E347Q 1039G>C ORCA-IN 14 103933457 103933457 single base substitution G C missense_variant E370Q 1108G>C ORCA-IN 14 103933457 103933457 single base substitution G C upstream_gene_variant ORCA-IN 14 103935797 103935797 single base substitution G A downstream_gene_variant ORCA-IN 14 103935797 103935797 single base substitution G A intron_variant ORCA-IN 14 103946570 103946570 single base substitution C G intron_variant ORCA-IN 14 103949878 103949878 single base substitution G A intron_variant ORCA-IN 14 103953317 103953317 single base substitution T C intron_variant ORCA-IN 14 103953317 103953317 single base substitution T C upstream_gene_variant OV-AU 14 103848789 103848789 single base substitution T C upstream_gene_variant OV-AU 14 103855437 103855437 single base substitution C T intron_variant OV-AU 14 103874958 103874958 single base substitution C T intron_variant OV-AU 14 103886149 103886149 single base substitution T A intron_variant OV-AU 14 103890828 103890828 single base substitution A C intron_variant OV-AU 14 103890828 103890828 single base substitution A C upstream_gene_variant OV-AU 14 103890872 103890872 single base substitution A C intron_variant OV-AU 14 103890872 103890872 single base substitution A C upstream_gene_variant OV-AU 14 103892457 103892457 single base substitution C T intron_variant OV-AU 14 103892457 103892457 single base substitution C T upstream_gene_variant OV-AU 14 103922776 103922776 single base substitution G A downstream_gene_variant OV-AU 14 103922776 103922776 single base substitution G A intron_variant OV-AU 14 103928280 103928280 single base substitution G C downstream_gene_variant OV-AU 14 103928280 103928280 single base substitution G C intron_variant OV-AU 14 103928280 103928280 single base substitution G C upstream_gene_variant OV-AU 14 103934144 103934144 single base substitution G C downstream_gene_variant OV-AU 14 103934144 103934144 single base substitution G C exon_variant OV-AU 14 103934144 103934144 single base substitution G C intron_variant OV-AU 14 103940520 103940520 single base substitution C T downstream_gene_variant OV-AU 14 103940520 103940520 single base substitution C T intron_variant OV-AU 14 103940520 103940520 single base substitution C T upstream_gene_variant OV-AU 14 103948868 103948868 single base substitution A T intron_variant OV-AU 14 103949951 103949951 single base substitution G T intron_variant OV-AU 14 103958910 103958910 single base substitution T C downstream_gene_variant OV-AU 14 103958910 103958910 single base substitution T C intron_variant OV-AU 14 103962223 103962223 single base substitution C G downstream_gene_variant OV-AU 14 103962223 103962223 single base substitution C G intron_variant OV-AU 14 103962223 103962223 single base substitution C G upstream_gene_variant OV-AU 14 103967443 103967443 single base substitution C T intron_variant OV-AU 14 103967789 103967789 single base substitution C G intron_variant OV-AU 14 103968728 103968728 single base substitution A G intron_variant PACA-AU 14 103846744 103846744 single base substitution C T upstream_gene_variant PACA-AU 14 103848875 103848877 deletion of <=200bp ATT - upstream_gene_variant PACA-AU 14 103852200 103852210 deletion of <=200bp GGCCCGGGCCA - 5_prime_UTR_variant PACA-AU 14 103852200 103852210 deletion of <=200bp GGCCCGGGCCA - intron_variant PACA-AU 14 103852200 103852210 deletion of <=200bp GGCCCGGGCCA - upstream_gene_variant PACA-AU 14 103856850 103856850 single base substitution C G intron_variant PACA-AU 14 103857263 103857263 single base substitution G A intron_variant PACA-AU 14 103859021 103859021 insertion of <=200bp - A intron_variant PACA-AU 14 103859445 103859445 single base substitution G C intron_variant PACA-AU 14 103862057 103862057 single base substitution G A intron_variant PACA-AU 14 103869071 103869071 single base substitution G T intron_variant PACA-AU 14 103869071 103869071 single base substitution G T upstream_gene_variant PACA-AU 14 103869072 103869072 single base substitution G T intron_variant PACA-AU 14 103869072 103869072 single base substitution G T upstream_gene_variant PACA-AU 14 103879113 103879113 single base substitution C T intron_variant PACA-AU 14 103879113 103879113 single base substitution C T upstream_gene_variant PACA-AU 14 103888824 103888824 deletion of <=200bp A - intron_variant PACA-AU 14 103889720 103889720 single base substitution T C intron_variant PACA-AU 14 103891585 103891585 single base substitution T A intron_variant PACA-AU 14 103891585 103891585 single base substitution T A upstream_gene_variant PACA-AU 14 103891587 103891590 deletion of <=200bp TTAT - intron_variant PACA-AU 14 103891587 103891590 deletion of <=200bp TTAT - upstream_gene_variant PACA-AU 14 103895617 103895617 deletion of <=200bp C - downstream_gene_variant PACA-AU 14 103895617 103895617 deletion of <=200bp C - exon_variant PACA-AU 14 103895617 103895617 deletion of <=200bp C - intron_variant PACA-AU 14 103901510 103901510 single base substitution T C intron_variant PACA-AU 14 103903014 103903014 single base substitution A G intron_variant PACA-AU 14 103918144 103918144 deletion of <=200bp A - intron_variant PACA-AU 14 103920671 103920671 deletion of <=200bp C - downstream_gene_variant PACA-AU 14 103920671 103920671 deletion of <=200bp C - intron_variant PACA-AU 14 103930329 103930329 single base substitution A C intron_variant PACA-AU 14 103930329 103930329 single base substitution A C upstream_gene_variant PACA-AU 14 103930927 103930927 single base substitution G A intron_variant PACA-AU 14 103930927 103930927 single base substitution G A upstream_gene_variant PACA-AU 14 103933350 103933350 single base substitution A G downstream_gene_variant PACA-AU 14 103933350 103933350 single base substitution A G intron_variant PACA-AU 14 103933350 103933350 single base substitution A G upstream_gene_variant PACA-AU 14 103936802 103936802 single base substitution T A downstream_gene_variant PACA-AU 14 103936802 103936802 single base substitution T A intron_variant PACA-AU 14 103936802 103936802 single base substitution T A upstream_gene_variant PACA-AU 14 103943498 103943498 single base substitution G A intron_variant PACA-AU 14 103951468 103951468 single base substitution G T intron_variant PACA-AU 14 103951468 103951468 single base substitution G T upstream_gene_variant PACA-AU 14 103952224 103952224 single base substitution T A intron_variant PACA-AU 14 103952224 103952224 single base substitution T A upstream_gene_variant PACA-AU 14 103953667 103953667 single base substitution T A intron_variant PACA-AU 14 103953667 103953667 single base substitution T A upstream_gene_variant PACA-AU 14 103966196 103966196 single base substitution T G exon_variant PACA-AU 14 103966196 103966196 single base substitution T G intron_variant PACA-AU 14 103966731 103966731 single base substitution T C intron_variant PACA-AU 14 103972724 103972724 deletion of <=200bp T - downstream_gene_variant PACA-CA 14 103848405 103848405 single base substitution C T upstream_gene_variant PACA-CA 14 103849446 103849446 single base substitution A C upstream_gene_variant PACA-CA 14 103850171 103850171 single base substitution C T upstream_gene_variant PACA-CA 14 103856934 103856934 deletion of <=200bp A - intron_variant PACA-CA 14 103859915 103859915 single base substitution T G intron_variant PACA-CA 14 103862935 103862935 single base substitution A G intron_variant PACA-CA 14 103864402 103864402 single base substitution T G intron_variant PACA-CA 14 103873178 103873178 insertion of <=200bp - T intron_variant PACA-CA 14 103875841 103875841 deletion of <=200bp T - intron_variant PACA-CA 14 103877441 103877441 single base substitution C G intron_variant PACA-CA 14 103877605 103877605 single base substitution C A intron_variant PACA-CA 14 103882845 103882845 single base substitution C T intron_variant PACA-CA 14 103882845 103882845 single base substitution C T upstream_gene_variant PACA-CA 14 103889566 103889566 single base substitution T A intron_variant PACA-CA 14 103891635 103891635 single base substitution C T intron_variant PACA-CA 14 103891635 103891635 single base substitution C T upstream_gene_variant PACA-CA 14 103892087 103892087 single base substitution G A intron_variant PACA-CA 14 103892087 103892087 single base substitution G A upstream_gene_variant PACA-CA 14 103892596 103892596 single base substitution T C intron_variant PACA-CA 14 103892596 103892596 single base substitution T C upstream_gene_variant PACA-CA 14 103893402 103893402 single base substitution C T intron_variant PACA-CA 14 103893402 103893402 single base substitution C T upstream_gene_variant PACA-CA 14 103894893 103894893 single base substitution A G downstream_gene_variant PACA-CA 14 103894893 103894893 single base substitution A G intron_variant PACA-CA 14 103894893 103894893 single base substitution A G upstream_gene_variant PACA-CA 14 103895080 103895080 single base substitution T C downstream_gene_variant PACA-CA 14 103895080 103895080 single base substitution T C intron_variant PACA-CA 14 103895080 103895080 single base substitution T C upstream_gene_variant PACA-CA 14 103898701 103898701 single base substitution A G downstream_gene_variant PACA-CA 14 103898701 103898701 single base substitution A G intron_variant PACA-CA 14 103900898 103900898 single base substitution G A intron_variant PACA-CA 14 103900919 103900919 single base substitution G T intron_variant PACA-CA 14 103902475 103902475 single base substitution G A intron_variant PACA-CA 14 103902543 103902543 single base substitution G C intron_variant PACA-CA 14 103906029 103906046 deletion of <=200bp AGCCACCGCACCCCACCA - intron_variant PACA-CA 14 103907873 103907873 single base substitution T C exon_variant PACA-CA 14 103907873 103907873 single base substitution T C intron_variant PACA-CA 14 103912170 103912170 single base substitution T C intron_variant PACA-CA 14 103912181 103912181 single base substitution C A intron_variant PACA-CA 14 103914431 103914431 single base substitution T G intron_variant PACA-CA 14 103917168 103917168 single base substitution G T intron_variant PACA-CA 14 103926887 103926887 single base substitution