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 ANKRD36 375248 broad.mit.edu 37 2 97867956 97867956 + Missense_Mutation SNP C C T TCGA-DE-A4MD-01A-11D-A257-08 TCGA-DE-A4MD-10A-01D-A25A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 128eeeac-803e-489e-bd6d-fa9972824ded 59a49a5a-e5fc-4684-b043-d5992e423463 g.chr2:97867956C>T ENST00000420699.2 + 47 3119 c.2875C>T c.(2875-2877)Cca>Tca p.P959S ANKRD36_ENST00000461153.2_Missense_Mutation_p.P959S NM_001164315.1 NP_001157787.1 A6QL64 AN36A_HUMAN ankyrin repeat domain 36 959 endometrium(9)|kidney(5)|liver(1)|lung(3)|ovary(2)|prostate(2)|upper_aerodigestive_tract(1) 23 TCAGAAACCACCAGCCTTGAA 0.333000 4 53 0 0 1 0 0 MYH7 4625 broad.mit.edu 37 14 23887583 23887583 + Silent SNP C C T rs144465613 byFrequency TCGA-DE-A4MD-01A-11D-A257-08 TCGA-DE-A4MD-10A-01D-A25A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 128eeeac-803e-489e-bd6d-fa9972824ded 59a49a5a-e5fc-4684-b043-d5992e423463 g.chr14:23887583C>T ENST00000355349.3 - 30 4167 c.4005G>A c.(4003-4005)tcG>tcA p.S1335S NM_000257.2 NP_000248.2 P12883 MYH7_HUMAN myosin, heavy chain 7, cardiac muscle, beta 1335 adult heart development|muscle filament sliding|regulation of heart rate|ventricular cardiac muscle tissue morphogenesis focal adhesion|muscle myosin complex|myosin filament|nucleus|sarcomere actin binding|actin-dependent ATPase activity|ATP binding|calmodulin binding|microfilament motor activity|structural constituent of muscle p.S1335S(3) NS(3)|breast(4)|central_nervous_system(2)|cervix(2)|endometrium(14)|haematopoietic_and_lymphoid_tissue(3)|kidney(5)|large_intestine(19)|lung(57)|ovary(5)|prostate(9)|skin(5)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(5) 137 all_cancers(95;2.54e-05) GBM - Glioblastoma multiforme(265;0.00725) CATGCCGGGCCGACTGCAGTG 0.662000 4 63 0 0 1 0 0 ST18 9705 broad.mit.edu 37 8 53045843 53045843 + Silent SNP G G A TCGA-DE-A4MD-01A-11D-A257-08 TCGA-DE-A4MD-10A-01D-A25A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 128eeeac-803e-489e-bd6d-fa9972824ded 59a49a5a-e5fc-4684-b043-d5992e423463 g.chr8:53045843G>A ENST00000276480.7 - 20 3002 c.2319C>T c.(2317-2319)tgC>tgT p.C773C NM_014682.2 NP_055497.1 O60284 ST18_HUMAN suppression of tumorigenicity 18 (breast carcinoma) (zinc finger protein) 773 nucleus DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding NS(1)|breast(2)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(14)|lung(38)|ovary(4)|prostate(2)|skin(11)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(2) 85 Lung NSC(129;0.131)|all_epithelial(80;0.217)|all_lung(136;0.229) CCGAGCCATCGCAGCCTGGGG 0.522000 20 42 0 0 1 0 0 DDN 23109 broad.mit.edu 37 12 49392347 49392347 + Silent SNP C C T TCGA-DE-A4MD-01A-11D-A257-08 TCGA-DE-A4MD-10A-01D-A25A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 128eeeac-803e-489e-bd6d-fa9972824ded 59a49a5a-e5fc-4684-b043-d5992e423463 g.chr12:49392347C>T ENST00000421952.2 - 2 333 c.312G>A c.(310-312)gaG>gaA p.E104E RP11-386G11.5_ENST00000547866.1_RNA|RP11-386G11.5_ENST00000552933.1_RNA|RP11-386G11.5_ENST00000552284.1_RNA|RP11-386G11.5_ENST00000547395.1_RNA NM_015086.1 NP_055901.2 O94850 DEND_HUMAN dendrin 104 dendritic spine membrane|endoplasmic reticulum membrane|nucleus|perikaryon NS(1)|kidney(1)|large_intestine(1)|lung(3)|prostate(1)|stomach(1) 8 GAGCTCGGACCTCGGCCAGGG 0.741000 15 26 0 0 1 0 0 HLA-DQB2 3120 broad.mit.edu 37 6 32725596 32725596 + Silent SNP C C G rs115565146 by1000genomes TCGA-DE-A4MD-01A-11D-A257-08 TCGA-DE-A4MD-10A-01D-A25A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 128eeeac-803e-489e-bd6d-fa9972824ded 59a49a5a-e5fc-4684-b043-d5992e423463 g.chr6:32725596C>G ENST00000435145.2 - 4 772 c.711G>C c.(709-711)ctG>ctC p.L237L HLA-DQB2_ENST00000411527.1_Intron|HLA-DQB2_ENST00000437316.2_Silent_p.L237L Q5SR06 Q5SR06_HUMAN major histocompatibility complex, class II, DQ beta 2 216 antigen processing and presentation of peptide or polysaccharide antigen via MHC class II|immune response integral to membrane|MHC class II protein complex endometrium(1)|kidney(1)|lung(1)|prostate(2) 5 CGAGGAAGATCAGCCCCAGCA 0.562000 4 20 0 0 1 0 0 ANGPT2 285 broad.mit.edu 37 8 6371296 6371296 + Missense_Mutation SNP G G A TCGA-DE-A4MD-01A-11D-A257-08 TCGA-DE-A4MD-10A-01D-A25A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 128eeeac-803e-489e-bd6d-fa9972824ded 59a49a5a-e5fc-4684-b043-d5992e423463 g.chr8:6371296G>A ENST00000325203.5 - 7 1576 c.1102C>T c.(1102-1104)Cgc>Tgc p.R368C ANGPT2_ENST00000523120.1_Missense_Mutation_p.R367C|ANGPT2_ENST00000415216.1_Missense_Mutation_p.R367C|MCPH1_ENST00000344683.5_Intron|ANGPT2_ENST00000338312.6_Missense_Mutation_p.R316C O15123 ANGP2_HUMAN angiopoietin 2 368 Fibrinogen C-terminal. angiogenesis|blood coagulation|leukocyte migration|negative regulation of blood vessel endothelial cell migration|negative regulation of positive chemotaxis|Tie receptor signaling pathway extracellular space metal ion binding|receptor tyrosine kinase binding p.R368C(4) breast(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(6)|skin(1)|upper_aerodigestive_tract(1) 17 Hepatocellular(245;0.0663) Colorectal(4;0.0142)|READ - Rectum adenocarcinoma(4;0.19)|COAD - Colon adenocarcinoma(4;0.226) AGCACATAGCGTTGCTGATTA 0.363000 42 40 0 0 1 0 0 STAT5A 6776 broad.mit.edu 37 17 40447745 40447745 + Silent SNP C C T TCGA-DE-A4MD-01A-11D-A257-08 TCGA-DE-A4MD-10A-01D-A25A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 128eeeac-803e-489e-bd6d-fa9972824ded 59a49a5a-e5fc-4684-b043-d5992e423463 g.chr17:40447745C>T ENST00000345506.4 + 6 1126 c.484C>T c.(484-486)Ctg>Ttg p.L162L STAT5A_ENST00000452307.2_Silent_p.L162L|STAT5A_ENST00000588868.1_Silent_p.L162L|STAT5A_ENST00000546010.2_Silent_p.L132L|STAT5A_ENST00000590949.1_Silent_p.L162L NM_003152.3 NP_003143.2 P42229 STA5A_HUMAN signal transducer and activator of transcription 5A 162 2-oxoglutarate metabolic process|allantoin metabolic process|citrate metabolic process|creatine metabolic process|creatinine metabolic process|fatty acid metabolic process|isoleucine metabolic process|oxaloacetate metabolic process|succinate metabolic process|taurine metabolic process|valine metabolic process cytosol|nucleoplasm calcium ion binding|DNA binding|protein binding|sequence-specific DNA binding transcription factor activity central_nervous_system(1)|kidney(2)|large_intestine(1)|lung(8)|ovary(1)|upper_aerodigestive_tract(1) 14 all_cancers(22;1.56e-06)|all_epithelial(22;3.17e-05)|Breast(137;0.000143) BRCA - Breast invasive adenocarcinoma(366;0.128) AGAGAATGAGCTGAAGAAACT 0.567000 14 15 0 0 1 0 0 SETX 23064 broad.mit.edu 37 9 135205596 135205596 + Silent SNP T T A TCGA-DE-A4MD-01A-11D-A257-08 TCGA-DE-A4MD-10A-01D-A25A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 128eeeac-803e-489e-bd6d-fa9972824ded 59a49a5a-e5fc-4684-b043-d5992e423463 g.chr9:135205596T>A ENST00000372169.2 - 10 1571 c.1389A>T c.(1387-1389)gtA>gtT p.V463V SETX_ENST00000393220.1_Silent_p.V463V|SETX_ENST00000224140.5_Silent_p.V463V Q7Z333 SETX_HUMAN senataxin 463 cell death|double-strand break repair|RNA processing cytoplasm|nucleolus|nucleoplasm ATP binding|DNA helicase activity breast(7)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(25)|liver(1)|lung(36)|ovary(2)|prostate(2)|skin(1)|stomach(4)|upper_aerodigestive_tract(1)|urinary_tract(2) 97 Myeloproliferative disorder(178;0.204) OV - Ovarian serous cystadenocarcinoma(145;6.82e-06)|Epithelial(140;0.000171) CAATCACTGATACCAAAATTA 0.398000 4 48 0 0 1 0 0 MEN1 0 broad.mit.edu 37 11 64575521 64575521 + Nonsense_Mutation SNP G G A TCGA-DE-A4MD-01A-11D-A257-08 TCGA-DE-A4MD-10A-01D-A25A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 128eeeac-803e-489e-bd6d-fa9972824ded 59a49a5a-e5fc-4684-b043-d5992e423463 g.chr11:64575521G>A ENST00000337652.1 - 3 1014 c.511C>T c.