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 MUC16 94025 broad.mit.edu 37 19 9087907 9087907 + Missense_Mutation SNP G G T TCGA-HC-A6AQ-01A-11D-A30E-08 TCGA-HC-A6AQ-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 818ac005-a711-4c39-a06c-d103c59def26 91c131c3-f705-4867-8a15-2661ef72a6c1 g.chr19:9087907G>T ENST00000397910.4 - 1 4111 c.3908C>A c.(3907-3909)tCt>tAt p.S1303Y NM_024690.2 NP_078966.2 Q8WXI7 MUC16_HUMAN mucin 16, cell surface associated 1303 Thr-rich. cell adhesion extracellular space|extrinsic to membrane|integral to membrane|plasma membrane protein binding NS(9)|autonomic_ganglia(1)|breast(26)|central_nervous_system(11)|cervix(1)|endometrium(46)|haematopoietic_and_lymphoid_tissue(5)|kidney(35)|large_intestine(91)|liver(1)|lung(278)|ovary(17)|pancreas(2)|prostate(17)|skin(18)|soft_tissue(1)|stomach(8)|upper_aerodigestive_tract(16)|urinary_tract(7) 590 CTCAGGTGAAGACCCAGAAGA 0.493000 5 82 0.014758 0.0155347 1 1 0 GPR158 57512 broad.mit.edu 37 10 25887040 25887040 + Missense_Mutation SNP G G A TCGA-HC-A6AQ-01A-11D-A30E-08 TCGA-HC-A6AQ-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 818ac005-a711-4c39-a06c-d103c59def26 91c131c3-f705-4867-8a15-2661ef72a6c1 g.chr10:25887040G>A ENST00000376351.3 + 11 2844 c.2485G>A c.(2485-2487)Gaa>Aaa p.E829K GPR158_ENST00000490549.1_3'UTR NM_020752.2 NP_065803.2 Q5T848 GP158_HUMAN G protein-coupled receptor 158 829 integral to membrane|plasma membrane G-protein coupled receptor activity breast(5)|cervix(1)|endometrium(9)|kidney(10)|large_intestine(20)|lung(56)|ovary(4)|pancreas(1)|prostate(3)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3) 119 AGACCAAACGGAAGAGTCCAG 0.463000 26 149 0 0 1 0 0 CST7 8530 broad.mit.edu 37 20 24937950 24937950 + Missense_Mutation SNP G G C TCGA-HC-A6AQ-01A-11D-A30E-08 TCGA-HC-A6AQ-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 818ac005-a711-4c39-a06c-d103c59def26 91c131c3-f705-4867-8a15-2661ef72a6c1 g.chr20:24937950G>C ENST00000480798.1 + 2 374 c.98G>C c.(97-99)cGt>cCt p.R33P CST7_ENST00000376835.2_Missense_Mutation_p.R55P NM_003650.3 NP_003641.3 O76096 CYTF_HUMAN cystatin F (leukocystatin) 33 immune response cytoplasm|extracellular region cysteine-type endopeptidase inhibitor activity large_intestine(1)|lung(2)|ovary(1)|upper_aerodigestive_tract(1) 5 CTTAACTCACGTGTGAAGCCA 0.478000 8 137 0 0 1 0 0 RAB3C 115827 broad.mit.edu 37 5 57913641 57913641 + Missense_Mutation SNP G G A TCGA-HC-A6AQ-01A-11D-A30E-08 TCGA-HC-A6AQ-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 818ac005-a711-4c39-a06c-d103c59def26 91c131c3-f705-4867-8a15-2661ef72a6c1 g.chr5:57913641G>A ENST00000282878.4 + 2 365 c.196G>A c.(196-198)Gat>Aat p.D66N NM_138453.2 NP_612462.1 Q96E17 RAB3C_HUMAN RAB3C, member RAS oncogene family 66 protein transport|small GTPase mediated signal transduction plasma membrane GTP binding p.D66N(1) breast(1)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(7)|lung(6)|ovary(1) 21 all_cancers(5;9.93e-10)|all_epithelial(5;1.49e-10)|all_lung(5;8.97e-05)|Lung NSC(5;0.000139)|Prostate(74;0.0664) OV - Ovarian serous cystadenocarcinoma(10;1.8e-34) AGTTGGGATCGATTTCAAAGT 0.408000 5 26 0 0 1 0 0 TMEM59L 25789 broad.mit.edu 37 19 18729079 18729079 + Missense_Mutation SNP C C T TCGA-HC-A6AQ-01A-11D-A30E-08 TCGA-HC-A6AQ-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 818ac005-a711-4c39-a06c-d103c59def26 91c131c3-f705-4867-8a15-2661ef72a6c1 g.chr19:18729079C>T ENST00000600490.1 + 7 964 c.779C>T c.