EuRBPDB

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  • Description
  • RBPome
  • Literatures
  • Expression
  • Transcripts
  • Gene Model
  • Pathways
  • Phenotypes
  • GWAS
  • PPI
  • Gene Ontology
Description
Ensembl ID
ENSG00000149311 (Gene tree)
Gene ID
472
Gene Symbol
ATM
Alias
TEL1|TELO1|ATA|ATDC|ATC|ATD
Full Name
ATM serine/threonine kinase
Gene Type
protein_coding
Species
Homo_sapiens
Status
confidence
Strand
Plus strand
Length
146,619 bases
Position
chr11:108,222,484-108,369,102
Accession
795
RBP type
non-canonical RBP
Summary
The protein encoded by this gene belongs to the PI3/PI4-kinase family. This protein is an important cell cycle checkpoint kinase that phosphorylates; thus, it functions as a regulator of a wide variety of downstream proteins, including tumor suppressor proteins p53 and BRCA1, checkpoint kinase CHK2, checkpoint proteins RAD17 and RAD9, and DNA repair protein NBS1. This protein and the closely related kinase ATR are thought to be master controllers of cell cycle checkpoint signaling pathways that are required for cell response to DNA damage and for genome stability. Mutations in this gene are associated with ataxia telangiectasia, an autosomal recessive disorder. [provided by RefSeq, Aug 2010]
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
29431736Capturing the interactome of newly transcribed RNAPolyT-RICK & Hela2018 Feb 12Bao XDOI: 10.1038/nmeth.4595
29431736Capturing the interactome of newly transcribed RNARICK & Hela2018 Feb 12Bao XDOI: 10.1038/nmeth.4595
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
21209379ATM regulates a DNA damage response posttranscriptional RNA operon in lymphocytes.Blood2011 Feb 24Mazan-Mamczarz Kdoi: 10.1182/blood-2010-09-310987
24895251Molecular mechanisms and anti-cancer aspects of the medicinal phytochemicals rocaglamides (=flavaglines).Int J Cancer2015 Oct 15Li-Weber Mdoi: 10.1002/ijc.29013
22170036The function of the RNA-binding protein TEL1 in moss reveals ancient regulatory mechanisms of shoot development.Plant Mol Biol2012 MarVivancos Jdoi: 10.1007/s11103-011-9867-9
30854058Identification of B-cell translocation gene 1-controlled gene networks in diffuse large B-cell lymphoma: A study based on bioinformatics analysis.Oncol Lett2019 MarYan Wdoi: 10.3892/ol.2019.9900
23941244Differential gene expression profiles of PPP2R5C-siRNA-treated malignant T cells.DNA Cell Biol2013 OctChen Ydoi: 10.1089/dna.2013.2138
Expression
Transcripts
Transcript IDNameLengthRefSeq ID Protein IDLengthRefSeq IDUniportKB ID
ENST00000419286ATM-202302--- (aa)--
ENST00000525178ATM-207880--- (aa)--
ENST00000533979ATM-223705--- (aa)--
ENST00000278616ATM-20113147XM_005271562ENSP000002786163056 (aa)XP_005271619Q13315
ENST00000533733ATM-2221731--- (aa)--
ENST00000601453ATM-225582-ENSP00000469471135 (aa)-M0QXY8
ENST00000530958ATM-2155718-ENSP00000483338168 (aa)-A0A087X0E9
ENST00000533690ATM-2213354--- (aa)--
ENST00000525012ATM-205258--- (aa)--
ENST00000525056ATM-206657--- (aa)--
ENST00000524792ATM-2045912--- (aa)--
ENST00000639240ATM-228498-ENSP00000491585112 (aa)-Q6P7P1
ENST00000531525ATM-2161513-ENSP00000434327155 (aa)-H0YDU7
ENST00000527891ATM-213595-ENSP00000433955154 (aa)-E9PIQ5
ENST00000527181ATM-210740--- (aa)--
ENST00000532931ATM-219481-ENSP0000043231893 (aa)-E9PRG7
ENST00000532765ATM-218610--- (aa)--
ENST00000527389ATM-211401--- (aa)--
ENST00000529588ATM-214502-ENSP0000043552477 (aa)-H0YEC6
ENST00000639953ATM-229587-ENSP00000492487112 (aa)-Q6P7P1
ENST00000638786ATM-2271140--- (aa)--
ENST00000452508ATM-20312954XM_011542840ENSP000003880583056 (aa)XP_011541142Q13315
ENST00000640388ATM-230578-ENSP00000492354112 (aa)-Q6P7P1
ENST00000531957ATM-217537--- (aa)--
ENST00000525537ATM-208583--- (aa)--
ENST00000533526ATM-220234--- (aa)--
ENST00000534625ATM-224725--- (aa)--
ENST00000526567ATM-209560-ENSP00000480205112 (aa)-Q6P7P1
ENST00000638443ATM-2262146-ENSP00000491957112 (aa)-Q6P7P1
ENST00000527805ATM-2124841XM_017017792ENSP000004357471369 (aa)XP_016873281E9PIN0
Gene Model
Click here to download ENSG00000149311's gene model file
Pathways
Pathway IDPathway NameSource
hsa01524Platinum drug resistanceKEGG
hsa03440Homologous recombinationKEGG
hsa04064NF-kappa B signaling pathwayKEGG
hsa04068FoxO signaling pathwayKEGG
hsa04110Cell cycleKEGG
hsa04115p53 signaling pathwayKEGG
hsa04210ApoptosisKEGG
hsa04218Cellular senescenceKEGG
hsa05165Human papillomavirus infectionKEGG
hsa05166Human T-cell leukemia virus 1 infectionKEGG
hsa05170Human immunodeficiency virus 1 infectionKEGG
hsa05202Transcriptional misregulation in cancerKEGG
hsa05206MicroRNAs in cancerKEGG
Phenotypes
ensgIDTraitpValuePubmed ID
ENSG00000149311Melanoma3E-921983787
ENSG00000149311Melanoma3E-928212542
GWAS
ensgIDSNPChromosomePositionSNP-risk TraitPubmedID95% CIOr or BEAT EFO ID
ENSG00000149311rs5600988911108326169?Alzheimer's disease (late onset)28714976[1.96-4.76]3.0578122EFO_1001870
ENSG00000149311rs59415311108260919?Red blood cell count29403010[0.021-0.038] unit increase novel0.02958EFO_0004305
ENSG00000149311rs180151611108304735?Melanoma28212542[NR]1.1363636EFO_0000756
ENSG00000149311rs180151611108304735?Melanoma21983787[1.12-1.27]1.19EFO_0000756
ENSG00000149311rs58229711108294680GSum eosinophil basophil counts27863252[0.02-0.034] unit increase0.02713982EFO_0005090|EFO_0004842
ENSG00000149311rs58229711108294680GEosinophil percentage of white cells27863252[0.014-0.028] unit increase0.02094241EFO_0007991
ENSG00000149311rs58229711108294680GEosinophil counts27863252[0.019-0.033] unit increase0.02639203EFO_0004842
ENSG00000149311rs14137900911108278480GUterine fibroids30194396[1.2-1.38]1.29EFO_0000731
ENSG00000149311rs180005711108272729GUterine fibroids30194396[1.19-1.38]1.28EFO_0000731
ENSG00000149311rs180151611108304735GUterine fibroids30194396[1.06-1.14]1.098901EFO_0000731
ENSG00000149311rs7300822911108316962?Nevus count or cutaneous melanoma30429480EFO_0004632|EFO_0000389
ENSG00000149311rs63706411108270182?Eosinophil counts30595370EFO_0004842
ENSG00000149311rs180005711108272729GProstate cancer29892016[1.10-1.22]1.16EFO_0001663
Protein-Protein Interaction (PPI)

Clik here to download ENSG00000149311's network

* RBP PPI network refers to all genes directly bind to RBP
Gene Ontology
Go IDGo_termPubmedIDEvidenceCategory
GO:0000077DNA damage checkpoint21873635.IBAProcess
GO:0000723telomere maintenance21873635.IBAProcess
GO:0000729DNA double-strand break processing-TASProcess
GO:0000781chromosome, telomeric region15149599.IDAComponent
GO:0000784nuclear chromosome, telomeric region26586433.ICComponent
GO:0001666response to hypoxia-IEAProcess
GO:0002331pre-B cell allelic exclusion-ISSProcess
GO:0003677DNA binding-IEAFunction
GO:0004674protein serine/threonine kinase activity21873635.IBAFunction
GO:0004674protein serine/threonine kinase activity9733515.11375976.20096447.26323318.IDAFunction
GO:0004674protein serine/threonine kinase activity-TASFunction
GO:0004677DNA-dependent protein kinase activity15790808.IDAFunction
GO:0005515protein binding9168117.11375976.12607005.15314656.16452482.17157788.17525732.18160036.18449195.18583959.18667510.18710941.19015526.19412162.20801936.20810650.20864032.22621922.22977523.25640309.25895060.29656893.IPIFunction
GO:0005524ATP binding-IEAFunction
GO:0005634nucleus21873635.IBAComponent
GO:0005634nucleus26323318.IDAComponent
GO:0005654nucleoplasm-TASComponent
GO:0005730nucleolus27829214.IDAComponent
GO:0006260DNA replication-TASProcess
GO:0006303double-strand break repair via nonhomologous end joining-TASProcess
GO:0006468protein phosphorylation15916964.IDAProcess
GO:0006468protein phosphorylation17694070.IMPProcess
GO:0006974cellular response to DNA damage stimulus21873635.IBAProcess
GO:0006974cellular response to DNA damage stimulus16213212.IDAProcess
GO:0006974cellular response to DNA damage stimulus15790808.17875758.24550317.IMPProcess
GO:0006975DNA damage induced protein phosphorylation9733515.IDAProcess
GO:0006975DNA damage induced protein phosphorylation27664052.IMPProcess
GO:0006977DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest-TASProcess
GO:0007050cell cycle arrest15149599.IMPProcess
GO:0007094mitotic spindle assembly checkpoint11943150.IMPProcess
GO:0007131reciprocal meiotic recombination7792600.TASProcess
GO:0007165signal transduction7792600.TASProcess
GO:0008630intrinsic apoptotic signaling pathway in response to DNA damage21873635.IBAProcess
GO:0010212response to ionizing radiation9733515.11375976.IDAProcess
GO:0010506regulation of autophagy23878245.IMPProcess
GO:0010628positive regulation of gene expression28344092.IMPProcess
GO:00163031-phosphatidylinositol-3-kinase activity11375976.IMPFunction
GO:0016572histone phosphorylation-IEAProcess
GO:0018105peptidyl-serine phosphorylation9733515.26323318.IDAProcess
GO:0030335positive regulation of cell migration28344092.IMPProcess
GO:0030889negative regulation of B cell proliferation17875758.IMPProcess
GO:0031410cytoplasmic vesicle-IEAComponent
GO:0032210regulation of telomere maintenance via telomerase26586433.IGIProcess
GO:0032212positive regulation of telomere maintenance via telomerase-ISSProcess
GO:0033129positive regulation of histone phosphorylation-IEAProcess
GO:0036092phosphatidylinositol-3-phosphate biosynthetic process-IEAProcess
GO:0036289peptidyl-serine autophosphorylation24550317.IMPProcess
GO:0042981regulation of apoptotic process-TASProcess
GO:0043065positive regulation of apoptotic process17875758.IMPProcess
GO:0043517positive regulation of DNA damage response, signal transduction by p53 class mediator9733515.IMPProcess
GO:0043525positive regulation of neuron apoptotic process-IEAProcess
GO:0044877protein-containing complex binding15790808.IDAFunction
GO:0045785positive regulation of cell adhesion-ISSProcess
GO:0045944positive regulation of transcription by RNA polymerase II-ISSProcess
GO:0046777protein autophosphorylation9733515.15790808.IDAProcess
GO:0046777protein autophosphorylation27664052.IMPProcess
GO:0046983protein dimerization activity15790808.IDAFunction
GO:0047485protein N-terminus binding11375976.IDAFunction
GO:0051972regulation of telomerase activity26586427.IMPProcess
GO:0071044histone mRNA catabolic process16086026.IDAProcess
GO:0071300cellular response to retinoic acid-ISSProcess
GO:0071480cellular response to gamma radiation9925639.16213212.IDAProcess
GO:0071481cellular response to X-ray26323318.IDAProcess
GO:0071500cellular response to nitrosative stress23878245.IDAProcess
GO:0072434signal transduction involved in mitotic G2 DNA damage checkpoint15149599.IMPProcess
GO:0090399replicative senescence15149599.IMPProcess
GO:0097694establishment of RNA localization to telomere26586433.IMPProcess
GO:0097695establishment of protein-containing complex localization to telomere26586433.ICProcess
GO:1900034regulation of cellular response to heat-TASProcess
GO:1901796regulation of signal transduction by p53 class mediator-TASProcess
GO:1903626positive regulation of DNA catabolic process-IEAProcess
GO:1903978regulation of microglial cell activation-IEAProcess
GO:1904262negative regulation of TORC1 signaling21873635.IBAProcess
GO:1904262negative regulation of TORC1 signaling23878245.IMPProcess
GO:1904354negative regulation of telomere capping17694070.IMPProcess
GO:1904358positive regulation of telomere maintenance via telomere lengthening17694070.26586427.IMPProcess
GO:1904884positive regulation of telomerase catalytic core complex assembly26586433.IMPProcess
GO:1905843regulation of cellular response to gamma radiation-IEAProcess
GO:1990391DNA repair complex24217620.IDAComponent

