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 EPHA8 2046 broad.mit.edu 37 1 22927491 22927491 + Missense_Mutation SNP C C T TCGA-CG-5722-01A-21D-1600-08 TCGA-CG-5722-11A-02D-1600-08 Untested Somatic Phase_I WXS none Illumina GAIIx 78d7b4b4-4d1b-42a3-9051-3b84a0b371c4 f209e9fe-c3db-4fe3-bc2f-2f92cee6a331 g.chr1:22927491C>T uc001bfx.1 + 15 2764 c.2639C>T c.(2638-2640)GCG>GTG p.A880V NM_020526 NP_065387 P29322 EPHA8_HUMAN ephrin receptor EphA8 isoform 1 precursor 880 Cytoplasmic (Potential).|Protein kinase. integral to plasma membrane ATP binding|ephrin receptor activity central_nervous_system(5)|breast(3)|lung(2)|large_intestine(1)|stomach(1)|skin(1) 13 Colorectal(325;3.46e-05)|Lung NSC(340;6.55e-05)|all_lung(284;9.87e-05)|Renal(390;0.000219)|Breast(348;0.00222)|Ovarian(437;0.00308)|Myeloproliferative disorder(586;0.0255) UCEC - Uterine corpus endometrioid carcinoma (279;0.0227)|OV - Ovarian serous cystadenocarcinoma(117;7.29e-27)|Colorectal(126;1.61e-07)|COAD - Colon adenocarcinoma(152;1.14e-05)|GBM - Glioblastoma multiforme(114;1.74e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000554)|KIRC - Kidney renal clear cell carcinoma(1967;0.00272)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.199) AAGGACCGGGCGCAGCGGCCT 0.662000 CD53 963 broad.mit.edu 37 1 111441780 111441780 + Missense_Mutation SNP G G T TCGA-CG-5722-01A-21D-1600-08 TCGA-CG-5722-11A-02D-1600-08 Untested Somatic Phase_I WXS none Illumina GAIIx 78d7b4b4-4d1b-42a3-9051-3b84a0b371c4 f209e9fe-c3db-4fe3-bc2f-2f92cee6a331 g.chr1:111441780G>T uc001dzw.2 + 9 794 c.623G>T c.(622-624)TGC>TTC p.C208F CD53_uc001dzx.2_Missense_Mutation_p.C208F|CD53_uc010owa.1_Missense_Mutation_p.C149F|CD53_uc001dzy.2_Missense_Mutation_p.C153F NM_001040033 NP_001035122 P19397 CD53_HUMAN CD53 antigen 208 Cytoplasmic (Potential). signal transduction integral to membrane|plasma membrane 0 all_cancers(81;1.06e-05)|all_epithelial(167;1.95e-05)|all_lung(203;0.000199)|Lung NSC(277;0.000398) Lung(183;0.0264)|Colorectal(144;0.0375)|all cancers(265;0.11)|Epithelial(280;0.114)|COAD - Colon adenocarcinoma(174;0.141)|LUSC - Lung squamous cell carcinoma(189;0.144) ACCCTGAACTGCCAGATTGAC 0.443000 MAGI3 260425 broad.mit.edu 37 1 114225853 114225853 + Silent SNP G G A TCGA-CG-5722-01A-21D-1600-08 TCGA-CG-5722-11A-02D-1600-08 Untested Somatic Phase_I WXS none Illumina GAIIx 78d7b4b4-4d1b-42a3-9051-3b84a0b371c4 f209e9fe-c3db-4fe3-bc2f-2f92cee6a331 g.chr1:114225853G>A uc001edk.2 + 21 3844 c.3663G>A c.(3661-3663)TCG>TCA p.S1221S MAGI3_uc001edi.3_3'UTR|MAGI3_uc010owm.1_3'UTR|MAGI3_uc001edj.2_3'UTR|MAGI3_uc009wgo.2_RNA NM_001142782 NP_001136254 Q5TCQ9 MAGI3_HUMAN membrane-associated guanylate kinase-related 3 1246 apoptosis|interspecies interaction between organisms|intracellular signal transduction nucleus|tight junction ATP binding|guanylate kinase activity|protein binding lung(3)|ovary(2)|central_nervous_system(1) 6 Lung SC(450;0.184) all_cancers(81;2.34e-09)|all_epithelial(167;7.41e-09)|all_lung(203;7.13e-06)|Lung NSC(69;1.2e-05) Lung(183;0.0234)|Colorectal(144;0.0686)|all cancers(265;0.0792)|Epithelial(280;0.0866)|COAD - Colon adenocarcinoma(174;0.111)|LUSC - Lung squamous cell carcinoma(189;0.133) GAGGTAGATCGGTTAGTCCCA 0.398000 PDE4DIP 9659 broad.mit.edu 37 1 144917576 144917576 + Missense_Mutation SNP G G A TCGA-CG-5722-01A-21D-1600-08 TCGA-CG-5722-11A-02D-1600-08 Untested Somatic Phase_I WXS none Illumina GAIIx 78d7b4b4-4d1b-42a3-9051-3b84a0b371c4 f209e9fe-c3db-4fe3-bc2f-2f92cee6a331 g.chr1:144917576G>A uc001elw.3 - 12 1819 c.1528C>T c.(1528-1530)CGT>TGT p.R510C NBPF10_uc009wir.2_Intron|NBPF9_uc010oye.1_Intron|NBPF9_uc010oyf.1_Intron|NBPF9_uc010oyg.1_Intron|PDE4DIP_uc001elk.1_Intron|PDE4DIP_uc001ell.1_Intron|PDE4DIP_uc001elm.3_Intron|PDE4DIP_uc001eln.3_Intron|PDE4DIP_uc001elo.2_Intron|PDE4DIP_uc001elx.3_Missense_Mutation_p.R576C|PDE4DIP_uc001emc.1_Missense_Mutation_p.R510C|PDE4DIP_uc001emd.1_Missense_Mutation_p.R510C|PDE4DIP_uc001emb.1_Missense_Mutation_p.R673C|PDE4DIP_uc001eme.1_Missense_Mutation_p.R39C|PDE4DIP_uc001emf.1_Missense_Mutation_p.R297C NM_014644 NP_055459 Q5VU43 MYOME_HUMAN phosphodiesterase 4D interacting protein isoform 510 Potential. cellular protein complex assembly centrosome|Golgi apparatus|myofibril|nucleus enzyme binding ovary(4)|haematopoietic_and_lymphoid_tissue(1) 5 Colorectal(2;0.0829)|COAD - Colon adenocarcinoma(2;0.126) ACAGCAAGACGAAGCTGGCGC 0.443000 T PDGFRB MPD OR6K3 391114 broad.mit.edu 37 1 158687142 158687142 + Missense_Mutation SNP G G A rs79482939 by1000genomes TCGA-CG-5722-01A-21D-1600-08 TCGA-CG-5722-11A-02D-1600-08 Untested Somatic Phase_I WXS none Illumina GAIIx 78d7b4b4-4d1b-42a3-9051-3b84a0b371c4 f209e9fe-c3db-4fe3-bc2f-2f92cee6a331 g.chr1:158687142G>A uc010pip.1 - 1 812 c.812C>T c.(811-813)TCA>TTA p.S271L NM_001005327 NP_001005327 Q8NGY3 OR6K3_HUMAN olfactory receptor, family 6, subfamily K, 271 Helical; Name=6; (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity ovary(1)|kidney(1)|central_nervous_system(1) 3 all_hematologic(112;0.0378) GTACATGAGTGATACACTGCC 0.453000 SIPA1L2 57568 broad.mit.edu 37 1 232650895 232650895 + Missense_Mutation SNP G G A TCGA-CG-5722-01A-21D-1600-08 TCGA-CG-5722-11A-02D-1600-08 Untested Somatic Phase_I WXS none Illumina GAIIx 78d7b4b4-4d1b-42a3-9051-3b84a0b371c4 f209e9fe-c3db-4fe3-bc2f-2f92cee6a331 g.chr1:232650895G>A uc001hvg.2 - 1 349 c.191C>T c.(190-192)CCG>CTG p.P64L NM_020808 NP_065859 Q9P2F8 SI1L2_HUMAN signal-induced proliferation-associated 1 like 64 regulation of small GTPase mediated signal transduction intracellular GTPase activator activity ovary(2)|central_nervous_system(2)|pancreas(1)|skin(1) 6 all_cancers(173;0.00605)|Prostate(94;0.128)|all_epithelial(177;0.186) ACCATTAGCCGGACCACCACC 0.483000 OR2T12 127064 broad.mit.edu 37 1 248457935 248457935 + Missense_Mutation SNP C C A TCGA-CG-5722-01A-21D-1600-08 TCGA-CG-5722-11A-02D-1600-08 Untested Somatic Phase_I WXS none Illumina GAIIx 78d7b4b4-4d1b-42a3-9051-3b84a0b371c4 f209e9fe-c3db-4fe3-bc2f-2f92cee6a331 g.chr1:248457935C>A uc010pzj.1 - 1 946 c.946G>T c.(946-948)GCC>TCC p.A316S NM_001004692 NP_001004692 Q8NG77 O2T12_HUMAN olfactory receptor, family 2, subfamily T, 316 Cytoplasmic (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity skin(2)|ovary(1) 3 all_cancers(71;0.000108)|all_epithelial(71;1.03e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136) OV - Ovarian serous cystadenocarcinoma(106;0.0201) GACCTGTGGGCCTCATTTTGC 0.418000 CCNY 219771 broad.mit.edu 37 10 35772377 35772377 + Missense_Mutation SNP C C A TCGA-CG-5722-01A-21D-1600-08 TCGA-CG-5722-11A-02D-1600-08 Untested Somatic Phase_I WXS none Illumina GAIIx 78d7b4b4-4d1b-42a3-9051-3b84a0b371c4 f209e9fe-c3db-4fe3-bc2f-2f92cee6a331 g.chr10:35772377C>A uc001iyw.3 + 2 380 c.200C>A c.(199-201)ACA>AAA p.T67K CCNY_uc001iyu.3_Missense_Mutation_p.T13K|CCNY_uc001iyv.3_Missense_Mutation_p.T13K|CCNY_uc001iyx.3_Missense_Mutation_p.T13K|CCNY_uc009xmb.2_Intron|CCNY_uc010qet.1_5'UTR NM_145012 NP_659449 Q8ND76 CCNY_HUMAN cyclin Y isoform 1 67 cell division|G2/M transition of mitotic cell cycle|positive regulation of cyclin-dependent protein kinase activity|regulation of canonical Wnt receptor signaling pathway|Wnt receptor signaling pathway cytoplasmic cyclin-dependent protein kinase holoenzyme complex|nucleus|plasma membrane cyclin-dependent protein kinase regulator activity|protein kinase binding 0 CGGGCCAGCACAATATTCCTC 0.358000 GJD4 219770 broad.mit.edu 37 10 35896709 35896709 + Missense_Mutation SNP G G A TCGA-CG-5722-01A-21D-1600-08 TCGA-CG-5722-11A-02D-1600-08 Untested Somatic Phase_I WXS none Illumina GAIIx 78d7b4b4-4d1b-42a3-9051-3b84a0b371c4 f209e9fe-c3db-4fe3-bc2f-2f92cee6a331 g.chr10:35896709G>A uc001iyy.1 + 2 426 c.268G>A c.(268-270)GCC>ACC p.A90T NM_153368 NP_699199 Q96KN9 CXD4_HUMAN connexin40.1 90 Helical; (Potential). cell communication connexon complex|integral to membrane large_intestine(2)|pancreas(1)|central_nervous_system(1)|skin(1) 5 CCTCCCCTCCGCCGTCTTCAG 0.711000 OR51T1 401665 broad.mit.edu 37 11 4904053 4904053 + Silent SNP G G T TCGA-CG-5722-01A-21D-1600-08 TCGA-CG-5722-11A-02D-1600-08 Untested Somatic Phase_I WXS none Illumina GAIIx 78d7b4b4-4d1b-42a3-9051-3b84a0b371c4 f209e9fe-c3db-4fe3-bc2f-2f92cee6a331 g.chr11:4904053G>T uc010qyp.1 + 1 1005 c.1005G>T c.(1003-1005)CTG>CTT p.L335L NM_001004759 NP_001004759 Q8NGJ9 O51T1_HUMAN olfactory receptor, family 51, subfamily T, 308 Cytoplasmic (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity ovary(2)|large_intestine(1) 3 Medulloblastoma(188;0.0075)|all_neural(188;0.0577)|Breast(177;0.086) Epithelial(150;4.77e-12)|BRCA - Breast invasive adenocarcinoma(625;0.00435)|LUSC - Lung squamous cell carcinoma(625;0.19) TGTTCCAGCTGCTCCAATCCA 0.458000 OR4D10 390197 broad.mit.edu 37 11 59245145 59245145 + Silent SNP T T C TCGA-CG-5722-01A-21D-1600-08 TCGA-CG-5722-11A-02D-1600-08 Untested Somatic Phase_I WXS none Illumina GAIIx 78d7b4b4-4d1b-42a3-9051-3b84a0b371c4 f209e9fe-c3db-4fe3-bc2f-2f92cee6a331 g.chr11:59245145T>C uc001nnz.1 + 1 243 c.243T>C c.(241-243)GTT>GTC p.V81V NM_001004705 NP_001004705 Q8NGI6 OR4DA_HUMAN olfactory receptor, family 4, subfamily D, 81 Extracellular (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity ovary(2)|skin(1) 3 TGCCCAAGGTTCTGGTGGACC 0.433000 OVOL1 5017 broad.mit.edu 37 11 65561652 65561652 + Missense_Mutation SNP C C T TCGA-CG-5722-01A-21D-1600-08 TCGA-CG-5722-11A-02D-1600-08 Untested Somatic Phase_I WXS none Illumina GAIIx 78d7b4b4-4d1b-42a3-9051-3b84a0b371c4 f209e9fe-c3db-4fe3-bc2f-2f92cee6a331 g.chr11:65561652C>T uc001ofp.2 + 2 567 c.251C>T c.(250-252)TCT>TTT p.S84F OVOL1_uc001ofq.2_Missense_Mutation_p.S22F NM_004561 NP_004552 O14753 OVOL1_HUMAN OVO-like 1 binding protein 84 transcription, DNA-dependent nucleus DNA binding|zinc ion binding central_nervous_system(1) 1 READ - Rectum adenocarcinoma(159;0.17) CAGCTGCCCTCTGAAGACATG 0.637000 ROBO4 54538 broad.mit.edu 37 11 124766118 124766118 + Missense_Mutation SNP G G A TCGA-CG-5722-01A-21D-1600-08 TCGA-CG-5722-11A-02D-1600-08 Untested Somatic Phase_I WXS none Illumina GAIIx 78d7b4b4-4d1b-42a3-9051-3b84a0b371c4 f209e9fe-c3db-4fe3-bc2f-2f92cee6a331 g.chr11:124766118G>A uc001qbg.2 - 4 795 c.655C>T c.(655-657)CGC>TGC p.R219C ROBO4_uc010sas.1_Missense_Mutation_p.R74C|ROBO4_uc001qbh.2_Missense_Mutation_p.R109C|ROBO4_uc001qbi.2_5'Flank|ROBO4_uc010sat.1_5'Flank NM_019055 NP_061928 Q8WZ75 ROBO4_HUMAN roundabout homolog 4, magic roundabout 219 Ig-like C2-type 2. angiogenesis|cell differentiation integral to membrane receptor activity ovary(1)|skin(1) 2 all_hematologic(175;0.215) Medulloblastoma(222;0.0523)|Lung NSC(97;0.118)|all_lung(97;0.126)|Breast(109;0.171)|all_neural(223;0.224) BRCA - Breast invasive adenocarcinoma(274;1.5e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0301) CGGGCTGCGCGGCTCTCCCTA 0.617000 AKAP3 10566 broad.mit.edu 37 12 4736611 4736611 + Missense_Mutation SNP C C T TCGA-CG-5722-01A-21D-1600-08 TCGA-CG-5722-11A-02D-1600-08 Untested Somatic Phase_I WXS none Illumina GAIIx 78d7b4b4-4d1b-42a3-9051-3b84a0b371c4 f209e9fe-c3db-4fe3-bc2f-2f92cee6a331 g.chr12:4736611C>T uc001qnb.3 - 4 1686 c.1457G>A c.