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 MTOR 2475 broad.mit.edu 37 1 11186691 11186691 + Missense_Mutation SNP A A T TCGA-DQ-7588-01A-11D-2078-08 TCGA-DQ-7588-10B-01D-2078-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 6aad9b01-6a99-4f21-955f-7938af25a188 2805f3b2-5a20-4124-a730-3bb6ea20ffc0 g.chr1:11186691A>T uc001asd.2 - 46 6635 c.6514T>A c.(6514-6516)TTG>ATG p.L2172M MTOR_uc001asc.2_Missense_Mutation_p.L377M NM_004958 NP_004949 P42345 MTOR_HUMAN FK506 binding protein 12-rapamycin associated 2172 cell growth|cellular response to hypoxia|insulin receptor signaling pathway|nerve growth factor receptor signaling pathway|peptidyl-serine phosphorylation|phosphatidylinositol-mediated signaling|protein autophosphorylation|protein catabolic process|response to amino acid stimulus|response to nutrient|T cell costimulation|TOR signaling cascade endoplasmic reticulum membrane|Golgi membrane|lysosome|mitochondrial outer membrane|phosphatidylinositol 3-kinase complex|PML body|TORC1 complex|TORC2 complex ATP binding|phosphoprotein binding|protein serine/threonine kinase activity central_nervous_system(7)|lung(6)|ovary(6)|skin(3)|kidney(3)|large_intestine(2)|breast(2) 29 ATAAGTGTCAATTTCCGGGGC 0.512 NA 20 29 0 0 0 0 LOC440563 440563 broad.mit.edu 37 1 13183335 13183335 + Missense_Mutation SNP G G T TCGA-DQ-7588-01A-11D-2078-08 TCGA-DQ-7588-10B-01D-2078-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 6aad9b01-6a99-4f21-955f-7938af25a188 2805f3b2-5a20-4124-a730-3bb6ea20ffc0 g.chr1:13183335G>T uc010obg.1 - 1 633 c.538C>A c.(538-540)CTT>ATT p.L180I NM_001136561 NP_001130033 B2RXH8 B2RXH8_HUMAN heterogeneous nuclear ribonucleoprotein C-like 180 ribonucleoprotein complex nucleic acid binding|nucleotide binding 0 ATGGCCTGAAGGTCATCTCCT 0.453 NA 88 403 4.78e-37 5.58e-37 1 0 EPHB2 2048 broad.mit.edu 37 1 23235659 23235659 + Nonsense_Mutation SNP C C T TCGA-DQ-7588-01A-11D-2078-08 TCGA-DQ-7588-10B-01D-2078-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 6aad9b01-6a99-4f21-955f-7938af25a188 2805f3b2-5a20-4124-a730-3bb6ea20ffc0 g.chr1:23235659C>T uc009vqj.1 + 13 2642 c.2497C>T c.(2497-2499)CAG>TAG p.Q833* EPHB2_uc001bge.2_Nonsense_Mutation_p.Q834*|EPHB2_uc001bgf.2_Nonsense_Mutation_p.Q833*|EPHB2_uc010odu.1_Nonsense_Mutation_p.Q775* NM_017449 NP_059145 P29323 EPHB2_HUMAN ephrin receptor EphB2 isoform 1 precursor 833 Cytoplasmic (Potential).|Protein kinase. axon guidance integral to plasma membrane ATP binding|transmembrane-ephrin receptor activity ovary(3)|lung(1)|pancreas(1) 5 Colorectal(325;3.46e-05)|Lung NSC(340;3.7e-05)|all_lung(284;5.45e-05)|Renal(390;0.000228)|Breast(348;0.0027)|Ovarian(437;0.00327)|Myeloproliferative disorder(586;0.0258) UCEC - Uterine corpus endometrioid carcinoma (279;0.0348)|OV - Ovarian serous cystadenocarcinoma(117;3.67e-26)|Colorectal(126;3.23e-08)|COAD - Colon adenocarcinoma(152;9.32e-07)|GBM - Glioblastoma multiforme(114;2.93e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000606)|KIRC - Kidney renal clear cell carcinoma(1967;0.00371)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.126)|Lung(427;0.153) CATGACCAACCAGGATGTAAG 0.592 NA Hereditary_Prostate_Cancer 15 37 0 0 0 0 ELAVL4 1996 broad.mit.edu 37 1 50642774 50642774 + Silent SNP G G T TCGA-DQ-7588-01A-11D-2078-08 TCGA-DQ-7588-10B-01D-2078-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 6aad9b01-6a99-4f21-955f-7938af25a188 2805f3b2-5a20-4124-a730-3bb6ea20ffc0 g.chr1:50642774G>T uc001csb.2 + 3 532 c.264G>T c.(262-264)GGG>GGT p.G88G ELAVL4_uc001cry.3_Silent_p.G91G|ELAVL4_uc001crz.3_Silent_p.G88G|ELAVL4_uc001csa.3_Silent_p.G105G|ELAVL4_uc001csc.3_Silent_p.G88G|ELAVL4_uc009vyu.2_Silent_p.G93G|ELAVL4_uc010omz.1_Silent_p.G93G NM_021952 NP_068771 P26378 ELAV4_HUMAN ELAV-like 4 isoform 1 88 RRM 1. mRNA processing AU-rich element binding|mRNA 3'-UTR binding|nucleotide binding ovary(1)|pancreas(1) 2 AGAGTTTAGGGTATGGATTTG 0.274 NA 16 29 6.32e-08 6.89e-08 1 0 DOCK7 85440 broad.mit.edu 37 1 63005526 63005526 + Missense_Mutation SNP T T A TCGA-DQ-7588-01A-11D-2078-08 TCGA-DQ-7588-10B-01D-2078-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 6aad9b01-6a99-4f21-955f-7938af25a188 2805f3b2-5a20-4124-a730-3bb6ea20ffc0 g.chr1:63005526T>A uc001daq.2 - 26 3117 c.3083A>T c.(3082-3084)AAA>ATA p.K1028I DOCK7_uc001dan.2_Missense_Mutation_p.K889I|DOCK7_uc001dao.2_Missense_Mutation_p.K889I|DOCK7_uc001dap.2_Missense_Mutation_p.K997I|DOCK7_uc001dam.2_Missense_Mutation_p.K208I NM_033407 NP_212132 Q96N67 DOCK7_HUMAN dedicator of cytokinesis 7 1028 activation of Rac GTPase activity|axonogenesis|establishment of neuroblast polarity|microtubule cytoskeleton organization|positive regulation of peptidyl-serine phosphorylation axon|basal part of cell|growth cone GTP binding|guanyl-nucleotide exchange factor activity|Rac GTPase binding ovary(2) 2 AGCCTCAAGTTTATCATTAAA 0.328 NA 10 17 0 0 0 0 GBP1 2633 broad.mit.edu 37 1 89521862 89521862 + Missense_Mutation SNP G G A TCGA-DQ-7588-01A-11D-2078-08 TCGA-DQ-7588-10B-01D-2078-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 6aad9b01-6a99-4f21-955f-7938af25a188 2805f3b2-5a20-4124-a730-3bb6ea20ffc0 g.chr1:89521862G>A uc001dmx.2 - 8 1425 c.1205C>T c.(1204-1206)GCA>GTA p.A402V NM_002053 NP_002044 P32455 GBP1_HUMAN guanylate binding protein 1, 402 interferon-gamma-mediated signaling pathway plasma membrane GTP binding|GTPase activity ovary(1)|skin(1) 2 Lung NSC(277;0.123) all cancers(265;0.0156)|Epithelial(280;0.0291) ATCTGATGATGCTTCCTGATT 0.413 NA 48 98 0 0 0 0 SV2A 9900 broad.mit.edu 37 1 149880767 149880767 + Silent SNP A A T TCGA-DQ-7588-01A-11D-2078-08 TCGA-DQ-7588-10B-01D-2078-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 6aad9b01-6a99-4f21-955f-7938af25a188 2805f3b2-5a20-4124-a730-3bb6ea20ffc0 g.chr1:149880767A>T uc001etg.2 - 8 1847 c.1356T>A c.(1354-1356)GGT>GGA p.G452G SV2A_uc009wlk.2_5'Flank|SV2A_uc001eth.2_Silent_p.G452G NM_014849 NP_055664 Q7L0J3 SV2A_HUMAN synaptic vesicle glycoprotein 2 452 Helical; (Potential). neurotransmitter transport cell junction|endoplasmic reticulum|integral to membrane|synaptic vesicle membrane transmembrane transporter activity ovary(6)|pancreas(1) 7 Breast(34;0.00769)|all_hematologic(923;0.127)|Colorectal(459;0.171) LUSC - Lung squamous cell carcinoma(543;0.221)|STAD - Stomach adenocarcinoma(528;0.247) Levetiracetam(DB01202) TGAACCACACACCCATCATCA 0.532 NA 29 41 0 0 0 0 COPA 1314 broad.mit.edu 37 1 160267363 160267363 + Missense_Mutation SNP C C T TCGA-DQ-7588-01A-11D-2078-08 TCGA-DQ-7588-10B-01D-2078-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 6aad9b01-6a99-4f21-955f-7938af25a188 2805f3b2-5a20-4124-a730-3bb6ea20ffc0 g.chr1:160267363C>T uc009wti.2 - 20 2544 c.2150G>A c.(2149-2151)CGC>CAC p.R717H COPA_uc001fvv.3_Missense_Mutation_p.R726H NM_004371 NP_004362 P53621 COPA_HUMAN coatomer protein complex, subunit alpha isoform 717 COPI coating of Golgi vesicle|intracellular protein transport|pancreatic juice secretion|retrograde vesicle-mediated transport, Golgi to ER COPI vesicle coat|cytosol|extracellular space|microsome|soluble fraction hormone activity|structural molecule activity ovary(1)|skin(1) 2 all_cancers(52;8.15e-18)|all_hematologic(112;0.093) BRCA - Breast invasive adenocarcinoma(70;0.111) CATCATCTTGCGAAGTTTTTC 0.438 NA 26 66 0 0 0 0 PTPRC 5788 broad.mit.edu 37 1 198713186 198713186 + Nonsense_Mutation SNP C C T TCGA-DQ-7588-01A-11D-2078-08 TCGA-DQ-7588-10B-01D-2078-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 6aad9b01-6a99-4f21-955f-7938af25a188 2805f3b2-5a20-4124-a730-3bb6ea20ffc0 g.chr1:198713186C>T uc001gur.1 + 26 2875 c.2695C>T c.(2695-2697)CAG>TAG p.Q899* PTPRC_uc001gus.1_Nonsense_Mutation_p.Q851*|PTPRC_uc001gut.1_Nonsense_Mutation_p.Q738* NM_002838 NP_002829 P08575 PTPRC_HUMAN protein tyrosine phosphatase, receptor type, C 899 Cytoplasmic (Potential).|Tyrosine-protein phosphatase 1. axon guidance|B cell proliferation|B cell receptor signaling pathway|defense response to virus|immunoglobulin biosynthetic process|negative regulation of cytokine-mediated signaling pathway|negative regulation of protein kinase activity|negative regulation of T cell mediated cytotoxicity|positive regulation of antigen receptor-mediated signaling pathway|positive regulation of B cell proliferation|positive regulation of protein kinase activity|positive regulation of T cell proliferation|regulation of S phase|release of sequestered calcium ion into cytosol|T cell differentiation|T cell receptor signaling pathway focal adhesion|integral to plasma membrane|membrane raft protein kinase binding|transmembrane receptor protein tyrosine phosphatase activity breast(4)|skin(3)|ovary(2)|lung(1)|kidney(1)|pancreas(1) 12 ATTGTAGGCCCAGTACATCTT 0.328 NA 6 25 0 0 0 0 KLHL12 59349 broad.mit.edu 37 1 202887508 202887508 + Missense_Mutation SNP G G T TCGA-DQ-7588-01A-11D-2078-08 TCGA-DQ-7588-10B-01D-2078-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 6aad9b01-6a99-4f21-955f-7938af25a188 2805f3b2-5a20-4124-a730-3bb6ea20ffc0 g.chr1:202887508G>T uc001gyo.1 - 4 558 c.358C>A c.