Hugo_Symbol Entrez_Gene_Id Center NCBI_Build Chromosome Start_position End_position Strand Variant_Classification Variant_Type Reference_Allele Tumor_Seq_Allele1 Tumor_Seq_Allele2 dbSNP_RS dbSNP_Val_Status Tumor_Sample_Barcode Matched_Norm_Sample_Barcode Match_Norm_Seq_Allele1 Match_Norm_Seq_Allele2 Tumor_Validation_Allele1 Tumor_Validation_Allele2 Match_Norm_Validation_Allele1 Match_Norm_Validation_Allele2 Verification_Status Validation_Status Mutation_Status Sequencing_Phase Sequence_Source Validation_Method Score BAM_file Sequencer Tumor_Sample_UUID Matched_Norm_Sample_UUID Genome_Change Annotation_Transcript Transcript_Strand Transcript_Exon Transcript_Position cDNA_Change Codon_Change Protein_Change Other_Transcripts Refseq_mRNA_Id Refseq_prot_Id SwissProt_acc_Id SwissProt_entry_Id Description UniProt_AApos UniProt_Region UniProt_Site UniProt_Natural_Variations UniProt_Experimental_Info GO_Biological_Process GO_Cellular_Component GO_Molecular_Function COSMIC_overlapping_mutations COSMIC_fusion_genes COSMIC_tissue_types_affected COSMIC_total_alterations_in_gene Tumorscape_Amplification_Peaks Tumorscape_Deletion_Peaks TCGAscape_Amplification_Peaks TCGAscape_Deletion_Peaks DrugBank ref_context gc_content CCLE_ONCOMAP_overlapping_mutations CCLE_ONCOMAP_total_mutations_in_gene CGC_Mutation_Type CGC_Translocation_Partner CGC_Tumor_Types_Somatic CGC_Tumor_Types_Germline CGC_Other_Diseases DNARepairGenes_Role FamilialCancerDatabase_Syndromes MUTSIG_Published_Results OREGANNO_ID OREGANNO_Values t_alt_count t_ref_count validation_alt_allele validation_method validation_status validation_tumor_sample pox qox pox_cutoff isArtifactMode oxoGCut TUBG1 7283 broad.mit.edu 37 17 40762598 40762599 + Missense_Mutation DNP GA GA CG TCGA-H2-A3RH-01A-11D-A21Z-08 TCGA-H2-A3RH-10A-01D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx e76ddf7f-bf62-4428-8f38-301ea24157f6 10dd44e4-375e-47c0-b545-60c6dc0d1920 g.chr17:40762598_40762599GA>CG uc002ian.3 + 2 718_719 c.320_321GA>CG c.(319-321)gga>gCG p.G107A FAM134C_uc002ial.2_5'Flank|FAM134C_uc010wgq.1_5'Flank|FAM134C_uc002iam.1_5'Flank|FAM134C_uc010cyk.1_5'UTR NM_001070 NP_001061 P23258 TBG1_HUMAN Homo sapiens tubulin, gamma 1 (TUBG1), mRNA. 107 G2/M transition of mitotic cell cycle|meiotic spindle organization|protein polymerization condensed nuclear chromosome|cytosol|gamma-tubulin complex|polar microtubule GTP binding|GTPase activity|protein binding|structural constituent of cytoskeleton endometrium(2)|kidney(2)|large_intestine(2)|lung(4)|ovary(1)|prostate(1) 12 Breast(137;0.00116) BRCA - Breast invasive adenocarcinoma(366;0.129) TGGGCCAGCGGATTCTCCCAGG 0.569000 8 78 0 0 1 0 0 PHF3 23469 broad.mit.edu 37 6 64394725 64394725 + Missense_Mutation SNP G G A TCGA-H2-A3RH-01A-11D-A21Z-08 TCGA-H2-A3RH-10A-01D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx e76ddf7f-bf62-4428-8f38-301ea24157f6 10dd44e4-375e-47c0-b545-60c6dc0d1920 g.chr6:64394725G>A uc003pep.1 + 2 1127 c.1102G>A c.