hgvs chromosome start stop read variant reference_version gene mutation_type amino_acid diseases pubmed_sources ENST00000361445:c.7514G>C 1 11169361 11169361 C G GRCh37 MTOR missense p.R2505P renal carcinoma 24631838 ENST00000361445:c.7500T>G 1 11169375 11169375 A C GRCh37 MTOR missense p.I2500M uterine corpus endometrial carcinoma,gastric adenocarcinoma,renal clear cell carcinoma,breast cancer 26619011 ENST00000361445:c.7498A>T 1 11169377 11169377 T A GRCh37 MTOR missense p.I2500F uterine corpus endometrial carcinoma,gastric adenocarcinoma,renal clear cell carcinoma,breast cancer 26619011 ENST00000361445:c.7255G>A 1 11174420 11174420 C T GRCh37 MTOR missense p.E2419K urinary bladder urothelial carcinoma 24625776 ENST00000361445:c.6667C>A 1 11182179 11182179 G T GRCh37 MTOR missense p.Q2223K renal carcinoma 24622468 ENST00000361445:c.6644C>A 1 11184573 11184573 G T GRCh37 MTOR missense p.S2215Y renal carcinoma,colorectal cancer,uterine corpus endometrial carcinoma,skin melanoma,cervix carcinoma,papillary renal cell carcinoma,renal clear cell carcinoma,glioblastoma multiforme 24631838,26619011 ENST00000361445:c.6644C>T 1 11184573 11184573 G A GRCh37 MTOR missense p.S2215F colorectal cancer,uterine corpus endometrial carcinoma,skin melanoma,cervix carcinoma,papillary renal cell carcinoma,renal clear cell carcinoma,glioblastoma multiforme 26619011 ENST00000361445:c.6643T>A 1 11184574 11184574 A T GRCh37 MTOR missense p.S2215T colorectal cancer,uterine corpus endometrial carcinoma,skin melanoma,cervix carcinoma,papillary renal cell carcinoma,renal clear cell carcinoma,glioblastoma multiforme 26619011 ENST00000361445:c.6637C>T 1 11184580 11184580 G A GRCh37 MTOR missense p.P2213S melanoma 26490311 ENST00000361445:c.6324C>A 1 11187094 11187094 G T GRCh37 MTOR missense p.F2108L thyroid carcinoma 25295501 ENST00000361445:c.6040G>A 1 11187857 11187857 C T GRCh37 MTOR missense p.E2014K urinary bladder urothelial carcinoma 24625776 ENST00000361445:c.5902C>T 1 11188519 11188519 G A GRCh37 MTOR missense p.H1968Y melanoma 26490311 ENST00000361445:c.4449C>G 1 11217229 11217229 G C GRCh37 MTOR missense p.C1483W renal clear cell carcinoma,glioblastoma multiforme,breast cancer 26619011 ENST00000361445:c.4448G>T 1 11217230 11217230 C A GRCh37 MTOR missense p.C1483F renal clear cell carcinoma,glioblastoma multiforme,breast cancer 26619011 ENST00000361445:c.4448G>A 1 11217230 11217230 C T GRCh37 MTOR missense p.C1483Y renal clear cell carcinoma,glioblastoma multiforme,breast cancer 26619011 ENST00000361445:c.4447T>C 1 11217231 11217231 A G GRCh37 MTOR missense p.C1483R renal clear cell carcinoma,glioblastoma multiforme,breast cancer 26619011 ENST00000361445:c.4379T>C 1 11217299 11217299 A G GRCh37 MTOR missense p.L1460P renal carcinoma 24631838 ENST00000376592:c.665C>T 1 11856378 11856378 G A GRCh37 MTHFR missense p.A222V stomach cancer 18704422 ENST00000358432:c.2162G>A 1 16458722 16458722 C T GRCh37 EPHA2 missense p.R721Q cortical senile cataract 19649315 ENST00000358432:c.1171G>C 1 16464489 16464489 C G GRCh37 EPHA2 missense p.G391R lung squamous cell carcinoma 20360610 ENST00000358432:c.1171G>A 1 16464489 16464489 C T GRCh37 EPHA2 missense p.G391R lung squamous cell carcinoma 20360610 ENST00000374632:c.2359G>A 1 23235518 23235518 G A GRCh37 EPHB2 missense p.G787R colorectal cancer 18682749 ENST00000373103:c.1853C>T 1 36933434 36933434 G A GRCh37 CSF3R missense p.T618I acute myeloid leukemia,chronic myeloid leukemia 23634996,23656643 ENST00000373103:c.1843A>G 1 36933444 36933444 T C GRCh37 CSF3R missense p.T615A chronic myeloid leukemia 23656643 ENST00000372470:c.1513A>T 1 43814978 43814978 A T GRCh37 MPL missense p.S505C chronic myeloproliferative disease 21228032 ENST00000372470:c.1514G>A 1 43814979 43814979 G A GRCh37 MPL missense p.S505N hemorrhagic thrombocythemia,chronic myeloproliferative disease,myelofibrosis 18451306,18528423,19608689,20151976,23970983 ENST00000372470:c.1544G>T 1 43815009 43815009 G T GRCh37 MPL missense p.W515L hematologic cancer 16834459 ENST00000342505:c.1972G>T 1 65312347 65312347 C A GRCh37 JAK1 missense p.V658F polycythemia vera,acute myeloid leukemia,acute lymphocytic leukemia,acute leukemia 16239216,21436584,21680795,19139102,19470474,19838194 ENST00000342505:c.1937C>T 1 65312382 65312382 G A GRCh37 JAK1 missense p.S646F acute lymphocytic leukemia 22955920 ENST00000342505:c.1901C>A 1 65312418 65312418 G T GRCh37 JAK1 missense p.A634D acute lymphocytic leukemia 20167706 ENST00000369535:c.183A>T 1 115256528 115256528 T A GRCh37 NRAS missense p.Q61H melanoma,acute myeloid leukemia,skin melanoma,thyroid carcinoma,multiple myeloma,colorectal cancer,uterine corpus endometrial carcinoma,lung adenocarcinoma,chronic lymphocytic leukemia,urinary bladder urothelial carcinoma,gastric adenocarcinoma,ovarian serous cystadenocarcinoma,nasopharynx carcinoma,hepatocellular carcinoma,brain glioma,chromophobe adenocarcinoma,glioblastoma multiforme,adrenocortical carcinoma 2674680,8120410,16291983,18390968,20130576,20179705,22761467,23414587,23538902,23569304,23614898,23076151,19657110,25157968,26619011 ENST00000369535:c.183A>C 1 115256528 115256528 T G GRCh37 NRAS missense p.Q61H non-small cell lung carcinoma,melanoma,acute myeloid leukemia 12460918,2674680,8120410,16291983,18390968,18948947,20130576,20179705,22761467,23414587,23515407,23538902,23569304,23614898,23076151,19657110,25157968 ENST00000369535:c.182AA>TG 1 115256528 115256529 TT CA GRCh37 NRAS missense p.Q61L melanoma 2674680,8120410,16291983,18390968,20130576,20179705,22761467,23414587,23538902,23569304,23614898,20149136,20406486,25157968 ENST00000369535:c.182AA>GG 1 115256528 115256529 TT CC GRCh37 NRAS missense p.Q61R melanoma 2674680,8120410,16291983,18390968,20130576,20179705,22761467,23414587,23538902,23569304,23614898 ENST00000369535:c.182A>G 1 115256529 115256529 T C GRCh37 NRAS missense p.Q61R colorectal cancer,melanoma,non-small cell lung carcinoma,thyroid cancer,acute myeloid leukemia,skin melanoma,thyroid carcinoma,multiple myeloma,uterine corpus endometrial carcinoma,lung adenocarcinoma,chronic lymphocytic leukemia,urinary bladder urothelial carcinoma,gastric adenocarcinoma,ovarian serous cystadenocarcinoma,nasopharynx carcinoma,hepatocellular carcinoma,brain glioma,chromophobe adenocarcinoma,glioblastoma multiforme,adrenocortical carcinoma 16273091,2674680,8120410,12460918,16291983,17384584,17699718,18390968,18948947,19255327,19773371,20130576,20179705,20619739,20736745,21107323,21305640,21729679,21829508,22761467,23406027,23414587,23515407,23538902,23569304,23614898,2278970,3122217,16434492,19075190,22407852,25157968,21576590,26619011 ENST00000369535:c.182A>T 1 115256529 115256529 T A GRCh37 NRAS missense p.Q61L melanoma,non-small cell lung carcinoma,skin melanoma,thyroid carcinoma,multiple myeloma,colorectal cancer,acute myeloid leukemia,uterine corpus endometrial carcinoma,lung adenocarcinoma,chronic lymphocytic leukemia,urinary bladder urothelial carcinoma,gastric adenocarcinoma,ovarian serous cystadenocarcinoma,nasopharynx carcinoma,hepatocellular carcinoma,brain glioma,chromophobe adenocarcinoma,glioblastoma multiforme,adrenocortical carcinoma 2674680,8120410,12460918,16291983,18390968,18948947,20130576,20179705,22761467,23414587,23515407,23538902,23569304,23614898,20149136,20406486,25157968,21576590,26619011 ENST00000369535:c.182A>C 1 115256529 115256529 T G GRCh37 NRAS missense p.Q61P melanoma,non-small cell lung carcinoma,skin melanoma,thyroid carcinoma,multiple myeloma,colorectal cancer,acute myeloid leukemia,uterine corpus endometrial carcinoma,lung adenocarcinoma,chronic lymphocytic leukemia,urinary bladder urothelial carcinoma,gastric adenocarcinoma,ovarian serous cystadenocarcinoma,nasopharynx carcinoma,hepatocellular carcinoma,brain glioma,chromophobe adenocarcinoma,glioblastoma multiforme,adrenocortical carcinoma 2674680,8120410,16291983,18390968,20130576,20179705,22761467,23414587,23538902,23569304,23614898,24370118,25157968,26619011 ENST00000369535:c.181CA>AG 1 115256529 115256530 TG CT GRCh37 NRAS missense p.Q61R melanoma 25157968 ENST00000369535:c.181C>A 1 115256530 115256530 G T GRCh37 NRAS missense p.Q61K thyroid cancer,colorectal cancer,melanoma,non-small cell lung carcinoma,acute myeloid leukemia,neuroblastoma,skin melanoma,thyroid carcinoma,multiple myeloma,uterine corpus endometrial carcinoma,lung adenocarcinoma,chronic lymphocytic leukemia,urinary bladder urothelial carcinoma,gastric adenocarcinoma,ovarian serous cystadenocarcinoma,nasopharynx carcinoma,hepatocellular carcinoma,brain glioma,chromophobe adenocarcinoma,glioblastoma multiforme,adrenocortical carcinoma 17384584,17699718,2674680,8120410,12460918,16273091,16291983,18390968,18948947,19255327,19773371,20130576,20179705,20619739,20736745,21107323,21305640,21729679,21829508,22761467,23406027,23414587,23515407,23538902,23569304,23614898,19657110,26821351,26619011 ENST00000369535:c.181C>G 1 115256530 115256530 G C GRCh37 NRAS missense p.Q61E melanoma 2674680,8120410,16291983,18390968,20130576,20179705,22761467,23414587,23538902,23569304,23614898,25157968 ENST00000369535:c.181C>T 1 115256530 115256530 G A GRCh37 NRAS stop_lost p.Q61* melanoma 23076151,25157968 ENST00000369535:c.52G>A 1 115258730 115258730 C T GRCh37 NRAS missense p.A18T melanoma 24918823,25157968 ENST00000369535:c.38G>T 1 115258744 115258744 C A GRCh37 NRAS missense p.G13V melanoma,acute myeloid leukemia,cancer,multiple myeloma,skin melanoma,colorectal cancer,myelodysplastic syndrome,gastric adenocarcinoma,medulloblastoma,non-Hodgkin lymphoma,urinary bladder urothelial carcinoma 2674680,8120410,16291983,18390968,20130576,20179705,23414587,19657110,25157968,26619011 ENST00000369535:c.38G>C 1 115258744 115258744 C G GRCh37 NRAS missense p.G13A melanoma 2674680,8120410,16291983,18390968,20130576,20179705,23414587,25157968 ENST00000369535:c.38G>A 1 115258744 115258744 C T GRCh37 NRAS missense p.G13D melanoma,acute myeloid leukemia,multiple myeloma,skin melanoma,colorectal cancer,myelodysplastic syndrome,gastric adenocarcinoma,medulloblastoma,non-Hodgkin lymphoma,urinary bladder urothelial carcinoma 2674680,8120410,16291983,18390968,20130576,20179705,23414587,23431193,19657110,25157968,18375819,26619011 ENST00000369535:c.37G>C 1 115258745 115258745 C G GRCh37 NRAS missense p.G13R melanoma,multiple myeloma,acute myeloid leukemia,skin melanoma,colorectal cancer,myelodysplastic syndrome,gastric adenocarcinoma,medulloblastoma,non-Hodgkin lymphoma,urinary bladder urothelial carcinoma 8120410,16291983,18390968,2674680,20130576,20179705,23414587,22962325,25157968,26619011 ENST00000369535:c.37G>T 1 115258745 115258745 C A GRCh37 NRAS missense p.G13C melanoma 2674680,8120410,16291983,18390968,20130576,20179705,23414587,25157968 ENST00000369535:c.37G>A 1 115258745 115258745 C T GRCh37 NRAS missense p.G13S stomach cancer 25157968 ENST00000369535:c.35G>C 1 115258747 115258747 C G GRCh37 NRAS missense p.G12A colorectal cancer,melanoma,non-small cell lung carcinoma,skin melanoma,acute myeloid leukemia,multiple myeloma,uterine corpus endometrial carcinoma,myelodysplastic syndrome,gastric adenocarcinoma 21305640,21729679,21829508,23414587,2674680,8120410,12460918,16273091,16291983,17699718,18390968,18948947,20130576,20179705,20619739,20736745,23515407,25157968,26619011 ENST00000369535:c.35G>T 1 115258747 115258747 C A GRCh37 NRAS missense p.G12V melanoma,colorectal cancer,acute myeloid leukemia,skin melanoma,multiple myeloma,uterine corpus endometrial carcinoma,myelodysplastic syndrome,gastric adenocarcinoma 18390968,20130576,20179705,20619739,20736745,21305640,21729679,21829508,23414587,2674680,8120410,16273091,16291983,17699718,19657110,25157968,26619011 ENST00000369535:c.35G>A 1 115258747 115258747 C T GRCh37 NRAS missense p.G12D melanoma,non-small cell lung carcinoma,colorectal cancer,acute myeloid leukemia,skin melanoma,multiple myeloma,uterine corpus endometrial carcinoma,myelodysplastic syndrome,gastric adenocarcinoma 2674680,8120410,12460918,16273091,16291983,17699718,18390968,18948947,20130576,20179705,20619739,20736745,21305640,21729679,21829508,23414587,23515407,22144181,22407852,25157968,2278970,3122217,16434492,19075190,19657110,26619011 ENST00000369535:c.34G>T 1 115258748 115258748 C A GRCh37 NRAS missense p.G12C acute myeloid leukemia,melanoma,non-small cell lung carcinoma,colorectal cancer,skin melanoma,multiple myeloma,uterine corpus endometrial carcinoma,myelodysplastic syndrome,gastric adenocarcinoma 16434492,19075190,19657110,22407852,2674680,8120410,12460918,16273091,16291983,17699718,18390968,18948947,20130576,20179705,20619739,20736745,21305640,21729679,21829508,23414587,23515407,2278970,3122217,23614898,25157968,26619011 ENST00000369535:c.34G>A 1 115258748 115258748 C T GRCh37 NRAS missense p.G12S acute myeloid leukemia,melanoma,non-small cell lung carcinoma,colorectal cancer,skin melanoma,multiple myeloma,uterine corpus endometrial carcinoma,myelodysplastic syndrome,gastric adenocarcinoma 19657110,2674680,8120410,12460918,16273091,16291983,17699718,18390968,18794081,20130576,20179705,20619739,20736745,21305640,21729679,21829508,23414587,25157968,26619011 ENST00000369535:c.34G>C 1 115258748 115258748 C G GRCh37 NRAS missense p.G12R melanoma,non-small cell lung carcinoma,chronic myeloid leukemia,colorectal cancer,skin melanoma,acute myeloid leukemia,multiple myeloma,uterine corpus endometrial carcinoma,myelodysplastic syndrome,gastric adenocarcinoma 2674680,8120410,12460918,16291983,18390968,18948947,20130576,20179705,23414587,23515407,23134356,25157968,26619011 ENST00000271450:c.500A>G 1 161479745 161479745 A G GRCh37 FCGR2A missense p.H167R breast cancer 24989892,22906996 ENST00000367969:c.634T>G 1 161514542 161514542 A C GRCh37 FCGR3A missense p.F212V breast cancer 22906996,24989892 ENST00000367921:c.187C>G 1 162724415 162724415 C G GRCh37 DDR2 missense p.L63V lung squamous cell carcinoma 22328973 ENST00000367922:c.187C>G 1 162724415 162724415 C G GRCh37 DDR2 missense p.L63V non-small cell lung carcinoma 22328973 ENST00000367921:c.716T>G 1 162729630 162729630 T G GRCh37 DDR2 missense p.L239R lung squamous cell carcinoma 22328973 ENST00000367921:c.757G>T 1 162729671 162729671 G T GRCh37 DDR2 missense p.G253C lung squamous cell carcinoma 22328973 ENST00000367922:c.757G>T 1 162729671 162729671 G T GRCh37 DDR2 missense p.G253C non-small cell lung carcinoma 22328973 ENST00000367921:c.1513G>A 1 162741822 162741822 G A GRCh37 DDR2 missense p.G505S lung squamous cell carcinoma 22328973 ENST00000367922:c.1513G>A 1 162741822 162741822 G A GRCh37 DDR2 missense p.G505S non-small cell lung carcinoma 22328973 ENST00000367921:c.1912A>T 1 162745497 162745497 A T GRCh37 DDR2 missense p.I638F lung squamous cell carcinoma 22328973 ENST00000367922:c.1912A>T 1 162745497 162745497 A T GRCh37 DDR2 missense p.I638F non-small cell lung carcinoma 22328973 ENST00000367921:c.2304T>A 1 162748390 162748390 T A GRCh37 DDR2 missense p.S768R squamous cell carcinoma 18938156,22328973,23932362 ENST00000367922:c.2304T>A 1 162748390 162748390 T A GRCh37 DDR2 missense p.S768R non-small cell lung carcinoma 22328973 ENST00000367921:c.2321G>T 1 162748407 162748407 G T GRCh37 DDR2 missense p.G774V lung squamous cell carcinoma 22328973 ENST00000367922:c.2321G>T 1 162748407 162748407 G T GRCh37 DDR2 missense p.G774V non-small cell lung carcinoma 22328973 ENST00000366814:c.83A>T 1 226252135 226252135 A T GRCh37 H3F3A missense p.K28M brain stem glioma,pilocytic astrocytoma 26619011 ENST00000366813:c.100G>C 1 226252152 226252152 G C GRCh37 H3F3A missense p.G34R brain stem glioma,brain glioma,glioblastoma multiforme,adrenocortical carcinoma 26619011 ENST00000281043:c.131C>T 2 16082317 16082317 C T GRCh37 MYCN missense p.P44L neuroblastoma,uterine corpus endometrial carcinoma,pancreas adenocarcinoma,medulloblastoma,glioblastoma multiforme 26619011 ENST00000264709:c.2645G>T 2 25457242 25457242 C A GRCh37 DNMT3A missense p.R882L acute myeloid leukemia 22160010,22898540 ENST00000264709:c.2645G>C 2 25457242 25457242 C G GRCh37 DNMT3A missense p.R882P acute myeloid leukemia,myelodysplastic syndrome,lung adenocarcinoma 21067377,22160010,22898541,26619011 ENST00000264709:c.2645G>A 2 25457242 25457242 C T GRCh37 DNMT3A missense p.R882H acute myeloid leukemia,myelodysplastic syndrome,lung adenocarcinoma 21067377,21518476,22160010,22744846,22898539,24606448,24656771,26619011 ENST00000264709:c.2644C>T 2 25457243 25457243 G A GRCh37 DNMT3A missense p.R882C acute myeloid leukemia,myelodysplastic syndrome,lung adenocarcinoma 21067377,21518476,22160010,22744846,22898539,24606448,26619011 ENST00000264709:c.2644C>G 2 25457243 25457243 G C GRCh37 DNMT3A missense p.R882G acute myeloid leukemia 22160010,22898539 ENST00000264709:c.2644C>A 2 25457243 25457243 G T GRCh37 DNMT3A missense p.R882S acute myeloid leukemia 21067377,21518476,22160010,22744846,22898540 ENST00000389048:c.3833A>C 2 29432655 29432655 T G GRCh37 ALK missense p.Y1278S neuroblastoma 21838707,22072639,18923523 ENST00000389048:c.3824G>A 2 29432664 29432664 C T GRCh37 ALK missense p.R1275Q neuroblastoma,brain cancer,breast cancer 21838707,22072639,26619011,18923523,21242967,26554404,23598171,18923525 ENST00000389048:c.3824G>T 2 29432664 29432664 C A GRCh37 ALK missense p.R1275L neuroblastoma,breast cancer 26619011 ENST00000389048:c.3806G>C 2 29432682 29432682 C G GRCh37 ALK missense p.G1269A lung adenocarcinoma,non-small cell lung carcinoma 22277784,24670165,22235099,23344087 ENST00000389048:c.3749T>C 2 29432739 29432739 A G GRCh37 ALK missense p.I1250T neuroblastoma 18724359 ENST00000389048:c.3735C>G 2 29436858 29436858 G C GRCh37 ALK missense p.F1245L neuroblastoma 21838707,22072639 ENST00000389048:c.3734T>G 2 29436859 29436859 A C GRCh37 ALK missense p.F1245C neuroblastoma 21838707,22072639 ENST00000389048:c.3733T>G 2 29436860 29436860 A C GRCh37 ALK missense p.F1245V neuroblastoma 21838707,22072639 ENST00000389048:c.3733T>C 2 29436860 29436860 A G GRCh37 ALK missense p.F1245L neuroblastoma 18990089 ENST00000389048:c.3733T>A 2 29436860 29436860 A T GRCh37 ALK missense p.F1245I neuroblastoma 18990089 ENST00000389048:c.3673G>A 2 29436920 29436920 C T GRCh37 ALK missense p.D1225N rhabdomyosarcoma 22184391 ENST00000389048:c.3617C>A 2 29443600 29443600 G T GRCh37 ALK missense p.S1206Y lung adenocarcinoma,non-small cell lung carcinoma 22277784,24670165 ENST00000389048:c.3604G>A 2 29443613 29443613 C T GRCh37 ALK missense p.G1202R non-small cell lung carcinoma,lung adenocarcinoma 22277784 ENST00000389048:c.3586C>A 2 29443631 29443631 G T GRCh37 ALK missense p.L1196M lung adenocarcinoma,non-small cell lung carcinoma 22277784,24670165,24327273,20979473,21575866 ENST00000389048:c.3575G>C 2 29443642 29443642 C G GRCh37 ALK missense p.R1192P brain cancer,neuroblastoma 22072639,18724359 ENST00000389048:c.3538G>C 2 29443679 29443679 C G GRCh37 ALK missense p.V1180L non-small cell lung carcinoma 25228534 ENST00000389048:c.3522C>A 2 29443695 29443695 G T GRCh37 ALK missense p.F1174L neuroblastoma,lung adenocarcinoma,non-small cell lung carcinoma,inflammatory myofibroblastic tumor 21838707,22277784,24327273,21948233,21575866,21030459,23598171,18923525,22072639 ENST00000389048:c.3522C>G 2 29443695 29443695 G C GRCh37 ALK missense p.F1174L lung adenocarcinoma,neuroblastoma 22277784,24327273,26619011 ENST00000389048:c.3521T>G 2 29443696 29443696 A C GRCh37 ALK missense p.F1174C neuroblastoma 21838707,22072639,26619011,18923523 ENST00000389048:c.3520T>G 2 29443697 29443697 A C GRCh37 ALK missense p.F1174V neuroblastoma 21838707,22072639,26619011,18923523 ENST00000389048:c.3520T>A 2 29443697 29443697 A T GRCh37 ALK missense p.F1174I neuroblastoma 21838707,22072639,18990089 ENST00000389048:c.3520T>C 2 29443697 29443697 A G GRCh37 ALK missense p.F1174L neuroblastoma 18923523,2124297 ENST00000389048:c.3512T>A 2 29445213 29445213 A T GRCh37 ALK missense p.I1171N neuroblastoma 21838707,22072639,18724359 ENST00000389048:c.3512T>C 2 29445213 29445213 A G GRCh37 ALK missense p.I1171T non-small cell lung carcinoma 25228534 ENST00000389048:c.3497T>G 2 29445228 29445228 A C GRCh37 ALK missense p.M1166R neuroblastoma 18724359 ENST00000389048:c.3467G>A 2 29445258 29445258 C T GRCh37 ALK missense p.C1156Y non-small cell lung carcinoma 20979473,26698910,24675041 ENST00000389048:c.3455T>G 2 29445270 29445270 A C GRCh37 ALK missense p.L1152R lung adenocarcinoma,non-small cell lung carcinoma 22277784,21791641 ENST00000389048:c.3452C>T 2 29445273 29445273 G A GRCh37 ALK missense p.T1151M neuroblastoma 21838707,22072639 ENST00000389048:c.3383G>C 2 29445450 29445450 C G GRCh37 ALK missense p.G1128A brain cancer,neuroblastoma 22072639,18724359 ENST00000389048:c.3271G>A 2 29446296 29446296 C T GRCh37 ALK missense p.D1091N neuroblastoma 21838707,22072639 ENST00000402219:c.697A>T 2 39281778 39281778 T A GRCh37 SOS1 missense p.N233Y lung adenocarcinoma,uterine corpus endometrial carcinoma 26619011 ENST00000401558:c.1712A>T 2 61719471 61719471 T A GRCh37 XPO1 missense p.E571V chronic lymphocytic leukemia,uterine corpus endometrial carcinoma,colorectal cancer,breast cancer,prostate adenocarcinoma 26619011 ENST00000401558:c.1712A>C 2 61719471 61719471 T G GRCh37 XPO1 missense p.E571A chronic lymphocytic leukemia,uterine corpus endometrial carcinoma,colorectal cancer,breast cancer,prostate adenocarcinoma 26619011 ENST00000401558:c.1711G>A 2 61719472 61719472 C T GRCh37 XPO1 missense p.E571K chronic lymphocytic leukemia,uterine corpus endometrial carcinoma,colorectal cancer,breast cancer,prostate adenocarcinoma 26619011 ENST00000263640:c.983G>A 2 158622516 158622516 C T GRCh37 ACVR1 missense p.G328E brain stem glioma 26619011 ENST00000263640:c.983G>T 2 158622516 158622516 C A GRCh37 ACVR1 missense p.G328V brain stem glioma 26619011 ENST00000263640:c.773G>T 2 158626897 158626897 C A GRCh37 ACVR1 missense p.R258M brain stem glioma,gastric adenocarcinoma 26619011 ENST00000263640:c.772A>G 2 158626898 158626898 T C GRCh37 ACVR1 missense p.R258G brain stem glioma,gastric adenocarcinoma 26619011 ENST00000397062:c.237G>T 2 178098808 178098808 C A GRCh37 NFE2L2 missense p.E79D head and neck squamous cell carcinoma,lung squamous cell carcinoma,urinary bladder urothelial carcinoma,lung adenocarcinoma,hepatocellular carcinoma,cervix carcinoma 26619011 ENST00000397062:c.236A>T 2 178098809 178098809 T A GRCh37 NFE2L2 missense p.E79V head and neck squamous cell carcinoma,lung squamous cell carcinoma,urinary bladder urothelial carcinoma,lung adenocarcinoma,hepatocellular carcinoma,cervix carcinoma 26619011 ENST00000397062:c.235G>C 2 178098810 178098810 C G GRCh37 NFE2L2 missense p.E79Q head and neck squamous cell carcinoma,lung squamous cell carcinoma,urinary bladder urothelial carcinoma,lung adenocarcinoma,hepatocellular carcinoma,cervix carcinoma 26619011 ENST00000397062:c.235G>A 2 178098810 178098810 C T GRCh37 NFE2L2 missense p.E79K head and neck squamous cell carcinoma,lung squamous cell carcinoma,urinary bladder urothelial carcinoma,lung adenocarcinoma,hepatocellular carcinoma,cervix carcinoma 26619011 ENST00000397062:c.86A>G 2 178098959 178098959 T C GRCh37 NFE2L2 missense p.D29G head and neck squamous cell carcinoma,lung squamous cell carcinoma,cervix carcinoma,lung adenocarcinoma,uterine corpus endometrial carcinoma,renal clear cell carcinoma,urinary bladder urothelial carcinoma 26619011 ENST00000397062:c.85G>C 2 178098960 178098960 C G GRCh37 NFE2L2 missense p.D29H head and neck squamous cell carcinoma,lung squamous cell carcinoma,cervix carcinoma,lung adenocarcinoma,uterine corpus endometrial carcinoma,renal clear cell carcinoma,urinary bladder urothelial carcinoma 26619011 ENST00000397062:c.85G>T 2 178098960 178098960 C A GRCh37 NFE2L2 missense p.D29Y head and neck squamous cell carcinoma,lung squamous cell carcinoma,cervix carcinoma,lung adenocarcinoma,uterine corpus endometrial carcinoma,renal clear cell carcinoma,urinary bladder urothelial carcinoma 26619011 ENST00000397062:c.85G>A 2 178098960 178098960 C T GRCh37 NFE2L2 missense p.D29N head and neck squamous cell carcinoma,lung squamous cell carcinoma,cervix carcinoma,lung adenocarcinoma,uterine corpus endometrial carcinoma,renal clear cell carcinoma,urinary bladder urothelial carcinoma 26619011 ENST00000335508:c.2225G>A 2 198266611 198266611 C T GRCh37 SF3B1 missense p.G742D chronic lymphocytic leukemia,renal clear cell carcinoma 26619011 ENST00000335508:c.2100A>T 2 198266832 198266832 T A GRCh37 SF3B1 missense p.K700N acute myeloid leukemia 23395771 ENST00000335508:c.2100A>C 2 198266832 198266832 T G GRCh37 SF3B1 missense p.K700N acute myeloid leukemia 23395771 ENST00000335508:c.2099A>T 2 198266833 198266833 T A GRCh37 SF3B1 missense p.K700I acute myeloid leukemia 23395771 ENST00000335508:c.2099A>G 2 198266833 198266833 T C GRCh37 SF3B1 missense p.K700R acute myeloid leukemia 23395771 ENST00000335508:c.2099A>C 2 198266833 198266833 T G GRCh37 SF3B1 missense p.K700T acute myeloid leukemia 23395771 ENST00000335508:c.2098A>G 2 198266834 198266834 T C GRCh37 SF3B1 missense p.K700E acute myeloid leukemia 23395771 ENST00000335508:c.2098A>T 2 198266834 198266834 T A GRCh37 SF3B1 stop_lost p.K700* acute myeloid leukemia 23395771 ENST00000335508:c.2098A>C 2 198266834 198266834 T G GRCh37 SF3B1 missense p.K700Q acute myeloid leukemia 23395771 ENST00000335508:c.1998G>T 2 198267359 198267359 C A GRCh37 SF3B1 missense p.K666N acute myeloid leukemia,myelodysplastic syndrome 23395771,21995386 ENST00000335508:c.1998G>C 2 198267359 198267359 C G GRCh37 SF3B1 missense p.K666N acute myeloid leukemia 23395771 ENST00000335508:c.1997A>G 2 198267360 198267360 T C GRCh37 SF3B1 missense p.K666R acute myeloid leukemia 23634996 ENST00000335508:c.1997A>C 2 198267360 198267360 T G GRCh37 SF3B1 missense p.K666T acute myeloid leukemia 23634996 ENST00000335508:c.1996A>G 2 198267361 198267361 T C GRCh37 SF3B1 missense p.K666E acute myeloid leukemia,chronic lymphocytic leukemia,skin melanoma,hepatocellular carcinoma,breast cancer 23634996,26619011 ENST00000335508:c.1996A>C 2 198267361 198267361 T G GRCh37 SF3B1 missense p.K666Q chronic lymphocytic leukemia,skin melanoma,hepatocellular carcinoma,breast cancer 26619011 ENST00000335508:c.1874G>A 2 198267483 198267483 C T GRCh37 SF3B1 missense p.R625H skin melanoma,chronic lymphocytic leukemia,salivary gland adenoid cystic carcinoma,urinary bladder urothelial carcinoma 26619011 ENST00000335508:c.1873C>T 2 198267484 198267484 G A GRCh37 SF3B1 missense p.R625C skin melanoma,chronic lymphocytic leukemia,salivary gland adenoid cystic carcinoma,urinary bladder urothelial carcinoma 26619011 ENST00000335508:c.1873C>G 2 198267484 198267484 G C GRCh37 SF3B1 missense p.R625G skin melanoma,chronic lymphocytic leukemia,salivary gland adenoid cystic carcinoma,urinary bladder urothelial carcinoma 26619011 ENST00000345146:c.395G>T 2 209113112 209113112 C A GRCh37 IDH1 missense p.R132L acute myeloid leukemia,brain glioma,glioblastoma multiforme,skin melanoma,prostate adenocarcinoma,hepatocellular carcinoma,multiple myeloma,colorectal cancer,lung adenocarcinoma,brain stem glioma,myelodysplastic syndrome,medulloblastoma,breast cancer,urinary bladder urothelial carcinoma,salivary gland adenoid cystic carcinoma 22160010,22397365,22417203,22898539,26619011 ENST00000345146:c.395G>C 2 209113112 209113112 C G GRCh37 IDH1 missense p.R132P acute myeloid leukemia 22160010,22417203,22898539 ENST00000345146:c.395G>A 2 209113112 209113112 C T GRCh37 IDH1 missense p.R132H acute myeloid leukemia,astrocytoma,brain cancer,brain glioma,glioblastoma multiforme,skin melanoma,prostate adenocarcinoma,hepatocellular carcinoma,multiple myeloma,colorectal cancer,lung adenocarcinoma,brain stem glioma,myelodysplastic syndrome,medulloblastoma,breast cancer,urinary bladder urothelial carcinoma,salivary gland adenoid cystic carcinoma 19657110,22160010,22397365,22417203,22898539,24606448,19798509,19818334,23558169,25157968,26619011 ENST00000415913:c.395G>A 2 209113112 209113112 C T GRCh37 IDH1 missense p.R132H oligodendroglioma 23558169 ENST00000345146:c.394C>T 2 209113113 209113113 G A GRCh37 IDH1 missense p.R132C acute myeloid leukemia,astrocytoma,brain glioma,glioblastoma multiforme,skin melanoma,prostate adenocarcinoma,hepatocellular carcinoma,multiple myeloma,colorectal cancer,lung adenocarcinoma,brain stem glioma,myelodysplastic syndrome,medulloblastoma,breast cancer,urinary bladder urothelial carcinoma,salivary gland adenoid cystic carcinoma 19657110,20946881,22160010,22397365,22417203,22898539,25157968,26619011 ENST00000345146:c.394C>G 2 209113113 209113113 G C GRCh37 IDH1 missense p.R132G acute myeloid leukemia,brain glioma,glioblastoma multiforme,skin melanoma,prostate adenocarcinoma,hepatocellular carcinoma,multiple myeloma,colorectal cancer,lung adenocarcinoma,brain stem glioma,myelodysplastic syndrome,medulloblastoma,breast cancer,urinary bladder urothelial carcinoma,salivary gland adenoid cystic carcinoma 20946881,22160010,22397365,22417203,22898539,26619011 ENST00000345146:c.394C>A 2 209113113 209113113 G T GRCh37 IDH1 missense p.R132S acute myeloid leukemia,astrocytoma,brain glioma,glioblastoma multiforme,skin melanoma,prostate adenocarcinoma,hepatocellular carcinoma,multiple myeloma,colorectal cancer,lung adenocarcinoma,brain stem glioma,myelodysplastic syndrome,medulloblastoma,breast cancer,urinary bladder urothelial carcinoma,salivary gland adenoid cystic carcinoma 19657110,22160010,22417203,22898539,21352804,25157968,26619011 ENST00000415913:c.394C>T 2 209113113 209113113 G A GRCh37 IDH1 missense p.R132C acute myeloid leukemia 26436839,20538800 ENST00000342788:c.2614G>A 2 212295699 212295699 C T GRCh37 ERBB4 missense p.E872K melanoma 19718025 ENST00000342788:c.1630C>T 2 212537975 212537975 G A GRCh37 ERBB4 missense p.R544W melanoma 19718025 ENST00000342788:c.1624G>A 2 212537981 212537981 C T GRCh37 ERBB4 missense p.E542K melanoma 19718025 ENST00000342788:c.1354G>A 2 212566827 212566827 C T GRCh37 ERBB4 missense p.E452K melanoma 19718025 ENST00000342788:c.1177C>T 2 212570064 212570064 G A GRCh37 ERBB4 missense p.R393W melanoma 19718025 ENST00000342788:c.949G>A 2 212578308 212578308 C T GRCh37 ERBB4 missense p.E317K melanoma 19718025 ENST00000273064:c.259T>C 2 219447748 219447748 T C GRCh37 RQCD1 missense p.S87P skin melanoma,gastric adenocarcinoma,prostate adenocarcinoma,hepatocellular carcinoma,urinary bladder urothelial carcinoma 26619011 ENST00000273064:c.260C>G 2 219447749 219447749 C G GRCh37 RQCD1 missense p.S87C skin melanoma,gastric adenocarcinoma,prostate adenocarcinoma,hepatocellular carcinoma,urinary bladder urothelial carcinoma 26619011 ENST00000273064:c.391C>T 2 219449405 219449405 C T GRCh37 RQCD1 missense p.P131S skin melanoma 26619011 ENST00000273064:c.392C>T 2 219449406 219449406 C T GRCh37 RQCD1 missense p.P131L skin melanoma 26619011 ENST00000256474:c.241C>T 3 10183772 10183772 C T GRCh37 VHL missense p.P81S cancer 25157968 ENST00000256474:c.254T>C 3 10183785 10183785 T C GRCh37 VHL missense p.L85P cancer 25157968 ENST00000256474:c.266T>A 3 10183797 10183797 T A GRCh37 VHL missense p.L89H renal clear cell carcinoma 11921283,25157968 ENST00000256474:c.473T>A 3 10191480 10191480 T A GRCh37 VHL missense p.L158Q renal clear cell carcinoma 11921283,25157968 ENST00000256474:c.481C>T 3 10191488 10191488 C T GRCh37 VHL stop_lost p.R161* renal clear cell carcinoma 25157968 ENST00000256474:c.499C>T 3 10191506 10191506 C T GRCh37 VHL missense p.R167W renal clear cell carcinoma 7660122,25157968 ENST00000251849:c.1837C>G 3 12626123 12626123 G C GRCh37 RAF1 missense p.L613V Noonan syndrome 17603482,17603489 ENST00000251849:c.1472C>T 3 12627244 12627244 G A GRCh37 RAF1 missense p.T491I Noonan syndrome 17603482,17603489 ENST00000442415:c.1163G>C 3 12641195 12641195 C G GRCh37 RAF1 missense p.W388S melanoma 23737487 ENST00000251849:c.788T>C 3 12645681 12645681 A G GRCh37 RAF1 missense p.V263A Noonan syndrome 17603482,17603488 ENST00000442415:c.782C>T 3 12645687 12645687 G A GRCh37 RAF1 missense p.P261L Noonan syndrome 17603482,17603485 ENST00000442415:c.781C>T 3 12645688 12645688 G A GRCh37 RAF1 missense p.P261S Noonan syndrome 17603482,17603487 ENST00000442415:c.781C>G 3 12645688 12645688 G C GRCh37 RAF1 missense p.P261A Noonan syndrome 17603482,17603486 ENST00000442415:c.776C>T 3 12645693 12645693 G A GRCh37 RAF1 missense p.S259F Noonan syndrome 17603482,17603484 ENST00000251849:c.770C>T 3 12645699 12645699 G A GRCh37 RAF1 missense p.S257L colorectal cancer,lung adenocarcinoma,gastric adenocarcinoma,skin melanoma,Noonan syndrome 26619011,17603482,1760348 ENST00000251849:c.770C>G 3 12645699 12645699 G C GRCh37 RAF1 missense p.S257W colorectal cancer,lung adenocarcinoma,gastric adenocarcinoma,skin melanoma 26619011 ENST00000442415:c.769T>C 3 12645700 12645700 A G GRCh37 RAF1 missense p.S257P melanoma 23737487 ENST00000231790:c.1151T>A 3 37067240 37067240 T A GRCh37 MLH1 missense p.V384D lung adenocarcinoma,gastric adenocarcinoma 25823662,25157968 ENST00000417037:c.818T>C 3 38182641 38182641 T C GRCh37 MYD88 missense p.L273P lymphoma,chronic lymphocytic leukemia,non-Hodgkin lymphoma,multiple myeloma 21179087,26619011 ENST00000396334:c.794T>C 3 38182641 38182641 T C GRCh37 MYD88 missense p.L265P chronic lymphocytic leukemia,non-Hodgkin lymphoma,multiple myeloma 26619011 ENST00000349496:c.37G>A 3 41266040 41266040 G A GRCh37 CTNNB1 missense p.A13T melanoma 25157968 ENST00000349496:c.61G>A 3 41266064 41266064 G A GRCh37 CTNNB1 missense p.A21T melanoma 25157968 ENST00000349496:c.64delGTTAGTCACTGGCAGCAACAGTCTTACCTGGACTCTGGAATCCATTCTGGT 3 41266067 41266117 GTTAGTCACTGGCAGCAACAGTCTTACCTGGACTCTGGAATCCATTCTGGT - GRCh37 CTNNB1 inframe p.VSHWQQQSYLDSGIHSG22- melanoma 25157968 ENST00000349496:c.65T>C 3 41266068 41266068 T C GRCh37 CTNNB1 missense p.V22A melanoma 25157968 ENST00000349496:c.73delTGGCAGCAACAGTCTTACCTGGAC 3 41266076 41266099 TGGCAGCAACAGTCTTACCTGGAC - GRCh37 CTNNB1 inframe p.WQQQSYLD25- melanoma 25157968 ENST00000349496:c.94G>C 3 41266097 41266097 G C GRCh37 CTNNB1 missense p.D32H melanoma,hepatocellular carcinoma,uterine corpus endometrial carcinoma,medulloblastoma,prostate adenocarcinoma,skin melanoma,cervix carcinoma,gastric adenocarcinoma,urinary bladder urothelial carcinoma 19234609,25157968,26619011 ENST00000349496:c.94G>A 3 41266097 41266097 G A GRCh37 CTNNB1 missense p.D32N esophagus squamous cell carcinoma,endometrial carcinoma,hepatocellular carcinoma,uterine corpus endometrial carcinoma,medulloblastoma,prostate adenocarcinoma,skin melanoma,cervix carcinoma,gastric adenocarcinoma,urinary bladder urothelial carcinoma 25157968,26619011 ENST00000349496:c.94G>T 3 41266097 41266097 G T GRCh37 CTNNB1 missense p.D32Y medulloblastoma,craniopharyngioma,hepatocellular carcinoma,uterine corpus endometrial carcinoma,prostate adenocarcinoma,skin melanoma,cervix carcinoma,gastric adenocarcinoma,urinary bladder urothelial carcinoma 25157968,26619011 ENST00000349496:c.95A>C 3 41266098 41266098 A C GRCh37 CTNNB1 missense p.D32A melanoma,hepatocellular carcinoma,uterine corpus endometrial carcinoma,medulloblastoma,prostate adenocarcinoma,skin melanoma,cervix carcinoma,gastric adenocarcinoma,urinary bladder urothelial carcinoma 25157968,26619011 ENST00000349496:c.95A>G 3 41266098 41266098 A G GRCh37 CTNNB1 missense p.D32G melanoma,hepatocellular carcinoma,uterine corpus endometrial carcinoma,medulloblastoma,prostate adenocarcinoma,skin melanoma,cervix carcinoma,gastric adenocarcinoma,urinary bladder urothelial carcinoma 25157968,26619011 ENST00000349496:c.95A>T 3 41266098 41266098 A T GRCh37 CTNNB1 missense p.D32V endometrial carcinoma,hepatocellular carcinoma,uterine corpus endometrial carcinoma,medulloblastoma,prostate adenocarcinoma,skin melanoma,cervix carcinoma,gastric adenocarcinoma,urinary bladder urothelial carcinoma 25157968,26619011 ENST00000349496:c.97T>C 3 41266100 41266100 T C GRCh37 CTNNB1 missense p.S33P hepatocellular carcinoma,uterine corpus endometrial carcinoma,medulloblastoma,lung adenocarcinoma,gastric adenocarcinoma,skin melanoma,prostate adenocarcinoma,pancreas adenocarcinoma,esophageal carcinoma,colorectal cancer,urinary bladder urothelial carcinoma 26619011 ENST00000349496:c.97T>G 3 41266100 41266100 T G GRCh37 CTNNB1 missense p.S33A hepatocellular carcinoma,uterine corpus endometrial carcinoma,medulloblastoma,lung adenocarcinoma,gastric adenocarcinoma,skin melanoma,prostate adenocarcinoma,pancreas adenocarcinoma,esophageal carcinoma,colorectal cancer,urinary bladder urothelial carcinoma 26619011 ENST00000349496:c.97T>A 3 41266100 41266100 T A GRCh37 CTNNB1 missense p.S33T hepatocellular carcinoma,uterine corpus endometrial carcinoma,medulloblastoma,lung adenocarcinoma,gastric adenocarcinoma,skin melanoma,prostate adenocarcinoma,pancreas adenocarcinoma,esophageal carcinoma,colorectal cancer,urinary bladder urothelial carcinoma 26619011 ENST00000349496:c.98C>A 3 41266101 41266101 C A GRCh37 CTNNB1 missense p.S33Y medulloblastoma,endometrial carcinoma,hepatocellular carcinoma,uterine corpus endometrial carcinoma,lung adenocarcinoma,gastric adenocarcinoma,skin melanoma,prostate adenocarcinoma,pancreas adenocarcinoma,esophageal carcinoma,colorectal cancer,urinary bladder urothelial carcinoma 25157968,26619011 ENST00000349496:c.98C>G 3 41266101 41266101 C G GRCh37 CTNNB1 missense p.S33C ovarian cancer,brain cancer,parathyroid carcinoma,hepatocellular carcinoma,uterine corpus endometrial carcinoma,medulloblastoma,lung adenocarcinoma,gastric adenocarcinoma,skin melanoma,prostate adenocarcinoma,pancreas adenocarcinoma,esophageal carcinoma,colorectal cancer,urinary bladder urothelial carcinoma 25157968,26619011 ENST00000349496:c.98C>T 3 41266101 41266101 C T GRCh37 CTNNB1 missense p.S33F hepatocellular carcinoma,uterine corpus endometrial carcinoma,medulloblastoma,lung adenocarcinoma,gastric adenocarcinoma,skin melanoma,prostate adenocarcinoma,pancreas adenocarcinoma,esophageal carcinoma,colorectal cancer,urinary bladder urothelial carcinoma 26619011 ENST00000349496:c.100G>A 3 41266103 41266103 G A GRCh37 CTNNB1 missense p.G34R craniopharyngioma,pilomatrixoma 25157968 ENST00000349496:c.100G>C 3 41266103 41266103 G C GRCh37 CTNNB1 missense p.G34R craniopharyngioma,pilomatrixoma,uterine corpus endometrial carcinoma,hepatocellular carcinoma,medulloblastoma,lung adenocarcinoma,adrenocortical carcinoma,gastric adenocarcinoma,skin melanoma,head and neck squamous cell carcinoma 25157968,26619011 ENST00000349496:c.101G>A 3 41266104 41266104 G A GRCh37 CTNNB1 missense p.G34E hepatocellular carcinoma,ovarian cancer,uterine corpus endometrial carcinoma,medulloblastoma,lung adenocarcinoma,adrenocortical carcinoma,gastric adenocarcinoma,skin melanoma,head and neck squamous cell carcinoma 25157968,26619011 ENST00000349496:c.101G>T 3 41266104 41266104 G T GRCh37 CTNNB1 missense p.G34V melanoma,craniopharyngioma,uterine corpus endometrial carcinoma,hepatocellular carcinoma,medulloblastoma,lung adenocarcinoma,adrenocortical carcinoma,gastric adenocarcinoma,skin melanoma,head and neck squamous cell carcinoma 25157968,26619011 ENST00000349496:c.101G>C 3 41266104 41266104 G C GRCh37 CTNNB1 missense p.G34A uterine corpus endometrial carcinoma,hepatocellular carcinoma,medulloblastoma,lung adenocarcinoma,adrenocortical carcinoma,gastric adenocarcinoma,skin melanoma,head and neck squamous cell carcinoma 26619011 ENST00000349496:c.109T>C 