Chromosome Start_position End_position Reference Variant Reference_version Gene Amino_acid_substitution Diseases Pubmed_sources PON-P2_predicted_probability_of_harmfulness 1 11169361 11169361 C G GRCh37 MTOR p.R2505P [renal carcinoma] [24631838] 0.885 1 11174420 11174420 C T GRCh37 MTOR p.E2419K [bladder transitional cell carcinoma] [24625776] 0.837 1 11182179 11182179 G T GRCh37 MTOR p.Q2223K [renal carcinoma] [24622468] 0.778 1 11184573 11184573 G T GRCh37 MTOR p.S2215Y [renal carcinoma] [24631838] 0.676 1 11187857 11187857 C T GRCh37 MTOR p.E2014K [bladder transitional cell carcinoma] [24625776] 0.843 1 11217299 11217299 A G GRCh37 MTOR p.L1460P [renal carcinoma] [24631838] 0.897 1 16464489 16464489 C G GRCh37 EPHA2 p.G391R [lung squamous cell carcinoma] [20360610] 0.462 1 36933434 36933434 G A GRCh37 CSF3R p.T618I [chronic myeloid leukemia NA 0.737 1 36933444 36933444 T C GRCh37 CSF3R p.T615A [chronic myeloid leukemia] [23656643] 0.316 1 43815009 43815009 G T GRCh37 MPL p.W515L [hematologic cancer] [16834459] 0.198 1 65312382 65312382 G A GRCh37 JAK1 p.S646F [lymphoblastic leukemia] [22955920] 0.622 1 115256528 115256528 T A GRCh37 NRAS p.Q61H [melanoma NA 0.614 1 115256529 115256529 T A GRCh37 NRAS p.Q61L [non-small cell lung carcinoma NA 0.617 1 115256529 115256529 T C GRCh37 NRAS p.Q61R [thyroid cancer NA 0.762 1 115256529 115256529 T G GRCh37 NRAS p.Q61P [non-small cell lung carcinoma NA 0.714 1 115256530 115256530 G C GRCh37 NRAS p.Q61E [melanoma] [8120410 0.621 1 115256530 115256530 G T GRCh37 NRAS p.Q61K [thyroid cancer NA 0.386 1 115258744 115258744 C A GRCh37 NRAS p.G13V [melanoma NA 0.942 1 115258744 115258744 C G GRCh37 NRAS p.G13A [melanoma] [8120410 0.708 1 115258744 115258744 C T GRCh37 NRAS p.G13D [melanoma NA 0.966 1 115258745 115258745 C A GRCh37 NRAS p.G13C [melanoma] [8120410 0.9 1 115258745 115258745 C G GRCh37 NRAS p.G13R [melanoma] [8120410 0.952 1 115258747 115258747 C A GRCh37 NRAS p.G12V [melanoma NA 0.942 1 115258747 115258747 C G GRCh37 NRAS p.G12A [non-small cell lung carcinoma NA 0.708 6 152332832 152332832 G C GRCh37 ESR1 p.E380Q [breast cancer] [24398047 0.883 1 115258747 115258747 C T GRCh37 NRAS p.G12D [non-small cell lung carcinoma NA 0.966 1 115258748 115258748 C A GRCh37 NRAS p.G12C [non-small cell lung carcinoma NA 0.9 1 115258748 115258748 C G GRCh37 NRAS p.G12R [non-small cell lung carcinoma NA 0.952 1 115258748 115258748 C T GRCh37 NRAS p.G12S [non-small cell lung carcinoma NA 0.878 1 162724415 162724415 C G GRCh37 DDR2 p.L63V [lung squamous cell carcinoma] [22328973] 0.785 1 162729630 162729630 T G GRCh37 DDR2 p.L239R [lung squamous cell carcinoma] [22328973] 0.973 1 162729671 162729671 G T GRCh37 DDR2 p.G253C [lung squamous cell carcinoma] [22328973] 0.919 1 162741822 162741822 G A GRCh37 DDR2 p.G505S [lung squamous cell carcinoma] [22328973] 0.377 1 162745497 162745497 A T GRCh37 DDR2 p.I638F [lung squamous cell carcinoma] [22328973] 0.81 1 162748390 162748390 T A GRCh37 DDR2 p.S768R [squamous cell carcinoma] [23932362 0.594 1 162748407 162748407 G T GRCh37 DDR2 p.G774V [lung squamous cell carcinoma] [22328973] 0.921 2 25457242 25457242 C A GRCh37 DNMT3A p.R882L [acute myeloid leukemia] [22160010 0.717 2 25457242 25457242 C G GRCh37 DNMT3A p.R882P [acute myeloid leukemia] [21067377 0.867 2 25457242 25457242 C T GRCh37 DNMT3A p.R882H [acute myeloid leukemia] [21067377 0.498 2 25457243 25457243 G A GRCh37 DNMT3A p.R882C [acute myeloid leukemia] [21067377 0.877 2 25457243 25457243 G C GRCh37 DNMT3A p.R882G [acute myeloid leukemia] [22160010 0.643 2 25457243 25457243 G T GRCh37 DNMT3A p.R882S [acute myeloid leukemia] [21067377 0.793 2 29432655 29432655 T G GRCh37 ALK p.Y1278S [neuroblastoma] [22072639 0.628 2 29432664 29432664 C T GRCh37 ALK p.R1275Q [neuroblastoma NA 0.949 2 29432682 29432682 C G GRCh37 ALK p.G1269A [lung adenocarcinoma] [22277784 0.892 2 