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 ACHILLES_Top_Genes 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_status validation_method validation_tumor_sample validation_alt_allele pox qox pox_cutoff isArtifactMode oxoGCut TAS1R3 83756 broad.mit.edu 37 1 1268436 1268436 + Missense_Mutation SNP G G C TCGA-78-7143-01A-11D-2036-08 TCGA-78-7143-10A-01D-2036-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq b710996c-8d35-4a2c-bc51-389b3e35b0f3 11e7f779-f338-41d4-914d-19f50cc524c3 g.chr1:1268436G>C uc010nyk.1 + 4 1411 c.1411G>C c.(1411-1413)GTG>CTG p.V471L NM_152228 NP_689414 Q7RTX0 TS1R3_HUMAN taste receptor, type 1, member 3 precursor 471 Extracellular (Potential). detection of chemical stimulus involved in sensory perception of sweet taste|sensory perception of umami taste plasma membrane protein heterodimerization activity|taste receptor activity 0 all_cancers(77;0.00164)|all_epithelial(69;0.000959)|all_lung(157;0.00963)|Lung NSC(156;0.0232)|Ovarian(185;0.0634) all_epithelial(116;9.48e-15)|all_lung(118;9.67e-07)|Lung NSC(185;5.59e-05)|Renal(390;0.00571)|Breast(487;0.0183)|Hepatocellular(190;0.0268)|Myeloproliferative disorder(586;0.028)|Ovarian(437;0.127)|Lung SC(97;0.217) Epithelial(90;3.01e-35)|OV - Ovarian serous cystadenocarcinoma(86;3.88e-21)|Colorectal(212;0.000157)|COAD - Colon adenocarcinoma(227;0.000193)|Kidney(185;0.00229)|BRCA - Breast invasive adenocarcinoma(365;0.00251)|STAD - Stomach adenocarcinoma(132;0.00644)|KIRC - Kidney renal clear cell carcinoma(229;0.034)|Lung(427;0.146) Aspartame(DB00168) GCTCCACGACGTGGGCAGGTT 0.662 NA 9 38 0 0 0.004482 0 0 DFFA 1676 broad.mit.edu 37 1 10523219 10523219 + Missense_Mutation SNP T T C TCGA-78-7143-01A-11D-2036-08 TCGA-78-7143-10A-01D-2036-08 T T - - T T Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq b710996c-8d35-4a2c-bc51-389b3e35b0f3 11e7f779-f338-41d4-914d-19f50cc524c3 g.chr1:10523219T>C uc001arj.2 - 5 777 c.679A>G c.(679-681)ATC>GTC p.I227V DFFA_uc001ark.2_Missense_Mutation_p.I227V NM_004401 NP_004392 O00273 DFFA_HUMAN DNA fragmentation factor, 45kDa, alpha 227 DNA fragmentation involved in apoptotic nuclear change|intracellular signal transduction|negative regulation of apoptosis cytosol|mitochondrion|nucleoplasm|plasma membrane deoxyribonuclease activity|identical protein binding 0 Ovarian(185;0.203) all_lung(284;1.31e-05)|Lung NSC(185;2.19e-05)|Renal(390;0.000147)|Breast(348;0.00093)|Colorectal(325;0.00205)|Hepatocellular(190;0.00913)|Ovarian(437;0.0228)|Myeloproliferative disorder(586;0.0255) UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;3.25e-07)|COAD - Colon adenocarcinoma(227;7.25e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000296)|Kidney(185;0.00074)|KIRC - Kidney renal clear cell carcinoma(229;0.00258)|STAD - Stomach adenocarcinoma(132;0.0167)|READ - Rectum adenocarcinoma(331;0.0487) TCTCTGCTGATACCCGTGTCT 0.552 NA 15 25 0 0 0.003163 0 0 MACF1 23499 broad.mit.edu 37 1 39853047 39853047 + Nonsense_Mutation SNP C C T TCGA-78-7143-01A-11D-2036-08 TCGA-78-7143-10A-01D-2036-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq b710996c-8d35-4a2c-bc51-389b3e35b0f3 11e7f779-f338-41d4-914d-19f50cc524c3 g.chr1:39853047C>T uc010oiu.1 + 22 9984 c.9853C>T c.(9853-9855)CAA>TAA p.Q3285* MACF1_uc010ois.1_Nonsense_Mutation_p.Q2783*|MACF1_uc001cda.1_Nonsense_Mutation_p.Q2670*|MACF1_uc001cdc.1_Nonsense_Mutation_p.Q1849* NM_033044 NP_149033 Q9UPN3 MACF1_HUMAN microfilament and actin filament cross-linker 4850 Spectrin 4. 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 ovary(8)|breast(3)|central_nervous_system(3)|skin(2) 16 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) AAGTCTTAATCAACACAGTGG 0.433 NA 15 144 0 0 0.004007 0 0 MIA3 375056 broad.mit.edu 37 1 222802129 222802129 + Missense_Mutation SNP G G A TCGA-78-7143-01A-11D-2036-08 TCGA-78-7143-10A-01D-2036-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq b710996c-8d35-4a2c-bc51-389b3e35b0f3 11e7f779-f338-41d4-914d-19f50cc524c3 g.chr1:222802129G>A uc001hnl.2 + 4 1576 c.1567G>A c.(1567-1569)GAT>AAT p.D523N MIA3_uc009xea.1_Missense_Mutation_p.D359N NM_198551 NP_940953 Q5JRA6 MIA3_HUMAN melanoma inhibitory activity family, member 3 523 Potential.|Extracellular (Potential). exocytosis|negative regulation of cell adhesion|negative regulation of cell migration|positive regulation of leukocyte migration|protein transport|wound healing endoplasmic reticulum membrane|integral to membrane protein binding ovary(4)|central_nervous_system(1) 5 GBM - Glioblastoma multiforme(131;0.0199) AGCTTATGATGATACAGAAAA 0.423 NA 16 153 0 0 0.004007 0 0 OBSCN 84033 broad.mit.edu 37 1 228471293 228471293 + Missense_Mutation SNP G G A TCGA-78-7143-01A-11D-2036-08 TCGA-78-7143-10A-01D-2036-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq b710996c-8d35-4a2c-bc51-389b3e35b0f3 11e7f779-f338-41d4-914d-19f50cc524c3 g.chr1:228471293G>A uc009xez.1 + 33 8871 c.8827G>A c.(8827-8829)GCG>ACG p.A2943T OBSCN_uc001hsn.2_Missense_Mutation_p.A2943T|OBSCN_uc001hsp.1_Missense_Mutation_p.A642T|OBSCN_uc001hsq.1_Missense_Mutation_p.A199T NM_001098623 NP_001092093 Q5VST9 OBSCN_HUMAN obscurin, cytoskeletal calmodulin and 2943 Ig-like 29. apoptosis|cell differentiation|induction of apoptosis by extracellular signals|multicellular organismal development|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction cytosol|M band|Z disc ATP binding|metal ion binding|protein binding|protein serine/threonine kinase activity|protein tyrosine kinase activity|Rho guanyl-nucleotide exchange factor activity|structural constituent of muscle|titin binding stomach(8)|large_intestine(7)|breast(5)|ovary(4)|skin(2)|central_nervous_system(1)|pancreas(1) 28 Prostate(94;0.0405) GGAGCACCCCGCGGCCACAGT 0.632 NA 6 38 0 0 0.021553 0 0 SLIT1 6585 broad.mit.edu 37 10 98770874 98770874 + Missense_Mutation SNP G G T TCGA-78-7143-01A-11D-2036-08 TCGA-78-7143-10A-01D-2036-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq b710996c-8d35-4a2c-bc51-389b3e35b0f3 11e7f779-f338-41d4-914d-19f50cc524c3 g.chr10:98770874G>T uc001kmw.2 - 31 3469 c.3217C>A c.