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TCGA tumor abbreviations
  • ACCAdrenocortical carcinoma
  • BLCABladder Urothelial Carcinoma
  • BRCABreast invasive carcinoma
  • CESCCervical squamous cell carcinoma and endocervical adenocarcinoma
  • CHOLCholangio carcinoma
  • COADColon adenocarcinoma
  • DLBCLymphoid Neoplasm Diffuse Large B-cell Lymphoma
  • ESCAEsophageal carcinoma
  • GBMGlioblastoma multiforme
  • HNSCHead and Neck squamous cell carcinoma
  • KICHKidney Chromophobe
  • KIRCKidney renal clear cell carcinoma
  • KIRPKidney renal papillary cell carcinoma
  • LAMLAcute Myeloid Leukemia
  • LGGBrain Lower Grade Glioma
  • LIHCLiver hepatocellular carcinoma
  • LUADLung adenocarcinoma
  • LUSCLung squamous cell carcinoma
  • MESOMesothelioma
  • OVOvarian serous cystadenocarcinoma
  • PAADPancreatic adenocarcinoma
  • PCPGPheochromocytoma and Paraganglioma
  • PRADProstate adenocarcinoma
  • READRectum adenocarcinoma
  • SARCSarcoma
  • SKCMSkin Cutaneous Melanoma
  • STADStomach adenocarcinoma
  • TGCTThyroid carcinoma
  • THCAThyroid carcinoma
  • THYMThymoma
  • UCECUterine Corpus Endometrial Carcinoma
  • UCSUterine Carcinosarcoma
  • UVMUveal Melanoma

Note: Click here to get the extension of tumor abbreviations.


  • Cancer Related Information
  • Basic Information

Cancer associated literatures
PIDTitleArticle TimeAuthorDoi
19048115Neurofibromin 1 (NF1) defects are common in human ovarian serous carcinomas and co-occur with TP53 mutations.Neoplasia2008 DecSangha N-
20082856Loss of SDHB and NF1 genes in a malignant phyllodes tumor of the breast as detected by oligo-array comparative genomic hybridization.Cancer Genet Cytogenet2010 Jan 15Lee Jdoi: 10.1016/j.cancergencyto.2009.09.005.
23528211NF1 gene silencing induces upregulation of vascular endothelial growth factor expression in both Schwann and non-Schwann cells.Exp Dermatol2013 AprKawachi Ydoi: 10.1111/exd.12115.
22945628Loss of tumor suppressor NF1 activates HSF1 to promote carcinogenesis.J Clin Invest2012 OctDai Cdoi: 10.1172/JCI62727
27798892Neurofibromin Expression is Associated with Aggressive Disease and Poor Outcome in Colorectal Carcinoma.Anticancer Res2016 OctElzagheid A-
12152785Differential NF1, p16, and EGFR patterns by interphase cytogenetics (FISH) in malignant peripheral nerve sheath tumor (MPNST) and morphologically similar spindle cell neoplasms.J Neuropathol Exp Neurol2002 AugPerry A-
24795011Paths of resistance to EGFR inhibitors: is NF enough?Cancer Discov2014 MayMaertens Odoi: 10.1158/2159-8290.CD-14-0286.
16908010Reconstitution of the NF1 GAP-related domain in NF1-deficient human Schwann cells.Biochem Biophys Res Commun2006 Sep 29Thomas SL-
20358387Analysis of NF1 somatic mutations in cutaneous neurofibromas from patients with high tumor burden.Neurogenetics2010 OctThomas Ldoi: 10.1007/s10048-010-0240-y
23437333Sensitivity of malignant peripheral nerve sheath tumor cells to TRAIL is augmented by loss of NF1 through modulation of MYC/MAD and is potentiated by curcumin through induction of ROS.PLoS One2013Reuss DEdoi: 10.1371/journal.pone.0057152
23423222RAS/MEK-independent gene expression reveals BMP2-related malignant phenotypes in the Nf1-deficient MPNST.Mol Cancer Res2013 JunSun Ddoi: 10.1158/1541-7786.MCR-12-0593
17096025The tumor suppressor neurofibromin confers sensitivity to apoptosis by Ras-dependent and Ras-independent pathways.Cell Death Differ2007 MayShapira S-
22015770Deletion of the tumor-suppressor gene NF1 occurs in 5% of myeloid malignancies and is accompanied by a mutation in the remaining allele in half of the cases.Leukemia2012 AprHaferlach Cdoi: 10.1038/leu.2011.296
12387455Mutational and expression analysis of the NF1 gene argues against a role as tumor suppressor in sporadic pilocytic astrocytomas.J Neuropathol Exp Neurol2002 OctWimmer K-
12199909Functional expression of NF1 tumor suppressor protein: association with keratin intermediate filaments during the early development of human epidermis.BMC Dermatol2002 Aug 29Malminen M-
26214590Exome sequencing identifies recurrent mutations in NF1 and RASopathy genes in sun-exposed melanomas.Nat Genet2015 SepKrauthammer Mdoi: 10.1038/ng.3361
15988004Transcriptional repression of the Neurofibromatosis-1 tumor suppressor by the t(8;21) fusion protein.Mol Cell Biol2005 JulYang G-
21551249Perinatal or adult Nf1 inactivation using tamoxifen-inducible PlpCre each cause neurofibroma formation.Cancer Res2011 Jul 1Mayes DAdoi: 10.1158/0008-5472.CAN-10-4558
24708790Suprarenal solitary fibrous tumor associated with a NF1 gene mutation mimicking a kidney neoplasm: implications for surgical management.World J Surg Oncol2014 Apr 7Conzo Gdoi: 10.1186/1477-7819-12-87.
22294457Internal tumor burden in neurofibromatosis Type I patients with large NF1 deletions.Genes Chromosomes Cancer2012 MayKluwe Ldoi: 10.1002/gcc.21931
17216419Nf1 expression is dependent on strain background: implications for tumor suppressor haploinsufficiency studies.Neurogenetics2007 AprHawes JJ-
23288408A genome-scale RNA interference screen implicates NF1 loss in resistance to RAF inhibition.Cancer Discov2013 MarWhittaker SRdoi: 10.1158/2159-8290.CD-12-0470
27477693Overexpression of PDGFRA cooperates with loss of NF1 and p53 to accelerate the molecular pathogenesis of malignant peripheral nerve sheath tumors.Oncogene2017 Feb 23Ki DHdoi: 10.1038/onc.2016.269
28646022NF1+/- Hematopoietic Cells Accelerate Malignant Peripheral Nerve Sheath Tumor Development without Altering Chemotherapy Response.Cancer Res2017 Aug 15Dodd RDdoi: 10.1158/0008-5472.CAN-16-2643
29392777p53 and NF 1 loss plays distinct but complementary roles in glioma initiation and progression.Glia2018 MayGonzalez PPdoi: 10.1002/glia.23297
30479396NF1 heterozygosity fosters de novo tumorigenesis but impairs malignant transformation.Nat Commun2018 Nov 27Brosseau JPdoi: 10.1038/s41467-018-07452-y.
22412049The neurofibromin 1 type I isoform predominance characterises female population affected by sporadic breast cancer: preliminary data.J Clin Pathol2012 MayMarrero Ddoi: 10.1136/jclinpath-2011-200569
25267367Neurofibromatosis with male breast cancer--risk factor or co-incidence? Report of two rare cases.Breast Dis2015Tandon Mdoi: 10.3233/BD-140387.
21280148Mosaic type-1 NF1 microdeletions as a cause of both generalized and segmental neurofibromatosis type-1 (NF1).Hum Mutat2011 FebMessiaen Ldoi: 10.1002/humu.21418.
23165953Increased risk of breast cancer in women with NF1.Am J Med Genet A2012 DecMadanikia SAdoi: 10.1002/ajmg.a.35550
20124472The neurofibromatosis type 1 tumor suppressor controls cell growth by regulating signal transducer and activator of transcription-3 activity in vitro and in vivo.Cancer Res2010 Feb 15Banerjee Sdoi: 10.1158/0008-5472.CAN-09-2178
23624750Increased Reach of Genetic Cancer Risk Assessment as a Tool for Precision Management of Hereditary Breast Cancer.JAMA Oncol2016 Jun 1Blazer KRdoi: 10.1001/jamaoncol.2015.5975.
24932921Neurofibromin deficiency-associated transcriptional dysregulation suggests a novel therapy for tibial pseudoarthrosis in NF1.J Bone Miner Res2014 DecParia Ndoi: 10.1002/jbmr.2298.
23135915Epigenetic regulation by Z-DNA silencer function controls cancer-associated ADAM-12 expression in breast cancer: cross-talk between MeCP2 and NF1 transcription factor family.Cancer Res2013 Jan 15Ray BKdoi: 10.1158/0008-5472.CAN-12-2601
22965642Breast cancer and other neoplasms in women with neurofibromatosis type 1: a retrospective review of cases in the Detroit metropolitan area.Am J Med Genet A2012 DecWang Xdoi: 10.1002/ajmg.a.35560
28067895The NF1 gene in tumor syndromes and melanoma.Lab Invest2017 FebKiuru Mdoi: 10.1038/labinvest.2016.142
28108518A Transposon-based Analysis Reveals RASA1 Is Involved in Triple-Negative Breast Cancer.Cancer Res2017 Mar 15Su??rez-Cabrera Cdoi: 10.1158/0008-5472.CAN-16-1586
26861459Clinical and Molecular Characteristics of NF1-Mutant Lung Cancer.Clin Cancer Res2016 Jul 1Redig AJdoi: 10.1158/1078-0432.CCR-15-2377
27494896MicroRNA 10b promotes abnormal expression of the proto-oncogene c-Jun in metastatic breast cancer cells.Oncotarget2016 Sep 13Knirsh Rdoi: 10.18632/oncotarget.11000.

