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 KRTAP4-12 83755 broad.mit.edu 37 17 39279800 39279800 + Missense_Mutation SNP C C T TCGA-EM-A2CT-01A-11D-A17V-08 TCGA-EM-A2CT-10A-01D-A17V-08 Untested Somatic Phase_I WXS none Illumina GAIIx c031db9d-3df4-4e30-bd5f-e85ab565782c 9af44b82-f5a6-400d-b9c6-4f00b6a24bdd g.chr17:39279800C>T ENST00000394014.1 - 1 619 c.575G>A c.(574-576)cGc>cAc p.R192H NM_031854.2 NP_114060.1 Q9BQ66 KR412_HUMAN keratin associated protein 4-12 192 keratin filament endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(1)|prostate(1)|upper_aerodigestive_tract(1) 13 Breast(137;0.000496) STAD - Stomach adenocarcinoma(17;0.000371) GCACAAGGGGCGGGGGCAGGT 0.572000 6 17 0 0 3.59834e-05 0 0 NRAS 4893 broad.mit.edu 37 1 115256529 115256529 + Missense_Mutation SNP T T C rs11554290 TCGA-EM-A2CT-01A-11D-A17V-08 TCGA-EM-A2CT-10A-01D-A17V-08 Untested Somatic Phase_I WXS none Illumina GAIIx c031db9d-3df4-4e30-bd5f-e85ab565782c 9af44b82-f5a6-400d-b9c6-4f00b6a24bdd g.chr1:115256529T>C ENST00000369535.4 - 3 435 c.182A>G c.(181-183)cAa>cGa p.Q61R NM_002524.4 NP_002515.1 P01111 RASN_HUMAN neuroblastoma RAS viral (v-ras) oncogene homolog 61 Q -> K (in neuroblastoma cell).|Q -> R (in lung carcinoma cell and melanoma; dbSNP:rs11554290). 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|Ras protein signal transduction Golgi membrane|plasma membrane GTP binding|GTPase activity p.Q61R(817)|p.Q61L(175)|p.Q61P(23)|p.Q61K(1) NS(134)|adrenal_gland(9)|autonomic_ganglia(9)|biliary_tract(6)|bone(1)|breast(9)|central_nervous_system(10)|cervix(2)|endometrium(11)|eye(3)|haematopoietic_and_lymphoid_tissue(1115)|kidney(3)|large_intestine(105)|liver(10)|lung(42)|meninges(2)|ovary(7)|pancreas(5)|prostate(8)|skin(1144)|soft_tissue(37)|stomach(5)|testis(8)|thyroid(359)|upper_aerodigestive_tract(28)|urinary_tract(13) 3085 all_epithelial(7;5.11e-05)|all_lung(7;0.000179)|Lung NSC(6;0.00195)|Lung SC(450;0.211) all_cancers(81;4.64e-07)|all_epithelial(167;4.2e-07)|all_lung(203;9.97e-06)|Lung NSC(69;1.74e-05) Lung(183;0.0234)|Colorectal(144;0.0686)|COAD - Colon adenocarcinoma(174;0.111)|all cancers(265;0.112)|Epithelial(280;0.124)|LUSC - Lung squamous cell carcinoma(189;0.133) GTACTCTTCTTGTCCAGCTGT 0.458000 Q61L(C3A_LIVER)|Q61L(HEPG2_LIVER)|Q61L(HL60_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|Q61L(IPC298_SKIN)|Q61L(KMS21BM_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|Q61L(MELJUSO_SKIN)|Q61L(MHHES1_BONE)|Q61L(MOLP8_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|Q61L(OCIAML3_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|Q61P(TF1_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|Q61R(HT1197_URINARY_TRACT)|Q61R(KMS27_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|Q61R(KU1919_URINARY_TRACT)|Q61R(NCIH2347_LUNG)|Q61R(ONS76_CENTRAL_NERVOUS_SYSTEM)|Q61R(SKMEL2_SKIN)|Q61R(SW1271_LUNG)|Q61R(TT2609C02_THYROID) 50 Mis """melanoma, MM, AML, thyroid""" Noonan syndrome TSP Lung(23;0.16)|Multiple Myeloma(1;<1E-6) 55 105 0 0 0.000781405 0 0 SLC9A4 389015 broad.mit.edu 37 2 103141530 103141530 + Missense_Mutation SNP G G T TCGA-EM-A2CT-01A-11D-A17V-08 TCGA-EM-A2CT-10A-01D-A17V-08 Untested Somatic Phase_I WXS none Illumina GAIIx c031db9d-3df4-4e30-bd5f-e85ab565782c 9af44b82-f5a6-400d-b9c6-4f00b6a24bdd g.chr2:103141530G>T ENST00000295269.4 + 10 2323 c.1866G>T c.