A G downstream_gene_variant PACA-CA 14 103926887 103926887 single base substitution A G intron_variant PACA-CA 14 103930905 103930905 single base substitution G A intron_variant PACA-CA 14 103930905 103930905 single base substitution G A upstream_gene_variant PACA-CA 14 103932281 103932281 single base substitution G A downstream_gene_variant PACA-CA 14 103932281 103932281 single base substitution G A intron_variant PACA-CA 14 103932281 103932281 single base substitution G A upstream_gene_variant PACA-CA 14 103932418 103932418 single base substitution G A downstream_gene_variant PACA-CA 14 103932418 103932418 single base substitution G A exon_variant PACA-CA 14 103932418 103932418 single base substitution G A intron_variant PACA-CA 14 103932418 103932418 single base substitution G A missense_variant G217D 650G>A PACA-CA 14 103932418 103932418 single base substitution G A missense_variant G296D 887G>A PACA-CA 14 103932418 103932418 single base substitution G A missense_variant G319D 956G>A PACA-CA 14 103932418 103932418 single base substitution G A missense_variant G63D 188G>A PACA-CA 14 103932418 103932418 single base substitution G A upstream_gene_variant PACA-CA 14 103939417 103939417 single base substitution G A downstream_gene_variant PACA-CA 14 103939417 103939417 single base substitution G A intron_variant PACA-CA 14 103939417 103939417 single base substitution G A upstream_gene_variant PACA-CA 14 103940819 103940819 insertion of <=200bp - CTACACCTTCCCCTGTCTACTCAA intron_variant PACA-CA 14 103940819 103940819 insertion of <=200bp - CTACACCTTCCCCTGTCTACTCAA upstream_gene_variant PACA-CA 14 103942782 103942782 single base substitution T C intron_variant PACA-CA 14 103947674 103947674 single base substitution G T intron_variant PACA-CA 14 103949753 103949753 single base substitution C A intron_variant PACA-CA 14 103952841 103952841 single base substitution A T intron_variant PACA-CA 14 103952841 103952841 single base substitution A T upstream_gene_variant PACA-CA 14 103953946 103953946 single base substitution C T intron_variant PACA-CA 14 103953946 103953946 single base substitution C T upstream_gene_variant PACA-CA 14 103955188 103955188 single base substitution T G intron_variant PACA-CA 14 103955188 103955188 single base substitution T G upstream_gene_variant PACA-CA 14 103955250 103955250 single base substitution A G intron_variant PACA-CA 14 103955250 103955250 single base substitution A G upstream_gene_variant PACA-CA 14 103968374 103968374 single base substitution G T intron_variant PACA-CA 14 103968769 103968769 single base substitution G T intron_variant PACA-CA 14 103969409 103969409 single base substitution G A downstream_gene_variant PACA-CA 14 103969409 103969409 single base substitution G A exon_variant PACA-CA 14 103969409 103969409 single base substitution G A missense_variant G172R 514G>A PACA-CA 14 103969409 103969409 single base substitution G A missense_variant G281R 841G>A PACA-CA 14 103969409 103969409 single base substitution G A missense_variant G454R 1360G>A PACA-CA 14 103969409 103969409 single base substitution G A missense_variant G609R 1825G>A PACA-CA 14 103969409 103969409 single base substitution G A missense_variant G663R 1987G>A PACA-CA 14 103969409 103969409 single base substitution G A missense_variant G679R 2035G>A PACA-CA 14 103969409 103969409 single base substitution G A missense_variant G694R 2080G>A PACA-CA 14 103969409 103969409 single base substitution G A missense_variant G702R 2104G>A PACA-CA 14 103969409 103969409 single base substitution G A missense_variant G703R 2107G>A PACA-CA 14 103969409 103969409 single base substitution G A missense_variant G726R 2176G>A PAEN-AU 14 103855844 103855844 single base substitution G A intron_variant PAEN-AU 14 103856141 103856141 single base substitution T G intron_variant PAEN-AU 14 103861210 103861210 single base substitution C T intron_variant PAEN-AU 14 103861215 103861215 single base substitution G T intron_variant PAEN-AU 14 103861265 103861265 single base substitution A G intron_variant PAEN-AU 14 103894639 103894639 single base substitution G T intron_variant PAEN-AU 14 103894639 103894639 single base substitution G T upstream_gene_variant PAEN-AU 14 103932946 103932946 single base substitution A G downstream_gene_variant PAEN-AU 14 103932946 103932946 single base substitution A G intron_variant PAEN-AU 14 103932946 103932946 single base substitution A G upstream_gene_variant PAEN-AU 14 103942068 103942068 single base substitution G T intron_variant PAEN-AU 14 103955749 103955749 single base substitution C T exon_variant PAEN-AU 14 103955749 103955749 single base substitution C T intron_variant PAEN-AU 14 103955749 103955749 single base substitution C T upstream_gene_variant PAEN-IT 14 103851551 103851551 single base substitution C G upstream_gene_variant PAEN-IT 14 103858150 103858150 single base substitution C T intron_variant PAEN-IT 14 103970722 103970722 single base substitution G T downstream_gene_variant PBCA-DE 14 103858410 103858410 single base substitution T A intron_variant PBCA-DE 14 103877576 103877576 insertion of <=200bp - AT intron_variant PBCA-DE 14 103882339 103882339 single base substitution G A intron_variant PBCA-DE 14 103882339 103882339 single base substitution G A upstream_gene_variant PBCA-DE 14 103886333 103886333 single base substitution A C intron_variant PBCA-DE 14 103889482 103889482 single base substitution A T intron_variant PBCA-DE 14 103898311 103898311 deletion of <=200bp T - downstream_gene_variant PBCA-DE 14 103898311 103898311 deletion of <=200bp T - intron_variant PBCA-DE 14 103901450 103901450 single base substitution A G intron_variant PBCA-DE 14 103904601 103904601 single base substitution A G intron_variant PBCA-DE 14 103913048 103913055 deletion of <=200bp TTTTTTTT - intron_variant PBCA-DE 14 103917990 103917990 single base substitution C G intron_variant PBCA-DE 14 103922341 103922341 single base substitution A T downstream_gene_variant PBCA-DE 14 103922341 103922341 single base substitution A T intron_variant PBCA-DE 14 103929202 103929202 single base substitution C A intron_variant PBCA-DE 14 103929202 103929202 single base substitution C A upstream_gene_variant PBCA-DE 14 103935286 103935286 single base substitution G T downstream_gene_variant PBCA-DE 14 103935286 103935286 single base substitution G T intron_variant PBCA-DE 14 103950120 103950120 single base substitution C T intron_variant PBCA-DE 14 103953495 103953495 single base substitution C G intron_variant PBCA-DE 14 103953495 103953495 single base substitution C G upstream_gene_variant PBCA-DE 14 103966222 103966222 single base substitution C T exon_variant PBCA-DE 14 103966222 103966222 single base substitution C T intron_variant PRAD-CA 14 103867690 103867690 single base substitution T G intron_variant PRAD-CA 14 103867690 103867690 single base substitution T G upstream_gene_variant PRAD-CA 14 103879917 103879917 single base substitution A G intron_variant PRAD-CA 14 103879917 103879917 single base substitution A G upstream_gene_variant PRAD-CA 14 103909850 103909850 single base substitution G T intron_variant PRAD-CA 14 103937987 103937987 single base substitution C T downstream_gene_variant PRAD-CA 14 103937987 103937987 single base substitution C T intron_variant PRAD-CA 14 103937987 103937987 single base substitution C T upstream_gene_variant PRAD-CA 14 103959478 103959478 single base substitution C G downstream_gene_variant PRAD-CA 14 103959478 103959478 single base substitution C G intron_variant PRAD-CA 14 103972983 103972983 single base substitution C T downstream_gene_variant PRAD-UK 14 103863400 103863400 deletion of <=200bp C - intron_variant PRAD-UK 14 103896880 103896880 single base substitution A G downstream_gene_variant PRAD-UK 14 103896880 103896880 single base substitution A G intron_variant PRAD-UK 14 103909305 103909305 single base substitution G A intron_variant PRAD-UK 14 103918761 103918761 single base substitution T G downstream_gene_variant PRAD-UK 14 103918761 103918761 single base substitution T G intron_variant PRAD-UK 14 103953339 103953339 single base substitution C T intron_variant PRAD-UK 14 103953339 103953339 single base substitution C T upstream_gene_variant PRAD-UK 14 103957158 103957158 single base substitution G A exon_variant PRAD-UK 14 103957158 103957158 single base substitution G A intron_variant PRAD-UK 14 103957158 103957158 single base substitution G A upstream_gene_variant PRAD-UK 14 103967480 103967480 single base substitution C A intron_variant PRAD-US 14 103918266 103918266 single base substitution G A exon_variant PRAD-US 14 103918266 103918266 single base substitution G A missense_variant E102K 304G>A PRAD-US 14 103918266 103918266 single base substitution G A missense_variant E108K 322G>A PRAD-US 14 103918266 103918266 single base substitution G A missense_variant E120K 358G>A RECA-EU 14 103847335 103847335 single base substitution C T upstream_gene_variant RECA-EU 14 103852452 103852452 single base substitution C A intron_variant RECA-EU 14 103852452 103852452 single base substitution C A upstream_gene_variant RECA-EU 14 103857429 103857429 single base substitution T C intron_variant RECA-EU 14 103867546 103867546 single base substitution G T intron_variant RECA-EU 14 103867546 103867546 single base substitution G T upstream_gene_variant RECA-EU 14 103876722 103876722 single base substitution A G intron_variant RECA-EU 14 103893444 103893444 single base substitution G T intron_variant RECA-EU 14 103893444 103893444 single base substitution G T upstream_gene_variant RECA-EU 14 103918067 103918067 single base substitution T C intron_variant RECA-EU 14 103920220 103920220 single base substitution T G downstream_gene_variant RECA-EU 14 103920220 103920220 single base substitution T G intron_variant RECA-EU 14 103929123 103929123 single base substitution G A intron_variant RECA-EU 14 103929123 103929123 single base substitution G A upstream_gene_variant RECA-EU 14 103934654 103934654 single base substitution T C downstream_gene_variant RECA-EU 14 103934654 103934654 single base substitution T C intron_variant RECA-EU 14 103946910 103946910 