(3217-3219)CCA>ACA p.P1073T NM_003061 NP_003052 O75093 SLIT1_HUMAN slit homolog 1 precursor 1073 EGF-like 4. axon extension involved in axon guidance|forebrain morphogenesis|motor axon guidance|negative chemotaxis|negative regulation of synaptogenesis cytoplasm|extracellular space calcium ion binding|Roundabout binding ovary(4) 4 Colorectal(252;0.162) Epithelial(162;2.02e-08)|all cancers(201;1.5e-06) GCATAACCTGGCATGCACTCA 0.612 NA 14 23 4.36969e-10 4.68749e-10 0.016723 1 0 DMBT1 1755 broad.mit.edu 37 10 124399750 124399750 + Silent SNP T T C TCGA-78-7143-01A-11D-2036-08 TCGA-78-7143-10A-01D-2036-08 T T - - T T Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq b710996c-8d35-4a2c-bc51-389b3e35b0f3 11e7f779-f338-41d4-914d-19f50cc524c3 g.chr10:124399750T>C uc001lgk.1 + 52 6856 c.6750T>C c.(6748-6750)TAT>TAC p.Y2250Y DMBT1_uc001lgl.1_Silent_p.Y2240Y|DMBT1_uc001lgm.1_Silent_p.Y1622Y|DMBT1_uc009xzz.1_Silent_p.Y2249Y|DMBT1_uc010qtx.1_Silent_p.Y970Y|DMBT1_uc009yab.1_Silent_p.Y953Y|DMBT1_uc009yac.1_Silent_p.Y544Y NM_007329 NP_015568 Q9UGM3 DMBT1_HUMAN deleted in malignant brain tumors 1 isoform b 2250 ZP. epithelial cell differentiation|induction of bacterial agglutination|innate immune response|interspecies interaction between organisms|protein transport|response to virus extrinsic to membrane|phagocytic vesicle membrane|zymogen granule membrane calcium-dependent protein binding|Gram-negative bacterial cell surface binding|Gram-positive bacterial cell surface binding|pattern recognition receptor activity|scavenger receptor activity|zymogen binding central_nervous_system(7) 7 all_neural(114;0.0765)|Lung NSC(174;0.132)|all_lung(145;0.163)|Breast(234;0.238) AAGTCCAGTATGGCAATTTTG 0.473 Ovarian(182;93 2026 18125 22222 38972) NA 58 84 0 0 0.01441 0 0 MYO7A 4647 broad.mit.edu 37 11 76905531 76905531 + Missense_Mutation SNP G G C TCGA-78-7143-01A-11D-2036-08 TCGA-78-7143-10A-01D-2036-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq b710996c-8d35-4a2c-bc51-389b3e35b0f3 11e7f779-f338-41d4-914d-19f50cc524c3 g.chr11:76905531G>C uc001oyb.2 + 32 4557 c.4285G>C c.(4285-4287)GAG>CAG p.E1429Q MYO7A_uc010rsm.1_Missense_Mutation_p.E1418Q|MYO7A_uc001oyc.2_Missense_Mutation_p.E1429Q|MYO7A_uc009yus.1_RNA|MYO7A_uc009yut.1_Missense_Mutation_p.E640Q NM_000260 NP_000251 Q13402 MYO7A_HUMAN myosin VIIA isoform 1 1429 FERM 1. actin filament-based movement|equilibrioception|lysosome organization|sensory perception of sound|visual perception cytosol|lysosomal membrane|myosin complex|photoreceptor inner segment|photoreceptor outer segment|synapse actin binding|ATP binding|calmodulin binding|microfilament motor activity ovary(3)|breast(1) 4 GAAGACGCTGGAGAAGTGGGC 0.592 NA 4 13 0 0 0.009096 0 0 FAT3 120114 broad.mit.edu 37 11 92523337 92523337 + Missense_Mutation SNP G G A TCGA-78-7143-01A-11D-2036-08 TCGA-78-7143-10A-01D-2036-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq b710996c-8d35-4a2c-bc51-389b3e35b0f3 11e7f779-f338-41d4-914d-19f50cc524c3 g.chr11:92523337G>A uc001pdj.3 + 7 4581 c.4564G>A c.(4564-4566)GAG>AAG p.E1522K NM_001008781 NP_001008781 Q8TDW7 FAT3_HUMAN FAT tumor suppressor homolog 3 1522 Cadherin 14.|Extracellular (Potential). homophilic cell adhesion|multicellular organismal development integral to membrane|plasma membrane calcium ion binding ovary(4)|pancreas(1) 5 Acute lymphoblastic leukemia(157;3.01e-05)|all_hematologic(158;0.00858) CTATACTGCCGAGAGGCTGGA 0.498 NA TCGA Ovarian(4;0.039) 14 134 0 0 0.016723 0 0 SMUG1 23583 broad.mit.edu 37 12 54576152 54576152 + Missense_Mutation SNP C C T TCGA-78-7143-01A-11D-2036-08 TCGA-78-7143-10A-01D-2036-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq b710996c-8d35-4a2c-bc51-389b3e35b0f3 11e7f779-f338-41d4-914d-19f50cc524c3 g.chr12:54576152C>T uc001sff.1 - 4 670 c.541G>A c.(541-543)GAG>AAG p.E181K SMUG1_uc001sfa.1_RNA|SMUG1_uc001sfe.1_3'UTR|SMUG1_uc001sfg.1_Missense_Mutation_p.E181K|SMUG1_uc009znf.1_Missense_Mutation_p.E181K|SMUG1_uc001sfb.3_Intron|SMUG1_uc001sfc.3_Intron|SMUG1_uc001sfd.3_Intron NM_014311 NP_055126 Q53HV7 SMUG1_HUMAN single-strand-selective monofunctional 181 DNA binding (By similarity). depyrimidination nucleolus|nucleoplasm DNA binding|protein binding|single-strand selective uracil DNA N-glycosylase activity 0 GCAGGCAGCTCAGCAGGAGTA 0.602 NA BER_DNA_glycosylases 11 86 0 0 0.010729 0 0 ANKLE2 23141 broad.mit.edu 37 12 133311158 133311158 + Silent SNP C C T TCGA-78-7143-01A-11D-2036-08 TCGA-78-7143-10A-01D-2036-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq b710996c-8d35-4a2c-bc51-389b3e35b0f3 11e7f779-f338-41d4-914d-19f50cc524c3 g.chr12:133311158C>T uc001ukx.2 - 10 1771 c.1704G>A c.(1702-1704)GAG>GAA p.E568E ANKLE2_uc009zyw.1_5'UTR|ANKLE2_uc001uky.3_Silent_p.E506E NM_015114 NP_055929 Q86XL3 ANKL2_HUMAN ankyrin repeat and LEM domain containing 2 568 cytoplasm|integral to membrane|nuclear envelope 0 all_neural(191;0.0982)|Medulloblastoma(191;0.163) all_epithelial(31;0.0176)|Lung NSC(355;0.204) OV - Ovarian serous cystadenocarcinoma(86;2.3e-08)|Epithelial(86;1.56e-07)|all cancers(50;4.94e-06) CATGAGCTAGCTCCCTGTAAG 0.423 NA 65 159 0 0 0.01441 0 0 SERPINA13 388007 broad.mit.edu 37 14 95108198 95108198 + Missense_Mutation SNP G G A TCGA-78-7143-01A-11D-2036-08 TCGA-78-7143-10A-01D-2036-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq b710996c-8d35-4a2c-bc51-389b3e35b0f3 11e7f779-f338-41d4-914d-19f50cc524c3 g.chr14:95108198G>A uc001ydt.2 + 2 803 c.715G>A c.