(1102-1104)Gat>Aat p.D368N PHF3_uc010kaf.1_Missense_Mutation_p.D368N|PHF3_uc003pem.2_Missense_Mutation_p.D321N|PHF3_uc010kag.1_Missense_Mutation_p.D280N|PHF3_uc010kah.1_Missense_Mutation_p.D182N|PHF3_uc003pen.2_Missense_Mutation_p.D280N|PHF3_uc011dxs.1_Intron|PHF3_uc003peo.3_Missense_Mutation_p.D368N NM_015153 NP_055968 Q92576 PHF3_HUMAN Homo sapiens PHD finger protein 3 (PHF3), mRNA. 368 multicellular organismal development|transcription, DNA-dependent nucleus zinc ion binding breast(7)|cervix(2)|endometrium(8)|kidney(7)|large_intestine(18)|lung(21)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(6) 75 all_cancers(3;0.0241)|all_epithelial(2;0.00306)|Lung NSC(77;0.121) LUSC - Lung squamous cell carcinoma(74;0.0644)|Lung(124;0.148) TAGTTGTGTAGATGAAGTGAC 0.373000 32 67 0 0 1 0 0 OR8K5 219453 broad.mit.edu 37 11 55926983 55926983 + Missense_Mutation SNP C C A TCGA-H2-A3RH-01A-11D-A21Z-08 TCGA-H2-A3RH-10A-01D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx e76ddf7f-bf62-4428-8f38-301ea24157f6 10dd44e4-375e-47c0-b545-60c6dc0d1920 g.chr11:55926983C>A uc010rja.2 - 0 811 c.811G>T c.(811-813)Gat>Tat p.D271Y NM_001004058 NP_001004058 Q8NH50 OR8K5_HUMAN Homo sapiens olfactory receptor, family 8, subfamily K, member 5 (OR8K5), mRNA. 271 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity p.T270N(1) large_intestine(3)|lung(24)|ovary(2)|pancreas(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1) 34 Esophageal squamous(21;0.00693) Lung NSC(402;0.197)|all_epithelial(135;0.236) GCCATTTTATCAGTATCAAAG 0.398000 3 72 0 0 1 0 0 GRAMD1A 57655 broad.mit.edu 37 19 35500211 35500211 + Missense_Mutation SNP G G A TCGA-H2-A3RH-01A-11D-A21Z-08 TCGA-H2-A3RH-10A-01D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx e76ddf7f-bf62-4428-8f38-301ea24157f6 10dd44e4-375e-47c0-b545-60c6dc0d1920 g.chr19:35500211G>A uc010xsf.1 + 1 212 c.212G>A c.(211-213)cGg>cAg p.R71Q GRAMD1A_uc002nxi.1_Missense_Mutation_p.R153Q|GRAMD1A_uc010xse.1_Missense_Mutation_p.R66Q|GRAMD1A_uc002nxk.2_Missense_Mutation_p.R66Q|GRAMD1A_uc002nxl.2_5'UTR NM_020895 NP_065946 Q96CP6 GRM1A_HUMAN Homo sapiens GRAM domain containing 1A (GRAMD1A), transcript variant 1, mRNA. 66 integral to membrane NS(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(1)|lung(10)|prostate(1)|upper_aerodigestive_tract(1) 19 all_lung(56;2.66e-08)|Lung NSC(56;4.13e-08)|Esophageal squamous(110;0.162) LUSC - Lung squamous cell carcinoma(66;0.0849) CTAGGCAGCCGGAACTTCATC 0.637000 3 69 0 0 1 0 0 IQCE 23288 broad.mit.edu 37 7 2613074 2613074 + Silent SNP C C A TCGA-H2-A3RH-01A-11D-A21Z-08 TCGA-H2-A3RH-10A-01D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx e76ddf7f-bf62-4428-8f38-301ea24157f6 10dd44e4-375e-47c0-b545-60c6dc0d1920 g.chr7:2613074C>A uc003sml.1 + 5 601 c.417C>A c.