Expression in 33 cancers

Mutations
CancerChrPosition Mutation TypedbSNPProtein-change Allele FreqRBD
ACCchr1731233208Nonsense_MutationnovelQ1235*0.66
ACCchr1731334931Frame_Shift_DelnovelR1970Efs*90.65
ACCchr1731337403Nonsense_MutationnovelE2155*0.67
ACCchr1731201041Missense_MutationnovelL356Q0.71
ACCchr1731335029Nonsense_MutationnovelQ2002*0.67
ACCchr1731327810Frame_Shift_InsnovelN1861Kfs*60.8
ACCchr1731206308SilentnovelF443F0.56
ACCchr1731227290Splice_SitenovelX775_splice0.87
BLCAchr1731229665Intronnovel0.27
BLCAchr1731265265Frame_Shift_DelnovelT1589Rfs*20.15
BLCAchr1731249062Missense_MutationNAI1351M0.08
BLCAchr1731227604Missense_MutationnovelQ803E0.05
BLCAchr1731337506Missense_MutationnovelP2189R0.07
BLCAchr1731227232Nonsense_MutationNAQ756*0.27
BLCAchr1731225094Splice_SitenovelX616_splice0.4
BLCAchr1731229838Frame_Shift_DelnovelL952Yfs*190.43
BLCAchr1731352390Nonsense_MutationnovelQ2531*0.2
BLCAchr1731357060Silentrs752218441P2613P0.25
BLCAchr1731226432Splice_Regionnovel0.22
BLCAchr1731260406Missense_MutationnovelD1490Y0.2
BLCAchr1731356556Missense_MutationnovelR2571T0.08
BLCAchr1731156114SilentnovelN64N0.11
BLCAchr1731350210Missense_Mutationrs533110479R2450Q0.16
BLCAchr1731226654Missense_MutationnovelF741L0.32
BLCAchr1731225246Missense_MutationNAS666C0.15
BLCAchr1731352300Nonsense_MutationNAE2501*0.13
BLCAchr1731181718Nonsense_MutationNAW221*0.43
BLCAchr1731200444Missense_Mutationrs76015786R304Q0.46
BLCAchr1731214466Nonsense_MutationNAE470*0.43
BLCAchr1731230327Missense_MutationNAE1020K0.45
BLCAchr1731356991SilentnovelH2590H0.25
BLCAchr1731232823SilentnovelV1146V0.2
BLCAchr1731336843Missense_MutationnovelR2119T0.56
BLCAchr1731337517Missense_MutationnovelE2193K0.57
BLCAchr1731338024Splice_SiteNAX2235_splice0.56
BLCAchr1731206343Missense_MutationnovelG455E0.24
BLCAchr1731229647Intronnovel0.25
BLCAchr1731163301Missense_MutationnovelR135L0.59
BLCAchr1731330351Missense_Mutationrs764782945E1889K0.34
BLCAchr1731163332SilentNAL145L0.15
BLCAchr1731232108Nonsense_MutationnovelS1078*0.52
BLCAchr1731343086SilentnovelL2380L0.5
BLCAchr1731200502Silentrs786201462A323A0.1
BLCAchr1731206318Missense_MutationNAL447F0.31
BLCAchr1731230886Nonsense_MutationNAS1053*0.27
BLCAchr1731201118Missense_MutationnovelS382P0.41
BLCAchr1731219128Intronnovel0.43
BLCAchr1731374109Missense_MutationNAR2825T0.16
BLCAchr1731349218Missense_MutationnovelE2430Q0.09
BLCAchr1731349220SilentnovelE2430E0.09
BLCAchr1731227232Nonsense_MutationNAQ756*0.91
BLCAchr1731336794Missense_MutationnovelL2103F0.42
BLCAchr1731235661SilentnovelL1253L0.21
BLCAchr1731249030Nonsense_Mutationrs137854559Q1341*0.25
BLCAchr1731326170Frame_Shift_DelnovelT1730Pfs*40.34
BLCAchr1731338055SilentnovelQ2245Q0.44
BRCAchr1731336704Missense_MutationnovelL2073V0.23
BRCAchr1731235639Frame_Shift_DelNAF1247Ifs*180.28
BRCAchr1731235964Missense_MutationNAR1306Q0.08
BRCAchr1731236023Splice_SiteNAX1325_splice0.39
BRCAchr1731219101Frame_Shift_InsnovelA542Efs*210.06
BRCAchr1731201052Missense_MutationnovelP360A0.24
BRCAchr1731235773Splice_SiteNAX1290_splice0.25
BRCAchr17313750133'UTRnovel0.1
BRCAchr1731265318Frame_Shift_DelNAY1607Ifs*170.63
BRCAchr1731340636Missense_MutationNAF2351L0.3
BRCAchr1731156044Frame_Shift_DelNAE41Dfs*30.34
BRCAchr1731181490Splice_SitenovelX218_splice0.11
BRCAchr1731229171Silentrs771308677L852L0.2
BRCAchr1731219047Missense_MutationNAE524Q0.14
BRCAchr1731200572Nonsense_MutationNAQ347*0.85
BRCAchr1731229490Intronnovel0.41
BRCAchr1731222011Intronnovel0.18
BRCAchr1731258338Splice_SitenovelX1392_splice0.76
BRCAchr1731221868Nonsense_MutationnovelQ554*0.08
BRCAchr1731230872Nonsense_MutationnovelW1048*0.11
BRCAchr1731336841Frame_Shift_InsnovelR2119Qfs*100.08
BRCAchr1731358599Frame_Shift_DelnovelY2698Hfs*390.48
BRCAchr1731330366Missense_Mutationrs774893767E1894Q0.21
BRCAchr1731219080Nonsense_MutationNAQ535*0.34
BRCAchr1731235608Splice_Regionnovel0.19
BRCAchr1731343130Splice_SitenovelX2397_splice0.23
BRCAchr1731374134Silentrs142636150N2833N0.19
BRCAchr1731259040Missense_MutationNAQ1447H0.27
BRCAchr1731232838SilentnovelN1151N0.06
BRCAchr1731358545Missense_MutationNAN2679S0.14
BRCAchr1731214450Splice_SiteNAX465_splice0.12
BRCAchr1731336722Missense_MutationnovelA2079S0.08
BRCAchr1731261855Splice_SiteNAX1575_splice0.25
BRCAchr1731357023Nonsense_MutationNAS2601*0.67
BRCAchr1731235650Missense_MutationNAR1250W0.31
BRCAchr1731327607Silentrs761676110L1793L0.07
BRCAchr1731226580Missense_MutationNAE716V0.23
BRCAchr1731358497Frame_Shift_InsnovelK2664*0.28
BRCAchr1731330373Missense_MutationNAS1896L0.26
BRCAchr1731330501Splice_Regionnovel0.83
BRCAchr1731249063Missense_MutationNAS1352G0.25
BRCAchr1731219063Missense_MutationnovelL529P0.08
BRCAchr1731229754Intronnovel0.12
BRCAchr1731326184Nonsense_MutationNAE1734*0.15
BRCAchr1731358589Frame_Shift_InsNAP2696Tfs*140.36
BRCAchr1731356957Splice_Regionnovel0.76
BRCAchr1731221921Nonsense_MutationNAW571*0.13
BRCAchr1731163254Frame_Shift_InsnovelF120Pfs*460.11
BRCAchr1731357276Frame_Shift_DelnovelV2627Nfs*80.32
BRCAchr1731327768SilentNAR1846R0.4
BRCAchr1731163271Missense_MutationnovelR125P0.48
BRCAchr1731200484Frame_Shift_DelNAE318Kfs*110.76
BRCAchr1731252700Intronnovel0.2
BRCAchr1731201070Nonsense_MutationNAR366*0.1
BRCAchr1731252790Intronnovel0.36
BRCAchr17313773843'UTRnovel0.1
CESCchr17310949825'UTRnovel0.43
CESCchr1731338065Missense_MutationnovelL2249V0.33
CESCchr1731336814SilentNAF2109F0.16
CESCchr1731229467Splice_SiteNAX950_splice0.14
CESCchr1731350209Nonsense_Mutationrs786202457R2450*0.11
CESCchr17313775453'UTRnovel0.26
CESCchr1731232791Missense_MutationNAR1136W0.52
CESCchr1731367275Intronnovel0.1
CESCchr1731227285SilentnovelN773N0.42
CESCchr1731327783SilentnovelP1851P0.11
CESCchr17313750133'UTRnovel0.02
CESCchr1731182549Nonsense_MutationNAE258*0.31
CESCchr1731200552Missense_Mutationrs771089333S340C0.42
CESCchr1731334918Missense_MutationNAD1965N0.25
CESCchr1731357078Frame_Shift_InsnovelL2620Tfs*140.07
CESCchr17313750133'UTRnovel0.1
CESCchr1731261833Nonsense_MutationNAS1567*0.29
CESCchr1731226626SilentNAL731L0.34
CESCchr1731227570Missense_MutationNAI791M0.25
CESCchr1731229188Missense_MutationNAS858Y0.26
CESCchr1731229606Intronnovel0.26
CESCchr1731201423Nonsense_MutationNAQ400*0.38
CESCchr1731229406Missense_Mutationrs764290369P931A0.38
CESCchr1731229911Missense_MutationnovelT976N0.36
CESCchr1731235729Missense_Mutationrs137854556R1276Q0.42
CESCchr1731337486Nonsense_MutationnovelY2182*0.4
CESCchr1731340614Missense_MutationnovelT2344I0.34
CESCchr1731360668Missense_MutationnovelS2781F0.32
CESCchr17313743123'UTRnovel0.4
CESCchr17313752583'UTRnovel0.25
CESCchr1731230327Missense_MutationNAE1020K0.33
CESCchr1731214537Silentrs139653388L493L0.32
CESCchr1731258365Nonsense_MutationNAQ1399*0.23
CESCchr17313750133'UTRnovel0.06
CESCchr17313746533'UTRnovel0.58
CESCchr1731229870In_Frame_DelnovelE962_A966delinsD0.04
CESCchr17313746763'UTRnovel0.31
CESCchr1731325853SilentNAL1623L0.51
CESCchr1731252949SilentnovelH1374H0.37
CHOLchr17313750133'UTRnovel0.03
CHOLchr1731261795SilentnovelV1554V0.07
CHOLchr1731337876Nonsense_MutationNAQ2234*0.31
CHOLchr1731235963Nonsense_MutationNAR1306*0.09
CHOLchr17313750133'UTRnovel0.06
COADchr1731367242IntronNA0.27
COADchr1731338140Splice_SiteNAX2273_splice0.13
COADchr1731349141Missense_Mutationrs771706364A2404V0.48
COADchr1731334998SilentNAS1991S0.13
COADchr1731260498Missense_MutationNAQ1520H0.21
COADchr1731356474Missense_MutationnovelF2544V0.3
COADchr1731226460Frame_Shift_Delrs747195556P678Rfs*100.35
COADchr1731219135IntronNA0.25
COADchr1731357058Missense_MutationNAP2613T0.04
COADchr1731229444Frame_Shift_InsNAD946*0.2
COADchr1731258461Missense_MutationNAP1431S0.24
COADchr1731232760Silentrs112589561A1125A0.14
COADchr1731156033SilentNAE37E0.12
COADchr1731219088SilentNAH537H0.24
COADchr1731252775IntronNA0.21
COADchr1731350222Missense_MutationNAS2454N0.19
COADchr1731352415Splice_SiteNAX2539_splice0.15
COADchr17313742333'UTRnovel0.29
COADchr1731352332Silentrs760733171V2511V0.22
COADchr1731225125Frame_Shift_InsNAY628Lfs*60.17
COADchr1731226459Frame_Shift_Insrs780157990I679Dfs*210.37
COADchr1731260516Splice_SiteNAX1526_splice0.39
COADchr1731229677IntronNA0.27
COADchr1731235729Missense_Mutationrs137854556R1276Q0.24
COADchr1731229466Splice_SiteNAX950_splice0.17
COADchr1731232761Nonsense_MutationNAQ1126*0.17
COADchr17313818853'Flankrs7559463750.07
COADchr1731252978Frame_Shift_DelNAK1386Rfs*200.33
COADchr1731229274Missense_MutationNAA887T0.07
COADchr1731325942Missense_Mutationrs763413441R1653H0.19
COADchr17313742333'UTRnovel0.09
COADchr1731232840Missense_MutationNAL1152S0.39
COADchr1731219254Intronnovel0.38
COADchr1731230329Missense_MutationnovelE1020D0.07
COADchr1731327787Missense_MutationNAT1853A0.15
COADchr1731219102Missense_MutationNAA542D0.14
COADchr1731252778Intronnovel0.38
COADchr1731343031Missense_MutationNAA2362V0.27
COADchr1731350209Nonsense_Mutationrs786202457R2450*0.33
COADchr1731357308Nonsense_Mutationrs786201367R2637*0.34
COADchr1731360591SilentNAL2755L0.4
COADchr1731235964Missense_MutationNAR1306Q0.2
COADchr1731181736Silentrs745804540Y227Y0.24
COADchr1731252963Missense_MutationNAK1379T0.18
COADchr1731374149SilentNAI2838I0.18
COADchr1731359015Missense_MutationNAK2720N0.13
COADchr1731229232Missense_Mutationrs199474739R873C0.33
COADchr1731349214Frame_Shift_InsnovelF2429Qfs*70.17
COADchr1731249093Nonsense_Mutationrs137854560R1362*0.86
DLBCchr1731334908Frame_Shift_InsnovelH1962Pfs*20.23
DLBCchr1731201428Missense_MutationnovelN401K0.1
ESCAchr17313750133'UTRnovel0.22
ESCAchr1731232812Missense_MutationnovelH1143Y0.3
ESCAchr17313756203'UTRnovel0.1
ESCAchr17313750133'UTRnovel0.04
ESCAchr1731227285SilentnovelN773N0.57
ESCAchr1731200443Nonsense_Mutationrs786203950R304*0.35
ESCAchr1731326231Missense_MutationnovelK1749N0.22
ESCAchr1731343022Missense_MutationnovelV2359A0.82
ESCAchr1731229569Intronnovel0.27