(1456-1458)CGT>CAT p.R486H NM_006422 NP_006413 O75969 AKAP3_HUMAN A-kinase anchor protein 3 486 acrosome reaction|cellular component movement acrosomal vesicle protein kinase A binding skin(3)|large_intestine(1)|ovary(1)|kidney(1) 6 TGCAGGCTTACGCTGTGTGTT 0.428000 APOBEC1 339 broad.mit.edu 37 12 7805130 7805130 + Missense_Mutation SNP C C T TCGA-CG-5722-01A-21D-1600-08 TCGA-CG-5722-11A-02D-1600-08 Untested Somatic Phase_I WXS none Illumina GAIIx 78d7b4b4-4d1b-42a3-9051-3b84a0b371c4 f209e9fe-c3db-4fe3-bc2f-2f92cee6a331 g.chr12:7805130C>T uc001qtb.2 - 3 380 c.346G>A c.(346-348)GTA>ATA p.V116I APOBEC1_uc001qtc.2_Missense_Mutation_p.V71I|APOBEC1_uc010sgf.1_Missense_Mutation_p.V116I NM_001644 NP_001635 P41238 ABEC1_HUMAN apolipoprotein B mRNA editing enzyme 116 cytidine to uridine editing|DNA demethylation|lipid metabolic process|mRNA modification|mRNA processing|negative regulation of methylation-dependent chromatin silencing nucleoplasm cytidine deaminase activity|RNA binding|zinc ion binding 0 AGCCGAGCTACGTAGATCACT 0.488000 BAZ2A 11176 broad.mit.edu 37 12 57005736 57005736 + Missense_Mutation SNP G G T TCGA-CG-5722-01A-21D-1600-08 TCGA-CG-5722-11A-02D-1600-08 Untested Somatic Phase_I WXS none Illumina GAIIx 78d7b4b4-4d1b-42a3-9051-3b84a0b371c4 f209e9fe-c3db-4fe3-bc2f-2f92cee6a331 g.chr12:57005736G>T uc001slq.1 - 6 1630 c.1436C>A c.(1435-1437)GCA>GAA p.A479E BAZ2A_uc001slp.1_Missense_Mutation_p.A477E|BAZ2A_uc009zow.1_Missense_Mutation_p.A447E NM_013449 NP_038477 Q9UIF9 BAZ2A_HUMAN bromodomain adjacent to zinc finger domain, 2A 479 chromatin silencing at rDNA|DNA methylation|transcription, DNA-dependent chromatin silencing complex|nucleolus|rDNA heterochromatin DNA binding|histone acetyl-lysine binding|ligand-dependent nuclear receptor binding|RNA binding|zinc ion binding 0 TAAGGAGACTGCTGGGAGGAC 0.547000 RASSF3 283349 broad.mit.edu 37 12 65085273 65085273 + Missense_Mutation SNP C C T TCGA-CG-5722-01A-21D-1600-08 TCGA-CG-5722-11A-02D-1600-08 Untested Somatic Phase_I WXS none Illumina GAIIx 78d7b4b4-4d1b-42a3-9051-3b84a0b371c4 f209e9fe-c3db-4fe3-bc2f-2f92cee6a331 g.chr12:65085273C>T uc001ssd.2 + 4 601 c.481C>T c.(481-483)CGG>TGG p.R161W RASSF3_uc009zqn.2_RNA|RASSF3_uc001sse.2_Missense_Mutation_p.R91W NM_178169 NP_835463 Q86WH2 RASF3_HUMAN Ras association (RalGDS/AF-6) domain family 161 Ras-associating. signal transduction cytoplasm|microtubule identical protein binding 0 Lung(2;0.00133)|LUAD - Lung adenocarcinoma(6;0.0665)|LUSC - Lung squamous cell carcinoma(43;0.132) GBM - Glioblastoma multiforme(28;0.0611) GCTCTCAGACCGGGAACATCC 0.478000 NBEA 26960 broad.mit.edu 37 13 36046612 36046612 + Missense_Mutation SNP C C T TCGA-CG-5722-01A-21D-1600-08 TCGA-CG-5722-11A-02D-1600-08 Untested Somatic Phase_I WXS none Illumina GAIIx 78d7b4b4-4d1b-42a3-9051-3b84a0b371c4 f209e9fe-c3db-4fe3-bc2f-2f92cee6a331 g.chr13:36046612C>T uc001uvb.2 + 41 6730 c.6524C>T c.(6523-6525)ACG>ATG p.T2175M NBEA_uc010abi.2_Missense_Mutation_p.T831M|NBEA_uc010tee.1_Translation_Start_Site NM_015678 NP_056493 Q8NFP9 NBEA_HUMAN neurobeachin 2175 cytosol|endomembrane system|plasma membrane|trans-Golgi network protein binding ovary(9)|large_intestine(2) 11 Breast(139;0.0141)|Lung SC(185;0.0548)|Prostate(109;0.207) all cancers(112;1.93e-08)|Epithelial(112;1.62e-07)|BRCA - Breast invasive adenocarcinoma(63;0.00033)|OV - Ovarian serous cystadenocarcinoma(117;0.00109)|KIRC - Kidney renal clear cell carcinoma(186;0.00575)|Kidney(163;0.00656)|GBM - Glioblastoma multiforme(144;0.191)|Lung(94;0.199) TCCATCACCACGACAGAAATC 0.532000 SYNE2 23224 broad.mit.edu 37 14 64449413 64449413 + Missense_Mutation SNP C C G TCGA-CG-5722-01A-21D-1600-08 TCGA-CG-5722-11A-02D-1600-08 Untested Somatic Phase_I WXS none Illumina GAIIx 78d7b4b4-4d1b-42a3-9051-3b84a0b371c4 f209e9fe-c3db-4fe3-bc2f-2f92cee6a331 g.chr14:64449413C>G uc001xgm.2 + 17 2132 c.1902C>G c.(1900-1902)TTC>TTG p.F634L SYNE2_uc001xgl.2_Missense_Mutation_p.F634L NM_015180 NP_055995 Q8WXH0 SYNE2_HUMAN spectrin repeat containing, nuclear envelope 2 634 Cytoplasmic (Potential). centrosome localization|cytoskeletal anchoring at nuclear membrane|nuclear migration along microfilament|positive regulation of cell migration cytoskeleton|filopodium membrane|focal adhesion|integral to membrane|lamellipodium membrane|mitochondrial part|nuclear outer membrane|nucleoplasm|sarcoplasmic reticulum membrane|SUN-KASH complex|Z disc actin binding|protein binding ovary(8)|breast(4)|central_nervous_system(1)|pancreas(1) 14 all cancers(60;0.00153)|OV - Ovarian serous cystadenocarcinoma(108;0.00444)|BRCA - Breast invasive adenocarcinoma(234;0.0681) CAGGAAATTTCTTAGTCGAAG 0.378000 SIPA1L1 26037 broad.mit.edu 37 14 72139105 72139105 + Missense_Mutation SNP G G A TCGA-CG-5722-01A-21D-1600-08 TCGA-CG-5722-11A-02D-1600-08 Untested Somatic Phase_I WXS none Illumina GAIIx 78d7b4b4-4d1b-42a3-9051-3b84a0b371c4 f209e9fe-c3db-4fe3-bc2f-2f92cee6a331 g.chr14:72139105G>A uc001xms.2 + 9 3218 c.2870G>A c.(2869-2871)CGA>CAA p.R957Q SIPA1L1_uc001xmt.2_Missense_Mutation_p.R957Q|SIPA1L1_uc001xmu.2_Missense_Mutation_p.R957Q|SIPA1L1_uc001xmv.2_Missense_Mutation_p.R957Q|SIPA1L1_uc010ttm.1_Missense_Mutation_p.R432Q NM_015556 NP_056371 O43166 SI1L1_HUMAN signal-induced proliferation-associated 1 like 957 actin cytoskeleton reorganization|activation of Rap GTPase activity|regulation of dendritic spine morphogenesis cell junction|cytoplasm|dendritic spine|postsynaptic density|postsynaptic membrane|synaptosome GTPase activator activity ovary(3)|breast(1) 4 all cancers(60;0.00169)|BRCA - Breast invasive adenocarcinoma(234;0.00912)|OV - Ovarian serous cystadenocarcinoma(108;0.0109) ATGACTCTGCGAAGAAATGGG 0.483000 SLC12A6 9990 broad.mit.edu 37 15 34528245 34528245 + Silent SNP T T C TCGA-CG-5722-01A-21D-1600-08 TCGA-CG-5722-11A-02D-1600-08 Untested Somatic Phase_I WXS none Illumina GAIIx 78d7b4b4-4d1b-42a3-9051-3b84a0b371c4 f209e9fe-c3db-4fe3-bc2f-2f92cee6a331 g.chr15:34528245T>C uc001zhw.2 - 23 3362 c.3198A>G c.(3196-3198)GAA>GAG p.E1066E SLC12A6_uc001zhv.2_Silent_p.E1015E|SLC12A6_uc001zhx.2_Silent_p.E1051E|SLC12A6_uc001zhy.2_RNA|SLC12A6_uc001zhz.2_RNA|SLC12A6_uc001zia.2_Silent_p.E1007E|SLC12A6_uc001zib.2_Silent_p.E1057E|SLC12A6_uc001zic.2_Silent_p.E1066E|SLC12A6_uc010bau.2_Silent_p.E1066E|SLC12A6_uc001zid.2_Silent_p.E1007E|SLC12A6_uc001zht.2_RNA|SLC12A6_uc001zhu.2_Silent_p.E878E NM_133647 NP_598408 Q9UHW9 S12A6_HUMAN solute carrier family 12, member 6 isoform a 1066 Cytoplasmic (Potential). angiogenesis|cellular hypotonic salinity response|potassium ion transport|sodium ion transport basolateral plasma membrane|integral to membrane potassium:chloride symporter activity central_nervous_system(5)|ovary(1)|skin(1) 7 all_lung(180;2.78e-08) all cancers(64;3.43e-17)|GBM - Glioblastoma multiforme(113;2.6e-07)|BRCA - Breast invasive adenocarcinoma(123;0.0301) Potassium Chloride(DB00761) CCTGGAATCCTTCCATTGACT 0.453000 NOP10 55505 broad.mit.edu 37 15 34634268 34634268 + Silent SNP A A G TCGA-CG-5722-01A-21D-1600-08 TCGA-CG-5722-11A-02D-1600-08 Untested Somatic Phase_I WXS none Illumina GAIIx 78d7b4b4-4d1b-42a3-9051-3b84a0b371c4 f209e9fe-c3db-4fe3-bc2f-2f92cee6a331 g.chr15:34634268A>G uc001zie.1 - 2 184 c.96T>C c.(94-96)CCT>CCC p.P32P C15orf55_uc010ucc.1_5'Flank|C15orf55_uc010ucd.1_5'Flank NM_018648 NP_061118 Q9NPE3 NOP10_HUMAN nucleolar protein family A, member 3 32 pseudouridine synthesis|rRNA processing Cajal body|nucleolus|small nucleolar ribonucleoprotein complex protein binding 0 AGAACCGAGCAGGATGGGCTG 0.537000 GJD2 57369 broad.mit.edu 37 15 35045227 35045227 + Nonsense_Mutation SNP G G A TCGA-CG-5722-01A-21D-1600-08 TCGA-CG-5722-11A-02D-1600-08 Untested Somatic Phase_I WXS none Illumina GAIIx 78d7b4b4-4d1b-42a3-9051-3b84a0b371c4 f209e9fe-c3db-4fe3-bc2f-2f92cee6a331 g.chr15:35045227G>A uc001zis.1 - 2 418 c.418C>T c.(418-420)CGA>TGA p.R140* uc001zit.1_5'Flank NM_020660 NP_065711 Q9UKL4 CXD2_HUMAN gap junction protein, delta 2, 36kDa 140 Cytoplasmic (Potential). synaptic transmission connexon complex|integral to membrane gap junction channel activity 0 all_lung(180;9.67e-07) all cancers(64;2.75e-18)|GBM - Glioblastoma multiforme(113;1.9e-07)|BRCA - Breast invasive adenocarcinoma(123;0.0156) TTATCTTCTCGTTTGCCCCCA 0.532000 MYO9A 4649 broad.mit.edu 37 15 72227776 72227776 + Nonsense_Mutation SNP T T A TCGA-CG-5722-01A-21D-1600-08 TCGA-CG-5722-11A-02D-1600-08 Untested Somatic Phase_I WXS none Illumina GAIIx 78d7b4b4-4d1b-42a3-9051-3b84a0b371c4 f209e9fe-c3db-4fe3-bc2f-2f92cee6a331 g.chr15:72227776T>A uc002atl.3 - 17 2901 c.2428A>T c.(2428-2430)AGA>TGA p.R810* MYO9A_uc010biq.2_Nonsense_Mutation_p.R430*|MYO9A_uc002atn.1_Nonsense_Mutation_p.R791* NM_006901 NP_008832 B2RTY4 MYO9A_HUMAN myosin IXA 810 regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction|visual perception cytosol|integral to membrane|unconventional myosin complex actin binding|ATP binding|GTPase activator activity|metal ion binding|motor activity ovary(1)|pancreas(1)|skin(1) 3 CTTGATAGTCTGCTCTGGCGA 0.398000 ADAMTSL3 57188 broad.mit.edu 37 15 84690187 84690187 + Nonsense_Mutation SNP G G A TCGA-CG-5722-01A-21D-1600-08 TCGA-CG-5722-11A-02D-1600-08 Untested Somatic Phase_I WXS none Illumina GAIIx 78d7b4b4-4d1b-42a3-9051-3b84a0b371c4 f209e9fe-c3db-4fe3-bc2f-2f92cee6a331 g.chr15:84690187G>A uc002bjz.3 + 26 4523 c.4299G>A c.(4297-4299)TGG>TGA p.W1433* ADAMTSL3_uc010bmt.1_Nonsense_Mutation_p.W1433*|ADAMTSL3_uc010bmu.1_Nonsense_Mutation_p.W1433* NM_207517 NP_997400 P82987 ATL3_HUMAN ADAMTS-like 3 precursor 1433 TSP type-1 8. proteinaceous extracellular matrix metallopeptidase activity|zinc ion binding ovary(6)|central_nervous_system(5)|lung(5)|large_intestine(4)|breast(3)|skin(2)|kidney(1)|pancreas(1) 27 BRCA - Breast invasive adenocarcinoma(143;0.211) CTGGTAACTGGTCACATTGTT 0.512000 CHTF18 63922 broad.mit.edu 37 16 844151 844151 + Missense_Mutation SNP C C T TCGA-CG-5722-01A-21D-1600-08 TCGA-CG-5722-11A-02D-1600-08 Untested Somatic Phase_I WXS none Illumina GAIIx 78d7b4b4-4d1b-42a3-9051-3b84a0b371c4 f209e9fe-c3db-4fe3-bc2f-2f92cee6a331 g.chr16:844151C>T uc002cke.3 + 15 1963 c.1900C>T c.(1900-1902)CGT>TGT p.R634C CHTF18_uc002ckf.3_Missense_Mutation_p.R662C|CHTF18_uc010brf.2_Missense_Mutation_p.R216C|CHTF18_uc002ckg.3_Missense_Mutation_p.R152C NM_022092 NP_071375 Q8WVB6 CTF18_HUMAN CTF18, chromosome transmission fidelity factor 634 cell cycle|DNA replication nucleus ATP binding|DNA binding|nucleoside-triphosphatase activity kidney(1) 1 Hepatocellular(780;0.00335) GCGATTCTACCGTGTCCTGCA 0.682000 FLYWCH2 114984 broad.mit.edu 37 16 2946611 2946611 + Missense_Mutation SNP T T G TCGA-CG-5722-01A-21D-1600-08 TCGA-CG-5722-11A-02D-1600-08 Untested Somatic Phase_I WXS none Illumina GAIIx 78d7b4b4-4d1b-42a3-9051-3b84a0b371c4 f209e9fe-c3db-4fe3-bc2f-2f92cee6a331 g.chr16:2946611T>G uc002csa.2 + 3 532 c.161T>G c.(160-162)GTG>GGG p.V54G FLYWCH2_uc010uwj.1_Missense_Mutation_p.V54G|FLYWCH2_uc010uwk.1_Missense_Mutation_p.V54G NM_138439 NP_612448 Q96CP2 FWCH2_HUMAN FLYWCH family member 2 54 0 AGCACCAAGGTGGCGGGGGCC 0.667000 GRIN2A 2903 broad.mit.edu 37 16 10274134 10274134 + Silent SNP G G A TCGA-CG-5722-01A-21D-1600-08 TCGA-CG-5722-11A-02D-1600-08 Untested Somatic Phase_I WXS none Illumina GAIIx 78d7b4b4-4d1b-42a3-9051-3b84a0b371c4 f209e9fe-c3db-4fe3-bc2f-2f92cee6a331 g.chr16:10274134G>A uc002czo.3 - 2 683 c.135C>T c.