(358-360)CAA>AAA p.Q120K KLHL12_uc001gyn.1_5'UTR|KLHL12_uc010pqc.1_Missense_Mutation_p.Q158K|KLHL12_uc009xah.1_Missense_Mutation_p.Q120K NM_021633 NP_067646 Q53G59 KLH12_HUMAN kelch-like 12 120 Wnt receptor signaling pathway protein binding 0 BRCA - Breast invasive adenocarcinoma(75;0.166) CAGCAGGCTTGTTTCACACCT 0.428 NA 26 34 3.08e-08 3.39e-08 1 0 KLHDC8A 55220 broad.mit.edu 37 1 205308854 205308854 + Missense_Mutation SNP G G T TCGA-DQ-7588-01A-11D-2078-08 TCGA-DQ-7588-10B-01D-2078-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 6aad9b01-6a99-4f21-955f-7938af25a188 2805f3b2-5a20-4124-a730-3bb6ea20ffc0 g.chr1:205308854G>T uc001hcf.1 - 3 1027 c.459C>A c.(457-459)GAC>GAA p.D153E KLHDC8A_uc010prg.1_Missense_Mutation_p.D40E|KLHDC8A_uc001hcg.1_Missense_Mutation_p.D153E NM_018203 NP_060673 Q8IYD2 KLD8A_HUMAN kelch domain containing 8A 153 Kelch 4. ovary(1) 1 Breast(84;0.23) BRCA - Breast invasive adenocarcinoma(75;0.117) ACACCCACATGTCCTTCAGCA 0.552 NA 9 28 3.1e-07 3.35e-07 1 0 PTPN14 5784 broad.mit.edu 37 1 214585062 214585062 + Nonsense_Mutation SNP G G A TCGA-DQ-7588-01A-11D-2078-08 TCGA-DQ-7588-10B-01D-2078-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 6aad9b01-6a99-4f21-955f-7938af25a188 2805f3b2-5a20-4124-a730-3bb6ea20ffc0 g.chr1:214585062G>A uc001hkk.1 - 5 746 c.475C>T c.(475-477)CAA>TAA p.Q159* PTPN14_uc010pty.1_Nonsense_Mutation_p.Q60* NM_005401 NP_005392 Q15678 PTN14_HUMAN protein tyrosine phosphatase, non-receptor type 159 FERM. Q -> E (in a breast cancer sample; somatic mutation). lymphangiogenesis cytoplasm|cytoskeleton protein tyrosine phosphatase activity|receptor tyrosine kinase binding p.Q159E(1) breast(2)|ovary(1)|kidney(1)|skin(1) 5 OV - Ovarian serous cystadenocarcinoma(81;0.00181)|all cancers(67;0.00194)|Epithelial(68;0.0157)|GBM - Glioblastoma multiforme(131;0.155) AGGAAATCTTGAGAATCAAAC 0.303 NA 14 25 0 0 0 0 MIA3 375056 broad.mit.edu 37 1 222803326 222803326 + Missense_Mutation SNP G G C TCGA-DQ-7588-01A-11D-2078-08 TCGA-DQ-7588-10B-01D-2078-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 6aad9b01-6a99-4f21-955f-7938af25a188 2805f3b2-5a20-4124-a730-3bb6ea20ffc0 g.chr1:222803326G>C uc001hnl.2 + 4 2773 c.2764G>C c.(2764-2766)GAC>CAC p.D922H MIA3_uc009xea.1_Missense_Mutation_p.D758H NM_198551 NP_940953 Q5JRA6 MIA3_HUMAN melanoma inhibitory activity family, member 3 922 Extracellular (Potential). exocytosis|negative regulation of cell adhesion|negative regulation of cell migration|positive regulation of leukocyte migration|protein transport|wound healing endoplasmic reticulum membrane|integral to membrane protein binding ovary(4)|central_nervous_system(1) 5 GBM - Glioblastoma multiforme(131;0.0199) CAAGAGGGAGGACTTACTTAT 0.468 NA 6 49 0 0 0 0 OR2W3 343171 broad.mit.edu 37 1 248059405 248059405 + Nonsense_Mutation SNP G G T rs139271211 TCGA-DQ-7588-01A-11D-2078-08 TCGA-DQ-7588-10B-01D-2078-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 6aad9b01-6a99-4f21-955f-7938af25a188 2805f3b2-5a20-4124-a730-3bb6ea20ffc0 g.chr1:248059405G>T uc001idp.1 + 3 786 c.517G>T c.(517-519)GAG>TAG p.E173* OR2W3_uc010pzb.1_Nonsense_Mutation_p.E173* NM_001001957 NP_001001957 Q7Z3T1 OR2W3_HUMAN olfactory receptor, family 2, subfamily W, 173 Extracellular (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity ovary(1)|breast(1)|pancreas(1) 3 all_cancers(71;0.000139)|all_epithelial(71;1.58e-05)|Breast(184;0.0117)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136) OV - Ovarian serous cystadenocarcinoma(106;0.0319) TGGGCACCACGAGGTGGACCA 0.657 NA 27 33 2.37e-06 2.53e-06 1 0 CAMK1D 57118 broad.mit.edu 37 10 12856261 12856261 + Missense_Mutation SNP G G A TCGA-DQ-7588-01A-11D-2078-08 TCGA-DQ-7588-10B-01D-2078-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 6aad9b01-6a99-4f21-955f-7938af25a188 2805f3b2-5a20-4124-a730-3bb6ea20ffc0 g.chr10:12856261G>A uc001ilo.2 + 7 944 c.709G>A c.(709-711)GAA>AAA p.E237K CAMK1D_uc001iln.2_Missense_Mutation_p.E237K NM_153498 NP_705718 Q8IU85 KCC1D_HUMAN calcium/calmodulin-dependent protein kinase ID 237 Protein kinase. calcium- and calmodulin-dependent protein kinase complex|cytoplasm|nucleus ATP binding|calmodulin binding|calmodulin-dependent protein kinase activity ovary(1)|stomach(1) 2 GBM - Glioblastoma multiforme(1;3.16e-05) CCTCAAGGCGGAATATGAGTT 0.522 NA 27 26 0 0 0 0 KIAA1217 56243 broad.mit.edu 37 10 24762687 24762687 + Silent SNP G G A TCGA-DQ-7588-01A-11D-2078-08 TCGA-DQ-7588-10B-01D-2078-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 6aad9b01-6a99-4f21-955f-7938af25a188 2805f3b2-5a20-4124-a730-3bb6ea20ffc0 g.chr10:24762687G>A uc001iru.3 + 6 1780 c.1377G>A c.(1375-1377)CCG>CCA p.P459P KIAA1217_uc001irs.2_Silent_p.P379P|KIAA1217_uc001irt.3_Silent_p.P459P|KIAA1217_uc010qcy.1_Silent_p.P459P|KIAA1217_uc010qcz.1_Silent_p.P459P|KIAA1217_uc001irv.1_Silent_p.P309P|KIAA1217_uc010qda.1_RNA|KIAA1217_uc001irw.2_Silent_p.P177P|KIAA1217_uc001irz.2_Silent_p.P177P|KIAA1217_uc001irx.2_Silent_p.P177P|KIAA1217_uc001iry.2_Silent_p.P177P NM_019590 NP_062536 Q5T5P2 SKT_HUMAN sickle tail isoform 1 459 embryonic skeletal system development cytoplasm ovary(5)|skin(2) 7 GGAAATATCCGGATAGCCATT 0.502 NA 5 51 0 0 0 0 C10orf91 170393 broad.mit.edu 37 10 134261557 134261557 + Missense_Mutation SNP G G A TCGA-DQ-7588-01A-11D-2078-08 TCGA-DQ-7588-10B-01D-2078-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 6aad9b01-6a99-4f21-955f-7938af25a188 2805f3b2-5a20-4124-a730-3bb6ea20ffc0 g.chr10:134261557G>A uc001llm.2 + 3 470 c.430G>A c.(430-432)GAA>AAA p.E144K NM_173541 NP_775812 Q5T1B1 CJ091_HUMAN hypothetical protein LOC170393 144 ovary(1) 1 all_cancers(35;6.69e-12)|all_epithelial(44;1.55e-08)|Lung NSC(174;0.000845)|all_lung(145;0.00144)|all_neural(114;0.0299)|Breast(234;0.106)|Colorectal(31;0.109)|Melanoma(40;0.123)|Glioma(114;0.203)|all_hematologic(284;0.224) OV - Ovarian serous cystadenocarcinoma(35;6.95e-05)|Epithelial(32;0.000142)|all cancers(32;0.000162) TGCGGCCTTCGAAGCCTGAAG 0.662 NA 22 59 0 0 0 0 KCNQ1 3784 broad.mit.edu 37 11 2799262 2799262 + Missense_Mutation SNP G G C TCGA-DQ-7588-01A-11D-2078-08 TCGA-DQ-7588-10B-01D-2078-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 6aad9b01-6a99-4f21-955f-7938af25a188 2805f3b2-5a20-4124-a730-3bb6ea20ffc0 g.chr11:2799262G>C uc001lwn.2 + 15 1897 c.1789G>C c.(1789-1791)GAC>CAC p.D597H KCNQ1_uc009ydp.1_Missense_Mutation_p.D381H|KCNQ1_uc001lwo.2_Missense_Mutation_p.D470H NM_000218 NP_000209 P51787 KCNQ1_HUMAN potassium voltage-gated channel, KQT-like 597 Subunits assembly domain.|Cytoplasmic (Potential). blood circulation|membrane depolarization|muscle contraction|sensory perception of sound delayed rectifier potassium channel activity|protein binding ovary(1) 1 all_epithelial(84;3.26e-05)|Breast(177;0.001)|Medulloblastoma(188;0.00111)|Ovarian(85;0.00158)|all_neural(188;0.00725)|all_lung(207;0.11)|Lung NSC(207;0.159) BRCA - Breast invasive adenocarcinoma(625;0.00251)|Lung(200;0.131) Bepridil(DB01244)|Indapamide(DB00808) CCGAGTAGAAGACAAGGTAGG 0.612 NA 21 39 0 0 0 0 HBD 3045 broad.mit.edu 37 11 5255582 5255582 + Missense_Mutation SNP C C G rs35152987 byFrequency TCGA-DQ-7588-01A-11D-2078-08 TCGA-DQ-7588-10B-01D-2078-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 6aad9b01-6a99-4f21-955f-7938af25a188 2805f3b2-5a20-4124-a730-3bb6ea20ffc0 g.chr11:5255582C>G uc001maf.1 - 1 277 c.82G>C c.(82-84)GCC>CCC p.A28P NM_000519 NP_000510 P02042 HBD_HUMAN delta globin 28 blood coagulation hemoglobin complex heme binding|oxygen binding|oxygen transporter activity ovary(1) 1 Medulloblastoma(188;0.00225)|Breast(177;0.0155)|all_neural(188;0.0212) Epithelial(150;5.69e-10)|BRCA - Breast invasive adenocarcinoma(625;0.135) CTGCCCAGGGCCTCACCACCA 0.517 NA 19 38 0 0 0 0 OR6A2 8590 broad.mit.edu 37 11 6815960 6815960 + Missense_Mutation SNP A A G TCGA-DQ-7588-01A-11D-2078-08 TCGA-DQ-7588-10B-01D-2078-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 6aad9b01-6a99-4f21-955f-7938af25a188 2805f3b2-5a20-4124-a730-3bb6ea20ffc0 g.chr11:6815960A>G uc001mes.1 - 1 1180 c.980T>C c.(979-981)GTA>GCA p.V327A NM_003696 NP_003687 O95222 OR6A2_HUMAN olfactory receptor, family 6, subfamily A, 327 Cytoplasmic (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity ovary(3)|central_nervous_system(1)|pancreas(1) 5 Medulloblastoma(188;0.0523)|all_neural(188;0.236) Epithelial(150;4.78e-08)|BRCA - Breast invasive adenocarcinoma(625;0.129) TCCCTTCTATACATTTCTGCT 0.458 NA 30 41 0 0 0 0 NLRP14 338323 broad.mit.edu 37 11 7081185 7081185 + Missense_Mutation SNP C C A TCGA-DQ-7588-01A-11D-2078-08 TCGA-DQ-7588-10B-01D-2078-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 6aad9b01-6a99-4f21-955f-7938af25a188 2805f3b2-5a20-4124-a730-3bb6ea20ffc0 g.chr11:7081185C>A uc001mfb.1 + 9 3017 c.2694C>A c.