29436858 29436858 G C GRCh37 ALK p.F1245L [neuroblastoma] [22072639 0.844 2 29436859 29436859 A C GRCh37 ALK p.F1245C [neuroblastoma] [21838707 0.92 2 29436860 29436860 A C GRCh37 ALK p.F1245V [neuroblastoma] [22072639 0.903 2 29436920 29436920 C T GRCh37 ALK p.D1225N [rhabdomyosarcoma] [22184391] 0.945 2 29443600 29443600 G T GRCh37 ALK p.S1206Y [lung adenocarcinoma] [22277784 0.734 2 29443613 29443613 C T GRCh37 ALK p.G1202R [lung adenocarcinoma] [22277784] 0.948 2 29443631 29443631 G T GRCh37 ALK p.L1196M [lung adenocarcinoma] [22277784 0.759 2 29443642 29443642 C G GRCh37 ALK p.R1192P [brain cancer] [22072639] 0.939 2 29443695 29443695 G C GRCh37 ALK p.F1174L [lung adenocarcinoma] [22277784 0.853 2 29443696 29443696 A C GRCh37 ALK p.F1174C [neuroblastoma] [22072639 0.918 2 29443697 29443697 A C GRCh37 ALK p.F1174V [neuroblastoma] [22072639 0.903 2 29443697 29443697 A T GRCh37 ALK p.F1174I [neuroblastoma] [22072639 0.923 2 29445213 29445213 A T GRCh37 ALK p.I1171N [neuroblastoma] [21838707 0.919 2 29445270 29445270 A C GRCh37 ALK p.L1152R [lung adenocarcinoma] [22277784] 0.968 2 29445273 29445273 G A GRCh37 ALK p.T1151M [neuroblastoma] [22072639 0.928 2 29445450 29445450 C G GRCh37 ALK p.G1128A [brain cancer] [22072639] 0.895 2 29446296 29446296 C T GRCh37 ALK p.D1091N [neuroblastoma] [22072639 0.763 2 198266832 198266832 T A GRCh37 SF3B1 p.K700N [acute myeloid leukemia] [23395771] 0.555 2 198266833 198266833 T A GRCh37 SF3B1 p.K700I [acute myeloid leukemia] [23395771] 0.871 2 198266833 198266833 T C GRCh37 SF3B1 p.K700R [acute myeloid leukemia] [23395771] 0.46 2 198266833 198266833 T G GRCh37 SF3B1 p.K700T [acute myeloid leukemia] [23395771] 0.666 2 198266834 198266834 T C GRCh37 SF3B1 p.K700E [acute myeloid leukemia] [23395771] 0.755 2 198266834 198266834 T G GRCh37 SF3B1 p.K700Q [acute myeloid leukemia] [23395771] 0.787 2 198267359 198267359 C A GRCh37 SF3B1 p.K666N [acute myeloid leukemia] [23395771] 0.646 2 198267360 198267360 T C GRCh37 SF3B1 p.K666R [acute myeloid leukemia] [23634996] 0.785 2 198267360 198267360 T G GRCh37 SF3B1 p.K666T [acute myeloid leukemia] [23634996] 0.762 2 198267361 198267361 T C GRCh37 SF3B1 p.K666E [acute myeloid leukemia] [23634996] 0.797 2 209113112 209113112 C A GRCh37 IDH1 p.R132L [acute myeloid leukemia] [22160010 0.964 2 209113112 209113112 C G GRCh37 IDH1 p.R132P [acute myeloid leukemia] [22160010 0.908 2 209113112 209113112 C T GRCh37 IDH1 p.R132H [brain cancer NA 0.932 2 209113113 209113113 G A GRCh37 IDH1 p.R132C [acute myeloid leukemia] [19657110 0.974 2 209113113 209113113 G C GRCh37 IDH1 p.R132G [acute myeloid leukemia] [22160010 0.942 2 209113113 209113113 G T GRCh37 IDH1 p.R132S [acute myeloid leukemia] [19657110 0.939 2 212295699 212295699 C T GRCh37 ERBB4 p.E872K [melanoma] [19718025] 0.904 2 212537975 212537975 G A GRCh37 ERBB4 p.R544W [melanoma] [19718025] 0.936 2 212537981 212537981 C T GRCh37 ERBB4 p.E542K [melanoma] [19718025] 0.902 2 212566827 212566827 C T GRCh37 ERBB4 p.E452K [melanoma] [19718025] 0.715 2 212570064 212570064 G A GRCh37 ERBB4 p.R393W [melanoma] [19718025] 0.733 2 212578308 212578308 C T GRCh37 ERBB4 p.E317K [melanoma] [19718025] 0.657 3 12641195 12641195 C G GRCh37 RAF1 p.W388S [melanoma] [23737487] 0.869 3 12645700 12645700 A G GRCh37 RAF1 p.S257P [melanoma] [23737487] 0.866 3 38182641 38182641 T C GRCh37 MYD88 p.L273P [lymphoma] [21179087] 0.911 3 41266113 41266113 C A GRCh37 CTNNB1 p.S37Y [melanoma] [11950921 0.956 3 41266113 41266113 C T GRCh37 CTNNB1 p.S37F [melanoma] [11950921 0.943 3 41266136 41266136 T C GRCh37 CTNNB1 p.S45P [melanoma] [11950921 0.897 3 41266137 41266137 C A GRCh37 CTNNB1 p.S45Y [melanoma] [11950921 0.956 3 41266137 41266137 C T GRCh37 CTNNB1 p.S45F [melanoma] [11950921 0.943 3 128200113 128200113 G A GRCh37 GATA2 p.R398W [acute myeloid leukemia] [22147895 0.982 3 128200744 128200744 G A GRCh37 GATA2 