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 NOC2L 26155 broad.mit.edu 37 1 889226 889226 + Missense_Mutation SNP C C T TCGA-BR-8286-01A-12D-2340-08 TCGA-BR-8286-10A-01D-2340-08 Untested Somatic Phase_I WXS none Illumina GAIIx e0d70de9-86fb-406d-8959-9089f3a44127 8fb6969d-2604-44c5-88ff-6fdd69c9a472 g.chr1:889226C>T uc001abz.3 - 8 883 c.824G>A c.(823-825)CGG>CAG p.R275Q NOC2L_uc001aby.3_Missense_Mutation_p.R72Q|NOC2L_uc009vjq.2_Missense_Mutation_p.R275Q NM_015658 NP_056473 Q9Y3T9 NOC2L_HUMAN nucleolar complex associated 2 homolog 275 nucleolus protein binding ovary(1)|skin(1) 2 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;8.75e-19)|all_lung(118;2.3e-08)|Lung NSC(185;2.38e-06)|Renal(390;0.00183)|Breast(487;0.00354)|Hepatocellular(190;0.00826)|Myeloproliferative disorder(586;0.0122)|Ovarian(437;0.0308)|Lung SC(97;0.128) UCEC - Uterine corpus endometrioid carcinoma (11;0.00459)|Epithelial(90;1.86e-38)|OV - Ovarian serous cystadenocarcinoma(86;6.08e-23)|Colorectal(212;0.000161)|COAD - Colon adenocarcinoma(227;0.000194)|BRCA - Breast invasive adenocarcinoma(365;0.000475)|Kidney(185;0.00231)|STAD - Stomach adenocarcinoma(132;0.00644)|KIRC - Kidney renal clear cell carcinoma(229;0.0344)|Lung(427;0.2) GCTGATGTGCCGCAGCACGGC 0.622000 KIF1B 23095 broad.mit.edu 37 1 10336421 10336421 + Missense_Mutation SNP C C T TCGA-BR-8286-01A-12D-2340-08 TCGA-BR-8286-10A-01D-2340-08 Untested Somatic Phase_I WXS none Illumina GAIIx e0d70de9-86fb-406d-8959-9089f3a44127 8fb6969d-2604-44c5-88ff-6fdd69c9a472 g.chr1:10336421C>T uc001aqx.3 + 12 1203 c.1001C>T c.(1000-1002)GCG>GTG p.A334V KIF1B_uc001aqv.3_Missense_Mutation_p.A328V|KIF1B_uc001aqw.3_Missense_Mutation_p.A328V|KIF1B_uc001aqy.2_Missense_Mutation_p.A334V|KIF1B_uc001aqz.2_Missense_Mutation_p.A334V|KIF1B_uc001ara.2_Missense_Mutation_p.A334V|KIF1B_uc001arb.2_Missense_Mutation_p.A334V NM_015074 NP_055889 O60333 KIF1B_HUMAN kinesin family member 1B isoform b 334 Kinesin-motor.|Interaction with KBP. anterograde axon cargo transport|apoptosis|neuromuscular synaptic transmission|neuron-neuron synaptic transmission cytoplasmic vesicle membrane|microtubule|microtubule associated complex|mitochondrion ATP binding|ATPase activity|kinesin binding|microtubule motor activity|protein binding ovary(2)|upper_aerodigestive_tract(1) 3 Ovarian(185;0.203) all_lung(284;1.31e-05)|Lung NSC(185;2.2e-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;0.0259)|Colorectal(212;9.79e-07)|COAD - Colon adenocarcinoma(227;0.000143)|BRCA - Breast invasive adenocarcinoma(304;0.000413)|Kidney(185;0.00134)|KIRC - Kidney renal clear cell carcinoma(229;0.0037)|STAD - Stomach adenocarcinoma(132;0.0113)|READ - Rectum adenocarcinoma(331;0.0642) CTGAGCCCCGCGGATATCAAC 0.398000 MCOLN2 255231 broad.mit.edu 37 1 85431387 85431387 + Missense_Mutation SNP C C A TCGA-BR-8286-01A-12D-2340-08 TCGA-BR-8286-10A-01D-2340-08 Untested Somatic Phase_I WXS none Illumina GAIIx e0d70de9-86fb-406d-8959-9089f3a44127 8fb6969d-2604-44c5-88ff-6fdd69c9a472 g.chr1:85431387C>A uc001dkm.2 - 2 323 c.82G>T c.(82-84)GCA>TCA p.A28S MCOLN2_uc001dkn.2_RNA NM_153259 NP_694991 Q8IZK6 MCLN2_HUMAN mucolipin 2 28 integral to membrane ion channel activity ovary(3)|upper_aerodigestive_tract(1) 4 all cancers(265;0.0111)|Epithelial(280;0.0263)|OV - Ovarian serous cystadenocarcinoma(397;0.217) TGTGCCATTGCATTTCTGCCA 0.408000 CGN 57530 broad.mit.edu 37 1 151497219 151497219 + Missense_Mutation SNP A A G TCGA-BR-8286-01A-12D-2340-08 TCGA-BR-8286-10A-01D-2340-08 Untested Somatic Phase_I WXS none Illumina GAIIx e0d70de9-86fb-406d-8959-9089f3a44127 8fb6969d-2604-44c5-88ff-6fdd69c9a472 g.chr1:151497219A>G uc009wmw.2 + 8 1615 c.1471A>G c.(1471-1473)AGG>GGG p.R491G NM_020770 NP_065821 Q9P2M7 CING_HUMAN cingulin 485 Glu-rich.|Potential. myosin complex|tight junction actin binding|motor activity ovary(2)|pancreas(1) 3 Ovarian(49;0.0273)|Hepatocellular(266;0.0997)|all_hematologic(923;0.127)|Melanoma(130;0.185) LUSC - Lung squamous cell carcinoma(543;0.181) GGAGCAGCTGAGGCTGCGGGA 0.587000 LCE1C 353133 broad.mit.edu 37 1 152777707 152777707 + Missense_Mutation SNP C C T TCGA-BR-8286-01A-12D-2340-08 TCGA-BR-8286-10A-01D-2340-08 Untested Somatic Phase_I WXS none Illumina GAIIx e0d70de9-86fb-406d-8959-9089f3a44127 8fb6969d-2604-44c5-88ff-6fdd69c9a472 g.chr1:152777707C>T uc001fap.1 - 2 299 c.248G>A c.(247-249)CGT>CAT p.R83H NM_178351 NP_848128 Q5T751 LCE1C_HUMAN late cornified envelope 1C 83 Gly-rich. keratinization 0 Lung NSC(65;9.06e-30)|Hepatocellular(266;0.0877)|all_hematologic(923;0.127)|Melanoma(130;0.242) LUSC - Lung squamous cell carcinoma(543;0.171) GTGGGACCTACGGCGCCTGTG 0.706000 NES 10763 broad.mit.edu 37 1 156645073 156645073 + Silent SNP G G A TCGA-BR-8286-01A-12D-2340-08 TCGA-BR-8286-10A-01D-2340-08 Untested Somatic Phase_I WXS none Illumina GAIIx e0d70de9-86fb-406d-8959-9089f3a44127 8fb6969d-2604-44c5-88ff-6fdd69c9a472 g.chr1:156645073G>A uc001fpq.2 - 2 976 c.843C>T c.(841-843)GTC>GTT p.V281V NM_006617 NP_006608 P48681 NEST_HUMAN nestin 281 Coil 2B.|Rod. brain development|embryonic camera-type eye development|G2/M transition of mitotic cell cycle|negative regulation of apoptosis|positive regulation of intermediate filament depolymerization|positive regulation of neural precursor cell proliferation|stem cell proliferation cytoplasm|intermediate filament intermediate filament binding|structural molecule activity ovary(6) 6 all_hematologic(923;0.088)|Hepatocellular(266;0.158) GACCTTCCAGGACCTGAGCGA 0.652000 CD5L 922 broad.mit.edu 37 1 157804319 157804319 + Missense_Mutation SNP T T C TCGA-BR-8286-01A-12D-2340-08 TCGA-BR-8286-10A-01D-2340-08 Untested Somatic Phase_I WXS none Illumina GAIIx e0d70de9-86fb-406d-8959-9089f3a44127 8fb6969d-2604-44c5-88ff-6fdd69c9a472 g.chr1:157804319T>C uc001frk.3 - 4 739 c.596A>G c.(595-597)AAA>AGA p.K199R NM_005894 NP_005885 O43866 CD5L_HUMAN CD5 molecule-like precursor 199 SRCR 2. apoptosis|cellular defense response extracellular space|membrane scavenger receptor activity ovary(1) 1 all_hematologic(112;0.0378) LUSC - Lung squamous cell carcinoma(543;0.24) CCAGATGGGTTTTCGGCCATA 0.582000 CD5L 922 broad.mit.edu 37 1 157804432 157804432 + Silent SNP G G A TCGA-BR-8286-01A-12D-2340-08 TCGA-BR-8286-10A-01D-2340-08 Untested Somatic Phase_I WXS none Illumina GAIIx e0d70de9-86fb-406d-8959-9089f3a44127 8fb6969d-2604-44c5-88ff-6fdd69c9a472 g.chr1:157804432G>A uc001frk.3 - 4 626 c.483C>T c.(481-483)ACC>ACT p.T161T NM_005894 NP_005885 O43866 CD5L_HUMAN CD5 molecule-like precursor 161 SRCR 2. apoptosis|cellular defense response extracellular space|membrane scavenger receptor activity ovary(1) 1 all_hematologic(112;0.0378) LUSC - Lung squamous cell carcinoma(543;0.24) TCTGGCACACGGTATACCACT 0.612000 TNR 7143 broad.mit.edu 37 1 175324675 175324675 + Silent SNP A A G TCGA-BR-8286-01A-12D-2340-08 TCGA-BR-8286-10A-01D-2340-08 Untested Somatic Phase_I WXS none Illumina GAIIx e0d70de9-86fb-406d-8959-9089f3a44127 8fb6969d-2604-44c5-88ff-6fdd69c9a472 g.chr1:175324675A>G uc001gkp.1 - 15 3294 c.3213T>C c.(3211-3213)TAT>TAC p.Y1071Y TNR_uc009wwu.1_Silent_p.Y1071Y NM_003285 NP_003276 Q92752 TENR_HUMAN tenascin R precursor 1071 Fibronectin type-III 9. axon guidance|cell adhesion|signal transduction proteinaceous extracellular matrix pancreas(5)|ovary(4)|central_nervous_system(1)|skin(1) 11 Renal(580;0.146) AGGTCAAGACATAATTTTCAA 0.507000 ASTN1 460 broad.mit.edu 37 1 176903398 176903398 + Missense_Mutation SNP T T C TCGA-BR-8286-01A-12D-2340-08 TCGA-BR-8286-10A-01D-2340-08 Untested Somatic Phase_I WXS none Illumina GAIIx e0d70de9-86fb-406d-8959-9089f3a44127 8fb6969d-2604-44c5-88ff-6fdd69c9a472 g.chr1:176903398T>C uc001glc.2 - 16 2773 c.2561A>G c.(2560-2562)AAC>AGC p.N854S ASTN1_uc001glb.1_Missense_Mutation_p.N854S|ASTN1_uc001gld.1_Missense_Mutation_p.N854S NM_004319 NP_004310 O14525 ASTN1_HUMAN astrotactin isoform 1 862 cell migration|neuron cell-cell adhesion integral to membrane ovary(6)|skin(5)|central_nervous_system(2)|large_intestine(1)|lung(1) 15 GATGTAATGGTTGCCGAACTG 0.542000 CFH 3075 broad.mit.edu 37 1 196694307 196694307 + Missense_Mutation SNP G G A TCGA-BR-8286-01A-12D-2340-08 TCGA-BR-8286-10A-01D-2340-08 Untested Somatic Phase_I WXS none Illumina GAIIx e0d70de9-86fb-406d-8959-9089f3a44127 8fb6969d-2604-44c5-88ff-6fdd69c9a472 g.chr1:196694307G>A uc001gtj.3 + 12 1993 c.1753G>A c.(1753-1755)GAC>AAC p.D585N NM_000186 NP_000177 P08603 CFAH_HUMAN complement factor H isoform a precursor 585 Sushi 10. complement activation, alternative pathway extracellular space skin(4)|ovary(1)|breast(1) 6 TCGCAAGAAAGACCAGTATAA 0.353000 SUSD4 55061 broad.mit.edu 37 1 223465898 223465898 + Nonsense_Mutation SNP G G A TCGA-BR-8286-01A-12D-2340-08 TCGA-BR-8286-10A-01D-2340-08 Untested Somatic Phase_I WXS none Illumina GAIIx e0d70de9-86fb-406d-8959-9089f3a44127 8fb6969d-2604-44c5-88ff-6fdd69c9a472 g.chr1:223465898G>A uc001hnx.2 - 2 878 c.244C>T c.(244-246)CGA>TGA p.R82* SUSD4_uc001hny.3_Nonsense_Mutation_p.R82*|SUSD4_uc010puw.1_5'UTR|SUSD4_uc001hnz.2_Nonsense_Mutation_p.R82*|SUSD4_uc010pux.1_Intron NM_017982 NP_060452 Q5VX71 SUSD4_HUMAN sushi domain containing 4 isoform a 82 Sushi 1.|Extracellular (Potential). integral to membrane 0 GBM - Glioblastoma multiforme(131;0.0611) CAGTGAAATCGGGCTACAGAG 0.512000 OBSCN 84033 broad.mit.edu 37 1 228475397 228475397 + Missense_Mutation SNP C C T TCGA-BR-8286-01A-12D-2340-08 TCGA-BR-8286-10A-01D-2340-08 Untested Somatic Phase_I WXS none Illumina GAIIx e0d70de9-86fb-406d-8959-9089f3a44127 8fb6969d-2604-44c5-88ff-6fdd69c9a472 g.chr1:228475397C>T uc009xez.1 + 36 9591 c.9547C>T c.(9547-9549)CGG>TGG p.R3183W OBSCN_uc001hsn.2_Missense_Mutation_p.R3183W|OBSCN_uc001hsq.1_Missense_Mutation_p.R439W NM_001098623 NP_001092093 Q5VST9 OBSCN_HUMAN obscurin, cytoskeletal calmodulin and 3183 Ig-like 31. 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) GTCTGCAGCGCGGCCAGTGCG 0.657000 PCNXL2 80003 broad.mit.edu 37 1 233393811 233393811 + Silent SNP G G C TCGA-BR-8286-01A-12D-2340-08 TCGA-BR-8286-10A-01D-2340-08 Untested Somatic Phase_I WXS none Illumina GAIIx e0d70de9-86fb-406d-8959-9089f3a44127 8fb6969d-2604-44c5-88ff-6fdd69c9a472 g.chr1:233393811G>C uc001hvl.2 - 5 2032 c.1797C>G c.(1795-1797)GGC>GGG p.G599G PCNXL2_uc009xfu.2_RNA|PCNXL2_uc009xfv.1_RNA NM_014801 NP_055616 A6NKB5 PCX2_HUMAN pecanex-like 2 599 integral to membrane central_nervous_system(1)|pancreas(1) 2 all_cancers(173;0.0347)|Prostate(94;0.137) GCTCAGCTGAGCCATTCAGTT 0.443000 OR14C36 127066 broad.mit.edu 37 1 248512867 248512867 + Missense_Mutation SNP C C T TCGA-BR-8286-01A-12D-2340-08 TCGA-BR-8286-10A-01D-2340-08 Untested Somatic Phase_I WXS none Illumina GAIIx e0d70de9-86fb-406d-8959-9089f3a44127 8fb6969d-2604-44c5-88ff-6fdd69c9a472 g.chr1:248512867C>T uc010pzl.1 + 1 791 c.791C>T c.(790-792)CCT>CTT p.P264L NM_001001918 NP_001001918 Q8NHC7 O14CZ_HUMAN olfactory receptor, family 14, subfamily C, 264 Extracellular (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity ovary(1)|central_nervous_system(1)|skin(1) 3 CCTGCGATACCTGCAGCCACC 0.463000 MEIG1 644890 broad.mit.edu 37 10 15014613 15014613 + Silent SNP C C T TCGA-BR-8286-01A-12D-2340-08 TCGA-BR-8286-10A-01D-2340-08 Untested Somatic Phase_I WXS none Illumina GAIIx e0d70de9-86fb-406d-8959-9089f3a44127 8fb6969d-2604-44c5-88ff-6fdd69c9a472 g.chr10:15014613C>T uc009xjk.1 + 3 388 c.240C>T c.(238-240)GTC>GTT p.V80V NM_001080836 NP_001074305 Q5JSS6 MEIG1_HUMAN meiosis expressed gene 1 homolog 80 0 ACAAAGAAGTCCACAAAGTGA 0.353000 PLXDC2 84898 broad.mit.edu 37 10 20500613 20500613 + Silent SNP T T C TCGA-BR-8286-01A-12D-2340-08 TCGA-BR-8286-10A-01D-2340-08 Untested Somatic Phase_I WXS none Illumina GAIIx e0d70de9-86fb-406d-8959-9089f3a44127 8fb6969d-2604-44c5-88ff-6fdd69c9a472 g.chr10:20500613T>C uc001iqg.1 + 10 1714 c.1077T>C c.(1075-1077)TTT>TTC p.F359F PLXDC2_uc001iqh.1_Silent_p.F310F|PLXDC2_uc009xkc.1_Intron NM_032812 NP_116201 Q6UX71 PXDC2_HUMAN plexin domain containing 2 precursor 359 Extracellular (Potential).|PSI. integral to membrane ovary(2)|central_nervous_system(1)|skin(1) 4 CCAGTGGATTTGATCGTCATC 0.448000 ZEB1 6935 broad.mit.edu 37 10 31816022 31816022 + Missense_Mutation SNP G G A TCGA-BR-8286-01A-12D-2340-08 TCGA-BR-8286-10A-01D-2340-08 Untested Somatic Phase_I WXS none Illumina GAIIx e0d70de9-86fb-406d-8959-9089f3a44127 8fb6969d-2604-44c5-88ff-6fdd69c9a472 g.chr10:31816022G>A uc001ivs.3 + 9 3268 c.3205G>A c.(3205-3207)GAG>AAG p.E1069K ZEB1_uc001ivr.3_Missense_Mutation_p.E851K|ZEB1_uc010qee.1_Missense_Mutation_p.E851K|ZEB1_uc010qef.1_Missense_Mutation_p.E851K|ZEB1_uc001ivt.3_Missense_Mutation_p.E851K|ZEB1_uc001ivu.3_Missense_Mutation_p.E1070K|ZEB1_uc001ivv.3_Missense_Mutation_p.E1049K|ZEB1_uc010qeh.1_Missense_Mutation_p.E1002K|ZEB1_uc009xlp.2_Missense_Mutation_p.E1053K NM_030751 NP_110378 P37275 ZEB1_HUMAN zinc finger E-box binding homeobox 1 isoform b 1069 Glu-rich (acidic). cell proliferation|immune response|negative regulation of transcription from RNA polymerase II promoter|positive regulation of neuron differentiation cytoplasm E-box binding|sequence-specific DNA binding transcription factor activity|transcription coactivator activity|transcription corepressor activity|zinc ion binding ovary(3)|central_nervous_system(2) 5 Prostate(175;0.0156) ggaggaggaggaggaagaagt 0.114000 TMEM72 643236 broad.mit.edu 37 10 45430170 45430170 + Missense_Mutation SNP C C A TCGA-BR-8286-01A-12D-2340-08 TCGA-BR-8286-10A-01D-2340-08 Untested Somatic Phase_I WXS none Illumina GAIIx e0d70de9-86fb-406d-8959-9089f3a44127 8fb6969d-2604-44c5-88ff-6fdd69c9a472 g.chr10:45430170C>A uc001jbn.2 + 5 613 c.416C>A c.(415-417)GCC>GAC p.A139D uc001jbk.1_Intron|uc001jbl.2_Intron|TMEM72_uc009xmm.1_Missense_Mutation_p.A21D NM_001123376 NP_001116848 A0PK05 TMM72_HUMAN transmembrane protein 72 139 integral to membrane 0 AGGAAAGCTGCCCCCGAGGTG 0.592000 ZWINT 11130 broad.mit.edu 37 10 58118593 58118593 + Missense_Mutation SNP G G A TCGA-BR-8286-01A-12D-2340-08 TCGA-BR-8286-10A-01D-2340-08 Untested Somatic Phase_I WXS none Illumina GAIIx e0d70de9-86fb-406d-8959-9089f3a44127 8fb6969d-2604-44c5-88ff-6fdd69c9a472 g.chr10:58118593G>A uc001jjx.1 - 6 633 c.596C>T c.(595-597)GCA>GTA p.A199V ZWINT_uc001jjy.1_Intron|ZWINT_uc001jka.1_Missense_Mutation_p.A199V|ZWINT_uc009xoy.1_RNA NM_007057 NP_008988 O95229 ZWINT_HUMAN ZW10 interactor isoform a 199 Potential. cell division|establishment of localization in cell|mitotic cell cycle checkpoint|mitotic prometaphase|mitotic sister chromatid segregation|phosphatidylinositol-mediated signaling|spindle organization condensed chromosome kinetochore|cytosol|nucleus protein N-terminus binding 0 CTCCTGTTCTGCCTGCTGCTT 0.537000 CCAR1 55749 broad.mit.edu 37 10 70547722 70547722 + Silent SNP T T G TCGA-BR-8286-01A-12D-2340-08 TCGA-BR-8286-10A-01D-2340-08 Untested Somatic Phase_I WXS none Illumina GAIIx e0d70de9-86fb-406d-8959-9089f3a44127 8fb6969d-2604-44c5-88ff-6fdd69c9a472 g.chr10:70547722T>G uc001joo.2 + 22 3038 c.2919T>G c.(2917-2919)TCT>TCG p.S973S CCAR1_uc010qiz.1_Silent_p.S958S|CCAR1_uc010qjb.1_RNA NM_018237 NP_060707 Q8IX12 CCAR1_HUMAN cell-cycle and apoptosis regulatory protein 1 973 apoptosis|cell cycle|nuclear mRNA splicing, via spliceosome|regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleoplasm|perinuclear region of cytoplasm calcium ion binding|nucleic acid binding|protein binding ovary(6)|large_intestine(1) 7 TCCGTGAATCTTGCTTTTACC 0.348000 AVPI1 60370 broad.mit.edu 37 10 99439503 99439503 + Missense_Mutation SNP G G C rs147898720 TCGA-BR-8286-01A-12D-2340-08 TCGA-BR-8286-10A-01D-2340-08 Untested Somatic Phase_I WXS none Illumina GAIIx e0d70de9-86fb-406d-8959-9089f3a44127 8fb6969d-2604-44c5-88ff-6fdd69c9a472 g.chr10:99439503G>C uc001koh.1 - 2 271 c.160C>G c.(160-162)CGG>GGG p.R54G AVPI1_uc001koi.2_Missense_Mutation_p.R54G NM_021732 NP_068378 Q5T686 AVPI1_HUMAN vasopressin-induced protein, 32kDa 54 cell cycle breast(1) 1 Colorectal(252;0.162) Epithelial(162;8.37e-11)|all cancers(201;7.94e-09) ATCTGTGCCCGTTCCTCGGCC 0.662000 C10orf137 26098 broad.mit.edu 37 10 127427012 127427012 + Missense_Mutation SNP A A C TCGA-BR-8286-01A-12D-2340-08 TCGA-BR-8286-10A-01D-2340-08 Untested Somatic Phase_I WXS none Illumina GAIIx e0d70de9-86fb-406d-8959-9089f3a44127 8fb6969d-2604-44c5-88ff-6fdd69c9a472 g.chr10:127427012A>C uc001liq.1 + 15 2272 c.1979A>C c.(1978-1980)AAA>ACA p.K660T C10orf137_uc001lin.2_Missense_Mutation_p.K626T|C10orf137_uc001lio.1_Missense_Mutation_p.K626T|C10orf137_uc001lip.1_Missense_Mutation_p.K364T|C10orf137_uc001lir.2_Missense_Mutation_p.K154T|C10orf137_uc001lis.1_5'Flank NM_015608 NP_056423 Q3B7T1 EDRF1_HUMAN erythroid differentiation-related factor 1 660 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus binding ovary(5)|large_intestine(3)|lung(2) 10 all_lung(145;0.0096)|Lung NSC(174;0.0145)|Colorectal(57;0.0846)|all_neural(114;0.0936) TTTTTGGACAAAAGTAAGTTG 0.418000 OR51G2 81282 broad.mit.edu 37 11 4936037 4936037 + Missense_Mutation SNP A A C TCGA-BR-8286-01A-12D-2340-08 TCGA-BR-8286-10A-01D-2340-08 Untested Somatic Phase_I WXS none Illumina GAIIx e0d70de9-86fb-406d-8959-9089f3a44127 8fb6969d-2604-44c5-88ff-6fdd69c9a472 g.chr11:4936037A>C uc001lzr.1 - 1 857 c.857T>G c.