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 FPR3 2359 broad.mit.edu 37 19 52327322 52327322 + Silent SNP C C A TCGA-P5-A5EY-01A-11D-A27K-08 TCGA-P5-A5EY-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3a5a3795-2b25-41ac-8a9c-36873f0a1a8d 5778bee3-f152-40e1-9e56-d72dc9591de0 g.chr19:52327322C>A ENST00000339223.4 + 2 500 c.321C>A c.(319-321)atC>atA p.I107I FPR3_ENST00000595991.1_Silent_p.I107I NM_002030.3 NP_002021.3 P25089 FPR3_HUMAN formyl peptide receptor 3 107 cellular component movement|chemotaxis integral to membrane|plasma membrane N-formyl peptide receptor activity NS(1)|breast(3)|endometrium(3)|kidney(1)|large_intestine(5)|lung(17)|ovary(1)|prostate(1)|skin(3) 35 TGATAGACATCAACCTGTTTG 0.478000 7 84 0.00198382 0.00210781 1 1 0 NBPF10 100132406 broad.mit.edu 37 1 145302714 145302714 + Silent SNP A A G rs9424867 TCGA-P5-A5EY-01A-11D-A27K-08 TCGA-P5-A5EY-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3a5a3795-2b25-41ac-8a9c-36873f0a1a8d 5778bee3-f152-40e1-9e56-d72dc9591de0 g.chr1:145302714A>G ENST00000342960.5 + 8 1187 c.1152A>G c.(1150-1152)ttA>ttG p.L384L NBPF10_ENST00000369338.1_Silent_p.L113L|NBPF10_ENST00000369339.2_Silent_p.L113L|RP11-458D21.5_ENST00000468030.1_3'UTR NM_001039703.4 NP_001034792.4 A6NDV3 A6NDV3_HUMAN neuroblastoma breakpoint family, member 10 384 p.L113L(3)|p.L384L(3) 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) AGGAGAAGTTACGGGAAGGGA 0.527000 3 66 0 0 1 0 0 MYH6 4624 broad.mit.edu 37 14 23851755 23851755 + Missense_Mutation SNP G G A TCGA-P5-A5EY-01A-11D-A27K-08 TCGA-P5-A5EY-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3a5a3795-2b25-41ac-8a9c-36873f0a1a8d 5778bee3-f152-40e1-9e56-d72dc9591de0 g.chr14:23851755G>A ENST00000405093.3 - 38 5748 c.5678C>T c.(5677-5679)aCc>aTc p.T1893I MYH6_ENST00000356287.3_Missense_Mutation_p.T1893I NM_002471.3 NP_002462.2 P13533 MYH6_HUMAN myosin, heavy chain 6, cardiac muscle, alpha 1893 adult heart development|atrial cardiac muscle tissue morphogenesis|cardiac muscle fiber development|in utero embryonic development|muscle filament sliding|regulation of ATPase activity|regulation of blood pressure|regulation of heart rate|regulation of the force of heart contraction|sarcomere organization|striated muscle contraction|ventricular cardiac muscle tissue morphogenesis|visceral muscle development cytosol|focal adhesion|muscle myosin complex|myosin filament|nucleus|sarcomere actin binding|actin-dependent ATPase activity|ATP binding|calmodulin binding|microfilament motor activity|protein kinase binding|structural constituent of muscle breast(4)|cervix(2)|endometrium(8)|kidney(2)|large_intestine(16)|liver(1)|lung(60)|ovary(2)|pancreas(3)|prostate(6)|skin(6)|stomach(3)|upper_aerodigestive_tract(4)|urinary_tract(2) 119 all_cancers(95;2.54e-05) GBM - Glioblastoma multiforme(265;0.00764)|READ - Rectum adenocarcinoma(4;0.0289)|Colorectal(4;0.0441) GGACAGGTTGGTGTTGGCTTG 0.592000 6 152 0 0 1 0 0 POM121L9P 0 broad.mit.edu 37 22 24659813 24659813 + RNA SNP C C T TCGA-P5-A5EY-01A-11D-A27K-08 TCGA-P5-A5EY-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3a5a3795-2b25-41ac-8a9c-36873f0a1a8d 5778bee3-f152-40e1-9e56-d72dc9591de0 g.chr22:24659813C>T ENST00000414583.2 + 0 3338 NR_003714.1 ATCTGCGCACCCGGAGGTGGG 0.607000 3 7 0 0 1 0 0 IRF3 3661 broad.mit.edu 37 19 50163010 50163010 + Missense_Mutation SNP C C T TCGA-P5-A5EY-01A-11D-A27K-08 TCGA-P5-A5EY-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3a5a3795-2b25-41ac-8a9c-36873f0a1a8d 5778bee3-f152-40e1-9e56-d72dc9591de0 g.chr19:50163010C>T ENST00000600911.1 - 6 1455 c.1063G>A c.