p.T354M [acute myeloid leukemia] [22147895 0.914 3 178936082 178936082 G A GRCh37 PIK3CA p.E542K [ovarian cancer NA 0.739 3 178936091 178936091 G A GRCh37 PIK3CA p.E545K [ovarian cancer NA 0.922 3 178936091 178936091 G C GRCh37 PIK3CA p.E545Q [non-small cell lung carcinoma NA 0.82 3 178936092 178936092 A C GRCh37 PIK3CA p.E545A [ovarian cancer NA 0.864 3 178936092 178936092 A G GRCh37 PIK3CA p.E545G [colorectal cancer NA 0.876 3 178936092 178936092 A T GRCh37 PIK3CA p.E545V [colorectal cancer NA 0.843 3 178936094 178936094 C A GRCh37 PIK3CA p.Q546K [ovarian cancer NA 0.634 3 178936094 178936094 C G GRCh37 PIK3CA p.Q546E [colorectal cancer NA 0.684 3 178936095 178936095 A C GRCh37 PIK3CA p.Q546P [colorectal cancer NA 0.775 3 178936095 178936095 A G GRCh37 PIK3CA p.Q546R [colorectal cancer NA 0.825 9 5073770 5073770 G T GRCh37 JAK2 p.V617F [myelofibrosis NA 0.865 3 178936095 178936095 A T GRCh37 PIK3CA p.Q546L [breast cancer] [20453058 0.839 3 178936103 178936103 G A GRCh37 PIK3CA p.D549N [colorectal cancer NA 0.647 3 178952085 178952085 A G GRCh37 PIK3CA p.H1047R [ovarian cancer NA 0.802 3 178952085 178952085 A T GRCh37 PIK3CA p.H1047L [ovarian cancer NA 0.695 4 1806099 1806099 A G GRCh37 FGFR3 p.Y375C [myeloma] [19331127 0.919 4 1807488 1807488 G A GRCh37 FGFR3 p.V555M [myeloma] [22869148] 0.898 4 55141036 55141036 T A GRCh37 PDGFRA p.V561D [gastrointestinal stromal tumor] [14645423 0.92 4 55141083 55141083 C T GRCh37 PDGFRA p.P577S [melanoma] [24132921] 0.947 4 55144144 55144144 T C GRCh37 PDGFRA p.V658A [melanoma] [24132921] 0.524 4 55144148 55144148 C A GRCh37 PDGFRA p.N659K [gastrointestinal stromal tumor] [14645423 0.482 4 55152090 55152090 G A GRCh37 PDGFRA p.R841K [melanoma] [24132921] 0.286 4 55152093 55152093 A T GRCh37 PDGFRA p.D842V [gastrointestinal stromal tumor] [14645423 0.262 4 55152101 55152101 C T GRCh37 PDGFRA p.H845Y [melanoma] [24132921] 0.211 4 55152126 55152126 G A GRCh37 PDGFRA p.G853D [melanoma] [24132921] 0.154 4 55592144 55592144 G A GRCh37 KIT p.E490K [thymic carcinoma] [22357254 0.76 4 55592186 55592186 T C GRCh37 KIT p.F504L [melanoma] [21131919] 0.726 4 55593584 55593584 A C GRCh37 KIT p.K550N [melanoma] [24661573 0.691 4 55593591 55593591 T A GRCh37 KIT p.Y553N [thymic carcinoma NA 0.9 4 55593603 55593603 T A GRCh37 KIT p.W557R [melanoma] [15790786 0.906 4 55593608 55593608 G C GRCh37 KIT p.K558N [melanoma] [22160160] 0.694 4 55593609 55593609 G A GRCh37 KIT p.V559I [gastrointestinal stromal tumor] [23582185 0.812 4 55593610 55593610 T A GRCh37 KIT p.V559D [melanoma NA 0.914 4 55593610 55593610 T C GRCh37 KIT p.V559A [thymic carcinoma NA 0.914 4 55593610 55593610 T G GRCh37 KIT p.V559G [melanoma] [24661573 0.581 4 55593613 55593613 T A GRCh37 KIT p.V560D [melanoma] [18936790] 0.884 4 55593613 55593613 T C GRCh37 KIT p.V560A [melanoma] [18936790] 0.815 4 55593613 55593613 T G GRCh37 KIT p.V560G [melanoma] [18936790] 0.698 4 55593630 55593630 A G GRCh37 KIT p.N566D [melanoma] [24661573 0.722 4 55593640 55593640 T G GRCh37 KIT p.V569G [melanoma] [24661573 0.543 4 55593661 55593661 T C GRCh37 KIT p.L576P [thymic carcinoma NA 0.966 4 55594221 55594221 A G GRCh37 KIT p.K642E [melanoma] [15790786 0.929 4 55594258 55594258 T A GRCh37 KIT p.V654E [melanoma] [22932406] 0.803 4 55594258 55594258 T C GRCh37 KIT p.V654A [melanoma NA 0.893 4 55594261 55594261 A G GRCh37 KIT p.N655S [melanoma] [24661573 0.855 4 55594262 55594262 T A GRCh37 KIT p.N655K [melanoma] [24661573 0.876 4 55595519 55595519 C T GRCh37 KIT p.T670I [gastrointestinal stromal tumor] [24687822 0.928 4 55595599 55595599 C T GRCh37 KIT p.H697Y [thymic carcinoma] [19861435] 0.533 4 55599320 55599320 G C GRCh37 KIT p.D816H [melanoma NA 0.915 4 55599320 55599320 G T GRCh37 KIT p.D816Y [melanoma NA 0.912 4 55599321 55599321 A T GRCh37 KIT p.D816V [gastrointestinal stromal tumor NA 0.902 4 55599332 55599332 G C GRCh37 KIT