(2692-2694)CAC>CAA p.H898Q NM_176822 NP_789792 Q86W24 NAL14_HUMAN NLR family, pyrin domain containing 14 898 cell differentiation|multicellular organismal development|spermatogenesis ATP binding ovary(3)|breast(2)|pancreas(1)|lung(1)|skin(1) 8 Epithelial(150;4.62e-08)|BRCA - Breast invasive adenocarcinoma(625;0.0871) CTCTTCTACACAACAAGAGCC 0.443 NA 42 86 4e-26 4.65e-26 1 0 USP47 55031 broad.mit.edu 37 11 11913622 11913622 + Silent SNP C C G TCGA-DQ-7588-01A-11D-2078-08 TCGA-DQ-7588-10B-01D-2078-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 6aad9b01-6a99-4f21-955f-7938af25a188 2805f3b2-5a20-4124-a730-3bb6ea20ffc0 g.chr11:11913622C>G uc001mjq.1 + 5 1288 c.525C>G c.(523-525)TCC>TCG p.S175S USP47_uc001mjr.2_Silent_p.S87S|USP47_uc001mjs.2_Silent_p.S155S NM_017944 NP_060414 Q96K76 UBP47_HUMAN ubiquitin specific protease 47 175 base-excision repair|cellular response to UV|monoubiquitinated protein deubiquitination|negative regulation of apoptosis|negative regulation of caspase activity|negative regulation of G2/M transition of mitotic cell cycle|negative regulation of transcription, DNA-dependent|positive regulation of cell growth|response to drug|ubiquitin-dependent protein catabolic process cytoplasm|SCF ubiquitin ligase complex ubiquitin thiolesterase activity|ubiquitin-specific protease activity|WD40-repeat domain binding ovary(1)|skin(1) 2 Epithelial(150;0.000339) AAAGCTACTCCTACTCATCTA 0.313 NA 29 71 0 0 0 0 SPTY2D1 144108 broad.mit.edu 37 11 18636404 18636404 + Missense_Mutation SNP G G C TCGA-DQ-7588-01A-11D-2078-08 TCGA-DQ-7588-10B-01D-2078-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 6aad9b01-6a99-4f21-955f-7938af25a188 2805f3b2-5a20-4124-a730-3bb6ea20ffc0 g.chr11:18636404G>C uc001moy.2 - 3 1633 c.1417C>G c.(1417-1419)CAT>GAT p.H473D SPTY2D1_uc010rdi.1_Missense_Mutation_p.H473D NM_194285 NP_919261 Q68D10 SPT2_HUMAN SPT2, Suppressor of Ty, domain containing 1 473 Ser-rich. breast(1) 1 CGAAGTTCATGTGGACTGCTC 0.622 NA 12 49 0 0 0 0 TMEM132A 54972 broad.mit.edu 37 11 60702152 60702152 + Silent SNP C C T TCGA-DQ-7588-01A-11D-2078-08 TCGA-DQ-7588-10B-01D-2078-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 6aad9b01-6a99-4f21-955f-7938af25a188 2805f3b2-5a20-4124-a730-3bb6ea20ffc0 g.chr11:60702152C>T uc001nqj.2 + 9 1945 c.1752C>T c.(1750-1752)CAC>CAT p.H584H TMEM132A_uc001nqi.2_Silent_p.H585H|TMEM132A_uc001nqm.2_Translation_Start_Site NM_178031 NP_821174 Q24JP5 T132A_HUMAN transmembrane protein 132A isoform b 584 Extracellular (Potential). endoplasmic reticulum membrane|Golgi membrane|integral to membrane skin(1) 1 TGGCGCCACACGCCCGCGTGC 0.721 NA 10 9 0 0 0 0 AHNAK 79026 broad.mit.edu 37 11 62293458 62293458 + Missense_Mutation SNP T T C TCGA-DQ-7588-01A-11D-2078-08 TCGA-DQ-7588-10B-01D-2078-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 6aad9b01-6a99-4f21-955f-7938af25a188 2805f3b2-5a20-4124-a730-3bb6ea20ffc0 g.chr11:62293458T>C uc001ntl.2 - 5 8731 c.8431A>G c.(8431-8433)ATC>GTC p.I2811V AHNAK_uc001ntk.1_Intron NM_001620 NP_001611 Q09666 AHNK_HUMAN AHNAK nucleoprotein isoform 1 2811 nervous system development nucleus protein binding ovary(10)|pancreas(4)|skin(4)|upper_aerodigestive_tract(1) 19 Melanoma(852;0.155) GGTCCTTCGATATTCACATCG 0.448 NA 22 153 0 0 0 0 ACY3 91703 broad.mit.edu 37 11 67412797 67412797 + Missense_Mutation SNP C C T TCGA-DQ-7588-01A-11D-2078-08 TCGA-DQ-7588-10B-01D-2078-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 6aad9b01-6a99-4f21-955f-7938af25a188 2805f3b2-5a20-4124-a730-3bb6ea20ffc0 g.chr11:67412797C>T uc001omq.2 - 5 658 c.487G>A c.(487-489)GAG>AAG p.E163K NM_080658 NP_542389 Q96HD9 ACY3_HUMAN aspartoacylase 3 163 interspecies interaction between organisms apical plasma membrane|cytoplasm hydrolase activity, acting on ester bonds|metal ion binding 0 L-Aspartic Acid(DB00128) TTGTAGCTCTCCTCCCCAGAC 0.657 NA 6 19 0 0 0 0 C11orf54 28970 broad.mit.edu 37 11 93483549 93483549 + Silent SNP C C A TCGA-DQ-7588-01A-11D-2078-08 TCGA-DQ-7588-10B-01D-2078-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 6aad9b01-6a99-4f21-955f-7938af25a188 2805f3b2-5a20-4124-a730-3bb6ea20ffc0 g.chr11:93483549C>A uc009ywi.2 + 4 424 c.93C>A c.(91-93)GTC>GTA p.V31V C11orf54_uc001pee.1_Silent_p.V31V|C11orf54_uc001pef.2_Silent_p.V31V|C11orf54_uc001peg.2_Silent_p.V31V|C11orf54_uc001peh.2_Silent_p.V31V|C11orf54_uc001pei.2_Silent_p.V12V|C11orf54_uc001pej.2_Silent_p.V12V NM_014039 NP_054758 Q9H0W9 CK054_HUMAN hypothetical protein LOC28970 31 nucleus hydrolase activity, acting on ester bonds|protein binding|zinc ion binding 0 Acute lymphoblastic leukemia(157;2.26e-05)|all_hematologic(158;0.0123) TTGCTGATGTCCAGGTCTCTG 0.338 NA 20 14 3.6e-14 4.08e-14 1 0 TAS2R19 259294 broad.mit.edu 37 12 11174444 11174444 + Silent SNP G G A TCGA-DQ-7588-01A-11D-2078-08 TCGA-DQ-7588-10B-01D-2078-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 6aad9b01-6a99-4f21-955f-7938af25a188 2805f3b2-5a20-4124-a730-3bb6ea20ffc0 g.chr12:11174444G>A uc010shj.1 - 1 727 c.727C>T c.(727-729)CTG>TTG p.L243L PRR4_uc009zhp.2_Intron|PRH1_uc001qzb.3_Intron|PRH1_uc001qzc.2_Intron|PRB4_uc001qzf.1_Intron|PRH1_uc001qzj.2_Intron NM_176888 NP_795369 P59542 T2R19_HUMAN taste receptor, type 2, member 19 243 Helical; Name=6; (Potential). sensory perception of taste integral to membrane G-protein coupled receptor activity skin(1) 1 ATTATACACAGAAAGTAAATG 0.428 NA 35 95 0 0 0 0 PLEKHA5 54477 broad.mit.edu 37 12 19501415 19501415 + Nonsense_Mutation SNP C C A TCGA-DQ-7588-01A-11D-2078-08 TCGA-DQ-7588-10B-01D-2078-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 6aad9b01-6a99-4f21-955f-7938af25a188 2805f3b2-5a20-4124-a730-3bb6ea20ffc0 g.chr12:19501415C>A uc001reb.2 + 19 2569 c.2483C>A c.(2482-2484)TCA>TAA p.S828* PLEKHA5_uc010sie.1_Nonsense_Mutation_p.S989*|PLEKHA5_uc001rea.2_Nonsense_Mutation_p.S886*|PLEKHA5_uc009zin.2_Nonsense_Mutation_p.S586*|PLEKHA5_uc010sif.1_Nonsense_Mutation_p.S817*|PLEKHA5_uc010sig.1_Nonsense_Mutation_p.S810*|PLEKHA5_uc010sih.1_Nonsense_Mutation_p.S783*|PLEKHA5_uc001rec.1_Nonsense_Mutation_p.S637*|PLEKHA5_uc009zio.2_Intron NM_019012 NP_061885 Q9HAU0 PKHA5_HUMAN pleckstrin homology domain containing, family A 828 1-phosphatidylinositol binding|protein binding ovary(1)|kidney(1)|skin(1) 3 Acute lymphoblastic leukemia(4;0.000455)|all_hematologic(4;0.00804) GAAGAAAAATCAGAACCTGTT 0.353 NA 26 36 1.34e-20 1.55e-20 1 0 KRT86 3892 broad.mit.edu 37 12 52699102 52699102 + Missense_Mutation SNP G G C TCGA-DQ-7588-01A-11D-2078-08 TCGA-DQ-7588-10B-01D-2078-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 6aad9b01-6a99-4f21-955f-7938af25a188 2805f3b2-5a20-4124-a730-3bb6ea20ffc0 g.chr12:52699102G>C uc010snq.1 + 6 947 c.814G>C c.(814-816)GAC>CAC p.D272H KRT86_uc009zmg.2_Missense_Mutation_p.D272H|KRT81_uc001sac.2_Intron|KRT86_uc001sad.2_Missense_Mutation_p.D272H NM_002284 NP_002275 O43790 KRT86_HUMAN keratin 86 272 Rod.|Coil 2. cytoskeleton organization keratin filament structural molecule activity ovary(1) 1 BRCA - Breast invasive adenocarcinoma(357;0.189) CCTGAACATGGACTGCATCAT 0.592 NA 45 72 0 0 0 0 SMARCC2 6601 broad.mit.edu 37 12 56575309 56575309 + Missense_Mutation SNP G G C TCGA-DQ-7588-01A-11D-2078-08 TCGA-DQ-7588-10B-01D-2078-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 6aad9b01-6a99-4f21-955f-7938af25a188 2805f3b2-5a20-4124-a730-3bb6ea20ffc0 g.chr12:56575309G>C uc001skb.2 - 10 1019 c.913C>G c.(913-915)CCT>GCT p.P305A SMARCC2_uc001skd.2_Missense_Mutation_p.P305A|SMARCC2_uc001ska.2_Missense_Mutation_p.P305A|SMARCC2_uc001skc.2_Missense_Mutation_p.P305A|SMARCC2_uc010sqf.1_Missense_Mutation_p.P194A NM_003075 NP_003066 Q8TAQ2 SMRC2_HUMAN SWI/SNF-related matrix-associated 305 chromatin remodeling|negative regulation of transcription, DNA-dependent|nervous system development|positive regulation of transcription, DNA-dependent|regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent nBAF complex|npBAF complex|nucleoplasm|SWI/SNF complex DNA binding|protein binding|transcription coactivator activity lung(2)|central_nervous_system(2)|ovary(1)|skin(1) 6 OV - Ovarian serous cystadenocarcinoma(18;0.123) GTTGGTGAAGGAGAGGGGGAG 0.507 NA 27 53 0 0 0 0 LRIG3 121227 broad.mit.edu 37 12 59277366 59277366 + Missense_Mutation SNP T T A TCGA-DQ-7588-01A-11D-2078-08 TCGA-DQ-7588-10B-01D-2078-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 6aad9b01-6a99-4f21-955f-7938af25a188 2805f3b2-5a20-4124-a730-3bb6ea20ffc0 g.chr12:59277366T>A uc001sqr.2 - 11 1498 c.1252A>T c.(1252-1254)AGT>TGT p.S418C LRIG3_uc009zqh.2_Missense_Mutation_p.S358C|LRIG3_uc010ssh.1_RNA NM_153377 NP_700356 Q6UXM1 LRIG3_HUMAN leucine-rich repeats and immunoglobulin-like 418 LRR 15. integral to membrane skin(3)|ovary(1) 4 GBM - Glioblastoma multiforme(1;1.17e-18) GCGTTGTCACTCAGGTCTCTG 0.413 NA 19 38 0 0 0 0 LIN7A 8825 broad.mit.edu 37 12 81331433 81331433 + Silent SNP G G C TCGA-DQ-7588-01A-11D-2078-08 TCGA-DQ-7588-10B-01D-2078-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 6aad9b01-6a99-4f21-955f-7938af25a188 2805f3b2-5a20-4124-a730-3bb6ea20ffc0 g.chr12:81331433G>C uc001szj.1 - 1 262 c.69C>G c.