Cancer associated literatures
PIDTitleArticle TimeAuthorDoi
16474133Inhibition of the ATM/p53 signal transduction pathway by Kaposi's sarcoma-associated herpesvirus interferon regulatory factor 1.J Virol2006 MarShin YC-
17393301The spectrum of ATM missense variants and their contribution to contralateral breast cancer.Breast Cancer Res Treat2008 JanBroeks A-
25935535Low ATM protein expression in malignant tumor as well as cancer-associated stroma are independent prognostic factors in a retrospective study of early-stage hormone-negative breast cancer.Breast Cancer Res2015 May 3Feng Xdoi: 10.1186/s13058-015-0575-2.
21102523Transforming growth factor-β regulates the sphere-initiating stem cell-like feature in breast cancer through miRNA-181 and ATM.Oncogene2011 Mar 24Wang Ydoi: 10.1038/onc.2010.531
19029835PKCalpha activation downregulates ATM and radio-sensitizes androgen-sensitive human prostate cancer cells in vitro and in vivo.Cancer Biol Ther2009 JanTruman JP-
16997395ATM activation is accompanied with earlier stages of prostate tumorigenesis.Biochim Biophys Acta2006 OctFan C-
27535224The Breast Cancer Tumor Suppressor TRIM29 Is Expressed via ATM-dependent Signaling in Response to Hypoxia.J Biol Chem2016 Oct 7D??kel M-
2761351853BP1 depletion causes PARP inhibitor resistance in ATM-deficient breast cancer cells.BMC Cancer2016 Sep 9Hong Rdoi: 10.1186/s12885-016-2754-7.
27556690Ataxia-telangiectasia mutated activation mediates tumor necrosis factor-alpha induced MMP-13 up-regulation and metastasis in lung cancer cells.Oncotarget2016 Sep 20Yan HQdoi: 10.18632/oncotarget.11386.
24324828Mutation at intronic repeats of the ataxia-telangiectasia mutated (ATM) gene and ATM protein loss in primary gastric cancer with microsatellite instability.PLoS One2013 Dec 6Kim HSdoi: 10.1371/journal.pone.0082769
16329039ATM gene expression is associated with differentiation and angiogenesis in infiltrating breast carcinomas.Histol Histopathol2006 FebCuatrecasas Mdoi: 10.14670/HH-21.149.
21156285Loss of ATM/Chk2/p53 pathway components accelerates tumor development and contributes to radiation resistance in gliomas.Cancer Cell2010 Dec 14Squatrito Mdoi: 10.1016/j.ccr.2010.10.034.
12032824Aberrant methylation of the ATM promoter correlates with increased radiosensitivity in a human colorectal tumor cell line.Oncogene2002 May 30Kim WJ-
22923499Activation of the ATM-Snail pathway promotes breast cancer metastasis.J Mol Cell Biol2012 OctSun Mdoi: 10.1093/jmcb/mjs048
24726882Induction of ATM/ATR pathway combined with Vγ2V??2 T cells enhances cytotoxicity of ovarian cancer cells.Biochim Biophys Acta2014 JulLu Jdoi: 10.1016/j.bbadis.2014.04.003
20023412DNA damage signaling is activated during cancer progression in human colorectal carcinoma.Cancer Biol Ther2010 FebOka K-
26300260MacroH2A1 and ATM Play Opposing Roles in Paracrine Senescence and the Senescence-Associated Secretory Phenotype.Mol Cell2015 Sep 3Chen Hdoi: 10.1016/j.molcel.2015.07.011
22094875ATM-mediated DNA damage signals mediate immune escape through integrin-αvβ3-dependent mechanisms.Cancer Res2012 Jan 1Jinushi Mdoi: 10.1158/0008-5472.CAN-11-2028
26053094Ataxia-telangiectasia mutated (ATM) silencing promotes neuroblastoma progression through a MYCN independent mechanism.Oncotarget2015 Jul 30Mandriota SJ-
11830610Dominant negative ATM mutations in breast cancer families.J Natl Cancer Inst2002 Feb 6Chenevix-Trench G-
26220524Loss of ATM accelerates pancreatic cancer formation and epithelial-mesenchymal transition.Nat Commun2015 Jul 29Russell Rdoi: 10.1038/ncomms8677.
18565893Risk of cancer by ATM missense mutations in the general population.J Clin Oncol2008 Jun 20Dombernowsky SLdoi: 10.1200/JCO.2007.14.6613.
12409306Identification of a novel protein kinase mediating Akt survival signaling to the ATM protein.J Biol Chem2003 Jan 3Suzuki A-
23878245Reactive nitrogen species regulate autophagy through ATM-AMPK-TSC2-mediated suppression of mTORC1.Proc Natl Acad Sci U S A2013 Aug 6Tripathi DNdoi: 10.1073/pnas.1307736110
18343821Determination of three-dimensional structure and residues of the novel tumor suppressor AIMP3/p18 required for the interaction with ATM.J Biol Chem2008 May 16Kim KJdoi: 10.1074/jbc.M800859200
22951905Phospho-??Np63α/SREBF1 protein interactions: bridging cell metabolism and cisplatin chemoresistance.Cell Cycle2012 Oct 15Huang Ydoi: 10.4161/cc.22022
16432227ATM promotes apoptosis and suppresses tumorigenesis in response to Myc.Proc Natl Acad Sci U S A2006 Jan 31Pusapati RV-
26662178Health risks for ataxia-telangiectasia mutated heterozygotes: a systematic review, meta-analysis and evidence-based guideline.Clin Genet2016 Augvan Os NJdoi: 10.1111/cge.12710
27959407Low-dose irradiation promotes proliferation of the human breast cancer MDA-MB-231 cells through accumulation of mutant P53.Int J Oncol2017 JanLi SJdoi: 10.3892/ijo.2016.3795
28691344Combined tumor genomic profiling and exome sequencing in a breast cancer family implicates ATM in tumorigenesis: A proof of principle study.Genes Chromosomes Cancer2017 NovBubien Vdoi: 10.1002/gcc.22482
29115439Low-dose irradiation inhibits proliferation of the p53null type human prostate cancer cells through the ATM/p21 pathway.Int J Mol Med2018 JanLi SJdoi: 10.3892/ijmm.2017.3237
30562756ATM-Mediated Phosphorylation of Cortactin Involved in Actin Polymerization Promotes Breast Cancer Cells Migration and Invasion.Cell Physiol Biochem2018Lang Ldoi: 10.1159/000496048
16914028ATM variants and cancer risk in breast cancer patients from Southern Finland.BMC Cancer2006 Aug 16Tommiska J-
27466510DNA Repair Gene Expression Levels as Indicators of Breast Cancer in the Breast Cancer Family Registry.Anticancer Res2016 AugKappil MA-
22276117The association between ATM IVS 22-77 T>C and cancer risk: a meta-analysis.PLoS One2012Zhao Ldoi: 10.1371/journal.pone.0029479
26506520Prevalence of deleterious ATM germline mutations in gastric cancer patients.Oncotarget2015 Dec 1Huang DSdoi: 10.18632/oncotarget.5944.
21187516Association between ataxia telangiectasia mutated gene polymorphisms and breast cancer in Taiwanese females.Anticancer Res2010 DecWang HC-
12612651ATM and related protein kinases: safeguarding genome integrity.Nat Rev Cancer2003 MarShiloh Y-
27542403MiR-203 inhibits tumor invasion and metastasis in gastric cancer by ATM.Acta Biochim Biophys Sin (Shanghai)2016 AugZhou Pdoi: 10.1093/abbs/gmw063
17428325Common variants in the ATM, BRCA1, BRCA2, CHEK2 and TP53 cancer susceptibility genes are unlikely to increase breast cancer risk.Breast Cancer Res2007Baynes C-
19153073Gene-body hypermethylation of ATM in peripheral blood DNA of bilateral breast cancer patients.Hum Mol Genet2009 Apr 1Flanagan JMdoi: 10.1093/hmg/ddp033
21108427Association between DNA repair gene ATM polymorphisms and oral cancer susceptibility.Laryngoscope2010 DecBau DTdoi: 10.1002/lary.21009.
12810666Contributions of ATM mutations to familial breast and ovarian cancer.Cancer Res2003 Jun 15Thorstenson YR-
22323184The role of ATM and 53BP1 as predictive markers in cervical cancer.Int J Cancer2012 Nov 1Roossink Fdoi: 10.1002/ijc.27488
23649938Ataxia-telangiectasia-mutated protein expression with microsatellite instability in gastric cancer as prognostic marker.Int J Cancer2014 Jan 1Kim JWdoi: 10.1002/ijc.28245
24023351Effects of ataxia telangiectasia mutated (ATM) genotypes and smoking habits on lung cancer risk in Taiwan.Anticancer Res2013 SepHsia TC-
27227554Effect of ATM-111 (G>A) Polymorphism on Cancer Risk: A Meta-Analysis.Genet Test Mol Biomarkers2016 JulHuang Sdoi: 10.1089/gtmb.2015.0320
28423511ATM kinase sustains breast cancer stem-like cells by promoting ATG4C expression and autophagy.Oncotarget2017 Mar 28Antonelli Mdoi: 10.18632/oncotarget.15537.
27599564Detection of ATM germline variants by the p53 mitotic centrosomal localization test in BRCA1/2-negative patients with early-onset breast cancer.J Exp Clin Cancer Res2016 Sep 6Prodosmo Adoi: 10.1186/s13046-016-0410-3.
28453388Susceptibility of ATM-deficient pancreatic cancer cells to radiation.Cell Cycle2017 May 19Ayars Mdoi: 10.1080/15384101.2017.1312236
30128886GLTSCR1, ATM, PPP1R13L and CD3EAP Genetic Variants and Lung Cancer Risk in a Chinese Population.Curr Med Sci2018 AugYin JYdoi: 10.1007/s11596-018-1938-6
25541996Effect of single nucleotide polymorphism Rs189037 in ATM gene on risk of lung cancer in Chinese: a case-control study.PLoS One2014 Dec 26Liu Jdoi: 10.1371/journal.pone.0115845
25862169Oxidative stress shapes breast cancer phenotype through chronic activation of ATM-dependent signaling.Breast Cancer Res Treat2015 MayAlpay Mdoi: 10.1007/s10549-015-3368-5
17333338Screening for ATM sequence alterations in African-American women diagnosed with breast cancer.Breast Cancer Res Treat2008 JanHirsch AE-
20354815Genetic polymorphisms in ATM, ERCC1, APE1 and iASPP genes and lung cancer risk in a population of southeast China.Med Oncol2011 SepDeng Qdoi: 10.1007/s12032-010-9507-2
23154512Loss of expression of the double strand break repair protein ATM is associated with worse prognosis in colorectal cancer and loss of Ku70 expression is associated with CIN.Oncotarget2012 NovBeggs AD-
23925578Association of the ATM gene polymorphisms with papillary thyroid cancer.Endocrine2014 AprGu Ydoi: 10.1007/s12020-013-0020-1
19071090ATM is required for rapid degradation of cyclin D1 in response to gamma-irradiation.Biochem Biophys Res Commun2009 Jan 23Choo DWdoi: 10.1016/j.bbrc.2008.11.132
15846060ATM activation in normal human tissues and testicular cancer.Cell Cycle2005 JunBartkova J-
19404735ATM germline mutations in women with familial breast cancer and a relative with haematological malignancy.Breast Cancer Res Treat2010 JanPaglia LLdoi: 10.1007/s10549-009-0396-z
25846551Profiling cancer gene mutations in longitudinal epithelial ovarian cancer biopsies by targeted next-generation sequencing: a retrospective study.Ann Oncol2015 JulBeltrame Ldoi: 10.1093/annonc/mdv164
19781682Rare, evolutionarily unlikely missense substitutions in ATM confer increased risk of breast cancer.Am J Hum Genet2009 OctTavtigian SVdoi: 10.1016/j.ajhg.2009.08.018
26778106The risk for developing cancer in Israeli ATM, BLM, and FANCC heterozygous mutation carriers.Cancer Genet2016 MarLaitman Ydoi: 10.1016/j.cancergen.2015.12.006
11805335Missense mutations but not allelic variants alter the function of ATM by dominant interference in patients with breast cancer.Proc Natl Acad Sci U S A2002 Jan 22Scott SP-
23776433Ataxia-telangiectasia group D complementing gene (ATDC) promotes lung cancer cell proliferation by activating NF-??B pathway.PLoS One2013 Jun 12Tang ZPdoi: 10.1371/journal.pone.0063676
18433505Association of common ATM variants with familial breast cancer in a South American population.BMC Cancer2008 Apr 23Gonz??lez-Hormaz??bal Pdoi: 10.1186/1471-2407-8-117.
22420423Low expression levels of ATM may substitute for CHEK2 /TP53 mutations predicting resistance towards anthracycline and mitomycin chemotherapy in breast cancer.Breast Cancer Res2012 Mar 15Knappskog S-
23686257Genistein induces G2/M cell cycle arrest and apoptosis via ATM/p53-dependent pathway in human colon cancer cells.Int J Oncol2013 JulZhang Zdoi: 10.3892/ijo.2013.1946
21127011Lower ataxia telangiectasia mutated (ATM) mRNA expression is correlated with poor outcome of laryngeal and pharyngeal cancer patients.Ann Oncol2011 MayLee KWdoi: 10.1093/annonc/mdq569
22200742Genetic polymorphisms and cervical cancer development: ATM G5557A and p53bp1 C1236G.Oncol Rep2012 AprOliveira Sdoi: 10.3892/or.2011.1609
15837784Down-regulation of ATM protein sensitizes human prostate cancer cells to radiation-induced apoptosis.J Biol Chem2005 Jun 17Truman JP-
21445571Germline ATM mutational analysis in BRCA1/BRCA2 negative hereditary breast cancer families by MALDI-TOF mass spectrometry.Breast Cancer Res Treat2011 JulGraa Bdoi: 10.1007/s10549-011-1462-x
26098866Loss-of-function variants in ATM confer risk of gastric cancer.Nat Genet2015 AugHelgason Hdoi: 10.1038/ng.3342
21034966The ATM-Chk2 and ATR-Chk1 pathways in DNA damage signaling and cancer.Adv Cancer Res2010Smith Jdoi: 10.1016/B978-0-12-380888-2.00003-0.
20513533High incidence of mutations in BRCA1 and BRCA2 genes in ovarian cancer.Bull Exp Biol Med2007 JulSmirnova TY-
23851489Functional interplay between the DNA-damage-response kinase ATM and ARF tumour suppressor protein in human cancer.Nat Cell Biol2013 AugVelimezi Gdoi: 10.1038/ncb2795
24480460Aurora-A controls cancer cell radio- and chemoresistance via ATM/Chk2-mediated DNA repair networks.Biochim Biophys Acta2014 MaySun Hdoi: 10.1016/j.bbamcr.2014.01.019
16832357ATM mutations that cause ataxia-telangiectasia are breast cancer susceptibility alleles.Nat Genet2006 AugRenwick A-
15880680Two ATM variants and breast cancer risk.Hum Mutat2005 JunThompson D-
21935375The phenotypic radiation resistance of CD44+/CD24(-or low) breast cancer cells is mediated through the enhanced activation of ATM signaling.PLoS One2011Yin Hdoi: 10.1371/journal.pone.0024080
24285016ATM down-regulation is associated with poor prognosis in sporadic breast carcinomas.Ann Oncol2014 JanBueno RCdoi: 10.1093/annonc/mdt421
17164260Effect of ATM, CHEK2 and ERBB2 TAGSNPs and haplotypes on endometrial cancer risk.Hum Mol Genet2007 Jan 15Einarsd??ttir K-
26625310Infiltrating mast cells increase prostate cancer chemotherapy and radiotherapy resistances via modulation of p38/p53/p21 and ATM signals.Oncotarget2016 Jan 12Xie Hdoi: 10.18632/oncotarget.6372.
16636671Identification of an ataxia telangiectasia-mutated protein mediated surveillance system to regulate Bcl-2 overexpression.Oncogene2006 Sep 14Zhang J-
16998505ATM and breast cancer susceptibility.Oncogene2006 Sep 25Ahmed M-
23328638Concordance of ATM (ataxia telangiectasia mutated) immunohistochemistry between biopsy or metastatic tumor samples and primary tumors in gastric cancer patients.Pathobiology2013Kim HSdoi: 10.1159/000346034
14983937ATM protein overexpression in prostate tumors: possible role in telomere maintenance.Am J Clin Pathol2004 FebAng??le S-
26030852ATM regulation of IL-8 links oxidative stress to cancer cell migration and invasion.Elife2015 Jun 1Chen WTdoi: 10.7554/eLife.07270.
24145123miR-203 induces oxaliplatin resistance in colorectal cancer cells by negatively regulating ATM kinase.Mol Oncol2014 FebZhou Ydoi: 10.1016/j.molonc.2013.09.004
24568192cAMP signaling inhibits radiation-induced ATM phosphorylation leading to the augmentation of apoptosis in human lung cancer cells.Mol Cancer2014 Feb 24Cho EAdoi: 10.1186/1476-4598-13-36.
20709753Selenium compounds activate ATM-dependent DNA damage response via the mismatch repair protein hMLH1 in colorectal cancer cells.J Biol Chem2010 Oct 22Qi Ydoi: 10.1074/jbc.M110.137406