(511-513)Cag>Tag p.Q171* MEN1_ENST00000394376.1_Nonsense_Mutation_p.Q171*|MEN1_ENST00000377321.1_Nonsense_Mutation_p.Q166*|MEN1_ENST00000377313.1_Nonsense_Mutation_p.Q171*|MEN1_ENST00000394374.2_Nonsense_Mutation_p.Q171*|MEN1_ENST00000377326.3_Nonsense_Mutation_p.Q166*|MEN1_ENST00000443283.1_Nonsense_Mutation_p.Q171*|MEN1_ENST00000377316.2_Nonsense_Mutation_p.Q166*|MEN1_ENST00000312049.6_Nonsense_Mutation_p.Q166*|MEN1_ENST00000315422.4_Nonsense_Mutation_p.Q166* NM_130803.2 NP_570715.1 O00255 MEN1_HUMAN multiple endocrine neoplasia I 171 Missing (in MEN1). DNA repair|histone lysine methylation|MAPKKK cascade|negative regulation of cell proliferation|negative regulation of cyclin-dependent protein kinase activity|negative regulation of JNK cascade|negative regulation of osteoblast differentiation|negative regulation of protein phosphorylation|negative regulation of sequence-specific DNA binding transcription factor activity|negative regulation of telomerase activity|negative regulation of transcription from RNA polymerase II promoter|osteoblast development|positive regulation of protein binding|positive regulation of transforming growth factor beta receptor signaling pathway|response to gamma radiation|response to UV|transcription, DNA-dependent chromatin|cleavage furrow|cytosol|histone methyltransferase complex|nuclear matrix|soluble fraction double-stranded DNA binding|four-way junction DNA binding|protein binding, bridging|protein N-terminus binding|R-SMAD binding|transcription regulatory region DNA binding|Y-form DNA binding NS(7)|adrenal_gland(5)|breast(2)|central_nervous_system(5)|endometrium(1)|gastrointestinal_tract_(site_indeterminate)(15)|large_intestine(2)|lung(21)|ovary(1)|pancreas(64)|parathyroid(181)|pituitary(7)|prostate(4)|retroperitoneum(1)|skin(1)|small_intestine(13)|soft_tissue(4)|stomach(1)|thymus(2) 337 CCCAGGGCCTGGCAGGCCCCA 0.602000 """D, Mis, N, F, S""" """parathyroid tumors, Pancreatic neuroendocrine tumors""" """parathyroid adenoma, pituitary adenoma, pancreatic islet cell, carcinoid""" Multiple Endocrine Neoplasia, type 1;Hyperparathyroidism, Familial Isolated 12 0 0 0 1 0 0 NYNRIN 57523 broad.mit.edu 37 14 24886268 24886268 + Silent SNP C C T TCGA-DE-A4MD-01A-11D-A257-08 TCGA-DE-A4MD-10A-01D-A25A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 128eeeac-803e-489e-bd6d-fa9972824ded 59a49a5a-e5fc-4684-b043-d5992e423463 g.chr14:24886268C>T ENST00000382554.3 + 9 5631 c.5313C>T c.(5311-5313)ccC>ccT p.P1771P NM_025081.2 NP_079357.2 Q9P2P1 NYNRI_HUMAN NYN domain and retroviral integrase containing 1771 Integrase catalytic. DNA integration integral to membrane DNA binding breast(3)|central_nervous_system(1)|endometrium(7)|kidney(6)|large_intestine(8)|lung(21)|ovary(2)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(1) 56 TCACGGAGCCCCTGTGGTGGG 0.632000 44 34 0 0 1 0 0 RPS4X 6191 broad.mit.edu 37 X 71493125 71493125 + Missense_Mutation SNP T T A TCGA-DE-A4MD-01A-11D-A257-08 TCGA-DE-A4MD-10A-01D-A25A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 128eeeac-803e-489e-bd6d-fa9972824ded 59a49a5a-e5fc-4684-b043-d5992e423463 g.chrX:71493125T>A ENST00000316084.6 - 6 751 c.647A>T c.(646-648)aAc>aTc p.N216I RPS4X_ENST00000486733.1_5'UTR NM_001007.4 NP_000998.1 P62701 RS4X_HUMAN ribosomal protein S4, X-linked 216 endocrine pancreas development|positive regulation of cell proliferation|positive regulation of translation|translational elongation|translational termination|viral transcription cytosolic small ribosomal subunit|polysome rRNA binding|structural constituent of ribosome NS(1)|large_intestine(1) 2 Renal(35;0.156) GGCAAAGCTGTTGCCATTGGC 0.463000 40 0 0 0 1 0 0 NBPF15 284565 broad.mit.edu 37 1 148594439 148594439 + Silent SNP A A G rs146739148 byFrequency TCGA-DE-A4MD-01A-11D-A257-08 TCGA-DE-A4MD-10A-01D-A25A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 128eeeac-803e-489e-bd6d-fa9972824ded 59a49a5a-e5fc-4684-b043-d5992e423463 g.chr1:148594439A>G ENST00000442702.2 + 21 2879 c.1812A>G c.(1810-1812)ttA>ttG p.L604L NBPF15_ENST00000369187.3_Silent_p.L604L NM_001170755.1 NP_001164226.1 Q8N660 NBPFF_HUMAN neuroblastoma breakpoint family, member 15 604 NBPF 6. cytoplasm NS(1)|cervix(1)|endometrium(1)|large_intestine(4)|lung(3)|skin(2) 12 all_hematologic(923;0.032) CTGAAGTCTTACAGGACTCAC 0.463000 7 217 0 0 1 0 0 LRRK2 120892 broad.mit.edu 37 12 40745381 40745381 + Missense_Mutation SNP C C T rs111691891 TCGA-DE-A4MD-01A-11D-A257-08 TCGA-DE-A4MD-10A-01D-A25A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 128eeeac-803e-489e-bd6d-fa9972824ded 59a49a5a-e5fc-4684-b043-d5992e423463 g.chr12:40745381C>T ENST00000298910.7 + 44 6480 c.6422C>T c.(6421-6423)aCg>aTg p.T2141M NM_198578.3 NP_940980.3 Q5S007 LRRK2_HUMAN leucine-rich repeat kinase 2 2141 T -> M (in PARK8). activation of MAPKK activity|determination of adult lifespan|exploration behavior|intracellular distribution of mitochondria|negative regulation of branching morphogenesis of a nerve|negative regulation of dendritic spine morphogenesis|negative regulation of neuroblast proliferation|negative regulation of neuron maturation|neuromuscular junction development|neuron death|peptidyl-serine phosphorylation|positive regulation of autophagy|positive regulation of dopamine receptor signaling pathway|positive regulation of programmed cell death|positive regulation of proteasomal ubiquitin-dependent protein catabolic process|positive regulation of protein phosphorylation|positive regulation of protein ubiquitination|protein autophosphorylation|regulation of kidney size|regulation of locomotion|regulation of membrane potential|response to oxidative stress|small GTPase mediated signal transduction|tangential migration from the subventricular zone to the olfactory bulb external side of mitochondrial outer membrane ATP binding|GTP binding|GTP-dependent protein kinase activity|GTPase activator activity|MAP kinase kinase activity|protein homodimerization activity|tubulin binding p.T2141M(1)|p.T2148M(1) NS(3)|biliary_tract(1)|breast(6)|central_nervous_system(2)|cervix(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(1)|kidney(23)|large_intestine(31)|lung(55)|ovary(15)|pancreas(2)|prostate(4)|skin(4)|stomach(9)|upper_aerodigestive_tract(7)|urinary_tract(2) 181 all_cancers(12;0.00108)|Breast(8;0.218) Lung NSC(34;0.0942)|all_lung(34;0.11) GTCTGTCTGACGAGACGCATT 0.388000 19 33 0 0 1 0 0 OR12D3 81797 broad.mit.edu 37 6 29342445 29342445 + Missense_Mutation SNP C C T TCGA-DE-A4MD-01A-11D-A257-08 TCGA-DE-A4MD-10A-01D-A25A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 128eeeac-803e-489e-bd6d-fa9972824ded 59a49a5a-e5fc-4684-b043-d5992e423463 g.chr6:29342445C>T ENST00000396806.3 - 1 623 c.620G>A c.(619-621)gGa>gAa p.G207E OR5V1_ENST00000377154.1_Intron NM_030959.2 NP_112221.1 Q9UGF7 O12D3_HUMAN olfactory receptor, family 12, subfamily D, member 3 207 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity breast(1)|endometrium(2)|kidney(2)|large_intestine(6)|lung(6)|ovary(2)|skin(1)|upper_aerodigestive_tract(3) 23 AAAGAAAGCTCCCATGGATAT 0.448000 41 45 0 0 1 0 0 ZNF860 344787 broad.mit.edu 37 3 32031962 32031962 + Missense_Mutation SNP A A G rs1808125 by1000genomes TCGA-DE-A4MD-01A-11D-A257-08 TCGA-DE-A4MD-10A-01D-A25A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 128eeeac-803e-489e-bd6d-fa9972824ded 59a49a5a-e5fc-4684-b043-d5992e423463 g.chr3:32031962A>G ENST00000360311.4 + 2 1940 c.1391A>G c.(1390-1392)cAt>cGt p.H464R NM_001137674.2 NP_001131146.2 A6NHJ4 ZN860_HUMAN zinc finger protein 860 464 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding endometrium(3)|lung(4)|ovary(1) 8 AAGACCTTCCATCACAATTCA 0.418000 4 71 0 0 1 0 0 KCNJ9 3765 broad.mit.edu 37 1 160054053 160054053 + Missense_Mutation SNP T T A TCGA-DE-A4MD-01A-11D-A257-08 TCGA-DE-A4MD-10A-01D-A25A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 128eeeac-803e-489e-bd6d-fa9972824ded 59a49a5a-e5fc-4684-b043-d5992e423463 g.chr1:160054053T>A ENST00000368088.3 + 2 475 c.233T>A c.