(67-69)CTC>CTG p.L23L LIN7A_uc001szk.1_RNA|MIR618_hsa-mir-618|MI0003632_5'Flank NM_004664 NP_004655 O14910 LIN7A_HUMAN lin-7 homolog A 23 Kinase interacting site. exocytosis|protein complex assembly|protein transport basolateral plasma membrane|postsynaptic density|postsynaptic membrane|synaptosome|tight junction L27 domain binding ovary(1)|skin(1) 2 TGTCCAGGGTGAGCGGCTGGA 0.612 NA 7 9 0 0 0 0 MED13L 23389 broad.mit.edu 37 12 116444184 116444184 + Silent SNP A A G TCGA-DQ-7588-01A-11D-2078-08 TCGA-DQ-7588-10B-01D-2078-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 6aad9b01-6a99-4f21-955f-7938af25a188 2805f3b2-5a20-4124-a730-3bb6ea20ffc0 g.chr12:116444184A>G uc001tvw.2 - 12 2326 c.2271T>C c.(2269-2271)ACT>ACC p.T757T NM_015335 NP_056150 Q71F56 MD13L_HUMAN mediator complex subunit 13-like 757 regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent skin(4)|ovary(2)|upper_aerodigestive_tract(1)|lung(1) 8 all_neural(191;0.117)|Medulloblastoma(191;0.163) BRCA - Breast invasive adenocarcinoma(302;0.0407) GACCTGGTGTAGTGACATCCT 0.418 NA 23 46 0 0 0 0 TEP1 7011 broad.mit.edu 37 14 20852263 20852263 + Silent SNP C C T TCGA-DQ-7588-01A-11D-2078-08 TCGA-DQ-7588-10B-01D-2078-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 6aad9b01-6a99-4f21-955f-7938af25a188 2805f3b2-5a20-4124-a730-3bb6ea20ffc0 g.chr14:20852263C>T uc001vxe.2 - 24 3508 c.3468G>A c.(3466-3468)CTG>CTA p.L1156L TEP1_uc010ahk.2_Silent_p.L506L|TEP1_uc010tlf.1_RNA|TEP1_uc010tlg.1_Silent_p.L1048L|TEP1_uc010tlh.1_5'Flank NM_007110 NP_009041 Q99973 TEP1_HUMAN telomerase-associated protein 1 1156 telomere maintenance via recombination chromosome, telomeric region|cytoplasm|nuclear matrix|soluble fraction|telomerase holoenzyme complex ATP binding|RNA binding ovary(5) 5 all_cancers(95;0.00123) all_lung(585;0.235) Epithelial(56;7.42e-08)|all cancers(55;6.46e-07) GBM - Glioblastoma multiforme(265;0.028)|READ - Rectum adenocarcinoma(17;0.233) GGGGCAGCATCAGCCGTTGCA 0.647 NA 36 42 0 0 0 0 JUB 84962 broad.mit.edu 37 14 23444271 23444271 + Nonsense_Mutation SNP G G A TCGA-DQ-7588-01A-11D-2078-08 TCGA-DQ-7588-10B-01D-2078-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 6aad9b01-6a99-4f21-955f-7938af25a188 2805f3b2-5a20-4124-a730-3bb6ea20ffc0 g.chr14:23444271G>A uc001whz.2 - 5 1658 c.1282C>T c.(1282-1284)CGA>TGA p.R428* JUB_uc001why.2_Nonsense_Mutation_p.R11* NM_032876 NP_116265 Q96IF1 JUB_HUMAN ajuba isoform 1 428 LIM zinc-binding 2. cell cycle|gene silencing by miRNA|positive regulation of protein complex assembly cell-cell junction|cytoplasmic mRNA processing body|microtubule organizing center alpha-catenin binding|zinc ion binding 0 all_cancers(95;4.6e-05) GBM - Glioblastoma multiforme(265;0.0122) ACAATGCATCGGAAACAGCCT 0.532 NA 52 20 0 0 0 0 SYNE2 23224 broad.mit.edu 37 14 64519707 64519707 + Missense_Mutation SNP G G C TCGA-DQ-7588-01A-11D-2078-08 TCGA-DQ-7588-10B-01D-2078-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 6aad9b01-6a99-4f21-955f-7938af25a188 2805f3b2-5a20-4124-a730-3bb6ea20ffc0 g.chr14:64519707G>C uc001xgm.2 + 48 9306 c.9076G>C c.(9076-9078)GAA>CAA p.E3026Q SYNE2_uc001xgl.2_Missense_Mutation_p.E3026Q|SYNE2_uc010apw.1_5'Flank NM_015180 NP_055995 Q8WXH0 SYNE2_HUMAN spectrin repeat containing, nuclear envelope 2 3026 Potential.|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) CCAAGTATTTGAAAAAGAAAA 0.318 NA 25 37 0 0 0 0 SYNE2 23224 broad.mit.edu 37 14 64519931 64519931 + Missense_Mutation SNP G G C TCGA-DQ-7588-01A-11D-2078-08 TCGA-DQ-7588-10B-01D-2078-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 6aad9b01-6a99-4f21-955f-7938af25a188 2805f3b2-5a20-4124-a730-3bb6ea20ffc0 g.chr14:64519931G>C uc001xgm.2 + 48 9530 c.9300G>C c.(9298-9300)GAG>GAC p.E3100D SYNE2_uc001xgl.2_Missense_Mutation_p.E3100D|SYNE2_uc010apw.1_5'Flank NM_015180 NP_055995 Q8WXH0 SYNE2_HUMAN spectrin repeat containing, nuclear envelope 2 3100 Potential.|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) TATGTGATGAGATAATAAAGA 0.333 NA 19 30 0 0 0 0 MGA 23269 broad.mit.edu 37 15 41961802 41961802 + Missense_Mutation SNP C C T TCGA-DQ-7588-01A-11D-2078-08 TCGA-DQ-7588-10B-01D-2078-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 6aad9b01-6a99-4f21-955f-7938af25a188 2805f3b2-5a20-4124-a730-3bb6ea20ffc0 g.chr15:41961802C>T uc001zog.1 + 2 801 c.710C>T c.(709-711)ACA>ATA p.T237I MGA_uc010ucy.1_Missense_Mutation_p.T237I|MGA_uc010ucz.1_Missense_Mutation_p.T237I NM_001080541 NP_001074010 Q8IWI9 MGAP_HUMAN MAX-interacting protein isoform 2 237 T-box. MLL1 complex DNA binding|sequence-specific DNA binding transcription factor activity ovary(6)|kidney(3)|upper_aerodigestive_tract(1)|haematopoietic_and_lymphoid_tissue(1)|skin(1) 12 all_cancers(109;0.00356)|all_epithelial(112;0.0413)|all_lung(180;0.18)|Ovarian(310;0.238) OV - Ovarian serous cystadenocarcinoma(18;1.41e-18)|GBM - Glioblastoma multiforme(113;2.15e-06)|COAD - Colon adenocarcinoma(120;0.031)|Lung(196;0.0721)|BRCA - Breast invasive adenocarcinoma(123;0.0964)|Colorectal(105;0.0998)|LUSC - Lung squamous cell carcinoma(244;0.235) TTTGCAGTAACAGCTTATCAG 0.428 NA 15 19 0 0 0 0 USP8 9101 broad.mit.edu 37 15 50733619 50733619 + Missense_Mutation SNP T T G TCGA-DQ-7588-01A-11D-2078-08 TCGA-DQ-7588-10B-01D-2078-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 6aad9b01-6a99-4f21-955f-7938af25a188 2805f3b2-5a20-4124-a730-3bb6ea20ffc0 g.chr15:50733619T>G uc001zym.3 + 4 678 c.178T>G c.(178-180)TAT>GAT p.Y60D USP8_uc001zyk.1_5'UTR|USP8_uc001zyl.3_Missense_Mutation_p.Y60D|USP8_uc001zyn.3_Missense_Mutation_p.Y60D|USP8_uc010ufh.1_Intron|USP8_uc010bev.1_5'UTR NM_001128611 NP_001122083 P40818 UBP8_HUMAN ubiquitin specific peptidase 8 60 MIT. cell cycle|cell proliferation|endosome organization|protein K48-linked deubiquitination|protein K63-linked deubiquitination|ubiquitin-dependent protein catabolic process cytosol|early endosome|extrinsic to plasma membrane|nucleus cysteine-type endopeptidase activity|SH3 domain binding|ubiquitin thiolesterase activity|ubiquitin-specific protease activity lung(1)|central_nervous_system(1) 2 all cancers(107;0.000225)|GBM - Glioblastoma multiforme(94;0.000771) GGAAAGGGCCTATGTACTATA 0.323 NA 12 23 0 0 0 0 NR2F2 7026 broad.mit.edu 37 15 96875682 96875682 + Silent SNP C C A TCGA-DQ-7588-01A-11D-2078-08 TCGA-DQ-7588-10B-01D-2078-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 6aad9b01-6a99-4f21-955f-7938af25a188 2805f3b2-5a20-4124-a730-3bb6ea20ffc0 g.chr15:96875682C>A uc010uri.1 + 1 1572 c.348C>A c.(346-348)CGC>CGA p.R116R NR2F2_uc002btp.2_Intron|NR2F2_uc010urj.1_5'Flank|MIR1469_hsa-mir-1469|MI0007074_5'Flank|NR2F2_uc010urk.1_5'Flank NM_021005 NP_066285 P24468 COT2_HUMAN nuclear receptor subfamily 2, group F, member 2 116 NR C4-type.|Nuclear receptor. lipid metabolic process|negative regulation of cyclin-dependent protein kinase activity|negative regulation of endothelial cell migration|negative regulation of endothelial cell proliferation|negative regulation of transcription from RNA polymerase II promoter|positive regulation of transcription, DNA-dependent|regulation of transcription involved in lymphatic endothelial cell fate commitment nucleus ligand-regulated transcription factor activity|protein homodimerization activity|retinoic acid binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|steroid hormone receptor activity|transcription corepressor activity|zinc ion binding ovary(2)|breast(1) 3 Lung NSC(78;0.0186)|Melanoma(26;0.0195)|all_lung(78;0.0297) OV - Ovarian serous cystadenocarcinoma(32;0.0856) ACACGTGCCGCGCCAACCGGA 0.602 NA 18 23 1.34e-09 1.49e-09 1 0 SPNS1 83985 broad.mit.edu 37 16 28992919 28992919 + Silent SNP G G A TCGA-DQ-7588-01A-11D-2078-08 TCGA-DQ-7588-10B-01D-2078-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 6aad9b01-6a99-4f21-955f-7938af25a188 2805f3b2-5a20-4124-a730-3bb6ea20ffc0 g.chr16:28992919G>A uc010vdi.1 + 7 932 c.792G>A c.(790-792)CTG>CTA p.L264L uc010vct.1_Intron|SPNS1_uc002drx.2_Silent_p.L191L|SPNS1_uc002dsa.2_Silent_p.L264L|SPNS1_uc002drz.2_Silent_p.L264L|SPNS1_uc010byp.2_Silent_p.L242L|SPNS1_uc010byq.1_Silent_p.L196L NM_001142448 NP_001135920 Q9H2V7 SPNS1_HUMAN spinster homolog 1 isoform 1 264 lipid transport|transmembrane transport integral to membrane|mitochondrial inner membrane protein binding 0 GGGCAGATCTGAGGGCTCTGG 0.592 NA OREG0023712 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 31 54 0 0 0 0 RNF40 9810 broad.mit.edu 37 16 30780713 30780713 + Silent SNP G G A TCGA-DQ-7588-01A-11D-2078-08 TCGA-DQ-7588-10B-01D-2078-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 6aad9b01-6a99-4f21-955f-7938af25a188 2805f3b2-5a20-4124-a730-3bb6ea20ffc0 g.chr16:30780713G>A uc002dzq.2 + 16 2577 c.2454G>A c.