(1864-1866)aaG>aaT p.K622N NM_001011552.3 NP_001011552.2 Q6AI14 SL9A4_HUMAN solute carrier family 9, subfamily A (NHE4, cation proton antiporter 4), member 4 622 regulation of pH apical plasma membrane|basolateral plasma membrane|integral to membrane sodium:hydrogen antiporter activity NS(1)|autonomic_ganglia(1)|central_nervous_system(1)|cervix(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(8)|lung(16)|ovary(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 43 CAAGTGAGAAGCAGGCTAAAG 0.498000 8 209 1.12685e-05 0.000370881 0.000274275 1 0 UBBP4 0 broad.mit.edu 37 17 21731144 21731144 + Missense_Mutation SNP T T G rs149119138 by1000genomes TCGA-EM-A2CT-01A-11D-A17V-08 TCGA-EM-A2CT-10A-01D-A17V-08 Untested Somatic Phase_I WXS none Illumina GAIIx c031db9d-3df4-4e30-bd5f-e85ab565782c 9af44b82-f5a6-400d-b9c6-4f00b6a24bdd g.chr17:21731144T>G ENST00000584755.1 + 2 843 c.446T>G c.(445-447)cTg>cGg p.L149R UBBP4_ENST00000578713.1_Missense_Mutation_p.L149R|UBBP4_ENST00000584398.1_3'UTR|UBBP4_ENST00000583708.1_3'UTR p.L149R(18) endometrium(9)|kidney(4)|lung(4)|prostate(3)|urinary_tract(4) 24 GTCCTGCGTCTGAGAGGTGGT 0.542000 5 109 0 0 0.000602214 0 0 DICER1 23405 broad.mit.edu 37 14 95556886 95556886 + Missense_Mutation SNP T T G TCGA-EM-A2CT-01A-11D-A17V-08 TCGA-EM-A2CT-10A-01D-A17V-08 Untested Somatic Phase_I WXS none Illumina GAIIx c031db9d-3df4-4e30-bd5f-e85ab565782c 9af44b82-f5a6-400d-b9c6-4f00b6a24bdd g.chr14:95556886T>G ENST00000526495.1 - 29 6009 c.5718A>C c.(5716-5718)agA>agC p.R1906S DICER1_ENST00000556045.1_Missense_Mutation_p.R804S|DICER1_ENST00000541352.1_3'UTR|DICER1_ENST00000527414.1_Missense_Mutation_p.R1906S|DICER1_ENST00000393063.1_Missense_Mutation_p.R1906S|DICER1_ENST00000527416.2_5'UTR|DICER1_ENST00000343455.3_Missense_Mutation_p.R1906S Q9UPY3 DICER_HUMAN dicer 1, ribonuclease type III 1906 DRBM. negative regulation of Schwann cell proliferation|negative regulation of transcription from RNA polymerase II promoter|nerve development|neuron projection morphogenesis|peripheral nervous system myelin formation|positive regulation of myelination|positive regulation of Schwann cell differentiation|pre-miRNA processing|production of siRNA involved in RNA interference|targeting of mRNA for destruction involved in RNA interference cytosol|RNA-induced silencing complex ATP binding|ATP-dependent helicase activity|double-stranded RNA binding|metal ion binding|protein binding|ribonuclease III activity NS(1)|autonomic_ganglia(1)|biliary_tract(1)|breast(1)|central_nervous_system(1)|endometrium(13)|kidney(3)|large_intestine(10)|lung(33)|ovary(1)|pancreas(1)|prostate(3)|skin(3)|upper_aerodigestive_tract(3) 