(232-234)aTc>aAc p.I78N NM_004983.2 NP_004974.2 Q92806 IRK9_HUMAN potassium inwardly-rectifying channel, subfamily J, member 9 78 synaptic transmission integral to membrane|plasma membrane G-protein activated inward rectifier potassium channel activity|protein binding biliary_tract(1)|endometrium(3)|large_intestine(3)|liver(1)|lung(5)|ovary(1)|skin(2) 16 all_cancers(52;5.86e-16)|all_hematologic(112;0.093) BRCA - Breast invasive adenocarcinoma(70;0.111) TTCGGCGCCATCTGGTGGCTG 0.662000 33 14 0 0 1 0 0 WHAMMP3 0 broad.mit.edu 37 15 23205108 23205108 + RNA SNP C C T TCGA-DE-A4MD-01A-11D-A257-08 TCGA-DE-A4MD-10A-01D-A25A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 128eeeac-803e-489e-bd6d-fa9972824ded 59a49a5a-e5fc-4684-b043-d5992e423463 g.chr15:23205108C>T ENST00000400153.2 - 0 746 NR_003521.1 GTGGTTGCCACGGTAACTAAT 0.393000 3 16 0 0 1 0 0 LRPPRC 10128 broad.mit.edu 37 2 44145498 44145498 + Missense_Mutation SNP T T C TCGA-DE-A4MD-01A-11D-A257-08 TCGA-DE-A4MD-10A-01D-A25A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 128eeeac-803e-489e-bd6d-fa9972824ded 59a49a5a-e5fc-4684-b043-d5992e423463 g.chr2:44145498T>C ENST00000260665.7 - 28 2993 c.2936A>G c.(2935-2937)aAt>aGt p.N979S NM_133259.3 NP_573566.2 P42704 LPPRC_HUMAN leucine-rich pentatricopeptide repeat containing 979 mitochondrion transport along microtubule|mRNA transport|regulation of transcription, DNA-dependent|transcription, DNA-dependent condensed nuclear chromosome|cytoskeleton|mitochondrial nucleoid|nuclear inner membrane|nuclear outer membrane|nucleoplasm|perinuclear region of cytoplasm beta-tubulin binding|microtubule binding|RNA binding breast(3)|endometrium(3)|kidney(5)|large_intestine(9)|lung(15)|ovary(2)|prostate(2)|skin(2) 41 all_hematologic(82;0.166)|Acute lymphoblastic leukemia(82;0.17) TTGGATTTTATTCCAGACTGC 0.338000 25 31 0 0 1 0 0 FRY 10129 broad.mit.edu 37 13 32802773 32802773 + Missense_Mutation SNP T T C TCGA-DE-A4MD-01A-11D-A257-08 TCGA-DE-A4MD-10A-01D-A25A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 128eeeac-803e-489e-bd6d-fa9972824ded 59a49a5a-e5fc-4684-b043-d5992e423463 g.chr13:32802773T>C ENST00000380250.3 + 40 5883 c.5387T>C c.(5386-5388)aTt>aCt p.I1796T NM_023037.2 NP_075463.2 Q5TBA9 FRY_HUMAN furry homolog (Drosophila) 1796 regulation of transcription, DNA-dependent|transcription, DNA-dependent integral to membrane NS(3)|breast(4)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(31)|lung(50)|ovary(5)|pancreas(1)|prostate(6)|skin(9)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1) 132 Lung SC(185;0.0271) all cancers(112;4.81e-05)|Epithelial(112;0.000656)|OV - Ovarian serous cystadenocarcinoma(117;0.0123)|BRCA - Breast invasive adenocarcinoma(63;0.0295)|GBM - Glioblastoma multiforme(144;0.104) AACAAGCTCATTGAGTTTCTC 0.493000 38 44 0 0 1 0 0 IRF2BP1 26145 broad.mit.edu 37 19 46387368 46387368 + Silent SNP G G A TCGA-DE-A4MD-01A-11D-A257-08 TCGA-DE-A4MD-10A-01D-A25A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 128eeeac-803e-489e-bd6d-fa9972824ded 59a49a5a-e5fc-4684-b043-d5992e423463 g.chr19:46387368G>A ENST00000302165.3 - 1 2008 c.1665C>T c.(1663-1665)gtC>gtT p.V555V NM_015649.1 NP_056464.1 Q8IU81 I2BP1_HUMAN interferon regulatory factor 2 binding protein 1 555 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus cervix(1)|kidney(1)|lung(2) 4 all_neural(266;0.113)|Ovarian(192;0.127) OV - Ovarian serous cystadenocarcinoma(262;0.00442)|GBM - Glioblastoma multiforme(486;0.0402)|Epithelial(262;0.231) CGGAGGAGCCGACCAGCGGGC 0.632000 12 19 0 0 1 0 0 MOK 5891 broad.mit.edu 37 14 102718108 102718108 + Silent SNP T T C TCGA-DE-A4MD-01A-11D-A257-08 TCGA-DE-A4MD-10A-01D-A25A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 128eeeac-803e-489e-bd6d-fa9972824ded 59a49a5a-e5fc-4684-b043-d5992e423463 g.chr14:102718108T>C ENST00000361847.2 - 6 627 c.396A>G c.(394-396)gaA>gaG p.E132E MOK_ENST00000193029.6_5'UTR|MOK_ENST00000524214.1_Silent_p.E102E|MOK_ENST00000522874.1_Silent_p.E132E NM_014226.1 NP_055041.1 Q9UQ07 MOK_HUMAN MOK protein kinase 132 Protein kinase. signal transduction Golgi apparatus ATP binding|cyclin-dependent protein kinase activity|protein binding TTAGTATATTTTCTGGTTTTA 0.308000 7 13 0 0 1 0 0 HUS1B 135458 broad.mit.edu 37 6 656774 656774 + Silent SNP C C T TCGA-DE-A4MD-01A-11D-A257-08 TCGA-DE-A4MD-10A-01D-A25A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 128eeeac-803e-489e-bd6d-fa9972824ded 59a49a5a-e5fc-4684-b043-d5992e423463 g.chr6:656774C>T ENST00000380907.2 - 1 189 c.171G>A c.(169-171)gaG>gaA p.E57E EXOC2_ENST00000230449.4_Intron|EXOC2_ENST00000448181.3_Intron NM_148959.3 NP_683762.2 Q8NHY5 HUS1B_HUMAN HUS1 checkpoint homolog b (S. pombe) 57 endometrium(3)|large_intestine(1)|lung(7) 11 Ovarian(93;0.0733) Breast(5;0.00139)|all_lung(73;0.0691)|all_hematologic(90;0.0895) OV - Ovarian serous cystadenocarcinoma(45;0.041)|BRCA - Breast invasive adenocarcinoma(62;0.0965) CCTGCCGCACCTCGCACCACA 0.692000 9 5 0 0 1 0 0 PCNXL2 80003 broad.mit.edu 37 1 233296140 233296140 + Missense_Mutation SNP C C T TCGA-DE-A4MD-01A-11D-A257-08 TCGA-DE-A4MD-10A-01D-A25A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 128eeeac-803e-489e-bd6d-fa9972824ded 59a49a5a-e5fc-4684-b043-d5992e423463 g.chr1:233296140C>T ENST00000258229.8 - 19 3640 c.3406G>A c.(3406-3408)Gtg>Atg p.V1136M PCNXL2_ENST00000488780.2_Missense_Mutation_p.V269M|PCNXL2_ENST00000520463.1_5'UTR NM_014801.3 NP_055616.3 A6NKB5 PCX2_HUMAN pecanex-like 2 (Drosophila) 1136 integral to membrane NS(1)|autonomic_ganglia(1)|breast(4)|central_nervous_system(1)|cervix(1)|endometrium(16)|kidney(7)|large_intestine(19)|lung(30)|pancreas(1)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1) 86 all_cancers(173;0.0347)|Prostate(94;0.137) ACAAACCCCACGGCTCCAGCC 0.498000 24 39 0 0 1 0 0 TACR3 6870 broad.mit.edu 37 4 104640456 104640456 + Missense_Mutation SNP T T C TCGA-DE-A4MD-01A-11D-A257-08 TCGA-DE-A4MD-10A-01D-A25A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 128eeeac-803e-489e-bd6d-fa9972824ded 59a49a5a-e5fc-4684-b043-d5992e423463 g.chr4:104640456T>C ENST00000304883.2 - 1 517 c.377A>G c.(376-378)aAc>aGc p.N126S NM_001059.2 NP_001050.1 P29371 NK3R_HUMAN tachykinin receptor 3 126 integral to plasma membrane tachykinin receptor activity breast(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(9)|lung(19)|ovary(3)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1) 51 Hepatocellular(203;0.217) UCEC - Uterine corpus endometrioid carcinoma (10;0.22)|OV - Ovarian serous cystadenocarcinoma(123;3.4e-08) GAAAGCCAGGTTCACAAGGAA 0.547000 23 40 0 0 1 0 0 NBPF15 284565 broad.mit.edu 37 1 148594434 148594434 + Missense_Mutation SNP G G A rs143361250 byFrequency TCGA-DE-A4MD-01A-11D-A257-08 TCGA-DE-A4MD-10A-01D-A25A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 128eeeac-803e-489e-bd6d-fa9972824ded 59a49a5a-e5fc-4684-b043-d5992e423463 g.chr1:148594434G>A ENST00000442702.2 + 21 2874 c.1807G>A c.(1807-1809)Gtc>Atc p.V603I NBPF15_ENST00000369187.3_Missense_Mutation_p.V603I NM_001170755.1 NP_001164226.1 Q8N660 NBPFF_HUMAN neuroblastoma breakpoint family, member 15 603 NBPF 6. cytoplasm NS(1)|cervix(1)|endometrium(1)|large_intestine(4)|lung(3)|skin(2) 12 all_hematologic(923;0.032) AGAGCCTGAAGTCTTACAGGA 0.458000 7 207 0 0 1 0 0 MLLT3 4300 broad.mit.edu 37 9 20414343 20414343 + Silent SNP A A G TCGA-DE-A4MD-01A-11D-A257-08 TCGA-DE-A4MD-10A-01D-A25A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 128eeeac-803e-489e-bd6d-fa9972824ded 59a49a5a-e5fc-4684-b043-d5992e423463 g.chr9:20414343A>G ENST00000380338.4 - 5 787 c.501T>C c.