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 SP3 6670 broad.mit.edu 37 2 174820690 174820690 + Missense_Mutation SNP C C A TCGA-V1-A8MJ-01A-11D-A364-08 TCGA-V1-A8MJ-10A-01D-A362-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1613b958-7660-4968-b373-04b00f3f47c3 80182c4a-c41d-454a-bd5a-62ba971b8050 g.chr2:174820690C>A ENST00000310015.6 - 4 1080 c.550G>T c.(550-552)Gtt>Ttt p.V184F SP3_ENST00000418194.2_Missense_Mutation_p.V116F|SP3_ENST00000455789.2_Missense_Mutation_p.V131F NM_001172712.1|NM_003111.4 NP_001166183.1|NP_003102.1 Q02447 SP3_HUMAN Sp3 transcription factor 184 Transactivation domain (Gln-rich). negative regulation of transcription, DNA-dependent|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent PML body protein binding|zinc ion binding EWSR1/SP3(3) NS(2)|large_intestine(3)|ovary(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1) 9 OV - Ovarian serous cystadenocarcinoma(117;0.185) CCAATTTGAACCTGCTGACCA 0.413000 29 159 8.16721e-17 9.2325e-17 1 1 0 SYNC 81493 broad.mit.edu 37 1 33149934 33149934 + Missense_Mutation SNP A A G TCGA-V1-A8MJ-01A-11D-A364-08 TCGA-V1-A8MJ-10A-01D-A362-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1613b958-7660-4968-b373-04b00f3f47c3 80182c4a-c41d-454a-bd5a-62ba971b8050 g.chr1:33149934A>G ENST00000373484.3 - 3 1382 c.1283T>C c.(1282-1284)gTg>gCg p.V428A RBBP4_ENST00000373493.5_3'UTR|SYNC_ENST00000409190.3_Missense_Mutation_p.V428A NM_001161708.1 NP_001155180.1 Q9H7C4 SYNCI_HUMAN syncoilin, intermediate filament protein 428 Coil 2. intermediate filament|perinuclear region of cytoplasm structural molecule activity breast(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(2)|ovary(1)|skin(1)|upper_aerodigestive_tract(1) 12 CTGGAGTTGCACCCCATTTCT 0.433000 6 81 0 0 1 0 0 EMCN 51705 broad.mit.edu 37 4 101344519 101344519 + Missense_Mutation SNP G G C TCGA-V1-A8MJ-01A-11D-A364-08 TCGA-V1-A8MJ-10A-01D-A362-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1613b958-7660-4968-b373-04b00f3f47c3 80182c4a-c41d-454a-bd5a-62ba971b8050 g.chr4:101344519G>C ENST00000296420.4 - 6 636 c.458C>G c.(457-459)aCa>aGa p.T153R EMCN_ENST00000511970.1_Missense_Mutation_p.T140R|EMCN_ENST00000305864.3_Intron NM_001159694.1|NM_016242.3 NP_001153166.1|NP_057326.2 Q9ULC0 MUCEN_HUMAN endomucin 153 extracellular region|integral to membrane|plasma membrane endometrium(2)|kidney(1)|large_intestine(2)|lung(7)|upper_aerodigestive_tract(1) 13 OV - Ovarian serous cystadenocarcinoma(123;2.49e-08) TGAGGTTAATGTACCAGTTTT 0.398000 5 41 0 0 1 0 0 CECR2 27443 broad.mit.edu 37 22 18020457 18020457 + Missense_Mutation SNP A A G TCGA-V1-A8MJ-01A-11D-A364-08 TCGA-V1-A8MJ-10A-01D-A362-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1613b958-7660-4968-b373-04b00f3f47c3 80182c4a-c41d-454a-bd5a-62ba971b8050 g.chr22:18020457A>G ENST00000262608.8 + 13 1789 c.1789A>G c.(1789-1791)Aca>Gca p.T597A CECR2_ENST00000400585.2_Missense_Mutation_p.T455A|CECR2_ENST00000400573.4_Missense_Mutation_p.T596A NM_031413.3 NP_113601.2 Q9BXF3 CECR2_HUMAN cat eye syndrome chromosome region, candidate 2 638 chromatin modification|cytokinesis|cytoskeleton organization|DNA fragmentation involved in apoptotic nuclear change|vesicle-mediated transport protein binding NS(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(11)|lung(22)|ovary(1)|pancreas(1)|prostate(2)|skin(5)|stomach(1)|urinary_tract(1) 59 all_epithelial(15;0.139) Lung(27;0.146) TTGTGGTGGGACACCCAGCCA 0.537000 4 36 0 0 1 0 0 ITGAX 3687 broad.mit.edu 37 16 31393167 31393167 + Missense_Mutation SNP C C A TCGA-V1-A8MJ-01A-11D-A364-08 TCGA-V1-A8MJ-10A-01D-A362-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1613b958-7660-4968-b373-04b00f3f47c3 80182c4a-c41d-454a-bd5a-62ba971b8050 g.chr16:31393167C>A ENST00000268296.4 + 30 3552 c.3431C>A c.