Hugo_Symbol Entrez_Gene_Id Center NCBI_Build Chromosome Start_position End_position Strand Variant_Classification Variant_Type Reference_Allele Tumor_Seq_Allele1 Tumor_Seq_Allele2 dbSNP_RS dbSNP_Val_Status Tumor_Sample_Barcode Matched_Norm_Sample_Barcode Match_Norm_Seq_Allele1 Match_Norm_Seq_Allele2 Tumor_Validation_Allele1 Tumor_Validation_Allele2 Match_Norm_Validation_Allele1 Match_Norm_Validation_Allele2 Verification_Status Validation_Status Mutation_Status Sequencing_Phase Sequence_Source Validation_Method Score BAM_file Sequencer Tumor_Sample_UUID Matched_Norm_Sample_UUID Genome_Change Annotation_Transcript Transcript_Strand Transcript_Exon Transcript_Position cDNA_Change Codon_Change Protein_Change Other_Transcripts Refseq_mRNA_Id Refseq_prot_Id SwissProt_acc_Id SwissProt_entry_Id Description UniProt_AApos UniProt_Region UniProt_Site UniProt_Natural_Variations UniProt_Experimental_Info GO_Biological_Process GO_Cellular_Component GO_Molecular_Function COSMIC_overlapping_mutations COSMIC_fusion_genes COSMIC_tissue_types_affected COSMIC_total_alterations_in_gene Tumorscape_Amplification_Peaks Tumorscape_Deletion_Peaks TCGAscape_Amplification_Peaks TCGAscape_Deletion_Peaks DrugBank ref_context gc_content CCLE_ONCOMAP_overlapping_mutations CCLE_ONCOMAP_total_mutations_in_gene CGC_Mutation_Type CGC_Translocation_Partner CGC_Tumor_Types_Somatic CGC_Tumor_Types_Germline CGC_Other_Diseases DNARepairGenes_Role FamilialCancerDatabase_Syndromes MUTSIG_Published_Results OREGANNO_ID OREGANNO_Values t_alt_count t_ref_count validation_status validation_method validation_tumor_sample validation_alt_allele pox qox isArtifactMode oxoGCut CACHD1 57685 broad.mit.edu 37 1 65047921 65047921 + Missense_Mutation SNP C C T TCGA-CQ-5330-01A-01D-1683-08 TCGA-CQ-5330-10A-01D-1683-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 4ce7e702-9b62-459e-b2b4-a26cabba3a93 690340f2-8307-43ea-ac77-21828b243e05 g.chr1:65047921C>T uc001dbo.1 + 3 296 c.191C>T c.(190-192)ACG>ATG p.T64M CACHD1_uc001dbp.1_Translation_Start_Site|CACHD1_uc001dbq.1_Translation_Start_Site NM_020925 NP_065976 Q5VU97 CAHD1_HUMAN cache domain containing 1 115 Extracellular (Potential). calcium ion transport integral to membrane ovary(2) 2 GCATCCTATACGGCTCACCTA 0.428 NA 29 70 0 0 0 0 AHCYL1 10768 broad.mit.edu 37 1 110563392 110563392 + Missense_Mutation SNP C C T TCGA-CQ-5330-01A-01D-1683-08 TCGA-CQ-5330-10A-01D-1683-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 4ce7e702-9b62-459e-b2b4-a26cabba3a93 690340f2-8307-43ea-ac77-21828b243e05 g.chr1:110563392C>T uc001dyx.2 + 16 1872 c.1505C>T c.(1504-1506)GCC>GTC p.A502V AHCYL1_uc010ovw.1_Missense_Mutation_p.A455V|AHCYL1_uc001dyy.2_Missense_Mutation_p.A455V|AHCYL1_uc010ovx.1_Missense_Mutation_p.A455V NM_006621 NP_006612 O43865 SAHH2_HUMAN S-adenosylhomocysteine hydrolase-like 1 502 one-carbon metabolic process endoplasmic reticulum adenosylhomocysteinase activity ovary(1) 1 all_epithelial(167;3.58e-05)|all_lung(203;0.000116)|Lung NSC(277;0.000233) Lung(183;0.0259)|Colorectal(144;0.123)|all cancers(265;0.134)|Epithelial(280;0.141)|LUSC - Lung squamous cell carcinoma(189;0.143) TCATTTGATGCCCACCTTACA 0.433 NA 4 153 0 0 0 0 SPAG17 200162 broad.mit.edu 37 1 118629569 118629569 + Silent SNP G G A TCGA-CQ-5330-01A-01D-1683-08 TCGA-CQ-5330-10A-01D-1683-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 4ce7e702-9b62-459e-b2b4-a26cabba3a93 690340f2-8307-43ea-ac77-21828b243e05 g.chr1:118629569G>A uc001ehk.2 - 11 1490 c.1422C>T c.(1420-1422)GAC>GAT p.D474D NM_206996 NP_996879 Q6Q759 SPG17_HUMAN sperm associated antigen 17 474 cilium|flagellar axoneme|microtubule upper_aerodigestive_tract(2)|ovary(2)|large_intestine(1)|skin(1) 6 Esophageal squamous(2;0.0106) all_cancers(81;0.0204)|all_lung(203;9.46e-05)|Lung NSC(69;0.000675)|all_epithelial(167;0.01) Lung(183;0.0858) GGTCTAGCCCGTCTGCTCTGG 0.517 NA 28 59 0 0 0 0 NBPF10 100132406 broad.mit.edu 37 1 145302714 145302714 + Silent SNP A A G rs9424867 TCGA-CQ-5330-01A-01D-1683-08 TCGA-CQ-5330-10A-01D-1683-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 4ce7e702-9b62-459e-b2b4-a26cabba3a93 690340f2-8307-43ea-ac77-21828b243e05 g.chr1:145302714A>G uc001end.3 + 8 1187 c.1152A>G c.(1150-1152)TTA>TTG p.L384L NBPF10_uc009wir.2_Intron|NBPF9_uc010oye.1_Intron|NBPF9_uc010oyf.1_Intron|NBPF9_uc010oyg.1_Intron|NBPF10_uc001emp.3_Intron|NBPF10_uc010oyi.1_5'UTR|NBPF10_uc001emq.1_Silent_p.L113L NM_001039703 NP_001034792 A6NDV3 A6NDV3_HUMAN hypothetical protein LOC100132406 Error:AA_residue_mismatch_between_GAF_and_UniProt_prot_seqs_after_alignment 0 all_hematologic(923;0.032) Colorectal(1306;1.36e-07)|KIRC - Kidney renal clear cell carcinoma(1967;0.00258) AGGAGAAGTTACGGGAAGGGA 0.527 NA 11 31 0 0 0 0 ADAMTS4 9507 broad.mit.edu 37 1 161160954 161160954 + Missense_Mutation SNP G G A rs114728887 by1000genomes TCGA-CQ-5330-01A-01D-1683-08 TCGA-CQ-5330-10A-01D-1683-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 4ce7e702-9b62-459e-b2b4-a26cabba3a93 690340f2-8307-43ea-ac77-21828b243e05 g.chr1:161160954G>A uc001fyt.3 - 9 2916 c.2488C>T c.(2488-2490)CGG>TGG p.R830W NM_005099 NP_005090 O75173 ATS4_HUMAN ADAM metallopeptidase with thrombospondin type 1 830 Spacer. proteolysis|skeletal system development extracellular space|proteinaceous extracellular matrix metalloendopeptidase activity|protease binding|zinc ion binding ovary(4)|central_nervous_system(1) 5 all_cancers(52;3.73e-19)|Breast(13;0.000577)|all_hematologic(112;0.093) BRCA - Breast invasive adenocarcinoma(70;0.00275) CAGGGGCGCCGCCGAAGGATC 0.637 NA 11 26 0 0 0 0 TNR 7143 broad.mit.edu 37 1 175375720 175375720 + Missense_Mutation SNP G G A TCGA-CQ-5330-01A-01D-1683-08 TCGA-CQ-5330-10A-01D-1683-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 4ce7e702-9b62-459e-b2b4-a26cabba3a93 690340f2-8307-43ea-ac77-21828b243e05 g.chr1:175375720G>A uc001gkp.1 - 1 212 c.131C>T c.(130-132)TCA>TTA p.S44L TNR_uc009wwu.1_Missense_Mutation_p.S44L|TNR_uc010pmz.1_Missense_Mutation_p.S44L NM_003285 NP_003276 Q92752 TENR_HUMAN tenascin R precursor 44 axon guidance|cell adhesion|signal transduction proteinaceous extracellular matrix pancreas(5)|ovary(4)|central_nervous_system(1)|skin(1) 11 Renal(580;0.146) CTCCTCCACTGACTGTCTCTG 0.517 NA 19 115 0 0 0 0 ACTA1 58 broad.mit.edu 37 1 229568748 229568748 + Missense_Mutation SNP G G A TCGA-CQ-5330-01A-01D-1683-08 TCGA-CQ-5330-10A-01D-1683-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 4ce7e702-9b62-459e-b2b4-a26cabba3a93 690340f2-8307-43ea-ac77-21828b243e05 g.chr1:229568748G>A uc001htm.2 - 2 220 c.115C>T c.(115-117)CGC>TGC p.R39C NM_001100 NP_001091 P68133 ACTS_HUMAN actin, alpha 1, skeletal muscle 39 muscle filament sliding|skeletal muscle fiber development|skeletal muscle thin filament assembly actin filament|cytosol|stress fiber|striated muscle thin filament ADP binding|ATP binding|myosin binding|structural constituent of cytoskeleton 0 Breast(184;0.0858)|Ovarian(103;0.103) Prostate(94;0.167) Dornase Alfa(DB00003) TGTCGGGGGCGGCCCACGATG 0.726 NA 5 33 0 0 0 0 TMEM72 643236 broad.mit.edu 37 10 45430313 45430313 + Missense_Mutation SNP A A G TCGA-CQ-5330-01A-01D-1683-08 TCGA-CQ-5330-10A-01D-1683-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 4ce7e702-9b62-459e-b2b4-a26cabba3a93 690340f2-8307-43ea-ac77-21828b243e05 g.chr10:45430313A>G uc001jbn.2 + 5 756 c.559A>G c.(559-561)AAG>GAG p.K187E uc001jbk.1_Intron|uc001jbl.2_Intron|TMEM72_uc009xmm.1_Missense_Mutation_p.K69E NM_001123376 NP_001116848 A0PK05 TMM72_HUMAN transmembrane protein 72 187 integral to membrane 0 CATCCACATGAAGAGTATCCT 0.602 NA 46 156 0 0 0 0 PSAP 5660 broad.mit.edu 37 10 73578462 73578462 + Missense_Mutation SNP G G A TCGA-CQ-5330-01A-01D-1683-08 TCGA-CQ-5330-10A-01D-1683-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 4ce7e702-9b62-459e-b2b4-a26cabba3a93 690340f2-8307-43ea-ac77-21828b243e05 g.chr10:73578462G>A uc001jsm.2 - 13 1555 c.1451C>T c.(1450-1452)TCG>TTG p.S484L PSAP_uc001jsl.2_Missense_Mutation_p.S208L NM_002778 NP_002769 P07602 SAP_HUMAN prosaposin isoform a preproprotein 484 Saposin B-type 4. glycosphingolipid metabolic process|lipid transport|platelet activation|platelet degranulation extracellular space|Golgi apparatus|integral to membrane|lysosomal lumen enzyme activator activity|lipid binding ovary(1) 1 CTTATGGGCCGAGGGGCAGGC 0.488 NA 8 125 0 0 0 0 ARL3 403 broad.mit.edu 37 10 104445679 104445679 + Missense_Mutation SNP G G A rs150077149 TCGA-CQ-5330-01A-01D-1683-08 TCGA-CQ-5330-10A-01D-1683-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 4ce7e702-9b62-459e-b2b4-a26cabba3a93 690340f2-8307-43ea-ac77-21828b243e05 g.chr10:104445679G>A uc001kwa.2 - 5 553 c.395C>T c.(394-396)ACA>ATA p.T132I NM_004311 NP_004302 P36405 ARL3_HUMAN ADP-ribosylation factor-like 3 132 cell cycle|cytokinesis|small GTPase mediated signal transduction centrosome|cytoplasmic microtubule|Golgi membrane|midbody|nucleus|photoreceptor connecting cilium|spindle microtubule GDP binding|GTP binding|metal ion binding|microtubule binding 0 Colorectal(252;0.122) Epithelial(162;4.88e-09)|all cancers(201;1.29e-07)|BRCA - Breast invasive adenocarcinoma(275;0.22) AGGGGCTGCTGTGAGCAAATC 0.507 NA 15 43 0 0 0 0 TH 7054 broad.mit.edu 37 11 2191095 2191095 + Missense_Mutation SNP G G A TCGA-CQ-5330-01A-01D-1683-08 TCGA-CQ-5330-10A-01D-1683-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 4ce7e702-9b62-459e-b2b4-a26cabba3a93 690340f2-8307-43ea-ac77-21828b243e05 g.chr11:2191095G>A uc001lvq.2 - 3 209 c.190C>T c.