18642075Promoter methylation patterns of ATM, ATR, BRCA1, BRCA2 and p53 as putative cancer risk modifiers in Jewish BRCA1/BRCA2 mutation carriers.Breast Cancer Res Treat2009 JulKontorovich Tdoi: 10.1007/s10549-008-0121-3
26517239The orally active and bioavailable ATR kinase inhibitor AZD6738 potentiates the anti-tumor effects of cisplatin to resolve ATM-deficient non-small cell lung cancer in vivo.Oncotarget2015 Dec 29Vendetti FPdoi: 10.18632/oncotarget.6247.
19723050Mechanism of beta-carotene-induced apoptosis of gastric cancer cells: involvement of ataxia-telangiectasia-mutated.Ann N Y Acad Sci2009 AugJang SHdoi: 10.1111/j.1749-6632.2009.04711.x.
26851027ER-Dependent Ca++-mediated Cytosolic ROS as an Effector for Induction of Mitochondrial Apoptotic and ATM-JNK Signal Pathways in Gallic Acid-treated Human Oral Cancer Cells.Anticancer Res2016 FebLu YC-
21058196Antioxidant vitamins intake, ataxia telangiectasia mutated (ATM) genetic polymorphisms, and breast cancer risk.Nutr Cancer2010Lee SAdoi: 10.1080/01635581.2010.492088.
14553952ATM gene mutations are not involved in medulloblastoma in children.Cancer Genet Cytogenet2003 Oct 15Liberzon E-
18557994Are the so-called low penetrance breast cancer genes, ATM, BRIP1, PALB2 and CHEK2, high risk for women with strong family histories?Breast Cancer Res2008Byrnes GBdoi: 10.1186/bcr2099
24469230ATDC/TRIM29 phosphorylation by ATM/MAPKAP kinase 2 mediates radioresistance in pancreatic cancer cells.Cancer Res2014 Mar 15Wang Ldoi: 10.1158/0008-5472.CAN-13-2289
22203481Association between ATM polymorphisms and cancer risk: a meta-analysis.Mol Biol Rep2012 MayShen Ldoi: 10.1007/s11033-011-1381-2
18497957Contribution of mutations in ATM to breast cancer development in the Czech population.Oncol Rep2008 JunSoukupova J-
15928302Cancer risks and mortality in heterozygous ATM mutation carriers.J Natl Cancer Inst2005 Jun 1Thompson D-
25014427ATM polymorphisms IVS24-9delT, IVS38-8T>C, and 5557G>A in Mexican women with familial and/or early-onset breast cancer.Salud Publica Mex2014 AprCalder??n-Z??iga Fdel C-
20665102Association between polymorphisms of the ataxia telangiectasia mutated gene and breast cancer risk: evidence from the current studies.Breast Cancer Res Treat2011 FebLu PHdoi: 10.1007/s10549-010-1081-y
11897822ATM mutations in Finnish breast cancer patients.J Med Genet2002 MarAllinen M-
18701470Variants in the ATM gene associated with a reduced risk of contralateral breast cancer.Cancer Res2008 Aug 15Concannon Pdoi: 10.1158/0008-5472.CAN-08-0134.
23681803Ataxia-telangiectasia group D complementing gene (ATDC) upregulates matrix metalloproteinase 9 (MMP-9) to promote lung cancer cell invasion by activating ERK and JNK pathways.Tumour Biol2013 OctTang ZPdoi: 10.1007/s13277-013-0843-7
22072393Gene-gene interactions in breast cancer susceptibility.Hum Mol Genet2012 Feb 15Turnbull Cdoi: 10.1093/hmg/ddr525
19401701Activation of ATM/Chk1 by curcumin causes cell cycle arrest and apoptosis in human pancreatic cancer cells.Br J Cancer2009 May 5Sahu RPdoi: 10.1038/sj.bjc.6605039.
17431766Two-stage case-control study of common ATM gene variants in relation to breast cancer risk.Breast Cancer Res Treat2007 NovYe C-
25970706Oxidized ATM promotes abnormal proliferation of breast CAFs through maintaining intracellular redox homeostasis and activating the PI3K-AKT, MEK-ERK, and Wnt-β-catenin signaling pathways.Cell Cycle2015Tang Sdoi: 10.1080/15384101.2015.1041685.
20338046DNA methylation profiling in doxorubicin treated primary locally advanced breast tumours identifies novel genes associated with survival and treatment response.Mol Cancer2010 Mar 25Dejeux Edoi: 10.1186/1476-4598-9-68.
19302790ATM blocks tunicamycin-induced endoplasmic reticulum stress.FEBS Lett2009 Mar 4He Ldoi: 10.1016/j.febslet.2009.02.002
25425972Clinicopathological significance of ATM-Chk2 expression in sporadic breast cancers: a comprehensive analysis in large cohorts.Neoplasia2014 Nov 20Abdel-Fatah TMdoi: 10.1016/j.neo.2014.09.009
12362033Constitutional alterations of the ATM gene in early onset sporadic breast cancer.J Med Genet2002 OctMaillet P-
20004998ATM polymorphisms and risk of lung cancer among never smokers.Lung Cancer2010 AugLo YLdoi: 10.1016/j.lungcan.2009.11.007
17351744ATM allelic variants associated to hereditary breast cancer in 94 Chilean women: susceptibility or ethnic influences?Breast Cancer Res Treat2008 JanTapia T-
21787400Rare variants in the ATM gene and risk of breast cancer.Breast Cancer Res2011 Jul 25Goldgar DEdoi: 10.1186/bcr2919.
19028473Kaempferol induces apoptosis in human HCT116 colon cancer cells via the Ataxia-Telangiectasia Mutated-p53 pathway with the involvement of p53 Upregulated Modulator of Apoptosis.Chem Biol Interact2009 Jan 27Li Wdoi: 10.1016/j.cbi.2008.10.048
16533773Expression of DNA double-strand break repair proteins ATM and BRCA1 predicts survival in colorectal cancer.Clin Cancer Res2006 Mar 1Grabsch H-
26825989Enhanced gefitinib-induced repression of the epidermal growth factor receptor pathway by ataxia telangiectasia-mutated kinase inhibition in non-small-cell lung cancer cells.Cancer Sci2016 AprMisumi Kdoi: 10.1111/cas.12899
22374981Intragenic ATM methylation in peripheral blood DNA as a biomarker of breast cancer risk.Cancer Res2012 May 1Brennan Kdoi: 10.1158/0008-5472.CAN-11-3157
21603857Association between ATM 5557G>A polymorphism and breast cancer risk: a meta-analysis.Mol Biol Rep2012 FebMao Cdoi: 10.1007/s11033-011-0839-6
17166884Evaluation of the role of Finnish ataxia-telangiectasia mutations in hereditary predisposition to breast cancer.Carcinogenesis2007 MayPylks K-
15390180Cancer risk according to type and location of ATM mutation in ataxia-telangiectasia families.Genes Chromosomes Cancer2005 JanCavaciuti E-
23857602Estrogen receptor α regulates ATM Expression through miRNAs in breast cancer.Clin Cancer Res2013 Sep 15Guo Xdoi: 10.1158/1078-0432.CCR-12-3700
18164969Detection of ATM gene mutations in young lung cancer patients: a population-based control study.Arch Med Res2008 FebSchneider Jdoi: 10.1016/j.arcmed.2007.08.004
23561644Exome sequencing identifies nonsegregating nonsense ATM and PALB2 variants in familial pancreatic cancer.Hum Genomics2013 Apr 5Grant RCdoi: 10.1186/1479-7364-7-11.
12072552Re: Dominant negative ATM mutations in breast cancer families.J Natl Cancer Inst2002 Jun 19Lei H-
17001622Characterization of the breast cancer associated ATM 7271T>G (V2424G) mutation by gene expression profiling.Genes Chromosomes Cancer2006 DecWaddell N-
20799949The association between ATM D1853N polymorphism and breast cancer susceptibility: a meta-analysis.J Exp Clin Cancer Res2010 Aug 27Gao LBdoi: 10.1186/1756-9966-29-117.
26505164Elevated Expression of Hepatoma Up-Regulated Protein Inhibits γ-Irradiation-Induced Apoptosis of Prostate Cancer Cells.J Cell Biochem2016 JunHassan Mdoi: 10.1002/jcb.25419
25849217Common variants at 9q22.33, 14q13.3, and ATM loci, and risk of differentiated thyroid cancer in the French Polynesian population.PLoS One2015 Apr 7Maillard Sdoi: 10.1371/journal.pone.0123700
11830600Consortium piecing together role of ATM gene in breast cancer.J Natl Cancer Inst2002 Feb 6Finkel E-
20177704From the set-up of a screening program of breast cancer patients to the identification of the first BRCA mutation in the DR Congo.BMC Public Health2014 Jul 28Luyeye Mvila Gdoi: 10.1186/1471-2458-14-759.
25069040The role of oxidized ATM in the regulation of oxidative stress-induced energy metabolism reprogramming of CAFs.Cancer Lett2014 Oct 28Tang Sdoi: 10.1016/j.canlet.2014.07.028
25881002ATM kinase sustains HER2 tumorigenicity in breast cancer.Nat Commun2015 Apr 16Stagni Vdoi: 10.1038/ncomms7886.
18634022Functional and computational assessment of missense variants in the ataxia-telangiectasia mutated (ATM) gene: mutations with increased cancer risk.Hum Mutat2009 JanMitui Mdoi: 10.1002/humu.20805.
17510082Aspirin blocks proliferation in colon cells by inducing a G1 arrest and apoptosis through activation of the checkpoint kinase ATM.Carcinogenesis2007 OctLuciani MG-
19661334A common 9 bp deletion in the ataxia-telangiectasia-mutated gene is not associated with oral cancer.Anticancer Res2009 AugSpyridonidou S-
24553124ATM controls proper mitotic spindle structure.Cell Cycle2014Palazzo Ldoi: 10.4161/cc.27945
20544271Lack of association between ATM C.1066-6T > G mutation and breast cancer risk: a meta-analysis of 8,831 cases and 4,957 controls.Breast Cancer Res Treat2011 JanDing Hdoi: 10.1007/s10549-010-0977-x
16652348The ATM missense mutation p.Ser49Cys (c.146C>G) and the risk of breast cancer.Hum Mutat2006 JunStredrick DL-
11996792Elevated frequency of ATM gene missense mutations in breast cancer relative to ethnically matched controls.Cancer Genet Cytogenet2002 Apr 1Sommer SS-
25247188Multifunctional role of ATM/Tel1 kinase in genome stability: from the DNA damage response to telomere maintenance.Biomed Res Int2014Di Domenico EGdoi: 10.1155/2014/787404
18807267A nonsense mutation (E1978X) in the ATM gene is associated with breast cancer.Breast Cancer Res Treat2009 NovBogdanova Ndoi: 10.1007/s10549-008-0189-9
24486587Having pancreatic cancer with tumoral loss of ATM and normal TP53 protein expression is associated with a poorer prognosis.Clin Cancer Res2014 Apr 1Kim Hdoi: 10.1158/1078-0432.CCR-13-1239
24252502ATM-depletion in breast cancer cells confers sensitivity to PARP inhibition.J Exp Clin Cancer Res2013 Nov 19Gilardini Montani MSdoi: 10.1186/1756-9966-32-95.
18264724Single nucleotide polymorphism D1853N of the ATM gene may alter the risk for breast cancer.J Cancer Res Clin Oncol2008 AugSchrauder Mdoi: 10.1007/s00432-008-0355-9
17517479Possession of ATM sequence variants as predictor for late normal tissue responses in breast cancer patients treated with radiotherapy.Int J Radiat Oncol Biol Phys2007 Nov 1Ho AY-
27918549A hypoxia-responsive TRAF6-ATM-H2AX signalling axis promotes HIF1α activation, tumorigenesis andmetastasis.Nat Cell Biol2017 JanRezaeian AHdoi: 10.1038/ncb3445
28259977miR-30a radiosensitizes non-small cell lung cancer by targeting ATF1 that is involved in the phosphorylation of ATM.Oncol Rep2017 AprGuo Ydoi: 10.3892/or.2017.5448
27112364Penetrance of ATM Gene Mutations in Breast Cancer: A Meta-Analysis of Different Measures of Risk.Genet Epidemiol2016 JulMarabelli Mdoi: 10.1002/gepi.21971
26965143Constitutive Activation of DNA Damage Checkpoint Signaling Contributes to Mutant p53 Accumulation via Modulation of p53 Ubiquitination.Mol Cancer Res2016 MayFrum RAdoi: 10.1158/1541-7786.MCR-15-0363
27595995PALB2, CHEK2 and ATM rare variants and cancer risk: data from COGS.J Med Genet2016 DecSouthey MCdoi: 10.1136/jmedgenet-2016-103839
27464310Incorporating truncating variants in PALB2, CHEK2, and ATM into the BOADICEA breast cancer risk model.Genet Med2016 DecLee AJdoi: 10.1038/gim.2016.31
28418444Associations Between Cancer Predisposition Testing Panel Genes and Breast Cancer.JAMA Oncol2017 Sep 1Couch FJdoi: 10.1001/jamaoncol.2017.0424.
28981872Telomere length, ATM mutation status and cancer risk in Ataxia-Telangiectasia families.Carcinogenesis2017 Oct 1Renault ALdoi: 10.1093/carcin/bgx074.
27329169Loss of ataxia-telangiectasia-mutated protein expression correlates with poor prognosis but benefits from anthracycline-containing adjuvant chemotherapy in breast cancer.Breast Cancer Res Treat2016 JulSuh KJdoi: 10.1007/s10549-016-3869-x
27913932Almost 2% of Spanish breast cancer families are associated to germline pathogenic mutations in the ATM gene.Breast Cancer Res Treat2017 FebTavera-Tapia Adoi: 10.1007/s10549-016-4058-7
27317574DNA Repair Deficiency Is Common in Advanced Prostate Cancer: New Therapeutic Opportunities.Oncologist2016 AugDhawan Mdoi: 10.1634/theoncologist.2016-0135
27764772Gene-environment interaction for polymorphisms in ataxia telangiectasia-mutated gene and radiation exposure in carcinogenesis: results from two literature-based meta-analyses of 27120 participants.Oncotarget2016 Nov 22Zhao Ydoi: 10.18632/oncotarget.12724.
27472395IGF-1R inhibition sensitizes breast cancer cells to ATM-related kinase (ATR) inhibitor and cisplatin.Oncotarget2016 Aug 30O'Flanagan CHdoi: 10.18632/oncotarget.10862.
28055970Genomic analysis of exceptional responders to radiotherapy reveals somatic mutations in ATM.Oncotarget2017 Feb 7Ma Jdoi: 10.18632/oncotarget.14400.
28058614Simultaneous ATM/BRCA1/RAD51 expression variations associated with prognostic factors in Iranian sporadic breast cancer patients.Breast Cancer2017 JulHallajian Zdoi: 10.1007/s12282-016-0750-z
28418844Loss of tumour-specific ATM protein expression is an independent prognostic factor in early resected NSCLC.Oncotarget2017 Jun 13Petersen LFdoi: 10.18632/oncotarget.16215.
27602502Phenotypic consequences of somatic mutations in the ataxia-telangiectasia mutated gene in non-small cell lung cancer.Oncotarget2016 Sep 20Weber AMdoi: 10.18632/oncotarget.11845.
28647209Decreased expression of the ATM gene linked to poor prognosis for gastric cancer of different nationalities in Xinjiang.Pathol Res Pract2017 AugHan Mdoi: 10.1016/j.prp.2017.05.012
28756982A meta-analysis of the relationship between ataxia-telangiectasia mutated gene polymorphisms and lung cancer susceptibility.Pathol Res Pract2017 SepXu Ydoi: 10.1016/j.prp.2017.07.003
28825373The role of the ataxia telangiectasia mutated gene in lung cancer: recent advances in research.Ther Adv Respir Dis2017 SepXu Ydoi: 10.1177/1753465817725716
28779002Rare, protein-truncating variants in ATM, CHEK2 and PALB2, but not XRCC2, are associated with increased breast cancer risks.J Med Genet2017 NovDecker Bdoi: 10.1136/jmedgenet-2017-104588
29246212Association between ATM gene polymorphisms, lung cancer susceptibility and radiation-induced pneumonitis: a meta-analysis.BMC Pulm Med2017 Dec 15Yan Zdoi: 10.1186/s12890-017-0555-7.
29562656Evaluation of Promoter Methylation of RASSF1A and ATM in Peripheral Blood of Breast Cancer Patients and Healthy Control Individuals.Int J Mol Sci2018 Mar 19Cao Xdoi: 10.3390/ijms19030900.
27692705Extreme Response to High-dose Testosterone in BRCA2- and ATM-mutated Prostate Cancer.Eur Urol2017 MarTeply BAdoi: 10.1016/j.eururo.2016.09.020
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29522753ATM inhibition induces synthetic lethality and enhances sensitivity of PTEN-deficient breast cancer cells to cisplatin.Exp Cell Res2018 May 1Li Kdoi: 10.1016/j.yexcr.2018.03.006
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29665859Morphology and genomic hallmarks of breast tumours developed by ATM deleterious variant carriers.Breast Cancer Res2018 Apr 17Renault ALdoi: 10.1186/s13058-018-0951-9.
28808232Analysis of the ATR-Chk1 and ATM-Chk2 pathways in male breast cancer revealed the prognostic significance of ATR expression.Sci Rep2017 Aug 14Di Benedetto Adoi: 10.1038/s41598-017-07366-7.