(856-858)CTT>CGT p.L286R NM_001005238 NP_001005238 Q8NGK0 O51G2_HUMAN olfactory receptor, family 51, subfamily G, 286 Helical; Name=7; (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity skin(2) 2 Medulloblastoma(188;0.0075)|all_neural(188;0.0577)|Breast(177;0.086) Epithelial(150;5.06e-12)|BRCA - Breast invasive adenocarcinoma(625;0.00438)|LUSC - Lung squamous cell carcinoma(625;0.19) AGGAAAGAGAAGATACATGAA 0.498000 OR51G2 81282 broad.mit.edu 37 11 4936528 4936528 + Silent SNP A A G rs142042736 byFrequency TCGA-BR-8286-01A-12D-2340-08 TCGA-BR-8286-10A-01D-2340-08 Untested Somatic Phase_I WXS none Illumina GAIIx e0d70de9-86fb-406d-8959-9089f3a44127 8fb6969d-2604-44c5-88ff-6fdd69c9a472 g.chr11:4936528A>G uc001lzr.1 - 1 366 c.366T>C c.(364-366)TCT>TCC p.S122S NM_001005238 NP_001005238 Q8NGK0 O51G2_HUMAN olfactory receptor, family 51, subfamily G, 122 Helical; Name=3; (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity skin(2) 2 Medulloblastoma(188;0.0075)|all_neural(188;0.0577)|Breast(177;0.086) Epithelial(150;5.06e-12)|BRCA - Breast invasive adenocarcinoma(625;0.00438)|LUSC - Lung squamous cell carcinoma(625;0.19) CAAAGGCCATAGACAGTAGCA 0.502000 APBB1 322 broad.mit.edu 37 11 6422615 6422615 + Silent SNP G G T TCGA-BR-8286-01A-12D-2340-08 TCGA-BR-8286-10A-01D-2340-08 Untested Somatic Phase_I WXS none Illumina GAIIx e0d70de9-86fb-406d-8959-9089f3a44127 8fb6969d-2604-44c5-88ff-6fdd69c9a472 g.chr11:6422615G>T uc001mdb.1 - 10 1648 c.1548C>A c.(1546-1548)CTC>CTA p.L516L APBB1_uc001mcz.1_Silent_p.L135L|APBB1_uc001mdd.3_Silent_p.L294L|APBB1_uc001mda.2_Silent_p.L41L|APBB1_uc001mdc.1_Silent_p.L514L|APBB1_uc010rab.1_Silent_p.L41L|APBB1_uc010rac.1_RNA|APBB1_uc010rad.1_Silent_p.L233L NM_001164 NP_001155 O00213 APBB1_HUMAN amyloid beta A4 precursor protein-binding, 516 apoptosis|axonogenesis|cell cycle arrest|histone H4 acetylation|negative regulation of cell growth|negative regulation of S phase of mitotic cell cycle|negative regulation of thymidylate synthase biosynthetic process|positive regulation of apoptosis|positive regulation of transcription, DNA-dependent|response to DNA damage stimulus|signal transduction|transcription, DNA-dependent cytoplasm|growth cone|lamellipodium|nucleus|plasma membrane|synapse beta-amyloid binding|chromatin binding|histone binding|proline-rich region binding|transcription factor binding breast(2) 2 Medulloblastoma(188;0.00263)|all_neural(188;0.026)|Breast(177;0.029) Epithelial(150;6.49e-08)|BRCA - Breast invasive adenocarcinoma(625;0.194) GGTCCAGGGAGAGTCCATTTA 0.547000 C11orf41 25758 broad.mit.edu 37 11 33572687 33572687 + Silent SNP G G T TCGA-BR-8286-01A-12D-2340-08 TCGA-BR-8286-10A-01D-2340-08 Untested Somatic Phase_I WXS none Illumina GAIIx e0d70de9-86fb-406d-8959-9089f3a44127 8fb6969d-2604-44c5-88ff-6fdd69c9a472 g.chr11:33572687G>T uc001mup.3 + 4 2854 c.2730G>T c.(2728-2730)GTG>GTT p.V910V C11orf41_uc001mun.1_Silent_p.V910V NM_012194 NP_036326 Q6ZVL6 CK041_HUMAN hypothetical protein LOC25758 904 integral to membrane ovary(2) 2 TGCTGGGTGTGTATGGAGTCA 0.493000 OR5T3 390154 broad.mit.edu 37 11 56020329 56020329 + Silent SNP T T G TCGA-BR-8286-01A-12D-2340-08 TCGA-BR-8286-10A-01D-2340-08 Untested Somatic Phase_I WXS none Illumina GAIIx e0d70de9-86fb-406d-8959-9089f3a44127 8fb6969d-2604-44c5-88ff-6fdd69c9a472 g.chr11:56020329T>G uc010rjd.1 + 1 654 c.654T>G c.(652-654)TCT>TCG p.S218S NM_001004747 NP_001004747 Q8NGG3 OR5T3_HUMAN olfactory receptor, family 5, subfamily T, 218 Extracellular (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity 0 Esophageal squamous(21;0.00448) TTGCTATTTCTTGTTCTGACA 0.398000 OR5B2 390190 broad.mit.edu 37 11 58189920 58189920 + Missense_Mutation SNP G G C TCGA-BR-8286-01A-12D-2340-08 TCGA-BR-8286-10A-01D-2340-08 Untested Somatic Phase_I WXS none Illumina GAIIx e0d70de9-86fb-406d-8959-9089f3a44127 8fb6969d-2604-44c5-88ff-6fdd69c9a472 g.chr11:58189920G>C uc010rkg.1 - 1 815 c.815C>G c.(814-816)GCA>GGA p.A272G NM_001005566 NP_001005566 Q96R09 OR5B2_HUMAN olfactory receptor, family 5, subfamily B, 272 Helical; Name=7; (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity ovary(3) 3 Esophageal squamous(5;0.0027) Breast(21;0.0778) GAACACAGATGCCATTTTGTC 0.488000 NADSYN1 55191 broad.mit.edu 37 11 71208604 71208604 + Missense_Mutation SNP A A T TCGA-BR-8286-01A-12D-2340-08 TCGA-BR-8286-10A-01D-2340-08 Untested Somatic Phase_I WXS none Illumina GAIIx e0d70de9-86fb-406d-8959-9089f3a44127 8fb6969d-2604-44c5-88ff-6fdd69c9a472 g.chr11:71208604A>T uc001oqn.2 + 19 1966 c.1840A>T c.(1840-1842)AGC>TGC p.S614C NADSYN1_uc001oqo.2_Missense_Mutation_p.S354C|NADSYN1_uc001oqp.2_Missense_Mutation_p.S243C NM_018161 NP_060631 Q6IA69 NADE_HUMAN NAD synthetase 1 614 Ligase (By similarity). NAD biosynthetic process|water-soluble vitamin metabolic process cytosol ATP binding|hydrolase activity, acting on carbon-nitrogen (but not peptide) bonds|NAD+ synthase (glutamine-hydrolyzing) activity|protein binding ovary(2) 2 L-Glutamic Acid(DB00142)|L-Glutamine(DB00130) GGGGCCCTACAGCATGTTCTG 0.522000 APOA4 337 broad.mit.edu 37 11 116692384 116692384 + Silent SNP C C T TCGA-BR-8286-01A-12D-2340-08 TCGA-BR-8286-10A-01D-2340-08 Untested Somatic Phase_I WXS none Illumina GAIIx e0d70de9-86fb-406d-8959-9089f3a44127 8fb6969d-2604-44c5-88ff-6fdd69c9a472 g.chr11:116692384C>T uc001pps.1 - 3 494 c.390G>A c.(388-390)GAG>GAA p.E130E NM_000482 NP_000473 apolipoprotein A-IV precursor 0 all_hematologic(175;0.0487) Breast(348;0.0126)|Medulloblastoma(222;0.0425)|all_hematologic(158;0.0564)|all_neural(223;0.234) BRCA - Breast invasive adenocarcinoma(274;8.54e-06)|Epithelial(105;1.62e-05)|all cancers(92;0.000165)|OV - Ovarian serous cystadenocarcinoma(223;0.148) gctgctgaagctctcgcaggt 0.284000 MCAM 4162 broad.mit.edu 37 11 119183298 119183298 + Missense_Mutation SNP C C T TCGA-BR-8286-01A-12D-2340-08 TCGA-BR-8286-10A-01D-2340-08 Untested Somatic Phase_I WXS none Illumina GAIIx e0d70de9-86fb-406d-8959-9089f3a44127 8fb6969d-2604-44c5-88ff-6fdd69c9a472 g.chr11:119183298C>T uc001pwf.2 - 7 829 c.800G>A c.(799-801)CGC>CAC p.R267H MCAM_uc001pwg.1_5'Flank NM_006500 NP_006491 P43121 MUC18_HUMAN melanoma cell adhesion molecule 267 Ig-like C2-type 1.|Extracellular (Potential). anatomical structure morphogenesis|cell adhesion integral to membrane|plasma membrane p.R267H(1) ovary(2)|breast(1)|central_nervous_system(1) 4 Medulloblastoma(222;0.0425)|Breast(348;0.052)|all_neural(223;0.112) BRCA - Breast invasive adenocarcinoma(274;3.78e-05) GATTTCCACGCGGTCCCCTTC 0.577000 OR10G4 390264 broad.mit.edu 37 11 123886393 123886393 + Silent SNP C C T TCGA-BR-8286-01A-12D-2340-08 TCGA-BR-8286-10A-01D-2340-08 Untested Somatic Phase_I WXS none Illumina GAIIx e0d70de9-86fb-406d-8959-9089f3a44127 8fb6969d-2604-44c5-88ff-6fdd69c9a472 g.chr11:123886393C>T uc010sac.1 + 1 112 c.112C>T c.(112-114)CTG>TTG p.L38L NM_001004462 NP_001004462 Q8NGN3 O10G4_HUMAN olfactory receptor, family 10, subfamily G, 38 Helical; Name=1; (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity skin(2)|ovary(1)|central_nervous_system(1) 4 Breast(109;0.00867)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.118)|all_lung(97;0.126)|all_neural(223;0.22) BRCA - Breast invasive adenocarcinoma(274;4.88e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0401) GCTCACTGTGCTGGGGAACCT 0.562000 FLI1 2313 broad.mit.edu 37 11 128679074 128679074 + Silent SNP G G T TCGA-BR-8286-01A-12D-2340-08 TCGA-BR-8286-10A-01D-2340-08 Untested Somatic Phase_I WXS none Illumina GAIIx e0d70de9-86fb-406d-8959-9089f3a44127 8fb6969d-2604-44c5-88ff-6fdd69c9a472 g.chr11:128679074G>T uc010sbu.1 + 8 1145 c.804G>T c.(802-804)CCG>CCT p.P268P FLI1_uc010sbt.1_Silent_p.P75P|FLI1_uc010sbv.1_Silent_p.P235P|FLI1_uc009zci.2_Silent_p.P202P NM_002017 NP_002008 Q01543 FLI1_HUMAN Friend leukemia virus integration 1 268 hemostasis|organ morphogenesis nucleus protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity EWSR1/FLI1(2266) bone(2210)|soft_tissue(48)|autonomic_ganglia(4)|central_nervous_system(4)|lung(3)|ovary(2)|pancreas(2) 2273 all_hematologic(175;0.0641) Lung NSC(97;0.00588)|all_lung(97;0.00764)|Breast(109;0.0115)|Medulloblastoma(222;0.0523)|all_neural(223;0.0862)|all_hematologic(192;0.182) OV - Ovarian serous cystadenocarcinoma(99;0.01)|LUSC - Lung squamous cell carcinoma(976;0.0324)|Lung(977;0.0327) TCCTGGGCCCGACCAGCAGTC 0.423000 T EWSR1 Ewing sarcoma FAM90A1 55138 broad.mit.edu 37 12 8375360 8375360 + Silent SNP C C T TCGA-BR-8286-01A-12D-2340-08 TCGA-BR-8286-10A-01D-2340-08 Untested Somatic Phase_I WXS none Illumina GAIIx e0d70de9-86fb-406d-8959-9089f3a44127 8fb6969d-2604-44c5-88ff-6fdd69c9a472 g.chr12:8375360C>T uc001qui.2 - 7 1012 c.453G>A c.(451-453)CCG>CCA p.P151P FAM90A1_uc001quh.2_Silent_p.P151P NM_018088 NP_060558 Q86YD7 F90A1_HUMAN hypothetical protein LOC55138 151 nucleic acid binding|zinc ion binding ovary(1) 1 Kidney(36;0.0866) TTGTGTGGACCGGCATTGGCC 0.527000 KRT5 3852 broad.mit.edu 37 12 52912853 52912853 + Missense_Mutation SNP T T A TCGA-BR-8286-01A-12D-2340-08 TCGA-BR-8286-10A-01D-2340-08 Untested Somatic Phase_I WXS none Illumina GAIIx e0d70de9-86fb-406d-8959-9089f3a44127 8fb6969d-2604-44c5-88ff-6fdd69c9a472 g.chr12:52912853T>A uc001san.2 - 2 810 c.647A>T c.(646-648)GAG>GTG p.E216V KRT5_uc009zmh.2_Missense_Mutation_p.E216V NM_000424 NP_000415 P13647 K2C5_HUMAN keratin 5 216 Rod.|Linker 1. epidermis development|hemidesmosome assembly cytosol|keratin filament protein binding|structural constituent of cytoskeleton 0 BRCA - Breast invasive adenocarcinoma(357;0.189) GAACAACGGCTCCAGGTTCTG 0.607000 IKZF4 64375 broad.mit.edu 37 12 56420736 56420736 + Missense_Mutation SNP G G A TCGA-BR-8286-01A-12D-2340-08 TCGA-BR-8286-10A-01D-2340-08 Untested Somatic Phase_I WXS none Illumina GAIIx e0d70de9-86fb-406d-8959-9089f3a44127 8fb6969d-2604-44c5-88ff-6fdd69c9a472 g.chr12:56420736G>A uc001sjb.1 + 5 617 c.458G>A c.(457-459)CGG>CAG p.R153Q IKZF4_uc010sqa.1_Missense_Mutation_p.R106Q|IKZF4_uc001sjc.1_Missense_Mutation_p.R153Q|IKZF4_uc001sjd.1_Missense_Mutation_p.R51Q|IKZF4_uc009zoi.1_Missense_Mutation_p.R108Q|IKZF4_uc001sje.1_Missense_Mutation_p.R112Q NM_022465 NP_071910 Q9H2S9 IKZF4_HUMAN zinc finger protein, subfamily 1A, 4 153 negative regulation of transcription, DNA-dependent nucleus DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding ovary(1) 1 UCEC - Uterine corpus endometrioid carcinoma (6;0.025)|OV - Ovarian serous cystadenocarcinoma(18;0.123) GGGGGCATCCGGCTGCCCAAT 0.577000 KSR2 283455 broad.mit.edu 37 12 117914308 117914308 + Missense_Mutation SNP T T G TCGA-BR-8286-01A-12D-2340-08 TCGA-BR-8286-10A-01D-2340-08 Untested Somatic Phase_I WXS none Illumina GAIIx e0d70de9-86fb-406d-8959-9089f3a44127 8fb6969d-2604-44c5-88ff-6fdd69c9a472 g.chr12:117914308T>G uc001two.2 - 17 2511 c.2456A>C c.(2455-2457)AAG>ACG p.K819T NM_173598 NP_775869 Q6VAB6 KSR2_HUMAN kinase suppressor of ras 2 848 Protein kinase. intracellular signal transduction cytoplasm|membrane ATP binding|metal ion binding|protein serine/threonine kinase activity lung(10)|central_nervous_system(2)|stomach(1)|large_intestine(1)|breast(1) 15 all_neural(191;0.0804)|Medulloblastoma(191;0.0922) GAAGGGGAGCTTATCCTCCTC 0.607000 BRCA2 675 broad.mit.edu 37 13 32911315 32911315 + Silent SNP G G C TCGA-BR-8286-01A-12D-2340-08 TCGA-BR-8286-10A-01D-2340-08 Untested Somatic Phase_I WXS none Illumina GAIIx e0d70de9-86fb-406d-8959-9089f3a44127 8fb6969d-2604-44c5-88ff-6fdd69c9a472 g.chr13:32911315G>C uc001uub.1 + 11 3050 c.2823G>C c.(2821-2823)GTG>GTC p.V941V NM_000059 NP_000050 P51587 BRCA2_HUMAN breast cancer 2, early onset 941 Interaction with NPM1. cell cycle cytokinesis|centrosome duplication|double-strand break repair via homologous recombination|negative regulation of mammary gland epithelial cell proliferation|nucleotide-excision repair|positive regulation of transcription, DNA-dependent|regulation of S phase of mitotic cell cycle BRCA2-MAGE-D1 complex|centrosome|nucleoplasm|stored secretory granule gamma-tubulin binding|H3 histone acetyltransferase activity|H4 histone acetyltransferase activity|protease binding|single-stranded DNA binding ovary(20)|endometrium(8)|lung(7)|breast(7)|oesophagus(5)|large_intestine(4)|central_nervous_system(3)|pancreas(3)|skin(2)|upper_aerodigestive_tract(1)|cervix(1)|salivary_gland(1)|liver(1)|kidney(1) 64 Lung SC(185;0.0262) all cancers(112;7.13e-07)|Epithelial(112;1.59e-05)|OV - Ovarian serous cystadenocarcinoma(117;0.000732)|BRCA - Breast invasive adenocarcinoma(63;0.0291)|GBM - Glioblastoma multiforme(144;0.0704) CAACCCAAGTGTCAATTAAAA 0.343000 D|Mis|N|F|S breast|ovarian|pancreatic breast|ovarian|pancreatic|leukemia (FANCB|FANCD1) Direct_reversal_of_damage|Homologous_recombination Fanconi_Anemia_type_D1_bi-allelic_BRCA2_mutations|Fanconi_Anemia|Pancreatic_Cancer_Familial_Clustering_of|Hereditary_Breast-Ovarian_Cancer_BRCA2_type|Hereditary_Prostate_Cancer|Li-Fraumeni_syndrome TCGA Ovarian(8;0.087) MAB21L1 4081 broad.mit.edu 37 13 36049997 36049997 + Silent SNP T T G TCGA-BR-8286-01A-12D-2340-08 TCGA-BR-8286-10A-01D-2340-08 Untested Somatic Phase_I WXS none Illumina GAIIx e0d70de9-86fb-406d-8959-9089f3a44127 8fb6969d-2604-44c5-88ff-6fdd69c9a472 g.chr13:36049997T>G uc001uvc.2 - 1 836 c.279A>C c.(277-279)TCA>TCC p.S93S NBEA_uc001uvb.2_Intron|NBEA_uc010abi.2_Intron|NBEA_uc010tee.1_Intron|NBEA_uc010tef.1_5'Flank|NBEA_uc010teg.1_5'Flank NM_005584 NP_005575 Q13394 MB211_HUMAN mab-21-like protein 1 93 anatomical structure morphogenesis nucleus ovary(2) 2 Breast(139;0.014)|Lung SC(185;0.051)|Prostate(109;0.202) all cancers(112;9.63e-08)|Epithelial(112;1.37e-06)|BRCA - Breast invasive adenocarcinoma(63;0.000659)|OV - Ovarian serous cystadenocarcinoma(117;0.00372)|GBM - Glioblastoma multiforme(144;0.115) AGCCGGGCAGTGAGCCATCGT 0.592000 DCLK1 9201 broad.mit.edu 37 13 36367576 36367576 + Missense_Mutation SNP G G C TCGA-BR-8286-01A-12D-2340-08 TCGA-BR-8286-10A-01D-2340-08 Untested Somatic Phase_I WXS none Illumina GAIIx e0d70de9-86fb-406d-8959-9089f3a44127 8fb6969d-2604-44c5-88ff-6fdd69c9a472 g.chr13:36367576G>C uc001uvf.2 - 16 2218 c.1985C>G c.(1984-1986)GCT>GGT p.A662G DCLK1_uc001uve.3_Missense_Mutation_p.A355G|DCLK1_uc010teh.1_Missense_Mutation_p.A355G|DCLK1_uc010abk.2_Missense_Mutation_p.A182G NM_004734 NP_004725 O15075 DCLK1_HUMAN doublecortin-like kinase 1 662 cell differentiation|central nervous system development|endosome transport|intracellular signal transduction|response to virus integral to plasma membrane ATP binding|protein serine/threonine kinase activity|receptor signaling protein activity stomach(6)|ovary(2)|skin(1) 9 Breast(139;0.0147)|Lung SC(185;0.0685)|Prostate(109;0.122) KIRC - Kidney renal clear cell carcinoma(5;0.119)|Kidney(79;0.169) all cancers(112;1.72e-06)|Epithelial(112;4.24e-05)|BRCA - Breast invasive adenocarcinoma(63;0.00159)|OV - Ovarian serous cystadenocarcinoma(117;0.0158)|GBM - Glioblastoma multiforme(144;0.0638) TATCTTTCCAGCTACTGACAG 0.338000 FAM155A 728215 broad.mit.edu 37 13 108518522 108518522 + Silent SNP G G A TCGA-BR-8286-01A-12D-2340-08 TCGA-BR-8286-10A-01D-2340-08 Untested Somatic Phase_I WXS none Illumina GAIIx e0d70de9-86fb-406d-8959-9089f3a44127 8fb6969d-2604-44c5-88ff-6fdd69c9a472 g.chr13:108518522G>A uc001vql.2 - 1 939 c.423C>T c.(421-423)GGC>GGT p.G141G NM_001080396 NP_001073865 B1AL88 F155A_HUMAN family with sequence similarity 155, member A 141 Poly-Gly. integral to membrane binding skin(1) 1 CCTTGCCGCCGCCGCCGCCGC 0.701000 DAAM1 23002 broad.mit.edu 37 14 59791093 59791093 + Missense_Mutation SNP C C A TCGA-BR-8286-01A-12D-2340-08 TCGA-BR-8286-10A-01D-2340-08 Untested Somatic Phase_I WXS none Illumina GAIIx e0d70de9-86fb-406d-8959-9089f3a44127 8fb6969d-2604-44c5-88ff-6fdd69c9a472 g.chr14:59791093C>A uc001xdz.1 + 8 1035 c.910C>A c.(910-912)CTT>ATT p.L304I DAAM1_uc001xea.1_Missense_Mutation_p.L304I|DAAM1_uc001xeb.1_Missense_Mutation_p.L304I NM_014992 NP_055807 Q9Y4D1 DAAM1_HUMAN dishevelled-associated activator of 304 GBD/FH3. actin cytoskeleton organization cytoplasm|plasma membrane actin binding|Rho GTPase binding ovary(1) 1 OV - Ovarian serous cystadenocarcinoma(108;0.165) TAGACTTCATCTTCGCTATGA 0.279000 NGB 58157 broad.mit.edu 37 14 77737252 77737252 + Missense_Mutation SNP C C T TCGA-BR-8286-01A-12D-2340-08 TCGA-BR-8286-10A-01D-2340-08 Untested Somatic Phase_I WXS none Illumina GAIIx e0d70de9-86fb-406d-8959-9089f3a44127 8fb6969d-2604-44c5-88ff-6fdd69c9a472 g.chr14:77737252C>T uc001xtg.1 - 1 404 c.29G>A c.