75 all_cancers(154;0.0621)|all_epithelial(191;0.223) Epithelial(152;0.211)|COAD - Colon adenocarcinoma(157;0.215) GGAGGGCTCTTCTTGCTGCTG 0.418000 """Mis F, N""" """sex cord-stromal tumour, TGCT, embryonal rhadomyosarcoma""" pleuropulmonary blastoma Familial Multinodular Goiter ;DICER 1 syndrome 59 106 0 0 0.000781405 0 0 WDR7 23335 broad.mit.edu 37 18 54603138 54603138 + Splice_Site SNP T T C TCGA-EM-A2CT-01A-11D-A17V-08 TCGA-EM-A2CT-10A-01D-A17V-08 Untested Somatic Phase_I WXS none Illumina GAIIx c031db9d-3df4-4e30-bd5f-e85ab565782c 9af44b82-f5a6-400d-b9c6-4f00b6a24bdd g.chr18:54603138T>C ENST00000254442.3 + 23 4042 c.e23+2 WDR7_ENST00000589935.1_Intron|WDR7_ENST00000357574.3_Splice_Site NM_015285.2 NP_056100.2 Q9Y4E6 WDR7_HUMAN WD repeat domain 7 NS(1)|breast(5)|cervix(1)|endometrium(6)|kidney(2)|large_intestine(14)|lung(37)|ovary(3)|prostate(2)|skin(4)|upper_aerodigestive_tract(3) 78 Lung(128;0.0238)|Colorectal(16;0.0296) GCCAAAGAGGTGAGCGGAACT 0.517000 10 90 0 0 0.000442599 0 0 HLA-A 3105 broad.mit.edu 37 6 29910607 29910607 + Silent SNP G G C rs72555397 TCGA-EM-A2CT-01A-11D-A17V-08 TCGA-EM-A2CT-10A-01D-A17V-08 Untested Somatic Phase_I WXS none Illumina GAIIx c031db9d-3df4-4e30-bd5f-e85ab565782c 9af44b82-f5a6-400d-b9c6-4f00b6a24bdd g.chr6:29910607G>C ENST00000396634.1 + 4 488 c.147G>C c.(145-147)gtG>gtC p.V49V HLA-A_ENST00000376806.5_Silent_p.V49V|HLA-A_ENST00000376802.2_Silent_p.V49V|HLA-A_ENST00000376809.5_Silent_p.V49V P30443 1A01_HUMAN major histocompatibility complex, class I, A 49 Alpha-1. antigen processing and presentation of peptide antigen via MHC class I|interferon-gamma-mediated signaling pathway|interspecies interaction between organisms|regulation of immune response|type I interferon-mediated signaling pathway integral to plasma membrane|MHC class I protein complex MHC class I receptor activity p.V49V(2) central_nervous_system(2)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(10)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(5)|urinary_tract(2) 30 TCATCGCCGTGGGCTACGTGG 0.692000 Osteosarcoma, Familial Clustering of;Naso-/Oropharyngeal/Laryngeal Cancer, Familial Clustering of;Melanoma, Familial Clustering of;Lichen Sclerosis et Atrophicus, Familial Clustering of Multiple Myeloma(9;0.094) 4 39 0 0 0.00024832 0 0 LL22NC03-80A10.6 0 broad.mit.edu 37 22 22661312 22661312 + RNA SNP T T C rs3855711 TCGA-EM-A2CT-01A-11D-A17V-08 TCGA-EM-A2CT-10A-01D-A17V-08 Untested Somatic Phase_I WXS none Illumina GAIIx c031db9d-3df4-4e30-bd5f-e85ab565782c 9af44b82-f5a6-400d-b9c6-4f00b6a24bdd g.chr22:22661312T>C ENST00000426066.1 + 0 360 NR_027293.1 TGAATTTGTGTAGAACTTTGA 0.473000 3 51 0 0 8.12818e-05 0 0 PRSS3P2 0 broad.mit.edu 37 7 142481342 142481342 + RNA SNP G G C rs146962136 by1000genomes TCGA-EM-A2CT-01A-11D-A17V-08 TCGA-EM-A2CT-10A-01D-A17V-08 Untested Somatic Phase_I WXS none Illumina GAIIx c031db9d-3df4-4e30-bd5f-e85ab565782c 9af44b82-f5a6-400d-b9c6-4f00b6a24bdd g.chr7:142481342G>C ENST00000603901.1 + 0 416 NR_001296.3 GGCACCGAGTGCCTTATCTCC 0.557000 3 30 0 0 0.00024832 0 0 IRS1 3667 broad.mit.edu 37 2 227661463 227661463 + Missense_Mutation SNP C C A TCGA-EM-A2CT-01A-11D-A17V-08 TCGA-EM-A2CT-10A-01D-A17V-08 Untested Somatic Phase_I WXS none Illumina GAIIx c031db9d-3df4-4e30-bd5f-e85ab565782c 9af44b82-f5a6-400d-b9c6-4f00b6a24bdd g.chr2:227661463C>A ENST00000305123.4 - 1 3012 c.1992G>T c.