(3430-3432)gCa>gAa p.A1144E ITGAX_ENST00000562522.1_Missense_Mutation_p.A1144E NM_000887.3 NP_000878.2 P20702 ITAX_HUMAN integrin, alpha X (complement component 3 receptor 4 subunit) 1144 blood coagulation|cell adhesion|integrin-mediated signaling pathway|leukocyte migration|organ morphogenesis integrin complex protein binding|receptor activity NS(1)|breast(1)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(8)|lung(42)|ovary(2)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1) 77 ATGGAGGAGGCAAATGGACAA 0.527000 4 56 0.150653 0.163208 1 1 0 ZNF799 90576 broad.mit.edu 37 19 12501446 12501446 + Missense_Mutation SNP T T C TCGA-V1-A8MJ-01A-11D-A364-08 TCGA-V1-A8MJ-10A-01D-A362-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1613b958-7660-4968-b373-04b00f3f47c3 80182c4a-c41d-454a-bd5a-62ba971b8050 g.chr19:12501446T>C ENST00000419318.1 - 4 2419 c.1670A>G c.(1669-1671)gAa>gGa p.E557G CTD-3105H18.14_ENST00000435033.1_Intron|ZNF799_ENST00000430385.3_Missense_Mutation_p.E589G Q96GE5 ZN799_HUMAN zinc finger protein 799 589 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding breast(3)|kidney(2)|large_intestine(4)|lung(4)|ovary(2)|prostate(2)|skin(2) 19 TTCCTTACATTCATACGGGTT 0.413000 5 58 0 0 1 0 0 C4orf19 55286 broad.mit.edu 37 4 37591911 37591911 + Missense_Mutation SNP G G C TCGA-V1-A8MJ-01A-11D-A364-08 TCGA-V1-A8MJ-10A-01D-A362-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1613b958-7660-4968-b373-04b00f3f47c3 80182c4a-c41d-454a-bd5a-62ba971b8050 g.chr4:37591911G>C ENST00000284437.6 + 3 412 c.234G>C c.(232-234)tgG>tgC p.W78C C4orf19_ENST00000508175.1_Intron|C4orf19_ENST00000381980.4_Missense_Mutation_p.W78C NM_018302.2 NP_060772.2 Q8IY42 CD019_HUMAN chromosome 4 open reading frame 19 78 large_intestine(1)|lung(3)|skin(3)|stomach(1)|urinary_tract(1) 9 AGCCCTGCTGGCCTCACCAAG 0.627000 6 27 0 0 1 0 0 PGC 5225 broad.mit.edu 37 6 41710082 41710082 + Missense_Mutation SNP C C T TCGA-V1-A8MJ-01A-11D-A364-08 TCGA-V1-A8MJ-10A-01D-A362-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1613b958-7660-4968-b373-04b00f3f47c3 80182c4a-c41d-454a-bd5a-62ba971b8050 g.chr6:41710082C>T ENST00000373025.3 - 5 655 c.593G>A c.(592-594)gGc>gAc p.G198D PGC_ENST00000425343.2_Missense_Mutation_p.G198D NM_002630.3 NP_002621.1 P20142 PEPC_HUMAN progastricsin (pepsinogen C) 198 digestion|proteolysis extracellular space aspartic-type endopeptidase activity endometrium(3)|kidney(1)|large_intestine(5)|lung(6)|skin(1) 16 Ovarian(28;0.0355)|Colorectal(47;0.121) Epithelial(12;0.000132)|STAD - Stomach adenocarcinoma(11;0.000204)|Colorectal(64;0.00245)|COAD - Colon adenocarcinoma(64;0.00507) CTGCACCATGCCCTGCATAGC 0.627000 3 49 0 0 1 0 0 OR8H2 390151 broad.mit.edu 37 11 55872975 55872975 + Missense_Mutation SNP T T C TCGA-V1-A8MJ-01A-11D-A364-08 TCGA-V1-A8MJ-10A-01D-A362-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1613b958-7660-4968-b373-04b00f3f47c3 80182c4a-c41d-454a-bd5a-62ba971b8050 g.chr11:55872975T>C ENST00000313503.1 + 1 457 c.457T>C c.(457-459)Ttt>Ctt p.F153L NM_001005200.1 NP_001005200.1 Q8N162 OR8H2_HUMAN olfactory receptor, family 8, subfamily H, member 2 153 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity p.F153L(1) breast(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(38)|ovary(1)|skin(3)|stomach(2)|upper_aerodigestive_tract(5)|urinary_tract(1) 61 Esophageal squamous(21;0.00693) TGTGATTGGCTTTATAGACTC 0.443000 HNSCC(53;0.14) 14 97 0 0 1 0 0 SLC47A1 55244 broad.mit.edu 37 17 19451300 19451300 + Silent SNP G G A TCGA-V1-A8MJ-01A-11D-A364-08 TCGA-V1-A8MJ-10A-01D-A362-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1613b958-7660-4968-b373-04b00f3f47c3 80182c4a-c41d-454a-bd5a-62ba971b8050 g.chr17:19451300G>A ENST00000270570.4 + 4 395 c.309G>A c.