p.D820H [melanoma] [15790786 0.915 4 55599332 55599332 G T GRCh37 KIT p.D820Y [melanoma] [20088873 0.912 4 55599333 55599333 A T GRCh37 KIT p.D820V [systemic mastocytosis] [18559612] 0.902 4 55599334 55599334 T A GRCh37 KIT p.D820E [thymic carcinoma] [19461405 0.798 4 55599339 55599339 A T GRCh37 KIT p.N822I [melanoma NA 0.871 4 55599340 55599340 T A GRCh37 KIT p.N822K [melanoma NA 0.767 4 55599341 55599341 T G GRCh37 KIT p.Y823D [gastrointestinal stromal tumor] [23582185 0.921 4 55602664 55602664 G C GRCh37 KIT p.A829P [melanoma NA 0.799 5 35873597 35873597 A T GRCh37 IL7R p.S185C [lymphoblastic leukemia] [22897847 0.261 5 149441328 149441328 A C GRCh37 CSF1R p.Y571D [hematologic cancer] [18971950] 0.95 5 176522416 176522416 C A GRCh37 FGFR4 p.N535K [rhabdomyosarcoma] [24124571] 0.88 5 176522552 176522552 T A GRCh37 FGFR4 p.V550E [rhabdomyosarcoma] [24124571] 0.969 6 117638347 117638347 C T GRCh37 ROS1 p.G2032R [lung adenocarcinoma] [23724914] 0.55 6 152415537 152415537 T C GRCh37 ESR1 p.S463P [progesterone-receptor positive breast cancer] [24185512] 0.871 6 152419914 152419914 T A GRCh37 ESR1 p.V534E [progesterone-receptor positive breast cancer] [24185512] 0.748 6 152419917 152419917 C A GRCh37 ESR1 p.P535H [progesterone-receptor positive breast cancer] [24185512] 0.916 6 152419920 152419920 T G GRCh37 ESR1 p.L536R [progesterone-receptor positive breast cancer] [24185512 0.94 6 152419922 152419922 T A GRCh37 ESR1 p.Y537N [progesterone-receptor positive breast cancer] [24185512 0.944 6 152419923 152419923 A C GRCh37 ESR1 p.Y537S [progesterone-receptor positive breast cancer] [24185512 0.687 6 152419923 152419923 A G GRCh37 ESR1 p.Y537C [progesterone-receptor positive breast cancer] [24185512 0.955 6 152419926 152419926 A G GRCh37 ESR1 p.D538G [progesterone-receptor positive breast cancer] [24185512 0.902 7 55211080 55211080 G A GRCh37 EGFR p.R108K [brain cancer] [17177598] 0.939 7 55221743 55221743 A C GRCh37 EGFR p.T263P [brain cancer] [17177598] 0.713 7 55221822 55221822 C T GRCh37 EGFR p.A289V [brain cancer] [17177598] 0.931 7 55233043 55233043 G T GRCh37 EGFR p.G598V [brain cancer] [17177598] 0.938 7 55228007 55228007 A G GRCh37 EGFR p.S492G [colorectal cancer] [22270724] 0.55 7 55231430 55231430 C T GRCh37 EGFR p.P546S [cancer] [23578570] 0.939 7 55241620 55241620 G A GRCh37 EGFR p.E690K [endometrial cancer] [22885469] 0.946 7 55241707 55241707 G A GRCh37 EGFR p.G719S [non-small cell lung carcinoma] [15118073 0.954 7 55241707 55241707 G T GRCh37 EGFR p.G719C [non-small cell lung carcinoma] [15118073 0.953 7 55241708 55241708 G A GRCh37 EGFR p.G719D [lung squamous cell carcinoma] [22753918 0.976 7 55241708 55241708 G C GRCh37 EGFR p.G719A [non-small cell lung carcinoma] [15118073 0.941 7 55242470 55242470 T C GRCh37 EGFR p.L747S [lung squamous cell carcinoma] [22753918 0.928 7 55242487 55242487 C T GRCh37 EGFR p.P753S [cancer] [24934779] 0.884 7 55249005 55249005 G T GRCh37 EGFR p.S768I [lung squamous cell carcinoma] [22753918 0.94 7 55249071 55249071 C T GRCh37 EGFR p.T790M [non-small cell lung carcinoma] [15118073 0.932 7 55259469 55259469 G A GRCh37 EGFR p.V843I [cancer] [21274259] 0.7 7 55259515 55259515 T G GRCh37 EGFR p.L858R [non-small cell lung carcinoma] [15118073 0.979 7 55259524 55259524 T A GRCh37 EGFR p.L861Q [non-small cell lung carcinoma] [15118073 0.947 7 55259524 55259524 T C GRCh37 EGFR p.L861P [lung squamous cell carcinoma] [22753918 0.971 7 55259524 55259524 T G GRCh37 EGFR p.L861R [lung squamous cell carcinoma] [22753918 0.979 7 116411923 116411923 C T GRCh37 MET p.R988C [cancer] [17483355] 0.841 7 116411990 116411990 C T GRCh37 MET p.T1010I [cancer] [17483355] 0.961 7 116417457 116417457 G A GRCh37 MET p.V1110I [cancer] [17483355] 0.78 7 116417464 116417464 A G GRCh37 MET p.H1112R [renal carcinoma] [23213094] 0.945 7 116423414 116423414 A G GRCh37 MET p.Y1248C [cancer] [17483355] 