(190-192)CGG>TGG p.R64W TH_uc001lvp.2_Missense_Mutation_p.R60W|TH_uc001lvr.2_Missense_Mutation_p.R33W|TH_uc010qxj.1_Missense_Mutation_p.R37W|TH_uc001lvs.2_Missense_Mutation_p.R33W|TH_uc001lvt.2_Missense_Mutation_p.R37W|TH_uc009ydh.1_5'Flank NM_199292 NP_954986 P07101 TY3H_HUMAN tyrosine hydroxylase isoform a 64 dopamine biosynthetic process from tyrosine|embryonic camera-type eye morphogenesis|epinephrine biosynthetic process|eye photoreceptor cell development|heart morphogenesis|hormone biosynthetic process|learning|locomotory behavior|memory|neurotransmitter biosynthetic process|neurotransmitter secretion|norepinephrine biosynthetic process|pigmentation|regulation of heart contraction|response to ethanol|response to hypoxia|synaptic transmission, dopaminergic|visual perception cytosol|internal side of plasma membrane|melanosome membrane|nucleus|perikaryon|smooth endoplasmic reticulum protein binding|tyrosine 3-monooxygenase activity 0 all_epithelial(84;1.46e-23)|Lung NSC(207;4.44e-11)|all_lung(207;1.11e-09)|Ovarian(85;1.78e-06)|Breast(177;1.78e-05)|Medulloblastoma(188;0.0208)|all_neural(188;0.0416) Colorectal(5;0.00245)|COAD - Colon adenocarcinoma(6;0.0239) BRCA - Breast invasive adenocarcinoma(625;8.45e-09)|Lung(200;0.000152)|LUSC - Lung squamous cell carcinoma(625;0.00154) L-Phenylalanine(DB00120)|L-Tyrosine(DB00135)|Metyrosine(DB00765)|Tetrahydrobiopterin(DB00360) CCAATGAACCGCGGGGACTGT 0.721 NA 3 10 0 0 0 0 AHNAK 79026 broad.mit.edu 37 11 62290908 62290908 + Missense_Mutation SNP T T C TCGA-CQ-5330-01A-01D-1683-08 TCGA-CQ-5330-10A-01D-1683-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 4ce7e702-9b62-459e-b2b4-a26cabba3a93 690340f2-8307-43ea-ac77-21828b243e05 g.chr11:62290908T>C uc001ntl.2 - 5 11281 c.10981A>G c.(10981-10983)ATG>GTG p.M3661V AHNAK_uc001ntk.1_Intron NM_001620 NP_001611 Q09666 AHNK_HUMAN AHNAK nucleoprotein isoform 1 3661 nervous system development nucleus protein binding ovary(10)|pancreas(4)|skin(4)|upper_aerodigestive_tract(1) 19 Melanoma(852;0.155) ATCTCAGGCATCTTGAACTTG 0.468 NA 55 177 0 0 0 0 PYGM 5837 broad.mit.edu 37 11 64521023 64521023 + Silent SNP C C T TCGA-CQ-5330-01A-01D-1683-08 TCGA-CQ-5330-10A-01D-1683-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 4ce7e702-9b62-459e-b2b4-a26cabba3a93 690340f2-8307-43ea-ac77-21828b243e05 g.chr11:64521023C>T uc001oax.3 - 11 2188 c.1371G>A c.(1369-1371)GCG>GCA p.A457A PYGM_uc001oay.3_Silent_p.A369A NM_005609 NP_005600 P11217 PYGM_HUMAN muscle glycogen phosphorylase isoform 1 457 glucose metabolic process|glycogen catabolic process cytosol glycogen phosphorylase activity|protein binding ovary(2) 2 Pyridoxal Phosphate(DB00114) AGTGGATGCGCGCCACGCCGT 0.652 NA 3 5 0 0 0 0 FEZ1 9638 broad.mit.edu 37 11 125359382 125359382 + Nonsense_Mutation SNP C C A TCGA-CQ-5330-01A-01D-1683-08 TCGA-CQ-5330-10A-01D-1683-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 4ce7e702-9b62-459e-b2b4-a26cabba3a93 690340f2-8307-43ea-ac77-21828b243e05 g.chr11:125359382C>A uc001qbx.2 - 2 444 c.292G>T c.(292-294)GAG>TAG p.E98* FEZ1_uc010sbc.1_Nonsense_Mutation_p.E98*|FEZ1_uc001qby.1_Nonsense_Mutation_p.E98* NM_005103 NP_005094 Q99689 FEZ1_HUMAN zygin 1 isoform 1 98 Poly-Glu. axon guidance|cell adhesion|transport microtubule|plasma membrane central_nervous_system(3)|ovary(1) 4 all_hematologic(175;0.228) Breast(109;0.0021)|Lung NSC(97;0.0126)|all_lung(97;0.0132)|Medulloblastoma(222;0.0425)|all_neural(223;0.112) BRCA - Breast invasive adenocarcinoma(274;1.49e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0934) TGAAGGGTCTCCTCCTCCTCT 0.493 NA 7 61 0.00198382 0.00217653 1 0 HSP90B1 7184 broad.mit.edu 37 12 104340443 104340443 + Missense_Mutation SNP C C T TCGA-CQ-5330-01A-01D-1683-08 TCGA-CQ-5330-10A-01D-1683-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 4ce7e702-9b62-459e-b2b4-a26cabba3a93 690340f2-8307-43ea-ac77-21828b243e05 g.chr12:104340443C>T uc001tkb.1 + 15 2180 c.2075C>T c.(2074-2076)CCG>CTG p.P692L HSP90B1_uc010swg.1_Missense_Mutation_p.P357L|HSP90B1_uc009zui.1_Intron NM_003299 NP_003290 P14625 ENPL_HUMAN heat shock protein 90kDa beta, member 1 692 actin rod assembly|anti-apoptosis|cellular response to ATP|ER-associated protein catabolic process|protein folding|protein transport|regulation of phosphoprotein phosphatase activity|response to hypoxia|sequestering of calcium ion cytosol|endoplasmic reticulum lumen|endoplasmic reticulum membrane|melanosome|microsome|midbody|perinuclear region of cytoplasm ATP binding|calcium ion binding|low-density lipoprotein particle receptor binding|protein phosphatase binding|RNA binding|unfolded protein binding|virion binding ovary(2)|skin(1) 3 Rifabutin(DB00615) CCCAGACACCCGCTGATCAGA 0.323 NA 14 60 0 0 0 0 KSR2 283455 broad.mit.edu 37 12 118199176 118199176 + Missense_Mutation SNP T T C TCGA-CQ-5330-01A-01D-1683-08 TCGA-CQ-5330-10A-01D-1683-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 4ce7e702-9b62-459e-b2b4-a26cabba3a93 690340f2-8307-43ea-ac77-21828b243e05 g.chr12:118199176T>C uc001two.2 - 4 594 c.539A>G c.(538-540)TAT>TGT p.Y180C NM_173598 NP_775869 Q6VAB6 KSR2_HUMAN kinase suppressor of ras 2 209 Pro-rich. intracellular signal transduction cytoplasm|membrane ATP binding|metal ion binding|protein serine/threonine kinase activity lung(10)|central_nervous_system(2)|stomach(1)|large_intestine(1)|breast(1) 15 all_neural(191;0.0804)|Medulloblastoma(191;0.0922) GGTGTGACAATAGTGCTGGAC 0.687 NA 7 19 0 0 0 0 GCN1L1 10985 broad.mit.edu 37 12 120621395 120621395 + Missense_Mutation SNP G G T TCGA-CQ-5330-01A-01D-1683-08 TCGA-CQ-5330-10A-01D-1683-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 4ce7e702-9b62-459e-b2b4-a26cabba3a93 690340f2-8307-43ea-ac77-21828b243e05 g.chr12:120621395G>T uc001txo.2 - 5 416 c.403C>A c.(403-405)CAA>AAA p.Q135K NM_006836 NP_006827 Q92616 GCN1L_HUMAN GCN1 general control of amino-acid synthesis 135 regulation of translation ribosome protein binding|translation factor activity, nucleic acid binding ovary(4) 4 all_neural(191;0.0804)|Medulloblastoma(191;0.0922) ATGTCTCCTTGTCGCTTGGCT 0.542 NA 3 73 0.00909568 0.00970206 1 0 FEM1B 10116 broad.mit.edu 37 15 68582025 68582025 + Missense_Mutation SNP A A G TCGA-CQ-5330-01A-01D-1683-08 TCGA-CQ-5330-10A-01D-1683-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 4ce7e702-9b62-459e-b2b4-a26cabba3a93 690340f2-8307-43ea-ac77-21828b243e05 g.chr15:68582025A>G uc002arg.2 + 2 944 c.329A>G c.(328-330)CAT>CGT p.H110R FEM1B_uc002arh.2_Missense_Mutation_p.H30R NM_015322 NP_056137 Q9UK73 FEM1B_HUMAN fem-1 homolog b 110 ANK 2. apoptosis|induction of apoptosis|regulation of DNA damage checkpoint|regulation of ubiquitin-protein ligase activity cytoplasm|nucleus death receptor binding|ubiquitin-protein ligase activity 0 CTAGTCAGCCATGGAGCCAAC 0.448 NA 10 24 0 0 0 0 DNAH3 55567 broad.mit.edu 37 16 20999384 20999384 + Missense_Mutation SNP C C T TCGA-CQ-5330-01A-01D-1683-08 TCGA-CQ-5330-10A-01D-1683-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 4ce7e702-9b62-459e-b2b4-a26cabba3a93 690340f2-8307-43ea-ac77-21828b243e05 g.chr16:20999384C>T uc010vbe.1 - 45 6605 c.6605G>A c.(6604-6606)CGA>CAA p.R2202Q DNAH3_uc010vbd.1_5'Flank NM_017539 NP_060009 Q8TD57 DYH3_HUMAN dynein, axonemal, heavy chain 3 2202 AAA 3 (By similarity). ciliary or flagellar motility|microtubule-based movement axonemal dynein complex|cilium axoneme|cytoplasm|microtubule ATP binding|microtubule motor activity ovary(10)|skin(3)|large_intestine(2)|central_nervous_system(2)|upper_aerodigestive_tract(1) 18 GBM - Glioblastoma multiforme(48;0.207) GCGAGTGAATCGTCCTGGGGA 0.453 NA 14 46 0 0 0 0 PHKB 5257 broad.mit.edu 37 16 47644777 47644777 + Silent SNP G G A TCGA-CQ-5330-01A-01D-1683-08 TCGA-CQ-5330-10A-01D-1683-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 4ce7e702-9b62-459e-b2b4-a26cabba3a93 690340f2-8307-43ea-ac77-21828b243e05 g.chr16:47644777G>A uc002eev.3 + 14 1456 c.1404G>A c.(1402-1404)CAG>CAA p.Q468Q PHKB_uc002eeu.3_Silent_p.Q461Q NM_000293 NP_000284 Q93100 KPBB_HUMAN phosphorylase kinase, beta isoform a 468 glucose metabolic process|glycogen catabolic process cytosol|plasma membrane calmodulin binding|glucan 1,4-alpha-glucosidase activity ovary(1)|large_intestine(1)|breast(1) 3 all_cancers(37;0.00447)|all_lung(18;0.00616)|Lung NSC(13;0.0418)|Breast(268;0.203) ATCCTGTCCAGCGCTATGTCC 0.338 NA 13 34 0 0 0 0 RPGRIP1L 23322 broad.mit.edu 37 16 53686477 53686477 + Missense_Mutation SNP C C A TCGA-CQ-5330-01A-01D-1683-08 TCGA-CQ-5330-10A-01D-1683-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 4ce7e702-9b62-459e-b2b4-a26cabba3a93 690340f2-8307-43ea-ac77-21828b243e05 g.chr16:53686477C>A uc002ehp.2 - 15 2186 c.2122G>T c.(2122-2124)GGC>TGC p.G708C RPGRIP1L_uc002eho.3_Missense_Mutation_p.G708C|RPGRIP1L_uc010vgy.1_Missense_Mutation_p.G708C|RPGRIP1L_uc010cbx.2_Missense_Mutation_p.G708C|RPGRIP1L_uc010vgz.1_Missense_Mutation_p.G708C NM_015272 NP_056087 Q68CZ1 FTM_HUMAN RPGRIP1-like isoform a 708 C2 1. negative regulation of G-protein coupled receptor protein signaling pathway cell-cell junction|centrosome|cilium axoneme|microtubule basal body thromboxane A2 receptor binding ovary(1) 1 all_cancers(37;0.0973) AATATTCGGCCGCTTTTTTCA 0.348 NA 14 38 0.00316338 0.00343146 1 0 ZFHX3 463 broad.mit.edu 37 16 72830437 72830437 + Silent SNP T T G TCGA-CQ-5330-01A-01D-1683-08 TCGA-CQ-5330-10A-01D-1683-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 4ce7e702-9b62-459e-b2b4-a26cabba3a93 690340f2-8307-43ea-ac77-21828b243e05 g.chr16:72830437T>G uc002fck.2 - 9 6817 c.6144A>C c.