ESCAchr17313750133'UTRnovel0.25
ESCAchr1731219074Missense_MutationnovelV533I0.42
ESCAchr17313750133'UTRnovel0.02
GBMchr1731229146Missense_Mutationrs137854566L844P0.34
GBMchr1731358479Splice_SitenovelX2657_splice0.49
GBMchr1731232119Missense_MutationnovelG1082C0.14
GBMchr1731181462Missense_MutationNAQ209H0.21
GBMchr1731181464Nonsense_MutationNAL210*0.21
GBMchr1731325958Frame_Shift_DelNAK1661Gfs*360.2
GBMchr1731163271Missense_Mutationrs149003051R125H0.37
GBMchr1731340510Frame_Shift_DelNAP2310Lfs*90.71
GBMchr1731352373Frame_Shift_DelnovelD2525Afs*230.14
GBMchr1731352375Frame_Shift_DelnovelM2526Wfs*220.14
GBMchr1731357370Splice_SitenovelX2657_splice0.27
GBMchr1731155995Missense_MutationnovelT25P0.09
GBMchr1731223502In_Frame_DelnovelT594_R601del0.17
GBMchr1731169985Nonsense_Mutationrs397514641R192*0.15
GBMchr1731225146Frame_Shift_DelnovelD633Ifs*550.13
GBMchr1731221889Missense_MutationNAW561R0.11
GBMchr1731182532Nonsense_MutationnovelL252*0.29
GBMchr1731214458Frame_Shift_DelnovelT467Nfs*60.18
GBMchr1731325958Frame_Shift_DelNAK1661Gfs*360.31
GBMchr1731350190Frame_Shift_InsnovelT2444Nfs*40.38
GBMchr1731336635Frame_Shift_InsnovelS2064Lfs*70.47
GBMchr1731169985Nonsense_Mutationrs397514641R192*0.22
GBMchr1731327659Frame_Shift_InsnovelT1811Hfs*80.34
GBMchr1731334880Nonsense_MutationNAW1952*0.65
GBMchr1731265245Missense_MutationnovelK1581Q0.25
GBMchr1731325998Missense_MutationNAD1672N0.28
GBMchr1731327498Splice_SitenovelX1757_splice0.19
GBMchr1731343010Missense_MutationnovelS2355N0.17
GBMchr1731350252Missense_MutationnovelT2464I0.41
GBMchr1731357336Missense_MutationnovelA2646V0.19
GBMchr1731336331Splice_SiteNAX2003_splice0.09
GBMchr1731258386Missense_MutationnovelG1406R0.13
GBMchr1731260383Missense_Mutationrs746994734I1482T0.24
GBMchr1731327775Missense_MutationNAD1849N0.3
GBMchr1731352348Nonsense_MutationNAR2517*0.82
GBMchr1731206286Nonsense_MutationNAS436*0.09
GBMchr1731338140Splice_SiteNAX2273_splice0.08
GBMchr1731249116Frame_Shift_DelnovelQ1370Rfs*80.09
GBMchr1731229463Nonsense_MutationNAQ950*0.26
GBMchr1731261733Nonsense_Mutationrs760703505R1534*0.31
GBMchr1731327673Nonsense_MutationNAQ1815*0.58
GBMchr1731200444Missense_Mutationrs76015786R304Q0.26
GBMchr1731229541Intronnovel0.09
GBMchr1731233135Silentrs201378351E1210E0.34
GBMchr1731235963Nonsense_MutationNAR1306*0.18
GBMchr1731230891Nonsense_MutationNAQ1055*0.49
GBMchr1731230318Nonsense_MutationNAQ1017*0.96
GBMchr1731229466Splice_SiteNAX950_splice0.36
GBMchr1731356572Frame_Shift_DelnovelY2577Mfs*470.39
GBMchr1731334984Nonsense_MutationNAQ1987*0.31
GBMchr1731340578Nonsense_MutationNAS2332*0.32
GBMchr1731326024Frame_Shift_InsnovelN1681Kfs*30.9
GBMchr1731325958Frame_Shift_DelNAK1661Gfs*360.21
GBMchr1731169985Nonsense_Mutationrs397514641R192*0.41
GBMchr1731206360Nonsense_MutationNAR461*0.09
GBMchr1731233115Frame_Shift_DelnovelR1204Gfs*110.25
GBMchr1731334927Nonsense_Mutationrs137854552R1968*0.27
GBMchr1731181760Nonsense_Mutationrs769048538Y235*0.43
GBMchr1731226564Missense_MutationnovelR711C0.12
GBMchr1731232186Missense_MutationNAL1104R0.42
GBMchr1731260486SilentNAE1516E0.07
GBMchr1731206360Nonsense_MutationNAR461*0.38
GBMchr1731225114Missense_MutationNAC622F0.4
GBMchr1731226621Missense_MutationnovelN730H0.05
GBMchr1731338790Frame_Shift_DelNAQ2302Hfs*170.33
GBMchr1731229145Missense_Mutationrs199474785L844F0.18
GBMchr1731340534Nonsense_MutationnovelW2317*0.34
HNSCchr1731200522Missense_MutationnovelA330V0.2
HNSCchr1731229255Silentrs786202443V880V0.25
HNSCchr1731338105Missense_MutationnovelG2262E0.35
HNSCchr1731221850Missense_MutationnovelA548S0.08
HNSCchr1731201484Missense_MutationnovelN420I0.61
HNSCchr1731232122Missense_MutationnovelL1083F0.15
HNSCchr1731259043Missense_MutationnovelS1448R0.22
HNSCchr1731357040Missense_MutationnovelE2607K0.34
HNSCchr1731163328Missense_MutationnovelS144F0.17
HNSCchr1731181712Splice_RegionnovelA219A0.21
HNSCchr17313741953'UTRnovel0.42
HNSCchr1731336688SilentnovelP2067P0.19
HNSCchr1731356505Missense_Mutationrs756138226P2554L0.16
HNSCchr1731336887Missense_MutationNAC2134R0.49
HNSCchr1731201423Nonsense_MutationNAQ400*0.43
HNSCchr1731221853SilentnovelL549L0.46
KICHchr1731326028Missense_MutationnovelC1682R0.45
KIRCchr1731229182Missense_MutationNAS856N0.29
KIRCchr1731337566Missense_MutationNAL2209S0.33
KIRCchr1731357004Missense_MutationNAK2595E0.26
KIRCchr1731229057SilentnovelK814K0.23
KIRCchr1731360552Nonsense_MutationnovelY2742*0.39
KIRCchr1731206285In_Frame_InsnovelS436delinsCSFKFYP0.08
KIRCchr1731360559Nonsense_MutationNAG2745*0.26
KIRCchr1731261734Frame_Shift_DelnovelR1534Hfs*400.38
KIRPchr1731156015Missense_MutationnovelH31Q0.42
KIRPchr1731360626Missense_MutationnovelQ2767R0.57
KIRPchr1731327724Missense_MutationnovelE1832K0.26
KIRPchr1731163370Frame_Shift_DelnovelS158Lfs*70.54
KIRPchr1731200504Missense_Mutationrs778890596C324S0.35
LAMLchr1731229140Missense_MutationnovelG842D0.16
LAMLchr1731235729Missense_Mutationrs137854556R1276Q0.06
LAMLchr1731226661Missense_MutationnovelS743F0.04
LAMLchr1731360688Missense_MutationnovelS2788P0.03
LAMLchr1731326010Missense_MutationnovelA1676S0.21
LAMLchr1731235623Nonsense_Mutationrs137854562R1241*0.06
LGGchr1731200508Frame_Shift_InsnovelL327Tfs*30.21
LGGchr1731223475Frame_Shift_DelnovelL585*0.25
LGGchr1731221883Frame_Shift_DelnovelD559Ifs*90.34
LGGchr1731336729Nonsense_MutationNAL2081*0.31
LGGchr1731357308Nonsense_Mutationrs786201367R2637*0.32
LGGchr1731249116Frame_Shift_DelnovelQ1370Rfs*80.19
LGGchr1731229967Frame_Shift_DelnovelL995Wfs*170.27
LGGchr1731350209Nonsense_Mutationrs786202457R2450*0.34
LGGchr1731338734Frame_Shift_DelNAY2285Tfs*50.81
LGGchr1731259093Missense_Mutationrs786202492N1465S0.13
LGGchr1731350209Nonsense_Mutationrs786202457R2450*0.2
LGGchr1731356965Frame_Shift_InsnovelR2583Efs*130.16
LGGchr1731235621Missense_MutationNAA1240G0.04
LGGchr1731235639Frame_Shift_DelNAF1247Ifs*180.78
LGGchr1731248983Splice_SiteNAX1325_splice0.54
LGGchr1731225198Nonsense_MutationNAL650*0.23
LGGchr1731235639Frame_Shift_DelNAF1247Ifs*180.27
LGGchr1731156042Frame_Shift_DelnovelE41Sfs*240.41
LGGchr1731181460Nonsense_Mutationrs786203448Q209*0.35
LGGchr1731181782Missense_MutationnovelA243T0.28
LGGchr1731227579SilentnovelY794Y0.08
LGGchr1731260469Missense_MutationnovelL1511F0.37
LGGchr1731159019Frame_Shift_DelnovelG72Efs*130.53
LGGchr1731229148Missense_MutationNAC845R0.9
LGGchr1731229204Nonsense_MutationnovelY863*0.38
LGGchr1731235639Frame_Shift_DelNAF1247Ifs*180.2
LGGchr1731340617Frame_Shift_DelnovelD2346Vfs*490.07
LGGchr1731181778Frame_Shift_InsnovelM242Nfs*30.22
LGGchr1731338139Splice_RegionNAK2273K0.42
LGGchr1731325956Frame_Shift_DelnovelL1659Sfs*390.18
LGGchr1731235989Nonsense_MutationNAW1314*0.42
LGGchr1731327498Splice_SitenovelX1757_splice0.96
LGGchr1731235639Frame_Shift_DelNAF1247Ifs*180.1
LGGchr1731327839Missense_Mutationrs786202112R1870Q0.21
LGGchr1731336332Splice_SiteNAX2003_splice0.09
LGGchr1731229851Missense_MutationnovelT956I0.15
LGGchr1731200552Frame_Shift_InsnovelV341Cfs*120.32
LGGchr1731357004Nonsense_MutationnovelK2595*0.2
LGGchr1731219018Frame_Shift_Delrs267606600Q514Rfs*430.44
LGGchr1731325958Frame_Shift_DelNAK1661Gfs*360.06
LGGchr1731343137Splice_SiteNAX2397_splice0.12
LIHCchr1731227585Missense_MutationNAK796N0.13
LIHCchr1731169936Silentrs750358089H175H0.33
LIHCchr1731265276Missense_MutationNAS1591N0.38
LIHCchr1731233072Missense_MutationnovelQ1189H0.46
LIHCchr1731219235Intronnovel0.44
LIHCchr1731259100Missense_MutationnovelF1467L0.04
LIHCchr1731330454In_Frame_DelnovelT1923_L1927delinsM0.29
LIHCchr1731260370Frame_Shift_DelNAF1479Sfs*40.29
LIHCchr1731226676Missense_MutationNAM748R0.42
LIHCchr1731261763Missense_MutationnovelA1544T0.29
LIHCchr1731249120Splice_SiteNAX1370_splice0.3
LIHCchr1731327637Missense_Mutationrs559910904I1803V0.53
LIHCchr1731214494Frame_Shift_DelnovelK480Nfs*180.5
LIHCchr1731265300Missense_MutationNAS1599Y0.06
LIHCchr1731330475Frame_Shift_InsnovelI1931Lfs*120.07
LUADchr1731235747Missense_MutationNAS1282I0.6
LUADchr1731326002Missense_MutationNAN1673S0.25
LUADchr1731223514Nonsense_MutationnovelK598*0.73
LUADchr1731230260Missense_MutationNAR997S0.12
LUADchr1731259088Frame_Shift_DelnovelF1464Sfs*50.41
LUADchr1731330500Splice_SiteNAX1938_splice0.52
LUADchr1731327496Splice_Regionnovel0.28
LUADchr1731350281Missense_MutationnovelD2474N0.1
LUADchr1731200484Frame_Shift_DelNAE318Kfs*110.07
LUADchr1731357370Splice_SitenovelX2657_splice0.09
LUADchr1731227572Missense_MutationNAL792H0.51
LUADchr1731337851Nonsense_MutationNAW2225*0.18
LUADchr1731214524Missense_Mutationrs137854557Y489C0.29
LUADchr17313741923'UTRnovel0.24
LUADchr1731248983Splice_SitenovelX1325_splice0.57
LUADchr1731334876Frame_Shift_DelNAP1951Hfs*60.17
LUADchr1731200468Missense_MutationNAG312A0.36
LUADchr1731226557SilentnovelS708S0.08
LUADchr1731214539Nonsense_MutationNAL494*0.37
LUADchr1731330469Frame_Shift_DelnovelE1929Sfs*130.24
LUADchr1731330470Missense_MutationnovelE1928D0.25
LUADchr1731163300Frame_Shift_DelnovelR135Ifs*290.45
LUADchr1731232863Frame_Shift_DelnovelG1160Vfs*60.31
LUADchr1731327646Nonsense_MutationNAQ1806*0.33
LUADchr1731221865Missense_MutationNAH553Y0.79
LUADchr1731201156Silentrs786202581F394F0.17
LUADchr1731235916Splice_SitenovelX1291_splice0.21
LUADchr1731336427Missense_MutationNAT2034I0.23
LUADchr1731330331Missense_MutationNAC1882Y0.38
LUADchr17313742573'UTRnovel0.13
LUADchr17313742593'UTRnovel0.13
LUADchr1731232699Splice_SitenovelX1105_splice0.34
LUADchr1731249085Frame_Shift_InsnovelQ1360Sfs*200.19
LUADchr1731330331Missense_MutationNAC1882F0.43
LUADchr1731330333Missense_MutationnovelT1883P0.43
LUADchr1731350305Missense_MutationNAD2482N0.18
LUADchr1731235617SilentnovelL1239L0.11
LUADchr1731327673Nonsense_MutationNAQ1815*0.09
LUADchr1731335017Nonsense_MutationnovelG1998*0.08
LUADchr1731336672Missense_MutationnovelC2062S0.21
LUADchr1731325835Missense_MutationnovelQ1617H0.28