(28-30)CGG>CAG p.R10Q NM_021257 NP_067080 Q9NPG2 NGB_HUMAN neuroglobin 10 Globin. hemoglobin complex heme binding|oxygen binding|oxygen transporter activity 0 Kidney(204;0.164) BRCA - Breast invasive adenocarcinoma(234;0.0273) CCAGCTCTGCCGGATCAGCTC 0.751000 SHC4 399694 broad.mit.edu 37 15 49148239 49148239 + Missense_Mutation SNP C C T TCGA-BR-8286-01A-12D-2340-08 TCGA-BR-8286-10A-01D-2340-08 Untested Somatic Phase_I WXS none Illumina GAIIx e0d70de9-86fb-406d-8959-9089f3a44127 8fb6969d-2604-44c5-88ff-6fdd69c9a472 g.chr15:49148239C>T uc001zxb.1 - 8 1582 c.1153G>A c.(1153-1155)GTA>ATA p.V385I SHC4_uc010uey.1_Missense_Mutation_p.V142I|SHC4_uc010uez.1_Missense_Mutation_p.V99I NM_203349 NP_976224 Q6S5L8 SHC4_HUMAN rai-like protein 385 CH1. intracellular signal transduction cell junction|postsynaptic membrane ovary(3)|pancreas(2) 5 all_lung(180;0.00466) all cancers(107;9.4e-08)|GBM - Glioblastoma multiforme(94;5.94e-07) ACACCACCTACTGGTGGCTGC 0.428000 ROGDI 79641 broad.mit.edu 37 16 4848162 4848162 + Silent SNP C C T TCGA-BR-8286-01A-12D-2340-08 TCGA-BR-8286-10A-01D-2340-08 Untested Somatic Phase_I WXS none Illumina GAIIx e0d70de9-86fb-406d-8959-9089f3a44127 8fb6969d-2604-44c5-88ff-6fdd69c9a472 g.chr16:4848162C>T uc002cxv.2 - 8 657 c.555G>A c.(553-555)CCG>CCA p.P185P ROGDI_uc002cxu.2_Silent_p.P95P|ROGDI_uc010bua.2_RNA|ROGDI_uc002cxw.2_Silent_p.P95P NM_024589 NP_078865 Q9GZN7 ROGDI_HUMAN leucine zipper domain protein 185 intracellular ovary(1)|skin(1) 2 GCAGGTCGGACGGCAGGGCAG 0.652000 GRIN2A 2903 broad.mit.edu 37 16 9857925 9857925 + Missense_Mutation SNP C C T TCGA-BR-8286-01A-12D-2340-08 TCGA-BR-8286-10A-01D-2340-08 Untested Somatic Phase_I WXS none Illumina GAIIx e0d70de9-86fb-406d-8959-9089f3a44127 8fb6969d-2604-44c5-88ff-6fdd69c9a472 g.chr16:9857925C>T uc002czo.3 - 13 4024 c.3476G>A c.(3475-3477)CGC>CAC p.R1159H GRIN2A_uc010uym.1_Missense_Mutation_p.R1159H|GRIN2A_uc010uyn.1_Missense_Mutation_p.R1002H|GRIN2A_uc002czr.3_Missense_Mutation_p.R1159H NM_001134407 NP_001127879 Q12879 NMDE1_HUMAN N-methyl-D-aspartate receptor subunit 2A isoform 1159 Cytoplasmic (Potential). response to ethanol cell junction|N-methyl-D-aspartate selective glutamate receptor complex|outer membrane-bounded periplasmic space|postsynaptic membrane N-methyl-D-aspartate selective glutamate receptor activity|zinc ion binding skin(32)|NS(5)|ovary(4)|large_intestine(1)|lung(1)|breast(1)|kidney(1) 45 Felbamate(DB00949)|Glycine(DB00145)|L-Glutamic Acid(DB00142)|Loperamide(DB00836)|Memantine(DB01043) GTCCCCCTTGCGGAAGTTTTC 0.532000 ATXN2L 11273 broad.mit.edu 37 16 28841303 28841303 + Missense_Mutation SNP G G A TCGA-BR-8286-01A-12D-2340-08 TCGA-BR-8286-10A-01D-2340-08 Untested Somatic Phase_I WXS none Illumina GAIIx e0d70de9-86fb-406d-8959-9089f3a44127 8fb6969d-2604-44c5-88ff-6fdd69c9a472 g.chr16:28841303G>A uc002drc.2 + 8 1126 c.958G>A c.(958-960)GGG>AGG p.G320R uc010vct.1_Intron|ATXN2L_uc010byl.1_Missense_Mutation_p.G320R|ATXN2L_uc002drb.2_Missense_Mutation_p.G320R|ATXN2L_uc002dqy.2_Missense_Mutation_p.G320R|ATXN2L_uc002dra.2_Missense_Mutation_p.G320R|ATXN2L_uc002dqz.2_Missense_Mutation_p.G320R|ATXN2L_uc010vdb.1_Missense_Mutation_p.G320R|ATXN2L_uc002dre.2_Missense_Mutation_p.G320R|ATXN2L_uc002drf.2_5'UTR NM_007245 NP_009176 Q8WWM7 ATX2L_HUMAN ataxin 2 related protein isoform A 320 membrane upper_aerodigestive_tract(1)|ovary(1) 2 GAACGACGATGGGCGCACTGA 0.612000 CES2 8824 broad.mit.edu 37 16 66976138 66976138 + Missense_Mutation SNP T T C TCGA-BR-8286-01A-12D-2340-08 TCGA-BR-8286-10A-01D-2340-08 Untested Somatic Phase_I WXS none Illumina GAIIx e0d70de9-86fb-406d-8959-9089f3a44127 8fb6969d-2604-44c5-88ff-6fdd69c9a472 g.chr16:66976138T>C uc002eqr.2 + 9 2460 c.1460T>C c.(1459-1461)GTA>GCA p.V487A CES2_uc002eqq.2_Missense_Mutation_p.V487A|CES2_uc002eqs.2_Missense_Mutation_p.V330A NM_003869 NP_003860 O00748 EST2_HUMAN carboxylesterase 2 isoform 1 423 catabolic process endoplasmic reticulum lumen carboxylesterase activity|methyl indole-3-acetate esterase activity|methyl jasmonate esterase activity|methyl salicylate esterase activity 0 Ovarian(137;0.0563) OV - Ovarian serous cystadenocarcinoma(108;0.0663)|Epithelial(162;0.166) GCACTCCAAGTAGCACATTTT 0.567000 EDC4 23644 broad.mit.edu 37 16 67918031 67918031 + Missense_Mutation SNP G G A TCGA-BR-8286-01A-12D-2340-08 TCGA-BR-8286-10A-01D-2340-08 Untested Somatic Phase_I WXS none Illumina GAIIx e0d70de9-86fb-406d-8959-9089f3a44127 8fb6969d-2604-44c5-88ff-6fdd69c9a472 g.chr16:67918031G>A uc002eur.2 + 29 4352 c.4186G>A c.(4186-4188)GTG>ATG p.V1396M EDC4_uc010cer.2_Missense_Mutation_p.V1015M|EDC4_uc002eus.2_Missense_Mutation_p.V1126M|EDC4_uc002eut.1_3'UTR|NRN1L_uc002euu.2_5'Flank NM_014329 NP_055144 Q6P2E9 EDC4_HUMAN autoantigen RCD8 1396 exonucleolytic nuclear-transcribed mRNA catabolic process involved in deadenylation-dependent decay cytoplasmic mRNA processing body|cytosol|nucleus protein binding ovary(2)|central_nervous_system(2) 4 Ovarian(137;0.0563) OV - Ovarian serous cystadenocarcinoma(108;0.0042)|Epithelial(162;0.0185)|all cancers(182;0.121) GCATGGCCTCGTGACCCCCAG 0.632000 OREG0023890 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) FTSJD1 55783 broad.mit.edu 37 16 71319389 71319389 + Silent SNP T T C rs111584309 TCGA-BR-8286-01A-12D-2340-08 TCGA-BR-8286-10A-01D-2340-08 Untested Somatic Phase_I WXS none Illumina GAIIx e0d70de9-86fb-406d-8959-9089f3a44127 8fb6969d-2604-44c5-88ff-6fdd69c9a472 g.chr16:71319389T>C uc010cga.2 - 3 841 c.435A>G c.(433-435)GAA>GAG p.E145E FTSJD1_uc002ezy.3_Silent_p.E145E|FTSJD1_uc002ezz.3_Silent_p.E145E NM_001099642 NP_001093112 Q8IYT2 FTSJ1_HUMAN FtsJ methyltransferase domain containing 1 145 integral to membrane methyltransferase activity|nucleic acid binding skin(1) 1 CTCCTGGAGCTTCACAAAGGT 0.418000 CHST6 4166 broad.mit.edu 37 16 75513372 75513372 + Missense_Mutation SNP C C G TCGA-BR-8286-01A-12D-2340-08 TCGA-BR-8286-10A-01D-2340-08 Untested Somatic Phase_I WXS none Illumina GAIIx e0d70de9-86fb-406d-8959-9089f3a44127 8fb6969d-2604-44c5-88ff-6fdd69c9a472 g.chr16:75513372C>G uc002fef.2 - 3 535 c.355G>C c.(355-357)GAC>CAC p.D119H CHST6_uc002feg.1_RNA|CHST6_uc002feh.1_Missense_Mutation_p.D119H NM_021615 NP_067628 Q9GZX3 CHST6_HUMAN carbohydrate (N-acetylglucosamine 6-O) 119 Lumenal (Potential). keratan sulfate biosynthetic process|N-acetylglucosamine metabolic process Golgi membrane|integral to membrane N-acetylglucosamine 6-O-sulfotransferase activity 0 TGGAAGAGGTCGGACAGGTTG 0.657000 TP53 7157 broad.mit.edu 37 17 7577548 7577548 + Missense_Mutation SNP C C T rs28934575 TCGA-BR-8286-01A-12D-2340-08 TCGA-BR-8286-10A-01D-2340-08 Untested Somatic Phase_I WXS none Illumina GAIIx e0d70de9-86fb-406d-8959-9089f3a44127 8fb6969d-2604-44c5-88ff-6fdd69c9a472 g.chr17:7577548C>T uc002gim.2 - 7 927 c.733G>A c.(733-735)GGC>AGC p.G245S TP53_uc002gig.1_Missense_Mutation_p.G245S|TP53_uc002gih.2_Missense_Mutation_p.G245S|TP53_uc010cne.1_5'Flank|TP53_uc010cnf.1_Missense_Mutation_p.G113S|TP53_uc010cng.1_Missense_Mutation_p.G113S|TP53_uc002gii.1_Missense_Mutation_p.G113S|TP53_uc010cnh.1_Missense_Mutation_p.G245S|TP53_uc010cni.1_Missense_Mutation_p.G245S|TP53_uc002gij.2_Missense_Mutation_p.G245S|TP53_uc010cnj.1_RNA|TP53_uc002gin.2_Missense_Mutation_p.G152S|TP53_uc002gio.2_Missense_Mutation_p.G113S NM_001126112 NP_001119584 P04637 P53_HUMAN tumor protein p53 isoform a 245 |Interaction with HIPK1 (By similarity).|Interacts with the 53BP2 SH3 domain.|Interaction with AXIN1 (By similarity). G -> N (in sporadic cancers; somatic mutation; requires 2 nucleotide substitutions).|G -> A (in sporadic cancers; somatic mutation).|G -> V (in LFS; germline mutation and in sporadic cancers; somatic mutation).|G -> F (in sporadic cancers; somatic mutation; requires 2 nucleotide substitutions).|G -> R (in sporadic cancers; somatic mutation).|G -> E (in a sporadic cancer; somatic mutation).|G -> D (in LFS; germline mutation and in sporadic cancers; somatic mutation).|G -> H (in a sporadic cancer; somatic mutation; requires 2 nucleotide substitutions).|G -> L (in sporadic cancers; somatic mutation; requires 2 nucleotide substitutions).|G -> C (in 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.G245S(274)|p.G245D(93)|p.G245V(50)|p.G245C(47)|p.G245R(10)|p.G245A(8)|p.0?(7)|p.G245G(3)|p.G245fs*2(3)|p.G245N(2)|p.G245H(1)|p.G245L(1)|p.G244fs*17(1)|p.G245F(1)|p.G245E(1)|p.C242_M246>L(1)|p.C238_M246delCNSSCMGGM(1)|p.S241_G245delSCMGG(1)|p.C242fs*98(1)|p.G245fs*22(1)|p.M243fs*18(1)|p.G245del(1)|p.G245fs*14(1)|p.G245fs*17(1)|p.G245fs*16(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) CGGTTCATGCCGCCCATGCAG 0.577000 G245S(SKLMS1_SOFT_TISSUE)|G245S(LS1034_LARGE_INTESTINE)|G245S(NUGC2_STOMACH)|G245S(PANC0403_PANCREAS)|G245S(SKMEL2_SKIN) 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) SMCR7 125170 broad.mit.edu 37 17 18166065 18166065 + Missense_Mutation SNP C C T TCGA-BR-8286-01A-12D-2340-08 TCGA-BR-8286-10A-01D-2340-08 Untested Somatic Phase_I WXS none Illumina GAIIx e0d70de9-86fb-406d-8959-9089f3a44127 8fb6969d-2604-44c5-88ff-6fdd69c9a472 g.chr17:18166065C>T uc002gst.2 + 2 242 c.31C>T c.(31-33)CGG>TGG p.R11W SMCR7_uc002gsu.2_Missense_Mutation_p.R11W|SMCR7_uc010vxq.1_Missense_Mutation_p.R22W NM_139162 NP_631901 Q96C03 SMCR7_HUMAN Smith-Magenis syndrome chromosome region, 11 integral to membrane protein binding 0 all_neural(463;0.228) ACGGGGGAAGCGGCGTAGCGA 0.672000 TBC1D29 26083 broad.mit.edu 37 17 28887643 28887643 + Silent SNP C C T TCGA-BR-8286-01A-12D-2340-08 TCGA-BR-8286-10A-01D-2340-08 Untested Somatic Phase_I WXS none Illumina GAIIx e0d70de9-86fb-406d-8959-9089f3a44127 8fb6969d-2604-44c5-88ff-6fdd69c9a472 g.chr17:28887643C>T uc002hfh.2 + 3 236 c.87C>T c.(85-87)CTC>CTT p.L29L TBC1D29_uc002hfi.2_RNA|uc002hfj.1_5'Flank NM_015594 NP_056409 Q9UFV1 TBC29_HUMAN TBC1 domain family, member 29 29 Rab-GAP TBC; truncated. intracellular Rab GTPase activator activity 0 Myeloproliferative disorder(56;0.0255) AGATCTCTCTCGGGCTCACCC 0.552000 SMARCE1 6605 broad.mit.edu 37 17 38792281 38792281 + Missense_Mutation SNP C C T TCGA-BR-8286-01A-12D-2340-08 TCGA-BR-8286-10A-01D-2340-08 Untested Somatic Phase_I WXS none Illumina GAIIx e0d70de9-86fb-406d-8959-9089f3a44127 8fb6969d-2604-44c5-88ff-6fdd69c9a472 g.chr17:38792281C>T uc002hux.2 - 7 567 c.443G>A c.(442-444)CGT>CAT p.R148H SMARCE1_uc010wff.1_Missense_Mutation_p.R113H|SMARCE1_uc010wfg.1_Missense_Mutation_p.R78H|SMARCE1_uc002huy.2_Missense_Mutation_p.R113H|SMARCE1_uc010wfh.1_Missense_Mutation_p.R78H|SMARCE1_uc010wfi.1_Missense_Mutation_p.R130H|SMARCE1_uc002huz.1_Missense_Mutation_p.R113H|SMARCE1_uc010wfj.1_Missense_Mutation_p.R130H NM_003079 NP_003070 Q969G3 SMCE1_HUMAN SWI/SNF-related matrix-associated 148 chromatin modification|negative regulation of transcription, DNA-dependent|nervous system development|nucleosome disassembly|regulation of transcription from RNA polymerase II promoter nBAF complex|npBAF complex|nuclear chromosome|SWI/SNF complex|transcriptional repressor complex chromatin binding|DNA binding|N-acetyltransferase activity|protein binding|protein N-terminus binding|transcription coactivator activity 0 Breast(137;0.000812) AGCTTCTGCACGACTTTTTGC 0.413000 DNAI2 64446 broad.mit.edu 37 17 72295929 72295929 + Missense_Mutation SNP T T C TCGA-BR-8286-01A-12D-2340-08 TCGA-BR-8286-10A-01D-2340-08 Untested Somatic Phase_I WXS none Illumina GAIIx e0d70de9-86fb-406d-8959-9089f3a44127 8fb6969d-2604-44c5-88ff-6fdd69c9a472 g.chr17:72295929T>C uc002jkf.2 + 7 896 c.797T>C c.(796-798)GTG>GCG p.V266A DNAI2_uc002jkg.2_RNA|DNAI2_uc010dfp.2_RNA NM_023036 NP_075462 Q9GZS0 DNAI2_HUMAN dynein, axonemal, intermediate polypeptide 2 266 WD 3. cilium assembly axonemal dynein complex|cilium axoneme|cytoplasm|microtubule microtubule motor activity ovary(2)|central_nervous_system(1) 3 CGAGACCCTGTGTATGGCACC 0.612000 Kartagener_syndrome IER3IP1 51124 broad.mit.edu 37 18 44683851 44683851 + Missense_Mutation SNP G G A TCGA-BR-8286-01A-12D-2340-08 TCGA-BR-8286-10A-01D-2340-08 Untested Somatic Phase_I WXS none Illumina GAIIx e0d70de9-86fb-406d-8959-9089f3a44127 8fb6969d-2604-44c5-88ff-6fdd69c9a472 g.chr18:44683851G>A uc002lcu.2 - 2 246 c.149C>T c.(148-150)TCA>TTA p.S50L NM_016097 NP_057181 Q9Y5U9 IR3IP_HUMAN immediate early response 3 interacting protein 50 endoplasmic reticulum membrane|Golgi apparatus|integral to membrane 0 CATTAGCTGTGATTTAATTCC 0.378000 SERPINB12 89777 broad.mit.edu 37 18 61231355 61231355 + Splice_Site SNP T T C TCGA-BR-8286-01A-12D-2340-08 TCGA-BR-8286-10A-01D-2340-08 Untested Somatic Phase_I WXS none Illumina GAIIx e0d70de9-86fb-406d-8959-9089f3a44127 8fb6969d-2604-44c5-88ff-6fdd69c9a472 g.chr18:61231355T>C uc010xen.1 + 5 645 c.645_splice c.e5+2 p.A215_splice SERPINB12_uc010xeo.1_Splice_Site_p.A235_splice NM_080474 NP_536722 Q96P63 SPB12_HUMAN serine (or cysteine) proteinase inhibitor, clade negative regulation of protein catabolic process|regulation of proteolysis cytoplasm enzyme binding|serine-type endopeptidase inhibitor activity 0 CTAAATGCGGTAGTGTATCAG 0.388000 SERPINB13 5275 broad.mit.edu 37 18 61255944 61255944 + Missense_Mutation SNP C C A TCGA-BR-8286-01A-12D-2340-08 TCGA-BR-8286-10A-01D-2340-08 Untested Somatic Phase_I WXS none Illumina GAIIx e0d70de9-86fb-406d-8959-9089f3a44127 8fb6969d-2604-44c5-88ff-6fdd69c9a472 g.chr18:61255944C>A uc002ljc.2 + 2 211 c.43C>A c.(43-45)CTT>ATT p.L15I SERPINB13_uc002ljd.2_5'UTR|SERPINB13_uc010xep.1_Missense_Mutation_p.L15I|SERPINB13_uc010xeq.1_5'UTR|SERPINB13_uc010xer.1_5'UTR NM_012397 NP_036529 Q9UIV8 SPB13_HUMAN serine (or cysteine) proteinase inhibitor, clade 15 regulation of proteolysis|response to UV cytoplasm|extracellular region serine-type endopeptidase inhibitor activity ovary(1) 1 TGGGTTTGATCTTTTCAAAGA 0.453000 RFX2 5990 broad.mit.edu 37 19 6004219 6004219 + Missense_Mutation SNP T T A TCGA-BR-8286-01A-12D-2340-08 TCGA-BR-8286-10A-01D-2340-08 Untested Somatic Phase_I WXS none Illumina GAIIx e0d70de9-86fb-406d-8959-9089f3a44127 8fb6969d-2604-44c5-88ff-6fdd69c9a472 g.chr19:6004219T>A uc002meb.2 - 13 1762 c.1493A>T c.(1492-1494)CAG>CTG p.Q498L RFX2_uc002mec.2_Missense_Mutation_p.Q473L NM_000635 NP_000626 P48378 RFX2_HUMAN regulatory factor X2 isoform a 498 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding breast(4)|ovary(1)|skin(1) 6 CACCTTGGTCTGGATGACCTG 0.597000 ZNF266 10781 broad.mit.edu 37 19 9524819 9524819 + Missense_Mutation SNP G G A TCGA-BR-8286-01A-12D-2340-08 TCGA-BR-8286-10A-01D-2340-08 Untested Somatic Phase_I WXS none Illumina GAIIx e0d70de9-86fb-406d-8959-9089f3a44127 8fb6969d-2604-44c5-88ff-6fdd69c9a472 g.chr19:9524819G>A uc002mll.2 - 4 1048 c.782C>T c.(781-783)ACT>ATT p.T261I ZNF266_uc002mlm.2_Missense_Mutation_p.T261I|ZNF266_uc002mln.2_Missense_Mutation_p.T261I|ZNF266_uc002mlo.2_Missense_Mutation_p.T261I|ZNF266_uc010dwp.2_Missense_Mutation_p.T261I|ZNF266_uc010dwq.2_Missense_Mutation_p.T261I NM_198058 NP_932175 Q14584 ZN266_HUMAN zinc finger protein 266 261 C2H2-type 4. regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding ovary(1) 1 TCCAGTGTGAGTTTTTCTGTG 0.433000 ZNF181 339318 broad.mit.edu 37 19 35232159 35232159 + Silent SNP A A G TCGA-BR-8286-01A-12D-2340-08 TCGA-BR-8286-10A-01D-2340-08 Untested Somatic Phase_I WXS none Illumina GAIIx e0d70de9-86fb-406d-8959-9089f3a44127 8fb6969d-2604-44c5-88ff-6fdd69c9a472 g.chr19:35232159A>G uc002nvu.3 + 4 1336 c.873A>G c.(871-873)AAA>AAG p.K291K ZNF181_uc010xsa.1_Silent_p.K290K|ZNF181_uc010xsb.1_Silent_p.K290K|ZNF181_uc010xsc.1_Silent_p.K226K NM_001029997 NP_001025168 Q2M3W8 ZN181_HUMAN zinc finger protein 181 isoform 1 291 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding ovary(1) 1 all_lung(56;1.13e-07)|Lung NSC(56;1.81e-07)|Esophageal squamous(110;0.162) LUSC - Lung squamous cell carcinoma(66;0.138) GTGGAGAGAAACCTTACAAAT 0.428000 ZNF781 163115 broad.mit.edu 37 19 38160229 38160229 + Missense_Mutation SNP T T C TCGA-BR-8286-01A-12D-2340-08 TCGA-BR-8286-10A-01D-2340-08 Untested Somatic Phase_I WXS none Illumina GAIIx e0d70de9-86fb-406d-8959-9089f3a44127 8fb6969d-2604-44c5-88ff-6fdd69c9a472 g.chr19:38160229T>C uc002ogy.2 - 4 1563 c.821A>G c.(820-822)AAC>AGC p.N274S ZNF781_uc002ogz.2_Missense_Mutation_p.N269S NM_152605 NP_689818 Q8N8C0 ZN781_HUMAN zinc finger protein 781 274 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding 0 TTCTCTGGTGTTGAATAAGAG 0.368000 LRFN1 57622 broad.mit.edu 37 19 39805107 39805107 + Silent SNP G G A TCGA-BR-8286-01A-12D-2340-08 TCGA-BR-8286-10A-01D-2340-08 Untested Somatic Phase_I WXS none Illumina GAIIx e0d70de9-86fb-406d-8959-9089f3a44127 8fb6969d-2604-44c5-88ff-6fdd69c9a472 g.chr19:39805107G>A uc002okw.2 - 1 870 c.870C>T c.(868-870)CCC>CCT p.P290P NM_020862 NP_065913 Q9P244 LRFN1_HUMAN leucine rich repeat and fibronectin type III 290 LRRCT.