0.92 7 116423428 116423428 T G GRCh37 MET p.Y1253D [cancer] [17483355] 0.914 7 116423474 116423474 T C GRCh37 MET p.M1268T [renal carcinoma] [23610116] 0.882 7 116423475 116423475 G A GRCh37 MET p.M1268I [cancer] [17483355] 0.837 7 128849189 128849189 G C GRCh37 SMO p.D473H [medulloblastoma NA 0.809 7 148508728 148508728 A G GRCh37 EZH2 p.Y646H [lymphoma] [23023262] 0.76 7 148508728 148508728 A T GRCh37 EZH2 p.Y646N [lymphoma] [23023262] 0.88 7 148508727 148508727 T A GRCh37 EZH2 p.Y646F [lymphoma] [23023262 0.436 7 148508727 148508727 T G GRCh37 EZH2 p.Y646S [lymphoma] [23023262] 0.748 7 148506467 148506467 G C GRCh37 EZH2 p.A682G [lymphoma] [23023262] 0.783 7 140453133 140453133 T C GRCh37 BRAF p.K601R [melanoma] [23248257] 0.813 7 140453134 140453134 T C GRCh37 BRAF p.K601E [melanoma] [14679157 0.944 7 140453136 140453136 A C GRCh37 BRAF p.V600G [melanoma] [12068308 0.663 7 140453136 140453136 A T GRCh37 BRAF p.V600E [myeloma NA 0.928 7 140453137 140453137 C A GRCh37 BRAF p.V600L [melanoma] [21750866 0.579 7 140453137 140453137 C T GRCh37 BRAF p.V600M [melanoma] [12460918 0.721 7 140453145 140453145 A C GRCh37 BRAF p.L597R [ovarian cancer NA 0.929 7 140453145 140453145 A T GRCh37 BRAF p.L597Q [melanoma] [12460918 0.772 7 140453146 140453146 G C GRCh37 BRAF p.L597V [melanoma NA 0.675 7 140453149 140453149 C G GRCh37 BRAF p.G596R [colorectal cancer] [19537845 0.858 7 140453153 140453153 A C GRCh37 BRAF p.D594E [melanoma] [12068308 0.835 7 140453154 140453154 T A GRCh37 BRAF p.D594V [melanoma NA 0.898 7 140453154 140453154 T C GRCh37 BRAF p.D594G [melanoma NA 0.752 7 140453154 140453154 T G GRCh37 BRAF p.D594A [melanoma] [2872605] 0.825 7 140453155 140453155 C G GRCh37 BRAF p.D594H [melanoma] [12068308 0.842 7 140453155 140453155 C T GRCh37 BRAF p.D594N [melanoma] [12068308 0.79 7 140481393 140481393 T C GRCh37 BRAF p.Y472C [lung cancer] [12460918 0.892 7 140481402 140481402 C G GRCh37 BRAF p.G469A [lung adenocarcinoma NA 0.601 7 140481402 140481402 C T GRCh37 BRAF p.G469E [melanoma NA 0.943 7 140481411 140481411 C A GRCh37 BRAF p.G466V [lung cancer NA 0.887 9 5078360 5078360 A G GRCh37 JAK2 p.R683G [lymphoblastic leukemia] [19470474 0.929 9 5078361 5078361 G C GRCh37 JAK2 p.R683T [lymphoblastic leukemia] [19470474 0.916 9 5078362 5078362 A C GRCh37 JAK2 p.R683S [lymphoblastic leukemia] [19470474 0.93 9 80409488 80409488 T A GRCh37 GNAQ p.Q209L [melanoma] [18719078 0.916 9 80409488 80409488 T C GRCh37 GNAQ p.Q209R [melanoma] [18719078 0.836 9 80409488 80409488 T G GRCh37 GNAQ p.Q209P [melanoma] [18719078 0.833 9 133738306 133738306 G A GRCh37 ABL1 p.E255K [chronic myeloid leukemia] [21562040] 0.972 9 133738357 133738357 T C GRCh37 ABL1 p.Y272H [chronic myeloid leukemia] [21562040] 0.968 9 133747588 133747588 G C GRCh37 ABL1 p.V318L [chronic myeloid leukemia] [21562040] 0.908 9 133748282 133748282 A G GRCh37 ABL1 p.T334A [chronic myeloid leukemia] [21562040] 0.927 9 133748283 133748283 C T GRCh37 ABL1 p.T334I [chronic myeloid leukemia NA 0.958 9 133748288 133748288 T A GRCh37 ABL1 p.F336I [chronic myeloid leukemia] [21562040] 0.972 9 133748288 133748288 T G GRCh37 ABL1 p.F336V [chronic myeloid leukemia] [21562040] 0.955 9 133748289 133748289 T G GRCh37 ABL1 p.F336C [chronic myeloid leukemia] [21562040] 0.977 9 133748290 133748290 C A GRCh37 ABL1 p.F336L [chronic myeloid leukemia] [21562040] 0.964 9 133748414 133748414 T A GRCh37 ABL1 p.F378I [chronic myeloid leukemia] [21562040] 0.969 9 133748414 133748414 T C GRCh37 ABL1 p.F378L [chronic myeloid leukemia] [21562040] 0.954 9 133748415 133748415 T G GRCh37 ABL1 p.F378C [chronic myeloid leukemia] [21562040] 0.978 10 43609950 43609950 C G GRCh37 RET p.C634W [thyroid cancer] [20065189 0.856 10 43617416 43617416 T C GRCh37 RET p.M918T [thyroid cancer] [9681850 0.964 10 89692904 89692904 C G GRCh37 PTEN p.R130G [ovarian cancer] [18767981 0.912 10 