(307-309)acG>acA p.T103T SLC47A1_ENST00000436810.2_Silent_p.T80T|SLC47A1_ENST00000542886.1_Silent_p.T103T|SLC47A1_ENST00000457293.1_Silent_p.T103T|SLC47A1_ENST00000395585.1_Silent_p.T103T|SLC47A1_ENST00000571335.1_5'UTR|SLC47A1_ENST00000575023.1_Silent_p.T103T|SLC47A1_ENST00000584348.1_3'UTR NM_018242.2 NP_060712.2 Q96FL8 S47A1_HUMAN solute carrier family 47 (multidrug and toxin extrusion), member 1 103 integral to membrane|plasma membrane drug:hydrogen antiporter activity endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(4)|lung(5)|pancreas(1)|prostate(2)|upper_aerodigestive_tract(1) 23 all_cancers(12;2.49e-05)|all_epithelial(12;0.00263)|Hepatocellular(7;0.00345) CACCCCAGACGTACGGGAGCC 0.582000 4 25 0 0 1 0 0 TP53 7157 broad.mit.edu 37 17 7578389 7578389 + Missense_Mutation SNP G G A TCGA-V1-A8MJ-01A-11D-A364-08 TCGA-V1-A8MJ-10A-01D-A362-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1613b958-7660-4968-b373-04b00f3f47c3 80182c4a-c41d-454a-bd5a-62ba971b8050 g.chr17:7578389G>A ENST00000420246.2 - 5 673 c.541C>T c.(541-543)Cgc>Tgc p.R181C TP53_ENST00000269305.4_Missense_Mutation_p.R181C|TP53_ENST00000359597.4_Missense_Mutation_p.R181C|TP53_ENST00000574684.1_5'UTR|TP53_ENST00000455263.2_Missense_Mutation_p.R181C|TP53_ENST00000413465.2_Missense_Mutation_p.R181C|TP53_ENST00000445888.2_Missense_Mutation_p.R181C NM_001126114.2|NM_001276696.1 NP_001119586.1|NP_001263625.1 P04637 P53_HUMAN tumor protein p53 181 Interaction with AXIN1 (By similarity).|Interaction with HIPK1 (By similarity).|Required for interaction with FBXO42. R -> C (in LFS; germline mutation and in sporadic cancers; somatic mutation).|R -> G (in sporadic cancers; somatic mutation).|R -> H (in LFS; germline mutation and in sporadic cancers; somatic mutation).|R -> L (in a familial cancer not matching LFS; germline mutation and in sporadic cancers; somatic mutation).|R -> P (in a familial cancer not matching LFS; germline mutation and in sporadic cancers; somatic mutation).|R -> S (in sporadic cancers; somatic mutation). activation of caspase activity by cytochrome c|base-excision repair|blood coagulation|cell cycle arrest|cell differentiation|cell proliferation|cellular protein localization|cellular response to drug|cellular response to glucose starvation|cellular response to hypoxia|cellular response to ionizing radiation|cellular response to UV|determination of adult lifespan|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|ER overload response|interspecies interaction between organisms|negative regulation of apoptosis|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of helicase activity|negative regulation of transcription from RNA polymerase II promoter|nucleotide-excision repair|oxidative stress-induced premature senescence|positive regulation of histone deacetylation|positive regulation of neuron apoptosis|positive regulation of peptidyl-tyrosine phosphorylation|positive regulation of reactive oxygen species metabolic process|positive regulation of thymocyte apoptosis|positive regulation of transcription from RNA polymerase II promoter|protein localization|protein tetramerization|Ras protein signal transduction|regulation of mitochondrial membrane permeability|replicative senescence|response to antibiotic|response to gamma radiation|response to X-ray cytoplasm|cytosol|endoplasmic reticulum|insoluble fraction|mitochondrion|nuclear chromatin|nuclear matrix|nucleolus|nucleus|PML body|protein complex|replication fork ATP binding|chaperone binding|chromatin binding|copper ion binding|damaged DNA binding|DNA strand annealing activity|histone acetyltransferase binding|p53 binding|protease binding|protein binding|protein heterodimerization activity|protein kinase binding|protein N-terminus binding|protein phosphatase 2A binding|RNA polymerase II transcription factor binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|transcription repressor activity|ubiquitin protein ligase binding|zinc ion binding p.R181C(19)|p.0?