(778-780)tCc>tTc p.S260F TMEM59L_ENST00000262817.3_Missense_Mutation_p.S260F Q9UK28 TM59L_HUMAN transmembrane protein 59-like 260 Golgi membrane|integral to membrane|membrane fraction breast(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(4)|ovary(2)|skin(2) 13 AGTTGCATGTCCCGGTGGGTG 0.647000 3 13 0 0 1 0 0 RBM41 55285 broad.mit.edu 37 X 106358623 106358623 + Missense_Mutation SNP C C A TCGA-HC-A6AQ-01A-11D-A30E-08 TCGA-HC-A6AQ-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 818ac005-a711-4c39-a06c-d103c59def26 91c131c3-f705-4867-8a15-2661ef72a6c1 g.chrX:106358623C>A ENST00000372487.1 - 4 508 c.482G>T c.(481-483)gGa>gTa p.G161V RBM41_ENST00000471079.1_5'UTR|RBM41_ENST00000372479.3_Missense_Mutation_p.G161V|RBM41_ENST00000203616.8_Missense_Mutation_p.G161V NM_001171080.1 NP_001164551.1 Q96IZ5 RBM41_HUMAN RNA binding motif protein 41 161 nucleotide binding|RNA binding breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(5)|ovary(1)|upper_aerodigestive_tract(1) 13 ACGATCAGCTCCCTGAAATAA 0.438000 14 28 6.31663e-08 7.219e-08 1 1 0 MAP2K4 6416 broad.mit.edu 37 17 12032509 12032509 + Silent SNP T T C TCGA-HC-A6AQ-01A-11D-A30E-08 TCGA-HC-A6AQ-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 818ac005-a711-4c39-a06c-d103c59def26 91c131c3-f705-4867-8a15-2661ef72a6c1 g.chr17:12032509T>C ENST00000415385.3 + 10 1031 c.978T>C c.(976-978)gaT>gaC p.D326D MAP2K4_ENST00000353533.5_Silent_p.D315D P45985 MP2K4_HUMAN mitogen-activated protein kinase kinase 4 315 Protein kinase. cellular response to mechanical stimulus|innate immune response|JNK cascade|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|stress-activated MAPK cascade|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway cytosol ATP binding|JUN kinase kinase activity|protein binding|protein serine/threonine kinase activity|protein tyrosine kinase activity p.0?(10)|p.?(1) NS(1)|biliary_tract(2)|breast(22)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(26)|lung(15)|ovary(8)|pancreas(11)|skin(3)|stomach(2)|testis(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 100 all_cancers(5;0.0413)|Breast(5;0.000625)|all_epithelial(5;0.00978)|all_lung(20;0.0449)|Lung NSC(33;0.163) Epithelial(2;4.12e-09)|all cancers(2;6.86e-07)|BRCA - Breast invasive adenocarcinoma(2;8.74e-07)|Colorectal(4;5.32e-05)|COAD - Colon adenocarcinoma(4;0.0039)|READ - Rectum adenocarcinoma(10;0.0681) GTGTATTTGATCAACTAACAC 0.423000 """D, Mis, N""" """pancreatic, breast, colorectal""" 3 29 0 0 1 0 0 FHOD1 29109 broad.mit.edu 37 16 67264568 67264568 + Missense_Mutation SNP A A G TCGA-HC-A6AQ-01A-11D-A30E-08 TCGA-HC-A6AQ-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 818ac005-a711-4c39-a06c-d103c59def26 91c131c3-f705-4867-8a15-2661ef72a6c1 g.chr16:67264568A>G ENST00000258201.4 - 18 3041 c.2794T>C c.(2794-2796)Ttc>Ctc p.F932L FHOD1_ENST00000567687.1_Missense_Mutation_p.F511L NM_013241.2 NP_037373.2 Q9Y613 FHOD1_HUMAN formin homology 2 domain containing 1 932 FH2. actin cytoskeleton organization cytoplasm|cytoskeleton|nucleus actin binding breast(4)|endometrium(3)|kidney(3)|large_intestine(5)|lung(7)|ovary(3)|prostate(1)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(2) 34 Ovarian(137;0.0563) OV - Ovarian serous cystadenocarcinoma(108;0.000691)|Epithelial(162;0.00462)|all cancers(182;0.0434) TGGTCCAGGAAGTGGGTGAGG 0.682000 19 109 0 0 1 0 0 KIDINS220 57498 broad.mit.edu 37 2 8919107 8919107 + Missense_Mutation SNP T T A TCGA-HC-A6AQ-01A-11D-A30E-08 TCGA-HC-A6AQ-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 818ac005-a711-4c39-a06c-d103c59def26 91c131c3-f705-4867-8a15-2661ef72a6c1 g.chr2:8919107T>A ENST00000256707.3 - 19 2714 c.2533A>T c.