(133-135)GAC>GAT p.D45D GRIN2A_uc010uym.1_Silent_p.D45D|GRIN2A_uc002czr.3_Silent_p.D45D|GRIN2A_uc010buk.2_Silent_p.D45D NM_001134407 NP_001127879 Q12879 NMDE1_HUMAN N-methyl-D-aspartate receptor subunit 2A isoform 45 Extracellular (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) GCTCTGTCACGTCGTGGCTGT 0.692000 NOD2 64127 broad.mit.edu 37 16 50750497 50750497 + Splice_Site SNP G G C TCGA-CG-5722-01A-21D-1600-08 TCGA-CG-5722-11A-02D-1600-08 Untested Somatic Phase_I WXS none Illumina GAIIx 78d7b4b4-4d1b-42a3-9051-3b84a0b371c4 f209e9fe-c3db-4fe3-bc2f-2f92cee6a331 g.chr16:50750497G>C uc002egm.1 + 5 2568 c.2463_splice c.e5-1 p.Y821_splice NOD2_uc010cbl.1_Splice_Site_p.Y599_splice|NOD2_uc010cbm.1_Splice_Site_p.Y599_splice|NOD2_uc010cbn.1_Intron|NOD2_uc010cbo.1_Intron|NOD2_uc010cbp.1_Intron|NOD2_uc010cbq.1_Splice_Site|NOD2_uc010cbr.1_Intron NM_022162 NP_071445 Q9HC29 NOD2_HUMAN nucleotide-binding oligomerization domain activation of MAPK activity involved in innate immune response|cytokine production involved in immune response|detection of bacterium|detection of muramyl dipeptide|JNK cascade|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|negative regulation of macrophage apoptosis|nucleotide-binding oligomerization domain containing 2 signaling pathway|positive regulation of B cell activation|positive regulation of dendritic cell antigen processing and presentation|positive regulation of epithelial cell proliferation|positive regulation of ERK1 and ERK2 cascade|positive regulation of gamma-delta T cell activation|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of interleukin-1 beta secretion|positive regulation of interleukin-10 production|positive regulation of interleukin-17 production|positive regulation of interleukin-6 production|positive regulation of JNK cascade|positive regulation of NF-kappaB transcription factor activity|positive regulation of nitric-oxide synthase biosynthetic process|positive regulation of Notch signaling pathway|positive regulation of phosphatidylinositol 3-kinase activity|positive regulation of prostaglandin-E synthase activity|positive regulation of prostaglandin-endoperoxide synthase activity|positive regulation of stress-activated MAPK cascade|positive regulation of tumor necrosis factor production|positive regulation of type 2 immune response|protein oligomerization|stress-activated MAPK cascade|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway cell surface|cytosol|plasma membrane|vesicle ATP binding|CARD domain binding|muramyl dipeptide binding|protein kinase binding ovary(3)|skin(1) 4 all_cancers(37;0.0156) TGTCTCTTTAGTTTGCGCGAT 0.413000 IRX5 10265 broad.mit.edu 37 16 54967637 54967637 + Missense_Mutation SNP C C T TCGA-CG-5722-01A-21D-1600-08 TCGA-CG-5722-11A-02D-1600-08 Untested Somatic Phase_I WXS none Illumina GAIIx 78d7b4b4-4d1b-42a3-9051-3b84a0b371c4 f209e9fe-c3db-4fe3-bc2f-2f92cee6a331 g.chr16:54967637C>T uc002ehv.2 + 3 1304 c.1304C>T c.(1303-1305)CCG>CTG p.P435L IRX5_uc002ehw.2_Missense_Mutation_p.P369L NM_005853 NP_005844 P78411 IRX5_HUMAN iroquois homeobox protein 5 435 response to stimulus|visual perception nucleus sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|vitamin D binding 0 ACAACCGGTCCGGGGTCTCAT 0.592000 CAMTA2 23125 broad.mit.edu 37 17 4875783 4875783 + Missense_Mutation SNP G G A TCGA-CG-5722-01A-21D-1600-08 TCGA-CG-5722-11A-02D-1600-08 Untested Somatic Phase_I WXS none Illumina GAIIx 78d7b4b4-4d1b-42a3-9051-3b84a0b371c4 f209e9fe-c3db-4fe3-bc2f-2f92cee6a331 g.chr17:4875783G>A uc002gah.1 - 16 2660 c.2552C>T c.(2551-2553)TCC>TTC p.S851F CAMTA2_uc010cku.1_Missense_Mutation_p.S874F|CAMTA2_uc002gag.1_Missense_Mutation_p.S850F|CAMTA2_uc002gai.1_Missense_Mutation_p.S853F|CAMTA2_uc010ckv.1_Missense_Mutation_p.S498F NM_015099 NP_055914 O94983 CMTA2_HUMAN calmodulin binding transcription activator 2 851 cardiac muscle hypertrophy in response to stress|positive regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent nucleus calmodulin binding|chromatin binding|histone deacetylase binding|transcription factor binding ovary(1) 1 TGACGTGACGGAAAAGGTGCC 0.642000 DLG4 1742 broad.mit.edu 37 17 7106879 7106879 + Silent SNP C C T TCGA-CG-5722-01A-21D-1600-08 TCGA-CG-5722-11A-02D-1600-08 Untested Somatic Phase_I WXS none Illumina GAIIx 78d7b4b4-4d1b-42a3-9051-3b84a0b371c4 f209e9fe-c3db-4fe3-bc2f-2f92cee6a331 g.chr17:7106879C>T uc002get.3 - 8 1699 c.498G>A c.(496-498)GTG>GTA p.V166V DLG4_uc010vtm.1_RNA|DLG4_uc010vtn.1_Silent_p.V63V|DLG4_uc010cly.2_Silent_p.V120V|DLG4_uc010vto.1_Silent_p.V163V|DLG4_uc002geu.2_Silent_p.V120V NM_001365 NP_001356 P78352 DLG4_HUMAN post-synaptic density protein 95 isoform 1 123 PDZ 1. axon guidance|learning|protein complex assembly|protein localization to synapse|signal transduction|synaptic transmission cell junction|cortical cytoskeleton|endocytic vesicle membrane|neuron spine|postsynaptic density|postsynaptic membrane|synaptosome protein binding|protein C-terminus binding ovary(1)|breast(1) 2 CGCGCACGTCCACTTCATTTA 0.632000 ARHGEF15 22899 broad.mit.edu 37 17 8216418 8216418 + Silent SNP C C T TCGA-CG-5722-01A-21D-1600-08 TCGA-CG-5722-11A-02D-1600-08 Untested Somatic Phase_I WXS none Illumina GAIIx 78d7b4b4-4d1b-42a3-9051-3b84a0b371c4 f209e9fe-c3db-4fe3-bc2f-2f92cee6a331 g.chr17:8216418C>T uc002glc.2 + 3 901 c.780C>T c.(778-780)GCC>GCT p.A260A ARHGEF15_uc002glb.1_3'UTR|ARHGEF15_uc002gld.2_Silent_p.A260A|ARHGEF15_uc010vuw.1_Intron NM_173728 NP_776089 O94989 ARHGF_HUMAN Rho guanine exchange factor 15 260 negative regulation of synapse maturation|regulation of Rho protein signal transduction dendrite|intracellular GTPase activator activity|Rho guanyl-nucleotide exchange factor activity ovary(2)|skin(1) 3 GTCACCCTGCCGTTGTCCTCA 0.657000 ARHGEF15 22899 broad.mit.edu 37 17 8219149 8219149 + Missense_Mutation SNP G G A TCGA-CG-5722-01A-21D-1600-08 TCGA-CG-5722-11A-02D-1600-08 Untested Somatic Phase_I WXS none Illumina GAIIx 78d7b4b4-4d1b-42a3-9051-3b84a0b371c4 f209e9fe-c3db-4fe3-bc2f-2f92cee6a331 g.chr17:8219149G>A uc002glc.2 + 8 1619 c.1498G>A c.(1498-1500)GCT>ACT p.A500T ARHGEF15_uc002gld.2_Missense_Mutation_p.A500T|ARHGEF15_uc010vuw.1_Missense_Mutation_p.A389T NM_173728 NP_776089 O94989 ARHGF_HUMAN Rho guanine exchange factor 15 500 DH. negative regulation of synapse maturation|regulation of Rho protein signal transduction dendrite|intracellular GTPase activator activity|Rho guanyl-nucleotide exchange factor activity ovary(2)|skin(1) 3 GCATGCCCACGCTGTGGGGCC 0.582000 MYH10 4628 broad.mit.edu 37 17 8380351 8380351 + Missense_Mutation SNP C C T TCGA-CG-5722-01A-21D-1600-08 TCGA-CG-5722-11A-02D-1600-08 Untested Somatic Phase_I WXS none Illumina GAIIx 78d7b4b4-4d1b-42a3-9051-3b84a0b371c4 f209e9fe-c3db-4fe3-bc2f-2f92cee6a331 g.chr17:8380351C>T uc002gll.2 - 40 5725 c.5629G>A c.(5629-5631)GCT>ACT p.A1877T MYH10_uc002glm.2_Missense_Mutation_p.A1908T|MYH10_uc010cnx.2_Missense_Mutation_p.A1886T NM_005964 NP_005955 P35580 MYH10_HUMAN myosin, heavy polypeptide 10, non-muscle 1877 Potential. actin filament-based movement|axon guidance|cytokinesis after mitosis|regulation of cell shape cell cortex|cleavage furrow|midbody|myosin complex|stress fiber actin filament binding|actin-dependent ATPase activity|ADP binding|ATP binding|calmodulin binding|microfilament motor activity ovary(2) 2 TTCATCCGAGCGTTGGCCTTC 0.567000 ALKBH5 54890 broad.mit.edu 37 17 18110185 18110185 + Missense_Mutation SNP C C T TCGA-CG-5722-01A-21D-1600-08 TCGA-CG-5722-11A-02D-1600-08 Untested Somatic Phase_I WXS none Illumina GAIIx 78d7b4b4-4d1b-42a3-9051-3b84a0b371c4 f209e9fe-c3db-4fe3-bc2f-2f92cee6a331 g.chr17:18110185C>T uc010cpw.2 + 3 1599 c.908C>T c.(907-909)CCA>CTA p.P303L ALKBH5_uc010cpx.2_RNA NM_017758 NP_060228 Q6P6C2 ALKB5_HUMAN alkB, alkylation repair homolog 5 303 integral to membrane metal ion binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen 0 all_neural(463;0.228) TCCGTGTTACCACCCAGCTAT 0.572000 PIGS 94005 broad.mit.edu 37 17 26890883 26890883 + Missense_Mutation SNP C C T TCGA-CG-5722-01A-21D-1600-08 TCGA-CG-5722-11A-02D-1600-08 Untested Somatic Phase_I WXS none Illumina GAIIx 78d7b4b4-4d1b-42a3-9051-3b84a0b371c4 f209e9fe-c3db-4fe3-bc2f-2f92cee6a331 g.chr17:26890883C>T uc002hbo.2 - 4 702 c.329G>A c.(328-330)AGG>AAG p.R110K PIGS_uc002hbn.2_Missense_Mutation_p.R102K|PIGS_uc010wap.1_Missense_Mutation_p.R49K NM_033198 NP_149975 Q96S52 PIGS_HUMAN phosphatidylinositol glycan anchor biosynthesis, 110 Lumenal (Potential). attachment of GPI anchor to protein|C-terminal protein lipidation GPI-anchor transamidase complex protein binding breast(2)|urinary_tract(1)|kidney(1) 4 Lung NSC(42;0.00431) GTCCAAAGCCCTCCGATAGGC 0.498000 LRRC37B 114659 broad.mit.edu 37 17 30349784 30349784 + Missense_Mutation SNP A A G TCGA-CG-5722-01A-21D-1600-08 TCGA-CG-5722-11A-02D-1600-08 Untested Somatic Phase_I WXS none Illumina GAIIx 78d7b4b4-4d1b-42a3-9051-3b84a0b371c4 f209e9fe-c3db-4fe3-bc2f-2f92cee6a331 g.chr17:30349784A>G uc002hgu.2 + 1 1630 c.1619A>G c.(1618-1620)CAG>CGG p.Q540R LRRC37B_uc010wbx.1_Missense_Mutation_p.Q458R|LRRC37B_uc010csu.2_Missense_Mutation_p.Q540R NM_052888 NP_443120 Q96QE4 LR37B_HUMAN leucine rich repeat containing 37B precursor 540 Extracellular (Potential). integral to membrane upper_aerodigestive_tract(1)|ovary(1) 2 Myeloproliferative disorder(56;0.0255)|all_hematologic(16;0.111)|Ovarian(249;0.182)|Breast(31;0.244) AGCCCAAAGCAGAGGCTCCGC 0.537000 ACE 1636 broad.mit.edu 37 17 61568741 61568741 + Missense_Mutation SNP C C T TCGA-CG-5722-01A-21D-1600-08 TCGA-CG-5722-11A-02D-1600-08 Untested Somatic Phase_I WXS none Illumina GAIIx 78d7b4b4-4d1b-42a3-9051-3b84a0b371c4 f209e9fe-c3db-4fe3-bc2f-2f92cee6a331 g.chr17:61568741C>T uc002jau.1 + 19 2933 c.2911C>T c.(2911-2913)CGG>TGG p.R971W ACE_uc002jav.1_Missense_Mutation_p.R397W|ACE_uc010ddv.1_Missense_Mutation_p.R198W|ACE_uc010wpj.1_Missense_Mutation_p.R397W|ACE_uc002jaw.1_RNA|ACE_uc010wpk.1_Missense_Mutation_p.R217W NM_000789 NP_000780 P12821 ACE_HUMAN angiotensin I converting enzyme 1 isoform 1 971 Extracellular (Potential).|Peptidase M2 2. arachidonic acid secretion|hormone catabolic process|kidney development|peptide catabolic process|regulation of smooth muscle cell migration endosome|external side of plasma membrane|extracellular space|integral to membrane|membrane fraction|plasma membrane actin binding|bradykinin receptor binding|carboxypeptidase activity|chloride ion binding|drug binding|metallopeptidase activity|peptidyl-dipeptidase activity|zinc ion binding ovary(2)|upper_aerodigestive_tract(1)|pancreas(1) 4 Benazepril(DB00542)|Captopril(DB01197)|Deserpidine(DB01089)|Enalapril(DB00584)|Fosinopril(DB00492)|Lisinopril(DB00722)|Moexipril(DB00691)|Perindopril(DB00790)|Quinapril(DB00881)|Ramipril(DB00178)|Rescinnamine(DB01180)|Spirapril(DB01348)|Trandolapril(DB00519) CAAGGACTTCCGGTACATCCA 0.607000 ZFP161 7541 broad.mit.edu 37 18 5291265 5291265 + Silent SNP G G A TCGA-CG-5722-01A-21D-1600-08 TCGA-CG-5722-11A-02D-1600-08 Untested Somatic Phase_I WXS none Illumina GAIIx 78d7b4b4-4d1b-42a3-9051-3b84a0b371c4 f209e9fe-c3db-4fe3-bc2f-2f92cee6a331 g.chr18:5291265G>A uc002kmq.2 - 4 1103 c.942C>T c.