89692905 89692905 G A GRCh37 PTEN p.R130Q [ovarian cancer] [18767981 0.949 10 89692993 89692993 G T GRCh37 PTEN p.R159S [colorectal cancer NA 0.856 10 123247516 123247516 T C GRCh37 FGFR2 p.K660E [endometrial cancer] [23908597] 0.946 10 123256060 123256060 A T GRCh37 FGFR2 p.L618M [endometrial cancer] [23908597] 0.694 10 123256215 123256215 T C GRCh37 FGFR2 p.E566G [endometrial cancer] [23908597] 0.907 10 123256219 123256219 C T GRCh37 FGFR2 p.V565I [endometrial cancer] [23908597] 0.805 10 123258034 123258034 A C GRCh37 FGFR2 p.N550K [endometrial cancer] [18552176 0.895 10 123258036 123258036 T G GRCh37 FGFR2 p.N550H [endometrial cancer] [23908597] 0.921 10 123258042 123258042 T C GRCh37 FGFR2 p.I548V [endometrial cancer] [23908597] 0.798 10 123258070 123258070 C A GRCh37 FGFR2 p.M538I [endometrial cancer] [23908597] 0.93 10 123258076 123258076 C A GRCh37 FGFR2 p.M536I [endometrial cancer] [23908597] 0.93 10 123279677 123279677 G C GRCh37 FGFR2 p.S252W [endometrial cancer] [18552176 0.827 10 123278324 123278324 G C GRCh37 FGFR2 p.S320C [lung squamous cell carcinoma] [23786770] 0.729 10 123279562 123279562 C G GRCh37 FGFR2 p.W290C [lung squamous cell carcinoma] [23786770] 0.984 10 123279674 123279674 G C GRCh37 FGFR2 p.P253R [cancer] [23786770] 0.911 11 533874 533874 T C GRCh37 HRAS p.Q61R [thyroid cancer] [17384584 0.817 11 534286 534286 C A GRCh37 HRAS p.G13C [thyroid cancer] [17384584 0.975 11 534286 534286 C G GRCh37 HRAS p.G13R [thyroid cancer] [17384584 0.974 11 534288 534288 C A GRCh37 HRAS p.G12V [thyroid cancer] [17384584 0.973 11 534289 534289 C G GRCh37 HRAS p.G12R [thyroid cancer] [17384584 0.967 11 119148891 119148891 T C GRCh37 CBL p.Y371H [hematologic cancer] [23696637] 0.833 11 119148930 119148930 T C GRCh37 CBL p.C384R [hematologic cancer] [23696637] 0.917 12 25378561 25378561 G A GRCh37 KRAS p.A146V [thyroid cancer NA 0.863 12 25378562 25378562 C G GRCh37 KRAS p.A146P [colorectal cancer] [18316791 0.832 12 25378562 25378562 C T GRCh37 KRAS p.A146T [colorectal cancer] [18316791 0.893 12 25378647 25378647 T A GRCh37 KRAS p.K117N [colorectal cancer] [18316791 0.728 12 25380275 25380275 T A GRCh37 KRAS p.Q61H [non-small cell lung carcinoma NA 0.824 12 25380276 25380276 T A GRCh37 KRAS p.Q61L [thyroid cancer NA 0.769 12 25380276 25380276 T C GRCh37 KRAS p.Q61R [thyroid cancer NA 0.857 12 25380276 25380276 T G GRCh37 KRAS p.Q61P [thyroid cancer] [17384584 0.877 12 25380277 25380277 G T GRCh37 KRAS p.Q61K [thyroid cancer NA 0.636 12 25398281 25398281 C A GRCh37 KRAS p.G13V [colorectal cancer] [18316791 0.656 12 25398284 25398284 C A GRCh37 KRAS p.G12V [thyroid cancer NA 0.719 12 25398281 25398281 C G GRCh37 KRAS p.G13A [non-small cell lung carcinoma NA 0.657 12 25398281 25398281 C T GRCh37 KRAS p.G13D [thyroid cancer NA 0.742 12 25398282 25398282 C A GRCh37 KRAS p.G13C [non-small cell lung carcinoma NA 0.59 12 25398282 25398282 C G GRCh37 KRAS p.G13R [thyroid cancer NA 0.601 12 25398282 25398282 C T GRCh37 KRAS p.G13S [thyroid cancer NA 0.743 12 25398284 25398284 C G GRCh37 KRAS p.G12A [ovarian cancer NA 0.537 12 25398284 25398284 C T GRCh37 KRAS p.G12D [thyroid cancer NA 0.747 12 25398285 25398285 C A GRCh37 KRAS p.G12C [thyroid cancer NA 0.721 12 25398285 25398285 C G GRCh37 KRAS p.G12R [thyroid cancer NA 0.735 13 28602340 28602340 G C GRCh37 FLT3 p.N676K [acute myeloid leukemia] [23878140 0.916 12 25398285 25398285 C T GRCh37 KRAS p.G12S [thyroid cancer NA 0.699 12 56481857 56481857 C A GRCh37 ERBB3 p.P262H [cancer] [23680147] 0.825 12 56481922 56481922 G A GRCh37 ERBB3 p.G284R [stomach cancer NA 0.943 12 56490980 56490980 A G GRCh37 ERBB3 p.Q809R [cancer] [23680147] 0.857 13 28592620 28592620 T C GRCh37 FLT3 p.Y842C [acute myeloid leukemia] [22504184 0.973 13 28592621 28592621 A G GRCh37 FLT3 p.Y842H [acute myeloid leukemia] [22504184 0.881 13 28592629 28592629 T C GRCh37 FLT3 p.D839G [acute