(715-717)GAA>AAA p.E239K NR_015340 RecName: Full=Serpin A13; Flags: Precursor; lung(1)|skin(1) 2 CCTCGGCAGTGAAACCACAGC 0.562 NA 19 98 0 0 0.012319 0 0 CCNK 8812 broad.mit.edu 37 14 99969230 99969230 + Missense_Mutation SNP C C T TCGA-78-7143-01A-11D-2036-08 TCGA-78-7143-10A-01D-2036-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq b710996c-8d35-4a2c-bc51-389b3e35b0f3 11e7f779-f338-41d4-914d-19f50cc524c3 g.chr14:99969230C>T uc001ygi.3 + 8 1050 c.920C>T c.(919-921)CCC>CTC p.P307L CCNK_uc001ygg.3_Splice_Site_p.D306_splice NM_001099402 NP_001092872 O75909 CCNK_HUMAN cyclin K isoform 1 307 cell division|mitosis|regulation of cyclin-dependent protein kinase activity|regulation of transcription, DNA-dependent|transcription from RNA polymerase II promoter protein kinase binding 0 all_cancers(154;0.224)|all_epithelial(191;0.0643)|Melanoma(154;0.0866) CAGAAGGACCCCCAGCAACCA 0.622 NA 13 89 0 0 0.016723 0 0 DENND4A 10260 broad.mit.edu 37 15 65959865 65959865 + Nonsense_Mutation SNP C C T TCGA-78-7143-01A-11D-2036-08 TCGA-78-7143-10A-01D-2036-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq b710996c-8d35-4a2c-bc51-389b3e35b0f3 11e7f779-f338-41d4-914d-19f50cc524c3 g.chr15:65959865C>T uc002aph.2 - 28 5409 c.5031G>A c.(5029-5031)TGG>TGA p.W1677* DENND4A_uc002api.2_Nonsense_Mutation_p.W1720* NM_005848 NP_005839 Q7Z401 MYCPP_HUMAN DENN/MADD domain containing 4A isoform 2 1677 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|protein binding ovary(2)|haematopoietic_and_lymphoid_tissue(1)|skin(1) 4 GTCTGAAATACCATACCAGGT 0.368 NA 8 42 0 0 0.00308 0 0 LMAN1L 79748 broad.mit.edu 37 15 75116699 75116699 + Missense_Mutation SNP C C T TCGA-78-7143-01A-11D-2036-08 TCGA-78-7143-10A-01D-2036-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq b710996c-8d35-4a2c-bc51-389b3e35b0f3 11e7f779-f338-41d4-914d-19f50cc524c3 g.chr15:75116699C>T uc002ayt.1 + 13 1333 c.1331C>T c.(1330-1332)GCA>GTA p.A444V LMAN1L_uc010bke.1_Missense_Mutation_p.A432V|CPLX3_uc002ayu.1_5'Flank NM_021819 NP_068591 Q9HAT1 LMA1L_HUMAN lectin, mannose-binding, 1 like precursor 444 Lumenal (Potential). ER-Golgi intermediate compartment membrane|integral to membrane sugar binding 0 CAGAAGGCAGCAGCCAAGGCC 0.587 NA 51 65 0 0 0.01441 0 0 TP53 7157 broad.mit.edu 37 17 7578388 7578388 + Missense_Mutation SNP C C T rs138525931 by1000genomes TCGA-78-7143-01A-11D-2036-08 TCGA-78-7143-10A-01D-2036-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq b710996c-8d35-4a2c-bc51-389b3e35b0f3 11e7f779-f338-41d4-914d-19f50cc524c3 g.chr17:7578388C>T uc002gim.2 - 5 736 c.542G>A c.(541-543)CGC>CAC p.R181H TP53_uc002gig.1_Missense_Mutation_p.R181H|TP53_uc002gih.2_Missense_Mutation_p.R181H|TP53_uc010cne.1_5'Flank|TP53_uc010cnf.1_Missense_Mutation_p.R49H|TP53_uc010cng.1_Missense_Mutation_p.R49H|TP53_uc002gii.1_Missense_Mutation_p.R49H|TP53_uc010cnh.1_Missense_Mutation_p.R181H|TP53_uc010cni.1_Missense_Mutation_p.R181H|TP53_uc002gij.2_Missense_Mutation_p.R181H|TP53_uc010cnj.1_RNA|TP53_uc002gin.2_Missense_Mutation_p.R88H|TP53_uc002gio.2_Missense_Mutation_p.R49H|TP53_uc010vug.1_Missense_Mutation_p.R142H NM_001126112 NP_001119584 P04637 P53_HUMAN tumor protein p53 isoform a 181 Required for interaction with FBXO42.||Interaction with HIPK1 (By similarity).|Interaction with AXIN1 (By similarity). R -> C (in LFS; germline mutation and in sporadic cancers; somatic mutation).|R -> S (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). 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|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|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 regulatory region DNA binding|transcription repressor activity|ubiquitin protein ligase binding|zinc ion binding p.R181H(20)|p.R181P(14)|p.R181C(13)|p.P177_C182delPHHERC(8)|p.0?(7)|p.R181L(3)|p.C176_R181delCPHHER(3)|p.R174fs*24(3)|p.R181R(2)|p.P177fs*3(2)|p.V173fs*59(2)|p.K164_P219del(1)|p.R49P(1)|p.C176fs*65(1)|p.R181G(1)|p.V173fs*23(1)|p.R181>XXXXXXX(1)|p.R88P(1)|p.R81fs*24(1)|p.R42fs*24(1)|p.E180_S183del(1)|p.R174fs*3(1)|p.E171fs*61(1) large_intestine(4656)|breast(2429)|upper_aerodigestive_tract(2212)|lung(2028)|ovary(1592)|oesophagus(1462)|haematopoietic_and_lymphoid_tissue(1228)|stomach(1136)|urinary_tract(1114)|central_nervous_system(1085)|liver(805)|skin(694)|pancreas(375)|biliary_tract(247)|soft_tissue(209)|prostate(194)|endometrium(150)|bone(102)|vulva(79)|kidney(79)|cervix(68)|thyroid(54)|salivary_gland(43)|adrenal_gland(37)|peritoneum(33)|eye(24)|thymus(21)|genital_tract(16)|autonomic_ganglia(16)|small_intestine(14)|testis(11)|penis(10)|vagina(6)|meninges(5)|pituitary(4)|pleura(3)|gastrointestinal_tract_(site_indeterminate)(1)|NS(1)|Fallopian tube(1)|placenta(1) 22245 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) ATCTGAGCAGCGCTCATGGTG 0.637 Pancreas(47;798 1329 9957 10801) 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 Hereditary_Adrenocortical_Cancer|Endometrial_Cancer_Familial_Clustering_of|Hereditary_Breast-Ovarian_Cancer_non-BRCA1/2|Li-Fraumensyndrome|Osteosarcoma_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) 15 19 0 0 0.00499 0 0 ATP8B1 5205 broad.mit.edu 37 18 55355661 55355661 + Silent SNP G G A TCGA-78-7143-01A-11D-2036-08 TCGA-78-7143-10A-01D-2036-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq b710996c-8d35-4a2c-bc51-389b3e35b0f3 11e7f779-f338-41d4-914d-19f50cc524c3 g.chr18:55355661G>A uc002lgw.2 - 12 1299 c.1299C>T c.(1297-1299)CCC>CCT p.P433P uc002lgv.1_Intron NM_005603 NP_005594 O43520 AT8B1_HUMAN ATPase, class I, type 8B, member 1 433 Cytoplasmic (Potential). ATP biosynthetic process|bile acid and bile salt transport|negative regulation of transcription, DNA-dependent apical plasma membrane|integral to plasma membrane|membrane fraction ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|magnesium ion binding|phospholipid-translocating ATPase activity breast(5)|ovary(2)|central_nervous_system(2)|lung(1) 10 Colorectal(73;0.229) TAGCTTTTGCGGGTGTGTCCT 0.443 NA Byler_disease 35 42 0 0 0.00623 0 0 MUC16 94025 broad.mit.edu 37 19 8971691 8971691 + Missense_Mutation SNP C C T TCGA-78-7143-01A-11D-2036-08 TCGA-78-7143-10A-01D-2036-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq b710996c-8d35-4a2c-bc51-389b3e35b0f3 11e7f779-f338-41d4-914d-19f50cc524c3 g.chr19:8971691C>T uc002mkp.2 - 78 43105 c.42901G>A c.