(2533-2535)Aat>Tat p.N845Y KIDINS220_ENST00000418530.1_Missense_Mutation_p.N803Y|KIDINS220_ENST00000473731.1_Missense_Mutation_p.N845Y|KIDINS220_ENST00000319688.5_Missense_Mutation_p.N846Y|KIDINS220_ENST00000427284.1_Missense_Mutation_p.N845Y NM_020738.2 NP_065789.1 Q9ULH0 KDIS_HUMAN kinase D-interacting substrate, 220kDa 845 KAP NTPase. activation of MAPKK activity|nerve growth factor receptor signaling pathway cytosol|integral to membrane NS(1)|breast(1)|central_nervous_system(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(11)|lung(25)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(2) 60 all_hematologic(175;0.127)|Acute lymphoblastic leukemia(172;0.155) CCACGACTATTAAGGAACACA 0.418000 9 88 0 0 1 0 0 TUBA3D 113457 broad.mit.edu 37 2 132237644 132237644 + Silent SNP G G A TCGA-HC-A6AQ-01A-11D-A30E-08 TCGA-HC-A6AQ-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 818ac005-a711-4c39-a06c-d103c59def26 91c131c3-f705-4867-8a15-2661ef72a6c1 g.chr2:132237644G>A ENST00000321253.6 + 4 485 c.378G>A c.(376-378)gcG>gcA p.A126A TUBA3D_ENST00000409047.2_3'UTR NM_080386.3 NP_525125.2 Q13748 TBA3C_HUMAN tubulin, alpha 3d 126 'de novo' posttranslational protein folding|microtubule-based movement|protein polymerization cytoplasm|microtubule GTP binding|GTPase activity|protein binding|structural molecule activity breast(2)|endometrium(1)|kidney(1)|large_intestine(3)|lung(18)|prostate(2)|skin(2)|upper_aerodigestive_tract(3) 32 BRCA - Breast invasive adenocarcinoma(221;0.13) TCTCTCAGGCGGATCTGTGCA 0.577000 4 57 0 0 1 0 0 SPATA31D1 389763 broad.mit.edu 37 9 84605947 84605947 + Missense_Mutation SNP C C T TCGA-HC-A6AQ-01A-11D-A30E-08 TCGA-HC-A6AQ-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 818ac005-a711-4c39-a06c-d103c59def26 91c131c3-f705-4867-8a15-2661ef72a6c1 g.chr9:84605947C>T ENST00000344803.2 + 4 609 c.562C>T c.(562-564)Cct>Tct p.P188S NM_001001670.2 NP_001001670.1 SPATA31 subfamily D, member 1 AATACTGTCCCCTCGGCCTAA 0.557000 4 83 0 0 1 0 0 LAMA3 3909 broad.mit.edu 37 18 21519263 21519263 + Missense_Mutation SNP C C T TCGA-HC-A6AQ-01A-11D-A30E-08 TCGA-HC-A6AQ-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 818ac005-a711-4c39-a06c-d103c59def26 91c131c3-f705-4867-8a15-2661ef72a6c1 g.chr18:21519263C>T ENST00000313654.9 + 68 9180 c.8939C>T c.(8938-8940)aCc>aTc p.T2980I LAMA3_ENST00000269217.6_Missense_Mutation_p.T1371I|LAMA3_ENST00000399516.3_Missense_Mutation_p.T2924I|LAMA3_ENST00000587184.1_Missense_Mutation_p.T1315I|LAMA3_ENST00000588770.1_3'UTR NM_198129.1 NP_937762.1 Q16787 LAMA3_HUMAN laminin, alpha 3 2980 cell adhesion|epidermis development|hemidesmosome assembly|regulation of cell adhesion|regulation of cell migration|regulation of embryonic development laminin-1 complex receptor binding|structural molecule activity NS(2)|breast(4)|central_nervous_system(3)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(24)|lung(54)|ovary(8)|prostate(6)|skin(7)|urinary_tract(4) 128 all_cancers(21;7.81e-05)|all_epithelial(16;4.45e-07)|Lung NSC(20;0.00156)|all_lung(20;0.00508)|Colorectal(14;0.0202)|Ovarian(20;0.17) Alteplase(DB00009)|Anistreplase(DB00029)|Reteplase(DB00015)|Tenecteplase(DB00031) CTTCCCAAGACCCAGGCCAAT 0.537000 17 110 0 0 1 0 0 MCHR1 0 broad.mit.edu 37 22 41075565 41075565 + Missense_Mutation SNP G G A TCGA-HC-A6AQ-01A-11D-A30E-08 TCGA-HC-A6AQ-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 818ac005-a711-4c39-a06c-d103c59def26 91c131c3-f705-4867-8a15-2661ef72a6c1 g.chr22:41075565G>A ENST00000249016.4 + 1 812 c.116G>A c.