(940-942)TTC>TTT p.F314F ZFP161_uc002kmr.2_Silent_p.F314F|ZFP161_uc010dkp.2_Silent_p.F314F NM_003409 NP_003400 O43829 ZF161_HUMAN zinc finger protein 161 homolog 314 C2H2-type 2. negative regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent nucleus DNA binding|zinc ion binding ovary(1) 1 CCTGTGTGGTGAAACCTTTTG 0.473000 NFATC1 4772 broad.mit.edu 37 18 77246792 77246792 + Silent SNP G G A TCGA-CG-5722-01A-21D-1600-08 TCGA-CG-5722-11A-02D-1600-08 Untested Somatic Phase_I WXS none Illumina GAIIx 78d7b4b4-4d1b-42a3-9051-3b84a0b371c4 f209e9fe-c3db-4fe3-bc2f-2f92cee6a331 g.chr18:77246792G>A uc010xfg.1 + 9 3090 c.2637G>A c.(2635-2637)CCG>CCA p.P879P NFATC1_uc002lnd.2_Intron|NFATC1_uc002lne.2_Intron|NFATC1_uc010xfh.1_Intron|NFATC1_uc010xfj.1_Silent_p.P407P|NFATC1_uc002lnf.2_Silent_p.P866P|NFATC1_uc002lng.2_Intron|NFATC1_uc010xfk.1_Intron NM_006162 NP_006153 O95644 NFAC1_HUMAN nuclear factor of activated T-cells, cytosolic 879 Trans-activation domain B (TAD-B). intracellular signal transduction|positive regulation of transcription, DNA-dependent|transcription from RNA polymerase II promoter cytoplasm|nucleus FK506 binding|protein binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding large_intestine(1)|ovary(1) 2 Esophageal squamous(42;0.0157)|Melanoma(33;0.144) OV - Ovarian serous cystadenocarcinoma(15;3.73e-07)|BRCA - Breast invasive adenocarcinoma(31;0.0257) AGCACCTGCCGTCCACGGTCC 0.706000 FEM1A 55527 broad.mit.edu 37 19 4793005 4793005 + Missense_Mutation SNP G G A TCGA-CG-5722-01A-21D-1600-08 TCGA-CG-5722-11A-02D-1600-08 Untested Somatic Phase_I WXS none Illumina GAIIx 78d7b4b4-4d1b-42a3-9051-3b84a0b371c4 f209e9fe-c3db-4fe3-bc2f-2f92cee6a331 g.chr19:4793005G>A uc002mbf.2 + 1 1278 c.1139G>A c.(1138-1140)CGC>CAC p.R380H uc002mbg.1_RNA NM_018708 NP_061178 Q9BSK4 FEM1A_HUMAN fem-1 homolog a 380 regulation of ubiquitin-protein ligase activity cytoplasm binding|ubiquitin-protein ligase activity 0 Hepatocellular(1079;0.137) UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.0139) ATCCGGGAGCGCATCCTCGGT 0.617000 ZNRF4 148066 broad.mit.edu 37 19 5456204 5456204 + Silent SNP G G A TCGA-CG-5722-01A-21D-1600-08 TCGA-CG-5722-11A-02D-1600-08 Untested Somatic Phase_I WXS none Illumina GAIIx 78d7b4b4-4d1b-42a3-9051-3b84a0b371c4 f209e9fe-c3db-4fe3-bc2f-2f92cee6a331 g.chr19:5456204G>A uc002mca.3 + 1 779 c.702G>A c.(700-702)GCG>GCA p.A234A NM_181710 NP_859061 Q8WWF5 ZNRF4_HUMAN zinc and ring finger 4 precursor 234 Extracellular (Potential). integral to membrane zinc ion binding large_intestine(2) 2 UCEC - Uterine corpus endometrioid carcinoma (162;0.0002) CGGCCCACGCGCTGCTCCTGC 0.682000 PRAM1 84106 broad.mit.edu 37 19 8564247 8564247 + Missense_Mutation SNP C C T TCGA-CG-5722-01A-21D-1600-08 TCGA-CG-5722-11A-02D-1600-08 Untested Somatic Phase_I WXS none Illumina GAIIx 78d7b4b4-4d1b-42a3-9051-3b84a0b371c4 f209e9fe-c3db-4fe3-bc2f-2f92cee6a331 g.chr19:8564247C>T uc002mkd.2 - 2 465 c.445G>A c.(445-447)GGT>AGT p.G149S PRAM1_uc002mkc.2_Missense_Mutation_p.G149S NM_032152 NP_115528 Q96QH2 PRAM_HUMAN PML-RARA regulated adaptor molecule 1 197 Pro-rich. lipid binding|protein binding 0 GGGGCCTCACCGACCTCAGGC 0.662000 ZNF177 7730 broad.mit.edu 37 19 9492250 9492250 + Missense_Mutation SNP A A G TCGA-CG-5722-01A-21D-1600-08 TCGA-CG-5722-11A-02D-1600-08 Untested Somatic Phase_I WXS none Illumina GAIIx 78d7b4b4-4d1b-42a3-9051-3b84a0b371c4 f209e9fe-c3db-4fe3-bc2f-2f92cee6a331 g.chr19:9492250A>G uc002mli.2 + 12 1426 c.763A>G c.(763-765)AAG>GAG p.K255E ZNF177_uc002mlj.2_Missense_Mutation_p.K205E|ZNF177_uc002mlk.2_Missense_Mutation_p.K255E NM_003451 NP_003442 Q13360 ZN177_HUMAN zinc finger protein 177 255 C2H2-type 5. negative regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent nucleus DNA binding|zinc ion binding ovary(1) 1 TATTGTGCACAAGAGAACTCA 0.468000 CYP4F2 8529 broad.mit.edu 37 19 15989736 15989736 + Missense_Mutation SNP C C T rs146148233 TCGA-CG-5722-01A-21D-1600-08 TCGA-CG-5722-11A-02D-1600-08 Untested Somatic Phase_I WXS none Illumina GAIIx 78d7b4b4-4d1b-42a3-9051-3b84a0b371c4 f209e9fe-c3db-4fe3-bc2f-2f92cee6a331 g.chr19:15989736C>T uc002nbs.1 - 13 1458 c.1408G>A c.(1408-1410)GGG>AGG p.G470R CYP4F2_uc010xot.1_Missense_Mutation_p.G321R NM_001082 NP_001073 P78329 CP4F2_HUMAN cytochrome P450, family 4, subfamily F, 470 leukotriene metabolic process|long-chain fatty acid metabolic process|very long-chain fatty acid metabolic process|xenobiotic metabolic process endoplasmic reticulum membrane|microsome alkane 1-monooxygenase activity|electron carrier activity|heme binding|leukotriene-B4 20-monooxygenase activity|oxygen binding|protein binding ovary(1)|skin(1) 2 AACGTCTGCCCGATGCAGTTC 0.672000 TSHZ3 57616 broad.mit.edu 37 19 31769496 31769496 + Silent SNP G G A TCGA-CG-5722-01A-21D-1600-08 TCGA-CG-5722-11A-02D-1600-08 Untested Somatic Phase_I WXS none Illumina GAIIx 78d7b4b4-4d1b-42a3-9051-3b84a0b371c4 f209e9fe-c3db-4fe3-bc2f-2f92cee6a331 g.chr19:31769496G>A uc002nsy.3 - 2 1268 c.1203C>T c.(1201-1203)CTC>CTT p.L401L NM_020856 NP_065907 Q63HK5 TSH3_HUMAN zinc finger protein 537 401 C2H2-type 3; atypical. negative regulation of transcription, DNA-dependent|regulation of respiratory gaseous exchange by neurological system process growth cone|nucleus chromatin binding|protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding ovary(4)|skin(2)|pancreas(1)|lung(1) 8 Esophageal squamous(110;0.226) TGTGGGCAGTGAGCTCCTGCA 0.557000 ZNF529 57711 broad.mit.edu 37 19 37039085 37039085 + Missense_Mutation SNP G G T TCGA-CG-5722-01A-21D-1600-08 TCGA-CG-5722-11A-02D-1600-08 Untested Somatic Phase_I WXS none Illumina GAIIx 78d7b4b4-4d1b-42a3-9051-3b84a0b371c4 f209e9fe-c3db-4fe3-bc2f-2f92cee6a331 g.chr19:37039085G>T uc002oeh.3 - 5 577 c.375C>A c.(373-375)AGC>AGA p.S125R ZNF529_uc010xth.1_Missense_Mutation_p.S125R|ZNF529_uc010xti.1_Missense_Mutation_p.S107R|ZNF529_uc002oeg.3_Missense_Mutation_p.S20R NM_020951 NP_066002 Q6P280 ZN529_HUMAN zinc finger protein 529 isoform a 92 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding breast(1) 1 Esophageal squamous(110;0.198) TCTTGCTTTTGCTTTGCCAGT 0.373000 ZNF229 7772 broad.mit.edu 37 19 44933774 44933774 + Silent SNP G G C TCGA-CG-5722-01A-21D-1600-08 TCGA-CG-5722-11A-02D-1600-08 Untested Somatic Phase_I WXS none Illumina GAIIx 78d7b4b4-4d1b-42a3-9051-3b84a0b371c4 f209e9fe-c3db-4fe3-bc2f-2f92cee6a331 g.chr19:44933774G>C uc002oze.1 - 6 1616 c.1182C>G c.(1180-1182)GTC>GTG p.V394V ZNF229_uc010ejk.1_Silent_p.V48V|ZNF229_uc010ejl.1_Silent_p.V388V NM_014518 NP_055333 Q9UJW7 ZN229_HUMAN zinc finger protein 229 394 C2H2-type 3. regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding skin(2)|ovary(1)|pancreas(1) 4 Prostate(69;0.0352) CCCTCTGATGGACAAGCAGGT 0.488000 KLK1 3816 broad.mit.edu 37 19 51322566 51322566 + Nonsense_Mutation SNP G G A TCGA-CG-5722-01A-21D-1600-08 TCGA-CG-5722-11A-02D-1600-08 Untested Somatic Phase_I WXS none Illumina GAIIx 78d7b4b4-4d1b-42a3-9051-3b84a0b371c4 f209e9fe-c3db-4fe3-bc2f-2f92cee6a331 g.chr19:51322566G>A uc002ptk.1 - 5 712 c.673C>T c.(673-675)CAA>TAA p.Q225* KLK1_uc010ycg.1_RNA NM_002257 NP_002248 P06870 KLK1_HUMAN kallikrein 1 preproprotein 225 Peptidase S1. proteolysis nucleus serine-type endopeptidase activity 0 all_neural(266;0.0199) OV - Ovarian serous cystadenocarcinoma(262;0.00224)|GBM - Glioblastoma multiforme(134;0.00399) Alteplase(DB00009)|Anistreplase(DB00029)|Reteplase(DB00015)|Tenecteplase(DB00031) GTGACACCTTGGAGCACACCA 0.582000 C19orf18 147685 broad.mit.edu 37 19 58472857 58472857 + Missense_Mutation SNP G G A TCGA-CG-5722-01A-21D-1600-08 TCGA-CG-5722-11A-02D-1600-08 Untested Somatic Phase_I WXS none Illumina GAIIx 78d7b4b4-4d1b-42a3-9051-3b84a0b371c4 f209e9fe-c3db-4fe3-bc2f-2f92cee6a331 g.chr19:58472857G>A uc002qqv.2 - 5 538 c.434C>T c.(433-435)CCG>CTG p.P145L NM_152474 NP_689687 Q8NEA5 CS018_HUMAN hypothetical protein LOC147685 precursor 145 Cytoplasmic (Potential). integral to membrane ovary(1) 1 Colorectal(82;0.000256)|all_neural(62;0.0577)|Breast(46;0.147)|Ovarian(87;0.156) UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.017) TCCTAATAACGGTATCCTGAG 0.453000 NFE2L2 4780 broad.mit.edu 37 2 178096690 178096690 + Missense_Mutation SNP G G T TCGA-CG-5722-01A-21D-1600-08 TCGA-CG-5722-11A-02D-1600-08 Untested Somatic Phase_I WXS none Illumina GAIIx 78d7b4b4-4d1b-42a3-9051-3b84a0b371c4 f209e9fe-c3db-4fe3-bc2f-2f92cee6a331 g.chr2:178096690G>T uc002ulh.3 - 5 1196 c.641C>A c.(640-642)CCA>CAA p.P214Q NFE2L2_uc002ulg.3_Missense_Mutation_p.P198Q|NFE2L2_uc010zfa.1_Missense_Mutation_p.P191Q|NFE2L2_uc002uli.3_Missense_Mutation_p.P198Q NM_006164 NP_006155 Q16236 NF2L2_HUMAN nuclear factor erythroid 2-like 2 isoform 1 214 transcription from RNA polymerase II promoter centrosome|cytosol|nucleus|plasma membrane protein dimerization activity|protein domain specific binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity central_nervous_system(1) 1 Epithelial(96;0.00442)|OV - Ovarian serous cystadenocarcinoma(117;0.00739)|all cancers(119;0.0195)|LUSC - Lung squamous cell carcinoma(2;0.036)|Lung(16;0.0935) TTCTGGACTTGGAACCATGGT 0.338000 Mis NSCLC|HNSCC HNSCC(56;0.16) TTN 7273 broad.mit.edu 37 2 179426117 179426117 + Missense_Mutation SNP G G C TCGA-CG-5722-01A-21D-1600-08 TCGA-CG-5722-11A-02D-1600-08 Untested Somatic Phase_I WXS none Illumina GAIIx 78d7b4b4-4d1b-42a3-9051-3b84a0b371c4 f209e9fe-c3db-4fe3-bc2f-2f92cee6a331 g.chr2:179426117G>C uc010zfg.1 - 275 77262 c.77038C>G c.(77038-77040)CCT>GCT p.P25680A uc002umo.2_Intron|uc002ump.1_Intron|TTN_uc010zfh.1_Missense_Mutation_p.P19375A|TTN_uc010zfi.1_Missense_Mutation_p.P19308A|TTN_uc010zfj.1_Missense_Mutation_p.P19183A NM_133378 NP_596869 Q8WZ42 TITIN_HUMAN titin isoform N2-A 26607 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) TCTCTTGCAGGGACTGGTTCA 0.413000 TTN 7273 broad.mit.edu 37 2 179581972 179581972 + Missense_Mutation SNP G G A TCGA-CG-5722-01A-21D-1600-08 TCGA-CG-5722-11A-02D-1600-08 Untested Somatic Phase_I WXS none Illumina GAIIx 78d7b4b4-4d1b-42a3-9051-3b84a0b371c4 f209e9fe-c3db-4fe3-bc2f-2f92cee6a331 g.chr2:179581972G>A uc010zfg.1 - 85 21981 c.21757C>T c.(21757-21759)CGC>TGC p.R7253C TTN_uc010zfh.1_Intron|TTN_uc010zfi.1_Intron|TTN_uc010zfj.1_Intron|TTN_uc002umz.1_Missense_Mutation_p.R3914C NM_133378 NP_596869 Q8WZ42 TITIN_HUMAN titin isoform N2-A 8180 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) CCTCCAGGGCGAATCTCTCGG 0.458000 PARD3B 117583 broad.mit.edu 37 2 205990415 205990415 + Missense_Mutation SNP C C T TCGA-CG-5722-01A-21D-1600-08 TCGA-CG-5722-11A-02D-1600-08 Untested Somatic Phase_I WXS none Illumina GAIIx 78d7b4b4-4d1b-42a3-9051-3b84a0b371c4 f209e9fe-c3db-4fe3-bc2f-2f92cee6a331 g.chr2:205990415C>T uc002var.1 + 10 1595 c.1388C>T c.(1387-1389)TCG>TTG p.S463L PARD3B_uc010fub.1_Missense_Mutation_p.S463L|PARD3B_uc002vao.1_Missense_Mutation_p.S463L|PARD3B_uc002vap.1_Missense_Mutation_p.S463L|PARD3B_uc002vaq.1_Missense_Mutation_p.S463L NM_152526 NP_689739 Q8TEW8 PAR3L_HUMAN par-3 partitioning defective 3 homolog B isoform 463 PDZ 2. cell cycle|cell division endomembrane system|tight junction skin(2)|ovary(1)|breast(1) 4 all_cancers(1;2.88e-06)|all_epithelial(1;3.23e-06) Epithelial(149;0.0739) GAGACAGCATCGCTGGTCATT 0.488000 SLC16A14 151473 broad.mit.edu 37 2 230910835 230910835 + Missense_Mutation SNP T T C TCGA-CG-5722-01A-21D-1600-08 TCGA-CG-5722-11A-02D-1600-08 Untested Somatic Phase_I WXS none Illumina GAIIx 78d7b4b4-4d1b-42a3-9051-3b84a0b371c4 f209e9fe-c3db-4fe3-bc2f-2f92cee6a331 g.chr2:230910835T>C uc002vqd.1 - 4 1370 c.1007A>G c.