LUADchr1731343015Nonsense_MutationNAE2357*0.25
LUADchr1731336751SilentNAL2088L0.16
LUADchr1731163273Nonsense_MutationNAE126*0.28
LUADchr1731226684Nonsense_MutationNAG751*0.62
LUADchr1731232863Missense_Mutationrs786202815G1160C0.13
LUADchr1731337503Missense_MutationNAS2188F0.96
LUADchr1731159046Missense_MutationNAL81V0.14
LUADchr1731325914Missense_MutationnovelD1644Y0.55
LUADchr1731201409Splice_SiteNAX396_splice0.41
LUADchr1731337528Frame_Shift_DelNAF2197Cfs*440.25
LUADchr1731336874Silentrs786203078I2129I0.06
LUADchr1731229451Missense_MutationnovelD946Y0.14
LUADchr1731374114Missense_MutationnovelA2827P0.28
LUADchr1731325987Missense_MutationNAG1668V0.25
LUADchr1731340505Frame_Shift_DelnovelD2308Afs*170.5
LUADchr1731229356Missense_MutationNAR914L0.26
LUADchr1731327840Splice_SiteNAX1870_splice0.62
LUADchr1731327723Frame_Shift_InsnovelE1832*0.19
LUADchr1731334864Nonsense_Mutationrs587782088E1947*0.2
LUADchr1731235703Frame_Shift_DelnovelA1268Qfs*170.22
LUADchr1731352412Frame_Shift_DelnovelG2539Efs*90.27
LUADchr1731338703Splice_SiteNAX2274_splice0.21
LUADchr1731221848Splice_SiteNAX548_splice0.46
LUADchr1731223443Splice_SitenovelX574_splice0.21
LUADchr1731233129Missense_MutationNAL1208F0.23
LUADchr1731340586Missense_MutationNAT2335P0.65
LUADchr1731336396Nonsense_MutationNAG2024*0.11
LUADchr1731358968Splice_SitenovelX2705_splice0.14
LUADchr1731358969Missense_MutationnovelS2705I0.14
LUADchr1731343135Missense_MutationnovelG2397W0.28
LUADchr1731327674Missense_MutationNAQ1815L0.35
LUADchr1731337490Missense_MutationNAD2184N0.16
LUADchr1731229777Intronnovel0.11
LUADchr1731229934Missense_MutationnovelG984W0.12
LUADchr1731338737Nonsense_MutationnovelY2285*0.14
LUADchr1731229130Missense_MutationnovelN839Y0.21
LUADchr1731349191Frame_Shift_DelnovelN2421Tfs*110.39
LUADchr1731225157Frame_Shift_DelnovelS637Vfs*510.23
LUADchr1731337459SilentNAA2173A0.19
LUADchr1731226437Splice_RegionNAD668D0.39
LUADchr1731258400Frame_Shift_DelnovelL1411Sfs*170.08
LUSCchr1731343007Splice_SiteNAX2355_splice0.55
LUSCchr1731235947SilentnovelL1300L0.07
LUSCchr1731229967SilentnovelL995L0.16
LUSCchr1731229229Nonsense_MutationnovelE872*0.66
LUSCchr1731227522Splice_SiteNAX776_splice0.39
LUSCchr1731159050Missense_MutationNAS82C0.09
LUSCchr1731358510SilentNAT2667T0.21
LUSCchr1731358512Missense_MutationNAL2668Q0.21
LUSCchr1731206372Splice_SiteNAX464_splice0.42
LUSCchr1731327676Nonsense_MutationnovelE1816*0.11
LUSCchr1731336808Frame_Shift_InsnovelT2108Nfs*120.17
LUSCchr1731225101Missense_MutationnovelD618N0.49
LUSCchr1731350233Nonsense_MutationnovelR2458*0.92
LUSCchr1731340574Missense_MutationnovelY2331H0.67
LUSCchr1731337867Nonsense_MutationNAE2231*0.7
LUSCchr1731181458Missense_MutationnovelA208E0.13
LUSCchr1731357036Missense_MutationNAL2605F0.17
LUSCchr1731334931Frame_Shift_DelnovelR1970Sfs*60.56
LUSCchr1731221863Missense_MutationnovelL552R0.49
LUSCchr1731374101Missense_MutationNAQ2822H0.18
LUSCchr1731337401Frame_Shift_DelnovelE2155Vfs*40.19
LUSCchr1731182549Nonsense_MutationNAE258*0.23
LUSCchr1731335027Missense_MutationnovelG2001V0.36
LUSCchr1731200540Nonsense_MutationNAW336*0.37
LUSCchr1731221904Missense_MutationNAP566A0.07
LUSCchr1731327543Missense_MutationnovelK1771N0.3
LUSCchr1731201423Nonsense_MutationNAQ400*0.23
LUSCchr1731163270Missense_MutationnovelR125C0.11
LUSCchr1731337476Missense_Mutationrs772639479R2179L0.22
LUSCchr1731219148Intronnovel0.35
LUSCchr1731334966Missense_Mutationrs762935987M1981V0.3
LUSCchr1731156096SilentNAL58L0.21
LUSCchr1731214524Missense_Mutationrs137854557Y489C0.33
LUSCchr1731327648Frame_Shift_DelnovelG1807Afs*560.68
LUSCchr1731214502Missense_Mutationrs770201871T482A0.35
LUSCchr1731349247Missense_MutationNAL2439F0.37
LUSCchr1731156049SilentnovelL43L0.34
LUSCchr1731232713Missense_MutationnovelF1110V0.23
LUSCchr1731260379Missense_MutationNAD1481H0.04
LUSCchr1731334853Frame_Shift_DelnovelH1943Rfs*170.12
LUSCchr1731233157Nonsense_MutationNAQ1218*0.36
LUSCchr1731229518Intronnovel0.27
LUSCchr1731327821Missense_MutationnovelS1864I0.19
LUSCchr1731258468In_Frame_DelnovelP1433_M1442delinsL0.2
LUSCchr1731229382Missense_MutationNAL923V0.42
LUSCchr1731265317Missense_Mutationrs199474766I1605V0.12
LUSCchr1731169954Missense_MutationNAQ181H0.15
LUSCchr1731357278Missense_MutationnovelV2627L0.42
LUSCchr1731338739Nonsense_Mutationrs772295894Y2285*0.13
LUSCchr1731235648Frame_Shift_DelnovelR1250Lfs*100.15
LUSCchr1731229327Nonsense_MutationNAC904*0.61
LUSCchr1731352349Missense_MutationnovelR2517L0.47
LUSCchr1731259122Missense_MutationnovelA1475T0.25
LUSCchr1731356561Missense_MutationnovelA2573S0.46
LUSCchr1731156031Nonsense_MutationnovelE37*0.09
LUSCchr1731159076Nonsense_MutationnovelE91*0.61
LUSCchr1731200565Silentrs199832006L344L0.4
LUSCchr1731326185Missense_MutationNAE1734V0.44
LUSCchr1731336914Frame_Shift_Delnovel0.27
LUSCchr1731226459Frame_Shift_Insrs780157990I679Dfs*210.48
LUSCchr1731330351Nonsense_MutationNAE1889*0.43
LUSCchr1731163323SilentnovelL142L0.36
LUSCchr1731357294Missense_MutationNAD2632V0.5
LUSCchr1731326009Silentrs17878418S1675S0.18
LUSCchr1731229040Missense_MutationnovelH809N0.26
LUSCchr1731352273Nonsense_MutationNAQ2492*0.04
LUSCchr1731229859Nonsense_MutationNAQ959*0.22
MESOchr17313741983'UTRnovel0.2
OVchr1731229063Frame_Shift_DelnovelM817Cfs*40.76
OVchr1731214515Frame_Shift_DelnovelR487Wfs*20.04
OVchr1731334870Frame_Shift_DelNAM1949Ifs*20.67
OVchr1731336771Frame_Shift_InsNAV2096Cfs*240.79
OVchr1731374082Missense_MutationnovelG2816A0.39
OVchr1731163231Nonsense_MutationNAQ112*0.77
OVchr1731338092Nonsense_MutationNAR2258*0.64
OVchr1731226572SilentnovelL713L0.05
OVchr1731159057Frame_Shift_DelNAI85Kfs*120.58
OVchr1731326172Missense_MutationNAT1730P0.38
OVchr1731232859Frame_Shift_DelNAS1159Tfs*30.22
OVchr1731258500Missense_Mutationrs137854550K1444E0.76
OVchr1731159042Frame_Shift_InsNAY80Lfs*270.91
OVchr1731230318Nonsense_MutationNAQ1017*0.63
OVchr1731221857Missense_MutationNAL550P0.46
OVchr1731182507Splice_SiteNAX244_splice0.39
OVchr1731327802Missense_Mutationrs786203416A1858T0.59
OVchr1731159045Frame_Shift_DelnovelQ83*0.44
OVchr1731259032Frame_Shift_DelNAI1445Sfs*200.88
OVchr1731169992Missense_MutationNAL194P0.6
OVchr1731343008Splice_SiteNAX2355_splice0.21
OVchr1731260344Splice_SiteNAX1477_splice0.13
OVchr1731249116Nonsense_MutationNAY1369*0.24
OVchr1731337580Nonsense_MutationNAE2214*0.87
OVchr1731327587Nonsense_MutationNAS1786*0.55
OVchr1731214456Frame_Shift_Insrs778963145T467Nfs*30.61
OVchr1731265251Nonsense_MutationNAE1583*0.77
OVchr1731156102Splice_SitenovelX62_splice0.89
OVchr1731229118Nonsense_MutationnovelQ835*0.33
OVchr1731327818Missense_MutationNAG1863A0.69
OVchr1731206365Frame_Shift_DelnovelA463Hfs*100.71
OVchr1731230314Frame_Shift_DelnovelC1016Vfs*30.76
PAADchr1731249071SilentnovelS1354S0.03
PAADchr1731338100SilentnovelS2260S0.08
PAADchr1731159031Frame_Shift_InsnovelN78Kfs*290.08
PAADchr1731334897Missense_MutationNAR1958C0.17
PAADchr1731334939Missense_MutationnovelT1972A0.2
PAADchr1731229960Missense_MutationnovelM992I0.32
PCPGchr1731230280Frame_Shift_DelnovelN1004Ifs*30.15
PCPGchr1731225196Frame_Shift_InsnovelL650Vfs*200.79
PCPGchr1731349156Frame_Shift_DelnovelV2410Efs*70.78
PCPGchr1731340509Frame_Shift_DelnovelP2310Sfs*160.48
PCPGchr1731249044Frame_Shift_DelnovelF1346Sfs*270.29
PCPGchr1731330320Nonsense_MutationnovelC1878*0.36
PCPGchr1731169975Frame_Shift_DelnovelK189Nfs*20.63
PCPGchr1731326245Frame_Shift_DelnovelS1754Lfs*110.88
PCPGchr1731214586Splice_SiteNAX509_splice0.71
PCPGchr1731229974Missense_MutationnovelR997T0.77
PCPGchr1731201463Nonsense_MutationnovelS413*0.45
PCPGchr1731206263Frame_Shift_DelnovelK428Nfs*410.7
PCPGchr1731223422Splice_SitenovelX574_splice0.67
PCPGchr1731214530Frame_Shift_InsnovelL492Ffs*70.64
PCPGchr1731261725Frame_Shift_DelnovelG1532Efs*420.69
PCPGchr1731227547Missense_MutationnovelW784R0.43
PCPGchr1731201423Nonsense_MutationNAQ400*0.78
PCPGchr1731229233Frame_Shift_InsnovelK874*0.74
PRADchr1731163345Frame_Shift_DelnovelF150Sfs*150.2
PRADchr1731336456Missense_MutationnovelK2044E0.11
READchr1731169986Missense_Mutationrs587781670R192Q0.28
READchr1731206298Missense_MutationNAR440Q0.28
READchr1731230308SilentNAT1013T0.2
READchr1731230308SilentNAT1013T0.12
READchr1731229505Intronnovel0.05
READchr1731330331Missense_MutationNAC1882Y0.08
READchr1731235757Missense_MutationNAM1285I0.15
READchr1731229873Missense_MutationNAQ963H0.11
READchr1731182507Splice_SiteNAX244_splice0.42
READchr1731206297Nonsense_Mutationrs778405030R440*0.39
READchr1731206298Missense_MutationNAR440Q0.41
READchr1731261722Missense_MutationnovelA1530D0.35
READchr1731265325Nonsense_MutationnovelY1607*0.39
READchr1731357043Nonsense_MutationnovelE2608*0.09
READchr1731327587Missense_MutationNAS1786L0.38
READchr1731325879Missense_MutationnovelK1632T0.15
READchr1731343046Missense_MutationNAL2367Q0.53
SARCchr1731214569Frame_Shift_InsnovelL506Afs*50.2
SARCchr1731200452Frame_Shift_InsnovelA308Cfs*70.96
SARCchr1731340592Frame_Shift_DelnovelL2337Ffs*90.88
SARCchr1731340594In_Frame_DelnovelE2339_L2345del0.81
SARCchr1731233015Missense_MutationnovelH1170Q0.1
SARCchr1731337795Splice_SitenovelX2215_splice0.69
SARCchr17313750133'UTRnovel0.04
SARCchr17313750133'UTRnovel0.02
SARCchr1731249093Nonsense_Mutationrs137854560R1362*0.27
SARCchr1731226517Frame_Shift_DelnovelL695Rfs*80.41
SARCchr17313750133'UTRnovel0.09
SARCchr1731226460Frame_Shift_Delrs747195556P678Rfs*100.77
SARCchr17313750133'UTRnovel0.24
SARCchr17313772283'UTRnovel0.85
SARCchr1731225126Frame_Shift_DelnovelY628Tfs*30.22
SARCchr1731261822SilentnovelN1563N0.32
SARCchr1731261823Missense_MutationnovelL1564F0.32
SARCchr1731226684Missense_MutationnovelG751R0.48
SARCchr17313750133'UTRnovel0.12
SARCchr1731343070Frame_Shift_DelnovelD2375Efs*30.21
SKCMchr1731327839Missense_Mutationrs786202112R1870Q0.59
SKCMchr1731327840Splice_SiteNAX1870_splice0.61