|Extracellular (Potential). cell junction|integral to membrane|postsynaptic density|postsynaptic membrane ovary(2) 2 all_cancers(60;1.85e-07)|all_lung(34;4.03e-08)|Lung NSC(34;4.66e-08)|all_epithelial(25;6.4e-07)|Ovarian(47;0.0512) Epithelial(26;1.96e-27)|all cancers(26;2.05e-24)|Lung(45;0.000278)|LUSC - Lung squamous cell carcinoma(53;0.000335) ACTCCTCCTCGGGGATGGACC 0.706000 PSG11 5680 broad.mit.edu 37 19 43523024 43523024 + Missense_Mutation SNP A A G TCGA-BR-8286-01A-12D-2340-08 TCGA-BR-8286-10A-01D-2340-08 Untested Somatic Phase_I WXS none Illumina GAIIx e0d70de9-86fb-406d-8959-9089f3a44127 8fb6969d-2604-44c5-88ff-6fdd69c9a472 g.chr19:43523024A>G uc002ovm.1 - 3 714 c.607T>C c.(607-609)TTT>CTT p.F203L PSG11_uc002ouw.2_Missense_Mutation_p.F209L|PSG10_uc002ouv.1_Intron|PSG6_uc002ovh.1_Intron|PSG6_uc002ovi.2_Intron|PSG6_uc010xwk.1_Intron|PSG11_uc002ovk.1_Missense_Mutation_p.F209L|PSG11_uc002ovn.1_Missense_Mutation_p.F209L|PSG11_uc002ovo.1_Missense_Mutation_p.F81L|PSG11_uc002ovp.1_Missense_Mutation_p.F81L NM_002785 NP_002776 Q9UQ72 PSG11_HUMAN pregnancy specific beta-1-glycoprotein 11 203 Ig-like C2-type 1. female pregnancy extracellular region 0 Prostate(69;0.00682) CCAAATAGAAAGAGGGTCCTG 0.502000 CRX 1406 broad.mit.edu 37 19 48342758 48342758 + Missense_Mutation SNP C C A TCGA-BR-8286-01A-12D-2340-08 TCGA-BR-8286-10A-01D-2340-08 Untested Somatic Phase_I WXS none Illumina GAIIx e0d70de9-86fb-406d-8959-9089f3a44127 8fb6969d-2604-44c5-88ff-6fdd69c9a472 g.chr19:48342758C>A uc002phq.3 + 4 638 c.434C>A c.(433-435)CCT>CAT p.P145H NM_000554 NP_000545 O43186 CRX_HUMAN cone-rod homeobox protein 145 organ morphogenesis|response to stimulus|visual perception leucine zipper domain binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity breast(1)|central_nervous_system(1) 2 all_cancers(25;2.76e-09)|all_epithelial(76;7.01e-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;0.000266)|all cancers(93;0.000788)|Epithelial(262;0.0226)|GBM - Glioblastoma multiforme(486;0.0521) TACAGTCCCCCTCTGCCCGGC 0.672000 VN1R2 317701 broad.mit.edu 37 19 53762734 53762734 + Missense_Mutation SNP G G T TCGA-BR-8286-01A-12D-2340-08 TCGA-BR-8286-10A-01D-2340-08 Untested Somatic Phase_I WXS none Illumina GAIIx e0d70de9-86fb-406d-8959-9089f3a44127 8fb6969d-2604-44c5-88ff-6fdd69c9a472 g.chr19:53762734G>T uc002qbi.2 + 1 1190 c.1106G>T c.(1105-1107)TGC>TTC p.C369F NM_173856 NP_776255 Q8NFZ6 VN1R2_HUMAN vomeronasal 1 receptor 2 369 Cytoplasmic (Potential). response to pheromone integral to membrane|plasma membrane pheromone receptor activity 0 GBM - Glioblastoma multiforme(134;0.00301) GTTCTCATGTGCCGTGACCCC 0.428000 NLRP9 338321 broad.mit.edu 37 19 56235402 56235402 + Silent SNP G G A TCGA-BR-8286-01A-12D-2340-08 TCGA-BR-8286-10A-01D-2340-08 Untested Somatic Phase_I WXS none Illumina GAIIx e0d70de9-86fb-406d-8959-9089f3a44127 8fb6969d-2604-44c5-88ff-6fdd69c9a472 g.chr19:56235402G>A uc002qly.2 - 4 2131 c.2103C>T c.(2101-2103)GAC>GAT p.D701D NM_176820 NP_789790 Q7RTR0 NALP9_HUMAN NLR family, pyrin domain containing 9 701 cytoplasm ATP binding skin(4)|ovary(2)|breast(1) 7 Colorectal(82;0.000133)|Ovarian(87;0.133) GBM - Glioblastoma multiforme(193;0.123) GGTGTCTGATGTCAGACTGGG 0.468000 PEG3 5178 broad.mit.edu 37 19 57335005 57335005 + Missense_Mutation SNP C C T TCGA-BR-8286-01A-12D-2340-08 TCGA-BR-8286-10A-01D-2340-08 Untested Somatic Phase_I WXS none Illumina GAIIx e0d70de9-86fb-406d-8959-9089f3a44127 8fb6969d-2604-44c5-88ff-6fdd69c9a472 g.chr19:57335005C>T uc002qnu.2 - 2 788 c.437G>A c.(436-438)CGG>CAG p.R146Q ZIM2_uc010ygq.1_5'UTR|ZIM2_uc010ygr.1_5'UTR|ZIM2_uc002qnr.2_Missense_Mutation_p.R20Q|ZIM2_uc002qnq.2_Missense_Mutation_p.R20Q|ZIM2_uc010etp.2_Missense_Mutation_p.R20Q|ZIM2_uc010ygs.1_Missense_Mutation_p.R20Q|PEG3_uc002qnt.2_Missense_Mutation_p.R146Q|PEG3_uc002qnv.2_Missense_Mutation_p.R146Q|PEG3_uc002qnw.2_Missense_Mutation_p.R20Q|PEG3_uc002qnx.2_Missense_Mutation_p.R20Q|PEG3_uc010etr.2_Missense_Mutation_p.R146Q NM_001146186 NP_001139658 Q9GZU2 PEG3_HUMAN paternally expressed 3 isoform 1 146 apoptosis|viral reproduction cytoplasm|nucleus nucleic acid binding|sequence-specific DNA binding transcription factor activity|zinc ion binding ovary(7)|skin(2)|upper_aerodigestive_tract(1)|large_intestine(1)|pancreas(1) 12 Colorectal(82;0.000256)|all_neural(62;0.103)|Ovarian(87;0.243) GBM - Glioblastoma multiforme(193;0.0269) TCTTCTGTTCCGGGTCATGTC 0.552000 ZNF530 348327 broad.mit.edu 37 19 58117212 58117212 + Missense_Mutation SNP A A C TCGA-BR-8286-01A-12D-2340-08 TCGA-BR-8286-10A-01D-2340-08 Untested Somatic Phase_I WXS none Illumina GAIIx e0d70de9-86fb-406d-8959-9089f3a44127 8fb6969d-2604-44c5-88ff-6fdd69c9a472 g.chr19:58117212A>C uc002qpk.2 + 3 539 c.319A>C c.(319-321)ATT>CTT p.I107L ZNF547_uc002qpm.3_Intron|ZNF530_uc002qpl.2_RNA NM_020880 NP_065931 Q6P9A1 ZN530_HUMAN zinc finger protein 530 107 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding 0 Colorectal(82;5.46e-05)|all_neural(62;0.0218)|Ovarian(87;0.0443)|Breast(46;0.0848)|Renal(1328;0.157) UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0257) TTTACAAATGATTGAGCTCCA 0.473000 TPO 7173 broad.mit.edu 37 2 1499847 1499847 + Missense_Mutation SNP A A C TCGA-BR-8286-01A-12D-2340-08 TCGA-BR-8286-10A-01D-2340-08 Untested Somatic Phase_I WXS none Illumina GAIIx e0d70de9-86fb-406d-8959-9089f3a44127 8fb6969d-2604-44c5-88ff-6fdd69c9a472 g.chr2:1499847A>C uc002qww.2 + 12 2184 c.2093A>C c.(2092-2094)AAC>ACC p.N698T TPO_uc010ewj.2_Intron|TPO_uc002qwu.2_Missense_Mutation_p.N641T|TPO_uc002qwr.2_Missense_Mutation_p.N698T|TPO_uc002qwx.2_Missense_Mutation_p.N641T|TPO_uc010yio.1_Missense_Mutation_p.N525T|TPO_uc010yip.1_Missense_Mutation_p.N698T|TPO_uc002qwy.1_Missense_Mutation_p.N38T|TPO_uc002qwz.2_Intron NM_000547 NP_000538 P07202 PERT_HUMAN thyroid peroxidase isoform a 698 Extracellular (Potential). cellular nitrogen compound metabolic process|hormone biosynthetic process|hydrogen peroxide catabolic process cell surface|cytoplasm|integral to plasma membrane calcium ion binding|heme binding|iodide peroxidase activity ovary(7)|pancreas(6)|skin(5)|lung(1)|kidney(1) 20 all_hematologic(175;0.0487)|Acute lymphoblastic leukemia(172;0.0627) all_cancers(51;0.0338) all cancers(51;0.0356)|OV - Ovarian serous cystadenocarcinoma(76;0.0748)|Epithelial(75;0.12) Carbimazole(DB00389)|Methimazole(DB00763)|Propylthiouracil(DB00550) ATCTGTGACAACACTGGCCTC 0.567000 TPO 7173 broad.mit.edu 37 2 1500483 1500483 + Missense_Mutation SNP G G C TCGA-BR-8286-01A-12D-2340-08 TCGA-BR-8286-10A-01D-2340-08 Untested Somatic Phase_I WXS none Illumina GAIIx e0d70de9-86fb-406d-8959-9089f3a44127 8fb6969d-2604-44c5-88ff-6fdd69c9a472 g.chr2:1500483G>C uc002qww.2 + 13 2423 c.2332G>C c.(2332-2334)GAG>CAG p.E778Q TPO_uc010ewj.2_Intron|TPO_uc002qwu.2_Missense_Mutation_p.E721Q|TPO_uc002qwr.2_Missense_Mutation_p.E778Q|TPO_uc002qwx.2_Missense_Mutation_p.E721Q|TPO_uc010yio.1_Missense_Mutation_p.E605Q|TPO_uc010yip.1_Missense_Mutation_p.E778Q|TPO_uc002qwy.1_Missense_Mutation_p.E118Q|TPO_uc002qwz.2_Intron NM_000547 NP_000538 P07202 PERT_HUMAN thyroid peroxidase isoform a 778 Extracellular (Potential).|Sushi. cellular nitrogen compound metabolic process|hormone biosynthetic process|hydrogen peroxide catabolic process cell surface|cytoplasm|integral to plasma membrane calcium ion binding|heme binding|iodide peroxidase activity ovary(7)|pancreas(6)|skin(5)|lung(1)|kidney(1) 20 all_hematologic(175;0.0487)|Acute lymphoblastic leukemia(172;0.0627) all_cancers(51;0.0338) all cancers(51;0.0356)|OV - Ovarian serous cystadenocarcinoma(76;0.0748)|Epithelial(75;0.12) Carbimazole(DB00389)|Methimazole(DB00763)|Propylthiouracil(DB00550) CCAAGGCCGGGAGCAGCTCAC 0.552000 GREB1 9687 broad.mit.edu 37 2 11725893 11725893 + Missense_Mutation SNP G G A TCGA-BR-8286-01A-12D-2340-08 TCGA-BR-8286-10A-01D-2340-08 Untested Somatic Phase_I WXS none Illumina GAIIx e0d70de9-86fb-406d-8959-9089f3a44127 8fb6969d-2604-44c5-88ff-6fdd69c9a472 g.chr2:11725893G>A uc002rbk.1 + 9 1321 c.1021G>A c.(1021-1023)GCA>ACA p.A341T GREB1_uc002rbl.2_Missense_Mutation_p.A341T|GREB1_uc002rbn.1_Missense_Mutation_p.A341T|GREB1_uc002rbo.1_5'Flank NM_014668 NP_055483 Q4ZG55 GREB1_HUMAN growth regulation by estrogen in breast cancer 1 341 integral to membrane ovary(1) 1 all_hematologic(175;0.127)|Acute lymphoblastic leukemia(172;0.155) Epithelial(75;0.115)|OV - Ovarian serous cystadenocarcinoma(76;0.186) CCTAGAGAGCGCAGGCATGTC 0.532000 PUM2 23369 broad.mit.edu 37 2 20463105 20463105 + Missense_Mutation SNP G G A TCGA-BR-8286-01A-12D-2340-08 TCGA-BR-8286-10A-01D-2340-08 Untested Somatic Phase_I WXS none Illumina GAIIx e0d70de9-86fb-406d-8959-9089f3a44127 8fb6969d-2604-44c5-88ff-6fdd69c9a472 g.chr2:20463105G>A uc002rds.1 - 13 2097 c.2074C>T c.(2074-2076)CCT>TCT p.P692S PUM2_uc002rdq.1_Missense_Mutation_p.P69S|PUM2_uc002rdt.1_Missense_Mutation_p.P692S|PUM2_uc002rdr.2_Missense_Mutation_p.P552S|PUM2_uc010yjy.1_Missense_Mutation_p.P613S|PUM2_uc002rdu.1_Missense_Mutation_p.P692S|PUM2_uc010yjz.1_Missense_Mutation_p.P631S NM_015317 NP_056132 Q8TB72 PUM2_HUMAN pumilio homolog 2 692 regulation of translation perinuclear region of cytoplasm|stress granule protein binding|RNA binding ovary(1) 1 Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215) AGCCGGGAAGGAGGAAAGAGC 0.463000 ALK 238 broad.mit.edu 37 2 29551215 29551215 + Splice_Site SNP C C T TCGA-BR-8286-01A-12D-2340-08 TCGA-BR-8286-10A-01D-2340-08 Untested Somatic Phase_I WXS none Illumina GAIIx e0d70de9-86fb-406d-8959-9089f3a44127 8fb6969d-2604-44c5-88ff-6fdd69c9a472 g.chr2:29551215C>T uc002rmy.2 - 6 2321 c.1414_splice c.e6+1 p.R472_splice NM_004304 NP_004295 Q9UM73 ALK_HUMAN anaplastic lymphoma kinase precursor protein autophosphorylation|transmembrane receptor protein tyrosine kinase signaling pathway integral to plasma membrane ATP binding|protein binding|transmembrane receptor protein tyrosine kinase activity NPM1/ALK(632)|EML4/ALK(246)|CLTC/ALK(44)|TPM3/ALK(33)|ATIC/ALK(24)|RANBP2/ALK(16)|TPM4/ALK(12)|TFG/ALK(7)|MSN/ALK(6)|CARS/ALK(5)|VCL/ALK(4)|KIF5B/ALK(4)|PPFIBP1/ALK(3)|SEC31A/ALK(3)|SQSTM1/ALK(2) haematopoietic_and_lymphoid_tissue(726)|lung(262)|autonomic_ganglia(148)|soft_tissue(61)|breast(4)|kidney(4)|large_intestine(3)|skin(3)|ovary(3)|thyroid(2)|central_nervous_system(1)|pancreas(1) 1218 Acute lymphoblastic leukemia(172;0.155) Adenosine triphosphate(DB00171) CATCTACTCACGGCACATCTG 0.592000 T|Mis|A NPM1|TPM3|TFG|TPM4|ATIC|CLTC|MSN|ALO17|CARS|EML4 ALCL|NSCLC|Neuroblastoma neuroblastoma Neuroblastoma_Familial_Clustering_of|Congenital_Central_Hypoventilation_Syndrome THADA 63892 broad.mit.edu 37 2 43800003 43800003 + Missense_Mutation SNP G G A TCGA-BR-8286-01A-12D-2340-08 TCGA-BR-8286-10A-01D-2340-08 Untested Somatic Phase_I WXS none Illumina GAIIx e0d70de9-86fb-406d-8959-9089f3a44127 8fb6969d-2604-44c5-88ff-6fdd69c9a472 g.chr2:43800003G>A uc002rsw.3 - 12 2210 c.1858C>T c.(1858-1860)CTC>TTC p.L620F THADA_uc010far.2_5'Flank|THADA_uc002rsx.3_Missense_Mutation_p.L620F|THADA_uc002rsy.3_RNA|THADA_uc010fas.1_RNA|THADA_uc002rsz.2_Missense_Mutation_p.L330F|THADA_uc010fat.1_5'Flank|THADA_uc002rta.2_Missense_Mutation_p.L330F|THADA_uc002rtb.1_Missense_Mutation_p.L620F|THADA_uc002rtc.3_Missense_Mutation_p.L620F|THADA_uc002rtd.2_Missense_Mutation_p.L620F NM_001083953 NP_001077422 Q6YHU6 THADA_HUMAN thyroid adenoma associated 620 binding ovary(2)|skin(1) 3 Acute lymphoblastic leukemia(82;0.00361)|all_hematologic(82;0.00837) TCAGACACGAGGTTCTCCCAG 0.443000 SPTBN1 6711 broad.mit.edu 37 2 54851961 54851961 + Missense_Mutation SNP A A C TCGA-BR-8286-01A-12D-2340-08 TCGA-BR-8286-10A-01D-2340-08 Untested Somatic Phase_I WXS none Illumina GAIIx e0d70de9-86fb-406d-8959-9089f3a44127 8fb6969d-2604-44c5-88ff-6fdd69c9a472 g.chr2:54851961A>C uc002rxu.2 + 11 1452 c.1203A>C c.(1201-1203)AAA>AAC p.K401N SPTBN1_uc002rxv.1_Missense_Mutation_p.K401N|SPTBN1_uc002rxx.2_Missense_Mutation_p.K388N NM_003128 NP_003119 Q01082 SPTB2_HUMAN spectrin, beta, non-erythrocytic 1 isoform 1 401 Spectrin 2. actin filament capping|axon guidance cytosol|nucleolus|plasma membrane|sarcomere|spectrin actin binding|calmodulin binding|protein binding|structural constituent of cytoskeleton ovary(3)|breast(2)|central_nervous_system(2)|skin(1) 8 Lung(47;0.24) GACTGGAAAAAGCGGAACACG 0.473000 ETAA1 54465 broad.mit.edu 37 2 67632028 67632028 + Missense_Mutation SNP G G T TCGA-BR-8286-01A-12D-2340-08 TCGA-BR-8286-10A-01D-2340-08 Untested Somatic Phase_I WXS none Illumina GAIIx e0d70de9-86fb-406d-8959-9089f3a44127 8fb6969d-2604-44c5-88ff-6fdd69c9a472 g.chr2:67632028G>T uc002sdz.1 + 5 2353 c.2214G>T c.(2212-2214)ATG>ATT p.M738I NM_019002 NP_061875 Q9NY74 ETAA1_HUMAN ETAA16 protein 738 cytoplasm|nucleus ovary(3)|large_intestine(1) 4 ATTTGACTATGTATTCTAAGA 0.343000 INPP4A 3631 broad.mit.edu 37 2 99182628 99182628 + Nonsense_Mutation SNP G G T TCGA-BR-8286-01A-12D-2340-08 TCGA-BR-8286-10A-01D-2340-08 Untested Somatic Phase_I WXS none Illumina GAIIx e0d70de9-86fb-406d-8959-9089f3a44127 8fb6969d-2604-44c5-88ff-6fdd69c9a472 g.chr2:99182628G>T uc002syy.2 + 22 2824 c.2431G>T c.(2431-2433)GAG>TAG p.E811* INPP4A_uc010yvj.1_Nonsense_Mutation_p.E772*|INPP4A_uc010yvk.1_Nonsense_Mutation_p.E772*|INPP4A_uc002syx.2_Nonsense_Mutation_p.E806*|INPP4A_uc010fik.2_Nonsense_Mutation_p.E140* NM_001134224 NP_001127696 Q96PE3 INP4A_HUMAN inositol polyphosphate-4-phosphatase, type 1 811 signal transduction phosphatidylinositol-3,4-bisphosphate 4-phosphatase activity|phosphatidylinositol-4,5-bisphosphate 4-phosphatase activity kidney(1) 1 GACACTGGCCGAGAGGTGCGT 0.622000 TTN 7273 broad.mit.edu 37 2 179452836 179452836 + Missense_Mutation SNP C C T TCGA-BR-8286-01A-12D-2340-08 TCGA-BR-8286-10A-01D-2340-08 Untested Somatic Phase_I WXS none Illumina GAIIx e0d70de9-86fb-406d-8959-9089f3a44127 8fb6969d-2604-44c5-88ff-6fdd69c9a472 g.chr2:179452836C>T uc010zfg.1 - 254 55818 c.55594G>A c.(55594-55596)GTT>ATT p.V18532I uc002umo.2_Intron|uc002ump.1_Intron|TTN_uc010zfh.1_Missense_Mutation_p.V12227I|TTN_uc010zfi.1_Missense_Mutation_p.V12160I|TTN_uc010zfj.1_Missense_Mutation_p.V12035I NM_133378 NP_596869 Q8WZ42 TITIN_HUMAN titin isoform N2-A 19459 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) ATTTCCACAACATATCCAATG 0.453000 TTN 7273 broad.mit.edu 37 2 179604777 179604777 + Silent SNP G G A TCGA-BR-8286-01A-12D-2340-08 TCGA-BR-8286-10A-01D-2340-08 Untested Somatic Phase_I WXS none Illumina GAIIx e0d70de9-86fb-406d-8959-9089f3a44127 8fb6969d-2604-44c5-88ff-6fdd69c9a472 g.chr2:179604777G>A uc010zfh.1 - 46 12894 c.12670C>T c.(12670-12672)CTG>TTG p.L4224L TTN_uc010zfg.1_Intron|TTN_uc010zfi.1_Silent_p.L4157L|TTN_uc010zfj.1_Silent_p.L4032L|TTN_uc002umz.1_Intron NM_133437 NP_597681 Q8WZ42 TITIN_HUMAN titin isoform novex-2 4152 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) TGAATTTTCAGGTTTAATCTC 0.483000 ZNF804A 91752 broad.mit.edu 37 2 185801900 185801900 + Missense_Mutation SNP A A T rs113810390 TCGA-BR-8286-01A-12D-2340-08 TCGA-BR-8286-10A-01D-2340-08 Untested Somatic Phase_I WXS none Illumina GAIIx e0d70de9-86fb-406d-8959-9089f3a44127 8fb6969d-2604-44c5-88ff-6fdd69c9a472 g.chr2:185801900A>T uc002uph.2 + 4 2371 c.1777A>T c.(1777-1779)AGT>TGT p.S593C NM_194250 NP_919226 Q7Z570 Z804A_HUMAN zinc finger protein 804A 593 intracellular zinc ion binding ovary(6)|skin(3)|large_intestine(1)|pancreas(1) 11 GTTCCATAAAAGTAGAAGAAA 0.303000 ABCA12 26154 broad.mit.edu 37 2 215812220 215812220 + Missense_Mutation SNP T T A TCGA-BR-8286-01A-12D-2340-08 TCGA-BR-8286-10A-01D-2340-08 Untested Somatic Phase_I WXS none Illumina GAIIx e0d70de9-86fb-406d-8959-9089f3a44127 8fb6969d-2604-44c5-88ff-6fdd69c9a472 g.chr2:215812220T>A uc002vew.2 - 48 7385 c.7165A>T c.(7165-7167)ATG>TTG p.M2389L ABCA12_uc002vev.2_Missense_Mutation_p.M2071L|ABCA12_uc010zjn.1_Missense_Mutation_p.M1316L NM_173076 NP_775099 Q86UK0 ABCAC_HUMAN ATP-binding cassette, sub-family A, member 12 2389 ABC transporter 2. cellular homeostasis|lipid transport integral to membrane ATP binding|ATPase activity ovary(6)|upper_aerodigestive_tract(1)|central_nervous_system(1)|breast(1)|skin(1)|pancreas(1) 11 Renal(323;0.127) Epithelial(149;1.01e-05)|all cancers(144;0.00112)|LUSC - Lung squamous cell carcinoma(224;0.00829)|Lung(261;0.011) TAACTGCACATAGAGGTAGCT 0.433000 PTPRN 5798 broad.mit.edu 37 2 220164507 220164507 + Missense_Mutation SNP G G A TCGA-BR-8286-01A-12D-2340-08 TCGA-BR-8286-10A-01D-2340-08 Untested Somatic Phase_I WXS none Illumina GAIIx e0d70de9-86fb-406d-8959-9089f3a44127 8fb6969d-2604-44c5-88ff-6fdd69c9a472 g.chr2:220164507G>A uc002vkz.2 - 10 1527 c.1438C>T c.