(42901-42903)GAC>AAC p.D14301N MUC16_uc010dwi.2_RNA|MUC16_uc010dwj.2_Missense_Mutation_p.D1101N|MUC16_uc010xki.1_RNA NM_024690 NP_078966 Q8WXI7 MUC16_HUMAN mucin 16 Error:AA_residue_mismatch_between_GAF_and_UniProt_prot_seqs_after_alignment cell adhesion extracellular space|extrinsic to membrane|integral to membrane|plasma membrane protein binding lung(30)|ovary(15)|breast(8)|large_intestine(1)|skin(1)|prostate(1)|pancreas(1) 57 ACATGGATGTCCACCAACTGG 0.527 NA 15 29 0 0 0.004007 0 0 ICAM5 7087 broad.mit.edu 37 19 10403476 10403476 + Missense_Mutation SNP G G C TCGA-78-7143-01A-11D-2036-08 TCGA-78-7143-10A-01D-2036-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq b710996c-8d35-4a2c-bc51-389b3e35b0f3 11e7f779-f338-41d4-914d-19f50cc524c3 g.chr19:10403476G>C uc002mnu.3 + 5 1215 c.1150G>C c.(1150-1152)GAC>CAC p.D384H ICAM5_uc002mnv.3_Missense_Mutation_p.D259H NM_003259 NP_003250 Q9UMF0 ICAM5_HUMAN intercellular adhesion molecule 5 precursor 384 Extracellular (Potential).|Ig-like C2-type 4. cell-cell adhesion integral to plasma membrane breast(3) 3 OV - Ovarian serous cystadenocarcinoma(20;2.64e-09)|Epithelial(33;4.31e-06)|all cancers(31;9.75e-06) CTTCTTCTGCGACGCCACCCT 0.622 NA 8 30 0 0 0.004482 0 0 PAF1 54623 broad.mit.edu 37 19 39879634 39879634 + Missense_Mutation SNP G G T TCGA-78-7143-01A-11D-2036-08 TCGA-78-7143-10A-01D-2036-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq b710996c-8d35-4a2c-bc51-389b3e35b0f3 11e7f779-f338-41d4-914d-19f50cc524c3 g.chr19:39879634G>T uc002old.2 - 8 764 c.589C>A c.(589-591)CCC>ACC p.P197T PAF1_uc002ole.1_Missense_Mutation_p.P187T|PAF1_uc010xuv.1_RNA|MED29_uc010xuw.1_5'Flank|MED29_uc002olf.2_5'Flank|MED29_uc010xux.1_5'Flank NM_019088 NP_061961 Q8N7H5 PAF1_HUMAN Paf1, RNA polymerase II associated factor, 197 histone H2B ubiquitination|histone monoubiquitination|regulation of transcription, DNA-dependent|transcription, DNA-dependent Cdc73/Paf1 complex protein binding pancreas(1) 1 all_cancers(60;9.14e-07)|all_lung(34;4.03e-08)|Lung NSC(34;4.66e-08)|all_epithelial(25;1.88e-06)|Ovarian(47;0.0512) Epithelial(26;9.6e-28)|all cancers(26;9.14e-25)|Lung(45;0.000168)|LUSC - Lung squamous cell carcinoma(53;0.000199) GTGACTCGGGGTTTGCTGTAA 0.552 NA 26 67 9.39395e-14 1.02638e-13 0.00632 1 0 CYP2A7 1549 broad.mit.edu 37 19 41386439 41386439 + Silent SNP C C T rs139522441 TCGA-78-7143-01A-11D-2036-08 TCGA-78-7143-10A-01D-2036-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq b710996c-8d35-4a2c-bc51-389b3e35b0f3 11e7f779-f338-41d4-914d-19f50cc524c3 g.chr19:41386439C>T uc002opm.2 - 3 980 c.438G>A c.(436-438)GAG>GAA p.E146E CYP2A7_uc002opo.2_Silent_p.E146E|CYP2A7_uc002opn.2_Silent_p.E95E NM_000764 NP_000755 P20853 CP2A7_HUMAN cytochrome P450, family 2, subfamily A, 146 endoplasmic reticulum membrane|microsome aromatase activity|electron carrier activity|heme binding|oxygen binding ovary(1)|haematopoietic_and_lymphoid_tissue(1)|skin(1) 3 LUSC - Lung squamous cell carcinoma(20;0.000219)|Lung(22;0.000959) GGATGCGCTCCTCGATGCCTC 0.667 NA 15 10 0 0 0.003163 0 0 CEACAM7 1087 broad.mit.edu 37 19 42190882 42190882 + Missense_Mutation SNP T T C TCGA-78-7143-01A-11D-2036-08 TCGA-78-7143-10A-01D-2036-08 T T - - T T Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq b710996c-8d35-4a2c-bc51-389b3e35b0f3 11e7f779-f338-41d4-914d-19f50cc524c3 g.chr19:42190882T>C uc002ori.1 - 2 337 c.335A>G c.(334-336)AAC>AGC p.N112S CEACAM7_uc010ehx.2_Missense_Mutation_p.N112S|CEACAM7_uc010ehy.1_Missense_Mutation_p.N112S NM_006890 NP_008821 Q14002 CEAM7_HUMAN carcinoembryonic antigen-related cell adhesion 112 Ig-like V-type. anchored to membrane|integral to membrane|plasma membrane ovary(2) 2 OV - Ovarian serous cystadenocarcinoma(3;0.0027)|all cancers(3;0.00979)|Epithelial(262;0.0366) GTGGGTGACGTTCTGGATCAG 0.413 NA 17 114 0 0 0.008871 0 0 SLC8A1 6546 broad.mit.edu 37 2 40657206 40657206 + Missense_Mutation SNP C C A TCGA-78-7143-01A-11D-2036-08 TCGA-78-7143-10A-01D-2036-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq b710996c-8d35-4a2c-bc51-389b3e35b0f3 11e7f779-f338-41d4-914d-19f50cc524c3 g.chr2:40657206C>A uc002rrx.2 - 1 239 c.215G>T c.(214-216)GGG>GTG p.G72V SLC8A1_uc002rry.2_Missense_Mutation_p.G72V|SLC8A1_uc002rrz.2_Missense_Mutation_p.G72V|SLC8A1_uc002rsa.2_Missense_Mutation_p.G72V|SLC8A1_uc002rsd.3_Missense_Mutation_p.G72V|SLC8A1_uc002rsb.1_Missense_Mutation_p.G72V|SLC8A1_uc010fan.1_Missense_Mutation_p.G72V|SLC8A1_uc002rsc.1_Missense_Mutation_p.G72V NM_021097 NP_066920 P32418 NAC1_HUMAN solute carrier family 8 (sodium/calcium 72 Extracellular (Potential). cell communication|muscle contraction|platelet activation integral to plasma membrane calcium:sodium antiporter activity|calmodulin binding|heat shock protein binding ovary(1)|kidney(1)|central_nervous_system(1)|skin(1) 4 Alpha-Linolenic Acid(DB00132)|Icosapent(DB00159) AATTTTGTCCCCAAAAGAAGG 0.423 NA 19 43 1.15919e-05 1.17917e-05 0.008871 1 0 ASTL 431705 broad.mit.edu 37 2 96799269 96799269 + Missense_Mutation SNP C C T TCGA-78-7143-01A-11D-2036-08 TCGA-78-7143-10A-01D-2036-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq b710996c-8d35-4a2c-bc51-389b3e35b0f3 11e7f779-f338-41d4-914d-19f50cc524c3 g.chr2:96799269C>T uc010yui.1 - 5 350 c.350G>A c.(349-351)CGC>CAC p.R117H NM_001002036 NP_001002036 Q6HA08 ASTL_HUMAN astacin-like metalloendopeptidase precursor 117 proteolysis metalloendopeptidase activity|zinc ion binding 0 GATGACCTGGCGGCTGGGCTC 0.567 NA 16 27 0 0 0.003163 0 0 SNRNP200 23020 broad.mit.edu 37 2 96955643 96955643 + Missense_Mutation SNP C C T TCGA-78-7143-01A-11D-2036-08 TCGA-78-7143-10A-01D-2036-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq b710996c-8d35-4a2c-bc51-389b3e35b0f3 11e7f779-f338-41d4-914d-19f50cc524c3 g.chr2:96955643C>T uc002svu.2 - 21 2920 c.2834G>A c.