single base substitution A T intron_variant RECA-EU 14 103953357 103953357 single base substitution G A intron_variant RECA-EU 14 103953357 103953357 single base substitution G A upstream_gene_variant RECA-EU 14 103962347 103962347 single base substitution G A downstream_gene_variant RECA-EU 14 103962347 103962347 single base substitution G A intron_variant RECA-EU 14 103962347 103962347 single base substitution G A upstream_gene_variant SKCA-BR 14 103846750 103846750 single base substitution C T upstream_gene_variant SKCA-BR 14 103846954 103846957 deletion of <=200bp CAAA - upstream_gene_variant SKCA-BR 14 103846994 103846994 single base substitution T G upstream_gene_variant SKCA-BR 14 103848290 103848290 single base substitution G T upstream_gene_variant SKCA-BR 14 103848562 103848562 single base substitution T A upstream_gene_variant SKCA-BR 14 103851709 103851709 single base substitution C T upstream_gene_variant SKCA-BR 14 103852607 103852607 single base substitution G T 5_prime_UTR_premature_start_codon_gain_variant SKCA-BR 14 103852607 103852607 single base substitution G T intron_variant SKCA-BR 14 103855236 103855237 deletion of <=200bp AT - intron_variant SKCA-BR 14 103855865 103855866 deletion of <=200bp CA - intron_variant SKCA-BR 14 103857751 103857752 deletion of <=200bp CT - intron_variant SKCA-BR 14 103858673 103858673 single base substitution G A intron_variant SKCA-BR 14 103859163 103859163 single base substitution C T intron_variant SKCA-BR 14 103860269 103860269 single base substitution C T intron_variant SKCA-BR 14 103860649 103860649 single base substitution G C intron_variant SKCA-BR 14 103868293 103868293 single base substitution G A intron_variant SKCA-BR 14 103868293 103868293 single base substitution G A upstream_gene_variant SKCA-BR 14 103874068 103874068 single base substitution T C intron_variant SKCA-BR 14 103879766 103879766 insertion of <=200bp - CTT intron_variant SKCA-BR 14 103879766 103879766 insertion of <=200bp - CTT upstream_gene_variant SKCA-BR 14 103879950 103879950 insertion of <=200bp - ATTTAT intron_variant SKCA-BR 14 103879950 103879950 insertion of <=200bp - ATTTAT upstream_gene_variant SKCA-BR 14 103880838 103880839 deletion of <=200bp AG - intron_variant SKCA-BR 14 103880838 103880839 deletion of <=200bp AG - upstream_gene_variant SKCA-BR 14 103882284 103882284 single base substitution C T intron_variant SKCA-BR 14 103882284 103882284 single base substitution C T upstream_gene_variant SKCA-BR 14 103884556 103884558 deletion of <=200bp CTT - intron_variant SKCA-BR 14 103884903 103884903 single base substitution A C intron_variant SKCA-BR 14 103890388 103890388 single base substitution T A intron_variant SKCA-BR 14 103890396 103890396 single base substitution T A intron_variant SKCA-BR 14 103894312 103894312 single base substitution A G intron_variant SKCA-BR 14 103894312 103894312 single base substitution A G upstream_gene_variant SKCA-BR 14 103895114 103895114 single base substitution C T downstream_gene_variant SKCA-BR 14 103895114 103895114 single base substitution C T intron_variant SKCA-BR 14 103895114 103895114 single base substitution C T upstream_gene_variant SKCA-BR 14 103896241 103896241 single base substitution A T downstream_gene_variant SKCA-BR 14 103896241 103896241 single base substitution A T intron_variant SKCA-BR 14 103899420 103899420 single base substitution C T downstream_gene_variant SKCA-BR 14 103899420 103899420 single base substitution C T intron_variant SKCA-BR 14 103901427 103901427 single base substitution A T intron_variant SKCA-BR 14 103902547 103902547 single base substitution A C intron_variant SKCA-BR 14 103906165 103906165 single base substitution C T intron_variant SKCA-BR 14 103906669 103906669 single base substitution T G intron_variant SKCA-BR 14 103908731 103908731 single base substitution C T intron_variant SKCA-BR 14 103909568 103909568 single base substitution G A intron_variant SKCA-BR 14 103909933 103909933 single base substitution C T intron_variant SKCA-BR 14 103910500 103910500 single base substitution A T intron_variant SKCA-BR 14 103913283 103913283 single base substitution T G intron_variant SKCA-BR 14 103916958 103916958 single base substitution A G intron_variant SKCA-BR 14 103918346 103918346 insertion of <=200bp - GT downstream_gene_variant SKCA-BR 14 103918346 103918346 insertion of <=200bp - GT intron_variant SKCA-BR 14 103919322 103919322 single base substitution T C downstream_gene_variant SKCA-BR 14 103919322 103919322 single base substitution T C intron_variant SKCA-BR 14 103920624 103920624 single base substitution C T downstream_gene_variant SKCA-BR 14 103920624 103920624 single base substitution C T intron_variant SKCA-BR 14 103921977 103921977 single base substitution A G downstream_gene_variant SKCA-BR 14 103921977 103921977 single base substitution A G intron_variant SKCA-BR 14 103922390 103922390 single base substitution A G downstream_gene_variant SKCA-BR 14 103922390 103922390 single base substitution A G intron_variant SKCA-BR 14 103923181 103923181 single base substitution T A downstream_gene_variant SKCA-BR 14 103923181 103923181 single base substitution T A intron_variant SKCA-BR 14 103929800 103929800 single base substitution C T intron_variant SKCA-BR 14 103929800 103929800 single base substitution C T upstream_gene_variant SKCA-BR 14 103929801 103929801 single base substitution C T intron_variant SKCA-BR 14 103929801 103929801 single base substitution C T upstream_gene_variant SKCA-BR 14 103930564 103930564 single base substitution T C intron_variant SKCA-BR 14 103930564 103930564 single base substitution T C upstream_gene_variant SKCA-BR 14 103930652 103930652 single base substitution T C intron_variant SKCA-BR 14 103930652 103930652 single base substitution T C upstream_gene_variant SKCA-BR 14 103931028 103931028 single base substitution T C intron_variant SKCA-BR 14 103931028 103931028 single base substitution T C upstream_gene_variant SKCA-BR 14 103933999 103933999 single base substitution G A downstream_gene_variant SKCA-BR 14 103933999 103933999 single base substitution G A exon_variant SKCA-BR 14 103933999 103933999 single base substitution G A intron_variant SKCA-BR 14 103933999 103933999 single base substitution G A upstream_gene_variant SKCA-BR 14 103934400 103934400 single base substitution A T downstream_gene_variant SKCA-BR 14 103934400 103934400 single base substitution A T exon_variant SKCA-BR 14 103934400 103934400 single base substitution A T intron_variant SKCA-BR 14 103934400 103934400 single base substitution A T missense_variant N302Y 904A>T SKCA-BR 14 103934400 103934400 single base substitution A T missense_variant N381Y 1141A>T SKCA-BR 14 103934400 103934400 single base substitution A T missense_variant N404Y 1210A>T SKCA-BR 14 103934645 103934645 insertion of <=200bp - TTTC downstream_gene_variant SKCA-BR 14 103934645 103934645 insertion of <=200bp - TTTC intron_variant SKCA-BR 14 103934652 103934652 insertion of <=200bp - TTC downstream_gene_variant SKCA-BR 14 103934652 103934652 insertion of <=200bp - TTC intron_variant SKCA-BR 14 103934654 103934654 single base substitution T C downstream_gene_variant SKCA-BR 14 103934654 103934654 single base substitution T C intron_variant SKCA-BR 14 103935126 103935126 insertion of <=200bp - CT downstream_gene_variant SKCA-BR 14 103935126 103935126 insertion of <=200bp - CT intron_variant SKCA-BR 14 103935610 103935610 single base substitution C T downstream_gene_variant SKCA-BR 14 103935610 103935610 single base substitution C T exon_variant SKCA-BR 14 103935610 103935610 single base substitution C T intron_variant SKCA-BR 14 103938059 103938059 single base substitution A G downstream_gene_variant SKCA-BR 14 103938059 103938059 single base substitution A G intron_variant SKCA-BR 14 103938059 103938059 single base substitution A G upstream_gene_variant SKCA-BR 14 103938665 103938665 single base substitution C T downstream_gene_variant SKCA-BR 14 103938665 103938665 single base substitution C T intron_variant SKCA-BR 14 103938665 103938665 single base substitution C T upstream_gene_variant SKCA-BR 14 103939344 103939344 insertion of <=200bp - GA downstream_gene_variant SKCA-BR 14 103939344 103939344 insertion of <=200bp - GA intron_variant SKCA-BR 14 103939344 103939344 insertion of <=200bp - GA upstream_gene_variant SKCA-BR 14 103940764 103940764 single base substitution A G intron_variant SKCA-BR 14 103940764 103940764 single base substitution A G upstream_gene_variant SKCA-BR 14 103940911 103940911 single base substitution G A intron_variant SKCA-BR 14 103940911 103940911 single base substitution G A upstream_gene_variant SKCA-BR 14 103943338 103943338 single base substitution T G intron_variant SKCA-BR 14 103944631 103944632 deletion of <=200bp CA - intron_variant SKCA-BR 14 103945414 103945414 single base substitution A G intron_variant SKCA-BR 14 103945844 103945844 single base substitution A G intron_variant SKCA-BR 14 103946941 103946941 single base substitution C A intron_variant SKCA-BR 14 103948708 103948709 deletion of <=200bp AT - intron_variant SKCA-BR 14 103951761 103951761 single base substitution C T intron_variant SKCA-BR 14 103951761 103951761 single base substitution C T upstream_gene_variant SKCA-BR 14 103953126 103953126 single base substitution A G intron_variant SKCA-BR 14 103953126 103953126 single base substitution A G upstream_gene_variant SKCA-BR 14 103957841 103957841 single base substitution T G exon_variant SKCA-BR 14 103957841 103957841 single base substitution T G intron_variant SKCA-BR 14 103957841 103957841 single base substitution T G upstream_gene_variant SKCA-BR 14 103960211 103960211 insertion of <=200bp - CA downstream_gene_variant SKCA-BR 14 103960211 103960211 insertion of <=200bp - CA intron_variant SKCA-BR 14 103960211 103960211 insertion of <=200bp - CA upstream_gene_variant SKCA-BR 14 103960259 103960259 insertion of <=200bp - CT downstream_gene_variant SKCA-BR 14 103960259 103960259 insertion of <=200bp - CT intron_variant SKCA-BR 14 103960259 103960259 insertion of <=200bp - CT upstream_gene_variant SKCA-BR 14 103963338 103963338 single base substitution