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 NLRC4 58484 broad.mit.edu 37 2 32475161 32475161 + Missense_Mutation SNP A A T TCGA-CH-5789-01A-11D-1576-08 TCGA-CH-5789-10A-01D-1576-08 Untested Somatic Phase_I WXS none Illumina GAIIx b68c5ec2-0875-4d77-b4b7-738d2b2f313c ce3a5af9-17c9-4195-8da2-1bee4bac3cac g.chr2:32475161A>T ENST00000404025.2 - 5 2260 c.1772T>A c.(1771-1773)aTc>aAc p.I591N NLRC4_ENST00000402280.1_Missense_Mutation_p.I591N|NLRC4_ENST00000360906.5_Missense_Mutation_p.I591N|NLRC4_ENST00000342905.6_Intron Q9NPP4 NLRC4_HUMAN NLR family, CARD domain containing 4 591 activation of caspase activity|defense response to bacterium|detection of bacterium|interleukin-1 beta secretion|positive regulation of apoptosis cytoplasm ATP binding|magnesium ion binding|protein homodimerization activity p.I591N(1) breast(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(6)|lung(1)|ovary(3)|skin(2)|stomach(2) 16 Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.208) GTAATCGGGGATGTTCCCTGA 0.408 6 245 --- --- --- --- THNSL2 55258 broad.mit.edu 37 2 88478453 88478453 + Silent SNP G G A TCGA-CH-5789-01A-11D-1576-08 TCGA-CH-5789-10A-01D-1576-08 Untested Somatic Phase_I WXS none Illumina GAIIx b68c5ec2-0875-4d77-b4b7-738d2b2f313c ce3a5af9-17c9-4195-8da2-1bee4bac3cac g.chr2:88478453G>A ENST00000324166.5 + 4 2414 c.723G>A c.(721-723)caG>caA p.Q241Q THNSL2_ENST00000496844.1_3'UTR|THNSL2_ENST00000343544.4_Silent_p.Q241Q|THNSL2_ENST00000449349.1_Silent_p.Q209Q|THNSL2_ENST00000358591.2_Silent_p.Q241Q|THNSL2_ENST00000402102.1_Silent_p.Q241Q|THNSL2_ENST00000377254.3_Silent_p.Q241Q NM_018271.4 NP_060741.3 Q86YJ6 THNS2_HUMAN threonine synthase-like 2 (S. cerevisiae) 241 threonine biosynthetic process threonine synthase activity p.Q241Q(1) breast(4)|lung(17)|ovary(1)|prostate(3)|upper_aerodigestive_tract(2) 27 CTTACTTCCAGTGTACGCCAT 0.552 10 447 --- --- --- --- CP 1356 broad.mit.edu 37 3 148905905 148905905 + Missense_Mutation SNP A A C TCGA-CH-5789-01A-11D-1576-08 TCGA-CH-5789-10A-01D-1576-08 Untested Somatic Phase_I WXS none Illumina GAIIx b68c5ec2-0875-4d77-b4b7-738d2b2f313c ce3a5af9-17c9-4195-8da2-1bee4bac3cac g.chr3:148905905A>C ENST00000264613.6 - 10 2060 c.1798T>G c.(1798-1800)Ttt>Gtt p.F600V CP_ENST00000462336.1_5'UTR NM_000096.3 NP_000087 P00450 CERU_HUMAN ceruloplasmin (ferroxidase) 600 F5/8 type A 2.|Plastocyanin-like 4. cellular iron ion homeostasis|copper ion transport|transmembrane transport extracellular space chaperone binding|ferroxidase activity p.F600V(1) breast(6)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(9)|lung(14)|ovary(1)|prostate(1)|soft_tissue(1)|upper_aerodigestive_tract(2)|urinary_tract(1) 44 Prostate(884;0.00217)|Hepatocellular(537;0.00826)|Myeloproliferative disorder(1037;0.0122)|all_neural(597;0.0189)|Melanoma(1037;0.152) LUSC - Lung squamous cell carcinoma(72;0.0473)|Lung(72;0.0607) Drotrecogin alfa(DB00055) GCAGTTGTAAACATTCTAATA 0.343 6 261 --- --- --- --- ADCY1 107 broad.mit.edu 37 7 45744119 45744119 + Silent SNP C C A TCGA-CH-5789-01A-11D-1576-08 TCGA-CH-5789-10A-01D-1576-08 Untested Somatic Phase_I WXS none Illumina GAIIx b68c5ec2-0875-4d77-b4b7-738d2b2f313c ce3a5af9-17c9-4195-8da2-1bee4bac3cac g.chr7:45744119C>A ENST00000297323.7 + 17 2743 c.2721C>A c.