(1990-1992)atG>atT p.M664I NM_005544.2 NP_005535.1 P35568 IRS1_HUMAN insulin receptor substrate 1 664 fibroblast growth factor receptor signaling pathway|glucose homeostasis|insulin receptor signaling pathway|negative regulation of insulin receptor signaling pathway|negative regulation of insulin secretion|nerve growth factor receptor signaling pathway|phosphatidylinositol 3-kinase cascade|phosphatidylinositol-mediated signaling|positive regulation of fatty acid beta-oxidation|positive regulation of glucose import|positive regulation of glycogen biosynthetic process|positive regulation of insulin receptor signaling pathway|positive regulation of phosphatidylinositol 3-kinase activity caveola|cytosol|insulin receptor complex|microsome|nucleus insulin receptor binding|insulin-like growth factor receptor binding|phosphatidylinositol 3-kinase binding|protein kinase C binding|SH2 domain binding|transmembrane receptor protein tyrosine kinase adaptor activity autonomic_ganglia(1)|breast(2)|central_nervous_system(4)|endometrium(5)|kidney(4)|large_intestine(10)|lung(33)|ovary(6)|pancreas(1)|prostate(1)|urinary_tract(2) 69 Renal(207;0.023)|all_lung(227;0.0994)|all_hematologic(139;0.118)|Esophageal squamous(248;0.23) Epithelial(121;3.03e-11)|all cancers(144;2.42e-08)|Lung(261;0.00712)|LUSC - Lung squamous cell carcinoma(224;0.0137) TGGGGGACATCATCATGTAGC 0.597000 OREG0015248 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 6 97 2.0095e-06 6.9145e-05 8.12818e-05 1 0 GOLGA6L5 0 broad.mit.edu 37 15 85053142 85053142 + RNA SNP C C T TCGA-EM-A2CT-01A-11D-A17V-08 TCGA-EM-A2CT-10A-01D-A17V-08 Untested Somatic Phase_I WXS none Illumina GAIIx c031db9d-3df4-4e30-bd5f-e85ab565782c 9af44b82-f5a6-400d-b9c6-4f00b6a24bdd g.chr15:85053142C>T ENST00000414190.2 - 0 310 NR_003246.2 TTTTTCAATTCCTTGACCCGC 0.413000 4 18 0 0 0.000274275 0 0 NGEF 25791 broad.mit.edu 37 2 233744290 233744290 + Missense_Mutation SNP A A G TCGA-EM-A2CT-01A-11D-A17V-08 TCGA-EM-A2CT-10A-01D-A17V-08 Untested Somatic Phase_I WXS none Illumina GAIIx c031db9d-3df4-4e30-bd5f-e85ab565782c 9af44b82-f5a6-400d-b9c6-4f00b6a24bdd g.chr2:233744290A>G ENST00000264051.3 - 15 2320 c.2042T>C c.