(2833-2835)GGA>GAA p.G945E SNRNP200_uc002svw.1_Missense_Mutation_p.G17E NM_014014 NP_054733 O75643 U520_HUMAN activating signal cointegrator 1 complex subunit 945 catalytic step 2 spliceosome|nucleoplasm|U5 snRNP ATP binding|ATP-dependent helicase activity|nucleic acid binding|protein binding ovary(5)|skin(4)|large_intestine(1) 10 CAGGGGATCTCCCTTGAGGTC 0.537 NA 11 88 0 0 0.010729 0 0 RALGAPA2 57186 broad.mit.edu 37 20 20493648 20493649 + Missense_Mutation DNP AG AG CC TCGA-78-7143-01A-11D-2036-08 TCGA-78-7143-10A-01D-2036-08 AG AG - - AG AG Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq b710996c-8d35-4a2c-bc51-389b3e35b0f3 11e7f779-f338-41d4-914d-19f50cc524c3 g.chr20:20493648_20493649AG>CC uc002wrz.2 - 32 4507_4508 c.4364_4365CT>GG c.(4363-4365)TCT>TGG p.S1455W RALGAPA2_uc010gcx.2_Missense_Mutation_p.S1159W|RALGAPA2_uc010zsg.1_Missense_Mutation_p.S903W|RALGAPA2_uc002wsa.1_Missense_Mutation_p.S227W NM_020343 NP_065076 Q2PPJ7 RGPA2_HUMAN akt substrate AS250 1455 activation of Ral GTPase activity cytosol|nucleus protein heterodimerization activity|Ral GTPase activator activity ovary(1) 1 CATCAGAGAGAGAGCCCACTGG 0.48 NA 6 13 0 0 0.004672 0 0 CABLES2 81928 broad.mit.edu 37 20 60966386 60966386 + Silent SNP C C T TCGA-78-7143-01A-11D-2036-08 TCGA-78-7143-10A-01D-2036-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq b710996c-8d35-4a2c-bc51-389b3e35b0f3 11e7f779-f338-41d4-914d-19f50cc524c3 g.chr20:60966386C>T uc002ycv.2 - 9 1222 c.1215G>A c.(1213-1215)AAG>AAA p.K405K NM_031215 NP_112492 Q9BTV7 CABL2_HUMAN Cdk5 and Abl enzyme substrate 2 405 cell cycle|cell division|regulation of cell cycle|regulation of cell division cyclin-dependent protein kinase regulator activity pancreas(1) 1 Breast(26;2.05e-08) BRCA - Breast invasive adenocarcinoma(19;4.36e-06) CAGCGCACAGCTTGCGGTTCT 0.637 NA 35 209 0 0 0.019004 0 0 SAMSN1 64092 broad.mit.edu 37 21 15889271 15889271 + Missense_Mutation SNP G G A TCGA-78-7143-01A-11D-2036-08 TCGA-78-7143-10A-01D-2036-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq b710996c-8d35-4a2c-bc51-389b3e35b0f3 11e7f779-f338-41d4-914d-19f50cc524c3 g.chr21:15889271G>A uc002yju.1 - 3 303 c.221C>T c.(220-222)TCA>TTA p.S74L SAMSN1_uc010gky.1_Intron|SAMSN1_uc002yjv.1_Missense_Mutation_p.S142L NM_022136 NP_071419 Q9NSI8 SAMN1_HUMAN SAM domain, SH3 domain and nuclear localization 74 negative regulation of adaptive immune response|negative regulation of B cell activation|negative regulation of peptidyl-tyrosine phosphorylation cytoplasm|nucleus|ruffle phosphotyrosine binding ovary(3)|pancreas(1) 4 Epithelial(23;0.000155)|COAD - Colon adenocarcinoma(22;0.00118)|Colorectal(24;0.00961)|Lung(58;0.164) CATTGTCCATGAAATAGCTCT 0.343 NA 6 30 0 0 0.021553 0 0 C3orf23 285343 broad.mit.edu 37 3 44434409 44434409 + Missense_Mutation SNP G G C TCGA-78-7143-01A-11D-2036-08 TCGA-78-7143-10A-01D-2036-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq b710996c-8d35-4a2c-bc51-389b3e35b0f3 11e7f779-f338-41d4-914d-19f50cc524c3 g.chr3:44434409G>C uc010him.2 + 6 880 c.635G>C c.(634-636)AGA>ACA p.R212T C3orf23_uc003cnd.3_Missense_Mutation_p.R212T|C3orf23_uc003cne.3_Missense_Mutation_p.R68T NM_173826 NP_776187 Q8N3R3 CC023_HUMAN hypothetical protein LOC285343 isoform 1 212 mitochondrion upper_aerodigestive_tract(1)|ovary(1)|skin(1) 3 KIRC - Kidney renal clear cell carcinoma(197;0.0468)|Kidney(197;0.0585) TTGCCACTTAGAAAAGAACTA 0.323 NA 9 59 0 0 0.004482 0 0 RHO 6010 broad.mit.edu 37 3 129251411 129251411 + Missense_Mutation SNP G G C rs148222991 TCGA-78-7143-01A-11D-2036-08 TCGA-78-7143-10A-01D-2036-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq b710996c-8d35-4a2c-bc51-389b3e35b0f3 11e7f779-f338-41d4-914d-19f50cc524c3 g.chr3:129251411G>C uc003emt.2 + 4 827 c.732G>C c.(730-732)CAG>CAC p.Q244H NM_000539 NP_000530 P08100 OPSD_HUMAN rhodopsin 244 Cytoplasmic. protein-chromophore linkage|rhodopsin mediated signaling pathway Golgi apparatus|integral to plasma membrane|photoreceptor inner segment membrane|photoreceptor outer segment membrane G-protein coupled receptor activity|metal ion binding|photoreceptor activity|protein binding 0 all_neural(597;0.0227)|Myeloproliferative disorder(1037;0.0255)|Prostate(884;0.183) GBM - Glioblastoma multiforme(114;2.58e-05)|Lung(219;0.0234) Halothane(DB01159) CCACCACACAGAAGGCAGAGA 0.622 Esophageal Squamous(118;214 1623 30842 43234 46940) NA 7 61 0 0 0.001984 0 0 EPHB1 2047 broad.mit.edu 37 3 134851754 134851754 + Missense_Mutation SNP C C T rs56396912 TCGA-78-7143-01A-11D-2036-08 TCGA-78-7143-10A-01D-2036-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq b710996c-8d35-4a2c-bc51-389b3e35b0f3 11e7f779-f338-41d4-914d-19f50cc524c3 g.chr3:134851754C>T uc003eqt.2 + 5 1380 c.1160C>T c.(1159-1161)ACG>ATG p.T387M EPHB1_uc010htz.1_RNA|EPHB1_uc011bly.1_3'UTR|EPHB1_uc003equ.2_Translation_Start_Site NM_004441 NP_004432 P54762 EPHB1_HUMAN ephrin receptor EphB1 precursor 387 Extracellular (Potential).|Fibronectin type-III 1. integral to plasma membrane ATP binding|ephrin receptor activity|protein binding p.T387M(4)|p.T387T(1) lung(11)|ovary(6)|stomach(4)|breast(3)|central_nervous_system(2)|skin(2)|large_intestine(1)|pancreas(1) 30 CTGGGCCTGACGGAGTGCCGC 0.612 NA 6 34 0 0 0.021553 0 0 CSN3 1448 broad.mit.edu 37 4 71114727 71114727 + Missense_Mutation SNP G G C TCGA-78-7143-01A-11D-2036-08 TCGA-78-7143-10A-01D-2036-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq b710996c-8d35-4a2c-bc51-389b3e35b0f3 11e7f779-f338-41d4-914d-19f50cc524c3 g.chr4:71114727G>C uc003hfe.3 + 4 158 c.100G>C c.