(1438-1440)CCC>TCC p.P480S PTPRN_uc010zlc.1_Missense_Mutation_p.P390S|PTPRN_uc002vla.2_Intron NM_002846 NP_002837 Q16849 PTPRN_HUMAN protein tyrosine phosphatase, receptor type, N 480 Extracellular (Potential). response to reactive oxygen species integral to plasma membrane transmembrane receptor protein tyrosine phosphatase activity ovary(2)|lung(1)|skin(1) 4 Renal(207;0.0474) Epithelial(149;4.22e-07)|all cancers(144;8.82e-05)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942)|STAD - Stomach adenocarcinoma(1183;0.0875) AGGCTCAGGGGCCTGGAGATG 0.572000 KIF1A 547 broad.mit.edu 37 2 241726728 241726728 + Silent SNP G G A TCGA-BR-8286-01A-12D-2340-08 TCGA-BR-8286-10A-01D-2340-08 Untested Somatic Phase_I WXS none Illumina GAIIx e0d70de9-86fb-406d-8959-9089f3a44127 8fb6969d-2604-44c5-88ff-6fdd69c9a472 g.chr2:241726728G>A uc002vzy.2 - 5 515 c.369C>T c.(367-369)TGC>TGT p.C123C KIF1A_uc010fzk.2_Silent_p.C123C|KIF1A_uc002vzz.1_Silent_p.C123C NM_004321 NP_004312 Q12756 KIF1A_HUMAN axonal transport of synaptic vesicles 123 Kinesin-motor. anterograde axon cargo transport cytoplasm|microtubule|nucleus ATP binding|microtubule motor activity lung(1) 1 all_epithelial(40;1.35e-15)|Breast(86;2.14e-05)|Renal(207;0.00183)|Ovarian(221;0.0228)|all_lung(227;0.0295)|all_neural(83;0.0459)|Lung NSC(271;0.0942)|all_hematologic(139;0.158)|Melanoma(123;0.16)|Hepatocellular(293;0.244) Epithelial(32;6.12e-30)|all cancers(36;3.46e-27)|OV - Ovarian serous cystadenocarcinoma(60;1.38e-14)|Kidney(56;5e-09)|KIRC - Kidney renal clear cell carcinoma(57;5e-08)|BRCA - Breast invasive adenocarcinoma(100;5.87e-06)|Lung(119;0.00209)|LUSC - Lung squamous cell carcinoma(224;0.00902)|Colorectal(34;0.0282)|COAD - Colon adenocarcinoma(134;0.176) AGAGGTCCTCGCAGAGCTGCA 0.667000 ADARB1 104 broad.mit.edu 37 21 46602630 46602630 + Missense_Mutation SNP G G T TCGA-BR-8286-01A-12D-2340-08 TCGA-BR-8286-10A-01D-2340-08 Untested Somatic Phase_I WXS none Illumina GAIIx e0d70de9-86fb-406d-8959-9089f3a44127 8fb6969d-2604-44c5-88ff-6fdd69c9a472 g.chr21:46602630G>T uc002zgy.2 + 6 1644 c.1209G>T c.(1207-1209)TTG>TTT p.L403F ADARB1_uc002zgr.2_Missense_Mutation_p.L403F|ADARB1_uc002zgs.2_RNA|ADARB1_uc002zgw.2_Missense_Mutation_p.L403F|ADARB1_uc002zgv.2_RNA|ADARB1_uc002zgt.2_Missense_Mutation_p.L403F|ADARB1_uc010gpx.2_RNA|ADARB1_uc002zgq.2_RNA|ADARB1_uc002zgu.2_RNA NM_015833 NP_056648 P78563 RED1_HUMAN RNA-specific adenosine deaminase B1 isoform 2 403 A to I editase. adenosine to inosine editing|mRNA modification|mRNA processing|RNA processing nucleoplasm|nucleus double-stranded RNA adenosine deaminase activity|double-stranded RNA adenosine deaminase activity|double-stranded RNA binding|double-stranded RNA binding|metal ion binding|mRNA binding|RNA binding skin(1) 1 Colorectal(79;0.115) GGAGATCCTTGCTCAGATTTC 0.328000 CLTCL1 8218 broad.mit.edu 37 22 19207439 19207439 + Silent SNP G G A TCGA-BR-8286-01A-12D-2340-08 TCGA-BR-8286-10A-01D-2340-08 Untested Somatic Phase_I WXS none Illumina GAIIx e0d70de9-86fb-406d-8959-9089f3a44127 8fb6969d-2604-44c5-88ff-6fdd69c9a472 g.chr22:19207439G>A uc002zpb.2 - 18 2949 c.2874C>T c.(2872-2874)CAC>CAT p.H958H CLTCL1_uc011agv.1_Silent_p.H958H|CLTCL1_uc011agw.1_Silent_p.H958H NM_007098 NP_009029 P53675 CLH2_HUMAN clathrin, heavy polypeptide-like 1 isoform 1 958 Proximal segment.|Heavy chain arm. anatomical structure morphogenesis|intracellular protein transport|mitosis|positive regulation of glucose import|receptor-mediated endocytosis clathrin coat of coated pit|clathrin coat of trans-Golgi network vesicle|spindle|trans-Golgi network protein binding|signal transducer activity|structural molecule activity ovary(4)|central_nervous_system(1) 5 Colorectal(54;0.0993) CCTCAAGGACGTGAGCCCAGA 0.522000 T ? ALCL SEC14L4 284904 broad.mit.edu 37 22 30886231 30886231 + Missense_Mutation SNP C C A TCGA-BR-8286-01A-12D-2340-08 TCGA-BR-8286-10A-01D-2340-08 Untested Somatic Phase_I WXS none Illumina GAIIx e0d70de9-86fb-406d-8959-9089f3a44127 8fb6969d-2604-44c5-88ff-6fdd69c9a472 g.chr22:30886231C>A uc003aid.2 - 12 1184 c.1084G>T c.(1084-1086)GTC>TTC p.V362F SEC14L4_uc011akz.1_Intron|SEC14L4_uc003aie.2_Missense_Mutation_p.V347F|SEC14L4_uc003aif.2_Missense_Mutation_p.M322I NM_174977 NP_777637 Q9UDX3 S14L4_HUMAN SEC14p-like protein TAP3 isoform a 362 GOLD. integral to membrane|intracellular lipid binding|transporter activity skin(1) 1 Vitamin E(DB00163) AAGCGCAGGACATCTGCAGTG 0.587000 TMEM184B 25829 broad.mit.edu 37 22 38620889 38620889 + Silent SNP C C T TCGA-BR-8286-01A-12D-2340-08 TCGA-BR-8286-10A-01D-2340-08 Untested Somatic Phase_I WXS none Illumina GAIIx e0d70de9-86fb-406d-8959-9089f3a44127 8fb6969d-2604-44c5-88ff-6fdd69c9a472 g.chr22:38620889C>T uc003avf.1 - 8 1109 c.885G>A c.(883-885)CAG>CAA p.Q295Q TMEM184B_uc003avg.1_Silent_p.Q295Q|TMEM184B_uc003avh.1_Silent_p.Q229Q NM_012264 NP_036396 Q9Y519 T184B_HUMAN transmembrane protein 184B 295 Helical; (Potential). integral to membrane 0 Melanoma(58;0.045) TGATGAAGTCCTGGTAGCCGG 0.617000 PKDREJ 10343 broad.mit.edu 37 22 46656654 46656654 + Missense_Mutation SNP T T C TCGA-BR-8286-01A-12D-2340-08 TCGA-BR-8286-10A-01D-2340-08 Untested Somatic Phase_I WXS none Illumina GAIIx e0d70de9-86fb-406d-8959-9089f3a44127 8fb6969d-2604-44c5-88ff-6fdd69c9a472 g.chr22:46656654T>C uc003bhh.2 - 1 2566 c.2566A>G c.(2566-2568)ACC>GCC p.T856A NM_006071 NP_006062 Q9NTG1 PKDRE_HUMAN receptor for egg jelly-like protein precursor 856 Extracellular (Potential).|REJ. acrosome reaction|neuropeptide signaling pathway integral to membrane calcium ion binding|ion channel activity breast(3)|ovary(2) 5 Ovarian(80;0.00965)|all_neural(38;0.0416) UCEC - Uterine corpus endometrioid carcinoma (28;0.00459) AAATTGGGGGTTCTCATTGAG 0.378000 TMEM111 55831 broad.mit.edu 37 3 10018730 10018730 + Missense_Mutation SNP A A G TCGA-BR-8286-01A-12D-2340-08 TCGA-BR-8286-10A-01D-2340-08 Untested Somatic Phase_I WXS none Illumina GAIIx e0d70de9-86fb-406d-8959-9089f3a44127 8fb6969d-2604-44c5-88ff-6fdd69c9a472 g.chr3:10018730A>G uc003bun.2 - 3 397 c.218T>C c.(217-219)TTC>TCC p.F73S CIDEC_uc003bto.2_Intron|TMEM111_uc003buo.2_Missense_Mutation_p.F73S NM_018447 NP_060917 Q9P0I2 TM111_HUMAN transmembrane protein 111 73 integral to membrane 0 TCGTGTCAAGAAAGACTAGTA 0.353000 VILL 50853 broad.mit.edu 37 3 38047335 38047335 + Nonsense_Mutation SNP G G A TCGA-BR-8286-01A-12D-2340-08 TCGA-BR-8286-10A-01D-2340-08 Untested Somatic Phase_I WXS none Illumina GAIIx e0d70de9-86fb-406d-8959-9089f3a44127 8fb6969d-2604-44c5-88ff-6fdd69c9a472 g.chr3:38047335G>A uc003chj.2 + 17 2289 c.2003G>A c.(2002-2004)TGG>TAG p.W668* VILL_uc003chl.2_Nonsense_Mutation_p.W668* NM_015873 NP_056957 O15195 VILL_HUMAN villin-like protein 668 actin filament capping|cytoskeleton organization actin cytoskeleton actin binding|structural constituent of cytoskeleton 0 KIRC - Kidney renal clear cell carcinoma(284;0.0525)|Kidney(284;0.0661) GCGGTGGCCTGGGGCCAGGAG 0.647000 SCN11A 11280 broad.mit.edu 37 3 38888324 38888324 + Missense_Mutation SNP T T G TCGA-BR-8286-01A-12D-2340-08 TCGA-BR-8286-10A-01D-2340-08 Untested Somatic Phase_I WXS none Illumina GAIIx e0d70de9-86fb-406d-8959-9089f3a44127 8fb6969d-2604-44c5-88ff-6fdd69c9a472 g.chr3:38888324T>G uc011ays.1 - 26 5436 c.5237A>C c.(5236-5238)AAG>ACG p.K1746T NM_014139 NP_054858 Q9UI33 SCNBA_HUMAN sodium channel, voltage-gated, type XI, alpha 1746 response to drug voltage-gated sodium channel complex voltage-gated sodium channel activity skin(6)|ovary(1)|haematopoietic_and_lymphoid_tissue(1)|pancreas(1) 9 Kidney(284;0.00202)|KIRC - Kidney renal clear cell carcinoma(284;0.00226) Cocaine(DB00907) CATCATGTACTTTCGAAAGGC 0.378000 PRSS45 377047 broad.mit.edu 37 3 46784042 46784042 + Missense_Mutation SNP A A C TCGA-BR-8286-01A-12D-2340-08 TCGA-BR-8286-10A-01D-2340-08 Untested Somatic Phase_I WXS none Illumina GAIIx e0d70de9-86fb-406d-8959-9089f3a44127 8fb6969d-2604-44c5-88ff-6fdd69c9a472 g.chr3:46784042A>C uc010hjl.2 - 4 485 c.485T>G c.(484-486)GTT>GGT p.V162G PRSS45_uc011bam.1_RNA NM_199183 NP_954652 Q7RTY3 PRS45_HUMAN testis serine protease 5 194 Peptidase S1. proteolysis serine-type endopeptidase activity 0 TCTGCCCTCAACTTCACAAGC 0.572000 DALRD3 55152 broad.mit.edu 37 3 49055175 49055175 + Missense_Mutation SNP C C T TCGA-BR-8286-01A-12D-2340-08 TCGA-BR-8286-10A-01D-2340-08 Untested Somatic Phase_I WXS none Illumina GAIIx e0d70de9-86fb-406d-8959-9089f3a44127 8fb6969d-2604-44c5-88ff-6fdd69c9a472 g.chr3:49055175C>T uc003cvk.1 - 3 609 c.589G>A c.(589-591)GAA>AAA p.E197K DALRD3_uc003cvl.1_Missense_Mutation_p.E197K|DALRD3_uc003cvm.1_Missense_Mutation_p.E30K|DALRD3_uc010hko.1_Missense_Mutation_p.E30K|DALRD3_uc011bca.1_Missense_Mutation_p.E197K|NDUFAF3_uc003cvn.2_5'Flank NM_001009996 NP_001009996 Q5D0E6 DALD3_HUMAN DALR anticodon binding domain containing 3 197 arginyl-tRNA aminoacylation cytoplasm arginine-tRNA ligase activity|ATP binding 0 BRCA - Breast invasive adenocarcinoma(193;8.01e-05)|Kidney(197;0.00218)|KIRC - Kidney renal clear cell carcinoma(197;0.00244) GTAAGTTCTTCAAGGGCGTGG 0.622000 CACNA1D 776 broad.mit.edu 37 3 53835248 53835248 + Missense_Mutation SNP C C T TCGA-BR-8286-01A-12D-2340-08 TCGA-BR-8286-10A-01D-2340-08 Untested Somatic Phase_I WXS none Illumina GAIIx e0d70de9-86fb-406d-8959-9089f3a44127 8fb6969d-2604-44c5-88ff-6fdd69c9a472 g.chr3:53835248C>T uc003dgv.3 + 42 5367 c.5204C>T c.(5203-5205)TCG>TTG p.S1735L CACNA1D_uc003dgu.3_Missense_Mutation_p.S1755L|CACNA1D_uc003dgy.3_Missense_Mutation_p.S1720L|CACNA1D_uc003dgw.3_Missense_Mutation_p.S1402L|CACNA1D_uc011bes.1_RNA NM_001128840 NP_001122312 Q01668 CAC1D_HUMAN calcium channel, voltage-dependent, L type, 1735 Cytoplasmic (Potential). axon guidance|energy reserve metabolic process|regulation of insulin secretion voltage-gated calcium channel complex voltage-gated calcium channel activity ovary(6)|upper_aerodigestive_tract(2)|liver(1)|central_nervous_system(1)|skin(1) 11 BRCA - Breast invasive adenocarcinoma(193;0.00029)|KIRC - Kidney renal clear cell carcinoma(284;0.0145)|Kidney(284;0.0175)|OV - Ovarian serous cystadenocarcinoma(275;0.0613) Verapamil(DB00661) GCAGGAAATTCGGTGTGTCAT 0.468000 ARL13B 200894 broad.mit.edu 37 3 93768349 93768349 + Missense_Mutation SNP C C T TCGA-BR-8286-01A-12D-2340-08 TCGA-BR-8286-10A-01D-2340-08 Untested Somatic Phase_I WXS none Illumina GAIIx e0d70de9-86fb-406d-8959-9089f3a44127 8fb6969d-2604-44c5-88ff-6fdd69c9a472 g.chr3:93768349C>T uc003drc.2 + 8 1410 c.1124C>T c.(1123-1125)CCC>CTC p.P375L ARL13B_uc010hop.2_Missense_Mutation_p.P226L|ARL13B_uc003drd.2_Missense_Mutation_p.P268L|ARL13B_uc003dre.2_Missense_Mutation_p.P360L|ARL13B_uc003drf.2_Missense_Mutation_p.P375L|ARL13B_uc003drg.2_Missense_Mutation_p.P272L NM_182896 NP_878899 Q3SXY8 AR13B_HUMAN ADP-ribosylation factor-like 2-like 1 isoform 1 375 Pro-rich. GTP binding 0 CCAACGCCACCCCCACCCCCT 0.378000 OR5H14 403273 broad.mit.edu 37 3 97868965 97868965 + Silent SNP T T C TCGA-BR-8286-01A-12D-2340-08 TCGA-BR-8286-10A-01D-2340-08 Untested Somatic Phase_I WXS none Illumina GAIIx e0d70de9-86fb-406d-8959-9089f3a44127 8fb6969d-2604-44c5-88ff-6fdd69c9a472 g.chr3:97868965T>C uc003dsg.1 + 1 736 c.736T>C c.(736-738)TTA>CTA p.L246L NM_001005514 NP_001005514 A6NHG9 O5H14_HUMAN olfactory receptor, family 5, subfamily H, 246 Helical; Name=6; (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity skin(1) 1 AGCTCATCTCTTATCTGTATC 0.413000 IMPG2 50939 broad.mit.edu 37 3 100951812 100951812 + Missense_Mutation SNP A A T TCGA-BR-8286-01A-12D-2340-08 TCGA-BR-8286-10A-01D-2340-08 Untested Somatic Phase_I WXS none Illumina GAIIx e0d70de9-86fb-406d-8959-9089f3a44127 8fb6969d-2604-44c5-88ff-6fdd69c9a472 g.chr3:100951812A>T uc003duq.1 - 15 3249 c.3046T>A c.(3046-3048)TTT>ATT p.F1016I IMPG2_uc011bhe.1_Missense_Mutation_p.F879I|IMPG2_uc010hpj.1_RNA NM_016247 NP_057331 Q9BZV3 IMPG2_HUMAN interphotoreceptor matrix proteoglycan 2 1016 Extracellular (Potential).|EGF-like 1. visual perception integral to membrane|proteinaceous extracellular matrix extracellular matrix structural constituent|heparin binding|hyaluronic acid binding|receptor activity ovary(2)|haematopoietic_and_lymphoid_tissue(1) 3 CAGGCCTGAAACTTGCAAGGG 0.438000 BBX 56987 broad.mit.edu 37 3 107492475 107492475 + Missense_Mutation SNP T T C TCGA-BR-8286-01A-12D-2340-08 TCGA-BR-8286-10A-01D-2340-08 Untested Somatic Phase_I WXS none Illumina GAIIx e0d70de9-86fb-406d-8959-9089f3a44127 8fb6969d-2604-44c5-88ff-6fdd69c9a472 g.chr3:107492475T>C uc010hpr.2 + 11 2234 c.1907T>C c.(1906-1908)GTT>GCT p.V636A BBX_uc003dwk.3_Missense_Mutation_p.V636A|BBX_uc003dwl.3_Intron|BBX_uc010hps.1_Missense_Mutation_p.V657A|BBX_uc003dwm.3_Missense_Mutation_p.V636A|BBX_uc003dwo.3_5'Flank NM_001142568 NP_001136040 Q8WY36 BBX_HUMAN HMG-BOX transcription factor BBX isoform 1 636 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding ovary(3)|skin(1) 4 OV - Ovarian serous cystadenocarcinoma(3;0.112) CGAGCTAATGTTGACAGAGGT 0.393000 ALDH1L1 10840 broad.mit.edu 37 3 125879818 125879818 + Missense_Mutation SNP T T G TCGA-BR-8286-01A-12D-2340-08 TCGA-BR-8286-10A-01D-2340-08 Untested Somatic Phase_I WXS none Illumina GAIIx e0d70de9-86fb-406d-8959-9089f3a44127 8fb6969d-2604-44c5-88ff-6fdd69c9a472 g.chr3:125879818T>G uc003eim.1 - 2 195 c.5A>C c.(4-6)AAG>ACG p.K2T ALDH1L1_uc010hse.1_RNA|ALDH1L1_uc011bki.1_Missense_Mutation_p.K2T|ALDH1L1_uc010hsf.1_5'UTR|ALDH1L1_uc003eip.1_5'Flank|ALDH1L1_uc011bkj.1_5'UTR NM_012190 NP_036322 O75891 AL1L1_HUMAN aldehyde dehydrogenase 1 family, member L1 2 GART. 10-formyltetrahydrofolate catabolic process|biosynthetic process acyl carrier activity|cofactor binding|formyltetrahydrofolate dehydrogenase activity|hydroxymethyl-, formyl- and related transferase activity|methyltransferase activity large_intestine(1)|ovary(1)|central_nervous_system(1)|skin(1) 4 GBM - Glioblastoma multiforme(114;0.0462) Tetrahydrofolic acid(DB00116) CACTGCAATCTTCATGGTAGC 0.532000 STAG1 10274 broad.mit.edu 37 3 136057238 136057238 + Missense_Mutation SNP A A G TCGA-BR-8286-01A-12D-2340-08 TCGA-BR-8286-10A-01D-2340-08 Untested Somatic Phase_I WXS none Illumina GAIIx e0d70de9-86fb-406d-8959-9089f3a44127 8fb6969d-2604-44c5-88ff-6fdd69c9a472 g.chr3:136057238A>G uc003era.1 - 33 4019 c.3727T>C c.(3727-3729)TCT>CCT p.S1243P STAG1_uc003erb.1_Missense_Mutation_p.S1206P NM_005862 NP_005853 Q8WVM7 STAG1_HUMAN stromal antigen 1 1243 cell division|chromosome segregation|mitotic metaphase/anaphase transition|mitotic prometaphase cell junction|chromatin|chromosome, centromeric region|nucleoplasm protein binding ovary(2) 2 ATAGCTGCAGAGTCAAAGAAG 0.358000 PRR23B 389151 broad.mit.edu 37 3 138739227 138739227 + Missense_Mutation SNP C C T TCGA-BR-8286-01A-12D-2340-08 TCGA-BR-8286-10A-01D-2340-08 Untested Somatic Phase_I WXS none Illumina GAIIx e0d70de9-86fb-406d-8959-9089f3a44127 8fb6969d-2604-44c5-88ff-6fdd69c9a472 g.chr3:138739227C>T uc003esy.1 - 1 542 c.277G>A c.(277-279)GGT>AGT p.G93S NM_001013650 NP_001013672 Q6ZRT6 PR23B_HUMAN proline rich 23B 93 breast(1) 1 GTGTGTCCACCGAGAGACACT 0.662000 IGSF10 285313 broad.mit.edu 37 3 151163065 151163065 + Silent SNP A A G TCGA-BR-8286-01A-12D-2340-08 TCGA-BR-8286-10A-01D-2340-08 Untested Somatic Phase_I WXS none Illumina GAIIx e0d70de9-86fb-406d-8959-9089f3a44127 8fb6969d-2604-44c5-88ff-6fdd69c9a472 g.chr3:151163065A>G uc011bod.1 - 4 4704 c.4704T>C c.(4702-4704)TCT>TCC p.S1568S NM_178822 NP_849144 Q6WRI0 IGS10_HUMAN immunoglobulin superfamily, member 10 precursor 1568 cell differentiation|multicellular organismal development|ossification extracellular region skin(7)|ovary(5)|central_nervous_system(1) 13 LUSC - Lung squamous cell carcinoma(72;0.0394)|Lung(72;0.0517) CTGCCCAGGGAGATGGAGTTA 0.413000 RBM47 54502 broad.mit.edu 37 4 40438548 40438548 + Missense_Mutation SNP C C A TCGA-BR-8286-01A-12D-2340-08 TCGA-BR-8286-10A-01D-2340-08 Untested Somatic Phase_I WXS none Illumina GAIIx e0d70de9-86fb-406d-8959-9089f3a44127 8fb6969d-2604-44c5-88ff-6fdd69c9a472 g.chr4:40438548C>A uc003gvc.2 - 5 1950 c.1240G>T c.(1240-1242)GGG>TGG p.G414W RBM47_uc003gvd.2_Intron|RBM47_uc003gve.2_RNA|RBM47_uc011bys.1_Missense_Mutation_p.G376W NM_001098634 NP_001092104 A0AV96 RBM47_HUMAN RNA binding motif protein 47 isoform a 414 nucleus nucleotide binding|RNA binding breast(3) 3 TTTCCTTTCCCTTCATGATAT 0.517000 DNAH5 1767 broad.mit.edu 37 5 13717530 13717530 + Missense_Mutation SNP T T G TCGA-BR-8286-01A-12D-2340-08 TCGA-BR-8286-10A-01D-2340-08 Untested Somatic Phase_I WXS none Illumina GAIIx e0d70de9-86fb-406d-8959-9089f3a44127 8fb6969d-2604-44c5-88ff-6fdd69c9a472 g.chr5:13717530T>G uc003jfd.2 - 73 12641 c.12599A>C c.(12598-12600)AAG>ACG p.K4200T DNAH5_uc003jfc.2_Missense_Mutation_p.K368T NM_001369 NP_001360 Q8TE73 DYH5_HUMAN dynein, axonemal, heavy chain 5 4200 AAA 6 (By similarity). microtubule-based movement cilium axoneme|cytoplasm|microtubule ATP binding|ATPase activity|microtubule motor activity p.K4200T(1) ovary(14)|skin(13)|upper_aerodigestive_tract(1)|central_nervous_system(1)|breast(1)|pancreas(1) 31 Lung NSC(4;0.00476) GGCACCGAACTTGCGCCTCTC 0.552000 Kartagener_syndrome DNAH5 1767 broad.mit.edu 37 5 13824440 13824440 + Silent SNP A A C TCGA-BR-8286-01A-12D-2340-08 TCGA-BR-8286-10A-01D-2340-08 Untested Somatic Phase_I WXS none Illumina GAIIx e0d70de9-86fb-406d-8959-9089f3a44127 8fb6969d-2604-44c5-88ff-6fdd69c9a472 g.chr5:13824440A>C uc003jfd.2 - 39 6489 c.6447T>G c.