(2041-2043)cTc>cCc p.L681P NGEF_ENST00000539537.1_Missense_Mutation_p.L404P|NGEF_ENST00000373552.4_Missense_Mutation_p.L589P NM_019850.2 NP_062824.2 Q8N5V2 NGEF_HUMAN neuronal guanine nucleotide exchange factor 681 apoptosis|cell differentiation|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|nervous system development|regulation of Rho protein signal transduction|small GTPase mediated signal transduction cytosol|growth cone|plasma membrane Rho guanyl-nucleotide exchange factor activity central_nervous_system(4)|endometrium(8)|kidney(2)|large_intestine(3)|lung(10)|ovary(3)|pancreas(1)|skin(4) 35 Breast(86;0.00279)|Renal(207;0.00339)|all_hematologic(139;0.00793)|Acute lymphoblastic leukemia(138;0.0182)|all_lung(227;0.0271)|Lung NSC(271;0.0839) Epithelial(121;8.65e-17)|BRCA - Breast invasive adenocarcinoma(100;0.00037)|LUSC - Lung squamous cell carcinoma(224;0.00813)|Lung(119;0.00984)|GBM - Glioblastoma multiforme(43;0.0604) ACATTCCTTGAGGTTCTGGGA 0.592000 4 113 0 0 0.00024832 0 0 LL22NC03-80A10.6 0 broad.mit.edu 37 22 22664056 22664056 + RNA SNP T T C rs3178309 TCGA-EM-A2CT-01A-11D-A17V-08 TCGA-EM-A2CT-10A-01D-A17V-08 Untested Somatic Phase_I WXS none Illumina GAIIx c031db9d-3df4-4e30-bd5f-e85ab565782c 9af44b82-f5a6-400d-b9c6-4f00b6a24bdd g.chr22:22664056T>C ENST00000426066.1 + 0 623 NR_027293.1 ATAAAGTATATGATTTTGTGT 0.348000 4 44 0 0 0.000602214 0 0 TP73 7161 broad.mit.edu 37 1 3599677 3599677 + Missense_Mutation SNP A A G TCGA-EM-A2CT-01A-11D-A17V-08 TCGA-EM-A2CT-10A-01D-A17V-08 Untested Somatic Phase_I WXS none Illumina GAIIx c031db9d-3df4-4e30-bd5f-e85ab565782c 9af44b82-f5a6-400d-b9c6-4f00b6a24bdd g.chr1:3599677A>G ENST00000378295.4 + 3 274 c.119A>G c.(118-120)gAg>gGg p.E40G TP73_ENST00000603362.1_Missense_Mutation_p.E40G|TP73_ENST00000357733.3_Missense_Mutation_p.E40G|TP73_ENST00000354437.4_Missense_Mutation_p.E40G|TP73_ENST00000346387.4_Missense_Mutation_p.E40G|TP73_ENST00000604074.1_Missense_Mutation_p.E40G|TP73_ENST00000604479.1_Missense_Mutation_p.E40G NM_001204185.1|NM_005427.3 NP_001191114.1|NP_005418.1 O15350 P73_HUMAN tumor protein p73 40 Asp/Glu-rich (acidic).|Transactivation (By similarity). cellular response to UV|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|mismatch repair|mitotic cell cycle G1/S transition DNA damage checkpoint|negative regulation of JUN kinase activity|negative regulation of neuron apoptosis|negative regulation of transcription from RNA polymerase II promoter|positive regulation of transcription, DNA-dependent|protein tetramerization|response to gamma radiation|response to X-ray chromatin|cytosol|transcription factor complex chromatin binding|damaged DNA binding|double-stranded DNA binding|metal ion binding|p53 binding|protein binding|sequence-specific DNA binding transcription factor activity|transcription factor binding|transcription regulatory region DNA binding|transcription repressor activity breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|lung(8)|ovary(1)|prostate(1) 20 all_cancers(77;0.0395)|Ovarian(185;0.0634)|Lung NSC(156;0.188)|all_lung(157;0.198) all_epithelial(116;7.42e-17)|all_lung(118;1.86e-06)|Lung NSC(185;0.000163)|Renal(390;0.00357)|Breast(487;0.00446)|Hepatocellular(190;0.0218)|Myeloproliferative disorder(586;0.0393)|Lung SC(97;0.109)|Ovarian(437;0.127) Epithelial(90;5.57e-38)|OV - Ovarian serous cystadenocarcinoma(86;1.87e-22)|GBM - Glioblastoma