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 isArtifactMode oxoGCut pox pox_cutoff qox t_alt_count t_ref_count validation_alt_allele validation_tumor_sample RERE 473 broad.mit.edu 37 1 8419925 8419925 + Missense_Mutation SNP C C T TCGA-FD-A3B8-01A-31D-A20D-08 TCGA-FD-A3B8-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7957bb77-8329-43a0-b1a8-140f2cb6b91b 83376d89-33f8-4ade-969d-d69391dd7cd8 g.chr1:8419925C>T uc001ape.2 - 20 4327 c.3517G>A c.(3517-3519)GAG>AAG p.E1173K RERE_uc001apf.2_Missense_Mutation_p.E1173K|RERE_uc001apd.2_Missense_Mutation_p.E619K NM_012102 NP_036234 Q9P2R6 RERE_HUMAN atrophin-1 like protein isoform a 1173 Potential. multicellular organismal development|NLS-bearing substrate import into nucleus mitochondrion poly-glutamine tract binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding ovary(1)|central_nervous_system(1) 2 Ovarian(185;0.0661) all_epithelial(116;1.17e-21)|all_lung(118;1.4e-06)|Lung NSC(185;3.06e-06)|Renal(390;0.000147)|Breast(348;0.000206)|Colorectal(325;0.00187)|Hepatocellular(190;0.00825)|Ovarian(437;0.0253)|Myeloproliferative disorder(586;0.0255) UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|all cancers(8;9.64e-67)|GBM - Glioblastoma multiforme(8;9.89e-33)|Colorectal(212;1.45e-07)|COAD - Colon adenocarcinoma(227;3.42e-05)|Kidney(185;6e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000533)|KIRC - Kidney renal clear cell carcinoma(229;0.00106)|STAD - Stomach adenocarcinoma(132;0.00118)|READ - Rectum adenocarcinoma(331;0.0419)|Lung(427;0.195) TGCTCAGCCTCGCGCTTGGCC 0.498 NaN 0 0 0 0.02938 0 4 58 DEM1 64789 broad.mit.edu 37 1 40980423 40980423 + Missense_Mutation SNP A A G TCGA-FD-A3B8-01A-31D-A20D-08 TCGA-FD-A3B8-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7957bb77-8329-43a0-b1a8-140f2cb6b91b 83376d89-33f8-4ade-969d-d69391dd7cd8 g.chr1:40980423A>G uc001cfp.2 + 3 412 c.207A>G c.(205-207)ATA>ATG p.I69M DEM1_uc001cfq.2_Missense_Mutation_p.I69M|DEM1_uc001cfr.2_Missense_Mutation_p.I69M|DEM1_uc001cfs.2_Missense_Mutation_p.I69M NM_022774 NP_073611 Q9H790 EXO5_HUMAN defects in morphology 1 homolog 69 DNA binding|exonuclease activity 0 GATTGGATATATTATCACCCA 0.423 NaN 0 0 0 0.004672 0 3 100 NBPF10 100132406 broad.mit.edu 37 1 145302714 145302714 + Silent SNP A A G rs9424867 TCGA-FD-A3B8-01A-31D-A20D-08 TCGA-FD-A3B8-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7957bb77-8329-43a0-b1a8-140f2cb6b91b 83376d89-33f8-4ade-969d-d69391dd7cd8 g.chr1:145302714A>G uc001end.3 + 8 1187 c.1152A>G c.(1150-1152)TTA>TTG p.L384L NBPF10_uc009wir.2_Intron|NBPF9_uc010oye.1_Intron|NBPF9_uc010oyf.1_Intron|NBPF9_uc010oyg.1_Intron|NBPF10_uc001emp.3_Intron|NBPF10_uc010oyi.1_5'UTR|NBPF10_uc001emq.1_Silent_p.L113L NM_001039703 NP_001034792 A6NDV3 A6NDV3_HUMAN hypothetical protein LOC100132406 Error:AA_residue_mismatch_between_GAF_and_UniProt_prot_seqs_after_alignment 0 all_hematologic(923;0.032) Colorectal(1306;1.36e-07)|KIRC - Kidney renal clear cell carcinoma(1967;0.00258) AGGAGAAGTTACGGGAAGGGA 0.527 NaN 0 0 0 0.038147 0 7 38 PI4KB 5298 broad.mit.edu 37 1 151288629 151288629 + Missense_Mutation SNP G G A TCGA-FD-A3B8-01A-31D-A20D-08 TCGA-FD-A3B8-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7957bb77-8329-43a0-b1a8-140f2cb6b91b 83376d89-33f8-4ade-969d-d69391dd7cd8 g.chr1:151288629G>A uc001ext.2 - 2 744 c.329C>T c.(328-330)TCA>TTA p.S110L PI4KB_uc001exr.2_Missense_Mutation_p.S122L|PI4KB_uc001exs.2_Missense_Mutation_p.S110L|PI4KB_uc001exu.2_Missense_Mutation_p.S110L|PI4KB_uc010pcw.1_Intron|PI4KB_uc009wmq.1_Missense_Mutation_p.S122L NM_002651 NP_002642 Q9UBF8 PI4KB_HUMAN catalytic phosphatidylinositol 4-kinase beta 110 phosphatidylinositol biosynthetic process|phosphatidylinositol-mediated signaling|receptor-mediated endocytosis endosome|Golgi apparatus|mitochondrial outer membrane|perinuclear region of cytoplasm|rough endoplasmic reticulum membrane 1-phosphatidylinositol 4-kinase activity|ATP binding|protein binding ovary(2)|skin(2) 4 Lung SC(34;0.00471)|Ovarian(49;0.0147)|Hepatocellular(266;0.0997)|all_hematologic(923;0.127)|Melanoma(130;0.185) UCEC - Uterine corpus endometrioid carcinoma (35;0.112)|LUSC - Lung squamous cell carcinoma(543;0.181) GGCTGTGCCTGAGGCCACAGC 0.542 NaN 0 0 0 0.058154 0 8 104 FCGR2A 2212 broad.mit.edu 37 1 161487799 161487799 + Missense_Mutation SNP G G C TCGA-FD-A3B8-01A-31D-A20D-08 TCGA-FD-A3B8-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7957bb77-8329-43a0-b1a8-140f2cb6b91b 83376d89-33f8-4ade-969d-d69391dd7cd8 g.chr1:161487799G>C uc001gan.2 + 7 868 c.815G>C c.(814-816)AGA>ACA p.R272T FCGR2A_uc001gam.2_Missense_Mutation_p.R271T|FCGR2A_uc001gao.2_RNA NM_001136219 NP_001129691 P12318 FCG2A_HUMAN Fc fragment of IgG, low affinity IIa, receptor 272 Cytoplasmic (Potential). integral to membrane|plasma membrane IgG binding|receptor activity ovary(1) 1 all_cancers(52;4.89e-16)|all_hematologic(112;0.0207) BRCA - Breast invasive adenocarcinoma(70;0.00376) Abciximab(DB00054)|Adalimumab(DB00051)|Alefacept(DB00092)|Alemtuzumab(DB00087)|Basiliximab(DB00074)|Bevacizumab(DB00112)|Cetuximab(DB00002)|Daclizumab(DB00111)|Efalizumab(DB00095)|Etanercept(DB00005)|Gemtuzumab ozogamicin(DB00056)|Ibritumomab(DB00078)|Immune globulin(DB00028)|Muromonab(DB00075)|Natalizumab(DB00108)|Palivizumab(DB00110)|Rituximab(DB00073)|Tositumomab(DB00081)|Trastuzumab(DB00072) atcagaaagagacaacttgaa 0.209 NaN 0 0 0 0.021553 0 6 64 ATF6 22926 broad.mit.edu 37 1 161821558 161821558 + Missense_Mutation SNP G G A TCGA-FD-A3B8-01A-31D-A20D-08 TCGA-FD-A3B8-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7957bb77-8329-43a0-b1a8-140f2cb6b91b 83376d89-33f8-4ade-969d-d69391dd7cd8 g.chr1:161821558G>A uc001gbr.2 + 11 1433 c.1366G>A c.(1366-1368)GAA>AAA p.E456K ATF6_uc001gbq.1_Missense_Mutation_p.E456K NM_007348 NP_031374 P18850 ATF6A_HUMAN activating transcription factor 6 456 Lumenal (Potential). positive regulation of transcription from RNA polymerase II promoter involved in unfolded protein response|protein folding endoplasmic reticulum membrane|Golgi membrane|integral to membrane|nuclear envelope|nucleoplasm protein dimerization activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription coactivator activity ovary(2)|skin(1) 3 all_hematologic(112;0.156) BRCA - Breast invasive adenocarcinoma(70;0.00953) GGTGCTAACTGAAGAACCATT 0.383 NaN 0 0 0 0.047766 0 7 208 PAPPA2 60676 broad.mit.edu 37 1 176679172 176679172 + Missense_Mutation SNP G G C TCGA-FD-A3B8-01A-31D-A20D-08 TCGA-FD-A3B8-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7957bb77-8329-43a0-b1a8-140f2cb6b91b 83376d89-33f8-4ade-969d-d69391dd7cd8 g.chr1:176679172G>C uc001gkz.2 + 11 4675 c.3511G>C c.(3511-3513)GAG>CAG p.E1171Q PAPPA2_uc009www.2_RNA NM_020318 NP_064714 Q9BXP8 PAPP2_HUMAN pappalysin 2 isoform 1 1171 cell differentiation|proteolysis|regulation of cell growth extracellular region|intracellular|membrane metalloendopeptidase activity|zinc ion binding ovary(7)|central_nervous_system(5)|skin(2)|lung(1)|breast(1) 16 TGAACCTTTTGAGAGAAAAAC 0.428 NaN 0 0 0 0.069234 0 8 128 SOAT1 6646 broad.mit.edu 37 1 179308589 179308589 + Missense_Mutation SNP G G A TCGA-FD-A3B8-01A-31D-A20D-08 TCGA-FD-A3B8-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7957bb77-8329-43a0-b1a8-140f2cb6b91b 83376d89-33f8-4ade-969d-d69391dd7cd8 g.chr1:179308589G>A uc001gml.2 + 6 469 c.406G>A c.(406-408)GAC>AAC p.D136N SOAT1_uc010pni.1_Missense_Mutation_p.D71N|SOAT1_uc001gmm.2_Missense_Mutation_p.D78N|SOAT1_uc010pnj.1_5'UTR|SOAT1_uc010pnk.1_Missense_Mutation_p.D71N NM_003101 NP_003092 P35610 SOAT1_HUMAN sterol O-acyltransferase 1 136 cholesterol efflux|cholesterol esterification|cholesterol homeostasis|cholesterol metabolic process|cholesterol storage|macrophage derived foam cell differentiation|positive regulation of amyloid precursor protein biosynthetic process|very-low-density lipoprotein particle assembly endoplasmic reticulum membrane|integral to membrane|microsome cholesterol binding|cholesterol O-acyltransferase activity|fatty-acyl-CoA binding central_nervous_system(1)|skin(1) 2 Ezetimibe(DB00973)|Hesperetin(DB01094) GCTTGAAGTGGACCACATCAG 0.313 NaN 0 0 0 0.038147 0 5 125 HEATR1 55127 broad.mit.edu 37 1 236766632 236766632 + Missense_Mutation SNP C C G TCGA-FD-A3B8-01A-31D-A20D-08 TCGA-FD-A3B8-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7957bb77-8329-43a0-b1a8-140f2cb6b91b 83376d89-33f8-4ade-969d-d69391dd7cd8 g.chr1:236766632C>G uc001hyd.1 - 3 312 c.187G>C c.(187-189)GAG>CAG p.E63Q HEATR1_uc001hye.1_Missense_Mutation_p.E63Q NM_018072 NP_060542 Q9H583 HEAT1_HUMAN protein BAP28 63 rRNA processing nucleolus|ribonucleoprotein complex protein binding ovary(2)|skin(1) 3 Ovarian(103;0.0634)|Breast(184;0.133) all_cancers(173;0.0255)|Prostate(94;0.175) OV - Ovarian serous cystadenocarcinoma(106;0.00117) TCAAACTGCTCAAAGGAAGGA 0.393 NaN 0 0 0 0.004672 0 3 95 KIAA1217 56243 broad.mit.edu 37 10 24762442 24762442 + Missense_Mutation SNP G G A TCGA-FD-A3B8-01A-31D-A20D-08 TCGA-FD-A3B8-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7957bb77-8329-43a0-b1a8-140f2cb6b91b 83376d89-33f8-4ade-969d-d69391dd7cd8 g.chr10:24762442G>A uc001iru.3 + 6 1535 c.1132G>A c.