(499-501)agT>agC p.S167S MLLT3_ENST00000475957.1_5'UTR|MLLT3_ENST00000429426.2_Silent_p.S164S|MLLT3_ENST00000355930.6_5'UTR NM_004529.2 NP_004520.2 P42568 AF9_HUMAN myeloid/lymphoid or mixed-lineage leukemia (trithorax homolog, Drosophila); translocated to, 3 167 Poly-Ser. regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus protein binding p.S167S(19) central_nervous_system(1)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(6)|lung(24)|ovary(1)|prostate(4)|skin(1)|urinary_tract(7) 66 GBM - Glioblastoma multiforme(3;4.35e-105)|Lung(42;3.48e-06)|LUSC - Lung squamous cell carcinoma(42;7.92e-05) tgctgctgctactgctgctgc 0.532000 T MLL ALL 4 63 0 0 1 0 0 BSN 8927 broad.mit.edu 37 3 49689757 49689757 + Missense_Mutation SNP C C G TCGA-DE-A4MD-01A-11D-A257-08 TCGA-DE-A4MD-10A-01D-A25A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 128eeeac-803e-489e-bd6d-fa9972824ded 59a49a5a-e5fc-4684-b043-d5992e423463 g.chr3:49689757C>G ENST00000296452.4 + 5 2882 c.2768C>G c.(2767-2769)aCc>aGc p.T923S NM_003458.3 NP_003449.2 Q9UPA5 BSN_HUMAN bassoon presynaptic cytomatrix protein 923 synaptic transmission cell junction|cytoplasm|cytoskeleton|nucleus|synaptosome metal ion binding breast(8)|central_nervous_system(2)|cervix(2)|endometrium(16)|kidney(3)|large_intestine(17)|lung(37)|ovary(7)|pancreas(1)|prostate(4)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1) 106 BRCA - Breast invasive adenocarcinoma(193;6.66e-05)|KIRC - Kidney renal clear cell carcinoma(197;0.0032)|Kidney(197;0.00336) GGCAGTGGGACCCTGCAGGGT 0.632000 23 31 0 0 1 0 0 AHNAK2 113146 broad.mit.edu 37 14 105409427 105409427 + Silent SNP G G A TCGA-DE-A4MD-01A-11D-A257-08 TCGA-DE-A4MD-10A-01D-A25A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 128eeeac-803e-489e-bd6d-fa9972824ded 59a49a5a-e5fc-4684-b043-d5992e423463 g.chr14:105409427G>A ENST00000333244.5 - 7 12480 c.12361C>T c.(12361-12363)Ctg>Ttg p.L4121L AHNAK2_ENST00000557457.1_Intron NM_138420.2 NP_612429.2 Q8IVF2 AHNK2_HUMAN AHNAK nucleoprotein 2 4121 nucleus cervix(4)|endometrium(4)|large_intestine(3)|lung(14)|ovary(2)|prostate(2)|skin(1)|stomach(3) 33 all_cancers(154;0.115)|Melanoma(154;0.155)|all_epithelial(191;0.183) all cancers(16;0.000479)|OV - Ovarian serous cystadenocarcinoma(23;0.00659)|Epithelial(46;0.0151)|GBM - Glioblastoma multiforme(11;0.116) TTGTCGGCCAGGGACAGGTCC 0.587000 7 416 0 0 1 0 0 PEX5 5830 broad.mit.edu 37 12 7362742 7362742 + Missense_Mutation SNP G G T TCGA-DE-A4MD-01A-11D-A257-08 TCGA-DE-A4MD-10A-01D-A25A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 128eeeac-803e-489e-bd6d-fa9972824ded 59a49a5a-e5fc-4684-b043-d5992e423463 g.chr12:7362742G>T ENST00000266563.5 + 15 1915 c.1732G>T c.(1732-1734)Ggc>Tgc p.G578C PEX5_ENST00000434354.2_Missense_Mutation_p.G630C|PEX5_ENST00000266564.3_Missense_Mutation_p.G607C|PEX5_ENST00000420616.2_Missense_Mutation_p.G615C|PEX5_ENST00000412720.2_Missense_Mutation_p.G636C|PEX5_ENST00000455147.2_Missense_Mutation_p.G615C NM_001131024.1 NP_001124496.1 P50542 PEX5_HUMAN peroxisomal biogenesis factor 5 615 protein import into peroxisome matrix, translocation|protein targeting to peroxisome|protein tetramerization|protein transport cytosol|peroxisomal matrix|peroxisomal membrane peroxisome matrix targeting signal-1 binding|protein C-terminus binding|protein N-terminus binding breast(1)|endometrium(3)|kidney(1)|large_intestine(5)|lung(8)|ovary(1)|prostate(1)|skin(1) 21 GTCTATGTTAGGCCAGAGCGA 0.622000 49 48 3.76343e-11 4.29163e-11 1 1 0 WBP7 0 broad.mit.edu 37 19 36216141 36216141 + Silent SNP C C T TCGA-DE-A4MD-01A-11D-A257-08 TCGA-DE-A4MD-10A-01D-A25A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 128eeeac-803e-489e-bd6d-fa9972824ded 59a49a5a-e5fc-4684-b043-d5992e423463 g.chr19:36216141C>T ENST00000222270.7 + 11 3549 c.3549C>T c.(3547-3549)aaC>aaT p.N1183N KMT2B_ENST00000607650.1_RNA|WBP7_ENST00000420124.1_Silent_p.N1183N NM_014727.1 NP_055542.1 ATTTAGAGAACGTGTGGCTGA 0.592000 10 10 0 0 1 0 0 GBF1 8729 broad.mit.edu 37 10 104136068 104136068 + Missense_Mutation SNP A A T TCGA-DE-A4MD-01A-11D-A257-08 TCGA-DE-A4MD-10A-01D-A25A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 128eeeac-803e-489e-bd6d-fa9972824ded 59a49a5a-e5fc-4684-b043-d5992e423463 g.chr10:104136068A>T ENST00000369983.3 + 31 4183 c.3923A>T c.(3922-3924)aAt>aTt p.N1308I NM_001199378.1|NM_001199379.1|NM_004193.2 NP_001186307.1|NP_001186308.1|NP_004184.1 Q92538 GBF1_HUMAN golgi brefeldin A resistant guanine nucleotide exchange factor 1 1308 COPI coating of Golgi vesicle|post-Golgi vesicle-mediated transport|regulation of ARF protein signal transduction|retrograde vesicle-mediated transport, Golgi to ER Golgi membrane ARF guanyl-nucleotide exchange factor activity|protein binding NS(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(14)|kidney(8)|large_intestine(15)|lung(19)|ovary(1)|pancreas(1)|prostate(3)|upper_aerodigestive_tract(3)|urinary_tract(2) 71 Colorectal(252;0.0236) Epithelial(162;5.16e-08)|all cancers(201;1.19e-06) TACCATCAGAATGACGTGAGC 0.582000 23 18 0 0 1 0 0 UBBP4 0 broad.mit.edu 37 17 21730916 21730916 + Missense_Mutation SNP G G T rs111245273 by1000genomes TCGA-DE-A4MD-01A-11D-A257-08 TCGA-DE-A4MD-10A-01D-A25A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 128eeeac-803e-489e-bd6d-fa9972824ded 59a49a5a-e5fc-4684-b043-d5992e423463 g.chr17:21730916G>T ENST00000584755.1 + 2 615 c.218G>T c.(217-219)cGg>cTg p.R73L UBBP4_ENST00000578713.1_Missense_Mutation_p.R73L|UBBP4_ENST00000584398.1_Intron|UBBP4_ENST00000583708.1_Intron p.R73L(24) endometrium(9)|kidney(4)|lung(4)|prostate(3)|urinary_tract(4) 24 GTCCTGCGTCGGAGAGGTGGT 0.552000 4 84 0.150653 0.153007 1 1 0 NBPF10 100132406 broad.mit.edu 37 1 145367767 145367767 + Missense_Mutation SNP G G A rs77484671 TCGA-DE-A4MD-01A-11D-A257-08 TCGA-DE-A4MD-10A-01D-A25A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 128eeeac-803e-489e-bd6d-fa9972824ded 59a49a5a-e5fc-4684-b043-d5992e423463 g.chr1:145367767G>A ENST00000342960.5 + 83 10398 c.10363G>A c.(10363-10365)Gaa>Aaa p.E3455K NBPF10_ENST00000369338.1_Intron|NBPF10_ENST00000369339.2_Intron NM_001039703.4 NP_001034792.4 A6NDV3 A6NDV3_HUMAN neuroblastoma breakpoint family, member 10 3455 p.E3455K(5) NS(3)|breast(1)|central_nervous_system(3)|endometrium(12)|kidney(23)|lung(15)|ovary(1)|prostate(7)|skin(6)|urinary_tract(2) 73 all_hematologic(923;0.032) Colorectal(1306;1.36e-07)|KIRC - Kidney renal clear cell carcinoma(1967;0.00258) atcaaagaaggaaagaagaag 0.423000 5 85 0 0 1 0 0 TUBB8P7 0 broad.mit.edu 37 16 90162462 90162462 + RNA SNP A A G TCGA-DE-A4MD-01A-11D-A257-08 TCGA-DE-A4MD-10A-01D-A25A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 128eeeac-803e-489e-bd6d-fa9972824ded 59a49a5a-e5fc-4684-b043-d5992e423463 g.chr16:90162462A>G ENST00000564451.1 + 0 1815 TUBB8P7_ENST00000567960.1_RNA p.T398T(1) ACTGGTACACAGGCGAGGGCA 0.522000 5 111 0 0 1 0 0 ARAP1 116985 broad.mit.edu 37 11 72423246 72423246 + Silent SNP C C G rs149772953 byFrequency TCGA-DE-A4MD-01A-11D-A257-08 TCGA-DE-A4MD-10A-01D-A25A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 128eeeac-803e-489e-bd6d-fa9972824ded 59a49a5a-e5fc-4684-b043-d5992e423463 g.chr11:72423246C>G ENST00000359373.5 - 7 1868 c.1017G>C c.(1015-1017)ccG>ccC p.P339P ARAP1_ENST00000426523.1_Silent_p.P94P|ARAP1_ENST00000393609.3_Silent_p.P339P|ARAP1_ENST00000455638.2_Silent_p.P339P|ARAP1_ENST00000429686.1_Silent_p.P94P|ARAP1_ENST00000334211.8_Silent_p.P94P|ARAP1_ENST00000393605.3_Silent_p.P99P Q96P48 ARAP1_HUMAN ArfGAP with RhoGAP domain, ankyrin repeat and PH domain 1 339 PH 1. actin filament reorganization involved in cell cycle|negative regulation of stress fiber assembly|positive regulation of Cdc42 GTPase activity|positive regulation of filopodium assembly|regulation of ARF GTPase activity|regulation of cell shape|regulation of cellular component movement|small GTPase mediated signal transduction cytosol|Golgi cisterna membrane|plasma membrane ARF GTPase activator activity|phosphatidylinositol-3,4,5-trisphosphate binding|protein binding|Rho GTPase activator activity|zinc ion binding cervix(2)|endometrium(2)|large_intestine(10)|lung(8)|ovary(1)|skin(3)|urinary_tract(1) 27 CTCACCCCTGCGGTGGGTTCT 0.652000 3 20 0 0 1 0 0 UGT1A3 0 broad.mit.edu 37 2 234638622 234638622 + Missense_Mutation SNP A A G TCGA-DE-A4MD-01A-11D-A257-08 TCGA-DE-A4MD-10A-01D-A25A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 128eeeac-803e-489e-bd6d-fa9972824ded 59a49a5a-e5fc-4684-b043-d5992e423463 g.chr2:234638622A>G ENST00000482026.1 + 1 869 c.850A>G c.