(115-117)gGa>gAa p.G39E MCHR1_ENST00000381433.2_Missense_Mutation_p.G39E|MCHR1_ENST00000498400.1_Intron NM_005297.3 NP_005288.3 Q99705 MCHR1_HUMAN melanin-concentrating hormone receptor 1 39 elevation of cytosolic calcium ion concentration|feeding behavior|generation of precursor metabolites and energy|inhibition of adenylate cyclase activity by G-protein signaling pathway integral to plasma membrane|nonmotile primary cilium neuropeptide receptor activity endometrium(5)|large_intestine(7)|lung(6)|pancreas(1)|urinary_tract(1) 20 TGCGCTCCGGGACAAGGTGGC 0.692000 3 37 0 0 1 0 0 KCNB2 9312 broad.mit.edu 37 8 73849324 73849324 + Missense_Mutation SNP A A C TCGA-HC-A6AQ-01A-11D-A30E-08 TCGA-HC-A6AQ-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 818ac005-a711-4c39-a06c-d103c59def26 91c131c3-f705-4867-8a15-2661ef72a6c1 g.chr8:73849324A>C ENST00000523207.1 + 3 2322 c.1734A>C c.(1732-1734)gaA>gaC p.E578D NM_004770.2 NP_004761.2 Q92953 KCNB2_HUMAN potassium voltage-gated channel, Shab-related subfamily, member 2 578 regulation of smooth muscle contraction voltage-gated potassium channel complex delayed rectifier potassium channel activity|protein binding NS(1)|breast(4)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(20)|liver(2)|lung(31)|ovary(2)|pancreas(3)|prostate(2)|skin(8)|upper_aerodigestive_tract(4)|urinary_tract(1) 85 Breast(64;0.137) Epithelial(68;0.105) AAATGGAAGAAGTGGTGTGTC 0.527000 6 49 0 0 1 0 0 KBTBD12 166348 broad.mit.edu 37 3 127646682 127646682 + Silent SNP T T C TCGA-HC-A6AQ-01A-11D-A30E-08 TCGA-HC-A6AQ-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 818ac005-a711-4c39-a06c-d103c59def26 91c131c3-f705-4867-8a15-2661ef72a6c1 g.chr3:127646682T>C ENST00000405109.1 + 3 1613 c.1146T>C c.(1144-1146)agT>agC p.S382S KBTBD12_ENST00000407609.3_5'UTR|KBTBD12_ENST00000405256.1_Silent_p.S382S|KBTBD12_ENST00000492025.1_Intron|KBTBD12_ENST00000343941.4_Intron Q3ZCT8 KBTBC_HUMAN kelch repeat and BTB (POZ) domain containing 12 382 endometrium(1)|large_intestine(6)|lung(5)|ovary(1) 13 CTCTGGGCAGTATTCATAATG 0.368000 8 86 0 0 1 0 0 PCDH8 5100 broad.mit.edu 37 13 53419058 53419058 + Silent SNP C C T TCGA-HC-A6AQ-01A-11D-A30E-08 TCGA-HC-A6AQ-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 818ac005-a711-4c39-a06c-d103c59def26 91c131c3-f705-4867-8a15-2661ef72a6c1 g.chr13:53419058C>T ENST00000377942.3 - 3 3053 c.2850G>A c.(2848-2850)gcG>gcA p.A950A PCDH8_ENST00000338862.4_Silent_p.A853A NM_002590.3 NP_002581.2 O95206 PCDH8_HUMAN protocadherin 8 950 cell-cell signaling|homophilic cell adhesion cell junction|dendrite|integral to plasma membrane|postsynaptic membrane|presynaptic membrane calcium ion binding breast(1)|central_nervous_system(2)|endometrium(2)|large_intestine(5)|lung(23)|ovary(1)|skin(1)|urinary_tract(1) 36 Lung NSC(96;0.0019)|Breast(56;0.00235)|Hepatocellular(98;0.065)|Prostate(109;0.0771)|all_neural(104;0.173) GBM - Glioblastoma multiforme(99;2.19e-08) CAGCGGTGCACGCCCACAGTC 0.552000 6 36 0 0 1 0 0 COLEC10 10584 broad.mit.edu 37 8 120114623 120114623 + Missense_Mutation SNP G G T TCGA-HC-A6AQ-01A-11D-A30E-08 TCGA-HC-A6AQ-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 818ac005-a711-4c39-a06c-d103c59def26 91c131c3-f705-4867-8a15-2661ef72a6c1 g.chr8:120114623G>T ENST00000332843.2 + 4 370 c.329G>T c.