(6142-6144)CCA>CCC p.P2048P ZFHX3_uc002fcl.2_Silent_p.P1134P NM_006885 NP_008816 Q15911 ZFHX3_HUMAN zinc finger homeobox 3 isoform A 2048 Poly-Pro. muscle organ development|negative regulation of myoblast differentiation|negative regulation of transcription from RNA polymerase II promoter|negative regulation of transcription, DNA-dependent|positive regulation of myoblast differentiation transcription factor complex enzyme binding|sequence-specific DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|transcription regulatory region DNA binding|zinc ion binding ovary(2)|skin(2) 4 Ovarian(137;0.13) GAAGTGGGGGTGGAGGGGGTG 0.642 NA 4 28 0 0 0 0 CBFA2T3 863 broad.mit.edu 37 16 88958773 88958773 + Missense_Mutation SNP G G T TCGA-CQ-5330-01A-01D-1683-08 TCGA-CQ-5330-10A-01D-1683-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 4ce7e702-9b62-459e-b2b4-a26cabba3a93 690340f2-8307-43ea-ac77-21828b243e05 g.chr16:88958773G>T uc002fmm.1 - 4 686 c.500C>A c.(499-501)CCA>CAA p.P167Q CBFA2T3_uc002fml.1_Missense_Mutation_p.P81Q|CBFA2T3_uc010cif.1_Missense_Mutation_p.P106Q|CBFA2T3_uc002fmn.1_Missense_Mutation_p.P142Q NM_005187 NP_005178 O75081 MTG16_HUMAN myeloid translocation gene on chromosome 16 167 Mediates localization to the nucleus (By similarity).|Mediates interaction with PDE7A (in isoform 2). cell proliferation|granulocyte differentiation Golgi membrane|nucleolus|nucleoplasm protein binding|sequence-specific DNA binding transcription factor activity|zinc ion binding large_intestine(3)|ovary(1) 4 BRCA - Breast invasive adenocarcinoma(80;0.0275) CCCGCAGGCTGGGGGCAGGTG 0.647 NA T RUNX1 AML 18 23 4.35e-09 5.06e-09 1 0 POLR2A 5430 broad.mit.edu 37 17 7399844 7399844 + Missense_Mutation SNP G G A TCGA-CQ-5330-01A-01D-1683-08 TCGA-CQ-5330-10A-01D-1683-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 4ce7e702-9b62-459e-b2b4-a26cabba3a93 690340f2-8307-43ea-ac77-21828b243e05 g.chr17:7399844G>A uc002ghf.3 + 4 683 c.449G>A c.(448-450)GGC>GAC p.G150D POLR2A_uc002ghe.2_Missense_Mutation_p.G150D NM_000937 NP_000928 P24928 RPB1_HUMAN DNA-directed RNA polymerase II A 150 mRNA capping|nuclear mRNA splicing, via spliceosome|positive regulation of viral transcription|protein phosphorylation|regulation of transcription, DNA-dependent|transcription elongation from RNA polymerase II promoter|transcription initiation from RNA polymerase II promoter|transcription-coupled nucleotide-excision repair|viral reproduction DNA-directed RNA polymerase II, core complex DNA binding|DNA-directed RNA polymerase activity|metal ion binding|RNA-directed RNA polymerase activity|ubiquitin protein ligase binding pancreas(1) 1 Prostate(122;0.173) CTTTGCAAGGGCAAAAACATA 0.537 NA 4 158 0 0 0 0 TP53 7157 broad.mit.edu 37 17 7577142 7577142 + Missense_Mutation SNP C C T TCGA-CQ-5330-01A-01D-1683-08 TCGA-CQ-5330-10A-01D-1683-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 4ce7e702-9b62-459e-b2b4-a26cabba3a93 690340f2-8307-43ea-ac77-21828b243e05 g.chr17:7577142C>T uc002gim.2 - 8 990 c.796G>A c.(796-798)GGA>AGA p.G266R TP53_uc002gig.1_Intron|TP53_uc002gih.2_Missense_Mutation_p.G266R|TP53_uc010cne.1_5'Flank|TP53_uc010cnf.1_Missense_Mutation_p.G134R|TP53_uc010cng.1_Missense_Mutation_p.G134R|TP53_uc002gii.1_Missense_Mutation_p.G134R|TP53_uc010cnh.1_Missense_Mutation_p.G266R|TP53_uc010cni.1_Missense_Mutation_p.G266R|TP53_uc002gij.2_Missense_Mutation_p.G266R NM_001126112 NP_001119584 P04637 P53_HUMAN tumor protein p53 isoform a 266 |Interaction with E4F1.|Interaction with HIPK1 (By similarity).|Interaction with AXIN1 (By similarity). G -> R (in sporadic cancers; somatic mutation).|G -> V (in sporadic cancers; somatic mutation).|G -> E (in sporadic cancers; somatic mutation).|G -> A (in sporadic cancers; somatic mutation). activation of caspase activity by cytochrome c|base-excision repair|blood coagulation|cell cycle arrest|cell differentiation|cell proliferation|cellular protein localization|cellular response to drug|cellular response to glucose starvation|cellular response to hypoxia|cellular response to ionizing radiation|cellular response to UV|determination of adult lifespan|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|ER overload response|interspecies interaction between organisms|negative regulation of apoptosis|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of helicase activity|negative regulation of transcription from RNA polymerase II promoter|negative regulation of transcription from RNA polymerase II promoter|nucleotide-excision repair|oxidative stress-induced premature senescence|positive regulation of histone deacetylation|positive regulation of neuron apoptosis|positive regulation of peptidyl-tyrosine phosphorylation|positive regulation of reactive oxygen species metabolic process|positive regulation of thymocyte apoptosis|positive regulation of transcription from RNA polymerase II promoter|positive regulation of transcription from RNA polymerase II promoter|protein localization|protein tetramerization|Ras protein signal transduction|regulation of mitochondrial membrane permeability|replicative senescence|response to antibiotic|response to gamma radiation|response to X-ray cytoplasm|cytosol|endoplasmic reticulum|insoluble fraction|mitochondrion|nuclear chromatin|nuclear matrix|nucleolus|nucleus|PML body|protein complex|replication fork ATP binding|chaperone binding|chromatin binding|copper ion binding|damaged DNA binding|DNA strand annealing activity|histone acetyltransferase binding|p53 binding|protease binding|protein binding|protein heterodimerization activity|protein kinase binding|protein N-terminus binding|protein phosphatase 2A binding|RNA polymerase II transcription factor binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|transcription regulatory region DNA binding|transcription repressor activity|ubiquitin protein ligase binding|zinc ion binding p.G266E(45)|p.G266R(42)|p.G266V(31)|p.G266*(12)|p.0?(7)|p.G266fs*79(5)|p.?(3)|p.G262_F270delGNLLGRNSF(2)|p.G266A(2)|p.G266G(2)|p.G266_E271delGRNSFE(2)|p.G262_S269delGNLLGRNS(2)|p.G266fs*4(1)|p.G266T(1)|p.L265_K305del41(1)|p.E258fs*71(1)|p.G266fs*9(1)|p.L265_R267delLGR(1)|p.G266_N268delGRN(1)|p.G262fs*2(1) large_intestine(4656)|breast(2429)|upper_aerodigestive_tract(2212)|lung(2028)|ovary(1592)|oesophagus(1462)|haematopoietic_and_lymphoid_tissue(1228)|stomach(1136)|urinary_tract(1114)|central_nervous_system(1085)|liver(805)|skin(694)|pancreas(375)|biliary_tract(247)|soft_tissue(209)|prostate(194)|endometrium(150)|bone(102)|vulva(79)|kidney(79)|cervix(68)|thyroid(54)|salivary_gland(43)|adrenal_gland(37)|peritoneum(33)|eye(24)|thymus(21)|genital_tract(16)|autonomic_ganglia(16)|small_intestine(14)|testis(11)|penis(10)|vagina(6)|meninges(5)|pituitary(4)|pleura(3)|gastrointestinal_tract_(site_indeterminate)(1)|NS(1)|Fallopian tube(1)|placenta(1) 22245 all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081) GBM - Glioblastoma multiforme(2;1.59e-06)|READ - Rectum adenocarcinoma(115;0.174) CTGTTCCGTCCCAGTAGATTA 0.517 111 Mis|N|F breast|colorectal|lung|sarcoma|adrenocortical|glioma|multiple other tumour types breast|sarcoma|adrenocortical carcinoma|glioma|multiple other tumour types Other_conserved_DNA_damage_response_genes Hereditary_Adrenocortical_Cancer|Endometrial_Cancer_Familial_Clustering_of|Hereditary_Breast-Ovarian_Cancer_non-BRCA1/2|Li-Fraumeni_syndrome|Osteosarcoma_Familial_Clustering_of HNSCC(1;<9.43e-08)|TCGA GBM(1;<1E-08)|TSP Lung(2;<1E-08)|TCGA Ovarian(1;<1.89e-07)|Multiple Myeloma(5;0.019) 6 11 0 0 0 0 PSMD11 5717 broad.mit.edu 37 17 30796051 30796051 + Silent SNP C C T TCGA-CQ-5330-01A-01D-1683-08 TCGA-CQ-5330-10A-01D-1683-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 4ce7e702-9b62-459e-b2b4-a26cabba3a93 690340f2-8307-43ea-ac77-21828b243e05 g.chr17:30796051C>T uc010cta.1 + 6 523 c.483C>T c.(481-483)GAC>GAT p.D161D PSMD11_uc010wbz.1_Silent_p.D161D|PSMD11_uc002hhm.2_Silent_p.D161D NM_002815 NP_002806 O00231 PSD11_HUMAN proteasome 26S non-ATPase subunit 11 161 anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|G1/S transition of mitotic cell cycle|M/G1 transition of mitotic cell cycle|mRNA metabolic process|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|regulation of apoptosis|regulation of cellular amino acid metabolic process|S phase of mitotic cell cycle|viral reproduction proteasome complex protein binding ovary(1) 1 Breast(31;0.159)|Ovarian(249;0.182) BRCA - Breast invasive adenocarcinoma(9;0.109) AAAAGATGGACGACAAAGCTC 0.448 NA 14 33 0 0 0 0 NAGS 162417 broad.mit.edu 37 17 42083499 42083499 + Missense_Mutation SNP T T A TCGA-CQ-5330-01A-01D-1683-08 TCGA-CQ-5330-10A-01D-1683-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 4ce7e702-9b62-459e-b2b4-a26cabba3a93 690340f2-8307-43ea-ac77-21828b243e05 g.chr17:42083499T>A uc002ies.2 + 3 809 c.809T>A c.