(415-417)gtC>gtA p.V139V IQCE_uc010ksm.1_Silent_p.V139V|IQCE_uc011jvy.1_Silent_p.V123V|IQCE_uc011jvz.1_Silent_p.V74V|IQCE_uc003smo.4_Silent_p.V139V|IQCE_uc003smk.4_Silent_p.V123V|IQCE_uc003smn.4_Silent_p.V74V NM_152558 NP_689771 Q6IPM2 IQCE_HUMAN Homo sapiens IQ motif containing E (IQCE), transcript variant 1, mRNA. 139 breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(12)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 30 Ovarian(82;0.0112) OV - Ovarian serous cystadenocarcinoma(56;1.23e-13) GGACTCCTGTCTACAGAGAAA 0.348000 3 53 0 0 1 0 0 FLI1 2313 broad.mit.edu 37 11 128680730 128680730 + Silent SNP T T C TCGA-H2-A3RH-01A-11D-A21Z-08 TCGA-H2-A3RH-10A-01D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx e76ddf7f-bf62-4428-8f38-301ea24157f6 10dd44e4-375e-47c0-b545-60c6dc0d1920 g.chr11:128680730T>C uc010sbu.2 + 8 1549 c.1206T>C c.(1204-1206)ccT>ccC p.P402P FLI1_uc010sbt.2_Silent_p.P209P|FLI1_uc010sbv.2_Silent_p.P369P|FLI1_uc009zci.3_Silent_p.P336P NM_002017 NP_001161153 Q01543 FLI1_HUMAN Homo sapiens Friend leukemia virus integration 1 (FLI1), transcript variant 1, mRNA. 402 hemostasis|organ morphogenesis nucleus protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity EWSR1/FLI1(2569) NS(1)|central_nervous_system(2)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(4)|lung(14)|ovary(3)|prostate(2) 31 all_hematologic(175;0.0641) Lung NSC(97;0.00588)|all_lung(97;0.00764)|Breast(109;0.0115)|Medulloblastoma(222;0.0523)|all_neural(223;0.0862)|all_hematologic(192;0.182) OV - Ovarian serous cystadenocarcinoma(99;0.01)|LUSC - Lung squamous cell carcinoma(976;0.0324)|Lung(977;0.0327) ACTTTGTCCCTCCCCATCCAT 0.567000 T EWSR1 Ewing sarcoma 3 64 0 0 1 0 0 MRPL10 124995 broad.mit.edu 37 17 45904011 45904011 + Missense_Mutation SNP G G A TCGA-H2-A3RH-01A-11D-A21Z-08 TCGA-H2-A3RH-10A-01D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx e76ddf7f-bf62-4428-8f38-301ea24157f6 10dd44e4-375e-47c0-b545-60c6dc0d1920 g.chr17:45904011G>A uc002ily.3 - 4 652 c.554C>T c.(553-555)cCg>cTg p.P185L MRPL10_uc002ilz.3_Missense_Mutation_p.P175L|MRPL10_uc010wky.2_Missense_Mutation_p.P136L NM_148887 NP_683685 Q7Z7H8 RM10_HUMAN Homo sapiens mitochondrial ribosomal protein L10 (MRPL10), nuclear gene encoding mitochondrial protein, transcript variant 2, mRNA. 175 ribosome biogenesis|translation mitochondrial large ribosomal subunit structural constituent of ribosome endometrium(3)|large_intestine(1)|lung(3)|ovary(1) 8 ACCTAGCAGCGGCAGGAATGG 0.557000 7 119 0 0 1 0 0 ANK1 286 broad.mit.edu 37 8 41530362 41530362 + Missense_Mutation SNP G G A rs146416859 byFrequency TCGA-H2-A3RH-01A-11D-A21Z-08 TCGA-H2-A3RH-10A-01D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx e76ddf7f-bf62-4428-8f38-301ea24157f6 10dd44e4-375e-47c0-b545-60c6dc0d1920 g.chr8:41530362G>A uc003xom.3 - 38 5011 c.4729C>T c.(4729-4731)Cgt>Tgt p.R1577C NKX6-3_uc010lxa.1_Intron|ANK1_uc003xoh.3_Intron|ANK1_uc003xoi.3_Missense_Mutation_p.R1536C|ANK1_uc003xoj.3_Missense_Mutation_p.R1536C|ANK1_uc003xok.3_Missense_Mutation_p.R1536C|ANK1_uc003xol.3_Intron NM_001142446 NP_001135918 P16157 ANK1_HUMAN Homo sapiens ankyrin 1, erythrocytic (ANK1), transcript variant 9, mRNA. 1536 55 kDa regulatory domain. axon guidance|cytoskeleton organization|exocytosis|maintenance of epithelial cell apical/basal polarity|signal transduction basolateral plasma membrane|cytosol|sarcomere|sarcoplasmic reticulum|spectrin-associated cytoskeleton cytoskeletal