(1006-1008)CAC>CGC p.H336R FBXO36_uc010fxi.1_Intron|SLC16A14_uc002vqe.2_Missense_Mutation_p.H336R|SLC16A14_uc002vqf.2_Missense_Mutation_p.H336R NM_152527 NP_689740 Q7RTX9 MOT14_HUMAN solute carrier family 16 (monocarboxylic acid 336 Cytoplasmic (Potential). integral to membrane|plasma membrane symporter activity ovary(4)|skin(2) 6 Renal(207;0.025)|all_hematologic(139;0.122)|all_lung(227;0.149)|Acute lymphoblastic leukemia(138;0.164) Epithelial(121;7.31e-13)|all cancers(144;5.1e-10)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(119;0.00948) TTCTGGGAGGTGAATGAAGGG 0.403000 TOMM34 10953 broad.mit.edu 37 20 43572151 43572151 + Silent SNP C C T TCGA-CG-5722-01A-21D-1600-08 TCGA-CG-5722-11A-02D-1600-08 Untested Somatic Phase_I WXS none Illumina GAIIx 78d7b4b4-4d1b-42a3-9051-3b84a0b371c4 f209e9fe-c3db-4fe3-bc2f-2f92cee6a331 g.chr20:43572151C>T uc002xmy.2 - 6 908 c.768G>A c.(766-768)CTG>CTA p.L256L PABPC1L_uc002xmx.2_Intron|TOMM34_uc002xmz.2_RNA NM_006809 NP_006800 Q15785 TOM34_HUMAN translocase of outer mitochondrial membrane 34 256 TPR 5. protein targeting to mitochondrion integral to membrane|mitochondrial outer membrane heat shock protein binding|signal sequence binding 0 Myeloproliferative disorder(115;0.0122) TCTTTCCATCCAGCTTGAGGG 0.478000 GRIK1 2897 broad.mit.edu 37 21 31045467 31045467 + Missense_Mutation SNP C C G TCGA-CG-5722-01A-21D-1600-08 TCGA-CG-5722-11A-02D-1600-08 Untested Somatic Phase_I WXS none Illumina GAIIx 78d7b4b4-4d1b-42a3-9051-3b84a0b371c4 f209e9fe-c3db-4fe3-bc2f-2f92cee6a331 g.chr21:31045467C>G uc002yno.1 - 4 1026 c.562G>C c.(562-564)GAG>CAG p.E188Q GRIK1_uc002ynn.2_Missense_Mutation_p.E188Q|GRIK1_uc011acs.1_Missense_Mutation_p.E188Q|GRIK1_uc011act.1_Missense_Mutation_p.E132Q|GRIK1_uc010glq.1_Missense_Mutation_p.E46Q|GRIK1_uc002ynr.2_Missense_Mutation_p.E188Q NM_000830 NP_000821 P39086 GRIK1_HUMAN glutamate receptor, ionotropic, kainate 1 188 Extracellular (Potential). central nervous system development|synaptic transmission cell junction|postsynaptic membrane kainate selective glutamate receptor activity large_intestine(1)|ovary(1)|skin(1) 3 L-Glutamic Acid(DB00142)|Topiramate(DB00273) TTGATGAGCTCTTGTAGACGA 0.393000 TPST2 8459 broad.mit.edu 37 22 26937013 26937013 + Missense_Mutation SNP C C T TCGA-CG-5722-01A-21D-1600-08 TCGA-CG-5722-11A-02D-1600-08 Untested Somatic Phase_I WXS none Illumina GAIIx 78d7b4b4-4d1b-42a3-9051-3b84a0b371c4 f209e9fe-c3db-4fe3-bc2f-2f92cee6a331 g.chr22:26937013C>T uc003acv.2 - 2 752 c.584G>A c.(583-585)CGC>CAC p.R195H TPST2_uc003acw.2_Missense_Mutation_p.R195H|TPST2_uc003acx.2_Missense_Mutation_p.R195H|TPST2_uc011akf.1_Missense_Mutation_p.R195H NM_003595 NP_003586 O60704 TPST2_HUMAN tyrosylprotein sulfotransferase 2 195 Lumenal (Potential). peptidyl-tyrosine sulfation endoplasmic reticulum|Golgi membrane|integral to membrane|membrane fraction protein-tyrosine sulfotransferase activity central_nervous_system(1) 1 GGTGACTTTGCGCGTGATCAT 0.602000 PLXNB2 23654 broad.mit.edu 37 22 50715103 50715103 + Silent SNP C C T TCGA-CG-5722-01A-21D-1600-08 TCGA-CG-5722-11A-02D-1600-08 Untested Somatic Phase_I WXS none Illumina GAIIx 78d7b4b4-4d1b-42a3-9051-3b84a0b371c4 f209e9fe-c3db-4fe3-bc2f-2f92cee6a331 g.chr22:50715103C>T uc003bkv.3 - 35 5398 c.5292G>A c.(5290-5292)CAG>CAA p.Q1764Q PLXNB2_uc003bkt.1_Silent_p.Q556Q|PLXNB2_uc003bku.1_Silent_p.Q749Q NM_012401 NP_036533 O15031 PLXB2_HUMAN plexin B2 precursor 1764 Cytoplasmic (Potential). regulation of small GTPase mediated signal transduction integral to membrane|intracellular GTPase activator activity|protein binding|receptor activity ovary(4)|central_nervous_system(1)|skin(1) 6 all_cancers(38;5.78e-13)|all_epithelial(38;1.71e-11)|all_lung(38;3.89e-05)|Breast(42;0.000523)|Lung NSC(38;0.000992)|Ovarian(80;0.0221)|Hepatocellular(38;0.0691)|Lung SC(80;0.113) BRCA - Breast invasive adenocarcinoma(115;0.205)|LUAD - Lung adenocarcinoma(64;0.247) GGTCGCTGACCTGCACCATCT 0.622000 TRANK1 9881 broad.mit.edu 37 3 36896947 36896947 + Silent SNP C C T TCGA-CG-5722-01A-21D-1600-08 TCGA-CG-5722-11A-02D-1600-08 Untested Somatic Phase_I WXS none Illumina GAIIx 78d7b4b4-4d1b-42a3-9051-3b84a0b371c4 f209e9fe-c3db-4fe3-bc2f-2f92cee6a331 g.chr3:36896947C>T uc003cgj.2 - 3 2786 c.2484G>A c.(2482-2484)TCG>TCA p.S828S NM_014831 NP_055646 O15050 TRNK1_HUMAN lupus brain antigen 1 1378 DNA repair ATP binding|ATP-dependent DNA helicase activity|DNA binding ovary(1)|central_nervous_system(1) 2 CCCTGAGCTTCGACAGCCTCC 0.493000 PCBP4 57060 broad.mit.edu 37 3 51992845 51992845 + Missense_Mutation SNP G G A TCGA-CG-5722-01A-21D-1600-08 TCGA-CG-5722-11A-02D-1600-08 Untested Somatic Phase_I WXS none Illumina GAIIx 78d7b4b4-4d1b-42a3-9051-3b84a0b371c4 f209e9fe-c3db-4fe3-bc2f-2f92cee6a331 g.chr3:51992845G>A uc003dcd.1 - 11 1280 c.884C>T c.(883-885)CCG>CTG p.P295L PCBP4_uc003dcb.1_Missense_Mutation_p.P261L|PCBP4_uc003dcc.1_Missense_Mutation_p.P316L|PCBP4_uc003dce.1_Silent_p.S296S|PCBP4_uc003dcf.1_Missense_Mutation_p.P295L|PCBP4_uc003dcg.1_Missense_Mutation_p.P261L|PCBP4_uc003dch.1_Missense_Mutation_p.P295L|PCBP4_uc003dci.1_Missense_Mutation_p.P135L|PCBP4_uc003dcj.1_Missense_Mutation_p.P295L|PCBP4_uc003dck.1_Missense_Mutation_p.P252L|PCBP4_uc003dcl.1_Missense_Mutation_p.P295L NM_033010 NP_127503 P57723 PCBP4_HUMAN poly(rC) binding protein 4 isoform c 295 cytoplasm|ribonucleoprotein complex DNA binding|RNA binding 0 BRCA - Breast invasive adenocarcinoma(193;8.01e-05)|Kidney(197;0.000534)|KIRC - Kidney renal clear cell carcinoma(197;0.000716) GATGGAGACCGGAGAGCCAGT 0.627000 KALRN 8997 broad.mit.edu 37 3 124436117 124436117 + Missense_Mutation SNP A A T TCGA-CG-5722-01A-21D-1600-08 TCGA-CG-5722-11A-02D-1600-08 Untested Somatic Phase_I WXS none Illumina GAIIx 78d7b4b4-4d1b-42a3-9051-3b84a0b371c4 f209e9fe-c3db-4fe3-bc2f-2f92cee6a331 g.chr3:124436117A>T uc003ehg.2 + 59 8427 c.8300A>T c.(8299-8301)GAC>GTC p.D2767V KALRN_uc003ehk.2_Missense_Mutation_p.D1070V NM_001024660 NP_001019831 O60229 KALRN_HUMAN kalirin, RhoGEF kinase isoform 1 2766 Protein kinase. apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|nervous system development|regulation of Rho protein signal transduction|small GTPase mediated signal transduction|vesicle-mediated transport actin cytoskeleton|cytosol ATP binding|GTPase activator activity|metal ion binding|protein binding|protein serine/threonine kinase activity|Rho guanyl-nucleotide exchange factor activity large_intestine(2)|ovary(2)|central_nervous_system(1)|skin(1) 6 CGGCTCTTAGACTACCTTATG 0.408000 VEPH1 79674 broad.mit.edu 37 3 157188240 157188240 + Missense_Mutation SNP C C T rs141413130 TCGA-CG-5722-01A-21D-1600-08 TCGA-CG-5722-11A-02D-1600-08 Untested Somatic Phase_I WXS none Illumina GAIIx 78d7b4b4-4d1b-42a3-9051-3b84a0b371c4 f209e9fe-c3db-4fe3-bc2f-2f92cee6a331 g.chr3:157188240C>T uc003fbj.1 - 3 534 c.217G>A c.(217-219)GAG>AAG p.E73K VEPH1_uc003fbk.1_Missense_Mutation_p.E73K|VEPH1_uc010hvu.1_Missense_Mutation_p.E73K|VEPH1_uc003fbm.2_Missense_Mutation_p.E73K|VEPH1_uc003fbn.2_Missense_Mutation_p.E73K NM_024621 NP_078897 Q14D04 MELT_HUMAN ventricular zone expressed PH domain homolog 1 73 plasma membrane breast(3)|ovary(1)|lung(1) 5 Lung(72;0.0272)|LUSC - Lung squamous cell carcinoma(72;0.0461) TCAATGGACTCGGTCTCTCTG 0.458000 SAMD7 344658 broad.mit.edu 37 3 169644391 169644391 + Missense_Mutation SNP T T A TCGA-CG-5722-01A-21D-1600-08 TCGA-CG-5722-11A-02D-1600-08 Untested Somatic Phase_I WXS none Illumina GAIIx 78d7b4b4-4d1b-42a3-9051-3b84a0b371c4 f209e9fe-c3db-4fe3-bc2f-2f92cee6a331 g.chr3:169644391T>A uc003fgd.2 + 6 608 c.341T>A c.(340-342)ATT>AAT p.I114N SAMD7_uc003fge.2_Missense_Mutation_p.I114N|SAMD7_uc011bpo.1_Missense_Mutation_p.I15N NM_182610 NP_872416 Q7Z3H4 SAMD7_HUMAN sterile alpha motif domain containing 7 114 skin(1) 1 all_cancers(22;1.55e-22)|all_epithelial(15;2.41e-27)|all_lung(20;3.52e-17)|Lung NSC(18;1.44e-16)|Ovarian(172;0.000337)|Breast(254;0.169) Lung(28;2.71e-13)|STAD - Stomach adenocarcinoma(35;0.0106) ATGGAAAAAATTAATCCCAAG 0.453000 PIK3CA 5290 broad.mit.edu 37 3 178936091 178936091 + Missense_Mutation SNP G G A rs104886003 TCGA-CG-5722-01A-21D-1600-08 TCGA-CG-5722-11A-02D-1600-08 Untested Somatic Phase_I WXS none Illumina GAIIx 78d7b4b4-4d1b-42a3-9051-3b84a0b371c4 f209e9fe-c3db-4fe3-bc2f-2f92cee6a331 g.chr3:178936091G>A uc003fjk.2 + 10 1790 c.1633G>A c.(1633-1635)GAG>AAG p.E545K NM_006218 NP_006209 P42336 PK3CA_HUMAN phosphoinositide-3-kinase, catalytic, alpha 545 PI3K helical. E -> G (in KERSEB).|E -> A (in cancer).|E -> K (in KERSEB; shows an increase in lipid kinase activity; oncogenic in vivo; occurs in the interface between the PI3K helical domain and the nSH2 (N-terminal SH2) region of the p85 regulatory subunit and may reduce the inhibitory effect of p85; requires interaction with RAS to induce cellular transformation; enhances invadopodia-mediated extracellular matrix degradation and invasion in breast cancer cells). epidermal growth factor receptor signaling pathway|fibroblast growth factor receptor signaling pathway|insulin receptor signaling pathway|leukocyte migration|nerve growth factor receptor signaling pathway|phosphatidylinositol-mediated signaling|platelet activation|T cell costimulation|T cell receptor signaling pathway 1-phosphatidylinositol-3-kinase activity|ATP binding|phosphatidylinositol-4,5-bisphosphate 3-kinase activity p.E545K(735)|p.E545A(75)|p.E545G(55)|p.E545?(19)|p.E545D(15)|p.E545Q(12)|p.E545V(4) breast(1564)|large_intestine(776)|endometrium(246)|urinary_tract(195)|ovary(141)|skin(112)|stomach(98)|thyroid(77)|central_nervous_system(69)|lung(65)|upper_aerodigestive_tract(58)|haematopoietic_and_lymphoid_tissue(27)|cervix(25)|biliary_tract(22)|liver(20)|oesophagus(17)|pancreas(11)|penis(8)|pituitary(8)|autonomic_ganglia(4)|prostate(3)|kidney(2)|meninges(1)|eye(1)|NS(1)|soft_tissue(1)|bone(1) 3553 all_cancers(143;1.19e-17)|Ovarian(172;0.00769)|Breast(254;0.155) OV - Ovarian serous cystadenocarcinoma(80;9.59e-28)|GBM - Glioblastoma multiforme(14;0.003)|BRCA - Breast invasive adenocarcinoma(182;0.0282) TGAAATCACTGAGCAGGAGAA 0.353000 E545K(RERFLCSQ1_LUNG)|E545K(KYSE510_OESOPHAGUS)|E545K(NCIH508_LARGE_INTESTINE)|E545K(HCC202_BREAST)|E545K(BFTC909_KIDNEY)|E545K(HCT15_LARGE_INTESTINE)|E545K(NCIH596_LUNG)|E545K(L363_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|E545K(DLD1_LARGE_INTESTINE)|E545K(ESS1_ENDOMETRIUM)|E545K(MDAMB361_BREAST)|E545K(MKN1_STOMACH)|E545K(MCF7_BREAST)|E545K(NCIH460_LUNG)|E545K(TCCSUP_URINARY_TRACT)|E545K(HSC4_UPPER_AERODIGESTIVE_TRACT)|E545K(BC3C_URINARY_TRACT)|E545K(HUH28_BILIARY_TRACT)|E545K(HT1197_URINARY_TRACT)|E545K(TE5_OESOPHAGUS) 57 Mis colorectal|gastric|gliobastoma|breast HNSCC(19;0.045)|TSP Lung(28;0.18) DNAJB11 51726 broad.mit.edu 37 3 186299790 186299790 + Silent SNP G G C TCGA-CG-5722-01A-21D-1600-08 TCGA-CG-5722-11A-02D-1600-08 Untested Somatic Phase_I WXS none Illumina GAIIx 78d7b4b4-4d1b-42a3-9051-3b84a0b371c4 f209e9fe-c3db-4fe3-bc2f-2f92cee6a331 g.chr3:186299790G>C uc003fqi.2 + 6 826 c.606G>C c.