3 41266112 41266112 T C GRCh37 CTNNB1 missense p.S37P stomach cancer,uterine corpus endometrial carcinoma,hepatocellular carcinoma,lung adenocarcinoma,gastric adenocarcinoma,medulloblastoma,esophageal carcinoma,urinary bladder urothelial carcinoma,prostate adenocarcinoma,cervix carcinoma 25157968,26619011 ENST00000349496:c.109T>G 3 41266112 41266112 T G GRCh37 CTNNB1 missense p.S37A parathyroid carcinoma,uterine corpus endometrial carcinoma,hepatocellular carcinoma,lung adenocarcinoma,gastric adenocarcinoma,medulloblastoma,esophageal carcinoma,urinary bladder urothelial carcinoma,prostate adenocarcinoma,cervix carcinoma 25157968,26619011 ENST00000349496:c.110C>A 3 41266113 41266113 C A GRCh37 CTNNB1 missense p.S37Y melanoma,stomach cancer,uterine corpus endometrial carcinoma,hepatocellular carcinoma,lung adenocarcinoma,gastric adenocarcinoma,medulloblastoma,esophageal carcinoma,urinary bladder urothelial carcinoma,prostate adenocarcinoma,cervix carcinoma 9065403,10027390,11351304,11930117,11950921,12124804,15133491,25157968,26619011 ENST00000349496:c.110C>T 3 41266113 41266113 C T GRCh37 CTNNB1 missense p.S37F melanoma,ovarian cancer,uterine corpus endometrial carcinoma,hepatocellular carcinoma,lung adenocarcinoma,gastric adenocarcinoma,medulloblastoma,esophageal carcinoma,urinary bladder urothelial carcinoma,prostate adenocarcinoma,cervix carcinoma 9065403,10027390,11351304,11930117,11950921,12124804,15133491,25157968,26619011 ENST00000349496:c.110C>G 3 41266113 41266113 C G GRCh37 CTNNB1 missense p.S37C ovarian cancer,lung adenocarcinoma,uterine corpus endometrial carcinoma,hepatocellular carcinoma,gastric adenocarcinoma,medulloblastoma,esophageal carcinoma,urinary bladder urothelial carcinoma,prostate adenocarcinoma,cervix carcinoma 25157968,26619011 ENST00000349496:c.118A>G 3 41266121 41266121 A G GRCh37 CTNNB1 missense p.T40A stomach cancer 25157968 ENST00000349496:c.118A>T 3 41266121 41266121 A T GRCh37 CTNNB1 missense p.T40S cancer 25157968 ENST00000349496:c.118A>C 3 41266121 41266121 A C GRCh37 CTNNB1 missense p.T40P cancer 25157968 ENST00000349496:c.119C>G 3 41266122 41266122 C G GRCh37 CTNNB1 missense p.T40S cancer 25157968 ENST00000349496:c.119C>T 3 41266122 41266122 C T GRCh37 CTNNB1 missense p.T40I melanoma 25157968 ENST00000349496:c.121A>G 3 41266124 41266124 A G GRCh37 CTNNB1 missense p.T41A hepatocellular carcinoma,colorectal cancer,uterine corpus endometrial carcinoma,skin melanoma,prostate adenocarcinoma,pancreas adenocarcinoma,lung adenocarcinoma,adrenocortical carcinoma 26619011 ENST00000349496:c.122C>T 3 41266125 41266125 C T GRCh37 CTNNB1 missense p.T41I hepatocellular carcinoma,colorectal cancer,uterine corpus endometrial carcinoma,skin melanoma,prostate adenocarcinoma,pancreas adenocarcinoma,lung adenocarcinoma,adrenocortical carcinoma 26619011 ENST00000349496:c.122C>A 3 41266125 41266125 C A GRCh37 CTNNB1 missense p.T41N hepatocellular carcinoma,colorectal cancer,uterine corpus endometrial carcinoma,skin melanoma,prostate adenocarcinoma,pancreas adenocarcinoma,lung adenocarcinoma,adrenocortical carcinoma 26619011 ENST00000349496:c.133T>C 3 41266136 41266136 T C GRCh37 CTNNB1 missense p.S45P melanoma,adrenal cortical adenoma,hepatocellular carcinoma,adrenocortical carcinoma,skin melanoma,uterine corpus endometrial carcinoma,colorectal cancer,prostate adenocarcinoma,lung adenocarcinoma,urinary bladder urothelial carcinoma 9065403,10027390,11351304,11930117,11950921,12124804,15133491,24788118,25157968,26619011 ENST00000349496:c.133T>G 3 41266136 41266136 T G GRCh37 CTNNB1 missense p.S45A brain cancer,adrenal cortical adenoma 25157968 ENST00000349496:c.134C>A 3 41266137 41266137 C A GRCh37 CTNNB1 missense p.S45Y melanoma,hepatocellular carcinoma,adrenocortical carcinoma,skin melanoma,uterine corpus endometrial carcinoma,colorectal cancer,prostate adenocarcinoma,lung adenocarcinoma,urinary bladder urothelial carcinoma 9065403,10027390,11351304,11930117,11950921,12124804,15133491,25157968,26619011 ENST00000349496:c.134C>T 3 41266137 41266137 C T GRCh37 CTNNB1 missense p.S45F melanoma,adrenal cortical adenoma,hepatocellular carcinoma,adrenocortical carcinoma,skin melanoma,uterine corpus endometrial carcinoma,colorectal cancer,prostate adenocarcinoma,lung adenocarcinoma,urinary bladder urothelial carcinoma 9065403,10027390,11351304,11930117,11950921,12124804,15133491,24788118,25157968,26619011 ENST00000349496:c.134C>G 3 41266137 41266137 C G GRCh37 CTNNB1 missense p.S45C adrenal cortical adenoma,hepatocellular carcinoma,adrenocortical carcinoma,skin melanoma,uterine corpus endometrial carcinoma,colorectal cancer,prostate adenocarcinoma,lung adenocarcinoma,urinary bladder urothelial carcinoma 25157968,26619011 ENST00000431929:c.125A>G 3 49412898 49412898 T C GRCh37 RHOA missense p.Y42C gastric adenocarcinoma,non-Hodgkin lymphoma,head and neck squamous cell carcinoma 26619011 ENST00000422781:c.125A>C 3 49412898 49412898 T G GRCh37 RHOA missense p.Y42S gastric adenocarcinoma,non-Hodgkin lymphoma,head and neck squamous cell carcinoma 26619011 ENST00000431929:c.125A>T 3 49412898 49412898 T A GRCh37 RHOA missense p.Y42F gastric adenocarcinoma,non-Hodgkin lymphoma,head and neck squamous cell carcinoma 26619011 ENST00000431929:c.118G>C 3 49412905 49412905 C G GRCh37 RHOA missense p.E40Q head and neck squamous cell carcinoma,gastric adenocarcinoma,lung adenocarcinoma,breast cancer 26619011 ENST00000418115:c.118G>A 3 49412905 49412905 C T GRCh37 RHOA missense p.E40K head and neck squamous cell carcinoma,gastric adenocarcinoma,lung adenocarcinoma,breast cancer 26619011 ENST00000431929:c.14G>A 3 49413009 49413009 C T GRCh37 RHOA missense p.R5Q non-Hodgkin lymphoma,gastric adenocarcinoma,esophageal carcinoma,breast cancer,colorectal cancer 26619011 ENST00000431929:c.14G>T 3 49413009 49413009 C A GRCh37 RHOA missense p.R5L non-Hodgkin lymphoma,gastric adenocarcinoma,esophageal carcinoma,breast cancer,colorectal cancer 26619011 ENST00000431929:c.13C>T 3 49413010 49413010 G A GRCh37 RHOA missense p.R5W non-Hodgkin lymphoma,gastric adenocarcinoma,esophageal carcinoma,breast cancer,colorectal cancer 26619011 ENST00000341105:c.1192C>T 3 128200113 128200113 G A GRCh37 GATA2 missense p.R398W acute myeloid leukemia 21765025,22147895 ENST00000341105:c.1061C>T 3 128200744 128200744 G A GRCh37 GATA2 missense p.T354M acute myeloid leukemia 21765025,22147895 ENST00000330315:c.402C>G 3 138665163 138665163 G C GRCh37 FOXL2 missense p.C134W granulosa cell tumor 20693978 ENST00000350721:c.2320delT 3 142274740 142274740 A - GRCh37 ATR frameshift p.I774X endometrial cancer 19470935 ENST00000263967:c.112C>T 3 178916725 178916725 C T GRCh37 PIK3CA missense p.R38C uterine corpus endometrial carcinoma,gastric adenocarcinoma,glioblastoma multiforme,colorectal cancer,lung squamous cell carcinoma,cervix carcinoma 26619011 ENST00000263967:c.112C>A 3 178916725 178916725 C A GRCh37 PIK3CA missense p.R38S uterine corpus endometrial carcinoma,gastric adenocarcinoma,glioblastoma multiforme,colorectal cancer,lung squamous cell carcinoma,cervix carcinoma 26619011 ENST00000263967:c.112C>G 3 178916725 178916725 C G GRCh37 PIK3CA missense p.R38G uterine corpus endometrial carcinoma,gastric adenocarcinoma,glioblastoma multiforme,colorectal cancer,lung squamous cell carcinoma,cervix carcinoma 26619011 ENST00000263967:c.113G>A 3 178916726 178916726 G A GRCh37 PIK3CA missense p.R38H uterine corpus endometrial carcinoma,gastric adenocarcinoma,glioblastoma multiforme,colorectal cancer,lung squamous cell carcinoma,cervix carcinoma 26619011 ENST00000263967:c.113G>T 3 178916726 178916726 G T GRCh37 PIK3CA missense p.R38L uterine corpus endometrial carcinoma,gastric adenocarcinoma,glioblastoma multiforme,colorectal cancer,lung squamous cell carcinoma,cervix carcinoma 26619011 ENST00000263967:c.241G>A 3 178916854 178916854 G A GRCh37 PIK3CA missense p.E81K colorectal cancer,breast cancer,uterine corpus endometrial carcinoma,medulloblastoma,lung adenocarcinoma,renal clear cell carcinoma,head and neck squamous cell carcinoma,glioblastoma multiforme,cervix carcinoma 26619011 ENST00000263967:c.263G>A 3 178916876 178916876 G A GRCh37 PIK3CA missense p.R88Q colorectal cancer,breast cancer,uterine corpus endometrial carcinoma,gastric adenocarcinoma,glioblastoma multiforme,uterine carcinosarcoma,prostate adenocarcinoma,head and neck squamous cell carcinoma,brain stem glioma,urinary bladder urothelial carcinoma 19366826,25157968,26619011 ENST00000263967:c.316G>C 3 178916929 178916929 G C GRCh37 PIK3CA missense p.G106R uterine carcinosarcoma,colorectal cancer,uterine corpus endometrial carcinoma,lung squamous cell carcinoma,cervix carcinoma,urinary bladder urothelial carcinoma 26619011 ENST00000263967:c.317G>T 3 178916930 178916930 G T GRCh37 PIK3CA missense p.G106V uterine carcinosarcoma,colorectal cancer,uterine corpus endometrial carcinoma,lung squamous cell carcinoma,cervix carcinoma,urinary bladder urothelial carcinoma 26619011 ENST00000263967:c.331A>G 3 178916944 178916944 A G GRCh37 PIK3CA missense p.K111E uterine corpus endometrial carcinoma,colorectal cancer,breast cancer,gastric adenocarcinoma,head and neck squamous cell carcinoma,neuroblastoma,multiple myeloma,lung adenocarcinoma,brain glioma,glioblastoma multiforme,cervix carcinoma 26619011 ENST00000263967:c.332A>G 3 178916945 178916945 A G GRCh37 PIK3CA missense p.K111R uterine corpus endometrial carcinoma,colorectal cancer,breast cancer,gastric adenocarcinoma,head and neck squamous cell carcinoma,neuroblastoma,multiple myeloma,lung adenocarcinoma,brain glioma,glioblastoma multiforme,cervix carcinoma 26619011 ENST00000263967:c.333G>C 3 178916946 178916946 G C GRCh37 PIK3CA missense p.K111N uterine corpus endometrial carcinoma,colorectal cancer,breast cancer,gastric adenocarcinoma,head and neck squamous cell carcinoma,neuroblastoma,multiple myeloma,lung adenocarcinoma,brain glioma,glioblastoma multiforme,cervix carcinoma 26619011 ENST00000263967:c.353G>A 3 178917478 178917478 G A GRCh37 PIK3CA missense p.G118D uterine corpus endometrial carcinoma,breast cancer,brain glioma,gastric adenocarcinoma,thyroid carcinoma,prostate adenocarcinoma,pancreas adenocarcinoma,lung squamous cell carcinoma,head and neck squamous cell carcinoma,glioblastoma multiforme,cervix carcinoma 26619011 ENST00000263967:c.1030G>A 3 178921548 178921548 G A GRCh37 PIK3CA missense p.V344M uterine corpus endometrial carcinoma,colorectal cancer,skin melanoma,non-Hodgkin lymphoma,head and neck squamous cell carcinoma,glioblastoma multiforme,cervix carcinoma,breast cancer 26619011 ENST00000263967:c.1031T>G 3 178921549 178921549 T G GRCh37 PIK3CA missense p.V344G uterine corpus endometrial carcinoma,colorectal cancer,skin melanoma,non-Hodgkin lymphoma,head and neck squamous cell carcinoma,glioblastoma multiforme,cervix carcinoma,breast cancer 26619011 ENST00000263967:c.1031T>C 3 178921549 178921549 T C GRCh37 PIK3CA missense p.V344A uterine corpus endometrial carcinoma,colorectal cancer,skin melanoma,non-Hodgkin lymphoma,head and neck squamous cell carcinoma,glioblastoma multiforme,cervix carcinoma,breast cancer 26619011 ENST00000263967:c.1033A>C 3 178921551 178921551 A C GRCh37 PIK3CA missense p.N345H breast cancer,uterine corpus endometrial carcinoma,gastric adenocarcinoma,colorectal cancer,uterine carcinosarcoma,prostate adenocarcinoma,lung adenocarcinoma,head and neck squamous cell carcinoma,glioblastoma multiforme,salivary gland adenoid cystic carcinoma 26619011 ENST00000263967:c.1034A>T 3 178921552 178921552 A T GRCh37 PIK3CA missense p.N345I breast cancer,uterine corpus endometrial carcinoma,gastric adenocarcinoma,colorectal cancer,uterine carcinosarcoma,prostate adenocarcinoma,lung adenocarcinoma,head and neck squamous cell carcinoma,glioblastoma multiforme,salivary gland adenoid cystic carcinoma 26619011 ENST00000263967:c.1034A>C 3 178921552 178921552 A C GRCh37 PIK3CA missense p.N345T breast cancer,uterine corpus endometrial carcinoma,gastric adenocarcinoma,colorectal cancer,uterine carcinosarcoma,prostate adenocarcinoma,lung adenocarcinoma,head and neck squamous cell carcinoma,glioblastoma multiforme,salivary gland adenoid cystic carcinoma 26619011 ENST00000263967:c.1035T>A 3 178921553 178921553 T A GRCh37 PIK3CA missense p.N345K colorectal cancer,breast cancer,uterine corpus endometrial carcinoma,gastric adenocarcinoma,uterine carcinosarcoma,prostate adenocarcinoma,lung adenocarcinoma,head and neck squamous cell carcinoma,glioblastoma multiforme,salivary gland adenoid cystic carcinoma 19366826,25157968,26619011 ENST00000263967:c.1035T>G 3 178921553 178921553 T G GRCh37 PIK3CA missense p.N345K colorectal cancer,breast cancer 19366826,25157968 ENST00000263967:c.1258T>C 3 178927980 178927980 T C GRCh37 PIK3CA missense p.C420R breast cancer,colorectal cancer,uterine corpus endometrial carcinoma,gastric adenocarcinoma,prostate adenocarcinoma,lung squamous cell carcinoma,salivary gland adenoid cystic carcinoma 25157968,26619011 ENST00000263967:c.1258T>G 3 178927980 178927980 T G GRCh37 PIK3CA missense p.C420G breast cancer,uterine corpus endometrial carcinoma,colorectal cancer,gastric adenocarcinoma,prostate adenocarcinoma,lung squamous cell carcinoma,salivary gland adenoid cystic carcinoma 26619011 ENST00000263967:c.1357G>A 3 178928079 178928079 G A GRCh37 PIK3CA missense p.E453K breast cancer,brain glioma,gastric adenocarcinoma,uterine corpus endometrial carcinoma,lung squamous cell carcinoma,lung adenocarcinoma,hepatocellular carcinoma,head and neck squamous cell carcinoma,glioblastoma multiforme,urinary bladder urothelial carcinoma 26619011 ENST00000263967:c.1357G>C 3 178928079 178928079 G C GRCh37 PIK3CA missense p.E453Q breast cancer,brain glioma,gastric adenocarcinoma,uterine corpus endometrial carcinoma,lung squamous cell carcinoma,lung adenocarcinoma,hepatocellular carcinoma,head and neck squamous cell carcinoma,glioblastoma multiforme,urinary bladder urothelial carcinoma 26619011 ENST00000263967:c.1359A>T 3 178928081 178928081 A T GRCh37 PIK3CA missense p.E453D breast cancer,brain glioma,gastric adenocarcinoma,uterine corpus endometrial carcinoma,lung squamous cell carcinoma,lung adenocarcinoma,hepatocellular carcinoma,head and neck squamous cell carcinoma,glioblastoma multiforme,urinary bladder urothelial carcinoma 26619011 ENST00000263967:c.1412C>T 3 178928226 178928226 C T GRCh37 PIK3CA missense p.P471L Merkel cell carcinoma 26466009 ENST00000263967:c.1616C>G 3 178936074 178936074 C G GRCh37 PIK3CA missense p.P539R breast cancer 25157968 ENST00000263967:c.1624G>A 3 178936082 178936082 G A GRCh37 PIK3CA missense p.E542K colorectal cancer,non-small cell lung carcinoma,breast cancer,ovarian cancer,head and neck squamous cell carcinoma,uterine corpus endometrial carcinoma,cervix carcinoma,urinary bladder urothelial carcinoma,gastric adenocarcinoma,lung adenocarcinoma,esophageal carcinoma,lung squamous cell carcinoma,prostate adenocarcinoma,brain glioma,glioblastoma multiforme,lung small cell carcinoma,hepatocellular carcinoma,papillary renal cell carcinoma 15016963,15254419,15647370,15805248,16906227,16930767,18676830,18725974,19029981,19366826,19513541,19903786,20453058,20619739,21430269,22162582,22162589,22271473,23066039,25157968,22357840,24559322,21558396,26619011,19223544 ENST00000263967:c.1624G>C 3 178936082 178936082 G C GRCh37 PIK3CA missense p.E542Q non-small cell lung carcinoma,breast cancer,head and neck squamous cell carcinoma,uterine corpus endometrial carcinoma,colorectal cancer,cervix carcinoma,urinary bladder urothelial carcinoma,gastric adenocarcinoma,lung adenocarcinoma,esophageal carcinoma,lung squamous cell carcinoma,prostate adenocarcinoma,brain glioma,glioblastoma multiforme,lung small cell carcinoma,hepatocellular carcinoma,papillary renal cell carcinoma 25157968,26619011 ENST00000263967:c.1625A>C 3 178936083 178936083 A C GRCh37 PIK3CA missense p.E542A breast cancer,head and neck squamous cell carcinoma,uterine corpus endometrial carcinoma,colorectal cancer,cervix carcinoma,urinary bladder urothelial carcinoma,gastric adenocarcinoma,lung adenocarcinoma,esophageal carcinoma,lung squamous cell carcinoma,prostate adenocarcinoma,brain glioma,glioblastoma multiforme,lung small cell carcinoma,hepatocellular carcinoma,papillary renal cell carcinoma 26619011 ENST00000263967:c.1625A>T 3 178936083 178936083 A T GRCh37 PIK3CA missense p.E542V breast cancer,head and neck squamous cell carcinoma,uterine corpus endometrial carcinoma,colorectal cancer,cervix carcinoma,urinary bladder urothelial carcinoma,gastric adenocarcinoma,lung adenocarcinoma,esophageal carcinoma,lung squamous cell carcinoma,prostate adenocarcinoma,brain glioma,glioblastoma multiforme,lung small cell carcinoma,hepatocellular carcinoma,papillary renal cell carcinoma 26619011 ENST00000263967:c.1625A>G 3 178936083 178936083 A G GRCh37 PIK3CA missense p.E542G breast cancer,head and neck squamous cell carcinoma,uterine corpus endometrial carcinoma,colorectal cancer,cervix carcinoma,urinary bladder urothelial carcinoma,gastric adenocarcinoma,lung adenocarcinoma,esophageal carcinoma,lung squamous cell carcinoma,prostate adenocarcinoma,brain glioma,glioblastoma multiforme,lung small cell carcinoma,hepatocellular carcinoma,papillary renal cell carcinoma 26619011 ENST00000263967:c.1633G>A 3 178936091 178936091 G A GRCh37 PIK3CA missense p.E545K colorectal cancer,non-small cell lung carcinoma,breast cancer,ovarian cancer,head and neck squamous cell carcinoma,cervix carcinoma,urinary bladder urothelial carcinoma,uterine corpus endometrial carcinoma,gastric adenocarcinoma,lung squamous cell carcinoma,lung adenocarcinoma,uterine carcinosarcoma,glioblastoma multiforme,esophageal carcinoma,skin melanoma,prostate adenocarcinoma,brain glioma,renal clear cell carcinoma,brain stem glioma,gallbladder carcinoma,pancreas adenocarcinoma,ovarian serous cystadenocarcinoma,nasopharynx carcinoma,lung small cell carcinoma,hepatocellular carcinoma,papillary renal cell carcinoma 15016963,15254419,15647370,15805248,16906227,16930767,18676830,18725974,19029981,19366826,19513541,19903786,20453058,20619739,21430269,22162582,22162589,22271473,23066039,25157968,23888070,19223544,26619011 ENST00000263967:c.1633G>C 3 178936091 178936091 G C GRCh37 PIK3CA missense p.E545Q colorectal cancer,non-small cell lung carcinoma,breast cancer,head and neck cancer,head and neck squamous cell carcinoma,cervix carcinoma,urinary bladder urothelial carcinoma,uterine corpus endometrial carcinoma,gastric adenocarcinoma,lung squamous cell carcinoma,lung adenocarcinoma,uterine carcinosarcoma,glioblastoma multiforme,esophageal carcinoma,skin melanoma,prostate adenocarcinoma,brain glioma,renal clear cell carcinoma,brain stem glioma,gallbladder carcinoma,pancreas adenocarcinoma,ovarian serous cystadenocarcinoma,nasopharynx carcinoma,lung small cell carcinoma,hepatocellular carcinoma,papillary renal cell carcinoma 15016963,15254419,15647370,15805248,16906227,16930767,18676830,18725974,19029981,19366826,19513541,19903786,20453058,20619739,21430269,22162582,22162589,23408298,25157968,26619011 ENST00000263967:c.1634A>C 3 178936092 178936092 A C GRCh37 PIK3CA missense p.E545A colorectal cancer,breast cancer,ovarian cancer,head and neck squamous cell carcinoma,cervix carcinoma,urinary bladder urothelial carcinoma,uterine corpus endometrial carcinoma,gastric adenocarcinoma,lung squamous cell carcinoma,lung adenocarcinoma,uterine carcinosarcoma,glioblastoma multiforme,esophageal carcinoma,skin melanoma,prostate adenocarcinoma,brain glioma,renal clear cell carcinoma,brain stem glioma,gallbladder carcinoma,pancreas adenocarcinoma,ovarian serous cystadenocarcinoma,nasopharynx carcinoma,lung small cell carcinoma,hepatocellular carcinoma,papillary renal cell carcinoma 15016963,15254419,15647370,15805248,18676830,18725974,19366826,19903786,20453058,20619739,22162582,22162589,22271473,25157968,26619011 ENST00000263967:c.1634A>G 3 178936092 178936092 A G GRCh37 PIK3CA missense p.E545G colorectal cancer,breast cancer,melanoma,head and neck squamous cell carcinoma,cervix carcinoma,urinary bladder urothelial carcinoma,uterine corpus endometrial carcinoma,gastric adenocarcinoma,lung squamous cell carcinoma,lung adenocarcinoma,uterine carcinosarcoma,glioblastoma multiforme,esophageal carcinoma,skin melanoma,prostate adenocarcinoma,brain glioma,renal clear cell carcinoma,brain stem glioma,gallbladder carcinoma,pancreas adenocarcinoma,ovarian serous cystadenocarcinoma,nasopharynx carcinoma,lung small cell carcinoma,hepatocellular carcinoma,papillary renal cell carcinoma 15016963,15254419,15647370,15805248,18676830,18725974,19366826,19903786,20453058,20619739,22162582,22162589,24265155,25157968,26619011 ENST00000263967:c.1634A>T 3 178936092 178936092 A T GRCh37 PIK3CA missense p.E545V colorectal cancer,breast cancer 15016963,15254419,15647370,15805248,18676830,18725974,19366826,19903786,20453058,20619739,22162582,22162589 ENST00000263967:c.1635G>C 3 178936093 178936093 G C GRCh37 PIK3CA missense p.E545D breast cancer 25157968 ENST00000263967:c.1635G>T 3 178936093 178936093 G T GRCh37 PIK3CA missense p.E545D breast cancer,colorectal cancer,head and neck squamous cell carcinoma,cervix carcinoma,urinary bladder urothelial carcinoma,uterine corpus endometrial carcinoma,gastric adenocarcinoma,lung squamous cell carcinoma,lung adenocarcinoma,uterine carcinosarcoma,glioblastoma multiforme,esophageal carcinoma,skin melanoma,prostate adenocarcinoma,brain glioma,renal clear cell carcinoma,brain stem glioma,gallbladder carcinoma,pancreas adenocarcinoma,ovarian serous cystadenocarcinoma,nasopharynx carcinoma,lung small cell carcinoma,hepatocellular carcinoma,papillary renal cell carcinoma 25157968,26619011 ENST00000263967:c.1636C>A 3 178936094 178936094 C A GRCh37 PIK3CA missense p.Q546K colorectal cancer,breast cancer,ovarian cancer,lung cancer,uterine corpus endometrial carcinoma,brain glioma,gastric adenocarcinoma,prostate adenocarcinoma,head and neck squamous cell carcinoma,urinary bladder urothelial carcinoma,uterine carcinosarcoma,skin melanoma,medulloblastoma,glioblastoma multiforme,cervix carcinoma 15016963,15254419,15647370,15805248,18676830,18725974,19366826,19903786,20453058,20619739,22162582,22162589,22271473,25157968,26619011 ENST00000263967:c.1636C>G 3 178936094 178936094 C G GRCh37 PIK3CA missense p.Q546E colorectal cancer,breast cancer,uterine corpus endometrial carcinoma,brain glioma,gastric adenocarcinoma,prostate adenocarcinoma,head and neck squamous cell carcinoma,urinary bladder urothelial carcinoma,uterine carcinosarcoma,skin melanoma,medulloblastoma,glioblastoma multiforme,cervix carcinoma 15016963,15254419,15647370,15805248,18676830,18725974,19366826,19903786,20453058,20619739,22162582,22162589,26619011 ENST00000263967:c.1637A>C 3 178936095 178936095 A C GRCh37 PIK3CA missense p.Q546P colorectal cancer,breast cancer,uterine corpus endometrial carcinoma,brain glioma,gastric adenocarcinoma,prostate adenocarcinoma,head and neck squamous cell carcinoma,urinary bladder urothelial carcinoma,uterine carcinosarcoma,skin melanoma,medulloblastoma,glioblastoma multiforme,cervix carcinoma 15016963,15254419,15647370,15805248,18676830,18725974,19366826,19903786,20453058,20619739,22162582,22162589,26619011 ENST00000263967:c.1637A>G 3 178936095 178936095 A G GRCh37 PIK3CA missense p.Q546R colorectal cancer,breast cancer,uterine corpus endometrial carcinoma,brain glioma,gastric adenocarcinoma,prostate adenocarcinoma,head and neck squamous cell carcinoma,urinary bladder urothelial carcinoma,uterine carcinosarcoma,skin melanoma,medulloblastoma,glioblastoma multiforme,cervix carcinoma 15016963,15254419,15647370,15805248,18676830,18725974,19366826,19903786,20453058,20619739,22162582,22162589,26619011 ENST00000263967:c.1637A>T 3 178936095 178936095 A T GRCh37 PIK3CA missense p.Q546L breast cancer,uterine corpus endometrial carcinoma,colorectal cancer,brain glioma,gastric adenocarcinoma,prostate adenocarcinoma,head and neck squamous cell carcinoma,urinary bladder urothelial carcinoma,uterine carcinosarcoma,skin melanoma,medulloblastoma,glioblastoma multiforme,cervix carcinoma 15254419,15647370,15805248,18676830,18725974,20453058,22162582,22162589,26619011 ENST00000263967:c.1638G>T 3 178936096 178936096 G T GRCh37 PIK3CA missense p.Q546H breast cancer,uterine corpus endometrial carcinoma,colorectal cancer,brain glioma,gastric adenocarcinoma,prostate adenocarcinoma,head and neck squamous cell carcinoma,urinary bladder urothelial carcinoma,uterine carcinosarcoma,skin melanoma,medulloblastoma,glioblastoma multiforme,cervix carcinoma 26619011 ENST00000263967:c.1645G>A 3 178936103 178936103 G A GRCh37 PIK3CA missense p.D549N colorectal cancer,breast cancer 15016963,15254419,15647370,15805248,18676830,18725974,19366826,19903786,20453058,20619739,22162582,22162589 ENST00000263967:c.2102A>C 3 178938860 178938860 A C GRCh37 PIK3CA missense p.H701P breast cancer 15805248,25157968 ENST00000263967:c.2176G>A 3 178938934 178938934 G A GRCh37 PIK3CA missense p.E726K breast cancer,colorectal cancer,cervix carcinoma,lung squamous cell carcinoma,head and neck squamous cell carcinoma,urinary bladder urothelial carcinoma,lung adenocarcinoma,brain stem glioma 26619011 ENST00000263967:c.2177A>C 3 178938935 178938935 A C GRCh37 PIK3CA missense p.E726A breast cancer,colorectal cancer,cervix carcinoma,lung squamous cell carcinoma,head and neck squamous cell carcinoma,urinary bladder urothelial carcinoma,lung adenocarcinoma,brain stem glioma 26619011 ENST00000263967:c.3062A>G 3 178952007 178952007 A G GRCh37 PIK3CA missense p.Y1021C breast cancer 25157968 ENST00000263967:c.3127A>G 3 178952072 178952072 A G GRCh37 PIK3CA missense p.M1043V uterine corpus endometrial carcinoma,breast cancer,brain glioma,head and neck squamous cell carcinoma,glioblastoma multiforme,colorectal cancer,thyroid carcinoma,gastric adenocarcinoma,pancreas adenocarcinoma,urinary bladder urothelial carcinoma,salivary gland adenoid cystic carcinoma 26619011 ENST00000263967:c.3127A>T 3 178952072 178952072 A T GRCh37 PIK3CA missense p.M1043L uterine corpus endometrial carcinoma,breast cancer,brain glioma,head and neck squamous cell carcinoma,glioblastoma multiforme,colorectal cancer,thyroid carcinoma,gastric adenocarcinoma,pancreas adenocarcinoma,urinary bladder urothelial carcinoma,salivary gland adenoid cystic carcinoma 26619011 ENST00000263967:c.3128T>C 3 178952073 178952073 T C GRCh37 PIK3CA missense p.M1043T uterine corpus endometrial carcinoma,breast cancer,brain glioma,head and neck squamous cell carcinoma,glioblastoma multiforme,colorectal cancer,thyroid carcinoma,gastric adenocarcinoma,pancreas adenocarcinoma,urinary bladder urothelial carcinoma,salivary gland adenoid cystic carcinoma 26619011 ENST00000263967:c.3129G>A 3 178952074 178952074 G A GRCh37 PIK3CA missense p.M1043I colorectal cancer,uterine corpus endometrial carcinoma,breast cancer,brain glioma,head and neck squamous cell carcinoma,glioblastoma multiforme,thyroid carcinoma,gastric adenocarcinoma,pancreas adenocarcinoma,urinary bladder urothelial carcinoma,salivary gland adenoid cystic carcinoma 15930273,25157968,26619011 ENST00000263967:c.3129G>T 3 178952074 178952074 G T GRCh37 PIK3CA missense p.M1043I colorectal cancer 15930273,25157968 ENST00000263967:c.3139C>T 3 178952084 178952084 C T GRCh37 PIK3CA missense p.H1047Y oral squamous cell carcinoma,breast cancer,uterine corpus endometrial carcinoma,colorectal cancer,head and neck squamous cell carcinoma,gastric adenocarcinoma,uterine carcinosarcoma,skin melanoma,lung adenocarcinoma,hepatocellular carcinoma,cervix carcinoma,prostate adenocarcinoma,pancreas adenocarcinoma,medulloblastoma,lung squamous cell carcinoma,brain glioma,renal clear cell carcinoma,brain stem glioma,glioblastoma multiforme,urinary bladder urothelial carcinoma,ovarian serous cystadenocarcinoma,esophageal carcinoma,adrenocortical carcinoma 21824802,25157968,26619011 ENST00000263967:c.3140A>G 3 178952085 178952085 A G GRCh37 PIK3CA missense p.H1047R colorectal cancer,non-small cell lung carcinoma,breast cancer,ovarian cancer,cancer,uterine corpus endometrial carcinoma,head and neck squamous cell carcinoma,gastric adenocarcinoma,uterine carcinosarcoma,skin melanoma,lung adenocarcinoma,hepatocellular carcinoma,cervix carcinoma,prostate adenocarcinoma,pancreas adenocarcinoma,medulloblastoma,lung squamous cell carcinoma,brain glioma,renal clear cell carcinoma,brain stem glioma,glioblastoma multiforme,urinary bladder urothelial carcinoma,ovarian serous cystadenocarcinoma,esophageal carcinoma,adrenocortical carcinoma,head and neck cancer 15016963,15254419,15647370,15805248,16906227,16930767,18676830,18725974,19029981,19366826,19513541,19903786,20453058,20619739,21430269,22162582,22162589,22271473,25157968,21558396,26619011,25855885,19223544,23619167 ENST00000263967:c.3140A>T 3 178952085 178952085 A T GRCh37 PIK3CA missense p.H1047L colorectal cancer,non-small cell lung carcinoma,breast cancer,ovarian cancer,uterine corpus endometrial carcinoma,head and neck squamous cell carcinoma,gastric adenocarcinoma,uterine carcinosarcoma,skin melanoma,lung adenocarcinoma,hepatocellular carcinoma,cervix carcinoma,prostate adenocarcinoma,pancreas adenocarcinoma,medulloblastoma,lung squamous cell carcinoma,brain glioma,renal clear cell carcinoma,brain stem glioma,glioblastoma multiforme,urinary bladder urothelial carcinoma,ovarian serous cystadenocarcinoma,esophageal carcinoma,adrenocortical carcinoma 15016963,15254419,15647370,15805248,16906227,16930767,18676830,18725974,19029981,19366826,19513541,19903786,20453058,20619739,21430269,22162582,22162589,22271473,25157968,26619011 ENST00000263967:c.3141T>G 3 178952086 178952086 T G GRCh37 PIK3CA missense p.H1047Q breast cancer,uterine corpus endometrial carcinoma,colorectal cancer,head and neck squamous cell carcinoma,gastric adenocarcinoma,uterine carcinosarcoma,skin melanoma,lung adenocarcinoma,hepatocellular carcinoma,cervix carcinoma,prostate adenocarcinoma,pancreas adenocarcinoma,medulloblastoma,lung squamous cell carcinoma,brain glioma,renal clear cell carcinoma,brain stem glioma,glioblastoma multiforme,urinary bladder urothelial carcinoma,ovarian serous cystadenocarcinoma,esophageal carcinoma,adrenocortical carcinoma 26619011 ENST00000263967:c.3145G>C 3 178952090 178952090 G C GRCh37 PIK3CA missense p.G1049R oral squamous cell carcinoma 21824802,25157968 ENST00000263967:c.3145G>A 3 178952090 178952090 G A GRCh37 PIK3CA missense p.G1049S colorectal cancer 25157968 ENST00000340107:c.742C>T 4 1803564 1803564 C T GRCh37 FGFR3 missense p.R248C lung adenocarcinoma 25157968 ENST00000352904:c.742C>T 4 1803564 1803564 C T GRCh37 FGFR3 missense p.R248C urinary bladder urothelial carcinoma,multiple myeloma,lung squamous cell carcinoma,head and neck squamous cell carcinoma,carcinoma 26619011,10471491 ENST00000340107:c.746C>G 4 1803568 1803568 C G GRCh37 FGFR3 missense p.S249C bladder carcinoma 19381019,25157968 ENST00000352904:c.746C>G 4 1803568 1803568 C G GRCh37 FGFR3 missense p.S249C urinary bladder urothelial carcinoma,head and neck squamous cell carcinoma,lung squamous cell carcinoma,papillary renal cell carcinoma,carcinoma 26619011,10471491 ENST00000340107:c.1114G>T 4 1806089 1806089 G T GRCh37 FGFR3 missense p.G372C bladder carcinoma 19381019,25157968 ENST00000340107:c.1117A>T 4 1806092 1806092 A T GRCh37 FGFR3 missense p.S373C bladder carcinoma 25157968 ENST00000260795:c.1111A>T 4 1806092 1806092 A T GRCh37 FGFR3 missense p.S371C carcinoma 12009017 ENST00000340107:c.1124A>G 4 1806099 1806099 A G GRCh37 FGFR3 missense p.Y375C bladder carcinoma,myeloma,urinary bladder urothelial carcinoma,papillary renal cell carcinoma 19381019,25157968,19331127,21273588,22869148,20542753,26619011 ENST00000260795:c.1118A>G 4 1806099 1806099 A G GRCh37 FGFR3 missense p.Y373C urinary bladder urothelial carcinoma,papillary renal cell carcinoma,carcinoma 26619011,11429702 ENST00000260795:c.1172C>A 4 1806153 1806153 C A GRCh37 FGFR3 missense p.A391E carcinoma 19165726 ENST00000340107:c.1663G>A 4 1807488 1807488 G A GRCh37 FGFR3 missense p.V555M myeloma 22869148 ENST00000340107:c.1949A>T 4 1807884 1807884 A T GRCh37 FGFR3 missense p.Y650F carcinoma 9857065 ENST00000340107:c.1949A>C 4 1807884 1807884 A C GRCh37 FGFR3 missense p.Y650S acanthosis nigricans 17875876 ENST00000340107:c.1954A>C 4 1807889 1807889 A C GRCh37 FGFR3 missense p.K652Q bladder carcinoma 25157968 ENST00000260795:c.1948A>C 4 1807889 1807889 A C GRCh37 FGFR3 missense p.K650Q acanthosis nigricans 18000903 ENST00000260795:c.1948A>G 4 1807889 1807889 A G GRCh37 FGFR3 missense p.K650E carcinoma 10471491,11429702 ENST00000340107:c.2095G>T 4 1808331 1808331 G T GRCh37 FGFR3 missense p.G699C bladder carcinoma 25157968 ENST00000260795:c.2089G>T 4 1808331 1808331 G T GRCh37 FGFR3 missense p.G697C carcinoma 15880580 ENST00000257290:c.1682T>A 4 55141036 55141036 T A GRCh37 PDGFRA missense p.V561D gastrointestinal stromal tumor 14645423,15928335,16954519,17087936,25157968 ENST00000257290:c.1682T>C 4 55141036 55141036 T C GRCh37 PDGFRA missense p.V561A gastrointestinal stromal tumor 12949711 ENST00000257290:c.1729C>T 4 55141083 55141083 C T GRCh37 PDGFRA missense p.P577S melanoma 24132921 ENST00000257290:c.1973T>C 4 55144144 55144144 T C GRCh37 PDGFRA missense p.V658A melanoma 24132921 ENST00000257290:c.1977C>A 4 55144148 55144148 C A GRCh37 PDGFRA missense p.N659K gastrointestinal stromal tumor 14645423,15928335 ENST00000257290:c.1977C>G 4 55144148 55144148 C G GRCh37 PDGFRA missense p.N659K gastrointestinal stromal tumor 14645423,15928335 ENST00000257290:c.2521delAGAGAC 4 55152089 55152094 AGAGAC - GRCh37 PDGFRA inframe p.RD841- gastrointestinal stromal tumor 25157968 ENST00000257290:c.2522G>A 4 55152090 55152090 G A GRCh37 PDGFRA missense p.R841K melanoma 24132921 ENST00000257290:c.2524GA>AT 4 55152092 55152093 GA AT GRCh37 PDGFRA missense p.D842I gastrointestinal stromal tumor 16954519,17087936,25157968 ENST00000257290:c.2524G>T 4 55152092 55152092 G T GRCh37 PDGFRA missense p.D842Y gastrointestinal stromal tumor 25157968,22745105 ENST00000257290:c.2524delGACATCATG 4 55152092 55152100 GACATCATG - GRCh37 PDGFRA inframe p.DIM842- gastrointestinal stromal tumor 25157968 ENST00000257290:c.2524delGACATCATGCAT 4 55152092 55152103 GACATCATGCAT - GRCh37 PDGFRA inframe p.DIMH842- gastrointestinal stromal tumor 25157968 ENST00000257290:c.2525A>T 4 55152093 55152093 A T GRCh37 PDGFRA missense p.D842V gastrointestinal stromal tumor 14645423,16638875,18794084,22718859,15685537,25157968,15146165,26130666,12949711,16954519,15928335,22745105 ENST00000257290:c.2527delATCATGCATGAT 4 55152095 55152106 ATCATGCATGAT - GRCh37 PDGFRA inframe p.IMHD843- gastrointestinal stromal tumor 25157968 ENST00000257290:c.2533C>T 4 55152101 55152101 C T GRCh37 PDGFRA missense p.H845Y melanoma 24132921 ENST00000257290:c.2536G>T 4 55152104 55152104 G T GRCh37 PDGFRA missense p.D846Y gastrointestinal stromal tumor 15928335,25157968 ENST00000257290:c.2558G>A 4 55152126 55152126 G A GRCh37 PDGFRA missense p.G853D melanoma 24132921 ENST00000288135:c.154G>A 4 55561764 55561764 G A GRCh37 KIT missense p.D52N cancer 25157968 ENST00000288135:c.1468G>A 4 55592144 55592144 G A GRCh37 KIT missense p.E490K thymic carcinoma 21325067,22357254 ENST00000288135:c.1510T>C 4 55592186 55592186 T C GRCh37 KIT missense p.F504L melanoma 21131919 ENST00000288135:c.1621A>C 4 55593464 55593464 A C GRCh37 KIT missense p.M541L chronic myeloid leukemia 16307017 ENST00000288135:c.1650A>C 4 55593584 55593584 A C GRCh37 KIT missense p.K550N melanoma 24531699,24661573 ENST00000288135:c.1650A>T 4 55593584 55593584 A T GRCh37 KIT missense p.K550N melanoma 24531699,24661573 ENST00000288135:c.1657T>A 4 55593591 55593591 T A GRCh37 KIT missense p.Y553N thymic carcinoma,melanoma 21969494,22357254,23375402 ENST00000288135:c.1669T>A 4 55593603 55593603 T A GRCh37 KIT missense p.W557R melanoma,gastrointestinal stromal tumor 21690468,7530509,9438854,11276010,15790786,17372901,18421059,18510589,18936790,18980976,19671763,19812602,21642685,22261812,25157968,16731599 ENST00000288135:c.1669T>C 4 55593603 55593603 T C GRCh37 KIT missense p.W557R melanoma,thymic carcinoma,gastrointestinal stromal tumor 7530509,9438854,11276010,12960119,15790786,17372901,18421059,18510589,18936790,18980976,19671763,19812602,21642685,21690468,22261812,22357254,25157968 ENST00000288135:c.1669T>G 4 55593603 55593603 T G GRCh37 KIT missense p.W557G gastrointestinal stromal tumor 16731599 ENST00000288135:c.1670G>C 4 55593604 55593604 G C GRCh37 KIT missense p.W557S gastrointestinal stromal tumor 16731599 ENST00000288135:c.1670GG>TT 4 55593604 55593605 GG TT GRCh37 KIT missense p.W557F gastrointestinal stromal tumor 16731599 ENST00000288135:c.1671G>C 4 55593605 55593605 G C GRCh37 KIT missense p.W557C gastrointestinal stromal tumor 16731599 ENST00000288135:c.1672A>C 4 55593606 55593606 A C GRCh37 KIT missense p.K558Q gastrointestinal stromal tumor 16731599 ENST00000288135:c.1672A>G 4 55593606 55593606 A G GRCh37 KIT missense p.K558E gastrointestinal stromal tumor 16731599 ENST00000288135:c.1674G>C 4 55593608 55593608 G C GRCh37 KIT missense p.K558N melanoma 22160160 ENST00000288135:c.1674G>T 4 55593608 55593608 G T GRCh37 KIT missense p.K558N melanoma,gastrointestinal stromal tumor 22160160,16731599 ENST00000288135:c.1675G>A 4 55593609 55593609 G A GRCh37 KIT missense p.V559I chronic myeloproliferative disease,gastrointestinal stromal tumor 19175693,23582185,21689725,17259998,25157968 ENST00000288135:c.1675delGTT 4 55593609 55593611 GTT - GRCh37 KIT inframe p.V559- melanoma 25157968 ENST00000288135:c.1676T>A 4 55593610 55593610 T A GRCh37 KIT missense p.V559D melanoma,gastrointestinal stromal tumor 7530509,9438854,11276010,15790786,16908931,17372901,18936790,18980976,19671763,19812602,21642685,21690468,16046538,23582185,21689725,17259998,25157968,16731599 ENST00000288135:c.1676T>C 4 55593610 55593610 T C GRCh37 KIT missense p.V559A thymic carcinoma,melanoma,gastrointestinal stromal tumor 12960119,20736294,22357254,11276010,15790786,16908931,17372901,18980976,19812602,21159146,24755198,7530509,9438854,25157968,16731599 ENST00000288135:c.1676T>G 4 55593610 55593610 T G GRCh37 KIT missense p.V559G melanoma,gastrointestinal stromal tumor 24531699,24661573,25157968,16731599 ENST00000288135:c.1678delGTT 4 55593612 55593612 GTT - GRCh37 KIT frameshift p.V560X thymic carcinoma 15201427,15930355,17372901,19861435 ENST00000288135:c.1679T>A 4 55593613 55593613 T A GRCh37 KIT missense p.V560D melanoma,gastrointestinal stromal tumor 18936790,19164557,25157968,16731599 ENST00000288135:c.1679T>C 4 55593613 55593613 T C GRCh37 KIT missense p.V560A melanoma 18936790 ENST00000288135:c.1679T>G 4 55593613 55593613 T G GRCh37 KIT missense p.V560G melanoma,gastrointestinal stromal tumor 18936790,19737976,25157968,16731599 ENST00000288135:c.1679TT>AA 4 55593613 55593614 TT AA GRCh37 KIT missense p.V560E gastrointestinal stromal tumor 16731599 ENST00000288135:c.1696A>G 4 55593630 55593630 A G GRCh37 KIT missense p.N566D melanoma 24531699,24661573 ENST00000288135:c.1706T>G 4 55593640 55593640 T G GRCh37 KIT missense p.V569G melanoma 24531699,24661573 ENST00000288135:c.1727T>C 4 55593661 55593661 T C GRCh37 KIT missense p.L576P melanoma,thymic carcinoma,non-small cell lung