(1132-1134)GAC>AAC p.D378N KIAA1217_uc001irs.2_Missense_Mutation_p.D298N|KIAA1217_uc001irt.3_Missense_Mutation_p.D378N|KIAA1217_uc010qcy.1_Missense_Mutation_p.D378N|KIAA1217_uc010qcz.1_Missense_Mutation_p.D378N|KIAA1217_uc001irv.1_Missense_Mutation_p.D228N|KIAA1217_uc010qda.1_RNA|KIAA1217_uc001irw.2_Missense_Mutation_p.D96N|KIAA1217_uc001irz.2_Missense_Mutation_p.D96N|KIAA1217_uc001irx.2_Missense_Mutation_p.D96N|KIAA1217_uc001iry.2_Missense_Mutation_p.D96N NM_019590 NP_062536 Q5T5P2 SKT_HUMAN sickle tail isoform 1 378 embryonic skeletal system development cytoplasm ovary(5)|skin(2) 7 GCCTGATGAAGACATGAGTGG 0.493 NaN 0 0 0 0.038147 0 7 161 ANO9 338440 broad.mit.edu 37 11 431763 431763 + Missense_Mutation SNP T T C TCGA-FD-A3B8-01A-31D-A20D-08 TCGA-FD-A3B8-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7957bb77-8329-43a0-b1a8-140f2cb6b91b 83376d89-33f8-4ade-969d-d69391dd7cd8 g.chr11:431763T>C uc001lpi.2 - 7 555 c.470A>G c.(469-471)GAG>GGG p.E157G ANO9_uc001lph.2_5'Flank|ANO9_uc010qvv.1_Missense_Mutation_p.E13G NM_001012302 NP_001012302 A1A5B4 ANO9_HUMAN tumor protein p53 inducible protein 5 157 Cytoplasmic (Potential). chloride channel complex chloride channel activity central_nervous_system(2)|ovary(1)|skin(1) 4 CAGGCGTCCCTCCCCCTGGCT 0.647 NaN 0 0 0 0.004672 0 3 57 GANAB 23193 broad.mit.edu 37 11 62407194 62407194 + Silent SNP C C G TCGA-FD-A3B8-01A-31D-A20D-08 TCGA-FD-A3B8-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7957bb77-8329-43a0-b1a8-140f2cb6b91b 83376d89-33f8-4ade-969d-d69391dd7cd8 g.chr11:62407194C>G uc001nub.2 - 2 81 c.48G>C c.(46-48)GCG>GCC p.A16A GANAB_uc001nua.2_Silent_p.A16A|GANAB_uc001nuc.2_5'UTR|GANAB_uc010rma.1_Intron|GANAB_uc010rmb.1_Intron NM_198334 NP_938148 Q14697 GANAB_HUMAN neutral alpha-glucosidase AB isoform 2 16 post-translational protein modification|protein folding|protein N-linked glycosylation via asparagine endoplasmic reticulum lumen|Golgi apparatus|melanosome carbohydrate binding|glucan 1,3-alpha-glucosidase activity|protein binding ovary(3)|central_nervous_system(1)|skin(1) 5 GTACCAAAGACGCCCAAGACC 0.473 NaN 0 0 0 0.004672 0 3 89 PCF11 51585 broad.mit.edu 37 11 82877510 82877510 + Missense_Mutation SNP C C G TCGA-FD-A3B8-01A-31D-A20D-08 TCGA-FD-A3B8-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7957bb77-8329-43a0-b1a8-140f2cb6b91b 83376d89-33f8-4ade-969d-d69391dd7cd8 g.chr11:82877510C>G uc001ozx.3 + 5 1916 c.1571C>G c.(1570-1572)TCT>TGT p.S524C PCF11_uc010rsu.1_Missense_Mutation_p.S524C NM_015885 NP_056969 O94913 PCF11_HUMAN pre-mRNA cleavage complex II protein Pcf11 524 mRNA 3'-end processing|mRNA cleavage|nuclear mRNA splicing, via spliceosome|termination of RNA polymerase II transcription mRNA cleavage factor complex ovary(1) 1 ATTCGCCAATCTGGAGCTAAG 0.443 NaN 0 0 0 0.02938 0 6 140 SIK2 23235 broad.mit.edu 37 11 111558730 111558730 + Missense_Mutation SNP C C G TCGA-FD-A3B8-01A-31D-A20D-08 TCGA-FD-A3B8-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7957bb77-8329-43a0-b1a8-140f2cb6b91b 83376d89-33f8-4ade-969d-d69391dd7cd8 g.chr11:111558730C>G uc001plt.2 + 4 440 c.322C>G c.(322-324)CTT>GTT p.L108V NM_015191 NP_056006 Q9H0K1 SIK2_HUMAN SNF1-like kinase 2 108 Protein kinase. intracellular protein kinase cascade|regulation of insulin receptor signaling pathway Golgi apparatus ATP binding|magnesium ion binding|protein binding|protein serine/threonine kinase activity central_nervous_system(2)|skin(1) 3 TACAGACTATCTTGCTAATCA 0.368 NaN 0 0 0 0.021553 0 4 91 KDM5A 5927 broad.mit.edu 37 12 417057 417057 + Missense_Mutation SNP T T C TCGA-FD-A3B8-01A-31D-A20D-08 TCGA-FD-A3B8-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7957bb77-8329-43a0-b1a8-140f2cb6b91b 83376d89-33f8-4ade-969d-d69391dd7cd8 g.chr12:417057T>C uc001qif.1 - 23 3856 c.3493A>G c.(3493-3495)ATT>GTT p.I1165V KDM5A_uc001qie.1_Missense_Mutation_p.I1165V NM_001042603 NP_001036068 P29375 KDM5A_HUMAN retinoblastoma binding protein 2 isoform 1 1165 PHD-type 2. chromatin modification|multicellular organismal development|positive regulation of transcription, DNA-dependent|transcription from RNA polymerase II promoter cytoplasm|nucleolus DNA binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|sequence-specific DNA binding transcription factor activity|zinc ion binding skin(2)|ovary(1) 3 TTGCGGCAAATGCAAAATTTT 0.453 NaN T NUP98 AML 0 0 0 0.038147 0 7 163 DDX23 9416 broad.mit.edu 37 12 49230553 49230553 + Missense_Mutation SNP C C G TCGA-FD-A3B8-01A-31D-A20D-08 TCGA-FD-A3B8-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7957bb77-8329-43a0-b1a8-140f2cb6b91b 83376d89-33f8-4ade-969d-d69391dd7cd8 g.chr12:49230553C>G uc001rsm.2 - 10 1126 c.1035G>C c.(1033-1035)AAG>AAC p.K345N NM_004818 NP_004809 Q9BUQ8 DDX23_HUMAN DEAD (Asp-Glu-Ala-Asp) box polypeptide 23 345 catalytic step 2 spliceosome|nucleoplasm|U5 snRNP ATP binding|ATP-dependent RNA helicase activity|nucleic acid binding|protein binding kidney(3)|ovary(1)|lung(1)|skin(1) 6 TGGCTTCCTTCTTACGAAGTT 0.532 NaN 0 0 0 0.069234 0 10 236 UHRF1BP1L 23074 broad.mit.edu 37 12 100476855 100476855 + Nonsense_Mutation SNP G G C TCGA-FD-A3B8-01A-31D-A20D-08 TCGA-FD-A3B8-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7957bb77-8329-43a0-b1a8-140f2cb6b91b 83376d89-33f8-4ade-969d-d69391dd7cd8 g.chr12:100476855G>C uc001tgq.2 - 11 1575 c.1346C>G c.(1345-1347)TCA>TGA p.S449* UHRF1BP1L_uc001tgr.2_Nonsense_Mutation_p.S449*|UHRF1BP1L_uc001tgp.2_Nonsense_Mutation_p.S99* NM_015054 NP_055869 A0JNW5 UH1BL_HUMAN UHRF1 (ICBP90) binding protein 1-like isoform a 449 ovary(2) 2 CTTAGCTTTTGATTGTTGAGA 0.338 NaN 0 0 0 0.014758 0 4 81 SACS 26278 broad.mit.edu 37 13 23905175 23905175 + Missense_Mutation SNP G G C TCGA-FD-A3B8-01A-31D-A20D-08 TCGA-FD-A3B8-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7957bb77-8329-43a0-b1a8-140f2cb6b91b 83376d89-33f8-4ade-969d-d69391dd7cd8 g.chr13:23905175G>C uc001uon.2 - 10 13429 c.12840C>G c.(12838-12840)TTC>TTG p.F4280L SACS_uc001uoo.2_Missense_Mutation_p.F4133L|SACS_uc001uop.1_Intron|SACS_uc001uoq.1_Intron NM_014363 NP_055178 Q9NZJ4 SACS_HUMAN sacsin 4280 cell death|negative regulation of inclusion body assembly|protein folding axon|cell body fiber|dendrite|mitochondrion|nucleus ATP binding|chaperone binding|Hsp70 protein binding|proteasome binding ovary(7)|skin(2)|upper_aerodigestive_tract(1)|large_intestine(1)|pancreas(1) 12 all_cancers(29;1.51e-22)|all_epithelial(30;7.82e-19)|all_lung(29;4.71e-18)|Lung SC(185;0.0225)|Breast(139;0.128) all cancers(112;0.00197)|Epithelial(112;0.00854)|OV - Ovarian serous cystadenocarcinoma(117;0.0298)|Lung(94;0.189) CTCTACCAGAGAAAAGAGGAG 0.478 NaN 0 0 0 0.014758 0 4 93 CDK8 1024 broad.mit.edu 37 13 26911762 26911762 + Missense_Mutation SNP G G A TCGA-FD-A3B8-01A-31D-A20D-08 TCGA-FD-A3B8-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7957bb77-8329-43a0-b1a8-140f2cb6b91b 83376d89-33f8-4ade-969d-d69391dd7cd8 g.chr13:26911762G>A uc001uqr.1 + 2 213 c.187G>A c.(187-189)GCA>ACA p.A63T CDK8_uc001uqs.1_Missense_Mutation_p.A63T|CDK8_uc001uqt.1_5'UTR NM_001260 NP_001251 P49336 CDK8_HUMAN cyclin-dependent kinase 8 63 Protein kinase. regulation of transcription, DNA-dependent|transcription, DNA-dependent mediator complex ATP binding|cyclin-dependent protein kinase activity|protein binding|RNA polymerase II carboxy-terminal domain kinase activity lung(2)|large_intestine(1)|ovary(1)|skin(1) 5 Colorectal(5;0.000442) Lung SC(185;0.0156)|Breast(139;0.147) all cancers(112;0.0384)|Epithelial(112;0.142)|OV - Ovarian serous cystadenocarcinoma(117;0.188) CTCTATGTCGGCATGTAGAGA 0.284 NaN 0 0 0 0.02938 0 4 138 PAN3 255967 broad.mit.edu 37 13 28794450 28794450 + Missense_Mutation SNP C C T TCGA-FD-A3B8-01A-31D-A20D-08 TCGA-FD-A3B8-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7957bb77-8329-43a0-b1a8-140f2cb6b91b 83376d89-33f8-4ade-969d-d69391dd7cd8 g.chr13:28794450C>T uc001urz.2 + 5 505 c.497C>T c.(496-498)TCT>TTT p.S166F PAN3_uc010tdo.1_Missense_Mutation_p.S312F|PAN3_uc001ury.2_5'UTR|PAN3_uc001urx.2_Missense_Mutation_p.S112F NM_175854 NP_787050 Q58A45 PAN3_HUMAN PABP1-dependent poly A-specific ribonuclease 312 Interaction with polyadenylate-binding protein. nuclear-transcribed mRNA catabolic process, nonsense-mediated decay|nuclear-transcribed mRNA poly(A) tail shortening centrosome|cytosol ATP binding|protein kinase activity ovary(1) 1 Acute lymphoblastic leukemia(6;0.04) Lung SC(185;0.0262) Colorectal(13;0.000334) all cancers(112;0.0102)|Epithelial(112;0.0803)|GBM - Glioblastoma multiforme(144;0.121)|OV - Ovarian serous cystadenocarcinoma(117;0.13)|Lung(94;0.174) TCAAATATGTCTGCCTTCTCT 0.438 NaN 0 0 0 0.038147 0 8 308 NFKBIA 4792 broad.mit.edu 37 14 35871254 35871254 + Missense_Mutation SNP C C T TCGA-FD-A3B8-01A-31D-A20D-08 TCGA-FD-A3B8-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7957bb77-8329-43a0-b1a8-140f2cb6b91b 83376d89-33f8-4ade-969d-d69391dd7cd8 g.chr14:35871254C>T uc001wtf.3 - 6 1029 c.919G>A c.