(328-330)gGa>gTa p.G110V COLEC10_ENST00000521788.1_3'UTR NM_006438.3 NP_006429.2 Q9Y6Z7 COL10_HUMAN collectin sub-family member 10 (C-type lectin) 110 Collagen-like. collagen|cytoplasm mannose binding endometrium(2)|kidney(3)|large_intestine(3)|lung(8)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1) 21 all_cancers(13;4.13e-26)|Lung NSC(37;1.36e-07)|Ovarian(258;0.018)|Hepatocellular(40;0.234) STAD - Stomach adenocarcinoma(47;0.00113) GGAATACCTGGAGAAAAAGGC 0.289000 10 23 1.58986e-06 1.76652e-06 1 1 0 CGB7 94027 broad.mit.edu 37 19 49558205 49558205 + Missense_Mutation SNP G G A TCGA-HC-A6AQ-01A-11D-A30E-08 TCGA-HC-A6AQ-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 818ac005-a711-4c39-a06c-d103c59def26 91c131c3-f705-4867-8a15-2661ef72a6c1 g.chr19:49558205G>A ENST00000597853.1 - 4 2947 c.76C>T c.(76-78)Cgg>Tgg p.R26W CGB7_ENST00000377280.3_Missense_Mutation_p.R26W|CGB7_ENST00000596965.1_Missense_Mutation_p.R26W|CGB7_ENST00000356213.4_Missense_Mutation_p.R24W chorionic gonadotropin, beta polypeptide 7 lung(3)|urinary_tract(2) 5 all_epithelial(76;9.62e-07)|all_lung(116;1.7e-06)|Lung NSC(112;3.55e-06)|all_neural(266;0.0189)|Ovarian(192;0.0261) all cancers(93;0.000371)|OV - Ovarian serous cystadenocarcinoma(262;0.000503)|GBM - Glioblastoma multiforme(486;0.00518)|Epithelial(262;0.0427) CACCGTGGCCGAAGCATCTCC 0.652000 19 57 0 0 1 0 0 BTN1A1 696 broad.mit.edu 37 6 26509216 26509216 + Silent SNP C C T rs141533174 byFrequency TCGA-HC-A6AQ-01A-11D-A30E-08 TCGA-HC-A6AQ-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 818ac005-a711-4c39-a06c-d103c59def26 91c131c3-f705-4867-8a15-2661ef72a6c1 g.chr6:26509216C>T ENST00000244513.6 + 7 1461 c.1395C>T c.(1393-1395)agC>agT p.S465S NM_001732.2 NP_001723.2 Q13410 BT1A1_HUMAN butyrophilin, subfamily 1, member A1 465 B30.2/SPRY. extracellular region|integral to plasma membrane receptor activity endometrium(1)|kidney(1)|large_intestine(5)|lung(15)|ovary(1)|skin(1)|soft_tissue(1)|urinary_tract(1) 26 TATGGTCTAGCGGTAAAAAGC 0.493000 4 62 0 0 1 0 0 UTP20 27340 broad.mit.edu 37 12 101766716 101766716 + Silent SNP T T C TCGA-HC-A6AQ-01A-11D-A30E-08 TCGA-HC-A6AQ-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 818ac005-a711-4c39-a06c-d103c59def26 91c131c3-f705-4867-8a15-2661ef72a6c1 g.chr12:101766716T>C ENST00000261637.4 + 52 7027 c.6853T>C c.(6853-6855)Ttg>Ctg p.L2285L NM_014503.2 NP_055318.2 O75691 UTP20_HUMAN UTP20, small subunit (SSU) processome component, homolog (yeast) 2285 endonucleolytic cleavage in 5'-ETS of tricistronic rRNA transcript (SSU-rRNA, 5.8S rRNA, LSU-rRNA)|endonucleolytic cleavage in ITS1 to separate SSU-rRNA from 5.8S rRNA and LSU-rRNA from tricistronic rRNA transcript (SSU-rRNA, 5.8S rRNA, LSU-rRNA)|endonucleolytic cleavage to generate mature 5'-end of SSU-rRNA from (SSU-rRNA, 5.8S rRNA, LSU-rRNA)|negative regulation of cell proliferation 90S preribosome|cytoplasm|nucleolus|nucleoplasm|preribosome, small subunit precursor|small-subunit processome protein binding NS(3)|biliary_tract(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(9)|kidney(2)|large_intestine(26)|lung(30)|ovary(2)|prostate(3)|skin(1)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(2) 88 GAGACCAAACTTGGAATTCAT 0.408000 4 33 0 0 1 0 0 TRPC7 57113 broad.mit.edu 37 5 135561808 135561808 + Missense_Mutation SNP T T G TCGA-HC-A6AQ-01A-11D-A30E-08 TCGA-HC-A6AQ-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 818ac005-a711-4c39-a06c-d103c59def26 91c131c3-f705-4867-8a15-2661ef72a6c1 g.chr5:135561808T>G ENST00000513104.1 - 9 2458 c.2176A>C c.