(8)|p.P177_C182delPHHERC(8)|p.R174fs*24(3)|p.C176_R181delCPHHER(3)|p.H178_S183delHHERCS(3)|p.P177fs*3(2)|p.R49C(2)|p.R88C(2)|p.V173fs*59(2)|p.C176fs*65(1)|p.R181G(1)|p.H85_S90delHHERCS(1)|p.E180_S183del(1)|p.R174fs*3(1)|p.E171fs*61(1)|p.V173fs*23(1)|p.R81fs*24(1)|p.R181>XXXXXXX(1)|p.H46_S51delHHERCS(1)|p.R42fs*24(1) NS(16)|adrenal_gland(37)|autonomic_ganglia(16)|biliary_tract(273)|bone(108)|breast(2530)|central_nervous_system(1264)|cervix(68)|endometrium(223)|eye(24)|fallopian_tube(1)|gastrointestinal_tract_(site_indeterminate)(1)|genital_tract(16)|haematopoietic_and_lymphoid_tissue(1301)|kidney(96)|large_intestine(5124)|liver(897)|lung(2388)|meninges(5)|oesophagus(1473)|ovary(1659)|pancreas(452)|penis(10)|peritoneum(33)|pituitary(4)|placenta(1)|pleura(3)|prostate(235)|salivary_gland(43)|skin(791)|small_intestine(14)|soft_tissue(220)|stomach(1158)|testis(11)|thymus(21)|thyroid(54)|upper_aerodigestive_tract(2271)|urinary_tract(1259)|vagina(6)|vulva(79) 24185 all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081) GBM - Glioblastoma multiforme(2;1.59e-06)|READ - Rectum adenocarcinoma(115;0.174) TCTGAGCAGCGCTCATGGTGG 0.637000 111 """Mis, N, F""" """breast, colorectal, lung, sarcoma, adrenocortical, glioma, multiple other tumour types""" """breast, sarcoma, adrenocortical carcinoma, glioma, multiple other tumour types""" Other conserved DNA damage response genes Osteosarcoma, Familial Clustering of;Li-Fraumeni syndrome;Hereditary Breast-Ovarian Cancer, non-BRCA1/2;Hereditary Adrenocortical Cancer;Endometrial Cancer, Familial Clustering of HNSCC(1;<9.43e-08)|TCGA GBM(1;<1E-08)|TSP Lung(2;<1E-08)|TCGA Ovarian(1;<1.89e-07)|Multiple Myeloma(5;0.019) 6 45 0 0 1 0 0 MUC16 94025 broad.mit.edu 37 19 9059816 9059816 + Missense_Mutation SNP T T C TCGA-V1-A8MJ-01A-11D-A364-08 TCGA-V1-A8MJ-10A-01D-A362-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1613b958-7660-4968-b373-04b00f3f47c3 80182c4a-c41d-454a-bd5a-62ba971b8050 g.chr19:9059816T>C ENST00000397910.4 - 3 27833 c.27630A>G c.(27628-27630)atA>atG p.I9210M NM_024690.2 NP_078966.2 Q8WXI7 MUC16_HUMAN mucin 16, cell surface associated 9212 Ser-rich.|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 TGATGGCCAGTATTTCAGCTG 0.488000 3 42 0 0 1 0 0 TTN 7273 broad.mit.edu 37 2 179403722 179403722 + Silent SNP C C T TCGA-V1-A8MJ-01A-11D-A364-08 TCGA-V1-A8MJ-10A-01D-A362-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1613b958-7660-4968-b373-04b00f3f47c3 80182c4a-c41d-454a-bd5a-62ba971b8050 g.chr2:179403722C>T ENST00000589042.1 - 353 99164 c.98940G>A c.(98938-98940)ctG>ctA p.L32980L TTN-AS1_ENST00000592689.1_RNA|TTN-AS1_ENST00000592600.1_RNA|TTN-AS1_ENST00000589434.1_RNA|TTN-AS1_ENST00000591332.1_RNA|TTN-AS1_ENST00000592630.1_RNA|TTN_ENST00000591111.1_Silent_p.L31339L|TTN-AS1_ENST00000590807.1_RNA|TTN-AS1_ENST00000456053.1_RNA|TTN-AS1_ENST00000590040.1_RNA|TTN_ENST00000342992.6_Silent_p.L30412L|TTN_ENST00000460472.2_Silent_p.L23915L|TTN_ENST00000359218.5_Silent_p.L24040L|TTN-AS1_ENST00000585451.1_RNA|TTN-AS1_ENST00000586452.1_RNA|TTN-AS1_ENST00000419746.1_RNA|TTN-AS1_ENST00000586707.1_RNA|TTN-AS1_ENST00000586831.1_RNA|TTN-AS1_ENST00000592750.1_RNA|TTN_ENST00000342175.6_Silent_p.L24107L