(919-921)GAC>AAC p.D307N NFKBIA_uc001wte.3_Missense_Mutation_p.D217N|NFKBIA_uc001wtg.3_Missense_Mutation_p.D264N|NFKBIA_uc010amo.2_RNA NM_020529 NP_065390 P25963 IKBA_HUMAN nuclear factor of kappa light polypeptide gene 307 anti-apoptosis|apoptosis|cellular response to cold|cytoplasmic sequestering of NF-kappaB|innate immune response|interspecies interaction between organisms|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|negative regulation of DNA binding|negative regulation of lipid storage|negative regulation of macrophage derived foam cell differentiation|negative regulation of NF-kappaB transcription factor activity|nerve growth factor receptor signaling pathway|positive regulation of cellular protein metabolic process|positive regulation of cholesterol efflux|positive regulation of NF-kappaB transcription factor activity|positive regulation of transcription from RNA polymerase II promoter|T cell receptor signaling pathway|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway cytosol|I-kappaB/NF-kappaB complex|nucleus|plasma membrane identical protein binding|NF-kappaB binding|nuclear localization sequence binding|ubiquitin protein ligase binding breast(2) 2 Breast(36;0.0484)|Hepatocellular(127;0.158) Lung(238;9.25e-06)|LUAD - Lung adenocarcinoma(48;1.53e-05)|Epithelial(34;0.00314)|all cancers(34;0.00891) GBM - Glioblastoma multiforme(112;0.0222) AACACACAGTCATCATAGGGC 0.453 NaN 0 0 0 0.028581 0 13 126 LRFN5 145581 broad.mit.edu 37 14 42356424 42356424 + Missense_Mutation SNP G G A TCGA-FD-A3B8-01A-31D-A20D-08 TCGA-FD-A3B8-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7957bb77-8329-43a0-b1a8-140f2cb6b91b 83376d89-33f8-4ade-969d-d69391dd7cd8 g.chr14:42356424G>A uc001wvm.2 + 3 1794 c.596G>A c.(595-597)CGG>CAG p.R199Q LRFN5_uc010ana.2_Missense_Mutation_p.R199Q NM_152447 NP_689660 Q96NI6 LRFN5_HUMAN leucine rich repeat and fibronectin type III 199 Extracellular (Potential).|LRR 7. integral to membrane ovary(5)|pancreas(2)|central_nervous_system(1) 8 LUAD - Lung adenocarcinoma(50;0.0223)|Lung(238;0.0728) GBM - Glioblastoma multiforme(112;0.00847) AAGATGACTCGGTTAGATGTG 0.438 NaN HNSCC(30;0.082) 0 0 0 0.014758 0 4 31 FAM161B 145483 broad.mit.edu 37 14 74401048 74401048 + Missense_Mutation SNP C C G TCGA-FD-A3B8-01A-31D-A20D-08 TCGA-FD-A3B8-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7957bb77-8329-43a0-b1a8-140f2cb6b91b 83376d89-33f8-4ade-969d-d69391dd7cd8 g.chr14:74401048C>G uc001xpd.1 - 9 1961 c.1855G>C c.(1855-1857)GAA>CAA p.E619Q NM_152445 NP_689658 hypothetical protein LOC145483 ovary(1) 1 AGAGATCCTTCTAAACCCTGC 0.373 NaN 0 0 0 0.038147 0 6 100 ATP10A 57194 broad.mit.edu 37 15 25953415 25953415 + Missense_Mutation SNP G G C TCGA-FD-A3B8-01A-31D-A20D-08 TCGA-FD-A3B8-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7957bb77-8329-43a0-b1a8-140f2cb6b91b 83376d89-33f8-4ade-969d-d69391dd7cd8 g.chr15:25953415G>C uc010ayu.2 - 11 2483 c.2377C>G c.(2377-2379)CGG>GGG p.R793G NM_024490 NP_077816 O60312 AT10A_HUMAN ATPase, class V, type 10A 793 Cytoplasmic (Potential). ATP biosynthetic process|regulation of cell shape integral to membrane|plasma membrane ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|magnesium ion binding|phospholipid-translocating ATPase activity p.R793W(1) pancreas(2)|ovary(1)|breast(1)|liver(1) 5 all_cancers(20;5.16e-25)|all_lung(180;1.51e-14)|Acute lymphoblastic leukemia(1;2.53e-05)|all_hematologic(1;0.000267)|Breast(32;0.00125) all cancers(64;9.48e-07)|Epithelial(43;1.69e-06)|BRCA - Breast invasive adenocarcinoma(123;0.0252)|Lung(196;0.244) GTTTTGCTCCGAATCTTTTTT 0.537 NaN 0 0 0 0.014758 0 4 121 NDUFAF1 51103 broad.mit.edu 37 15 41689076 41689076 + Missense_Mutation SNP C C A TCGA-FD-A3B8-01A-31D-A20D-08 TCGA-FD-A3B8-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7957bb77-8329-43a0-b1a8-140f2cb6b91b 83376d89-33f8-4ade-969d-d69391dd7cd8 g.chr15:41689076C>A uc001znx.2 - 2 564 c.182G>T c.(181-183)GGA>GTA p.G61V NDUFAF1_uc010bcf.2_RNA NM_016013 NP_057097 Q9Y375 CIA30_HUMAN NADH dehydrogenase (ubiquinone) 1 alpha 61 mitochondrial electron transport, NADH to ubiquinone|protein complex assembly mitochondrial respiratory chain complex I unfolded protein binding ovary(1) 1 all_cancers(109;5.07e-19)|all_epithelial(112;2.43e-16)|Lung NSC(122;1.81e-11)|all_lung(180;4.81e-10)|Melanoma(134;0.0179)|Colorectal(260;0.0946)|Ovarian(310;0.143) OV - Ovarian serous cystadenocarcinoma(18;8e-17)|GBM - Glioblastoma multiforme(113;1.38e-06)|BRCA - Breast invasive adenocarcinoma(123;0.114) CTGGTGATCTCCTTGCAAATC 0.423 NaN 1 0 0.000442599 0.058154 0.000484752 7 205 LCTL 197021 broad.mit.edu 37 15 66853375 66853375 + Missense_Mutation SNP C C A TCGA-FD-A3B8-01A-31D-A20D-08 TCGA-FD-A3B8-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7957bb77-8329-43a0-b1a8-140f2cb6b91b 83376d89-33f8-4ade-969d-d69391dd7cd8 g.chr15:66853375C>A uc002aqc.2 - 6 806 c.674G>T c.(673-675)GGC>GTC p.G225V LCTL_uc002aqd.3_Missense_Mutation_p.G52V|LCTL_uc010bhw.2_Intron NM_207338 NP_997221 Q6UWM7 LCTL_HUMAN lactase-like precursor 225 Extracellular (Potential). carbohydrate metabolic process endoplasmic reticulum membrane|integral to membrane cation binding|hydrolase activity, hydrolyzing O-glycosyl compounds ovary(2) 2 CTTGTACAGGCCGGTGCCGCG 0.602 NaN 1 0 0.00198382 0.02938 0.00212222 6 71 NOX5 79400 broad.mit.edu 37 15 69328242 69328242 + Missense_Mutation SNP C C G TCGA-FD-A3B8-01A-31D-A20D-08 TCGA-FD-A3B8-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7957bb77-8329-43a0-b1a8-140f2cb6b91b 83376d89-33f8-4ade-969d-d69391dd7cd8 g.chr15:69328242C>G uc002ars.1 + 7 1174 c.1154C>G c.(1153-1155)TCC>TGC p.S385C NOX5_uc002arp.1_Missense_Mutation_p.S367C|NOX5_uc002arq.1_Missense_Mutation_p.S339C|NOX5_uc010bid.1_Missense_Mutation_p.S350C|NOX5_uc002arr.1_Missense_Mutation_p.S357C|NOX5_uc010bie.1_Missense_Mutation_p.S185C|NOX5_uc010bif.1_RNA NM_024505 NP_078781 Q96PH1 NOX5_HUMAN NADPH oxidase, EF-hand calcium binding domain 5 385 Ferric oxidoreductase.|Cytoplasmic (Potential). angiogenesis|angiogenesis|cytokine secretion|cytokinesis|electron transport chain|endothelial cell proliferation|induction of apoptosis|positive regulation of reactive oxygen species metabolic process|regulation of fusion of sperm to egg plasma membrane|regulation of proton transport|superoxide anion generation endoplasmic reticulum|endoplasmic reticulum|integral to membrane calcium ion binding|electron carrier activity|flavin adenine dinucleotide binding|heme binding|hydrogen ion channel activity|NADP binding|superoxide-generating NADPH oxidase activity breast(1)|pancreas(1) 2 TTCATCTGCTCCAGTTCCTGC 0.597 NaN 0 0 0 0.02938 0 6 185 FAM169B 283777 broad.mit.edu 37 15 98995216 98995216 + Missense_Mutation SNP C C T TCGA-FD-A3B8-01A-31D-A20D-08 TCGA-FD-A3B8-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7957bb77-8329-43a0-b1a8-140f2cb6b91b 83376d89-33f8-4ade-969d-d69391dd7cd8 g.chr15:98995216C>T uc002buk.1 - 5 458 c.208G>A c.(208-210)GGT>AGT p.G70S NM_182562 NP_872368 Q8N8A8 F169B_HUMAN hypothetical protein LOC283777 70 0 TAGCATGCACCGGTGCCATCA 0.592 NaN 0 0 0 0.004672 0 3 63 NEURL4 84461 broad.mit.edu 37 17 7230206 7230206 + Missense_Mutation SNP C C A TCGA-FD-A3B8-01A-31D-A20D-08 TCGA-FD-A3B8-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7957bb77-8329-43a0-b1a8-140f2cb6b91b 83376d89-33f8-4ade-969d-d69391dd7cd8 g.chr17:7230206C>A uc002gga.1 - 4 923 c.916G>T c.(916-918)GCT>TCT p.A306S NEURL4_uc002ggb.1_Missense_Mutation_p.A306S|NEURL4_uc002ggc.1_5'UTR NM_032442 NP_115818 Q96JN8 NEUL4_HUMAN neuralized homolog 4 isoform 1 306 protein binding upper_aerodigestive_tract(1)|ovary(1) 2 GAGGTGGCAGCACCGCTAGAT 0.562 NaN 1 0 8.12818e-05 0.02938 9.00955e-05 5 91 TP53 7157 broad.mit.edu 37 17 7578419 7578419 + Nonsense_Mutation SNP C C A TCGA-FD-A3B8-01A-31D-A20D-08 TCGA-FD-A3B8-10A-01D-A20D-08 C A C C Valid Somatic Phase_I WXS Fluidigm Illumina GAIIx 7957bb77-8329-43a0-b1a8-140f2cb6b91b 83376d89-33f8-4ade-969d-d69391dd7cd8 g.chr17:7578419C>A uc002gim.2 - 5 705 c.511G>T c.(511-513)GAG>TAG p.E171* TP53_uc002gig.1_Nonsense_Mutation_p.E171*|TP53_uc002gih.2_Nonsense_Mutation_p.E171*|TP53_uc010cne.1_5'Flank|TP53_uc010cnf.1_Nonsense_Mutation_p.E39*|TP53_uc010cng.1_Nonsense_Mutation_p.E39*|TP53_uc002gii.1_Nonsense_Mutation_p.E39*|TP53_uc010cnh.1_Nonsense_Mutation_p.E171*|TP53_uc010cni.1_Nonsense_Mutation_p.E171*|TP53_uc002gij.2_Nonsense_Mutation_p.E171*|TP53_uc010cnj.1_RNA|TP53_uc002gin.2_Nonsense_Mutation_p.E78*|TP53_uc002gio.2_Nonsense_Mutation_p.E39*|TP53_uc010vug.1_Nonsense_Mutation_p.E132* NM_001126112 NP_001119584 P04637 P53_HUMAN tumor protein p53 isoform a 171 Required for interaction with FBXO42.||Interaction with HIPK1 (By similarity).|Interaction with AXIN1 (By similarity). E -> G (in sporadic cancers; somatic mutation).|E -> K (in sporadic cancers; somatic mutation).|E -> V (in sporadic cancers; somatic mutation).|E -> D (in sporadic cancers; somatic mutation).|E -> A (in a sporadic cancer; somatic mutation).|E -> Q (in a sporadic cancer; 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.E171*(10)|p.E171K(8)|p.0?