carcinoma,gastrointestinal stromal tumor 7530509,9438854,11276010,15790786,16908931,17372901,18448188,18980976,19996579,21642685,21690468,22261812,22357254,25157968,16731599,19671763 ENST00000288135:c.1730delCTTATGATC 4 55593664 55593664 CTTATGATC - GRCh37 KIT frameshift p.P577X thymic carcinoma 20970876 ENST00000288135:c.1924A>G 4 55594221 55594221 A G GRCh37 KIT missense p.K642E melanoma,gastrointestinal stromal tumor,skin melanoma,gastric adenocarcinoma,hematologic cancer 11276010,15790786,16908931,17372901,18510589,18980976,20545949,7530509,9438854,11526490,17824795,25157968,26619011 ENST00000288135:c.1926A>C 4 55594223 55594223 A C GRCh37 KIT missense p.K642N skin melanoma,gastric adenocarcinoma 26619011 ENST00000288135:c.1961T>C 4 55594258 55594258 T C GRCh37 KIT missense p.V654A melanoma,gastrointestinal stromal tumor 22355224,22932406,15685537,17363509,23582185,21689725,17259998,16751810,25157968,16954519,16638875 ENST00000288135:c.1961T>A 4 55594258 55594258 T A GRCh37 KIT missense p.V654E melanoma 22932406 ENST00000288135:c.1964A>G 4 55594261 55594261 A G GRCh37 KIT missense p.N655S melanoma 24531699,24661573 ENST00000288135:c.1965T>A 4 55594262 55594262 T A GRCh37 KIT missense p.N655K melanoma 24661573,24531699 ENST00000288135:c.1965T>G 4 55594262 55594262 T G GRCh37 KIT missense p.N655K melanoma 21569090 ENST00000288135:c.2009C>T 4 55595519 55595519 C T GRCh37 KIT missense p.T670I gastrointestinal stromal tumor 15236194,15685537,24687822,23582185,21689725,17259998,25157968 ENST00000288135:c.2089C>T 4 55595599 55595599 C T GRCh37 KIT missense p.H697Y thymic carcinoma 19861435 ENST00000288135:c.2446G>C 4 55599320 55599320 G C GRCh37 KIT missense p.D816H melanoma,gastrointestinal stromal tumor,hematologic cancer 7530509,9438854,11276010,15790786,18955458,21642685,21690468,19164557,20147452,25157968,16731599 ENST00000288135:c.2446G>T 4 55599320 55599320 G T GRCh37 KIT missense p.D816Y acute myeloid leukemia,melanoma,gastrointestinal stromal tumor,hematologic cancer 19164557,23714533,16741525,15790786,25157968,16731599 ENST00000288135:c.2446GA>AT 4 55599320 55599321 GA AT GRCh37 KIT missense p.D816I acute myeloid leukemia 19164557,23714533 ENST00000288135:c.2447A>T 4 55599321 55599321 A T GRCh37 KIT missense p.D816V acute myeloid leukemia,gastrointestinal stromal tumor,mast-cell leukemia,hematologic cancer 22504184,18986703,19164557,23714533,24045550,15972446,16912224,18024392,23582185,21689725,17259998,25157968,16384925,16731599 ENST00000288135:c.2458G>C 4 55599332 55599332 G C GRCh37 KIT missense p.D820H melanoma 7530509,9438854,11276010,15790786,18955458,21642685,21690468 ENST00000288135:c.2458G>T 4 55599332 55599332 G T GRCh37 KIT missense p.D820Y melanoma 20088873,21642685,23775962 ENST00000288135:c.2459A>T 4 55599333 55599333 A T GRCh37 KIT missense p.D820V systemic mastocytosis 18559612 ENST00000288135:c.2460T>A 4 55599334 55599334 T A GRCh37 KIT missense p.D820E thymic carcinoma 17699867,19461405,22357254 ENST00000288135:c.2465A>T 4 55599339 55599339 A T GRCh37 KIT missense p.N822I melanoma,gastrointestinal stromal tumor 21159146,23582185,21689725,17259998 ENST00000288135:c.2466T>A 4 55599340 55599340 T A GRCh37 KIT missense p.N822K melanoma,gastrointestinal stromal tumor,acute myeloid leukemia 21642685,22932406,15685537,17699867,23149070,25157968 ENST00000288135:c.2466T>G 4 55599340 55599340 T G GRCh37 KIT missense p.N822K melanoma,gastrointestinal stromal tumor,acute myeloid leukemia 21642685,22932406,15685537,17699867,23149070,25157968 ENST00000288135:c.2467T>G 4 55599341 55599341 T G GRCh37 KIT missense p.Y823D gastrointestinal stromal tumor 23582185,21689725,17259998 ENST00000288135:c.2474T>C 4 55599348 55599348 T C GRCh37 KIT missense p.V825A melanoma 25157968 ENST00000288135:c.2485G>C 4 55602664 55602664 G C GRCh37 KIT missense p.A829P melanoma,gastrointestinal stromal tumor 23582185,21689725,17259998 ENST00000288135:c.2515G>A 4 55602694 55602694 G A GRCh37 KIT missense p.E839K gastrointestinal stromal tumor 15790786,25157968 ENST00000288135:c.2586G>C 4 55602765 55602765 G C GRCh37 KIT synonymous p.L862 acute myeloid leukemia 24178622 ENST00000263923:c.3193G>A 4 55955969 55955969 C T GRCh37 KDR missense p.A1065T angiosarcoma 19723655 ENST00000263923:c.2881C>T 4 55961059 55961059 G A GRCh37 KDR missense p.R961W colorectal adenocarcinoma 27004155 ENST00000263923:c.2150A>T 4 55968180 55968180 T A GRCh37 KDR missense p.D717V angiosarcoma 19723655 ENST00000273854:c.1745G>A 4 66270137 66270137 C T GRCh37 EPHA5 missense p.G582E lung adenocarcinoma 16140923 ENST00000237612:c.421C>A 4 89052323 89052323 G T GRCh37 ABCG2 missense p.Q141K ovarian cancer 22112610 ENST00000281708:c.1973G>A 4 153244184 153244184 C T GRCh37 FBXW7 missense p.R658Q colorectal cancer,uterine corpus endometrial carcinoma,cervix carcinoma,uterine carcinosarcoma,skin melanoma,head and neck squamous cell carcinoma,glioblastoma multiforme,urinary bladder urothelial carcinoma 26619011 ENST00000281708:c.1514G>T 4 153247288 153247288 C A GRCh37 FBXW7 missense p.R505L colorectal cancer,head and neck squamous cell carcinoma,uterine corpus endometrial carcinoma,urinary bladder urothelial carcinoma,uterine carcinosarcoma,lung squamous cell carcinoma,cervix carcinoma,skin melanoma,gastric adenocarcinoma,ovarian serous cystadenocarcinoma,esophageal carcinoma,chronic lymphocytic leukemia 26619011 ENST00000281708:c.1514G>A 4 153247288 153247288 C T GRCh37 FBXW7 missense p.R505H colorectal cancer,head and neck squamous cell carcinoma,uterine corpus endometrial carcinoma,urinary bladder urothelial carcinoma,uterine carcinosarcoma,lung squamous cell carcinoma,cervix carcinoma,skin melanoma,gastric adenocarcinoma,ovarian serous cystadenocarcinoma,esophageal carcinoma,chronic lymphocytic leukemia 26619011 ENST00000281708:c.1513C>G 4 153247289 153247289 G C GRCh37 FBXW7 missense p.R505G colorectal cancer,head and neck squamous cell carcinoma,uterine corpus endometrial carcinoma,urinary bladder urothelial carcinoma,uterine carcinosarcoma,lung squamous cell carcinoma,cervix carcinoma,skin melanoma,gastric adenocarcinoma,ovarian serous cystadenocarcinoma,esophageal carcinoma,chronic lymphocytic leukemia 26619011 ENST00000281708:c.1513C>T 4 153247289 153247289 G A GRCh37 FBXW7 missense p.R505C colorectal cancer,head and neck squamous cell carcinoma,uterine corpus endometrial carcinoma,urinary bladder urothelial carcinoma,uterine carcinosarcoma,lung squamous cell carcinoma,cervix carcinoma,skin melanoma,gastric adenocarcinoma,ovarian serous cystadenocarcinoma,esophageal carcinoma,chronic lymphocytic leukemia 26619011 ENST00000281708:c.1513C>A 4 153247289 153247289 G T GRCh37 FBXW7 missense p.R505S colorectal cancer,head and neck squamous cell carcinoma,uterine corpus endometrial carcinoma,urinary bladder urothelial carcinoma,uterine carcinosarcoma,lung squamous cell carcinoma,cervix carcinoma,skin melanoma,gastric adenocarcinoma,ovarian serous cystadenocarcinoma,esophageal carcinoma,chronic lymphocytic leukemia 26619011 ENST00000281708:c.1436G>A 4 153247366 153247366 C T GRCh37 FBXW7 missense p.R479Q colorectal cancer,uterine carcinosarcoma,gastric adenocarcinoma,head and neck squamous cell carcinoma,cervix carcinoma,lung squamous cell carcinoma,uterine corpus endometrial carcinoma,skin melanoma,papillary renal cell carcinoma,glioblastoma multiforme,breast cancer,urinary bladder urothelial carcinoma 26619011 ENST00000281708:c.1436G>C 4 153247366 153247366 C G GRCh37 FBXW7 missense p.R479P colorectal cancer,uterine carcinosarcoma,gastric adenocarcinoma,head and neck squamous cell carcinoma,cervix carcinoma,lung squamous cell carcinoma,uterine corpus endometrial carcinoma,skin melanoma,papillary renal cell carcinoma,glioblastoma multiforme,breast cancer,urinary bladder urothelial carcinoma 26619011 ENST00000281708:c.1436G>T 4 153247366 153247366 C A GRCh37 FBXW7 missense p.R479L colorectal cancer,uterine carcinosarcoma,gastric adenocarcinoma,head and neck squamous cell carcinoma,cervix carcinoma,lung squamous cell carcinoma,uterine corpus endometrial carcinoma,skin melanoma,papillary renal cell carcinoma,glioblastoma multiforme,breast cancer,urinary bladder urothelial carcinoma 26619011 ENST00000281708:c.1435C>G 4 153247367 153247367 G C GRCh37 FBXW7 missense p.R479G colorectal cancer,uterine carcinosarcoma,gastric adenocarcinoma,head and neck squamous cell carcinoma,cervix carcinoma,lung squamous cell carcinoma,uterine corpus endometrial carcinoma,skin melanoma,papillary renal cell carcinoma,glioblastoma multiforme,breast cancer,urinary bladder urothelial carcinoma 26619011 ENST00000281708:c.1394G>A 4 153249384 153249384 C T GRCh37 FBXW7 missense p.R465H colorectal cancer,gastric adenocarcinoma,uterine carcinosarcoma,uterine corpus endometrial carcinoma,cervix carcinoma,head and neck squamous cell carcinoma,breast cancer,ovarian serous cystadenocarcinoma,medulloblastoma,lung squamous cell carcinoma,lung adenocarcinoma,esophageal carcinoma,chronic lymphocytic leukemia,salivary gland adenoid cystic carcinoma 26619011 ENST00000281708:c.1394G>C 4 153249384 153249384 C G GRCh37 FBXW7 missense p.R465P colorectal cancer,gastric adenocarcinoma,uterine carcinosarcoma,uterine corpus endometrial carcinoma,cervix carcinoma,head and neck squamous cell carcinoma,breast cancer,ovarian serous cystadenocarcinoma,medulloblastoma,lung squamous cell carcinoma,lung adenocarcinoma,esophageal carcinoma,chronic lymphocytic leukemia,salivary gland adenoid cystic carcinoma 26619011 ENST00000281708:c.1394G>T 4 153249384 153249384 C A GRCh37 FBXW7 missense p.R465L colorectal cancer,gastric adenocarcinoma,uterine carcinosarcoma,uterine corpus endometrial carcinoma,cervix carcinoma,head and neck squamous cell carcinoma,breast cancer,ovarian serous cystadenocarcinoma,medulloblastoma,lung squamous cell carcinoma,lung adenocarcinoma,esophageal carcinoma,chronic lymphocytic leukemia,salivary gland adenoid cystic carcinoma 26619011 ENST00000281708:c.1393C>T 4 153249385 153249385 G A GRCh37 FBXW7 missense p.R465C colorectal cancer,gastric adenocarcinoma,uterine carcinosarcoma,uterine corpus endometrial carcinoma,cervix carcinoma,head and neck squamous cell carcinoma,breast cancer,ovarian serous cystadenocarcinoma,medulloblastoma,lung squamous cell carcinoma,lung adenocarcinoma,esophageal carcinoma,chronic lymphocytic leukemia,salivary gland adenoid cystic carcinoma 26619011 ENST00000281708:c.1393C>G 4 153249385 153249385 G C GRCh37 FBXW7 missense p.R465G colorectal cancer,gastric adenocarcinoma,uterine carcinosarcoma,uterine corpus endometrial carcinoma,cervix carcinoma,head and neck squamous cell carcinoma,breast cancer,ovarian serous cystadenocarcinoma,medulloblastoma,lung squamous cell carcinoma,lung adenocarcinoma,esophageal carcinoma,chronic lymphocytic leukemia,salivary gland adenoid cystic carcinoma 26619011 ENST00000303115:c.553A>T 5 35873597 35873597 A T GRCh37 IL7R missense p.S185C acute lymphocytic leukemia 22897847,22955920 ENST00000396611:c.1126G>A 5 67589138 67589138 G A GRCh37 PIK3R1 missense p.G376R cancer 19962457,25157968 ENST00000396611:c.1126G>C 5 67589138 67589138 G C GRCh37 PIK3R1 missense p.G376R cancer 19962457,25157968 ENST00000521381:c.1126G>C 5 67589138 67589138 G C GRCh37 PIK3R1 missense p.G376R glioblastoma multiforme,brain glioma,uterine carcinosarcoma,skin melanoma 26619011 ENST00000396611:c.1315delGAA 5 67589552 67589552 GAA - GRCh37 PIK3R1 frameshift p.E439X cancer 25157968 ENST00000396611:c.1381C>T 5 67589618 67589618 C T GRCh37 PIK3R1 stop_lost p.R461* cancer 25157968 ENST00000396611:c.1678G>T 5 67591085 67591085 G T GRCh37 PIK3R1 missense p.D560Y cancer 25157968 ENST00000396611:c.1678delGACAAACGTATGAACAGC 5 67591085 67591102 GACAAACGTATGAACAGC - GRCh37 PIK3R1 inframe p.DKRMNS560- cancer 25157968 ENST00000396611:c.1690A>G 5 67591097 67591097 A G GRCh37 PIK3R1 missense p.N564D cancer 25157968 ENST00000274335:c.1690A>G 5 67591097 67591097 A G GRCh37 PIK3R1 missense p.N564D brain glioma,colorectal cancer,uterine corpus endometrial carcinoma,skin melanoma 26619011 ENST00000396611:c.1692C>A 5 67591099 67591099 C A GRCh37 PIK3R1 missense p.N564K cancer 24459181,25157968 ENST00000396611:c.1692C>G 5 67591099 67591099 C G GRCh37 PIK3R1 missense p.N564K cancer 24459181,25157968 ENST00000396611:c.1726delACG 5 67591133 67591135 ACG - GRCh37 PIK3R1 inframe p.T576- cancer 25157968 ENST00000396611:c.1747delTGG 5 67591249 67591249 TGG - GRCh37 PIK3R1 frameshift p.W583X cancer 25157968 ENST00000257430:c.2626C>T 5 112173917 112173917 C T GRCh37 APC stop_lost p.R876* colorectal cancer 1528264,24651453,8187091,25157968 ENST00000257430:c.3340C>T 5 112174631 112174631 C T GRCh37 APC stop_lost p.R1114* lung adenocarcinoma,colorectal cancer 18948947,21901162,2281069,23700467,8187091,25157968 ENST00000257430:c.3916G>T 5 112175207 112175207 G T GRCh37 APC stop_lost p.E1306* colorectal cancer 1528264,24861525,8187091,25157968 ENST00000257430:c.3928delAAGATTGGAAC 5 112175219 112175229 AAGATTGGAAC - GRCh37 APC frameshift p.KIGT1310X cancer 25157968 ENST00000257430:c.3928delAAGATTGGAACTAGGTCAGC 5 112175219 112175238 AAGATTGGAACTAGGTCAGC - GRCh37 APC frameshift p.KIGTRSA1310X cancer 25157968 ENST00000257430:c.4012C>T 5 112175303 112175303 C T GRCh37 APC stop_lost p.Q1338* colorectal cancer 10737795,1338904,1528264,22810696,23204322,24861525,8187091,25157968 ENST00000257430:c.4099C>T 5 112175390 112175390 C T GRCh37 APC stop_lost p.Q1367* colorectal cancer 10737795,1338904,1528264,22810696,24518971,24861525,25157968 ENST00000257430:c.4132C>T 5 112175423 112175423 C T GRCh37 APC stop_lost p.Q1378* colorectal cancer 17704924,18992635,23700467,8187091,25157968 ENST00000257430:c.4135G>T 5 112175426 112175426 G T GRCh37 APC stop_lost p.E1379* colorectal cancer 1528264,22810696,24861525,8187091,25157968 ENST00000257430:c.4285C>T 5 112175576 112175576 C T GRCh37 APC stop_lost p.Q1429* colorectal cancer 10737795,12374230,1528264,22810696,22848674,8187091,25157968 ENST00000257430:c.4348C>T 5 112175639 112175639 C T GRCh37 APC stop_lost p.R1450* colorectal cancer 10737795,12374230,1338904,1528264,18992635,21901162,22810696,23204322,23700467,24861525,8187091,25157968 ENST00000257430:c.4396delGGACC 5 112175687 112175691 GGACC - GRCh37 APC frameshift p.GP1466X cancer 25157968 ENST00000257430:c.4669delATTGATTC 5 112175960 112175967 ATTGATTC - GRCh37 APC frameshift p.IDS1557X cancer 25157968 ENST00000286301:c.2907T>G 5 149433644 149433644 A C GRCh37 CSF1R stop_lost p.Y969* cancer 25157968 ENST00000286301:c.2907T>A 5 149433644 149433644 A T GRCh37 CSF1R stop_lost p.Y969* cancer 25157968 ENST00000286301:c.2906A>T 5 149433645 149433645 T A GRCh37 CSF1R missense p.Y969F cancer,hematologic cancer 25157968,2406720 ENST00000286301:c.2906A>G 5 149433645 149433645 T C GRCh37 CSF1R missense p.Y969C cancer,hematologic cancer 25157968,2406720 ENST00000286301:c.2905T>C 5 149433646 149433646 A G GRCh37 CSF1R missense p.Y969H cancer,hematologic cancer 25157968,2406720 ENST00000286301:c.1711T>G 5 149441328 149441328 A C GRCh37 CSF1R missense p.Y571D hematologic cancer,bone marrow cancer 18971950 ENST00000286301:c.903G>T 5 149453043 149453043 C A GRCh37 CSF1R missense p.L301F hematologic cancer 2406720 ENST00000286301:c.902T>C 5 149453044 149453044 A G GRCh37 CSF1R missense p.L301S cancer,hematologic cancer 25157968,2406720 ENST00000286301:c.902T>A 5 149453044 149453044 A T GRCh37 CSF1R stop_lost p.L301* cancer 25157968 ENST00000296930:c.862insCATG 5 170837546 170837547 - CATG GRCh37 NPM1 frameshift p.W288HX acute myeloid leukemia 19657110 ENST00000296930:c.862insCCTG 5 170837546 170837547 - CCTG GRCh37 NPM1 frameshift p.W288PX acute myeloid leukemia 19657110 ENST00000296930:c.862insTCAG 5 170837546 170837547 - TCAG GRCh37 NPM1 frameshift p.W288SX acute myeloid leukemia 19657110 ENST00000296930:c.862insTCTG 5 170837546 170837547 - TCTG GRCh37 NPM1 frameshift p.W288SX acute myeloid leukemia 19657110 ENST00000292408:c.1100A>G 5 176520181 176520181 A G GRCh37 FGFR4 missense p.Y367C breast cancer 19946327 ENST00000292408:c.1605C>A 5 176522416 176522416 C A GRCh37 FGFR4 missense p.N535K rhabdomyosarcoma 24124571 ENST00000292408:c.1605C>G 5 176522416 176522416 C G GRCh37 FGFR4 missense p.N535K rhabdomyosarcoma 24124571 ENST00000292408:c.1649T>A 5 176522552 176522552 T A GRCh37 FGFR4 missense p.V550E rhabdomyosarcoma 24124571,19809159 ENST00000328488:c.83A>T 6 27840011 27840011 T A GRCh37 HIST1H3I missense p.K28M brain stem glioma,head and neck squamous cell carcinoma 26619011 ENST00000328488:c.82A>G 6 27840012 27840012 T C GRCh37 HIST1H3I missense p.K28E brain stem glioma,head and neck squamous cell carcinoma 26619011 ENST00000375331:c.265G>A 6 31940123 31940123 G A GRCh37 STK19 missense p.D89N skin melanoma,skin squamous cell carcinoma 26619011 ENST00000369798:c.2089G>T 6 80747723 80747723 G T GRCh37 TTK missense p.D697Y pancreatic cancer 20581473 ENST00000368508:c.6464T>C 6 117630062 117630062 A G GRCh37 ROS1 missense p.L2155S non-small cell lung carcinoma 25688157 ENST00000368508:c.6302G>C 6 117631376 117631376 C G GRCh37 ROS1 missense p.G2101A non-small cell lung carcinoma 25688157 ENST00000368508:c.6094G>A 6 117638347 117638347 C T GRCh37 ROS1 missense p.G2032R non-small cell lung carcinoma,lung adenocarcinoma 25351743,25733882,26372962,25688157,23724914 ENST00000368508:c.6076C>A 6 117638365 117638365 G T GRCh37 ROS1 missense p.L2026M non-small cell lung carcinoma 25688157 ENST00000206249:c.1138G>C 6 152332832 152332832 G C GRCh37 ESR1 missense p.E380Q breast cancer 24185512,24185510,24398047 ENST00000206249:c.1387T>C 6 152415537 152415537 T C GRCh37 ESR1 missense p.S463P progesterone-receptor positive breast cancer 24185512 ENST00000206249:c.1601T>A 6 152419914 152419914 T A GRCh37 ESR1 missense p.V534E progesterone-receptor positive breast cancer 24185512 ENST00000206249:c.1604C>A 6 152419917 152419917 C A GRCh37 ESR1 missense p.P535H progesterone-receptor positive breast cancer 24185512 ENST00000206249:c.1607T>G 6 152419920 152419920 T G GRCh37 ESR1 missense p.L536R progesterone-receptor positive breast cancer 24185510,24185512 ENST00000206249:c.1609T>A 6 152419922 152419922 T A GRCh37 ESR1 missense p.Y537N progesterone-receptor positive breast cancer,breast cancer 24185512,24398047,24185510 ENST00000206249:c.1610A>C 6 152419923 152419923 A C GRCh37 ESR1 missense p.Y537S progesterone-receptor positive breast cancer,breast cancer 24185510,24185512,24398047 ENST00000206249:c.1610A>G 6 152419923 152419923 A G GRCh37 ESR1 missense p.Y537C progesterone-receptor positive breast cancer,breast cancer 24185512,24398047,24185510 ENST00000206249:c.1613A>G 6 152419926 152419926 A G GRCh37 ESR1 missense p.D538G progesterone-receptor positive breast cancer,breast cancer 24185510,24185512,24217577,24398047 ENST00000356142:c.85C>T 7 6426892 6426892 C T GRCh37 RAC1 missense p.P29S melanoma 25056119 ENST00000348035:c.85C>T 7 6426892 6426892 C T GRCh37 RAC1 missense p.P29S skin melanoma,head and neck squamous cell carcinoma,uterine corpus endometrial carcinoma,skin squamous cell carcinoma 26619011 ENST00000348035:c.85C>A 7 6426892 6426892 C A GRCh37 RAC1 missense p.P29T skin melanoma,head and neck squamous cell carcinoma,uterine corpus endometrial carcinoma,skin squamous cell carcinoma 26619011 ENST00000356142:c.86C>T 7 6426893 6426893 C T GRCh37 RAC1 missense p.P29L skin melanoma,head and neck squamous cell carcinoma,uterine corpus endometrial carcinoma,skin squamous cell carcinoma 26619011 ENST00000275493:c.322A>G 7 55211079 55211079 A G GRCh37 EGFR missense p.R108G glioblastoma multiforme,brain glioma,brain stem glioma 26619011 ENST00000275493:c.323G>A 7 55211080 55211080 G A GRCh37 EGFR missense p.R108K brain cancer 17177598 ENST00000442591:c.323G>A 7 55211080 55211080 G A GRCh37 EGFR missense p.R108K glioblastoma multiforme,brain glioma,brain stem glioma 26619011 ENST00000275493:c.787A>C 7 55221743 55221743 A C GRCh37 EGFR missense p.T263P brain cancer 17177598 ENST00000342916:c.865G>A 7 55221821 55221821 G A GRCh37 EGFR missense p.A289T glioblastoma multiforme,brain glioma,head and neck squamous cell carcinoma 26619011 ENST00000342916:c.865GC>AA 7 55221821 55221822 GC AA GRCh37 EGFR missense p.A289N glioblastoma multiforme,brain glioma,head and neck squamous cell carcinoma 26619011 ENST00000342916:c.865GC>AT 7 55221821 55221822 GC AT GRCh37 EGFR missense p.A289I glioblastoma multiforme,brain glioma,head and neck squamous cell carcinoma 26619011 ENST00000275493:c.866C>T 7 55221822 55221822 C T GRCh37 EGFR missense p.A289V brain cancer 17177598 ENST00000342916:c.866C>T 7 55221822 55221822 C T GRCh37 EGFR missense p.A289V glioblastoma multiforme,brain glioma,head and neck squamous cell carcinoma 26619011 ENST00000342916:c.866C>A 7 55221822 55221822 C A GRCh37 EGFR missense p.A289D glioblastoma multiforme,brain glioma,head and neck squamous cell carcinoma 26619011 ENST00000275493:c.1351C>T 7 55227884 55227884 C T GRCh37 EGFR missense p.R451C colorectal cancer 26888827 ENST00000275493:c.1393G>A 7 55227926 55227926 G A GRCh37 EGFR missense p.G465R colorectal cancer 26888827 ENST00000275493:c.1474A>G 7 55228007 55228007 A G GRCh37 EGFR missense p.S492G colorectal cancer 22270724 ENST00000275493:c.1476C>A 7 55228009 55228009 C A GRCh37 EGFR missense p.S492R colorectal cancer 26888827,22270724 ENST00000275493:c.1636C>T 7 55231430 55231430 C T GRCh37 EGFR missense p.P546S head and neck cancer 23578570 ENST00000275493:c.1793G>T 7 55233043 55233043 G T GRCh37 EGFR missense p.G598V brain cancer 17177598 ENST00000342916:c.1793G>T 7 55233043 55233043 G T GRCh37 EGFR missense p.G598V glioblastoma multiforme,brain glioma,brain stem glioma 26619011 ENST00000342916:c.1793G>C 7 55233043 55233043 G C GRCh37 EGFR missense p.G598A glioblastoma multiforme,brain glioma,brain stem glioma 26619011 ENST00000275493:c.2068G>A 7 55241620 55241620 G A GRCh37 EGFR missense p.E690K endometrial adenocarcinoma 22885469 ENST00000275493:c.2155G>A 7 55241707 55241707 G A GRCh37 EGFR missense p.G719S non-small cell lung carcinoma,colorectal cancer 15118073,15329413,15710947,16011858,16115929,19922469,20479403,22753918,23102728,16187797,16204070,25157968,24894453,15118125 ENST00000275493:c.2155G>T 7 55241707 55241707 G T GRCh37 EGFR missense p.G719C non-small cell lung carcinoma,lung adenocarcinoma,glioblastoma multiforme 15118073,15118125,15329413,15710947,16011858,16115929,19922469,20479403,22753918,23102728,18199554,19671738,25157968,26619011 ENST00000275493:c.2156G>C 7 55241708 55241708 G C GRCh37 EGFR missense p.G719A non-small cell lung carcinoma,lung adenocarcinoma,glioblastoma multiforme 15118073,15118125,15329413,15710947,16011858,16115929,19922469,20479403,22753918,23102728,18458038,2302402,23242437,25157968,26619011 ENST00000275493:c.2156G>A 7 55241708 55241708 G A GRCh37 EGFR missense p.G719D non-small cell lung carcinoma,lung squamous cell carcinoma,lung adenocarcinoma,glioblastoma multiforme 23945392,22753918,23102728,25157968,26619011 ENST00000275493:c.2170G>A 7 55241722 55241722 G A GRCh37 EGFR missense p.G724S colorectal cancer 24894453 ENST00000275493:c.2193G>A 7 55242423 55242423 G A GRCh37 EGFR stop_lost p.W731* non-small cell lung carcinoma 25157968 ENST00000275493:c.2198C>T 7 55242428 55242428 C T GRCh37 EGFR missense p.P733L non-small cell lung carcinoma,esophagus squamous cell carcinoma 23485129,25157968 ENST00000275493:c.2200G>A 7 55242430 55242430 G A GRCh37 EGFR missense p.E734K non-small cell lung carcinoma 19455431,25157968 ENST00000275493:c.2203G>A 7 55242433 55242433 G A GRCh37 EGFR missense p.G735S non-small cell lung carcinoma,prostate cancer 23485129,25157968 ENST00000275493:c.2225T>C 7 55242455 55242455 T C GRCh37 EGFR missense p.V742A non-small cell lung carcinoma 19147750,25157968 ENST00000275493:c.2234A>G 7 55242464 55242464 A G GRCh37 EGFR missense p.K745R head and neck squamous cell carcinoma 20415598,21531084,25157968 ENST00000275493:c.2236G>A 7 55242466 55242466 G A GRCh37 EGFR missense p.E746K non-small cell lung carcinoma 25157968 ENST00000275493:c.2240T>C 7 55242470 55242470 T C GRCh37 EGFR missense p.L747S lung squamous cell carcinoma,lung cancer 22753918,23102728,16043828 ENST00000275493:c.2245G>C 7 55242475 55242475 G C GRCh37 EGFR missense p.E749Q lung cancer 16043828 ENST00000275493:c.2248G>C 7 55242478 55242478 G C GRCh37 EGFR missense p.A750P non-small cell lung carcinoma,lung adenocarcinoma 22622260,15737014,25157968 ENST00000275493:c.2255C>A 7 55242485 55242485 C A GRCh37 EGFR missense p.S752Y non-small cell lung carcinoma 25157968 ENST00000275493:c.2257C>T 7 55242487 55242487 C T GRCh37 EGFR missense p.P753S non-small cell lung carcinoma,head and neck cancer,skin squamous cell carcinoma 18089823,24934779,25157968 ENST00000275493:c.2281G>A 7 55242511 55242511 G A GRCh37 EGFR missense p.D761N non-small cell lung carcinoma 19147750,23800712,25157968 ENST00000275493:c.2281G>T 7 55242511 55242511 G T GRCh37 EGFR missense p.D761Y non-small cell lung carcinoma 16730855,17545553,25157968 ENST00000275493:c.2303G>T 7 55249005 55249005 G T GRCh37 EGFR missense p.S768I esophageal carcinoma,non-small cell lung carcinoma,lung squamous cell carcinoma 16707764,17653080,19147750,22753918,23102728,25157968 ENST00000275493:c.2318A>G 7 55249020 55249020 A G GRCh37 EGFR missense p.H773R non-small cell lung carcinoma 18628075,25157968 ENST00000275493:c.2369C>T 7 55249071 55249071 C T GRCh37 EGFR missense p.T790M non-small cell lung carcinoma,lung cancer 15118073,15118125,15329413,15737014,16258541,16912157,20068085,21194487,21531810,22452896,22588155,23102728,23816963,20033049,21233402,22215752,25157968,24065731,18227510,24636847,25923550,25668228,24623981,24658966,24893891,26515464,26720284,17332364,25923549,15728811,21430269,24729716 ENST00000275493:c.2389T>A 7 55249091 55249091 T A GRCh37 EGFR missense p.C797S non-small cell lung carcinoma 25939061 ENST00000275493:c.2428G>A 7 55249130 55249130 G A GRCh37 EGFR missense p.G810S tongue squamous cell carcinoma 25157968 ENST00000275493:c.2429G>A 7 55249131 55249131 G A GRCh37 EGFR missense p.G810D tongue squamous cell carcinoma 25157968 ENST00000275493:c.2527G>A 7 55259469 55259469 G A GRCh37 EGFR missense p.V843I head and neck cancer 21274259 ENST00000275493:c.2572C>A 7 55259514 55259514 C A GRCh37 EGFR missense p.L858M non-small cell lung carcinoma 19455431,21718596,25157968 ENST00000275493:c.2572CT>AG 7 55259514 55259515 CT AG GRCh37 EGFR missense p.L858R non-small cell lung carcinoma 25157968 ENST00000275493:c.2573T>G 7 55259515 55259515 T G GRCh37 EGFR missense p.L858R non-small cell lung carcinoma,lung adenocarcinoma 15118073,15118125,15329413,18303429,19096302,19692680,19692684,19922469,20022809,20479403,20573926,21670455,21783417,22285168,22452895,22753918,23102728,23816960,23948351,16204070,19455431,25157968,26619011 ENST00000275493:c.2573T>A 7 55259515 55259515 T A GRCh37 EGFR missense p.L858Q non-small cell lung carcinoma 25157968 ENST00000275493:c.2573TG>GT 7 55259515 55259516 TG GT GRCh37 EGFR missense p.L858R non-small cell lung carcinoma 25157968 ENST00000275493:c.2582T>A 7 55259524 55259524 T A GRCh37 EGFR missense p.L861Q non-small cell lung carcinoma,lung adenocarcinoma,lung squamous cell carcinoma 15118073,15118125,15329413,19922469,22753918,23102728,26619011 ENST00000275493:c.2582T>C 7 55259524 55259524 T C GRCh37 EGFR missense p.L861P lung squamous cell carcinoma 22753918,23102728 ENST00000275493:c.2582T>G 7 55259524 55259524 T G GRCh37 EGFR missense p.L861R lung squamous cell carcinoma 22753918,23102728 ENST00000265724:c.3435T>C 7 87138645 87138645 A G GRCh37 ABCB1 synonymous p.I1145 non-small cell lung carcinoma,breast cancer 22296372,22906996 ENST00000265724:c.2677T>A 7 87160618 87160618 A T GRCh37 ABCB1 missense p.S893T ovarian cancer 16467099 ENST00000265724:c.2677T>G 7 87160618 87160618 A C GRCh37 ABCB1 missense p.S893A breast cancer 22906996 ENST00000318493:c.2962C>T 7 116411923 116411923 C T GRCh37 MET missense p.R988C cancer 17483355 ENST00000318493:c.3029C>T 7 116411990 116411990 C T GRCh37 MET missense p.T1010I cancer,carcinoma 17483355,1104268 ENST00000318493:c.3328G>A 7 116417457 116417457 G A GRCh37 MET missense p.V1110I cancer,carcinoma 17483355,10417759 ENST00000318493:c.3334C>T 7 116417463 116417463 C T GRCh37 MET missense p.H1112Y renal carcinoma 18829470,25157968 ENST00000318493:c.3335A>G 7 116417464 116417464 A G GRCh37 MET missense p.H1112R renal carcinoma 23213094,25157968 ENST00000318493:c.3352A>T 7 116417481 116417481 A T GRCh37 MET missense p.N1118Y carcinoma 12460923 ENST00000318493:c.3736G>C 7 116423407 116423407 G C GRCh37 MET missense p.D1246H carcinoma 9826708 ENST00000397752:c.3682G>A 7 116423407 116423407 G A GRCh37 MET missense p.D1228N carcinoma 9826708 ENST00000318493:c.3742T>C 7 116423413 116423413 T C GRCh37 MET missense p.Y1248H renal carcinoma,carcinoma 11750879,24121490,25157968,9826708 ENST00000318493:c.3743A>G 7 116423414 116423414 A G GRCh37 MET missense p.Y1248C renal carcinoma,cancer,carcinoma 11750879,17483355,25157968,9826708 ENST00000318493:c.3757T>G 7 116423428 116423428 T G GRCh37 MET missense p.Y1253D cancer,carcinoma 17483355,12460923 ENST00000318493:c.3803T>C 7 116423474 116423474 T C GRCh37 MET missense p.M1268T renal carcinoma,carcinoma 23610116,25157968,9826708 ENST00000318493:c.3804G>A 7 116423475 116423475 G A GRCh37 MET missense p.M1268I cancer 17483355 ENST00000318493:c.3804G>C 7 116423475 116423475 G C GRCh37 MET missense p.M1268I cancer 17483355 ENST00000318493:c.3804G>T 7 116423475 116423475 G T GRCh37 MET missense p.M1268I cancer 17483355 ENST00000249373:c.1417G>C 7 128849189 128849189 G C GRCh37 SMO missense p.D473H basal cell carcinoma,medulloblastoma 19726788,22679179,25759020,22550175 ENST00000288602:c.1814G>A 7 140453121 140453121 C T GRCh37 BRAF missense p.S605N melanoma 25157968 ENST00000288602:c.1813AG>TT 7 140453121 140453122 CT AA GRCh37 BRAF missense p.S605F melanoma 25157968 ENST00000288602:c.1803A>T 7 140453132 140453132 T A GRCh37 BRAF missense p.K601N melanoma 25157968 ENST00000288602:c.1803A>C 7 140453132 140453132 T G GRCh37 BRAF missense p.K601N melanoma,skin melanoma,lung adenocarcinoma,gastric adenocarcinoma,uterine corpus endometrial carcinoma,thyroid carcinoma,prostate adenocarcinoma,chronic lymphocytic leukemia 25157968,26619011 ENST00000288602:c.1801delAAA 7 140453132 140453134 TTT - GRCh37 BRAF inframe p.K601- melanoma 25157968 ENST00000288602:c.1802A>G 7 140453133 140453133 T C GRCh37 BRAF missense p.K601R melanoma 23248257 ENST00000288602:c.1802A>C 7 140453133 140453133 T G GRCh37 BRAF missense p.K601T skin melanoma,lung adenocarcinoma,gastric adenocarcinoma,uterine corpus endometrial carcinoma,thyroid carcinoma,prostate adenocarcinoma,chronic lymphocytic leukemia 26619011 ENST00000288602:c.1801A>G 7 140453134 140453134 T C GRCh37 BRAF missense p.K601E melanoma,skin melanoma,lung adenocarcinoma,gastric adenocarcinoma,uterine corpus endometrial carcinoma,thyroid carcinoma,prostate adenocarcinoma,chronic lymphocytic leukemia,cancer 12068308,14679157,21639808,22048237,22663011,22972589,25157968,26619011,15035987 ENST00000288602:c.1799TG>AT 7 140453135 140453136 CA AT GRCh37 BRAF missense p.V600D melanoma 21639808,22048237,22356324,22608338,22663011,22735384,22805292,22972589,12068308,14679157,20551065,20630094,20818844,23020132,23317446,25157968 ENST00000288602:c.1799TG>AA 7 140453135 140453136 CA TT GRCh37 BRAF missense p.V600E melanoma,colon cancer 21639808,23031422,23918947,24508103,22281684,25157968 ENST00000288602:c.1799T>G 7 140453136 140453136 A C GRCh37 BRAF missense p.V600G melanoma 22972589,23020132,12068308,14679157,20818844,21639808,22048237,22356324,22608338,22663011,22735384,22805292 ENST00000288602:c.1799T>A 7 140453136 140453136 A T GRCh37 BRAF missense p.V600E ovarian cancer,colorectal cancer,gastrointestinal stromal tumor,melanoma,thyroid cancer,lung cancer,colon cancer,brain cancer,myeloma,papillary thyroid carcinoma,non-small cell lung carcinoma,skin melanoma,thyroid carcinoma,lung adenocarcinoma,glioblastoma multiforme,multiple myeloma,brain stem glioma,brain glioma,papillary renal cell carcinoma,head and neck squamous cell carcinoma,cancer,hairy cell leukemia 21975775,12068308,12460918,12460919,14679157,18541894,19010912,19018267,19238210,19255327,19404918,19537845,19561230,19773371,20350999,20368568,20413299,20630094,20818844,20857202,21129611,21156289,21163703,21426297,21483012,21639808,21683865,22048237,22241789,22281684,22351686,22356324,22389471,22448344,22608338,22536370,22649091,22663011,22735384,22743296,22773810,22805292,22972589,22997239,23020132,23251002,23325582,23406027,23470635,23489023,23524406,23549875,23614898,23833300,24107445,24163374,23031422,23918947,24508103,22038996,22586120,23612012,25157968,24586605,24354346,24594804,24388723,24396464,24583796,25024077,25370471,25989278,19001320,23845441,23812671,24570209,26678033,26619011,15035987,23934108,21663470,21594703,24576830,20619739,22180495 ENST00000288602:c.1798GT>AG 7 140453136 140453137 AC CT GRCh37 BRAF missense p.V600R melanoma 20551065,20818844,21639808,22048237,22356324,22608338,22663011,22735384,22805292,22972589,23020132,23237741,23248257,12068308,14679157,23317446,25157968 ENST00000288602:c.1798GT>AA 7 140453136 140453137 AC TT GRCh37 BRAF missense p.V600K melanoma 12068308,14679157,20630094,20818844,21639808,22048237,22356324,22536370,22608338,22663011,22735384,22805292,22972589,25656898,23918947,24508103,25157968 ENST00000288602:c.1799T>C 7 140453136 140453136 A G GRCh37 BRAF missense p.V600A melanoma 25157968 ENST00000288602:c.1798G>A 7 140453137 140453137 C T GRCh37 BRAF missense p.V600M melanoma 12068308,12460918,12460919,19010912,19238210,21483012,22649091,22743296,23524406,23833300,23031422,25157968 ENST00000288602:c.1798G>T 7 140453137 140453137 C A GRCh37 BRAF missense p.V600L melanoma 19404918,21750866,25157968 ENST00000288602:c.1798G>C 7 140453137 140453137 C G GRCh37 BRAF missense p.V600L melanoma 25157968 ENST00000496384:c.620C>T 7 140453139 140453139 G A GRCh37 BRAF missense p.T207I melanoma 25157968 ENST00000288602:c.1796C>T 7 140453139 140453139 G A GRCh37 BRAF missense p.T599I cancer 15035987 ENST00000288602:c.1790T>G 7 140453145 140453145 A C GRCh37 BRAF missense p.L597R ovarian cancer,melanoma,skin melanoma,prostate adenocarcinoma,multiple myeloma 12068308,12460918,12460919,19010912,19238210,21483012,21683865,21975775,22649091,22798288,22805292,23833300,25157968,26619011,23715574 ENST00000288602:c.1790T>A 7 140453145 140453145 A T GRCh37 BRAF missense p.L597Q melanoma,skin melanoma,prostate adenocarcinoma,multiple myeloma 12068308,12460918,12460919,19010912,19238210,21483012,22649091,22798288,22805292,23715574,23833300,2493360,25157968,26619011 ENST00000288602:c.1789CT>TC 7 140453145 140453146 AG GA GRCh37 BRAF missense p.L597S melanoma 12068308,12460918,12460919,19010912,19238210,21483012,22649091,22798288,22805292,23715574,23833300,25157968 ENST00000288602:c.1789C>G 7 140453146 140453146 G C GRCh37 BRAF missense p.L597V melanoma,lung cancer,cancer 12068308,12460918,12460919,19010912,19238210,21483012,22649091,22798288,22805292,23715574,23833300,25157968,15035987 ENST00000288602:c.1787G>T 7 140453148 140453148 C A GRCh37 BRAF missense p.G596V lung adenocarcinoma,multiple myeloma,glioblastoma multiforme,urinary bladder urothelial carcinoma 26619011 ENST00000288602:c.1787G>A 7 140453148 140453148 C T GRCh37 BRAF missense p.G596D lung adenocarcinoma,multiple myeloma,glioblastoma multiforme,urinary bladder urothelial carcinoma 26619011 ENST00000288602:c.1786G>C 7 140453149 140453149 C G GRCh37 BRAF missense p.G596R colorectal cancer,melanoma,lung adenocarcinoma,multiple myeloma,glioblastoma multiforme,urinary bladder urothelial carcinoma 12068308,19537845,20350999,21129611,22310681,22180495,25157968,26619011 ENST00000288602:c.1786G>A 7 140453149 140453149 C T GRCh37 BRAF missense p.G596S lung adenocarcinoma,multiple myeloma,glioblastoma multiforme,urinary bladder urothelial carcinoma 26619011 ENST00000288602:c.1785T>G 7 140453150 140453150 A C GRCh37 BRAF missense p.F595L melanoma,cancer 25157968,15035987 ENST00000496384:c.609T>A 7 140453150 140453150 A T GRCh37 BRAF missense p.F203L melanoma 25157968 ENST00000288602:c.1784T>C 7 140453151 140453151 A G GRCh37 BRAF missense p.F595S melanoma 25157968 ENST00000288602:c.1783T>C 7 140453152 140453152 A G GRCh37 BRAF missense p.F595L melanoma 25157968 ENST00000288602:c.1782T>G 7 140453153 140453153 A C GRCh37 BRAF missense p.D594E melanoma 12068308,14679157 ENST00000288602:c.1782T>A 7 140453153 140453153 A T GRCh37 BRAF missense p.D594E melanoma 12068308,14679157,25157968 ENST00000288602:c.1781A>T 7 140453154 140453154 T A GRCh37 BRAF missense p.D594V colorectal cancer,melanoma 21129611,22310681,12068308,12438234,14678966,14679157,15035987,19537845,20350999,25157968 ENST00000288602:c.1781A>G 7 140453154 140453154 T C GRCh37 BRAF missense p.D594G colorectal cancer,melanoma,multiple myeloma,skin melanoma,lung adenocarcinoma,brain glioma,head and neck squamous cell carcinoma,chronic lymphocytic leukemia,urinary bladder urothelial carcinoma,adrenocortical carcinoma 12068308,19537845,20350999,20619739,21129611,22310681,14679157,18794803,25157968,26619011 ENST00000288602:c.1781A>C 7 140453154 140453154 T G GRCh37 BRAF missense p.D594A melanoma 2872605 ENST00000288602:c.1780G>A 7 140453155 140453155 C T GRCh37 BRAF missense p.D594N melanoma,lung adenocarcinoma,multiple myeloma,skin melanoma,brain glioma,head and neck squamous cell carcinoma,colorectal cancer,chronic lymphocytic leukemia,urinary bladder urothelial carcinoma,adrenocortical carcinoma 12068308,14679157,26619011 ENST00000288602:c.1779TG>GA 7 140453155 140453156 CA TC GRCh37 BRAF missense p.GD593GN melanoma 12068308,14679157,20141835 ENST00000288602:c.1780G>C 7 140453155 140453155 C G GRCh37 BRAF missense p.D594H melanoma,lung adenocarcinoma,multiple myeloma,skin melanoma,brain glioma,head and neck squamous cell carcinoma,colorectal cancer,chronic lymphocytic leukemia,urinary bladder urothelial carcinoma,adrenocortical carcinoma 12068308,14679157,26619011 ENST00000288602:c.1776A>G 7 140453159 140453159 T C GRCh37 BRAF missense p.I592M cancer 25157968 ENST00000288602:c.1774A>G 7 140453161 140453161 T C GRCh37 BRAF missense p.I592V melanoma 24710085,25157968 ENST00000288602:c.1761C>G 7 140453174 140453174 G C GRCh37 BRAF missense p.D587E cancer 25157968 ENST00000288602:c.1761C>A 7 140453174 140453174 G T GRCh37 BRAF missense p.D587E cancer 25157968 ENST00000288602:c.1760A>C 7 140453175 140453175 T G GRCh37 BRAF missense p.D587A cancer 25157968 ENST00000288602:c.1756G>A 7 140453179 140453179 C T GRCh37 BRAF missense p.E586K melanoma,cancer 20130576,24926260,25157968,15035987 ENST00000288602:c.1742A>G 7 140453193 140453193 T C GRCh37 BRAF missense p.N581S chronic myeloid leukemia,melanoma,skin melanoma,lung adenocarcinoma,ovarian serous cystadenocarcinoma,multiple myeloma,papillary renal cell carcinoma,colorectal cancer 24446311,25157968,26619011 ENST00000288602:c.1742A>C 7 140453193 140453193 T G GRCh37 BRAF missense p.N581T skin melanoma,lung adenocarcinoma,ovarian serous cystadenocarcinoma,multiple myeloma,papillary renal cell carcinoma,colorectal cancer 26619011 ENST00000288602:c.1741A>C 7 140453987 140453987 T G GRCh37 BRAF missense p.N581H skin melanoma,lung adenocarcinoma,ovarian serous