(100-102)GAT>CAT p.D34H NM_005212 NP_005203 P07498 CASK_HUMAN casein kappa precursor 34 extracellular region protein binding ovary(2)|kidney(1)|central_nervous_system(1) 4 CCATGAGAATGATGAAAGACC 0.299 NA 9 23 0 0 0.008291 0 0 NDST3 9348 broad.mit.edu 37 4 119059304 119059304 + Missense_Mutation SNP G G T TCGA-78-7143-01A-11D-2036-08 TCGA-78-7143-10A-01D-2036-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq b710996c-8d35-4a2c-bc51-389b3e35b0f3 11e7f779-f338-41d4-914d-19f50cc524c3 g.chr4:119059304G>T uc003ibx.2 + 5 1723 c.1320G>T c.(1318-1320)AAG>AAT p.K440N NDST3_uc011cgf.1_Missense_Mutation_p.K359N NM_004784 NP_004775 O95803 NDST3_HUMAN N-deacetylase/N-sulfotransferase (heparan 440 Lumenal (Potential).|Heparan sulfate N-deacetylase 3. Golgi membrane|integral to membrane [heparan sulfate]-glucosamine N-sulfotransferase activity|hydrolase activity large_intestine(1) 1 CCTGGAAGAAGGTCTGGAATA 0.498 NA 28 23 1.32181e-22 1.49975e-22 0.007291 1 0 CMYA5 202333 broad.mit.edu 37 5 79032290 79032290 + Missense_Mutation SNP A A T TCGA-78-7143-01A-11D-2036-08 TCGA-78-7143-10A-01D-2036-08 A A - - A A Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq b710996c-8d35-4a2c-bc51-389b3e35b0f3 11e7f779-f338-41d4-914d-19f50cc524c3 g.chr5:79032290A>T uc003kgc.2 + 2 7774 c.7702A>T c.(7702-7704)ATG>TTG p.M2568L NM_153610 NP_705838 Q8N3K9 CMYA5_HUMAN cardiomyopathy associated 5 2568 perinuclear region of cytoplasm ovary(6)|pancreas(2)|lung(1) 9 Lung NSC(167;0.00296)|all_lung(232;0.00327)|Ovarian(174;0.0262) OV - Ovarian serous cystadenocarcinoma(54;9.85e-46)|Epithelial(54;3.38e-40)|all cancers(79;3.43e-35) AGCCGAGTCTATGAGTAGAGA 0.363 NA 6 23 0 0 0.001984 0 0 VCAN 1462 broad.mit.edu 37 5 82875982 82875982 + Splice_Site SNP G G A TCGA-78-7143-01A-11D-2036-08 TCGA-78-7143-10A-01D-2036-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq b710996c-8d35-4a2c-bc51-389b3e35b0f3 11e7f779-f338-41d4-914d-19f50cc524c3 g.chr5:82875982G>A uc003kii.3 + 14 10419 c.10063_splice c.e14+1 p.P3355_splice VCAN_uc003kij.3_Splice_Site_p.P2368_splice|VCAN_uc010jau.2_Splice_Site_p.P1601_splice|VCAN_uc003kik.3_Splice_Site_p.P614_splice|VCAN_uc003kil.3_Splice_Site_p.P2019_splice NM_004385 NP_004376 P13611 CSPG2_HUMAN versican isoform 1 precursor cell adhesion|cell recognition|glial cell migration extracellular space|proteinaceous extracellular matrix calcium ion binding|hyaluronic acid binding|sugar binding ovary(7)|skin(6)|lung(2)|central_nervous_system(1) 16 Lung NSC(167;0.0216)|all_lung(232;0.0251)|Ovarian(174;0.142) OV - Ovarian serous cystadenocarcinoma(54;2.47e-41)|Epithelial(54;2.51e-34)|all cancers(79;5.19e-29) TGCATGAACCGTAAGTGGTCC 0.433 NA 20 20 0 0 0.008871 0 0 TBC1D9B 23061 broad.mit.edu 37 5 179292850 179292850 + Missense_Mutation SNP C C G TCGA-78-7143-01A-11D-2036-08 TCGA-78-7143-10A-01D-2036-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq b710996c-8d35-4a2c-bc51-389b3e35b0f3 11e7f779-f338-41d4-914d-19f50cc524c3 g.chr5:179292850C>G uc003mlh.2 - 20 2990 c.2953G>C c.(2953-2955)GAG>CAG p.E985Q TBC1D9B_uc003mli.2_Missense_Mutation_p.E968Q|TBC1D9B_uc003mlj.2_Missense_Mutation_p.E967Q|TBC1D9B_uc003mlf.2_Missense_Mutation_p.E59Q|TBC1D9B_uc003mlg.2_Missense_Mutation_p.E144Q|TBC1D9B_uc011dgv.1_Missense_Mutation_p.E144Q NM_198868 NP_942568 Q66K14 TBC9B_HUMAN TBC1 domain family, member 9B (with GRAM domain) 985 integral to membrane|intracellular calcium ion binding|Rab GTPase activator activity breast(1)|skin(1) 2 all_cancers(89;0.000197)|all_epithelial(37;6.84e-05)|Renal(175;0.000159)|Lung NSC(126;0.00136)|all_lung(126;0.00243) all_cancers(40;0.0236)|Medulloblastoma(196;0.00498)|all_neural(177;0.0138) Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178) CCTCTCTCCTCACTTCCACTT 0.507 NA 9 76 0 0 0.010729 0 0 ZNF322A 79692 broad.mit.edu 37 6 26638557 26638557 + Missense_Mutation SNP C C T TCGA-78-7143-01A-11D-2036-08 TCGA-78-7143-10A-01D-2036-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq b710996c-8d35-4a2c-bc51-389b3e35b0f3 11e7f779-f338-41d4-914d-19f50cc524c3 g.chr6:26638557C>T uc003nil.3 - 4 854 c.225G>A c.(223-225)ATG>ATA p.M75I ZNF322A_uc003nij.2_5'Flank NM_024639 NP_078915 Q6U7Q0 Z322A_HUMAN zinc finger protein 322A 75 C2H2-type 2. regulation of transcription, DNA-dependent|transcription, DNA-dependent cytoplasm|nucleus DNA binding|zinc ion binding 0 TTTTCTCACACATATCACATT 0.378 NA 23 146 0 0 0.007835 0 0 USP49 25862 broad.mit.edu 37 6 41773992 41773992 + Missense_Mutation SNP G G A TCGA-78-7143-01A-11D-2036-08 TCGA-78-7143-10A-01D-2036-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq b710996c-8d35-4a2c-bc51-389b3e35b0f3 11e7f779-f338-41d4-914d-19f50cc524c3 g.chr6:41773992G>A uc003ori.2 - 4 952 c.730C>T c.(730-732)CGC>TGC p.R244C NM_018561 NP_061031 Q70CQ1 UBP49_HUMAN ubiquitin thioesterase 49 244 ubiquitin-dependent protein catabolic process cysteine-type peptidase activity|ubiquitin thiolesterase activity|zinc ion binding ovary(1)|central_nervous_system(1) 2 Ovarian(28;0.0919)|Colorectal(47;0.121) STAD - Stomach adenocarcinoma(11;0.000204)|Epithelial(12;0.000309)|Colorectal(64;0.00062)|COAD - Colon adenocarcinoma(64;0.00152) GCCGGCTGGCGACGCAGCTTG 0.517 NA 16 36 0 0 0.003163 0 0 ABCC10 89845 broad.mit.edu 37 6 43400264 43400264 + Silent SNP C C G TCGA-78-7143-01A-11D-2036-08 TCGA-78-7143-10A-01D-2036-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq b710996c-8d35-4a2c-bc51-389b3e35b0f3 11e7f779-f338-41d4-914d-19f50cc524c3 g.chr6:43400264C>G uc003ouy.1 + 3 761 c.546C>G c.(544-546)CTC>CTG p.L182L ABCC10_uc003ouz.1_Silent_p.L139L NM_033450 NP_258261 Q5T3U5 MRP7_HUMAN ATP-binding cassette, sub-family C, member 10 182 Helical; (Potential). integral to membrane|plasma membrane ATP binding|ATPase activity, coupled to transmembrane movement of substances ovary(6)|central_nervous_system(1) 7 all_lung(25;0.00536) Colorectal(64;0.00245)|COAD - Colon adenocarcinoma(64;0.00536)|all cancers(41;0.0152)|OV - Ovarian serous cystadenocarcinoma(102;0.0804) TGGCTGCACTCTTGGCCTATG 0.637 NA 37 83 0 0 0.017118 0 0 TNFRSF21 27242 broad.mit.edu 37 6 47251956 47251956 + Missense_Mutation SNP C C A TCGA-78-7143-01A-11D-2036-08 TCGA-78-7143-10A-01D-2036-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq b710996c-8d35-4a2c-bc51-389b3e35b0f3 11e7f779-f338-41d4-914d-19f50cc524c3 g.chr6:47251956C>A uc003oyv.2 - 3 1394 c.961G>T c.