(7)|p.E171G(3)|p.E171Q(3)|p.E171fs*10(3)|p.E171fs*3(2)|p.E171V(2)|p.E171D(2)|p.V157_C176del20(1)|p.K164_P219del(1)|p.P151_V173del23(1)|p.E171fs*61(1)|p.E171fs*9(1)|p.T170fs*2(1)|p.E171fs*1(1)|p.T170fs*8(1)|p.E171_V172delEV(1)|p.H168fs*69(1)|p.T170_E171insXX(1)|p.E171_H179delEVVRRCPHH(1)|p.S149fs*72(1)|p.E171A(1)|p.H168fs*3(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) CTCACAACCTCCGTCATGTGC 0.662 111 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-Fraumeni_syndrome|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) 1 0 5.9392e-07 0.021553 6.74576e-07 5 75 C17orf48 56985 broad.mit.edu 37 17 10608569 10608569 + Missense_Mutation SNP G G A TCGA-FD-A3B8-01A-31D-A20D-08 TCGA-FD-A3B8-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7957bb77-8329-43a0-b1a8-140f2cb6b91b 83376d89-33f8-4ade-969d-d69391dd7cd8 g.chr17:10608569G>A uc002gmt.2 + 2 401 c.326G>A c.(325-327)GGA>GAA p.G109E C17orf48_uc002gmu.2_RNA|C17orf48_uc002gmv.2_RNA|C17orf48_uc010vvg.1_Missense_Mutation_p.G109E NM_020233 NP_064618 Q3LIE5 ADPRM_HUMAN ADP-ribose/CDP-alcohol pyrophosphatase 109 ADP-ribose diphosphatase activity|CDP-glycerol diphosphatase activity|metal ion binding 0 CATACATGGGGAAACCATGAA 0.358 NaN 0 0 0 0.02938 0 5 77 ITGA2B 3674 broad.mit.edu 37 17 42458417 42458417 + Missense_Mutation SNP G G A TCGA-FD-A3B8-01A-31D-A20D-08 TCGA-FD-A3B8-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7957bb77-8329-43a0-b1a8-140f2cb6b91b 83376d89-33f8-4ade-969d-d69391dd7cd8 g.chr17:42458417G>A uc002igt.1 - 13 1255 c.1223C>T c.(1222-1224)GCT>GTT p.A408V ITGA2B_uc002igu.1_5'UTR NM_000419 NP_000410 P08514 ITA2B_HUMAN integrin alpha 2b preproprotein 408 Extracellular (Potential).|FG-GAP 6. axon guidance|integrin-mediated signaling pathway|platelet activation|platelet degranulation integrin complex|platelet alpha granule membrane identical protein binding|receptor activity ovary(2)|lung(1) 3 Prostate(33;0.0181) BRCA - Breast invasive adenocarcinoma(366;0.191) Tirofiban(DB00775) GTAGGGGGCAGCCACTGCAAT 0.577 NaN 0 0 0 0.014758 0 3 43 TBX4 9496 broad.mit.edu 37 17 59560439 59560439 + Silent SNP G G A TCGA-FD-A3B8-01A-31D-A20D-08 TCGA-FD-A3B8-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7957bb77-8329-43a0-b1a8-140f2cb6b91b 83376d89-33f8-4ade-969d-d69391dd7cd8 g.chr17:59560439G>A uc002izi.2 + 8 1245 c.1200G>A c.(1198-1200)GAG>GAA p.E400E TBX4_uc010ddo.2_Silent_p.E401E|TBX4_uc010woy.1_Silent_p.E401E NM_018488 NP_060958 P57082 TBX4_HUMAN T-box 4 400 leg morphogenesis|skeletal system morphogenesis nucleus DNA binding|sequence-specific DNA binding transcription factor activity skin(2) 2 CAGGGCCCGAGATTGCCGGGG 0.607 NaN 0 0 0 0.047766 0 8 90 CAPN12 147968 broad.mit.edu 37 19 39226178 39226178 + Silent SNP G G T TCGA-FD-A3B8-01A-31D-A20D-08 TCGA-FD-A3B8-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7957bb77-8329-43a0-b1a8-140f2cb6b91b 83376d89-33f8-4ade-969d-d69391dd7cd8 g.chr19:39226178G>T uc002ojd.1 - 13 1899 c.1590C>A c.(1588-1590)ATC>ATA p.I530I CAPN12_uc010egd.1_5'Flank|CAPN12_uc002ojc.1_5'UTR NM_144691 NP_653292 Q6ZSI9 CAN12_HUMAN calpain 12 530 Domain III. proteolysis intracellular calcium ion binding|calcium-dependent cysteine-type endopeptidase activity central_nervous_system(1)|pancreas(1) 2 all_cancers(60;2.87e-05)|Ovarian(47;0.0454) Lung(45;0.00416)|LUSC - Lung squamous cell carcinoma(53;0.00741) TCACGTCGTCGATCTCCCTGC 0.632 NaN 1 0 1.23904e-05 0.014758 1.39014e-05 5 34 TPRX1 284355 broad.mit.edu 37 19 48305091 48305091 + Missense_Mutation SNP C C G TCGA-FD-A3B8-01A-31D-A20D-08 TCGA-FD-A3B8-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7957bb77-8329-43a0-b1a8-140f2cb6b91b 83376d89-33f8-4ade-969d-d69391dd7cd8 g.chr19:48305091C>G uc002php.1 - 2 1248 c.1177G>C c.(1177-1179)GAG>CAG p.E393Q NM_198479 NP_940881 Q8N7U7 TPRX1_HUMAN tetra-peptide repeat homeobox 393 nucleus sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity 0 all_cancers(25;3.02e-09)|all_epithelial(76;7e-07)|all_lung(116;2.48e-06)|Lung NSC(112;5.15e-06)|Ovarian(192;0.0139)|all_neural(266;0.0146)|Breast(70;0.133) OV - Ovarian serous cystadenocarcinoma(262;0.000241)|all cancers(93;0.00036)|Epithelial(262;0.0127)|GBM - Glioblastoma multiforme(486;0.048) CCACCCTCCTCTTGGGGCTGA 0.532 NaN 0 0 0 0.021553 0 6 173 NEB 4703 broad.mit.edu 37 2 152543972 152543972 + Missense_Mutation SNP C C G TCGA-FD-A3B8-01A-31D-A20D-08 TCGA-FD-A3B8-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7957bb77-8329-43a0-b1a8-140f2cb6b91b 83376d89-33f8-4ade-969d-d69391dd7cd8 g.chr2:152543972C>G uc010fnx.2 - 27 2789 c.2598G>C c.(2596-2598)AAG>AAC p.K866N NM_004543 NP_004534 P20929 NEBU_HUMAN nebulin isoform 3 866 Nebulin 20. muscle filament sliding|muscle organ development|regulation of actin filament length|somatic muscle development actin cytoskeleton|cytosol|Z disc actin binding|structural constituent of muscle ovary(8)|large_intestine(5)|breast(3)|central_nervous_system(2)|skin(1)|pancreas(1) 20 BRCA - Breast invasive adenocarcinoma(221;0.219) AGTGCAGCATCTTTGGATCGT 0.438 NaN 0 0 0 0.047766 0 8 178 TTN 7273 broad.mit.edu 37 2 179474565 179474565 + Silent SNP C C T TCGA-FD-A3B8-01A-31D-A20D-08 TCGA-FD-A3B8-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7957bb77-8329-43a0-b1a8-140f2cb6b91b 83376d89-33f8-4ade-969d-d69391dd7cd8 g.chr2:179474565C>T uc010zfg.1 - 221 44105 c.43881G>A c.(43879-43881)AAG>AAA p.K14627K uc002ump.1_Intron|TTN_uc010zfh.1_Silent_p.K8322K|TTN_uc010zfi.1_Silent_p.K8255K|TTN_uc010zfj.1_Silent_p.K8130K NM_133378 NP_596869 Q8WZ42 TITIN_HUMAN titin isoform N2-A 15554 ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity ovary(58)|stomach(19)|large_intestine(17)|lung(16)|skin(16)|breast(10)|pancreas(7)|kidney(4)|central_nervous_system(3)|urinary_tract(2)|upper_aerodigestive_tract(1) 153 OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134) CATTGCATCTCTTCCACCTTT 0.473 NaN 0 0 0 0.020292 0 12 564 C20orf70 140683 broad.mit.edu 37 20 31757018 31757018 + Missense_Mutation SNP G G C TCGA-FD-A3B8-01A-31D-A20D-08 TCGA-FD-A3B8-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7957bb77-8329-43a0-b1a8-140f2cb6b91b 83376d89-33f8-4ade-969d-d69391dd7cd8 g.chr20:31757018G>C uc002wyo.1 + 2 138 c.67G>C c.(67-69)GAC>CAC p.D23H NM_080574 NP_542141 Q96DR5 SPLC2_HUMAN chromosome 20 open reading frame 70 precursor 23 extracellular region lipid binding ovary(1)|central_nervous_system(1) 2 GTCTCTTCTTGACAATCTTGG 0.463 NaN 0 0 0 0.009096 0 4 186 CECR2 27443 broad.mit.edu 37 22 17976598 17976598 + Missense_Mutation SNP G G A TCGA-FD-A3B8-01A-31D-A20D-08 TCGA-FD-A3B8-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7957bb77-8329-43a0-b1a8-140f2cb6b91b 83376d89-33f8-4ade-969d-d69391dd7cd8 g.chr22:17976598G>A uc010gqw.1 + 2 385 c.259G>A c.(259-261)GAT>AAT p.D87N CECR2_uc010gqv.1_5'UTR|CECR2_uc002zml.2_5'UTR|CECR2_uc002zmm.1_5'Flank NM_031413 NP_113601 Q9BXF3 CECR2_HUMAN cat eye syndrome chromosome region, candidate 2 129 chromatin modification|cytokinesis|cytoskeleton organization|DNA fragmentation involved in apoptotic nuclear change|vesicle-mediated transport protein binding ovary(1)|skin(1) 2 all_epithelial(15;0.139) Lung(27;0.146) GGATGCAGACGATGTCTTCGA 0.512 NaN 0 0 0 0.014758 0 4 125 EP300 2033 broad.mit.edu 37 22 41545867 41545867 + Missense_Mutation SNP C C T TCGA-FD-A3B8-01A-31D-A20D-08 TCGA-FD-A3B8-10A-01D-A20D-08 C T C C Valid Somatic Phase_I WXS Fluidigm Illumina GAIIx 7957bb77-8329-43a0-b1a8-140f2cb6b91b 83376d89-33f8-4ade-969d-d69391dd7cd8 g.chr22:41545867C>T uc003azl.3 + 14 2877 c.2482C>T c.(2482-2484)CAT>TAT p.H828Y NM_001429 NP_001420 Q09472 EP300_HUMAN E1A binding protein p300 828 apoptosis|cell cycle|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|histone H4 acetylation|interspecies interaction between organisms|N-terminal peptidyl-lysine acetylation|positive regulation of sequence-specific DNA binding transcription factor activity|positive regulation of transcription from RNA polymerase II promoter|regulation of androgen receptor signaling pathway|response to estrogen stimulus|response to hypoxia centrosome|histone acetyltransferase complex androgen receptor binding|beta-catenin binding|DNA binding|histone acetyltransferase activity|RNA polymerase II activating transcription factor binding|transcription coactivator activity|zinc ion binding haematopoietic_and_lymphoid_tissue(22)|large_intestine(13)|breast(9)|central_nervous_system(5)|upper_aerodigestive_tract(4)|pancreas(4)|lung(3)|ovary(2)|stomach(1)|skin(1) 64 ACCAGCTCTTCATCAGAATTC 0.552 NaN T| N|F|Mis|O MLL|RUNXBP2 colorectal|breast|pancreatic|AML|ALL|DLBCL Rubinstein-Taybi_syndrome 0 0 0 0.021553 0 4 58 EP300 2033 broad.mit.edu 37 22 41545870 41545870 + Nonsense_Mutation SNP C C T TCGA-FD-A3B8-01A-31D-A20D-08 TCGA-FD-A3B8-10A-01D-A20D-08 C T C C Valid Somatic Phase_I WXS Fluidigm Illumina GAIIx 7957bb77-8329-43a0-b1a8-140f2cb6b91b 83376d89-33f8-4ade-969d-d69391dd7cd8 g.chr22:41545870C>T uc003azl.3 + 14 2880 c.2485C>T c.