myeloid leukemia] [15667533] 0.92 13 28592637 28592637 G C GRCh37 FLT3 p.I836M [acute myeloid leukemia] [23261068 0.672 13 28592639 28592639 T G GRCh37 FLT3 p.I836L [acute myeloid leukemia] [23261068 0.474 13 28592640 28592640 A C GRCh37 FLT3 p.D835E [acute myeloid leukemia] [23261068 0.678 13 28592641 28592641 T A GRCh37 FLT3 p.D835V [acute myeloid leukemia] [23261068 0.952 13 28592641 28592641 T G GRCh37 FLT3 p.D835A [acute myeloid leukemia] [23261068 0.857 13 28592642 28592642 C A GRCh37 FLT3 p.D835Y [acute myeloid leukemia] [23261068 0.938 13 28592642 28592642 C G GRCh37 FLT3 p.D835H [acute myeloid leukemia] [23261068 0.957 13 28592642 28592642 C T GRCh37 FLT3 p.D835N [acute myeloid leukemia] [23261068 0.837 13 28601359 28601359 A C GRCh37 FLT3 p.F691L [acute myeloid leukemia] [22504184] 0.828 13 28601373 28601373 T A GRCh37 FLT3 p.I687F [acute myeloid leukemia] [22504184 0.573 13 28602342 28602342 T C GRCh37 FLT3 p.N676D [acute myeloid leukemia] [22504184 0.774 13 28602416 28602416 T C GRCh37 FLT3 p.D651G [acute myeloid leukemia] [22504184 0.519 13 28608111 28608111 C A GRCh37 FLT3 p.G619C [acute myeloid leukemia] [22504184 0.892 14 105243048 105243048 G T GRCh37 AKT1 p.Q79K [melanoma] [24265152] 0.814 14 105246551 105246551 C T GRCh37 AKT1 p.E17K [non-small cell lung carcinoma NA 0.794 15 28505975 28505975 A G GRCh37 HERC2 p.L755S [breast cancer] [23220880] 0.668 15 28517518 28517518 G C GRCh37 HERC2 p.A309G [breast cancer] [23220880] 0.44 15 66727441 66727441 T C GRCh37 MAP2K1 p.F53L [melanoma] [22197931] 0.837 15 66727451 66727451 A C GRCh37 MAP2K1 p.Q56P [non-small cell lung carcinoma NA 0.874 15 66727453 66727453 A G GRCh37 MAP2K1 p.K57E [melanoma] [23569304] 0.668 15 66727455 66727455 G C GRCh37 MAP2K1 p.K57N [melanoma] [23444215] 0.815 15 66727483 66727483 G A GRCh37 MAP2K1 p.D67N [non-small cell lung carcinoma] [18060073 0.763 15 66729088 66729088 T C GRCh37 MAP2K1 p.I99T [cancer] [19915144] 0.875 15 66729100 66729100 T A GRCh37 MAP2K1 p.I103N [cancer] [19915144 0.825 15 66729124 66729124 T A GRCh37 MAP2K1 p.I111N [cancer] [19915144] 0.832 15 66729124 66729124 T G GRCh37 MAP2K1 p.I111S [melanoma] [22197931 0.908 15 66729148 66729148 A C GRCh37 MAP2K1 p.H119P [cancer] [19915144] 0.919 15 66729152 66729152 G C GRCh37 MAP2K1 p.E120D [cancer] [19915144] 0.829 15 66729154 66729154 G C GRCh37 MAP2K1 p.C121S [melanoma] [22197931 0.873 15 66729162 66729162 C T GRCh37 MAP2K1 p.P124S [melanoma] [22197931 0.905 15 66729163 66729163 C T GRCh37 MAP2K1 p.P124L [melanoma] [22197931 0.935 15 66729175 66729175 G A GRCh37 MAP2K1 p.G128D [melanoma] [19915144] 0.964 15 66729177 66729177 T C GRCh37 MAP2K1 p.F129L [melanoma] [19915144 0.922 15 66774131 66774131 G A GRCh37 MAP2K1 p.E203K [melanoma] [22197931 0.922 15 66774156 66774156 T A GRCh37 MAP2K1 p.V211D [cancer] [19915144] 0.884 15 66774168 66774168 T C GRCh37 MAP2K1 p.L215P [cancer] [19915144 0.932 15 66777424 66777424 C T GRCh37 MAP2K1 p.P264S [melanoma] [22197931 0.909 15 66782915 66782915 A C GRCh37 MAP2K1 p.N382H [melanoma] [22197931] 0.608 15 90631837 90631837 C G GRCh37 IDH2 p.R172S [acute myeloid leukemia] [22160010 0.971 15 90631838 90631838 C A GRCh37 IDH2 p.R172M [acute myeloid leukemia] [22160010 0.947 15 90631838 90631838 C T GRCh37 IDH2 p.R172K [acute myeloid leukemia] [22160010 0.843 15 90631934 90631934 C A GRCh37 IDH2 p.R140L [acute myeloid leukemia] [22160010 0.842 15 90631934 90631934 C T GRCh37 IDH2 p.R140Q [acute myeloid leukemia] [22160010 0.979 15 90631935 90631935 G A GRCh37 IDH2 p.R140W [acute myeloid leukemia] [22160010 0.971 16 81946260 81946260 C T GRCh37 PLCG2 p.R665W [breast cancer] [24869598] 0.958 16 81962183 81962183 A C GRCh37 PLCG2 p.L845F [breast cancer] [24869598] 0.478 17 7577120 7577120 C T GRCh37 TP53 p.R273H [acute myeloid leukemia] [24641375 0.85 17 7577121 7577121 G A GRCh37 TP53 p.R273C [acute myeloid