Expression in 33 cancers

Mutations
CancerChrPosition Mutation TypedbSNPProtein-change Allele FreqRBD
ACCchr11108365322Splice_Regionnovel0.23
ACCchr11108252900Frame_Shift_DelnovelS629Tfs*200.37
ACCchr11108267329SilentnovelS875S0.2
ACCchr11108271359Frame_Shift_DelnovelT1011Kfs*70.89
ACCchr11108365417Missense_MutationnovelS3027I0.61
ACCchr11108227691Nonsense_Mutationrs746235533R23*0.92
BLCAchr11108249059Missense_MutationnovelD398H0.1
BLCAchr11108257514Missense_MutationnovelL762V0.3
BLCAchr11108284226Splice_Siters730881364X1249_splice0.77
BLCAchr11108304801Nonsense_Mutationrs376603775R1875*0.44
BLCAchr11108244976Missense_MutationnovelQ284P0.53
BLCAchr11108244076Missense_MutationNAS207C0.37
BLCAchr11108244900Missense_MutationNAL259F0.05
BLCAchr11108271401Frame_Shift_InsNAW1026Lfs*220.13
BLCAchr11108327644Splice_SitenovelX2326_splice0.78
BLCAchr11108299821Missense_MutationnovelD1705N0.19
BLCAchr11108251902Missense_MutationNAG558V0.16
BLCAchr11108330288Missense_MutationnovelR2461P0.19
BLCAchr11108327745Missense_MutationnovelT2359N0.27
BLCAchr11108257571Nonsense_MutationnovelQ781*0.56
BLCAchr11108301760Missense_MutationnovelL1764I0.59
BLCAchr11108365149Missense_MutationnovelR2973T0.32
BLCAchr11108229239Missense_MutationnovelS83A0.1
BLCAchr11108247012Missense_MutationNAD317G0.38
BLCAchr11108325398Nonsense_MutationnovelE2221*0.32
BLCAchr11108335096Missense_MutationNAR2713K0.06
BLCAchr11108281093SilentnovelI1167I0.57
BLCAchr11108282770Missense_MutationnovelH1213N0.42
BLCAchr11108331951Missense_MutationnovelR2568G0.59
BLCAchr11108247048Missense_MutationnovelR329T0.44
BLCAchr11108235756Missense_Mutationrs55633650D140H0.49
BLCAchr11108347356Missense_MutationNAI2888L0.39
BLCAchr11108244873Nonsense_Mutationrs772821016R250*0.57
BLCAchr11108251032Missense_MutationnovelF523V0.51
BLCAchr11108287645Missense_MutationnovelL1347V0.46
BLCAchr11108315829Missense_MutationnovelL2005I0.39
BLCAchr11108289732Missense_MutationNAG1456D0.19
BLCAchr11108249075Nonsense_MutationnovelS403*0.37
BLCAchr11108295056Nonsense_MutationnovelQ1636*0.35
BLCAchr11108347359Missense_Mutationrs587781814D2889H0.42
BLCAchr11108310236Missense_MutationnovelS1947P0.27
BLCAchr11108304693Nonsense_Mutationrs786204751Q1839*0.4
BLCAchr11108316030Missense_MutationNAE2039K0.2
BLCAchr11108251897SilentNAK556K0.45
BLCAchr11108326185In_Frame_DelnovelQ2314_K2317del0.2
BLCAchr11108321339Missense_MutationnovelE2164G0.11
BLCAchr11108365147Missense_MutationnovelQ2972H0.43
BLCAchr11108282880Splice_SitenovelX1249_splice0.27
BLCAchr11108304693Nonsense_Mutationrs786204751Q1839*1
BLCAchr11108335871SilentNAA2726A0.5
BLCAchr11108333885Splice_SitenovelX2643_splice0.71
BLCAchr11108284306Nonsense_MutationnovelQ1276*0.35
BLCAchr11108289761Nonsense_Mutationrs730881369R1466*0.42
BLCAchr11108247072Missense_Mutationrs202160435R337H0.44
BLCAchr11108267234Missense_MutationnovelG844R0.41
BLCAchr11108289667SilentnovelK1434K0.96
BLCAchr11108347344Missense_MutationnovelE2884Q0.29
BLCAchr11108321338Missense_MutationNAE2164Q0.19
BLCAchr11108326064Nonsense_MutationnovelE2272*0.24
BLCAchr11108317454Missense_MutationNAE2094K0.21
BLCAchr11108321338Missense_MutationNAE2164Q0.12
BLCAchr11108304797SilentNAC1873C0.34
BLCAchr11108282755Missense_MutationnovelD1208N0.23
BLCAchr11108316027Missense_MutationnovelH2038N0.83
BLCAchr11108235810Missense_MutationNAE158Q0.75
BLCAchr11108325309Splice_SiteNAX2191_splice0.75
BLCAchr11108247029Missense_Mutationrs587781511I323V0.1
BLCAchr11108365337Missense_MutationNAQ3000H0.23
BLCAchr11108365356Missense_MutationNAE3007K0.25
BLCAchr11108365401Nonsense_MutationNAE3022*0.27
BLCAchr11108267291Missense_MutationnovelD863N0.33
BLCAchr11108271273Missense_Mutationrs587779830R982C0.47
BLCAchr11108335096Missense_MutationNAR2713K0.56
BLCAchr11108329045Missense_MutationnovelD2372N0.23
BRCAchr11108299785Missense_MutationNAD1693N0.44
BRCAchr111083655923'UTRnovel0.09
BRCAchr11108289784Splice_SitenovelX1474_splice0.6
BRCAchr11108310284Missense_MutationnovelD1963Y0.09
BRCAchr11108347318Missense_Mutationrs587782451N2875S0.65
BRCAchr11108295300Intronnovel0.12
BRCAchr11108258996Missense_MutationNAN796T0.29
BRCAchr11108316010Splice_SiteNAX2032_splice0.26
BRCAchr11108365208Nonsense_Mutationrs770641163R2993*0.37
BRCAchr11108253839Missense_MutationNAE642K0.73
BRCAchr11108253898Frame_Shift_InsNAL663Ffs*420.19
BRCAchr11108330271SilentNAL2455L0.15
BRCAchr11108335851Missense_MutationNAD2720N0.14
BRCAchr11108343292Missense_MutationNAL2780R0.54
BRCAchr11108365476Nonsense_Mutationrs121434219R3047*0.41
BRCAchr111083677063'UTRnovel0.24
BRCAchr11108250827SilentnovelY454Y0.05
BRCAchr11108287573Intronnovel0.33
BRCAchr11108365208Nonsense_Mutationrs770641163R2993*0.64
BRCAchr11108312485Missense_MutationNAG1998E0.47
BRCAchr11108333935SilentnovelL2659L0.1
BRCAchr11108330234Missense_Mutationrs587782310R2443Q0.81
BRCAchr11108325542Nonsense_MutationNAQ2269*0.4
BRCAchr11108256236Missense_MutationNAV716L0.85
BRCAchr11108229307SilentNAI105I0.21
BRCAchr11108249001Missense_MutationNAS378R0.28
BRCAchr11108330216Missense_MutationNAY2437C0.16
BRCAchr11108302954SilentNAK1807K0.05
BRCAchr11108293460Missense_MutationnovelP1587T0.08
BRCAchr11108289078Missense_MutationnovelI1404S0.16
BRCAchr11108343351Nonsense_MutationnovelQ2800*0.04
BRCAchr11108256302Missense_MutationNAE738K0.05
BRCAchr11108250761SilentNAL432L0.32
CESCchr11108252908Missense_MutationNAE632K0.21
CESCchr11108259008Missense_MutationNAS800F0.51
CESCchr11108279581Missense_MutationnovelL1125F0.29
CESCchr11108282815Missense_MutationNAE1228K0.18
CESCchr11108292758Frame_Shift_InsnovelP1526Lfs*50.06
CESCchr11108335859SilentnovelL2722L0.1
CESCchr11108289675Missense_MutationNAR1437K0.44
CESCchr11108245000Missense_Mutationrs747727055P292L0.43
CESCchr11108251846SilentnovelV539V0.32
CESCchr11108267314Silentrs587780618N870N0.33
CESCchr111083655293'UTRnovel0.45
CESCchr11108307977Nonsense_MutationNAQ1919*0.21
CESCchr11108294947Frame_Shift_DelnovelS1601Ffs*70.48
CESCchr11108252018Missense_MutationNAP597A0.11
CESCchr11108329187Missense_MutationNAR2419T0.86
CESCchr111083679023'UTRnovel0.45
CHOLchr11108250966Missense_MutationnovelQ501K0.67
CHOLchr11108252902Missense_MutationnovelV630L0.09
COADchr11108247071Missense_Mutationrs138398778R337C0.36
COADchr11108293437Frame_Shift_DelNAI1581Sfs*200.25
COADchr11108326173Missense_MutationnovelA2308V0.13
COADchr11108259022Nonsense_Mutationrs780619951R805*0.65
COADchr11108244873Nonsense_Mutationrs772821016R250*0.27
COADchr11108297373Nonsense_MutationNAE1666*0.26
COADchr11108327726Missense_MutationNAP2353T0.32
COADchr11108247071Missense_Mutationrs138398778R337C0.26
COADchr11108310311Frame_Shift_DelNAR1973Efs*170.26
COADchr11108245022Missense_MutationnovelE299D0.17
COADchr11108325378Missense_MutationnovelD2214G0.13
COADchr11108332766Missense_Mutationrs140263969R2598Q0.21
COADchr11108259073Missense_MutationnovelL822V0.21
COADchr11108295089Intronnovel0.21
COADchr11108334984Nonsense_MutationnovelE2676*0.24
COADchr11108259022Nonsense_Mutationrs780619951R805*0.43
COADchr11108251987Missense_MutationNAE586D0.17
COADchr11108247071Missense_Mutationrs138398778R337C0.29
COADchr11108294937Missense_MutationnovelH1596P0.06
COADchr11108301790Splice_SitenovelX1773_splice0.86
COADchr11108284225Splice_SitenovelX1249_splice0.39
COADchr11108301647Splice_SitenovelX1726_splice0.39
COADchr11108329236Missense_MutationNAN2435K0.38
COADchr11108247072Missense_Mutationrs202160435R337H0.37
COADchr11108330216Missense_MutationNAY2437C0.33
COADchr11108289697Frame_Shift_InsNAV1446Cfs*20.25
COADchr11108310270Missense_MutationNAA1958V0.31
COADchr11108247083Missense_Mutationrs200601781V341I0.04
COADchr11108252889Frame_Shift_DelnovelF627Sfs*220.4
COADchr11108245000Missense_Mutationrs747727055P292L0.7
COADchr11108327731SilentnovelA2354A0.07
COADchr11108347309Missense_MutationnovelH2872R0.36
COADchr11108353856Missense_Mutationrs730881329T2921M0.45
COADchr11108335854Missense_MutationnovelD2721N0.35
COADchr11108289075Missense_MutationnovelS1403N0.09
COADchr11108345750Frame_Shift_Delrs759472682K2811Sfs*460.34
COADchr11108244090Frame_Shift_DelNAS214Pfs*160.39
COADchr11108289008Missense_MutationnovelF1381L0.04
COADchr11108292648Missense_Mutationrs201594549R1489H0.38
COADchr11108227882Frame_Shift_DelNAF61Lfs*150.54
COADchr11108343260Nonsense_Mutationrs778269655W2769*0.4
COADchr11108330233Nonsense_Mutationrs121434220R2443*0.37
COADchr11108326153Frame_Shift_DelnovelK2303Rfs*70.12
COADchr11108267314Silentrs587780618N870N0.18
COADchr11108281098Frame_Shift_DelNAK1170Nfs*110.26
COADchr11108335921Missense_Mutationrs730881321T2743M0.24
COADchr11108254037Nonsense_MutationnovelE708*0.44
COADchr11108293438Missense_MutationnovelQ1579H0.23
COADchr11108250960Missense_MutationNAQ499E0.47
COADchr11108297299Frame_Shift_InsnovelG1642Wfs*230.78
COADchr11108271399Missense_MutationnovelA1024T0.3
COADchr11108316029Silentrs774993357H2038H0.32
COADchr11108325426Frame_Shift_DelNAL2231Wfs*40.52
COADchr11108304687Frame_Shift_DelnovelC1838Vfs*80.42
COADchr11108271401Frame_Shift_InsNAW1026Lfs*220.36
COADchr11108292698Missense_MutationnovelV1506M0.2
COADchr11108244873Nonsense_Mutationrs772821016R250*0.24
COADchr11108252848Missense_Mutationrs747242300L612I0.11
COADchr11108295002Nonsense_Mutationrs762083530R1618*0.1
COADchr11108271274Missense_MutationnovelR982L0.12
COADchr11108244120Splice_SiteNAX221_splice0.34
COADchr11108250942Missense_Mutationrs750280306R493C0.36
COADchr11108282874Missense_MutationNAF1247L0.4
COADchr11108304801Nonsense_Mutationrs376603775R1875*0.32
COADchr11108302997Nonsense_MutationNAE1822*0.7
COADchr11108299878Missense_MutationnovelE1724Q0.27
COADchr11108271273Missense_Mutationrs587779830R982C0.27
COADchr11108247071Missense_Mutationrs138398778R337C0.37
COADchr11108326153Frame_Shift_DelnovelK2303Rfs*70.37
COADchr11108284473Splice_RegionNAQ1331Q0.18
COADchr11108251903SilentNAG558G0.33
COADchr11108329220Missense_Mutationrs786202856H2430R0.3