(2176-2178)Aag>Cag p.K726Q TRPC7_ENST00000426057.2_Missense_Mutation_p.K610Q|TRPC7_ENST00000355180.3_Missense_Mutation_p.K665Q NM_020389.2 NP_065122.1 Q9HCX4 TRPC7_HUMAN transient receptor potential cation channel, subfamily C, member 7 726 axon guidance|platelet activation integral to membrane|plasma membrane calcium channel activity|protein binding NS(1)|breast(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(12)|lung(18)|ovary(1)|prostate(3) 46 KIRC - Kidney renal clear cell carcinoma(527;0.0101)|Kidney(363;0.0233) AGGCACATCTTGATTCTCATT 0.378000 3 8 0 0 1 0 0 CPEB3 22849 broad.mit.edu 37 10 93999536 93999536 + Missense_Mutation SNP C C A TCGA-HC-A6AQ-01A-11D-A30E-08 TCGA-HC-A6AQ-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 818ac005-a711-4c39-a06c-d103c59def26 91c131c3-f705-4867-8a15-2661ef72a6c1 g.chr10:93999536C>A ENST00000412050.4 - 2 660 c.572G>T c.(571-573)cGc>cTc p.R191L CPEB3_ENST00000265997.4_Missense_Mutation_p.R191L NM_001178137.1 NP_001171608.1 Q8NE35 CPEB3_HUMAN cytoplasmic polyadenylation element binding protein 3 191 Ala-rich.|Pro-rich. nucleotide binding|RNA binding breast(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(5)|lung(5)|skin(2)|upper_aerodigestive_tract(2) 18 Colorectal(252;0.0869) GGCGGGTGAgcggcgctgctg 0.771000 2 1 0.0784 0.0804103 1 1 0 ME1 4199 broad.mit.edu 37 6 83963441 83963441 + Missense_Mutation SNP G G A TCGA-HC-A6AQ-01A-11D-A30E-08 TCGA-HC-A6AQ-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 818ac005-a711-4c39-a06c-d103c59def26 91c131c3-f705-4867-8a15-2661ef72a6c1 g.chr6:83963441G>A ENST00000369705.3 - 7 837 c.721C>T c.(721-723)Ctt>Ttt p.L241F ME1_ENST00000543031.1_Missense_Mutation_p.L166F|ME1_ENST00000541327.1_Missense_Mutation_p.L75F NM_002395.4 NP_002386.1 P48163 MAOX_HUMAN malic enzyme 1, NADP(+)-dependent, cytosolic 241 carbohydrate metabolic process|cellular lipid metabolic process|malate metabolic process|NADP biosynthetic process|response to carbohydrate stimulus|response to hormone stimulus cytosol ADP binding|electron carrier activity|malate dehydrogenase (oxaloacetate-decarboxylating) (NADP+) activity|manganese ion binding|NAD binding|NADP binding NS(2)|breast(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(7)|ovary(2)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(1) 36 all_cancers(76;1.28e-06)|Acute lymphoblastic leukemia(125;5.03e-07)|all_hematologic(105;0.000238)|all_epithelial(107;0.00218) BRCA - Breast invasive adenocarcinoma(397;0.0641) NADH(DB00157) AACTGAATAAGGCAATTCATG 0.308000 4 35 0 0 1 0 0 POLQ 10721 broad.mit.edu 37 3 121208992 121208992 + Missense_Mutation SNP C C G TCGA-HC-A6AQ-01A-11D-A30E-08 TCGA-HC-A6AQ-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 818ac005-a711-4c39-a06c-d103c59def26 91c131c3-f705-4867-8a15-2661ef72a6c1 g.chr3:121208992C>G ENST00000264233.5 - 16 2914 c.2786G>C c.(2785-2787)aGt>aCt p.S929T NM_199420.3 NP_955452.3 O75417 DPOLQ_HUMAN polymerase (DNA directed), theta 929 DNA repair|DNA replication nucleoplasm ATP binding|ATP-dependent helicase activity|damaged DNA binding|DNA-directed DNA polymerase activity|single-stranded DNA-dependent ATPase activity NS(2)|breast(7)|central_nervous_system(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(16)|lung(55)|ovary(5)|prostate(3)|skin(4)|stomach(2)|upper_aerodigestive_tract(4)|urinary_tract(2) 120 GBM - Glioblastoma multiforme(114;0.0915) TTTATAAGAACTCTTAGTTTG 0.313000 DNA polymerases (catalytic subunits) 3 29 0 0 1 0 0 NRDE2 55051 broad.mit.edu 37 14 90755415 90755415 + Silent SNP C C T TCGA-HC-A6AQ-01A-11D-A30E-08 TCGA-HC-A6AQ-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 818ac005-a711-4c39-a06c-d103c59def26 91c131c3-f705-4867-8a15-2661ef72a6c1 g.chr14:90755415C>T ENST00000354366.3 - 11 2536 c.2304G>A c.