C A downstream_gene_variant SKCA-BR 14 103963338 103963338 single base substitution C A intron_variant SKCA-BR 14 103963338 103963338 single base substitution C A upstream_gene_variant SKCA-BR 14 103965620 103965620 single base substitution A C exon_variant SKCA-BR 14 103965620 103965620 single base substitution A C intron_variant SKCA-BR 14 103967929 103967929 single base substitution C G intron_variant SKCA-BR 14 103968467 103968467 single base substitution G C intron_variant SKCA-BR 14 103970327 103970327 single base substitution C T downstream_gene_variant SKCM-US 14 103871440 103871440 single base substitution G A exon_variant SKCM-US 14 103871440 103871440 single base substitution G A missense_variant E15K 43G>A SKCM-US 14 103871440 103871440 single base substitution G A missense_variant E27K 79G>A SKCM-US 14 103871440 103871440 single base substitution G A upstream_gene_variant SKCM-US 14 103918266 103918266 single base substitution G A exon_variant SKCM-US 14 103918266 103918266 single base substitution G A missense_variant E102K 304G>A SKCM-US 14 103918266 103918266 single base substitution G A missense_variant E108K 322G>A SKCM-US 14 103918266 103918266 single base substitution G A missense_variant E120K 358G>A SKCM-US 14 103932026 103932026 single base substitution C T downstream_gene_variant SKCM-US 14 103932026 103932026 single base substitution C T exon_variant SKCM-US 14 103932026 103932026 single base substitution C T intron_variant SKCM-US 14 103932026 103932026 single base substitution C T stop_gained Q225* 673C>T SKCM-US 14 103932026 103932026 single base substitution C T stop_gained Q248* 742C>T SKCM-US 14 103932026 103932026 single base substitution C T upstream_gene_variant SKCM-US 14 103932348 103932348 single base substitution C T downstream_gene_variant SKCM-US 14 103932348 103932348 single base substitution C T intron_variant SKCM-US 14 103932348 103932348 single base substitution C T missense_variant P194S 580C>T SKCM-US 14 103932348 103932348 single base substitution C T missense_variant P273S 817C>T SKCM-US 14 103932348 103932348 single base substitution C T missense_variant P296S 886C>T SKCM-US 14 103932348 103932348 single base substitution C T missense_variant P40S 118C>T SKCM-US 14 103932348 103932348 single base substitution C T upstream_gene_variant SKCM-US 14 103932349 103932349 single base substitution C T downstream_gene_variant SKCM-US 14 103932349 103932349 single base substitution C T intron_variant SKCM-US 14 103932349 103932349 single base substitution C T missense_variant P194L 581C>T SKCM-US 14 103932349 103932349 single base substitution C T missense_variant P273L 818C>T SKCM-US 14 103932349 103932349 single base substitution C T missense_variant P296L 887C>T SKCM-US 14 103932349 103932349 single base substitution C T missense_variant P40L 119C>T SKCM-US 14 103932349 103932349 single base substitution C T upstream_gene_variant SKCM-US 14 103941514 103941514 single base substitution T C exon_variant SKCM-US 14 103941514 103941514 single base substitution T C intron_variant SKCM-US 14 103941514 103941514 single base substitution T C synonymous_variant I18I 54T>C SKCM-US 14 103941514 103941514 single base substitution T C synonymous_variant I234I 702T>C SKCM-US 14 103941514 103941514 single base substitution T C synonymous_variant I404I 1212T>C SKCM-US 14 103941514 103941514 single base substitution T C synonymous_variant I467I 1401T>C SKCM-US 14 103941514 103941514 single base substitution T C synonymous_variant I483I 1449T>C SKCM-US 14 103941514 103941514 single base substitution T C synonymous_variant I506I 1518T>C SKCM-US 14 103941514 103941514 single base substitution T C synonymous_variant I62I 186T>C SKCM-US 14 103946755 103946755 single base substitution G C exon_variant SKCM-US 14 103946755 103946755 single base substitution G C intron_variant SKCM-US 14 103946755 103946755 single base substitution G C missense_variant R256P 767G>C SKCM-US 14 103946755 103946755 single base substitution G C missense_variant R40P 119G>C SKCM-US 14 103946755 103946755 single base substitution G C missense_variant R426P 1277G>C SKCM-US 14 103946755 103946755 single base substitution G C missense_variant R489P 1466G>C SKCM-US 14 103946755 103946755 single base substitution G C missense_variant R505P 1514G>C SKCM-US 14 103946755 103946755 single base substitution G C missense_variant R528P 1583G>C SKCM-US 14 103946755 103946755 single base substitution G C missense_variant R84P 251G>C SKCM-US 14 103946816 103946816 single base substitution C T exon_variant SKCM-US 14 103946816 103946816 single base substitution C T intron_variant SKCM-US 14 103946816 103946816 single base substitution C T synonymous_variant G104G 312C>T SKCM-US 14 103946816 103946816 single base substitution C T synonymous_variant G276G 828C>T SKCM-US 14 103946816 103946816 single base substitution C T synonymous_variant G446G 1338C>T SKCM-US 14 103946816 103946816 single base substitution C T synonymous_variant G509G 1527C>T SKCM-US 14 103946816 103946816 single base substitution C T synonymous_variant G525G 1575C>T SKCM-US 14 103946816 103946816 single base substitution C T synonymous_variant G548G 1644C>T SKCM-US 14 103946816 103946816 single base substitution C T synonymous_variant G60G 180C>T SKCM-US 14 103958222 103958222 single base substitution C T exon_variant SKCM-US 14 103958222 103958222 single base substitution C T intron_variant SKCM-US 14 103958222 103958222 single base substitution C T synonymous_variant F152F 456C>T SKCM-US 14 103958222 103958222 single base substitution C T synonymous_variant F316F 948C>T SKCM-US 14 103958222 103958222 single base substitution C T synonymous_variant F486F 1458C>T SKCM-US 14 103958222 103958222 single base substitution C T synonymous_variant F549F 1647C>T SKCM-US 14 103958222 103958222 single base substitution C T synonymous_variant F565F 1695C>T SKCM-US 14 103958222 103958222 single base substitution C T synonymous_variant F588F 1764C>T SKCM-US 14 103969227 103969227 single base substitution T C exon_variant SKCM-US 14 103969227 103969227 single base substitution T C missense_variant V111A 332T>C SKCM-US 14 103969227 103969227 single base substitution T C missense_variant V220A 659T>C SKCM-US 14 103969227 103969227 single base substitution T C missense_variant V393A 1178T>C SKCM-US 14 103969227 103969227 single base substitution T C missense_variant V548A 1643T>C SKCM-US 14 103969227 103969227 single base substitution T C missense_variant V602A 1805T>C SKCM-US 14 103969227 103969227 single base substitution T C missense_variant V618A 1853T>C SKCM-US 14 103969227 103969227 single base substitution T C missense_variant V633A 1898T>C SKCM-US 14 103969227 103969227 single base substitution T C missense_variant V641A 1922T>C SKCM-US 14 103969227 103969227 single base substitution T C missense_variant V642A 1925T>C SKCM-US 14 103969227 103969227 single base substitution T C missense_variant V665A 1994T>C SKCM-US 14 103969316 103969316 single base substitution C T exon_variant SKCM-US 14 103969316 103969316 single base substitution C T missense_variant P141S 421C>T SKCM-US 14 103969316 103969316 single base substitution C T missense_variant P250S 748C>T SKCM-US 14 103969316 103969316 single base substitution C T missense_variant P423S 1267C>T SKCM-US 14 103969316 103969316 single base substitution C T missense_variant P578S 1732C>T SKCM-US 14 103969316 103969316 single base substitution C T missense_variant P632S 1894C>T SKCM-US 14 103969316 103969316 single base substitution C T missense_variant P648S 1942C>T SKCM-US 14 103969316 103969316 single base substitution C T missense_variant P663S 1987C>T SKCM-US 14 103969316 103969316 single base substitution C T missense_variant P671S 2011C>T SKCM-US 14 103969316 103969316 single base substitution C T missense_variant P672S 2014C>T SKCM-US 14 103969316 103969316 single base substitution C T missense_variant P695S 2083C>T STAD-US 14 103871548 103871548 single base substitution G A exon_variant STAD-US 14 103871548 103871548 single base substitution G A missense_variant G51S 151G>A STAD-US 14 103871548 103871548 single base substitution G A missense_variant G63S 187G>A STAD-US 14 103871565 103871565 single base substitution A G exon_variant STAD-US 14 103871565 103871565 single base substitution A G synonymous_variant A56A 168A>G STAD-US 14 103871565 103871565 single base substitution A G synonymous_variant A68A 204A>G STAD-US 14 103928798 103928798 single base substitution G A intron_variant STAD-US 14 103928798 103928798 single base substitution G A splice_region_variant STAD-US 14 103928798 103928798 single base substitution G A upstream_gene_variant STAD-US 14 103934416 103934416 single base substitution A G downstream_gene_variant STAD-US 14 103934416 103934416 single base substitution A G exon_variant STAD-US 14 103934416 103934416 single base substitution A G intron_variant STAD-US 14 103934416 103934416 single base substitution A G missense_variant K307R 920A>G STAD-US 14 103934416 103934416 single base substitution A G missense_variant K386R 1157A>G STAD-US 14 103934416 103934416 single base substitution A G missense_variant K409R 1226A>G STAD-US 14 103934416 103934416 single base substitution A G splice_acceptor_variant STAD-US 14 103934456 103934456 single base substitution G A downstream_gene_variant STAD-US 14 103934456 103934456 single base substitution G A exon_variant STAD-US 14 103934456 103934456 single base substitution G A intron_variant STAD-US 14 103934456 103934456 single base substitution G A synonymous_variant Q150Q 450G>A STAD-US 14 103934456 103934456 single base substitution G A synonymous_variant Q320Q 960G>A STAD-US 14 103934456 103934456 single base substitution G A synonymous_variant Q383Q 1149G>A STAD-US 14 103934456 103934456 single base substitution G A synonymous_variant Q399Q 1197G>A STAD-US 14 103934456 103934456 single base substitution G A synonymous_variant Q422Q 1266G>A STAD-US 14 103941357 103941357 single base substitution C T exon_variant STAD-US 14 103941357 103941357 single base substitution C T intron_variant STAD-US 14 103941357 103941357 single base