(850-852)Agg>Ggg p.R284G UGT1A6_ENST00000480628.1_Intron|UGT1A4_ENST00000373409.3_Intron|UGT1A5_ENST00000373414.3_Intron|UGT1A6_ENST00000406651.1_Intron|UGT1A6_ENST00000373424.1_Intron|UGT1A7_ENST00000373426.3_Intron|UGT1A10_ENST00000373445.1_Intron|UGT1A8_ENST00000373450.4_Intron|UGT1A9_ENST00000354728.4_Intron|UGT1A10_ENST00000344644.5_Intron|UGT1A6_ENST00000305139.6_Intron NM_019093.2 NP_061966.1 breast(2)|endometrium(7)|kidney(18)|large_intestine(6)|lung(10)|ovary(1)|skin(1)|urinary_tract(1) 46 Breast(86;0.000765)|all_lung(227;0.00266)|Renal(207;0.00339)|all_hematologic(139;0.0116)|Acute lymphoblastic leukemia(138;0.0327)|Lung NSC(271;0.0456)|Lung SC(224;0.128) Epithelial(121;2.4e-18)|BRCA - Breast invasive adenocarcinoma(100;0.000476)|Lung(119;0.00243)|LUSC - Lung squamous cell carcinoma(224;0.00599) CTGTGCCAACAGGAAGCCACT 0.438000 7 156 0 0 1 0 0 CLDN14 23562 broad.mit.edu 37 21 37833680 37833680 + Missense_Mutation SNP G G A TCGA-DE-A4MD-01A-11D-A257-08 TCGA-DE-A4MD-10A-01D-A25A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 128eeeac-803e-489e-bd6d-fa9972824ded 59a49a5a-e5fc-4684-b043-d5992e423463 g.chr21:37833680G>A ENST00000399137.1 - 3 1180 c.314C>T c.(313-315)aCg>aTg p.T105M AP000695.4_ENST00000428667.1_RNA|CLDN14_ENST00000399135.1_Missense_Mutation_p.T105M|CLDN14_ENST00000399136.1_Missense_Mutation_p.T105M|CLDN14_ENST00000399139.1_Missense_Mutation_p.T105M|CLDN14_ENST00000342108.2_Missense_Mutation_p.T105M|AP000695.6_ENST00000429588.1_RNA NM_144492.2 NP_652763.1 O95500 CLD14_HUMAN claudin 14 105 calcium-independent cell-cell adhesion|protein complex assembly|tight junction assembly endoplasmic reticulum|integral to membrane|tight junction identical protein binding|structural molecule activity endometrium(1)|lung(5)|skin(1) 7 GGCGCAGCGCGTGCACTTCAT 0.687000 35 40 0 0 1 0 0 HSPA8 3312 broad.mit.edu 37 11 122931955 122931955 + Silent SNP G G T TCGA-DE-A4MD-01A-11D-A257-08 TCGA-DE-A4MD-10A-01D-A25A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 128eeeac-803e-489e-bd6d-fa9972824ded 59a49a5a-e5fc-4684-b043-d5992e423463 g.chr11:122931955G>T ENST00000534624.1 - 2 354 c.78C>A c.(76-78)gtC>gtA p.V26V HSPA8_ENST00000453788.2_Silent_p.V26V|HSPA8_ENST00000533540.1_Silent_p.V26V|HSPA8_ENST00000532636.1_Silent_p.V26V|HSPA8_ENST00000227378.3_Silent_p.V26V|HSPA8_ENST00000526110.1_Silent_p.V26V NM_006597.4 NP_006588.1 P11142 HSP7C_HUMAN heat shock 70kDa protein 8 26 cellular membrane organization|interspecies interaction between organisms|mRNA metabolic process|negative regulation of transcription, DNA-dependent|neurotransmitter secretion|post-Golgi vesicle-mediated transport|protein folding|response to unfolded protein|transcription, DNA-dependent cell surface|clathrin sculpted gamma-aminobutyric acid transport vesicle membrane|cytosol|melanosome|plasma membrane|ribonucleoprotein complex ATP binding|ATPase activity, coupled|protein binding breast(1)|central_nervous_system(7)|endometrium(1)|kidney(9)|large_intestine(4)|lung(13)|upper_aerodigestive_tract(1) 36 Breast(109;0.00249)|Lung NSC(97;0.0177)|all_lung(97;0.0179)|Medulloblastoma(222;0.0425)|all_neural(223;0.112) BRCA - Breast invasive adenocarcinoma(274;4.88e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0279) CAATTATCTCGACTTTTCCGT 0.468000 3 32 6.4e-05 6.93333e-05 1 1 0 GUSBP1 0 broad.mit.edu 37 5 21491446 21491446 + RNA SNP G G T rs150396680 by1000genomes TCGA-DE-A4MD-01A-11D-A257-08 TCGA-DE-A4MD-10A-01D-A25A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 128eeeac-803e-489e-bd6d-fa9972824ded 59a49a5a-e5fc-4684-b043-d5992e423463 g.chr5:21491446G>T ENST00000607545.1 + 0 179 NR_027026.1 TGAATTACCAGATCTCCGTCA 0.532000 4 42 1.5739e-10 1.76385e-10 1 1 0 MMP12 4321 broad.mit.edu 37 11 102736506 102736506 + RNA SNP C C T TCGA-DE-A4MD-01A-11D-A257-08 TCGA-DE-A4MD-10A-01D-A25A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 128eeeac-803e-489e-bd6d-fa9972824ded 59a49a5a-e5fc-4684-b043-d5992e423463 g.chr11:102736506C>T ENST00000532855.1 - 0 1301 P39900 MMP12_HUMAN matrix metallopeptidase 12 (macrophage elastase) positive regulation of epithelial cell proliferation involved in wound healing|proteolysis|wound healing, spreading of epidermal cells proteinaceous extracellular matrix calcium ion binding|metalloendopeptidase activity|zinc ion binding autonomic_ganglia(1)|cervix(1)|endometrium(1)|kidney(3)|large_intestine(4)|lung(9)|prostate(5)|skin(1)|upper_aerodigestive_tract(1) 26 all_hematologic(158;0.00092)|Acute lymphoblastic leukemia(157;0.000967) BRCA - Breast invasive adenocarcinoma(274;0.014) Acetohydroxamic Acid(DB00551) TTAAAACTCACCTCCAATACT 0.383000 8 0 0 0 1 0 0 SDHAP1 0 broad.mit.edu 37 3 195717061 195717061 + RNA SNP C C A TCGA-DE-A4MD-01A-11D-A257-08 TCGA-DE-A4MD-10A-01D-A25A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 128eeeac-803e-489e-bd6d-fa9972824ded 59a49a5a-e5fc-4684-b043-d5992e423463 g.chr3:195717061C>A ENST00000427841.1 - 0 89 NR_003264.2 AGGGACTCACCGCCTTGGCCA 0.791000 12 12 0.00136819 0.00145791 1 1 0 ZNF619 285267 broad.mit.edu 37 3 40529513 40529513 + Silent SNP G G A TCGA-DE-A4MD-01A-11D-A257-08 TCGA-DE-A4MD-10A-01D-A25A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 128eeeac-803e-489e-bd6d-fa9972824ded 59a49a5a-e5fc-4684-b043-d5992e423463 g.chr3:40529513G>A ENST00000447116.2 + 6 1939 c.1632G>A c.(1630-1632)ctG>ctA p.L544L ZNF619_ENST00000432264.2_Silent_p.L504L|ZNF619_ENST00000429348.2_Silent_p.L504L|ZNF619_ENST00000520737.1_3'UTR|ZNF619_ENST00000314686.5_Silent_p.L488L|ZNF619_ENST00000456778.1_Silent_p.L460L|ZNF619_ENST00000522736.1_Silent_p.L495L|ZNF619_ENST00000521353.1_Silent_p.L544L NM_001145082.2 NP_001138554.1 E9PCD9 E9PCD9_HUMAN zinc finger protein 619 544 regulation of transcription, DNA-dependent intracellular nucleic acid binding|zinc ion binding breast(1)|cervix(1)|endometrium(2)|large_intestine(7)|lung(6)|ovary(1)|skin(2)|upper_aerodigestive_tract(1) 21 KIRC - Kidney renal clear cell carcinoma(284;0.0525)|Kidney(284;0.0661) TCTCTCCTCTGCCTCCCCAAC 0.547000 34 41 0 0 1 0 0 TCTN2 79867 broad.mit.edu 37 12 124179517 124179517 + Nonsense_Mutation SNP C C T TCGA-DE-A4MD-01A-11D-A257-08 TCGA-DE-A4MD-10A-01D-A25A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 128eeeac-803e-489e-bd6d-fa9972824ded 59a49a5a-e5fc-4684-b043-d5992e423463 g.chr12:124179517C>T ENST00000303372.5 + 10 1356 c.1228C>T c.(1228-1230)Cag>Tag p.Q410* TCTN2_ENST00000426174.2_Nonsense_Mutation_p.Q409* NM_001143850.2|NM_024809.4 NP_001137322.1|NP_079085.2 Q96GX1 TECT2_HUMAN tectonic family member 2 410 cilium assembly|smoothened signaling pathway integral to membrane breast(2)|cervix(2)|endometrium(4)|kidney(1)|large_intestine(4)|lung(12)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1) 30 all_neural(191;0.101)|Medulloblastoma(191;0.163) OV - Ovarian serous cystadenocarcinoma(86;0.000163)|Epithelial(86;0.000502)|all cancers(50;0.00451) TAATGCCCACCAGAAAGGTAA 0.299000 29 27 0 0 1 0 0 FOLH1 2346 broad.mit.edu 37 11 49175929 49175929 + Missense_Mutation SNP C C T TCGA-DE-A4MD-01A-11D-A257-08 TCGA-DE-A4MD-10A-01D-A25A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 128eeeac-803e-489e-bd6d-fa9972824ded 59a49a5a-e5fc-4684-b043-d5992e423463 g.chr11:49175929C>T ENST00000340334.7 - 17 2062 c.1694G>A c.