(2302-2304)aaG>aaA p.K768K NRDE2_ENST00000357904.3_Silent_p.K537K NM_017970.3 NP_060440.2 NRDE-2, necessary for RNA interference, domain containing TAAGGAGATTCTTGGCTAGTT 0.438000 8 143 0 0 1 0 0 KCNS2 3788 broad.mit.edu 37 8 99441254 99441254 + Silent SNP C C T TCGA-HC-A6AQ-01A-11D-A30E-08 TCGA-HC-A6AQ-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 818ac005-a711-4c39-a06c-d103c59def26 91c131c3-f705-4867-8a15-2661ef72a6c1 g.chr8:99441254C>T ENST00000287042.4 + 2 1397 c.1047C>T c.(1045-1047)acC>acT p.T349T KCNS2_ENST00000521839.1_Silent_p.T349T NM_020697.2 NP_065748.1 Q9ULS6 KCNS2_HUMAN potassium voltage-gated channel, delayed-rectifier, subfamily S, member 2 349 voltage-gated potassium channel complex voltage-gated potassium channel activity p.T349T(1) autonomic_ganglia(1)|breast(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(6)|lung(11)|ovary(1)|prostate(1)|skin(1)|urinary_tract(2) 31 Breast(36;2.4e-06) OV - Ovarian serous cystadenocarcinoma(57;0.0448) TGGCCTACACCATTGAAAAGG 0.582000 4 47 0 0 1 0 0 PANX2 56666 broad.mit.edu 37 22 50615615 50615615 + Silent SNP G G T TCGA-HC-A6AQ-01A-11D-A30E-08 TCGA-HC-A6AQ-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 818ac005-a711-4c39-a06c-d103c59def26 91c131c3-f705-4867-8a15-2661ef72a6c1 g.chr22:50615615G>T ENST00000395842.2 + 2 474 c.474G>T c.(472-474)ctG>ctT p.L158L PANX2_ENST00000159647.5_Silent_p.L158L NM_052839.3 NP_443071.2 Q96RD6 PANX2_HUMAN pannexin 2 158 protein hexamerization|synaptic transmission gap junction|integral to membrane gap junction hemi-channel activity|ion channel activity breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(1)|lung(1)|skin(1) 7 all_cancers(38;1.14e-10)|all_epithelial(38;2.12e-09)|all_lung(38;7.01e-05)|Breast(42;0.000523)|Lung NSC(38;0.0018)|Ovarian(80;0.0365)|Lung SC(80;0.113) LUAD - Lung adenocarcinoma(64;0.105) ACTTCCTGCTGCAGGAGATCG 0.677000 4 17 0.150653 0.150653 1 1 0 PCIF1 63935 broad.mit.edu 37 20 44576000 44576000 + Silent SNP C C T TCGA-HC-A6AQ-01A-11D-A30E-08 TCGA-HC-A6AQ-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 818ac005-a711-4c39-a06c-d103c59def26 91c131c3-f705-4867-8a15-2661ef72a6c1 g.chr20:44576000C>T ENST00000372409.3 + 16 2170 c.1806C>T c.(1804-1806)agC>agT p.S602S PCIF1_ENST00000479348.1_3'UTR NM_022104.3 NP_071387.1 Q9H4Z3 PCIF1_HUMAN PDX1 C-terminal inhibiting factor 1 602 nucleus central_nervous_system(1)|endometrium(3)|large_intestine(5)|lung(4)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(2) 20 TGGAGCAGAGCCGCTTCAAAC 0.617000 3 30 0 0 1 0 0 TRANK1 9881 broad.mit.edu 37 3 36874403 36874403 + Missense_Mutation SNP G G A TCGA-HC-A6AQ-01A-11D-A30E-08 TCGA-HC-A6AQ-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 818ac005-a711-4c39-a06c-d103c59def26 91c131c3-f705-4867-8a15-2661ef72a6c1 g.chr3:36874403G>A ENST00000429976.2 - 21 6786 c.6539C>T c.(6538-6540)tCg>tTg p.S2180L TRANK1_ENST00000428977.2_Missense_Mutation_p.S1630L|TRANK1_ENST00000301807.6_Missense_Mutation_p.S1630L O15050 TRNK1_HUMAN tetratricopeptide repeat and ankyrin repeat containing 1 2180 DNA repair ATP binding|ATP-dependent DNA helicase activity|DNA binding NS(2)|autonomic_ganglia(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(18)|lung(20)|ovary(1)|prostate(3)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(2) 73 GTTCATTTTCGACTGAACTAA 0.383000 4 13 0 0 1 0 0 ZNF106 64397 broad.mit.edu 37 15 42742890 42742890 + Missense_Mutation SNP G G A TCGA-HC-A6AQ-01A-11D-A30E-08 TCGA-HC-A6AQ-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 818ac005-a711-4c39-a06c-d103c59def26 91c131c3-f705-4867-8a15-2661ef72a6c1 g.chr15:42742890G>A ENST00000263805.4 - 2 1837 c.1511C>T c.