multiforme(42;5.72e-16)|Colorectal(212;2.22e-05)|COAD - Colon adenocarcinoma(227;8.48e-05)|Kidney(185;0.000539)|BRCA - Breast invasive adenocarcinoma(365;0.000868)|STAD - Stomach adenocarcinoma(132;0.0072)|KIRC - Kidney renal clear cell carcinoma(229;0.00751)|Lung(427;0.226) GGGAATAATGAGGTGGTGGGC 0.587000 3 115 0 0 6.4e-05 0 0 OSMR 9180 broad.mit.edu 37 5 38925336 38925336 + Missense_Mutation SNP A A G TCGA-EM-A2CT-01A-11D-A17V-08 TCGA-EM-A2CT-10A-01D-A17V-08 Untested Somatic Phase_I WXS none Illumina GAIIx c031db9d-3df4-4e30-bd5f-e85ab565782c 9af44b82-f5a6-400d-b9c6-4f00b6a24bdd g.chr5:38925336A>G ENST00000274276.3 + 15 2477 c.2075A>G c.(2074-2076)gAc>gGc p.D692G NM_003999.2 NP_003990.1 Q99650 OSMR_HUMAN oncostatin M receptor 692 Fibronectin type-III 4. cell proliferation|positive regulation of cell proliferation oncostatin-M receptor complex growth factor binding|oncostatin-M receptor activity NS(1)|breast(3)|central_nervous_system(2)|endometrium(1)|kidney(1)|large_intestine(8)|lung(20)|ovary(2)|pancreas(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(2) 46 all_lung(31;0.000365) TACAAAATTGACAACCCGGAA 0.348000 3 82 0 0 6.4e-05 0 0 EEF1B2 1933 broad.mit.edu 37 2 207025358 207025358 + Missense_Mutation SNP A A G TCGA-EM-A2CT-01A-11D-A17V-08 TCGA-EM-A2CT-10A-01D-A17V-08 Untested Somatic Phase_I WXS none Illumina GAIIx c031db9d-3df4-4e30-bd5f-e85ab565782c 9af44b82-f5a6-400d-b9c6-4f00b6a24bdd g.chr2:207025358A>G ENST00000392222.2 + 2 502 c.127A>G c.(127-129)Agc>Ggc p.S43G EEF1B2_ENST00000392221.1_Missense_Mutation_p.S43G|EEF1B2_ENST00000236957.5_Missense_Mutation_p.S43G NM_001959.3 NP_001950.1 P24534 EF1B_HUMAN eukaryotic translation elongation factor 1 beta 2 43 GST C-terminal. cytosol|eukaryotic translation elongation factor 1 complex protein binding|translation elongation factor activity p.S43G(4) breast(1)|endometrium(5)|kidney(3)|large_intestine(1)|lung(6) 16 AGCCGTGTCCAGCCCACCGCC 0.468000 3 102 0 0 6.4e-05 0 0 CC2D2A 57545 broad.mit.edu 37 4 15513005 15513007 + In_Frame_Del DEL GAA GAA - rs112367037 TCGA-EM-A2CT-01A-11D-A17V-08 TCGA-EM-A2CT-10A-01D-A17V-08 Untested Somatic Phase_I WXS none Illumina GAIIx c031db9d-3df4-4e30-bd5f-e85ab565782c 9af44b82-f5a6-400d-b9c6-4f00b6a24bdd g.chr4:15513005_15513007delGAA ENST00000424120.1 + 8 930_932 c.676_678delGAA c.(676-678)del p.E229del CC2D2A_ENST00000389652.5_In_Frame_Del_p.E180del|CC2D2A_ENST00000513811.1_3'UTR|CC2D2A_ENST00000503292.1_In_Frame_Del_p.E229del|CC2D2A_ENST00000413206.1_In_Frame_Del_p.E229del Q9P2K1 C2D2A_HUMAN coiled-coil and C2 domain containing 2A 229 Poly-Glu. cell projection organization cilium|microtubule basal body NS(1)|breast(2)|central_nervous_system(1)|endometrium(6)|kidney(1)|large_intestine(8)|lung(5)|ovary(1)|pancreas(2)|prostate(2)|skin(1)|urinary_tract(2) 32 GGAGGAAGGGGAAGAAGAAGAAC 0.443 10 11 --- --- --- --- MANEA 79694 broad.mit.edu 37 6 96034896 96034897 + Frame_Shift_Del DEL TG TG - TCGA-EM-A2CT-01A-11D-A17V-08 TCGA-EM-A2CT-10A-01D-A17V-08 Untested Somatic Phase_I WXS none Illumina GAIIx c031db9d-3df4-4e30-bd5f-e85ab565782c 9af44b82-f5a6-400d-b9c6-4f00b6a24bdd g.chr6:96034896_96034897delTG ENST00000369293.1 + 2 715_716 c.581_582delTG c.