substitution C T missense_variant A10V 29C>T STAD-US 14 103941357 103941357 single base substitution C T missense_variant A182V 545C>T STAD-US 14 103941357 103941357 single base substitution C T missense_variant A352V 1055C>T STAD-US 14 103941357 103941357 single base substitution C T missense_variant A415V 1244C>T STAD-US 14 103941357 103941357 single base substitution C T missense_variant A431V 1292C>T STAD-US 14 103941357 103941357 single base substitution C T missense_variant A454V 1361C>T STAD-US 14 103941357 103941357 single base substitution C T upstream_gene_variant STAD-US 14 103941507 103941507 single base substitution C T exon_variant STAD-US 14 103941507 103941507 single base substitution C T intron_variant STAD-US 14 103941507 103941507 single base substitution C T missense_variant A16V 47C>T STAD-US 14 103941507 103941507 single base substitution C T missense_variant A232V 695C>T STAD-US 14 103941507 103941507 single base substitution C T missense_variant A402V 1205C>T STAD-US 14 103941507 103941507 single base substitution C T missense_variant A465V 1394C>T STAD-US 14 103941507 103941507 single base substitution C T missense_variant A481V 1442C>T STAD-US 14 103941507 103941507 single base substitution C T missense_variant A504V 1511C>T STAD-US 14 103941507 103941507 single base substitution C T missense_variant A60V 179C>T STAD-US 14 103941521 103941521 single base substitution C T exon_variant STAD-US 14 103941521 103941521 single base substitution C T intron_variant STAD-US 14 103941521 103941521 single base substitution C T missense_variant R21C 61C>T STAD-US 14 103941521 103941521 single base substitution C T missense_variant R237C 709C>T STAD-US 14 103941521 103941521 single base substitution C T missense_variant R407C 1219C>T STAD-US 14 103941521 103941521 single base substitution C T missense_variant R470C 1408C>T STAD-US 14 103941521 103941521 single base substitution C T missense_variant R486C 1456C>T STAD-US 14 103941521 103941521 single base substitution C T missense_variant R509C 1525C>T STAD-US 14 103941521 103941521 single base substitution C T missense_variant R65C 193C>T STAD-US 14 103946722 103946722 single base substitution A T intron_variant STAD-US 14 103946722 103946722 single base substitution A T splice_acceptor_variant STAD-US 14 103958244 103958244 single base substitution C T exon_variant STAD-US 14 103958244 103958244 single base substitution C T intron_variant STAD-US 14 103958244 103958244 single base substitution C T stop_gained R160* 478C>T STAD-US 14 103958244 103958244 single base substitution C T stop_gained R324* 970C>T STAD-US 14 103958244 103958244 single base substitution C T stop_gained R494* 1480C>T STAD-US 14 103958244 103958244 single base substitution C T stop_gained R557* 1669C>T STAD-US 14 103958244 103958244 single base substitution C T stop_gained R573* 1717C>T STAD-US 14 103958244 103958244 single base substitution C T stop_gained R596* 1786C>T THCA-SA 14 103852164 103852164 single base substitution C G 5_prime_UTR_variant THCA-SA 14 103852164 103852164 single base substitution C G intron_variant THCA-SA 14 103852164 103852164 single base substitution C G upstream_gene_variant THCA-SA 14 103941454 103941454 single base substitution G A exon_variant THCA-SA 14 103941454 103941454 single base substitution G A intron_variant THCA-SA 14 103941454 103941454 single base substitution G A synonymous_variant K214K 642G>A THCA-SA 14 103941454 103941454 single base substitution G A synonymous_variant K384K 1152G>A THCA-SA 14 103941454 103941454 single base substitution G A synonymous_variant K42K 126G>A THCA-SA 14 103941454 103941454 single base substitution G A synonymous_variant K447K 1341G>A THCA-SA 14 103941454 103941454 single base substitution G A synonymous_variant K463K 1389G>A THCA-SA 14 103941454 103941454 single base substitution G A synonymous_variant K486K 1458G>A THCA-SA 14 103941454 103941454 single base substitution G A upstream_gene_variant THCA-SA 14 103969909 103969909 single base substitution A G 3_prime_UTR_variant THCA-SA 14 103969909 103969909 single base substitution A G downstream_gene_variant THCA-SA 14 103969909 103969909 single base substitution A G exon_variant UCEC-US 14 103871418 103871418 single base substitution G C exon_variant UCEC-US 14 103871418 103871418 single base substitution G C synonymous_variant T19T 57G>C UCEC-US 14 103871418 103871418 single base substitution G C synonymous_variant T7T 21G>C UCEC-US 14 103871418 103871418 single base substitution G C upstream_gene_variant UCEC-US 14 103918265 103918265 single base substitution C T exon_variant UCEC-US 14 103918265 103918265 single base substitution C T synonymous_variant F101F 303C>T UCEC-US 14 103918265 103918265 single base substitution C T synonymous_variant F107F 321C>T UCEC-US 14 103918265 103918265 single base substitution C T synonymous_variant F119F 357C>T UCEC-US 14 103918266 103918266 single base substitution G A exon_variant UCEC-US 14 103918266 103918266 single base substitution G A missense_variant E102K 304G>A UCEC-US 14 103918266 103918266 single base substitution G A missense_variant E108K 322G>A UCEC-US 14 103918266 103918266 single base substitution G A missense_variant E120K 358G>A UCEC-US 14 103925068 103925068 single base substitution G A downstream_gene_variant UCEC-US 14 103925068 103925068 single base substitution G A exon_variant UCEC-US 14 103925068 103925068 single base substitution G A intron_variant UCEC-US 14 103925068 103925068 single base substitution G A missense_variant C163Y 488G>A UCEC-US 14 103932313 103932313 insertion of <=200bp - GA downstream_gene_variant UCEC-US 14 103932313 103932313 insertion of <=200bp - GA frameshift_variant L182R? UCEC-US 14 103932313 103932313 insertion of <=200bp - GA frameshift_variant L261R? UCEC-US 14 103932313 103932313 insertion of <=200bp - GA frameshift_variant L284R? UCEC-US 14 103932313 103932313 insertion of <=200bp - GA frameshift_variant L28R? UCEC-US 14 103932313 103932313 insertion of <=200bp - GA intron_variant UCEC-US 14 103932313 103932313 insertion of <=200bp - GA upstream_gene_variant UCEC-US 14 103932314 103932315 deletion of <=200bp GA - downstream_gene_variant UCEC-US 14 103932314 103932315 deletion of <=200bp GA - frameshift_variant LR182 UCEC-US 14 103932314 103932315 deletion of <=200bp GA - frameshift_variant LR261 UCEC-US 14 103932314 103932315 deletion of <=200bp GA - frameshift_variant LR28 UCEC-US 14 103932314 103932315 deletion of <=200bp GA - frameshift_variant LR284 UCEC-US 14 103932314 103932315 deletion of <=200bp GA - intron_variant UCEC-US 14 103932314 103932315 deletion of <=200bp GA - upstream_gene_variant UCEC-US 14 103933460 103933460 single base substitution T G downstream_gene_variant UCEC-US 14 103933460 103933460 single base substitution T G exon_variant UCEC-US 14 103933460 103933460 single base substitution T G intron_variant UCEC-US 14 103933460 103933460 single base substitution T G missense_variant S115A 343T>G UCEC-US 14 103933460 103933460 single base substitution T G missense_variant S269A 805T>G UCEC-US 14 103933460 103933460 single base substitution T G missense_variant S348A 1042T>G UCEC-US 14 103933460 103933460 single base substitution T G missense_variant S371A 1111T>G UCEC-US 14 103933460 103933460 single base substitution T G upstream_gene_variant UCEC-US 14 103941404 103941404 single base substitution G T exon_variant UCEC-US 14 103941404 103941404 single base substitution G T intron_variant UCEC-US 14 103941404 103941404 single base substitution G T stop_gained E198* 592G>T UCEC-US 14 103941404 103941404 single base substitution G T stop_gained E26* 76G>T UCEC-US 14 103941404 103941404 single base substitution G T stop_gained E368* 1102G>T UCEC-US 14 103941404 103941404 single base substitution G T stop_gained E431* 1291G>T UCEC-US 14 103941404 103941404 single base substitution G T stop_gained E447* 1339G>T UCEC-US 14 103941404 103941404 single base substitution G T stop_gained E470* 1408G>T UCEC-US 14 103941404 103941404 single base substitution G T upstream_gene_variant UCEC-US 14 103941462 103941462 single base substitution C A exon_variant UCEC-US 14 103941462 103941462 single base substitution C A intron_variant UCEC-US 14 103941462 103941462 single base substitution C A missense_variant A1D 2C>A UCEC-US 14 103941462 103941462 single base substitution C A missense_variant A217D 650C>A UCEC-US 14 103941462 103941462 single base substitution C A missense_variant A387D 1160C>A UCEC-US 14 103941462 103941462 single base substitution C A missense_variant A450D 1349C>A UCEC-US 14 103941462 103941462 single base substitution C A missense_variant A45D 134C>A UCEC-US 14 103941462 103941462 single base substitution C A missense_variant A466D 1397C>A UCEC-US 14 103941462 103941462 single base substitution C A missense_variant A489D 1466C>A UCEC-US 14 103941507 103941507 single base substitution C T exon_variant UCEC-US 14 103941507 103941507 single base substitution C T intron_variant UCEC-US 14 103941507 103941507 single base substitution C T missense_variant A16V 47C>T UCEC-US 14 103941507 103941507 single base substitution C T missense_variant A232V 695C>T UCEC-US 14 103941507 103941507 single base substitution C T missense_variant A402V 1205C>T UCEC-US 14 103941507 103941507 single base substitution C T missense_variant A465V 1394C>T UCEC-US 14 103941507 103941507 single base substitution C T missense_variant A481V 1442C>T UCEC-US 14 103941507 103941507 single base substitution C T missense_variant A504V 1511C>T UCEC-US 14 103941507 103941507 single base substitution C T missense_variant A60V 179C>T UCEC-US 14 103946820 103946820 single base substitution G T exon_variant UCEC-US 14 103946820 103946820 single base substitution G T intron_variant UCEC-US 14 103946820 103946820 single base substitution G T stop_gained E106* 316G>T UCEC-US 14 103946820 103946820 single base substitution G T stop_gained E278* 832G>T UCEC-US 14 103946820 103946820 single base substitution G T stop_gained E448* 1342G>T UCEC-US 14 103946820 103946820 single base substitution G T stop_gained E511* 1531G>T UCEC-US 14 103946820 103946820 