(1063-1065)Gca>Aca p.A355T IRF3_ENST00000597198.1_Silent_p.L393L|IRF3_ENST00000309877.7_Silent_p.L393L|IRF3_ENST00000599223.1_Silent_p.L266L|IRF3_ENST00000598808.1_Silent_p.L247L|IRF3_ENST00000593922.1_Silent_p.L247L|IRF3_ENST00000596822.1_Missense_Mutation_p.A82T|IRF3_ENST00000377135.4_Silent_p.L266L|IRF3_ENST00000377139.3_Silent_p.L393L|IRF3_ENST00000600022.1_Silent_p.L120L|IRF3_ENST00000599144.1_Silent_p.L247L|IRF3_ENST00000601291.1_Missense_Mutation_p.A399T|IRF3_ENST00000599680.1_5'UTR|IRF3_ENST00000596765.1_Silent_p.L120L Q14653 IRF3_HUMAN interferon regulatory factor 3 115 Involved in HERC5 binding. interferon-gamma-mediated signaling pathway|interspecies interaction between organisms|MyD88-independent toll-like receptor signaling pathway|negative regulation of type I interferon production|response to virus|Toll signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway|transcription from RNA polymerase II promoter|type I interferon-mediated signaling pathway cytosol|endosome membrane|nucleoplasm|plasma membrane DNA binding|protein homodimerization activity|sequence-specific DNA binding transcription factor activity|transcription cofactor activity breast(1)|large_intestine(2)|lung(4)|ovary(2)|stomach(1) 10 all_lung(116;3.24e-07)|Lung NSC(112;1.6e-06)|all_neural(266;0.0459)|Ovarian(192;0.0728) OV - Ovarian serous cystadenocarcinoma(262;0.0011)|GBM - Glioblastoma multiforme(134;0.02) TGGAAATGTGCAGGTCCACAG 0.617000 4 143 0 0 1 0 0 HLA-DRB6 0 broad.mit.edu 37 6 32522722 32522722 + RNA SNP C C A rs114905475 by1000genomes TCGA-P5-A5EY-01A-11D-A27K-08 TCGA-P5-A5EY-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3a5a3795-2b25-41ac-8a9c-36873f0a1a8d 5778bee3-f152-40e1-9e56-d72dc9591de0 g.chr6:32522722C>A ENST00000411500.1 - 0 484 NR_001298.1 TGGGTCTTTGCAGGATACACA 0.488000 3 30 1 1 1 1 0 PRG4 10216 broad.mit.edu 37 1 186276981 186276981 + Silent SNP A A G TCGA-P5-A5EY-01A-11D-A27K-08 TCGA-P5-A5EY-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3a5a3795-2b25-41ac-8a9c-36873f0a1a8d 5778bee3-f152-40e1-9e56-d72dc9591de0 g.chr1:186276981A>G ENST00000445192.2 + 7 2175 c.2130A>G c.(2128-2130)aaA>aaG p.K710K PRG4_ENST00000367485.4_Silent_p.K617K|PRG4_ENST00000367484.3_Intron|PRG4_ENST00000367483.4_Silent_p.K669K|PRG4_ENST00000367486.3_Silent_p.K667K NM_005807.3 NP_005798.2 Q92954 PRG4_HUMAN proteoglycan 4 710 59 X 8 AA repeats of K-X-P-X-P-T-T-X. cell proliferation|immune response extracellular region polysaccharide binding|protein binding|scavenger receptor activity NS(2)|breast(1)|central_nervous_system(1)|endometrium(26)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(12)|lung(33)|prostate(7)|skin(9)|upper_aerodigestive_tract(2)|urinary_tract(1) 102 CTACCCCTAAAGGGACTGCTC 0.582000 5 261 0 0 1 0 0 OR2T35 403244 broad.mit.edu 37 1 248801912 248801912 + Silent SNP C C G rs146851066 by1000genomes TCGA-P5-A5EY-01A-11D-A27K-08 TCGA-P5-A5EY-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3a5a3795-2b25-41ac-8a9c-36873f0a1a8d 5778bee3-f152-40e1-9e56-d72dc9591de0 g.chr1:248801912C>G ENST00000317450.3 - 1 647 c.648G>C c.