COADchr11108250896Missense_MutationNAK477N0.17
COADchr11108301658Nonsense_Mutationrs764389018R1730*0.29
COADchr11108317403Missense_MutationNAL2077I0.19
COADchr11108315825Missense_MutationNAD2003E0.12
COADchr11108293459Frame_Shift_DelnovelP1587Ffs*130.08
COADchr11108329168Frame_Shift_InsnovelK2413Tfs*110.06
COADchr11108335026In_Frame_InsnovelF2690delinsYII0.12
COADchr11108316015Nonsense_Mutationrs532480170R2034*0.21
COADchr11108297025Intronnovel0.5
COADchr11108310315Missense_MutationNAR1973I0.37
COADchr11108365426Missense_MutationNAG3030V0.23
COADchr11108294972Frame_Shift_InsnovelT1609*0.23
COADchr11108329204Frame_Shift_DelNAG2425Vfs*150.33
COADchr11108365360Missense_Mutationrs587781894R3008H0.41
DLBCchr11108331991Missense_MutationnovelS2581T0.26
ESCAchr11108332854SilentnovelY2627Y0.29
ESCAchr11108279550Missense_MutationnovelL1115P0.29
ESCAchr11108315862Missense_MutationnovelD2016H0.31
ESCAchr11108293374Missense_Mutationrs587781712T1558M0.2
ESCAchr11108284472Missense_MutationnovelQ1331R0.1
ESCAchr11108272801Missense_MutationnovelL1078R0.15
ESCAchr11108343255Missense_MutationnovelE2768Q0.1
GBMchr11108330381Missense_Mutationrs56399857L2492R0.28
GBMchr11108279585Missense_MutationnovelA1127T0.21
GBMchr11108301728Missense_Mutationrs777481236Y1753C0.51
GBMchr11108250940Missense_MutationnovelF492C0.39
GBMchr11108268521Missense_MutationnovelS917F0.46
GBMchr11108289015Missense_Mutationrs141087784S1383L0.38
GBMchr11108292782Missense_MutationnovelV1534I0.2
GBMchr11108329155Frame_Shift_DelnovelE2409Nfs*90.19
HNSCchr11108353791Missense_MutationnovelI2899M0.42
HNSCchr11108365193Missense_MutationnovelD2988N0.08
HNSCchr11108335953Missense_Mutationrs587781414T2754A0.23
HNSCchr11108327667Missense_Mutationrs150503164T2333I0.34
HNSCchr11108354818Missense_MutationnovelE2932K0.29
HNSCchr11108235710SilentnovelI124I0.26
HNSCchr11108289679SilentnovelI1438I0.09
HNSCchr11108247071Missense_Mutationrs138398778R337C0.79
HNSCchr11108272725Missense_MutationnovelD1053N0.23
HNSCchr11108244837Missense_Mutationrs754275014I238V0.31
HNSCchr11108272557Missense_MutationnovelI1035V0.3
HNSCchr11108302995Nonsense_MutationnovelC1821*0.1
HNSCchr11108365326Missense_MutationnovelD2997N0.41
HNSCchr11108325449Missense_MutationnovelE2238Q0.11
HNSCchr11108335940Missense_MutationnovelK2749N0.54
HNSCchr11108301645Splice_Regionnovel0.2
HNSCchr11108292698Missense_MutationnovelV1506M0.11
HNSCchr11108343257Silentrs756686570E2768E0.75
HNSCchr11108250701Missense_MutationnovelW412C0.14
KICHchr11108256261Missense_MutationnovelG724V0.31
KICHchr11108330287Missense_Mutationrs201314561R2461C0.58
KIRCchr11108256336Frame_Shift_DelnovelK750Sfs*30.31
KIRCchr11108271147Splice_Siters587781558X974_splice0.08
KIRCchr11108316109Frame_Shift_DelnovelQ2066Rfs*160.31
KIRCchr11108365347Missense_MutationNAK3004E0.13
KIRCchr11108268425Frame_Shift_DelnovelA886Kfs*120.14
KIRCchr11108279573Missense_MutationnovelA1123T0.13
KIRCchr11108299741Missense_MutationNAV1678G0.25
KIRCchr11108271089Missense_MutationNAP955L0.05
KIRCchr11108330386Missense_MutationNAN2494Y0.32
KIRCchr11108332890Frame_Shift_DelNAT2640Lfs*60.34
KIRCchr11108288972Splice_SitenovelX1370_splice0.23
KIRCchr11108250952Frame_Shift_DelnovelS496Ifs*160.17
KIRCchr11108331987Nonsense_MutationNAR2580*0.21
KIRCchr11108335845Missense_MutationNAG2718R0.5
KIRCchr11108325528Missense_MutationNAT2264I0.21
KIRCchr11108244873Nonsense_Mutationrs772821016R250*0.3
KIRCchr11108256335Missense_MutationNAA749T0.33
KIRCchr11108268497Missense_MutationnovelT909I0.22
KIRCchr11108329186Nonsense_MutationNAR2419*0.28
KIRPchr11108365352SilentnovelV3005V0.73
KIRPchr11108343246Missense_Mutationrs748634900G2765S0.05
KIRPchr11108335882Missense_MutationNAQ2730P0.34
KIRPchr11108272609Splice_SiteNAX1051_splice0.1
KIRPchr11108284475Splice_SiteNAX1331_splice0.35
LAMLchr11108267268Missense_MutationnovelM855K0.18
LAMLchr11108327698Missense_MutationnovelN2343K0.2
LAMLchr11108345837Missense_MutationnovelK2838I0.07
LGGchr11108254032Nonsense_MutationnovelS706*0.39
LGGchr11108250763Missense_MutationnovelS433Y0.13
LGGchr11108251848Missense_MutationNAC540Y0.44
LGGchr11108282862SilentnovelN1243N0.09
LGGchr11108295003Missense_Mutationrs765759912R1618Q0.44
LGGchr11108287653In_Frame_DelnovelT1350del0.94
LIHCchr11108297284Splice_Regionnovel0.38
LIHCchr11108247071Missense_Mutationrs138398778R337C0.32
LIHCchr11108256305Nonsense_MutationNAE739*0.38
LIHCchr11108304719SilentNAH1847H0.43
LIHCchr11108267304Missense_MutationNAS867T0.47
LIHCchr11108335880Missense_Mutationrs587781946Q2729H0.56
LIHCchr11108329214Missense_MutationnovelR2428T0.1
LIHCchr11108334967Splice_SitenovelX2671_splice0.56
LIHCchr11108301772Missense_MutationNAR1768G0.13
LIHCchr11108244111Missense_MutationnovelC219S0.36
LIHCchr11108347348Missense_MutationNAL2885H0.49
LIHCchr11108243977Missense_MutationNAL174R0.23
LIHCchr11108253957Missense_MutationnovelS681C0.39
LUADchr11108287598Splice_SitenovelX1332_splice0.22
LUADchr11108289685Missense_MutationnovelK1440N0.28
LUADchr11108312427Nonsense_MutationNAE1979*0.19
LUADchr11108335041Missense_MutationNAG2695S0.43
LUADchr11108345818Missense_Mutationrs587779872R2832C0.24
LUADchr11108252896Nonsense_MutationNAQ628*0.1
LUADchr11108335041Missense_MutationNAG2695C0.33
LUADchr11108247128Splice_SiteNAX355_splice0.17
LUADchr11108282806Nonsense_MutationnovelQ1225*0.12
LUADchr11108244081Frame_Shift_DelnovelL210Wfs*200.12
LUADchr11108365380Nonsense_MutationNAE3015*0.59
LUADchr11108272538Frame_Shift_DelnovelT1029Qfs*100.67
LUADchr11108267225Missense_MutationNAD841Y0.54
LUADchr11108244873Frame_Shift_DelnovelR250Sfs*30.24
LUADchr11108315832Frame_Shift_DelnovelL2006*0.3
LUADchr11108244867Nonsense_Mutationrs730881336R248*0.07
LUADchr11108365106Missense_MutationNAD2959H0.2
LUADchr11108335851Missense_MutationNAD2720H0.13
LUADchr11108332853Missense_Mutationrs767670019Y2627C0.54
LUADchr11108259065Frame_Shift_DelnovelC819Lfs*40.31
LUADchr11108284453Missense_MutationnovelE1325Q0.13
LUADchr11108299759Missense_MutationnovelS1684C0.44
LUADchr11108253862Missense_MutationnovelE649D0.39
LUADchr11108271092Missense_Mutationrs752099312G956E0.09
LUADchr11108304689Missense_MutationnovelF1837L0.19
LUADchr11108247071Missense_Mutationrs138398778R337C0.63
LUADchr11108310314Missense_Mutationrs786202089R1973G0.07
LUADchr11108347363Missense_MutationNAL2890R0.43
LUADchr11108289674Nonsense_MutationNAR1437*0.14
LUADchr11108251917Missense_MutationNAM563T0.38
LUADchr11108257538Nonsense_MutationNAE770*0.31
LUADchr11108333962Splice_SitenovelX2669_splice0.19
LUADchr11108268523Frame_Shift_InsnovelI923*0.38
LUADchr11108245008Missense_MutationNAA295P0.51
LUADchr11108316043Missense_Mutationrs753384717G2043V0.42
LUADchr11108289009Missense_MutationNAF1381C0.05
LUADchr11108329168Missense_MutationNAK2413Q0.1
LUADchr11108272721Splice_SiteNAX1052_splice0.26
LUADchr11108365106Missense_MutationnovelD2959N0.24
LUADchr11108365360Missense_Mutationrs587781894R3008H0.23
LUADchr11108343268Missense_Mutationrs775293524G2772E0.1
LUADchr11108257480Frame_Shift_InsnovelS751Ffs*140.15
LUADchr11108292642Nonsense_MutationNAS1487*0.3
LUADchr11108272825Missense_Mutationrs769857066R1086L0.68
LUADchr11108312489Frame_Shift_InsnovelS2000Nfs*40.1
LUADchr11108312417SilentNAL1975L0.1
LUADchr11108335080Missense_Mutationrs587782719D2708N0.53
LUADchr11108325452Missense_MutationnovelM2239V0.04
LUADchr11108253892Missense_MutationnovelK659N0.16
LUADchr11108282719Nonsense_MutationNAK1196*0.73
LUADchr11108268463Missense_MutationNAL898V0.13
LUADchr11108347325SilentNAL2877L0.06
LUADchr11108329194Missense_MutationnovelK2421N0.24
LUADchr11108250745Nonsense_MutationNAL427*0.24
LUADchr11108335102Missense_MutationNAL2715R0.48
LUADchr11108365493Missense_MutationNAW3052C0.39
LUADchr11108331565Splice_Regionnovel0.27
LUSCchr11108244814Missense_MutationnovelN230I0.33
LUSCchr11108227808SilentNAR35R0.27
LUSCchr11108229330Splice_Regionnovel0.53
LUSCchr11108297364Missense_MutationNAG1663C0.23
LUSCchr11108249083Missense_MutationNAD406N0.16
LUSCchr11108229185Nonsense_MutationnovelQ65*0.5
LUSCchr11108284434SilentnovelV1318V0.14
LUSCchr11108333908Missense_MutationnovelD2650E0.04
LUSCchr11108288984Missense_MutationnovelD1373N0.2
LUSCchr11108293343Missense_MutationnovelD1548H0.42
LUSCchr11108294992SilentnovelL1614L0.44
LUSCchr11108329112Missense_Mutationrs587779861S2394L0.45
LUSCchr11108299827Missense_MutationnovelE1707K0.13
LUSCchr11108289657Missense_Mutationrs201356803N1431S0.3
LUSCchr11108284447Missense_MutationNAK1323E0.13
LUSCchr11108329182SilentnovelL2417L0.42
LUSCchr11108302987SilentnovelG1818G0.36
LUSCchr11108252004Missense_Mutationrs776911505S592N0.15
LUSCchr11108353831Missense_Mutationrs756899044D2913H0.3
LUSCchr11108331876Splice_Regionnovel0.2
LUSCchr11108292754Frame_Shift_InsnovelI1525Nfs*60.21
LUSCchr11108353783Missense_MutationNAG2897S0.33
LUSCchr11108304790Missense_Mutationrs538452060T1871I0.42
LUSCchr11108365190Missense_MutationNAD2987Y0.09
LUSCchr11108347339Nonsense_MutationnovelS2882*0.22
LUSCchr11108326079Nonsense_MutationnovelQ2277*0.46
LUSCchr11108299733Missense_MutationNAL1675F0.12
LUSCchr11108252008SilentnovelT593T0.26
LUSCchr11108295073Intronnovel0.31
LUSCchr11108271394Missense_MutationnovelI1022T0.26
LUSCchr11108354817Missense_MutationnovelC2931W0.25
LUSCchr11108320030Missense_MutationnovelT2142A0.29
LUSCchr11108227775Splice_SiteNAX25_splice0.17
LUSCchr11108279550Frame_Shift_DelnovelQ1116Sfs*100.49
LUSCchr11108343225Missense_MutationnovelV2758L0.23
LUSCchr11108320019Missense_MutationnovelR2138T0.11
OVchr11108295313Intronnovel0.19
OVchr11108284412Missense_MutationnovelQ1311L0.05
OVchr11108244042Missense_MutationnovelK196E0.17
OVchr11108310180Missense_MutationNAF1928C0.25
OVchr11108282755Missense_MutationNAD1208H0.18
OVchr11108244853Missense_Mutationrs786202096L243S0.46
OVchr11108329171Nonsense_MutationNAQ2414*0.43
OVchr11108307971Splice_SiteNAX1917_splice0.25
OVchr11108257568Missense_MutationnovelM780V0.07