(604-606)GTG>GTC p.V202V NM_016306 NP_057390 Q9UBS4 DJB11_HUMAN DnaJ (Hsp40) homolog, subfamily B, member 11 202 protein folding endoplasmic reticulum lumen heat shock protein binding ovary(1)|lung(1) 2 all_cancers(143;2.84e-12)|Ovarian(172;0.0339) OV - Ovarian serous cystadenocarcinoma(80;1.44e-20) GBM - Glioblastoma multiforme(93;0.0476) TCAGACTAGTGAATGAAGAAC 0.333000 HNRNPD 3184 broad.mit.edu 37 4 83278030 83278030 + Missense_Mutation SNP T T C TCGA-CG-5722-01A-21D-1600-08 TCGA-CG-5722-11A-02D-1600-08 Untested Somatic Phase_I WXS none Illumina GAIIx 78d7b4b4-4d1b-42a3-9051-3b84a0b371c4 f209e9fe-c3db-4fe3-bc2f-2f92cee6a331 g.chr4:83278030T>C uc003hmm.1 - 6 1090 c.772A>G c.(772-774)ATG>GTG p.M258V HNRNPD_uc003hml.1_RNA|HNRNPD_uc003hmn.1_Missense_Mutation_p.M239V|HNRNPD_uc003hmo.1_Missense_Mutation_p.M258V|HNRNPD_uc003hmp.1_Missense_Mutation_p.M239V|HNRNPD_uc010ijr.1_Missense_Mutation_p.M239V|HNRNPD_uc011cci.1_Missense_Mutation_p.M104V NM_031370 NP_112738 Q14103 HNRPD_HUMAN heterogeneous nuclear ribonucleoprotein D 258 RRM 2. nuclear mRNA splicing, via spliceosome|positive regulation of transcription, DNA-dependent|RNA catabolic process|transcription, DNA-dependent cytosol|heterogeneous nuclear ribonucleoprotein complex|nucleoplasm nucleotide binding|protein binding|RNA binding|telomeric DNA binding 0 TCCTTCGACATGGCTACTTTT 0.373000 CDS1 1040 broad.mit.edu 37 4 85553014 85553014 + Missense_Mutation SNP G G A TCGA-CG-5722-01A-21D-1600-08 TCGA-CG-5722-11A-02D-1600-08 Untested Somatic Phase_I WXS none Illumina GAIIx 78d7b4b4-4d1b-42a3-9051-3b84a0b371c4 f209e9fe-c3db-4fe3-bc2f-2f92cee6a331 g.chr4:85553014G>A uc011ccv.1 + 6 1121 c.623G>A c.(622-624)CGT>CAT p.R208H CDS1_uc010ike.1_Missense_Mutation_p.R12H NM_001263 NP_001254 Q92903 CDS1_HUMAN CDP-diacylglycerol synthase 1 208 signal transduction|visual perception endoplasmic reticulum membrane|integral to membrane diacylglycerol cholinephosphotransferase activity|phosphatidate cytidylyltransferase activity large_intestine(2)|ovary(1)|breast(1) 4 Hepatocellular(203;0.114) OV - Ovarian serous cystadenocarcinoma(123;0.00101) AAACATTATCGTCTGCAGTTT 0.328000 TLL1 7092 broad.mit.edu 37 4 167012436 167012436 + Missense_Mutation SNP C C T TCGA-CG-5722-01A-21D-1600-08 TCGA-CG-5722-11A-02D-1600-08 Untested Somatic Phase_I WXS none Illumina GAIIx 78d7b4b4-4d1b-42a3-9051-3b84a0b371c4 f209e9fe-c3db-4fe3-bc2f-2f92cee6a331 g.chr4:167012436C>T uc003irh.1 + 19 3246 c.2599C>T c.(2599-2601)CGG>TGG p.R867W TLL1_uc011cjn.1_Missense_Mutation_p.R890W|TLL1_uc011cjo.1_Missense_Mutation_p.R691W NM_012464 NP_036596 O43897 TLL1_HUMAN tolloid-like 1 precursor 867 CUB 4. cell differentiation|proteolysis|skeletal system development extracellular region calcium ion binding|metalloendopeptidase activity|zinc ion binding skin(3)|ovary(2)|breast(1)|central_nervous_system(1) 7 all_hematologic(180;0.221) Melanoma(52;0.0315)|Prostate(90;0.0405) GBM - Glioblastoma multiforme(119;0.103) AATGTTTGTTCGGTTTGTTTC 0.403000 PCDHA1 56147 broad.mit.edu 37 5 140166324 140166324 + Missense_Mutation SNP C C T TCGA-CG-5722-01A-21D-1600-08 TCGA-CG-5722-11A-02D-1600-08 Untested Somatic Phase_I WXS none Illumina GAIIx 78d7b4b4-4d1b-42a3-9051-3b84a0b371c4 f209e9fe-c3db-4fe3-bc2f-2f92cee6a331 g.chr5:140166324C>T uc003lhb.2 + 1 449 c.449C>T c.(448-450)TCG>TTG p.S150L PCDHA1_uc003lha.2_Missense_Mutation_p.S150L|PCDHA1_uc003lgz.2_Missense_Mutation_p.S150L NM_018900 NP_061723 Q9Y5I3 PCDA1_HUMAN protocadherin alpha 1 isoform 1 precursor 150 Extracellular (Potential). homophilic cell adhesion|nervous system development extracellular region|integral to plasma membrane calcium ion binding|protein binding skin(1) 1 KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191) CTCCTGAATTCGCGTTTTCCG 0.443000 PCDHA6 56142 broad.mit.edu 37 5 140208285 140208285 + Missense_Mutation SNP G G T TCGA-CG-5722-01A-21D-1600-08 TCGA-CG-5722-11A-02D-1600-08 Untested Somatic Phase_I WXS none Illumina GAIIx 78d7b4b4-4d1b-42a3-9051-3b84a0b371c4 f209e9fe-c3db-4fe3-bc2f-2f92cee6a331 g.chr5:140208285G>T uc003lho.2 + 1 636 c.609G>T c.(607-609)GAG>GAT p.E203D PCDHA1_uc003lha.2_Intron|PCDHA1_uc003lhb.2_Intron|PCDHA2_uc003lhd.2_Intron|PCDHA3_uc003lhf.2_Intron|PCDHA4_uc003lhi.2_Intron|PCDHA4_uc003lhh.1_Intron|PCDHA5_uc003lhk.1_Intron|PCDHA5_uc003lhl.2_Intron|PCDHA6_uc003lhn.2_Missense_Mutation_p.E203D|PCDHA6_uc011dab.1_Missense_Mutation_p.E203D NM_018909 NP_061732 Q9UN73 PCDA6_HUMAN protocadherin alpha 6 isoform 1 precursor 203 Cadherin 2.|Extracellular (Potential). homophilic cell adhesion|nervous system development extracellular region|integral to plasma membrane calcium ion binding|protein binding haematopoietic_and_lymphoid_tissue(1)|skin(1) 2 KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191) TGGACAGAGAGGAAGCTCCTG 0.448000 PCDHA8 56140 broad.mit.edu 37 5 140222835 140222835 + Silent SNP G G A TCGA-CG-5722-01A-21D-1600-08 TCGA-CG-5722-11A-02D-1600-08 Untested Somatic Phase_I WXS none Illumina GAIIx 78d7b4b4-4d1b-42a3-9051-3b84a0b371c4 f209e9fe-c3db-4fe3-bc2f-2f92cee6a331 g.chr5:140222835G>A uc003lhs.2 + 1 1929 c.1929G>A c.(1927-1929)CCG>CCA p.P643P PCDHA1_uc003lha.2_Intron|PCDHA1_uc003lhb.2_Intron|PCDHA2_uc003lhd.2_Intron|PCDHA3_uc003lhf.2_Intron|PCDHA4_uc003lhi.2_Intron|PCDHA4_uc003lhh.1_Intron|PCDHA5_uc003lhk.1_Intron|PCDHA5_uc003lhl.2_Intron|PCDHA6_uc003lhn.2_Intron|PCDHA6_uc003lho.2_Intron|PCDHA7_uc003lhq.2_Intron|PCDHA8_uc003lhr.1_Silent_p.P643P NM_018911 NP_061734 Q9Y5H6 PCDA8_HUMAN protocadherin alpha 8 isoform 1 precursor 643 Cadherin 6.|Extracellular (Potential). homophilic cell adhesion|nervous system development integral to plasma membrane calcium ion binding|protein binding upper_aerodigestive_tract(1)|ovary(1) 2 KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191) CGGACTCTCCGCGCCACCGTC 0.662000 PCDHGB2 56103 broad.mit.edu 37 5 140741004 140741004 + Silent SNP C C A TCGA-CG-5722-01A-21D-1600-08 TCGA-CG-5722-11A-02D-1600-08 Untested Somatic Phase_I WXS none Illumina GAIIx 78d7b4b4-4d1b-42a3-9051-3b84a0b371c4 f209e9fe-c3db-4fe3-bc2f-2f92cee6a331 g.chr5:140741004C>A uc003ljs.1 + 1 1302 c.1302C>A c.(1300-1302)TCC>TCA p.S434S PCDHGA1_uc003lji.1_Intron|PCDHGA2_uc003ljk.1_Intron|PCDHGA3_uc003ljm.1_Intron|PCDHGA3_uc010jfx.1_Intron|PCDHGB1_uc003ljo.1_Intron|PCDHGA4_uc003ljq.1_Intron|PCDHGA5_uc003lju.1_5'Flank|PCDHGB2_uc011dar.1_Silent_p.S434S|PCDHGA5_uc011das.1_5'Flank NM_018923 NP_061746 Q9Y5G2 PCDGE_HUMAN protocadherin gamma subfamily B, 2 isoform 1 434 Extracellular (Potential).|Cadherin 4. homophilic cell adhesion integral to membrane|plasma membrane calcium ion binding 0 KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191) CCCTCTCCTCCAGCATAATTG 0.542000 NR3C1 2908 broad.mit.edu 37 5 142779330 142779330 + Missense_Mutation SNP C C T TCGA-CG-5722-01A-21D-1600-08 TCGA-CG-5722-11A-02D-1600-08 Untested Somatic Phase_I WXS none Illumina GAIIx 78d7b4b4-4d1b-42a3-9051-3b84a0b371c4 f209e9fe-c3db-4fe3-bc2f-2f92cee6a331 g.chr5:142779330C>T uc003lmz.2 - 2 1567 c.1075G>A c.(1075-1077)GTT>ATT p.V359I NR3C1_uc003lmy.2_Missense_Mutation_p.V359I|NR3C1_uc003lna.2_Missense_Mutation_p.V359I|NR3C1_uc003lnb.2_Missense_Mutation_p.V359I|NR3C1_uc011dbk.1_Intron|NR3C1_uc003lnc.2_Missense_Mutation_p.V359I|NR3C1_uc003lnd.2_Missense_Mutation_p.V359I|NR3C1_uc003lne.2_Missense_Mutation_p.V359I|NR3C1_uc003lnf.2_Missense_Mutation_p.V359I|NR3C1_uc003lng.2_Missense_Mutation_p.V359I|NR3C1_uc003lnh.2_Missense_Mutation_p.V359I|NR3C1_uc003lni.2_Missense_Mutation_p.V359I NM_000176 NP_000167 P04150 GCR_HUMAN glucocorticoid receptor isoform alpha 359 Modulating. chromatin modification|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor|response to protein stimulus|transcription from RNA polymerase II promoter mitochondrial matrix|nucleoplasm glucocorticoid receptor activity|protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|steroid binding|zinc ion binding ovary(2) 2 Acute lymphoblastic leukemia(2;3.2e-05)|all_hematologic(2;0.000361) KIRC - Kidney renal clear cell carcinoma(527;0.00111)|Kidney(363;0.00176) Amcinonide(DB00288)|Betamethasone(DB00443)|Budesonide(DB01222)|Dexamethasone(DB01234)|Flumethasone Pivalate(DB00663)|Flunisolide(DB00180)|Fluticasone Propionate(DB00588)|Hydrocortamate(DB00769)|Hydrocortisone(DB00741)|Loteprednol Etabonate(DB00873)|Methylprednisolone(DB00959)|Mifepristone(DB00834)|Mometasone(DB00764)|Prednisone(DB00635) TCGGAACCAACGGGAATTGGT 0.443000 GRIA1 2890 broad.mit.edu 37 5 153149797 153149797 + Missense_Mutation SNP C C T TCGA-CG-5722-01A-21D-1600-08 TCGA-CG-5722-11A-02D-1600-08 Untested Somatic Phase_I WXS none Illumina GAIIx 78d7b4b4-4d1b-42a3-9051-3b84a0b371c4 f209e9fe-c3db-4fe3-bc2f-2f92cee6a331 g.chr5:153149797C>T uc003lva.3 + 13 2457 c.2092C>T c.(2092-2094)CGG>TGG p.R698W GRIA1_uc003luy.3_Missense_Mutation_p.R698W|GRIA1_uc003luz.3_Missense_Mutation_p.R603W|GRIA1_uc011dcv.1_RNA|GRIA1_uc011dcw.1_Missense_Mutation_p.R618W|GRIA1_uc011dcx.1_Missense_Mutation_p.R629W|GRIA1_uc011dcy.1_Missense_Mutation_p.R708W|GRIA1_uc011dcz.1_Missense_Mutation_p.R708W NM_001114183 NP_001107655 P42261 GRIA1_HUMAN glutamate receptor, ionotropic, AMPA 1 isoform 698 Extracellular (Potential). synaptic transmission alpha-amino-3-hydroxy-5-methyl-4-isoxazolepropionic acid selective glutamate receptor complex|cell junction|dendritic spine|endocytic vesicle membrane|endoplasmic reticulum membrane|neuronal cell body|postsynaptic density|postsynaptic membrane alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity|extracellular-glutamate-gated ion channel activity|kainate selective glutamate receptor activity|PDZ domain binding ovary(4)|skin(2) 6 Medulloblastoma(196;0.0391)|all_neural(177;0.16)|all_hematologic(541;0.21) Kidney(363;0.000173)|KIRC - Kidney renal clear cell carcinoma(527;0.000785) Desflurane(DB01189)|Enflurane(DB00228)|Halothane(DB01159)|Isoflurane(DB00753)|L-Glutamic Acid(DB00142)|Methoxyflurane(DB01028)|Sevoflurane(DB01236) AGTTTTTGTGCGGACCACAGA 0.463000 POLH 5429 broad.mit.edu 37 6 43581728 43581728 + Missense_Mutation SNP A A G TCGA-CG-5722-01A-21D-1600-08 TCGA-CG-5722-11A-02D-1600-08 Untested Somatic Phase_I WXS none Illumina GAIIx 78d7b4b4-4d1b-42a3-9051-3b84a0b371c4 f209e9fe-c3db-4fe3-bc2f-2f92cee6a331 g.chr6:43581728A>G uc003ovq.3 + 11 1880 c.1576A>G c.(1576-1578)ACA>GCA p.T526A POLH_uc010jyu.2_Missense_Mutation_p.T402A|POLH_uc011dvl.1_RNA|POLH_uc003ovr.3_Missense_Mutation_p.T427A NM_006502 NP_006493 Q9Y253 POLH_HUMAN DNA-directed DNA polymerase eta 526 DNA replication|DNA synthesis involved in DNA repair|regulation of DNA repair|response to UV-C cytoplasm|nucleoplasm damaged DNA binding|DNA-directed DNA polymerase activity|metal ion binding breast(2) 2 all_cancers(18;1.89e-05)|Lung NSC(15;0.00161)|all_lung(25;0.004) all cancers(41;0.000753)|Colorectal(64;0.00245)|COAD - Colon adenocarcinoma(64;0.00536)|STAD - Stomach adenocarcinoma(11;0.0826)|OV - Ovarian serous cystadenocarcinoma(102;0.167) CAGTCAAAGTACAGGAACTGA 0.433000 DNA_polymerases_(catalytic_subunits) Xeroderma_Pigmentosum MUT 4594 broad.mit.edu 37 6 49415470 49415470 + Silent SNP C C T TCGA-CG-5722-01A-21D-1600-08 TCGA-CG-5722-11A-02D-1600-08 Untested Somatic Phase_I WXS none Illumina GAIIx 78d7b4b4-4d1b-42a3-9051-3b84a0b371c4 f209e9fe-c3db-4fe3-bc2f-2f92cee6a331 g.chr6:49415470C>T uc003ozg.3 - 8 1728 c.1473G>A c.