SKCMchr1731338035Nonsense_MutationNAQ2239*0.59
SKCMchr1731260375SilentnovelF1479F0.13
SKCMchr1731229456SilentNAS947S0.32
SKCMchr1731232725Missense_MutationNAL1114M0.29
SKCMchr1731258353Nonsense_MutationnovelQ1395*0.36
SKCMchr1731326174SilentnovelT1730T0.38
SKCMchr1731206297Nonsense_Mutationrs778405030R440*0.41
SKCMchr1731219032Nonsense_MutationNAQ519*0.2
SKCMchr1731338004Intronnovel0.21
SKCMchr1731357031Missense_MutationNAL2604F0.54
SKCMchr1731352286Missense_MutationNAS2496F0.06
SKCMchr1731357059Missense_Mutationrs750972729P2613L0.21
SKCMchr1731227548Nonsense_MutationNAW784*0.14
SKCMchr1731227549Nonsense_MutationnovelW784*0.15
SKCMchr1731159009Splice_SiteNAX69_splice0.28
SKCMchr1731182597Missense_MutationNAL274F0.49
SKCMchr1731201444Missense_MutationnovelH407Y0.27
SKCMchr1731227232Nonsense_MutationNAQ756*0.49
SKCMchr1731338805Splice_RegionNAK2307K0.24
SKCMchr1731352362SilentnovelS2521S0.24
SKCMchr1731182621Nonsense_MutationNAQ282*0.32
SKCMchr1731226520Nonsense_MutationNAW696*0.28
SKCMchr1731249093Nonsense_Mutationrs137854560R1362*0.37
SKCMchr1731226483Nonsense_MutationNAQ684*0.38
SKCMchr1731265300Missense_MutationNAS1599F0.51
SKCMchr1731226483Nonsense_MutationNAQ684*0.28
SKCMchr1731327673Nonsense_MutationNAQ1815*0.24
SKCMchr1731200572Nonsense_MutationNAQ347*0.38
SKCMchr1731221849Splice_SiteNAX548_splice0.17
SKCMchr1731229401Missense_MutationNAL929P0.55
SKCMchr1731229113Missense_MutationNAS833F0.65
SKCMchr1731325970Nonsense_MutationNAW1662*0.18
SKCMchr1731327487Splice_SitenovelX1757_splice0.6
SKCMchr1731200464Nonsense_MutationNAG311*0.91
SKCMchr1731206297Nonsense_Mutationrs778405030R440*0.52
SKCMchr1731343008Splice_SitenovelX2355_splice0.16
SKCMchr1731360664Missense_MutationnovelN2780D0.22
SKCMchr1731206297Nonsense_Mutationrs778405030R440*0.91
SKCMchr1731352348Nonsense_MutationNAR2517*0.47
SKCMchr1731233199Missense_MutationNAP1232A0.28
SKCMchr1731335016Nonsense_MutationNAW1997*0.37
SKCMchr1731338739Nonsense_Mutationrs772295894Y2285*0.2
SKCMchr1731229145Missense_Mutationrs199474785L844F0.49
SKCMchr1731327839Missense_Mutationrs786202112R1870Q0.35
SKCMchr1731327840Splice_SiteNAX1870_splice0.34
SKCMchr1731201116Frame_Shift_DelnovelC383Yfs*100.5
SKCMchr1731356959Splice_SiteNAX2580_splice0.44
SKCMchr1731334880Nonsense_MutationNAW1952*0.73
SKCMchr1731233063SilentnovelI1186I0.32
SKCMchr1731159045Nonsense_MutationNAY80*0.19
SKCMchr1731229465Splice_RegionNAQ950Q0.29
SKCMchr1731235729Missense_Mutationrs137854556R1276Q0.08
SKCMchr1731327781Missense_Mutationrs267604793P1851S0.12
SKCMchr1731229115SilentNAL834L0.33
SKCMchr1731334986Silentrs757536610Q1987Q0.46
SKCMchr1731225188Missense_Mutationrs776251084H647Y0.24
SKCMchr1731229145Missense_Mutationrs199474785L844F0.66
SKCMchr1731358492SilentNAL2661L0.18
SKCMchr1731325859Nonsense_MutationNAY1625*0.51
SKCMchr1731232830Missense_MutationnovelM1149V0.25
SKCMchr1731235676Nonsense_MutationNAW1258*0.88
SKCMchr1731338035Nonsense_MutationNAQ2239*0.47
SKCMchr1731258343Splice_SitenovelX1392_splice0.23
SKCMchr1731337403Frame_Shift_DelnovelE2155Sfs*450.21
SKCMchr1731229407Missense_MutationNAP931L0.55
SKCMchr1731229172Nonsense_MutationNAQ853*0.7
SKCMchr1731223533Nonsense_MutationNAL604*0.33
SKCMchr1731156068Missense_MutationnovelY49F0.29
SKCMchr1731156069SilentnovelY49Y0.31
SKCMchr1731225134Missense_Mutationrs199474738G629R1
SKCMchr1731226576Nonsense_MutationnovelE715*0.14
SKCMchr1731259071Missense_MutationnovelE1458K0.38
SKCMchr1731230308SilentNAT1013T0.27
SKCMchr1731233006Frame_Shift_DelnovelY1169Sfs*220.87
SKCMchr1731374149SilentNAI2838I0.31
SKCMchr1731327780SilentnovelV1850V0.44
SKCMchr1731326245Missense_MutationNAS1754F0.22
SKCMchr1731327702SilentNAI1824I0.23
SKCMchr1731235723Missense_MutationNAL1274H0.49
SKCMchr1731360587Missense_MutationNAS2754F0.07
SKCMchr1731260397Missense_MutationNAP1487S0.43
SKCMchr1731352286Missense_MutationNAS2496F0.18
SKCMchr1731206297Nonsense_Mutationrs778405030R440*0.27
SKCMchr1731235948SilentNAL1301L0.3
SKCMchr1731327694Nonsense_MutationNAQ1822*0.45
SKCMchr1731325983Missense_MutationnovelP1667S0.26
SKCMchr1731235623Nonsense_Mutationrs137854562R1241*0.16
SKCMchr1731357017Missense_MutationNAS2599F0.12
SKCMchr1731226456Missense_MutationnovelG675R0.31
SKCMchr1731226524Frame_Shift_DelnovelP698Lfs*500.76
SKCMchr1731336915Splice_SitenovelX2143_splice0.48
SKCMchr1731230891Nonsense_MutationNAQ1055*0.21
SKCMchr1731226459Frame_Shift_Insrs780157990I679Dfs*210.89
SKCMchr1731337366Splice_SiteNAX2143_splice0.58
SKCMchr1731200540Nonsense_MutationNAW336*0.29
SKCMchr1731200541Nonsense_MutationNAW336*0.29
SKCMchr1731350266Nonsense_MutationnovelE2469*0.45
SKCMchr1731182621Nonsense_MutationNAQ282*0.23
SKCMchr1731232083Nonsense_Mutationrs786202023Q1070*0.25
SKCMchr1731214531Nonsense_MutationnovelY491*0.69
SKCMchr1731214532Missense_MutationnovelL492I0.69
SKCMchr1731338124SilentNAI2268I0.37
SKCMchr1731358532Missense_MutationNAP2675S0.27
SKCMchr1731163282Nonsense_MutationnovelQ129*0.74
SKCMchr1731159093Splice_RegionNAG96G0.37
SKCMchr1731206297Nonsense_Mutationrs778405030R440*0.38
SKCMchr1731352415Splice_SiteNAX2539_splice0.42
SKCMchr1731226526Missense_MutationNAP698L0.26
SKCMchr1731200552Frame_Shift_InsnovelV341Cfs*120.39
STADchr1731182616Missense_MutationNAI280T0.32
STADchr1731159039Frame_Shift_DelnovelL79Yfs*60.25
STADchr1731225133Silentrs555635097Y628Y0.17
STADchr1731330360Missense_MutationNAL1892V0.45
STADchr1731360518In_Frame_DelnovelV2732del0.28
STADchr1731327684SilentNAE1818E0.24
STADchr1731327757In_Frame_DelnovelT1843_K1844del0.13
STADchr1731350226Frame_Shift_DelnovelK2456Nfs*330.16
STADchr1731229062In_Frame_DelnovelR816_S818delinsP0.09
STADchr1731226459Frame_Shift_Insrs780157990I679Dfs*210.69
STADchr1731206360Nonsense_MutationNAR461*0.46
STADchr1731358526Nonsense_MutationNAQ2673*0.36
STADchr1731360670Missense_MutationNAM2782V0.29
STADchr1731229974Missense_MutationNAR997M0.24
STADchr1731357280Frame_Shift_DelnovelK2628Nfs*160.38
STADchr1731214463Missense_MutationNAK469Q0.44
STADchr1731358977Missense_MutationNAF2708V0.31
STADchr1731229200Missense_MutationnovelT862I0.16
STADchr1731260368Splice_SitenovelX1477_splice0.14
STADchr1731337476Missense_MutationnovelR2179H0.06
STADchr1731326174SilentNAT1730T0.06
STADchr1731327675SilentnovelQ1815Q0.49
STADchr1731219155Intronnovel0.13
STADchr1731349211SilentnovelD2427D0.15
STADchr1731336461Missense_MutationnovelL2045F0.33
STADchr1731335022SilentNAS1999S0.15
STADchr1731338126Missense_Mutationrs562367786R2269H0.34
STADchr1731338000Intronnovel0.1
STADchr1731229355Missense_Mutationrs765848298R914W0.16
STADchr1731169985Nonsense_Mutationrs397514641R192*0.38
STADchr1731229357SilentNAR914R0.07
STADchr1731350267Frame_Shift_DelnovelN2470Mfs*190.31
STADchr1731233156Missense_MutationnovelD1217E0.13
STADchr1731235664Nonsense_MutationnovelY1254*0.56
STADchr1731337557Missense_MutationnovelT2206R0.5
STADchr1731206298Missense_MutationnovelR440P0.17
STADchr1731260381Missense_MutationNAD1481E0.33
STADchr1731265317Frame_Shift_InsnovelY1607Lfs*150.3
STADchr1731327839Missense_Mutationrs786202112R1870Q0.16
STADchr1731223535Missense_MutationNAI605F0.13
STADchr17313742333'UTRnovel0.29
STADchr1731201472Missense_MutationnovelR416Q0.38
STADchr1731350300Missense_Mutationrs371151718H2480R0.16
STADchr1731223496Missense_MutationNAS592G0.23
STADchr1731232856SilentNAV1157V0.1
STADchr1731374105Nonsense_MutationNAQ2824*0.23
STADchr1731181474Frame_Shift_DelnovelN214*0.53
STADchr1731225225Missense_Mutationrs151138158R659Q0.06
STADchr1731225126Frame_Shift_DelnovelY628Tfs*30.24
STADchr1731230874Missense_MutationnovelV1049A0.15
STADchr1731249057Missense_MutationNAI1350V0.45
STADchr1731326010Missense_Mutationrs756450772A1676T0.53
STADchr17313742333'UTRnovel0.5
TGCTchr1731200552Missense_Mutationrs771089333S340C0.27
TGCTchr1731169921SilentnovelD170D0.12
TGCTchr1731159032Frame_Shift_DelnovelN78Ffs*280.17
THCAchr1731219156Intronnovel0.54
THYMchr17313750133'UTRnovel0.09
THYMchr1731350265Missense_MutationnovelM2468I0.17
THYMchr1731350266Nonsense_MutationnovelE2469*0.17
THYMchr17313750133'UTRnovel0.1
THYMchr1731356562Missense_MutationnovelA2573G0.07
THYMchr17313750133'UTRnovel0.03
THYMchr17313750133'UTRnovel0.08
THYMchr1731358571Missense_MutationnovelV2688M0.55
UCECchr1731159031Frame_Shift_InsnovelN78Kfs*290.57
UCECchr1731206297Nonsense_Mutationrs778405030R440*0.35
UCECchr1731350209Nonsense_Mutationrs786202457R2450*0.36
UCECchr1731214577Missense_MutationNAL507V0.28
UCECchr1731337409Missense_MutationNAS2157P0.28
UCECchr1731360529Missense_MutationNAL2735I0.33
UCECchr1731219076SilentnovelV533V0.47
UCECchr1731232098Missense_MutationnovelA1075S0.09
UCECchr1731340503Splice_SitenovelX2308_splice0.11
UCECchr1731357071Missense_Mutationrs375990655A2617V0.35
UCECchr1731337503Missense_MutationNAS2188F0.27
UCECchr1731235706SilentnovelA1268A0.41
UCECchr1731326113Missense_MutationnovelD1710G0.47
UCECchr1731337867Nonsense_MutationNAE2231*0.29
UCECchr1731356513Nonsense_MutationnovelQ2557*0.4
UCECchr17313745923'UTRnovel0.31
UCECchr17313750293'UTRnovel0.24
UCECchr1731229585Intronnovel0.37
UCECchr1731159022Nonsense_MutationNAE73*0.42
UCECchr1731221936Splice_RegionNA0.36
UCECchr1731327739Missense_Mutationrs771597781D1837N0.14
UCECchr1731330312Missense_MutationNAL1876I0.41
UCECchr1731327824Missense_MutationnovelS1865Y0.25
UCECchr1731214481Missense_MutationnovelL475I0.33
UCECchr17313749123'UTRnovel0.63
UCECchr17313771773'UTRnovel0.48
UCECchr1731229130Missense_Mutationrs755956826N839D0.34
UCECchr1731169961Missense_MutationnovelN184D0.42
UCECchr1731182516Nonsense_MutationnovelE247*0.38
UCECchr1731226437Splice_RegionNAD668D0.32
UCECchr1731336764Missense_MutationnovelS2093A0.42
UCECchr1731229152Missense_MutationnovelA846D0.33
UCECchr17313774503'UTRrs98440.44
UCECchr1731156055Missense_MutationnovelN45D0.33
UCECchr1731206355Missense_MutationnovelA459V0.48
UCECchr1731334891SilentnovelL1956L0.48