(808-810)GTG>GAG p.V270E PYY_uc002ieq.2_5'Flank|NAGS_uc010czn.2_Missense_Mutation_p.V270E|NAGS_uc002iet.2_5'UTR NM_153006 NP_694551 Q8N159 NAGS_HUMAN N-acetylglutamate synthase 270 arginine biosynthetic process|urea cycle mitochondrial matrix acetyl-CoA:L-glutamate N-acetyltransferase activity 0 Breast(137;0.00536)|Prostate(33;0.0724) BRCA - Breast invasive adenocarcinoma(366;0.113) L-Glutamic Acid(DB00142) CGCCGCTCCGTGCTTCTCGAC 0.667 NA 10 16 0 0 0 0 LRRC30 339291 broad.mit.edu 37 18 7231400 7231400 + Silent SNP C C T TCGA-CQ-5330-01A-01D-1683-08 TCGA-CQ-5330-10A-01D-1683-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 4ce7e702-9b62-459e-b2b4-a26cabba3a93 690340f2-8307-43ea-ac77-21828b243e05 g.chr18:7231400C>T uc010wzk.1 + 1 264 c.264C>T c.(262-264)CCC>CCT p.P88P NM_001105581 NP_001099051 A6NM36 LRC30_HUMAN leucine rich repeat containing 30 88 LRR 1. ovary(1)|liver(1) 2 TTCTCCCTCCCGAGGTGGGGA 0.587 NA 9 24 0 0 0 0 DSG1 1828 broad.mit.edu 37 18 28934345 28934345 + Missense_Mutation SNP C C T TCGA-CQ-5330-01A-01D-1683-08 TCGA-CQ-5330-10A-01D-1683-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 4ce7e702-9b62-459e-b2b4-a26cabba3a93 690340f2-8307-43ea-ac77-21828b243e05 g.chr18:28934345C>T uc002kwp.2 + 15 2398 c.2186C>T c.(2185-2187)CCT>CTT p.P729L DSG1_uc010xbp.1_Missense_Mutation_p.P88L NM_001942 NP_001933 Q02413 DSG1_HUMAN desmoglein 1 preproprotein 729 Cytoplasmic (Potential). calcium-dependent cell-cell adhesion|cell-cell junction assembly|cellular component disassembly involved in apoptosis|homophilic cell adhesion|protein stabilization cytosol|desmosome|integral to membrane|internal side of plasma membrane calcium ion binding|gamma-catenin binding|toxin binding skin(3)|ovary(2)|central_nervous_system(2) 7 OV - Ovarian serous cystadenocarcinoma(10;0.00559) GTAGGTTCCCCTGCTGGCTCT 0.453 NA 32 54 0 0 0 0 C18orf54 162681 broad.mit.edu 37 18 51892104 51892104 + Silent SNP C C T TCGA-CQ-5330-01A-01D-1683-08 TCGA-CQ-5330-10A-01D-1683-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 4ce7e702-9b62-459e-b2b4-a26cabba3a93 690340f2-8307-43ea-ac77-21828b243e05 g.chr18:51892104C>T uc002lfn.3 + 5 872 c.756C>T c.(754-756)CCC>CCT p.P252P C18orf54_uc002lfo.3_Silent_p.P413P NM_173529 NP_775800 Q8IYD9 CR054_HUMAN hypothetical protein LOC162681 precursor 252 extracellular region ovary(1)|skin(1) 2 Colorectal(16;0.0206)|READ - Rectum adenocarcinoma(59;0.186) CTCCTGTTCCCGTTAACTCTG 0.333 NA 39 120 0 0 0 0 TSHZ1 10194 broad.mit.edu 37 18 72999367 72999367 + Missense_Mutation SNP G G A TCGA-CQ-5330-01A-01D-1683-08 TCGA-CQ-5330-10A-01D-1683-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 4ce7e702-9b62-459e-b2b4-a26cabba3a93 690340f2-8307-43ea-ac77-21828b243e05 g.chr18:72999367G>A uc002lly.2 + 2 2433 c.1870G>A c.(1870-1872)GCT>ACT p.A624T NM_005786 NP_005777 Q6ZSZ6 TSH1_HUMAN teashirt family zinc finger 1 669 nucleus sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding 0 Esophageal squamous(42;0.129)|Prostate(75;0.142)|Melanoma(33;0.211) Colorectal(1;0.000501)|READ - Rectum adenocarcinoma(2;0.00226)|BRCA - Breast invasive adenocarcinoma(31;0.246) CCTGGCCAAGGCTGCGTCCCC 0.572 NA 14 31 0 0 0 0 MUC16 94025 broad.mit.edu 37 19 9010979 9010979 + Missense_Mutation SNP G G T TCGA-CQ-5330-01A-01D-1683-08 TCGA-CQ-5330-10A-01D-1683-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 4ce7e702-9b62-459e-b2b4-a26cabba3a93 690340f2-8307-43ea-ac77-21828b243e05 g.chr19:9010979G>T uc002mkp.2 - 37 39143 c.38939C>A c.(38938-38940)CCC>CAC p.P12980H MUC16_uc010xki.1_Intron NM_024690 NP_078966 Q8WXI7 MUC16_HUMAN mucin 16 Error:AA_residue_mismatch_between_GAF_and_UniProt_prot_seqs_after_alignment cell adhesion extracellular space|extrinsic to membrane|integral to membrane|plasma membrane protein binding lung(30)|ovary(15)|breast(8)|large_intestine(1)|skin(1)|prostate(1)|pancreas(1) 57 ACTGCTGGTGGGGGCCACAGA 0.517 NA 25 66 6.13e-19 7.26e-19 1 0 ILF3 3609 broad.mit.edu 37 19 10791116 10791116 + Silent SNP G G A rs150021624 byFrequency TCGA-CQ-5330-01A-01D-1683-08 TCGA-CQ-5330-10A-01D-1683-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 4ce7e702-9b62-459e-b2b4-a26cabba3a93 690340f2-8307-43ea-ac77-21828b243e05 g.chr19:10791116G>A uc002mpn.2 + 9 1271 c.954G>A c.(952-954)GCG>GCA p.A318A ILF3_uc002mpm.2_Silent_p.A318A|ILF3_uc002mpl.2_Silent_p.A318A|ILF3_uc002mpk.2_Silent_p.A318A|ILF3_uc010xli.1_Intron|ILF3_uc002mpo.2_Silent_p.A318A|ILF3_uc002mpp.2_Silent_p.A139A NM_012218 NP_036350 Q12906 ILF3_HUMAN interleukin enhancer binding factor 3 isoform a 318 DZF. M phase|negative regulation of transcription, DNA-dependent|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent mitochondrion|nucleolus|ribonucleoprotein complex DNA binding|double-stranded RNA binding|protein binding|protein binding ovary(3) 3 Epithelial(33;6.86e-06)|all cancers(31;1.65e-05) CACAGAGTGCGCAGGTATAGT 0.507 NA 5 33 0 0 0 0 ZNF208 7757 broad.mit.edu 37 19 22157207 22157207 + Missense_Mutation SNP A A G TCGA-CQ-5330-01A-01D-1683-08 TCGA-CQ-5330-10A-01D-1683-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 4ce7e702-9b62-459e-b2b4-a26cabba3a93 690340f2-8307-43ea-ac77-21828b243e05 g.chr19:22157207A>G uc002nqp.2 - 4 778 c.629T>C c.(628-630)TTT>TCT p.F210S ZNF208_uc002nqo.1_Intron|ZNF208_uc010ecw.1_5'Flank NM_007153 NP_009084 zinc finger protein 208 ovary(5)|skin(2) 7 all_lung(12;0.0961)|Lung NSC(12;0.103) GGACCAGTTAAAAGCTTTGCC 0.368 NA 18 49 0 0 0 0 GGN 199720 broad.mit.edu 37 19 38877088 38877088 + Missense_Mutation SNP C C T TCGA-CQ-5330-01A-01D-1683-08 TCGA-CQ-5330-10A-01D-1683-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 4ce7e702-9b62-459e-b2b4-a26cabba3a93 690340f2-8307-43ea-ac77-21828b243e05 g.chr19:38877088C>T uc002oij.1 - 3 949 c.814G>A c.(814-816)GGA>AGA p.G272R GGN_uc002oik.1_Intron|GGN_uc010efy.1_Missense_Mutation_p.G189R NM_152657 NP_689870 Q86UU5 GGN_HUMAN gametogenetin 272 Interaction with GGNBP1 (By similarity).|Pro-rich. cell differentiation|multicellular organismal development|spermatogenesis 0 all_cancers(60;3.4e-06) Lung(45;0.00172)|LUSC - Lung squamous cell carcinoma(53;0.00272) CCGCCGCCTCCGCCGCCCCCC 0.647 NA 8 41 0 0 0 0 PPP5C 5536 broad.mit.edu 37 19 46879819 46879819 + Silent SNP A A G TCGA-CQ-5330-01A-01D-1683-08 TCGA-CQ-5330-10A-01D-1683-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 4ce7e702-9b62-459e-b2b4-a26cabba3a93 690340f2-8307-43ea-ac77-21828b243e05 g.chr19:46879819A>G uc002pem.2 + 4 681 c.621A>G c.(619-621)AAA>AAG p.K207K PPP5C_uc010xya.1_Silent_p.K74K|PPP5C_uc002pen.2_Silent_p.K207K NM_006247 NP_006238 P53041 PPP5_HUMAN protein phosphatase 5, catalytic subunit 207 Catalytic. mitosis|positive regulation of I-kappaB kinase/NF-kappaB cascade|protein dephosphorylation|transcription, DNA-dependent Golgi apparatus|nucleus metal ion binding|protein binding|protein serine/threonine phosphatase activity|signal transducer activity lung(1)|pancreas(1) 2 Ovarian(192;0.0731)|all_neural(266;0.196) OV - Ovarian serous cystadenocarcinoma(262;0.000196)|all cancers(93;0.00192)|GBM - Glioblastoma multiforme(486;0.0499)|Epithelial(262;0.0504) TGCACCGGAAATGTGCCTACC 0.547 NA 10 25 0 0 0 0 ZNF616 90317 broad.mit.edu 37 19 52619805 52619805 + Silent SNP C C T TCGA-CQ-5330-01A-01D-1683-08 TCGA-CQ-5330-10A-01D-1683-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 4ce7e702-9b62-459e-b2b4-a26cabba3a93 690340f2-8307-43ea-ac77-21828b243e05 g.chr19:52619805C>T uc002pym.2 - 4 895 c.612G>A c.(610-612)CAG>CAA p.Q204Q ZNF616_uc002pyn.2_RNA NM_178523 NP_848618 Q08AN1 ZN616_HUMAN zinc finger protein 616 204 C2H2-type 1. regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding 0 GBM - Glioblastoma multiforme(134;0.00392)|OV - Ovarian serous cystadenocarcinoma(262;0.0189) TATGTATCCTCTGATGATTAA 0.393 NA 42 93 0 0 0 0 CKAP2L 150468 broad.mit.edu 37 2 113514030 113514030 + Silent SNP A A G TCGA-CQ-5330-01A-01D-1683-08 TCGA-CQ-5330-10A-01D-1683-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 4ce7e702-9b62-459e-b2b4-a26cabba3a93 690340f2-8307-43ea-ac77-21828b243e05 g.chr2:113514030A>G uc002tie.2 - 4 997 c.918T>C c.(916-918)AAT>AAC p.N306N CKAP2L_uc002tif.2_Intron|CKAP2L_uc010yxp.1_Silent_p.N141N|CKAP2L_uc010yxq.1_Silent_p.N141N NM_152515 NP_689728 Q8IYA6 CKP2L_HUMAN cytoskeleton associated protein 2-like 306 centrosome 0 ATTGACTCCTATTAACCTTTA 0.408 NA 22 72 0 0 0 0 OBSL1 23363 broad.mit.edu 37 2 220422717 220422717 + Nonsense_Mutation SNP C C T TCGA-CQ-5330-01A-01D-1683-08 TCGA-CQ-5330-10A-01D-1683-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 4ce7e702-9b62-459e-b2b4-a26cabba3a93 690340f2-8307-43ea-ac77-21828b243e05 g.chr2:220422717C>T uc010fwk.2 - 11 3675 c.3618G>A c.(3616-3618)TGG>TGA p.W1206* OBSL1_uc002vmh.1_Nonsense_Mutation_p.W197*|OBSL1_uc010zli.1_Nonsense_Mutation_p.W105*|OBSL1_uc010fwl.1_Nonsense_Mutation_p.W681* NM_015311 NP_056126 O75147 OBSL1_HUMAN obscurin-like 1 1206 Ig-like 10. cardiac myofibril assembly intercalated disc|M band|perinuclear region of cytoplasm|Z disc cytoskeletal adaptor activity 0 Renal(207;0.0376) Epithelial(149;2.02e-07)|all cancers(144;1.68e-05)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00834) CATTGTGGCTCCAGACCACGG 0.687 NA 4 12 0 0 0 0 WDFY1 57590 broad.mit.edu 37 2 224749380 224749380 + Silent SNP C C G rs140777534 TCGA-CQ-5330-01A-01D-1683-08 TCGA-CQ-5330-10A-01D-1683-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 4ce7e702-9b62-459e-b2b4-a26cabba3a93 690340f2-8307-43ea-ac77-21828b243e05 g.chr2:224749380C>G uc002vnq.2 - 9 969 c.918G>C c.