NM_001267550.1 NP_001254479.1 Q8WZ42 TITIN_HUMAN titin 31339 ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26) 1448 OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134) TGGTCTCACTCAGGCCAACAT 0.458000 7 31 0 0 1 0 0 DNM1P47 0 broad.mit.edu 37 15 102292785 102292785 + RNA SNP C C G rs61084368 TCGA-V1-A8MJ-01A-11D-A364-08 TCGA-V1-A8MJ-10A-01D-A362-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1613b958-7660-4968-b373-04b00f3f47c3 80182c4a-c41d-454a-bd5a-62ba971b8050 g.chr15:102292785C>G ENST00000561463.1 + 0 831 p.Q125E(1) TGCTGCTTCTCAGAGCTGCTG 0.602000 3 25 0 0 1 0 0 NLRP12 91662 broad.mit.edu 37 19 54314477 54314477 + Missense_Mutation SNP G G A TCGA-V1-A8MJ-01A-11D-A364-08 TCGA-V1-A8MJ-10A-01D-A362-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1613b958-7660-4968-b373-04b00f3f47c3 80182c4a-c41d-454a-bd5a-62ba971b8050 g.chr19:54314477G>A ENST00000324134.6 - 3 604 c.436C>T c.(436-438)Cgc>Tgc p.R146C NLRP12_ENST00000391773.1_Missense_Mutation_p.R146C|NLRP12_ENST00000535162.1_Missense_Mutation_p.R146C|NLRP12_ENST00000391772.1_Missense_Mutation_p.R146C|NLRP12_ENST00000391775.3_Missense_Mutation_p.R146C|NLRP12_ENST00000354278.3_Missense_Mutation_p.R146C|NLRP12_ENST00000351894.4_Missense_Mutation_p.R146C|NLRP12_ENST00000345770.5_Missense_Mutation_p.R146C NM_001277126.1|NM_144687.2 NP_001264055.1|NP_653288.1 P59046 NAL12_HUMAN NLR family, pyrin domain containing 12 146 negative regulation of I-kappaB kinase/NF-kappaB cascade|negative regulation of interleukin-1 secretion|negative regulation of interleukin-6 biosynthetic process|negative regulation of protein autophosphorylation|negative regulation of Toll signaling pathway|positive regulation of inflammatory response|positive regulation of interleukin-1 beta secretion|regulation of interleukin-18 biosynthetic process|release of cytoplasmic sequestered NF-kappaB cytoplasm ATP binding|caspase activator activity|protein binding NS(1)|breast(4)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(17)|liver(1)|lung(36)|ovary(5)|pancreas(2)|skin(3)|upper_aerodigestive_tract(5)|urinary_tract(1) 80 Ovarian(34;0.19) GBM - Glioblastoma multiforme(134;0.026) TCCCCTAGGCGCGCATTGCGG 0.572000 13 77 0 0 1 0 0 FAT4 79633 broad.mit.edu 37 4 126411435 126411435 + Silent SNP G G C TCGA-V1-A8MJ-01A-11D-A364-08 TCGA-V1-A8MJ-10A-01D-A362-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1613b958-7660-4968-b373-04b00f3f47c3 80182c4a-c41d-454a-bd5a-62ba971b8050 g.chr4:126411435G>C ENST00000394329.3 + 17 13471 c.13458G>C c.(13456-13458)ggG>ggC p.G4486G FAT4_ENST00000335110.5_Silent_p.G2727G NM_024582.4 NP_078858.4 Q6V0I7 FAT4_HUMAN FAT atypical cadherin 4 4486 homophilic cell adhesion integral to membrane|plasma membrane calcium ion binding p.G4429G(1)|p.G4486G(1) NS(6)|autonomic_ganglia(1)|breast(4)|central_nervous_system(3)|cervix(3)|endometrium(27)|haematopoietic_and_lymphoid_tissue(3)|kidney(10)|large_intestine(93)|liver(3)|lung(120)|ovary(9)|pancreas(2)|prostate(21)|skin(31)|stomach(1)|upper_aerodigestive_tract(12)|urinary_tract(6) 355 GTCCTGCGGGGCATGTCTGTG 0.622000 7 43 0 0 1 0 0 DNAH3 55567 broad.mit.edu 37 16 20974749 20974749 + Missense_Mutation SNP G G A TCGA-V1-A8MJ-01A-11D-A364-08 TCGA-V1-A8MJ-10A-01D-A362-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1613b958-7660-4968-b373-04b00f3f47c3 80182c4a-c41d-454a-bd5a-62ba971b8050 g.chr16:20974749G>A ENST00000261383.3 - 53 10456 c.10457C>T c.