UCECchr1731360668Missense_MutationnovelS2781F0.36
UCECchr17313771773'UTRnovel0.41
UCECchr1731201128Missense_MutationnovelR385H0.2
UCECchr1731249093Nonsense_Mutationrs137854560R1362*0.32
UCECchr1731258475Silentrs779865988I1435I0.24
UCECchr1731350209Nonsense_Mutationrs786202457R2450*0.15
UCECchr1731206360Nonsense_MutationNAR461*0.41
UCECchr1731249093Nonsense_Mutationrs137854560R1362*0.37
UCECchr1731357314Missense_MutationnovelL2639I0.3
UCECchr1731206361Missense_MutationNAR461Q0.29
UCECchr1731229717Intronnovel0.18
UCECchr1731374081Missense_Mutationrs778233452G2816R0.44
UCECchr17313747373'UTRnovel0.26
UCECchr1731163364Missense_Mutationrs754096545R156H0.25
UCECchr1731181482Missense_Mutationrs199474756L216P0.21
UCECchr1731233081Missense_MutationNAE1192D0.11
UCECchr1731258376SilentNAI1402I0.34
UCECchr1731349169SilentNAL2413L0.22
UCECchr1731350209Nonsense_Mutationrs786202457R2450*0.25
UCECchr1731230279Missense_MutationnovelN1004D0.2
UCECchr1731235964Missense_MutationNAR1306Q0.22
UCECchr1731340628Missense_Mutationrs56013763R2349C0.21
UCECchr1731235932SilentnovelT1295T0.24
UCECchr1731330329SilentNAT1881T0.41
UCECchr17313771773'UTRnovel0.45
UCECchr1731357071Missense_Mutationrs375990655A2617V0.2
UCECchr17313747383'UTRnovel0.52
UCECchr1731219031SilentnovelT518T0.46
UCECchr1731229422Missense_MutationnovelK936T0.41
UCECchr17313752393'UTRnovel0.4
UCECchr17310950535'UTRnovel0.4
UCECchr1731258475Silentrs779865988I1435I0.1
UCECchr1731265251Nonsense_MutationNAE1583*0.13
UCECchr1731337423Missense_MutationnovelF2161L0.46
UCECchr1731338113Missense_MutationnovelK2265Q0.15
UCECchr17313773323'UTRnovel0.1
UCECchr1731200588Missense_MutationnovelD352G0.19
UCECchr1731350184Splice_RegionnovelA2441A0.24
UCECchr1731356459Splice_SitenovelX2539_splice0.28
UCECchr1731357275SilentnovelL2626L0.25
UCECchr17313758733'UTRnovel0.08
UCECchr17313747383'UTRnovel0.34
UCECchr1731159032Frame_Shift_DelNAN78Ifs*70.62
UCECchr1731169999Splice_SiteNAX196_splice0.5
UCECchr1731249079Frame_Shift_InsnovelQ1360Sfs*200.48
UCECchr1731200571SilentnovelV346V0.39
UCECchr17313818853'Flankrs7559463750.28
UCECchr17313746533'UTRnovel0.44
UCECchr1731235692Nonsense_MutationNAE1264*0.39
UCECchr1731327739Missense_Mutationrs771597781D1837N0.09
UCECchr1731350209Nonsense_Mutationrs786202457R2450*0.42
UCECchr1731327609SilentnovelL1793L0.5
UCECchr1731350209Nonsense_Mutationrs786202457R2450*0.39
UCECchr1731357320Nonsense_MutationnovelE2641*0.32
UCECchr17313741593'UTRnovel0.4
UCECchr1731163364Missense_Mutationrs754096545R156H0.43
UCECchr1731229650Intronnovel0.42
UCECchr1731229817Intronnovel0.39
UCECchr1731232780Missense_Mutationrs778920556R1132H0.44
UCECchr1731249093Nonsense_Mutationrs137854560R1362*0.51
UCECchr1731337823Missense_MutationnovelC2216Y0.45
UCECchr1731222001Intronnovel0.27
UCECchr1731206239Splice_SitenovelX421_splice0.55
UCECchr1731219047Nonsense_MutationnovelE524*0.53
UCECchr1731326184Nonsense_MutationNAE1734*0.44
UCECchr1731327565Silentrs770078684L1779L0.34
UCECchr1731336810Missense_MutationnovelT2108N0.48
UCECchr1731338758Nonsense_MutationnovelE2292*0.41
UCECchr1731350209Nonsense_Mutationrs786202457R2450*0.42
UCECchr17313773323'UTRnovel0.39
UCECchr17313753713'UTRnovel0.13
UCECchr17313750273'UTRnovel0.31
UCECchr17313773443'UTRrs5483534950.44
UCECchr17313746533'UTRnovel0.37
UCECchr17313752883'UTRnovel0.45
UCECchr17313758933'UTRnovel0.8
UCECchr1731327818Missense_MutationnovelG1863D0.71
UCECchr1731225126Frame_Shift_DelnovelY628Tfs*30.23
UCECchr1731330350Silentrs373685150I1888I0.24
UCECchr1731229094Missense_MutationnovelD827Y0.35
UCECchr1731252778Intronnovel0.5
UCECchr1731265251Nonsense_MutationNAE1583*0.25
UCECchr1731350261Nonsense_MutationnovelS2467*0.31
UCECchr1731357314Missense_MutationnovelL2639I0.53
UCECchr1731367228Intronnovel0.29
UCECchr17313772283'UTRnovel0.68
UCECchr17313775633'UTRnovel0.43
UCECchr1731227608Splice_SitenovelX803_splice0.33
UCECchr1731325909Missense_MutationnovelV1642A0.36
UCECchr1731334958Missense_MutationNAL1978P0.2
UCECchr1731159032Frame_Shift_DelNAN78Ifs*70.45
UCECchr1731225225Missense_Mutationrs151138158R659Q0.18
UCECchr1731229670Intronnovel0.4
UCECchr17313775453'UTRnovel0.2
UCECchr17313746533'UTRnovel0.49
UCECchr1731221931Splice_SitenovelX574_splice0.42
UCECchr1731225134Missense_Mutationrs199474738G629R0.58
UCECchr17313742333'UTRnovel0.43
UCECchr17313746533'UTRnovel0.44
UCECchr1731258500Missense_Mutationrs137854550K1444E0.22
UCECchr1731159032Frame_Shift_DelNAN78Ifs*70.28
UCECchr1731327595Missense_MutationNAE1789K0.45
UCECchr1731219048Missense_MutationnovelE524G0.32
UCECchr1731249093Nonsense_Mutationrs137854560R1362*0.34
UCECchr1731330397Missense_MutationnovelN1904S0.3
UCECchr1731337419Missense_MutationnovelK2160T0.26
UCECchr17313743533'UTRnovel0.24
UCECchr1731163188Splice_RegionnovelQ97Q0.23
UCECchr1731227259Missense_MutationNAR765C0.59
UCECchr1731229527Intronnovel0.36
UCECchr1731232763Missense_MutationnovelQ1126H0.39
UCECchr1731250074Intronnovel0.32
UCECchr1731343037Missense_MutationnovelR2364Q0.36
UCECchr17313754733'UTRnovel0.41
UCECchr17313773533'UTRnovel0.38
UCECchr1731227260Missense_MutationNAR765L0.38
UCECchr1731325835Missense_MutationNAQ1617H0.4
UCECchr1731226460Frame_Shift_Delrs747195556P678Rfs*100.42
UCECchr1731227235Frame_Shift_DelnovelR758Sfs*90.39
UCECchr1731181763SilentnovelQ236Q0.33
UCECchr1731206372Splice_Siters267604791X464_splice0.4
UCECchr1731221896Missense_MutationnovelP563H0.3
UCECchr1731229304Missense_Mutationrs775949348R897W0.25
UCECchr1731325844SilentnovelG1620G0.39
UCECchr1731337430SilentnovelL2164L0.42
UCECchr17313752393'UTRnovel0.61
UCECchr17313773703'UTRnovel0.47
UCECchr1731156080Nonsense_MutationNAL53*0.42
UCECchr1731235728Nonsense_Mutationrs199474742R1276*0.46
UCECchr1731206297Nonsense_Mutationrs778405030R440*0.38
UCECchr1731219012Missense_MutationnovelR512I0.14
UCECchr1731350209Nonsense_Mutationrs786202457R2450*0.52
UCECchr1731337411SilentNAS2157S0.43
UCECchr1731235964Missense_MutationNAR1306Q0.07
UCECchr1731260463Missense_MutationNAR1509C0.26
UCECchr1731265251Nonsense_MutationNAE1583*0.3
UCECchr1731214466Nonsense_MutationNAE470*0.09
UCECchr17313772413'UTRnovel0.35
UCECchr17313747383'UTRnovel0.53
UCECchr1731219044Missense_MutationNAA523S0.17
UCECchr1731249973Intronnovel0.13
UCECchr1731258377Missense_Mutationrs138227618G1403S0.34
UCECchr1731265259Missense_MutationnovelK1585N0.07
UCECchr1731338062Missense_MutationnovelA2248S0.25
UCECchr17313746983'UTRnovel0.5
UCECchr17313757173'UTRnovel0.09
UCECchr1731360702Splice_RegionnovelP2792P0.38
UCECchr1731261751Missense_MutationnovelA1540T0.06
UCECchr1731265270Missense_Mutationrs185660700T1589M0.26
UCECchr1731327839Missense_Mutationrs786202112R1870Q0.33
UCECchr1731349235Silentrs369754180S2435S0.34
UCECchr1731232103SilentNAV1076V0.36
UCECchr1731260498SilentNAQ1520Q0.41
UCECchr1731261772Missense_MutationnovelG1547C0.06
UCECchr1731233145Missense_MutationnovelM1214V0.22
UCECchr1731226650Missense_MutationnovelM739I0.36
UCECchr17313742333'UTRnovel0.36
UCECchr1731223523Missense_Mutationrs587782592R601W0.14
UCECchr17313755913'UTRnovel0.28
UCECchr1731249031Missense_MutationNAQ1341P0.07
UCECchr1731221931Splice_SitenovelX574_splice0.09
UCECchr1731330527Intronnovel0.17
UCECchr1731265318Missense_MutationnovelI1605T0.28
UCECchr17313756333'UTRnovel0.38
UCECchr1731225109Missense_MutationNAS620R0.41
UCECchr1731229594Intronnovel0.17
UCECchr1731232710SilentNAL1109L0.33
UCECchr1731233079Nonsense_MutationNAE1192*0.38
UCECchr1731350249Missense_MutationNAL2463R0.42
UCECchr17313746533'UTRnovel0.5
UCECchr17313750303'UTRnovel0.6
UCECchr1731334897Missense_MutationNAR1958C0.28
UCECchr1731181459Silentrs370184932A208A0.16
UCECchr1731229587Intronnovel0.48
UCECchr1731230308SilentNAT1013T0.36
UCECchr1731325982SilentNAF1666F0.18
UCECchr1731326202In_Frame_InsnovelF1740delinsYQQI0.13
UCECchr1731356472Frame_Shift_InsnovelD2545*0.3
UCECchr1731169943Nonsense_MutationNAE178*0.31
UCECchr1731250179Intronnovel0.38
UCECchr1731326161Missense_MutationNAL1726R0.29
UCECchr1731169954SilentnovelQ181Q0.19
UCECchr1731200492Missense_MutationnovelA320D0.44
UCECchr1731229118Nonsense_MutationnovelQ835*0.18
UCECchr1731326004Missense_MutationnovelV1674I0.27
UCECchr1731326189Missense_MutationnovelE1735D0.18
UCECchr1731327650Missense_MutationnovelG1807D0.21
UCECchr1731327739Missense_Mutationrs771597781D1837N0.26
UCECchr1731330305SilentnovelA1873A0.44
UCECchr1731330652Intronnovel0.19
UCECchr1731349235Silentrs369754180S2435S0.22
UCECchr1731352369Missense_MutationnovelL2524M0.22
UCECchr1731356540Missense_MutationnovelP2566S0.33
UCECchr1731360529Missense_MutationNAL2735I0.2
UCECchr1731230303Missense_MutationnovelK1012Q0.3
UCECchr1731259074Nonsense_MutationNAE1459*0.55
UCECchr1731350209Nonsense_Mutationrs786202457R2450*0.29
UCECchr1731350296Missense_MutationnovelH2479N0.44
UCECchr17313746533'UTRnovel0.56
UCECchr1731206360Nonsense_MutationNAR461*0.3
UCECchr1731214494Frame_Shift_DelnovelK480Nfs*180.3
UCECchr1731229672Intronnovel0.36
UCECchr1731336703SilentNAH2072H0.25
UCECchr1731343025Missense_MutationNAF2360C0.33
UCECchr1731229956Missense_MutationNAM991K0.33
UCECchr1731327597SilentNAE1789E0.39
UCECchr1731330462Frame_Shift_DelnovelL1927Wfs*150.27
UCECchr1731182612Nonsense_MutationnovelE279*0.36
UCECchr1731249093Nonsense_Mutationrs137854560R1362*0.35
UCECchr1731334897Missense_MutationNAR1958C0.48
UCECchr1731349239Missense_MutationnovelA2437T0.35
UCECchr17313756253'UTRnovel0.35
UCECchr17313758313'UTRnovel0.46
UCECchr1731156003SilentNAQ27Q0.43
UCECchr1731200485Missense_MutationnovelE318K0.36
UCECchr1731260441Silentrs577394398D1501D0.32
UCECchr1731336668Missense_MutationnovelT2061A0.07
UCECchr17313752583'UTRnovel0.41
UCSchr1731201423Nonsense_MutationNAQ400*0.78
UCSchr1731374030Missense_Mutationrs377393842V2799I0.1
UCSchr1731357031Missense_MutationnovelL2604I0.33
UCSchr1731360548Missense_MutationnovelT2741R0.1