cystadenocarcinoma,multiple myeloma,papillary renal cell carcinoma,colorectal cancer 26619011 ENST00000288602:c.1415A>G 7 140481393 140481393 T C GRCh37 BRAF missense p.Y472C lung cancer 12068308,12460918,12460919,19010912,19238210,21483012,22649091,23833300 ENST00000288602:c.1411G>T 7 140481397 140481397 C A GRCh37 BRAF missense p.V471F melanoma 25157968 ENST00000496384:c.229GG>TT 7 140481402 140481403 CC AA GRCh37 BRAF missense p.G77L lung cancer 12460919,19010912,19238210,21483012,22649091,23833300,24035431,12068308,12460918 ENST00000288602:c.1406G>A 7 140481402 140481402 C T GRCh37 BRAF missense p.G469E colorectal cancer,melanoma,lung adenocarcinoma,skin melanoma,multiple myeloma,prostate adenocarcinoma,lung squamous cell carcinoma,skin squamous cell carcinoma,urinary bladder urothelial carcinoma 12068308,18186519,19537845,20350999,21129611,22310681,18794803,25157968,26619011 ENST00000496384:c.230G>T 7 140481402 140481402 C A GRCh37 BRAF missense p.G77V colorectal cancer,cancer 12068308,18186519,19537845,20350999,21129611,22310681,25157968 ENST00000288602:c.1406G>C 7 140481402 140481402 C G GRCh37 BRAF missense p.G469A colorectal cancer,lung cancer,lung adenocarcinoma,skin melanoma,multiple myeloma,prostate adenocarcinoma,lung squamous cell carcinoma,skin squamous cell carcinoma,urinary bladder urothelial carcinoma,cancer 12068308,12460918,12460919,18186519,19010912,19238210,19537845,20350999,21129611,21483012,22310681,22649091,23833300,22773810,25157968,26619011,15035987 ENST00000288602:c.1405GG>TC 7 140481402 140481403 CC GA GRCh37 BRAF missense p.G469S melanoma 16096377,25157968 ENST00000288602:c.1406G>T 7 140481402 140481402 C A GRCh37 BRAF missense p.G469V lung adenocarcinoma,skin melanoma,multiple myeloma,prostate adenocarcinoma,lung squamous cell carcinoma,skin squamous cell carcinoma,colorectal cancer,urinary bladder urothelial carcinoma,cancer 26619011,15035987 ENST00000288602:c.1405G>C 7 140481403 140481403 C G GRCh37 BRAF missense p.G469R melanoma,lung adenocarcinoma,skin melanoma,multiple myeloma,prostate adenocarcinoma,lung squamous cell carcinoma,skin squamous cell carcinoma,colorectal cancer,urinary bladder urothelial carcinoma 25157968,26619011 ENST00000288602:c.1405G>A 7 140481403 140481403 C T GRCh37 BRAF missense p.G469R melanoma 25157968 ENST00000288602:c.1397G>T 7 140481411 140481411 C A GRCh37 BRAF missense p.G466V colorectal cancer,lung cancer,non-small cell lung carcinoma,lung adenocarcinoma,multiple myeloma,skin melanoma,lung squamous cell carcinoma,head and neck squamous cell carcinoma 12068308,12460918,12460919,18186519,19010912,19238210,19537845,20350999,21129611,21483012,22310681,22649091,23833300,25157968,26619011 ENST00000288602:c.1397G>A 7 140481411 140481411 C T GRCh37 BRAF missense p.G466E melanoma,lung adenocarcinoma,multiple myeloma,skin melanoma,lung squamous cell carcinoma,head and neck squamous cell carcinoma,colorectal cancer 23273605,25157968,26619011 ENST00000288602:c.1397G>C 7 140481411 140481411 C G GRCh37 BRAF missense p.G466A melanoma,lung adenocarcinoma,multiple myeloma,skin melanoma,lung squamous cell carcinoma,head and neck squamous cell carcinoma,colorectal cancer 25157968,26619011 ENST00000288602:c.1396G>A 7 140481412 140481412 C T GRCh37 BRAF missense p.G466R ovarian cancer 25157968 ENST00000288602:c.1391G>T 7 140481417 140481417 C A GRCh37 BRAF missense p.G464V breast cancer,cancer 12068308,22538770,25157968,15035987 ENST00000288602:c.1391G>A 7 140481417 140481417 C T GRCh37 BRAF missense p.G464E chronic lymphocytic leukemia,cancer 18060073,25157968,15035987 ENST00000288602:c.1390G>A 7 140481418 140481418 C T GRCh37 BRAF missense p.G464R melanoma 24918823,25157968 ENST00000288602:c.1330C>T 7 140481478 140481478 G A GRCh37 BRAF missense p.R444W melanoma 18060073,25157968 ENST00000320356:c.2045C>G 7 148506467 148506467 G C GRCh37 EZH2 missense p.A682G lymphoma 23023262 ENST00000320356:c.1937A>T 7 148508727 148508727 T A GRCh37 EZH2 missense p.Y646F lymphoma,skin melanoma,non-Hodgkin lymphoma 23023262,24563539,26619011 ENST00000320356:c.1937A>C 7 148508727 148508727 T G GRCh37 EZH2 missense p.Y646S lymphoma,skin melanoma,non-Hodgkin lymphoma 23023262,26619011 ENST00000320356:c.1936T>C 7 148508728 148508728 A G GRCh37 EZH2 missense p.Y646H lymphoma,skin melanoma,non-Hodgkin lymphoma 23023262,26619011 ENST00000320356:c.1936T>A 7 148508728 148508728 A T GRCh37 EZH2 missense p.Y646N lymphoma,skin melanoma,non-Hodgkin lymphoma 23023262,26619011 ENST00000460911:c.1921T>A 7 148508728 148508728 A T GRCh37 EZH2 missense p.Y641N skin melanoma,non-Hodgkin lymphoma 26619011 ENST00000460911:c.1921T>C 7 148508728 148508728 A G GRCh37 EZH2 missense p.Y641H skin melanoma,non-Hodgkin lymphoma 26619011 ENST00000320356:c.1922A>T 7 148508742 148508742 T A GRCh37 EZH2 missense p.E641V skin melanoma,non-Hodgkin lymphoma 26619011 ENST00000320356:c.1922A>C 7 148508742 148508742 T G GRCh37 EZH2 missense p.E641A skin melanoma,non-Hodgkin lymphoma 26619011 ENST00000262187:c.104A>G 7 151188049 151188049 T C GRCh37 RHEB missense p.Y35C uterine corpus endometrial carcinoma,renal clear cell carcinoma,papillary renal cell carcinoma,urinary bladder urothelial carcinoma 26619011 ENST00000262187:c.103T>A 7 151188050 151188050 A T GRCh37 RHEB missense p.Y35N uterine corpus endometrial carcinoma,renal clear cell carcinoma,papillary renal cell carcinoma,urinary bladder urothelial carcinoma 26619011 ENST00000425967:c.2061G>C 8 38272306 38272306 C G GRCh37 FGFR1 missense p.K687N pilocytic astrocytoma,medulloblastoma,hepatocellular carcinoma,glioblastoma multiforme,urinary bladder urothelial carcinoma,acute lymphocytic leukemia 26619011 ENST00000341462:c.1968G>C 8 38272306 38272306 C G GRCh37 FGFR1 missense p.K656N pilocytic astrocytoma,medulloblastoma,hepatocellular carcinoma,glioblastoma multiforme,urinary bladder urothelial carcinoma,acute lymphocytic leukemia 26619011 ENST00000425967:c.2059A>G 8 38272308 38272308 T C GRCh37 FGFR1 missense p.K687E pilocytic astrocytoma,medulloblastoma,hepatocellular carcinoma,glioblastoma multiforme,urinary bladder urothelial carcinoma,acute lymphocytic leukemia 26619011 ENST00000341462:c.1966A>G 8 38272308 38272308 T C GRCh37 FGFR1 missense p.K656E pilocytic astrocytoma,medulloblastoma,hepatocellular carcinoma,glioblastoma multiforme,urinary bladder urothelial carcinoma,acute lymphocytic leukemia 26619011 ENST00000425967:c.1731C>A 8 38274849 38274849 G T GRCh37 FGFR1 missense p.N577K pilocytic astrocytoma,gastric adenocarcinoma,neuroblastoma,medulloblastoma,brain stem glioma 26619011 ENST00000341462:c.1638C>A 8 38274849 38274849 G T GRCh37 FGFR1 missense p.N546K pilocytic astrocytoma,gastric adenocarcinoma,neuroblastoma,medulloblastoma,brain stem glioma 26619011 ENST00000425967:c.1729A>G 8 38274851 38274851 T C GRCh37 FGFR1 missense p.N577D pilocytic astrocytoma,gastric adenocarcinoma,neuroblastoma,medulloblastoma,brain stem glioma 26619011 ENST00000425967:c.1636A>G 8 38275397 38275397 T C GRCh37 FGFR1 missense p.M546V pilocytic astrocytoma,gastric adenocarcinoma,neuroblastoma,medulloblastoma,brain stem glioma 26619011 ENST00000425967:c.847C>A 8 38282209 38282209 G T GRCh37 FGFR1 missense p.P283T cancer 25157968 ENST00000425967:c.473C>T 8 38285938 38285938 G A GRCh37 FGFR1 missense p.S158L cancer 25157968 ENST00000284811:c.236A>C 8 74858968 74858968 T G GRCh37 TCEB1 missense p.Y79S renal clear cell carcinoma 26619011 ENST00000284811:c.236A>T 8 74858968 74858968 T A GRCh37 TCEB1 missense p.Y79F renal clear cell carcinoma 26619011 ENST00000284811:c.235T>A 8 74858969 74858969 A T GRCh37 TCEB1 missense p.Y79N renal clear cell carcinoma 26619011 ENST00000377970:c.169C>T 8 128750632 128750632 C T GRCh37 MYC missense p.P57S cancer 25157968 ENST00000377970:c.173C>T 8 128750636 128750636 C T GRCh37 MYC missense p.P58L skin melanoma,neuroblastoma,non-Hodgkin lymphoma,lung adenocarcinoma,esophageal carcinoma 26619011 ENST00000377970:c.176C>T 8 128750639 128750639 C T GRCh37 MYC missense p.A59V cancer 25157968 ENST00000377970:c.217A>C 8 128750680 128750680 A C GRCh37 MYC missense p.T73P skin melanoma,neuroblastoma,non-Hodgkin lymphoma,lung adenocarcinoma,esophageal carcinoma 26619011 ENST00000377970:c.218C>T 8 128750681 128750681 C T GRCh37 MYC missense p.T73I cancer,skin melanoma,neuroblastoma,non-Hodgkin lymphoma,lung adenocarcinoma,esophageal carcinoma 25157968,26619011 ENST00000377970:c.230C>T 8 128750693 128750693 C T GRCh37 MYC missense p.S77F cancer 25157968 ENST00000377970:c.302A>C 8 128750765 128750765 A C GRCh37 MYC missense p.N101T cancer 25157968 ENST00000377970:c.778C>G 8 128751241 128751241 C G GRCh37 MYC missense p.P260A cancer 25157968 ENST00000381652:c.1691G>T 9 5072541 5072541 G T GRCh37 JAK2 missense p.R564L bone marrow cancer 17267906 ENST00000381652:c.1849G>T 9 5073770 5073770 G T GRCh37 JAK2 missense p.V617F acute myeloid leukemia,myelofibrosis,polycythemia vera,lymphoid leukemia,bone marrow cancer,chronic myeloid leukemia 20339092,20631743,21120162,21689158,22041374,22422826,22571758,22818858,22829971,23115274,24404189,16293597,24986690,25157968,16709929,18394554,16081687,19287384,15781101 ENST00000381652:c.2047A>G 9 5078360 5078360 A G GRCh37 JAK2 missense p.R683G acute lymphocytic leukemia,bone marrow cancer 18805579,19470474,22368270,22955920,20585391 ENST00000381652:c.2048G>C 9 5078361 5078361 G C GRCh37 JAK2 missense p.R683T acute lymphocytic leukemia 18805579,19470474,22368270,22955920 ENST00000381652:c.2049A>C 9 5078362 5078362 A C GRCh37 JAK2 missense p.R683S acute lymphocytic leukemia 18805579,19470474,22368270,22955920 ENST00000381652:c.2049A>T 9 5078362 5078362 A T GRCh37 JAK2 missense p.R683S acute lymphocytic leukemia 18805579,19470474,22368270,22955920 ENST00000381652:c.2624C>A 9 5089726 5089726 C A GRCh37 JAK2 missense p.T875N bone marrow cancer 20585391 ENST00000446177:c.341C>T 9 21971017 21971017 G A GRCh37 CDKN2A missense p.P114L melanoma 25157968 ENST00000304494:c.341C>T 9 21971017 21971017 G A GRCh37 CDKN2A missense p.P114L skin melanoma,head and neck squamous cell carcinoma,lung squamous cell carcinoma,skin squamous cell carcinoma 26619011 ENST00000304494:c.341C>A 9 21971017 21971017 G T GRCh37 CDKN2A missense p.P114H skin melanoma,head and neck squamous cell carcinoma,lung squamous cell carcinoma,skin squamous cell carcinoma 26619011 ENST00000304494:c.340C>A 9 21971018 21971018 G T GRCh37 CDKN2A missense p.P114T skin melanoma,head and neck squamous cell carcinoma,lung squamous cell carcinoma,skin squamous cell carcinoma 26619011 ENST00000446177:c.330G>A 9 21971028 21971028 C T GRCh37 CDKN2A stop_lost p.W110* cancer 25157968 ENST00000446177:c.329G>A 9 21971029 21971029 C T GRCh37 CDKN2A stop_lost p.W110* cancer 25157968 ENST00000361570:c.488G>T 9 21971036 21971036 C A GRCh37 CDKN2A missense p.R163L cancer 25157968 ENST00000446177:c.262G>T 9 21971096 21971096 C A GRCh37 CDKN2A stop_lost p.E88* cancer 25157968 ENST00000361570:c.416G>T 9 21971108 21971108 C A GRCh37 CDKN2A missense p.R139L cancer 25157968 ENST00000498124:c.249C>G 9 21971109 21971109 G C GRCh37 CDKN2A missense p.H83Q pancreas adenocarcinoma,skin melanoma,head and neck squamous cell carcinoma,gastric adenocarcinoma,lung adenocarcinoma,hepatocellular carcinoma,skin squamous cell carcinoma,urinary bladder urothelial carcinoma 26619011 ENST00000446177:c.248A>G 9 21971110 21971110 T C GRCh37 CDKN2A missense p.H83R pancreas adenocarcinoma,skin melanoma,head and neck squamous cell carcinoma,gastric adenocarcinoma,lung adenocarcinoma,hepatocellular carcinoma,skin squamous cell carcinoma,urinary bladder urothelial carcinoma 26619011 ENST00000361570:c.413C>T 9 21971111 21971111 G A GRCh37 CDKN2A missense p.A138V cancer 25157968 ENST00000446177:c.247C>T 9 21971111 21971111 G A GRCh37 CDKN2A missense p.H83Y pancreas adenocarcinoma,skin melanoma,head and neck squamous cell carcinoma,gastric adenocarcinoma,lung adenocarcinoma,hepatocellular carcinoma,skin squamous cell carcinoma,urinary bladder urothelial carcinoma 26619011 ENST00000304494:c.247C>G 9 21971111 21971111 G C GRCh37 CDKN2A missense p.H83D pancreas adenocarcinoma,skin melanoma,head and neck squamous cell carcinoma,gastric adenocarcinoma,lung adenocarcinoma,hepatocellular carcinoma,skin squamous cell carcinoma,urinary bladder urothelial carcinoma 26619011 ENST00000446177:c.239G>A 9 21971119 21971119 C T GRCh37 CDKN2A missense p.R80Q head and neck squamous cell carcinoma,skin melanoma,esophageal carcinoma,pancreas adenocarcinoma,lung adenocarcinoma,gastric adenocarcinoma,prostate adenocarcinoma,lung squamous cell carcinoma,papillary renal cell carcinoma,colorectal cancer,urinary bladder urothelial carcinoma 26619011 ENST00000446177:c.238C>T 9 21971120 21971120 G A GRCh37 CDKN2A stop_lost p.R80* melanoma 21609436,25157968 ENST00000446177:c.205G>T 9 21971153 21971153 C A GRCh37 CDKN2A stop_lost p.E69* cancer 25157968 ENST00000446177:c.181G>T 9 21971177 21971177 C A GRCh37 CDKN2A stop_lost p.E61* cancer 25157968 ENST00000446177:c.172C>T 9 21971186 21971186 G A GRCh37 CDKN2A stop_lost p.R58* cancer 25157968 ENST00000498124:c.150G>T 9 21974677 21974677 C A GRCh37 CDKN2A missense p.Q50H skin melanoma,pancreas adenocarcinoma,skin squamous cell carcinoma,gastric adenocarcinoma,lung squamous cell carcinoma,head and neck squamous cell carcinoma,colorectal cancer 26619011 ENST00000304494:c.149A>G 9 21974678 21974678 T C GRCh37 CDKN2A missense p.Q50R skin melanoma,pancreas adenocarcinoma,skin squamous cell carcinoma,gastric adenocarcinoma,lung squamous cell carcinoma,head and neck squamous cell carcinoma,colorectal cancer 26619011 ENST00000380036:c.2228G>C 9 27204927 27204927 G C GRCh37 TEK missense p.G743A acute myeloid leukemia 19340004 ENST00000286548:c.626A>T 9 80409488 80409488 T A GRCh37 GNAQ missense p.Q209L melanoma,uveal melanoma 1328859,2549426,18719078,19078957,21083380,22253748,22653968,22733540,22808163,25157968 ENST00000286548:c.626A>G 9 80409488 80409488 T C GRCh37 GNAQ missense p.Q209R melanoma 1328859,2549426,18719078,19078957,21083380,22253748,22653968,22733540,22808163 ENST00000286548:c.626A>C 9 80409488 80409488 T G GRCh37 GNAQ missense p.Q209P melanoma,uveal melanoma 1328859,2549426,18719078,19078957,21083380,22253748,22653968,22733540,22808163,25157968 ENST00000286548:c.625CA>TT 9 80409488 80409489 TG AA GRCh37 GNAQ missense p.Q209L uveal melanoma 25157968 ENST00000451402:c.901C>T 9 127912080 127912080 G A GRCh37 PPP6C missense p.R301C skin melanoma,lung squamous cell carcinoma 26619011 ENST00000373547:c.790C>T 9 127912080 127912080 G A GRCh37 PPP6C missense p.R264C skin melanoma,lung squamous cell carcinoma 26619011 ENST00000372348:c.763G>A 9 133738306 133738306 G A GRCh37 ABL1 missense p.E255K chronic myeloid leukemia 21562040 ENST00000372348:c.787A>G 9 133738330 133738330 A G GRCh37 ABL1 missense p.M263V chronic myeloid leukemia 12399961,12576318,12623848,18223278,20367437,21888027,21895409,23676790,25157968 ENST00000372348:c.799C>G 9 133738342 133738342 C G GRCh37 ABL1 missense p.L267V chronic myeloid leukemia 12623848,17008892,18354488,20367437,21221851,25157968 ENST00000372348:c.806G>A 9 133738349 133738349 G A GRCh37 ABL1 missense p.G269E chronic myeloid leukemia 11964322,12623848,20367437,21505103,21895409,22870928,23676790,25157968 ENST00000372348:c.813G>C 9 133738356 133738356 G C GRCh37 ABL1 missense p.Q271H chronic myeloid leukemia 12399961,12623848,15256422,20367437,24109527,25157968 ENST00000372348:c.813G>T 9 133738356 133738356 G T GRCh37 ABL1 missense p.Q271H chronic myeloid leukemia 12623848,15256422,25157968 ENST00000372348:c.814T>C 9 133738357 133738357 T C GRCh37 ABL1 missense p.Y272H chronic myeloid leukemia,acute lymphocytic leukemia 11964322,12399961,14559829,14745431,15256422,15381060,19466505,19652056,20367437,20697894,21505103,21895409,23676790,24456693,11853795,18615627,21562040,25157968 ENST00000372348:c.815A>T 9 133738358 133738358 A T GRCh37 ABL1 missense p.Y272F chronic myeloid leukemia 12399961,12623848,20367437,25157968 ENST00000372348:c.820G>A 9 133738363 133738363 G A GRCh37 ABL1 missense p.E274K chronic myeloid leukemia 11423618,11567109,11853795,11861307,11964322,12399961,12623848,14745431,15194504,18757400,21509757,22210874,22912393,23676790,24236021,25157968 ENST00000318560:c.763G>A 9 133738363 133738363 G A GRCh37 ABL1 missense p.E255K chronic myeloid leukemia 15194504 ENST00000372348:c.821A>T 9 133738364 133738364 A T GRCh37 ABL1 missense p.E274V chronic myeloid leukemia 11569495,11853795,12399961,12623848,14745431,19164531,19264234,23676790,24236021,25157968 ENST00000372348:c.904T>G 9 133747540 133747540 T G GRCh37 ABL1 missense p.F302V chronic myeloid leukemia 14745431,15510211,21895409,24456693,25157968 ENST00000372348:c.952G>C 9 133747588 133747588 G C GRCh37 ABL1 missense p.V318L chronic myeloid leukemia 21562040 ENST00000372348:c.1000A>G 9 133748282 133748282 A G GRCh37 ABL1 missense p.T334A chronic myeloid leukemia 21562040 ENST00000372348:c.1001C>T 9 133748283 133748283 C T GRCh37 ABL1 missense p.T334I chronic myeloid leukemia,acute lymphocytic leukemia 11423618,11853795,11964322,12130516,12399961,12623848,14745431,20367437,20512393,20963643,21762985,21872826,21895409,22306673,22870928,23355941,23540562,23676790,24236021,11861307,22772060,21562040,25157968,15194504,20537386 ENST00000372348:c.1006T>A 9 133748288 133748288 T A GRCh37 ABL1 missense p.F336I chronic myeloid leukemia 21562040 ENST00000372348:c.1006T>G 9 133748288 133748288 T G GRCh37 ABL1 missense p.F336V chronic myeloid leukemia 21562040 ENST00000318560:c.949T>C 9 133748288 133748288 T C GRCh37 ABL1 missense p.F317L chronic myeloid leukemia 24236021,18818391,25349473 ENST00000372348:c.1007T>G 9 133748289 133748289 T G GRCh37 ABL1 missense p.F336C chronic myeloid leukemia 21562040 ENST00000372348:c.1008C>A 9 133748290 133748290 C A GRCh37 ABL1 missense p.F336L chronic myeloid leukemia 12623848,17114651,18828913,20367437,21489624,21895409,21562040,25157968 ENST00000372348:c.1008C>G 9 133748290 133748290 C G GRCh37 ABL1 missense p.F336L chronic myeloid leukemia 11964322,12623848,20367437,21489624,21605905,23676790,21562040,25157968 ENST00000372348:c.1109T>C 9 133748391 133748391 T C GRCh37 ABL1 missense p.M370T chronic myeloid leukemia 11964322,12130516,12399961,12623848,12783380,14745431,15381060,17189410,19557636,19768693,20557306,20607847,23355941,23676790,25157968 ENST00000372348:c.1121A>G 9 133748403 133748403 A G GRCh37 ABL1 missense p.E374G chronic myeloid leukemia 12399961,12623848,12783380,20010464,20702476,23676790,24456693,25157968 ENST00000372348:c.1132T>G 9 133748414 133748414 T G GRCh37 ABL1 missense p.F378V chronic myeloid leukemia 12623848,14745431,19768693,20367437,21895409,23575252,23676790,25152116,25157968 ENST00000372348:c.1132T>A 9 133748414 133748414 T A GRCh37 ABL1 missense p.F378I chronic myeloid leukemia 21562040 ENST00000372348:c.1132T>C 9 133748414 133748414 T C GRCh37 ABL1 missense p.F378L chronic myeloid leukemia 21562040 ENST00000372348:c.1133T>G 9 133748415 133748415 T G GRCh37 ABL1 missense p.F378C chronic myeloid leukemia 21562040 ENST00000372348:c.1244A>G 9 133750356 133750356 A G GRCh37 ABL1 missense p.H415R chronic myeloid leukemia 12399961,12623848,14745431,19811824,21489624,23676790,25157968 ENST00000481739:c.1280C>T 9 137328351 137328351 C T GRCh37 RXRA missense p.S427F urinary bladder urothelial carcinoma,pancreas adenocarcinoma,hepatocellular carcinoma 26619011 ENST00000481739:c.1280C>A 9 137328351 137328351 C A GRCh37 RXRA missense p.S427Y urinary bladder urothelial carcinoma,pancreas adenocarcinoma,hepatocellular carcinoma 26619011 ENST00000277541:c.6979C>T 9 139391212 139391212 G A GRCh37 NOTCH1 missense p.R2327W non-small cell lung carcinoma 20007775 ENST00000277541:c.4924G>C 9 139399219 139399219 C G GRCh37 NOTCH1 missense p.D1642H non-small cell lung carcinoma 20007775 ENST00000340058:c.1826G>A 10 43609070 43609070 G A GRCh37 RET missense p.C609Y multiple endocrine neoplasia type 1,multiple endocrine neoplasia type 2A,multiple endocrine neoplasia type 2B,multiple endocrine neoplasia type 4,thyroid medullary carcinoma 10490816 ENST00000355710:c.1834delTTCCCTGAGGAGGAGAAGTGCTTCTGC 10 43609078 43609104 TTCCCTGAGGAGGAGAAGTGCTTCTGC - GRCh37 RET inframe p.FPEEEKCFC612- thyroid medullary carcinoma 25157968 ENST00000340058:c.1852T>C 10 43609096 43609096 T C GRCh37 RET missense p.C618R multiple endocrine neoplasia type 1,multiple endocrine neoplasia type 2A,multiple endocrine neoplasia type 2B,multiple endocrine neoplasia type 4,thyroid medullary carcinoma 10490816 ENST00000355710:c.1853G>A 10 43609097 43609097 G A GRCh37 RET missense p.C618Y multiple endocrine neoplasia type 1,multiple endocrine neoplasia type 2A,multiple endocrine neoplasia type 2B,multiple endocrine neoplasia type 4,thyroid medullary carcinoma 10490816 ENST00000340058:c.1859G>A 10 43609103 43609103 G A GRCh37 RET missense p.C620Y multiple endocrine neoplasia type 1,multiple endocrine neoplasia type 2A,multiple endocrine neoplasia type 2B,multiple endocrine neoplasia type 4,thyroid medullary carcinoma 9012462 ENST00000340058:c.1888T>C 10 43609936 43609936 T C GRCh37 RET missense p.C630R multiple endocrine neoplasia type 1,multiple endocrine neoplasia type 2A,multiple endocrine neoplasia type 2B,multiple endocrine neoplasia type 4,thyroid medullary carcinoma 10490816 ENST00000355710:c.1892A>G 10 43609940 43609940 A G GRCh37 RET missense p.D631G thyroid medullary carcinoma 25157968 ENST00000355710:c.1894delGAGCTG 10 43609942 43609947 GAGCTG - GRCh37 RET inframe p.EL632- thyroid medullary carcinoma 25157968 ENST00000355710:c.1900T>C 10 43609948 43609948 T C GRCh37 RET missense p.C634R thyroid medullary carcinoma 15184865,25157968 ENST00000340058:c.1900T>C 10 43609948 43609948 T C GRCh37 RET missense p.C634R multiple endocrine neoplasia type 1,multiple endocrine neoplasia type 2A,multiple endocrine neoplasia type 2B,multiple endocrine neoplasia type 4,thyroid medullary carcinoma 8570194 ENST00000355710:c.1901G>A 10 43609949 43609949 G A GRCh37 RET missense p.C634Y cancer 25157968 ENST00000340058:c.1901G>A 10 43609949 43609949 G A GRCh37 RET missense p.C634Y multiple endocrine neoplasia type 1,multiple endocrine neoplasia type 2A,multiple endocrine neoplasia type 2B,multiple endocrine neoplasia type 4,thyroid medullary carcinoma 8570194 ENST00000355710:c.1902C>G 10 43609950 43609950 C G GRCh37 RET missense p.C634W thyroid medullary carcinoma,thyroid cancer 20943719,20065189,22025146,21470995,23056499,25157968,21422803 ENST00000340058:c.1902C>G 10 43609950 43609950 C G GRCh37 RET missense p.C634W multiple endocrine neoplasia type 1,multiple endocrine neoplasia type 2A,multiple endocrine neoplasia type 2B,multiple endocrine neoplasia type 4,thyroid medullary carcinoma 8570194 ENST00000355710:c.2304G>C 10 43613840 43613840 G C GRCh37 RET missense p.E768D cancer,multiple endocrine neoplasia type 1,multiple endocrine neoplasia type 2A,multiple endocrine neoplasia type 2B,multiple endocrine neoplasia type 4,thyroid medullary carcinoma 25157968,9242375 ENST00000340058:c.2372A>T 10 43613908 43613908 A T GRCh37 RET missense p.Y791F multiple endocrine neoplasia type 1,multiple endocrine neoplasia type 2A,multiple endocrine neoplasia type 2B,multiple endocrine neoplasia type 4,thyroid medullary carcinoma 15753368 ENST00000355710:c.2410G>C 10 43614996 43614996 G C GRCh37 RET missense p.V804L multiple endocrine neoplasia type 1,multiple endocrine neoplasia type 2A,multiple endocrine neoplasia type 2B,multiple endocrine neoplasia type 4,thyroid medullary carcinoma 9242375 ENST00000355710:c.2647GC>TT 10 43615568 43615569 GC TT GRCh37 RET missense p.A883F thyroid medullary carcinoma 15184865,25157968 ENST00000340058:c.2647GC>TT 10 43615568 43615569 GC TT GRCh37 RET missense p.A883F multiple endocrine neoplasia type 1,multiple endocrine neoplasia type 2A,multiple endocrine neoplasia type 2B,multiple endocrine neoplasia type 4,thyroid medullary carcinoma 10445857 ENST00000340058:c.2671T>G 10 43615592 43615592 T G GRCh37 RET missense p.S891A multiple endocrine neoplasia type 1,multiple endocrine neoplasia type 2A,multiple endocrine neoplasia type 2B,multiple endocrine neoplasia type 4,thyroid medullary carcinoma 15753368 ENST00000355710:c.2692delGATGTTTATGAA 10 43615613 43615624 GATGTTTATGAA - GRCh37 RET inframe p.DVYE898- thyroid medullary carcinoma 25157968 ENST00000355710:c.2753T>C 10 43617416 43617416 T C GRCh37 RET missense p.M918T thyroid medullary carcinoma,thyroid cancer 11351254,9681850,18541894,19255327,20065189,20368568,20847059,21455200,21470995,22025146,23056499,25157968,18073307,21422803,9839497 ENST00000340058:c.2753T>C 10 43617416 43617416 T C GRCh37 RET missense p.M918T multiple endocrine neoplasia type 1,multiple endocrine neoplasia type 2A,multiple endocrine neoplasia type 2B,multiple endocrine neoplasia type 4,thyroid medullary carcinoma 8570194 ENST00000371953:c.388C>G 10 89692904 89692904 C G GRCh37 PTEN missense p.R130G oral squamous cell carcinoma,ovarian cancer,uterine corpus endometrial carcinoma,glioblastoma multiforme,breast cancer,colorectal cancer,uterine carcinosarcoma,cervix carcinoma,skin melanoma,lung small cell carcinoma,head and neck squamous cell carcinoma,gastric adenocarcinoma,prostate adenocarcinoma,lung squamous cell carcinoma,renal clear cell carcinoma 21824802,11504908,18767981,20085938,25157968,26619011 ENST00000371953:c.388C>T 10 89692904 89692904 C T GRCh37 PTEN stop_lost p.R130* brain cancer,ovarian cancer 11274365,20085938,11504908,18767981,25157968 ENST00000371953:c.389G>A 10 89692905 89692905 G A GRCh37 PTEN missense p.R130Q ovarian cancer,cancer,uterine corpus endometrial carcinoma,glioblastoma multiforme,breast cancer,colorectal cancer,uterine carcinosarcoma,cervix carcinoma,skin melanoma,lung small cell carcinoma,head and neck squamous cell carcinoma,gastric adenocarcinoma,prostate adenocarcinoma,lung squamous cell carcinoma,renal clear cell carcinoma 11504908,18767981,20085938,25157968,26619011 ENST00000371953:c.389G>T 10 89692905 89692905 G T GRCh37 PTEN missense p.R130L uterine corpus endometrial carcinoma,glioblastoma multiforme,breast cancer,colorectal cancer,uterine carcinosarcoma,cervix carcinoma,skin melanoma,lung small cell carcinoma,head and neck squamous cell carcinoma,gastric adenocarcinoma,prostate adenocarcinoma,lung squamous cell carcinoma,renal clear cell carcinoma 26619011 ENST00000371953:c.389G>C 10 89692905 89692905 G C GRCh37 PTEN missense p.R130P uterine corpus endometrial carcinoma,glioblastoma multiforme,breast cancer,colorectal cancer,uterine carcinosarcoma,cervix carcinoma,skin melanoma,lung small cell carcinoma,head and neck squamous cell carcinoma,gastric adenocarcinoma,prostate adenocarcinoma,lung squamous cell carcinoma,renal clear cell carcinoma 26619011 ENST00000371953:c.477G>T 10 89692993 89692993 G T GRCh37 PTEN missense p.R159S colorectal cancer,breast cancer 19366826,19903786,20085938,10555148,11504908,15016963,15254419,15647370,18725974,20453058,20619739,22162582,22162589 ENST00000371953:c.517C>T 10 89711899 89711899 C T GRCh37 PTEN missense p.R173C brain cancer 25157968 ENST00000371953:c.518G>A 10 89711900 89711900 G A GRCh37 PTEN missense p.R173H brain cancer 24721394,25157968 ENST00000371953:c.697C>T 10 89717672 89717672 C T GRCh37 PTEN stop_lost p.R233* non-small cell lung carcinoma,breast cancer,colorectal cancer,glioblastoma multiforme 9598803,10555148,11504908,15016963,15254419,15647370,18725974,19351834,19366826,19903786,20018398,20085938,20453058,20619739,20881644,22162582,22162589,22479427 ENST00000371953:c.698G>A 10 89717673 89717673 G A GRCh37 PTEN missense p.R233Q uterine corpus endometrial carcinoma,glioblastoma multiforme,gastric adenocarcinoma,colorectal cancer,uterine carcinosarcoma,prostate adenocarcinoma,cervix carcinoma,urinary bladder urothelial carcinoma 26619011 ENST00000371953:c.700C>T 10 89717675 89717675 C T GRCh37 PTEN missense p.R234W cancer 25157968 ENST00000371953:c.800delA 10 89717775 89717775 A - GRCh37 PTEN frameshift p.K267X breast cancer,colorectal cancer 10555148,11504908,15016963,15254419,15647370,18725974,19366826,19903786,20085938,20453058,20619739,22162582,22162589 ENST00000371953:c.1003C>T 10 89720852 89720852 C T GRCh37 PTEN stop_lost p.R335* brain cancer 25157968 ENST00000343289:c.1220A>C 10 104850745 104850745 T G GRCh37 NT5C2 missense p.D407A acute T cell leukemia 23377281 ENST00000343289:c.1100G>A 10 104852955 104852955 C T GRCh37 NT5C2 missense p.R367Q acute T cell leukemia 23377281 ENST00000343289:c.1075A>C 10 104852980 104852980 T G GRCh37 NT5C2 missense p.K359Q acute lymphocytic leukemia,acute T cell leukemia 23377281 ENST00000457416:c.1978A>G 10 123247516 123247516 T C GRCh37 FGFR2 missense p.K660E endometrial adenocarcinoma 23908597 ENST00000457416:c.1977A>T 10 123247517 123247517 T A GRCh37 FGFR2 missense p.K659N endometrial carcinoma 17525745 ENST00000369056:c.1975A>G 10 123247519 123247519 T C GRCh37 FGFR2 missense p.K659E endometrial carcinoma 17525745 ENST00000457416:c.1917T>A 10 123247577 123247577 A T GRCh37 FGFR2 missense p.N639K endometrial carcinoma 25157968 ENST00000357555:c.1647T>A 10 123247577 123247577 A T GRCh37 FGFR2 missense p.N549K uterine corpus endometrial carcinoma,breast cancer,nasopharynx carcinoma,lung adenocarcinoma,endometrial carcinoma 26619011,17525745 ENST00000357555:c.1646A>C 10 123247578 123247578 T G GRCh37 FGFR2 missense p.N549T craniosynostosis 17803937 ENST00000457416:c.1852T>A 10 123256060 123256060 A T GRCh37 FGFR2 missense p.L618M endometrial adenocarcinoma 23908597 ENST00000457416:c.1697A>G 10 123256215 123256215 T C GRCh37 FGFR2 missense p.E566G endometrial adenocarcinoma 23908597 ENST00000358487:c.1694A>C 10 123256215 123256215 T G GRCh37 FGFR2 missense p.E565A craniosynostosis 17803937 ENST00000457416:c.1693G>A 10 123256219 123256219 C T GRCh37 FGFR2 missense p.V565I endometrial adenocarcinoma 23908597 ENST00000457416:c.1650T>G 10 123258034 123258034 A C GRCh37 FGFR2 missense p.N550K endometrial adenocarcinoma 18552176,22238366,23002168,23908597 ENST00000457416:c.1650T>A 10 123258034 123258034 A T GRCh37 FGFR2 missense p.N550K endometrial adenocarcinoma,uterine corpus endometrial carcinoma,breast cancer,nasopharynx carcinoma,lung adenocarcinoma 18552176,22238366,23002168,23908597,26619011 ENST00000457416:c.1648A>C 10 123258036 123258036 T G GRCh37 FGFR2 missense p.N550H endometrial adenocarcinoma 23908597 ENST00000369056:c.1648A>C 10 123258036 123258036 T G GRCh37 FGFR2 missense p.N550H uterine corpus endometrial carcinoma,breast cancer,nasopharynx carcinoma,lung adenocarcinoma 26619011 ENST00000369056:c.1645A>C 10 123258039 123258039 T G GRCh37 FGFR2 missense p.I549L uterine corpus endometrial carcinoma,breast cancer,nasopharynx carcinoma,lung adenocarcinoma,endometrial carcinoma 26619011,17525745 ENST00000457416:c.1642A>G 10 123258042 123258042 T C GRCh37 FGFR2 missense p.I548V endometrial adenocarcinoma 23908597 ENST00000457416:c.1614G>T 10 123258070 123258070 C A GRCh37 FGFR2 missense p.M538I endometrial adenocarcinoma 23908597 ENST00000457416:c.1614G>C 10 123258070 123258070 C G GRCh37 FGFR2 missense p.M538I endometrial adenocarcinoma 23908597 ENST00000457416:c.1614G>A 10 123258070 123258070 C T GRCh37 FGFR2 missense p.M538I endometrial adenocarcinoma 23908597 ENST00000457416:c.1608G>T 10 123258076 123258076 C A GRCh37 FGFR2 missense p.M536I endometrial adenocarcinoma 23908597 ENST00000457416:c.1608G>C 10 123258076 123258076 C G GRCh37 FGFR2 missense p.M536I endometrial adenocarcinoma 23908597 ENST00000457416:c.1608G>A 10 123258076 123258076 C T GRCh37 FGFR2 missense p.M536I endometrial adenocarcinoma 23908597 ENST00000369056:c.1573A>G 10 123258111 123258111 T C GRCh37 FGFR2 missense p.T525A craniosynostosis 17803937 ENST00000369058:c.1148G>A 10 123274773 123274773 C T GRCh37 FGFR2 missense p.C383Y uterine corpus endometrial carcinoma,gastric adenocarcinoma,esophageal carcinoma 26619011 ENST00000351936:c.1145G>A 10 123274773 123274773 C T GRCh37 FGFR2 missense p.C382Y uterine corpus endometrial carcinoma,gastric adenocarcinoma,esophageal carcinoma 26619011 ENST00000369058:c.1147T>C 10 123274774 123274774 A G GRCh37 FGFR2 missense p.C383R uterine corpus endometrial carcinoma,gastric adenocarcinoma,esophageal carcinoma 26619011 ENST00000457416:c.1144T>C 10 123274777 123274777 A G GRCh37 FGFR2 missense p.Y382H endometrial carcinoma 25157968 ENST00000369056:c.1144T>C 10 123274777 123274777 A G GRCh37 FGFR2 missense p.Y382H uterine corpus endometrial carcinoma,gastric adenocarcinoma,esophageal carcinoma 26619011 ENST00000457416:c.1127A>G 10 123274794 123274794 T C GRCh37 FGFR2 missense p.Y376C endometrial carcinoma 21367659,25157968 ENST00000369058:c.1124A>G 10 123274797 123274797 T C GRCh37 FGFR2 missense p.D375G endometrial carcinoma 17525745 ENST00000457416:c.1118C>G 10 123274803 123274803 G C GRCh37 FGFR2 missense p.S373C endometrial carcinoma 21367659,25157968 ENST00000351936:c.1025G>A 10 123276892 123276892 C T GRCh37 FGFR2 missense p.C342Y Crouzon syndrome 10851026 ENST00000457416:c.959C>G 10 123278324 123278324 G C GRCh37 FGFR2 missense p.S320C lung squamous cell carcinoma 23786770 ENST00000457416:c.929A>G 10 123279503 123279503 T C GRCh37 FGFR2 missense p.K310R endometrial carcinoma 25157968 ENST00000457416:c.870G>C 10 123279562 123279562 C G GRCh37 FGFR2 missense p.W290C lung squamous cell carcinoma 23786770 ENST00000457416:c.758C>G 10 123279674 123279674 G C GRCh37 FGFR2 missense p.P253R head and neck cancer 23786770 ENST00000457416:c.755C>G 10 123279677 123279677 G C GRCh37 FGFR2 missense p.S252W endometrial carcinoma,endometrial adenocarcinoma 21367659,18552176,22238366,23002168,25157968 ENST00000351936:c.755C>G 10 123279677 123279677 G C GRCh37 FGFR2 missense p.S252W uterine corpus endometrial carcinoma,gastric adenocarcinoma,uterine carcinosarcoma,acrocephalosyndactylia 26619011,10851026 ENST00000306010:c.66C>T 10 131265545 131265545 C T GRCh37 MGMT synonymous p.R22 glioblastoma multiforme 25910840 ENST00000397594:c.437C>T 11 533466 533466 G A GRCh37 HRAS missense p.A146V colorectal cancer,multiple myeloma,gastric adenocarcinoma,lung adenocarcinoma,acute myeloid leukemia,cervix carcinoma 26619011 ENST00000397594:c.436G>A 11 533467 533467 C T GRCh37 HRAS missense p.A146T colorectal cancer,multiple myeloma,gastric adenocarcinoma,lung adenocarcinoma,acute myeloid leukemia,cervix carcinoma 26619011 ENST00000311189:c.436G>C 11 533467 533467 C G GRCh37 HRAS missense p.A146P colorectal cancer,multiple myeloma,gastric adenocarcinoma,lung adenocarcinoma,acute myeloid leukemia,cervix carcinoma 26619011 ENST00000311189:c.183G>T 11 533873 533873 C A GRCh37 HRAS missense p.Q61H cancer 25157968 ENST00000311189:c.183G>C 11 533873 533873 C G GRCh37 HRAS missense p.Q61H cancer 25157968 ENST00000311189:c.182AG>GT 11 533873 533874 CT AC GRCh37 HRAS missense p.Q61R cancer 25157968 ENST00000311189:c.182AG>GA 11 533873 533874 CT TC GRCh37 HRAS missense p.Q61R cancer 25157968 ENST00000451590:c.183G>T 11 533873 533873 C A GRCh37 HRAS missense p.Q61H thyroid carcinoma,urinary bladder urothelial carcinoma,head and neck squamous cell carcinoma,skin melanoma,skin squamous cell carcinoma,prostate adenocarcinoma,lung squamous cell carcinoma,lung adenocarcinoma,breast cancer 26619011 ENST00000311189:c.182A>T 11 533874 533874 T A GRCh37 HRAS missense p.Q61L skin squamous cell carcinoma,thyroid carcinoma,urinary bladder urothelial carcinoma,head and neck squamous cell carcinoma,skin melanoma,prostate adenocarcinoma,lung squamous cell carcinoma,lung adenocarcinoma,breast cancer,pancreas adenocarcinoma,multiple myeloma,colorectal cancer,uterine corpus endometrial carcinoma,gastric adenocarcinoma,hepatocellular carcinoma,acute myeloid leukemia,chronic lymphocytic leukemia 22256804,22726224,25157968,26619011 ENST00000311189:c.182A>G 11 533874 533874 T C GRCh37 HRAS missense p.Q61R thyroid cancer,cancer 17384584,19255327,19773371,23406027,25157968 ENST00000311189:c.182A>C 11 533874 533874 T G GRCh37 HRAS missense p.Q61P cancer 25157968 ENST00000397594:c.182A>G 11 533874 533874 T C GRCh37 HRAS missense p.Q61R thyroid carcinoma,urinary bladder urothelial carcinoma,head and neck squamous cell carcinoma,skin melanoma,skin squamous cell carcinoma,prostate adenocarcinoma,lung squamous cell carcinoma,lung adenocarcinoma,breast cancer,pancreas adenocarcinoma,multiple myeloma,colorectal cancer,uterine corpus endometrial carcinoma,gastric adenocarcinoma,hepatocellular carcinoma,acute myeloid leukemia,chronic lymphocytic leukemia 26619011 ENST00000397594:c.182A>C 11 533874 533874 T G GRCh37 HRAS missense p.Q61P pancreas adenocarcinoma,multiple myeloma,colorectal cancer,lung adenocarcinoma,uterine corpus endometrial carcinoma,thyroid carcinoma,gastric adenocarcinoma,urinary bladder urothelial carcinoma,skin melanoma,lung squamous cell carcinoma,hepatocellular carcinoma,acute myeloid leukemia,chronic lymphocytic leukemia 26619011 ENST00000311189:c.181C>A 11 533875 533875 G T GRCh37 HRAS missense p.Q61K breast cancer 25157968 ENST00000397594:c.181C>A 11 533875 533875 G T GRCh37 HRAS missense p.Q61K thyroid carcinoma,urinary bladder urothelial carcinoma,head and neck squamous cell carcinoma,skin melanoma,skin squamous cell carcinoma,prostate adenocarcinoma,lung squamous cell carcinoma,lung adenocarcinoma,breast cancer,pancreas adenocarcinoma,multiple myeloma,colorectal cancer,uterine corpus endometrial carcinoma,gastric adenocarcinoma,hepatocellular carcinoma,acute myeloid leukemia,chronic lymphocytic leukemia 26619011 ENST00000311189:c.181C>G 11 533875 533875 G C GRCh37 HRAS missense p.Q61E pancreas adenocarcinoma,multiple myeloma,colorectal cancer,lung adenocarcinoma,uterine corpus endometrial carcinoma,thyroid carcinoma,gastric adenocarcinoma,urinary bladder urothelial carcinoma,skin melanoma,lung squamous cell carcinoma,hepatocellular carcinoma,acute myeloid leukemia,chronic lymphocytic leukemia 26619011 ENST00000311189:c.38G>T 11 534285 534285 C A GRCh37 HRAS missense p.G13V thymic carcinoma 20859122,25157968 ENST00000451590:c.38G>A 11 534285 534285 C T GRCh37 HRAS missense p.G13D colorectal cancer 26561417 ENST00000397594:c.38G>T 11 534285 534285 C A GRCh37 HRAS missense p.G13V head and neck squamous cell carcinoma,urinary bladder urothelial carcinoma,skin melanoma,lung squamous cell carcinoma,lung adenocarcinoma,skin squamous cell carcinoma,breast cancer,colorectal cancer,uterine corpus endometrial carcinoma,gastric adenocarcinoma,multiple myeloma,pancreas adenocarcinoma,chronic lymphocytic leukemia,cervix carcinoma,hepatocellular carcinoma,acute myeloid leukemia 26619011 ENST00000397594:c.38G>A 11 534285 534285 C T GRCh37 HRAS missense p.G13D head and neck squamous cell carcinoma,urinary bladder urothelial carcinoma,skin melanoma,lung squamous cell carcinoma,lung adenocarcinoma,skin squamous cell carcinoma,breast cancer,colorectal cancer,uterine corpus endometrial carcinoma,gastric adenocarcinoma,multiple myeloma,pancreas adenocarcinoma,chronic lymphocytic leukemia,cervix carcinoma,hepatocellular carcinoma,acute myeloid leukemia 26619011 ENST00000397594:c.38G>C 11 534285 534285 C G GRCh37 HRAS missense p.G13A colorectal cancer,lung adenocarcinoma,uterine corpus endometrial carcinoma,gastric adenocarcinoma,multiple myeloma,pancreas adenocarcinoma,chronic lymphocytic leukemia,cervix