(10456-10458)cCa>cTa p.P3486L DNAH3_ENST00000415178.1_3'UTR NM_017539.1 NP_060009.1 Q8TD57 DYH3_HUMAN dynein, axonemal, heavy chain 3 3486 ciliary or flagellar motility|microtubule-based movement axonemal dynein complex|cilium axoneme|cytoplasm|microtubule ATP binding|microtubule motor activity NS(3)|autonomic_ganglia(1)|breast(12)|central_nervous_system(3)|cervix(2)|endometrium(15)|haematopoietic_and_lymphoid_tissue(4)|kidney(10)|large_intestine(42)|liver(2)|lung(57)|ovary(14)|pancreas(1)|prostate(7)|skin(11)|stomach(5)|upper_aerodigestive_tract(7)|urinary_tract(6) 202 GBM - Glioblastoma multiforme(48;0.207) CCGGACCGCTGGCACCATTTT 0.532000 3 31 0 0 1 0 0 RPH3A 22895 broad.mit.edu 37 12 113307699 113307699 + Splice_Site SNP C C A TCGA-V1-A8MJ-01A-11D-A364-08 TCGA-V1-A8MJ-10A-01D-A362-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1613b958-7660-4968-b373-04b00f3f47c3 80182c4a-c41d-454a-bd5a-62ba971b8050 g.chr12:113307699C>A ENST00000389385.4 + 10 1148 c.649_splice c.e10-1 p.G217_splice RPH3A_ENST00000551052.1_Splice_Site_p.G213_splice|RPH3A_ENST00000543106.2_Splice_Site_p.G217_splice|RPH3A_ENST00000548866.1_Splice_Site_p.G168_splice|RPH3A_ENST00000420983.2_Splice_Site_p.G217_splice|RPH3A_ENST00000447659.2_Splice_Site_p.G168_splice|RPH3A_ENST00000415485.3_Splice_Site_p.G217_splice|RPH3A_ENST00000549913.2_3'UTR NM_001143854.1|NM_014954.3 NP_001137326.1|NP_055769.2 Q9Y2J0 RP3A_HUMAN rabphilin 3A homolog (mouse) 217 Pro-rich. intracellular protein transport cell junction|synaptic vesicle Rab GTPase binding|transporter activity|zinc ion binding breast(1)|central_nervous_system(3)|cervix(2)|endometrium(2)|kidney(1)|large_intestine(8)|lung(16)|ovary(3)|prostate(4)|skin(6)|urinary_tract(1) 47 BRCA - Breast invasive adenocarcinoma(302;0.00453) TCTTTCCAGGCCCTGACCCAG 0.547000 7 38 0.27861 0.289755 1 1 0 SLC30A8 169026 broad.mit.edu 37 8 118169934 118169934 + Silent SNP C C T TCGA-V1-A8MJ-01A-11D-A364-08 TCGA-V1-A8MJ-10A-01D-A362-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1613b958-7660-4968-b373-04b00f3f47c3 80182c4a-c41d-454a-bd5a-62ba971b8050 g.chr8:118169934C>T ENST00000427715.2 + 7 710 c.276C>T c.(274-276)atC>atT p.I92I SLC30A8_ENST00000521243.1_Silent_p.I92I|SLC30A8_ENST00000519688.1_Silent_p.I92I|SLC30A8_ENST00000456015.2_Silent_p.I141I NM_001172813.1|NM_001172815.1 NP_001166284.1|NP_001166286.1 Q8IWU4 ZNT8_HUMAN solute carrier family 30 (zinc transporter), member 8 141 insulin secretion|positive regulation of insulin secretion|regulation of sequestering of zinc ion|regulation of vesicle-mediated transport|response to glucose stimulus|sequestering of zinc ion integral to membrane|plasma membrane|secretory granule membrane|transport vesicle membrane protein homodimerization activity|zinc ion transmembrane transporter activity breast(1)|endometrium(2)|large_intestine(9)|liver(2)|lung(18)|ovary(2)|pancreas(2)|skin(5) 41 all_cancers(13;2.11e-22)|Lung NSC(37;6.08e-05)|Ovarian(258;0.0173) STAD - Stomach adenocarcinoma(47;0.203) TCCTAGAGATCCTTGGTGCCC 0.527000 13 103 0 0 1 0 0 TOR3A 64222 broad.mit.edu 37 1 179064325 179064325 + Missense_Mutation SNP C C T TCGA-V1-A8MJ-01A-11D-A364-08 TCGA-V1-A8MJ-10A-01D-A362-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1613b958-7660-4968-b373-04b00f3f47c3 80182c4a-c41d-454a-bd5a-62ba971b8050 g.chr1:179064325C>T ENST00000367627.3 + 6 1918 c.1166C>T c.(1165-1167)tCc>tTc p.S389F TOR3A_ENST00000352445.6_Intron NM_022371.3 NP_071766.2 Q9H497 TOR3A_HUMAN torsin family 3, member A 389 chaperone mediated protein folding requiring cofactor endoplasmic reticulum ATP binding endometrium(1)|kidney(2)|large_intestine(4)|lung(4)|pancreas(1)|urinary_tract(1) 13 AAGTCTATTTCCCAGAGGATT 0.493000 8 131 0 0 1 0 0 HSPG2 3339 broad.mit.edu 37 1 22170669 22170669 + Missense_Mutation SNP C C T TCGA-V1-A8MJ-01A-11D-A364-08 TCGA-V1-A8MJ-10A-01D-A362-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1613b958-7660-4968-b373-04b00f3f47c3 80182c4a-c41d-454a-bd5a-62ba971b8050 g.chr1:22170669C>T ENST00000374695.3 - 65 8667 c.8588G>A c.