(1510-1512)tCc>tTc p.S504F ZNF106_ENST00000565611.1_Intron|ZNF106_ENST00000565380.1_Intron NM_022473.1 NP_071918.1 zinc finger protein 106 ACGCAGTTTGGATATGTAAGG 0.358000 17 84 0 0 1 0 0 BAGE2 85319 broad.mit.edu 37 21 11038898 11038898 + RNA SNP G G A TCGA-HC-A6AQ-01A-11D-A30E-08 TCGA-HC-A6AQ-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 818ac005-a711-4c39-a06c-d103c59def26 91c131c3-f705-4867-8a15-2661ef72a6c1 g.chr21:11038898G>A ENST00000470054.1 - 0 1305 B melanoma antigen family, member 2 Colorectal(6;3.44e-05)|COAD - Colon adenocarcinoma(6;0.00727)|READ - Rectum adenocarcinoma(6;0.0723) UCEC - Uterine corpus endometrioid carcinoma (6;0.0974)|all cancers(6;2.54e-22)|Epithelial(6;4.21e-19)|OV - Ovarian serous cystadenocarcinoma(6;1.16e-09)|BRCA - Breast invasive adenocarcinoma(6;7.72e-05)|Lung(8;0.000189)|LUSC - Lung squamous cell carcinoma(6;0.00379)|GBM - Glioblastoma multiforme(6;0.00391)|Kidney(17;0.0773)|LUAD - Lung adenocarcinoma(8;0.247) CAAGTCTGAAGAAGGTGTTGG 0.438000 6 233 0 0 1 0 0 OLFM3 118427 broad.mit.edu 37 1 102269968 102269968 + Silent SNP G G A TCGA-HC-A6AQ-01A-11D-A30E-08 TCGA-HC-A6AQ-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 818ac005-a711-4c39-a06c-d103c59def26 91c131c3-f705-4867-8a15-2661ef72a6c1 g.chr1:102269968G>A ENST00000370103.4 - 6 1416 c.1203C>T c.(1201-1203)tcC>tcT p.S401S OLFM3_ENST00000462354.1_5'UTR|OLFM3_ENST00000338858.5_Silent_p.S421S|OLFM3_ENST00000536598.1_3'UTR NM_058170.2 NP_477518.2 Q96PB7 NOE3_HUMAN olfactomedin 3 421 Olfactomedin-like. extracellular region breast(1)|endometrium(1)|kidney(1)|large_intestine(8)|lung(24)|ovary(3)|prostate(1)|skin(1)|soft_tissue(1)|upper_aerodigestive_tract(2) 43 all_epithelial(167;1.87e-06)|all_lung(203;8.12e-05)|Lung NSC(277;0.000189) all cancers(265;0.0843)|Epithelial(280;0.0921)|COAD - Colon adenocarcinoma(174;0.145) AGGTTTTGGTGGAATAGGAAT 0.443000 8 117 0 0 1 0 0 XPA 7507 broad.mit.edu 37 9 100459525 100459525 + Missense_Mutation SNP G G T TCGA-HC-A6AQ-01A-11D-A30E-08 TCGA-HC-A6AQ-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 818ac005-a711-4c39-a06c-d103c59def26 91c131c3-f705-4867-8a15-2661ef72a6c1 g.chr9:100459525G>T ENST00000375128.4 - 1 114 c.50C>A c.(49-51)cCc>cAc p.P17H NM_000380.3 NP_000371.1 P23025 XPA_HUMAN xeroderma pigmentosum, complementation group A 17 Interaction with CEP164 and required for UV resistance. nucleotide-excision repair, DNA damage removal nucleoplasm damaged DNA binding|metal ion binding|nucleotide binding|protein domain specific binding|protein homodimerization activity breast(1)|endometrium(4)|large_intestine(1)|lung(4)|prostate(1) 11 Acute lymphoblastic leukemia(62;0.158) CAGCTCCGCGGGTTGCTCTAA 0.731000 """Mis, N, F, S""" """skin basal cell, skin squamous cell, melanoma""" Nucleotide excision repair (NER) Xeroderma Pigmentosum 3 26 0.004672 0.00505081 1 1 0 FITM2 128486 broad.mit.edu 37 20 42935657 42935657 + Frame_Shift_Del DEL C C - TCGA-HC-A6AQ-01A-11D-A30E-08 TCGA-HC-A6AQ-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 818ac005-a711-4c39-a06c-d103c59def26 91c131c3-f705-4867-8a15-2661ef72a6c1 g.chr20:42935657delC ENST00000396825.3 - 2 417 c.397delG c.(397-399)aafs p.E133fs NM_001080472.1 NP_001073941.1 Q8N6M3 FITM2_HUMAN fat storage-inducing transmembrane protein 2 133 cellular triglyceride homeostasis|lipid particle organization|positive regulation of sequestering of triglyceride|regulation of triglyceride biosynthetic process integral to endoplasmic reticulum membrane endometrium(2)|lung(2)|skin(2) 6 CTCTGGTGTTCCTTTCTGACC 0.582 8 62 --- --- --- ---