Copy Number Variations (CNVs)
CancerTypeFreq Q-value
DLBCDEL00.18166
GBMDEL0.11616.0683e-06
LAMLDEL0.06280.0003238
LUSCDEL0.18560.00099377
OVDEL0.80144.6744e-18
SARCDEL0.25291.7643e-10
THCADEL0.0020.221
UCECDEL0.18377.1897e-08
UCSDEL0.35710.19877
UVMDEL0.03750.22482

Survival Analysis
CancerP-value Q-value
KIRC0.00067

Kaplan-Meier Survival Analysis

MESO0.031

Kaplan-Meier Survival Analysis

SKCM0.0016

Kaplan-Meier Survival Analysis

LAML0.00027

Kaplan-Meier Survival Analysis

UCEC0.037

Kaplan-Meier Survival Analysis

LGG0.0011

Kaplan-Meier Survival Analysis

UVM0.0065

Kaplan-Meier Survival Analysis

OV0.045

Kaplan-Meier Survival Analysis

Drugs

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Eesembl ID



Cell lines and drugs in GSE70138 or GSE92742

  • Description
  • RBPome
  • Literatures
  • Expression
  • Transcripts
  • Gene Model
  • Pathways
  • Phenotypes
  • GWAS
  • PPI
  • Gene Ontology
Description
Ensembl ID
ENSG00000196712 (Gene tree)
Gene ID
4763
Gene Symbol
NF1
Alias
N
Full Name
neurofibromin 1
Gene Type
protein_coding
Species
Homo_sapiens
Status
confidence
Strand
Plus strand
Length
374,244 bases
Position
chr17:31,007,873-31,382,116
Accession
7765
RBP type
non-canonical RBP
Summary
This gene product appears to function as a negative regulator of the ras signal transduction pathway. Mutations in this gene have been linked to neurofibromatosis type 1, juvenile myelomonocytic leukemia and Watson syndrome. The mRNA for this gene is subject to RNA editing (CGA>UGA->Arg1306Term) resulting in premature translation termination. Alternatively spliced transcript variants encoding different isoforms have also been described for this gene. [provided by RefSeq, Jul 2008]
RNA binding proteome (RBPome)
PIDTitleMethod TimeAuthorDoi
30607034Comprehensive identification of RNA protein interactions in any organism using orthogonal organic phase separation (OOPS)OOPS & HEK2932019 Jan 3Queiroz RMLDOI: 10.1038/s41587-018-0001-2
30528433The Human RNA-Binding Proteome and Its Dynamics during Translational ArrestXRNAX & HEK2932018 Dec 6Trendel JDOI: 10.1016/j.cell.2018.11.004
30607034Comprehensive identification of RNA protein interactions in any organism using orthogonal organic phase separation (OOPS)OOPS & U2OS2019 Jan 3Queiroz RMLDOI: 10.1038/s41587-018-0001-2