(8587-8589)cGt>cAt p.R2863H NM_005529.5 NP_005520.4 P98160 PGBM_HUMAN heparan sulfate proteoglycan 2 2863 Ig-like C2-type 14. angiogenesis|cell adhesion|lipid metabolic process|lipoprotein metabolic process basement membrane|extracellular space|plasma membrane protein C-terminus binding breast(6)|central_nervous_system(1)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(2)|kidney(9)|large_intestine(15)|liver(1)|lung(44)|ovary(10)|pancreas(1)|prostate(10)|skin(9)|upper_aerodigestive_tract(3)|urinary_tract(3) 127 Colorectal(325;3.46e-05)|all_lung(284;7.93e-05)|Lung NSC(340;8.71e-05)|Renal(390;0.000219)|Breast(348;0.00222)|Ovarian(437;0.00308)|Myeloproliferative disorder(586;0.0255) UCEC - Uterine corpus endometrioid carcinoma (279;0.0498)|OV - Ovarian serous cystadenocarcinoma(117;1.14e-26)|Colorectal(126;4.18e-07)|COAD - Colon adenocarcinoma(152;1.82e-05)|GBM - Glioblastoma multiforme(114;3.13e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000756)|STAD - Stomach adenocarcinoma(196;0.00656)|KIRC - Kidney renal clear cell carcinoma(1967;0.00942)|READ - Rectum adenocarcinoma(331;0.0721)|Lung(427;0.223) Becaplermin(DB00102)|Palifermin(DB00039) GTTTCCTCCACGCTTGTGCCA 0.642000 6 37 0 0 1 0 0 SWSAP1 126074 broad.mit.edu 37 19 11486247 11486247 + Missense_Mutation SNP C C A TCGA-V1-A8MJ-01A-11D-A364-08 TCGA-V1-A8MJ-10A-01D-A362-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1613b958-7660-4968-b373-04b00f3f47c3 80182c4a-c41d-454a-bd5a-62ba971b8050 g.chr19:11486247C>A ENST00000312423.2 + 2 304 c.245C>A c.(244-246)gCc>gAc p.A82D NM_175871.3 NP_787067.2 Q6NVH7 CS039_HUMAN SWIM-type zinc finger 7 associated protein 1 82 CTGTGCTCTGCCCATGAGGCC 0.612000 4 108 1 1 1 1 0 AC024560.3 0 broad.mit.edu 37 3 197348739 197348739 + RNA SNP G G C TCGA-V1-A8MJ-01A-11D-A364-08 TCGA-V1-A8MJ-10A-01D-A362-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1613b958-7660-4968-b373-04b00f3f47c3 80182c4a-c41d-454a-bd5a-62ba971b8050 g.chr3:197348739G>C ENST00000418868.1 - 0 520 NR_003266.2 TAATTTTCTAGCTGTGAAAGA 0.398000 4 52 0 0 1 0 0 OR5M1 390168 broad.mit.edu 37 11 56380683 56380683 + Missense_Mutation SNP G G A TCGA-V1-A8MJ-01A-11D-A364-08 TCGA-V1-A8MJ-10A-01D-A362-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1613b958-7660-4968-b373-04b00f3f47c3 80182c4a-c41d-454a-bd5a-62ba971b8050 g.chr11:56380683G>A ENST00000526538.1 - 1 295 c.296C>T c.(295-297)aCa>aTa p.T99I NM_001004740.1 NP_001004740.1 Q8NGP8 OR5M1_HUMAN olfactory receptor, family 5, subfamily M, member 1 99 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity central_nervous_system(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|lung(7)|upper_aerodigestive_tract(1) 12 AAGACACTGTGTGAAGCATCC 0.443000 4 42 0 0 1 0 0 DISC1 27185 broad.mit.edu 37 1 231906802 231906802 + Frame_Shift_Del DEL G G - rs148583596 TCGA-V1-A8MJ-01A-11D-A364-08 TCGA-V1-A8MJ-10A-01D-A362-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1613b958-7660-4968-b373-04b00f3f47c3 80182c4a-c41d-454a-bd5a-62ba971b8050 g.chr1:231906802delG ENST00000439617.2 + 6 1673 c.1620delG c.(1618-1620)ccfs p.P540fs DISC1_ENST00000537876.1_Frame_Shift_Del_p.P540fs|DISC1_ENST00000539444.1_Frame_Shift_Del_p.P540fs|DISC1_ENST00000602873.1_Frame_Shift_Del_p.P190fs|DISC1_ENST00000366637.3_5'UTR|DISC1_ENST00000535983.1_Frame_Shift_Del_p.P540fs|TRAX_ENST00000602962.1_3'UTR|DISC1_ENST00000602281.1_Frame_Shift_Del_p.P540fs|DISC1_ENST00000366636.4_Frame_Shift_Del_p.P540fs|DISC1_ENST00000366633.3_Frame_Shift_Del_p.P540fs NM_001164537.1|NM_001164540.1|NM_018662.2 NP_001158009.1|NP_001158012.1|NP_061132.2 Q9NRI5 DISC1_HUMAN disrupted in schizophrenia 1 540 Interaction with TRAF3IP1.