(2452-2454)AAG>AAA p.K818K RNF40_uc010caa.2_Silent_p.K818K|RNF40_uc010cab.2_Silent_p.K718K|RNF40_uc010vfa.1_Silent_p.K150K|RNF40_uc002dzr.2_Silent_p.K818K|RNF40_uc010vfb.1_Silent_p.K510K|RNF40_uc010vfc.1_Silent_p.K150K NM_014771 NP_055586 O75150 BRE1B_HUMAN ring finger protein 40 818 Potential. histone H2B ubiquitination|histone monoubiquitination|ubiquitin-dependent protein catabolic process nucleus|synaptosome|ubiquitin ligase complex protein homodimerization activity|ubiquitin protein ligase binding|zinc ion binding central_nervous_system(1) 1 Colorectal(24;0.198) TTGGCCTCAAGTCCCAGGTAT 0.597 NA 23 42 0 0 0 0 NUP93 9688 broad.mit.edu 37 16 56878497 56878497 + Silent SNP G G A TCGA-DQ-7588-01A-11D-2078-08 TCGA-DQ-7588-10B-01D-2078-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 6aad9b01-6a99-4f21-955f-7938af25a188 2805f3b2-5a20-4124-a730-3bb6ea20ffc0 g.chr16:56878497G>A uc002eka.2 + 22 2557 c.2436G>A c.(2434-2436)GTG>GTA p.V812V NUP93_uc002ekb.2_Silent_p.V689V|NUP93_uc010vhi.1_Silent_p.V689V NM_014669 NP_055484 Q8N1F7 NUP93_HUMAN nucleoporin 93kDa 812 carbohydrate metabolic process|glucose transport|mRNA transport|protein transport|regulation of glucose transport|transmembrane transport|viral reproduction nuclear pore protein binding ovary(1)|lung(1) 2 CGAGGCTGGTGCAGATGGAGG 0.537 NA 22 42 0 0 0 0 GLG1 2734 broad.mit.edu 37 16 74499652 74499652 + Silent SNP T T C TCGA-DQ-7588-01A-11D-2078-08 TCGA-DQ-7588-10B-01D-2078-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 6aad9b01-6a99-4f21-955f-7938af25a188 2805f3b2-5a20-4124-a730-3bb6ea20ffc0 g.chr16:74499652T>C uc002fcy.3 - 19 2639 c.2589A>G c.(2587-2589)GTA>GTG p.V863V GLG1_uc002fcx.2_Silent_p.V863V|GLG1_uc002fcw.3_Silent_p.V852V|GLG1_uc002fcz.3_Silent_p.V280V NM_001145667 NP_001139139 Q92896 GSLG1_HUMAN golgi apparatus protein 1 isoform 3 863 Cys-rich GLG1 13.|Extracellular (Potential). Golgi membrane|integral to membrane receptor binding ovary(1)|breast(1) 2 GCAGCTTAAATACTTTTTGGT 0.458 NA 65 194 0 0 0 0 ABR 29 broad.mit.edu 37 17 1028566 1028566 + Silent SNP G G A rs143549153 byFrequency TCGA-DQ-7588-01A-11D-2078-08 TCGA-DQ-7588-10B-01D-2078-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 6aad9b01-6a99-4f21-955f-7938af25a188 2805f3b2-5a20-4124-a730-3bb6ea20ffc0 g.chr17:1028566G>A uc002fsd.2 - 2 308 c.198C>T c.(196-198)GGC>GGT p.G66G ABR_uc002fse.2_Silent_p.G20G|ABR_uc010cjq.1_Silent_p.G78G NM_021962 NP_068781 Q12979 ABR_HUMAN active breakpoint cluster region-related 66 apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction cytosol GTPase activator activity|protein binding|Rho guanyl-nucleotide exchange factor activity upper_aerodigestive_tract(1) 1 UCEC - Uterine corpus endometrioid carcinoma (25;0.0228) CATCCCCCCCGCCCTGGCTGC 0.672 NA 44 49 0 0 0 0 MYH1 4619 broad.mit.edu 37 17 10401226 10401226 + Missense_Mutation SNP A A T TCGA-DQ-7588-01A-11D-2078-08 TCGA-DQ-7588-10B-01D-2078-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 6aad9b01-6a99-4f21-955f-7938af25a188 2805f3b2-5a20-4124-a730-3bb6ea20ffc0 g.chr17:10401226A>T uc002gmo.2 - 31 4284 c.4190T>A c.(4189-4191)CTG>CAG p.L1397Q uc002gml.1_Intron NM_005963 NP_005954 P12882 MYH1_HUMAN myosin, heavy chain 1, skeletal muscle, adult 1397 Potential. muscle myosin complex|myofibril|myosin filament actin binding|ATP binding|calmodulin binding|motor activity ovary(10)|skin(6)|breast(3)|upper_aerodigestive_tract(1)|kidney(1) 21 ACGCTGAGCCAGCTTCTTCCT 0.453 NA 5 30 0 0 0 0 AKAP10 11216 broad.mit.edu 37 17 19843030 19843030 + Missense_Mutation SNP C C T TCGA-DQ-7588-01A-11D-2078-08 TCGA-DQ-7588-10B-01D-2078-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 6aad9b01-6a99-4f21-955f-7938af25a188 2805f3b2-5a20-4124-a730-3bb6ea20ffc0 g.chr17:19843030C>T uc002gwo.2 - 8 1455 c.1318G>A c.(1318-1320)GAC>AAC p.D440N AKAP10_uc002gwp.1_Missense_Mutation_p.D440N|AKAP10_uc010cqw.1_Missense_Mutation_p.D440N NM_007202 NP_009133 O43572 AKA10_HUMAN A-kinase anchor protein 10 precursor 440 RGS 2. blood coagulation|protein localization cytosol|mitochondrion|plasma membrane signal transducer activity skin(1) 1 all_cancers(12;2.08e-05)|all_epithelial(12;0.00158)|Breast(13;0.165) ACTCACTTGTCATATAAAATC 0.264 NA 15 39 0 0 0 0 CACNG1 786 broad.mit.edu 37 17 65050172 65050172 + Missense_Mutation SNP T T A TCGA-DQ-7588-01A-11D-2078-08 TCGA-DQ-7588-10B-01D-2078-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 6aad9b01-6a99-4f21-955f-7938af25a188 2805f3b2-5a20-4124-a730-3bb6ea20ffc0 g.chr17:65050172T>A uc002jfu.2 + 2 361 c.290T>A c.(289-291)TTC>TAC p.F97Y NM_000727 NP_000718 Q06432 CCG1_HUMAN voltage-dependent calcium channel gamma-1 97 muscle contraction voltage-gated calcium channel complex voltage-gated calcium channel activity 0 all_cancers(12;1.04e-10)|Breast(2;1.45e-16)|all_epithelial(3;4.81e-12) Amlodipine(DB00381)|Diltiazem(DB00343)|Ibutilide(DB00308)|Lercanidipine(DB00528)|Magnesium Sulfate(DB00653)|Nimodipine(DB00393)|Nitrendipine(DB01054)|Verapamil(DB00661) ATCTTCGAATTCACCACTCAG 0.537 NA 29 40 0 0 0 0 ABCA9 10350 broad.mit.edu 37 17 67045471 67045471 + Missense_Mutation SNP G G C TCGA-DQ-7588-01A-11D-2078-08 TCGA-DQ-7588-10B-01D-2078-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 6aad9b01-6a99-4f21-955f-7938af25a188 2805f3b2-5a20-4124-a730-3bb6ea20ffc0 g.chr17:67045471G>C uc002jhu.2 - 3 400 c.257C>G c.(256-258)ACT>AGT p.T86S ABCA9_uc010dez.2_Missense_Mutation_p.T86S|ABCA9_uc002jhv.2_Missense_Mutation_p.T86S NM_080283 NP_525022 Q8IUA7 ABCA9_HUMAN ATP-binding cassette, sub-family A, member 9 86 transport integral to membrane ATP binding|ATPase activity ovary(4)|upper_aerodigestive_tract(1)|central_nervous_system(1) 6 Breast(10;1.47e-12) CTCTTGGGTAGTTTTGGATTC 0.368 NA 31 50 0 0 0 0 TTYH2 94015 broad.mit.edu 37 17 72209806 72209806 + Missense_Mutation SNP T T C TCGA-DQ-7588-01A-11D-2078-08 TCGA-DQ-7588-10B-01D-2078-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 6aad9b01-6a99-4f21-955f-7938af25a188 2805f3b2-5a20-4124-a730-3bb6ea20ffc0 g.chr17:72209806T>C uc002jkc.2 + 1 111 c.80T>C c.(79-81)CTG>CCG p.L27P TTYH2_uc010wqw.1_5'Flank|MGC16275_uc002jkb.2_5'Flank NM_032646 NP_116035 Q9BSA4 TTYH2_HUMAN tweety 2 isoform 1 27 Extracellular (Potential). chloride channel complex|plasma membrane chloride channel activity|protein binding ovary(3)|large_intestine(1) 4 GGCCTGCGCCTGCAGCCCGTG 0.701 NA 16 16 0 0 0 0 QRICH2 84074 broad.mit.edu 37 17 74273270 74273270 + Missense_Mutation SNP T T C TCGA-DQ-7588-01A-11D-2078-08 TCGA-DQ-7588-10B-01D-2078-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 6aad9b01-6a99-4f21-955f-7938af25a188 2805f3b2-5a20-4124-a730-3bb6ea20ffc0 g.chr17:74273270T>C uc002jrd.1 - 16 4921 c.4741A>G c.(4741-4743)ACT>GCT p.T1581A QRICH2_uc010wsz.1_Intron|QRICH2_uc010dgw.1_Missense_Mutation_p.T425A NM_032134 NP_115510 Q9H0J4 QRIC2_HUMAN glutamine rich 2 1581 protein binding ovary(1)|pancreas(1)|lung(1)|central_nervous_system(1)|skin(1) 5 ATCTCTTCAGTAGGATACAGG 0.637 NA 27 50 0 0 0 0 TNRC6C 57690 broad.mit.edu 37 17 76094475 76094475 + Missense_Mutation SNP C C A TCGA-DQ-7588-01A-11D-2078-08 TCGA-DQ-7588-10B-01D-2078-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 6aad9b01-6a99-4f21-955f-7938af25a188 2805f3b2-5a20-4124-a730-3bb6ea20ffc0 g.chr17:76094475C>A uc002jud.2 + 18 4958 c.4358C>A c.(4357-4359)ACG>AAG p.T1453K TNRC6C_uc002juf.2_Missense_Mutation_p.T1489K NM_018996 NP_061869 Q9HCJ0 TNR6C_HUMAN trinucleotide repeat containing 6C isoform 2 1453 Sufficient for translational repression when tethered to a target mRNA. gene silencing by RNA|regulation of translation nucleotide binding|RNA binding ovary(1)|central_nervous_system(1) 2 BRCA - Breast invasive adenocarcinoma(99;0.00269)|Lung(188;0.0973) ACCTCCCACACGCAAGCCTCT 0.527 NA 11 21 4.69e-08 5.13e-08 1 0 STARD6 147323 broad.mit.edu 37 18 51851189 51851189 + Nonsense_Mutation SNP A A T TCGA-DQ-7588-01A-11D-2078-08 TCGA-DQ-7588-10B-01D-2078-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 6aad9b01-6a99-4f21-955f-7938af25a188 2805f3b2-5a20-4124-a730-3bb6ea20ffc0 g.chr18:51851189A>T uc010xdt.1 - 6 536 c.536T>A c.(535-537)TTG>TAG p.L179* NM_139171 NP_631910 P59095 STAR6_HUMAN START domain containing protein 6 179 START. lipid transport lipid binding ovary(1) 1 Colorectal(16;0.021)|READ - Rectum adenocarcinoma(59;0.188) TGATGGGGACAATTTTCCTCT 0.348 NA 19 32 0 0 0 0 ZNF558 148156 broad.mit.edu 37 19 8932738 8932738 + Missense_Mutation SNP G G T TCGA-DQ-7588-01A-11D-2078-08 TCGA-DQ-7588-10B-01D-2078-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 6aad9b01-6a99-4f21-955f-7938af25a188 2805f3b2-5a20-4124-a730-3bb6ea20ffc0 g.chr19:8932738G>T uc002mkn.1 - 2 291 c.61C>A c.