carcinoma,hepatocellular carcinoma,acute myeloid leukemia 26619011 ENST00000311189:c.37G>T 11 534286 534286 C A GRCh37 HRAS missense p.G13C thyroid cancer,cancer 17384584,19255327,19773371,23406027,25157968 ENST00000311189:c.37G>C 11 534286 534286 C G GRCh37 HRAS missense p.G13R thyroid cancer 17384584,19255327,19773371,23406027,25157968 ENST00000311189:c.37G>A 11 534286 534286 C T GRCh37 HRAS missense p.G13S cancer 25157968 ENST00000397594:c.37G>C 11 534286 534286 C G GRCh37 HRAS missense p.G13R head and neck squamous cell carcinoma,urinary bladder urothelial carcinoma,skin melanoma,lung squamous cell carcinoma,lung adenocarcinoma,skin squamous cell carcinoma,breast cancer,colorectal cancer,uterine corpus endometrial carcinoma,gastric adenocarcinoma,multiple myeloma,pancreas adenocarcinoma,chronic lymphocytic leukemia,cervix carcinoma,hepatocellular carcinoma,acute myeloid leukemia 26619011 ENST00000397594:c.37G>T 11 534286 534286 C A GRCh37 HRAS missense p.G13C head and neck squamous cell carcinoma,urinary bladder urothelial carcinoma,skin melanoma,lung squamous cell carcinoma,lung adenocarcinoma,skin squamous cell carcinoma,breast cancer,colorectal cancer,uterine corpus endometrial carcinoma,gastric adenocarcinoma,multiple myeloma,pancreas adenocarcinoma,chronic lymphocytic leukemia,cervix carcinoma,hepatocellular carcinoma,acute myeloid leukemia 26619011 ENST00000397594:c.37G>A 11 534286 534286 C T GRCh37 HRAS missense p.G13S head and neck squamous cell carcinoma,urinary bladder urothelial carcinoma,skin melanoma,lung squamous cell carcinoma,lung adenocarcinoma,skin squamous cell carcinoma,breast cancer 26619011 ENST00000311189:c.35G>T 11 534288 534288 C A GRCh37 HRAS missense p.G12V thyroid cancer,melanoma 17384584,19255327,19773371,23406027,25157968 ENST00000311189:c.35G>A 11 534288 534288 C T GRCh37 HRAS missense p.G12D breast cancer 25157968 ENST00000397594:c.35G>A 11 534288 534288 C T GRCh37 HRAS missense p.G12D head and neck squamous cell carcinoma,urinary bladder urothelial carcinoma,skin squamous cell carcinoma,salivary gland adenoid cystic carcinoma,pancreas adenocarcinoma,lung adenocarcinoma,colorectal cancer,uterine corpus endometrial carcinoma,gastric adenocarcinoma,multiple myeloma,uterine carcinosarcoma,cervix carcinoma,ovarian serous cystadenocarcinoma,breast cancer,acute myeloid leukemia,esophageal carcinoma,skin melanoma,papillary renal cell carcinoma,glioblastoma multiforme,thyroid carcinoma,prostate adenocarcinoma,nasopharynx carcinoma,myelodysplastic syndrome,hepatocellular carcinoma 26619011 ENST00000397594:c.35G>C 11 534288 534288 C G GRCh37 HRAS missense p.G12A head and neck squamous cell carcinoma,urinary bladder urothelial carcinoma,skin squamous cell carcinoma,salivary gland adenoid cystic carcinoma,pancreas adenocarcinoma,lung adenocarcinoma,colorectal cancer,uterine corpus endometrial carcinoma,gastric adenocarcinoma,multiple myeloma,uterine carcinosarcoma,cervix carcinoma,ovarian serous cystadenocarcinoma,breast cancer,acute myeloid leukemia,esophageal carcinoma,skin melanoma,papillary renal cell carcinoma,glioblastoma multiforme,thyroid carcinoma,prostate adenocarcinoma,nasopharynx carcinoma,myelodysplastic syndrome,hepatocellular carcinoma 26619011 ENST00000397594:c.35G>T 11 534288 534288 C A GRCh37 HRAS missense p.G12V head and neck squamous cell carcinoma,urinary bladder urothelial carcinoma,skin squamous cell carcinoma,salivary gland adenoid cystic carcinoma,pancreas adenocarcinoma,lung adenocarcinoma,colorectal cancer,uterine corpus endometrial carcinoma,gastric adenocarcinoma,multiple myeloma,uterine carcinosarcoma,cervix carcinoma,ovarian serous cystadenocarcinoma,breast cancer,acute myeloid leukemia,esophageal carcinoma,skin melanoma,papillary renal cell carcinoma,glioblastoma multiforme,thyroid carcinoma,prostate adenocarcinoma,nasopharynx carcinoma,myelodysplastic syndrome,hepatocellular carcinoma 26619011 ENST00000311189:c.34G>C 11 534289 534289 C G GRCh37 HRAS missense p.G12R colorectal cancer,thyroid cancer 16478791,17384584,19255327,19773371,23406027,25157968 ENST00000311189:c.34G>T 11 534289 534289 C A GRCh37 HRAS missense p.G12C bladder carcinoma 25157968 ENST00000397594:c.34G>A 11 534289 534289 C T GRCh37 HRAS missense p.G12S head and neck squamous cell carcinoma,urinary bladder urothelial carcinoma,skin squamous cell carcinoma,salivary gland adenoid cystic carcinoma,pancreas adenocarcinoma,lung adenocarcinoma,colorectal cancer,uterine corpus endometrial carcinoma,gastric adenocarcinoma,multiple myeloma,uterine carcinosarcoma,cervix carcinoma,ovarian serous cystadenocarcinoma,breast cancer,acute myeloid leukemia,esophageal carcinoma,skin melanoma,papillary renal cell carcinoma,glioblastoma multiforme,thyroid carcinoma,prostate adenocarcinoma,nasopharynx carcinoma,myelodysplastic syndrome,hepatocellular carcinoma 26619011 ENST00000397594:c.34G>T 11 534289 534289 C A GRCh37 HRAS missense p.G12C head and neck squamous cell carcinoma,urinary bladder urothelial carcinoma,skin squamous cell carcinoma,salivary gland adenoid cystic carcinoma,pancreas adenocarcinoma,lung adenocarcinoma,colorectal cancer,uterine corpus endometrial carcinoma,gastric adenocarcinoma,multiple myeloma,uterine carcinosarcoma,cervix carcinoma,ovarian serous cystadenocarcinoma,breast cancer,acute myeloid leukemia,esophageal carcinoma,skin melanoma,papillary renal cell carcinoma,glioblastoma multiforme,thyroid carcinoma,prostate adenocarcinoma,nasopharynx carcinoma,myelodysplastic syndrome,hepatocellular carcinoma 26619011 ENST00000397594:c.34G>C 11 534289 534289 C G GRCh37 HRAS missense p.G12R pancreas adenocarcinoma,lung adenocarcinoma,colorectal cancer,uterine corpus endometrial carcinoma,gastric adenocarcinoma,multiple myeloma,uterine carcinosarcoma,cervix carcinoma,ovarian serous cystadenocarcinoma,breast cancer,urinary bladder urothelial carcinoma,acute myeloid leukemia,esophageal carcinoma,skin melanoma,papillary renal cell carcinoma,glioblastoma multiforme,thyroid carcinoma,prostate adenocarcinoma,nasopharynx carcinoma,myelodysplastic syndrome,hepatocellular carcinoma 26619011 ENST00000447869:c.969T>G 11 8457665 8457665 A C GRCh37 STK33 missense p.F323L pancreatic cancer 20581473 ENST00000332351:c.1142insTGTACGGT 11 32417909 32417910 - ACCGTACA GRCh37 WT1 protein_altering_variant p.S381LYG acute myeloid leukemia 24374862,24422723,24521058,24659740,24667279,24671364 ENST00000322535:c.1997A>C 11 65830499 65830499 A C GRCh37 SF3B2 missense p.H666P chronic lymphocytic leukemia,skin melanoma,hepatocellular carcinoma,breast cancer 26619011 ENST00000322535:c.2099A>G 11 65830884 65830884 A G GRCh37 SF3B2 missense p.E700G breast cancer,chronic lymphocytic leukemia,pancreas adenocarcinoma,myelodysplastic syndrome,medulloblastoma,acute myeloid leukemia,renal clear cell carcinoma 26619011 ENST00000398606:c.313A>G 11 67352689 67352689 A G GRCh37 GSTP1 missense p.I105V colorectal cancer 19922504 ENST00000278616:c.8623A>C 11 108218044 108218044 A C GRCh37 ATM missense p.N2875H prostate cancer 26510020 ENST00000264033:c.1111T>C 11 119148891 119148891 T C GRCh37 CBL missense p.Y371H hematologic cancer 23696637 ENST00000264033:c.1150T>C 11 119148930 119148930 T C GRCh37 CBL missense p.C384R hematologic cancer 23696637 ENST00000256078:c.437C>T 12 25378561 25378561 G A GRCh37 KRAS missense p.A146V colorectal cancer,thyroid cancer,non-small cell lung carcinoma 16361624,16618717,18316791,19114683,19255327,19679400,19773371,20921462,20921465,21228335,23406027,24836576 ENST00000256078:c.436G>A 12 25378562 25378562 C T GRCh37 KRAS missense p.A146T colorectal cancer 21398618,16361624,16618717,18316791,19114683,19679400,20921462,20921465,21228335,25157968 ENST00000256078:c.436G>C 12 25378562 25378562 C G GRCh37 KRAS missense p.A146P colorectal cancer 16361624,16618717,18316791,19114683,19679400,20921462,20921465,21228335 ENST00000256078:c.351A>T 12 25378647 25378647 T A GRCh37 KRAS missense p.K117N colorectal cancer 16361624,16618717,18316791,19114683,19679400,20921462,20921465,21228335 ENST00000256078:c.351A>C 12 25378647 25378647 T G GRCh37 KRAS missense p.K117N colorectal cancer,multiple myeloma,gastric adenocarcinoma,skin melanoma,hepatocellular carcinoma,esophageal carcinoma 16361624,16618717,18316791,19114683,19679400,20921462,20921465,21228335,26619011 ENST00000256078:c.183A>T 12 25380275 25380275 T A GRCh37 KRAS missense p.Q61H colorectal cancer,non-small cell lung carcinoma,acute myeloid leukemia,pancreas adenocarcinoma,multiple myeloma,lung adenocarcinoma,uterine corpus endometrial carcinoma,thyroid carcinoma,gastric adenocarcinoma,urinary bladder urothelial carcinoma,skin melanoma,lung squamous cell carcinoma,hepatocellular carcinoma,chronic lymphocytic leukemia 22722830,23325582,12460918,16361624,16618717,18316791,18794081,19114683,19679400,20921462,20921465,21228335,2278970,3122217,16434492,19075190,22407852,25157968,26619011 ENST00000256078:c.183A>C 12 25380275 25380275 T G GRCh37 KRAS missense p.Q61H colorectal cancer,non-small cell lung carcinoma,acute myeloid leukemia 22722830,23325582,12460918,16361624,16618717,18316791,18794081,19114683,19679400,20921462,20921465,21228335,2278970,3122217,16434492,19075190,22407852,25157968 ENST00000256078:c.182A>T 12 25380276 25380276 T A GRCh37 KRAS missense p.Q61L non-small cell lung carcinoma,colorectal cancer,thyroid cancer 12460918,16361624,16618717,17384584,18316791,18794081,19114683,19255327,19679400,19773371,20921462,20921465,21228335,23406027,25157968 ENST00000256078:c.182A>G 12 25380276 25380276 T C GRCh37 KRAS missense p.Q61R non-small cell lung carcinoma,colorectal cancer,thyroid cancer 12460918,16361624,16618717,17384584,18316791,18794081,19114683,19255327,19679400,19773371,20921462,20921465,21228335,23406027,25157968 ENST00000256078:c.182A>C 12 25380276 25380276 T G GRCh37 KRAS missense p.Q61P thyroid cancer,colorectal cancer 17384584,19255327,19773371,23406027,25157968 ENST00000256078:c.181C>A 12 25380277 25380277 G T GRCh37 KRAS missense p.Q61K non-small cell lung carcinoma,colorectal cancer,thyroid cancer 12460918,16361624,16618717,17384584,18316791,18794081,19114683,19255327,19679400,19773371,20921462,20921465,21228335,23406027,25157968 ENST00000256078:c.181C>G 12 25380277 25380277 G C GRCh37 KRAS missense p.Q61E colorectal cancer 25157968 ENST00000256078:c.175G>A 12 25380283 25380283 C T GRCh37 KRAS missense p.A59T colorectal cancer 21398618,25157968 ENST00000256078:c.64C>A 12 25398255 25398255 G T GRCh37 KRAS missense p.Q22K colorectal cancer 25157968 ENST00000256078:c.64C>T 12 25398255 25398255 G A GRCh37 KRAS stop_lost p.Q22* colon mucinous adenocarcinoma 19661358 ENST00000256078:c.57G>T 12 25398262 25398262 C A GRCh37 KRAS missense p.L19F angiosarcoma 24740626,25157968 ENST00000256078:c.57G>C 12 25398262 25398262 C G GRCh37 KRAS missense p.L19F angiosarcoma 24740626,25157968 ENST00000256078:c.38G>T 12 25398281 25398281 C A GRCh37 KRAS missense p.G13V thyroid cancer,colorectal cancer 24628546,16361624,16618717,18316791,19114683,19679400,20921462,20921465,21228335,25157968 ENST00000256078:c.38G>A 12 25398281 25398281 C T GRCh37 KRAS missense p.G13D colorectal cancer,non-small cell lung carcinoma,thyroid cancer,ovarian cancer,acute myeloid leukemia 21398618,23182985,24558511,12460918,16361624,16618717,17384584,18316791,18794081,19018267,19114683,19255327,19679400,19773371,20921462,20921465,21228335,21975775,22392911,22734028,23406027,2278970,3122217,16434492,19075190,22407852,25157968,26623049,26812186,26371285,20978259 ENST00000256078:c.38G>C 12 25398281 25398281 C G GRCh37 KRAS missense p.G13A non-small cell lung carcinoma,colorectal cancer 12460918,16361624,16618717,18316791,18794081,19114683,19679400,20921462,20921465,21228335,25157968 ENST00000256078:c.37G>T 12 25398282 25398282 C A GRCh37 KRAS missense p.G13C colorectal cancer,non-small cell lung carcinoma 20921462,20921465,21228335,12460918,16361624,16618717,18316791,18794081,19114683,19679400,25157968 ENST00000256078:c.37G>C 12 25398282 25398282 C G GRCh37 KRAS missense p.G13R non-small cell lung carcinoma,colorectal cancer,thyroid cancer 12460918,16361624,16618717,17384584,18316791,18794081,19114683,19255327,19679400,19773371,20921462,20921465,21228335,23406027,25157968 ENST00000256078:c.37G>A 12 25398282 25398282 C T GRCh37 KRAS missense p.G13S non-small cell lung carcinoma,colorectal cancer,thyroid cancer 12460918,16361624,16618717,17384584,18316791,18794081,19114683,19255327,19679400,19773371,20921462,20921465,21228335,23406027,25157968 ENST00000256078:c.35G>T 12 25398284 25398284 C A GRCh37 KRAS missense p.G12V non-small cell lung carcinoma,colorectal cancer,thyroid cancer,ovarian cancer,acute myeloid leukemia 21398618,22235099,22897852,19881948,16361624,16618717,17384584,18316791,19018267,19114683,19255327,19679400,19773371,20921462,20921465,21228335,21975775,23406027,2278970,3122217,16434492,19075190,22407852,25157968,20609353,26372703,26125448 ENST00000256078:c.35G>C 12 25398284 25398284 C G GRCh37 KRAS missense p.G12A gastrointestinal stromal tumor,non-small cell lung carcinoma,colorectal cancer,ovarian cancer,lung adenocarcinoma 22282465,12460918,16361624,16618717,18316791,18794081,19018267,19114683,19679400,20921462,20921465,21228335,21975775,23182985,25157968,19794967 ENST00000256078:c.35G>A 12 25398284 25398284 C T GRCh37 KRAS missense p.G12D non-small cell lung carcinoma,colorectal cancer,thyroid cancer,ovarian cancer,lung cancer,acute myeloid leukemia,pancreatic carcinoma,tumor of exocrine pancreas,pancreatic cancer 12460918,16361624,16618717,17384584,18316791,18794081,19018267,19114683,19255327,19679400,19773371,20921462,20921465,21228335,21975775,23406027,25044103,16434492,19075190,22407852,2278970,3122217,25157968,23014527,19029981,22025163,22948721,23565280,27010960 ENST00000256078:c.34G>T 12 25398285 25398285 C A GRCh37 KRAS missense p.G12C non-small cell lung carcinoma,colorectal cancer,thyroid cancer,ovarian cancer,lung adenocarcinoma,lung cancer,cancer 12460918,16361624,16618717,17384584,18316791,18794081,19018267,19114683,19255327,19679400,19773371,20921462,20921465,21228335,21975775,23406027,25044103,23182985,25157968,23014527,23313110,22247021,26739882,26125448 ENST00000256078:c.34G>C 12 25398285 25398285 C G GRCh37 KRAS missense p.G12R non-small cell lung carcinoma,colorectal cancer,thyroid cancer,ovarian cancer,pancreatic cancer 12460918,16361624,16618717,17384584,18316791,18794081,19018267,19114683,19255327,19679400,19773371,20921462,20921465,21228335,21975775,23406027,22722830,23182985,25157968,22983505 ENST00000256078:c.34G>A 12 25398285 25398285 C T GRCh37 KRAS missense p.G12S non-small cell lung carcinoma,colorectal cancer,thyroid cancer 12460918,16361624,16618717,17384584,18316791,18794081,19114683,19255327,19679400,19773371,20921462,20921465,21228335,23406027,18594010,25157968 ENST00000267101:c.310G>A 12 56478854 56478854 G A GRCh37 ERBB3 missense p.V104M gastric adenocarcinoma,colorectal cancer,cervix carcinoma,urinary bladder urothelial carcinoma,gallbladder carcinoma,uterine carcinosarcoma,uterine corpus endometrial carcinoma,breast cancer 26619011 ENST00000267101:c.310G>T 12 56478854 56478854 G T GRCh37 ERBB3 missense p.V104L gastric adenocarcinoma,colorectal cancer,cervix carcinoma,urinary bladder urothelial carcinoma,gallbladder carcinoma,uterine carcinosarcoma,uterine corpus endometrial carcinoma,breast cancer 26619011 ENST00000267101:c.785C>A 12 56481857 56481857 C A GRCh37 ERBB3 missense p.P262H cancer 23680147 ENST00000267101:c.850G>A 12 56481922 56481922 G A GRCh37 ERBB3 missense p.G284R colon cancer,stomach cancer 23680147 ENST00000267101:c.889G>T 12 56482341 56482341 G T GRCh37 ERBB3 missense p.D297Y uterine corpus endometrial carcinoma,gastric adenocarcinoma,breast cancer,urinary bladder urothelial carcinoma,uterine carcinosarcoma 26619011 ENST00000267101:c.889G>A 12 56482341 56482341 G A GRCh37 ERBB3 missense p.D297N uterine corpus endometrial carcinoma,gastric adenocarcinoma,breast cancer,urinary bladder urothelial carcinoma,uterine carcinosarcoma 26619011 ENST00000267101:c.890A>T 12 56482342 56482342 A T GRCh37 ERBB3 missense p.D297V uterine corpus endometrial carcinoma,gastric adenocarcinoma,breast cancer,urinary bladder urothelial carcinoma,uterine carcinosarcoma 26619011 ENST00000267101:c.2426A>G 12 56490980 56490980 A G GRCh37 ERBB3 missense p.Q809R cancer 23680147 ENST00000257904:c.71G>A 12 58145430 58145430 C T GRCh37 CDK4 missense p.R24H melanoma,skin melanoma,lung adenocarcinoma,multiple myeloma 25157968,26619011 ENST00000312990:c.71G>T 12 58145430 58145430 C A GRCh37 CDK4 missense p.R24L skin melanoma,lung adenocarcinoma,multiple myeloma 26619011 ENST00000257904:c.70C>T 12 58145431 58145431 G A GRCh37 CDK4 missense p.R24C skin melanoma,lung adenocarcinoma,multiple myeloma 26619011 ENST00000312990:c.70C>A 12 58145431 58145431 G T GRCh37 CDK4 missense p.R24S skin melanoma,lung adenocarcinoma,multiple myeloma 26619011 ENST00000351677:c.214G>A 12 112888198 112888198 G A GRCh37 PTPN11 missense p.A72T neuroblastoma,brain glioma,chronic lymphocytic leukemia,acute myeloid leukemia 26619011 ENST00000351677:c.215C>T 12 112888199 112888199 C T GRCh37 PTPN11 missense p.A72V neuroblastoma,brain glioma,chronic lymphocytic leukemia,acute myeloid leukemia 26619011 ENST00000351677:c.215C>A 12 112888199 112888199 C A GRCh37 PTPN11 missense p.A72D neuroblastoma,brain glioma,chronic lymphocytic leukemia,acute myeloid leukemia 26619011 ENST00000351677:c.226G>A 12 112888210 112888210 G A GRCh37 PTPN11 missense p.E76K multiple myeloma,colorectal cancer,pilocytic astrocytoma,neuroblastoma,lung squamous cell carcinoma 26619011 ENST00000351677:c.227A>C 12 112888211 112888211 A C GRCh37 PTPN11 missense p.E76A multiple myeloma,colorectal cancer,pilocytic astrocytoma,neuroblastoma,lung squamous cell carcinoma 26619011 ENST00000351677:c.227A>G 12 112888211 112888211 A G GRCh37 PTPN11 missense p.E76G multiple myeloma,colorectal cancer,pilocytic astrocytoma,neuroblastoma,lung squamous cell carcinoma 26619011 ENST00000351677:c.1508G>T 12 112926888 112926888 G T GRCh37 PTPN11 missense p.G503V gastric adenocarcinoma,lung adenocarcinoma,multiple myeloma,lung squamous cell carcinoma,colorectal cancer 26619011 ENST00000320574:c.1231G>T 12 133250289 133250289 C A GRCh37 POLE missense p.V411L uterine corpus endometrial carcinoma,colorectal cancer,gastric adenocarcinoma,glioblastoma multiforme 26619011 ENST00000320574:c.857C>G 12 133253184 133253184 G C GRCh37 POLE missense p.P286R uterine corpus endometrial carcinoma,colorectal cancer,uterine carcinosarcoma,pancreas adenocarcinoma,breast cancer 26619011 ENST00000320574:c.857C>A 12 133253184 133253184 G T GRCh37 POLE missense p.P286H uterine corpus endometrial carcinoma,colorectal cancer,uterine carcinosarcoma,pancreas adenocarcinoma,breast cancer 26619011 ENST00000320574:c.856C>T 12 133253185 133253185 G A GRCh37 POLE missense p.P286S uterine corpus endometrial carcinoma,colorectal cancer,uterine carcinosarcoma,pancreas adenocarcinoma,breast cancer 26619011 ENST00000380982:c.2525A>G 13 28592620 28592620 T C GRCh37 FLT3 missense p.Y842C acute myeloid leukemia 22504184,23430109,24619500 ENST00000380982:c.2524T>C 13 28592621 28592621 A G GRCh37 FLT3 missense p.Y842H acute myeloid leukemia 22504184,23430109,24619500 ENST00000241453:c.2523C>A 13 28592622 28592622 G T GRCh37 FLT3 missense p.N841K acute myeloid leukemia 15625552 ENST00000241453:c.2521A>C 13 28592624 28592624 T G GRCh37 FLT3 missense p.N841H acute myeloid leukemia 16990784 ENST00000380982:c.2516A>G 13 28592629 28592629 T C GRCh37 FLT3 missense p.D839G acute myeloid leukemia 15667533 ENST00000241453:c.2516A>G 13 28592629 28592629 T C GRCh37 FLT3 missense p.D839G acute myeloid leukemia 16990784 ENST00000380982:c.2508C>G 13 28592637 28592637 G C GRCh37 FLT3 missense p.I836M acute myeloid leukemia 22368270,22504186,23261068,23321257,23714533,23783394,25157968,19840437 ENST00000380982:c.2506delATC 13 28592637 28592639 GAT - GRCh37 FLT3 inframe p.I836- acute myeloid leukemia 25157968 ENST00000380982:c.2507T>G 13 28592638 28592638 A C GRCh37 FLT3 missense p.I836S acute myeloid leukemia 14737077 ENST00000380982:c.2506A>C 13 28592639 28592639 T G GRCh37 FLT3 missense p.I836L acute myeloid leukemia 22368270,22504186,23261068,23321257,23714533,23783394,15863200 ENST00000380982:c.2506A>G 13 28592639 28592639 T C GRCh37 FLT3 missense p.I836V acute myeloid leukemia 16573742 ENST00000380982:c.2506A>T 13 28592639 28592639 T A GRCh37 FLT3 missense p.I836F acute myeloid leukemia 16371029 ENST00000380982:c.2505T>G 13 28592640 28592640 A C GRCh37 FLT3 missense p.D835E acute myeloid leukemia 11290608,15256420,16857985,19657110,20733134,22368270,22504183,22504184,23261068,23321257,23430109,23714533,23783394,15374878,25157968 ENST00000380982:c.2505T>A 13 28592640 28592640 A T GRCh37 FLT3 missense p.D835E acute myeloid leukemia 11290608,15256420,16857985,19657110,20733134,22368270,22504183,22504184,23261068,23321257,23430109,23714533,23783394,15374878,25157968 ENST00000380982:c.2503delGAT 13 28592640 28592642 ATC - GRCh37 FLT3 inframe p.D835- acute myeloid leukemia 25157968 ENST00000241453:c.2505T>G 13 28592640 28592640 A C GRCh37 FLT3 missense p.D835E acute myeloid leukemia 26619011 ENST00000241453:c.2505T>A 13 28592640 28592640 A T GRCh37 FLT3 missense p.D835E acute myeloid leukemia 19603346 ENST00000380982:c.2504A>T 13 28592641 28592641 T A GRCh37 FLT3 missense p.D835V acute myeloid leukemia 11290608,15256420,16857985,19657110,20733134,22368270,22504183,22504184,23261068,23321257,23430109,23714533,23783394,14604974,17606455,24046014,25157968 ENST00000380982:c.2504A>C 13 28592641 28592641 T G GRCh37 FLT3 missense p.D835A acute myeloid leukemia 16857985,20733134,22368270,22504183,22504184,23261068,23321257,23430109,23714533,23783394 ENST00000380982:c.2503GA>TT 13 28592641 28592642 TC AA GRCh37 FLT3 missense p.D835F acute myeloid leukemia 22504184 ENST00000241453:c.2504A>T 13 28592641 28592641 T A GRCh37 FLT3 missense p.D835V acute myeloid leukemia 26619011,16371029 ENST00000241453:c.2504A>C 13 28592641 28592641 T G GRCh37 FLT3 missense p.D835A acute myeloid leukemia 16213360 ENST00000380982:c.2503G>T 13 28592642 28592642 C A GRCh37 FLT3 missense p.D835Y acute myeloid leukemia 11290608,15256420,16857985,19657110,20733134,22368270,22504183,22504184,23261068,23321257,23430109,23714533,23783394,17889720,25157968 ENST00000380982:c.2503G>C 13 28592642 28592642 C G GRCh37 FLT3 missense p.D835H acute myeloid leukemia 11290608,15256420,16857985,20733134,22368270,22504184,23261068,23321257,23430109,23714533,23783394,14604974,17047150,24046014,25157968 ENST00000380982:c.2503G>A 13 28592642 28592642 C T GRCh37 FLT3 missense p.D835N acute myeloid leukemia 11290608,15256420,16857985,20733134,22368270,22504184,22504185,23261068,23321257,23430109,23714533,23783394 ENST00000241453:c.2503G>T 13 28592642 28592642 C A GRCh37 FLT3 missense p.D835Y acute myeloid leukemia 17940205,17965322,18230792,26619011,15178581,22504184,23430109,19318574,11290608,20733134,22368270 ENST00000241453:c.2503G>C 13 28592642 28592642 C G GRCh37 FLT3 missense p.D835H acute myeloid leukemia 26619011,14737077 ENST00000241453:c.2503G>A 13 28592642 28592642 C T GRCh37 FLT3 missense p.D835N acute myeloid leukemia 16573742 ENST00000380982:c.2073T>G 13 28601359 28601359 A C GRCh37 FLT3 missense p.F691L acute myeloid leukemia 22504184 ENST00000380982:c.2073T>A 13 28601359 28601359 A T GRCh37 FLT3 missense p.F691L acute myeloid leukemia 22504184 ENST00000380982:c.2059A>T 13 28601373 28601373 T A GRCh37 FLT3 missense p.I687F acute myeloid leukemia 22504184,23430109,24619500 ENST00000380982:c.2028C>G 13 28602340 28602340 G C GRCh37 FLT3 missense p.N676K acute myeloid leukemia 23878140,24619500 ENST00000380982:c.2028C>A 13 28602340 28602340 G T GRCh37 FLT3 missense p.N676K acute myeloid leukemia 23878140,24619500 ENST00000241453:c.2028C>A 13 28602340 28602340 G T GRCh37 FLT3 missense p.N676K acute myeloid leukemia 16150941 ENST00000380982:c.2026A>G 13 28602342 28602342 T C GRCh37 FLT3 missense p.N676D acute myeloid leukemia 22504184,23430109,24619500 ENST00000241453:c.1987A>C 13 28602381 28602381 T G GRCh37 FLT3 missense p.K663Q acute myeloid leukemia 16990784 ENST00000380982:c.1952A>G 13 28602416 28602416 T C GRCh37 FLT3 missense p.D651G acute myeloid leukemia 22504184,23430109,24619500 ENST00000380982:c.1855G>T 13 28608111 28608111 C A GRCh37 FLT3 missense p.G619C acute myeloid leukemia 22504184,23430109,24619500 ENST00000241453:c.1780T>C 13 28608276 28608276 A G GRCh37 FLT3 missense p.F594L acute myeloid leukemia 16410449 ENST00000380982:c.1775T>C 13 28608281 28608281 A G GRCh37 FLT3 missense p.V592A acute myeloid leukemia 16410449 ENST00000241453:c.1772A>G 13 28608284 28608284 T C GRCh37 FLT3 missense p.Y591C acute myeloid leukemia 16091740 ENST00000537084:c.1771T>G 13 28608285 28608285 A C GRCh37 FLT3 missense p.Y591D acute myeloid leukemia 16091740 ENST00000241453:c.1736T>C 13 28608320 28608320 A G GRCh37 FLT3 missense p.V579A acute myeloid leukemia 16410449 ENST00000380982:c.1715A>G 13 28608341 28608341 T C GRCh37 FLT3 missense p.Y572C acute myeloid leukemia 25157968 ENST00000267163:c.409G>T 13 48919244 48919244 G T GRCh37 RB1 stop_lost p.E137* cancer 25157968 ENST00000267163:c.596T>A 13 48923148 48923148 T A GRCh37 RB1 stop_lost p.L199* retinoblastoma 25157968 ENST00000267163:c.958C>T 13 48941648 48941648 C T GRCh37 RB1 stop_lost p.R320* retinoblastoma 25754945,25157968 ENST00000267163:c.1072C>T 13 48942685 48942685 C T GRCh37 RB1 stop_lost p.R358* retinoblastoma 25754945,25157968 ENST00000267163:c.1363C>T 13 48953760 48953760 C T GRCh37 RB1 stop_lost p.R455* retinoblastoma 25157968 ENST00000267163:c.1654C>T 13 48955538 48955538 C T GRCh37 RB1 stop_lost p.R552* retinoblastoma 25754945,25157968 ENST00000267163:c.1666C>T 13 48955550 48955550 C T GRCh37 RB1 stop_lost p.R556* cancer 25157968 ENST00000267163:c.1735C>T 13 49027168 49027168 C T GRCh37 RB1 stop_lost p.R579* retinoblastoma 25157968 ENST00000267163:c.2117G>T 13 49037877 49037877 G T GRCh37 RB1 missense p.C706F lung small cell carcinoma 25157968 ENST00000267163:c.2242G>T 13 49039164 49039164 G T GRCh37 RB1 stop_lost p.E748* cancer 25157968 ENST00000349310:c.235C>A 14 105243048 105243048 G T GRCh37 AKT1 missense p.Q79K melanoma 24265152 ENST00000407796:c.235C>A 14 105243048 105243048 G T GRCh37 AKT1 missense p.Q79K melanoma 24265152 ENST00000349310:c.49G>A 14 105246551 105246551 C T GRCh37 AKT1 missense p.E17K breast cancer,endometrial adenocarcinoma,osteosarcoma,meningioma,non-small cell lung carcinoma,lung adenocarcinoma,lung small cell carcinoma,colorectal cancer,prostate cancer,thyroid carcinoma,gastric adenocarcinoma,prostate adenocarcinoma,cervix carcinoma,skin melanoma,lung squamous cell carcinoma,hepatocellular carcinoma,head and neck squamous cell carcinoma,urinary bladder urothelial carcinoma 19418217,19487299,21512767,22538770,22722201,23237847,19853286,24190505,23348505,23728071,22980975,24657128,23700467,23934607,18611285,20233444,17611497,18256540,18392055,18504432,20453058,21464312,22610119,22722839,25157968,26619011 ENST00000407796:c.49G>A 14 105246551 105246551 C T GRCh37 AKT1 missense p.E17K breast cancer,melanoma 23888070,26351323,24735930 ENST00000261609:c.2277delAACGGTCCTGACCTG 15 28505962 28505962 CAGGTCAGGACCGTT - GRCh37 HERC2 frameshift p.D759X breast cancer 16397024,23220880 ENST00000261609:c.2264T>C 15 28505975 28505975 A G GRCh37 HERC2 missense p.L755S breast cancer 23220880 ENST00000261609:c.926C>G 15 28517518 28517518 G C GRCh37 HERC2 missense p.A309G breast cancer 23220880 ENST00000448395:c.71C>T 15 40675107 40675107 C T GRCh37 KNSTRN missense p.S24F skin melanoma,skin squamous cell carcinoma 26619011 ENST00000558401:c.1A>T 15 45003745 45003745 A T GRCh37 B2M start_lost p.M1L multiple myeloma,lung squamous cell carcinoma,non-Hodgkin lymphoma,skin melanoma,lung adenocarcinoma,gastric adenocarcinoma,ovarian serous cystadenocarcinoma,lung small cell carcinoma,head and neck squamous cell carcinoma,colorectal cancer 26619011 ENST00000544417:c.1A>G 15 45003745 45003745 A G GRCh37 B2M start_lost p.M1V skin melanoma,lung adenocarcinoma,gastric adenocarcinoma,ovarian serous cystadenocarcinoma,lung small cell carcinoma,head and neck squamous cell carcinoma,multiple myeloma,lung squamous cell carcinoma,non-Hodgkin lymphoma,colorectal cancer 26619011 ENST00000544417:c.2T>C 15 45003746 45003746 T C GRCh37 B2M start_lost p.M1T skin melanoma,lung adenocarcinoma,gastric adenocarcinoma,ovarian serous cystadenocarcinoma,lung small cell carcinoma,head and neck squamous cell carcinoma,multiple myeloma,lung squamous cell carcinoma,non-Hodgkin lymphoma,colorectal cancer 26619011 ENST00000544417:c.2T>G 15 45003746 45003746 T G GRCh37 B2M start_lost p.M1R skin melanoma,lung adenocarcinoma,gastric adenocarcinoma,ovarian serous cystadenocarcinoma,lung small cell carcinoma,head and neck squamous cell carcinoma,multiple myeloma,lung squamous cell carcinoma,non-Hodgkin lymphoma,colorectal cancer 26619011 ENST00000558401:c.3G>A 15 45003747 45003747 G A GRCh37 B2M start_lost p.M1I skin melanoma,lung adenocarcinoma,gastric adenocarcinoma,ovarian serous cystadenocarcinoma,lung small cell carcinoma,head and neck squamous cell carcinoma,multiple myeloma,lung squamous cell carcinoma,non-Hodgkin lymphoma,colorectal cancer 26619011 ENST00000307102:c.157T>C 15 66727441 66727441 T C GRCh37 MAP2K1 missense p.F53L melanoma 22197931 ENST00000307102:c.157T>G 15 66727441 66727441 T G GRCh37 MAP2K1 missense p.F53V colorectal cancer,gastric adenocarcinoma,skin melanoma,lung adenocarcinoma 26619011 ENST00000307102:c.157T>A 15 66727441 66727441 T A GRCh37 MAP2K1 missense p.F53I colorectal cancer,gastric adenocarcinoma,skin melanoma,lung adenocarcinoma 26619011 ENST00000307102:c.159T>G 15 66727443 66727443 T G GRCh37 MAP2K1 missense p.F53L colorectal cancer,gastric adenocarcinoma,skin melanoma,lung adenocarcinoma 26619011 ENST00000307102:c.167A>C 15 66727451 66727451 A C GRCh37 MAP2K1 missense p.Q56P non-small cell lung carcinoma,melanoma 7651428,18632602,23569304,25157968,19915144 ENST00000307102:c.169A>G 15 66727453 66727453 A G GRCh37 MAP2K1 missense p.K57E melanoma 23569304 ENST00000307102:c.170A>C 15 66727454 66727454 A C GRCh37 MAP2K1 missense p.K57T lung adenocarcinoma,skin melanoma,gastric adenocarcinoma,prostate adenocarcinoma,head and neck squamous cell carcinoma,non-Hodgkin lymphoma 26619011 ENST00000307102:c.171G>T 15 66727455 66727455 G T GRCh37 MAP2K1 missense p.K57N non-small cell lung carcinoma,melanoma,lung adenocarcinoma 18632602,23444215,25157968 ENST00000307102:c.171G>C 15 66727455 66727455 G C GRCh37 MAP2K1 missense p.K57N melanoma,lung adenocarcinoma,skin melanoma,gastric adenocarcinoma,prostate adenocarcinoma,head and neck squamous cell carcinoma,non-Hodgkin lymphoma 23444215,25157968,26619011 ENST00000307102:c.199G>A 15 66727483 66727483 G A GRCh37 MAP2K1 missense p.D67N non-small cell lung carcinoma,melanoma 18060073,18632602,25157968 ENST00000307102:c.296T>C 15 66729088 66729088 T C GRCh37 MAP2K1 missense p.I99T cancer 19915144 ENST00000307102:c.308T>A 15 66729100 66729100 T A GRCh37 MAP2K1 missense p.I103N cancer 19915144,23614898 ENST00000307102:c.332T>G 15 66729124 66729124 T G GRCh37 MAP2K1 missense p.I111S melanoma 22197931,22588879 ENST00000307102:c.332T>A 15 66729124 66729124 T A GRCh37 MAP2K1 missense p.I111N cancer 19915144 ENST00000307102:c.356A>C 15 66729148 66729148 A C GRCh37 MAP2K1 missense p.H119P cancer 19915144 ENST00000307102:c.360G>C 15 66729152 66729152 G C GRCh37 MAP2K1 missense p.E120D cancer 19915144 ENST00000307102:c.360G>T 15 66729152 66729152 G T GRCh37 MAP2K1 missense p.E120D cancer 19915144 ENST00000307102:c.361T>A 15 66729153 66729153 T A GRCh37 MAP2K1 missense p.C121S lung adenocarcinoma 25157968 ENST00000307102:c.362G>C 15 66729154 66729154 G C GRCh37 MAP2K1 missense p.C121S melanoma,lung adenocarcinoma 21383288,22197931,22588879,24448821,25157968 ENST00000307102:c.370C>T 15 66729162 66729162 C T GRCh37 MAP2K1 missense p.P124S melanoma,skin melanoma,uterine corpus endometrial carcinoma,colorectal cancer,urinary bladder urothelial carcinoma 22197931,22588879,19915144,26619011 ENST00000307102:c.371C>T 15 66729163 66729163 C T GRCh37 MAP2K1 missense p.P124L melanoma,skin melanoma,uterine corpus endometrial carcinoma,colorectal cancer,urinary bladder urothelial carcinoma 19915144,21107320,22197931,25157968,26619011 ENST00000307102:c.371C>A 15 66729163 66729163 C A GRCh37 MAP2K1 missense p.P124Q skin melanoma,uterine corpus endometrial carcinoma,colorectal cancer,urinary bladder urothelial carcinoma 26619011 ENST00000307102:c.383G>A 15 66729175 66729175 G A GRCh37 MAP2K1 missense p.G128D melanoma 19915144 ENST00000307102:c.385T>C 15 66729177 66729177 T C GRCh37 MAP2K1 missense p.F129L melanoma 19915144,23614898 ENST00000307102:c.607G>A 15 66774131 66774131 G A GRCh37 MAP2K1 missense p.E203K melanoma 19915144,22197931,23569304 ENST00000307102:c.632T>A 15 66774156 66774156 T A GRCh37 MAP2K1 missense p.V211D cancer 19915144 ENST00000307102:c.644T>C 15 66774168 66774168 T C GRCh37 MAP2K1 missense p.L215P cancer 19915144,23614898 ENST00000307102:c.790C>T 15 66777424 66777424 C T GRCh37 MAP2K1 missense p.P264S melanoma 22197931,22622578 ENST00000307102:c.1144A>C 15 66782915 66782915 A C GRCh37 MAP2K1 missense p.N382H melanoma 22197931 ENST00000268058:c.647C>T 15 74315213 74315213 C T GRCh37 PML missense p.A216V acute promyelocytic leukemia 21613260 ENST00000268058:c.653T>C 15 74315219 74315219 T C GRCh37 PML missense p.L218P acute promyelocytic leukemia 21613260 ENST00000330062:c.516G>C 15 90631837 90631837 C G GRCh37 IDH2 missense p.R172S acute myeloid leukemia 22160010,22417203,22898539,24606448 ENST00000330062:c.515G>T 15 90631838 90631838 C A GRCh37 IDH2 missense p.R172M acute myeloid leukemia,brain glioma,hepatocellular carcinoma,brain stem glioma,colorectal cancer 22160010,22417203,22898539,26619011 ENST00000330062:c.515G>A 15 90631838 90631838 C T GRCh37 IDH2 missense p.R172K acute myeloid leukemia,myelodysplastic syndrome,brain glioma,hepatocellular carcinoma,brain stem glioma,colorectal cancer 20946881,22160010,22397365,22417203,23949315,24606448,21250968,25157968,21596855,21997850,26619011,22616558 ENST00000330062:c.514A>T 15 90631839 90631839 T A GRCh37 IDH2 missense p.R172W brain glioma,acute myeloid leukemia,hepatocellular carcinoma,brain stem glioma,colorectal cancer 26619011 ENST00000330062:c.514A>G 15 90631839 90631839 T C GRCh37 IDH2 missense p.R172G brain glioma,acute myeloid leukemia,hepatocellular carcinoma,brain stem glioma,colorectal cancer 26619011 ENST00000330062:c.419G>A 15 90631934 90631934 C T GRCh37 IDH2 missense p.R140Q acute myeloid leukemia,multiple myeloma,myelodysplastic syndrome,head and neck squamous cell carcinoma,colorectal cancer 25157968,20946881,22160010,22397365,23815907,23949315,24606448,23558173,26619011 ENST00000330062:c.419G>T 15 90631934 90631934 C A GRCh37 IDH2 missense p.R140L acute myeloid leukemia,multiple myeloma,myelodysplastic syndrome,head and neck squamous cell carcinoma,colorectal cancer 22160010,22417203,26619011 ENST00000330062:c.418C>T 15 90631935 90631935 G A GRCh37 IDH2 missense p.R140W acute myeloid leukemia,multiple myeloma,myelodysplastic syndrome,head and neck squamous cell carcinoma,colorectal cancer 22160010,22417203,22898539,26619011 ENST00000219476:c.3532C>T 16 2130300 2130300 C T GRCh37 TSC2 stop_lost p.Q1178* thyroid carcinoma 25295501 ENST00000262367:c.4337G>T 16 3788617 3788617 C A GRCh37 CREBBP missense p.R1446L head and neck squamous cell carcinoma,medulloblastoma,hepatocellular carcinoma,urinary bladder urothelial carcinoma,gastric adenocarcinoma,skin melanoma,lung squamous cell carcinoma,glioblastoma multiforme,colorectal cancer,cervix carcinoma,salivary gland adenoid cystic carcinoma 26619011 ENST00000262367:c.4337G>A 16 3788617 3788617 C T GRCh37 CREBBP missense p.R1446H head and neck squamous cell carcinoma,medulloblastoma,hepatocellular carcinoma,urinary bladder urothelial carcinoma,gastric adenocarcinoma,skin melanoma,lung squamous cell carcinoma,glioblastoma multiforme,colorectal cancer,cervix carcinoma,salivary gland adenoid cystic carcinoma 26619011 ENST00000262367:c.4336C>T 16 3788618 3788618 G A GRCh37 CREBBP missense p.R1446C head and neck squamous cell carcinoma,medulloblastoma,hepatocellular carcinoma,urinary bladder urothelial carcinoma,gastric adenocarcinoma,skin melanoma,lung squamous cell carcinoma,glioblastoma multiforme,colorectal cancer,cervix carcinoma,salivary gland adenoid cystic carcinoma 26619011 ENST00000262367:c.4336C>G 16 3788618 3788618 G C GRCh37 CREBBP missense p.R1446G head and neck squamous cell carcinoma,medulloblastoma,hepatocellular carcinoma,urinary bladder urothelial carcinoma,gastric adenocarcinoma,skin melanoma,lung squamous cell carcinoma,glioblastoma multiforme,colorectal cancer,cervix carcinoma,salivary gland adenoid cystic carcinoma 26619011 ENST00000320623:c.559C>T 16 69745145 69745145 G A GRCh37 NQO1 missense p.P187S lung cancer 21964527 ENST00000359376:c.1993C>T 16 81946260 81946260 C T GRCh37 PLCG2 missense p.R665W chronic lymphocytic leukemia 24869598 ENST00000359376:c.2535A>C 16 81962183 81962183 A C GRCh37 PLCG2 missense p.L845F chronic lymphocytic leukemia 24869598 ENST00000359376:c.2535A>T 16 81962183 81962183 A T GRCh37 PLCG2 missense p.L845F chronic lymphocytic leukemia 24869598 ENST00000269305:c.916C>T 17 7577022 7577022 G A GRCh37 TP53 stop_lost p.R306* colorectal cancer,head and neck cancer 25157968 ENST00000455263:c.857A>G 17 7577081 7577081 T C GRCh37 TP53 missense p.E286G lung adenocarcinoma,breast cancer,gastric adenocarcinoma,head and neck squamous cell carcinoma,skin melanoma,lung small cell carcinoma,hepatocellular carcinoma,skin squamous cell carcinoma,colorectal cancer,pancreas adenocarcinoma,ovarian serous cystadenocarcinoma,brain glioma,acute myeloid leukemia,esophageal carcinoma,urinary bladder urothelial carcinoma 26619011 ENST00000359597:c.857A>T 17 7577081 7577081 T A GRCh37 TP53 missense p.E286V lung adenocarcinoma,breast cancer,gastric adenocarcinoma,head and neck squamous cell carcinoma,skin melanoma,lung small cell carcinoma,hepatocellular carcinoma,skin squamous cell carcinoma,colorectal cancer,pancreas adenocarcinoma,ovarian serous cystadenocarcinoma,brain glioma,acute myeloid leukemia,esophageal carcinoma,urinary bladder urothelial carcinoma 26619011 ENST00000269305:c.857A>C 17 7577081 7577081 T G GRCh37 TP53 missense p.E286A lung adenocarcinoma,breast cancer,gastric adenocarcinoma,head and neck squamous cell carcinoma,skin melanoma,lung small cell carcinoma,hepatocellular carcinoma,skin squamous cell carcinoma,colorectal cancer,pancreas adenocarcinoma,ovarian serous cystadenocarcinoma,brain glioma,acute myeloid leukemia,esophageal carcinoma,urinary bladder urothelial carcinoma 26619011 ENST00000359597:c.856G>A 17 7577082 7577082 C T GRCh37 TP53 missense p.E286K lung adenocarcinoma,breast cancer,gastric adenocarcinoma,head and neck squamous cell carcinoma,skin melanoma,lung small cell carcinoma,hepatocellular carcinoma,skin squamous cell carcinoma,colorectal cancer,pancreas adenocarcinoma,ovarian serous cystadenocarcinoma,brain glioma,acute myeloid leukemia,esophageal carcinoma,urinary bladder urothelial