OVchr11108250816Missense_Mutationrs201719927R451C0.56
OVchr11108331447Missense_MutationNAD2507N0.32
OVchr11108326113Missense_MutationnovelV2288A0.12
OVchr11108227692Missense_Mutationrs587779858R23Q0.48
OVchr11108365092Missense_Mutationrs767507047Y2954C0.38
OVchr11108271340Missense_MutationnovelS1004I0.16
PAADchr11108365426Missense_MutationNAG3030V0.41
PAADchr11108287646Nonsense_MutationNAL1347*0.88
PAADchr11108329199Missense_Mutationrs121434221E2423G0.49
PAADchr11108253812Splice_SitenovelX633_splice0.6
PAADchr11108327727Missense_MutationnovelP2353H0.17
PAADchr11108330281Missense_Mutationrs730881383R2459C0.2
PAADchr11108343292Missense_MutationNAL2780R0.18
PAADchr11108354825Missense_MutationnovelT2934I0.15
PAADchr11108271057Splice_SitenovelX947_splice0.13
PAADchr11108307915Missense_Mutationrs370680798R1898Q0.04
PAADchr11108247071Missense_Mutationrs138398778R337C0.17
PCPGchr11108303008SilentnovelQ1825Q0.09
PRADchr11108347318Missense_Mutationrs587782451N2875S0.91
PRADchr11108247071Missense_Mutationrs138398778R337C0.61
PRADchr11108335041Missense_MutationNAG2695S0.13
PRADchr11108343309Missense_MutationNAG2786S0.25
PRADchr11108353851SilentnovelG2919G0.23
PRADchr11108272558In_Frame_DelnovelF1036_V1038del0.47
PRADchr11108330264Missense_MutationNAR2453P0.77
PRADchr11108310204Missense_MutationNAL1936S0.27
PRADchr11108289053Frame_Shift_DelnovelC1396*0.19
PRADchr11108293404Missense_MutationNAH1568L0.07
PRADchr11108321338Missense_MutationNAE2164K0.34
PRADchr11108310208Frame_Shift_DelnovelY1938Ifs*20.26
PRADchr11108304715Missense_MutationnovelI1846N0.42
PRADchr11108272800Missense_MutationNAL1078V0.09
PRADchr11108299723Missense_MutationNAG1672A0.11
PRADchr11108250916Frame_Shift_DelnovelW484*0.22
PRADchr11108354834Missense_MutationNAV2937G0.15
PRADchr11108329056SilentnovelS2375S0.39
PRADchr11108347319Missense_MutationNAN2875K0.22
PRADchr11108254008Frame_Shift_DelnovelS698*0.17
PRADchr11108335038Missense_MutationNAG2694R0.22
READchr11108247071Missense_Mutationrs138398778R337C0.53
READchr11108259012SilentnovelG801G0.25
READchr11108301658Nonsense_Mutationrs764389018R1730*0.29
READchr11108244797Missense_Mutationrs769731317K224N0.32
READchr11108345759Missense_MutationNAS2812Y0.46
READchr11108247071Missense_Mutationrs138398778R337C0.28
READchr11108365345Missense_Mutationrs144636562N3003S0.35
READchr11108347318Missense_Mutationrs587782451N2875S0.26
READchr11108247072Missense_Mutationrs202160435R337H0.48
READchr11108345869Nonsense_Mutationrs587778080R2849*0.24
READchr11108271262Missense_MutationnovelS978Y0.19
READchr11108331918Missense_MutationNAL2557V0.21
READchr11108268595Missense_MutationnovelL942I0.39
READchr11108281041Missense_MutationnovelR1150I0.38
READchr11108282782Missense_MutationnovelL1217M0.38
READchr11108287545Intronnovel0.3
READchr11108289089Missense_MutationNAL1408I0.31
READchr11108289761Nonsense_Mutationrs730881369R1466*0.46
READchr11108292646SilentnovelL1488L0.38
READchr11108295343Intronnovel0.6
READchr11108301658Nonsense_Mutationrs764389018R1730*0.39
READchr11108320045Missense_MutationnovelL2147I0.3
READchr11108325488Missense_MutationnovelL2251I0.4
READchr11108244873Nonsense_Mutationrs772821016R250*0.17
READchr11108289089Missense_MutationNAL1408I0.21
READchr11108299752Missense_MutationNAD1682Y0.3
READchr11108316030Missense_MutationNAE2039K0.45
READchr11108307985Splice_SitenovelX1921_splice0.35
READchr11108326152Frame_Shift_Insrs773570504E2304Gfs*690.43
SARCchr11108249053Missense_MutationnovelI396L0.12
SARCchr11108289040SilentnovelA1391A0.22
SARCchr11108282718SilentnovelE1195E0.4
SARCchr11108247071Missense_Mutationrs138398778R337C0.8
SARCchr11108287482Intronnovel0.39
SARCchr11108287545Intronnovel0.37
SARCchr11108293467Missense_MutationnovelS1589L0.79
SARCchr11108329178Missense_MutationNAL2416P0.58
SARCchr11108249065Missense_MutationnovelL400I0.29
SARCchr11108289070Frame_Shift_DelnovelS1403Afs*30.2
SARCchr11108289075Missense_MutationnovelS1403I0.19
SKCMchr11108316081Missense_MutationNAP2056S0.29
SKCMchr11108253907SilentNAT664T0.27
SKCMchr11108343347SilentnovelA2798A0.44
SKCMchr11108316107SilentnovelI2064I0.21
SKCMchr11108247071Missense_Mutationrs138398778R337C0.54
SKCMchr11108247071Missense_Mutationrs138398778R337C0.23
SKCMchr11108267287SilentNAY861Y0.24
SKCMchr11108287592Splice_Regionnovel0.1
SKCMchr11108331548SilentNAV2540V0.23
SKCMchr11108331903Missense_MutationnovelH2552Y0.06
SKCMchr11108272773Missense_Mutationrs751714261P1069S0.61
SKCMchr11108235828Frame_Shift_Insnovel0.45
SKCMchr11108289010SilentNAF1381F0.28
SKCMchr11108292658Silentrs780236656S1492S0.19
SKCMchr11108250753Missense_MutationNAC430S0.43
SKCMchr11108250835Missense_Mutationrs780097986R457Q0.39
SKCMchr11108331505Missense_MutationNAR2526K0.29
SKCMchr11108268522SilentNAS917S0.69
SKCMchr11108321351Missense_Mutationrs200431631S2168L0.43
SKCMchr11108289692Missense_MutationnovelH1443Y0.14
SKCMchr11108343228Missense_Mutationrs764906663P2759S0.37
SKCMchr11108293366Silentrs374431061L1555L0.42
SKCMchr11108259019SilentnovelL804L0.22
SKCMchr11108304821SilentNAS1881S0.33
SKCMchr11108365484SilentNAF3049F0.39
SKCMchr11108251034SilentNAF523F0.36
SKCMchr11108310237Missense_MutationnovelS1947Y0.82
SKCMchr11108295005SilentnovelR1619R0.2
SKCMchr11108326226Splice_SiteNAX2325_splice0.53
SKCMchr11108317469Missense_MutationnovelH2099Y0.57
SKCMchr11108294935SilentnovelN1595N0.3
SKCMchr11108284415Missense_MutationNAR1312K0.56
SKCMchr11108353791SilentNAI2899I0.32
SKCMchr11108354834Missense_MutationNAV2937G0.33
SKCMchr11108327758Missense_MutationNAK2363N0.77
SKCMchr11108268594SilentNAS941S0.56
SKCMchr11108244993Missense_MutationNAH290Y0.23
SKCMchr11108250850Missense_MutationNAV462A0.31
SKCMchr11108365179Missense_MutationNAT2983S0.06
SKCMchr11108335029Missense_Mutationrs531980488R2691C0.25
SKCMchr11108227806Nonsense_Mutationrs55861249R35*0.67
SKCMchr11108332840Missense_MutationNAL2623F0.97
SKCMchr11108284284SilentNAV1268V0.19
STADchr11108331930Missense_MutationNAL2561M0.1
STADchr11108244096Missense_Mutationrs747053710S214P0.25
STADchr11108292680Nonsense_MutationNAQ1500*0.39
STADchr11108330378Missense_MutationNAW2491L0.26
STADchr11108259057SilentNAA816A0.16
STADchr11108247085Frame_Shift_InsnovelE343Rfs*50.29
STADchr11108289748Missense_MutationNAW1461C0.19
STADchr11108301698Frame_Shift_InsnovelT1745Dfs*40.48
STADchr11108272851Missense_MutationNAR1095G0.23
STADchr11108330350Missense_MutationnovelM2482V0.24
STADchr11108289762Missense_Mutationrs749770110R1466Q0.23
STADchr11108247047Frame_Shift_DelnovelR329Kfs*80.12
STADchr11108299727SilentNAS1673S0.24
STADchr11108227692Missense_Mutationrs587779858R23Q0.37
STADchr11108267315Missense_MutationNAE871K0.39
STADchr11108332765Nonsense_Mutationrs138941496R2598*0.23
STADchr11108343240Nonsense_MutationNAR2763*0.23
STADchr11108281160Missense_MutationnovelV1190L0.35
STADchr11108317444Missense_MutationnovelD2090E0.16
STADchr11108284434SilentNAV1318V0.29
STADchr11108289070Frame_Shift_DelnovelS1403Afs*30.27
STADchr11108293436Frame_Shift_InsNAI1581Nfs*50.12
STADchr11108329124Missense_MutationNAY2398C0.12
STADchr11108325469SilentnovelR2244R0.07
STADchr11108307929Frame_Shift_DelnovelK1904Nfs*130.38
STADchr11108284386SilentNAG1302G0.1
STADchr11108329159Missense_Mutationrs193302874F2410L0.64
STADchr11108247071Missense_Mutationrs138398778R337C0.18
STADchr11108347362Missense_Mutationrs587779874L2890V0.24
STADchr11108272574Missense_MutationnovelM1040I0.33
STADchr11108335080Missense_Mutationrs587782719D2708N0.31
STADchr11108250979Missense_MutationnovelF505C0.15
STADchr11108345750Frame_Shift_Delrs759472682K2811Sfs*460.14
STADchr11108345818Missense_Mutationrs587779872R2832C0.21
STADchr11108244090Frame_Shift_DelNAS214Pfs*160.22
STADchr11108244856Missense_MutationNAA244V0.16
STADchr11108345750Frame_Shift_DelnovelK2811Vfs*30.76
STADchr11108289059Frame_Shift_DelnovelT1399Pfs*30.27
STADchr11108247071Missense_Mutationrs138398778R337C0.2
STADchr11108345750Frame_Shift_Delrs759472682K2811Sfs*460.2
STADchr11108227689Missense_MutationnovelE22G0.1
STADchr11108304823Missense_Mutationrs587782236R1882Q0.34
STADchr11108321300Splice_SiteNAX2151_splice0.11
STADchr11108345750Frame_Shift_Delrs759472682K2811Sfs*460.4
STADchr11108365142Nonsense_MutationNAQ2971*0.16
STADchr11108227636Silentrs786201365V4V0.3
STADchr11108297354Missense_MutationNAI1659M0.16
STADchr11108335015Missense_MutationNAF2686C0.6
STADchr11108257498SilentNAA756A0.08
STADchr11108289089Missense_MutationNAL1408F0.14
STADchr11108331949Missense_MutationNAN2567S0.16
STADchr11108365359Missense_Mutationrs587782292R3008C0.17
STADchr11108343322Missense_MutationNAR2790K0.22
STADchr11108304812Silentrs767070325S1878S0.12
STADchr11108289724Frame_Shift_DelnovelS1455Vfs*30.43
STADchr11108247066Missense_MutationNAG335E0.09
STADchr11108250960Nonsense_MutationnovelQ499*0.24
TGCTchr11108268415Missense_Mutationrs746424711I882V0.3
THCAchr11108365327Missense_MutationnovelD2997G0.4
THCAchr11108307945Frame_Shift_DelnovelT1908Kfs*90.34
THCAchr11108227670Frame_Shift_DelnovelE16Nfs*180.26
THCAchr11108320000Missense_MutationNAL2132V0.35
THCAchr11108325420Missense_MutationNAT2228I0.4
THCAchr11108345859Missense_MutationNAW2845C0.54
UCECchr11108316100Missense_MutationNAA2062V0.36
UCECchr11108345882Missense_Mutationrs141534716T2853M0.46
UCECchr11108244873Nonsense_Mutationrs772821016R250*0.27
UCECchr11108297217Intronnovel0.26
UCECchr11108345759Missense_MutationNAS2812Y0.35
UCECchr11108229225Frame_Shift_DelnovelA78Efs*380.3
UCECchr11108229203Nonsense_MutationnovelE71*0.1
UCECchr11108244868Missense_Mutationrs769166447R248Q0.29
UCECchr11108248967Missense_MutationNAS367F0.37
UCECchr11108271390Missense_MutationnovelV1021L0.08
UCECchr11108282865SilentNAI1244I0.26
UCECchr11108284347Missense_MutationNAK1289N0.28
UCECchr11108302968Missense_Mutationrs199885813A1812V0.33
UCECchr11108335029Missense_Mutationrs531980488R2691C0.31
UCECchr11108343291Missense_MutationNAL2780I0.17