(6445-6447)GTT>GTG p.V2149V NM_001369 NP_001360 Q8TE73 DYH5_HUMAN dynein, axonemal, heavy chain 5 2149 AAA 1 (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) AGTCATAATGAACCTAGAGAA 0.383000 Kartagener_syndrome CDH12 1010 broad.mit.edu 37 5 21751873 21751873 + Silent SNP C C T TCGA-BR-8286-01A-12D-2340-08 TCGA-BR-8286-10A-01D-2340-08 Untested Somatic Phase_I WXS none Illumina GAIIx e0d70de9-86fb-406d-8959-9089f3a44127 8fb6969d-2604-44c5-88ff-6fdd69c9a472 g.chr5:21751873C>T uc010iuc.2 - 12 2816 c.2358G>A c.(2356-2358)GAG>GAA p.E786E CDH12_uc011cno.1_Silent_p.E746E|CDH12_uc003jgk.2_Silent_p.E786E|uc003jgj.2_Intron NM_004061 NP_004052 P55289 CAD12_HUMAN cadherin 12, type 2 preproprotein 786 Cytoplasmic (Potential). adherens junction organization|cell junction assembly|homophilic cell adhesion integral to membrane|plasma membrane calcium ion binding ovary(2) 2 GGTTATAACTCTCTTCTTCGC 0.418000 HNSCC(59;0.17) CDH6 1004 broad.mit.edu 37 5 31313471 31313471 + Missense_Mutation SNP G G A TCGA-BR-8286-01A-12D-2340-08 TCGA-BR-8286-10A-01D-2340-08 Untested Somatic Phase_I WXS none Illumina GAIIx e0d70de9-86fb-406d-8959-9089f3a44127 8fb6969d-2604-44c5-88ff-6fdd69c9a472 g.chr5:31313471G>A uc003jhe.1 + 8 1626 c.1300G>A c.(1300-1302)GAT>AAT p.D434N CDH6_uc003jhd.1_Missense_Mutation_p.D434N NM_004932 NP_004923 P55285 CADH6_HUMAN cadherin 6, type 2 preproprotein 434 Extracellular (Potential).|Cadherin 4. adherens junction organization|cell junction assembly|homophilic cell adhesion cytoplasm|integral to membrane|nucleus|plasma membrane calcium ion binding ovary(4)|skin(2)|large_intestine(1) 7 ATTCAACATTGATTCTGGAAA 0.373000 GPR150 285601 broad.mit.edu 37 5 94956706 94956706 + Missense_Mutation SNP G G A TCGA-BR-8286-01A-12D-2340-08 TCGA-BR-8286-10A-01D-2340-08 Untested Somatic Phase_I WXS none Illumina GAIIx e0d70de9-86fb-406d-8959-9089f3a44127 8fb6969d-2604-44c5-88ff-6fdd69c9a472 g.chr5:94956706G>A uc003kle.1 + 1 727 c.727G>A c.(727-729)GCG>ACG p.A243T NM_199243 NP_954713 Q8NGU9 GP150_HUMAN G protein-coupled receptor 150 243 Helical; Name=5; (Potential). integral to membrane|plasma membrane G-protein coupled receptor activity 0 all_cancers(142;0.000462)|all_epithelial(76;2.44e-06)|all_lung(232;0.0318)|Lung NSC(167;0.041)|Ovarian(225;0.051) all cancers(79;1.82e-16) GGGCTTCGTCGCGCCTGTTAC 0.687000 SRP19 6728 broad.mit.edu 37 5 112228594 112228594 + Missense_Mutation SNP C C T TCGA-BR-8286-01A-12D-2340-08 TCGA-BR-8286-10A-01D-2340-08 Untested Somatic Phase_I WXS none Illumina GAIIx e0d70de9-86fb-406d-8959-9089f3a44127 8fb6969d-2604-44c5-88ff-6fdd69c9a472 g.chr5:112228594C>T uc011cvv.1 + 4 1588 c.1333C>T c.(1333-1335)CGG>TGG p.R445W SRP19_uc011cvu.1_Missense_Mutation_p.R430W|REEP5_uc011cvw.1_Intron|REEP5_uc003kqe.1_Intron|REEP5_uc011cvx.1_Intron|REEP5_uc011cvy.1_Intron|REEP5_uc011cvz.1_Intron P09132 SRP19_HUMAN SubName: Full=Zinc finger (CCCH type), RNA-binding motif and serine/arginine rich 2; Error:Variant_position_missing_in_P09132_after_alignment response to drug|SRP-dependent cotranslational protein targeting to membrane cytosol|mitochondrion|nucleolus|signal recognition particle, endoplasmic reticulum targeting 7S RNA binding 0 all_cancers(142;0.00328)|all_epithelial(76;6.39e-05)|Prostate(80;0.00174)|Colorectal(10;0.00372)|Ovarian(225;0.156) Epithelial(69;1.7e-09)|OV - Ovarian serous cystadenocarcinoma(64;1.17e-08)|all cancers(49;3.96e-07)|Colorectal(14;0.0056)|COAD - Colon adenocarcinoma(37;0.0104) ATCAAAGAGTCGGGAGAGGCA 0.552000 AQPEP 206338 broad.mit.edu 37 5 115346505 115346505 + Missense_Mutation SNP A A G TCGA-BR-8286-01A-12D-2340-08 TCGA-BR-8286-10A-01D-2340-08 Untested Somatic Phase_I WXS none Illumina GAIIx e0d70de9-86fb-406d-8959-9089f3a44127 8fb6969d-2604-44c5-88ff-6fdd69c9a472 g.chr5:115346505A>G uc003kro.2 + 14 2325 c.2161A>G c.(2161-2163)ATA>GTA p.I721V AQPEP_uc003krp.2_Intron|AQPEP_uc003krq.2_RNA|AQPEP_uc003krr.2_RNA|AQPEP_uc003krs.2_Intron NM_173800 NP_776161 Q6Q4G3 AMPQ_HUMAN laeverin 721 Lumenal (Potential). proteolysis integral to membrane metallopeptidase activity|zinc ion binding 0 AGATGAAATTATAGTATGGCA 0.313000 NRN1 51299 broad.mit.edu 37 6 5999379 5999379 + Missense_Mutation SNP C C G TCGA-BR-8286-01A-12D-2340-08 TCGA-BR-8286-10A-01D-2340-08 Untested Somatic Phase_I WXS none Illumina GAIIx e0d70de9-86fb-406d-8959-9089f3a44127 8fb6969d-2604-44c5-88ff-6fdd69c9a472 g.chr6:5999379C>G uc003mwu.2 - 3 910 c.259G>C c.(259-261)GCG>CCG p.A87P NRN1_uc003mwt.2_Missense_Mutation_p.A113P NM_016588 NP_057672 Q9NPD7 NRN1_HUMAN neuritin precursor 87 anchored to membrane|plasma membrane 0 Ovarian(93;0.0816) all_hematologic(90;0.151) OV - Ovarian serous cystadenocarcinoma(45;0.00415) ATATCTTTCGCCCCTTCCTGG 0.522000 HLA-DQA2 3118 broad.mit.edu 37 6 32714123 32714123 + Silent SNP C C A TCGA-BR-8286-01A-12D-2340-08 TCGA-BR-8286-10A-01D-2340-08 Untested Somatic Phase_I WXS none Illumina GAIIx e0d70de9-86fb-406d-8959-9089f3a44127 8fb6969d-2604-44c5-88ff-6fdd69c9a472 g.chr6:32714123C>A uc003obx.2 + 4 778 c.720C>A c.(718-720)ATC>ATA p.I240I NM_020056 NP_064440 P01906 DQA2_HUMAN major histocompatibility complex, class II, DQ 240 Helical; (Potential). antigen processing and presentation of peptide or polysaccharide antigen via MHC class II|interferon-gamma-mediated signaling pathway|T cell costimulation|T cell receptor signaling pathway endoplasmic reticulum membrane|endosome membrane|Golgi apparatus|integral to plasma membrane|lysosomal membrane|MHC class II protein complex MHC class II receptor activity 0 Insulin Glargine recombinant(DB00047)|Insulin Lyspro recombinant(DB00046)|Insulin recombinant(DB00030)|Insulin, porcine(DB00071) TCTTCATCATCCAAGGCCTGC 0.522000 HLA-DMB 3109 broad.mit.edu 37 6 32905013 32905013 + Silent SNP G G A TCGA-BR-8286-01A-12D-2340-08 TCGA-BR-8286-10A-01D-2340-08 Untested Somatic Phase_I WXS none Illumina GAIIx e0d70de9-86fb-406d-8959-9089f3a44127 8fb6969d-2604-44c5-88ff-6fdd69c9a472 g.chr6:32905013G>A uc003ocl.1 - 3 791 c.558C>T c.(556-558)TAC>TAT p.Y186Y HLA-DMB_uc003ocj.1_3'UTR|HLA-DMB_uc003ock.1_5'Flank|HLA-DMB_uc010jud.1_Silent_p.Y55Y|HLA-DMB_uc010jue.1_Silent_p.Y55Y|HLA-DMB_uc010juf.1_Silent_p.Y55Y|HLA-DMB_uc011dql.1_Silent_p.Y186Y NM_002118 NP_002109 P28068 DMB_HUMAN major histocompatibility complex, class II, DM 186 Lumenal (Potential).|Ig-like C1-type.|Beta-2. antigen processing and presentation of peptide or polysaccharide antigen via MHC class II|interferon-gamma-mediated signaling pathway|T cell costimulation|T cell receptor signaling pathway integral to membrane|late endosome membrane|lysosomal membrane|MHC class II protein complex 0 AAGTGTCCCCGTAAGAGGGGG 0.547000 ZNF292 23036 broad.mit.edu 37 6 87969804 87969804 + Missense_Mutation SNP G G A TCGA-BR-8286-01A-12D-2340-08 TCGA-BR-8286-10A-01D-2340-08 Untested Somatic Phase_I WXS none Illumina GAIIx e0d70de9-86fb-406d-8959-9089f3a44127 8fb6969d-2604-44c5-88ff-6fdd69c9a472 g.chr6:87969804G>A uc003plm.3 + 8 6498 c.6457G>A c.(6457-6459)GAA>AAA p.E2153K NM_015021 NP_055836 O60281 ZN292_HUMAN zinc finger protein 292 2153 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding ovary(4) 4 all_cancers(76;3.82e-09)|Prostate(29;1.34e-10)|Acute lymphoblastic leukemia(125;2.17e-10)|all_hematologic(105;1.08e-06)|all_epithelial(107;5.31e-05) BRCA - Breast invasive adenocarcinoma(108;0.0199) GGTCGAAGAGGAAAGTGAAGC 0.398000 C6orf174 387104 broad.mit.edu 37 6 127837556 127837556 + Silent SNP A A G TCGA-BR-8286-01A-12D-2340-08 TCGA-BR-8286-10A-01D-2340-08 Untested Somatic Phase_I WXS none Illumina GAIIx e0d70de9-86fb-406d-8959-9089f3a44127 8fb6969d-2604-44c5-88ff-6fdd69c9a472 g.chr6:127837556A>G uc003qbd.2 - 2 1069 c.204T>C c.(202-204)AAT>AAC p.N68N NM_001012279 NP_001012279 Q5TF21 CF174_HUMAN hypothetical protein LOC387104 precursor 68 integral to membrane breast(3)|ovary(2)|skin(1) 6 GBM - Glioblastoma multiforme(226;0.026)|all cancers(137;0.161) gcCGAACAGAATTGAGTTTAG 0.572000 FAM188B 84182 broad.mit.edu 37 7 30890083 30890083 + Missense_Mutation SNP T T C TCGA-BR-8286-01A-12D-2340-08 TCGA-BR-8286-10A-01D-2340-08 Untested Somatic Phase_I WXS none Illumina GAIIx e0d70de9-86fb-406d-8959-9089f3a44127 8fb6969d-2604-44c5-88ff-6fdd69c9a472 g.chr7:30890083T>C uc003tbt.2 + 10 1536 c.1459T>C c.(1459-1461)TCA>CCA p.S487P FAM188B_uc010kwe.2_Missense_Mutation_p.S458P|AQP1_uc011kac.1_5'Flank NM_032222 NP_115598 Q4G0A6 F188B_HUMAN hypothetical protein LOC84182 487 0 ACTGCAGCCTTCAGATGCCCA 0.597000 CDK13 8621 broad.mit.edu 37 7 40132389 40132389 + Missense_Mutation SNP A A G rs67805104 TCGA-BR-8286-01A-12D-2340-08 TCGA-BR-8286-10A-01D-2340-08 Untested Somatic Phase_I WXS none Illumina GAIIx e0d70de9-86fb-406d-8959-9089f3a44127 8fb6969d-2604-44c5-88ff-6fdd69c9a472 g.chr7:40132389A>G uc003thh.3 + 13 3523 c.3241A>G c.(3241-3243)ACA>GCA p.T1081A CDK13_uc003thi.3_Intron|CDK13_uc003thj.2_Missense_Mutation_p.T132A|CDK13_uc003thk.2_Missense_Mutation_p.T14A NM_003718 NP_003709 Q14004 CDK13_HUMAN cell division cycle 2-like 5 isoform 1 1081 alternative nuclear mRNA splicing, via spliceosome|hemopoiesis|interspecies interaction between organisms|phosphorylation of RNA polymerase II C-terminal domain|positive regulation of cell proliferation|regulation of mitosis nuclear cyclin-dependent protein kinase holoenzyme complex|nuclear speck ATP binding|cyclin-dependent protein kinase activity|protein binding|RNA polymerase II carboxy-terminal domain kinase activity lung(2)|skin(2)|ovary(1) 5 TTTAGTAAAAACAGGCCCTGG 0.348000 GLI3 2737 broad.mit.edu 37 7 42005605 42005605 + Silent SNP C C T TCGA-BR-8286-01A-12D-2340-08 TCGA-BR-8286-10A-01D-2340-08 Untested Somatic Phase_I WXS none Illumina GAIIx e0d70de9-86fb-406d-8959-9089f3a44127 8fb6969d-2604-44c5-88ff-6fdd69c9a472 g.chr7:42005605C>T uc011kbh.1 - 15 3157 c.3066G>A c.(3064-3066)CCG>CCA p.P1022P GLI3_uc011kbg.1_Silent_p.P963P NM_000168 NP_000159 P10071 GLI3_HUMAN GLI-Kruppel family member GLI3 1022 negative regulation of alpha-beta T cell differentiation|negative regulation of canonical Wnt receptor signaling pathway|negative regulation of smoothened signaling pathway|negative regulation of transcription from RNA polymerase II promoter|negative thymic T cell selection|positive regulation of alpha-beta T cell differentiation|positive regulation of transcription from RNA polymerase II promoter|thymocyte apoptosis cilium|cytosol|nucleolus beta-catenin binding|histone acetyltransferase binding|histone deacetylase binding|sequence-specific DNA binding transcription factor activity|zinc ion binding lung(11)|ovary(3)|large_intestine(2)|central_nervous_system(1)|kidney(1)|pancreas(1) 19 TGCTGAAGCGCGGCACACGAG 0.736000 Greig_Cephalopolysyndactyly|Pallister-Hall_syndrome GLI3 2737 broad.mit.edu 37 7 42085089 42085089 + Silent SNP C C T TCGA-BR-8286-01A-12D-2340-08 TCGA-BR-8286-10A-01D-2340-08 Untested Somatic Phase_I WXS none Illumina GAIIx e0d70de9-86fb-406d-8959-9089f3a44127 8fb6969d-2604-44c5-88ff-6fdd69c9a472 g.chr7:42085089C>T uc011kbh.1 - 6 811 c.720G>A c.(718-720)CAG>CAA p.Q240Q GLI3_uc011kbg.1_Silent_p.Q181Q NM_000168 NP_000159 P10071 GLI3_HUMAN GLI-Kruppel family member GLI3 240 negative regulation of alpha-beta T cell differentiation|negative regulation of canonical Wnt receptor signaling pathway|negative regulation of smoothened signaling pathway|negative regulation of transcription from RNA polymerase II promoter|negative thymic T cell selection|positive regulation of alpha-beta T cell differentiation|positive regulation of transcription from RNA polymerase II promoter|thymocyte apoptosis cilium|cytosol|nucleolus beta-catenin binding|histone acetyltransferase binding|histone deacetylase binding|sequence-specific DNA binding transcription factor activity|zinc ion binding lung(11)|ovary(3)|large_intestine(2)|central_nervous_system(1)|kidney(1)|pancreas(1) 19 GCAGGGCCATCTGATGATAGT 0.532000 Greig_Cephalopolysyndactyly|Pallister-Hall_syndrome IGFBP1 3484 broad.mit.edu 37 7 45931573 45931573 + Missense_Mutation SNP G G T TCGA-BR-8286-01A-12D-2340-08 TCGA-BR-8286-10A-01D-2340-08 Untested Somatic Phase_I WXS none Illumina GAIIx e0d70de9-86fb-406d-8959-9089f3a44127 8fb6969d-2604-44c5-88ff-6fdd69c9a472 g.chr7:45931573G>T uc003tnp.2 + 3 855 c.562G>T c.(562-564)GCC>TCC p.A188S IGFBP1_uc003tno.3_Missense_Mutation_p.A188S|IGFBP1_uc010kyn.2_Intron NM_000596 NP_000587 P08833 IBP1_HUMAN insulin-like growth factor binding protein 1 188 Thyroglobulin type-1. extracellular space insulin-like growth factor binding lung(1) 1 AGAGAGTTTAGCCAAGGCACA 0.428000 OREG0018048 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) PCLO 27445 broad.mit.edu 37 7 82582874 82582874 + Silent SNP T T G TCGA-BR-8286-01A-12D-2340-08 TCGA-BR-8286-10A-01D-2340-08 Untested Somatic Phase_I WXS none Illumina GAIIx e0d70de9-86fb-406d-8959-9089f3a44127 8fb6969d-2604-44c5-88ff-6fdd69c9a472 g.chr7:82582874T>G uc003uhx.2 - 5 7684 c.7395A>C c.(7393-7395)ACA>ACC p.T2465T PCLO_uc003uhv.2_Silent_p.T2465T|PCLO_uc010lec.2_5'Flank NM_033026 NP_149015 Q9Y6V0 PCLO_HUMAN piccolo isoform 1 2396 Pro-rich. cytoskeleton organization|synaptic vesicle exocytosis cell junction|cytoskeleton|synaptic vesicle calcium ion binding|calcium-dependent phospholipid binding|profilin binding|transporter activity ovary(7) 7 TCAGAACAGCTGTGGTCTCTA 0.408000 MUC17 140453 broad.mit.edu 37 7 100687003 100687003 + Silent SNP C C G TCGA-BR-8286-01A-12D-2340-08 TCGA-BR-8286-10A-01D-2340-08 Untested Somatic Phase_I WXS none Illumina GAIIx e0d70de9-86fb-406d-8959-9089f3a44127 8fb6969d-2604-44c5-88ff-6fdd69c9a472 g.chr7:100687003C>G uc003uxp.1 + 3 12359 c.12306C>G c.(12304-12306)ACC>ACG p.T4102T MUC17_uc010lho.1_RNA NM_001040105 NP_001035194 Q685J3 MUC17_HUMAN mucin 17 precursor 4102 Extracellular (Potential). extracellular region|integral to membrane|plasma membrane extracellular matrix constituent, lubricant activity ovary(14)|skin(8)|breast(3)|lung(2) 27 Lung NSC(181;0.136)|all_lung(186;0.182) GCACACGGACCACTTCCTTCC 0.552000 ANKRD7 56311 broad.mit.edu 37 7 117864908 117864908 + Missense_Mutation SNP G G T TCGA-BR-8286-01A-12D-2340-08 TCGA-BR-8286-10A-01D-2340-08 Untested Somatic Phase_I WXS none Illumina GAIIx e0d70de9-86fb-406d-8959-9089f3a44127 8fb6969d-2604-44c5-88ff-6fdd69c9a472 g.chr7:117864908G>T uc003vji.2 + 1 197 c.24G>T c.(22-24)TGG>TGT p.W8C NM_019644 NP_062618 Q92527 ANKR7_HUMAN ankyrin repeat domain 7 8 male gonad development 0 TCAGCTTCTGGAAGAGGAAGA 0.527000 TPK1 27010 broad.mit.edu 37 7 144463012 144463012 + Nonsense_Mutation SNP G G A TCGA-BR-8286-01A-12D-2340-08 TCGA-BR-8286-10A-01D-2340-08 Untested Somatic Phase_I WXS none Illumina GAIIx e0d70de9-86fb-406d-8959-9089f3a44127 8fb6969d-2604-44c5-88ff-6fdd69c9a472 g.chr7:144463012G>A uc003weq.2 - 3 179 c.76C>T c.(76-78)CAG>TAG p.Q26* TPK1_uc003wer.2_Nonsense_Mutation_p.Q26*|TPK1_uc003wes.2_RNA NM_022445 NP_071890 Q9H3S4 TPK1_HUMAN thiamin pyrophosphokinase 1 isoform a 26 thiamine diphosphate biosynthetic process cytosol ATP binding|kinase activity|thiamine diphosphokinase activity ovary(2) 2 Thiamine(DB00152) TCCAAAGGCTGATTAAGAATT 0.318000 PTPRN2 5799 broad.mit.edu 37 7 157370783 157370783 + Missense_Mutation SNP G G A TCGA-BR-8286-01A-12D-2340-08 TCGA-BR-8286-10A-01D-2340-08 Untested Somatic Phase_I WXS none Illumina GAIIx e0d70de9-86fb-406d-8959-9089f3a44127 8fb6969d-2604-44c5-88ff-6fdd69c9a472 g.chr7:157370783G>A uc003wno.2 - 18 2667 c.2546C>T c.(2545-2547)GCG>GTG p.A849V PTPRN2_uc003wnp.2_Missense_Mutation_p.A832V|PTPRN2_uc003wnq.2_Missense_Mutation_p.A820V|PTPRN2_uc003wnr.2_Missense_Mutation_p.A811V|PTPRN2_uc011kwa.1_Missense_Mutation_p.A872V NM_002847 NP_002838 Q92932 PTPR2_HUMAN protein tyrosine phosphatase, receptor type, N 849 Cytoplasmic (Potential).|Tyrosine-protein phosphatase. integral to plasma membrane protein binding|transmembrane receptor protein tyrosine phosphatase activity ovary(4)|large_intestine(1)|pleura(1)|skin(1) 7 all_neural(206;0.181) all_cancers(7;8.99e-13)|all_epithelial(9;2.4e-06)|all_hematologic(28;0.0155)|Breast(660;0.132) OV - Ovarian serous cystadenocarcinoma(82;0.00463) STAD - Stomach adenocarcinoma(7;0.0875) GCCGTTCTCCGCGAGGGGTGT 0.622000 NCAPG2 54892 broad.mit.edu 37 7 158448112 158448112 + Silent SNP C C T TCGA-BR-8286-01A-12D-2340-08 TCGA-BR-8286-10A-01D-2340-08 Untested Somatic Phase_I WXS none Illumina GAIIx e0d70de9-86fb-406d-8959-9089f3a44127 8fb6969d-2604-44c5-88ff-6fdd69c9a472 g.chr7:158448112C>T uc003wnv.1 - 20 2569 c.2424G>A c.