leukemia] [24641375 0.958 17 7577535 7577535 C G GRCh37 TP53 p.R249T [acute myeloid leukemia] [24641375 0.725 17 7577536 7577536 T A GRCh37 TP53 p.R249W [acute myeloid leukemia] [24641375 0.871 17 7577538 7577538 C T GRCh37 TP53 p.R248Q [acute myeloid leukemia] [24641375 0.873 17 7578190 7578190 T C GRCh37 TP53 p.Y220C [acute myeloid leukemia] [24641375 0.957 17 7578412 7578412 A C GRCh37 TP53 p.V173G [acute myeloid leukemia] [24641375 0.722 17 7578412 7578412 A G GRCh37 TP53 p.V173A [acute myeloid leukemia] [24641375 0.801 17 37868205 37868205 G A GRCh37 ERBB2 p.G309E [lung adenocarcinoma] [22908275] 0.751 17 37868205 37868205 G C GRCh37 ERBB2 p.G309A [breast cancer] [23220880] 0.42 17 37868208 37868208 C A GRCh37 ERBB2 p.S310Y [cancer] [22908275] 0.331 17 37868208 37868208 C T GRCh37 ERBB2 p.S310F [cancer] [22908275] 0.491 17 37880261 37880261 G C GRCh37 ERBB2 p.D769H [breast cancer] [23220880 0.894 17 37880261 37880261 G T GRCh37 ERBB2 p.D769Y [breast cancer] [23220880 0.91 17 37881000 37881000 G T GRCh37 ERBB2 p.V777L [breast cancer] [23220880 0.822 17 37881332 37881332 G A GRCh37 ERBB2 p.V842I [breast cancer] [23220880 0.737 17 37881616 37881616 C T GRCh37 ERBB2 p.R896C [breast cancer] [23220880 0.614 18 48591826 48591826 A C GRCh37 SMAD4 p.E330A [colorectal cancer] [14715079 0.938 18 48591888 48591888 G A GRCh37 SMAD4 p.D351N [colorectal cancer] [14715079 0.906 18 48591888 48591888 G C GRCh37 SMAD4 p.D351H [colorectal cancer] [14715079 0.933 18 48591902 48591902 C A GRCh37 SMAD4 p.D355E [colorectal cancer] [14715079 0.827 18 48591918 48591918 C A GRCh37 SMAD4 p.R361S [colorectal cancer] [14715079 0.932 18 48591918 48591918 C T GRCh37 SMAD4 p.R361C [colorectal cancer] [14715079 0.984 18 48591919 48591919 G A GRCh37 SMAD4 p.R361H [colorectal cancer] [14715079 0.895 18 48604787 48604787 G T GRCh37 SMAD4 p.D537Y [colorectal cancer] [14715079 0.962 19 1220489 1220489 C A GRCh37 STK11 p.D194E [rhabdomyosarcoma] [21189378] 0.86 19 3118942 3118942 A C GRCh37 GNA11 p.Q209P [melanoma] [21083380 0.773 19 3118942 3118942 A T GRCh37 GNA11 p.Q209L [melanoma] [21083380 0.669 19 4110581 4110581 T C GRCh37 MAP2K2 p.N126D [melanoma] [24265153] 0.836 19 4110584 4110584 A T GRCh37 MAP2K2 p.C125S [melanoma] [24265153] 0.901 19 4117541 4117541 T G GRCh37 MAP2K2 p.Q60P [melanoma] [24265154] 0.888 19 4117584 4117584 G A GRCh37 MAP2K2 p.L46F [melanoma] [24265153] 0.897 19 4117617 4117617 C T GRCh37 MAP2K2 p.V35M [melanoma] [24265153] 0.717 19 17945969 17945969 C T GRCh37 JAK3 p.R657Q [megakaryocytic leukemia] [18397343] 0.845 19 17949138 17949138 C A GRCh37 JAK3 p.Q501H [megakaryocytic leukemia] [18397343] 0.591 19 17954634 17954634 A G GRCh37 JAK3 p.I87T [megakaryocytic leukemia] [18397343] 0.693 19 18278061 18278061 A G GRCh37 PIK3R2 p.N561D [endometrial cancer] [21984976] 0.815 20 57484420 57484420 C T GRCh37 GNAS p.R202C [cancer] [21835143] 0.781 20 57484421 57484421 G A GRCh37 GNAS p.R202H [cancer] [21835143] 0.683 20 57484421 57484421 G T GRCh37 GNAS p.R202L [cancer] [21835143] 0.668 21 36252876 36252876 C A GRCh37 RUNX1 p.R162S [acute myeloid leukemia] [24659740 0.929 21 36252877 36252877 C T GRCh37 RUNX1 p.R162K [acute myeloid leukemia] [24659740 0.763 21 36252878 36252878 T C GRCh37 RUNX1 p.R162G [acute myeloid leukemia] [24659740 0.944 21 44514777 44514777 T C GRCh37 U2AF1 p.Q157R [acute myeloid leukemia] [22158538] 0.76 21 44514777 44514777 T G GRCh37 U2AF1 p.Q157P [acute myeloid leukemia] [22158538] 0.826 21 44524456 44524456 G A GRCh37 U2AF1 p.S34F [acute myeloid leukemia] [22158538 0.821 21 44524456 44524456 G T GRCh37 U2AF1 p.S34Y [acute myeloid leukemia] [22158538 0.491 X 1314966 1314966 A C GRCh37 CRLF2 p.F232C [lymphoblastic leukemia] [19907440 0.041 X 47426121 47426121 C G GRCh37 ARAF p.S214C [lung adenocarcinoma] [24569458] 0.781 X 100611164 100611164 C G GRCh37 BTK p.C481S [breast cancer] [24869598] 0.823