(2719-2721)ctC>ctA p.L907L NM_021116.2 NP_066939.1 Q08828 ADCY1_HUMAN adenylate cyclase 1 (brain) 907 activation of adenylate cyclase activity by G-protein signaling pathway|activation of phospholipase C activity|activation of protein kinase A activity|cellular response to glucagon stimulus|energy reserve metabolic process|inhibition of adenylate cyclase activity by G-protein signaling pathway|nerve growth factor receptor signaling pathway|synaptic transmission|transmembrane transport|water transport integral to membrane|plasma membrane ATP binding|calcium- and calmodulin-responsive adenylate cyclase activity|calmodulin binding|metal ion binding p.L907L(1) breast(3)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(2)|large_intestine(14)|lung(33)|ovary(4)|prostate(3)|skin(4)|upper_aerodigestive_tract(1) 71 Adenosine monophosphate(DB00131)|Adenosine triphosphate(DB00171)|Adenosine(DB00640) AAACAAAGCTCATGGAAAAAG 0.498 6 134 --- --- --- --- SPATA31C1 441452 broad.mit.edu 37 9 90535290 90535290 + RNA SNP T T C rs55701842 by1000genomes TCGA-CH-5789-01A-11D-1576-08 TCGA-CH-5789-10A-01D-1576-08 Untested Somatic Phase_I WXS none Illumina GAIIx b68c5ec2-0875-4d77-b4b7-738d2b2f313c ce3a5af9-17c9-4195-8da2-1bee4bac3cac g.chr9:90535290T>C ENST00000602681.1 + 0 1194 CTATGGAAGATGCTGCTCCCA 0.592 5 302 --- --- --- --- CPSF2 53981 broad.mit.edu 37 14 92608697 92608697 + Splice_Site SNP T T C TCGA-CH-5789-01A-11D-1576-08 TCGA-CH-5789-10A-01D-1576-08 Untested Somatic Phase_I WXS none Illumina GAIIx b68c5ec2-0875-4d77-b4b7-738d2b2f313c ce3a5af9-17c9-4195-8da2-1bee4bac3cac g.chr14:92608697T>C ENST00000298875.4 + 8 1134 c.e8+2 NM_017437.2 NP_059133.1 Q9P2I0 CPSF2_HUMAN cleavage and polyadenylation specific factor 2, 100kDa histone mRNA 3'-end processing|mRNA export from nucleus|nuclear mRNA splicing, via spliceosome|termination of RNA polymerase II transcription mRNA cleavage and polyadenylation specificity factor complex hydrolase activity|protein binding|RNA binding p.?(1) breast(2)|cervix(1)|endometrium(3)|large_intestine(2)|lung(7)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(3) 24 all_cancers(154;0.0766) COAD - Colon adenocarcinoma(157;0.222) AAGTCCCAGGTTTGTTCTCAT 0.383 5 286 --- --- --- --- CDAN1 146059 broad.mit.edu 37 15 43022880 43022880 + Missense_Mutation SNP A A C TCGA-CH-5789-01A-11D-1576-08 TCGA-CH-5789-10A-01D-1576-08 Untested Somatic Phase_I WXS none Illumina GAIIx b68c5ec2-0875-4d77-b4b7-738d2b2f313c ce3a5af9-17c9-4195-8da2-1bee4bac3cac g.chr15:43022880A>C ENST00000356231.3 - 14 2113 c.2090T>G c.(2089-2091)gTg>gGg p.V697G NM_138477.2 NP_612486.2 Q8IWY9 CDAN1_HUMAN codanin 1 697 integral to membrane protein binding p.V697G(1) endometrium(2)|kidney(4)|large_intestine(3)|lung(6)|ovary(2)|pancreas(1)|prostate(2)|skin(1)|urinary_tract(3) 24 all_cancers(109;5.4e-16)|all_epithelial(112;2.97e-14)|Lung NSC(122;1.75e-08)|all_lung(180;5.99e-08)|Melanoma(134;0.0179)|Colorectal(260;0.215) GBM - Glioblastoma multiforme(94;2.49e-07) GAGAAACTCCACCAGCCAGGG 0.637 6 41 --- --- --- --- CSPG4 1464 broad.mit.edu 37 15 75980335 75980335 + Missense_Mutation SNP C C A TCGA-CH-5789-01A-11D-1576-08 TCGA-CH-5789-10A-01D-1576-08 Untested Somatic Phase_I WXS none Illumina GAIIx b68c5ec2-0875-4d77-b4b7-738d2b2f313c ce3a5af9-17c9-4195-8da2-1bee4bac3cac g.chr15:75980335C>A ENST00000308508.5 - 3 3163 c.3071G>T c.