(2422-2424)GGG>GGA p.G808G NCAPG2_uc010lqu.1_Silent_p.G600G|NCAPG2_uc003wnw.1_RNA|NCAPG2_uc003wnx.1_Silent_p.G808G|NCAPG2_uc011kwe.1_Silent_p.G808G|NCAPG2_uc011kwc.1_Silent_p.G309G|NCAPG2_uc011kwd.1_Silent_p.G251G NM_017760 NP_060230 Q86XI2 CNDG2_HUMAN leucine zipper protein 5 808 cell division|chromosome condensation|mitosis nucleus methylated histone residue binding ovary(1)|breast(1)|kidney(1) 3 Ovarian(565;0.152) all_cancers(7;3.44e-11)|all_epithelial(9;3.05e-05)|all_hematologic(28;0.014) OV - Ovarian serous cystadenocarcinoma(82;0.00174) UCEC - Uterine corpus endometrioid carcinoma (81;0.187)|STAD - Stomach adenocarcinoma(7;0.18) CACGAGGCTTCCCACCCGGTG 0.587000 PREX2 80243 broad.mit.edu 37 8 68930087 68930087 + Missense_Mutation SNP T T G TCGA-BR-8286-01A-12D-2340-08 TCGA-BR-8286-10A-01D-2340-08 Untested Somatic Phase_I WXS none Illumina GAIIx e0d70de9-86fb-406d-8959-9089f3a44127 8fb6969d-2604-44c5-88ff-6fdd69c9a472 g.chr8:68930087T>G uc003xxv.1 + 2 175 c.148T>G c.(148-150)TTA>GTA p.L50V PREX2_uc003xxu.1_Missense_Mutation_p.L50V|PREX2_uc011lez.1_Intron NM_024870 NP_079146 Q70Z35 PREX2_HUMAN DEP domain containing 2 isoform a 50 DH. G-protein coupled receptor protein signaling pathway|intracellular signal transduction intracellular protein binding|Rac GTPase activator activity|Rac guanyl-nucleotide exchange factor activity skin(6)|large_intestine(4)|pancreas(3)|lung(2)|ovary(1)|kidney(1) 17 GCAGGCATTCTTACACAGAAT 0.378000 ATP6V1C1 528 broad.mit.edu 37 8 104068162 104068162 + Silent SNP C C T TCGA-BR-8286-01A-12D-2340-08 TCGA-BR-8286-10A-01D-2340-08 Untested Somatic Phase_I WXS none Illumina GAIIx e0d70de9-86fb-406d-8959-9089f3a44127 8fb6969d-2604-44c5-88ff-6fdd69c9a472 g.chr8:104068162C>T uc003ykz.3 + 8 884 c.639C>T c.(637-639)AGC>AGT p.S213S ATP6V1C1_uc010mbz.2_Silent_p.S138S|ATP6V1C1_uc003yla.2_Silent_p.S213S|ATP6V1C1_uc011lhl.1_Silent_p.S138S NM_001695 NP_001686 P21283 VATC1_HUMAN ATPase, H+ transporting, lysosomal V1 subunit 213 ATP hydrolysis coupled proton transport|cellular iron ion homeostasis|insulin receptor signaling pathway|transferrin transport cytosol|plasma membrane|proton-transporting V-type ATPase, V1 domain protein binding|proton-transporting ATPase activity, rotational mechanism 0 Lung NSC(17;0.000427)|all_lung(17;0.000533) OV - Ovarian serous cystadenocarcinoma(57;3.57e-05)|STAD - Stomach adenocarcinoma(118;0.133) CAAGGTCTAGCAAGTAAGTAG 0.373000 CSMD3 114788 broad.mit.edu 37 8 113585844 113585844 + Missense_Mutation SNP A A T TCGA-BR-8286-01A-12D-2340-08 TCGA-BR-8286-10A-01D-2340-08 Untested Somatic Phase_I WXS none Illumina GAIIx e0d70de9-86fb-406d-8959-9089f3a44127 8fb6969d-2604-44c5-88ff-6fdd69c9a472 g.chr8:113585844A>T uc003ynu.2 - 24 4087 c.3928T>A c.(3928-3930)TTT>ATT p.F1310I CSMD3_uc003yns.2_Missense_Mutation_p.F582I|CSMD3_uc003ynt.2_Missense_Mutation_p.F1270I|CSMD3_uc011lhx.1_Missense_Mutation_p.F1206I NM_198123 NP_937756 Q7Z407 CSMD3_HUMAN CUB and Sushi multiple domains 3 isoform 1 1310 Extracellular (Potential).|CUB 7. integral to membrane|plasma membrane ovary(21)|lung(11)|skin(11)|kidney(8)|large_intestine(6)|upper_aerodigestive_tract(2)|central_nervous_system(2)|urinary_tract(1)|breast(1) 63 GCACCAGTAAAAGCACCTAGT 0.343000 HNSCC(6;0.00088)|TCGA Ovarian(7;0.080) BAI1 575 broad.mit.edu 37 8 143624776 143624776 + Missense_Mutation SNP C C T TCGA-BR-8286-01A-12D-2340-08 TCGA-BR-8286-10A-01D-2340-08 Untested Somatic Phase_I WXS none Illumina GAIIx e0d70de9-86fb-406d-8959-9089f3a44127 8fb6969d-2604-44c5-88ff-6fdd69c9a472 g.chr8:143624776C>T uc003ywm.2 + 28 4609 c.4426C>T c.(4426-4428)CGG>TGG p.R1476W NM_001702 NP_001693 O14514 BAI1_HUMAN brain-specific angiogenesis inhibitor 1 1476 Cytoplasmic (Potential).|Necessary for interaction with MAGI1. axonogenesis|cell adhesion|negative regulation of angiogenesis|negative regulation of cell proliferation|neuropeptide signaling pathway|peripheral nervous system development cell-cell junction|integral to plasma membrane G-protein coupled receptor activity|protein binding lung(3)|ovary(2)|breast(1)|central_nervous_system(1)|pancreas(1) 8 all_cancers(97;2.84e-12)|all_epithelial(106;5.91e-09)|Lung NSC(106;0.000322)|all_lung(105;0.000616)|Medulloblastoma(13;0.00276)|all_neural(13;0.00559)|Ovarian(258;0.0315)|Acute lymphoblastic leukemia(118;0.155) GCGGAAGTCGCGGTATGCAGA 0.627000 CYP11B1 1584 broad.mit.edu 37 8 143961157 143961157 + Missense_Mutation SNP C C T TCGA-BR-8286-01A-12D-2340-08 TCGA-BR-8286-10A-01D-2340-08 Untested Somatic Phase_I WXS none Illumina GAIIx e0d70de9-86fb-406d-8959-9089f3a44127 8fb6969d-2604-44c5-88ff-6fdd69c9a472 g.chr8:143961157C>T uc003yxi.2 - 1 80 c.73G>A c.(73-75)GGC>AGC p.G25S CYP11B1_uc003yxj.2_Missense_Mutation_p.G25S|CYP11B1_uc010mey.2_Missense_Mutation_p.G25S NM_000497 NP_000488 P15538 C11B1_HUMAN cytochrome P450, family 11, subfamily B, 25 aldosterone biosynthetic process|cellular response to hormone stimulus|cellular response to potassium ion|cortisol biosynthetic process|glucose homeostasis|immune response|regulation of blood pressure|response to stress|xenobiotic metabolic process mitochondrial inner membrane electron carrier activity|steroid 11-beta-monooxygenase activity ovary(3) 3 all_cancers(97;4.74e-11)|all_epithelial(106;2.06e-08)|Lung NSC(106;0.000228)|all_lung(105;0.000633)|Medulloblastoma(13;0.00276)|all_neural(13;0.00559)|Ovarian(258;0.0254)|Acute lymphoblastic leukemia(118;0.155) Mitotane(DB00648) GCTCTCGTGCCCAGTGCCTGT 0.647000 Familial_Hyperaldosteronism_type_I PTPRD 5789 broad.mit.edu 37 9 8404618 8404618 + Silent SNP A A G TCGA-BR-8286-01A-12D-2340-08 TCGA-BR-8286-10A-01D-2340-08 Untested Somatic Phase_I WXS none Illumina GAIIx e0d70de9-86fb-406d-8959-9089f3a44127 8fb6969d-2604-44c5-88ff-6fdd69c9a472 g.chr9:8404618A>G uc003zkk.2 - 35 4840 c.4129T>C c.(4129-4131)TTG>CTG p.L1377L PTPRD_uc003zkp.2_Silent_p.L971L|PTPRD_uc003zkq.2_Silent_p.L970L|PTPRD_uc003zkr.2_Silent_p.L961L|PTPRD_uc003zks.2_Silent_p.L970L|PTPRD_uc003zkl.2_Silent_p.L1368L|PTPRD_uc003zkm.2_Silent_p.L1364L|PTPRD_uc003zkn.2_Silent_p.L966L|PTPRD_uc003zko.2_Silent_p.L967L NM_002839 NP_002830 P23468 PTPRD_HUMAN protein tyrosine phosphatase, receptor type, D 1377 Cytoplasmic (Potential).|Tyrosine-protein phosphatase 1. transmembrane receptor protein tyrosine phosphatase signaling pathway integral to plasma membrane protein binding|transmembrane receptor protein tyrosine phosphatase activity lung(14)|large_intestine(3)|ovary(2)|breast(2)|urinary_tract(1) 22 all_cancers(3;3.38e-95)|all_epithelial(3;2.84e-91)|all_lung(3;7.3e-56)|Lung NSC(3;1.82e-52)|Renal(3;3.42e-19)|all_hematologic(3;0.000134)|all_neural(3;0.00409)|Acute lymphoblastic leukemia(23;0.0069)|Melanoma(3;0.0121)|Myeloproliferative disorder(4;0.0122)|Medulloblastoma(3;0.0144)|Lung SC(3;0.0301)|Ovarian(56;0.0694)|Hepatocellular(3;0.0824) all cancers(1;3.38e-12)|Epithelial(1;2.12e-09)|STAD - Stomach adenocarcinoma(1;1.29e-07)|KIRC - Kidney renal clear cell carcinoma(3;5.49e-07)|Kidney(3;6.36e-07)|GBM - Glioblastoma multiforme(50;9.05e-05)|Lung(1;0.000189)|BRCA - Breast invasive adenocarcinoma(1;0.00178)|LUSC - Lung squamous cell carcinoma(1;0.0115)|LUAD - Lung adenocarcinoma(58;0.119) TTTACTTCCAAGTTTGAATGT 0.378000 TSP Lung(15;0.13) BNC2 54796 broad.mit.edu 37 9 16436012 16436012 + Missense_Mutation SNP T T C TCGA-BR-8286-01A-12D-2340-08 TCGA-BR-8286-10A-01D-2340-08 Untested Somatic Phase_I WXS none Illumina GAIIx e0d70de9-86fb-406d-8959-9089f3a44127 8fb6969d-2604-44c5-88ff-6fdd69c9a472 g.chr9:16436012T>C uc003zml.2 - 6 2320 c.2180A>G c.(2179-2181)GAG>GGG p.E727G BNC2_uc011lmw.1_Missense_Mutation_p.E632G|BNC2_uc003zmm.2_Missense_Mutation_p.E685G|BNC2_uc003zmq.1_Missense_Mutation_p.E741G|BNC2_uc003zmr.1_Missense_Mutation_p.E764G|BNC2_uc003zmp.1_Missense_Mutation_p.E755G|BNC2_uc010mij.1_Missense_Mutation_p.E649G|BNC2_uc011lmv.1_Missense_Mutation_p.E553G|BNC2_uc003zmo.1_Missense_Mutation_p.E649G|BNC2_uc003zmj.2_Missense_Mutation_p.E492G|BNC2_uc003zmk.2_RNA|BNC2_uc003zmi.2_Missense_Mutation_p.E492G|BNC2_uc003zmn.1_Missense_Mutation_p.E492G NM_017637 NP_060107 Q6ZN30 BNC2_HUMAN basonuclin 2 727 regulation of transcription, DNA-dependent|transcription, DNA-dependent cytoplasm|nucleus|plasma membrane zinc ion binding ovary(2)|central_nervous_system(1) 3 GBM - Glioblastoma multiforme(50;9.01e-08) CTCCGAAGACTCAGACTCGTT 0.507000 ADAMTSL1 92949 broad.mit.edu 37 9 18680489 18680489 + Missense_Mutation SNP A A C TCGA-BR-8286-01A-12D-2340-08 TCGA-BR-8286-10A-01D-2340-08 Untested Somatic Phase_I WXS none Illumina GAIIx e0d70de9-86fb-406d-8959-9089f3a44127 8fb6969d-2604-44c5-88ff-6fdd69c9a472 g.chr9:18680489A>C uc003zne.3 + 11 1443 c.1316A>C c.(1315-1317)AAA>ACA p.K439T ADAMTSL1_uc003znb.2_Missense_Mutation_p.K422T|ADAMTSL1_uc003znc.3_Missense_Mutation_p.K439T NM_001040272 NP_001035362 Q8N6G6 ATL1_HUMAN ADAMTS-like 1 isoform 4 precursor 439 TSP type-1 3. proteinaceous extracellular matrix metallopeptidase activity|zinc ion binding ovary(3)|upper_aerodigestive_tract(1)|lung(1) 5 GBM - Glioblastoma multiforme(50;1.29e-17) GACTGCCCTAAATGGCTGGCA 0.527000 CORO2A 7464 broad.mit.edu 37 9 100890891 100890891 + Missense_Mutation SNP G G A rs141466107 TCGA-BR-8286-01A-12D-2340-08 TCGA-BR-8286-10A-01D-2340-08 Untested Somatic Phase_I WXS none Illumina GAIIx e0d70de9-86fb-406d-8959-9089f3a44127 8fb6969d-2604-44c5-88ff-6fdd69c9a472 g.chr9:100890891G>A uc004ayl.2 - 9 1344 c.1078C>T c.(1078-1080)CGG>TGG p.R360W CORO2A_uc004aym.2_Missense_Mutation_p.R360W|CORO2A_uc004ayk.2_5'Flank NM_003389 NP_003380 Q92828 COR2A_HUMAN coronin, actin binding protein, 2A 360 R -> G (in Ref. 1; AAB47807). actin cytoskeleton organization|intracellular signal transduction actin cytoskeleton|transcriptional repressor complex actin filament binding skin(2)|ovary(1)|pancreas(1) 4 Acute lymphoblastic leukemia(62;0.0559) GCCCTTACCCGCCGGGGCACA 0.607000 SVEP1 79987 broad.mit.edu 37 9 113261433 113261433 + Silent SNP C C T rs3737156 by1000genomes TCGA-BR-8286-01A-12D-2340-08 TCGA-BR-8286-10A-01D-2340-08 Untested Somatic Phase_I WXS none Illumina GAIIx e0d70de9-86fb-406d-8959-9089f3a44127 8fb6969d-2604-44c5-88ff-6fdd69c9a472 g.chr9:113261433C>T uc010mtz.2 - 7 1906 c.1569G>A c.(1567-1569)ACG>ACA p.T523T SVEP1_uc010mua.1_Silent_p.T523T|SVEP1_uc004beu.2_Silent_p.T523T NM_153366 NP_699197 Q4LDE5 SVEP1_HUMAN polydom 523 Sushi 3. cell adhesion cytoplasm|extracellular region|membrane calcium ion binding ovary(7) 7 CATAGCAGATCGTCCCAAATT 0.488000 FKBP15 23307 broad.mit.edu 37 9 115959233 115959233 + Silent SNP C C A TCGA-BR-8286-01A-12D-2340-08 TCGA-BR-8286-10A-01D-2340-08 Untested Somatic Phase_I WXS none Illumina GAIIx e0d70de9-86fb-406d-8959-9089f3a44127 8fb6969d-2604-44c5-88ff-6fdd69c9a472 g.chr9:115959233C>A uc004bgs.2 - 9 961 c.843G>T c.(841-843)GTG>GTT p.V281V FKBP15_uc010muu.1_Silent_p.V345V|FKBP15_uc011lxd.1_Silent_p.V213V|FKBP15_uc010mut.1_Silent_p.V149V|FKBP15_uc004bgt.2_Silent_p.V281V NM_015258 NP_056073 Q5T1M5 FKB15_HUMAN FK506 binding protein 15, 133kDa 281 PPIase FKBP-type. endocytosis|protein folding axon|early endosome actin binding ovary(3) 3 CCACCTCGAACACCAGGATCG 0.463000 TLR4 7099 broad.mit.edu 37 9 120476848 120476848 + Silent SNP C C G TCGA-BR-8286-01A-12D-2340-08 TCGA-BR-8286-10A-01D-2340-08 Untested Somatic Phase_I WXS none Illumina GAIIx e0d70de9-86fb-406d-8959-9089f3a44127 8fb6969d-2604-44c5-88ff-6fdd69c9a472 g.chr9:120476848C>G uc004bjz.2 + 3 2733 c.2442C>G c.(2440-2442)GCC>GCG p.A814A TLR4_uc004bka.2_Silent_p.A774A|TLR4_uc004bkb.2_Silent_p.A614A NM_138554 NP_612564 O00206 TLR4_HUMAN toll-like receptor 4 precursor 814 Cytoplasmic (Potential).|TIR. activation of MAPK activity|cellular response to mechanical stimulus|detection of fungus|detection of lipopolysaccharide|I-kappaB phosphorylation|innate immune response|intestinal epithelial structure maintenance|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|negative regulation of ERK1 and ERK2 cascade|negative regulation of interferon-gamma production|negative regulation of interleukin-17 production|negative regulation of interleukin-23 production|negative regulation of interleukin-6 production|negative regulation of osteoclast differentiation|negative regulation of tumor necrosis factor production|positive regulation of chemokine production|positive regulation of interferon-alpha production|positive regulation of interferon-beta production|positive regulation of interferon-gamma production|positive regulation of interleukin-1 production|positive regulation of interleukin-10 production|positive regulation of interleukin-12 biosynthetic process|positive regulation of interleukin-12 production|positive regulation of interleukin-6 production|positive regulation of interleukin-8 biosynthetic process|positive regulation of interleukin-8 production|positive regulation of NF-kappaB import into nucleus|positive regulation of NF-kappaB transcription factor activity|positive regulation of nitric-oxide synthase biosynthetic process|positive regulation of platelet activation|positive regulation of transcription from RNA polymerase II promoter|positive regulation of tumor necrosis factor biosynthetic process|positive regulation of tumor necrosis factor production|T-helper 1 type immune response|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 4 signaling pathway external side of plasma membrane|integral to plasma membrane|lipopolysaccharide receptor complex|perinuclear region of cytoplasm lipopolysaccharide receptor activity|transmembrane receptor activity p.A814T(1) lung(10)|ovary(4)|breast(1)|skin(1) 16 TCAGAAAAGCCCTGCTGGATG 0.507000 LRSAM1 90678 broad.mit.edu 37 9 130249962 130249962 + Missense_Mutation SNP G G A TCGA-BR-8286-01A-12D-2340-08 TCGA-BR-8286-10A-01D-2340-08 Untested Somatic Phase_I WXS none Illumina GAIIx e0d70de9-86fb-406d-8959-9089f3a44127 8fb6969d-2604-44c5-88ff-6fdd69c9a472 g.chr9:130249962G>A uc004brb.1 + 18 1612 c.1267G>A c.(1267-1269)GAA>AAA p.E423K LRSAM1_uc010mxk.1_Missense_Mutation_p.E423K|LRSAM1_uc004brc.1_Missense_Mutation_p.E423K|LRSAM1_uc004brd.1_Missense_Mutation_p.E423K|LRSAM1_uc004bre.1_Missense_Mutation_p.E3K NM_001005373 NP_001005373 Q6UWE0 LRSM1_HUMAN leucine rich repeat and sterile alpha motif 423 negative regulation of endocytosis|non-lytic virus budding|protein autoubiquitination|protein catabolic process|protein polyubiquitination|protein transport|ubiquitin-dependent endocytosis cytoplasm|extracellular region|membrane part hormone activity|ubiquitin-protein ligase activity|zinc ion binding 0 CAGCATGGCCGAAATGGATGA 0.358000 GRIN1 2902 broad.mit.edu 37 9 140040199 140040199 + Missense_Mutation SNP C C T TCGA-BR-8286-01A-12D-2340-08 TCGA-BR-8286-10A-01D-2340-08 Untested Somatic Phase_I WXS none Illumina GAIIx e0d70de9-86fb-406d-8959-9089f3a44127 8fb6969d-2604-44c5-88ff-6fdd69c9a472 g.chr9:140040199C>T uc004clk.2 + 3 745 c.415C>T c.(415-417)CGC>TGC p.R139C GRIN1_uc004cli.1_5'UTR|GRIN1_uc004clj.1_Missense_Mutation_p.R136C|GRIN1_uc004cll.2_Missense_Mutation_p.R139C|GRIN1_uc004clm.2_Missense_Mutation_p.R139C|GRIN1_uc004cln.2_Missense_Mutation_p.R136C|GRIN1_uc004clo.2_Missense_Mutation_p.R136C NM_007327 NP_015566 Q05586 NMDZ1_HUMAN NMDA receptor 1 isoform NR1-3 precursor 139 Extracellular (Potential). ionotropic glutamate receptor signaling pathway|positive regulation of transcription from RNA polymerase II promoter|regulation of excitatory postsynaptic membrane potential|response to ethanol|visual learning cell junction|N-methyl-D-aspartate selective glutamate receptor complex|outer membrane-bounded periplasmic space|postsynaptic density|postsynaptic membrane|synaptic vesicle|synaptosome calcium ion binding|calmodulin binding|extracellular-glutamate-gated ion channel activity|glutamate binding|glycine binding skin(1) 1 all_cancers(76;0.0926) STAD - Stomach adenocarcinoma(284;0.0878) OV - Ovarian serous cystadenocarcinoma(145;6.87e-05)|Epithelial(140;0.00095) L-Glutamic Acid(DB00142)|Orphenadrine(DB01173) GAGCTTCCTGCGCACCGTGCC 0.677000 MXRA5 25878 broad.mit.edu 37 X 3261861 3261861 + Missense_Mutation SNP G G A TCGA-BR-8286-01A-12D-2340-08 TCGA-BR-8286-10A-01D-2340-08 Untested Somatic Phase_I WXS none Illumina GAIIx e0d70de9-86fb-406d-8959-9089f3a44127 8fb6969d-2604-44c5-88ff-6fdd69c9a472 g.chrX:3261861G>A uc004crg.3 - 2 171 c.14C>T c.(13-15)GCG>GTG p.A5V NM_015419 NP_056234 Q9NR99 MXRA5_HUMAN adlican precursor 5 extracellular region ovary(5)|lung(1)|central_nervous_system(1)|skin(1) 8 all_lung(23;0.00031)|Lung NSC(23;0.000946) CCCCCAGTGCGCGCGCTTGGG 0.627000 CXorf23 256643 broad.mit.edu 37 X 19947942 19947942 + Silent SNP G G A TCGA-BR-8286-01A-12D-2340-08 TCGA-BR-8286-10A-01D-2340-08 Untested Somatic Phase_I WXS none Illumina GAIIx e0d70de9-86fb-406d-8959-9089f3a44127 8fb6969d-2604-44c5-88ff-6fdd69c9a472 g.chrX:19947942G>A uc004czp.2 - 10 1980 c.1980C>T c.