(61-63)CAA>AAA p.Q21K ZNF558_uc010xkh.1_5'Flank|ZNF558_uc010dwg.1_Missense_Mutation_p.Q21K NM_144693 NP_653294 Q96NG5 ZN558_HUMAN zinc finger protein 558 21 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|protein binding|zinc ion binding central_nervous_system(1) 1 TGTCCTTTTTGCTGAGAGGCT 0.522 NA 3 70 0.00024832 0.000258733 1 0 DNMT1 1786 broad.mit.edu 37 19 10249209 10249209 + Missense_Mutation SNP G G A TCGA-DQ-7588-01A-11D-2078-08 TCGA-DQ-7588-10B-01D-2078-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 6aad9b01-6a99-4f21-955f-7938af25a188 2805f3b2-5a20-4124-a730-3bb6ea20ffc0 g.chr19:10249209G>A uc002mng.2 - 34 4153 c.3973C>T c.(3973-3975)CCT>TCT p.P1325S DNMT1_uc002mne.2_RNA|DNMT1_uc002mnf.2_Missense_Mutation_p.P249S|DNMT1_uc010xlc.1_Missense_Mutation_p.P1341S|DNMT1_uc002mnh.2_Missense_Mutation_p.P1220S|DNMT1_uc010xld.1_Missense_Mutation_p.P1325S NM_001379 NP_001370 P26358 DNMT1_HUMAN DNA (cytosine-5-)-methyltransferase 1 isoform b 1325 Catalytic.|Interaction with the PRC2/EED-EZH2 complex (By similarity). chromatin modification|maintenance of DNA methylation|negative regulation of histone H3-K9 methylation|negative regulation of transcription from RNA polymerase II promoter|positive regulation of gene expression|positive regulation of histone H3-K4 methylation|transcription, DNA-dependent nucleus DNA (cytosine-5-)-methyltransferase activity|DNA binding|transcription factor binding ovary(2)|prostate(1)|lung(1)|breast(1)|skin(1) 6 OV - Ovarian serous cystadenocarcinoma(20;1.59e-09)|Epithelial(33;2.86e-06)|all cancers(31;6.68e-06) Azacitidine(DB00928)|Decitabine(DB01262)|Flucytosine(DB01099)|Ifosfamide(DB01181)|Procainamide(DB01035) GGGAACAGAGGGAGCTTCTCT 0.637 NA 10 39 0 0 0 0 KEAP1 9817 broad.mit.edu 37 19 10600446 10600446 + Missense_Mutation SNP C C T TCGA-DQ-7588-01A-11D-2078-08 TCGA-DQ-7588-10B-01D-2078-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 6aad9b01-6a99-4f21-955f-7938af25a188 2805f3b2-5a20-4124-a730-3bb6ea20ffc0 g.chr19:10600446C>T uc002moq.1 - 4 1565 c.1409G>A c.(1408-1410)CGT>CAT p.R470H KEAP1_uc002mop.1_Missense_Mutation_p.R188H|KEAP1_uc002mor.1_Missense_Mutation_p.R470H NM_012289 NP_036421 Q14145 KEAP1_HUMAN kelch-like ECH-associated protein 1 470 Kelch 3. regulation of transcription, DNA-dependent|transcription, DNA-dependent centrosome|midbody|nucleus protein binding lung(12)|breast(3)|ovary(1)|pancreas(1) 17 OV - Ovarian serous cystadenocarcinoma(20;2.71e-09)|Epithelial(33;2.32e-06)|all cancers(31;1.42e-05) ATAAAGGAGACGATTGAGGAC 0.562 NA 15 20 0 0 0 0 LPPR2 64748 broad.mit.edu 37 19 11470232 11470232 + Silent SNP C C T TCGA-DQ-7588-01A-11D-2078-08 TCGA-DQ-7588-10B-01D-2078-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 6aad9b01-6a99-4f21-955f-7938af25a188 2805f3b2-5a20-4124-a730-3bb6ea20ffc0 g.chr19:11470232C>T uc002mre.1 + 4 428 c.91C>T c.(91-93)CTG>TTG p.L31L LPPR2_uc002mrf.1_Intron|LPPR2_uc010dxy.1_5'Flank NM_022737 NP_073574 Q96GM1 LPPR2_HUMAN lipid phosphate phosphatase-related protein type 31 Helical; (Potential). integral to membrane phosphatidate phosphatase activity large_intestine(1) 1 CATTGTGATCCTGCTTGCTTA 0.597 NA 14 20 0 0 0 0 ZNF101 94039 broad.mit.edu 37 19 19790752 19790752 + Silent SNP C C G TCGA-DQ-7588-01A-11D-2078-08 TCGA-DQ-7588-10B-01D-2078-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 6aad9b01-6a99-4f21-955f-7938af25a188 2805f3b2-5a20-4124-a730-3bb6ea20ffc0 g.chr19:19790752C>G uc002nni.1 + 4 1064 c.954C>G c.(952-954)GTC>GTG p.V318V ZNF101_uc010ecg.1_Silent_p.V198V|ZNF101_uc002nnj.1_Silent_p.V198V NM_033204 NP_149981 Q8IZC7 ZN101_HUMAN zinc finger protein 101 318 C2H2-type 7. regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding ovary(2) 2 GTGCCAAAGTCTTTAGATGTC 0.398 NA 23 21 0 0 0 0 ZNF708 7562 broad.mit.edu 37 19 21477105 21477105 + Silent SNP C C T TCGA-DQ-7588-01A-11D-2078-08 TCGA-DQ-7588-10B-01D-2078-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 6aad9b01-6a99-4f21-955f-7938af25a188 2805f3b2-5a20-4124-a730-3bb6ea20ffc0 g.chr19:21477105C>T uc002npq.1 - 4 861 c.663G>A c.(661-663)GAG>GAA p.E221E ZNF708_uc002npr.1_Silent_p.E157E|ZNF708_uc010ecs.1_Silent_p.E157E NM_021269 NP_067092 P17019 ZN708_HUMAN zinc finger protein 708 221 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding central_nervous_system(4)|skin(2) 6 TGTAGGGTTTCTCTCCAGTAT 0.343 NA 5 26 0 0 0 0 ZNF99 7652 broad.mit.edu 37 19 22941528 22941528 + Missense_Mutation SNP T T G TCGA-DQ-7588-01A-11D-2078-08 TCGA-DQ-7588-10B-01D-2078-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 6aad9b01-6a99-4f21-955f-7938af25a188 2805f3b2-5a20-4124-a730-3bb6ea20ffc0 g.chr19:22941528T>G uc010xrh.1 - 5 910 c.910A>C c.(910-912)AAA>CAA p.K304Q NM_001080409 NP_001073878 zinc finger protein 99 ovary(1)|skin(1) 2 Lung NSC(12;0.0207)|all_lung(12;0.0214)|all_epithelial(12;0.102) TTGTAGGGTTTCTGTCCAGTA 0.363 NA 8 45 0 0 0 0 PPP1R15A 23645 broad.mit.edu 37 19 49379062 49379062 + Silent SNP C C G TCGA-DQ-7588-01A-11D-2078-08 TCGA-DQ-7588-10B-01D-2078-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 6aad9b01-6a99-4f21-955f-7938af25a188 2805f3b2-5a20-4124-a730-3bb6ea20ffc0 g.chr19:49379062C>G uc002pky.3 + 3 2126 c.1857C>G c.(1855-1857)CTC>CTG p.L619L NM_014330 NP_055145 O75807 PR15A_HUMAN protein phosphatase 1, regulatory subunit 15A 619 apoptosis|cell cycle arrest|regulation of translation|response to DNA damage stimulus endoplasmic reticulum protein binding lung(1) 1 all_epithelial(76;5.29e-07)|all_lung(116;1.7e-06)|Lung NSC(112;3.55e-06)|all_neural(266;0.0189)|Ovarian(192;0.0261) OV - Ovarian serous cystadenocarcinoma(262;0.000244)|all cancers(93;0.000694)|GBM - Glioblastoma multiforme(486;0.0222)|Epithelial(262;0.033) GGGCACGCCTCAGGAACCCAC 0.687 NA 107 132 0 0 0 0 ZNF347 84671 broad.mit.edu 37 19 53644812 53644812 + Silent SNP G G A TCGA-DQ-7588-01A-11D-2078-08 TCGA-DQ-7588-10B-01D-2078-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 6aad9b01-6a99-4f21-955f-7938af25a188 2805f3b2-5a20-4124-a730-3bb6ea20ffc0 g.chr19:53644812G>A uc002qbb.1 - 5 1338 c.1269C>T c.(1267-1269)CAC>CAT p.H423H ZNF347_uc010eql.1_Silent_p.H424H|ZNF347_uc002qbc.1_Silent_p.H424H NM_032584 NP_115973 Q96SE7 ZN347_HUMAN zinc finger protein 347 423 C2H2-type 6. regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding 0 GBM - Glioblastoma multiforme(134;0.0179) TCTCTCCAGTGTGAATTCTCC 0.428 NA 46 57 0 0 0 0 LILRA3 11026 broad.mit.edu 37 19 54802685 54802685 + Silent SNP G G A TCGA-DQ-7588-01A-11D-2078-08 TCGA-DQ-7588-10B-01D-2078-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 6aad9b01-6a99-4f21-955f-7938af25a188 2805f3b2-5a20-4124-a730-3bb6ea20ffc0 g.chr19:54802685G>A uc002qfd.2 - 5 821 c.756C>T c.(754-756)TAC>TAT p.Y252Y LILRA6_uc002qew.1_Intron|LILRA3_uc010erk.2_Silent_p.Y188Y NM_006865 NP_006856 Q8N6C8 LIRA3_HUMAN leukocyte immunoglobulin-like receptor, 252 Ig-like C2-type 3. defense response extracellular region|plasma membrane antigen binding|receptor activity ovary(1) 1 Ovarian(34;0.19) GBM - Glioblastoma multiforme(193;0.105) CAAATCTGTCGTAGCCGGCAT 0.627 NA 5 49 0 0 0 0 LILRA3 11026 broad.mit.edu 37 19 54802692 54802692 + Missense_Mutation SNP G G A TCGA-DQ-7588-01A-11D-2078-08 TCGA-DQ-7588-10B-01D-2078-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 6aad9b01-6a99-4f21-955f-7938af25a188 2805f3b2-5a20-4124-a730-3bb6ea20ffc0 g.chr19:54802692G>A uc002qfd.2 - 5 814 c.749C>T c.(748-750)GCC>GTC p.A250V LILRA6_uc002qew.1_Intron|LILRA3_uc010erk.2_Missense_Mutation_p.A186V NM_006865 NP_006856 Q8N6C8 LIRA3_HUMAN leukocyte immunoglobulin-like receptor, 250 Ig-like C2-type 3. A -> T (in Ref. 4; AAM18037). defense response extracellular region|plasma membrane antigen binding|receptor activity ovary(1) 1 Ovarian(34;0.19) GBM - Glioblastoma multiforme(193;0.105) GTCGTAGCCGGCATCAGAGCC 0.612 NA 4 51 0 0 0 0 NRBP1 29959 broad.mit.edu 37 2 27662654 27662654 + Nonsense_Mutation SNP C C T TCGA-DQ-7588-01A-11D-2078-08 TCGA-DQ-7588-10B-01D-2078-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 6aad9b01-6a99-4f21-955f-7938af25a188 2805f3b2-5a20-4124-a730-3bb6ea20ffc0 g.chr2:27662654C>T uc002rko.2 + 12 1757 c.925C>T c.(925-927)CAG>TAG p.Q309* NRBP1_uc002rkq.2_Nonsense_Mutation_p.Q308*|NRBP1_uc002rkp.2_Nonsense_Mutation_p.Q309*|NRBP1_uc002rkr.2_Nonsense_Mutation_p.Q100*|KRTCAP3_uc002rks.2_5'Flank|KRTCAP3_uc010ylr.1_5'Flank|KRTCAP3_uc002rkt.2_5'Flank NM_013392 NP_037524 Q9UHY1 NRBP_HUMAN nuclear receptor binding protein 309 Protein kinase. ER to Golgi vesicle-mediated transport|gene expression|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor cell cortex|endomembrane system|lamellipodium|membrane|nucleoplasm ATP binding|protein homodimerization activity|protein kinase activity ovary(2)|lung(1) 3 Acute lymphoblastic leukemia(172;0.155) AAAGTGCCTGCAGTCTGAGCC 0.458 NA 18 133 0 0 0 0 ABCG8 64241 broad.mit.edu 37 2 44104782 44104782 + Nonsense_Mutation SNP T T A rs147582834 byFrequency TCGA-DQ-7588-01A-11D-2078-08 TCGA-DQ-7588-10B-01D-2078-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 6aad9b01-6a99-4f21-955f-7938af25a188 2805f3b2-5a20-4124-a730-3bb6ea20ffc0 g.chr2:44104782T>A uc002rtq.2 + 12 1929 c.1839T>A c.