(3070-3072)aGc>aTc p.S1024I NM_001897.4 NP_001888.2 Q6UVK1 CSPG4_HUMAN chondroitin sulfate proteoglycan 4 1024 Gly/Ser-rich (glycosaminoglycan attachment domain).|Interaction with COL5A1 (By similarity).|Interaction with COL6A2 (By similarity). angiogenesis|cell differentiation|intracellular signal transduction|positive regulation of peptidyl-tyrosine phosphorylation|tissue remodeling apical plasma membrane|cell surface|integral to plasma membrane|intracellular|lamellipodium membrane protein kinase binding|signal transducer activity p.S1024I(1) breast(1)|cervix(2)|endometrium(5)|kidney(5)|large_intestine(3)|liver(2)|lung(18)|ovary(2)|pancreas(2)|prostate(4)|skin(4) 48 GAAGATCCGGCTGATGGTCTG 0.657 4 118 --- --- --- --- MUC16 94025 broad.mit.edu 37 19 9075833 9075833 + Silent SNP C C T TCGA-CH-5789-01A-11D-1576-08 TCGA-CH-5789-10A-01D-1576-08 Untested Somatic Phase_I WXS none Illumina GAIIx b68c5ec2-0875-4d77-b4b7-738d2b2f313c ce3a5af9-17c9-4195-8da2-1bee4bac3cac g.chr19:9075833C>T ENST00000397910.4 - 3 11816 c.11613G>A c.(11611-11613)gaG>gaA p.E3871E NM_024690.2 NP_078966.2 Q8WXI7 MUC16_HUMAN mucin 16, cell surface associated 3872 Thr-rich. cell adhesion extracellular space|extrinsic to membrane|integral to membrane|plasma membrane protein binding p.E3871E(2) 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 ATTTTTCTTTCTCATTCCAGG 0.448 8 100 --- --- --- --- PBX4 80714 broad.mit.edu 37 19 19675795 19675795 + Missense_Mutation SNP G G A rs139542458 TCGA-CH-5789-01A-11D-1576-08 TCGA-CH-5789-10A-01D-1576-08 Untested Somatic Phase_I WXS none Illumina GAIIx b68c5ec2-0875-4d77-b4b7-738d2b2f313c ce3a5af9-17c9-4195-8da2-1bee4bac3cac g.chr19:19675795G>A ENST00000251203.9 - 6 1158 c.872C>T c.(871-873)aCg>aTg p.T291M NM_025245.2 NP_079521.1 Q9BYU1 PBX4_HUMAN pre-B-cell leukemia homeobox 4 sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity p.T291M(1) large_intestine(1)|lung(4)|ovary(1)|prostate(3) 9 CCCAACTTCCGTGGTATCCAC 0.527 9 377 --- --- --- --- NSFL1C 55968 broad.mit.edu 37 20 1433675 1433675 + Splice_Site SNP C C T TCGA-CH-5789-01A-11D-1576-08 TCGA-CH-5789-10A-01D-1576-08 Untested Somatic Phase_I WXS none Illumina GAIIx b68c5ec2-0875-4d77-b4b7-738d2b2f313c ce3a5af9-17c9-4195-8da2-1bee4bac3cac g.chr20:1433675C>T ENST00000216879.4 - 6 1515 c.e6+1 NSFL1C_ENST00000476071.1_Splice_Site|NSFL1C_ENST00000381658.4_Splice_Site|NSFL1C_ENST00000353088.2_Splice_Site|NSFL1C_ENST00000461211.1_Splice_Site|NSFL1C_ENST00000350991.4_Splice_Site NM_016143.4 NP_057227.2 Q9UNZ2 NSF1C_HUMAN NSFL1 (p97) cofactor (p47) chromosome|Golgi stack|nucleus lipid binding|protein binding p.?(1) breast(1)|large_intestine(5)|lung(6)|pancreas(1)|prostate(1)|skin(1)|urinary_tract(1) 16 TTTTCACTCACCCTCTGCGGA 0.453 7 354 --- --- --- --- SLC4A11 83959 broad.mit.edu 37 20 3209652 3209652 + Missense_Mutation SNP A A C TCGA-CH-5789-01A-11D-1576-08 TCGA-CH-5789-10A-01D-1576-08 Untested Somatic Phase_I WXS none Illumina GAIIx b68c5ec2-0875-4d77-b4b7-738d2b2f313c ce3a5af9-17c9-4195-8da2-1bee4bac3cac g.chr20:3209652A>C ENST00000380059.3 - 17 2254 c.2153T>G c.