(1978-1980)ATC>ATT p.I660I CXorf23_uc010nfn.2_RNA|CXorf23_uc011mjg.1_Intron|CXorf23_uc004czo.2_Silent_p.I639I NM_198279 NP_938020 A2AJT9 CX023_HUMAN hypothetical protein LOC256643 689 mitochondrion lung(1)|skin(1) 2 ACTTATGAGTGATAAATCCCC 0.358000 FAM47B 170062 broad.mit.edu 37 X 34962853 34962853 + Silent SNP A A G TCGA-BR-8286-01A-12D-2340-08 TCGA-BR-8286-10A-01D-2340-08 Untested Somatic Phase_I WXS none Illumina GAIIx e0d70de9-86fb-406d-8959-9089f3a44127 8fb6969d-2604-44c5-88ff-6fdd69c9a472 g.chrX:34962853A>G uc004ddi.1 + 1 1923 c.1905A>G c.(1903-1905)AAA>AAG p.K635K NM_152631 NP_689844 Q8NA70 FA47B_HUMAN hypothetical protein LOC170062 635 ovary(3)|breast(1) 4 ACAAGTACAAAGAAGACGTCA 0.378000 SLC35A2 7355 broad.mit.edu 37 X 48762575 48762575 + Missense_Mutation SNP G G A TCGA-BR-8286-01A-12D-2340-08 TCGA-BR-8286-10A-01D-2340-08 Untested Somatic Phase_I WXS none Illumina GAIIx e0d70de9-86fb-406d-8959-9089f3a44127 8fb6969d-2604-44c5-88ff-6fdd69c9a472 g.chrX:48762575G>A uc004dlo.1 - 4 615 c.611C>T c.(610-612)GCA>GTA p.A204V SLC35A2_uc011mml.1_Missense_Mutation_p.A217V|SLC35A2_uc004dlp.1_Missense_Mutation_p.A204V|SLC35A2_uc011mmm.1_Missense_Mutation_p.A232V|SLC35A2_uc011mmn.1_Missense_Mutation_p.A143V|SLC35A2_uc004dlr.1_Intron|SLC35A2_uc004dlq.2_Intron NM_005660 NP_005651 P78381 S35A2_HUMAN solute carrier family 35, member A2 isoform a 204 Helical; (Potential). galactose metabolic process Golgi membrane|integral to membrane|nucleus sugar:hydrogen symporter activity|UDP-galactose transmembrane transporter activity breast(1) 1 CACGACGGCTGCCAGGCCTGC 0.642000 PPP1R3F 89801 broad.mit.edu 37 X 49127037 49127037 + Silent SNP C C T TCGA-BR-8286-01A-12D-2340-08 TCGA-BR-8286-10A-01D-2340-08 Untested Somatic Phase_I WXS none Illumina GAIIx e0d70de9-86fb-406d-8959-9089f3a44127 8fb6969d-2604-44c5-88ff-6fdd69c9a472 g.chrX:49127037C>T uc004dnh.1 + 1 721 c.705C>T c.(703-705)GAC>GAT p.D235D PPP1R3F_uc011mnd.1_Intron|PPP1R3F_uc004dni.2_Intron NM_033215 NP_149992 Q6ZSY5 PPR3F_HUMAN protein phosphatase 1, regulatory (inhibitor) 235 CBM21.|Extracellular (Potential). integral to membrane ovary(2)|skin(1) 3 Ovarian(276;0.236) CCTCGCCCGACGACGGCGGCC 0.726000 LAS1L 81887 broad.mit.edu 37 X 64744084 64744084 + Silent SNP G G A TCGA-BR-8286-01A-12D-2340-08 TCGA-BR-8286-10A-01D-2340-08 Untested Somatic Phase_I WXS none Illumina GAIIx e0d70de9-86fb-406d-8959-9089f3a44127 8fb6969d-2604-44c5-88ff-6fdd69c9a472 g.chrX:64744084G>A uc004dwa.1 - 10 1224 c.1152C>T c.(1150-1152)CCC>CCT p.P384P LAS1L_uc004dwc.1_Silent_p.P367P|LAS1L_uc004dwd.1_Silent_p.P325P NM_031206 NP_112483 Q9Y4W2 LAS1L_HUMAN LAS1-like 384 MLL1 complex|nucleolus protein binding ovary(3)|large_intestine(1) 4 CCCTGAGCAGGGGCTGCCAGA 0.567000 KLHL13 90293 broad.mit.edu 37 X 117043899 117043899 + Missense_Mutation SNP A A C TCGA-BR-8286-01A-12D-2340-08 TCGA-BR-8286-10A-01D-2340-08 Untested Somatic Phase_I WXS none Illumina GAIIx e0d70de9-86fb-406d-8959-9089f3a44127 8fb6969d-2604-44c5-88ff-6fdd69c9a472 g.chrX:117043899A>C uc004eql.2 - 5 793 c.731T>G c.(730-732)CTT>CGT p.L244R KLHL13_uc004eqk.2_Missense_Mutation_p.L193R|KLHL13_uc011mtn.1_Missense_Mutation_p.L84R|KLHL13_uc011mto.1_Missense_Mutation_p.L238R|KLHL13_uc011mtp.1_Missense_Mutation_p.L246R|KLHL13_uc004eqm.2_Missense_Mutation_p.L193R|KLHL13_uc011mtq.1_Missense_Mutation_p.L228R NM_033495 NP_277030 Q9P2N7 KLH13_HUMAN kelch-like 13 244 BACK. cytokinesis|mitosis|protein ubiquitination Cul3-RING ubiquitin ligase complex kidney(1)|skin(1) 2 ATTACTGGAAAGCACGAAGGC 0.463000 MAMLD1 10046 broad.mit.edu 37 X 149639247 149639247 + Silent SNP T T C TCGA-BR-8286-01A-12D-2340-08 TCGA-BR-8286-10A-01D-2340-08 Untested Somatic Phase_I WXS none Illumina GAIIx e0d70de9-86fb-406d-8959-9089f3a44127 8fb6969d-2604-44c5-88ff-6fdd69c9a472 g.chrX:149639247T>C uc004fee.1 + 3 1478 c.1402T>C c.(1402-1404)TTG>CTG p.L468L MAMLD1_uc011mxt.1_Silent_p.L430L|MAMLD1_uc011mxu.1_Silent_p.L443L|MAMLD1_uc011mxv.1_Silent_p.L443L|MAMLD1_uc011mxw.1_Silent_p.L395L NM_005491 NP_005482 Q13495 MAMD1_HUMAN mastermind-like domain containing 1 468 male gonad development|regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus 0 Acute lymphoblastic leukemia(192;6.56e-05) TAGCCCAGGCTTGCCACAGCA 0.498000 ATP2B3 492 broad.mit.edu 37 X 152825250 152825250 + Silent SNP C C T TCGA-BR-8286-01A-12D-2340-08 TCGA-BR-8286-10A-01D-2340-08 Untested Somatic Phase_I WXS none Illumina GAIIx e0d70de9-86fb-406d-8959-9089f3a44127 8fb6969d-2604-44c5-88ff-6fdd69c9a472 g.chrX:152825250C>T uc004fht.1 + 16 2815 c.2689C>T c.(2689-2691)CTG>TTG p.L897L ATP2B3_uc004fhs.1_Silent_p.L897L|ATP2B3_uc010nuf.1_5'Flank|ATP2B3_uc004fhu.1_5'Flank NM_001001344 NP_001001344 Q16720 AT2B3_HUMAN plasma membrane calcium ATPase 3 isoform 3b 897 Helical; (Potential). ATP biosynthetic process|platelet activation integral to membrane|plasma membrane ATP binding|calcium-transporting ATPase activity|calmodulin binding|metal ion binding pancreas(1) 1 all_hematologic(71;4.25e-06)|Acute lymphoblastic leukemia(192;6.56e-05) ATTTGCCTCTCTGGCCCTGGC 0.592000 HCN4 10021 broad.mit.edu 37 15 73615229 73615229 + Frame_Shift_Del DEL G G - TCGA-BR-8286-01A-12D-2340-08 TCGA-BR-8286-10A-01D-2340-08 Untested Somatic Phase_I WXS none Illumina GAIIx e0d70de9-86fb-406d-8959-9089f3a44127 8fb6969d-2604-44c5-88ff-6fdd69c9a472 g.chr15:73615229delG uc002avp.2 - 8 4199 c.3205delC c.(3205-3207)CGGfs p.R1069fs NM_005477 NP_005468 Q9Y3Q4 HCN4_HUMAN hyperpolarization activated cyclic 1069 Pro-rich.|Cytoplasmic (Potential). blood circulation|muscle contraction integral to membrane cAMP binding|protein binding|sodium channel activity|voltage-gated potassium channel activity ovary(5)|liver(1) 6 COAD - Colon adenocarcinoma(1;0.142) GGTGTGCCCCGGCGCTGGGGG 0.726 SLC4A10 57282 broad.mit.edu 37 2 162719565 162719566 + Frame_Shift_Ins INS - - A TCGA-BR-8286-01A-12D-2340-08 TCGA-BR-8286-10A-01D-2340-08 Untested Somatic Phase_I WXS none Illumina GAIIx e0d70de9-86fb-406d-8959-9089f3a44127 8fb6969d-2604-44c5-88ff-6fdd69c9a472 g.chr2:162719565_162719566insA uc002ubx.3 + 6 943_944 c.759_760insA c.(757-762)GACAAAfs p.D253fs SLC4A10_uc010fpa.1_Frame_Shift_Ins_p.D265fs|SLC4A10_uc010zcr.1_RNA|SLC4A10_uc002uby.3_Frame_Shift_Ins_p.D253fs|SLC4A10_uc010zcs.1_Frame_Shift_Ins_p.D264fs NM_022058 NP_071341 Q6U841 S4A10_HUMAN solute carrier family 4, sodium bicarbonate 253_254 Cytoplasmic (Potential). bicarbonate transport|chloride transport|sodium ion transport integral to membrane|plasma membrane inorganic anion exchanger activity|symporter activity ovary(2)|lung(2)|pancreas(1) 5 ATTCCATGGACAAAAATGGTAA 0.332 COL5A2 1290 broad.mit.edu 37 2 189915305 189915305 + Frame_Shift_Del DEL G G - TCGA-BR-8286-01A-12D-2340-08 TCGA-BR-8286-10A-01D-2340-08 Untested Somatic Phase_I WXS none Illumina GAIIx e0d70de9-86fb-406d-8959-9089f3a44127 8fb6969d-2604-44c5-88ff-6fdd69c9a472 g.chr2:189915305delG uc002uqk.2 - 43 3304 c.3029delC c.(3028-3030)CCAfs p.P1010fs COL5A2_uc010frx.2_Frame_Shift_Del_p.P586fs NM_000393 NP_000384 P05997 CO5A2_HUMAN alpha 2 type V collagen preproprotein 1010 axon guidance|collagen fibril organization|eye morphogenesis|skin development collagen type V extracellular matrix structural constituent ovary(2) 2 OV - Ovarian serous cystadenocarcinoma(117;0.0106)|Epithelial(96;0.127) CGCTGGGCCTGGTAGGCCGGG 0.493 ANTXR2 118429 broad.mit.edu 37 4 80898743 80898743 + Frame_Shift_Del DEL A A - TCGA-BR-8286-01A-12D-2340-08 TCGA-BR-8286-10A-01D-2340-08 Untested Somatic Phase_I WXS none Illumina GAIIx e0d70de9-86fb-406d-8959-9089f3a44127 8fb6969d-2604-44c5-88ff-6fdd69c9a472 g.chr4:80898743delA uc003hlz.3 - 16 2223 c.1460delT c.(1459-1461)CTAfs p.L487fs ANTXR2_uc003hly.3_Intron|ANTXR2_uc003hlx.1_Intron|ANTXR2_uc010ijn.2_Frame_Shift_Del_p.L384fs NM_001145794 NP_001139266 P58335 ANTR2_HUMAN anthrax toxin receptor 2 isoform 2 487 Cytoplasmic (Potential). endoplasmic reticulum membrane|extracellular region|integral to membrane|plasma membrane metal ion binding|protein binding|receptor activity ovary(1) 1 TCAAGCAGTTAGCTCTTTCTC 0.418 Juvenile_Hyaline_Fibromatosis RASA1 5921 broad.mit.edu 37 5 86564739 86564740 + Frame_Shift_Del DEL CT CT - TCGA-BR-8286-01A-12D-2340-08 TCGA-BR-8286-10A-01D-2340-08 Untested Somatic Phase_I WXS none Illumina GAIIx e0d70de9-86fb-406d-8959-9089f3a44127 8fb6969d-2604-44c5-88ff-6fdd69c9a472 g.chr5:86564739_86564740delCT uc003kiw.2 + 1 589_590 c.471_472delCT c.(469-474)GACTCTfs p.D157fs RASA1_uc010jav.2_RNA|RASA1_uc003kix.2_5'Flank|RASA1_uc011ctv.1_5'Flank|RASA1_uc011ctw.1_5'Flank|RASA1_uc010jaw.2_5'Flank|RASA1_uc011ctu.1_Frame_Shift_Del_p.D157fs NM_002890 NP_002881 P20936 RASA1_HUMAN RAS p21 protein activator 1 isoform 1 157_158 cytokinesis|embryo development|intracellular signal transduction|negative regulation of cell-matrix adhesion|negative regulation of neuron apoptosis|negative regulation of Ras protein signal transduction|positive regulation of anti-apoptosis|regulation of actin filament polymerization|regulation of cell shape|regulation of RNA metabolic process|vasculogenesis cytosol|intrinsic to internal side of plasma membrane glycoprotein binding|GTPase binding|potassium channel inhibitor activity|Ras GTPase activator activity|receptor binding upper_aerodigestive_tract(3)|ovary(1)|lung(1) 5 all_cancers(142;8.25e-07)|Lung NSC(167;0.000185)|all_lung(232;0.000222)|Colorectal(57;0.00542)|Ovarian(174;0.0423) OV - Ovarian serous cystadenocarcinoma(54;4.72e-41)|Epithelial(54;1.51e-36)|all cancers(79;3.76e-31) ACGAAGGTGACTCTCTGGATGG 0.594 COL11A1 1301 broad.mit.edu 37 1 103355063 103355063 + Frame_Shift_Del DEL C C - TCGA-BR-8286-01A-12D-2340-08 TCGA-BR-8286-10A-01D-2340-08 Untested Somatic Phase_I WXS none Illumina GAIIx e0d70de9-86fb-406d-8959-9089f3a44127 8fb6969d-2604-44c5-88ff-6fdd69c9a472 g.chr1:103355062_103355062AC>A uc001dum.3 - 58 4767 c.4449_4449GT>T c.(4447-4449)ggtfs p.G1483fs COL11A1_uc001duk.3_Frame_Shift_Del_p.G667fs|COL11A1_uc001dul.3_Frame_Shift_Del_p.G1471fs|COL11A1_uc001dun.3_Frame_Shift_Del_p.G1432fs|COL11A1_uc009weh.3_Frame_Shift_Del_p.G1355fs NM_080629 NP_542196 P12107 COBA1_HUMAN Homo sapiens collagen, type XI, alpha 1 (COL11A1), transcript variant B, mRNA. 1471 Triple-helical region. collagen fibril organization|detection of mechanical stimulus involved in sensory perception of sound|visual perception collagen type XI extracellular matrix binding|extracellular matrix structural constituent|protein binding, bridging NS(3)|biliary_tract(1)|breast(5)|central_nervous_system(2)|cervix(1)|endometrium(17)|kidney(8)|large_intestine(28)|lung(157)|ovary(6)|pancreas(2)|prostate(6)|skin(9)|stomach(1)|upper_aerodigestive_tract(11)|urinary_tract(1) 258 all_epithelial(167;2.52e-07)|all_lung(203;3.11e-05)|Lung NSC(277;6.61e-05)|Breast(1374;0.181) Lung(183;0.186)|all cancers(265;0.242)|Epithelial(280;0.248) GCCCTCGGTCACCTTTTTCCC 0.408 WBP1 23559 broad.mit.edu 37 2 74687410 74687411 + Frame_Shift_Ins INS - - C TCGA-BR-8286-01A-12D-2340-08 TCGA-BR-8286-10A-01D-2340-08 Untested Somatic Phase_I WXS none Illumina GAIIx e0d70de9-86fb-406d-8959-9089f3a44127 8fb6969d-2604-44c5-88ff-6fdd69c9a472 g.chr2:74687409_74687410A>AC uc002slj.2 + 3 614_615 c.411_412A>AC c.(409-414)ccacccfs p.P137fs INO80B_uc002sli.2_Non-coding_Transcript|WBP1_uc002sll.2_Non-coding_Transcript NM_012477 NP_036609 Q96G27 WBP1_HUMAN Homo sapiens WW domain binding protein 1 (WBP1), mRNA. 137 WW domain binding endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(1)|ovary(1)|urinary_tract(1) 8 CAGGCACACCACCCCCCCCTTA 0.584 SLC4A10 57282 broad.mit.edu 37 2 162719566 162719567 + Frame_Shift_Ins INS - - A TCGA-BR-8286-01A-12D-2340-08 TCGA-BR-8286-10A-01D-2340-08 Untested Somatic Phase_I WXS none Illumina GAIIx e0d70de9-86fb-406d-8959-9089f3a44127 8fb6969d-2604-44c5-88ff-6fdd69c9a472 g.chr2:162719565_162719566C>CA uc002ubx.4 + 5 943_944 c.759_760C>CA c.(757-762)gacaaafs p.D253fs SLC4A10_uc010fpa.1_Frame_Shift_Ins_p.D265fs|SLC4A10_uc010zcr.1_Non-coding_Transcript|SLC4A10_uc010zcs.2_Frame_Shift_Ins_p.D264fs|SLC4A10_uc002uby.4_Frame_Shift_Ins_p.D253fs NM_001178015 NP_001171486 Q6U841 S4A10_HUMAN Homo sapiens solute carrier family 4, sodium bicarbonate transporter, member 10 (SLC4A10), transcript variant 1, mRNA. 253 bicarbonate transport|chloride transport|sodium ion transport integral to membrane|plasma membrane inorganic anion exchanger activity|symporter activity endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|kidney(4)|large_intestine(9)|lung(35)|ovary(2)|pancreas(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 60 ATTCCATGGACAAAAATGGTAA 0.332 PBLD 64081 broad.mit.edu 37 10 70051949 70051950 + In_Frame_Ins INS - - TAGTTCTCC TCGA-BR-8286-01A-12D-2340-08 TCGA-BR-8286-10A-01D-2340-08 Untested Somatic Phase_I WXS none Illumina GAIIx e0d70de9-86fb-406d-8959-9089f3a44127 8fb6969d-2604-44c5-88ff-6fdd69c9a472 g.chr10:70051948_70051949T>TTAGTTCTCC uc001jns.1 - 4 533_534 c.330_331A>GGAGAACTAA c.(328-333)ctaagg>ctGGAGAACTAAgg p.111_111R>EN* PBLD_uc001jnr.1_In_Frame_Ins_p.78_78R>EN*|PBLD_uc001jnt.1_In_Frame_Ins_p.111_111R>EN*|PBLD_uc001jnu.1_In_Frame_Ins_p.111_111R>EN*|PBLD_uc001jnv.1_In_Frame_Ins_p.78_78R>EN* NM_022129 NP_071412 P30039 PBLD_HUMAN Homo sapiens phenazine biosynthesis-like protein domain containing (PBLD), transcript variant 1, mRNA. 111 biosynthetic process isomerase activity endometrium(4)|kidney(2)|large_intestine(2)|liver(1)|lung(8)|ovary(1)|skin(2)|upper_aerodigestive_tract(1) 21 CGTCTGGCCCTTAGTTCTCCAC 0.455 PDE2A 5138 broad.mit.edu 37 11 72307657 72307658 + Frame_Shift_Ins INS - - C rs142944983 TCGA-BR-8286-01A-12D-2340-08 TCGA-BR-8286-10A-01D-2340-08 Untested Somatic Phase_I WXS none Illumina GAIIx e0d70de9-86fb-406d-8959-9089f3a44127 8fb6969d-2604-44c5-88ff-6fdd69c9a472 g.chr11:72307656_72307657G>GC uc010rrc.2 - 5 715_716 c.469_470C>GC c.(469-471)gccfs p.A157fs PDE2A_uc001oso.3_Frame_Shift_Ins_p.A136fs|PDE2A_uc010rra.2_Frame_Shift_Ins_p.A150fs|PDE2A_uc001osn.3_Intron|PDE2A_uc010rrb.2_Frame_Shift_Ins_p.A148fs|PDE2A_uc010rrd.2_Intron NM_002599 NP_002590 O00408 PDE2A_HUMAN Homo sapiens phosphodiesterase 2A, cGMP-stimulated (PDE2A), transcript variant 1, mRNA. 157 platelet activation|signal transduction cytosol 3',5'-cyclic-AMP phosphodiesterase activity|3',5'-cyclic-GMP phosphodiesterase activity|cGMP binding|cGMP-stimulated cyclic-nucleotide phosphodiesterase activity|metal ion binding breast(2)|endometrium(1)|kidney(3)|large_intestine(2)|lung(21)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(1) 36 BRCA - Breast invasive adenocarcinoma(5;3.55e-05) Sildenafil(DB00203)|Sulindac(DB00605) AGCTGCCACGGCCCCAGCCTCC 0.644 RYR1 6261 broad.mit.edu 37 19 38948159 38948160 + Frame_Shift_Ins INS - - TG TCGA-BR-8286-01A-12D-2340-08 TCGA-BR-8286-10A-01D-2340-08 Untested Somatic Phase_I WXS none Illumina GAIIx e0d70de9-86fb-406d-8959-9089f3a44127 8fb6969d-2604-44c5-88ff-6fdd69c9a472 g.chr19:38948158_38948159C>CTG uc002oit.3 + 16 1943_1944 c.1813_1814C>CTG c.(1813-1815)ctgfs p.L605fs RYR1_uc002oiu.3_Frame_Shift_Ins_p.L605fs NM_000540 NP_000531 P21817 RYR1_HUMAN Homo sapiens ryanodine receptor 1 (skeletal) (RYR1), transcript variant 1, mRNA. 605 B30.2/SPRY 1. muscle contraction|release of sequestered calcium ion into cytosol|response to caffeine|response to hypoxia I band|cell cortex|cytosol|integral to plasma membrane|junctional sarcoplasmic reticulum membrane|smooth endoplasmic reticulum|terminal cisterna calcium ion binding|calmodulin binding|receptor activity|ryanodine-sensitive calcium-release channel activity NS(4)|autonomic_ganglia(2)|breast(3)|central_nervous_system(5)|endometrium(26)|haematopoietic_and_lymphoid_tissue(3)|kidney(34)|large_intestine(42)|liver(1)|lung(106)|ovary(11)|pancreas(5)|prostate(9)|skin(12)|stomach(11)|upper_aerodigestive_tract(4)|urinary_tract(7) 285 all_cancers(60;7.91e-06) Lung(45;0.00172)|LUSC - Lung squamous cell carcinoma(53;0.00272) Dantrolene(DB01219) GCTATGCTCCCTGTGTGTGTGT 0.535 ALG12 79087 broad.mit.edu 37 22 50302920 50302921 + In_Frame_Ins INS - - GTG TCGA-BR-8286-01A-12D-2340-08 TCGA-BR-8286-10A-01D-2340-08 Untested Somatic Phase_I WXS none Illumina GAIIx e0d70de9-86fb-406d-8959-9089f3a44127 8fb6969d-2604-44c5-88ff-6fdd69c9a472 g.chr22:50302919_50302920A>AGTG uc003biy.3 - 5 1014_1015 c.740_741T>CACT c.(739-741)act>aCACT p.T247T NM_024105 NP_077010 Q9BV10 ALG12_HUMAN Homo sapiens asparagine-linked glycosylation 12, alpha-1,6-mannosyltransferase homolog (S. cerevisiae) (ALG12), mRNA. 247 GPI anchor biosynthetic process|dolichol-linked oligosaccharide biosynthetic process|post-translational protein modification|protein N-linked glycosylation via asparagine|protein folding integral to membrane|intrinsic to endoplasmic reticulum membrane endometrium(1)|kidney(1)|large_intestine(2)|lung(5)|prostate(3) 12 all_cancers(38;8.58e-10)|all_epithelial(38;1.15e-08)|all_lung(38;0.000109)|Lung NSC(38;0.0018)|Breast(42;0.00191)|Ovarian(80;0.0164)|Lung SC(80;0.164) BRCA - Breast invasive adenocarcinoma(115;0.199)|LUAD - Lung adenocarcinoma(64;0.247) TGTTCAGGACAGTGTTGTACCA 0.535