UCECchr11108307928Frame_Shift_InsNAS1905Ifs*250.19
UCECchr11108272800Missense_MutationnovelL1078I0.26
UCECchr11108302889Missense_MutationnovelF1786L0.11
UCECchr11108310310Missense_MutationnovelE1971D0.44
UCECchr11108315849SilentnovelS2011S0.34
UCECchr11108250909Missense_Mutationrs202173660K482Q0.43
UCECchr11108289089Missense_MutationNAL1408I0.16
UCECchr11108289680Missense_MutationNAL1439I0.38
UCECchr11108335029Missense_Mutationrs531980488R2691C0.21
UCECchr11108345781SilentNAV2819V0.35
UCECchr11108325472SilentnovelE2245E0.39
UCECchr11108293437Frame_Shift_DelNAI1581Sfs*200.42
UCECchr11108365508Nonstop_Mutationnovel*3057Cext*290.31
UCECchr11108245021Frame_Shift_DelnovelG301Vfs*190.32
UCECchr11108330237Missense_MutationnovelE2444A0.53
UCECchr11108335089Nonsense_MutationnovelE2711*0.21
UCECchr11108327704Missense_MutationNAL2345F0.17
UCECchr11108244954Nonsense_MutationNAE277*0.41
UCECchr111083676683'UTRnovel0.27
UCECchr11108287599Splice_SiteNAX1332_splice0.4
UCECchr11108244868Missense_Mutationrs769166447R248Q0.47
UCECchr11108295002Nonsense_Mutationrs762083530R1618*0.2
UCECchr11108326098Nonsense_MutationnovelS2283*0.47
UCECchr11108335848Missense_Mutationrs138526014R2719C0.41
UCECchr11108297350Missense_MutationnovelA1658V0.27
UCECchr11108365208Nonsense_Mutationrs770641163R2993*0.11
UCECchr11108271271Missense_Mutationrs755896387R981H0.38
UCECchr11108310185Missense_MutationnovelD1930Y0.14
UCECchr11108353831Missense_MutationnovelD2913Y0.23
UCECchr11108335012Nonsense_MutationNAS2685*0.43
UCECchr11108289661SilentnovelV1432V0.09
UCECchr11108335941SilentNAL2750L0.1
UCECchr11108345781SilentNAV2819V0.21
UCECchr11108251029Nonsense_MutationNAE522*0.19
UCECchr11108272591Missense_MutationNAL1046R0.19
UCECchr11108310220SilentNAV1941V0.13
UCECchr11108304674Splice_SiteNAX1833_splice0.29
UCECchr11108267307Missense_Mutationrs750322758D868G0.42
UCECchr11108335857Missense_MutationNAL2722M0.41
UCECchr11108227775Splice_SitenovelX25_splice0.08
UCECchr11108244900Missense_MutationNAL259I0.2
UCECchr11108297302Missense_MutationnovelG1642V0.38
UCECchr11108251058SilentNAA531A0.35
UCECchr11108297309Missense_MutationNAM1644I0.29
UCECchr11108329224Missense_MutationnovelK2431N0.15
UCECchr111083656183'UTRnovel0.22
UCECchr11108330287Missense_Mutationrs201314561R2461C0.12
UCECchr11108343291Missense_MutationNAL2780I0.36
UCECchr11108249035Nonsense_MutationNAE390*0.43
UCECchr11108299841SilentNAT1711T0.36
UCECchr11108331930Missense_MutationNAL2561M0.41
UCECchr11108244868Missense_Mutationrs769166447R248Q0.59
UCECchr11108289620Missense_MutationNAL1419I0.29
UCECchr11108365344Missense_Mutationrs1137889N3003D0.35
UCECchr11108259016Missense_MutationnovelF803V0.24
UCECchr11108287552Intronnovel0.55
UCECchr11108325512Missense_MutationnovelS2259T0.44
UCECchr111083676393'UTRnovel0.4
UCECchr11108256225Nonsense_MutationnovelS712*0.32
UCECchr11108268569Missense_MutationnovelS933Y0.11
UCECchr11108289620Missense_MutationNAL1419I0.26
UCECchr11108292669Missense_MutationnovelD1496G0.4
UCECchr11108317411SilentnovelV2079V0.4
UCECchr11108329130Missense_MutationnovelR2400I0.44
UCECchr11108365214Missense_Mutationrs142322668L2995I0.34
UCECchr11108329075Nonsense_MutationnovelG2382*0.33
UCECchr11108335903Missense_MutationnovelT2737I0.23
UCECchr11108252031Missense_MutationNAS601I0.44
UCECchr11108297206Intronnovel0.5
UCECchr11108268412Missense_MutationnovelA881T0.11
UCECchr11108316015Nonsense_Mutationrs532480170R2034*0.3
UCECchr11108327744Missense_MutationnovelT2359S0.29
UCECchr111083678233'UTRnovel0.41
UCECchr11108244935SilentNAR270R0.32
UCECchr11108295313Intronnovel0.67
UCECchr11108227806Nonsense_Mutationrs55861249R35*0.19
UCECchr11108247072Missense_Mutationrs202160435R337H0.46
UCECchr11108307907Frame_Shift_InsnovelR1898Pfs*60.26
UCECchr11108315821Splice_SiteNAX2003_splice0.51
UCECchr11108272824Missense_Mutationrs201780199R1086C0.35
UCECchr11108329051Nonsense_MutationnovelE2374*0.36
UCECchr11108345818Missense_Mutationrs587779872R2832C0.36
UCECchr11108365102SilentnovelL2957L0.48
UCECchr11108247071Missense_Mutationrs138398778R337C0.27
UCECchr11108331450Missense_Mutationrs754395517G2508R0.29
UCECchr11108335846Missense_MutationnovelG2718V0.38
UCECchr11108345869Nonsense_Mutationrs587778080R2849*0.34
UCECchr11108327760Splice_SitenovelX2363_splice0.61
UCECchr11108245021Frame_Shift_DelnovelG301Vfs*190.22
UCECchr11108327758Missense_MutationNAK2363N0.52
UCECchr11108250784Missense_Mutationrs773895161S440F0.44
UCECchr11108287482Intronnovel0.5
UCECchr11108294980SilentnovelR1610R0.31
UCECchr11108320026SilentnovelF2140F0.4
UCECchr11108329093Missense_MutationNAL2388F0.37
UCECchr11108332898Missense_MutationnovelR2642I0.13
UCECchr11108345848Missense_MutationnovelP2842S0.52
UCECchr111083676413'UTRnovel0.29
UCECchr11108244873Nonsense_Mutationrs772821016R250*0.36
UCECchr11108289015Missense_Mutationrs141087784S1383L0.56
UCECchr11108310277SilentnovelI1960I0.17
UCECchr11108245026Missense_MutationnovelG301S0.24
UCECchr11108365476Nonsense_Mutationrs121434219R3047*0.23
UCECchr11108247060Missense_MutationnovelS333Y0.34
UCECchr11108289728Missense_MutationnovelS1455R0.19
UCECchr11108333929Missense_MutationnovelK2657N0.52
UCECchr11108332849Missense_MutationnovelA2626T0.16
UCECchr11108227692Missense_Mutationrs587779858R23Q0.38
UCECchr11108252848Missense_Mutationrs747242300L612I0.22
UCECchr11108281127Missense_MutationnovelS1179P0.14
UCECchr11108295129Intronnovel0.14
UCECchr11108330341Missense_MutationnovelE2479K0.38
UCECchr11108345881Missense_MutationnovelT2853A0.33
UCECchr11108343240Nonsense_MutationNAR2763*0.21
UCECchr11108295193Intronnovel0.22
UCECchr11108295196Intronnovel0.22
UCECchr11108287534Intronnovel0.28
UCECchr11108247072Missense_Mutationrs202160435R337H0.42
UCECchr11108297279Splice_Regionnovel0.22
UCECchr11108310231Frame_Shift_DelNAQ1946Vfs*180.36
UCECchr11108252019Missense_MutationnovelP597Q0.32
UCECchr11108315829Missense_MutationnovelL2005I0.23
UCECchr11108347348Missense_MutationnovelL2885R0.37
UCECchr11108281128Missense_MutationnovelS1179Y0.32
UCECchr11108297114Intronnovel0.32
UCECchr11108329154Missense_Mutationrs730881315S2408L0.33
UCECchr11108365363Missense_MutationnovelV3009A0.33
UCECchr11108353802Missense_MutationnovelP2903L0.24
UCECchr11108250892Frame_Shift_DelnovelK477Vfs*90.32
UCECchr11108244066Missense_Mutationrs147915571G204R0.39
UCECchr11108245012Missense_MutationnovelK296R0.22
UCECchr11108282746Missense_Mutationrs760928285R1205C0.47
UCECchr11108297349Missense_Mutationrs372679141A1658T0.38
UCECchr11108365360Missense_Mutationrs587781894R3008H0.54
UCECchr11108244090Frame_Shift_DelNAS214Pfs*160.53
UCECchr11108287676Missense_MutationnovelS1357Y0.55
UCECchr111083677643'UTRnovel0.5
UCECchr11108244873Nonsense_Mutationrs772821016R250*0.28
UCECchr11108251953Nonsense_MutationnovelS575*0.06
UCECchr11108332765Nonsense_Mutationrs138941496R2598*0.31
UCECchr11108244115Missense_Mutationrs145355104A220V0.11
UCECchr11108282735Missense_MutationnovelF1201C0.2
UCECchr11108297195Intronnovel0.14
UCECchr11108292697Silentrs540798997A1505A0.5
UCECchr11108316023Silentrs3092826Y2036Y0.34
UCECchr11108272824Missense_Mutationrs201780199R1086C0.42
UCECchr11108281096SilentNAC1168C0.26
UCECchr111083676793'UTRnovel0.3
UCECchr11108257550Missense_MutationNAG774C0.15
UCECchr11108247012Missense_MutationNAD317G0.36
UCECchr11108345869Nonsense_Mutationrs587778080R2849*0.26
UCECchr11108365208Nonsense_Mutationrs770641163R2993*0.12
UCECchr11108271130Missense_MutationnovelL969F0.67
UCECchr11108249019SilentnovelC384C0.31
UCECchr11108279496Missense_MutationnovelF1097S0.44
UCECchr11108284473Missense_MutationNAQ1331H0.35
UCECchr11108252882Missense_MutationnovelA623V0.1
UCECchr11108248945Missense_MutationNAD360Y0.22
UCECchr11108227882Frame_Shift_DelNAF61Lfs*150.3
UCECchr11108293437Frame_Shift_DelNAI1581Sfs*200.39
UCECchr11108250926Missense_MutationNAI487M0.45
UCECchr11108320025Missense_MutationNAF2140C0.46
UCECchr11108347290Missense_MutationNAL2866I0.38
UCECchr11108320000Missense_MutationNAL2132V0.13
UCECchr11108335958Silentrs758654836Y2755Y0.64
UCECchr11108294995Missense_MutationNAK1615N0.09
UCECchr11108227836Missense_Mutationrs3218684R45W0.31
UCECchr11108245016SilentnovelT297T0.18
UCECchr11108251937Missense_MutationNAF570L0.23
UCECchr11108271261Missense_MutationNAS978A0.22
UCECchr11108282874Missense_MutationNAF1247L0.3
UCECchr11108299755Missense_MutationNAF1683V0.25
UCECchr111083656873'UTRnovel0.57
UCECchr11108345749Frame_Shift_InsNAS2812Vfs*30.33
UCECchr11108252024Missense_MutationnovelL599I0.27
UCECchr11108329154Missense_Mutationrs730881315S2408L0.31
UCECchr11108332765Nonsense_Mutationrs138941496R2598*0.4
UCECchr111083676683'UTRnovel0.44
UCECchr11108302880Nonsense_MutationNAE1783*0.32
UCECchr11108320023Missense_MutationNAE2139D0.11
UCECchr11108335007Missense_MutationNAI2683M0.34
UCECchr11108279578SilentnovelY1124Y0.23
UCECchr11108299865Silentrs786203254N1719N0.21
UCECchr11108310238SilentnovelS1947S0.19
UCECchr11108327730Missense_MutationnovelA2354V0.21
UCECchr11108331988Missense_MutationnovelR2580I0.19
UCECchr11108332765Nonsense_Mutationrs138941496R2598*0.34
UCECchr11108343308Missense_MutationnovelD2785E0.42
UCECchr11108354857Missense_MutationNAL2945M0.35
UCECchr11108267292Missense_MutationnovelD863G0.38
UCECchr11108302884Missense_MutationnovelN1784S0.55
UCECchr11108327712Missense_MutationnovelT2348M0.69
UCECchr11108345750Frame_Shift_Delrs759472682K2811Sfs*460.37
UCECchr11108253972Missense_MutationnovelL686P0.25
UCECchr11108256246Nonsense_MutationNAS719*0.37
UCECchr11108301756SilentNAA1762A0.28
UCECchr11108353814Missense_MutationnovelP2907H0.09
UCECchr11108329222Nonsense_MutationnovelK2431*0.39
UCECchr111083676393'UTRnovel0.48
UCECchr11108227691Nonsense_Mutationrs746235533R23*0.32
UCECchr11108343309Missense_MutationNAG2786S0.34
UCSchr11108295000Missense_MutationnovelL1617R0.42
UCSchr11108295002Nonsense_Mutationrs762083530R1618*0.34
UCSchr11108365085Missense_MutationnovelL2952I0.42