adaptor activity|enzyme binding|protein binding|spectrin binding|structural constituent of cytoskeleton breast(5)|central_nervous_system(4)|endometrium(9)|kidney(1)|large_intestine(26)|lung(62)|ovary(3)|prostate(5)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(3) 122 Ovarian(28;0.00541)|Colorectal(14;0.0398)|Lung SC(25;0.211) all_lung(54;0.000626)|Lung NSC(58;0.00245)|Esophageal squamous(32;0.0559)|Hepatocellular(245;0.0663)|Renal(179;0.188) OV - Ovarian serous cystadenocarcinoma(14;0.000984)|Lung(22;0.00108)|Colorectal(10;0.00245)|LUSC - Lung squamous cell carcinoma(45;0.00392)|COAD - Colon adenocarcinoma(11;0.0264) TGGTCTGCACGTAGCGGAGAG 0.607000 11 19 0 0 1 0 0 DLG5 9231 broad.mit.edu 37 10 79595529 79595529 + Missense_Mutation SNP C C A TCGA-H2-A3RH-01A-11D-A21Z-08 TCGA-H2-A3RH-10A-01D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx e76ddf7f-bf62-4428-8f38-301ea24157f6 10dd44e4-375e-47c0-b545-60c6dc0d1920 g.chr10:79595529C>A uc001jzk.3 - 7 1659 c.1589G>T c.(1588-1590)cGa>cTa p.R530L DLG5_uc001jzj.3_Missense_Mutation_p.R285L|DLG5_uc009xru.1_Non-coding_Transcript|DLG5_uc001jzl.4_Missense_Mutation_p.R134L NM_004747 NP_004738 Q8TDM6 DLG5_HUMAN Homo sapiens discs, large homolog 5 (Drosophila) (DLG5), mRNA. 530 cell-cell adhesion|intracellular signal transduction|negative regulation of cell proliferation|regulation of apoptosis cell junction|cytoplasm beta-catenin binding|cytoskeletal protein binding|receptor signaling complex scaffold activity breast(9)|central_nervous_system(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(8)|lung(17)|ovary(5)|prostate(1)|skin(2)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(2) 60 all_cancers(46;0.0316)|all_epithelial(25;0.00147)|Breast(12;0.0015)|Prostate(51;0.0146) Epithelial(14;0.00105)|OV - Ovarian serous cystadenocarcinoma(4;0.00151)|all cancers(16;0.00446) AATCTTGTCTCGCTCCTGGAA 0.622000 19 22 0 0 1 0 0 SERPINE3 647174 broad.mit.edu 37 13 51915403 51915403 + Missense_Mutation SNP T T C TCGA-H2-A3RH-01A-11D-A21Z-08 TCGA-H2-A3RH-10A-01D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx e76ddf7f-bf62-4428-8f38-301ea24157f6 10dd44e4-375e-47c0-b545-60c6dc0d1920 g.chr13:51915403T>C uc001vfh.2 + 0 236 c.176T>C c.(175-177)cTc>cCc p.L59P SERPINE3_uc010tgp.2_Missense_Mutation_p.L59P NM_001101320 NP_001094790 A8MV23 SERP3_HUMAN Homo sapiens serpin peptidase inhibitor, clade E (nexin, plasminogen activator inhibitor type 1), member 3 (SERPINE3), mRNA. 59 regulation of proteolysis extracellular region serine-type endopeptidase inhibitor activity ovary(2) 2 GGTGTGTCCCTCCCCCTGGAG 0.557000 3 51 0 0 1 0 0 SMARCAL1 50485 broad.mit.edu 37 2 217332707 217332707 + Missense_Mutation SNP T T C TCGA-H2-A3RH-01A-11D-A21Z-08 TCGA-H2-A3RH-10A-01D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx e76ddf7f-bf62-4428-8f38-301ea24157f6 10dd44e4-375e-47c0-b545-60c6dc0d1920 g.chr2:217332707T>C uc002vgc.4 + 13 2512 c.2182T>C c.