(916-918)ACG>ACC p.T306T NM_020830 NP_065881 Q8IWB7 WDFY1_HUMAN WD repeat and FYVE domain containing 1 306 FYVE-type. cytosol|early endosome|nucleus 1-phosphatidylinositol binding|zinc ion binding lung(1) 1 all_lung(227;0.00682)|Lung NSC(271;0.00859)|Renal(207;0.0112)|all_hematologic(139;0.189) Epithelial(121;5.34e-10)|all cancers(144;1.67e-07)|Lung(261;0.00807)|LUSC - Lung squamous cell carcinoma(224;0.00843) TTAGCCCCAGCGTCTTGGTGT 0.453 NA 57 208 0 0 0 0 SP110 3431 broad.mit.edu 37 2 231067413 231067413 + Silent SNP C C T TCGA-CQ-5330-01A-01D-1683-08 TCGA-CQ-5330-10A-01D-1683-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 4ce7e702-9b62-459e-b2b4-a26cabba3a93 690340f2-8307-43ea-ac77-21828b243e05 g.chr2:231067413C>T uc002vqh.3 - 9 1170 c.930G>A c.(928-930)AAG>AAA p.K310K SP110_uc002vqg.3_Silent_p.K310K|SP110_uc002vqi.3_Silent_p.K310K|SP110_uc010fxk.2_Silent_p.K308K|SP110_uc010fxj.2_Intron NM_004509 NP_004500 Q9HB58 SP110_HUMAN SP110 nuclear body protein isoform a 310 interspecies interaction between organisms|regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|signal transducer activity|zinc ion binding ovary(2)|breast(2) 4 Renal(207;0.0112)|all_lung(227;0.0223)|Lung NSC(271;0.0983)|all_hematologic(139;0.104)|Acute lymphoblastic leukemia(138;0.169) Epithelial(121;2.61e-12)|all cancers(144;6.39e-10)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(119;0.0097) TTTTGAGCTTCTTTTGGATTC 0.458 NA 27 84 0 0 0 0 ATRN 8455 broad.mit.edu 37 20 3543984 3543984 + Missense_Mutation SNP C C T TCGA-CQ-5330-01A-01D-1683-08 TCGA-CQ-5330-10A-01D-1683-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 4ce7e702-9b62-459e-b2b4-a26cabba3a93 690340f2-8307-43ea-ac77-21828b243e05 g.chr20:3543984C>T uc002wim.2 + 10 1850 c.1760C>T c.(1759-1761)TCT>TTT p.S587F ATRN_uc002wil.2_Missense_Mutation_p.S587F NM_139321 NP_647537 O75882 ATRN_HUMAN attractin isoform 1 587 Extracellular (Potential).|Kelch 5. inflammatory response extracellular space|integral to plasma membrane receptor activity|sugar binding ovary(1)|breast(1) 2 AAATGCTTCTCTTCAGATTTC 0.428 NA 9 163 0 0 0 0 ZNF335 63925 broad.mit.edu 37 20 44581029 44581029 + Silent SNP G G A TCGA-CQ-5330-01A-01D-1683-08 TCGA-CQ-5330-10A-01D-1683-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 4ce7e702-9b62-459e-b2b4-a26cabba3a93 690340f2-8307-43ea-ac77-21828b243e05 g.chr20:44581029G>A uc002xqw.2 - 20 3069 c.2946C>T c.(2944-2946)TGC>TGT p.C982C ZNF335_uc002xqv.2_Silent_p.C94C|ZNF335_uc010zxk.1_Silent_p.C827C NM_022095 NP_071378 Q9H4Z2 ZN335_HUMAN zinc finger protein 335 982 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding skin(3)|ovary(1) 4 Myeloproliferative disorder(115;0.0122) AGTCCCCTACGCAGTGGGTCT 0.662 NA 20 39 0 0 0 0 TSSK2 23617 broad.mit.edu 37 22 19119046 19119046 + Missense_Mutation SNP G G A TCGA-CQ-5330-01A-01D-1683-08 TCGA-CQ-5330-10A-01D-1683-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 4ce7e702-9b62-459e-b2b4-a26cabba3a93 690340f2-8307-43ea-ac77-21828b243e05 g.chr22:19119046G>A uc002zow.2 + 1 726 c.134G>A c.(133-135)CGC>CAC p.R45H DGCR14_uc002zot.2_3'UTR|DGCR14_uc002zou.2_3'UTR|DGCR14_uc002zov.2_RNA NM_053006 NP_443732 Q96PF2 TSSK2_HUMAN testis-specific serine kinase 2 45 Protein kinase. cell differentiation|multicellular organismal development|spermatogenesis cytoplasm ATP binding|magnesium ion binding|protein binding|protein serine/threonine kinase activity stomach(1) 1 Colorectal(54;0.0993) ATCATCGACCGCAAGAAAACA 0.488 NA 3 31 0 0 0 0 FGD5 152273 broad.mit.edu 37 3 14862067 14862067 + Missense_Mutation SNP G G A TCGA-CQ-5330-01A-01D-1683-08 TCGA-CQ-5330-10A-01D-1683-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 4ce7e702-9b62-459e-b2b4-a26cabba3a93 690340f2-8307-43ea-ac77-21828b243e05 g.chr3:14862067G>A uc003bzc.2 + 1 1599 c.1489G>A c.(1489-1491)GTC>ATC p.V497I FGD5_uc011avk.1_Missense_Mutation_p.V497I NM_152536 NP_689749 Q6ZNL6 FGD5_HUMAN FYVE, RhoGEF and PH domain containing 5 497 actin cytoskeleton organization|filopodium assembly|regulation of Cdc42 GTPase activity|regulation of cell shape cytoskeleton|Golgi apparatus|lamellipodium|ruffle metal ion binding|Rho guanyl-nucleotide exchange factor activity|small GTPase binding ovary(3)|kidney(1)|pancreas(1) 5 CCCAGAAACCGTCCCTGAAGA 0.642 NA 5 36 0 0 0 0 SENP7 57337 broad.mit.edu 37 3 101066766 101066766 + Missense_Mutation SNP T T C TCGA-CQ-5330-01A-01D-1683-08 TCGA-CQ-5330-10A-01D-1683-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 4ce7e702-9b62-459e-b2b4-a26cabba3a93 690340f2-8307-43ea-ac77-21828b243e05 g.chr3:101066766T>C uc003dut.2 - 13 1898 c.1787A>G c.(1786-1788)TAT>TGT p.Y596C SENP7_uc003duu.2_Missense_Mutation_p.Y531C|SENP7_uc003duv.2_Missense_Mutation_p.Y563C|SENP7_uc003duw.2_Missense_Mutation_p.Y530C|SENP7_uc003dux.2_Missense_Mutation_p.Y432C NM_020654 NP_065705 Q9BQF6 SENP7_HUMAN sentrin/SUMO-specific protease 7 isoform 1 596 proteolysis nucleus cysteine-type peptidase activity ovary(3)|lung(2) 5 CTCTTGAAGATAATCTGAAGA 0.338 NA 19 71 0 0 0 0 EPHB1 2047 broad.mit.edu 37 3 134880873 134880873 + Missense_Mutation SNP T T G TCGA-CQ-5330-01A-01D-1683-08 TCGA-CQ-5330-10A-01D-1683-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 4ce7e702-9b62-459e-b2b4-a26cabba3a93 690340f2-8307-43ea-ac77-21828b243e05 g.chr3:134880873T>G uc003eqt.2 + 7 1656 c.1436T>G c.(1435-1437)TTC>TGC p.F479C EPHB1_uc003equ.2_Missense_Mutation_p.F40C NM_004441 NP_004432 P54762 EPHB1_HUMAN ephrin receptor EphB1 precursor 479 Fibronectin type-III 2.|Extracellular (Potential). integral to plasma membrane ATP binding|ephrin receptor activity|protein binding lung(11)|ovary(6)|stomach(4)|breast(3)|central_nervous_system(2)|skin(2)|large_intestine(1)|pancreas(1) 30 CACAATGAGTTCAACTCCTCC 0.547 NA 3 73 0 0 0 0 ZIC4 84107 broad.mit.edu 37 3 147113851 147113851 + Missense_Mutation SNP G G A TCGA-CQ-5330-01A-01D-1683-08 TCGA-CQ-5330-10A-01D-1683-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 4ce7e702-9b62-459e-b2b4-a26cabba3a93 690340f2-8307-43ea-ac77-21828b243e05 g.chr3:147113851G>A uc003ewd.1 - 3 749 c.476C>T c.(475-477)ACC>ATC p.T159I ZIC4_uc003ewc.1_Missense_Mutation_p.T89I|ZIC4_uc011bno.1_Missense_Mutation_p.T209I NM_032153 NP_115529 Q8N9L1 ZIC4_HUMAN zinc finger protein of the cerebellum 4 159 C2H2-type 1; atypical. nucleus DNA binding|zinc ion binding upper_aerodigestive_tract(1)|central_nervous_system(1) 2 GTGCTCCACGGTGACGTGCGT 0.612 NA 4 128 0 0 0 0 NCBP2 22916 broad.mit.edu 37 3 196669371 196669371 + Missense_Mutation SNP A A T TCGA-CQ-5330-01A-01D-1683-08 TCGA-CQ-5330-10A-01D-1683-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 4ce7e702-9b62-459e-b2b4-a26cabba3a93 690340f2-8307-43ea-ac77-21828b243e05 g.chr3:196669371A>T uc003fxd.1 - 1 94 c.4T>A c.(4-6)TCG>ACG p.S2T NCBP2_uc003fxb.1_5'Flank|NCBP2_uc011btz.1_5'Flank|NCBP2_uc003fxc.1_RNA|NCBP2_uc003fxe.1_Missense_Mutation_p.S2T|NCBP2_uc003fxf.2_Missense_Mutation_p.S2T|LOC152217_uc003fxg.3_5'Flank NM_007362 NP_031388 P52298 NCBP2_HUMAN nuclear cap binding protein subunit 2, 20kDa 2 gene silencing by RNA|histone mRNA metabolic process|mRNA 3'-end processing|mRNA capping|mRNA export from nucleus|ncRNA metabolic process|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay|positive regulation of RNA export from nucleus|positive regulation of viral transcription|regulation of translational initiation|snRNA export from nucleus|spliceosomal snRNP assembly|termination of RNA polymerase II transcription|transcription elongation from RNA polymerase II promoter|viral reproduction cytosol|mRNA cap binding complex|nucleoplasm nucleotide binding|protein binding|RNA 7-methylguanosine cap binding 0 all_cancers(143;1.8e-08)|Ovarian(172;0.0634)|Breast(254;0.135) Epithelial(36;3.42e-24)|all cancers(36;2.27e-22)|OV - Ovarian serous cystadenocarcinoma(49;4.13e-19)|LUSC - Lung squamous cell carcinoma(58;1.51e-06)|Lung(62;1.95e-06) GBM - Glioblastoma multiforme(46;0.00551) AGGCCACCCGACATAGTGCAG 0.682 NA OREG0016012 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 3 14 0 0 0 0 NCAPG 64151 broad.mit.edu 37 4 17827167 17827167 + Missense_Mutation SNP G G A TCGA-CQ-5330-01A-01D-1683-08 TCGA-CQ-5330-10A-01D-1683-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 4ce7e702-9b62-459e-b2b4-a26cabba3a93 690340f2-8307-43ea-ac77-21828b243e05 g.chr4:17827167G>A uc003gpp.2 + 11 1812 c.1636G>A c.(1636-1638)GAA>AAA p.E546K NCAPG_uc011bxj.1_Missense_Mutation_p.E55K NM_022346 NP_071741 Q9BPX3 CND3_HUMAN chromosome condensation protein G 546 cell division|mitotic chromosome condensation condensin complex|cytoplasm|nucleus protein binding large_intestine(1) 1 STAD - Stomach adenocarcinoma(129;0.18) TGAAATTAAAGAAGTCCACAT 0.308 NA 6 48 0 0 0 0 RBM47 54502 broad.mit.edu 37 4 40440251 40440251 + Silent SNP C C T TCGA-CQ-5330-01A-01D-1683-08 TCGA-CQ-5330-10A-01D-1683-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 4ce7e702-9b62-459e-b2b4-a26cabba3a93 690340f2-8307-43ea-ac77-21828b243e05 g.chr4:40440251C>T uc003gvc.2 - 4 1370 c.660G>A c.(658-660)CAG>CAA p.Q220Q RBM47_uc003gvd.2_Silent_p.Q220Q|RBM47_uc003gve.2_RNA|RBM47_uc011bys.1_Silent_p.Q182Q|RBM47_uc003gvg.1_Silent_p.Q220Q NM_001098634 NP_001092104 A0AV96 RBM47_HUMAN RNA binding motif protein 47 isoform a 220 RRM 2. nucleus nucleotide binding|RNA binding breast(3) 3 GGCCCCACAGCTGGATGCGGC 0.647 NA 26 44 0 0 0 0 TLL1 7092 broad.mit.edu 37 4 167020437 167020437 + Missense_Mutation SNP G G A TCGA-CQ-5330-01A-01D-1683-08 TCGA-CQ-5330-10A-01D-1683-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 4ce7e702-9b62-459e-b2b4-a26cabba3a93 690340f2-8307-43ea-ac77-21828b243e05 g.chr4:167020437G>A uc003irh.1 + 20 3312 c.2665G>A c.