(1837-1839)TAT>TAA p.Y613* ABCG8_uc010yoa.1_Nonsense_Mutation_p.Y612* NM_022437 NP_071882 Q9H221 ABCG8_HUMAN ATP-binding cassette sub-family G member 8 613 ABC transmembrane type-2.|Extracellular (Potential). cholesterol efflux|cholesterol homeostasis|excretion|lipid metabolic process|negative regulation of intestinal cholesterol absorption|negative regulation of intestinal phytosterol absorption apical plasma membrane|integral to membrane ATP binding|ATPase activity|protein heterodimerization activity skin(3)|ovary(1) 4 all_hematologic(82;0.151)|Acute lymphoblastic leukemia(82;0.175) GAAGAACTTATAAAATGCCTC 0.522 NA OREG0014582 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 39 33 0 0 0 0 ABCG8 64241 broad.mit.edu 37 2 44104784 44104784 + Missense_Mutation SNP A A T TCGA-DQ-7588-01A-11D-2078-08 TCGA-DQ-7588-10B-01D-2078-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 6aad9b01-6a99-4f21-955f-7938af25a188 2805f3b2-5a20-4124-a730-3bb6ea20ffc0 g.chr2:44104784A>T uc002rtq.2 + 12 1931 c.1841A>T c.(1840-1842)AAA>ATA p.K614I ABCG8_uc010yoa.1_Missense_Mutation_p.K613I NM_022437 NP_071882 Q9H221 ABCG8_HUMAN ATP-binding cassette sub-family G member 8 614 ABC transmembrane type-2.|Extracellular (Potential). cholesterol efflux|cholesterol homeostasis|excretion|lipid metabolic process|negative regulation of intestinal cholesterol absorption|negative regulation of intestinal phytosterol absorption apical plasma membrane|integral to membrane ATP binding|ATPase activity|protein heterodimerization activity skin(3)|ovary(1) 4 all_hematologic(82;0.151)|Acute lymphoblastic leukemia(82;0.175) AGAACTTATAAAATGCCTCTC 0.517 NA OREG0014582 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 40 32 0 0 0 0 EGR4 1961 broad.mit.edu 37 2 73518918 73518918 + Silent SNP G G A TCGA-DQ-7588-01A-11D-2078-08 TCGA-DQ-7588-10B-01D-2078-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 6aad9b01-6a99-4f21-955f-7938af25a188 2805f3b2-5a20-4124-a730-3bb6ea20ffc0 g.chr2:73518918G>A uc010yrj.1 - 2 1512 c.1437C>T c.(1435-1437)CAC>CAT p.H479H EGR4_uc010yrk.1_Silent_p.H478H NM_001965 NP_001956 Q05215 EGR4_HUMAN early growth response 4 375 intracellular nucleic acid binding|zinc ion binding 0 AGGCCTTGGCGTGCGGCCGCG 0.716 NA 5 14 0 0 0 0 THSD7B 80731 broad.mit.edu 37 2 137814025 137814025 + Missense_Mutation SNP G G A TCGA-DQ-7588-01A-11D-2078-08 TCGA-DQ-7588-10B-01D-2078-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 6aad9b01-6a99-4f21-955f-7938af25a188 2805f3b2-5a20-4124-a730-3bb6ea20ffc0 g.chr2:137814025G>A uc002tva.1 + 2 82 c.82G>A c.(82-84)GGA>AGA p.G28R THSD7B_uc010zbj.1_RNA|THSD7B_uc002tvb.2_5'UTR NM_001080427 NP_001073896 thrombospondin, type I, domain containing 7B ovary(4)|central_nervous_system(2)|pancreas(1) 7 BRCA - Breast invasive adenocarcinoma(221;0.19) CTGTGGTCCCGGAGGAGTCCA 0.493 NA 16 30 0 0 0 0 RIF1 55183 broad.mit.edu 37 2 152311418 152311418 + Missense_Mutation SNP G G A TCGA-DQ-7588-01A-11D-2078-08 TCGA-DQ-7588-10B-01D-2078-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 6aad9b01-6a99-4f21-955f-7938af25a188 2805f3b2-5a20-4124-a730-3bb6ea20ffc0 g.chr2:152311418G>A uc002txm.2 + 22 2484 c.2354G>A c.(2353-2355)AGA>AAA p.R785K RIF1_uc002txl.2_Missense_Mutation_p.R785K|RIF1_uc010fnv.1_Missense_Mutation_p.R749K|RIF1_uc002txn.2_Missense_Mutation_p.R785K|RIF1_uc002txo.2_Missense_Mutation_p.R785K NM_018151 NP_060621 Q5UIP0 RIF1_HUMAN RAP1 interacting factor 1 785 cell cycle|response to DNA damage stimulus chromosome, telomeric region|cytoplasm|nucleus|spindle binding ovary(5)|breast(4)|skin(3)|lung(2)|kidney(1) 15 BRCA - Breast invasive adenocarcinoma(221;0.0429) GCACCACAGAGACCTTCAGAT 0.318 NA 6 34 0 0 0 0 PDE1A 5136 broad.mit.edu 37 2 183066183 183066183 + Missense_Mutation SNP C C T TCGA-DQ-7588-01A-11D-2078-08 TCGA-DQ-7588-10B-01D-2078-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 6aad9b01-6a99-4f21-955f-7938af25a188 2805f3b2-5a20-4124-a730-3bb6ea20ffc0 g.chr2:183066183C>T uc002uos.2 - 11 1240 c.1156G>A c.(1156-1158)GAG>AAG p.E386K PDE1A_uc010zfp.1_Missense_Mutation_p.E282K|PDE1A_uc002uoq.1_Missense_Mutation_p.E386K|PDE1A_uc010zfq.1_Missense_Mutation_p.E386K|PDE1A_uc002uor.2_Missense_Mutation_p.E370K|PDE1A_uc002uou.2_Missense_Mutation_p.E352K NM_001003683 NP_001003683 P54750 PDE1A_HUMAN phosphodiesterase 1A isoform 2 386 Catalytic (By similarity). activation of phospholipase C activity|nerve growth factor receptor signaling pathway|platelet activation cytosol 3',5'-cyclic-AMP phosphodiesterase activity|3',5'-cyclic-GMP phosphodiesterase activity|calmodulin binding|calmodulin-dependent cyclic-nucleotide phosphodiesterase activity|metal ion binding skin(2)|ovary(1) 3 OV - Ovarian serous cystadenocarcinoma(117;0.061) AAAAACTCCTCCATTAGGGCC 0.483 NA 35 40 0 0 0 0 HECW2 57520 broad.mit.edu 37 2 197138837 197138837 + Missense_Mutation SNP T T A TCGA-DQ-7588-01A-11D-2078-08 TCGA-DQ-7588-10B-01D-2078-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 6aad9b01-6a99-4f21-955f-7938af25a188 2805f3b2-5a20-4124-a730-3bb6ea20ffc0 g.chr2:197138837T>A uc002utm.1 - 16 3329 c.3146A>T c.(3145-3147)GAT>GTT p.D1049V HECW2_uc002utl.1_Missense_Mutation_p.D693V NM_020760 NP_065811 Q9P2P5 HECW2_HUMAN HECT, C2 and WW domain containing E3 ubiquitin 1049 Interaction with TP73. protein ubiquitination involved in ubiquitin-dependent protein catabolic process cytoplasm ubiquitin-protein ligase activity skin(5)|ovary(5)|lung(4)|pancreas(2)|central_nervous_system(1)|kidney(1) 18 ATGTCGAGAATCTTCTCCTAC 0.438 NA 14 15 0 0 0 0 ALS2CR8 79800 broad.mit.edu 37 2 203817391 203817391 + Missense_Mutation SNP A A G TCGA-DQ-7588-01A-11D-2078-08 TCGA-DQ-7588-10B-01D-2078-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 6aad9b01-6a99-4f21-955f-7938af25a188 2805f3b2-5a20-4124-a730-3bb6ea20ffc0 g.chr2:203817391A>G uc002uzo.2 + 5 696 c.416A>G c.(415-417)AAT>AGT p.N139S ALS2CR8_uc002uzn.2_Missense_Mutation_p.N37S|ALS2CR8_uc002uzm.2_Missense_Mutation_p.N139S|ALS2CR8_uc010zhy.1_Missense_Mutation_p.N139S|ALS2CR8_uc010zhz.1_RNA|ALS2CR8_uc010ftu.1_RNA|ALS2CR8_uc010zia.1_Missense_Mutation_p.N63S|ALS2CR8_uc010zib.1_Missense_Mutation_p.N63S|ALS2CR8_uc010zic.1_Missense_Mutation_p.N51S|ALS2CR8_uc002uzp.2_Missense_Mutation_p.N139S NM_001104586 NP_001098056 Q8N187 AL2S8_HUMAN amyotrophic lateral sclerosis 2 (juvenile) 139 large_intestine(1)|ovary(1) 2 GTGGATGTGAATAGTCCTCGG 0.418 NA 30 38 0 0 0 0 ADAM33 80332 broad.mit.edu 37 20 3654911 3654911 + Missense_Mutation SNP C C A TCGA-DQ-7588-01A-11D-2078-08 TCGA-DQ-7588-10B-01D-2078-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 6aad9b01-6a99-4f21-955f-7938af25a188 2805f3b2-5a20-4124-a730-3bb6ea20ffc0 g.chr20:3654911C>A uc002wit.2 - 7 708 c.621G>T c.(619-621)AGG>AGT p.R207S ADAM33_uc002wir.1_Missense_Mutation_p.R207S|ADAM33_uc002wis.2_5'Flank|ADAM33_uc002wiu.2_Missense_Mutation_p.R207S|ADAM33_uc002wiw.1_RNA|ADAM33_uc010gba.1_Intron|ADAM33_uc010gbb.1_Intron|ADAM33_uc002wix.1_Missense_Mutation_p.R130S|ADAM33_uc010zqg.1_Missense_Mutation_p.R219S|ADAM33_uc010zqh.1_Missense_Mutation_p.R207S NM_025220 NP_079496 Q9BZ11 ADA33_HUMAN ADAM metallopeptidase domain 33 isoform alpha 207 Extracellular (Potential). proteolysis integral to membrane metalloendopeptidase activity|zinc ion binding large_intestine(2)|ovary(1)|skin(1) 4 ACTTCCGGGTCCTGCGCGCTT 0.642 NA 17 49 2.23e-06 2.4e-06 1 0 DEFB115 245929 broad.mit.edu 37 20 29847327 29847327 + Missense_Mutation SNP G G C TCGA-DQ-7588-01A-11D-2078-08 TCGA-DQ-7588-10B-01D-2078-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 6aad9b01-6a99-4f21-955f-7938af25a188 2805f3b2-5a20-4124-a730-3bb6ea20ffc0 g.chr20:29847327G>C uc002wvp.1 + 2 159 c.159G>C c.(157-159)GAG>GAC p.E53D NM_001037730 NP_001032819 Q30KQ5 DB115_HUMAN beta-defensin 115 precursor 53 defense response to bacterium extracellular region ovary(1) 1 Colorectal(19;0.00445)|COAD - Colon adenocarcinoma(19;0.0347) AAGAAATTGAGAGGAAGAAAG 0.353 NA 19 26 0 0 0 0 PLCG1 5335 broad.mit.edu 37 20 39797452 39797452 + Missense_Mutation SNP G G C TCGA-DQ-7588-01A-11D-2078-08 TCGA-DQ-7588-10B-01D-2078-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 6aad9b01-6a99-4f21-955f-7938af25a188 2805f3b2-5a20-4124-a730-3bb6ea20ffc0 g.chr20:39797452G>C uc002xjp.1 + 21 2546 c.2425G>C c.