single base substitution G T stop_gained E527* 1579G>T UCEC-US 14 103946820 103946820 single base substitution G T stop_gained E550* 1648G>T UCEC-US 14 103946820 103946820 single base substitution G T stop_gained E62* 184G>T UCEC-US 14 103958316 103958316 single base substitution C T exon_variant UCEC-US 14 103958316 103958316 single base substitution C T intron_variant UCEC-US 14 103958316 103958316 single base substitution C T stop_gained R184* 550C>T UCEC-US 14 103958316 103958316 single base substitution C T stop_gained R348* 1042C>T UCEC-US 14 103958316 103958316 single base substitution C T stop_gained R518* 1552C>T UCEC-US 14 103958316 103958316 single base substitution C T stop_gained R581* 1741C>T UCEC-US 14 103958316 103958316 single base substitution C T stop_gained R597* 1789C>T UCEC-US 14 103958316 103958316 single base substitution C T stop_gained R620* 1858C>T UCEC-US 14 103958327 103958327 single base substitution C T exon_variant UCEC-US 14 103958327 103958327 single base substitution C T intron_variant UCEC-US 14 103958327 103958327 single base substitution C T synonymous_variant G187G 561C>T UCEC-US 14 103958327 103958327 single base substitution C T synonymous_variant G351G 1053C>T UCEC-US 14 103958327 103958327 single base substitution C T synonymous_variant G521G 1563C>T UCEC-US 14 103958327 103958327 single base substitution C T synonymous_variant G584G 1752C>T UCEC-US 14 103958327 103958327 single base substitution C T synonymous_variant G600G 1800C>T UCEC-US 14 103958327 103958327 single base substitution C T synonymous_variant G623G 1869C>T UCEC-US 14 103969222 103969222 single base substitution C T exon_variant UCEC-US 14 103969222 103969222 single base substitution C T synonymous_variant R109R 327C>T UCEC-US 14 103969222 103969222 single base substitution C T synonymous_variant R218R 654C>T UCEC-US 14 103969222 103969222 single base substitution C T synonymous_variant R391R 1173C>T UCEC-US 14 103969222 103969222 single base substitution C T synonymous_variant R546R 1638C>T UCEC-US 14 103969222 103969222 single base substitution C T synonymous_variant R600R 1800C>T UCEC-US 14 103969222 103969222 single base substitution C T synonymous_variant R616R 1848C>T UCEC-US 14 103969222 103969222 single base substitution C T synonymous_variant R631R 1893C>T UCEC-US 14 103969222 103969222 single base substitution C T synonymous_variant R639R 1917C>T UCEC-US 14 103969222 103969222 single base substitution C T synonymous_variant R640R 1920C>T UCEC-US 14 103969222 103969222 single base substitution C T synonymous_variant R663R 1989C>T UCEC-US 14 103969264 103969264 single base substitution G T exon_variant UCEC-US 14 103969264 103969264 single base substitution G T missense_variant K123N 369G>T UCEC-US 14 103969264 103969264 single base substitution G T missense_variant K232N 696G>T UCEC-US 14 103969264 103969264 single base substitution G T missense_variant K405N 1215G>T UCEC-US 14 103969264 103969264 single base substitution G T missense_variant K560N 1680G>T UCEC-US 14 103969264 103969264 single base substitution G T missense_variant K614N 1842G>T UCEC-US 14 103969264 103969264 single base substitution G T missense_variant K630N 1890G>T UCEC-US 14 103969264 103969264 single base substitution G T missense_variant K645N 1935G>T UCEC-US 14 103969264 103969264 single base substitution G T missense_variant K653N 1959G>T UCEC-US 14 103969264 103969264 single base substitution G T missense_variant K654N 1962G>T UCEC-US 14 103969264 103969264 single base substitution G T missense_variant K677N 2031G>T UCEC-US 14 103969323 103969323 single base substitution A G exon_variant UCEC-US 14 103969323 103969323 single base substitution A G missense_variant D143G 428A>G UCEC-US 14 103969323 103969323 single base substitution A G missense_variant D252G 755A>G UCEC-US 14 103969323 103969323 single base substitution A G missense_variant D425G 1274A>G UCEC-US 14 103969323 103969323 single base substitution A G missense_variant D580G 1739A>G UCEC-US 14 103969323 103969323 single base substitution A G missense_variant D634G 1901A>G UCEC-US 14 103969323 103969323 single base substitution A G missense_variant D650G 1949A>G UCEC-US 14 103969323 103969323 single base substitution A G missense_variant D665G 1994A>G UCEC-US 14 103969323 103969323 single base substitution A G missense_variant D673G 2018A>G UCEC-US 14 103969323 103969323 single base substitution A G missense_variant D674G 2021A>G UCEC-US 14 103969323 103969323 single base substitution A G missense_variant D697G 2090A>G

Mutation - COSMIC Sample Name Mutation ID Mutation CDS Mutation AA Mutation Description Mutation Genome Position Mutation Strand ESCC_33 COSM5628248 c.883C>A p.R295S Substitution - Missense 14:103466077-103466077 + S02209 COSM4049271 c.204A>G p.A68A Substitution - coding silent 14:103405228-103405228 + RK119_C01 COSM3744230 c.1685G>A p.R562H Substitution - Missense 14:103491875-103491875 + TCGA-14-0865 COSM2154942 c.54C>T p.H18H Substitution - coding silent 14:103405078-103405078 + TCGA-FS-A1ZQ-06 COSM3493973 c.673C>T p.Q225* Substitution - Nonsense 14:103465689-103465689 + 169 COSM3729073 c.1483-10delT p.? Unknown 14:103480377-103480377 + UM-SCC-4 COSM4591894 c.1181T>C p.F394S Substitution - Missense TCGA-Q1-A73O-01 COSM4835312 c.1990G>A p.D664N Substitution - Missense 14:103503075-103503075 + TCGA-B5-A0JY-01 COSM953634 c.1741C>T p.R581* Substitution - Nonsense 14:103491979-103491979 + TCGA-22-0944-01 COSM696995 c.1325G>T p.S442I Substitution - Missense 14:103475101-103475101 + WSU-HN30 COSM4591894 c.1181T>C p.F394S Substitution - Missense BHY COSM4591894 c.1181T>C p.F394S Substitution - Missense TCGA-DK-A1AC-01 COSM1300411 c.2055G>T p.L685L Substitution - coding silent 14:103503140-103503140 + TCGA-G4-6295-01 COSM3689950 c.845A>G p.N282S Substitution - Missense 14:103466039-103466039 + TCGA-BR-4184-01 COSM4049282 c.1442C>T p.A481V Substitution - Missense 14:103475170-103475170 + TCGA-EE-A3AB-06 COSM3493993 c.1805T>C p.V602A Substitution - Missense 14:103502890-103502890 + YURISA COSM5381902 c.2205G>A p.G735G Substitution - coding silent 14:103503170-103503170 + CAL27 COSM4591892 c.1229T>C p.F410S Substitution - Missense SNU-175 COSM2025485 c.885C>T p.R295R Substitution - coding silent 14:103466079-103466079 + T3174 COSM4700733 c.1202G>A p.R401H Substitution - Missense 14:103468172-103468172 + TCGA-D7-6525-01 COSM4049278 c.1197G>A p.Q399Q Substitution - coding silent 14:103468119-103468119 + SCC-25 COSM4591894 c.1181T>C p.F394S Substitution - Missense TCGA-EE-A29A-06 COSM3885670 c.79G>A p.E27K Substitution - Missense 14:103405103-103405103 + cSCCP7 COSM143667 c.22_23CC>TT p.P8L Substitution - Missense 14:103386051-103386052 + ORL-48 COSM4591892 c.1229T>C p.F410S Substitution - Missense TCGA-ER-A19H-06 COSM3493987 c.1527C>T p.G509G Substitution - coding silent 14:103480479-103480479 + WSU-HN6 COSM4591894 c.1181T>C p.F394S Substitution - Missense CSCC-27-T COSM4475332 c.1860C>T p.F620F Substitution - coding silent 14:103502945-103502945 + TCGA-13-0714-01 COSM116219 c.358G>A p.E120K Substitution - Missense 14:103451929-103451929 + TCGA-AP-A056-01 COSM953635 c.1752C>T p.G584G Substitution - coding silent 14:103491990-103491990 + TCGA-AC-A23H-01 COSM3814291 c.800G>A p.R267K Substitution - Missense 14:103465994-103465994 + UD-SCC-2 COSM4591892 c.1229T>C p.F410S Substitution - Missense PTC-54C COSM4147838 c.1740T>C p.P580P Substitution - coding silent 14:103491930-103491930 + TCGA-A6-6780-01 COSM1368420 c.1675G>A p.A559T Substitution - Missense 14:103491913-103491913 + TCGA-BH-A0EE-01 COSM432705 c.1893T>G p.D631E Substitution - Missense 14:103502978-103502978 + TCGA-CG-4438-01 COSM4049269 c.204A>G p.A68A Substitution - coding silent 14:103405228-103405228 + UM-SCC-2 COSM4591894 c.1181T>C p.F394S Substitution - Missense TCGA-D9-A1JW-06 COSM3493994 c.2014C>T p.P672S Substitution - Missense 14:103502979-103502979 + PCSI_0072_Pa_X COSM3377347 c.2107G>A p.G703R Substitution - Missense 14:103503072-103503072 + TCGA-BR-6453-01 COSM4049287 c.1483-2A>T p.? Unknown 14:103480385-103480385 + BD173T COSM5500098 c.1586+5G>T p.? Unknown 14:103480495-103480495 + T3174 COSM4700731 c.1250G>A p.R417H Substitution - Missense 14:103468172-103468172 + ESCC_BICR_036T COSM5432080 c.59C>T p.S20L Substitution - Missense 14:103405083-103405083 + UM-SCC-17B COSM4591892 c.1229T>C p.F410S Substitution - Missense TCGA-D3-A2JD-06 COSM3493988 c.1695C>T p.F565F Substitution - coding silent 14:103491885-103491885 + ESO-2143 COSM1257346 c.1131C>G p.L377L Substitution - coding silent 14:103468101-103468101 + NOKSI COSM4591892 c.1229T>C p.F410S Substitution - Missense TCGA-BR-A4QL-01 COSM4049275 c.1157A>G p.K386R Substitution - Missense 14:103468079-103468079 + Pat_45_A COSM5847618 c.946C>T p.L316F Substitution - Missense 14:103466391-103466391 + TCGA-HE-7130-01 COSM3987523 c.760G>C p.D254H Substitution - Missense 14:103465776-103465776 + UM-SCC-2 COSM4591892 c.1229T>C p.F410S Substitution - Missense WSU-HN12 COSM4591892 c.1229T>C p.F410S Substitution - Missense UPCI:SCC090 COSM4591894 c.1181T>C p.F394S Substitution - Missense 3N02-VS-3T02 COSM4978439 c.1960G>C p.E654Q Substitution - Missense 14:103503045-103503045 + Pat_66_A COSM3744230 c.1685G>A p.R562H Substitution - Missense 14:103491875-103491875 + TCGA-AX-A05Z-01 COSM116219 c.358G>A p.E120K Substitution - Missense 14:103451929-103451929 + SNUH_G76_S1 COSM4418154 c.413-4A>G p.? Unknown 14:103457138-103457138 + YURISA COSM5381904 c.2085G>A p.G695G Substitution - coding silent 14:103503170-103503170 + TCGA-AX-A05S-01 COSM953626 c.782_783insGA p.V265fs*3 Insertion - Frameshift 14:103465976-103465977 + TCGA-D3-A2JD-06 COSM3493990 c.1647C>T p.F549F Substitution - coding silent 14:103491885-103491885 + ZZUFHECRKL-G072T COSM5432873 c.1190C>G p.T397S Substitution - Missense 14:103468112-103468112 + ESO-2143 COSM1257347 c.1821A>G p.K607K Substitution - coding silent 14:103502906-103502906 + TCGA-A6-6781-01 COSM1368418 c.857G>A p.R286H Substitution - Missense 14:103466051-103466051 + UM-SCC-11B COSM4591894 c.1181T>C p.F394S Substitution - Missense N695T COSM236487 c.1129C>A p.L377I Substitution - Missense 