(2665-2667)GGA>AGA p.G889R TLL1_uc011cjn.1_Missense_Mutation_p.G912R|TLL1_uc011cjo.1_Missense_Mutation_p.G713R NM_012464 NP_036596 O43897 TLL1_HUMAN tolloid-like 1 precursor 889 CUB 5. 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) AGAGTGTGGCGGACGATTGAA 0.418 NA 12 48 0 0 0 0 DNAH5 1767 broad.mit.edu 37 5 13701428 13701428 + Missense_Mutation SNP A A T TCGA-CQ-5330-01A-01D-1683-08 TCGA-CQ-5330-10A-01D-1683-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 4ce7e702-9b62-459e-b2b4-a26cabba3a93 690340f2-8307-43ea-ac77-21828b243e05 g.chr5:13701428A>T uc003jfd.2 - 77 13498 c.13456T>A c.(13456-13458)TTT>ATT p.F4486I DNAH5_uc003jfc.2_Missense_Mutation_p.F654I NM_001369 NP_001360 Q8TE73 DYH5_HUMAN dynein, axonemal, heavy chain 5 4486 microtubule-based movement cilium axoneme|cytoplasm|microtubule ATP binding|ATPase activity|microtubule motor activity ovary(14)|skin(13)|upper_aerodigestive_tract(1)|central_nervous_system(1)|breast(1)|pancreas(1) 31 Lung NSC(4;0.00476) TGGGGGTTAAAAAAACCCGTC 0.423 NA Kartagener_syndrome 63 84 0 0 0 0 LIFR 3977 broad.mit.edu 37 5 38506632 38506632 + Missense_Mutation SNP C C T TCGA-CQ-5330-01A-01D-1683-08 TCGA-CQ-5330-10A-01D-1683-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 4ce7e702-9b62-459e-b2b4-a26cabba3a93 690340f2-8307-43ea-ac77-21828b243e05 g.chr5:38506632C>T uc010ive.1 - 8 1426 c.1094G>A c.(1093-1095)CGT>CAT p.R365H LIFR_uc003jli.2_Missense_Mutation_p.R365H NM_001127671 NP_001121143 P42702 LIFR_HUMAN leukemia inhibitory factor receptor precursor 365 Fibronectin type-III 2.|Extracellular (Potential). positive regulation of cell proliferation extracellular region|integral to plasma membrane ciliary neurotrophic factor receptor binding|growth factor binding|leukemia inhibitory factor receptor activity ovary(3)|large_intestine(1) 4 all_lung(31;0.00021) GCTTGTAGCACGTGGGCCCAC 0.423 NA T PLAG1 salivary adenoma 31 51 0 0 0 0 MAP1B 4131 broad.mit.edu 37 5 71492289 71492289 + Missense_Mutation SNP C C T rs145156470 byFrequency TCGA-CQ-5330-01A-01D-1683-08 TCGA-CQ-5330-10A-01D-1683-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 4ce7e702-9b62-459e-b2b4-a26cabba3a93 690340f2-8307-43ea-ac77-21828b243e05 g.chr5:71492289C>T uc003kbw.3 + 5 3348 c.3107C>T c.(3106-3108)CCG>CTG p.P1036L MAP1B_uc010iyw.1_Missense_Mutation_p.P1053L|MAP1B_uc010iyx.1_Missense_Mutation_p.P910L|MAP1B_uc010iyy.1_Missense_Mutation_p.P910L NM_005909 NP_005900 P46821 MAP1B_HUMAN microtubule-associated protein 1B 1036 microtubule|microtubule associated complex structural molecule activity large_intestine(2)|ovary(1)|central_nervous_system(1)|pancreas(1) 5 Lung NSC(167;0.00202)|Ovarian(174;0.0175)|Prostate(461;0.142)|Breast(144;0.198) OV - Ovarian serous cystadenocarcinoma(47;7.99e-54) GAATATGAGCCGGAAAAAATG 0.522 NA 21 49 0 0 0 0 CHD1 1105 broad.mit.edu 37 5 98233025 98233025 + Splice_Site SNP C C T TCGA-CQ-5330-01A-01D-1683-08 TCGA-CQ-5330-10A-01D-1683-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 4ce7e702-9b62-459e-b2b4-a26cabba3a93 690340f2-8307-43ea-ac77-21828b243e05 g.chr5:98233025C>T uc003knf.2 - 10 1514 c.1366_splice c.e10-1 p.V456_splice NM_001270 NP_001261 O14646 CHD1_HUMAN chromodomain helicase DNA binding protein 1 regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent cytoplasm|nucleus ATP binding|ATP-dependent DNA helicase activity|DNA binding|methylated histone residue binding lung(2)|ovary(1)|breast(1)|pancreas(1) 5 all_cancers(142;5.36e-08)|all_epithelial(76;6.97e-11)|Lung NSC(167;0.000693)|Prostate(80;0.000986)|all_lung(232;0.00119)|Ovarian(225;0.024)|Colorectal(57;0.117) COAD - Colon adenocarcinoma(37;0.0717) Epirubicin(DB00445) GTTTTAATACCTTTAGTAGAA 0.308 NA 17 54 0 0 0 0 PCDHA13 56136 broad.mit.edu 37 5 140264049 140264049 + Silent SNP C C T TCGA-CQ-5330-01A-01D-1683-08 TCGA-CQ-5330-10A-01D-1683-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 4ce7e702-9b62-459e-b2b4-a26cabba3a93 690340f2-8307-43ea-ac77-21828b243e05 g.chr5:140264049C>T uc003lif.2 + 1 2196 c.2196C>T c.(2194-2196)TGC>TGT p.C732C 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_uc003lhs.2_Intron|PCDHA9_uc003lhu.2_Intron|PCDHA10_uc003lhw.2_Intron|PCDHA10_uc003lhx.2_Intron|PCDHA11_uc003lia.2_Intron|PCDHA12_uc003lic.2_Intron|PCDHA13_uc003lie.1_Silent_p.C732C|PCDHA13_uc003lid.2_Silent_p.C732C NM_018904 NP_061727 Q9Y5I0 PCDAD_HUMAN protocadherin alpha 13 isoform 1 precursor 732 Cytoplasmic (Potential). homophilic cell adhesion integral to membrane|plasma membrane calcium ion binding ovary(3)|skin(2)|central_nervous_system(1) 6 KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191) AGGGCGCGTGCGCGCCGGGCA 0.672 NA 28 64 0 0 0 0 PCDHB7 56129 broad.mit.edu 37 5 140553676 140553676 + Silent SNP C C T TCGA-CQ-5330-01A-01D-1683-08 TCGA-CQ-5330-10A-01D-1683-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 4ce7e702-9b62-459e-b2b4-a26cabba3a93 690340f2-8307-43ea-ac77-21828b243e05 g.chr5:140553676C>T uc003lit.2 + 1 1434 c.1260C>T c.(1258-1260)ACC>ACT p.T420T NM_018940 NP_061763 Q9Y5E2 PCDB7_HUMAN protocadherin beta 7 precursor 420 Extracellular (Potential).|Cadherin 4. calcium-dependent cell-cell adhesion|homophilic cell adhesion integral to membrane|plasma membrane calcium ion binding ovary(4)|central_nervous_system(1)|skin(1) 6 KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339) ACAACATCACCATCACCGTCA 0.512 NA 4 63 0 0 0 0 DUSP22 56940 broad.mit.edu 37 6 348266 348266 + Missense_Mutation SNP G G T rs147464089 byFrequency TCGA-CQ-5330-01A-01D-1683-08 TCGA-CQ-5330-10A-01D-1683-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 4ce7e702-9b62-459e-b2b4-a26cabba3a93 690340f2-8307-43ea-ac77-21828b243e05 g.chr6:348266G>T uc003msx.2 + 6 866 c.427G>T c.(427-429)GTC>TTC p.V143F DUSP22_uc011dhn.1_Missense_Mutation_p.V143F|DUSP22_uc003msy.1_Missense_Mutation_p.V100F NM_020185 NP_064570 Q9NRW4 DUS22_HUMAN dual specificity phosphatase 22 143 apoptosis|cell proliferation|inactivation of MAPK activity|multicellular organismal development|positive regulation of JNK cascade|regulation of cell proliferation|transforming growth factor beta receptor signaling pathway cytoplasm|nucleus protein tyrosine phosphatase activity|protein tyrosine/serine/threonine phosphatase activity ovary(1)|kidney(1)|central_nervous_system(1) 3 all_hematologic(77;0.228) Breast(5;0.0249)|all_hematologic(90;0.0489) OV - Ovarian serous cystadenocarcinoma(45;0.0277)|BRCA - Breast invasive adenocarcinoma(62;0.0669) GAAGCATGAGGTCCATCAGGT 0.582 NA 4 46 2.56e-06 2.91e-06 1 0 SLC26A8 116369 broad.mit.edu 37 6 35919019 35919019 + Missense_Mutation SNP C C A TCGA-CQ-5330-01A-01D-1683-08 TCGA-CQ-5330-10A-01D-1683-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 4ce7e702-9b62-459e-b2b4-a26cabba3a93 690340f2-8307-43ea-ac77-21828b243e05 g.chr6:35919019C>A uc003olm.2 - 19 2504 c.2393G>T c.(2392-2394)AGG>ATG p.R798M SLC26A8_uc010jwa.2_RNA|SLC26A8_uc003olk.2_Missense_Mutation_p.R380M|SLC26A8_uc003oln.2_Missense_Mutation_p.R798M|SLC26A8_uc003oll.2_Missense_Mutation_p.R693M NM_052961 NP_443193 Q96RN1 S26A8_HUMAN solute carrier family 26, member 8 isoform a 798 Interaction with RACGAP1.|Cytoplasmic (Potential). cell differentiation|meiosis|multicellular organismal development|spermatogenesis integral to membrane|plasma membrane anion:anion antiporter activity|chloride channel activity|oxalate transmembrane transporter activity|protein binding|sulfate transmembrane transporter activity ovary(2) 2 TATGACCTTCCTTGACAAGGC 0.493 NA 15 43 4.15e-12 4.86e-12 1 0 RSPO3 84870 broad.mit.edu 37 6 127476478 127476478 + Nonsense_Mutation SNP C C T TCGA-CQ-5330-01A-01D-1683-08 TCGA-CQ-5330-10A-01D-1683-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 4ce7e702-9b62-459e-b2b4-a26cabba3a93 690340f2-8307-43ea-ac77-21828b243e05 g.chr6:127476478C>T uc003qar.2 + 4 819 c.529C>T c.(529-531)CGA>TGA p.R177* RSPO3_uc003qas.1_Nonsense_Mutation_p.R177* NM_032784 NP_116173 Q9BXY4 RSPO3_HUMAN R-spondin 3 precursor 177 TSP type-1. extracellular region heparin binding 0 GBM - Glioblastoma multiforme(226;0.0555) AACACGGGTCCGAGAAATAAT 0.463 NA 28 58 0 0 0 0 ACTB 60 broad.mit.edu 37 7 5567491 5567491 + Missense_Mutation SNP A A G TCGA-CQ-5330-01A-01D-1683-08 TCGA-CQ-5330-10A-01D-1683-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 4ce7e702-9b62-459e-b2b4-a26cabba3a93 690340f2-8307-43ea-ac77-21828b243e05 g.chr7:5567491A>G uc003sos.3 - 5 1052 c.1016T>C c.(1015-1017)GTG>GCG p.V339A ACTB_uc003sor.3_Missense_Mutation_p.V217A|ACTB_uc003sot.3_Missense_Mutation_p.V339A|ACTB_uc003soq.3_Missense_Mutation_p.V217A|ACTB_uc010ksy.2_Missense_Mutation_p.V217A NM_001101 NP_001092 P60709 ACTB_HUMAN beta actin 339 'de novo' posttranslational protein folding|adherens junction organization|axon guidance|blood coagulation|cell junction assembly|cellular component movement cytoskeleton|cytosol|MLL5-L complex|NuA4 histone acetyltransferase complex|ribonucleoprotein complex ATP binding|kinesin binding|nitric-oxide synthase binding|structural constituent of cytoskeleton 0 Ovarian(82;0.0606) UCEC - Uterine corpus endometrioid carcinoma (126;0.175)|OV - Ovarian serous cystadenocarcinoma(56;4.24e-37) GCCGATCCACACGGAGTACTT 0.622 NA 9 36 0 0 0 0 SAMD9L 219285 broad.mit.edu 37 7 92762359 92762359 + Missense_Mutation SNP C C T TCGA-CQ-5330-01A-01D-1683-08 TCGA-CQ-5330-10A-01D-1683-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 4ce7e702-9b62-459e-b2b4-a26cabba3a93 690340f2-8307-43ea-ac77-21828b243e05 g.chr7:92762359C>T uc003umh.1 - 5 4142 c.2926G>A c.