(580-582)cfs p.L194fs MANEA_ENST00000358812.4_Intron Q5SRI9 MANEA_HUMAN mannosidase, endo-alpha 0 Catalytic (Probable). post-translational protein modification|protein N-linked glycosylation via asparagine Golgi membrane|integral to membrane glycoprotein endo-alpha-1,2-mannosidase activity breast(2)|endometrium(3)|kidney(2)|liver(2)|lung(13)|ovary(2)|skin(1)|upper_aerodigestive_tract(1) 26 all_cancers(76;1.01e-06)|Acute lymphoblastic leukemia(125;3.58e-09)|all_hematologic(75;1.22e-06)|all_epithelial(107;0.00433)|Colorectal(196;0.0341) BRCA - Breast invasive adenocarcinoma(108;0.148) tgtttgtgtctgtatatatgca 0.282 4 7 --- --- --- --- MICALCL 84953 broad.mit.edu 37 11 12316384 12316389 + In_Frame_Del DEL CTCCTA CTCCTA - rs3812754 byFrequency TCGA-EM-A2CT-01A-11D-A17V-08 TCGA-EM-A2CT-10A-01D-A17V-08 Untested Somatic Phase_I WXS none Illumina GAIIx c031db9d-3df4-4e30-bd5f-e85ab565782c 9af44b82-f5a6-400d-b9c6-4f00b6a24bdd g.chr11:12316384_12316389delCTCCTA ENST00000256186.2 + 3 1697_1702 c.1406_1411delCTCCTA c.(1405-1413)cca>c p.PPT469del NM_032867.2 NP_116256.2 Q6ZW33 MICLK_HUMAN MICAL C-terminal like 469 Poly-Pro. cell differentiation|multicellular organismal development|spermatogenesis cytoplasm mitogen-activated protein kinase binding p.T471delT(2) breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(5)|lung(5)|ovary(3)|skin(3)|upper_aerodigestive_tract(1) 30 Epithelial(150;0.00177) cctcctcctcctcctACAGCGGGAGG 0.573 5 2 --- --- --- --- MED15 51586 broad.mit.edu 37 22 20920814 20920816 + In_Frame_Del DEL CAG CAG - rs71769813 TCGA-EM-A2CT-01A-11D-A17V-08 TCGA-EM-A2CT-10A-01D-A17V-08 Untested Somatic Phase_I WXS none Illumina GAIIx c031db9d-3df4-4e30-bd5f-e85ab565782c 9af44b82-f5a6-400d-b9c6-4f00b6a24bdd g.chr22:20920814_20920816delCAG ENST00000263205.7 + 7 820_822 c.751_753delCAG c.(751-753)del p.Q262del MED15_ENST00000406969.1_In_Frame_Del_p.Q236del|MED15_ENST00000425759.2_In_Frame_Del_p.Q151del|MED15_ENST00000541476.1_In_Frame_Del_p.Q236del|MED15_ENST00000478831.1_3'UTR|MED15_ENST00000382974.2_In_Frame_Del_p.Q191del|MED15_ENST00000292733.7_In_Frame_Del_p.Q262del|MED15_ENST00000542773.1_In_Frame_Del_p.Q67del NM_001003891.1 NP_001003891.1 Q96RN5 MED15_HUMAN mediator complex subunit 15 262 Poly-Gln. Missing. Missing (in Ref. 3; BAB85034). regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent Golgi apparatus|mediator complex protein binding p.Q250_Q251insQ(4) central_nervous_system(1)|endometrium(5)|kidney(3)|large_intestine(2)|lung(8)|ovary(1)|prostate(1)|skin(3)|urinary_tract(1) 25 all_cancers(11;2.07e-24)|Melanoma(16;0.000465)|Ovarian(15;0.00167)|Colorectal(54;0.0221)|all_neural(72;0.142) Lung SC(17;0.0262) LUSC - Lung squamous cell carcinoma(15;0.00102)|Lung(15;0.0173)|Epithelial(17;0.209) acaacagcaacagcagcagcagc 0.591 10 77 --- --- --- ---