carcinoma 26619011 ENST00000455263:c.856G>C 17 7577082 7577082 C G GRCh37 TP53 missense p.E286Q lung adenocarcinoma,breast cancer,gastric adenocarcinoma,head and neck squamous cell carcinoma,skin melanoma,lung small cell carcinoma,hepatocellular carcinoma,skin squamous cell carcinoma,colorectal cancer,pancreas adenocarcinoma,ovarian serous cystadenocarcinoma,brain glioma,acute myeloid leukemia,esophageal carcinoma,urinary bladder urothelial carcinoma 26619011 ENST00000455263:c.845G>A 17 7577093 7577093 C T GRCh37 TP53 missense p.R282Q colorectal cancer,head and neck squamous cell carcinoma,gastric adenocarcinoma,pancreas adenocarcinoma,esophageal carcinoma,ovarian serous cystadenocarcinoma,glioblastoma multiforme,brain glioma,lung squamous cell carcinoma,lung adenocarcinoma,skin melanoma,uterine corpus endometrial carcinoma,prostate adenocarcinoma,non-Hodgkin lymphoma,hepatocellular carcinoma,chromophobe adenocarcinoma,skin squamous cell carcinoma,breast cancer,urinary bladder urothelial carcinoma 26619011 ENST00000455263:c.845G>C 17 7577093 7577093 C G GRCh37 TP53 missense p.R282P colorectal cancer,head and neck squamous cell carcinoma,gastric adenocarcinoma,pancreas adenocarcinoma,esophageal carcinoma,ovarian serous cystadenocarcinoma,glioblastoma multiforme,brain glioma,lung squamous cell carcinoma,lung adenocarcinoma,skin melanoma,uterine corpus endometrial carcinoma,prostate adenocarcinoma,non-Hodgkin lymphoma,hepatocellular carcinoma,chromophobe adenocarcinoma,skin squamous cell carcinoma,breast cancer,urinary bladder urothelial carcinoma 26619011 ENST00000455263:c.844C>T 17 7577094 7577094 G A GRCh37 TP53 missense p.R282W colorectal cancer,head and neck squamous cell carcinoma,gastric adenocarcinoma,pancreas adenocarcinoma,esophageal carcinoma,ovarian serous cystadenocarcinoma,glioblastoma multiforme,brain glioma,lung squamous cell carcinoma,lung adenocarcinoma,skin melanoma,uterine corpus endometrial carcinoma,prostate adenocarcinoma,non-Hodgkin lymphoma,hepatocellular carcinoma,chromophobe adenocarcinoma,skin squamous cell carcinoma,breast cancer,urinary bladder urothelial carcinoma 26619011 ENST00000455263:c.844C>G 17 7577094 7577094 G C GRCh37 TP53 missense p.R282G colorectal cancer,head and neck squamous cell carcinoma,gastric adenocarcinoma,pancreas adenocarcinoma,esophageal carcinoma,ovarian serous cystadenocarcinoma,glioblastoma multiforme,brain glioma,lung squamous cell carcinoma,lung adenocarcinoma,skin melanoma,uterine corpus endometrial carcinoma,prostate adenocarcinoma,non-Hodgkin lymphoma,hepatocellular carcinoma,chromophobe adenocarcinoma,skin squamous cell carcinoma,breast cancer,urinary bladder urothelial carcinoma 26619011 ENST00000269305:c.843C>G 17 7577095 7577095 G C GRCh37 TP53 missense p.D281E lung adenocarcinoma,ovarian serous cystadenocarcinoma,glioblastoma multiforme,breast cancer,uterine carcinosarcoma,uterine corpus endometrial carcinoma,gastric adenocarcinoma,skin melanoma,pancreas adenocarcinoma,neuroblastoma,multiple myeloma,lung squamous cell carcinoma,hepatocellular carcinoma,renal clear cell carcinoma,head and neck squamous cell carcinoma,skin squamous cell carcinoma,chronic lymphocytic leukemia,urinary bladder urothelial carcinoma 26619011 ENST00000269305:c.842A>T 17 7577096 7577096 T A GRCh37 TP53 missense p.D281V lung adenocarcinoma,ovarian serous cystadenocarcinoma,glioblastoma multiforme,breast cancer,uterine carcinosarcoma,uterine corpus endometrial carcinoma,gastric adenocarcinoma,skin melanoma,pancreas adenocarcinoma,neuroblastoma,multiple myeloma,lung squamous cell carcinoma,hepatocellular carcinoma,renal clear cell carcinoma,head and neck squamous cell carcinoma,skin squamous cell carcinoma,chronic lymphocytic leukemia,urinary bladder urothelial carcinoma 26619011 ENST00000269305:c.842A>G 17 7577096 7577096 T C GRCh37 TP53 missense p.D281G lung adenocarcinoma,ovarian serous cystadenocarcinoma,glioblastoma multiforme,breast cancer,uterine carcinosarcoma,uterine corpus endometrial carcinoma,gastric adenocarcinoma,skin melanoma,pancreas adenocarcinoma,neuroblastoma,multiple myeloma,lung squamous cell carcinoma,hepatocellular carcinoma,renal clear cell carcinoma,head and neck squamous cell carcinoma,skin squamous cell carcinoma,chronic lymphocytic leukemia,urinary bladder urothelial carcinoma 26619011 ENST00000455263:c.842A>C 17 7577096 7577096 T G GRCh37 TP53 missense p.D281A lung adenocarcinoma,ovarian serous cystadenocarcinoma,glioblastoma multiforme,breast cancer,uterine carcinosarcoma,uterine corpus endometrial carcinoma,gastric adenocarcinoma,skin melanoma,pancreas adenocarcinoma,neuroblastoma,multiple myeloma,lung squamous cell carcinoma,hepatocellular carcinoma,renal clear cell carcinoma,head and neck squamous cell carcinoma,skin squamous cell carcinoma,chronic lymphocytic leukemia,urinary bladder urothelial carcinoma 26619011 ENST00000269305:c.841G>T 17 7577097 7577097 C A GRCh37 TP53 missense p.D281Y lung adenocarcinoma,ovarian serous cystadenocarcinoma,glioblastoma multiforme,breast cancer,uterine carcinosarcoma,uterine corpus endometrial carcinoma,gastric adenocarcinoma,skin melanoma,pancreas adenocarcinoma,neuroblastoma,multiple myeloma,lung squamous cell carcinoma,hepatocellular carcinoma,renal clear cell carcinoma,head and neck squamous cell carcinoma,skin squamous cell carcinoma,chronic lymphocytic leukemia,urinary bladder urothelial carcinoma 26619011 ENST00000269305:c.841G>A 17 7577097 7577097 C T GRCh37 TP53 missense p.D281N lung adenocarcinoma,ovarian serous cystadenocarcinoma,glioblastoma multiforme,breast cancer,uterine carcinosarcoma,uterine corpus endometrial carcinoma,gastric adenocarcinoma,skin melanoma,pancreas adenocarcinoma,neuroblastoma,multiple myeloma,lung squamous cell carcinoma,hepatocellular carcinoma,renal clear cell carcinoma,head and neck squamous cell carcinoma,skin squamous cell carcinoma,chronic lymphocytic leukemia,urinary bladder urothelial carcinoma 26619011 ENST00000269305:c.841G>C 17 7577097 7577097 C G GRCh37 TP53 missense p.D281H lung adenocarcinoma,ovarian serous cystadenocarcinoma,glioblastoma multiforme,breast cancer,uterine carcinosarcoma,uterine corpus endometrial carcinoma,gastric adenocarcinoma,skin melanoma,pancreas adenocarcinoma,neuroblastoma,multiple myeloma,lung squamous cell carcinoma,hepatocellular carcinoma,renal clear cell carcinoma,head and neck squamous cell carcinoma,skin squamous cell carcinoma,chronic lymphocytic leukemia,urinary bladder urothelial carcinoma 26619011 ENST00000455263:c.839G>A 17 7577099 7577099 C T GRCh37 TP53 missense p.R280K head and neck squamous cell carcinoma,urinary bladder urothelial carcinoma,lung adenocarcinoma,breast cancer,brain glioma,skin melanoma,ovarian serous cystadenocarcinoma,hepatocellular carcinoma,uterine carcinosarcoma,gastric adenocarcinoma,nasopharynx carcinoma,lung small cell carcinoma,lung squamous cell carcinoma,acute myeloid leukemia,esophageal carcinoma,skin squamous cell carcinoma,cervix carcinoma 26619011 ENST00000455263:c.839G>C 17 7577099 7577099 C G GRCh37 TP53 missense p.R280T head and neck squamous cell carcinoma,urinary bladder urothelial carcinoma,lung adenocarcinoma,breast cancer,brain glioma,skin melanoma,ovarian serous cystadenocarcinoma,hepatocellular carcinoma,uterine carcinosarcoma,gastric adenocarcinoma,nasopharynx carcinoma,lung small cell carcinoma,lung squamous cell carcinoma,acute myeloid leukemia,esophageal carcinoma,skin squamous cell carcinoma,cervix carcinoma 26619011 ENST00000455263:c.839G>T 17 7577099 7577099 C A GRCh37 TP53 missense p.R280I head and neck squamous cell carcinoma,urinary bladder urothelial carcinoma,lung adenocarcinoma,breast cancer,brain glioma,skin melanoma,ovarian serous cystadenocarcinoma,hepatocellular carcinoma,uterine carcinosarcoma,gastric adenocarcinoma,nasopharynx carcinoma,lung small cell carcinoma,lung squamous cell carcinoma,acute myeloid leukemia,esophageal carcinoma,skin squamous cell carcinoma,cervix carcinoma 26619011 ENST00000455263:c.838A>G 17 7577100 7577100 T C GRCh37 TP53 missense p.R280G head and neck squamous cell carcinoma,urinary bladder urothelial carcinoma,lung adenocarcinoma,breast cancer,brain glioma,skin melanoma,ovarian serous cystadenocarcinoma,hepatocellular carcinoma,uterine carcinosarcoma,gastric adenocarcinoma,nasopharynx carcinoma,lung small cell carcinoma,lung squamous cell carcinoma,acute myeloid leukemia,esophageal carcinoma,skin squamous cell carcinoma,cervix carcinoma 26619011 ENST00000269305:c.833C>T 17 7577105 7577105 G A GRCh37 TP53 missense p.P278L head and neck squamous cell carcinoma,ovarian serous cystadenocarcinoma,colorectal cancer,lung squamous cell carcinoma,breast cancer,skin melanoma,lung adenocarcinoma,esophageal carcinoma,skin squamous cell carcinoma,uterine corpus endometrial carcinoma,pancreas adenocarcinoma,multiple myeloma,brain glioma 26619011 ENST00000269305:c.833C>G 17 7577105 7577105 G C GRCh37 TP53 missense p.P278R head and neck squamous cell carcinoma,ovarian serous cystadenocarcinoma,colorectal cancer,lung squamous cell carcinoma,breast cancer,skin melanoma,lung adenocarcinoma,esophageal carcinoma,skin squamous cell carcinoma,uterine corpus endometrial carcinoma,pancreas adenocarcinoma,multiple myeloma,brain glioma 26619011 ENST00000269305:c.833C>A 17 7577105 7577105 G T GRCh37 TP53 missense p.P278H head and neck squamous cell carcinoma,ovarian serous cystadenocarcinoma,colorectal cancer,lung squamous cell carcinoma,breast cancer,skin melanoma,lung adenocarcinoma,esophageal carcinoma,skin squamous cell carcinoma,uterine corpus endometrial carcinoma,pancreas adenocarcinoma,multiple myeloma,brain glioma 26619011 ENST00000269305:c.832C>T 17 7577106 7577106 G A GRCh37 TP53 missense p.P278S head and neck squamous cell carcinoma,ovarian serous cystadenocarcinoma,colorectal cancer,lung squamous cell carcinoma,breast cancer,skin melanoma,lung adenocarcinoma,esophageal carcinoma,skin squamous cell carcinoma,uterine corpus endometrial carcinoma,pancreas adenocarcinoma,multiple myeloma,brain glioma 26619011 ENST00000269305:c.832C>A 17 7577106 7577106 G T GRCh37 TP53 missense p.P278T head and neck squamous cell carcinoma,ovarian serous cystadenocarcinoma,colorectal cancer,lung squamous cell carcinoma,breast cancer,skin melanoma,lung adenocarcinoma,esophageal carcinoma,skin squamous cell carcinoma,uterine corpus endometrial carcinoma,pancreas adenocarcinoma,multiple myeloma,brain glioma 26619011 ENST00000269305:c.832C>G 17 7577106 7577106 G C GRCh37 TP53 missense p.P278A head and neck squamous cell carcinoma,ovarian serous cystadenocarcinoma,colorectal cancer,lung squamous cell carcinoma,breast cancer,skin melanoma,lung adenocarcinoma,esophageal carcinoma,skin squamous cell carcinoma,uterine corpus endometrial carcinoma,pancreas adenocarcinoma,multiple myeloma,brain glioma 26619011 ENST00000455263:c.824G>A 17 7577114 7577114 C T GRCh37 TP53 missense p.C275Y ovarian serous cystadenocarcinoma,lung adenocarcinoma,head and neck squamous cell carcinoma,esophageal carcinoma,colorectal cancer,skin melanoma,hepatocellular carcinoma,brain glioma,glioblastoma multiforme,pancreas adenocarcinoma,multiple myeloma,chromophobe adenocarcinoma,chronic lymphocytic leukemia,breast cancer,urinary bladder urothelial carcinoma,adrenocortical carcinoma 26619011 ENST00000455263:c.824G>T 17 7577114 7577114 C A GRCh37 TP53 missense p.C275F ovarian serous cystadenocarcinoma,lung adenocarcinoma,head and neck squamous cell carcinoma,esophageal carcinoma,colorectal cancer,skin melanoma,hepatocellular carcinoma,brain glioma,glioblastoma multiforme,pancreas adenocarcinoma,multiple myeloma,chromophobe adenocarcinoma,chronic lymphocytic leukemia,breast cancer,urinary bladder urothelial carcinoma,adrenocortical carcinoma 26619011 ENST00000269305:c.824G>C 17 7577114 7577114 C G GRCh37 TP53 missense p.C275S ovarian serous cystadenocarcinoma,lung adenocarcinoma,head and neck squamous cell carcinoma,esophageal carcinoma,colorectal cancer,skin melanoma,hepatocellular carcinoma,brain glioma,glioblastoma multiforme,pancreas adenocarcinoma,multiple myeloma,chromophobe adenocarcinoma,chronic lymphocytic leukemia,breast cancer,urinary bladder urothelial carcinoma,adrenocortical carcinoma 26619011 ENST00000455263:c.823T>C 17 7577115 7577115 A G GRCh37 TP53 missense p.C275R ovarian serous cystadenocarcinoma,lung adenocarcinoma,head and neck squamous cell carcinoma,esophageal carcinoma,colorectal cancer,skin melanoma,hepatocellular carcinoma,brain glioma,glioblastoma multiforme,pancreas adenocarcinoma,multiple myeloma,chromophobe adenocarcinoma,chronic lymphocytic leukemia,breast cancer,urinary bladder urothelial carcinoma,adrenocortical carcinoma 26619011 ENST00000455263:c.821T>A 17 7577117 7577117 A T GRCh37 TP53 missense p.V274D lung adenocarcinoma,hepatocellular carcinoma,breast cancer,pancreas adenocarcinoma,ovarian serous cystadenocarcinoma,colorectal cancer,gastric adenocarcinoma,skin melanoma,prostate adenocarcinoma,lung small cell carcinoma,brain glioma 26619011 ENST00000455263:c.821T>G 17 7577117 7577117 A C GRCh37 TP53 missense p.V274G lung adenocarcinoma,hepatocellular carcinoma,breast cancer,pancreas adenocarcinoma,ovarian serous cystadenocarcinoma,colorectal cancer,gastric adenocarcinoma,skin melanoma,prostate adenocarcinoma,lung small cell carcinoma,brain glioma 26619011 ENST00000455263:c.821T>C 17 7577117 7577117 A G GRCh37 TP53 missense p.V274A lung adenocarcinoma,hepatocellular carcinoma,breast cancer,pancreas adenocarcinoma,ovarian serous cystadenocarcinoma,colorectal cancer,gastric adenocarcinoma,skin melanoma,prostate adenocarcinoma,lung small cell carcinoma,brain glioma 26619011 ENST00000455263:c.820G>T 17 7577118 7577118 C A GRCh37 TP53 missense p.V274F lung adenocarcinoma,hepatocellular carcinoma,breast cancer,pancreas adenocarcinoma,ovarian serous cystadenocarcinoma,colorectal cancer,gastric adenocarcinoma,skin melanoma,prostate adenocarcinoma,lung small cell carcinoma,brain glioma 26619011 ENST00000455263:c.820G>C 17 7577118 7577118 C G GRCh37 TP53 missense p.V274L lung adenocarcinoma,hepatocellular carcinoma,breast cancer,pancreas adenocarcinoma,ovarian serous cystadenocarcinoma,colorectal cancer,gastric adenocarcinoma,skin melanoma,prostate adenocarcinoma,lung small cell carcinoma,brain glioma 26619011 ENST00000269305:c.818G>A 17 7577120 7577120 C T GRCh37 TP53 missense p.R273H acute myeloid leukemia,cancer,breast cancer,brain glioma,colorectal cancer,ovarian serous cystadenocarcinoma,gastric adenocarcinoma,head and neck squamous cell carcinoma,lung adenocarcinoma,esophageal carcinoma,pancreas adenocarcinoma,uterine corpus endometrial carcinoma,glioblastoma multiforme,lung squamous cell carcinoma,uterine carcinosarcoma,prostate adenocarcinoma,brain stem glioma,lung small cell carcinoma,hepatocellular carcinoma,chronic lymphocytic leukemia,urinary bladder urothelial carcinoma,skin melanoma,multiple myeloma,medulloblastoma,adrenocortical carcinoma 24381225,24487413,24641375,25157968,16489069,26619011,9569050 ENST00000455263:c.818G>T 17 7577120 7577120 C A GRCh37 TP53 missense p.R273L brain glioma,colorectal cancer,ovarian serous cystadenocarcinoma,breast cancer,gastric adenocarcinoma,head and neck squamous cell carcinoma,lung adenocarcinoma,esophageal carcinoma,pancreas adenocarcinoma,uterine corpus endometrial carcinoma,glioblastoma multiforme,lung squamous cell carcinoma,uterine carcinosarcoma,prostate adenocarcinoma,brain stem glioma,lung small cell carcinoma,hepatocellular carcinoma,chronic lymphocytic leukemia,urinary bladder urothelial carcinoma,skin melanoma,multiple myeloma,medulloblastoma,acute myeloid leukemia,adrenocortical carcinoma 26619011 ENST00000269305:c.818G>C 17 7577120 7577120 C G GRCh37 TP53 missense p.R273P brain glioma,colorectal cancer,ovarian serous cystadenocarcinoma,breast cancer,gastric adenocarcinoma,head and neck squamous cell carcinoma,lung adenocarcinoma,esophageal carcinoma,pancreas adenocarcinoma,uterine corpus endometrial carcinoma,glioblastoma multiforme,lung squamous cell carcinoma,uterine carcinosarcoma,prostate adenocarcinoma,brain stem glioma,lung small cell carcinoma,hepatocellular carcinoma,chronic lymphocytic leukemia,urinary bladder urothelial carcinoma,skin melanoma,multiple myeloma,medulloblastoma,acute myeloid leukemia,adrenocortical carcinoma 26619011 ENST00000269305:c.817C>T 17 7577121 7577121 G A GRCh37 TP53 missense p.R273C acute myeloid leukemia,hepatocellular carcinoma,cancer,breast cancer 24381225,24487413,24641375,15004724,25157968,16489069,9569050 ENST00000455263:c.817C>T 17 7577121 7577121 G A GRCh37 TP53 missense p.R273C brain glioma,colorectal cancer,ovarian serous cystadenocarcinoma,breast cancer,gastric adenocarcinoma,head and neck squamous cell carcinoma,lung adenocarcinoma,esophageal carcinoma,pancreas adenocarcinoma,uterine corpus endometrial carcinoma,glioblastoma multiforme,lung squamous cell carcinoma,uterine carcinosarcoma,prostate adenocarcinoma,brain stem glioma,lung small cell carcinoma,hepatocellular carcinoma,chronic lymphocytic leukemia,urinary bladder urothelial carcinoma,skin melanoma,multiple myeloma,medulloblastoma,acute myeloid leukemia,adrenocortical carcinoma 26619011 ENST00000455263:c.817C>A 17 7577121 7577121 G T GRCh37 TP53 missense p.R273S brain glioma,colorectal cancer,ovarian serous cystadenocarcinoma,breast cancer,gastric adenocarcinoma,head and neck squamous cell carcinoma,lung adenocarcinoma,esophageal carcinoma,pancreas adenocarcinoma,uterine corpus endometrial carcinoma,glioblastoma multiforme,lung squamous cell carcinoma,uterine carcinosarcoma,prostate adenocarcinoma,brain stem glioma,lung small cell carcinoma,hepatocellular carcinoma,chronic lymphocytic leukemia,urinary bladder urothelial carcinoma,skin melanoma,multiple myeloma,medulloblastoma,acute myeloid leukemia,adrenocortical carcinoma 26619011 ENST00000269305:c.815T>G 17 7577123 7577123 A C GRCh37 TP53 missense p.V272G ovarian serous cystadenocarcinoma,pancreas adenocarcinoma,lung adenocarcinoma,head and neck squamous cell carcinoma,gastric adenocarcinoma,colorectal cancer,breast cancer,uterine corpus endometrial carcinoma,multiple myeloma,medulloblastoma,renal clear cell carcinoma,skin squamous cell carcinoma,urinary bladder urothelial carcinoma 26619011 ENST00000455263:c.815T>A 17 7577123 7577123 A T GRCh37 TP53 missense p.V272E ovarian serous cystadenocarcinoma,pancreas adenocarcinoma,lung adenocarcinoma,head and neck squamous cell carcinoma,gastric adenocarcinoma,colorectal cancer,breast cancer,uterine corpus endometrial carcinoma,multiple myeloma,medulloblastoma,renal clear cell carcinoma,skin squamous cell carcinoma,urinary bladder urothelial carcinoma 26619011 ENST00000455263:c.814G>A 17 7577124 7577124 C T GRCh37 TP53 missense p.V272M ovarian serous cystadenocarcinoma,pancreas adenocarcinoma,lung adenocarcinoma,head and neck squamous cell carcinoma,gastric adenocarcinoma,colorectal cancer,breast cancer,uterine corpus endometrial carcinoma,multiple myeloma,medulloblastoma,renal clear cell carcinoma,skin squamous cell carcinoma,urinary bladder urothelial carcinoma 26619011 ENST00000269305:c.814G>T 17 7577124 7577124 C A GRCh37 TP53 missense p.V272L ovarian serous cystadenocarcinoma,pancreas adenocarcinoma,lung adenocarcinoma,head and neck squamous cell carcinoma,gastric adenocarcinoma,colorectal cancer,breast cancer,uterine corpus endometrial carcinoma,multiple myeloma,medulloblastoma,renal clear cell carcinoma,skin squamous cell carcinoma,urinary bladder urothelial carcinoma 26619011 ENST00000269305:c.810T>G 17 7577128 7577128 A C GRCh37 TP53 missense p.F270L gastric adenocarcinoma,breast cancer,ovarian serous cystadenocarcinoma,lung adenocarcinoma,brain glioma,lung squamous cell carcinoma,head and neck squamous cell carcinoma,esophageal carcinoma,skin squamous cell carcinoma 26619011 ENST00000455263:c.809T>C 17 7577129 7577129 A G GRCh37 TP53 missense p.F270S gastric adenocarcinoma,breast cancer,ovarian serous cystadenocarcinoma,lung adenocarcinoma,brain glioma,lung squamous cell carcinoma,head and neck squamous cell carcinoma,esophageal carcinoma,skin squamous cell carcinoma 26619011 ENST00000455263:c.809T>G 17 7577129 7577129 A C GRCh37 TP53 missense p.F270C gastric adenocarcinoma,breast cancer,ovarian serous cystadenocarcinoma,lung adenocarcinoma,brain glioma,lung squamous cell carcinoma,head and neck squamous cell carcinoma,esophageal carcinoma,skin squamous cell carcinoma 26619011 ENST00000455263:c.808T>A 17 7577130 7577130 A T GRCh37 TP53 missense p.F270I gastric adenocarcinoma,breast cancer,ovarian serous cystadenocarcinoma,lung adenocarcinoma,brain glioma,lung squamous cell carcinoma,head and neck squamous cell carcinoma,esophageal carcinoma,skin squamous cell carcinoma 26619011 ENST00000455263:c.808T>G 17 7577130 7577130 A C GRCh37 TP53 missense p.F270V gastric adenocarcinoma,breast cancer,ovarian serous cystadenocarcinoma,lung adenocarcinoma,brain glioma,lung squamous cell carcinoma,head and neck squamous cell carcinoma,esophageal carcinoma,skin squamous cell carcinoma 26619011 ENST00000269305:c.797G>T 17 7577141 7577141 C A GRCh37 TP53 missense p.G266V head and neck squamous cell carcinoma,ovarian serous cystadenocarcinoma,pancreas adenocarcinoma,colorectal cancer,lung adenocarcinoma,brain glioma,breast cancer,skin melanoma,hepatocellular carcinoma,glioblastoma multiforme,esophageal carcinoma,skin squamous cell carcinoma,chronic lymphocytic leukemia,uterine carcinosarcoma,uterine corpus endometrial carcinoma,lung small cell carcinoma,lung squamous cell carcinoma,urinary bladder urothelial carcinoma 26619011 ENST00000269305:c.797G>A 17 7577141 7577141 C T GRCh37 TP53 missense p.G266E head and neck squamous cell carcinoma,ovarian serous cystadenocarcinoma,pancreas adenocarcinoma,colorectal cancer,lung adenocarcinoma,brain glioma,breast cancer,skin melanoma,hepatocellular carcinoma,glioblastoma multiforme,esophageal carcinoma,skin squamous cell carcinoma,chronic lymphocytic leukemia,uterine carcinosarcoma,uterine corpus endometrial carcinoma,lung small cell carcinoma,lung squamous cell carcinoma,urinary bladder urothelial carcinoma 26619011 ENST00000269305:c.796G>C 17 7577142 7577142 C G GRCh37 TP53 missense p.G266R head and neck squamous cell carcinoma,ovarian serous cystadenocarcinoma,pancreas adenocarcinoma,colorectal cancer,lung adenocarcinoma,brain glioma,breast cancer,skin melanoma,hepatocellular carcinoma,glioblastoma multiforme,esophageal carcinoma,skin squamous cell carcinoma,chronic lymphocytic leukemia,uterine carcinosarcoma,uterine corpus endometrial carcinoma,lung small cell carcinoma,lung squamous cell carcinoma,urinary bladder urothelial carcinoma 26619011 ENST00000269305:c.764T>G 17 7577517 7577517 A C GRCh37 TP53 missense p.I255S esophageal carcinoma,breast cancer,pancreas adenocarcinoma,lung adenocarcinoma,brain glioma,glioblastoma multiforme,chronic lymphocytic leukemia 26619011 ENST00000359597:c.764T>A 17 7577517 7577517 A T GRCh37 TP53 missense p.I255N esophageal carcinoma,breast cancer,pancreas adenocarcinoma,lung adenocarcinoma,brain glioma,glioblastoma multiforme,chronic lymphocytic leukemia 26619011 ENST00000269305:c.764T>C 17 7577517 7577517 A G GRCh37 TP53 missense p.I255T esophageal carcinoma,breast cancer,pancreas adenocarcinoma,lung adenocarcinoma,brain glioma,glioblastoma multiforme,chronic lymphocytic leukemia 26619011 ENST00000359597:c.763A>T 17 7577518 7577518 T A GRCh37 TP53 missense p.I255F esophageal carcinoma,breast cancer,pancreas adenocarcinoma,lung adenocarcinoma,brain glioma,glioblastoma multiforme,chronic lymphocytic leukemia 26619011 ENST00000269305:c.746G>C 17 7577535 7577535 C G GRCh37 TP53 missense p.R249T acute myeloid leukemia,breast cancer 24381225,24487413,24641375,9569050 ENST00000269305:c.746G>T 17 7577535 7577535 C A GRCh37 TP53 missense p.R249M lung adenocarcinoma,hepatocellular carcinoma,lung small cell carcinoma,head and neck squamous cell carcinoma,prostate adenocarcinoma,lung squamous cell carcinoma,uterine corpus endometrial carcinoma,pancreas adenocarcinoma,glioblastoma multiforme,uterine carcinosarcoma,gastric adenocarcinoma,ovarian serous cystadenocarcinoma,medulloblastoma,esophageal carcinoma,skin squamous cell carcinoma 26619011 ENST00000413465:c.746G>C 17 7577535 7577535 C G GRCh37 TP53 missense p.R249T lung adenocarcinoma,hepatocellular carcinoma,lung small cell carcinoma,head and neck squamous cell carcinoma,prostate adenocarcinoma,lung squamous cell carcinoma,uterine corpus endometrial carcinoma,pancreas adenocarcinoma,glioblastoma multiforme,uterine carcinosarcoma,gastric adenocarcinoma,ovarian serous cystadenocarcinoma,medulloblastoma,esophageal carcinoma,skin squamous cell carcinoma 26619011 ENST00000269305:c.746G>A 17 7577535 7577535 C T GRCh37 TP53 missense p.R249K lung adenocarcinoma,hepatocellular carcinoma,lung small cell carcinoma,head and neck squamous cell carcinoma,prostate adenocarcinoma,lung squamous cell carcinoma,uterine corpus endometrial carcinoma,pancreas adenocarcinoma,glioblastoma multiforme,uterine carcinosarcoma,gastric adenocarcinoma,ovarian serous cystadenocarcinoma,medulloblastoma,esophageal carcinoma,skin squamous cell carcinoma 26619011 ENST00000269305:c.745A>T 17 7577536 7577536 T A GRCh37 TP53 missense p.R249W acute myeloid leukemia 24381225,24487413,24641375 ENST00000413465:c.745A>G 17 7577536 7577536 T C GRCh37 TP53 missense p.R249G lung adenocarcinoma,hepatocellular carcinoma,lung small cell carcinoma,head and neck squamous cell carcinoma,prostate adenocarcinoma,lung squamous cell carcinoma,uterine corpus endometrial carcinoma,pancreas adenocarcinoma,glioblastoma multiforme,uterine carcinosarcoma,gastric adenocarcinoma,ovarian serous cystadenocarcinoma,medulloblastoma,esophageal carcinoma,skin squamous cell carcinoma 26619011 ENST00000413465:c.745A>T 17 7577536 7577536 T A GRCh37 TP53 missense p.R249W lung adenocarcinoma,hepatocellular carcinoma,lung small cell carcinoma,head and neck squamous cell carcinoma,prostate adenocarcinoma,lung squamous cell carcinoma,uterine corpus endometrial carcinoma,pancreas adenocarcinoma,glioblastoma multiforme,uterine carcinosarcoma,gastric adenocarcinoma,ovarian serous cystadenocarcinoma,medulloblastoma,esophageal carcinoma,skin squamous cell carcinoma 26619011 ENST00000269305:c.743G>A 17 7577538 7577538 C T GRCh37 TP53 missense p.R248Q acute myeloid leukemia,cancer,hepatocellular carcinoma,breast cancer,colorectal cancer,head and neck squamous cell carcinoma,ovarian serous cystadenocarcinoma,glioblastoma multiforme,esophageal carcinoma,gastric adenocarcinoma,pancreas adenocarcinoma,urinary bladder urothelial carcinoma,lung adenocarcinoma,brain glioma,uterine corpus endometrial carcinoma,uterine carcinosarcoma,skin squamous cell carcinoma,skin melanoma,prostate adenocarcinoma,brain stem glioma,lung squamous cell carcinoma,multiple myeloma,myelodysplastic syndrome,medulloblastoma,lung small cell carcinoma,chronic lymphocytic leukemia 24381225,24487413,24641375,24651012,15004724,25157968,9569050,16489069,26619011 ENST00000269305:c.743G>T 17 7577538 7577538 C A GRCh37 TP53 missense p.R248L colorectal cancer,head and neck squamous cell carcinoma,ovarian serous cystadenocarcinoma,glioblastoma multiforme,esophageal carcinoma,gastric adenocarcinoma,pancreas adenocarcinoma,urinary bladder urothelial carcinoma,lung adenocarcinoma,brain glioma,uterine corpus endometrial carcinoma,breast cancer,uterine carcinosarcoma,skin squamous cell carcinoma,skin melanoma,prostate adenocarcinoma,hepatocellular carcinoma,brain stem glioma,lung squamous cell carcinoma,multiple myeloma,myelodysplastic syndrome,medulloblastoma,lung small cell carcinoma,acute myeloid leukemia,chronic lymphocytic leukemia 26619011 ENST00000269305:c.743G>C 17 7577538 7577538 C G GRCh37 TP53 missense p.R248P colorectal cancer,head and neck squamous cell carcinoma,ovarian serous cystadenocarcinoma,glioblastoma multiforme,esophageal carcinoma,gastric adenocarcinoma,pancreas adenocarcinoma,urinary bladder urothelial carcinoma,lung adenocarcinoma,brain glioma,uterine corpus endometrial carcinoma,breast cancer,uterine carcinosarcoma,skin squamous cell carcinoma,skin melanoma,prostate adenocarcinoma,hepatocellular carcinoma,brain stem glioma,lung squamous cell carcinoma,multiple myeloma,myelodysplastic syndrome,medulloblastoma,lung small cell carcinoma,acute myeloid leukemia,chronic lymphocytic leukemia 26619011 ENST00000269305:c.742C>T 17 7577539 7577539 G A GRCh37 TP53 missense p.R248W acute myeloid leukemia,cancer,breast cancer,colorectal cancer,head and neck squamous cell carcinoma,ovarian serous cystadenocarcinoma,glioblastoma multiforme,esophageal carcinoma,gastric adenocarcinoma,pancreas adenocarcinoma,urinary bladder urothelial carcinoma,lung adenocarcinoma,brain glioma,uterine corpus endometrial carcinoma,uterine carcinosarcoma,skin squamous cell carcinoma,skin melanoma,prostate adenocarcinoma,hepatocellular carcinoma,brain stem glioma,lung squamous cell carcinoma,multiple myeloma,myelodysplastic syndrome,medulloblastoma,lung small cell carcinoma,chronic lymphocytic leukemia 20013323,25157968,16489069,26619011 ENST00000269305:c.742C>G 17 7577539 7577539 G C GRCh37 TP53 missense p.R248G colorectal cancer,head and neck squamous cell carcinoma,ovarian serous cystadenocarcinoma,glioblastoma multiforme,esophageal carcinoma,gastric adenocarcinoma,pancreas adenocarcinoma,urinary bladder urothelial carcinoma,lung adenocarcinoma,brain glioma,uterine corpus endometrial carcinoma,breast cancer,uterine carcinosarcoma,skin squamous cell carcinoma,skin melanoma,prostate adenocarcinoma,hepatocellular carcinoma,brain stem glioma,lung squamous cell carcinoma,multiple myeloma,myelodysplastic syndrome,medulloblastoma,lung small cell carcinoma,acute myeloid leukemia,chronic lymphocytic leukemia 26619011 ENST00000269305:c.734G>A 17 7577547 7577547 C T GRCh37 TP53 missense p.G245D head and neck squamous cell carcinoma,ovarian serous cystadenocarcinoma,colorectal cancer,lung adenocarcinoma,pancreas adenocarcinoma,gastric adenocarcinoma,esophageal carcinoma,prostate adenocarcinoma,breast cancer,lung squamous cell carcinoma,brain glioma,glioblastoma multiforme,hepatocellular carcinoma,urinary bladder urothelial carcinoma,uterine carcinosarcoma,brain stem glioma 26619011 ENST00000269305:c.734G>T 17 7577547 7577547 C A GRCh37 TP53 missense p.G245V head and neck squamous cell carcinoma,ovarian serous cystadenocarcinoma,colorectal cancer,lung adenocarcinoma,pancreas adenocarcinoma,gastric adenocarcinoma,esophageal carcinoma,prostate adenocarcinoma,breast cancer,lung squamous cell carcinoma,brain glioma,glioblastoma multiforme,hepatocellular carcinoma,urinary bladder urothelial carcinoma,uterine carcinosarcoma,brain stem glioma 26619011 ENST00000269305:c.734G>C 17 7577547 7577547 C G GRCh37 TP53 missense p.G245A head and neck squamous cell carcinoma,ovarian serous cystadenocarcinoma,colorectal cancer,lung adenocarcinoma,pancreas adenocarcinoma,gastric adenocarcinoma,esophageal carcinoma,prostate adenocarcinoma,breast cancer,lung squamous cell carcinoma,brain glioma,glioblastoma multiforme,hepatocellular carcinoma,urinary bladder urothelial carcinoma,uterine carcinosarcoma,brain stem glioma 26619011 ENST00000269305:c.733G>A 17 7577548 7577548 C T GRCh37 TP53 missense p.G245S cancer,head and neck squamous cell carcinoma,ovarian serous cystadenocarcinoma,colorectal cancer,lung adenocarcinoma,pancreas adenocarcinoma,gastric adenocarcinoma,esophageal carcinoma,prostate adenocarcinoma,breast cancer,lung squamous cell carcinoma,brain glioma,glioblastoma multiforme,hepatocellular carcinoma,urinary bladder urothelial carcinoma,uterine carcinosarcoma,brain stem glioma 17015838,25157968,26619011 ENST00000269305:c.733G>T 17 7577548 7577548 C A GRCh37 TP53 missense p.G245C head and neck squamous cell carcinoma,ovarian serous cystadenocarcinoma,colorectal cancer,lung adenocarcinoma,pancreas adenocarcinoma,gastric adenocarcinoma,esophageal carcinoma,prostate adenocarcinoma,breast cancer,lung squamous cell carcinoma,brain glioma,glioblastoma multiforme,hepatocellular carcinoma,urinary bladder urothelial carcinoma,uterine carcinosarcoma,brain stem glioma 26619011 ENST00000269305:c.733G>C 17 7577548 7577548 C G GRCh37 TP53 missense p.G245R head and neck squamous cell carcinoma,ovarian serous cystadenocarcinoma,colorectal cancer,lung adenocarcinoma,pancreas adenocarcinoma,gastric adenocarcinoma,esophageal carcinoma,prostate adenocarcinoma,breast cancer,lung squamous cell carcinoma,brain glioma,glioblastoma multiforme,hepatocellular carcinoma,urinary bladder urothelial carcinoma,uterine carcinosarcoma,brain stem glioma 26619011 ENST00000269305:c.731G>A 17 7577550 7577550 C T GRCh37 TP53 missense p.G244D ovarian serous cystadenocarcinoma,esophageal carcinoma,colorectal cancer,uterine corpus endometrial carcinoma,gastric adenocarcinoma,lung squamous cell carcinoma,lung adenocarcinoma,glioblastoma multiforme,uterine carcinosarcoma,lung small cell carcinoma,hepatocellular carcinoma,brain glioma,head and neck squamous cell carcinoma 26619011 ENST00000269305:c.731G>T 17 7577550 7577550 C A GRCh37 TP53 missense p.G244V ovarian serous cystadenocarcinoma,esophageal carcinoma,colorectal cancer,uterine corpus endometrial carcinoma,gastric adenocarcinoma,lung squamous cell carcinoma,lung adenocarcinoma,glioblastoma multiforme,uterine carcinosarcoma,lung small cell carcinoma,hepatocellular carcinoma,brain glioma,head and neck squamous cell carcinoma 26619011 ENST00000269305:c.730G>T 17 7577551 7577551 C A GRCh37 TP53 missense p.G244C ovarian serous cystadenocarcinoma,esophageal carcinoma,colorectal cancer,uterine corpus endometrial carcinoma,gastric adenocarcinoma,lung squamous cell carcinoma,lung adenocarcinoma,glioblastoma multiforme,uterine carcinosarcoma,lung small cell carcinoma,hepatocellular carcinoma,brain glioma,head and neck squamous cell carcinoma 26619011 ENST00000269305:c.730G>A 17 7577551 7577551 C T GRCh37 TP53 missense p.G244S ovarian serous cystadenocarcinoma,esophageal carcinoma,colorectal cancer,uterine corpus endometrial carcinoma,gastric adenocarcinoma,lung squamous cell carcinoma,lung adenocarcinoma,glioblastoma multiforme,uterine carcinosarcoma,lung small cell carcinoma,hepatocellular carcinoma,brain glioma,head and neck squamous cell carcinoma 26619011 ENST00000269305:c.730G>C 17 7577551 7577551 C G GRCh37 TP53 missense p.G244R ovarian serous cystadenocarcinoma,esophageal carcinoma,colorectal cancer,uterine corpus endometrial carcinoma,gastric adenocarcinoma,lung squamous cell carcinoma,lung adenocarcinoma,glioblastoma multiforme,uterine carcinosarcoma,lung small cell carcinoma,hepatocellular carcinoma,brain glioma,head and neck squamous cell carcinoma 26619011 ENST00000269305:c.726C>G 17 7577555 7577555 G C GRCh37 TP53 missense p.C242W head and neck squamous cell carcinoma,lung adenocarcinoma,lung squamous cell carcinoma,hepatocellular carcinoma,gastric adenocarcinoma,chronic lymphocytic leukemia,uterine carcinosarcoma,glioblastoma multiforme,esophageal carcinoma,breast cancer,urinary bladder urothelial carcinoma 26619011 ENST00000269305:c.725G>T 17 7577556 7577556 C A GRCh37 TP53 missense p.C242F head and neck squamous cell carcinoma,lung adenocarcinoma,lung squamous cell carcinoma,hepatocellular carcinoma,gastric adenocarcinoma,chronic lymphocytic leukemia,uterine carcinosarcoma,glioblastoma multiforme,esophageal carcinoma,breast cancer,urinary bladder urothelial carcinoma 26619011 ENST00000269305:c.725G>A 17 7577556 7577556 C T GRCh37 TP53 missense p.C242Y head and neck squamous cell carcinoma,lung adenocarcinoma,lung squamous cell carcinoma,hepatocellular carcinoma,gastric adenocarcinoma,chronic lymphocytic leukemia,uterine carcinosarcoma,glioblastoma multiforme,esophageal carcinoma,breast cancer,urinary bladder urothelial carcinoma 26619011 ENST00000269305:c.724T>A 17 7577557 7577557 A T GRCh37 TP53 missense p.C242S head and neck squamous cell carcinoma,lung adenocarcinoma,lung squamous cell carcinoma,hepatocellular carcinoma,gastric adenocarcinoma,chronic lymphocytic leukemia,uterine carcinosarcoma,glioblastoma multiforme,esophageal carcinoma,breast cancer,urinary bladder urothelial carcinoma 26619011 ENST00000269305:c.724T>G 17 7577557 7577557 A C GRCh37 TP53 missense p.C242G head and neck squamous cell carcinoma,lung adenocarcinoma,lung squamous cell carcinoma,hepatocellular carcinoma,gastric adenocarcinoma,chronic lymphocytic leukemia,uterine carcinosarcoma,glioblastoma multiforme,esophageal carcinoma,breast cancer,urinary bladder urothelial carcinoma 26619011 ENST00000269305:c.722C>T 17 7577559 7577559 G A GRCh37 TP53 missense p.S241F ovarian serous cystadenocarcinoma,skin melanoma,uterine carcinosarcoma,uterine corpus endometrial carcinoma,lung adenocarcinoma,brain stem glioma,glioblastoma multiforme,gallbladder carcinoma,breast cancer,urinary bladder urothelial carcinoma,pancreas adenocarcinoma,non-Hodgkin lymphoma,brain glioma,papillary renal cell carcinoma,renal clear cell carcinoma,chromophobe adenocarcinoma,head and neck squamous cell carcinoma,esophageal carcinoma,skin squamous cell carcinoma,colorectal cancer 26619011 ENST00000269305:c.722C>A 17 7577559 7577559 G T GRCh37 TP53 missense p.S241Y ovarian serous cystadenocarcinoma,skin melanoma,uterine carcinosarcoma,uterine corpus endometrial carcinoma,lung adenocarcinoma,brain stem glioma,glioblastoma multiforme,gallbladder carcinoma,breast cancer,urinary bladder urothelial carcinoma,pancreas adenocarcinoma,non-Hodgkin lymphoma,brain glioma,papillary renal cell carcinoma,renal clear cell carcinoma,chromophobe adenocarcinoma,head and neck squamous cell carcinoma,esophageal carcinoma,skin squamous cell carcinoma,colorectal cancer 26619011 ENST00000269305:c.722C>G 17 7577559 7577559 G C GRCh37 TP53 missense p.S241C ovarian serous cystadenocarcinoma,skin melanoma,uterine carcinosarcoma,uterine corpus endometrial carcinoma,lung adenocarcinoma,brain stem glioma,glioblastoma multiforme,gallbladder carcinoma,breast cancer,urinary bladder urothelial carcinoma,pancreas adenocarcinoma,non-Hodgkin lymphoma,brain glioma,papillary renal cell carcinoma,renal clear cell carcinoma,chromophobe adenocarcinoma,head and neck squamous cell carcinoma,esophageal carcinoma,skin squamous cell carcinoma,colorectal cancer 26619011 ENST00000269305:c.721T>C 17 7577560 7577560 A G GRCh37 TP53 missense p.S241P ovarian serous cystadenocarcinoma,skin melanoma,uterine carcinosarcoma,uterine corpus endometrial carcinoma,lung adenocarcinoma,brain stem glioma,glioblastoma multiforme,gallbladder carcinoma,breast cancer,urinary bladder urothelial carcinoma,pancreas adenocarcinoma,non-Hodgkin lymphoma,brain glioma,papillary renal cell carcinoma,renal clear cell carcinoma,chromophobe adenocarcinoma,head and neck squamous cell carcinoma,esophageal carcinoma,skin squamous cell carcinoma,colorectal cancer 26619011 ENST00000413465:c.721T>G 17 7577560 7577560 A C GRCh37 TP53 missense p.S241A ovarian serous cystadenocarcinoma,skin melanoma,uterine carcinosarcoma,uterine corpus endometrial carcinoma,lung adenocarcinoma,brain stem glioma,glioblastoma multiforme,gallbladder carcinoma,breast cancer,urinary bladder urothelial carcinoma,pancreas