(2485-2487)CAG>TAG p.Q829* NM_001429 NP_001420 Q09472 EP300_HUMAN E1A binding protein p300 829 apoptosis|cell cycle|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|histone H4 acetylation|interspecies interaction between organisms|N-terminal peptidyl-lysine acetylation|positive regulation of sequence-specific DNA binding transcription factor activity|positive regulation of transcription from RNA polymerase II promoter|regulation of androgen receptor signaling pathway|response to estrogen stimulus|response to hypoxia centrosome|histone acetyltransferase complex androgen receptor binding|beta-catenin binding|DNA binding|histone acetyltransferase activity|RNA polymerase II activating transcription factor binding|transcription coactivator activity|zinc ion binding haematopoietic_and_lymphoid_tissue(22)|large_intestine(13)|breast(9)|central_nervous_system(5)|upper_aerodigestive_tract(4)|pancreas(4)|lung(3)|ovary(2)|stomach(1)|skin(1) 64 AGCTCTTCATCAGAATTCACC 0.562 NaN T| N|F|Mis|O MLL|RUNXBP2 colorectal|breast|pancreatic|AML|ALL|DLBCL Rubinstein-Taybi_syndrome 0 0 0 0.021553 0 4 59 GRM2 2912 broad.mit.edu 37 3 51749893 51749893 + Missense_Mutation SNP G G A TCGA-FD-A3B8-01A-31D-A20D-08 TCGA-FD-A3B8-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7957bb77-8329-43a0-b1a8-140f2cb6b91b 83376d89-33f8-4ade-969d-d69391dd7cd8 g.chr3:51749893G>A uc010hlv.2 + 4 2343 c.2104G>A c.(2104-2106)GCA>ACA p.A702T GRM2_uc003dbo.3_Missense_Mutation_p.A84T|GRM2_uc010hlu.2_RNA NM_000839 NP_000830 Q14416 GRM2_HUMAN glutamate receptor, metabotropic 2 isoform a 702 Extracellular (Potential). synaptic transmission integral to plasma membrane lung(1) 1 BRCA - Breast invasive adenocarcinoma(193;8.01e-05)|Kidney(197;0.000539)|KIRC - Kidney renal clear cell carcinoma(197;0.000716) Acamprosate(DB00659)|Nicotine(DB00184) GGTGGTGGAGGCACCGGGCAC 0.652 NaN 0 0 0 0.009096 0 3 44 NAALADL2 254827 broad.mit.edu 37 3 175293969 175293969 + Silent SNP A A G TCGA-FD-A3B8-01A-31D-A20D-08 TCGA-FD-A3B8-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7957bb77-8329-43a0-b1a8-140f2cb6b91b 83376d89-33f8-4ade-969d-d69391dd7cd8 g.chr3:175293969A>G uc003fit.2 + 10 1881 c.1794A>G c.(1792-1794)ACA>ACG p.T598T NAALADL2_uc003fiu.1_Silent_p.T591T|NAALADL2_uc010hwy.1_Silent_p.T372T NM_207015 NP_996898 Q58DX5 NADL2_HUMAN N-acetylated alpha-linked acidic dipeptidase 2 598 Extracellular (Potential). proteolysis integral to membrane peptidase activity pancreas(1) 1 Ovarian(172;0.0102) all_cancers(1;0.0272)|all_epithelial(1;0.0553) OV - Ovarian serous cystadenocarcinoma(80;9.26e-28) Colorectal(1;1.66e-10)|COAD - Colon adenocarcinoma(1;2.1e-07)|STAD - Stomach adenocarcinoma(1;0.00261)|READ - Rectum adenocarcinoma(3;0.0284) ACATCAAAACATTAGAGGTGA 0.348 NaN 0 0 0 0.014758 0 5 175 TP63 8626 broad.mit.edu 37 3 189455608 189455608 + Missense_Mutation SNP G G A TCGA-FD-A3B8-01A-31D-A20D-08 TCGA-FD-A3B8-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7957bb77-8329-43a0-b1a8-140f2cb6b91b 83376d89-33f8-4ade-969d-d69391dd7cd8 g.chr3:189455608G>A uc003fry.2 + 2 231 c.142G>A c.(142-144)GAA>AAA p.E48K TP63_uc003frx.2_Missense_Mutation_p.E48K|TP63_uc003frz.2_Missense_Mutation_p.E48K|TP63_uc010hzc.1_Missense_Mutation_p.E48K NM_003722 NP_003713 Q9H3D4 P63_HUMAN tumor protein p63 isoform 1 48 Transcription activation. anti-apoptosis|cellular response to UV|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|mitotic cell cycle G1/S transition DNA damage checkpoint|negative regulation of transcription from RNA polymerase II promoter|Notch signaling pathway|positive regulation of Notch signaling pathway|protein homotetramerization|regulation of neuron apoptosis|response to gamma radiation|response to X-ray chromatin|cytosol|dendrite|Golgi apparatus|transcription factor complex chromatin binding|damaged DNA binding|double-stranded DNA binding|identical protein binding|metal ion binding|p53 binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity skin(5)|lung(4)|ovary(2)|upper_aerodigestive_tract(1) 12 all_cancers(143;3.35e-10)|Ovarian(172;0.0925) Lung(62;3.33e-05) GBM - Glioblastoma multiforme(93;0.0227) ACAGACAAATGAATTCCTCAG 0.378 NaN Hay-Wells_syndrome HNSCC(45;0.13) 0 0 0 0.009096 0 4 102 MFI2 4241 broad.mit.edu 37 3 196730882 196730882 + Missense_Mutation SNP G G A TCGA-FD-A3B8-01A-31D-A20D-08 TCGA-FD-A3B8-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7957bb77-8329-43a0-b1a8-140f2cb6b91b 83376d89-33f8-4ade-969d-d69391dd7cd8 g.chr3:196730882G>A uc003fxk.3 - 15 2140 c.2027C>T c.(2026-2028)GCC>GTC p.A676V uc003fxi.2_5'Flank|uc003fxj.1_Intron NM_005929 NP_005920 P08582 TRFM_HUMAN melanoma-associated antigen p97 isoform 1 676 Transferrin-like 2. cellular iron ion homeostasis|iron ion transport anchored to membrane|extracellular region|integral to plasma membrane ferric iron binding|protein binding 0 all_cancers(143;3.95e-09)|Ovarian(172;0.0634)|Breast(254;0.0838) Epithelial(36;4.55e-24)|all cancers(36;2.87e-22)|OV - Ovarian serous cystadenocarcinoma(49;1.76e-18)|LUSC - Lung squamous cell carcinoma(58;1.51e-06)|Lung(62;1.95e-06) GBM - Glioblastoma multiforme(46;0.00536) CCGGACGGTGGCATCCTTGAA 0.587 NaN 0 0 0 0.049695 0 16 596 OCIAD2 132299 broad.mit.edu 37 4 48894829 48894829 + Missense_Mutation SNP C C G TCGA-FD-A3B8-01A-31D-A20D-08 TCGA-FD-A3B8-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7957bb77-8329-43a0-b1a8-140f2cb6b91b 83376d89-33f8-4ade-969d-d69391dd7cd8 g.chr4:48894829C>G uc003gyt.2 - 6 546 c.343G>C c.(343-345)GAT>CAT p.D115H OCIAD2_uc003gyu.2_Intron NM_001014446 NP_001014446 Q56VL3 OCAD2_HUMAN OCIA domain containing 2 isoform 1 115 OCIA. endosome 0 CGGAGCTGATCTTCAAAAAAA 0.393 NaN 0 0 0 0.047766 0 7 330 SPRY1 10252 broad.mit.edu 37 4 124322883 124322883 + Missense_Mutation SNP C C A TCGA-FD-A3B8-01A-31D-A20D-08 TCGA-FD-A3B8-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7957bb77-8329-43a0-b1a8-140f2cb6b91b 83376d89-33f8-4ade-969d-d69391dd7cd8 g.chr4:124322883C>A uc003ifa.2 + 2 325 c.137C>A c.(136-138)GCC>GAC p.A46D SPRY1_uc003ifb.2_Missense_Mutation_p.A46D NM_199327 NP_955359 O43609 SPY1_HUMAN sprouty homolog 1, antagonist of FGF signaling 46 epidermal growth factor receptor signaling pathway|negative regulation of epidermal growth factor receptor signaling pathway cytosol|lamellipodium|plasma membrane skin(2)|ovary(1) 3 CAGATCAAGGCCATAAGAGGC 0.463 NaN 1 0 0.000602214 0.014758 0.000651809 5 182 FAT4 79633 broad.mit.edu 37 4 126412493 126412493 + Missense_Mutation SNP C C G TCGA-FD-A3B8-01A-31D-A20D-08 TCGA-FD-A3B8-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7957bb77-8329-43a0-b1a8-140f2cb6b91b 83376d89-33f8-4ade-969d-d69391dd7cd8 g.chr4:126412493C>G uc003ifj.3 + 17 14516 c.14516C>G c.(14515-14517)TCT>TGT p.S4839C FAT4_uc011cgp.1_Missense_Mutation_p.S3080C|FAT4_uc003ifi.1_Missense_Mutation_p.S2316C NM_024582 NP_078858 Q6V0I7 FAT4_HUMAN FAT tumor suppressor homolog 4 precursor 4839 Cytoplasmic (Potential). homophilic cell adhesion integral to membrane|plasma membrane calcium ion binding ovary(9)|skin(5)|upper_aerodigestive_tract(2)|pancreas(2) 18 CCAGAATCCTCTTCTGATAGT 0.468 NaN 0 0 0 0.009096 0 4 86 DNAH5 1767 broad.mit.edu 37 5 13729630 13729630 + Missense_Mutation SNP G G A TCGA-FD-A3B8-01A-31D-A20D-08 TCGA-FD-A3B8-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7957bb77-8329-43a0-b1a8-140f2cb6b91b 83376d89-33f8-4ade-969d-d69391dd7cd8 g.chr5:13729630G>A uc003jfd.2 - 69 11843 c.11801C>T c.(11800-11802)CCA>CTA p.P3934L DNAH5_uc003jfc.2_Missense_Mutation_p.P102L NM_001369 NP_001360 Q8TE73 DYH5_HUMAN dynein, axonemal, heavy chain 5 3934 microtubule-based movement cilium axoneme|cytoplasm|microtubule ATP binding|ATPase activity|microtubule motor activity ovary(14)|skin(13)|upper_aerodigestive_tract(1)|central_nervous_system(1)|breast(1)|pancreas(1) 31 Lung NSC(4;0.00476) CCATTTTGATGGTTTTGGAGG 0.358 NaN Kartagener_syndrome 0 0 0 0.009096 0 4 117 DNAH5 1767 broad.mit.edu 37 5 13844961 13844961 + Silent SNP G G C TCGA-FD-A3B8-01A-31D-A20D-08 TCGA-FD-A3B8-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7957bb77-8329-43a0-b1a8-140f2cb6b91b 83376d89-33f8-4ade-969d-d69391dd7cd8 g.chr5:13844961G>C uc003jfd.2 - 32 5298 c.5256C>G c.(5254-5256)GTC>GTG p.V1752V NM_001369 NP_001360 Q8TE73 DYH5_HUMAN dynein, axonemal, heavy chain 5 1752 Stem (By similarity). microtubule-based movement cilium axoneme|cytoplasm|microtubule ATP binding|ATPase activity|microtubule motor activity ovary(14)|skin(13)|upper_aerodigestive_tract(1)|central_nervous_system(1)|breast(1)|pancreas(1) 31 Lung NSC(4;0.00476) CGTGGAACTTGACAGATTTAA 0.468 NaN Kartagener_syndrome 0 0 0 0.02938 0 6 237 ADAMTS12 81792 broad.mit.edu 37 5 33588860 33588860 + Silent SNP C C T TCGA-FD-A3B8-01A-31D-A20D-08 TCGA-FD-A3B8-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7957bb77-8329-43a0-b1a8-140f2cb6b91b 83376d89-33f8-4ade-969d-d69391dd7cd8 g.chr5:33588860C>T uc003jia.1 - 18 2872 c.2709G>A c.(2707-2709)GAG>GAA p.E903E ADAMTS12_uc010iuq.1_Silent_p.E818E NM_030955 NP_112217 P58397 ATS12_HUMAN ADAM metallopeptidase with thrombospondin type 1 903 TSP type-1 3. proteolysis proteinaceous extracellular matrix metalloendopeptidase activity|zinc ion binding ovary(4)|skin(2)|upper_aerodigestive_tract(1)|lung(1)|kidney(1) 9 TTCGCTTCTTCTCCCCGTGGG 0.607 NaN HNSCC(64;0.19) OREG0016553 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 0 0 0 0.049695 0 16 84 MSH3 4437 broad.mit.edu 37 5 79974807 79974807 + Nonsense_Mutation SNP C C G TCGA-FD-A3B8-01A-31D-A20D-08 TCGA-FD-A3B8-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7957bb77-8329-43a0-b1a8-140f2cb6b91b 83376d89-33f8-4ade-969d-d69391dd7cd8 g.chr5:79974807C>G uc003kgz.2 + 8 1488 c.1235C>G c.