(961-963)GGC>TGC p.G321C NM_014452 NP_055267 O75509 TNR21_HUMAN tumor necrosis factor receptor superfamily, 321 Extracellular (Potential). cellular lipid metabolic process cytoplasm|integral to membrane protein binding|receptor activity 0 Lung(136;0.189) GACTTCTCGCCCCCAGTGGCC 0.562 NA 19 126 7.41877e-09 7.81621e-09 0.012319 1 0 MDN1 23195 broad.mit.edu 37 6 90385846 90385846 + Missense_Mutation SNP T T C TCGA-78-7143-01A-11D-2036-08 TCGA-78-7143-10A-01D-2036-08 T T - - T T Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq b710996c-8d35-4a2c-bc51-389b3e35b0f3 11e7f779-f338-41d4-914d-19f50cc524c3 g.chr6:90385846T>C uc003pnn.1 - 77 12736 c.12620A>G c.(12619-12621)AAC>AGC p.N4207S NM_014611 NP_055426 Q9NU22 MDN1_HUMAN MDN1, midasin homolog 4207 protein complex assembly|regulation of protein complex assembly nucleus ATP binding|ATPase activity|unfolded protein binding ovary(8)|skin(2) 10 all_cancers(76;1.47e-06)|Acute lymphoblastic leukemia(125;2.23e-10)|Prostate(29;5.55e-10)|all_hematologic(105;2.42e-06)|all_epithelial(107;0.00246) BRCA - Breast invasive adenocarcinoma(108;0.0193) TAGTGCTGCGTTAAGCCTGGC 0.478 NA 10 27 0 0 0.010729 0 0 TRAF3IP2 10758 broad.mit.edu 37 6 111912597 111912597 + Silent SNP G G C TCGA-78-7143-01A-11D-2036-08 TCGA-78-7143-10A-01D-2036-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq b710996c-8d35-4a2c-bc51-389b3e35b0f3 11e7f779-f338-41d4-914d-19f50cc524c3 g.chr6:111912597G>C uc011ebc.1 - 3 1308 c.693C>G c.(691-693)CTC>CTG p.L231L TRAF3IP2_uc003pvg.2_Silent_p.L231L|TRAF3IP2_uc003pvf.2_Silent_p.L231L|TRAF3IP2_uc010kdw.2_Silent_p.L231L|TRAF3IP2_uc010kdx.2_Silent_p.L231L NM_147686 NP_679211 O43734 CIKS_HUMAN TRAF3 interacting protein 2 isoform 2 240 intracellular signal transduction|positive regulation of I-kappaB kinase/NF-kappaB cascade intracellular ovary(2)|central_nervous_system(1) 3 all_cancers(87;7.87e-06)|Acute lymphoblastic leukemia(125;3.61e-09)|all_hematologic(75;2.63e-07)|all_epithelial(87;0.0024)|Colorectal(196;0.021) OV - Ovarian serous cystadenocarcinoma(136;0.033)|all cancers(137;0.0412)|Epithelial(106;0.0732) CCCTGGACCTGAGAGGTCTGG 0.572 NA 11 70 0 0 0.010729 0 0 TAAR8 83551 broad.mit.edu 37 6 132874690 132874690 + Missense_Mutation SNP A A G rs143776669 TCGA-78-7143-01A-11D-2036-08 TCGA-78-7143-10A-01D-2036-08 A A - - A A Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq b710996c-8d35-4a2c-bc51-389b3e35b0f3 11e7f779-f338-41d4-914d-19f50cc524c3 g.chr6:132874690A>G uc011ecj.1 + 1 859 c.859A>G c.(859-861)ACC>GCC p.T287A NM_053278 NP_444508 Q969N4 TAAR8_HUMAN trace amine associated receptor 8 287 Helical; Name=7; (Potential). plasma membrane G-protein coupled receptor activity ovary(1) 1 Breast(56;0.112) OV - Ovarian serous cystadenocarcinoma(155;0.00412)|GBM - Glioblastoma multiforme(226;0.00792) GGGCTTCCTGACCCCTGCCTA 0.388 NA 11 114 0 0 0.010729 0 0 MAGI2 9863 broad.mit.edu 37 7 78256514 78256514 + Missense_Mutation SNP C C G TCGA-78-7143-01A-11D-2036-08 TCGA-78-7143-10A-01D-2036-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq b710996c-8d35-4a2c-bc51-389b3e35b0f3 11e7f779-f338-41d4-914d-19f50cc524c3 g.chr7:78256514C>G uc003ugx.2 - 3 714 c.460G>C c.(460-462)GAT>CAT p.D154H MAGI2_uc003ugy.2_Missense_Mutation_p.D154H|MAGI2_uc011kgr.1_5'UTR|MAGI2_uc011kgs.1_5'UTR NM_012301 NP_036433 Q86UL8 MAGI2_HUMAN membrane associated guanylate kinase, WW and PDZ 154 Guanylate kinase-like. cell junction|synapse|synaptosome phosphatase binding ovary(5)|lung(4)|breast(1)|skin(1) 11 all_cancers(73;0.0064)|all_epithelial(88;0.087)|all_neural(109;0.0936)|Medulloblastoma(109;0.166)|Melanoma(862;0.236) AAAATATAATCCACTCCAGGG 0.393 NA 5 44 0 0 0.014758 0 0 MET 4233 broad.mit.edu 37 7 116411902 116411902 + Splice_Site SNP G G A TCGA-78-7143-01A-11D-2036-08 TCGA-78-7143-10A-01D-2036-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq b710996c-8d35-4a2c-bc51-389b3e35b0f3 11e7f779-f338-41d4-914d-19f50cc524c3 g.chr7:116411902G>A uc003vij.2 + 14 3075 c.2888_splice c.e14-1 p.D963_splice MET_uc010lkh.2_Splice_Site_p.D981_splice|MET_uc011knj.1_Splice_Site_p.D533_splice NM_000245 NP_000236 P08581 MET_HUMAN met proto-oncogene isoform b precursor axon guidance|cell proliferation basal plasma membrane|integral to plasma membrane ATP binding|hepatocyte growth factor receptor activity|protein binding p.982_1028del47(1)|p.?(1) upper_aerodigestive_tract(63)|lung(41)|kidney(18)|NS(10)|ovary(5)|thyroid(4)|central_nervous_system(4)|stomach(3)|liver(3)|pleura(2)|large_intestine(2)|breast(2)|testis(1)|skin(1) 159 all_cancers(3;1.25e-07)|all_epithelial(6;4.07e-08)|Lung NSC(10;0.00108)|all_lung(10;0.00125) Ovarian(593;0.133) GBM - Glioblastoma multiforme(2;2.31e-07)|all cancers(2;0.000419)|STAD - Stomach adenocarcinoma(10;0.000512) TCTGTTTTAAGATCTGGGCAG 0.458 NA Mis papillary renal|head-neck squamous cell papillary renal Hereditary_Papillary_Renal_Carcinoma_(type_1) 24 9 0 0 0.004656 0 0 NLGN4X 57502 broad.mit.edu 37 X 5811125 5811125 + Missense_Mutation SNP C C A TCGA-78-7143-01A-11D-2036-08 TCGA-78-7143-10A-01D-2036-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq b710996c-8d35-4a2c-bc51-389b3e35b0f3 11e7f779-f338-41d4-914d-19f50cc524c3 g.chrX:5811125C>A uc010ndh.2 - 6 2685 c.2184G>T c.