(2926-2928)GTT>ATT p.V976I SAMD9L_uc003umj.1_Missense_Mutation_p.V976I|SAMD9L_uc003umi.1_Missense_Mutation_p.V976I|SAMD9L_uc010lfb.1_Missense_Mutation_p.V976I|SAMD9L_uc003umk.1_Missense_Mutation_p.V976I|SAMD9L_uc010lfc.1_Missense_Mutation_p.V976I|SAMD9L_uc010lfd.1_Missense_Mutation_p.V976I|SAMD9L_uc011khx.1_Intron NM_152703 NP_689916 Q8IVG5 SAM9L_HUMAN sterile alpha motif domain containing 9-like 976 ovary(4) 4 all_cancers(62;4.15e-11)|all_epithelial(64;2.29e-10)|Breast(17;0.000675)|Lung NSC(181;0.0755)|all_lung(186;0.0989) STAD - Stomach adenocarcinoma(171;0.000302) TATTCTGCAACTTCTGTTTTT 0.383 NA 18 47 0 0 0 0 TUSC3 7991 broad.mit.edu 37 8 15601052 15601052 + Missense_Mutation SNP G G A TCGA-CQ-5330-01A-01D-1683-08 TCGA-CQ-5330-10A-01D-1683-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 4ce7e702-9b62-459e-b2b4-a26cabba3a93 690340f2-8307-43ea-ac77-21828b243e05 g.chr8:15601052G>A uc003wwt.2 + 8 1078 c.868G>A c.(868-870)GCT>ACT p.A290T TUSC3_uc003wwu.2_Missense_Mutation_p.A290T|TUSC3_uc003wwv.2_Missense_Mutation_p.A290T|TUSC3_uc003www.2_Missense_Mutation_p.A290T|TUSC3_uc003wwx.2_RNA|TUSC3_uc003wwy.2_Silent_p.P268P NM_006765 NP_006756 Q13454 TUSC3_HUMAN tumor suppressor candidate 3 isoform a 290 Helical; (Potential). cell redox homeostasis|post-translational protein modification|protein N-linked glycosylation via asparagine integral to membrane|oligosaccharyltransferase complex ovary(2)|central_nervous_system(1) 3 Colorectal(111;0.113) TGCAGATGCCGCTATCACCAT 0.393 NA 45 46 0 0 0 0 RP1 6101 broad.mit.edu 37 8 55539978 55539978 + Missense_Mutation SNP T T C TCGA-CQ-5330-01A-01D-1683-08 TCGA-CQ-5330-10A-01D-1683-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 4ce7e702-9b62-459e-b2b4-a26cabba3a93 690340f2-8307-43ea-ac77-21828b243e05 g.chr8:55539978T>C uc003xsd.1 + 4 3684 c.3536T>C c.(3535-3537)TTG>TCG p.L1179S RP1_uc011ldy.1_Intron NM_006269 NP_006260 P56715 RP1_HUMAN retinitis pigmentosa RP1 protein 1179 axoneme assembly|intracellular signal transduction|photoreceptor cell maintenance|photoreceptor cell outer segment organization|phototransduction, visible light|retinal cone cell development|retinal rod cell development cilium axoneme|cytoplasm|microtubule|microtubule associated complex|photoreceptor connecting cilium|photoreceptor inner segment|photoreceptor outer segment microtubule binding skin(7)|ovary(4)|pancreas(1) 12 all_lung(136;0.0831)|Lung NSC(129;0.109)|all_epithelial(80;0.123) OV - Ovarian serous cystadenocarcinoma(7;4.4e-07)|Epithelial(17;3.37e-05)|all cancers(17;0.000285) GCTGATGACTTGAAAGCTGCT 0.408 NA 3 176 0 0 0 0 ZFHX4 79776 broad.mit.edu 37 8 77775641 77775641 + Missense_Mutation SNP A A G TCGA-CQ-5330-01A-01D-1683-08 TCGA-CQ-5330-10A-01D-1683-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 4ce7e702-9b62-459e-b2b4-a26cabba3a93 690340f2-8307-43ea-ac77-21828b243e05 g.chr8:77775641A>G uc003yav.2 + 11 9943 c.9556A>G c.(9556-9558)AAA>GAA p.K3186E NM_024721 NP_078997 Q86UP3 ZFHX4_HUMAN zinc finger homeodomain 4 3182 nucleus sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding ovary(8)|large_intestine(4)|breast(2)|lung(1) 15 BRCA - Breast invasive adenocarcinoma(89;0.0895) AGTGTTGGGCAAAGTTGTAGG 0.438 NA HNSCC(33;0.089) 13 144 0 0 0 0 RALYL 138046 broad.mit.edu 37 8 85799858 85799858 + Silent SNP G G A TCGA-CQ-5330-01A-01D-1683-08 TCGA-CQ-5330-10A-01D-1683-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 4ce7e702-9b62-459e-b2b4-a26cabba3a93 690340f2-8307-43ea-ac77-21828b243e05 g.chr8:85799858G>A uc003ycq.3 + 9 1121 c.705G>A c.(703-705)TTG>TTA p.L235L RALYL_uc003ycr.3_Silent_p.L235L|RALYL_uc003ycs.3_Silent_p.L235L|RALYL_uc010lzy.2_Silent_p.L224L|RALYL_uc003yct.3_Silent_p.L248L|RALYL_uc003ycu.3_Silent_p.L162L|RALYL_uc003ycv.3_Intron NM_001100392 NP_001093862 Q86SE5 RALYL_HUMAN RALY RNA binding protein-like isoform 2 235 Potential. identical protein binding|nucleotide binding|RNA binding ovary(1) 1 AGAAGCAATTGGAAGAGAGTC 0.488 NA 10 108 0 0 0 0 CYP11B1 1584 broad.mit.edu 37 8 143957228 143957228 + Missense_Mutation SNP G G A TCGA-CQ-5330-01A-01D-1683-08 TCGA-CQ-5330-10A-01D-1683-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 4ce7e702-9b62-459e-b2b4-a26cabba3a93 690340f2-8307-43ea-ac77-21828b243e05 g.chr8:143957228G>A uc003yxi.2 - 6 1028 c.1021C>T c.(1021-1023)CGC>TGC p.R341C CYP11B1_uc010mex.2_Missense_Mutation_p.R17C|CYP11B1_uc003yxh.2_Missense_Mutation_p.R57C|CYP11B1_uc003yxj.2_Missense_Mutation_p.R341C|CYP11B1_uc010mey.2_Missense_Mutation_p.R412C NM_000497 NP_000488 P15538 C11B1_HUMAN cytochrome P450, family 11, subfamily B, 341 aldosterone biosynthetic process|cellular response to hormone stimulus|cellular response to potassium ion|cortisol biosynthetic process|glucose homeostasis|immune response|regulation of blood pressure|response to stress|xenobiotic metabolic process mitochondrial inner membrane electron carrier activity|steroid 11-beta-monooxygenase activity ovary(3) 3 all_cancers(97;4.74e-11)|all_epithelial(106;2.06e-08)|Lung NSC(106;0.000228)|all_lung(105;0.000633)|Medulloblastoma(13;0.00276)|all_neural(13;0.00559)|Ovarian(258;0.0254)|Acute lymphoblastic leukemia(118;0.155) Mitotane(DB00648) CTCTCCTGGCGCAGGGCCTGC 0.642 NA Familial_Hyperaldosteronism_type_I 93 81 0 0 0 0 NAPRT1 93100 broad.mit.edu 37 8 144657851 144657851 + Missense_Mutation SNP C C T TCGA-CQ-5330-01A-01D-1683-08 TCGA-CQ-5330-10A-01D-1683-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 4ce7e702-9b62-459e-b2b4-a26cabba3a93 690340f2-8307-43ea-ac77-21828b243e05 g.chr8:144657851C>T uc003yym.3 - 9 1154 c.1129G>A c.(1129-1131)GGC>AGC p.G377S C8orf73_uc010mff.2_5'Flank|C8orf73_uc010mfg.1_5'Flank|NAPRT1_uc003yyn.3_Missense_Mutation_p.G377S|NAPRT1_uc011lkh.1_Missense_Mutation_p.G377S|NAPRT1_uc003yyo.3_Missense_Mutation_p.G377S NM_145201 NP_660202 Q6XQN6 PNCB_HUMAN nicotinate phosphoribosyltransferase domain 377 nicotinamide metabolic process|nicotinate nucleotide salvage|response to oxidative stress|water-soluble vitamin metabolic process cytosol|Golgi apparatus|nucleus nicotinate phosphoribosyltransferase activity|nicotinate-nucleotide diphosphorylase (carboxylating) activity ovary(1) 1 all_cancers(97;6.49e-11)|all_epithelial(106;4.73e-09)|Lung NSC(106;0.000202)|all_lung(105;0.000548)|Ovarian(258;0.014)|Acute lymphoblastic leukemia(118;0.155) Colorectal(110;0.134)|BRCA - Breast invasive adenocarcinoma(115;0.146) GTGCCAATGCCAATGACATTC 0.667 NA 5 7 0 0 0 0 AGTPBP1 23287 broad.mit.edu 37 9 88203249 88203249 + Missense_Mutation SNP A A C TCGA-CQ-5330-01A-01D-1683-08 TCGA-CQ-5330-10A-01D-1683-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 4ce7e702-9b62-459e-b2b4-a26cabba3a93 690340f2-8307-43ea-ac77-21828b243e05 g.chr9:88203249A>C uc011ltd.1 - 20 2900 c.2867T>G c.(2866-2868)GTC>GGC p.V956G AGTPBP1_uc004aod.3_Missense_Mutation_p.V582G|AGTPBP1_uc011ltc.1_Intron|AGTPBP1_uc010mqc.2_Missense_Mutation_p.V916G|AGTPBP1_uc011lte.1_Missense_Mutation_p.V968G NM_015239 NP_056054 Q9UPW5 CBPC1_HUMAN ATP/GTP binding protein 1 956 C-terminal protein deglutamylation|cerebellar Purkinje cell differentiation|eye photoreceptor cell differentiation|mitochondrion organization|neuromuscular process|olfactory bulb development|protein side chain deglutamylation|proteolysis cytosol|mitochondrion|nucleus metallocarboxypeptidase activity|tubulin binding|zinc ion binding ovary(4)|large_intestine(2)|skin(1) 7 TAACATAGGGACAATTTTAAA 0.348 NA 13 30 0 0 0 0 OMD 4958 broad.mit.edu 37 9 95177520 95177520 + Missense_Mutation SNP C C T TCGA-CQ-5330-01A-01D-1683-08 TCGA-CQ-5330-10A-01D-1683-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 4ce7e702-9b62-459e-b2b4-a26cabba3a93 690340f2-8307-43ea-ac77-21828b243e05 g.chr9:95177520C>T uc004asd.3 - 3 1549 c.1180G>A c.(1180-1182)GAT>AAT p.D394N CENPP_uc004arz.2_Intron|CENPP_uc010mqx.2_Intron NM_005014 NP_005005 Q99983 OMD_HUMAN osteomodulin precursor 394 Asp/Glu-rich (acidic). cell adhesion proteinaceous extracellular matrix ovary(2) 2 TCAGGATCATCGTGATCTTCA 0.368 NA T USP6 aneurysmal bone cysts 26 38 0 0 0 0 BSPRY 54836 broad.mit.edu 37 9 116132021 116132021 + Missense_Mutation SNP G G A TCGA-CQ-5330-01A-01D-1683-08 TCGA-CQ-5330-10A-01D-1683-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 4ce7e702-9b62-459e-b2b4-a26cabba3a93 690340f2-8307-43ea-ac77-21828b243e05 g.chr9:116132021G>A uc004bhg.3 + 6 856 c.808G>A c.(808-810)GAC>AAC p.D270N BSPRY_uc010muw.2_3'UTR NM_017688 NP_060158 Q5W0U4 BSPRY_HUMAN B-box and SPRY domain containing 270 B30.2/SPRY. calcium ion transport cytoplasm|membrane zinc ion binding breast(1) 1 GGAGCGCTTCGACCACTGGCC 0.577 NA 15 51 0 0 0 0 SEC16A 9919 broad.mit.edu 37 9 139371059 139371059 + Missense_Mutation SNP G G A TCGA-CQ-5330-01A-01D-1683-08 TCGA-CQ-5330-10A-01D-1683-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 4ce7e702-9b62-459e-b2b4-a26cabba3a93 690340f2-8307-43ea-ac77-21828b243e05 g.chr9:139371059G>A uc004chx.2 - 3 1318 c.1009C>T c.