(1471-1473)AAG>AAA p.K491K NM_000255 NP_000246 P22033 MUTA_HUMAN methylmalonyl Coenzyme A mutase precursor 491 fatty acid beta-oxidation mitochondrial matrix cobalamin binding|metal ion binding|methylmalonyl-CoA mutase activity 0 Lung NSC(77;0.0376) Cyanocobalamin(DB00115)|Hydroxocobalamin(DB00200) CCAACTGGTACTTATTTACTC 0.318000 KCNQ5 56479 broad.mit.edu 37 6 73904416 73904416 + Missense_Mutation SNP C C T TCGA-CG-5722-01A-21D-1600-08 TCGA-CG-5722-11A-02D-1600-08 Untested Somatic Phase_I WXS none Illumina GAIIx 78d7b4b4-4d1b-42a3-9051-3b84a0b371c4 f209e9fe-c3db-4fe3-bc2f-2f92cee6a331 g.chr6:73904416C>T uc003pgk.2 + 14 2425 c.2078C>T c.(2077-2079)ACG>ATG p.T693M KCNQ5_uc011dyh.1_Missense_Mutation_p.T712M|KCNQ5_uc011dyi.1_Missense_Mutation_p.T703M|KCNQ5_uc010kat.2_Missense_Mutation_p.T684M|KCNQ5_uc011dyj.1_Missense_Mutation_p.T583M|KCNQ5_uc011dyk.1_Missense_Mutation_p.T443M NM_019842 NP_062816 Q9NR82 KCNQ5_HUMAN potassium voltage-gated channel, KQT-like 693 protein complex assembly|synaptic transmission voltage-gated potassium channel complex inward rectifier potassium channel activity ovary(4)|large_intestine(2)|skin(1) 7 all_epithelial(107;0.116)|Lung NSC(302;0.219) COAD - Colon adenocarcinoma(1;0.0107)|Colorectal(1;0.0583) TTCATTCTGACGCCAAATGAG 0.502000 COL12A1 1303 broad.mit.edu 37 6 75838110 75838110 + Missense_Mutation SNP A A G TCGA-CG-5722-01A-21D-1600-08 TCGA-CG-5722-11A-02D-1600-08 Untested Somatic Phase_I WXS none Illumina GAIIx 78d7b4b4-4d1b-42a3-9051-3b84a0b371c4 f209e9fe-c3db-4fe3-bc2f-2f92cee6a331 g.chr6:75838110A>G uc003phs.2 - 38 6408 c.6242T>C c.(6241-6243)ATA>ACA p.I2081T COL12A1_uc003pht.2_Missense_Mutation_p.I917T NM_004370 NP_004361 Q99715 COCA1_HUMAN collagen, type XII, alpha 1 long isoform 2081 Fibronectin type-III 16. cell adhesion|collagen fibril organization|skeletal system development collagen type XII|extracellular space extracellular matrix structural constituent conferring tensile strength ovary(6)|large_intestine(1)|breast(1)|skin(1) 9 GGGCTGCAGTATTACATTGTT 0.378000 SYNE1 23345 broad.mit.edu 37 6 152673313 152673313 + Missense_Mutation SNP G G A TCGA-CG-5722-01A-21D-1600-08 TCGA-CG-5722-11A-02D-1600-08 Untested Somatic Phase_I WXS none Illumina GAIIx 78d7b4b4-4d1b-42a3-9051-3b84a0b371c4 f209e9fe-c3db-4fe3-bc2f-2f92cee6a331 g.chr6:152673313G>A uc010kiw.2 - 70 12031 c.11429C>T c.(11428-11430)ACG>ATG p.T3810M SYNE1_uc003qot.3_Missense_Mutation_p.T3795M|SYNE1_uc003qou.3_Missense_Mutation_p.T3810M|SYNE1_uc010kja.1_Missense_Mutation_p.T515M NM_182961 NP_892006 Q8NF91 SYNE1_HUMAN spectrin repeat containing, nuclear envelope 1 3810 Cytoplasmic (Potential).|Potential. cell death|cytoskeletal anchoring at nuclear membrane|Golgi organization|muscle cell differentiation|nuclear matrix anchoring at nuclear membrane cytoskeleton|Golgi apparatus|integral to membrane|nuclear outer membrane|postsynaptic membrane|sarcomere|SUN-KASH complex actin binding|lamin binding central_nervous_system(15)|upper_aerodigestive_tract(9)|ovary(8)|skin(6)|large_intestine(5)|pancreas(2) 45 Ovarian(120;0.0955) BRCA - Breast invasive adenocarcinoma(37;0.243) OV - Ovarian serous cystadenocarcinoma(155;2.24e-10) TTTTTCCAGCGTCATGTGTTC 0.438000 HNSCC(10;0.0054) MACC1 346389 broad.mit.edu 37 7 20198241 20198241 + Silent SNP G G A TCGA-CG-5722-01A-21D-1600-08 TCGA-CG-5722-11A-02D-1600-08 Untested Somatic Phase_I WXS none Illumina GAIIx 78d7b4b4-4d1b-42a3-9051-3b84a0b371c4 f209e9fe-c3db-4fe3-bc2f-2f92cee6a331 g.chr7:20198241G>A uc003sus.3 - 5 2052 c.1743C>T c.(1741-1743)CTC>CTT p.L581L MACC1_uc010kug.2_Silent_p.L581L NM_182762 NP_877439 Q6ZN28 MACC1_HUMAN putative binding protein 7a5 581 SH3. positive regulation of cell division|regulation of transcription, DNA-dependent|transcription, DNA-dependent cytoplasm|nucleus|plasma membrane growth factor activity ovary(2)|skin(1) 3 TACCTTCCCCGAGGAGAGCTA 0.418000 RAMP3 10268 broad.mit.edu 37 7 45222946 45222946 + Missense_Mutation SNP G G A TCGA-CG-5722-01A-21D-1600-08 TCGA-CG-5722-11A-02D-1600-08 Untested Somatic Phase_I WXS none Illumina GAIIx 78d7b4b4-4d1b-42a3-9051-3b84a0b371c4 f209e9fe-c3db-4fe3-bc2f-2f92cee6a331 g.chr7:45222946G>A uc003tnb.2 + 3 443 c.382G>A c.(382-384)GTT>ATT p.V128I RAMP3_uc003tnc.2_Missense_Mutation_p.V96I NM_005856 NP_005847 O60896 RAMP3_HUMAN receptor activity modifying protein 3 precursor 128 Helical; (Potential). intracellular protein transport|receptor-mediated endocytosis|regulation of G-protein coupled receptor protein signaling pathway integral to plasma membrane|lysosome protein transporter activity 0 Pramlintide(DB01278) TATACCCGTCGTTCTGACTGT 0.622000 TMEM130 222865 broad.mit.edu 37 7 98460898 98460898 + Missense_Mutation SNP G G A TCGA-CG-5722-01A-21D-1600-08 TCGA-CG-5722-11A-02D-1600-08 Untested Somatic Phase_I WXS none Illumina GAIIx 78d7b4b4-4d1b-42a3-9051-3b84a0b371c4 f209e9fe-c3db-4fe3-bc2f-2f92cee6a331 g.chr7:98460898G>A uc003upo.2 - 2 400 c.211C>T c.(211-213)CGC>TGC p.R71C TMEM130_uc011kiq.1_Missense_Mutation_p.R52C|TMEM130_uc011kir.1_Missense_Mutation_p.R71C|TMEM130_uc003upn.2_Intron NM_001134450 NP_001127922 Q8N3G9 TM130_HUMAN transmembrane protein 130 isoform a 71 Extracellular (Potential). Golgi membrane|integral to membrane ovary(1)|central_nervous_system(1) 2 all_cancers(62;4.05e-09)|all_epithelial(64;2.62e-09)|Lung NSC(181;0.01)|all_lung(186;0.0115)|Esophageal squamous(72;0.0274) STAD - Stomach adenocarcinoma(171;0.215) CAGTGGAAGCGGTAGAGGTGG 0.667000 ADAM18 8749 broad.mit.edu 37 8 39587447 39587447 + Silent SNP C C T TCGA-CG-5722-01A-21D-1600-08 TCGA-CG-5722-11A-02D-1600-08 Untested Somatic Phase_I WXS none Illumina GAIIx 78d7b4b4-4d1b-42a3-9051-3b84a0b371c4 f209e9fe-c3db-4fe3-bc2f-2f92cee6a331 g.chr8:39587447C>T uc003xni.2 + 20 2208 c.2208C>T c.(2206-2208)GAC>GAT p.D736D ADAM18_uc010lww.2_RNA|ADAM18_uc010lwx.2_Silent_p.D712D NM_014237 NP_055052 Q9Y3Q7 ADA18_HUMAN a disintegrin and metalloprotease domain 18 736 Cytoplasmic (Potential). cell differentiation|multicellular organismal development|proteolysis|spermatogenesis integral to membrane|membrane fraction metalloendopeptidase activity|zinc ion binding central_nervous_system(2)|upper_aerodigestive_tract(1)|ovary(1)|kidney(1)|skin(1) 6 all_cancers(7;1.32e-05)|all_epithelial(6;3.08e-10)|all_lung(54;0.00187)|Hepatocellular(245;0.00745)|Lung NSC(58;0.00769)|Breast(189;0.0112) LUSC - Lung squamous cell carcinoma(45;0.000199) AAAGCGATGACGTGGGACATT 0.323000 RIMS2 9699 broad.mit.edu 37 8 104898187 104898187 + Silent SNP C C T TCGA-CG-5722-01A-21D-1600-08 TCGA-CG-5722-11A-02D-1600-08 Untested Somatic Phase_I WXS none Illumina GAIIx 78d7b4b4-4d1b-42a3-9051-3b84a0b371c4 f209e9fe-c3db-4fe3-bc2f-2f92cee6a331 g.chr8:104898187C>T uc003yls.2 + 2 935 c.694C>T c.(694-696)CTA>TTA p.L232L RIMS2_uc003ylp.2_Silent_p.L454L|RIMS2_uc003ylw.2_Silent_p.L262L|RIMS2_uc003ylq.2_Silent_p.L262L|RIMS2_uc003ylr.2_Silent_p.L262L NM_014677 NP_055492 Q9UQ26 RIMS2_HUMAN regulating synaptic membrane exocytosis 2 485 intracellular protein transport cell junction|presynaptic membrane metal ion binding|Rab GTPase binding ovary(6)|lung(2)|breast(2)|skin(2)|large_intestine(1)|central_nervous_system(1)|pancreas(1) 15 OV - Ovarian serous cystadenocarcinoma(57;7.7e-07)|STAD - Stomach adenocarcinoma(118;0.229) TACTGACTCACTACGGAAACA 0.448000 HNSCC(12;0.0054) RNF139 11236 broad.mit.edu 37 8 125499249 125499249 + Silent SNP C C T TCGA-CG-5722-01A-21D-1600-08 TCGA-CG-5722-11A-02D-1600-08 Untested Somatic Phase_I WXS none Illumina GAIIx 78d7b4b4-4d1b-42a3-9051-3b84a0b371c4 f209e9fe-c3db-4fe3-bc2f-2f92cee6a331 g.chr8:125499249C>T uc003yrc.2 + 2 1702 c.1359C>T c.(1357-1359)CTC>CTT p.L453L NM_007218 NP_009149 Q8WU17 RN139_HUMAN ring finger protein 139 453 negative regulation of cell proliferation|regulation of protein ubiquitination endoplasmic reticulum membrane|integral to membrane protein binding|receptor activity|ubiquitin-protein ligase activity|zinc ion binding kidney(1) 1 Ovarian(258;0.00438)|all_neural(195;0.0779)|Hepatocellular(40;0.108) STAD - Stomach adenocarcinoma(47;0.00288) ATAATGTCCTCTGGGAAAAGC 0.353000 Renal_Cell_Cancer_associated_with_constitutional_translocation_of_chromosome_3 KIAA1432 57589 broad.mit.edu 37 9 5772699 5772699 + Missense_Mutation SNP A A G TCGA-CG-5722-01A-21D-1600-08 TCGA-CG-5722-11A-02D-1600-08 Untested Somatic Phase_I WXS none Illumina GAIIx 78d7b4b4-4d1b-42a3-9051-3b84a0b371c4 f209e9fe-c3db-4fe3-bc2f-2f92cee6a331 g.chr9:5772699A>G uc003zji.2 + 23 3608 c.3515A>G c.(3514-3516)GAG>GGG p.E1172G KIAA1432_uc003zjl.3_Missense_Mutation_p.E1135G|ERMP1_uc011lme.1_Intron NM_020829 NP_065880 Q4ADV7 RIC1_HUMAN connexin 43-interacting protein 150 isoform a 1251 integral to membrane 0 Acute lymphoblastic leukemia(23;0.154) GBM - Glioblastoma multiforme(50;0.000525)|Lung(218;0.122) ATTTCCATGGAGTTGGCCAGT 0.453000 KIAA1797 54914 broad.mit.edu 37 9 20952989 20952989 + Missense_Mutation SNP A A G TCGA-CG-5722-01A-21D-1600-08 TCGA-CG-5722-11A-02D-1600-08 Untested Somatic Phase_I WXS none Illumina GAIIx 78d7b4b4-4d1b-42a3-9051-3b84a0b371c4 f209e9fe-c3db-4fe3-bc2f-2f92cee6a331 g.chr9:20952989A>G uc003zog.1 + 37 4420 c.4057A>G c.(4057-4059)ACT>GCT p.T1353A KIAA1797_uc003zoh.1_Missense_Mutation_p.T789A NM_017794 NP_060264 Q5VW36 K1797_HUMAN hypothetical protein LOC54914 1353 integral to membrane binding ovary(8)|breast(1)|kidney(1) 10 GBM - Glioblastoma multiforme(3;2.1e-125)|Lung(42;2.76e-14)|LUSC - Lung squamous cell carcinoma(42;1.99e-11) CACAGTTCCTACTGACTATAG 0.393000 C9orf103 414328 broad.mit.edu 37 9 86258434 86258434 + Silent SNP A A C TCGA-CG-5722-01A-21D-1600-08 TCGA-CG-5722-11A-02D-1600-08 Untested Somatic Phase_I WXS none Illumina GAIIx 78d7b4b4-4d1b-42a3-9051-3b84a0b371c4 f209e9fe-c3db-4fe3-bc2f-2f92cee6a331 g.chr9:86258434A>C uc004amu.1 + 5 317 c.303A>C c.(301-303)GTA>GTC p.V101V C9orf103_uc004amt.1_Silent_p.V55V|C9orf103_uc010mpv.1_Silent_p.V55V NM_001001551 NP_001001551 Q5T6J7 GNTK_HUMAN gluconokinase-like protein 101 carbohydrate metabolic process cytoplasm ATP binding|gluconokinase activity|shikimate kinase activity 0 AAGATGGTGTAGCTCTGAAGT 0.507000 FAM78A 286336 broad.mit.edu 37 9 134151258 134151258 + Silent SNP G G A TCGA-CG-5722-01A-21D-1600-08 TCGA-CG-5722-11A-02D-1600-08 Untested Somatic Phase_I WXS none Illumina GAIIx 78d7b4b4-4d1b-42a3-9051-3b84a0b371c4 f209e9fe-c3db-4fe3-bc2f-2f92cee6a331 g.chr9:134151258G>A uc004cak.2 - 1 649 c.309C>T c.(307-309)TAC>TAT p.Y103Y NM_033387 NP_203745 Q5JUQ0 FA78A_HUMAN hypothetical protein LOC286336 103 ovary(1) 1 all_hematologic(7;0.0028) Myeloproliferative disorder(178;0.204) OV - Ovarian serous cystadenocarcinoma(145;2.15e-05)|Epithelial(140;0.000267) CCTGCTCGCCGTACTGGTTGT 0.652000 CXorf23 256643 broad.mit.edu 37 X 19973635 19973635 + Missense_Mutation SNP C C T TCGA-CG-5722-01A-21D-1600-08 TCGA-CG-5722-11A-02D-1600-08 Untested Somatic Phase_I WXS none Illumina GAIIx 78d7b4b4-4d1b-42a3-9051-3b84a0b371c4 f209e9fe-c3db-4fe3-bc2f-2f92cee6a331 g.chrX:19973635C>T uc004czp.2 - 4 1324 c.1324G>A c.(1324-1326)GCT>ACT p.A442T CXorf23_uc010nfn.2_RNA|CXorf23_uc011mjg.1_Missense_Mutation_p.A7T|CXorf23_uc004czo.2_Missense_Mutation_p.A392T NM_198279 NP_938020 A2AJT9 CX023_HUMAN hypothetical protein LOC256643 442 mitochondrion lung(1)|skin(1) 2 CTGCCAACAGCAACCAAATCA 0.363000 FAM47B 170062 broad.mit.edu 37 X 34961131 34961131 + Silent SNP C C A TCGA-CG-5722-01A-21D-1600-08 TCGA-CG-5722-11A-02D-1600-08 Untested Somatic Phase_I WXS none Illumina GAIIx 78d7b4b4-4d1b-42a3-9051-3b84a0b371c4 f209e9fe-c3db-4fe3-bc2f-2f92cee6a331 g.chrX:34961131C>A uc004ddi.1 + 1 201 c.183C>A c.