Literatures on RNA binding capacity
PIDTitleArticle TimeAuthorDoi
29066822Dysregulated gene expressions of MEX3D, FOS and BCL2 in human induced-neuronal (iN) cells from NF1 patients: a pilot study.Sci Rep2017 Oct 24Sagata Ndoi: 10.1038/s41598-017-14440-7.
21111075Long-range DNA interactions are specifically altered by locked nucleic acid-targeting of a CTCF binding site.Biochim Biophys Acta2011 JanLing JQdoi: 10.1016/j.bbagrm.2010.11.004
10673359Tumor antigen HuR binds specifically to one of five protein-binding segments in the 3'-untranslated region of the neurofibromin messenger RNA.Biochem Biophys Res Commun2000 Jan 27Haeussler J-
Expression
Transcripts
Transcript IDNameLengthRefSeq ID Protein IDLengthRefSeq IDUniportKB ID
ENST00000577967NF1-2185799--- (aa)--
ENST00000584328NF1-223566--- (aa)--
ENST00000493220NF1-2155691--- (aa)--
ENST00000358273NF1-20212425-ENSP000003510152839 (aa)-P21359
ENST00000431387NF1-2042889-ENSP00000412921593 (aa)-P21359
ENST00000495910NF1-2168223-ENSP00000463682124 (aa)-J3QLS2
ENST00000479614NF1-2101114-ENSP00000462157206 (aa)-J3KRT8
ENST00000456735NF1-2057787-ENSP000003899072502 (aa)-H0Y465
ENST00000498569NF1-217620--- (aa)--
ENST00000579081NF1-2198788-ENSP000004624081656 (aa)-J3KSB5
ENST00000479536NF1-209811-ENSP0000046708081 (aa)-K7ENT2
ENST00000489712NF1-213543--- (aa)--
ENST00000581113NF1-2201464-ENSP00000492721237 (aa)-A0A1W2PS74
ENST00000487476NF1-2112265-ENSP00000491589551 (aa)-P21359
ENST00000490416NF1-2141329-ENSP00000491431233 (aa)-A0A1W2PPA7
ENST00000581790NF1-2211256-ENSP00000462700206 (aa)-J3KSX8
ENST00000356175NF1-20112362-ENSP000003484982818 (aa)-P21359
ENST00000468273NF1-207592-ENSP00000464702115 (aa)-K7EID4
ENST00000471572NF1-2082028-ENSP00000464678640 (aa)-J3QSG6
ENST00000466819NF1-2061177-ENSP00000463819227 (aa)-J3QQN8
ENST00000582892NF1-222462--- (aa)--
ENST00000422121NF1-203619-ENSP0000046513813 (aa)-K7EJE7
ENST00000488981NF1-212331--- (aa)--
Gene Model
Click here to download ENSG00000196712's gene model file
Pathways
Pathway IDPathway NameSource
hsa01521EGFR tyrosine kinase inhibitor resistanceKEGG
hsa04010MAPK signaling pathwayKEGG
hsa04014Ras signaling pathwayKEGG
Phenotypes
ensgIDTraitpValuePubmed ID
ENSG00000196712Blood Pressure6.7960000E-005-
ENSG00000196712Child Development Disorders, Pervasive4.1000000E-005-
ENSG00000196712Child Development Disorders, Pervasive1.5000000E-005-
ENSG00000196712Hip2E-825673412
GWAS
ensgIDSNPChromosomePositionSNP-risk TraitPubmedID95% CIOr or BEAT EFO ID
ENSG00000196712rs30875911731303952AHip circumference25673412[0.014-0.029] unit decrease0.0212EFO_0005093
ENSG00000196712rs178844661731219747AFeeling nervous29500382z score decrease5.56EFO_0009597
ENSG00000196712rs1884606611731366922AFamilial squamous cell lung carcinoma29924316[2.50-8.59]4.63EFO_0000708|EFO_0006953
ENSG00000196712rs1481761741731219525TFamilial squamous cell lung carcinoma29924316[2.48-8.52]4.6EFO_0000708|EFO_0006953
ENSG00000196712rs11295061731319014GEndometrial cancer30093612[1.06-1.13]1.1EFO_1001512
ENSG00000196712rs11295061731319014GEndometrial cancer (endometrioid histology)30093612[1.07-1.15]1.11EFO_1001512
ENSG00000196712rs1507001791731282303GDiverticular disease30177863[NR] unit increase0.374EFO_1001460
ENSG00000196712rs28543221731372398T Low density lipoprotein cholesterol levels29507422unit increase0.017EFO_0004611
ENSG00000196712rs28543221731372398T Total cholesterol levels29507422unit increase0.02EFO_0004574
ENSG00000196712rs29058041731192977TAdventurousness30643258[0.015-0.023] unit decrease0.019181518EFO_0008579
ENSG00000196712rs28543221731372398?Lipid traits (pleiotropy) (HIPO component 2)30289880EFO_0004574|EFO_0004530|EFO_0004611|EFO_0004612
ENSG00000196712rs25255651731339570CAlcohol consumption (drinks per week) (MTAG)30643251[0.0062-0.0115] unit increase0.00885905EFO_0007878
ENSG00000196712rs728156241731289498TGeneral risk tolerance (MTAG)30643258[0.012-0.019] unit decrease0.0158EFO_0008579
ENSG00000196712rs29530131731169325COsteoarthritis of the hip or knee30664745[1.04-1.07]1.05EFO_1000786|EFO_0004616
Protein-Protein Interaction (PPI)

Clik here to download ENSG00000196712's network

* RBP PPI network refers to all genes directly bind to RBP
Gene Ontology
Go IDGo_termPubmedIDEvidenceCategory
GO:0000165MAPK cascade-ISSProcess
GO:0000165MAPK cascade-TASProcess
GO:0001649osteoblast differentiation-ISSProcess
GO:0001656metanephros development-ISSProcess
GO:0001666response to hypoxia-ISSProcess
GO:0001889liver development-ISSProcess
GO:0001937negative regulation of endothelial cell proliferation16648142.17404841.IMPProcess
GO:0001938positive regulation of endothelial cell proliferation-IEAProcess
GO:0001952regulation of cell-matrix adhesion-ISSProcess
GO:0001953negative regulation of cell-matrix adhesion-IEAProcess
GO:0005096GTPase activator activity1568247.1570015.2121371.IDAFunction
GO:0005515protein binding11356864.16374483.23027611.IPIFunction
GO:0005634nucleus1550670.ISSComponent
GO:0005730nucleolus-IEAComponent
GO:0005737cytoplasm1550670.ISSComponent
GO:0005829cytosol-TASComponent
GO:0006469negative regulation of protein kinase activity-ISSProcess
GO:0007154cell communication-ISSProcess
GO:0007265Ras protein signal transduction-ISSProcess
GO:0007406negative regulation of neuroblast proliferation-ISSProcess
GO:0007420brain development-ISSProcess
GO:0007422peripheral nervous system development-ISSProcess
GO:0007507heart development-ISSProcess
GO:0007519skeletal muscle tissue development-IEAProcess
GO:0008429phosphatidylethanolamine binding17187824.IDAFunction
GO:0008542visual learning-ISSProcess
GO:0008625extrinsic apoptotic signaling pathway via death domain receptors-IEAProcess
GO:0010468regulation of gene expression-IEAProcess
GO:0014044Schwann cell development-ISSProcess
GO:0014065phosphatidylinositol 3-kinase signaling-ISSProcess
GO:0016020membrane19946888.HDAComponent
GO:0016525negative regulation of angiogenesis-IEAProcess
GO:0021510spinal cord development-ISSProcess
GO:0021764amygdala development-IEAProcess
GO:0021897forebrain astrocyte development-ISSProcess
GO:0021915neural tube development-IEAProcess
GO:0021987cerebral cortex development-ISSProcess
GO:0022011myelination in peripheral nervous system-ISSProcess
GO:0030036actin cytoskeleton organization-ISSProcess
GO:0030198extracellular matrix organization-ISSProcess
GO:0030199collagen fibril organization-ISSProcess
GO:0030325adrenal gland development-ISSProcess
GO:0030336negative regulation of cell migration16648142.IMPProcess
GO:0030424axon1550670.IDAComponent
GO:0030425dendrite1550670.IDAComponent
GO:0031210phosphatidylcholine binding17187824.IDAFunction
GO:0032228regulation of synaptic transmission, GABAergic-IEAProcess
GO:0034605cellular response to heat-IEAProcess
GO:0035021negative regulation of Rac protein signal transduction-IEAProcess
GO:0042060wound healing-ISSProcess
GO:0042308negative regulation of protein import into nucleus-IEAProcess
GO:0043065positive regulation of apoptotic process-ISSProcess
GO:0043087regulation of GTPase activity1570015.IMPProcess
GO:0043407negative regulation of MAP kinase activity-ISSProcess
GO:0043409negative regulation of MAPK cascade16648142.IMPProcess
GO:0043409negative regulation of MAPK cascade-ISSProcess
GO:0043473pigmentation-ISSProcess
GO:0043525positive regulation of neuron apoptotic process-ISSProcess
GO:0043535regulation of blood vessel endothelial cell migration17404841.IMPProcess
GO:0043547positive regulation of GTPase activity2121371.IDAProcess
GO:0043547positive regulation of GTPase activity16648142.IMPProcess
GO:0043547positive regulation of GTPase activity-ISSProcess
GO:0045124regulation of bone resorption-ISSProcess
GO:0045671negative regulation of osteoclast differentiation-IEAProcess
GO:0045685regulation of glial cell differentiation-ISSProcess
GO:0045762positive regulation of adenylate cyclase activity-ISSProcess
GO:0045765regulation of angiogenesis17404841.IMPProcess
GO:0046929negative regulation of neurotransmitter secretion-IEAProcess
GO:0048147negative regulation of fibroblast proliferation-ISSProcess
GO:0048169regulation of long-term neuronal synaptic plasticity-IEAProcess
GO:0048485sympathetic nervous system development-ISSProcess
GO:0048593camera-type eye morphogenesis-ISSProcess
GO:0048712negative regulation of astrocyte differentiation-IEAProcess
GO:0048715negative regulation of oligodendrocyte differentiation-ISSProcess
GO:0048745smooth muscle tissue development-ISSProcess
GO:0048820hair follicle maturation-IEAProcess
GO:0048844artery morphogenesis-ISSProcess
GO:0048853forebrain morphogenesis-ISSProcess
GO:0050890cognition17299016.IMPProcess
GO:0061534gamma-aminobutyric acid secretion, neurotransmission-IEAProcess
GO:0061535glutamate secretion, neurotransmission-IEAProcess
GO:0098597observational learning-IEAProcess
GO:0098793presynapse-IEAComponent
GO:1900271regulation of long-term synaptic potentiation-IEAProcess
GO:1902043positive regulation of extrinsic apoptotic signaling pathway via death domain receptors-IEAProcess
GO:2001241positive regulation of extrinsic apoptotic signaling pathway in absence of ligand-IEAProcess
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