(1009-1011)CTC>TTC p.L337F SEC16A_uc004chv.3_5'Flank|SEC16A_uc004chw.2_Missense_Mutation_p.L337F|SEC16A_uc010nbn.2_Missense_Mutation_p.L337F|SEC16A_uc010nbo.1_Missense_Mutation_p.L337F NM_014866 NP_055681 O15027 SC16A_HUMAN SEC16 homolog A 159 protein transport|vesicle-mediated transport endoplasmic reticulum membrane|Golgi membrane 0 Myeloproliferative disorder(178;0.0511) Epithelial(140;2.9e-06)|OV - Ovarian serous cystadenocarcinoma(145;5.88e-06) CCCCGGGCGAGGGGGTTCACA 0.617 NA 7 39 0 0 0 0 SUV39H1 6839 broad.mit.edu 37 X 48558589 48558589 + Silent SNP G G A TCGA-CQ-5330-01A-01D-1683-08 TCGA-CQ-5330-10A-01D-1683-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 4ce7e702-9b62-459e-b2b4-a26cabba3a93 690340f2-8307-43ea-ac77-21828b243e05 g.chrX:48558589G>A uc004dkn.2 + 3 318 c.273G>A c.(271-273)AAG>AAA p.K91K SUV39H1_uc011mmf.1_Silent_p.K102K|SUV39H1_uc011mmg.1_RNA NM_003173 NP_003164 O43463 SUV91_HUMAN suppressor of variegation 3-9 homolog 1 91 Chromo. cell cycle|cell differentiation|chromatin silencing at rDNA|interspecies interaction between organisms|rRNA processing|transcription, DNA-dependent chromatin silencing complex|chromosome, centromeric region|condensed nuclear chromosome|rDNA heterochromatin chromatin binding|histone methyltransferase activity (H3-K9 specific)|protein N-terminus binding|zinc ion binding 0 AGTTCCACAAGGACTTAGAAA 0.567 NA 3 9 0 0 0 0 ZNF711 7552 broad.mit.edu 37 X 84523345 84523345 + Missense_Mutation SNP C C T TCGA-CQ-5330-01A-01D-1683-08 TCGA-CQ-5330-10A-01D-1683-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 4ce7e702-9b62-459e-b2b4-a26cabba3a93 690340f2-8307-43ea-ac77-21828b243e05 g.chrX:84523345C>T uc004eeo.2 + 7 1309 c.962C>T c.(961-963)TCA>TTA p.S321L ZNF711_uc004eep.2_Missense_Mutation_p.S321L|ZNF711_uc004eeq.2_Missense_Mutation_p.S367L|ZNF711_uc011mqy.1_5'UTR NM_021998 NP_068838 Q9Y462 ZN711_HUMAN zinc finger protein 711 321 positive regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus protein binding|sequence-specific DNA binding|zinc ion binding ovary(3)|skin(1) 4 TGTCAAGCATCAGGTAAGAGA 0.303 NA 14 26 0 0 0 0 ZBTB33 10009 broad.mit.edu 37 X 119388776 119388776 + Silent SNP A A G TCGA-CQ-5330-01A-01D-1683-08 TCGA-CQ-5330-10A-01D-1683-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 4ce7e702-9b62-459e-b2b4-a26cabba3a93 690340f2-8307-43ea-ac77-21828b243e05 g.chrX:119388776A>G uc004esn.1 + 2 1734 c.1506A>G c.(1504-1506)TCA>TCG p.S502S ZBTB33_uc010nqm.1_Silent_p.S502S NM_006777 NP_006768 Q86T24 KAISO_HUMAN kaiso 502 Interaction with CTNND1 (By similarity).|C2H2-type 1. intracellular signal transduction|regulation of transcription, DNA-dependent|transcription, DNA-dependent|Wnt receptor signaling pathway cytoplasm|nucleolus|plasma membrane DNA binding|protein binding|zinc ion binding ovary(1)|pancreas(1)|skin(1) 3 GCAAAAGGTCATATGTCTGTC 0.383 NA 12 115 0 0 0 0 MST4 51765 broad.mit.edu 37 X 131205199 131205199 + Missense_Mutation SNP G G A TCGA-CQ-5330-01A-01D-1683-08 TCGA-CQ-5330-10A-01D-1683-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 4ce7e702-9b62-459e-b2b4-a26cabba3a93 690340f2-8307-43ea-ac77-21828b243e05 g.chrX:131205199G>A uc004ewk.1 + 8 1187 c.886G>A c.(886-888)GCA>ACA p.A296T MST4_uc004ewl.1_Missense_Mutation_p.A219T|MST4_uc011mux.1_Missense_Mutation_p.A318T|MST4_uc010nrj.1_Missense_Mutation_p.A296T|MST4_uc004ewm.1_Missense_Mutation_p.A234T NM_016542 NP_057626 Q9P289 MST4_HUMAN serine/threonine protein kinase MST4 isoform 1 296 cellular component disassembly involved in apoptosis|regulation of apoptosis cytosol|Golgi membrane ATP binding|identical protein binding|magnesium ion binding|protein serine/threonine kinase activity ovary(3)|lung(3)|stomach(2)|upper_aerodigestive_tract(1) 9 Acute lymphoblastic leukemia(192;0.000127) GAGATGGAAGGCAGAAGGACA 0.328 NA 35 97 0 0 0 0 FGF13 2258 broad.mit.edu 37 X 137791006 137791006 + Missense_Mutation SNP C C T TCGA-CQ-5330-01A-01D-1683-08 TCGA-CQ-5330-10A-01D-1683-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 4ce7e702-9b62-459e-b2b4-a26cabba3a93 690340f2-8307-43ea-ac77-21828b243e05 g.chrX:137791006C>T uc004fam.2 - 2 934 c.272G>A c.(271-273)GGC>GAC p.G91D FGF13_uc004fan.2_Missense_Mutation_p.G38D|FGF13_uc011mwi.1_Missense_Mutation_p.G72D|FGF13_uc004faq.2_Missense_Mutation_p.G101D|FGF13_uc004far.2_Missense_Mutation_p.G72D|FGF13_uc011mwj.1_Missense_Mutation_p.G101D|FGF13_uc011mwk.1_Missense_Mutation_p.G45D NM_004114 NP_004105 Q92913 FGF13_HUMAN fibroblast growth factor 13 isoform 1 91 cell-cell signaling|MAPKKK cascade|nervous system development cytoplasm|nucleus growth factor activity|protein kinase activator activity ovary(1)|large_intestine(1)|breast(1) 3 Acute lymphoblastic leukemia(192;0.000127) ATCTTTGGTGCCATCAATGGT 0.393 NA 38 167 0 0 0 0 PLXNA3 55558 broad.mit.edu 37 X 153696765 153696765 + Silent SNP C C T rs140160422 byFrequency TCGA-CQ-5330-01A-01D-1683-08 TCGA-CQ-5330-10A-01D-1683-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 4ce7e702-9b62-459e-b2b4-a26cabba3a93 690340f2-8307-43ea-ac77-21828b243e05 g.chrX:153696765C>T uc004flm.2 + 23 4256 c.4083C>T c.(4081-4083)CGC>CGT p.R1361R NM_017514 NP_059984 P51805 PLXA3_HUMAN plexin A3 precursor 1361 Cytoplasmic (Potential). axon guidance integral to membrane|intracellular|plasma membrane transmembrane receptor activity upper_aerodigestive_tract(1)|ovary(1)|central_nervous_system(1) 3 all_cancers(53;5.05e-16)|all_epithelial(53;1.87e-10)|all_lung(58;1.84e-07)|Lung NSC(58;5.84e-07)|all_hematologic(71;2.45e-06)|Acute lymphoblastic leukemia(192;6.56e-05)|Breast(217;0.176) TGCGCGACCGCGGCACCGTGG 0.667 NA 9 24 0 0 0 0 CDKN2A 1029 broad.mit.edu 37 9 21971045 21971059 + In_Frame_Del DEL CCAGCCGCGCCCCGG CCAGCCGCGCCCCGG - rs143282362 TCGA-CQ-5330-01A-01D-1683-08 TCGA-CQ-5330-10A-01D-1683-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 4ce7e702-9b62-459e-b2b4-a26cabba3a93 690340f2-8307-43ea-ac77-21828b243e05 g.chr9:21971045_21971059delCCAGCCGCGCCCCGG uc003zpk.2 - 2 511_525 c.299_313delCCGGGGCGCGGCTGG c.(298-315)GCCGGGGCGCGGCTGGAC>GAC p.AGARL100del MTAP_uc003zpi.1_Intron|CDKN2A_uc003zpj.2_3'UTR|CDKN2A_uc010miu.2_RNA|CDKN2A_uc003zpl.2_In_Frame_Del_p.155_160GRGAAG>G NM_000077 NP_000068 P42771 CD2A1_HUMAN cyclin-dependent kinase inhibitor 2A isoform 1 100_104 ANK 3. Missing. cell cycle arrest|cell cycle checkpoint|G1 phase of mitotic cell cycle|G1/S transition of mitotic cell cycle|induction of apoptosis|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of cell-matrix adhesion|negative regulation of cyclin-dependent protein kinase activity|negative regulation of NF-kappaB transcription factor activity|positive regulation of macrophage apoptosis|positive regulation of smooth muscle cell apoptosis|Ras protein signal transduction|replicative senescence cytosol|nucleus cyclin-dependent protein kinase inhibitor activity|NF-kappaB binding|protein binding|protein binding|protein kinase binding p.0?(1112)|p.?(13)|p.G101G(3)|p.A100S(3)|p.A102V(3)|p.L104fs*42(2)|p.D105fs*41(2)|p.A102A(2)|p.A102E(2)|p.A100P(2)|p.H83fs*2(2)|p.R103Q(1)|p.R103R(1)|p.T93_D105del(1)|p.A100V(1)|p.G101fs*17(1)|p.A68fs*3(1)|p.A102fs*18(1)|p.R103fs*43(1)|p.G101W(1)|p.D105N(1)|p.A102P(1)|p.A102T(1)|p.A102fs*42(1) haematopoietic_and_lymphoid_tissue(647)|skin(419)|upper_aerodigestive_tract(414)|central_nervous_system(381)|lung(325)|pancreas(244)|oesophagus(230)|urinary_tract(225)|pleura(94)|liver(91)|soft_tissue(79)|bone(77)|ovary(76)|biliary_tract(71)|stomach(46)|breast(46)|kidney(39)|NS(28)|thyroid(24)|cervix(23)|meninges(18)|genital_tract(15)|endometrium(13)|prostate(11)|autonomic_ganglia(10)|salivary_gland(10)|large_intestine(9)|adrenal_gland(6)|eye(4)|vulva(2)|small_intestine(1) 3678 all_cancers(5;0)|Acute lymphoblastic leukemia(3;0)|all_hematologic(3;0)|all_epithelial(2;2.37e-290)|Lung NSC(2;1.26e-139)|all_lung(2;4.48e-131)|Glioma(2;3.26e-60)|all_neural(2;2.1e-52)|Renal(3;1.07e-46)|Esophageal squamous(3;3.83e-46)|Melanoma(2;2.74e-34)|Breast(3;1.14e-11)|Ovarian(3;0.000128)|Hepatocellular(5;0.00162)|Colorectal(97;0.172) all cancers(2;0)|GBM - Glioblastoma multiforme(3;0)|Lung(2;4.07e-74)|Epithelial(2;1.08e-61)|LUSC - Lung squamous cell carcinoma(2;3.82e-48)|LUAD - Lung adenocarcinoma(2;4.56e-26)|OV - Ovarian serous cystadenocarcinoma(39;7.64e-10)|BRCA - Breast invasive adenocarcinoma(2;5.01e-09)|STAD - Stomach adenocarcinoma(4;4.63e-07)|Kidney(2;5.79e-07)|KIRC - Kidney renal clear cell carcinoma(2;7.27e-07)|COAD - Colon adenocarcinoma(8;5.15e-05) TCGCGCACGTCCAGCCGCGCCCCGGCCCGGTGCAG 0.758 17 Uveal_Melanoma_Familial|Familial_Malignant_Melanoma_and_Tumors_of_the_Nervous_System|Hereditary_Melanoma HNSCC(2;<9.43e_08)|TSP Lung(5;3.83e-07) 21 30 --- --- --- --- NA NA NA NA HUWE1 10075 broad.mit.edu 37 X 53562382 53562384 + In_Frame_Del DEL CTT CTT - TCGA-CQ-5330-01A-01D-1683-08 TCGA-CQ-5330-10A-01D-1683-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 4ce7e702-9b62-459e-b2b4-a26cabba3a93 690340f2-8307-43ea-ac77-21828b243e05 g.chrX:53562382_53562384delCTT uc004dsp.2 - 81 13012_13014 c.12610_12612delAAG c.(12610-12612)AAGdel p.K4204del HUWE1_uc004dsn.2_In_Frame_Del_p.K3012del NM_031407 NP_113584 Q7Z6Z7 HUWE1_HUMAN HECT, UBA and WWE domain containing 1 4204 HECT. 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 p.K4094del(1) ovary(8)|large_intestine(4)|breast(4)|kidney(1) 17 GTACATACTCCTTCTTATTCTCC 0.438 NA 19 61 --- --- --- --- NA NA NA NA