(1234-1236)TCA>TGA p.S412* NM_002439 NP_002430 P20585 MSH3_HUMAN mutS homolog 3 412 maintenance of DNA repeat elements|meiotic mismatch repair|negative regulation of DNA recombination|positive regulation of helicase activity|reciprocal meiotic recombination|somatic recombination of immunoglobulin gene segments MutSbeta complex|nuclear chromosome ATP binding|DNA-dependent ATPase activity|double-strand/single-strand DNA junction binding|enzyme binding|loop DNA binding|Y-form DNA binding lung(2)|ovary(1)|breast(1) 4 Lung NSC(167;0.00479)|all_lung(232;0.00507)|Ovarian(174;0.0261)|Breast(144;0.244) OV - Ovarian serous cystadenocarcinoma(54;2.38e-45)|Epithelial(54;1.58e-38)|all cancers(79;4.93e-33) GCTTCTCGTTCAGAGCTAGAA 0.488 NaN MMR 0 0 0 0.02938 0 6 224 LNPEP 4012 broad.mit.edu 37 5 96341855 96341855 + Missense_Mutation SNP C C G TCGA-FD-A3B8-01A-31D-A20D-08 TCGA-FD-A3B8-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7957bb77-8329-43a0-b1a8-140f2cb6b91b 83376d89-33f8-4ade-969d-d69391dd7cd8 g.chr5:96341855C>G uc003kmv.1 + 10 2378 c.1864C>G c.(1864-1866)CAA>GAA p.Q622E LNPEP_uc003kmw.1_Missense_Mutation_p.Q608E NM_005575 NP_005566 Q9UIQ6 LCAP_HUMAN leucyl/cystinyl aminopeptidase isoform 1 622 Extracellular (Potential). cell-cell signaling|female pregnancy|proteolysis extracellular region|integral to plasma membrane aminopeptidase activity|metallopeptidase activity|zinc ion binding ovary(3)|breast(1) 4 all_cancers(142;7e-07)|all_epithelial(76;9.52e-10)|all_lung(232;0.00101)|Lung NSC(167;0.00137)|Ovarian(225;0.024)|Colorectal(57;0.0269)|Breast(839;0.244) COAD - Colon adenocarcinoma(37;0.072) AGTGACTGTTCAAAAGAAAGG 0.333 NaN 0 0 0 0.009096 0 3 69 PCDHA1 56147 broad.mit.edu 37 5 140167577 140167577 + Missense_Mutation SNP C C T TCGA-FD-A3B8-01A-31D-A20D-08 TCGA-FD-A3B8-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7957bb77-8329-43a0-b1a8-140f2cb6b91b 83376d89-33f8-4ade-969d-d69391dd7cd8 g.chr5:140167577C>T uc003lhb.2 + 1 1702 c.1702C>T c.(1702-1704)CCT>TCT p.P568S PCDHA1_uc003lha.2_Intron|PCDHA1_uc003lgz.2_Missense_Mutation_p.P568S NM_018900 NP_061723 Q9Y5I3 PCDA1_HUMAN protocadherin alpha 1 isoform 1 precursor 568 Extracellular (Potential). homophilic cell adhesion|nervous system development extracellular region|integral to plasma membrane calcium ion binding|protein binding skin(1) 1 KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191) GCTGCTGGCGCCTCGAGTGGG 0.687 NaN 0 0 0 0.021553 0 6 107 PCDHGA7 56108 broad.mit.edu 37 5 140762743 140762743 + Missense_Mutation SNP G G A TCGA-FD-A3B8-01A-31D-A20D-08 TCGA-FD-A3B8-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7957bb77-8329-43a0-b1a8-140f2cb6b91b 83376d89-33f8-4ade-969d-d69391dd7cd8 g.chr5:140762743G>A uc003lka.1 + 1 277 c.277G>A c.(277-279)GAA>AAA p.E93K PCDHGA1_uc003lji.1_Intron|PCDHGA2_uc003ljk.1_Intron|PCDHGA3_uc003ljm.1_Intron|PCDHGA3_uc010jfx.1_Intron|PCDHGB1_uc003ljo.1_Intron|PCDHGA4_uc003ljq.1_Intron|PCDHGB2_uc003ljs.1_Intron|PCDHGA5_uc003lju.1_Intron|PCDHGB3_uc003ljw.1_Intron|PCDHGA6_uc003ljy.1_Intron|PCDHGA7_uc003ljz.1_Missense_Mutation_p.E93K NM_018920 NP_061743 Q9Y5G6 PCDG7_HUMAN protocadherin gamma subfamily A, 7 isoform 1 93 Cadherin 1.|Extracellular (Potential). homophilic cell adhesion integral to membrane|plasma membrane calcium ion binding 0 KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191) GATAGACCGGGAAGAGATCTG 0.527 NaN 0 0 0 0.009096 0 4 93 GNB2L1 10399 broad.mit.edu 37 5 180668594 180668594 + Silent SNP C C G TCGA-FD-A3B8-01A-31D-A20D-08 TCGA-FD-A3B8-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7957bb77-8329-43a0-b1a8-140f2cb6b91b 83376d89-33f8-4ade-969d-d69391dd7cd8 g.chr5:180668594C>G uc003mni.1 - 3 433 c.327G>C c.(325-327)CTG>CTC p.L109L GNB2L1_uc003mnh.1_Silent_p.L68L|GNB2L1_uc003mnk.1_Silent_p.L31L|GNB2L1_uc003mnj.1_Silent_p.L63L|GNB2L1_uc003mnl.1_5'UTR|GNB2L1_uc011dhk.1_Silent_p.L109L|GNB2L1_uc010jls.2_Silent_p.L68L|GNB2L1_uc011dhl.1_Silent_p.L109L NM_006098 NP_006089 P63244 GBLP_HUMAN guanine nucleotide binding protein (G protein), 109 WD 3. Missing (in Ref. 4; BAG53102). apoptosis|cell cycle|gastrulation|interspecies interaction between organisms|negative regulation of cell growth|negative regulation of phagocytosis|negative regulation of translation|negative regulation of Wnt receptor signaling pathway|positive regulation of apoptosis|positive regulation of cell migration|positive regulation of gastrulation|positive regulation of GTPase activity|positive regulation of proteasomal ubiquitin-dependent protein catabolic process|positive regulation of protein homooligomerization|positive regulation of protein phosphorylation|regulation of cell cycle|regulation of cell division|regulation of establishment of cell polarity|regulation of protein localization|rhythmic process cytoskeleton|dendrite|midbody|nucleus|perikaryon|perinuclear region of cytoplasm|phagocytic cup|small ribosomal subunit ion channel inhibitor activity|protein kinase C binding|protein phosphatase binding|protein tyrosine kinase inhibitor activity|receptor tyrosine kinase binding|SH2 domain binding 0 all_cancers(89;8.79e-06)|all_epithelial(37;1.13e-06)|Renal(175;0.000159)|Lung NSC(126;0.00354)|all_lung(126;0.00609)|Breast(19;0.0654) all_cancers(40;0.000209)|Medulloblastoma(196;0.0133)|all_neural(177;0.0199)|all_lung(500;0.0221)|all_hematologic(541;0.0433)|Lung NSC(249;0.132)|Ovarian(839;0.238) Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178) GBM - Glioblastoma multiforme(465;0.101)|all cancers(165;0.11) AGGCCACACTCAGCACATCCT 0.507 NaN 0 0 0 0.021553 0 5 98 TNXB 7148 broad.mit.edu 37 6 32015700 32015700 + Missense_Mutation SNP C C T TCGA-FD-A3B8-01A-31D-A20D-08 TCGA-FD-A3B8-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7957bb77-8329-43a0-b1a8-140f2cb6b91b 83376d89-33f8-4ade-969d-d69391dd7cd8 g.chr6:32015700C>T uc003nzl.2 - 30 10331 c.10129G>A c.(10129-10131)GAG>AAG p.E3377K TNXB_uc003nzg.1_5'Flank|TNXB_uc003nzh.1_5'Flank NM_019105 NP_061978 P22105 TENX_HUMAN tenascin XB isoform 1 precursor 3424 Fibronectin type-III 26. actin cytoskeleton organization|cell adhesion|collagen metabolic process|elastic fiber assembly|signal transduction extracellular space|intracellular|proteinaceous extracellular matrix heparin binding|integrin binding 0 AATTCGCCCTCAGGGACCGTC 0.637 NaN 0 0 0 0.009096 0 4 59 FANCE 2178 broad.mit.edu 37 6 35426085 35426085 + Silent SNP G G T TCGA-FD-A3B8-01A-31D-A20D-08 TCGA-FD-A3B8-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7957bb77-8329-43a0-b1a8-140f2cb6b91b 83376d89-33f8-4ade-969d-d69391dd7cd8 g.chr6:35426085G>T uc003oko.1 + 5 1166 c.981G>T c.(979-981)CTG>CTT p.L327L FANCE_uc010jvw.1_Intron NM_021922 NP_068741 Q9HB96 FANCE_HUMAN Fanconi anemia, complementation group E 327 Interaction with FANCC. DNA repair nucleoplasm protein binding ovary(1)|lung(1)|skin(1) 3 TGGACTTGCTGTGTGCCCAGC 0.602 NaN N|F|S AML|leukemia Involved_in_tolerance_or_repair_of_DNA_crosslinks Fanconi_Anemia 1 0 1.5842e-08 0.105934 1.84489e-08 13 186 DNAH8 1769 broad.mit.edu 37 6 38834595 38834595 + Missense_Mutation SNP C C G TCGA-FD-A3B8-01A-31D-A20D-08 TCGA-FD-A3B8-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7957bb77-8329-43a0-b1a8-140f2cb6b91b 83376d89-33f8-4ade-969d-d69391dd7cd8 g.chr6:38834595C>G uc003ooe.1 + 45 6585 c.5985C>G c.(5983-5985)ATC>ATG p.I1995M NM_001371 NP_001362 dynein, axonemal, heavy polypeptide 8 skin(8)|ovary(7)|lung(2)|large_intestine(1)|central_nervous_system(1)|kidney(1)|pancreas(1) 21 AAAATGTTATCTTGGCTCAAA 0.303 NaN 0 0 0 0.02938 0 5 47 PURB 5814 broad.mit.edu 37 7 44924329 44924329 + Missense_Mutation SNP C C T TCGA-FD-A3B8-01A-31D-A20D-08 TCGA-FD-A3B8-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7957bb77-8329-43a0-b1a8-140f2cb6b91b 83376d89-33f8-4ade-969d-d69391dd7cd8 g.chr7:44924329C>T uc003tme.2 - 1 632 c.619G>A c.(619-621)GGC>AGC p.G207S NM_033224 NP_150093 Q96QR8 PURB_HUMAN purine-rich element binding protein B 207 Gly-rich.|By similarity. regulation of myeloid cell differentiation DNA replication factor A complex mRNA binding|single-stranded DNA binding|transcription factor binding 0 cccccggcgccgcctcccggg 0.502 NaN 0 0 0 0.004672 0 3 38 FZD9 8326 broad.mit.edu 37 7 72849103 72849103 + Missense_Mutation SNP G G C TCGA-FD-A3B8-01A-31D-A20D-08 TCGA-FD-A3B8-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7957bb77-8329-43a0-b1a8-140f2cb6b91b 83376d89-33f8-4ade-969d-d69391dd7cd8 g.chr7:72849103G>C uc003tyb.2 + 1 995 c.766G>C c.(766-768)GAG>CAG p.E256Q NM_003508 NP_003499 O00144 FZD9_HUMAN frizzled 9 precursor 256 Cytoplasmic (Potential). B cell differentiation|brain development|canonical Wnt receptor signaling pathway|embryo development|gonad development|neuroblast proliferation|vasculature development cell surface|filopodium membrane|integral to membrane|perinuclear region of cytoplasm G-protein coupled receptor activity|PDZ domain binding|protein heterodimerization activity|protein homodimerization activity|Wnt receptor activity|Wnt-protein binding central_nervous_system(1) 1 Lung NSC(55;0.0659)|all_lung(88;0.152) CTTCTTGCTGGAGCCCCACCG 0.642 NaN 0 0 0 0.021553 0 5 188 CYP3A4 1576 broad.mit.edu 37 7 99366067 99366067 + Missense_Mutation SNP C C T TCGA-FD-A3B8-01A-31D-A20D-08 TCGA-FD-A3B8-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7957bb77-8329-43a0-b1a8-140f2cb6b91b 83376d89-33f8-4ade-969d-d69391dd7cd8 g.chr7:99366067C>T uc003urv.1 - 7 684 c.580G>A c.