adenocarcinoma,non-Hodgkin lymphoma,brain glioma,papillary renal cell carcinoma,renal clear cell carcinoma,chromophobe adenocarcinoma,head and neck squamous cell carcinoma,esophageal carcinoma,skin squamous cell carcinoma,colorectal cancer 26619011 ENST00000269305:c.716A>G 17 7577565 7577565 T C GRCh37 TP53 missense p.N239S uterine corpus endometrial carcinoma,lung adenocarcinoma,head and neck squamous cell carcinoma,uterine carcinosarcoma,gastric adenocarcinoma,prostate adenocarcinoma,ovarian serous cystadenocarcinoma,hepatocellular carcinoma,renal clear cell carcinoma,chromophobe adenocarcinoma,colorectal cancer,breast cancer 26619011 ENST00000269305:c.716A>C 17 7577565 7577565 T G GRCh37 TP53 missense p.N239T uterine corpus endometrial carcinoma,lung adenocarcinoma,head and neck squamous cell carcinoma,uterine carcinosarcoma,gastric adenocarcinoma,prostate adenocarcinoma,ovarian serous cystadenocarcinoma,hepatocellular carcinoma,renal clear cell carcinoma,chromophobe adenocarcinoma,colorectal cancer,breast cancer 26619011 ENST00000269305:c.715A>G 17 7577566 7577566 T C GRCh37 TP53 missense p.N239D uterine corpus endometrial carcinoma,lung adenocarcinoma,head and neck squamous cell carcinoma,uterine carcinosarcoma,gastric adenocarcinoma,prostate adenocarcinoma,ovarian serous cystadenocarcinoma,hepatocellular carcinoma,renal clear cell carcinoma,chromophobe adenocarcinoma,colorectal cancer,breast cancer 26619011 ENST00000269305:c.713G>A 17 7577568 7577568 C T GRCh37 TP53 missense p.C238Y ovarian serous cystadenocarcinoma,glioblastoma multiforme,breast cancer,head and neck squamous cell carcinoma,colorectal cancer,uterine carcinosarcoma,uterine corpus endometrial carcinoma,pancreas adenocarcinoma,esophageal carcinoma,gastric adenocarcinoma,multiple myeloma,lung adenocarcinoma,hepatocellular carcinoma,brain glioma,chronic lymphocytic leukemia,cervix carcinoma,urinary bladder urothelial carcinoma 26619011 ENST00000269305:c.713G>T 17 7577568 7577568 C A GRCh37 TP53 missense p.C238F ovarian serous cystadenocarcinoma,glioblastoma multiforme,breast cancer,head and neck squamous cell carcinoma,colorectal cancer,uterine carcinosarcoma,uterine corpus endometrial carcinoma,pancreas adenocarcinoma,esophageal carcinoma,gastric adenocarcinoma,multiple myeloma,lung adenocarcinoma,hepatocellular carcinoma,brain glioma,chronic lymphocytic leukemia,cervix carcinoma,urinary bladder urothelial carcinoma 26619011 ENST00000269305:c.713G>C 17 7577568 7577568 C G GRCh37 TP53 missense p.C238S ovarian serous cystadenocarcinoma,glioblastoma multiforme,breast cancer,head and neck squamous cell carcinoma,colorectal cancer,uterine carcinosarcoma,uterine corpus endometrial carcinoma,pancreas adenocarcinoma,esophageal carcinoma,gastric adenocarcinoma,multiple myeloma,lung adenocarcinoma,hepatocellular carcinoma,brain glioma,chronic lymphocytic leukemia,cervix carcinoma,urinary bladder urothelial carcinoma 26619011 ENST00000269305:c.712T>C 17 7577569 7577569 A G GRCh37 TP53 missense p.C238R ovarian serous cystadenocarcinoma,glioblastoma multiforme,breast cancer,head and neck squamous cell carcinoma,colorectal cancer,uterine carcinosarcoma,uterine corpus endometrial carcinoma,pancreas adenocarcinoma,esophageal carcinoma,gastric adenocarcinoma,multiple myeloma,lung adenocarcinoma,hepatocellular carcinoma,brain glioma,chronic lymphocytic leukemia,cervix carcinoma,urinary bladder urothelial carcinoma 26619011 ENST00000269305:c.712T>G 17 7577569 7577569 A C GRCh37 TP53 missense p.C238G ovarian serous cystadenocarcinoma,glioblastoma multiforme,breast cancer,head and neck squamous cell carcinoma,colorectal cancer,uterine carcinosarcoma,uterine corpus endometrial carcinoma,pancreas adenocarcinoma,esophageal carcinoma,gastric adenocarcinoma,multiple myeloma,lung adenocarcinoma,hepatocellular carcinoma,brain glioma,chronic lymphocytic leukemia,cervix carcinoma,urinary bladder urothelial carcinoma 26619011 ENST00000269305:c.711G>A 17 7577570 7577570 C T GRCh37 TP53 missense p.M237I ovarian serous cystadenocarcinoma,lung adenocarcinoma,brain glioma,head and neck squamous cell carcinoma,esophageal carcinoma,gastric adenocarcinoma,uterine corpus endometrial carcinoma,pancreas adenocarcinoma,lung squamous cell carcinoma,brain stem glioma,colorectal cancer,breast cancer 26619011 ENST00000413465:c.710T>A 17 7577571 7577571 A T GRCh37 TP53 missense p.M237K ovarian serous cystadenocarcinoma,lung adenocarcinoma,brain glioma,head and neck squamous cell carcinoma,esophageal carcinoma,gastric adenocarcinoma,uterine corpus endometrial carcinoma,pancreas adenocarcinoma,lung squamous cell carcinoma,brain stem glioma,colorectal cancer,breast cancer 26619011 ENST00000413465:c.709A>G 17 7577572 7577572 T C GRCh37 TP53 missense p.M237V ovarian serous cystadenocarcinoma,lung adenocarcinoma,brain glioma,head and neck squamous cell carcinoma,esophageal carcinoma,gastric adenocarcinoma,uterine corpus endometrial carcinoma,pancreas adenocarcinoma,lung squamous cell carcinoma,brain stem glioma,colorectal cancer,breast cancer 26619011 ENST00000269305:c.707A>G 17 7577574 7577574 T C GRCh37 TP53 missense p.Y236C head and neck squamous cell carcinoma,lung adenocarcinoma,brain glioma,pancreas adenocarcinoma,ovarian serous cystadenocarcinoma,colorectal cancer,gastric adenocarcinoma,prostate adenocarcinoma,lung squamous cell carcinoma,skin squamous cell carcinoma,breast cancer 26619011 ENST00000269305:c.706T>A 17 7577575 7577575 A T GRCh37 TP53 missense p.Y236N head and neck squamous cell carcinoma,lung adenocarcinoma,brain glioma,pancreas adenocarcinoma,ovarian serous cystadenocarcinoma,colorectal cancer,gastric adenocarcinoma,prostate adenocarcinoma,lung squamous cell carcinoma,skin squamous cell carcinoma,breast cancer 26619011 ENST00000269305:c.706T>G 17 7577575 7577575 A C GRCh37 TP53 missense p.Y236D head and neck squamous cell carcinoma,lung adenocarcinoma,brain glioma,pancreas adenocarcinoma,ovarian serous cystadenocarcinoma,colorectal cancer,gastric adenocarcinoma,prostate adenocarcinoma,lung squamous cell carcinoma,skin squamous cell carcinoma,breast cancer 26619011 ENST00000413465:c.701A>G 17 7577580 7577580 T C GRCh37 TP53 missense p.Y234C ovarian serous cystadenocarcinoma,breast cancer,lung squamous cell carcinoma,head and neck squamous cell carcinoma,glioblastoma multiforme,gastric adenocarcinoma,hepatocellular carcinoma,esophageal carcinoma,prostate adenocarcinoma,pancreas adenocarcinoma,lung small cell carcinoma,colorectal cancer,urinary bladder urothelial carcinoma,adrenocortical carcinoma 26619011 ENST00000413465:c.701A>C 17 7577580 7577580 T G GRCh37 TP53 missense p.Y234S ovarian serous cystadenocarcinoma,breast cancer,lung squamous cell carcinoma,head and neck squamous cell carcinoma,glioblastoma multiforme,gastric adenocarcinoma,hepatocellular carcinoma,esophageal carcinoma,prostate adenocarcinoma,pancreas adenocarcinoma,lung small cell carcinoma,colorectal cancer,urinary bladder urothelial carcinoma,adrenocortical carcinoma 26619011 ENST00000413465:c.700T>C 17 7577581 7577581 A G GRCh37 TP53 missense p.Y234H ovarian serous cystadenocarcinoma,breast cancer,lung squamous cell carcinoma,head and neck squamous cell carcinoma,glioblastoma multiforme,gastric adenocarcinoma,hepatocellular carcinoma,esophageal carcinoma,prostate adenocarcinoma,pancreas adenocarcinoma,lung small cell carcinoma,colorectal cancer,urinary bladder urothelial carcinoma,adrenocortical carcinoma 26619011 ENST00000413465:c.700T>A 17 7577581 7577581 A T GRCh37 TP53 missense p.Y234N ovarian serous cystadenocarcinoma,breast cancer,lung squamous cell carcinoma,head and neck squamous cell carcinoma,glioblastoma multiforme,gastric adenocarcinoma,hepatocellular carcinoma,esophageal carcinoma,prostate adenocarcinoma,pancreas adenocarcinoma,lung small cell carcinoma,colorectal cancer,urinary bladder urothelial carcinoma,adrenocortical carcinoma 26619011 ENST00000413465:c.700T>G 17 7577581 7577581 A C GRCh37 TP53 missense p.Y234D ovarian serous cystadenocarcinoma,breast cancer,lung squamous cell carcinoma,head and neck squamous cell carcinoma,glioblastoma multiforme,gastric adenocarcinoma,hepatocellular carcinoma,esophageal carcinoma,prostate adenocarcinoma,pancreas adenocarcinoma,lung small cell carcinoma,colorectal cancer,urinary bladder urothelial carcinoma,adrenocortical carcinoma 26619011 ENST00000269305:c.659A>G 17 7578190 7578190 T C GRCh37 TP53 missense p.Y220C acute myeloid leukemia,ovarian serous cystadenocarcinoma,breast cancer,brain glioma,head and neck squamous cell carcinoma,hepatocellular carcinoma,pancreas adenocarcinoma,glioblastoma multiforme,uterine corpus endometrial carcinoma,lung adenocarcinoma,gastric adenocarcinoma,lung squamous cell carcinoma,colorectal cancer,uterine carcinosarcoma,skin melanoma,prostate adenocarcinoma,lung small cell carcinoma,papillary renal cell carcinoma,chromophobe adenocarcinoma,urinary bladder urothelial carcinoma 24381225,24487413,24641375,26619011 ENST00000269305:c.659A>C 17 7578190 7578190 T G GRCh37 TP53 missense p.Y220S ovarian serous cystadenocarcinoma,breast cancer,brain glioma,head and neck squamous cell carcinoma,hepatocellular carcinoma,pancreas adenocarcinoma,glioblastoma multiforme,uterine corpus endometrial carcinoma,lung adenocarcinoma,gastric adenocarcinoma,lung squamous cell carcinoma,colorectal cancer,uterine carcinosarcoma,skin melanoma,prostate adenocarcinoma,lung small cell carcinoma,papillary renal cell carcinoma,chromophobe adenocarcinoma,urinary bladder urothelial carcinoma 26619011 ENST00000269305:c.658T>C 17 7578191 7578191 A G GRCh37 TP53 missense p.Y220H ovarian serous cystadenocarcinoma,breast cancer,brain glioma,head and neck squamous cell carcinoma,hepatocellular carcinoma,pancreas adenocarcinoma,glioblastoma multiforme,uterine corpus endometrial carcinoma,lung adenocarcinoma,gastric adenocarcinoma,lung squamous cell carcinoma,colorectal cancer,uterine carcinosarcoma,skin melanoma,prostate adenocarcinoma,lung small cell carcinoma,papillary renal cell carcinoma,chromophobe adenocarcinoma,urinary bladder urothelial carcinoma 26619011 ENST00000269305:c.658T>A 17 7578191 7578191 A T GRCh37 TP53 missense p.Y220N ovarian serous cystadenocarcinoma,breast cancer,brain glioma,head and neck squamous cell carcinoma,hepatocellular carcinoma,pancreas adenocarcinoma,glioblastoma multiforme,uterine corpus endometrial carcinoma,lung adenocarcinoma,gastric adenocarcinoma,lung squamous cell carcinoma,colorectal cancer,uterine carcinosarcoma,skin melanoma,prostate adenocarcinoma,lung small cell carcinoma,papillary renal cell carcinoma,chromophobe adenocarcinoma,urinary bladder urothelial carcinoma 26619011 ENST00000269305:c.658T>G 17 7578191 7578191 A C GRCh37 TP53 missense p.Y220D ovarian serous cystadenocarcinoma,breast cancer,brain glioma,head and neck squamous cell carcinoma,hepatocellular carcinoma,pancreas adenocarcinoma,glioblastoma multiforme,uterine corpus endometrial carcinoma,lung adenocarcinoma,gastric adenocarcinoma,lung squamous cell carcinoma,colorectal cancer,uterine carcinosarcoma,skin melanoma,prostate adenocarcinoma,lung small cell carcinoma,papillary renal cell carcinoma,chromophobe adenocarcinoma,urinary bladder urothelial carcinoma 26619011 ENST00000269305:c.647T>G 17 7578202 7578202 A C GRCh37 TP53 missense p.V216G ovarian serous cystadenocarcinoma,breast cancer,brain glioma,glioblastoma multiforme,uterine carcinosarcoma,pancreas adenocarcinoma,lung squamous cell carcinoma,lung adenocarcinoma,head and neck squamous cell carcinoma,esophageal carcinoma,skin squamous cell carcinoma 26619011 ENST00000269305:c.647T>A 17 7578202 7578202 A T GRCh37 TP53 missense p.V216E ovarian serous cystadenocarcinoma,breast cancer,brain glioma,glioblastoma multiforme,uterine carcinosarcoma,pancreas adenocarcinoma,lung squamous cell carcinoma,lung adenocarcinoma,head and neck squamous cell carcinoma,esophageal carcinoma,skin squamous cell carcinoma 26619011 ENST00000269305:c.646G>A 17 7578203 7578203 C T GRCh37 TP53 missense p.V216M ovarian serous cystadenocarcinoma,breast cancer,brain glioma,glioblastoma multiforme,uterine carcinosarcoma,pancreas adenocarcinoma,lung squamous cell carcinoma,lung adenocarcinoma,head and neck squamous cell carcinoma,esophageal carcinoma,skin squamous cell carcinoma 26619011 ENST00000269305:c.646G>T 17 7578203 7578203 C A GRCh37 TP53 missense p.V216L ovarian serous cystadenocarcinoma,breast cancer,brain glioma,glioblastoma multiforme,uterine carcinosarcoma,pancreas adenocarcinoma,lung squamous cell carcinoma,lung adenocarcinoma,head and neck squamous cell carcinoma,esophageal carcinoma,skin squamous cell carcinoma 26619011 ENST00000269305:c.645T>G 17 7578204 7578204 A C GRCh37 TP53 missense p.S215R hepatocellular carcinoma,pancreas adenocarcinoma,ovarian serous cystadenocarcinoma,lung adenocarcinoma,breast cancer,gastric adenocarcinoma,lung small cell carcinoma,acute myeloid leukemia,esophageal carcinoma 26619011 ENST00000269305:c.644G>T 17 7578205 7578205 C A GRCh37 TP53 missense p.S215I hepatocellular carcinoma,pancreas adenocarcinoma,ovarian serous cystadenocarcinoma,lung adenocarcinoma,breast cancer,gastric adenocarcinoma,lung small cell carcinoma,acute myeloid leukemia,esophageal carcinoma 26619011 ENST00000269305:c.644G>A 17 7578205 7578205 C T GRCh37 TP53 missense p.S215N hepatocellular carcinoma,pancreas adenocarcinoma,ovarian serous cystadenocarcinoma,lung adenocarcinoma,breast cancer,gastric adenocarcinoma,lung small cell carcinoma,acute myeloid leukemia,esophageal carcinoma 26619011 ENST00000269305:c.643A>G 17 7578206 7578206 T C GRCh37 TP53 missense p.S215G hepatocellular carcinoma,pancreas adenocarcinoma,ovarian serous cystadenocarcinoma,lung adenocarcinoma,breast cancer,gastric adenocarcinoma,lung small cell carcinoma,acute myeloid leukemia,esophageal carcinoma 26619011 ENST00000413465:c.641A>G 17 7578208 7578208 T C GRCh37 TP53 missense p.H214R gastric adenocarcinoma,pancreas adenocarcinoma,lung squamous cell carcinoma,hepatocellular carcinoma,esophageal carcinoma,ovarian serous cystadenocarcinoma,chromophobe adenocarcinoma,glioblastoma multiforme,colorectal cancer,chronic lymphocytic leukemia,urinary bladder urothelial carcinoma 26619011 ENST00000413465:c.641A>T 17 7578208 7578208 T A GRCh37 TP53 missense p.H214L gastric adenocarcinoma,pancreas adenocarcinoma,lung squamous cell carcinoma,hepatocellular carcinoma,esophageal carcinoma,ovarian serous cystadenocarcinoma,chromophobe adenocarcinoma,glioblastoma multiforme,colorectal cancer,chronic lymphocytic leukemia,urinary bladder urothelial carcinoma 26619011 ENST00000269305:c.638G>A 17 7578211 7578211 C T GRCh37 TP53 missense p.R213Q colorectal cancer,head and neck squamous cell carcinoma,esophageal carcinoma,breast cancer,skin melanoma,gastric adenocarcinoma,lung adenocarcinoma,pancreas adenocarcinoma,ovarian serous cystadenocarcinoma,lung squamous cell carcinoma,hepatocellular carcinoma,uterine corpus endometrial carcinoma,chromophobe adenocarcinoma,brain glioma,glioblastoma multiforme,skin squamous cell carcinoma,urinary bladder urothelial carcinoma,uterine carcinosarcoma,prostate adenocarcinoma,nasopharynx carcinoma,renal clear cell carcinoma,salivary gland adenoid cystic carcinoma,adrenocortical carcinoma 26619011 ENST00000269305:c.638G>T 17 7578211 7578211 C A GRCh37 TP53 missense p.R213L colorectal cancer,head and neck squamous cell carcinoma,esophageal carcinoma,breast cancer,skin melanoma,gastric adenocarcinoma,lung adenocarcinoma,pancreas adenocarcinoma,ovarian serous cystadenocarcinoma,lung squamous cell carcinoma,hepatocellular carcinoma,uterine corpus endometrial carcinoma,chromophobe adenocarcinoma,brain glioma,glioblastoma multiforme,skin squamous cell carcinoma,urinary bladder urothelial carcinoma,uterine carcinosarcoma,prostate adenocarcinoma,nasopharynx carcinoma,renal clear cell carcinoma,salivary gland adenoid cystic carcinoma,adrenocortical carcinoma 26619011 ENST00000269305:c.638G>C 17 7578211 7578211 C G GRCh37 TP53 missense p.R213P colorectal cancer,head and neck squamous cell carcinoma,esophageal carcinoma,breast cancer,skin melanoma,gastric adenocarcinoma,lung adenocarcinoma,pancreas adenocarcinoma,ovarian serous cystadenocarcinoma,lung squamous cell carcinoma,hepatocellular carcinoma,uterine corpus endometrial carcinoma,chromophobe adenocarcinoma,brain glioma,glioblastoma multiforme,skin squamous cell carcinoma,urinary bladder urothelial carcinoma,uterine carcinosarcoma,prostate adenocarcinoma,nasopharynx carcinoma,renal clear cell carcinoma,salivary gland adenoid cystic carcinoma,adrenocortical carcinoma 26619011 ENST00000269305:c.637C>G 17 7578212 7578212 G C GRCh37 TP53 missense p.R213G colorectal cancer,head and neck squamous cell carcinoma,esophageal carcinoma,breast cancer,skin melanoma,gastric adenocarcinoma,lung adenocarcinoma,pancreas adenocarcinoma,ovarian serous cystadenocarcinoma,lung squamous cell carcinoma,hepatocellular carcinoma,uterine corpus endometrial carcinoma,chromophobe adenocarcinoma,brain glioma,glioblastoma multiforme,skin squamous cell carcinoma,urinary bladder urothelial carcinoma,uterine carcinosarcoma,prostate adenocarcinoma,nasopharynx carcinoma,renal clear cell carcinoma,salivary gland adenoid cystic carcinoma,adrenocortical carcinoma 26619011 ENST00000413465:c.614A>G 17 7578235 7578235 T C GRCh37 TP53 missense p.Y205C lung adenocarcinoma,hepatocellular carcinoma,colorectal cancer,pancreas adenocarcinoma,ovarian serous cystadenocarcinoma,head and neck squamous cell carcinoma,esophageal carcinoma,breast cancer,uterine carcinosarcoma,uterine corpus endometrial carcinoma,multiple myeloma,non-Hodgkin lymphoma,lung squamous cell carcinoma,brain glioma,chromophobe adenocarcinoma,glioblastoma multiforme 26619011 ENST00000413465:c.614A>T 17 7578235 7578235 T A GRCh37 TP53 missense p.Y205F lung adenocarcinoma,hepatocellular carcinoma,colorectal cancer,pancreas adenocarcinoma,ovarian serous cystadenocarcinoma,head and neck squamous cell carcinoma,esophageal carcinoma,breast cancer,uterine carcinosarcoma,uterine corpus endometrial carcinoma,multiple myeloma,non-Hodgkin lymphoma,lung squamous cell carcinoma,brain glioma,chromophobe adenocarcinoma,glioblastoma multiforme 26619011 ENST00000455263:c.614A>C 17 7578235 7578235 T G GRCh37 TP53 missense p.Y205S lung adenocarcinoma,hepatocellular carcinoma,colorectal cancer,pancreas adenocarcinoma,ovarian serous cystadenocarcinoma,head and neck squamous cell carcinoma,esophageal carcinoma,breast cancer,uterine carcinosarcoma,uterine corpus endometrial carcinoma,multiple myeloma,non-Hodgkin lymphoma,lung squamous cell carcinoma,brain glioma,chromophobe adenocarcinoma,glioblastoma multiforme 26619011 ENST00000413465:c.613T>A 17 7578236 7578236 A T GRCh37 TP53 missense p.Y205N lung adenocarcinoma,hepatocellular carcinoma,colorectal cancer,pancreas adenocarcinoma,ovarian serous cystadenocarcinoma,head and neck squamous cell carcinoma,esophageal carcinoma,breast cancer,uterine carcinosarcoma,uterine corpus endometrial carcinoma,multiple myeloma,non-Hodgkin lymphoma,lung squamous cell carcinoma,brain glioma,chromophobe adenocarcinoma,glioblastoma multiforme 26619011 ENST00000413465:c.613T>C 17 7578236 7578236 A G GRCh37 TP53 missense p.Y205H lung adenocarcinoma,hepatocellular carcinoma,colorectal cancer,pancreas adenocarcinoma,ovarian serous cystadenocarcinoma,head and neck squamous cell carcinoma,esophageal carcinoma,breast cancer,uterine carcinosarcoma,uterine corpus endometrial carcinoma,multiple myeloma,non-Hodgkin lymphoma,lung squamous cell carcinoma,brain glioma,chromophobe adenocarcinoma,glioblastoma multiforme 26619011 ENST00000455263:c.613T>G 17 7578236 7578236 A C GRCh37 TP53 missense p.Y205D lung adenocarcinoma,hepatocellular carcinoma,colorectal cancer,pancreas adenocarcinoma,ovarian serous cystadenocarcinoma,head and neck squamous cell carcinoma,esophageal carcinoma,breast cancer,uterine carcinosarcoma,uterine corpus endometrial carcinoma,multiple myeloma,non-Hodgkin lymphoma,lung squamous cell carcinoma,brain glioma,chromophobe adenocarcinoma,glioblastoma multiforme 26619011 ENST00000413465:c.587G>C 17 7578262 7578262 C G GRCh37 TP53 missense p.R196P head and neck squamous cell carcinoma,breast cancer,colorectal cancer,pancreas adenocarcinoma,esophageal carcinoma,skin melanoma,glioblastoma multiforme,gastric adenocarcinoma,ovarian serous cystadenocarcinoma,lung adenocarcinoma,brain glioma,multiple myeloma,lung small cell carcinoma,lung squamous cell carcinoma,chromophobe adenocarcinoma,skin squamous cell carcinoma 26619011 ENST00000269305:c.585C>G 17 7578264 7578264 G C GRCh37 TP53 missense p.I195M ovarian serous cystadenocarcinoma,breast cancer,head and neck squamous cell carcinoma,colorectal cancer,hepatocellular carcinoma,brain glioma,multiple myeloma,glioblastoma multiforme,esophageal carcinoma,uterine carcinosarcoma,gastric adenocarcinoma,pancreas adenocarcinoma,lung squamous cell carcinoma,lung adenocarcinoma,acute myeloid leukemia,chronic lymphocytic leukemia 26619011 ENST00000269305:c.584T>C 17 7578265 7578265 A G GRCh37 TP53 missense p.I195T ovarian serous cystadenocarcinoma,breast cancer,head and neck squamous cell carcinoma,colorectal cancer,hepatocellular carcinoma,brain glioma,multiple myeloma,glioblastoma multiforme,esophageal carcinoma,uterine carcinosarcoma,gastric adenocarcinoma,pancreas adenocarcinoma,lung squamous cell carcinoma,lung adenocarcinoma,acute myeloid leukemia,chronic lymphocytic leukemia 26619011 ENST00000269305:c.584T>A 17 7578265 7578265 A T GRCh37 TP53 missense p.I195N ovarian serous cystadenocarcinoma,breast cancer,head and neck squamous cell carcinoma,colorectal cancer,hepatocellular carcinoma,brain glioma,multiple myeloma,glioblastoma multiforme,esophageal carcinoma,uterine carcinosarcoma,gastric adenocarcinoma,pancreas adenocarcinoma,lung squamous cell carcinoma,lung adenocarcinoma,acute myeloid leukemia,chronic lymphocytic leukemia 26619011 ENST00000269305:c.584T>G 17 7578265 7578265 A C GRCh37 TP53 missense p.I195S ovarian serous cystadenocarcinoma,breast cancer,head and neck squamous cell carcinoma,colorectal cancer,hepatocellular carcinoma,brain glioma,multiple myeloma,glioblastoma multiforme,esophageal carcinoma,uterine carcinosarcoma,gastric adenocarcinoma,pancreas adenocarcinoma,lung squamous cell carcinoma,lung adenocarcinoma,acute myeloid leukemia,chronic lymphocytic leukemia 26619011 ENST00000269305:c.583A>T 17 7578266 7578266 T A GRCh37 TP53 missense p.I195F ovarian serous cystadenocarcinoma,breast cancer,head and neck squamous cell carcinoma,colorectal cancer,hepatocellular carcinoma,brain glioma,multiple myeloma,glioblastoma multiforme,esophageal carcinoma,uterine carcinosarcoma,gastric adenocarcinoma,pancreas adenocarcinoma,lung squamous cell carcinoma,lung adenocarcinoma,acute myeloid leukemia,chronic lymphocytic leukemia 26619011 ENST00000269305:c.581T>G 17 7578268 7578268 A C GRCh37 TP53 missense p.L194R breast cancer,ovarian serous cystadenocarcinoma,lung adenocarcinoma,head and neck squamous cell carcinoma,colorectal cancer,urinary bladder urothelial carcinoma,pancreas adenocarcinoma,hepatocellular carcinoma,brain glioma,glioblastoma multiforme,cervix carcinoma 26619011 ENST00000269305:c.581T>A 17 7578268 7578268 A T GRCh37 TP53 missense p.L194H breast cancer,ovarian serous cystadenocarcinoma,lung adenocarcinoma,head and neck squamous cell carcinoma,colorectal cancer,urinary bladder urothelial carcinoma,pancreas adenocarcinoma,hepatocellular carcinoma,brain glioma,glioblastoma multiforme,cervix carcinoma 26619011 ENST00000269305:c.581T>C 17 7578268 7578268 A G GRCh37 TP53 missense p.L194P breast cancer,ovarian serous cystadenocarcinoma,lung adenocarcinoma,head and neck squamous cell carcinoma,colorectal cancer,urinary bladder urothelial carcinoma,pancreas adenocarcinoma,hepatocellular carcinoma,brain glioma,glioblastoma multiforme,cervix carcinoma 26619011 ENST00000269305:c.580C>T 17 7578269 7578269 G A GRCh37 TP53 missense p.L194F breast cancer,ovarian serous cystadenocarcinoma,lung adenocarcinoma,head and neck squamous cell carcinoma,colorectal cancer,urinary bladder urothelial carcinoma,pancreas adenocarcinoma,hepatocellular carcinoma,brain glioma,glioblastoma multiforme,cervix carcinoma 26619011 ENST00000269305:c.578A>G 17 7578271 7578271 T C GRCh37 TP53 missense p.H193R breast cancer,head and neck squamous cell carcinoma,ovarian serous cystadenocarcinoma,lung adenocarcinoma,lung squamous cell carcinoma,hepatocellular carcinoma,brain glioma,uterine carcinosarcoma,esophageal carcinoma,uterine corpus endometrial carcinoma,pancreas adenocarcinoma,gastric adenocarcinoma,prostate adenocarcinoma,lung small cell carcinoma,acute myeloid leukemia,papillary renal cell carcinoma,brain stem glioma,colorectal cancer,chronic lymphocytic leukemia,urinary bladder urothelial carcinoma 26619011 ENST00000269305:c.578A>T 17 7578271 7578271 T A GRCh37 TP53 missense p.H193L breast cancer,head and neck squamous cell carcinoma,ovarian serous cystadenocarcinoma,lung adenocarcinoma,lung squamous cell carcinoma,hepatocellular carcinoma,brain glioma,uterine carcinosarcoma,esophageal carcinoma,uterine corpus endometrial carcinoma,pancreas adenocarcinoma,gastric adenocarcinoma,prostate adenocarcinoma,lung small cell carcinoma,acute myeloid leukemia,papillary renal cell carcinoma,brain stem glioma,colorectal cancer,chronic lymphocytic leukemia,urinary bladder urothelial carcinoma 26619011 ENST00000269305:c.578A>C 17 7578271 7578271 T G GRCh37 TP53 missense p.H193P breast cancer,head and neck squamous cell carcinoma,ovarian serous cystadenocarcinoma,lung adenocarcinoma,lung squamous cell carcinoma,hepatocellular carcinoma,brain glioma,uterine carcinosarcoma,esophageal carcinoma,uterine corpus endometrial carcinoma,pancreas adenocarcinoma,gastric adenocarcinoma,prostate adenocarcinoma,lung small cell carcinoma,acute myeloid leukemia,papillary renal cell carcinoma,brain stem glioma,colorectal cancer,chronic lymphocytic leukemia,urinary bladder urothelial carcinoma 26619011 ENST00000269305:c.577C>T 17 7578272 7578272 G A GRCh37 TP53 missense p.H193Y breast cancer,head and neck squamous cell carcinoma,ovarian serous cystadenocarcinoma,lung adenocarcinoma,lung squamous cell carcinoma,hepatocellular carcinoma,brain glioma,uterine carcinosarcoma,esophageal carcinoma,uterine corpus endometrial carcinoma,pancreas adenocarcinoma,gastric adenocarcinoma,prostate adenocarcinoma,lung small cell carcinoma,acute myeloid leukemia,papillary renal cell carcinoma,brain stem glioma,colorectal cancer,chronic lymphocytic leukemia,urinary bladder urothelial carcinoma 26619011 ENST00000269305:c.577C>G 17 7578272 7578272 G C GRCh37 TP53 missense p.H193D breast cancer,head and neck squamous cell carcinoma,ovarian serous cystadenocarcinoma,lung adenocarcinoma,lung squamous cell carcinoma,hepatocellular carcinoma,brain glioma,uterine carcinosarcoma,esophageal carcinoma,uterine corpus endometrial carcinoma,pancreas adenocarcinoma,gastric adenocarcinoma,prostate adenocarcinoma,lung small cell carcinoma,acute myeloid leukemia,papillary renal cell carcinoma,brain stem glioma,colorectal cancer,chronic lymphocytic leukemia,urinary bladder urothelial carcinoma 26619011 ENST00000269305:c.577C>A 17 7578272 7578272 G T GRCh37 TP53 missense p.H193N breast cancer,head and neck squamous cell carcinoma,ovarian serous cystadenocarcinoma,lung adenocarcinoma,lung squamous cell carcinoma,hepatocellular carcinoma,brain glioma,uterine carcinosarcoma,esophageal carcinoma,uterine corpus endometrial carcinoma,pancreas adenocarcinoma,gastric adenocarcinoma,prostate adenocarcinoma,lung small cell carcinoma,acute myeloid leukemia,papillary renal cell carcinoma,brain stem glioma,colorectal cancer,chronic lymphocytic leukemia,urinary bladder urothelial carcinoma 26619011 ENST00000269305:c.537T>G 17 7578393 7578393 A C GRCh37 TP53 missense p.H179Q head and neck squamous cell carcinoma,breast cancer,brain glioma,ovarian serous cystadenocarcinoma,pancreas adenocarcinoma,lung squamous cell carcinoma,uterine carcinosarcoma,gastric adenocarcinoma,lung adenocarcinoma,hepatocellular carcinoma,glioblastoma multiforme,esophageal carcinoma,skin squamous cell carcinoma,uterine corpus endometrial carcinoma,skin melanoma,lung small cell carcinoma,acute myeloid leukemia,gallbladder carcinoma,colorectal cancer 26619011 ENST00000269305:c.536A>G 17 7578394 7578394 T C GRCh37 TP53 missense p.H179R head and neck squamous cell carcinoma,breast cancer,brain glioma,ovarian serous cystadenocarcinoma,pancreas adenocarcinoma,lung squamous cell carcinoma,uterine carcinosarcoma,gastric adenocarcinoma,lung adenocarcinoma,hepatocellular carcinoma,glioblastoma multiforme,esophageal carcinoma,skin squamous cell carcinoma,uterine corpus endometrial carcinoma,skin melanoma,lung small cell carcinoma,acute myeloid leukemia,gallbladder carcinoma,colorectal cancer 26619011 ENST00000269305:c.536A>T 17 7578394 7578394 T A GRCh37 TP53 missense p.H179L head and neck squamous cell carcinoma,breast cancer,brain glioma,ovarian serous cystadenocarcinoma,pancreas adenocarcinoma,lung squamous cell carcinoma,uterine carcinosarcoma,gastric adenocarcinoma,lung adenocarcinoma,hepatocellular carcinoma,glioblastoma multiforme,esophageal carcinoma,skin squamous cell carcinoma,uterine corpus endometrial carcinoma,skin melanoma,lung small cell carcinoma,acute myeloid leukemia,gallbladder carcinoma,colorectal cancer 26619011 ENST00000269305:c.536A>C 17 7578394 7578394 T G GRCh37 TP53 missense p.H179P head and neck squamous cell carcinoma,breast cancer,brain glioma,ovarian serous cystadenocarcinoma,pancreas adenocarcinoma,lung squamous cell carcinoma,uterine carcinosarcoma,gastric adenocarcinoma,lung adenocarcinoma,hepatocellular carcinoma,glioblastoma multiforme,esophageal carcinoma,skin squamous cell carcinoma,uterine corpus endometrial carcinoma,skin melanoma,lung small cell carcinoma,acute myeloid leukemia,gallbladder carcinoma,colorectal cancer 26619011 ENST00000269305:c.535C>T 17 7578395 7578395 G A GRCh37 TP53 missense p.H179Y head and neck squamous cell carcinoma,breast cancer,brain glioma,ovarian serous cystadenocarcinoma,pancreas adenocarcinoma,lung squamous cell carcinoma,uterine carcinosarcoma,gastric adenocarcinoma,lung adenocarcinoma,hepatocellular carcinoma,glioblastoma multiforme,esophageal carcinoma,skin squamous cell carcinoma,uterine corpus endometrial carcinoma,skin melanoma,lung small cell carcinoma,acute myeloid leukemia,gallbladder carcinoma,colorectal cancer 26619011 ENST00000269305:c.535C>A 17 7578395 7578395 G T GRCh37 TP53 missense p.H179N head and neck squamous cell carcinoma,breast cancer,brain glioma,ovarian serous cystadenocarcinoma,pancreas adenocarcinoma,lung squamous cell carcinoma,uterine carcinosarcoma,gastric adenocarcinoma,lung adenocarcinoma,hepatocellular carcinoma,glioblastoma multiforme,esophageal carcinoma,skin squamous cell carcinoma,uterine corpus endometrial carcinoma,skin melanoma,lung small cell carcinoma,acute myeloid leukemia,gallbladder carcinoma,colorectal cancer 26619011 ENST00000269305:c.535C>G 17 7578395 7578395 G C GRCh37 TP53 missense p.H179D head and neck squamous cell carcinoma,breast cancer,brain glioma,ovarian serous cystadenocarcinoma,pancreas adenocarcinoma,lung squamous cell carcinoma,uterine carcinosarcoma,gastric adenocarcinoma,lung adenocarcinoma,hepatocellular carcinoma,glioblastoma multiforme,esophageal carcinoma,skin squamous cell carcinoma,uterine corpus endometrial carcinoma,skin melanoma,lung small cell carcinoma,acute myeloid leukemia,gallbladder carcinoma,colorectal cancer 26619011 ENST00000413465:c.528C>G 17 7578402 7578402 G C GRCh37 TP53 missense p.C176W ovarian serous cystadenocarcinoma,head and neck squamous cell carcinoma,colorectal cancer,breast cancer,gastric adenocarcinoma,esophageal carcinoma,pancreas adenocarcinoma,lung adenocarcinoma,brain glioma,lung squamous cell carcinoma,prostate adenocarcinoma,hepatocellular carcinoma,acute myeloid leukemia,chromophobe adenocarcinoma,urinary bladder urothelial carcinoma 26619011 ENST00000413465:c.527G>T 17 7578403 7578403 C A GRCh37 TP53 missense p.C176F ovarian serous cystadenocarcinoma,head and neck squamous cell carcinoma,colorectal cancer,breast cancer,gastric adenocarcinoma,esophageal carcinoma,pancreas adenocarcinoma,lung adenocarcinoma,brain glioma,lung squamous cell carcinoma,prostate adenocarcinoma,hepatocellular carcinoma,acute myeloid leukemia,chromophobe adenocarcinoma,urinary bladder urothelial carcinoma 26619011 ENST00000413465:c.527G>A 17 7578403 7578403 C T GRCh37 TP53 missense p.C176Y ovarian serous cystadenocarcinoma,head and neck squamous cell carcinoma,colorectal cancer,breast cancer,gastric adenocarcinoma,esophageal carcinoma,pancreas adenocarcinoma,lung adenocarcinoma,brain glioma,lung squamous cell carcinoma,prostate adenocarcinoma,hepatocellular carcinoma,acute myeloid leukemia,chromophobe adenocarcinoma,urinary bladder urothelial carcinoma 26619011 ENST00000269305:c.526T>A 17 7578404 7578404 A T GRCh37 TP53 missense p.C176S ovarian serous cystadenocarcinoma,head and neck squamous cell carcinoma,colorectal cancer,breast cancer,gastric adenocarcinoma,esophageal carcinoma,pancreas adenocarcinoma,lung adenocarcinoma,brain glioma,lung squamous cell carcinoma,prostate adenocarcinoma,hepatocellular carcinoma,acute myeloid leukemia,chromophobe adenocarcinoma,urinary bladder urothelial carcinoma 26619011 ENST00000413465:c.526T>G 17 7578404 7578404 A C GRCh37 TP53 missense p.C176G ovarian serous cystadenocarcinoma,head and neck squamous cell carcinoma,colorectal cancer,breast cancer,gastric adenocarcinoma,esophageal carcinoma,pancreas adenocarcinoma,lung adenocarcinoma,brain glioma,lung squamous cell carcinoma,prostate adenocarcinoma,hepatocellular carcinoma,acute myeloid leukemia,chromophobe adenocarcinoma,urinary bladder urothelial carcinoma 26619011 ENST00000413465:c.526T>C 17 7578404 7578404 A G GRCh37 TP53 missense p.C176R ovarian serous cystadenocarcinoma,head and neck squamous cell carcinoma,colorectal cancer,breast cancer,gastric adenocarcinoma,esophageal carcinoma,pancreas adenocarcinoma,lung adenocarcinoma,brain glioma,lung squamous cell carcinoma,prostate adenocarcinoma,hepatocellular carcinoma,acute myeloid leukemia,chromophobe adenocarcinoma,urinary bladder urothelial carcinoma 26619011 ENST00000269305:c.524G>A 17 7578406 7578406 C T GRCh37 TP53 missense p.R175H cancer,breast cancer 11101847,18391940,25157968,16489069,22698404 ENST00000413465:c.524G>A 17 7578406 7578406 C T GRCh37 TP53 missense p.R175H colorectal cancer,breast cancer,ovarian serous cystadenocarcinoma,head and neck squamous cell carcinoma,esophageal carcinoma,gastric adenocarcinoma,pancreas adenocarcinoma,glioblastoma multiforme,brain glioma,urinary bladder urothelial carcinoma,prostate adenocarcinoma,lung squamous cell carcinoma,lung adenocarcinoma,uterine carcinosarcoma,uterine corpus endometrial carcinoma,brain stem glioma,skin melanoma,nasopharynx carcinoma,medulloblastoma,hepatocellular carcinoma,gallbladder carcinoma,chronic lymphocytic leukemia 26619011 ENST00000413465:c.523C>G 17 7578407 7578407 G C GRCh37 TP53 missense p.R175G colorectal cancer,breast cancer,ovarian serous cystadenocarcinoma,head and neck squamous cell carcinoma,esophageal carcinoma,gastric adenocarcinoma,pancreas adenocarcinoma,glioblastoma multiforme,brain glioma,urinary bladder urothelial carcinoma,prostate adenocarcinoma,lung squamous cell carcinoma,lung adenocarcinoma,uterine carcinosarcoma,uterine corpus endometrial carcinoma,brain stem glioma,skin melanoma,nasopharynx carcinoma,medulloblastoma,hepatocellular carcinoma,gallbladder carcinoma,chronic lymphocytic leukemia 26619011 ENST00000413465:c.523C>T 17 7578407 7578407 G A GRCh37 TP53 missense p.R175C colorectal cancer,breast cancer,ovarian serous cystadenocarcinoma,head and neck squamous cell carcinoma,esophageal carcinoma,gastric adenocarcinoma,pancreas adenocarcinoma,glioblastoma multiforme,brain glioma,urinary bladder urothelial carcinoma,prostate adenocarcinoma,lung squamous cell carcinoma,lung adenocarcinoma,uterine carcinosarcoma,uterine corpus endometrial carcinoma,brain stem glioma,skin melanoma,nasopharynx carcinoma,medulloblastoma,hepatocellular carcinoma,gallbladder carcinoma,chronic lymphocytic leukemia 26619011 ENST00000269305:c.518T>C 17 7578412 7578412 A G GRCh37 TP53 missense p.V173A acute myeloid leukemia,head and neck squamous cell carcinoma,breast cancer,lung adenocarcinoma,brain glioma,gastric adenocarcinoma,pancreas adenocarcinoma,ovarian serous cystadenocarcinoma,colorectal cancer,uterine corpus endometrial carcinoma,skin melanoma,lung small cell carcinoma,hepatocellular carcinoma,brain stem glioma,esophageal carcinoma,adrenocortical carcinoma 24641375,24381225,24487413,26619011 ENST00000269305:c.518T>G 17 7578412 7578412 A C GRCh37 TP53 missense p.V173G acute myeloid leukemia,head and neck squamous cell carcinoma,breast cancer,lung adenocarcinoma,brain glioma,gastric adenocarcinoma,pancreas adenocarcinoma,ovarian serous cystadenocarcinoma,colorectal cancer,uterine corpus endometrial carcinoma,skin melanoma,lung small cell carcinoma,hepatocellular carcinoma,brain stem glioma,esophageal carcinoma,adrenocortical carcinoma 24381225,24487413,24641375,26619011 ENST00000269305:c.518T>A 17 7578412 7578412 A T GRCh37 TP53 missense p.V173E head and neck squamous cell carcinoma,breast cancer,lung adenocarcinoma,brain glioma,gastric adenocarcinoma,pancreas adenocarcinoma,ovarian serous cystadenocarcinoma,colorectal cancer,uterine corpus endometrial carcinoma,skin melanoma,lung small cell carcinoma,hepatocellular carcinoma,brain stem glioma,esophageal carcinoma,adrenocortical carcinoma 26619011 ENST00000269305:c.517G>T 17 7578413 7578413 C A GRCh37 TP53 missense p.V173L head and neck squamous cell carcinoma,breast cancer,lung adenocarcinoma,brain glioma,gastric adenocarcinoma,pancreas adenocarcinoma,ovarian serous cystadenocarcinoma,colorectal cancer,uterine corpus endometrial carcinoma,skin melanoma,lung small cell carcinoma,hepatocellular carcinoma,brain stem glioma,esophageal carcinoma,adrenocortical carcinoma 26619011 ENST00000269305:c.517G>A 17 7578413 7578413 C T GRCh37 TP53 missense p.V173M head and neck squamous cell carcinoma,breast cancer,lung adenocarcinoma,brain glioma,gastric adenocarcinoma,pancreas adenocarcinoma,ovarian serous cystadenocarcinoma,colorectal cancer,uterine corpus endometrial carcinoma,skin melanoma,lung small cell carcinoma,hepatocellular carcinoma,brain stem glioma,esophageal carcinoma,adrenocortical carcinoma 26619011 ENST00000269305:c.488A>G 17 7578442 7578442 T C GRCh37 TP53 missense p.Y163C head and neck squamous cell carcinoma,ovarian serous cystadenocarcinoma,lung adenocarcinoma,breast cancer,lung squamous cell carcinoma,hepatocellular carcinoma,esophageal carcinoma,uterine carcinosarcoma,skin melanoma,pancreas adenocarcinoma,lung small cell carcinoma,brain glioma,brain stem glioma,colorectal cancer 26619011 ENST00000269305:c.487T>A 17 7578443 7578443 A T GRCh37 TP53 missense p.Y163N head and neck squamous cell carcinoma,ovarian serous cystadenocarcinoma,lung adenocarcinoma,breast cancer,lung squamous cell carcinoma,hepatocellular carcinoma,esophageal carcinoma,uterine