(2182-2184)Ttt>Ctt p.F728L SMARCAL1_uc002vgd.4_Missense_Mutation_p.F728L|SMARCAL1_uc010fvg.3_Missense_Mutation_p.F706L NM_014140 NP_054859 Q9NZC9 SMAL1_HUMAN Homo sapiens SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily a-like 1 (SMARCAL1), transcript variant 1, mRNA. 728 Helicase C-terminal. DNA metabolic process|chromatin modification|regulation of transcription from RNA polymerase II promoter nucleus ATP binding|DNA binding|DNA helicase activity|DNA-dependent ATPase activity NS(1)|breast(3)|endometrium(4)|kidney(3)|large_intestine(10)|liver(1)|lung(15)|ovary(3)|prostate(1)|skin(1) 42 Renal(323;0.0458) Epithelial(149;9.48e-06)|all cancers(144;0.000621)|LUSC - Lung squamous cell carcinoma(224;0.00829)|Lung(261;0.0111) AAGAGAGAAGTTTTTAGTATT 0.393000 Schimke Immuno-Osseous Dysplasia 4 106 0 0 1 0 0 GRM4 2914 broad.mit.edu 37 6 34003992 34003992 + Missense_Mutation SNP C C T TCGA-H2-A3RH-01A-11D-A21Z-08 TCGA-H2-A3RH-10A-01D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx e76ddf7f-bf62-4428-8f38-301ea24157f6 10dd44e4-375e-47c0-b545-60c6dc0d1920 g.chr6:34003992C>T uc003oir.4 - 7 2258 c.1895G>A c.(1894-1896)gGc>gAc p.G632D GRM4_uc011dsn.2_Missense_Mutation_p.G585D|GRM4_uc010jvh.3_Missense_Mutation_p.G632D|GRM4_uc010jvi.3_Missense_Mutation_p.G324D|GRM4_uc003oio.3_Missense_Mutation_p.G324D|GRM4_uc003oip.3_Non-coding_Transcript|GRM4_uc011dsl.2_Missense_Mutation_p.G492D|GRM4_uc003oiq.3_Missense_Mutation_p.G499D|GRM4_uc011dsm.2_Missense_Mutation_p.G463D NM_000841 NP_000832 Q14833 GRM4_HUMAN Homo sapiens glutamate receptor, metabotropic 4 (GRM4), mRNA. 632 activation of MAPK activity|inhibition of adenylate cyclase activity by metabotropic glutamate receptor signaling pathway|neuroprotection|neurotransmitter secretion|positive regulation of MAPKKK cascade cytoplasmic vesicle|integral to plasma membrane G-protein coupled receptor activity|glutamate receptor activity NS(1)|breast(1)|endometrium(4)|kidney(4)|large_intestine(9)|liver(1)|lung(19)|ovary(1)|prostate(4)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2) 48 L-Glutamic Acid(DB00142) CAGGAAGATGCCTGCCAGCAG 0.597000 3 44 0 0 1 0 0 FAM71F1 84691 broad.mit.edu 37 7 128359074 128359074 + Silent SNP T T A TCGA-H2-A3RH-01A-11D-A21Z-08 TCGA-H2-A3RH-10A-01D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx e76ddf7f-bf62-4428-8f38-301ea24157f6 10dd44e4-375e-47c0-b545-60c6dc0d1920 g.chr7:128359074T>A uc003vno.1 + 2 677 c.624T>A c.(622-624)ccT>ccA p.P208P FAM71F1_uc010llo.1_Silent_p.P109P|FAM71F1_uc011koq.1_Silent_p.P100P|FAM71F1_uc003vnm.1_Non-coding_Transcript|FAM71F1_uc003vnn.1_Silent_p.P109P|FAM71F1_uc010llp.1_Non-coding_Transcript|FAM71F1_uc003vnp.1_Silent_p.P208P NM_032599 NP_115988 Q96KD3 F71F1_HUMAN Homo sapiens family with sequence similarity 71, member F1 (FAM71F1), mRNA. 208 NS(1)|breast(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(6)|prostate(1)|skin(2)|upper_aerodigestive_tract(1) 18 CCAAAGACCCTAGGATTCTTG 0.532000 69 85 0 0 1 0 0 KRAS 3845 broad.mit.edu 37 12 25380277 25380278 + Missense_Mutation DNP GA GA TT rs121913238 TCGA-H2-A3RH-01A-11D-A21Z-08 TCGA-H2-A3RH-10A-01D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx e76ddf7f-bf62-4428-8f38-301ea24157f6 10dd44e4-375e-47c0-b545-60c6dc0d1920 g.chr12:25380277_25380278GA>TT uc001rgp.1 - 2 361_362 c.180_181TC>AA c.