(580-582)GAC>AAC p.D194N CYP3A4_uc003urw.1_Missense_Mutation_p.D194N|CYP3A4_uc011kiz.1_Missense_Mutation_p.D153N|CYP3A4_uc011kja.1_Missense_Mutation_p.D145N|CYP3A4_uc011kjb.1_Missense_Mutation_p.D44N NM_017460 NP_059488 P08684 CP3A4_HUMAN cytochrome P450, family 3, subfamily A, 194 alkaloid catabolic process|androgen metabolic process|exogenous drug catabolic process|heterocycle metabolic process|monoterpenoid metabolic process|oxidative demethylation|steroid catabolic process|xenobiotic metabolic process cell surface|endoplasmic reticulum membrane|integral to membrane|microsome albendazole monooxygenase activity|caffeine oxidase activity|electron carrier activity|enzyme binding|heme binding|oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen, reduced flavin or flavoprotein as one donor, and incorporation of one atom of oxygen|oxygen binding|quinine 3-monooxygenase activity|steroid binding|taurochenodeoxycholate 6alpha-hydroxylase activity|testosterone 6-beta-hydroxylase activity|vitamin D 24-hydroxylase activity|vitamin D3 25-hydroxylase activity central_nervous_system(3)|ovary(1) 4 Lung NSC(181;0.0144)|Esophageal squamous(72;0.0166)|all_lung(186;0.0228) Albendazole(DB00518)|Alclometasone(DB00240)|Alfentanil(DB00802)|Alfuzosin(DB00346)|Aliskiren(DB01258)|Almotriptan(DB00918)|Alosetron(DB00969)|Alprazolam(DB00404)|Amlodipine(DB00381)|Amprenavir(DB00701)|Aprepitant(DB00673)|Aripiprazole(DB01238)|Astemizole(DB00637)|Atazanavir(DB01072)|Atorvastatin(DB01076)|Benazepril(DB00542)|Bepridil(DB01244)|Betamethasone(DB00443)|Bexarotene(DB00307)|Bortezomib(DB00188)|Bosentan(DB00559)|Bromocriptine(DB01200)|Budesonide(DB01222)|Bupivacaine(DB00297)|Buprenorphine(DB00921)|Buspirone(DB00490)|Busulfan(DB01008)|Carbamazepine(DB00564)|Cevimeline(DB00185)|Chlorpheniramine(DB01114)|Ciclesonide(DB01410)|Cilostazol(DB01166)|Cinacalcet(DB01012)|Cisapride(DB00604)|Clarithromycin(DB01211)|Clindamycin(DB01190)|Clofibrate(DB00636)|Clonazepam(DB01068)|Clopidogrel(DB00758)|Cocaine(DB00907)|Conivaptan(DB00872)|Conjugated Estrogens(DB00286)|Cyproterone(DB04839)|Darifenacin(DB00496)|Darunavir(DB01264)|Dasatinib(DB01254)|Delavirdine(DB00705)|Desogestrel(DB00304)|Dexamethasone(DB01234)|Diazepam(DB00829)|Dihydroergotamine(DB00320)|Diltiazem(DB00343)|Diphenhydramine(DB01075)|Disopyramide(DB00280)|Dofetilide(DB00204)|Dolasetron(DB00757)|Domperidone(DB01184)|Donepezil(DB00843)|Doxorubicin(DB00997)|Drospirenone(DB01395)|Dutasteride(DB01126)|Efavirenz(DB00625)|Eletriptan(DB00216)|Enalapril(DB00584)|Epirubicin(DB00445)|Eplerenone(DB00700)|Ergotamine(DB00696)|Erlotinib(DB00530)|Erythromycin(DB00199)|Escitalopram(DB01175)|Esomeprazole(DB00736)|Estazolam(DB01215)|Eszopiclone(DB00402)|Ethinyl Estradiol(DB00977)|Ethosuximide(DB00593)|Etonogestrel(DB00294)|Etoposide(DB00773)|Etoricoxib(DB01628)|Exemestane(DB00990)|Felodipine(DB01023)|Fentanyl(DB00813)|Fexofenadine(DB00950)|Finasteride(DB01216)|Fluconazole(DB00196)|Flumethasone Pivalate(DB00663)|Flunisolide(DB00180)|Fluocinolone Acetonide(DB00591)|Fluocinonide(DB01047)|Fluorometholone(DB00324)|Flurandrenolide(DB00846)|Fluticasone Propionate(DB00588)|Fosamprenavir(DB01319)|Fulvestrant(DB00947)|Galantamine(DB00674)|Gefitinib(DB00317)|Gemfibrozil(DB01241)|Granisetron(DB00889)|Grepafloxacin(DB00365)|Halofantrine(DB01218)|Hydrocodone(DB00956)|Hydrocortamate(DB00769)|Hydrocortisone(DB00741)|Hydromorphone(DB00327)|Imatinib(DB00619)|Indinavir(DB00224)|Ipratropium(DB00332)|Irinotecan(DB00762)|Isosorbide Dinitrate(DB00883)|Isosorbide Mononitrate(DB01020)|Isradipine(DB00270)|Itraconazole(DB01167)|Ketoconazole(DB01026)|Lapatinib(DB01259)|Lercanidipine(DB00528)|Letrozole(DB01006)|Levobupivacaine(DB01002)|Levomethadyl Acetate(DB01227)|Levothyroxine(DB00451)|Lomustine(DB01206)|Loperamide(DB00836)|Lopinavir(DB01601)|Loratadine(DB00455)|Losartan(DB00678)|Lovastatin(DB00227)|Maraviroc(DB04835)|Marinol(DB00470)|Mebendazole(DB00643)|Medroxyprogesterone(DB00603)|Methadone(DB00333)|Methylprednisolone(DB00959)|Metyrapone(DB01011)|Mibefradil(DB01388)|Midazolam(DB00683)|Mifepristone(DB00834)|Mirtazapine(DB00370)|Modafinil(DB00745)|Mometasone(DB00764)|Montelukast(DB00471)|Nateglinide(DB00731)|Nefazodone(DB01149)|Nelfinavir(DB00220)|Nevirapine(DB00238)|Nicardipine(DB00622)|Nifedipine(DB01115)|Nimodipine(DB00393)|Nisoldipine(DB00401)|Nitrendipine(DB01054)|Norethindrone(DB00717)|Norgestrel(DB00506)|Nystatin(DB00646)|Ondansetron(DB00904)|Oxybutynin(DB01062)|Paclitaxel(DB01229)|Paliperidone(DB01267)|Palonosetron(DB00377)|Pantoprazole(DB00213)|Paricalcitol(DB00910)|Phenmetrazine(DB00830)|Pimecrolimus(DB00337)|Pimozide(DB01100)|Pioglitazone(DB01132)|Posaconazole(DB01263)|Pranlukast(DB01411)|Prednisolone(DB00860)|Prednisone(DB00635)|Prochlorperazine(DB00433)|Quetiapine(DB01224)|Quinapril(DB00881)|Quinine(DB00468)|Rabeprazole(DB01129)|Ranolazine(DB00243)|Reboxetine(DB00234)|Retapamulin(DB01256)|Rifabutin(DB00615)|Rifampin(DB01045)|Rimonabant(DB06155)|Ritonavir(DB00503)|Rofecoxib(DB00533)|Roxithromycin(DB00778)|Salmeterol(DB00938)|Saquinavir(DB01232)|Sertindole(DB06144)|Sibutramine(DB01105)|Simvastatin(DB00641)|Sirolimus(DB00877)|Sitagliptin(DB01261)|Solifenacin(DB01591)|Sorafenib(DB00398)|Sunitinib(DB01268)|Tacrolimus(DB00864)|Tadalafil(DB00820)|Tamoxifen(DB00675)|Telithromycin(DB00976)|Terconazole(DB00251)|Terfenadine(DB00342)|Testosterone(DB00624)|Tiagabine(DB00906)|Ticlopidine(DB00208)|Tinidazole(DB00911)|Tiotropium(DB01409)|Tipranavir(DB00932)|Toremifene(DB00539)|Triazolam(DB00897)|Trimetrexate(DB01157)|Troglitazone(DB00197)|Valdecoxib(DB00580)|Vardenafil(DB00862)|Vinblastine(DB00570)|Vincristine(DB00541)|Vindesine(DB00309)|Vinorelbine(DB00361)|Voriconazole(DB00582)|Zaleplon(DB00962)|Zileuton(DB00744)|Ziprasidone(DB00246)|Zolpidem(DB00425)|Zonisamide(DB00909) TTGAGAGAGTCGATGTTCACT 0.403 NaN 0 0 0 0.014758 0 5 144 C7orf58 79974 broad.mit.edu 37 7 120740099 120740099 + Missense_Mutation SNP C C T TCGA-FD-A3B8-01A-31D-A20D-08 TCGA-FD-A3B8-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7957bb77-8329-43a0-b1a8-140f2cb6b91b 83376d89-33f8-4ade-969d-d69391dd7cd8 g.chr7:120740099C>T uc003vjq.3 + 7 1316 c.869C>T c.(868-870)TCG>TTG p.S290L C7orf58_uc003vjr.1_Missense_Mutation_p.S290L|C7orf58_uc003vjs.3_Missense_Mutation_p.S290L|C7orf58_uc003vjt.3_Missense_Mutation_p.S70L|C7orf58_uc010lkk.1_Missense_Mutation_p.S70L NM_024913 NP_079189 A4D0V7 CG058_HUMAN hypothetical protein LOC79974 isoform 1 290 endoplasmic reticulum ovary(4)|large_intestine(2)|skin(2)|pancreas(1) 9 all_neural(327;0.117) TTCATTCATTCGACGGGCACA 0.428 NaN 0 0 0 0.047766 0 7 64 CADPS2 93664 broad.mit.edu 37 7 122033257 122033257 + Missense_Mutation SNP C C G TCGA-FD-A3B8-01A-31D-A20D-08 TCGA-FD-A3B8-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7957bb77-8329-43a0-b1a8-140f2cb6b91b 83376d89-33f8-4ade-969d-d69391dd7cd8 g.chr7:122033257C>G uc010lkp.2 - 21 3164 c.3001G>C c.(3001-3003)GAG>CAG p.E1001Q CADPS2_uc011knx.1_Missense_Mutation_p.E376Q|CADPS2_uc003vkg.3_Intron|CADPS2_uc010lkq.2_Intron NM_017954 NP_060424 Q86UW7 CAPS2_HUMAN Ca2+-dependent activator protein for secretion 2 1001 Interaction with DRD2.|MHD1. exocytosis|protein transport cell junction|cytoplasmic vesicle membrane|synapse lipid binding|metal ion binding ovary(1)|central_nervous_system(1) 2 CACGTGGACTCATATAAAGAA 0.458 NaN 0 0 0 0.004672 0 3 36 CPA4 51200 broad.mit.edu 37 7 129945685 129945685 + Silent SNP G G A TCGA-FD-A3B8-01A-31D-A20D-08 TCGA-FD-A3B8-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7957bb77-8329-43a0-b1a8-140f2cb6b91b 83376d89-33f8-4ade-969d-d69391dd7cd8 g.chr7:129945685G>A uc003vpr.2 + 6 563 c.516G>A c.(514-516)CCG>CCA p.P172P CPA4_uc011kpd.1_Silent_p.P139P|CPA4_uc011kpe.1_Silent_p.P68P NM_016352 NP_057436 Q9UI42 CBPA4_HUMAN carboxypeptidase A4 preproprotein 172 histone acetylation|proteolysis extracellular region metallocarboxypeptidase activity|zinc ion binding ovary(1) 1 Melanoma(18;0.0435) TGAGGCGGCCGGCCGTTTGGC 0.587 NaN 0 0 0 0.038147 0 6 140 KRBA1 84626 broad.mit.edu 37 7 149425660 149425660 + Silent SNP C C G TCGA-FD-A3B8-01A-31D-A20D-08 TCGA-FD-A3B8-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7957bb77-8329-43a0-b1a8-140f2cb6b91b 83376d89-33f8-4ade-969d-d69391dd7cd8 g.chr7:149425660C>G uc003wfz.2 + 12 1920 c.1521C>G c.(1519-1521)CTC>CTG p.L507L KRBA1_uc010lpj.2_RNA|KRBA1_uc003wga.2_RNA|KRBA1_uc003wgb.2_Silent_p.L175L NM_032534 NP_115923 A5PL33 KRBA1_HUMAN KRAB A domain containing 1 507 ovary(1)|central_nervous_system(1) 2 Melanoma(164;0.165)|Ovarian(565;0.177) OV - Ovarian serous cystadenocarcinoma(82;0.00625) AGAATTGTCTCAAGGAGATAC 0.577 NaN 0 0 0 0.047766 0 7 221 ASAH1 427 broad.mit.edu 37 8 17918895 17918895 + Missense_Mutation SNP T T C TCGA-FD-A3B8-01A-31D-A20D-08 TCGA-FD-A3B8-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7957bb77-8329-43a0-b1a8-140f2cb6b91b 83376d89-33f8-4ade-969d-d69391dd7cd8 g.chr8:17918895T>C uc003wyl.2 - 10 1088 c.776A>G c.