(2182-2184)GAG>GAT p.E728D NLGN4X_uc004crp.2_Missense_Mutation_p.E748D|NLGN4X_uc004crq.2_Missense_Mutation_p.E728D|NLGN4X_uc010ndi.2_Missense_Mutation_p.E765D|NLGN4X_uc004crr.2_Missense_Mutation_p.E728D|NLGN4X_uc010ndj.2_Missense_Mutation_p.E728D NM_181332 NP_851849 Q8N0W4 NLGNX_HUMAN X-linked neuroligin 4 precursor 728 Cytoplasmic (Potential). brainstem development|cell adhesion|cell-cell junction organization|cerebellum development|male courtship behavior|positive regulation of organ growth|regulation of excitatory postsynaptic membrane potential|social behavior|synapse assembly|territorial aggressive behavior|vocalization behavior cell surface|dendrite|integral to plasma membrane|synapse chloride ion binding|neurexin binding|protein homodimerization activity|receptor activity skin(2)|large_intestine(1)|ovary(1) 4 GAGACATGATCTCTTCGTTCT 0.552 NA 22 54 1.55795e-14 1.73432e-14 0.012319 1 0 SLC6A15 55117 broad.mit.edu 37 12 85270377 85270378 + Frame_Shift_Ins INS - - T TCGA-78-7143-01A-11D-2036-08 TCGA-78-7143-10A-01D-2036-08 - - - - - - Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq b710996c-8d35-4a2c-bc51-389b3e35b0f3 11e7f779-f338-41d4-914d-19f50cc524c3 g.chr12:85270377_85270378insT uc001szv.2 - 6 1258_1259 c.765_766insA c.(763-768)TATTTTfs p.Y255fs SLC6A15_uc010sul.1_Frame_Shift_Ins_p.Y148fs NM_182767 NP_877499 Q9H2J7 S6A15_HUMAN solute carrier family 6, member 15 isoform 1 255_256 Helical; Name=5; (Potential). cellular nitrogen compound metabolic process|leucine transport|proline transport integral to plasma membrane amino acid transmembrane transporter activity|neurotransmitter:sodium symporter activity pancreas(2)|ovary(1) 3 AGAGAACTAAAATATATGATCT 0.302 NA 14 22 --- --- --- --- NA NA NA NA NA RB1 5925 broad.mit.edu 37 13 48951168 48951168 + Frame_Shift_Del DEL C C - TCGA-78-7143-01A-11D-2036-08 TCGA-78-7143-10A-01D-2036-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq b710996c-8d35-4a2c-bc51-389b3e35b0f3 11e7f779-f338-41d4-914d-19f50cc524c3 g.chr13:48951168delC uc001vcb.2 + 13 1496 c.1330delC c.(1330-1332)CAGfs p.Q444fs RB1_uc010act.1_Frame_Shift_Del_p.Q145fs NM_000321 NP_000312 P06400 RB_HUMAN retinoblastoma 1 444 Domain A.|Pocket; binds T and E1A. androgen receptor signaling pathway|cell cycle arrest|chromatin remodeling|G1 phase of mitotic cell cycle|interspecies interaction between organisms|maintenance of mitotic sister chromatid cohesion|mitotic cell cycle G1/S transition checkpoint|myoblast differentiation|negative regulation of cell growth|negative regulation of protein kinase activity|negative regulation of S phase of mitotic cell cycle|negative regulation of sequence-specific DNA binding transcription factor activity|positive regulation of mitotic metaphase/anaphase transition|protein localization to chromosome, centromeric region|Ras protein signal transduction|regulation of centromere complex assembly|regulation of cohesin localization to chromatin|regulation of lipid kinase activity|regulation of transcription involved in G1/S phase of mitotic cell cycle|S phase of mitotic cell cycle|sister chromatid biorientation chromatin|PML body|Rb-E2F complex|SWI/SNF complex androgen receptor binding|DNA binding|kinase binding|phosphoprotein binding|sequence-specific DNA binding transcription factor activity|transcription coactivator activity|transcription factor binding|ubiquitin protein ligase binding p.?(8)|p.Q444H(1) lung(94)|eye(89)|central_nervous_system(47)|bone(22)|breast(21)|urinary_tract(17)|haematopoietic_and_lymphoid_tissue(14)|ovary(10)|prostate(9)|soft_tissue(8)|skin(7)|endometrium(5)|cervix(3)|liver(3)|salivary_gland(2)|stomach(2)|oesophagus(1)|adrenal_gland(1)|kidney(1)|gastrointestinal_tract_(site_indeterminate)(1)|pituitary(1) 358 all_cancers(8;6.9e-71)|all_epithelial(8;4.61e-22)|Acute lymphoblastic leukemia(8;1.1e-21)|all_hematologic(8;2.3e-21)|all_lung(13;1.51e-09)|Lung NSC(96;7.03e-07)|Breast(56;1.53e-05)|Prostate(109;0.000493)|Myeloproliferative disorder(33;0.0179)|Hepatocellular(98;0.0207)|all_neural(104;0.0227)|Glioma(44;0.0286)|Lung SC(185;0.0301) GBM - Glioblastoma multiforme(2;9.98e-18)|LUSC - Lung squamous cell carcinoma(3;0.013) Insulin Glargine recombinant(DB00047)|Insulin Lyspro recombinant(DB00046)|Insulin recombinant(DB00030)|Insulin, porcine(DB00071) AATTGGATCACAGGTAACTTG 0.333 6 D|Mis|N|F|S retinoblastoma|sarcoma|breast|small cell lung retinoblastoma|sarcoma|breast|small cell lung Hereditary_Retinoblastoma TCGA GBM(7;6.82e-08)|TSP Lung(12;0.097)|TCGA Ovarian(6;0.080) 16 15 --- --- --- --- NA NA NA NA NA ZNF320 162967 broad.mit.edu 37 19 53384185 53384185 + Frame_Shift_Del DEL C C - rs6509701 byFrequency TCGA-78-7143-01A-11D-2036-08 TCGA-78-7143-10A-01D-2036-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq b710996c-8d35-4a2c-bc51-389b3e35b0f3 11e7f779-f338-41d4-914d-19f50cc524c3 g.chr19:53384185delC uc002qag.2 - 4 1385 c.1194delG c.(1192-1194)GCGfs p.A398fs ZNF320_uc010eqh.1_5'Flank|ZNF320_uc010eqi.1_Intron|ZNF320_uc002qah.2_Frame_Shift_Del_p.A344fs|ZNF320_uc002qai.2_Frame_Shift_Del_p.A398fs NM_207333 NP_997216 A2RRD8 ZN320_HUMAN zinc finger protein 320 398 C2H2-type 9. regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding 0 GBM - Glioblastoma multiforme(134;0.0534) ATGCGAGGTACGCTTTTGTAC 0.393 NA 12 41 --- --- --- --- NA NA NA NA NA CTNNBL1 56259 broad.mit.edu 37 20 36386054 36386072 + Splice_Site DEL CTCTGGTAAGTTGCACATC CTCTGGTAAGTTGCACATC - TCGA-78-7143-01A-11D-2036-08 TCGA-78-7143-10A-01D-2036-08 CTCTGGTAAGTTGCACATC CTCTGGTAAGTTGCACATC - - CTCTGGTAAGTTGCACATC CTCTGGTAAGTTGCACATC Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq b710996c-8d35-4a2c-bc51-389b3e35b0f3 11e7f779-f338-41d4-914d-19f50cc524c3 g.chr20:36386054_36386072delCTCTGGTAAGTTGCACATC uc010zvw.1 + 6 655 c.564_splice c.e6+1 p.L188_splice CTNNBL1_uc002xhh.2_Intron|CTNNBL1_uc002xhi.2_Splice_Site NM_030877 NP_110517 Q8WYA6 CTBL1_HUMAN beta catenin-like 1 apoptosis|positive regulation of apoptosis|somatic diversification of immunoglobulins nucleus enzyme binding ovary(2) 2 Myeloproliferative disorder(115;0.00878) CTCATCGATGCTCTGGTAAGTTGCACATCCTCTGGGGTT 0.502 Ovarian(184;582 2038 3273 4106 42608) NA 11 19 --- --- --- --- NA NA NA NA NA