(1693-1695)cGa>cAa p.R565Q FOLH1_ENST00000343844.4_Missense_Mutation_p.R272Q|FOLH1_ENST00000256999.2_Missense_Mutation_p.R580Q|FOLH1_ENST00000533034.1_Missense_Mutation_p.R565Q|FOLH1_ENST00000356696.3_Missense_Mutation_p.R580Q NM_001193471.1|NM_001193472.1 NP_001180400.1|NP_001180401.1 Q04609 FOLH1_HUMAN folate hydrolase (prostate-specific membrane antigen) 1 580 NAALADase. proteolysis cytoplasm|integral to plasma membrane|membrane fraction|nucleus carboxypeptidase activity|dipeptidase activity|metal ion binding|metallopeptidase activity NS(2)|breast(2)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(7)|lung(34)|ovary(1)|skin(1)|upper_aerodigestive_tract(4)|urinary_tract(3) 60 Capromab(DB00089)|L-Glutamic Acid(DB00142) CATCCCTCCTCGAACCTGGGC 0.408000 43 54 0 0 1 0 0 ANKRD36 375248 broad.mit.edu 37 2 97867947 97867947 + Missense_Mutation SNP C C G rs10203570 by1000genomes TCGA-DE-A4MD-01A-11D-A257-08 TCGA-DE-A4MD-10A-01D-A25A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 128eeeac-803e-489e-bd6d-fa9972824ded 59a49a5a-e5fc-4684-b043-d5992e423463 g.chr2:97867947C>G ENST00000420699.2 + 47 3110 c.2866C>G c.(2866-2868)Cag>Gag p.Q956E ANKRD36_ENST00000461153.2_Missense_Mutation_p.Q956E NM_001164315.1 NP_001157787.1 A6QL64 AN36A_HUMAN ankyrin repeat domain 36 956 endometrium(9)|kidney(5)|liver(1)|lung(3)|ovary(2)|prostate(2)|upper_aerodigestive_tract(1) 23 AGTGTCTTCTCAGAAACCACC 0.343000 7 60 0 0 1 0 0 BRAF 673 broad.mit.edu 37 7 140453136 140453136 + Missense_Mutation SNP A A T rs121913377 TCGA-DE-A4MD-01A-11D-A257-08 TCGA-DE-A4MD-10A-01D-A25A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 128eeeac-803e-489e-bd6d-fa9972824ded 59a49a5a-e5fc-4684-b043-d5992e423463 g.chr7:140453136A>T ENST00000288602.6 - 15 1859 c.1799T>A c.(1798-1800)gTg>gAg p.V600E NM_004333.4 NP_004324.2 P15056 BRAF_HUMAN v-raf murine sarcoma viral oncogene homolog B 600 Protein kinase. V -> D (in a melanoma cell line; requires 2 nucleotide substitutions).|V -> E (in sarcoma, colorectal adenocarcinoma, metastatic melanoma, ovarian serous carcinoma, pilocytic astrocytoma; somatic mutation; most common mutation; constitutive and elevated kinase activity; efficiently induces cell transformation; suppression of mutation in melanoma causes growth arrest and promotes apoptosis). activation of MAPKK activity|anti-apoptosis|nerve growth factor receptor signaling pathway|organ morphogenesis|positive regulation of peptidyl-serine phosphorylation|small GTPase mediated signal transduction|synaptic transmission cytosol|nucleus|plasma membrane ATP binding|metal ion binding p.V600E(15453)|p.V600K(252)|p.V600R(44)|p.V600D(16)|p.V600A(12)|p.V600_K601>E(12)|p.V600G(11)|p.T599_R603>I(2)|p.V600Q(2)|p.V600_S605>EK(1)|p.V600_S605>DV(1)|p.V600_S605>D(1)|p.T599_V600insDFGLAT(1) SLC45A3/BRAF(2)|AGTRAP/BRAF(2)|FAM131B_ENST00000443739/BRAF(7)|AKAP9_ENST00000356239/BRAF(10)|KIAA1549/BRAF(703)|FCHSD1/BRAF(2) NS(588)|adrenal_gland(3)|autonomic_ganglia(3)|biliary_tract(29)|bone(7)|breast(21)|central_nervous_system(99)|cervix(6)|endometrium(33)|eye(72)|gastrointestinal_tract_(site_indeterminate)(2)|genital_tract(4)|haematopoietic_and_lymphoid_tissue(436)|kidney(3)|large_intestine(6953)|liver(17)|lung(192)|oesophagus(4)|ovary(275)|pancreas(15)|pituitary(1)|prostate(25)|salivary_gland(1)|skin(6285)|small_intestine(12)|soft_tissue(40)|stomach(11)|testis(7)|thyroid(12220)|upper_aerodigestive_tract(13)|urinary_tract(3) 27380 Melanoma(164;0.00956) Sorafenib(DB00398) TCGAGATTTCACTGTAGCTAG 0.368000 V600D(K029AX_SKIN)|V600D(WM115_SKIN)|V600D(WM2664_SKIN)|V600E(8505C_THYROID)|V600E(A101D_SKIN)|V600E(A2058_SKIN)|V600E(A375_SKIN)|V600E(A673_BONE)|V600E(AM38_CENTRAL_NERVOUS_SYSTEM)|V600E(BCPAP_THYROID)|V600E(BHT101_THYROID)|V600E(BT474_BREAST)|V600E(C32_SKIN)|V600E(CL34_LARGE_INTESTINE)|V600E(COLO205_LARGE_INTESTINE)|V600E(COLO679_SKIN)|V600E(COLO741_SKIN)|V600E(COLO783_SKIN)|V600E(COLO800_SKIN)|V600E(COLO818_SKIN)|V600E(COLO829_SKIN)|V600E(COLO849_SKIN)|V600E(DBTRG05MG_CENTRAL_NERVOUS_SYSTEM)|V600E(DU4475_BREAST)|V600E(ES2_OVARY)|V600E(G361_SKIN)|V600E(GCT_SOFT_TISSUE)|V600E(HS294T_SKIN)|V600E(HS695T_SKIN)|V600E(HS939T_SKIN)|V600E(IGR1_SKIN)|V600E(IGR37_SKIN)|V600E(IGR39_SKIN)|V600E(K029AX_SKIN)|V600E(KG1C_CENTRAL_NERVOUS_SYSTEM)|V600E(LOXIMVI_SKIN)|V600E(MALME3M_SKIN)|V600E(MELHO_SKIN)|V600E(OUMS23_LARGE_INTESTINE)|V600E(RKO_LARGE_INTESTINE)|V600E(RPMI7951_SKIN)|V600E(RVH421_SKIN)|V600E(SH4_SKIN)|V600E(SIGM5_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|V600E(SKHEP1_LIVER)|V600E(SKMEL24_SKIN)|V600E(SKMEL28_SKIN)|V600E(SKMEL5_SKIN)|V600E(SW1417_LARGE_INTESTINE)|V600E(UACC257_SKIN)|V600E(UACC62_SKIN)|V600E(WM793_SKIN)|V600E(WM88_SKIN)|V600E(WM983B_SKIN) 61 """Mis, T, O""" """AKAP9, KIAA1549""" """melanoma, colorectal, papillary thyroid, borderline ov, Non small-cell lung cancer (NSCLC), cholangiocarcinoma, pilocytic astrocytoma""" Cardio-facio-cutaneous syndrome Cardiofaciocutaneous syndrome 32 54 0 0 1 0 0 ABCB6 10058 broad.mit.edu 37 2 220078577 220078577 + Missense_Mutation SNP C C T TCGA-DE-A4MD-01A-11D-A257-08 TCGA-DE-A4MD-10A-01D-A25A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 128eeeac-803e-489e-bd6d-fa9972824ded 59a49a5a-e5fc-4684-b043-d5992e423463 g.chr2:220078577C>T ENST00000265316.3 - 9 1865 c.1549G>A c.(1549-1551)Gca>Aca p.A517T ABCB6_ENST00000439002.2_Missense_Mutation_p.A471T NM_005689.2 NP_005680.1 Q9NP58 ABCB6_HUMAN ATP-binding cassette, sub-family B (MDR/TAP), member 6 517 ABC transmembrane type-1. cadmium ion transmembrane transport|cellular iron ion homeostasis|detoxification of cadmium ion|porphyrin biosynthetic process ATP-binding cassette (ABC) transporter complex|Golgi apparatus|integral to mitochondrial outer membrane|plasma membrane|vacuolar membrane ATP binding|efflux transmembrane transporter activity|heme binding|heme-transporting ATPase activity breast(1)|central_nervous_system(1)|endometrium(7)|kidney(2)|large_intestine(9)|lung(9)|ovary(1)|pancreas(1)|prostate(2)|upper_aerodigestive_tract(1) 34 Renal(207;0.0474) Epithelial(149;1.22e-06)|all cancers(144;0.000201)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942) ACAAAGTATGCGCAAAGCAGG 0.562000 5 397 0 0 1 0 0 USP53 54532 broad.mit.edu 37 4 120169968 120169968 + Silent SNP T T C TCGA-DE-A4MD-01A-11D-A257-08 TCGA-DE-A4MD-10A-01D-A25A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 128eeeac-803e-489e-bd6d-fa9972824ded 59a49a5a-e5fc-4684-b043-d5992e423463 g.chr4:120169968T>C ENST00000450251.1 + 3 847 c.303T>C c.(301-303)gcT>gcC p.A101A USP53_ENST00000274030.6_Silent_p.A101A Q70EK8 UBP53_HUMAN ubiquitin specific peptidase 53 101 ubiquitin-dependent protein catabolic process ubiquitin thiolesterase activity breast(2)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(7)|lung(5)|ovary(1)|pancreas(1)|skin(2)|stomach(1) 27 TAAGGCATGCTCTTGCAGAAA 0.408000 57 57 0 0 1 0 0 CTTNBP2 83992 broad.mit.edu 37 7 117431414 117431414 + Silent SNP T T G TCGA-DE-A4MD-01A-11D-A257-08 TCGA-DE-A4MD-10A-01D-A25A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 128eeeac-803e-489e-bd6d-fa9972824ded 59a49a5a-e5fc-4684-b043-d5992e423463 g.chr7:117431414T>G ENST00000160373.3 - 4 1927 c.1836A>C c.(1834-1836)ccA>ccC p.P612P NM_033427.2 NP_219499.1 Q8WZ74 CTTB2_HUMAN cortactin binding protein 2 612 breast(3)|central_nervous_system(3)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(13)|lung(36)|ovary(4)|prostate(5)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(1) 83 Lung NSC(10;0.0018)|all_lung(10;0.002) LUSC - Lung squamous cell carcinoma(290;0.133) ATGGTTTTGGTGGCAGCTGAG 0.552000 22 19 0 0 1 0 0 HERC2P2 0 broad.mit.edu 37 15 23283320 23283320 + RNA SNP C C A rs149049629 by1000genomes TCGA-DE-A4MD-01A-11D-A257-08 TCGA-DE-A4MD-10A-01D-A25A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 128eeeac-803e-489e-bd6d-fa9972824ded 59a49a5a-e5fc-4684-b043-d5992e423463 g.chr15:23283320C>A ENST00000560464.1 - 0 5097 CAGCGTGTGCCTTTTCCTTCC 0.453000 13 65 4.3838e-07 4.82961e-07 1 1 0 RYR2 6262 broad.mit.edu 37 1 237753135 237753135 + Missense_Mutation SNP G G A TCGA-DE-A4MD-01A-11D-A257-08 TCGA-DE-A4MD-10A-01D-A25A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 128eeeac-803e-489e-bd6d-fa9972824ded 59a49a5a-e5fc-4684-b043-d5992e423463 g.chr1:237753135G>A ENST00000366574.2 + 30 3958 c.3641G>A c.