(178-183)ggtcaa>ggAAaa p.Q61K KRAS_uc001rgq.1_Missense_Mutation_p.Q61K NM_033360 NP_203524 P01116 RASK_HUMAN Homo sapiens v-Ki-ras2 Kirsten rat sarcoma viral oncogene homolog (KRAS), transcript variant a, mRNA. 61 Q -> H (in lung carcinoma; dbSNP:rs17851045).|Q -> R (in a colorectal cancer sample; somatic mutation). Ras protein signal transduction|activation of MAPKK activity|axon guidance|blood coagulation|epidermal growth factor receptor signaling pathway|insulin receptor signaling pathway|leukocyte migration|nerve growth factor receptor signaling pathway plasma membrane GTP binding|GTPase activity|protein binding p.Q61H(208)|p.Q61L(71)|p.Q61K(64)|p.Q61R(56)|p.Q61E(20)|p.Q61P(12)|p.G60G(2)|p.G60D(2)|p.G60V(1)|p.Q61D(1)|p.G60A(1) UBE2L3/KRAS(2) NS(6)|adrenal_gland(1)|autonomic_ganglia(3)|biliary_tract(532)|bone(2)|breast(32)|central_nervous_system(14)|cervix(50)|endometrium(411)|eye(4)|gastrointestinal_tract_(site_indeterminate)(7)|genital_tract(1)|haematopoietic_and_lymphoid_tissue(385)|kidney(8)|large_intestine(15267)|liver(29)|lung(3407)|oesophagus(16)|ovary(612)|pancreas(3739)|penis(1)|peritoneum(6)|prostate(96)|salivary_gland(6)|skin(45)|small_intestine(68)|soft_tissue(88)|stomach(207)|testis(17)|thymus(5)|thyroid(159)|upper_aerodigestive_tract(68)|urinary_tract(57) 25349 all_cancers(2;1e-35)|all_epithelial(2;1.97e-38)|all_lung(3;2.1e-23)|Lung NSC(3;1.16e-22)|Acute lymphoblastic leukemia(6;0.00231)|all_hematologic(7;0.00259)|Melanoma(3;0.0301)|Colorectal(261;0.11)|Ovarian(17;0.12) OV - Ovarian serous cystadenocarcinoma(3;1.23e-21)|Epithelial(3;1.31e-20)|all cancers(3;5.45e-18)|STAD - Stomach adenocarcinoma(2;2.68e-05) TACTCCTCTTGACCTGCTGTGT 0.411000 Q61K(CALU6_LUNG) 119 Mis """pancreatic, colorectal, lung, thyroid, AML, others""" Noonan syndrome;Cardiofaciocutaneous syndrome TSP Lung(1;<1E-08)|Multiple Myeloma(2;<1E-6) 24 47 0 0 1 0 0 EEF1A1 1915 broad.mit.edu 37 6 74228155 74228158 + Frame_Shift_Del DEL GACA GACA - TCGA-H2-A3RH-01A-11D-A21Z-08 TCGA-H2-A3RH-10A-01D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx e76ddf7f-bf62-4428-8f38-301ea24157f6 10dd44e4-375e-47c0-b545-60c6dc0d1920 g.chr6:74228155_74228158delGACA uc003phi.3 - 4 1940_1943 c.948_951delTGTC c.(946-951)tctgtcfs p.S316fs EEF1A1_uc003phj.3_Frame_Shift_Del_p.S316fs|EEF1A1_uc021zbs.1_Intron|EEF1A1_uc003phl.3_Intron|EEF1A1_uc003phm.1_Intron|EEF1A1_uc021zbt.1_Non-coding_Transcript NM_001402 NP_001393 P68104 EF1A1_HUMAN Homo sapiens eukaryotic translation elongation factor 1 alpha 1 (EEF1A1), mRNA. 316 cytosol|eukaryotic translation elongation factor 1 complex GTP binding|GTPase activity|protein binding|translation elongation factor activity endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(2)|lung(6)|prostate(2)|skin(3) 18 GAACATCCTTGACAGACACATTCT 0.446 OREG0003895 type=REGULATORY REGION|Gene=D16891|Dataset=Stanford ENCODE Dataset|EvidenceSubtype=Transient transfection luciferase assay 35 43 --- --- --- ---