(2152-2154)gTg>gGg p.V718G SLC4A11_ENST00000380056.3_Missense_Mutation_p.V691G|SLC4A11_ENST00000488544.1_5'UTR|SLC4A11_ENST00000539553.2_Missense_Mutation_p.V675G NM_001174090.1 NP_001167561.1 Q8NBS3 S4A11_HUMAN solute carrier family 4, sodium borate transporter, member 11 691 Membrane (bicarbonate transporter). cellular cation homeostasis|fluid transport|phosphoenolpyruvate-dependent sugar phosphotransferase system basolateral plasma membrane|integral to membrane bicarbonate transmembrane transporter activity|borate transmembrane transporter activity|hydrogen ion channel activity|inorganic anion exchanger activity|sodium channel activity|sugar:hydrogen symporter activity p.V718G(1)|p.V691G(1) breast(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|liver(1)|lung(16)|ovary(2)|prostate(4)|soft_tissue(1)|urinary_tract(1) 40 AGTGCCCTTCACCAGCCTGCA 0.667 8 25 --- --- --- --- XRCC6 2547 broad.mit.edu 37 22 42057337 42057337 + Missense_Mutation SNP C C T TCGA-CH-5789-01A-11D-1576-08 TCGA-CH-5789-10A-01D-1576-08 Untested Somatic Phase_I WXS none Illumina GAIIx b68c5ec2-0875-4d77-b4b7-738d2b2f313c ce3a5af9-17c9-4195-8da2-1bee4bac3cac g.chr22:42057337C>T ENST00000359308.4 + 11 2180 c.1525C>T c.(1525-1527)Ccc>Tcc p.P509S XRCC6_ENST00000428575.2_Missense_Mutation_p.P376S|XRCC6_ENST00000405506.1_Missense_Mutation_p.P459S|XRCC6_ENST00000360079.3_Missense_Mutation_p.P509S|XRCC6_ENST00000402580.3_Missense_Mutation_p.P468S|XRCC6_ENST00000405878.1_Missense_Mutation_p.P509S P12956 XRCC6_HUMAN X-ray repair complementing defective repair in Chinese hamster cells 6 509 DNA ligation|double-strand break repair via nonhomologous end joining|initiation of viral infection|negative regulation of transcription, DNA-dependent|positive regulation of transcription from RNA polymerase II promoter|provirus integration|telomere maintenance|transcription, DNA-dependent DNA-dependent protein kinase-DNA ligase 4 complex|Ku70:Ku80 complex|membrane fraction|nuclear telomere cap complex|transcription factor complex 5'-deoxyribose-5-phosphate lyase activity|ATP binding|ATP-dependent DNA helicase activity|double-stranded DNA binding|protein C-terminus binding|transcription regulatory region DNA binding p.P509S(2) central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(4)|liver(2)|lung(12)|ovary(1)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1) 31 TTTTCTAGTGCCCAAGGTTGA 0.473 Non-homologous end-joining 7 250 --- --- --- --- XIST 7503 broad.mit.edu 37 X 73066367 73066367 + RNA SNP T T C TCGA-CH-5789-01A-11D-1576-08 TCGA-CH-5789-10A-01D-1576-08 Untested Somatic Phase_I WXS none Illumina GAIIx b68c5ec2-0875-4d77-b4b7-738d2b2f313c ce3a5af9-17c9-4195-8da2-1bee4bac3cac g.chrX:73066367T>C ENST00000429829.1 - 0 6221 NR_001564.2 AGTAGGACCTTATTCACATGG 0.448 6 127 --- --- --- --- PPP1R3A 5506 broad.mit.edu 37 7 113519968 113519968 + Frame_Shift_Del DEL T T - TCGA-CH-5789-01A-11D-1576-08 TCGA-CH-5789-10A-01D-1576-08 Untested Somatic Phase_I WXS none Illumina GAIIx b68c5ec2-0875-4d77-b4b7-738d2b2f313c ce3a5af9-17c9-4195-8da2-1bee4bac3cac g.chr7:113519968delT ENST00000284601.3 - 4 1247 c.1179delA c.(1177-1179)aaafs p.K393fs NM_002711.3 NP_002702.2 Q16821 PPR3A_HUMAN protein phosphatase 1, regulatory subunit 3A 393 glycogen metabolic process integral to membrane NS(2)|breast(8)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(14)|liver(1)|lung(43)|ovary(10)|pancreas(7)|prostate(3)|skin(15)|stomach(1)|upper_aerodigestive_tract(2) 121 CTGAGGAATATTTTTCATTGC 0.393 8 413 --- --- --- ---