(646-648)gtG>gtC p.V216V NM_001001827.1 NP_001001827.1 Q8NGX2 O2T35_HUMAN olfactory receptor, family 2, subfamily T, member 35 216 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity p.V216V(1) endometrium(1)|large_intestine(1)|lung(1)|ovary(1)|prostate(1)|skin(1) 6 all_cancers(71;2.04e-05)|all_epithelial(71;1.03e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136) all_cancers(173;0.237) OV - Ovarian serous cystadenocarcinoma(106;0.0265) GCGTGTAGGACACAGAGATGA 0.542000 3 33 0 0 1 0 0 SLC6A4 6532 broad.mit.edu 37 17 28548857 28548857 + Silent SNP G G A rs145558656 TCGA-P5-A5EY-01A-11D-A27K-08 TCGA-P5-A5EY-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3a5a3795-2b25-41ac-8a9c-36873f0a1a8d 5778bee3-f152-40e1-9e56-d72dc9591de0 g.chr17:28548857G>A ENST00000401766.2 - 2 632 c.120C>T c.(118-120)tcC>tcT p.S40S SLC6A4_ENST00000261707.3_Silent_p.S40S P31645 SC6A4_HUMAN solute carrier family 6 (neurotransmitter transporter), member 4 40 response to toxin|serotonin uptake|thalamus development cytosol|endomembrane system|endosome membrane|membrane raft actin filament binding|Rab GTPase binding|serotonin transmembrane transporter activity|serotonin:sodium symporter activity breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(8)|ovary(1)|prostate(1)|skin(4) 25 Amineptine(DB04836)|Amitriptyline(DB00321)|Amoxapine(DB00543)|Citalopram(DB00215)|Clomipramine(DB01242)|Cocaine(DB00907)|Desipramine(DB01151)|Dexfenfluramine(DB01191)|Dextromethorphan(DB00514)|Doxepin(DB01142)|Duloxetine(DB00476)|Escitalopram(DB01175)|Fluoxetine(DB00472)|Fluvoxamine(DB00176)|Imipramine(DB00458)|Methylphenidate(DB00422)|Milnacipran(DB04896)|Minaprine(DB00805)|Nefazodone(DB01149)|Nortriptyline(DB00540)|Paroxetine(DB00715)|Phentermine(DB00191)|Protriptyline(DB00344)|Sertraline(DB01104)|Sibutramine(DB01105)|Tegaserod(DB01079)|Tramadol(DB00193)|Trazodone(DB00656)|Trimipramine(DB00726)|Venlafaxine(DB00285)|Zimelidine(DB04832) ATATTTGCCCGGACTCCACTT 0.537000 4 181 0 0 1 0 0 BRAF 673 broad.mit.edu 37 7 140477790 140477791 + Splice_Site INS - - CTGAGTACT TCGA-P5-A5EY-01A-11D-A27K-08 TCGA-P5-A5EY-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3a5a3795-2b25-41ac-8a9c-36873f0a1a8d 5778bee3-f152-40e1-9e56-d72dc9591de0 g.chr7:140477790_140477791insCTGAGTACT ENST00000288602.6 - 12 1577_1578 c.e12+1 NM_004333.4 NP_004324.2 P15056 BRAF_HUMAN v-raf murine sarcoma viral oncogene homolog B 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 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) CACAAGCTCACCTGAGTACTCC 0.386 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 10 44 --- --- --- --- RP11-597A11.1 0 broad.mit.edu 37 14 20138372 20138372 + RNA DEL G G - TCGA-P5-A5EY-01A-11D-A27K-08 TCGA-P5-A5EY-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3a5a3795-2b25-41ac-8a9c-36873f0a1a8d 5778bee3-f152-40e1-9e56-d72dc9591de0 g.chr14:20138372delG ENST00000548261.1 + 0 391 TGAAACAaaagaaagaaagaa 0.398 3 4 --- --- --- ---