(3640-3642)aGg>aAg p.R1214K RYR2_ENST00000542537.1_Missense_Mutation_p.R1198K|RYR2_ENST00000360064.6_Missense_Mutation_p.R1212K NM_001035.2 NP_001026.2 Q92736 RYR2_HUMAN ryanodine receptor 2 (cardiac) 1214 4 X approximate repeats.|B30.2/SPRY 2. cardiac muscle contraction|detection of calcium ion|induction of apoptosis by ionic changes|regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion|release of sequestered calcium ion into cytosol by sarcoplasmic reticulum|response to caffeine|response to hypoxia|response to redox state calcium channel complex|cytosol|plasma membrane|plasma membrane enriched fraction|sarcoplasmic reticulum membrane calcium ion binding|calmodulin binding|identical protein binding|protein kinase A catalytic subunit binding|protein kinase A regulatory subunit binding|receptor activity|ryanodine-sensitive calcium-release channel activity|suramin binding NS(4)|breast(8)|central_nervous_system(11)|cervix(2)|endometrium(39)|haematopoietic_and_lymphoid_tissue(5)|kidney(17)|large_intestine(83)|liver(4)|lung(353)|ovary(18)|pancreas(5)|prostate(12)|skin(8)|stomach(1)|upper_aerodigestive_tract(12)|urinary_tract(4) 586 Ovarian(103;0.103) all_cancers(173;0.000368)|Melanoma(53;0.0179)|all_epithelial(177;0.0225) OV - Ovarian serous cystadenocarcinoma(106;0.00606) CAAGTGGGTAGGATGAACTTT 0.388000 29 57 0 0 1 0 0 MACF1 23499 broad.mit.edu 37 1 39799059 39799060 + Frame_Shift_Ins INS - - G TCGA-DE-A4MD-01A-11D-A257-08 TCGA-DE-A4MD-10A-01D-A25A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 128eeeac-803e-489e-bd6d-fa9972824ded 59a49a5a-e5fc-4684-b043-d5992e423463 g.chr1:39799059_39799060insG ENST00000564288.1 + 37 7576_7577 c.6799_6800insG c.(6799-6801)ggafs p.G2267fs MACF1_ENST00000372915.3_Frame_Shift_Ins_p.G2272fs|MACF1_ENST00000289893.4_Frame_Shift_Ins_p.G707fs|MACF1_ENST00000545844.1_Intron|MACF1_ENST00000476350.1_Intron|MACF1_ENST00000317713.7_Intron|MACF1_ENST00000361689.2_Intron|MACF1_ENST00000567887.1_Frame_Shift_Ins_p.G2304fs|MACF1_ENST00000539005.1_Intron Q9UPN3 MACF1_HUMAN microtubule-actin crosslinking factor 1 2272 cell cycle arrest|Golgi to plasma membrane protein transport|positive regulation of Wnt receptor signaling pathway|regulation of epithelial cell migration|regulation of focal adhesion assembly|regulation of microtubule-based process|Wnt receptor signaling pathway|wound healing Golgi apparatus|microtubule|ruffle membrane actin filament binding|ATPase activity|calcium ion binding|microtubule binding breast(11)|central_nervous_system(5)|endometrium(18)|haematopoietic_and_lymphoid_tissue(1)|kidney(11)|large_intestine(36)|lung(78)|ovary(12)|prostate(2)|skin(9)|stomach(2)|upper_aerodigestive_tract(8)|urinary_tract(10) 203 Lung NSC(20;5.57e-06)|Ovarian(52;0.00769)|Acute lymphoblastic leukemia(166;0.074) Myeloproliferative disorder(586;0.0255) OV - Ovarian serous cystadenocarcinoma(33;7.78e-19)|Epithelial(16;1.73e-17)|all cancers(16;2.49e-16)|LUSC - Lung squamous cell carcinoma(16;0.00146)|Lung(16;0.00204) AGATAGTGGCAGGGAAATTTTT 0.391 20 108 --- --- --- --- NR1I3 0 broad.mit.edu 37 1 161202999 161203000 + Frame_Shift_Ins INS - - G rs139473535 by1000genomes TCGA-DE-A4MD-01A-11D-A257-08 TCGA-DE-A4MD-10A-01D-A25A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 128eeeac-803e-489e-bd6d-fa9972824ded 59a49a5a-e5fc-4684-b043-d5992e423463 g.chr1:161202999_161203000insG ENST00000367983.4 - 4 661_662 c.367_368insC c.(367-369)ccafs p.P123fs NR1I3_ENST00000428574.2_Frame_Shift_Ins_p.P123fs|NR1I3_ENST00000511944.1_Intron|NR1I3_ENST00000506209.1_Frame_Shift_Ins_p.P94fs|NR1I3_ENST00000367980.2_Frame_Shift_Ins_p.P123fs|NR1I3_ENST00000367985.3_Frame_Shift_Ins_p.P123fs|NR1I3_ENST00000367979.2_Frame_Shift_Ins_p.P123fs|NR1I3_ENST00000367982.4_Frame_Shift_Ins_p.P123fs|NR1I3_ENST00000412844.2_Frame_Shift_Ins_p.P94fs|NR1I3_ENST00000442691.2_Frame_Shift_Ins_p.P123fs|NR1I3_ENST00000367984.4_Frame_Shift_Ins_p.P123fs|NR1I3_ENST00000508740.1_Frame_Shift_Ins_p.P94fs|NR1I3_ENST00000502985.1_Intron|NR1I3_ENST00000515621.1_Frame_Shift_Ins_p.P48fs|NR1I3_ENST00000515452.1_Frame_Shift_Ins_p.P123fs|NR1I3_ENST00000512372.1_Frame_Shift_Ins_p.P94fs|NR1I3_ENST00000511676.1_Frame_Shift_Ins_p.P94fs|NR1I3_ENST00000437437.2_Frame_Shift_Ins_p.P94fs|NR1I3_ENST00000511748.1_Intron|NR1I3_ENST00000367981.3_Frame_Shift_Ins_p.P94fs|NR1I3_ENST00000508387.1_Intron|NR1I3_ENST00000505005.1_Frame_Shift_Ins_p.P123fs|NR1I3_ENST00000504010.1_Frame_Shift_Ins_p.P94fs Q14994 NR1I3_HUMAN nuclear receptor subfamily 1, group I, member 3 123 regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor nucleoplasm androgen receptor activity|protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|thyroid hormone receptor activity|transcription coactivator activity|zinc ion binding endometrium(1)|kidney(1)|large_intestine(4)|lung(7)|ovary(1)|skin(1) 15 all_cancers(52;1.86e-18)|all_hematologic(112;0.093) BRCA - Breast invasive adenocarcinoma(70;0.00376) GCCCATGTGGCGGGTGTGGGCC 0.564 8 361 --- --- --- --- CRIPAK 285464 broad.mit.edu 37 4 1389084 1389085 + Frame_Shift_Del DEL CA CA - rs71299249 TCGA-DE-A4MD-01A-11D-A257-08 TCGA-DE-A4MD-10A-01D-A25A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 128eeeac-803e-489e-bd6d-fa9972824ded 59a49a5a-e5fc-4684-b043-d5992e423463 g.chr4:1389084_1389085delCA ENST00000324803.4 + 1 3745_3746 c.785_786delCA c.(784-786)tfs p.S262fs NM_175918.3 NP_787114.2 Q8N1N5 CRPAK_HUMAN cysteine-rich PAK1 inhibitor 262 ER-nucleus signaling pathway|negative regulation of protein kinase activity|regulation of cytoskeleton organization|response to estrogen stimulus endoplasmic reticulum|nucleus|plasma membrane protein binding NS(3)|breast(1)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(2)|lung(11)|ovary(1)|pancreas(2)|prostate(6)|skin(4)|urinary_tract(1) 35 OV - Ovarian serous cystadenocarcinoma(23;0.0106) CCCGCCTGCTCACACGTGCCCA 0.693 9 472 --- --- --- --- PCDHB12 0 broad.mit.edu 37 5 140589694 140589695 + Frame_Shift_Del DEL AG AG - TCGA-DE-A4MD-01A-11D-A257-08 TCGA-DE-A4MD-10A-01D-A25A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 128eeeac-803e-489e-bd6d-fa9972824ded 59a49a5a-e5fc-4684-b043-d5992e423463 g.chr5:140589694_140589695delAG ENST00000239450.2 + 1 1404_1405 c.1215_1216delAG c.(1213-1218)acagfs p.TE405fs PCDHB12_ENST00000541609.1_Frame_Shift_Del_p.TE68fs NM_018932.3 NP_061755.1 Q9Y5F1 PCDBC_HUMAN 405 Cadherin 4. homophilic cell adhesion|nervous system development integral to plasma membrane calcium ion binding NS(1)|breast(3)|endometrium(10)|large_intestine(17)|lung(38)|ovary(3)|pancreas(1)|prostate(2)|skin(7)|stomach(1) 83 KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339) CTTTGGAAACAGAGAGACCGCT 0.495 7 102 --- --- --- --- LARP1 23367 broad.mit.edu 37 5 154173389 154173390 + Frame_Shift_Ins INS - - C TCGA-DE-A4MD-01A-11D-A257-08 TCGA-DE-A4MD-10A-01D-A25A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 128eeeac-803e-489e-bd6d-fa9972824ded 59a49a5a-e5fc-4684-b043-d5992e423463 g.chr5:154173389_154173390insC ENST00000336314.4 + 6 691_692 c.667_668insC c.