|Necessary and sufficient for interaction with PCNT and localization at the centrosome.|Required for localization to punctate cytoplasmic foci. microtubule cytoskeleton organization|neuron migration|positive regulation of neuroblast proliferation|positive regulation of Wnt receptor signaling pathway|Wnt receptor signaling pathway centrosome|microtubule protein binding breast(1)|cervix(1)|kidney(1)|large_intestine(1)|liver(2)|lung(6)|skin(2)|upper_aerodigestive_tract(1) 15 all_cancers(173;0.0208)|Prostate(94;0.0975) CAGAGCCACCGGAAACCATAA 0.537 2 4 --- --- --- --- TULP1 7287 broad.mit.edu 37 6 35471404 35471404 + Frame_Shift_Del DEL G G - TCGA-V1-A8MJ-01A-11D-A364-08 TCGA-V1-A8MJ-10A-01D-A362-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1613b958-7660-4968-b373-04b00f3f47c3 80182c4a-c41d-454a-bd5a-62ba971b8050 g.chr6:35471404delG ENST00000229771.6 - 13 1334 c.1255delC c.(1255-1257)ggfs p.R420fs TULP1_ENST00000322263.4_Frame_Shift_Del_p.R367fs NM_003322.3 NP_003313.3 O00294 TULP1_HUMAN tubby like protein 1 420 R -> P (in RP14; no effect on RPE phagocytosis). dendrite development|eye photoreceptor cell development|phagocytosis|photoreceptor cell maintenance|positive regulation of phagocytosis cell junction|cytoplasm|extracellular region|photoreceptor inner segment|photoreceptor outer segment|synapse actin filament binding|phosphatidylinositol-4,5-bisphosphate binding p.R419W(1) central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(2)|lung(5)|ovary(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1) 19 GTCATGCGCCGGGGGCCACGG 0.662 2 4 --- --- --- --- POLR1C 9533 broad.mit.edu 37 6 43497088 43497089 + Frame_Shift_Ins INS - - T rs143794012 by1000genomes TCGA-V1-A8MJ-01A-11D-A364-08 TCGA-V1-A8MJ-10A-01D-A362-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1613b958-7660-4968-b373-04b00f3f47c3 80182c4a-c41d-454a-bd5a-62ba971b8050 g.chr6:43497088_43497089insT ENST00000304004.3 + 9 1045_1046 c.1024_1025insT c.(1024-1026)ctafs p.L342fs XPO5_ENST00000265351.7_Intron O15160 RPAC1_HUMAN polymerase (RNA) I polypeptide C, 30kDa 0 termination of RNA polymerase I transcription|transcription elongation from RNA polymerase I promoter|transcription initiation from RNA polymerase I promoter DNA-directed RNA polymerase I complex|nucleoplasm DNA binding|DNA-directed RNA polymerase activity|protein dimerization activity kidney(1)|large_intestine(2)|lung(1)|prostate(1) 5 all_cancers(18;3.79e-05)|Lung NSC(15;0.00217)|all_lung(25;0.00536) Colorectal(64;0.00245)|all cancers(41;0.00511)|COAD - Colon adenocarcinoma(64;0.00536)|OV - Ovarian serous cystadenocarcinoma(102;0.0711) agaccatcctggctaacatggt 0.495 4 3 --- --- --- --- RP11-377D9.3 0 broad.mit.edu 37 12 13174141 13174142 + RNA INS - - AACAAC rs112328257 by1000genomes TCGA-V1-A8MJ-01A-11D-A364-08 TCGA-V1-A8MJ-10A-01D-A362-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1613b958-7660-4968-b373-04b00f3f47c3 80182c4a-c41d-454a-bd5a-62ba971b8050 g.chr12:13174141_13174142insAACAAC ENST00000543321.1 + 0 1025 tctgtctcaaaaacaacaacaa 0.550 2 4 --- --- --- --- RP4-777D9.2 0 broad.mit.edu 37 20 21146805 21146805 + RNA DEL G G - TCGA-V1-A8MJ-01A-11D-A364-08 TCGA-V1-A8MJ-10A-01D-A362-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1613b958-7660-4968-b373-04b00f3f47c3 80182c4a-c41d-454a-bd5a-62ba971b8050 g.chr20:21146805delG ENST00000591761.1 - 0 5051 PLK1S1_ENST00000457464.1_RNA TTTTTTTTTTGTCCATGAGGC 0.383 2 4 --- --- --- ---