(775-777)AAT>AGT p.N259S ASAH1_uc010ltb.1_RNA|ASAH1_uc003wym.2_Missense_Mutation_p.N234S|ASAH1_uc003wyn.2_Missense_Mutation_p.N275S|ASAH1_uc003wyo.2_Missense_Mutation_p.N253S NM_177924 NP_808592 Q13510 ASAH1_HUMAN N-acylsphingosine amidohydrolase 1 isoform a 259 ceramide metabolic process lysosome ceramidase activity 0 Colorectal(111;0.0646)|COAD - Colon adenocarcinoma(73;0.228) CCTTGTGCTATTTTCCAGAAC 0.313 NaN 0 0 0 0.014758 0 4 133 ANK1 286 broad.mit.edu 37 8 41573364 41573364 + Missense_Mutation SNP C C T TCGA-FD-A3B8-01A-31D-A20D-08 TCGA-FD-A3B8-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7957bb77-8329-43a0-b1a8-140f2cb6b91b 83376d89-33f8-4ade-969d-d69391dd7cd8 g.chr8:41573364C>T uc003xok.2 - 14 1492 c.1408G>A c.(1408-1410)GAC>AAC p.D470N NKX6-3_uc010lxa.1_Intron|ANK1_uc003xoi.2_Missense_Mutation_p.D470N|ANK1_uc003xoj.2_Missense_Mutation_p.D470N|ANK1_uc003xol.2_Missense_Mutation_p.D470N|ANK1_uc003xom.2_Missense_Mutation_p.D503N NM_020476 NP_065209 P16157 ANK1_HUMAN ankyrin 1 isoform 1 470 ANK 14.|89 kDa domain. axon guidance|cytoskeleton organization|exocytosis|maintenance of epithelial cell apical/basal polarity|signal transduction basolateral plasma membrane|cytosol|sarcomere|sarcoplasmic reticulum|spectrin-associated cytoskeleton cytoskeletal adaptor activity|enzyme binding|protein binding|spectrin binding|structural constituent of cytoskeleton ovary(3)|central_nervous_system(3)|lung(2)|breast(1) 9 Ovarian(28;0.00541)|Colorectal(14;0.0398)|Lung SC(25;0.211) all_lung(54;0.000626)|Lung NSC(58;0.00245)|Esophageal squamous(32;0.0559)|Hepatocellular(245;0.0663)|Renal(179;0.188) OV - Ovarian serous cystadenocarcinoma(14;0.000984)|Lung(22;0.00108)|Colorectal(10;0.00245)|LUSC - Lung squamous cell carcinoma(45;0.00392)|COAD - Colon adenocarcinoma(11;0.0264) GGGGTCTGGTCATCCTGGACC 0.373 NaN 0 0 0 0.021553 0 4 50 KCNB2 9312 broad.mit.edu 37 8 73849986 73849986 + Missense_Mutation SNP G G C TCGA-FD-A3B8-01A-31D-A20D-08 TCGA-FD-A3B8-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7957bb77-8329-43a0-b1a8-140f2cb6b91b 83376d89-33f8-4ade-969d-d69391dd7cd8 g.chr8:73849986G>C uc003xzb.2 + 3 2984 c.2396G>C c.(2395-2397)AGA>ACA p.R799T NM_004770 NP_004761 Q92953 KCNB2_HUMAN potassium voltage-gated channel, Shab-related 799 Cytoplasmic (Potential). regulation of smooth muscle contraction voltage-gated potassium channel complex delayed rectifier potassium channel activity|protein binding skin(3)|large_intestine(1)|pancreas(1)|ovary(1)|central_nervous_system(1) 7 Breast(64;0.137) Epithelial(68;0.105) TTCTCTTCAAGAGAGAGGAGG 0.542 NaN 0 0 0 0.014758 0 3 37 NAA35 60560 broad.mit.edu 37 9 88557196 88557196 + Missense_Mutation SNP G G A TCGA-FD-A3B8-01A-31D-A20D-08 TCGA-FD-A3B8-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7957bb77-8329-43a0-b1a8-140f2cb6b91b 83376d89-33f8-4ade-969d-d69391dd7cd8 g.chr9:88557196G>A uc004aoi.3 + 2 259 c.122G>A c.(121-123)CGA>CAA p.R41Q NAA35_uc004aoj.3_Missense_Mutation_p.R41Q|NAA35_uc004aok.1_Missense_Mutation_p.R41Q NM_024635 NP_078911 Q5VZE5 NAA35_HUMAN corneal wound healing-related protein 41 smooth muscle cell proliferation cytoplasm|nucleus|plasma membrane skin(2)|central_nervous_system(1) 3 GAAGCTTGTCGAGGTGAGTCT 0.403 NaN 0 0 0 0.069234 0 7 176 OR13F1 138805 broad.mit.edu 37 9 107267011 107267011 + Silent SNP C C G TCGA-FD-A3B8-01A-31D-A20D-08 TCGA-FD-A3B8-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7957bb77-8329-43a0-b1a8-140f2cb6b91b 83376d89-33f8-4ade-969d-d69391dd7cd8 g.chr9:107267011C>G uc011lvm.1 + 1 468 c.468C>G c.(466-468)GCC>GCG p.A156A NM_001004485 NP_001004485 Q8NGS4 O13F1_HUMAN olfactory receptor, family 13, subfamily F, 156 Helical; Name=4; (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity large_intestine(1)|ovary(1)|skin(1) 3 GTCTCACTGCCATGGTGGAAA 0.478 NaN 0 0 0 0.038147 0 5 129 CERCAM 51148 broad.mit.edu 37 9 131186476 131186476 + Missense_Mutation SNP G G C TCGA-FD-A3B8-01A-31D-A20D-08 TCGA-FD-A3B8-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7957bb77-8329-43a0-b1a8-140f2cb6b91b 83376d89-33f8-4ade-969d-d69391dd7cd8 g.chr9:131186476G>C uc004buz.3 + 4 884 c.486G>C c.(484-486)CAG>CAC p.Q162H CERCAM_uc004buy.1_Missense_Mutation_p.Q84H|CERCAM_uc010mxz.2_Missense_Mutation_p.Q84H|CERCAM_uc010mya.1_Missense_Mutation_p.Q3H NM_016174 NP_057258 Q5T4B2 GT253_HUMAN cerebral endothelial cell adhesion molecule 1 162 cellular component movement|leukocyte cell-cell adhesion|lipopolysaccharide biosynthetic process endoplasmic reticulum lumen|plasma membrane pancreas(1) 1 TCATGGGGCAGGGGCTTCCAG 0.612 NaN 0 0 0 0.02938 0 6 146 SEC16A 9919 broad.mit.edu 37 9 139369336 139369336 + Missense_Mutation SNP G G T TCGA-FD-A3B8-01A-31D-A20D-08 TCGA-FD-A3B8-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7957bb77-8329-43a0-b1a8-140f2cb6b91b 83376d89-33f8-4ade-969d-d69391dd7cd8 g.chr9:139369336G>T uc004chx.2 - 3 3041 c.2732C>A c.(2731-2733)TCT>TAT p.S911Y SEC16A_uc004chv.3_Intron|SEC16A_uc004chw.2_Missense_Mutation_p.S911Y|SEC16A_uc010nbn.2_Missense_Mutation_p.S911Y|SEC16A_uc010nbo.1_Missense_Mutation_p.S911Y NM_014866 NP_055681 O15027 SC16A_HUMAN SEC16 homolog A 733 protein transport|vesicle-mediated transport endoplasmic reticulum membrane|Golgi membrane 0 Myeloproliferative disorder(178;0.0511) Epithelial(140;2.9e-06)|OV - Ovarian serous cystadenocarcinoma(145;5.88e-06) GGAAGCACCAGAACCTTGTGG 0.468 NaN 1 0 5.9392e-07 0.021553 6.74576e-07 5 93 BMX 660 broad.mit.edu 37 X 15540611 15540611 + Missense_Mutation SNP G G A TCGA-FD-A3B8-01A-31D-A20D-08 TCGA-FD-A3B8-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7957bb77-8329-43a0-b1a8-140f2cb6b91b 83376d89-33f8-4ade-969d-d69391dd7cd8 g.chrX:15540611G>A uc004cww.2 + 7 841 c.653G>A c.(652-654)AGC>AAC p.S218N BMX_uc004cwx.3_Missense_Mutation_p.S218N|BMX_uc004cwy.3_Missense_Mutation_p.S218N NM_203281 NP_975010 P51813 BMX_HUMAN BMX non-receptor tyrosine kinase 218 cellular component disassembly involved in apoptosis|intracellular signal transduction|mesoderm development cytosol ATP binding|metal ion binding|non-membrane spanning protein tyrosine kinase activity|protein binding|signal transducer activity lung(3)|ovary(2) 5 Hepatocellular(33;0.183) CAATATGACAGCAACTCAAAG 0.438 NaN 0 0 0 0.004672 0 3 67 TAB3 257397 broad.mit.edu 37 X 30872793 30872793 + Missense_Mutation SNP G G C TCGA-FD-A3B8-01A-31D-A20D-08 TCGA-FD-A3B8-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7957bb77-8329-43a0-b1a8-140f2cb6b91b 83376d89-33f8-4ade-969d-d69391dd7cd8 g.chrX:30872793G>C uc004dcj.2 - 6 1652 c.989C>G c.(988-990)CCC>CGC p.P330R TAB3_uc004dck.2_Missense_Mutation_p.P330R|TAB3_uc010ngl.2_Missense_Mutation_p.P330R NM_152787 NP_690000 Q8N5C8 TAB3_HUMAN mitogen-activated protein kinase kinase kinase 7 330 Pro-rich. activation of MAPK activity|I-kappaB kinase/NF-kappaB cascade|innate immune response|JNK cascade|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|positive regulation of NF-kappaB transcription factor activity|stress-activated MAPK cascade|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway cytosol|endosome membrane|plasma membrane protein binding|zinc ion binding ovary(1) 1 ATATGGATGGGGTGGAGTAGT 0.478 NaN 0 0 0 0.014758 0 5 40 ZXDB 158586 broad.mit.edu 37 X 57619475 57619475 + Missense_Mutation SNP C C T TCGA-FD-A3B8-01A-31D-A20D-08 TCGA-FD-A3B8-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7957bb77-8329-43a0-b1a8-140f2cb6b91b 83376d89-33f8-4ade-969d-d69391dd7cd8 g.chrX:57619475C>T uc004dvd.2 + 1 1207 c.994C>T c.(994-996)CGG>TGG p.R332W NM_007157 NP_009088 P98169 ZXDB_HUMAN zinc finger, X-linked, duplicated B 332 Required for interaction with ZXDC (By similarity). regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus nucleic acid binding|zinc ion binding 0 CGACAAACTGCGGCCCTTTGG 0.602 NaN 0 0 0 0.004672 0 3 13 PGK1 5230 broad.mit.edu 37 X 77372877 77372877 + Silent SNP C C T TCGA-FD-A3B8-01A-31D-A20D-08 TCGA-FD-A3B8-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7957bb77-8329-43a0-b1a8-140f2cb6b91b 83376d89-33f8-4ade-969d-d69391dd7cd8 g.chrX:77372877C>T uc004ecz.3 + 5 658 c.486C>T c.(484-486)GTC>GTT p.V162V PGK1_uc010nlz.2_RNA|PGK1_uc011mqq.1_Silent_p.V134V NM_000291 NP_000282 P00558 PGK1_HUMAN phosphoglycerate kinase 1 162 gluconeogenesis|glycolysis cytosol ATP binding|phosphoglycerate kinase activity upper_aerodigestive_tract(1)|ovary(1) 2 ATGTCTATGTCAATGATGCTT 0.433 NaN 0 0 0 0.021553 0 4 45 PANX2 56666 broad.mit.edu 37 22 50616632 50616633 + Frame_Shift_Del DEL TG TG - TCGA-FD-A3B8-01A-31D-A20D-08 TCGA-FD-A3B8-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7957bb77-8329-43a0-b1a8-140f2cb6b91b 83376d89-33f8-4ade-969d-d69391dd7cd8 g.chr22:50616632_50616633delTG uc003bjn.3 + 2 1491_1492 c.1491_1492delTG c.(1489-1494)CCTGCCfs p.P497fs PANX2_uc003bjp.3_Frame_Shift_Del_p.P363fs|PANX2_uc003bjo.3_Frame_Shift_Del_p.P497fs NM_052839 NP_443071 Q96RD6 PANX2_HUMAN pannexin 2 isoform 1 497_498 Cytoplasmic (Potential). protein hexamerization|synaptic transmission gap junction|integral to membrane gap junction hemi-channel activity|ion channel activity breast(1) 1 all_cancers(38;1.14e-10)|all_epithelial(38;2.12e-09)|all_lung(38;7.01e-05)|Breast(42;0.000523)|Lung NSC(38;0.0018)|Ovarian(80;0.0365)|Lung SC(80;0.113) LUAD - Lung adenocarcinoma(64;0.105) gccccgcccctgcccccgcccc 0.554 NaN NaN NaN NaN NaN NaN 3 5 --- ---