carcinosarcoma,skin melanoma,pancreas adenocarcinoma,lung small cell carcinoma,brain glioma,brain stem glioma,colorectal cancer 26619011 ENST00000269305:c.487T>C 17 7578443 7578443 A G GRCh37 TP53 missense p.Y163H head and neck squamous cell carcinoma,ovarian serous cystadenocarcinoma,lung adenocarcinoma,breast cancer,lung squamous cell carcinoma,hepatocellular carcinoma,esophageal carcinoma,uterine carcinosarcoma,skin melanoma,pancreas adenocarcinoma,lung small cell carcinoma,brain glioma,brain stem glioma,colorectal cancer 26619011 ENST00000269305:c.487T>G 17 7578443 7578443 A C GRCh37 TP53 missense p.Y163D head and neck squamous cell carcinoma,ovarian serous cystadenocarcinoma,lung adenocarcinoma,breast cancer,lung squamous cell carcinoma,hepatocellular carcinoma,esophageal carcinoma,uterine carcinosarcoma,skin melanoma,pancreas adenocarcinoma,lung small cell carcinoma,brain glioma,brain stem glioma,colorectal cancer 26619011 ENST00000413465:c.452C>A 17 7578478 7578478 G T GRCh37 TP53 missense p.P151H head and neck squamous cell carcinoma,ovarian serous cystadenocarcinoma,colorectal cancer,breast cancer,uterine carcinosarcoma,pancreas adenocarcinoma,hepatocellular carcinoma,uterine corpus endometrial carcinoma,gastric adenocarcinoma,skin melanoma,multiple myeloma,lung squamous cell carcinoma,lung adenocarcinoma,brain glioma,esophageal carcinoma,urinary bladder urothelial carcinoma,salivary gland adenoid cystic carcinoma 26619011 ENST00000413465:c.452C>G 17 7578478 7578478 G C GRCh37 TP53 missense p.P151R head and neck squamous cell carcinoma,ovarian serous cystadenocarcinoma,colorectal cancer,breast cancer,uterine carcinosarcoma,pancreas adenocarcinoma,hepatocellular carcinoma,uterine corpus endometrial carcinoma,gastric adenocarcinoma,skin melanoma,multiple myeloma,lung squamous cell carcinoma,lung adenocarcinoma,brain glioma,esophageal carcinoma,urinary bladder urothelial carcinoma,salivary gland adenoid cystic carcinoma 26619011 ENST00000413465:c.451C>T 17 7578479 7578479 G A GRCh37 TP53 missense p.P151S head and neck squamous cell carcinoma,ovarian serous cystadenocarcinoma,colorectal cancer,breast cancer,uterine carcinosarcoma,pancreas adenocarcinoma,hepatocellular carcinoma,uterine corpus endometrial carcinoma,gastric adenocarcinoma,skin melanoma,multiple myeloma,lung squamous cell carcinoma,lung adenocarcinoma,brain glioma,esophageal carcinoma,urinary bladder urothelial carcinoma,salivary gland adenoid cystic carcinoma 26619011 ENST00000269305:c.451C>A 17 7578479 7578479 G T GRCh37 TP53 missense p.P151T head and neck squamous cell carcinoma,ovarian serous cystadenocarcinoma,colorectal cancer,breast cancer,uterine carcinosarcoma,pancreas adenocarcinoma,hepatocellular carcinoma,uterine corpus endometrial carcinoma,gastric adenocarcinoma,skin melanoma,multiple myeloma,lung squamous cell carcinoma,lung adenocarcinoma,brain glioma,esophageal carcinoma,urinary bladder urothelial carcinoma,salivary gland adenoid cystic carcinoma 26619011 ENST00000413465:c.451C>G 17 7578479 7578479 G C GRCh37 TP53 missense p.P151A head and neck squamous cell carcinoma,ovarian serous cystadenocarcinoma,colorectal cancer,breast cancer,uterine carcinosarcoma,pancreas adenocarcinoma,hepatocellular carcinoma,uterine corpus endometrial carcinoma,gastric adenocarcinoma,skin melanoma,multiple myeloma,lung squamous cell carcinoma,lung adenocarcinoma,brain glioma,esophageal carcinoma,urinary bladder urothelial carcinoma,salivary gland adenoid cystic carcinoma 26619011 ENST00000269305:c.432G>T 17 7578498 7578498 C A GRCh37 TP53 missense p.Q144H lung adenocarcinoma,head and neck squamous cell carcinoma,uterine corpus endometrial carcinoma,gastric adenocarcinoma,ovarian serous cystadenocarcinoma,hepatocellular carcinoma,breast cancer,urinary bladder urothelial carcinoma 26619011 ENST00000269305:c.431A>C 17 7578499 7578499 T G GRCh37 TP53 missense p.Q144P lung adenocarcinoma,head and neck squamous cell carcinoma,uterine corpus endometrial carcinoma,gastric adenocarcinoma,ovarian serous cystadenocarcinoma,hepatocellular carcinoma,breast cancer,urinary bladder urothelial carcinoma 26619011 ENST00000269305:c.431A>T 17 7578499 7578499 T A GRCh37 TP53 missense p.Q144L lung adenocarcinoma,head and neck squamous cell carcinoma,uterine corpus endometrial carcinoma,gastric adenocarcinoma,ovarian serous cystadenocarcinoma,hepatocellular carcinoma,breast cancer,urinary bladder urothelial carcinoma 26619011 ENST00000269305:c.423C>G 17 7578507 7578507 G C GRCh37 TP53 missense p.C141W breast cancer,prostate adenocarcinoma,colorectal cancer,lung adenocarcinoma,brain glioma,head and neck squamous cell carcinoma,uterine corpus endometrial carcinoma,pancreas adenocarcinoma,multiple myeloma,lung squamous cell carcinoma,acute myeloid leukemia,chromophobe adenocarcinoma 26619011 ENST00000269305:c.422G>A 17 7578508 7578508 C T GRCh37 TP53 missense p.C141Y breast cancer,prostate adenocarcinoma,colorectal cancer,lung adenocarcinoma,brain glioma,head and neck squamous cell carcinoma,uterine corpus endometrial carcinoma,pancreas adenocarcinoma,multiple myeloma,lung squamous cell carcinoma,acute myeloid leukemia,chromophobe adenocarcinoma 26619011 ENST00000269305:c.422G>T 17 7578508 7578508 C A GRCh37 TP53 missense p.C141F breast cancer,prostate adenocarcinoma,colorectal cancer,lung adenocarcinoma,brain glioma,head and neck squamous cell carcinoma,uterine corpus endometrial carcinoma,pancreas adenocarcinoma,multiple myeloma,lung squamous cell carcinoma,acute myeloid leukemia,chromophobe adenocarcinoma 26619011 ENST00000269305:c.421T>C 17 7578509 7578509 A G GRCh37 TP53 missense p.C141R breast cancer,prostate adenocarcinoma,colorectal cancer,lung adenocarcinoma,brain glioma,head and neck squamous cell carcinoma,uterine corpus endometrial carcinoma,pancreas adenocarcinoma,multiple myeloma,lung squamous cell carcinoma,acute myeloid leukemia,chromophobe adenocarcinoma 26619011 ENST00000269305:c.421T>G 17 7578509 7578509 A C GRCh37 TP53 missense p.C141G breast cancer,prostate adenocarcinoma,colorectal cancer,lung adenocarcinoma,brain glioma,head and neck squamous cell carcinoma,uterine corpus endometrial carcinoma,pancreas adenocarcinoma,multiple myeloma,lung squamous cell carcinoma,acute myeloid leukemia,chromophobe adenocarcinoma 26619011 ENST00000269305:c.421T>A 17 7578509 7578509 A T GRCh37 TP53 missense p.C141S breast cancer,prostate adenocarcinoma,colorectal cancer,lung adenocarcinoma,brain glioma,head and neck squamous cell carcinoma,uterine corpus endometrial carcinoma,pancreas adenocarcinoma,multiple myeloma,lung squamous cell carcinoma,acute myeloid leukemia,chromophobe adenocarcinoma 26619011 ENST00000269305:c.405C>G 17 7578525 7578525 G C GRCh37 TP53 missense p.C135W esophageal carcinoma,breast cancer,colorectal cancer,gastric adenocarcinoma,prostate adenocarcinoma,pancreas adenocarcinoma,ovarian serous cystadenocarcinoma,lung adenocarcinoma,lung squamous cell carcinoma,hepatocellular carcinoma,brain glioma,urinary bladder urothelial carcinoma,adrenocortical carcinoma 26619011 ENST00000269305:c.404G>A 17 7578526 7578526 C T GRCh37 TP53 missense p.C135Y esophageal carcinoma,breast cancer,colorectal cancer,gastric adenocarcinoma,prostate adenocarcinoma,pancreas adenocarcinoma,ovarian serous cystadenocarcinoma,lung adenocarcinoma,lung squamous cell carcinoma,hepatocellular carcinoma,brain glioma,urinary bladder urothelial carcinoma,adrenocortical carcinoma 26619011 ENST00000269305:c.404G>T 17 7578526 7578526 C A GRCh37 TP53 missense p.C135F esophageal carcinoma,breast cancer,colorectal cancer,gastric adenocarcinoma,prostate adenocarcinoma,pancreas adenocarcinoma,ovarian serous cystadenocarcinoma,lung adenocarcinoma,lung squamous cell carcinoma,hepatocellular carcinoma,brain glioma,urinary bladder urothelial carcinoma,adrenocortical carcinoma 26619011 ENST00000269305:c.403T>C 17 7578527 7578527 A G GRCh37 TP53 missense p.C135R esophageal carcinoma,breast cancer,colorectal cancer,gastric adenocarcinoma,prostate adenocarcinoma,pancreas adenocarcinoma,ovarian serous cystadenocarcinoma,lung adenocarcinoma,lung squamous cell carcinoma,hepatocellular carcinoma,brain glioma,urinary bladder urothelial carcinoma,adrenocortical carcinoma 26619011 ENST00000269305:c.403T>A 17 7578527 7578527 A T GRCh37 TP53 missense p.C135S esophageal carcinoma,breast cancer,colorectal cancer,gastric adenocarcinoma,prostate adenocarcinoma,pancreas adenocarcinoma,ovarian serous cystadenocarcinoma,lung adenocarcinoma,lung squamous cell carcinoma,hepatocellular carcinoma,brain glioma,urinary bladder urothelial carcinoma,adrenocortical carcinoma 26619011 ENST00000269305:c.403T>G 17 7578527 7578527 A C GRCh37 TP53 missense p.C135G esophageal carcinoma,breast cancer,colorectal cancer,gastric adenocarcinoma,prostate adenocarcinoma,pancreas adenocarcinoma,ovarian serous cystadenocarcinoma,lung adenocarcinoma,lung squamous cell carcinoma,hepatocellular carcinoma,brain glioma,urinary bladder urothelial carcinoma,adrenocortical carcinoma 26619011 ENST00000269305:c.396G>C 17 7578534 7578534 C G GRCh37 TP53 missense p.K132N ovarian serous cystadenocarcinoma,breast cancer,urinary bladder urothelial carcinoma,pancreas adenocarcinoma,lung adenocarcinoma,colorectal cancer,uterine carcinosarcoma,gastric adenocarcinoma,multiple myeloma,lung squamous cell carcinoma,brain glioma,head and neck squamous cell carcinoma,glioblastoma multiforme,esophageal carcinoma,cervix carcinoma,adrenocortical carcinoma 26619011 ENST00000269305:c.395A>G 17 7578535 7578535 T C GRCh37 TP53 missense p.K132R ovarian serous cystadenocarcinoma,breast cancer,urinary bladder urothelial carcinoma,pancreas adenocarcinoma,lung adenocarcinoma,colorectal cancer,uterine carcinosarcoma,gastric adenocarcinoma,multiple myeloma,lung squamous cell carcinoma,brain glioma,head and neck squamous cell carcinoma,glioblastoma multiforme,esophageal carcinoma,cervix carcinoma,adrenocortical carcinoma 26619011 ENST00000269305:c.395A>C 17 7578535 7578535 T G GRCh37 TP53 missense p.K132T ovarian serous cystadenocarcinoma,breast cancer,urinary bladder urothelial carcinoma,pancreas adenocarcinoma,lung adenocarcinoma,colorectal cancer,uterine carcinosarcoma,gastric adenocarcinoma,multiple myeloma,lung squamous cell carcinoma,brain glioma,head and neck squamous cell carcinoma,glioblastoma multiforme,esophageal carcinoma,cervix carcinoma,adrenocortical carcinoma 26619011 ENST00000269305:c.395A>T 17 7578535 7578535 T A GRCh37 TP53 missense p.K132M ovarian serous cystadenocarcinoma,breast cancer,urinary bladder urothelial carcinoma,pancreas adenocarcinoma,lung adenocarcinoma,colorectal cancer,uterine carcinosarcoma,gastric adenocarcinoma,multiple myeloma,lung squamous cell carcinoma,brain glioma,head and neck squamous cell carcinoma,glioblastoma multiforme,esophageal carcinoma,cervix carcinoma,adrenocortical carcinoma 26619011 ENST00000269305:c.394A>G 17 7578536 7578536 T C GRCh37 TP53 missense p.K132E ovarian serous cystadenocarcinoma,breast cancer,urinary bladder urothelial carcinoma,pancreas adenocarcinoma,lung adenocarcinoma,colorectal cancer,uterine carcinosarcoma,gastric adenocarcinoma,multiple myeloma,lung squamous cell carcinoma,brain glioma,head and neck squamous cell carcinoma,glioblastoma multiforme,esophageal carcinoma,cervix carcinoma,adrenocortical carcinoma 26619011 ENST00000269305:c.394A>C 17 7578536 7578536 T G GRCh37 TP53 missense p.K132Q ovarian serous cystadenocarcinoma,breast cancer,urinary bladder urothelial carcinoma,pancreas adenocarcinoma,lung adenocarcinoma,colorectal cancer,uterine carcinosarcoma,gastric adenocarcinoma,multiple myeloma,lung squamous cell carcinoma,brain glioma,head and neck squamous cell carcinoma,glioblastoma multiforme,esophageal carcinoma,cervix carcinoma,adrenocortical carcinoma 26619011 ENST00000604348:c.374C>T 17 7579313 7579313 G A GRCh37 TP53 missense p.T125M lung adenocarcinoma,head and neck squamous cell carcinoma,colorectal cancer,lung squamous cell carcinoma,gastric adenocarcinoma,ovarian serous cystadenocarcinoma,hepatocellular carcinoma,esophageal carcinoma,breast cancer,skin melanoma,pancreas adenocarcinoma,lung small cell carcinoma,brain glioma,acute myeloid leukemia,chromophobe adenocarcinoma,brain stem glioma,glioblastoma multiforme,skin squamous cell carcinoma,urinary bladder urothelial carcinoma,adrenocortical carcinoma 26619011 ENST00000413465:c.374C>G 17 7579313 7579313 G C GRCh37 TP53 missense p.T125R lung adenocarcinoma,head and neck squamous cell carcinoma,colorectal cancer,lung squamous cell carcinoma,gastric adenocarcinoma,ovarian serous cystadenocarcinoma,hepatocellular carcinoma,esophageal carcinoma,breast cancer,skin melanoma,pancreas adenocarcinoma,lung small cell carcinoma,brain glioma,acute myeloid leukemia,chromophobe adenocarcinoma,brain stem glioma,glioblastoma multiforme,skin squamous cell carcinoma,urinary bladder urothelial carcinoma,adrenocortical carcinoma 26619011 ENST00000413465:c.374C>A 17 7579313 7579313 G T GRCh37 TP53 missense p.T125K lung adenocarcinoma,head and neck squamous cell carcinoma,colorectal cancer,lung squamous cell carcinoma,gastric adenocarcinoma,ovarian serous cystadenocarcinoma,hepatocellular carcinoma,esophageal carcinoma,breast cancer,skin melanoma,pancreas adenocarcinoma,lung small cell carcinoma,brain glioma,acute myeloid leukemia,chromophobe adenocarcinoma,brain stem glioma,glioblastoma multiforme,skin squamous cell carcinoma,urinary bladder urothelial carcinoma,adrenocortical carcinoma 26619011 ENST00000413465:c.373A>C 17 7579314 7579314 T G GRCh37 TP53 missense p.T125P lung adenocarcinoma,head and neck squamous cell carcinoma,colorectal cancer,lung squamous cell carcinoma,gastric adenocarcinoma,ovarian serous cystadenocarcinoma,hepatocellular carcinoma,esophageal carcinoma,breast cancer,skin melanoma,pancreas adenocarcinoma,lung small cell carcinoma,brain glioma,acute myeloid leukemia,chromophobe adenocarcinoma,brain stem glioma,glioblastoma multiforme,skin squamous cell carcinoma,urinary bladder urothelial carcinoma,adrenocortical carcinoma 26619011 ENST00000269305:c.332T>C 17 7579355 7579355 A G GRCh37 TP53 missense p.L111P hepatocellular carcinoma,lung squamous cell carcinoma,breast cancer,gastric adenocarcinoma,skin melanoma,glioblastoma multiforme,esophageal carcinoma,chronic lymphocytic leukemia 26619011 ENST00000269305:c.332T>G 17 7579355 7579355 A C GRCh37 TP53 missense p.L111R hepatocellular carcinoma,lung squamous cell carcinoma,breast cancer,gastric adenocarcinoma,skin melanoma,glioblastoma multiforme,esophageal carcinoma,chronic lymphocytic leukemia 26619011 ENST00000269305:c.332T>A 17 7579355 7579355 A T GRCh37 TP53 missense p.L111Q hepatocellular carcinoma,lung squamous cell carcinoma,breast cancer,gastric adenocarcinoma,skin melanoma,glioblastoma multiforme,esophageal carcinoma,chronic lymphocytic leukemia 26619011 ENST00000269305:c.215C>G 17 7579472 7579472 G C GRCh37 TP53 missense p.P72R breast cancer,lung carcinoma,cervical cancer 17909070,12840112,11535556 ENST00000269305:c.139C>T 17 7579548 7579548 G A GRCh37 TP53 missense p.P47S cancer 27034505 ENST00000268766:c.589G>C 17 27062360 27062360 G C GRCh37 NEK8 missense p.A197P pancreatic cancer 20581473 ENST00000269571:c.926G>A 17 37868205 37868205 G A GRCh37 ERBB2 missense p.G309E lung adenocarcinoma 22908275 ENST00000269571:c.926G>C 17 37868205 37868205 G C GRCh37 ERBB2 missense p.G309A breast cancer 23220880 ENST00000269571:c.929C>A 17 37868208 37868208 C A GRCh37 ERBB2 missense p.S310Y cancer,urinary bladder urothelial carcinoma,gastric adenocarcinoma,cervix carcinoma,breast cancer,ovarian serous cystadenocarcinoma,skin squamous cell carcinoma,lung adenocarcinoma,head and neck squamous cell carcinoma,colorectal cancer 22908275,26619011 ENST00000269571:c.929C>T 17 37868208 37868208 C T GRCh37 ERBB2 missense p.S310F cancer,urinary bladder urothelial carcinoma,gastric adenocarcinoma,cervix carcinoma,breast cancer,ovarian serous cystadenocarcinoma,skin squamous cell carcinoma,lung adenocarcinoma,head and neck squamous cell carcinoma,colorectal cancer,colon cancer 22908275,26619011,26243863 ENST00000269571:c.2033G>A 17 37879658 37879658 G A GRCh37 ERBB2 missense p.R678Q breast cancer 23220880 ENST00000584450:c.2033G>A 17 37879658 37879658 G A GRCh37 ERBB2 missense p.R678Q gastric adenocarcinoma,uterine corpus endometrial carcinoma,prostate adenocarcinoma,colorectal cancer,breast cancer,urinary bladder urothelial carcinoma 26619011 ENST00000269571:c.2263delTTGAGGGAAAACACA 17 37880219 37880219 TTGAGGGAAAACACA - GRCh37 ERBB2 frameshift p.L755X breast cancer 23220880 ENST00000269571:c.2263T>A 17 37880219 37880219 T A GRCh37 ERBB2 missense p.L755M breast cancer,colorectal cancer,uterine corpus endometrial carcinoma,gastric adenocarcinoma,skin melanoma,papillary renal cell carcinoma,urinary bladder urothelial carcinoma 26619011 ENST00000269571:c.2263TT>CC 17 37880219 37880220 TT CC GRCh37 ERBB2 missense p.L755P breast cancer,colorectal cancer,uterine corpus endometrial carcinoma,gastric adenocarcinoma,skin melanoma,papillary renal cell carcinoma,urinary bladder urothelial carcinoma 26619011 ENST00000269571:c.2264T>C 17 37880220 37880220 T C GRCh37 ERBB2 missense p.L755S breast cancer,colorectal cancer,uterine corpus endometrial carcinoma,gastric adenocarcinoma,skin melanoma,papillary renal cell carcinoma,urinary bladder urothelial carcinoma,colon cancer 18413839,22046346,25157968,26619011,26243863,23220880 ENST00000269571:c.2264T>G 17 37880220 37880220 T G GRCh37 ERBB2 missense p.L755W breast cancer,colorectal cancer,uterine corpus endometrial carcinoma,gastric adenocarcinoma,skin melanoma,papillary renal cell carcinoma,urinary bladder urothelial carcinoma 23220880,26619011 ENST00000269571:c.2305G>C 17 37880261 37880261 G C GRCh37 ERBB2 missense p.D769H breast cancer,esophageal carcinoma,gastric adenocarcinoma,cervix carcinoma,urinary bladder urothelial carcinoma 16397024,25157968,26619011,23220880 ENST00000269571:c.2305G>T 17 37880261 37880261 G T GRCh37 ERBB2 missense p.D769Y breast cancer,esophageal carcinoma,gastric adenocarcinoma,cervix carcinoma,urinary bladder urothelial carcinoma 16397024,26619011,23220880 ENST00000269571:c.2305G>A 17 37880261 37880261 G A GRCh37 ERBB2 missense p.D769N breast cancer,esophageal carcinoma,gastric adenocarcinoma,cervix carcinoma,urinary bladder urothelial carcinoma 26619011 ENST00000269571:c.2326G>A 17 37880997 37880997 G A GRCh37 ERBB2 missense p.G776S cancer,gastric adenocarcinoma 25157968,18339846 ENST00000269571:c.2326insTGT 17 37880997 37880998 - TGT GRCh37 ERBB2 frameshift p.G776CX breast cancer 25157968 ENST00000269571:c.2329G>C 17 37881000 37881000 G C GRCh37 ERBB2 missense p.V777L breast cancer 22046346,24516025,25157968 ENST00000269571:c.2329G>T 17 37881000 37881000 G T GRCh37 ERBB2 missense p.V777L breast cancer,colorectal cancer,gastric adenocarcinoma,colon cancer 22046346,24516025,16397024,23220880,25157968,26619011,26243863 ENST00000269571:c.2329G>A 17 37881000 37881000 G A GRCh37 ERBB2 missense p.V777M colorectal cancer,breast cancer,gastric adenocarcinoma 26619011 ENST00000269571:c.2332insGGCTCCCCA 17 37881003 37881004 - GGCTCCCCA GRCh37 ERBB2 frameshift p.G778GSPX breast cancer 23220880 ENST00000269571:c.2354T>C 17 37881025 37881025 T C GRCh37 ERBB2 missense p.L785P breast cancer 25157968 ENST00000269571:c.2524G>A 17 37881332 37881332 G A GRCh37 ERBB2 missense p.V842I breast cancer,colorectal cancer,gastric adenocarcinoma,uterine corpus endometrial carcinoma,pancreas adenocarcinoma,uterine carcinosarcoma,gallbladder carcinoma,colon cancer 16397024,23220880,26619011,26243863 ENST00000269571:c.2570A>G 17 37881378 37881378 A G GRCh37 ERBB2 missense p.N857S ovary adenocarcinoma 18339846 ENST00000269571:c.2596C>A 17 37881404 37881404 C A GRCh37 ERBB2 missense p.L866M colon cancer 26243863 ENST00000269571:c.2686C>T 17 37881616 37881616 C T GRCh37 ERBB2 missense p.R896C breast cancer 16397024,23220880 ENST00000471181:c.2902insCT 17 41244645 41244646 - AG GRCh37 BRCA1 missense p.P968L breast cancer,ovarian cancer 24137399 ENST00000393331:c.399C>G 17 47696424 47696424 G C GRCh37 SPOP missense p.F133L prostate adenocarcinoma 26619011 ENST00000347630:c.398T>G 17 47696425 47696425 A C GRCh37 SPOP missense p.F133C prostate adenocarcinoma 26619011 ENST00000347630:c.398T>C 17 47696425 47696425 A G GRCh37 SPOP missense p.F133S prostate adenocarcinoma 26619011 ENST00000347630:c.397T>G 17 47696426 47696426 A C GRCh37 SPOP missense p.F133V prostate adenocarcinoma 26619011 ENST00000347630:c.397T>A 17 47696426 47696426 A T GRCh37 SPOP missense p.F133I prostate adenocarcinoma 26619011 ENST00000393331:c.393G>T 17 47696430 47696430 C A GRCh37 SPOP missense p.W131C prostate adenocarcinoma,uterine corpus endometrial carcinoma 26619011 ENST00000347630:c.392G>C 17 47696431 47696431 C G GRCh37 SPOP missense p.W131S prostate adenocarcinoma,uterine corpus endometrial carcinoma 26619011 ENST00000347630:c.391T>G 17 47696432 47696432 A C GRCh37 SPOP missense p.W131G prostate adenocarcinoma,uterine corpus endometrial carcinoma 26619011 ENST00000393331:c.391T>A 17 47696432 47696432 A T GRCh37 SPOP missense p.W131R prostate adenocarcinoma,uterine corpus endometrial carcinoma 26619011 ENST00000393331:c.306C>G 17 47696642 47696642 G C GRCh37 SPOP missense p.F102L prostate adenocarcinoma 26619011 ENST00000347630:c.305T>G 17 47696643 47696643 A C GRCh37 SPOP missense p.F102C prostate adenocarcinoma 26619011 ENST00000347630:c.304T>G 17 47696644 47696644 A C GRCh37 SPOP missense p.F102V prostate adenocarcinoma 26619011 ENST00000347630:c.260A>C 17 47696688 47696688 T G GRCh37 SPOP missense p.Y87S prostate adenocarcinoma 26619011 ENST00000347630:c.260A>G 17 47696688 47696688 T C GRCh37 SPOP missense p.Y87C prostate adenocarcinoma 26619011 ENST00000347630:c.259T>A 17 47696689 47696689 A T GRCh37 SPOP missense p.Y87N prostate adenocarcinoma 26619011 ENST00000399799:c.3577C>T 18 18535142 18535142 G A GRCh37 ROCK1 missense p.P1193S breast cancer,lung cancer 20140017 ENST00000282030:c.2608G>A 18 42531913 42531913 G A GRCh37 SETBP1 missense p.G870S chronic myeloid leukemia 23222956 ENST00000342988:c.989A>C 18 48591826 48591826 A C GRCh37 SMAD4 missense p.E330A colorectal cancer 8898652,9679244,10479724,10775259,12821112,14715079,17994767 ENST00000342988:c.1051G>A 18 48591888 48591888 G A GRCh37 SMAD4 missense p.D351N colorectal cancer 17994767,8898652,9679244,10479724,10775259,12821112,14715079 ENST00000342988:c.1051G>C 18 48591888 48591888 G C GRCh37 SMAD4 missense p.D351H colorectal cancer 8898652,9679244,10479724,10775259,12821112,14715079,17994767 ENST00000342988:c.1065C>A 18 48591902 48591902 C A GRCh37 SMAD4 missense p.D355E colorectal cancer 10775259,12821112,14715079,17994767,8898652,9679244,10479724 ENST00000342988:c.1081C>A 18 48591918 48591918 C A GRCh37 SMAD4 missense p.R361S colorectal cancer 8898652,9679244,10479724,10775259,12821112,14715079,17994767 ENST00000342988:c.1081C>T 18 48591918 48591918 C T GRCh37 SMAD4 missense p.R361C colorectal cancer,pancreas adenocarcinoma,gastric adenocarcinoma,esophageal carcinoma,cervix carcinoma,lung adenocarcinoma,head and neck squamous cell carcinoma,breast cancer 8898652,9679244,10479724,10775259,12821112,14715079,17994767,26619011 ENST00000342988:c.1081C>G 18 48591918 48591918 C G GRCh37 SMAD4 missense p.R361G colorectal cancer,pancreas adenocarcinoma,gastric adenocarcinoma,esophageal carcinoma,cervix carcinoma,lung adenocarcinoma,head and neck squamous cell carcinoma,breast cancer 26619011 ENST00000342988:c.1082G>A 18 48591919 48591919 G A GRCh37 SMAD4 missense p.R361H colorectal cancer,pancreas adenocarcinoma,gastric adenocarcinoma,esophageal carcinoma,cervix carcinoma,lung adenocarcinoma,head and neck squamous cell carcinoma,breast cancer 8898652,9679244,10479724,10775259,12821112,14715079,17994767,26619011 ENST00000342988:c.1082G>C 18 48591919 48591919 G C GRCh37 SMAD4 missense p.R361P colorectal cancer,pancreas adenocarcinoma,gastric adenocarcinoma,esophageal carcinoma,cervix carcinoma,lung adenocarcinoma,head and neck squamous cell carcinoma,breast cancer 26619011 ENST00000342988:c.1156G>A 18 48593405 48593405 G A GRCh37 SMAD4 missense p.G386S esophageal carcinoma,colorectal cancer,gastric adenocarcinoma,prostate adenocarcinoma,pancreas adenocarcinoma,lung adenocarcinoma 26619011 ENST00000342988:c.1156G>T 18 48593405 48593405 G T GRCh37 SMAD4 missense p.G386C esophageal carcinoma,colorectal cancer,gastric adenocarcinoma,prostate adenocarcinoma,pancreas adenocarcinoma,lung adenocarcinoma 26619011 ENST00000342988:c.1157G>A 18 48593406 48593406 G A GRCh37 SMAD4 missense p.G386D esophageal carcinoma,colorectal cancer,gastric adenocarcinoma,prostate adenocarcinoma,pancreas adenocarcinoma,lung adenocarcinoma 26619011 ENST00000342988:c.1157G>T 18 48593406 48593406 G T GRCh37 SMAD4 missense p.G386V esophageal carcinoma,colorectal cancer,gastric adenocarcinoma,prostate adenocarcinoma,pancreas adenocarcinoma,lung adenocarcinoma 26619011 ENST00000342988:c.1157G>C 18 48593406 48593406 G C GRCh37 SMAD4 missense p.G386A esophageal carcinoma,colorectal cancer,gastric adenocarcinoma,prostate adenocarcinoma,pancreas adenocarcinoma,lung adenocarcinoma 26619011 ENST00000342988:c.1609G>T 18 48604787 48604787 G T GRCh37 SMAD4 missense p.D537Y colorectal cancer 8898652,9679244,10479724,10775259,12821112,14715079,17994767 ENST00000326873:c.109C>T 19 1207021 1207021 C T GRCh37 STK11 stop_lost p.Q37* cancer 25157968 ENST00000326873:c.200T>C 19 1207112 1207112 T C GRCh37 STK11 missense p.L67P Peutz-Jeghers syndrome 9837816 ENST00000585851:c.256C>G 19 1207168 1207168 C G GRCh37 STK11 missense p.R86G lung squamous cell carcinoma 17676035 ENST00000326873:c.323A>G 19 1218448 1218448 A G GRCh37 STK11 missense p.K108R Peutz-Jeghers syndrome 10353780 ENST00000326873:c.368A>G 19 1218493 1218493 A G GRCh37 STK11 missense p.Q123R lung squamous cell carcinoma 17676035 ENST00000326873:c.487G>T 19 1220394 1220394 G T GRCh37 STK11 missense p.G163C lung squamous cell carcinoma 17676035 ENST00000326873:c.508C>T 19 1220415 1220415 C T GRCh37 STK11 stop_lost p.Q170* cancer 25157968 ENST00000326873:c.526G>A 19 1220433 1220433 G A GRCh37 STK11 missense p.D176N Peutz-Jeghers syndrome 9837816 ENST00000326873:c.530T>A 19 1220437 1220437 T A GRCh37 STK11 missense p.I177N Peutz-Jeghers syndrome 12552571 ENST00000326873:c.580G>A 19 1220487 1220487 G A GRCh37 STK11 missense p.D194N cancer,lung adenocarcinoma 25157968,17676035 ENST00000326873:c.580G>T 19 1220487 1220487 G T GRCh37 STK11 missense p.D194Y melanoma 10208439 ENST00000326873:c.581A>T 19 1220488 1220488 A T GRCh37 STK11 missense p.D194V cancer 25157968 ENST00000326873:c.582C>A 19 1220489 1220489 C A GRCh37 STK11 missense p.D194E pancreatic cancer 21189378 ENST00000326873:c.582C>G 19 1220489 1220489 C G GRCh37 STK11 missense p.D194E pancreatic cancer 21189378 ENST00000326873:c.587G>T 19 1220494 1220494 G T GRCh37 STK11 missense p.G196V non-small cell lung carcinoma 25157968 ENST00000326873:c.595G>A 19 1220502 1220502 G A GRCh37 STK11 missense p.E199K cancer 25157968 ENST00000326873:c.595G>T 19 1220502 1220502 G T GRCh37 STK11 stop_lost p.E199* cancer 25157968 ENST00000326873:c.644G>A 19 1220626 1220626 G A GRCh37 STK11 missense p.G215D Peutz-Jeghers syndrome 21816872 ENST00000326873:c.647C>T 19 1220629 1220629 C T GRCh37 STK11 missense p.S216F lung adenocarcinoma 17676035 ENST00000326873:c.717G>C 19 1220699 1220699 G C GRCh37 STK11 missense p.W239C Peutz-Jeghers syndrome 12372054 ENST00000326873:c.842C>T 19 1221319 1221319 C T GRCh37 STK11 missense p.P281L cancer 25157968 ENST00000326873:c.910C>T 19 1221995 1221995 C T GRCh37 STK11 missense p.R304W Peutz-Jeghers syndrome 12552571 ENST00000326873:c.924G>C 19 1222987 1222987 G C GRCh37 STK11 missense p.W308C Peutz-Jeghers syndrome 9837816 ENST00000326873:c.971C>T 19 1223034 1223034 C T GRCh37 STK11 missense p.P324L Peutz-Jeghers syndrome 15800014 ENST00000326873:c.996G>A 19 1223059 1223059 G A GRCh37 STK11 stop_lost p.W332* cancer 25157968 ENST00000326873:c.1060T>C 19 1223123 1223123 T C GRCh37 STK11 missense p.F354L lung squamous cell carcinoma 15800014 ENST00000326873:c.1088C>T 19 1223151 1223151 C T GRCh37 STK11 missense p.T363I Peutz-Jeghers syndrome 22942091 ENST00000078429:c.626A>T 19 3118942 3118942 A T GRCh37 GNA11 missense p.Q209L uveal melanoma,melanoma,skin melanoma 21444680,24141786,1328859,2549426,21083380,22733540,22808163,25157968,26619011 ENST00000078429:c.626A>C 19 3118942 3118942 A C GRCh37 GNA11 missense p.Q209P melanoma,uveal melanoma 1328859,2549426,21083380,22733540,22808163,25157968 ENST00000262948:c.376A>G 19 4110581 4110581 T C GRCh37 MAP2K2 missense p.N126D melanoma 24265153 ENST00000262948:c.373T>A 19 4110584 4110584 A T GRCh37 MAP2K2 missense p.C125S melanoma 24265153 ENST00000262948:c.179A>C 19 4117541 4117541 T G GRCh37 MAP2K2 missense p.Q60P melanoma 24265154 ENST00000262948:c.171T>G 19 4117549 4117549 A C GRCh37 MAP2K2 missense p.F57L skin melanoma,gastric adenocarcinoma,pancreas adenocarcinoma,head and neck squamous cell carcinoma 26619011 ENST00000262948:c.169T>G 19 4117551 4117551 A C GRCh37 MAP2K2 missense p.F57V skin melanoma,gastric adenocarcinoma,pancreas adenocarcinoma,head and neck squamous cell carcinoma 26619011 ENST00000262948:c.136C>T 19 4117584 4117584 G A GRCh37 MAP2K2 missense p.L46F melanoma 24265153 ENST00000262948:c.103G>A 19 4117617 4117617 C T GRCh37 MAP2K2 missense p.V35M melanoma 24265153 ENST00000458235:c.2164G>A 19 17945696 17945696 C T GRCh37 JAK3 missense p.V722I acute lymphocytic leukemia,megakaryocytic leukemia 25157968,16843266 ENST00000458235:c.2143G>A 19 17945717 17945717 C T GRCh37 JAK3 missense p.V715I severe combined immunodeficiency 18559588 ENST00000458235:c.1970G>A 19 17945969 17945969 C T GRCh37 JAK3 missense p.R657Q megakaryocytic leukemia,leukemoid reaction 18397343 ENST00000458235:c.1715C>T 19 17948009 17948009 G A GRCh37 JAK3 missense p.A572V chronic myeloproliferative disease,megakaryocytic leukemia 20372971,20385788,22271575,25157968,16843266 ENST00000458235:c.1503G>T 19 17949138 17949138 C A GRCh37 JAK3 missense p.Q501H megakaryocytic leukemia,leukemoid reaction 18397343 ENST00000458235:c.1503G>C 19 17949138 17949138 C G GRCh37 JAK3 missense p.Q501H megakaryocytic leukemia 18397343 ENST00000458235:c.394C>A 19 17954215 17954215 G T GRCh37 JAK3 missense p.P132T acute lymphocytic leukemia 20372971,25157968 ENST00000534444:c.394C>A 19 17954215 17954215 G T GRCh37 JAK3 missense p.P132T megakaryocytic leukemia 16843266 ENST00000458235:c.260T>C 19 17954634 17954634 A G GRCh37 JAK3 missense p.I87T megakaryocytic leukemia 18397343 ENST00000534444:c.260T>C 19 17954634 17954634 A G GRCh37 JAK3 missense p.I87T leukemoid reaction 18397343 ENST00000222254:c.1681A>G 19 18278061 18278061 A G GRCh37 PIK3R2 missense p.N561D endometrial adenocarcinoma 21984976 ENST00000392038:c.1112G>A 19 40741860 40741860 C T GRCh37 AKT2 missense p.R371H non-small cell lung carcinoma 21479466,25157968 ENST00000392038:c.904A>G 19 40742220 40742220 T C GRCh37 AKT2 missense p.S302G colorectal cancer 16094359,25157968 ENST00000262887:c.580C>T 19 44057574 44057574 G A GRCh37 XRCC1 missense p.R194W non-small cell lung carcinoma 19157633 ENST00000391945:c.2251A>C 19 45854919 45854919 T G GRCh37 ERCC2 missense p.K751Q non-small cell lung carcinoma,osteosarcoma 19470925,19434073 ENST00000246784:c.52C>T 19 50169132 50169132 C T GRCh37 BCL2L12 missense p.R18W skin melanoma,skin squamous cell carcinoma 26619011 ENST00000322088:c.536C>G 19 52715971 52715971 C G GRCh37 PPP2R1A missense p.P179R uterine corpus endometrial carcinoma,uterine carcinosarcoma 26619011 ENST00000322088:c.536C>T 19 52715971 52715971 C T GRCh37 PPP2R1A missense p.P179L uterine corpus endometrial carcinoma,uterine carcinosarcoma 26619011 ENST00000322088:c.547C>T 19 52715982 52715982 C T GRCh37 PPP2R1A missense p.R183W colorectal cancer,uterine carcinosarcoma,ovarian serous cystadenocarcinoma,uterine corpus endometrial carcinoma,lung adenocarcinoma,gastric adenocarcinoma,prostate adenocarcinoma,head and neck squamous cell carcinoma,breast cancer 26619011 ENST00000322088:c.547C>G 19 52715982 52715982 C G GRCh37 PPP2R1A missense p.R183G colorectal cancer,uterine carcinosarcoma,ovarian serous cystadenocarcinoma,uterine corpus endometrial carcinoma,lung adenocarcinoma,gastric adenocarcinoma,prostate adenocarcinoma,head and neck squamous cell carcinoma,breast cancer 26619011 ENST00000322088:c.548G>A 19 52715983 52715983 G A GRCh37 PPP2R1A missense p.R183Q colorectal cancer,uterine carcinosarcoma,ovarian serous cystadenocarcinoma,uterine corpus endometrial carcinoma,lung adenocarcinoma,gastric adenocarcinoma,prostate adenocarcinoma,head and neck squamous cell carcinoma,breast cancer 26619011 ENST00000377340:c.383C>T 20 20033087 20033087 G A GRCh37 CRNKL1 missense p.S128F skin melanoma,skin squamous cell carcinoma 26619011 ENST00000360723:c.1609C>T 20 36031762 36031762 C T GRCh37 SRC stop_lost p.Q537* cancer 25157968 ENST00000354359:c.604C>T 20 57484420 57484420 C T GRCh37 GNAS missense p.R202C cancer 21835143,25157968 ENST00000371100:c.2530C>T 20 57484420 57484420 C T GRCh37 GNAS missense p.R844C pancreas adenocarcinoma,colorectal cancer,gastric adenocarcinoma,lung adenocarcinoma,hepatocellular carcinoma,breast cancer,skin melanoma,head and neck squamous cell carcinoma,cervix carcinoma,adrenocortical carcinoma 26619011 ENST00000371085:c.601C>T 20 57484420 57484420 C T GRCh37 GNAS missense p.R201C pancreas adenocarcinoma,colorectal cancer,gastric adenocarcinoma,lung adenocarcinoma,hepatocellular carcinoma,breast cancer,skin melanoma,head and neck squamous cell carcinoma,cervix carcinoma,adrenocortical carcinoma 26619011 ENST00000354359:c.605G>A 20 57484421 57484421 G A GRCh37 GNAS missense p.R202H cancer 21835143,25157968 ENST00000354359:c.605G>T 20 57484421 57484421 G T GRCh37 GNAS missense p.R202L cancer 21835143 ENST00000371100:c.2531G>A 20 57484421 57484421 G A GRCh37 GNAS missense p.R844H pancreas adenocarcinoma,colorectal cancer,gastric adenocarcinoma,lung adenocarcinoma,hepatocellular carcinoma,breast cancer,skin melanoma,head and neck squamous cell carcinoma,cervix carcinoma,adrenocortical carcinoma 26619011 ENST00000371085:c.602G>A 20 57484421 57484421 G A GRCh37 GNAS missense p.R201H pancreas adenocarcinoma,colorectal cancer,gastric adenocarcinoma,lung adenocarcinoma,hepatocellular carcinoma,breast cancer,skin melanoma,head and neck squamous cell carcinoma,cervix carcinoma,adrenocortical carcinoma 26619011 ENST00000371100:c.2531G>T 20 57484421 57484421 G T GRCh37 GNAS missense p.R844L pancreas adenocarcinoma,colorectal cancer,gastric adenocarcinoma,lung adenocarcinoma,hepatocellular carcinoma,breast cancer,skin melanoma,head and neck squamous cell carcinoma,cervix carcinoma,adrenocortical carcinoma 26619011 ENST00000354359:c.683A>T 20 57484596 57484596 A T GRCh37 GNAS missense p.Q228L cancer 25157968 ENST00000300305:c.601C>T 21 36231783 36231783 G A GRCh37 RUNX1 stop_lost p.R201* acute myeloid leukemia 10508512 ENST00000300305:c.486G>T 21 36252876 36252876 C A GRCh37 RUNX1 missense p.R162S acute myeloid leukemia 24374719,24616160,24659740 ENST00000300305:c.486G>C 21 36252876 36252876 C G GRCh37 RUNX1 missense p.R162S acute myeloid leukemia 24374719,24616160,24659740 ENST00000300305:c.485G>A 21 36252877 36252877 C T GRCh37 RUNX1 missense p.R162K acute myeloid leukemia 19357396,24659740 ENST00000300305:c.484A>G 21 36252878 36252878 T C GRCh37 RUNX1 missense p.R162G acute myeloid leukemia 19357396,24659740 ENST00000360214:c.1023A>G 21 40191638 40191638 A G GRCh37 ETS2 synonymous p.P341 non-small cell lung carcinoma 26893365 ENST00000291552:c.470A>G 21 44514777 44514777 T C GRCh37 U2AF1 missense p.Q157R acute myeloid leukemia 22158538 ENST00000291552:c.470A>C 21 44514777 44514777 T G GRCh37 U2AF1 missense p.Q157P acute myeloid leukemia,myelodysplastic syndrome 22158538,23861105,23029227 ENST00000380276:c.470A>G 21 44514777 44514777 T C GRCh37 U2AF1 missense p.Q157R myelodysplastic syndrome,acute myeloid leukemia 26619011 ENST00000380276:c.470A>C 21 44514777 44514777 T G GRCh37 U2AF1 missense p.Q157P myelodysplastic syndrome,acute myeloid leukemia 26619011 ENST00000291552:c.101C>T 21 44524456 44524456 G A GRCh37 U2AF1 missense p.S34F acute myeloid leukemia,myelodysplastic syndrome,lung adenocarcinoma,pancreas adenocarcinoma,uterine carcinosarcoma,uterine corpus endometrial carcinoma,cervix carcinoma,urinary bladder urothelial carcinoma,head and neck squamous cell carcinoma 22158538,24498085,23861105,26619011,23029227 ENST00000291552:c.101C>A 21 44524456 44524456 G T GRCh37 U2AF1 missense p.S34Y acute myeloid leukemia,lung adenocarcinoma,pancreas adenocarcinoma,uterine carcinosarcoma,uterine corpus endometrial carcinoma,cervix carcinoma,urinary bladder urothelial carcinoma,myelodysplastic syndrome,head and neck squamous cell carcinoma 22158538,24498085,26619011 ENST00000215832:c.964G>A 22 22127164 22127164 C T GRCh37 MAPK1 missense p.E322K head and neck squamous cell carcinoma,cervix carcinoma,urinary bladder urothelial carcinoma 26619011 ENST00000382580:c.1312G>T 22 29091774 29091774 C A GRCh37 CHEK2 missense p.V438F breast cancer 17721994 ENST00000382580:c.1169A>C 22 29092944 29092944 T G GRCh37 CHEK2 missense p.D390A breast cancer 22114986 ENST00000263253:c.4195G>A 22 41565529 41565529 G A GRCh37 EP300 missense p.D1399N head and neck squamous cell carcinoma,cervix carcinoma,lung squamous cell carcinoma,esophageal carcinoma,urinary bladder urothelial carcinoma,medulloblastoma 26619011 ENST00000263253:c.4195G>T 22 41565529 41565529 G T GRCh37 EP300 missense p.D1399Y head and neck squamous cell carcinoma,cervix carcinoma,lung squamous cell carcinoma,esophageal carcinoma,urinary bladder urothelial carcinoma,medulloblastoma 26619011 ENST00000381567:c.695T>G X 1314966 1314966 A C GRCh37 CRLF2 missense p.F232C acute lymphocytic leukemia 19965641,19907440,20018760,22368272 ENST00000377045:c.640T>G X 47426120 47426120 T G GRCh37 ARAF missense p.S214A lung adenocarcinoma,skin melanoma,papillary renal cell carcinoma 26619011 ENST00000377045:c.641C>G X 47426121 47426121 C G GRCh37 ARAF missense p.S214C lung adenocarcinoma,skin melanoma,papillary renal cell carcinoma,non-small cell lung carcinoma 24569458,26619011 ENST00000377045:c.641C>T X 47426121 47426121 C T GRCh37 ARAF missense p.S214F lung adenocarcinoma,skin melanoma,papillary renal cell carcinoma 26619011 ENST00000374690:c.2629T>C X 66943549 66943549 T C GRCh37 AR missense p.F877L prostate cancer 23779130 ENST00000333646:c.3670C>T X 70349258 70349258 C T GRCh37 MED12 missense p.L1224F prostate adenocarcinoma,gastric adenocarcinoma,pancreas adenocarcinoma,lung squamous cell carcinoma,breast cancer 26619011 ENST00000333646:c.3670C>G X 70349258 70349258 C G GRCh37 MED12 missense p.L1224V prostate adenocarcinoma,gastric adenocarcinoma,pancreas adenocarcinoma,lung squamous cell carcinoma,breast cancer 26619011 ENST00000308731:c.1442G>C X 100611164 100611164 C G GRCh37 BTK missense p.C481S breast cancer 24869598 ENST00000308731:c.1441T>A X 100611165 100611165 A T GRCh37 BTK missense p.C481S breast cancer,chronic lymphocytic leukemia 24869598 ENST00000372880:c.121G>A X 100630152 100630152 C T GRCh37 BTK missense p.E41K agammaglobulinemia 10352268