(667-669)cccfs p.P223fs NM_015315.3 NP_056130.2 Q6PKG0 LARP1_HUMAN La ribonucleoprotein domain family, member 1 300 protein binding|RNA binding p.T303fs*19(1) breast(1)|endometrium(3)|kidney(2)|large_intestine(10)|lung(9)|ovary(3)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1) 33 Renal(175;0.00488) Medulloblastoma(196;0.0354)|all_neural(177;0.147) KIRC - Kidney renal clear cell carcinoma(527;0.00112) CGTGCCCGTGGCCCCCCCCACC 0.644 7 318 --- --- --- --- KIAA1009 22832 broad.mit.edu 37 6 84896233 84896233 + Frame_Shift_Del DEL A A - TCGA-DE-A4MD-01A-11D-A257-08 TCGA-DE-A4MD-10A-01D-A25A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 128eeeac-803e-489e-bd6d-fa9972824ded 59a49a5a-e5fc-4684-b043-d5992e423463 g.chr6:84896233delA ENST00000403245.3 - 12 1332 c.1218delT c.(1216-1218)ttfs p.F406fs KIAA1009_ENST00000461137.1_5'UTR|KIAA1009_ENST00000257766.4_Frame_Shift_Del_p.F330fs NM_014895.2 NP_055710.2 Q5TB80 QN1_HUMAN KIAA1009 406 cell division|mitosis centrosome|nucleus|plasma membrane|spindle protein binding breast(2)|central_nervous_system(1)|endometrium(6)|kidney(3)|large_intestine(10)|lung(17)|ovary(1)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1) 43 all_cancers(76;1.5e-06)|Acute lymphoblastic leukemia(125;2.69e-07)|all_hematologic(105;0.000151)|all_epithelial(107;0.00258) BRCA - Breast invasive adenocarcinoma(397;0.089) CATTTTTGTCAAAAAAAAGGT 0.358 7 128 --- --- --- --- STAG3L2 0 broad.mit.edu 37 7 74300804 74300804 + RNA DEL A A - TCGA-DE-A4MD-01A-11D-A257-08 TCGA-DE-A4MD-10A-01D-A25A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 128eeeac-803e-489e-bd6d-fa9972824ded 59a49a5a-e5fc-4684-b043-d5992e423463 g.chr7:74300804delA ENST00000423186.1 - 0 499 P0CL84 ST3L2_HUMAN nucleus binding breast(1)|central_nervous_system(1)|large_intestine(1)|lung(1)|pancreas(1) 5 CTTCATACTTAAAAAAAAAAA 0.458 2 4 --- --- --- --- TG 7038 broad.mit.edu 37 8 133935598 133935600 + In_Frame_Del DEL AGA AGA - TCGA-DE-A4MD-01A-11D-A257-08 TCGA-DE-A4MD-10A-01D-A25A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 128eeeac-803e-489e-bd6d-fa9972824ded 59a49a5a-e5fc-4684-b043-d5992e423463 g.chr8:133935598_133935600delAGA ENST00000220616.4 + 22 4584_4586 c.4544_4546delAGA c.(4543-4548)cgg>c p.QR1515del TG_ENST00000377869.1_Intron|TG_ENST00000542445.1_5'UTR NM_003235.4 NP_003226.4 P01266 THYG_HUMAN thyroglobulin 1515 Thyroglobulin type-1 11. hormone biosynthetic process|signal transduction|thyroid gland development|thyroid hormone generation extracellular space hormone activity NS(1)|breast(11)|central_nervous_system(3)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(34)|liver(2)|lung(59)|ovary(9)|pancreas(2)|prostate(6)|skin(7)|stomach(4)|upper_aerodigestive_tract(4)|urinary_tract(8) 168 Ovarian(258;0.00438)|Acute lymphoblastic leukemia(118;0.155) Myeloproliferative disorder(644;0.00878)|Acute lymphoblastic leukemia(644;0.0559)|Breast(495;0.0735) BRCA - Breast invasive adenocarcinoma(115;0.000701) KIRC - Kidney renal clear cell carcinoma(542;0.0546) ACTGACTGTCAGAGGAACGAAGC 0.562 22 44 --- --- --- --- PRB2 653247 broad.mit.edu 37 12 11546506 11546508 + In_Frame_Del DEL TTG TTG - TCGA-DE-A4MD-01A-11D-A257-08 TCGA-DE-A4MD-10A-01D-A25A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 128eeeac-803e-489e-bd6d-fa9972824ded 59a49a5a-e5fc-4684-b043-d5992e423463 g.chr12:11546506_11546508delTTG ENST00000389362.4 - 3 539_541 c.504_506delCAA c.(502-507)aag>aa p.NK168del PRB1_ENST00000546254.1_Intron NM_006248.3 NP_006239.3 proline-rich protein BstNI subfamily 2 NS(1)|breast(1)|endometrium(2)|kidney(3)|large_intestine(3)|lung(14)|pancreas(1)|prostate(5)|skin(4)|stomach(2)|urinary_tract(1) 37 all_cancers(2;0.00558)|Acute lymphoblastic leukemia(2;3.94e-11)|all_hematologic(2;3.6e-09) OV - Ovarian serous cystadenocarcinoma(49;0.185) ACTTCGGGACTTGTTGTCTCCTT 0.596 16 664 --- --- --- --- KRT1 3848 broad.mit.edu 37 12 53069236 53069256 + In_Frame_Del DEL TAGCTGCTACCTCCGGAGCCA TAGCTGCTACCTCCGGAGCCA - rs66529359 by1000genomes TCGA-DE-A4MD-01A-11D-A257-08 TCGA-DE-A4MD-10A-01D-A25A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 128eeeac-803e-489e-bd6d-fa9972824ded 59a49a5a-e5fc-4684-b043-d5992e423463 g.chr12:53069236_53069256delTAGCTGCTACCTCCGGAGCCA ENST00000252244.3 - 9 1714_1734 c.1656_1676delTGGCTCCGGAGGTAGCAGCTA c.(1654-1677)tac>ta p.YGSGGSSY552del NM_006121.3 NP_006112.3 P04264 K2C1_HUMAN keratin 1 552 Gly/Ser-rich.|Tail. complement activation, lectin pathway|epidermis development|fibrinolysis|regulation of angiogenesis|response to oxidative stress plasma membrane protein binding|receptor activity|structural constituent of cytoskeleton|sugar binding p.S557_G563delSSYGSGG(3) breast(2)|central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(7)|lung(11)|ovary(1)|prostate(7)|skin(3) 39 tccggagccgtagctgctacctccggagccatagctgccac 0.688 5 7 --- --- --- --- EP400 57634 broad.mit.edu 37 12 132547093 132547094 + In_Frame_Ins INS - - CAG rs113304321 by1000genomes TCGA-DE-A4MD-01A-11D-A257-08 TCGA-DE-A4MD-10A-01D-A25A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 128eeeac-803e-489e-bd6d-fa9972824ded 59a49a5a-e5fc-4684-b043-d5992e423463 g.chr12:132547093_132547094insCAG ENST00000333577.4 + 48 8398_8399 c.8289_8290insCAG c.(8287-8292)caagca>caCAGagca p.2763_2763Q>HR EP400_ENST00000332482.4_In_Frame_Ins_p.2690_2690Q>HR|EP400_ENST00000389562.2_In_Frame_Ins_p.2726_2726Q>HR|EP400_ENST00000389561.2_In_Frame_Ins_p.2727_2727Q>HR|EP400_ENST00000330386.6_In_Frame_Ins_p.2646_2646Q>HR Q96L91 EP400_HUMAN E1A binding protein p400 2763 Interaction with ZNF42 (By similarity).|Poly-Gln. histone H2A acetylation|histone H4 acetylation|regulation of transcription, DNA-dependent NuA4 histone acetyltransferase complex|nuclear speck ATP binding|DNA binding|helicase activity p.Q2726Q(9) NS(1)|breast(6)|central_nervous_system(10)|cervix(1)|endometrium(21)|kidney(13)|large_intestine(25)|lung(56)|ovary(5)|prostate(8)|skin(6)|stomach(4)|upper_aerodigestive_tract(2)|urinary_tract(3) 161 all_neural(191;0.0982)|Medulloblastoma(191;0.163) all_epithelial(31;0.198) OV - Ovarian serous cystadenocarcinoma(86;3.01e-08)|Epithelial(86;3.43e-07)|all cancers(50;2.01e-06) agcagcaacaacagcagcagca 0.564 8 81 --- --- --- --- TEP1 7011 broad.mit.edu 37 14 20852647 20852647 + Frame_Shift_Del DEL C C - TCGA-DE-A4MD-01A-11D-A257-08 TCGA-DE-A4MD-10A-01D-A25A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 128eeeac-803e-489e-bd6d-fa9972824ded 59a49a5a-e5fc-4684-b043-d5992e423463 g.chr14:20852647delC ENST00000262715.5 - 23 3282 c.3242delG c.(3241-3243)gtfs p.G1081fs TEP1_ENST00000556935.1_Frame_Shift_Del_p.G973fs NM_007110.4 NP_009041.2 Q99973 TEP1_HUMAN telomerase-associated protein 1 1081 telomere maintenance via recombination chromosome, telomeric region|cytoplasm|nuclear matrix|soluble fraction|telomerase holoenzyme complex ATP binding|RNA binding p.V1082fs*47(1) NS(4)|breast(1)|central_nervous_system(4)|endometrium(10)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(9)|lung(48)|ovary(7)|pancreas(1)|prostate(2)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1) 96 all_cancers(95;0.00123) all_lung(585;0.235) Epithelial(56;7.42e-08)|all cancers(55;6.46e-07) GBM - Glioblastoma multiforme(265;0.028)|READ - Rectum adenocarcinoma(17;0.233) AGCTGCCACACCCCCCCACTC 0.587 7 366 --- --- --- --- TRAV24 0 broad.mit.edu 37 14 22573824 22573825 + RNA INS - - A rs112427980 by1000genomes TCGA-DE-A4MD-01A-11D-A257-08 TCGA-DE-A4MD-10A-01D-A25A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 128eeeac-803e-489e-bd6d-fa9972824ded 59a49a5a-e5fc-4684-b043-d5992e423463 g.chr14:22573824_22573825insA ENST00000390453.1 + 0 55 TGACTCTTTTTTAAAAAAACAG 0.450 10 9 --- --- --- --- RP11-252A24.2 0 broad.mit.edu 37 16 74394379 74394380 + RNA INS - - A rs142790741 by1000genomes TCGA-DE-A4MD-01A-11D-A257-08 TCGA-DE-A4MD-10A-01D-A25A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 128eeeac-803e-489e-bd6d-fa9972824ded 59a49a5a-e5fc-4684-b043-d5992e423463 g.chr16:74394379_74394380insA ENST00000429810.2 - 0 435 TAGTCATCCTTAAACAAAATTC 0.347 2 4 --- --- --- ---