(181-183)GCC>GCA p.A61A NM_152631 NP_689844 Q8NA70 FA47B_HUMAN hypothetical protein LOC170062 61 ovary(3)|breast(1) 4 TCCGCTACGCCTGTCAGTCTC 0.552000 HUWE1 10075 broad.mit.edu 37 X 53655786 53655786 + Missense_Mutation SNP C C A TCGA-CG-5722-01A-21D-1600-08 TCGA-CG-5722-11A-02D-1600-08 Untested Somatic Phase_I WXS none Illumina GAIIx 78d7b4b4-4d1b-42a3-9051-3b84a0b371c4 f209e9fe-c3db-4fe3-bc2f-2f92cee6a331 g.chrX:53655786C>A uc004dsp.2 - 14 1433 c.1031G>T c.(1030-1032)AGC>ATC p.S344I NM_031407 NP_113584 Q7Z6Z7 HUWE1_HUMAN HECT, UBA and WWE domain containing 1 344 base-excision repair|cell differentiation|histone ubiquitination|protein monoubiquitination|protein polyubiquitination|protein ubiquitination involved in ubiquitin-dependent protein catabolic process cytoplasm|nucleus DNA binding|protein binding|ubiquitin-protein ligase activity ovary(8)|large_intestine(4)|breast(4)|kidney(1) 17 AATAATACTGCTGAGTTTGGG 0.393000 KIAA2022 340533 broad.mit.edu 37 X 73962731 73962731 + Missense_Mutation SNP A A C TCGA-CG-5722-01A-21D-1600-08 TCGA-CG-5722-11A-02D-1600-08 Untested Somatic Phase_I WXS none Illumina GAIIx 78d7b4b4-4d1b-42a3-9051-3b84a0b371c4 f209e9fe-c3db-4fe3-bc2f-2f92cee6a331 g.chrX:73962731A>C uc004eby.2 - 3 2278 c.1661T>G c.(1660-1662)ATG>AGG p.M554R NM_001008537 NP_001008537 Q5QGS0 K2022_HUMAN hypothetical protein LOC340533 554 base-excision repair, gap-filling|DNA replication proofreading|DNA replication, removal of RNA primer|nucleotide-excision repair, DNA gap filling|regulation of mitotic cell cycle|S phase of mitotic cell cycle delta DNA polymerase complex 3'-5'-exodeoxyribonuclease activity|DNA-directed DNA polymerase activity ovary(7)|large_intestine(4)|skin(2)|upper_aerodigestive_tract(1)|central_nervous_system(1) 15 CTTCACCAGCATGTTCTTCTC 0.423000 CENPI 2491 broad.mit.edu 37 X 100417865 100417865 + Missense_Mutation SNP G G A TCGA-CG-5722-01A-21D-1600-08 TCGA-CG-5722-11A-02D-1600-08 Untested Somatic Phase_I WXS none Illumina GAIIx 78d7b4b4-4d1b-42a3-9051-3b84a0b371c4 f209e9fe-c3db-4fe3-bc2f-2f92cee6a331 g.chrX:100417865G>A uc004egx.2 + 21 2450 c.2180G>A c.(2179-2181)GGG>GAG p.G727E CENPI_uc011mrg.1_Missense_Mutation_p.G713E NM_006733 NP_006724 Q92674 CENPI_HUMAN centromere protein I 727 CenH3-containing nucleosome assembly at centromere|mitotic prometaphase cytosol|kinetochore|nucleoplasm protein binding skin(1) 1 TTTTCACAGGGGTTACAAGGC 0.343000 ZMAT1 84460 broad.mit.edu 37 X 101139539 101139539 + Missense_Mutation SNP G G A TCGA-CG-5722-01A-21D-1600-08 TCGA-CG-5722-11A-02D-1600-08 Untested Somatic Phase_I WXS none Illumina GAIIx 78d7b4b4-4d1b-42a3-9051-3b84a0b371c4 f209e9fe-c3db-4fe3-bc2f-2f92cee6a331 g.chrX:101139539G>A uc004eim.2 - 2 3845 c.347C>T c.(346-348)TCA>TTA p.S116L ZMAT1_uc011mrl.1_Missense_Mutation_p.S287L|ZMAT1_uc004ein.2_Missense_Mutation_p.S116L|ZMAT1_uc011mrm.1_Missense_Mutation_p.S116L NM_032441 NP_115817 Q5H9K5 ZMAT1_HUMAN zinc finger, matrin type 1 isoform 3 116 nucleus zinc ion binding ovary(1) 1 CATTGCTTGTGAAATATTGTA 0.398000 TCEAL5 340543 broad.mit.edu 37 X 102529130 102529130 + Missense_Mutation SNP T T G TCGA-CG-5722-01A-21D-1600-08 TCGA-CG-5722-11A-02D-1600-08 Untested Somatic Phase_I WXS none Illumina GAIIx 78d7b4b4-4d1b-42a3-9051-3b84a0b371c4 f209e9fe-c3db-4fe3-bc2f-2f92cee6a331 g.chrX:102529130T>G uc004ejz.1 - 3 657 c.362A>C c.(361-363)GAC>GCC p.D121A NM_001012979 NP_001012997 Q5H9L2 TCAL5_HUMAN transcription elongation factor A (SII)-like 5 121 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus protein binding lung(1)|breast(1) 2 CGTCCCCCTGTCGGTTTTTCT 0.577000 NRK 203447 broad.mit.edu 37 X 105179181 105179181 + Silent SNP A A G TCGA-CG-5722-01A-21D-1600-08 TCGA-CG-5722-11A-02D-1600-08 Untested Somatic Phase_I WXS none Illumina GAIIx 78d7b4b4-4d1b-42a3-9051-3b84a0b371c4 f209e9fe-c3db-4fe3-bc2f-2f92cee6a331 g.chrX:105179181A>G uc004emd.2 + 21 3822 c.3519A>G c.(3517-3519)GAA>GAG p.E1173E NRK_uc010npc.1_Silent_p.E841E NM_198465 NP_940867 Q7Z2Y5 NRK_HUMAN Nik related kinase 1173 ATP binding|protein serine/threonine kinase activity|small GTPase regulator activity breast(7)|ovary(3)|lung(2)|large_intestine(1)|central_nervous_system(1) 14 GATTCGTAGAAGTACCTGAGG 0.378000 HNSCC(51;0.14) ACTRT1 139741 broad.mit.edu 37 X 127185408 127185408 + Nonsense_Mutation SNP C C A TCGA-CG-5722-01A-21D-1600-08 TCGA-CG-5722-11A-02D-1600-08 Untested Somatic Phase_I WXS none Illumina GAIIx 78d7b4b4-4d1b-42a3-9051-3b84a0b371c4 f209e9fe-c3db-4fe3-bc2f-2f92cee6a331 g.chrX:127185408C>A uc004eum.2 - 1 975 c.778G>T c.(778-780)GAG>TAG p.E260* NM_138289 NP_612146 Q8TDG2 ACTT1_HUMAN actin-related protein T1 260 cytoplasm|cytoskeleton ovary(2)|central_nervous_system(2)|skin(1) 5 AAAAGAACCTCGGGCACTTGG 0.527000 UHRF1BP1 54887 broad.mit.edu 37 6 34827350 34827351 + Splice_Site INS - - T TCGA-CG-5722-01A-21D-1600-08 TCGA-CG-5722-11A-02D-1600-08 Untested Somatic Phase_I WXS none Illumina GAIIx 78d7b4b4-4d1b-42a3-9051-3b84a0b371c4 f209e9fe-c3db-4fe3-bc2f-2f92cee6a331 g.chr6:34827349_34827350G>GT uc003oju.4 + 14 3449 c.3215_splice c.e14+1 p.K1072_splice UHRF1BP1_uc010jvm.2_Splice_Site|UHRF1BP1_uc010jvn.3_Splice_Site|UHRF1BP1_uc010jvo.3_Splice_Site NM_017754 NP_060224 Q6BDS2 URFB1_HUMAN Homo sapiens UHRF1 binding protein 1 (UHRF1BP1), mRNA. 1072 breast(1)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(11)|lung(24)|ovary(3)|prostate(4)|skin(1)|upper_aerodigestive_tract(2) 54 CCCCAGCCAAGTAAGTGGCTCT 0.490 ANKRD55 79722 broad.mit.edu 37 5 55407173 55407173 + Frame_Shift_Del DEL G G - TCGA-CG-5722-01A-21D-1600-08 TCGA-CG-5722-11A-02D-1600-08 Untested Somatic Phase_I WXS none Illumina GAIIx 78d7b4b4-4d1b-42a3-9051-3b84a0b371c4 f209e9fe-c3db-4fe3-bc2f-2f92cee6a331 g.chr5:55407172_55407172TG>T uc003jqu.3 - 9 1555 c.1403_1403CA>A c.(1402-1404)cagfs p.Q468fs ANKRD55_uc003jqt.3_Frame_Shift_Del_p.Q180fs NM_024669 NP_078945 Q3KP44 ANR55_HUMAN Homo sapiens ankyrin repeat domain 55 (ANKRD55), mRNA. 467 breast(1)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(7)|lung(17)|ovary(1)|prostate(1)|skin(2)|stomach(1) 34 Lung NSC(810;8.69e-05)|Prostate(74;0.00634)|Breast(144;0.0334)|Ovarian(174;0.223) CTGAGATCGCTGGGCCATATG 0.493 UHRF1BP1 54887 broad.mit.edu 37 6 34827350 34827351 + Splice_Site INS - - T TCGA-CG-5722-01A-21D-1600-08 TCGA-CG-5722-11A-02D-1600-08 Untested Somatic Phase_I WXS none Illumina GAIIx 78d7b4b4-4d1b-42a3-9051-3b84a0b371c4 f209e9fe-c3db-4fe3-bc2f-2f92cee6a331 g.chr6:34827349_34827350G>GT uc003oju.4 + 14 3449 c.3215_splice c.e14+1 p.K1072_splice UHRF1BP1_uc010jvm.2_Splice_Site|UHRF1BP1_uc010jvn.3_Splice_Site|UHRF1BP1_uc010jvo.3_Splice_Site NM_017754 NP_060224 Q6BDS2 URFB1_HUMAN Homo sapiens UHRF1 binding protein 1 (UHRF1BP1), mRNA. 1072 breast(1)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(11)|lung(24)|ovary(3)|prostate(4)|skin(1)|upper_aerodigestive_tract(2) 54 CCCCAGCCAAGTAAGTGGCTCT 0.490 NF1 4763 broad.mit.edu 37 17 29556080 29556085 + In_Frame_Del DEL GAATGT GAATGT - TCGA-CG-5722-01A-21D-1600-08 TCGA-CG-5722-11A-02D-1600-08 Untested Somatic Phase_I WXS none Illumina GAIIx 78d7b4b4-4d1b-42a3-9051-3b84a0b371c4 f209e9fe-c3db-4fe3-bc2f-2f92cee6a331 g.chr17:29556079_29556084CGAATGT>C uc002hgg.3 + 20 2829_2834 c.2446_2451CGAATGT>C c.(2446-2451)cgaatg>C p.RM816del NF1_uc002hgh.3_In_Frame_Del_p.RM816del|NF1_uc010csn.2_In_Frame_Del_p.RM676del|NF1_uc002hgi.1_5'UTR NM_001042492 NP_001035957 P21359 NF1_HUMAN Homo sapiens neurofibromin 1 (NF1), transcript variant 1, mRNA. 816 MAPKKK cascade|Ras protein signal transduction|actin cytoskeleton organization|adrenal gland development|artery morphogenesis|camera-type eye morphogenesis|cerebral cortex development|collagen fibril organization|forebrain astrocyte development|forebrain morphogenesis|heart development|liver development|metanephros development|myelination in peripheral nervous system|negative regulation of MAP kinase activity|negative regulation of MAPKKK cascade|negative regulation of cell migration|negative regulation of endothelial cell proliferation|negative regulation of neuroblast proliferation|negative regulation of oligodendrocyte differentiation|negative regulation of transcription factor import into nucleus|osteoblast differentiation|phosphatidylinositol 3-kinase cascade|pigmentation|positive regulation of adenylate cyclase activity|positive regulation of neuron apoptosis|regulation of blood vessel endothelial cell migration|regulation of bone resorption|response to hypoxia|smooth muscle tissue development|spinal cord development|sympathetic nervous system development|visual learning|wound healing axon|cytoplasm|dendrite|intrinsic to internal side of plasma membrane|nucleus Ras GTPase activator activity|protein binding p.R816*(8)|p.0?(8)|p.?(4)|p.R815fs*6(1)|p.S818fs*13(1) NF1/ACCN1(2) autonomic_ganglia(12)|breast(11)|central_nervous_system(72)|cervix(6)|endometrium(12)|haematopoietic_and_lymphoid_tissue(59)|kidney(9)|large_intestine(39)|liver(1)|lung(80)|ovary(20)|pancreas(2)|prostate(2)|skin(8)|soft_tissue(249)|stomach(2)|thyroid(1)|upper_aerodigestive_tract(5)|urinary_tract(9) 599 all_cancers(10;1.29e-12)|all_epithelial(10;0.00347)|all_hematologic(16;0.00556)|Acute lymphoblastic leukemia(14;0.00593)|Breast(31;0.014)|Myeloproliferative disorder(56;0.0255)|all_lung(9;0.0321)|Lung NSC(157;0.0659) UCEC - Uterine corpus endometrioid carcinoma (4;4.38e-05)|all cancers(4;1.64e-26)|Epithelial(4;9.15e-23)|OV - Ovarian serous cystadenocarcinoma(4;3.58e-21)|GBM - Glioblastoma multiforme(4;0.00146) TGTTAAGAGGCGAATGTCCCATGTGA 0.427 """D, Mis, N, F, S, O""" """neurofibroma, glioma""" """neurofibroma, glioma""" Neurofibromatosis, type 1 TCGA GBM(6;<1E-08)|TSP Lung(7;0.0071)|TCGA Ovarian(3;0.0088) TUBD1 51174 broad.mit.edu 37 17 57968199 57968201 + In_Frame_Del DEL CTC CTC - TCGA-CG-5722-01A-21D-1600-08 TCGA-CG-5722-11A-02D-1600-08 Untested Somatic Phase_I WXS none Illumina GAIIx 78d7b4b4-4d1b-42a3-9051-3b84a0b371c4 f209e9fe-c3db-4fe3-bc2f-2f92cee6a331 g.chr17:57968198_57968200TCTC>T uc002ixw.2 - 1 452_454 c.164_166GAGA>A c.(163-168)gagaat>gAat p.N56del TUBD1_uc010wok.2_In_Frame_Del_p.N56del|TUBD1_uc010ddf.2_In_Frame_Del_p.N56del|TUBD1_uc010wol.2_Intron|TUBD1_uc010ddg.2_In_Frame_Del_p.N21del|TUBD1_uc010ddi.2_In_Frame_Del_p.N56del|TUBD1_uc010ddh.2_5'UTR|TUBD1_uc002ixx.2_In_Frame_Del_p.N56del|RPS6KB1_uc010ddj.2_5'Flank|RPS6KB1_uc002ixy.3_5'Flank|RPS6KB1_uc010wom.2_5'Flank|RPS6KB1_uc010won.2_5'Flank NM_016261 NP_001180542 Q9UJT1 TBD_HUMAN Homo sapiens tubulin, delta 1 (TUBD1), transcript variant 1, mRNA. 56 cell differentiation|microtubule-based movement|multicellular organismal development|protein polymerization|spermatogenesis centriole|microtubule|nucleus GTP binding|GTPase activity|structural molecule activity NS(2)|breast(2)|kidney(1)|large_intestine(3)|lung(7)|ovary(1)|prostate(2)|skin(1)|stomach(2) 21 all_cancers(5;3.18e-13)|Breast(5;2.91e-25)|all_neural(34;0.0878)|Medulloblastoma(34;0.0922) Epithelial(12;9.34e-13)|all cancers(12;1.91e-11) CTACCTCCATTCTCCTCCTCACT 0.483