Copy Number Variations (CNVs)
CancerTypeFreq Q-value
BLCADEL0.28920.00015732
CESCDEL0.48141.0762e-32
CHOLDEL0.30560.048655
ESCAAMP0.1250.018342
KIRPDEL0.10422.839e-05
LIHCDEL0.19730.00030497
LUADDEL0.17444.2393e-06
MESODEL0.16090.0023183
PRADDEL0.08740.00026046
READDEL0.21820.054114
SARCDEL0.41251.8105e-09
STADDEL0.15198.3734e-05
TGCTDEL0.74670.21504
UCSDEL0.41070.086462

Survival Analysis
CancerP-value Q-value
SARC0.014

Kaplan-Meier Survival Analysis

MESO0.024

Kaplan-Meier Survival Analysis

HNSC0.047

Kaplan-Meier Survival Analysis

SKCM0.011

Kaplan-Meier Survival Analysis

ESCA0.0025

Kaplan-Meier Survival Analysis

READ0.026

Kaplan-Meier Survival Analysis

KICH0.027

Kaplan-Meier Survival Analysis

UVM0.021

Kaplan-Meier Survival Analysis

Drugs

Select Dataset :


Input Drug :


Input Cell Line :


Eesembl ID



Cell lines and drugs in GSE70138 or GSE92742


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