14:103468099-103468099 + TCGA-39-5027-01 COSM696998 c.926C>A p.A309E Substitution - Missense 14:103466371-103466371 + TCGA-AP-A051-01 COSM953631 c.1394C>T p.A465V Substitution - Missense 14:103475170-103475170 + 587224 COSM1214578 c.1855C>T p.R619C Substitution - Missense 14:103502940-103502940 + TCGA-CA-6717-01 COSM1368417 c.476T>G p.F159C Substitution - Missense 14:103457205-103457205 + 93VU147T COSM4591892 c.1229T>C p.F410S Substitution - Missense CAL33 COSM4591894 c.1181T>C p.F394S Substitution - Missense WSU-HN13 COSM4591892 c.1229T>C p.F410S Substitution - Missense UM-SCC-4 COSM4591892 c.1229T>C p.F410S Substitution - Missense PCSI_0072_Pa_X COSM3377349 c.1987G>A p.G663R Substitution - Missense 14:103503072-103503072 + TCGA-D5-6536-01 COSM5163641 c.1269_1270insC p.A425fs*19 Insertion - Frameshift 14:103474997-103474998 + LUAD-D01382 COSM337001 c.568A>G p.M190V Substitution - Missense 14:103465584-103465584 + D22 COSM5007442 c.1510C>T p.R504* Substitution - Nonsense 14:103480414-103480414 + PDA_062 COSM5001182 c.1973T>C p.L658P Substitution - Missense 14:103503058-103503058 + OSCC-GB_00940111 COSM4891644 c.1039G>C p.E347Q Substitution - Missense 14:103467120-103467120 + PD11399a COSM5779834 c.1355C>T p.A452V Substitution - Missense 14:103475131-103475131 + HCT116 COSM4049281 c.1292C>T p.A431V Substitution - Missense 14:103475020-103475020 + TCGA-BR-7717-01 COSM4049274 c.540G>A p.K180K Substitution - coding silent 14:103462461-103462461 + ESO-005 COSM1257345 c.382_383delCT p.Y129fs*10 Deletion - Frameshift 14:103451953-103451954 + TCGA-AA-A010-01 COSM282676 c.653A>G p.Y218C Substitution - Missense 14:103465669-103465669 + TCGA-39-5024-01 COSM696994 c.1521G>A p.Q507Q Substitution - coding silent 14:103480473-103480473 + WSU-HN13 COSM4591894 c.1181T>C p.F394S Substitution - Missense U251 COSM1678275 c.739G>A p.V247I Substitution - Missense 14:103465755-103465755 + 2250160 COSM5029678 c.141A>G p.A47A Substitution - coding silent 14:103405165-103405165 + TCGA-AG-A002-01 COSM261922 c.2123C>T p.A708V Substitution - Missense 14:103503208-103503208 + 24 COSM5748530 c.1879A>G p.T627A Substitution - Missense 14:103500163-103500163 + SNU-175 COSM4243606 c.885C>T p.R295R Substitution - coding silent 14:103466079-103466079 + TCGA-EE-A2A2-06 COSM3493984 c.1466G>C p.R489P Substitution - Missense 14:103480418-103480418 + HCC2998 COSM3493972 c.358G>A p.E120K Substitution - Missense 14:103451929-103451929 + TCGA-BH-A0EE-01 COSM5216418 c.2013T>G p.D671E Substitution - Missense 14:103502978-103502978 + TCGA-32-2495-01 COSM3401125 c.1057A>C p.K353Q Substitution - Missense 14:103467138-103467138 + TCGA-BR-6453-01 COSM4049289 c.1435-2A>T p.? Unknown 14:103480385-103480385 + TCGA-AC-A23H-01 COSM3814289 c.800G>A p.R267K Substitution - Missense 14:103465994-103465994 + PT42 COSM5925792 c.532G>A p.D178N Substitution - Missense 14:103462453-103462453 + TCGA-AA-A00N-01 COSM275994 c.1062C>T p.Y354Y Substitution - coding silent 14:103467143-103467143 + C037 COSM5524412 c.112C>T p.R38W Substitution - Missense 14:103405136-103405136 + TCGA-33-4583-01 COSM697000 c.307G>T p.E103* Substitution - Nonsense 14:103448928-103448928 + RK119_C01 COSM3744232 c.1637G>A p.R546H Substitution - Missense 14:103491875-103491875 + LIM2551 COSM4643818 c.44C>A p.T15N Substitution - Missense 14:103386073-103386073 + PD11748a COSM5793198 c.1915A>C p.I639L Substitution - Missense 14:103503000-103503000 + TCGA-BR-7717-01 COSM4049272 c.540G>A p.K180K Substitution - coding silent 14:103462461-103462461 + PD8964a COSM5795786 c.58T>C p.S20P Substitution - Missense 14:103405082-103405082 + WSU-HN6 COSM4591892 c.1229T>C p.F410S Substitution - Missense KM12 COSM4243610 c.1110G>T p.E370D Substitution - Missense 14:103467191-103467191 + TCGA-EE-A2ME-06 COSM3493978 c.817C>T p.P273S Substitution - Missense 14:103466011-103466011 + SCC-15 COSM4591892 c.1229T>C p.F410S Substitution - Missense BD236T COSM5519281 c.1718G>A p.R573Q Substitution - Missense 14:103491908-103491908 + TCGA-ER-A19H-06 COSM3493985 c.1575C>T p.G525G Substitution - coding silent 14:103480479-103480479 + LIM2551 COSM4643816 c.44C>A p.T15N Substitution - Missense 14:103386073-103386073 + LS411 COSM4243631 c.2085C>G p.R695R Substitution - coding silent 14:103503050-103503050 + TCGA-CG-4305-01 COSM4049290 c.1717C>T p.R573* Substitution - Nonsense 14:103491907-103491907 + TCGA-D1-A17Q-01 COSM953637 c.1842G>T p.K614N Substitution - Missense 14:103502927-103502927 + Au4 COSM5604051 c.508C>T p.H170Y Substitution - Missense 14:103462429-103462429 + Pat_63_B COSM5847613 c.603T>A p.N201K Substitution - Missense 14:103465619-103465619 + T3105 COSM4700734 c.1606A>T p.T536S Substitution - Missense 14:103491796-103491796 + PDA_062 COSM5001180 c.2093T>C p.L698P Substitution - Missense 14:103503058-103503058 + SCC-9 COSM4591892 c.1229T>C p.F410S Substitution - Missense SC_9022 COSM5566390 c.1661G>A p.R554H Substitution - Missense 14:103491851-103491851 + ESO-859 COSM1239407 c.675G>T p.Q225H Substitution - Missense 14:103465691-103465691 + TCGA-B5-A11H-01 COSM953627 c.783_784delGA p.R264fs*17 Deletion - Frameshift 14:103465977-103465978 + TCGA-G4-6295-01 COSM3689952 c.845A>G p.N282S Substitution - Missense 14:103466039-103466039 + TCGA-CG-4442-01 COSM4049281 c.1292C>T p.A431V Substitution - Missense 14:103475020-103475020 + PD8964a COSM5795788 c.58T>C p.S20P Substitution - Missense 14:103405082-103405082 + HCC66 COSM1607360 c.1219G>A p.G407R Substitution - Missense 14:103474995-103474995 + 169 COSM3729075 c.1435-10delT p.? Unknown 14:103480377-103480377 + TCGA-D9-A1JW-06 COSM3493996 c.1894C>T p.P632S Substitution - Missense 14:103502979-103502979 + HCC66T COSM1607362 c.1220G>T p.G407V Substitution - Missense 14:103474996-103474996 + SNUH_G76_S1 COSM4418156 c.413-4A>G p.? Unknown 14:103457138-103457138 + UM-SCC-17B COSM4591894 c.1181T>C p.F394S Substitution - Missense TCGA-AA-3510-01 COSM1368416 c.186C>T p.I62I Substitution - coding silent 14:103405210-103405210 + TCGA-A6-6780-01 COSM5092815 c.1723G>A p.A575T Substitution - Missense 14:103491913-103491913 + PD13771a COSM5795615 c.1818A>T p.Q606H Substitution - Missense 14:103502903-103502903 + HCC2998 COSM116219 c.358G>A p.E120K Substitution - Missense 14:103451929-103451929 + TCGA-D1-A17Q-01 COSM116219 c.358G>A p.E120K Substitution - Missense 14:103451929-103451929 + TCGA-CG-4438-01 COSM4049271 c.204A>G p.A68A Substitution - coding silent 14:103405228-103405228 + PCSI_0090_Pa_X COSM3377346 c.887G>A p.G296D Substitution - Missense 14:103466081-103466081 + sysucc-731T COSM4418154 c.413-4A>G p.? Unknown 14:103457138-103457138 + SNU-C2B COSM4243616 c.1357C>T p.R453W Substitution - Missense 14:103475085-103475085 + UD-SCC-2 COSM4591894 c.1181T>C p.F394S Substitution - Missense T3262 COSM4700730 c.494C>T p.A165V Substitution - Missense 14:103462415-103462415 + TCGA-AP-A056-01 COSM953628 c.1042T>G p.S348A Substitution - Missense 14:103467123-103467123 + PD11399a COSM5779832 c.1403C>T p.A468V Substitution - Missense 14:103475131-103475131 + HCT116 COSM2025499 c.1244C>T p.A415V Substitution - Missense 14:103475020-103475020 + HCC2998 COSM4243590 c.325A>C p.I109L Substitution - Missense 14:103448946-103448946 + TCGA-CG-4442-01 COSM4049284 c.1456C>T p.R486C Substitution - Missense 14:103475184-103475184 + BICR_22 COSM4591894 c.1181T>C p.F394S Substitution - Missense TCGA-EB-A5SH-06 COSM4399778 c.1401T>C p.I467I Substitution - coding silent 14:103475177-103475177 + SNU-C2B COSM2025501 c.1309C>T p.R437W Substitution - Missense 14:103475085-103475085 + C037 COSM5524414 c.112C>T p.R38W Substitution - Missense 14:103405136-103405136 + BD114T COSM5504082 c.776A>C p.K259T Substitution - Missense 14:103465792-103465792 + TCGA-B5-A11E-01 COSM953636 c.1800C>T p.R600R Substitution - coding silent 14:103502885-103502885 + HOP-92 COSM1678275 c.739G>A p.V247I Substitution - Missense 14:103465755-103465755 + sysucc-311T COSM5478636 c.551T>G p.L184R Substitution - Missense 14:103465567-103465567 + TCGA-FS-A1ZQ-06 COSM3493975 c.673C>T p.Q225* Substitution - Nonsense 14:103465689-103465689 + TCGA-B5-A11E-01 COSM953634 c.1741C>T p.R581* Substitution - Nonsense 14:103491979-103491979 + NOKSI COSM4591894 c.1181T>C p.F394S Substitution - Missense UM-SCC-47 COSM4591892 c.1229T>C p.F410S Substitution - Missense pfg122T COSM4747703 c.451delA p.K151fs*36 Deletion - Frameshift 14:103457180-103457180 + TCGA-BR-4184-01 COSM953631 c.1394C>T p.A465V Substitution - Missense 14:103475170-103475170 + PD11748a COSM5793196 c.2035A>C p.I679L Substitution - Missense 14:103503000-103503000 + sysucc-2215T COSM5765622 c.1851G>T p.M617I Substitution - Missense 14:103498508-103498508 + Pat_45_A COSM5847616 c.946C>T p.L316F Substitution - Missense 14:103466391-103466391 + KM12 COSM2025493 c.1110G>T p.E370D Substitution - Missense 14:103467191-103467191 + ESCC_33 COSM5628246 c.883C>A p.R295S Substitution - Missense 14:103466077-103466077 + TCGA-FS-A1ZZ-06 COSM116219 c.358G>A p.E120K Substitution - Missense 14:103451929-103451929 + SNU-C2B COSM2025509 c.1465C>T p.R489* Substitution - Nonsense 14:103480417-103480417 + PT42 COSM5925790 c.532G>A p.D178N Substitution - Missense 14:103462453-103462453 + TCGA-D1-A17U-01 COSM953625 c.690C>T p.D230D Substitution - coding silent 14:103465706-103465706 + SCC-25 COSM4591892 c.1229T>C p.F410S Substitution - Missense TCGA-AA-3510-01 COSM5099153 c.186C>T p.I62I Substitution - coding silent 14:103405210-103405210 + TCGA-CG-4305-01 COSM4049292 c.1669C>T p.R557* Substitution - Nonsense 14:103491907-103491907 + TCGA-CG-4442-01 COSM4049286 c.1408C>T p.R470C Substitution - Missense 14:103475184-103475184 + HCC66 COSM1607362 c.1220G>T p.G407V Substitution - Missense 14:103474996-103474996 + T3105 COSM4700736 c.1558A>T p.T520S Substitution - Missense 14:103491796-103491796 + HCC66T COSM1607360 c.1219G>A p.G407R Substitution - Missense 14:103474995-103474995 + WSU-HN8 COSM4591894 c.1181T>C p.F394S Substitution - Missense ESCC_BICR_036T COSM5432082 c.59C>T p.S20L Substitution - Missense 14:103405083-103405083 + T3262 COSM4700728 c.494C>T p.A165V Substitution - Missense 14:103462415-103462415 + TCGA-EE-A3AB-06 COSM3493991 c.1925T>C p.V642A Substitution - Missense 14:103502890-103502890 + ZZUFHECRKL-G072T COSM5432875 c.1142C>G p.T381S Substitution - Missense 14:103468112-103468112 + UPCI:SCC090 COSM4591892 c.1229T>C p.F410S Substitution - Missense AGS COSM99045 c.484-2A>G p.? Unknown 14:103462403-103462403 + TCGA-B5-A11E-01 COSM953630 c.1349C>A p.A450D Substitution - Missense 14:103475125-103475125 + WSU-HN12 COSM4591894 c.1181T>C p.F394S Substitution - Missense UM-SCC-47 COSM4591894 c.1181T>C p.F394S Substitution - Missense HCC2998 COSM116219 c.358G>A p.E120K Substitution - Missense 14:103451929-103451929 + TCGA-AP-A051-01 COSM953638 c.1901A>G p.D634G Substitution - Missense 14:103502986-103502986 + WSU-HN8 COSM4591892 c.1229T>C p.F410S Substitution - Missense LS411 COSM2025532 c.1965C>G p.R655R Substitution - coding silent 14:103503050-103503050 + HCC66 COSM3706133 c.1267G>A p.G423R Substitution - Missense 14:103474995-103474995 + CSCC-35-T COSM4503156 c.632C>G p.T211R Substitution - Missense 14:103465648-103465648 + ORL-48 COSM4591894 c.1181T>C p.F394S Substitution - Missense CoCM-1 COSM4620987 c.1252A>G p.K418E Substitution - Missense 14:103475028-103475028 + 3N02-VS-3T02 COSM4978437 c.2080G>C p.E694Q Substitution - Missense 14:103503045-103503045 + TCGA-BS-A0UV-01 COSM953629 c.1291G>T p.E431* Substitution - Nonsense 14:103475067-103475067 + BICR_22 COSM4591892 c.1229T>C p.F410S Substitution - Missense TCGA-32-2495-01 COSM3401127 c.1057A>C p.K353Q Substitution - Missense 14:103467138-103467138 + sysucc-311T COSM5478634 c.551T>G p.L184R Substitution - Missense 14:103465567-103465567 + TCGA-D7-6525-01 COSM4049280 c.1149G>A p.Q383Q Substitution - coding silent 14:103468119-103468119 + Detroit_562 COSM4591892 c.1229T>C p.F410S Substitution - Missense TCGA-D3-A51T-06 COSM3493979 c.818C>T p.P273L Substitution - Missense 14:103466012-103466012 + 93VU147T COSM4591894 c.1181T>C p.F394S Substitution - Missense HCC109T COSM5816818 c.1718G>T p.R573L Substitution - Missense 14:103491908-103491908 + CAL33 COSM4591892 c.1229T>C p.F410S Substitution - Missense CSCC-35-T COSM4503154 c.632C>G p.T211R Substitution - Missense 14:103465648-103465648 + TCGA-AX-A0J0-01 COSM953632 c.1531G>T p.E511* Substitution - Nonsense 14:103480483-103480483 + HCC2998 COSM2025454 c.325A>C p.I109L Substitution - Missense 14:103448946-103448946 + BHY COSM4591892 c.1229T>C p.F410S Substitution - Missense Au4 COSM5604053 c.508C>T p.H170Y Substitution - Missense 14:103462429-103462429 + CAL27 COSM4591894 c.1181T>C p.F394S Substitution - Missense OSCC-GB_00940111 COSM4891646 c.1039G>C p.E347Q Substitution - Missense 14:103467120-103467120 + SNU-C2B COSM4243620 c.1513C>T p.R505* Substitution - Nonsense 14:103480417-103480417 + Detroit_562 COSM4591894 c.1181T>C p.F394S Substitution - Missense WSU-HN30 COSM4591892 c.1229T>C p.F410S Substitution - Missense TCGA-EE-A2ME-06 COSM3493976 c.817C>T p.P273S Substitution - Missense 14:103466011-103466011 + Pat_66_A COSM3744232 c.1637G>A p.R546H Substitution - Missense 14:103491875-103491875 + TCGA-BG-A187-01 COSM953623 c.57G>C p.T19T Substitution - coding silent 14:103405081-103405081 + TCGA-D5-6536-01 COSM1368419 c.1221_1222insC p.A409fs*19 Insertion - Frameshift 14:103474997-103474998 + PTC-54C COSM4147840 c.1692T>C p.P564P Substitution - coding silent 14:103491930-103491930 + HCC66 COSM3706134 c.1268G>T p.G423V Substitution - Missense 14:103474996-103474996 + TCGA-HE-7130-01 COSM3987525 c.760G>C p.D254H Substitution - Missense 14:103465776-103465776 + TCGA-AG-3892-01 COSM116219 c.358G>A p.E120K Substitution - Missense 14:103451929-103451929 + SCC-9 COSM4591894 c.1181T>C p.F394S Substitution - Missense 1N59-VS-1T59 COSM4977557 c.367G>C p.E123Q Substitution - Missense 14:103451938-103451938 + TCGA-B4-5377-01 COSM469690 c.6C>T p.S2S Substitution - coding silent 14:103386035-103386035 + Br11P COSM41155 c.1915_1923delATCCGCAAA p.I639_K641delIRK Deletion - In frame 14:103503000-103503008 + TCGA-CA-6717-01 COSM5828055 c.476T>G p.F159C Substitution - Missense 14:103457205-103457205 + TCGA-EE-A2A2-06 COSM3493982 c.1514G>C p.R505P Substitution - Missense 14:103480418-103480418 + TCGA-33-4586-01 COSM696999 c.591C>T p.F197F Substitution - coding silent 14:103465607-103465607 + TCGA-BR-8680-01 COSM4049268 c.187G>A p.G63S Substitution - Missense 14:103405211-103405211 + sysucc-731T COSM4418156 c.413-4A>G p.? Unknown 14:103457138-103457138 + BD114T COSM5504084 c.776A>C p.K259T Substitution - Missense 14:103465792-103465792 + CSCC-27-T COSM4475330 c.1980C>T p.F660F Substitution - coding silent 14:103502945-103502945 + PD13771a COSM5795613 c.1938A>T p.Q646H Substitution - Missense 14:103502903-103502903 + HCC109T COSM5816820 c.1670G>T p.R557L Substitution - Missense 14:103491908-103491908 + UM-SCC-11B COSM4591892 c.1229T>C p.F410S Substitution - Missense TCGA-EB-A5SH-06 COSM4399776 c.1449T>C p.I483I Substitution - coding silent 14:103475177-103475177 + TCGA-B5-A11N-01 COSM953624 c.357C>T p.F119F Substitution - coding silent 14:103451928-103451928 + 1N59-VS-1T59 COSM4977555 c.367G>C p.E123Q Substitution - Missense 14:103451938-103451938 + OCC03PT COSM88598 c.1918C>T p.R640C Substitution - Missense 14:103503003-103503003 + 177T COSM1726094 c.94A>C p.T32P Substitution - Missense 14:103405118-103405118 + ESO-555 COSM1257348 c.51+1G>T p.? Unknown 14:103386081-103386081 + TCGA-EE-A29A-06 COSM3885668 c.79G>A p.E27K Substitution - Missense 14:103405103-103405103 + TCGA-21-1070-01 COSM696996 c.1318A>G p.S440G Substitution - Missense 14:103475094-103475094 + 113T COSM1725304 c.925G>T p.A309S Substitution - Missense 14:103466370-103466370 + TCGA-CG-4442-01 COSM2025499 c.1244C>T p.A415V Substitution - Missense 14:103475020-103475020 + TCGA-D3-A51T-06 COSM3493981 c.818C>T p.P273L Substitution - Missense 14:103466012-103466012 + TCGA-D1-A17H-01 COSM953633 c.1640G>T p.S547I Substitution - Missense 14:103491878-103491878 + TCGA-BR-8680-01 COSM4049266 c.187G>A p.G63S Substitution - Missense 14:103405211-103405211 + 2_PRE-TREATMENT COSM953627 c.783_784delGA p.R264fs*17 Deletion - Frameshift 14:103465977-103465978 + TCGA-A5-A0GW-01 COSM953627 c.783_784delGA p.R264fs*17 Deletion - Frameshift 14:103465977-103465978 + D22 COSM5007444 c.1462C>T p.R488* Substitution - Nonsense 14:103480414-103480414 + TCGA-A6-6781-01 COSM5093716 c.857G>A p.R286H Substitution - Missense 14:103466051-103466051 + TCGA-BR-A4QL-01 COSM4049277 c.1111-2A>G p.? Unknown 14:103468079-103468079 + TCGA-Q1-A73O-01 COSM4835310 c.2110G>A p.D704N Substitution - Missense 14:103503075-103503075 + BD236T COSM5519283 c.1670G>A p.R557Q Substitution - Missense 14:103491908-103491908 + SC_9022 COSM5566392 c.1613G>A p.R538H Substitution - Missense 14:103491851-103491851 + PCSI_0090_Pa_X COSM3377344 c.887G>A p.G296D Substitution - Missense 14:103466081-103466081 + CoCM-1 COSM4620985 c.1300A>G p.K434E Substitution - Missense 14:103475028-103475028 + pfg122T COSM4747705 c.451delA p.K151fs*36 Deletion - Frameshift 14:103457180-103457180 + BD173T COSM5500100 c.1538+5G>T p.? Unknown 14:103480495-103480495 + PD4120a COSM124335 c.1030G>A p.E344K Substitution - Missense 14:103467111-103467111 + TCGA-CH-5752-01 COSM116219 c.358G>A p.E120K Substitution - Missense 14:103451929-103451929 + Pat_63_B COSM5847615 c.603T>A p.N201K Substitution - Missense 14:103465619-103465619 + TCGA-FS-A1ZZ-06 COSM3493972 c.358G>A p.E120K Substitution - Missense 14:103451929-103451929 + 2250160 COSM5029680 c.141A>G p.A47A Substitution - coding silent 14:103405165-103405165 + LUAD-D02185 COSM338503 c.704A>T p.D235V Substitution - Missense 14:103465720-103465720 + SCC-15 COSM4591894 c.1181T>C p.F394S Substitution - Missense HN_00076 COSM124335 c.1030G>A p.E344K Substitution - Missense 14:103467111-103467111 + S02209 COSM4049269 c.204A>G p.A68A Substitution - coding silent 14:103405228-103405228 +

Mutation - CGAP UNIGENE CYTOBAND OMIM SNP Hs.35828 14q32.3 602678 2408937|CGAP|BC024773|A/G|non-coding||3023|Validated

Mutation - IntOGen Mutated from(ref) Mutated to(alt) Consequence Type AA Mutation CDS Mutation Chr Pos Cancer A C Missense p.K353Q c.1057A>C 14 103933475 GBM A G Missense p.I544V c.1630A>G 14 103958157 HNSC A G Missense p.M190V c.568A>G 14 103931921 LUAD A G Missense p.S456G c.1366A>G 14 103941431 LUSC A G Synonymous p.A68A c.204A>G 14 103871565 STAD A G Synonymous p.K647K c.1941A>G 14 103969243 ESCA ATCCGCAAA - InFrameDeletion p.I679_K681delIRK c.2035_2043delATCCGCAAA 14 103969337 GBM A T Missense p.M471L c.1411A>T 14 103941476 LUAD A T Missense p.Y629F c.1886A>T 14 103966507 LUAD C A Missense p.A309E c.926C>A 14 103932708 LUSC C G IntronicSNV . c.243+3201C>G 14 103874805 CLL C G IntronicSNV . c.244-6749C>G 14 103887975 CLL C G Missense p.S42C c.125C>G 14 103871486 LUAD C G Synonymous p.L393L c.1179C>G 14 103934438 ESCA CT - Frameshift p.Y129Pfs*10 c.384_385delCT 14 103918290 ESCA C T IntronicSNV . c.1110+58C>T 14 103933586 CM C T IntronicSNV . c.51+174C>T 14 103852591 CM C T Missense p.P273S c.817C>T 14 103932348 CM C T Missense p.P672S c.2014C>T 14 103969316 CM C T Missense p.S411L c.1232C>T 14 103934491 ALL C T Nonsense p.Q225* c.673C>T 14 103932026 CM C T Nonsense p.R573* c.1717C>T 14 103958244 STAD C T Synonymous p.F197F c.591C>T 14 103931944 LUSC C T Synonymous p.F565F c.1695C>T 14 103958222 CM C T Synonymous p.G525G c.1575C>T 14 103946816 CM - GA Frameshift p.R262Efs*6 c.783_784insGA 14 103932314 UCEC GA - Frameshift p.R264Sfs*17 c.792_793delAG 14 103932314 UCEC G A Missense p.E120K c.358G>A 14 103918266 CM G A Missense p.E120K c.358G>A 14 103918266 OV G A Missense p.E120K c.358G>A 14 103918266 PRAD G A Missense p.E27K c.79G>A 14 103871440 CM G A Missense p.E344K c.1030G>A 14 103933448 BRCA G A Missense p.E344K c.1030G>A 14 103933448 HNSC G A Synonymous p.Q399Q c.1197G>A 14 103934456 STAD G A Synonymous p.Q523Q c.1569G>A 14 103946810 LUSC G C Missense p.R505P c.1514G>C 14 103946755 CM G C Synonymous p.T19T c.57G>C 14 103871418 UCEC G T Missense p.Q225H c.675G>T 14 103932028 ESCA G T Missense p.S458I c.1373G>T 14 103941438 LUSC G T Nonsense p.E103* c.307G>T 14 103915265 LUSC G T SpliceDonorSNV . c.51+1G>T 14 103852418 ESCA T C Missense p.V642A c.1925T>C 14 103969227 CM T G Missense p.D671E c.2013T>G 14 103969315 BRCA T G Nonsense p.L266* c.797T>G 14 103932328 LUAD