(2425-2427)GAG>CAG p.E809Q PLCG1_uc002xjo.1_Missense_Mutation_p.E809Q|PLCG1_uc010zwe.1_Missense_Mutation_p.E435Q|PLCG1_uc010ggf.2_Missense_Mutation_p.E133Q NM_182811 NP_877963 P19174 PLCG1_HUMAN phospholipase C, gamma 1 isoform b 809 SH3. activation of phospholipase C activity|axon guidance|blood coagulation|cellular response to epidermal growth factor stimulus|epidermal growth factor receptor signaling pathway|fibroblast growth factor receptor signaling pathway|interspecies interaction between organisms|intracellular signal transduction|leukocyte migration|nerve growth factor receptor signaling pathway|phospholipid catabolic process|positive regulation of angiogenesis|positive regulation of blood vessel endothelial cell migration|positive regulation of epithelial cell migration|T cell receptor signaling pathway cytosol|lamellipodium|plasma membrane|ruffle calcium ion binding|phosphatidylinositol phospholipase C activity|protein binding|receptor signaling protein activity lung(3)|breast(3)|skin(2) 8 Myeloproliferative disorder(115;0.00878) GAGGGAGGACGAGCTGACCTT 0.577 NA 6 17 0 0 0 0 APP 351 broad.mit.edu 37 21 27348289 27348289 + Missense_Mutation SNP G G A TCGA-DQ-7588-01A-11D-2078-08 TCGA-DQ-7588-10B-01D-2078-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 6aad9b01-6a99-4f21-955f-7938af25a188 2805f3b2-5a20-4124-a730-3bb6ea20ffc0 g.chr21:27348289G>A uc002ylz.2 - 10 1477 c.1277C>T c.(1276-1278)GCT>GTT p.A426V APP_uc010glk.2_Missense_Mutation_p.A402V|APP_uc002yma.2_Missense_Mutation_p.A407V|APP_uc011ach.1_Missense_Mutation_p.A370V|APP_uc002ymb.2_Missense_Mutation_p.A351V|APP_uc010glj.2_Missense_Mutation_p.A295V|APP_uc011aci.1_Missense_Mutation_p.A316V NM_000484 NP_000475 P05067 A4_HUMAN amyloid beta A4 protein isoform a precursor 426 Extracellular (Potential). adult locomotory behavior|axon cargo transport|axon midline choice point recognition|cell adhesion|cellular copper ion homeostasis|collateral sprouting in absence of injury|dendrite development|endocytosis|extracellular matrix organization|G2 phase of mitotic cell cycle|innate immune response|ionotropic glutamate receptor signaling pathway|mating behavior|mRNA polyadenylation|neuron apoptosis|neuron remodeling|Notch signaling pathway|platelet activation|platelet degranulation|positive regulation of mitotic cell cycle|protein phosphorylation|regulation of epidermal growth factor receptor activity|regulation of multicellular organism growth|regulation of synapse structure and activity|regulation of translation|visual learning axon|cell surface|coated pit|dendritic shaft|dendritic spine|extracellular region|Golgi apparatus|integral to plasma membrane|platelet alpha granule lumen acetylcholine receptor binding|DNA binding|heparin binding|identical protein binding|metal ion binding|protein binding|protein binding|PTB domain binding|serine-type endopeptidase inhibitor activity ovary(1) 1 Breast(209;0.00295) CTTCTTATCAGCTTTAGGCAA 0.378 NA 12 34 0 0 0 0 GART 2618 broad.mit.edu 37 21 34889435 34889435 + Silent SNP G G A TCGA-DQ-7588-01A-11D-2078-08 TCGA-DQ-7588-10B-01D-2078-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 6aad9b01-6a99-4f21-955f-7938af25a188 2805f3b2-5a20-4124-a730-3bb6ea20ffc0 g.chr21:34889435G>A uc002yrx.2 - 16 2103 c.1968C>T c.(1966-1968)CTC>CTT p.L656L GART_uc002yrz.2_Silent_p.L656L|GART_uc010gmd.2_Silent_p.L318L|GART_uc002yry.2_Silent_p.L656L NM_000819 NP_000810 P22102 PUR2_HUMAN phosphoribosylglycinamide formyltransferase, 656 AIRS. 'de novo' IMP biosynthetic process|purine base biosynthetic process cytosol ATP binding|metal ion binding|methyltransferase activity|phosphoribosylamine-glycine ligase activity|phosphoribosylformylglycinamidine cyclo-ligase activity|phosphoribosylglycinamide formyltransferase activity|protein binding ovary(1) 1 Pemetrexed(DB00642) TGGTAGGCGTGAGAAGTAAGT 0.423 NA 70 34 0 0 0 0 CECR2 27443 broad.mit.edu 37 22 18022014 18022014 + Nonsense_Mutation SNP C C T TCGA-DQ-7588-01A-11D-2078-08 TCGA-DQ-7588-10B-01D-2078-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 6aad9b01-6a99-4f21-955f-7938af25a188 2805f3b2-5a20-4124-a730-3bb6ea20ffc0 g.chr22:18022014C>T uc010gqw.1 + 15 2242 c.2116C>T c.(2116-2118)CAG>TAG p.Q706* CECR2_uc010gqv.1_Nonsense_Mutation_p.Q565*|CECR2_uc002zml.2_Nonsense_Mutation_p.Q565* NM_031413 NP_113601 Q9BXF3 CECR2_HUMAN cat eye syndrome chromosome region, candidate 2 748 chromatin modification|cytokinesis|cytoskeleton organization|DNA fragmentation involved in apoptotic nuclear change|vesicle-mediated transport protein binding ovary(1)|skin(1) 2 all_epithelial(15;0.139) Lung(27;0.146) TGCTCCAGCTCAGTTCCAGCC 0.572 NA 6 12 0 0 0 0 EMID1 129080 broad.mit.edu 37 22 29627089 29627089 + Silent SNP C C A TCGA-DQ-7588-01A-11D-2078-08 TCGA-DQ-7588-10B-01D-2078-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 6aad9b01-6a99-4f21-955f-7938af25a188 2805f3b2-5a20-4124-a730-3bb6ea20ffc0 g.chr22:29627089C>A uc003aen.2 + 6 615 c.540C>A c.(538-540)CCC>CCA p.P180P EMID1_uc003aem.2_Silent_p.P182P|EMID1_uc003aeo.2_Silent_p.P182P|EMID1_uc003aep.2_Silent_p.P182P NM_133455 NP_597712 Q96A84 EMID1_HUMAN EMI domain containing 1 180 Collagen-like. collagen 0 TCTGGGGTCCCCCTCCTGCCC 0.537 NA 29 48 1.75e-13 1.96e-13 1 0 FBXO7 25793 broad.mit.edu 37 22 32889111 32889111 + Silent SNP A A G TCGA-DQ-7588-01A-11D-2078-08 TCGA-DQ-7588-10B-01D-2078-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 6aad9b01-6a99-4f21-955f-7938af25a188 2805f3b2-5a20-4124-a730-3bb6ea20ffc0 g.chr22:32889111A>G uc003amq.2 + 7 1270 c.987A>G c.(985-987)GTA>GTG p.V329V FBXO7_uc003amr.2_Silent_p.V215V|FBXO7_uc003ams.2_Silent_p.V173V|FBXO7_uc003amt.2_Silent_p.V250V|FBXO7_uc003amu.2_Silent_p.V215V|FBXO7_uc003amv.2_Silent_p.V28V NM_012179 NP_036311 Q9Y3I1 FBX7_HUMAN F-box only protein 7 isoform 1 329 F-box. cell death|regulation of protein stability|ubiquitin-dependent protein catabolic process ubiquitin ligase complex protein binding|ubiquitin-protein ligase activity ovary(1) 1 TACCAGATGTATTTGGGTTGG 0.438 NA 42 91 0 0 0 0 OXSR1 9943 broad.mit.edu 37 3 38271893 38271893 + Missense_Mutation SNP C C A TCGA-DQ-7588-01A-11D-2078-08 TCGA-DQ-7588-10B-01D-2078-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 6aad9b01-6a99-4f21-955f-7938af25a188 2805f3b2-5a20-4124-a730-3bb6ea20ffc0 g.chr3:38271893C>A uc003chy.2 + 10 1265 c.923C>A c.(922-924)GCA>GAA p.A308E OXSR1_uc010hhb.2_Missense_Mutation_p.A242E|OXSR1_uc010hha.1_Missense_Mutation_p.A240E NM_005109 NP_005100 O95747 OXSR1_HUMAN oxidative-stress responsive 1 308 intracellular protein kinase cascade|response to oxidative stress ATP binding|identical protein binding|magnesium ion binding|protein serine/threonine kinase activity skin(1) 1 KIRC - Kidney renal clear cell carcinoma(284;0.0588)|Kidney(284;0.0738) TTGCAGAGAGCACCAACCATT 0.289 NA 25 26 5.62e-17 6.44e-17 1 0 PHLDB2 90102 broad.mit.edu 37 3 111681154 111681154 + Missense_Mutation SNP C C G TCGA-DQ-7588-01A-11D-2078-08 TCGA-DQ-7588-10B-01D-2078-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 6aad9b01-6a99-4f21-955f-7938af25a188 2805f3b2-5a20-4124-a730-3bb6ea20ffc0 g.chr3:111681154C>G uc010hqa.2 + 13 3483 c.3072C>G c.(3070-3072)ATC>ATG p.I1024M PHLDB2_uc003dyc.2_Missense_Mutation_p.I1008M|PHLDB2_uc003dyd.2_Missense_Mutation_p.I981M|PHLDB2_uc003dyg.2_Missense_Mutation_p.I1024M|PHLDB2_uc003dyh.2_Missense_Mutation_p.I981M|PHLDB2_uc003dyi.2_Missense_Mutation_p.I515M|PHLDB2_uc003dyj.2_Missense_Mutation_p.I79M NM_001134438 NP_001127910 Q86SQ0 PHLB2_HUMAN pleckstrin homology-like domain, family B, 1024 cytoplasm|intermediate filament cytoskeleton|plasma membrane ovary(4)|skin(2) 6 CAGACAACATCTCTAGGTAAG 0.438 NA 13 39 0 0 0 0 KALRN 8997 broad.mit.edu 37 3 124103785 124103785 + Nonsense_Mutation SNP C C T TCGA-DQ-7588-01A-11D-2078-08 TCGA-DQ-7588-10B-01D-2078-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 6aad9b01-6a99-4f21-955f-7938af25a188 2805f3b2-5a20-4124-a730-3bb6ea20ffc0 g.chr3:124103785C>T uc003ehg.2 + 11 1985 c.1858C>T c.(1858-1860)CGA>TGA p.R620* KALRN_uc010hrv.1_Nonsense_Mutation_p.R620*|KALRN_uc003ehf.1_Nonsense_Mutation_p.R620*|KALRN_uc011bjy.1_Nonsense_Mutation_p.R620*|KALRN_uc003ehh.1_5'UTR NM_001024660 NP_001019831 O60229 KALRN_HUMAN kalirin, RhoGEF kinase isoform 1 620 Spectrin 3. 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 CAAGGCAGCTCGACACCTGGA 0.567 NA 23 39 0 0 0 0 PIK3CB 5291 broad.mit.edu 37 3 138431123 138431123 + Missense_Mutation SNP A A T TCGA-DQ-7588-01A-11D-2078-08 TCGA-DQ-7588-10B-01D-2078-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 6aad9b01-6a99-4f21-955f-7938af25a188 2805f3b2-5a20-4124-a730-3bb6ea20ffc0 g.chr3:138431123A>T uc011bmq.1 - 8 1326 c.1326T>A c.(1324-1326)AAT>AAA p.N442K PIK3CB_uc011bmo.1_5'UTR|PIK3CB_uc011bmp.1_Missense_Mutation_p.N46K NM_006219 NP_006210 P42338 PK3CB_HUMAN catalytic phosphatidylinositol 3-kinase beta 442 C2 PI3K-type. activation of MAPK activity|chemotaxis|fibroblast growth factor receptor signaling pathway|G-protein coupled receptor protein signaling pathway|insulin receptor signaling pathway|leukocyte migration|nerve growth factor receptor signaling pathway|phosphatidylinositol-mediated signaling|platelet activation|T cell receptor signaling pathway phosphatidylinositol 3-kinase complex 1-phosphatidylinositol-3-kinase activity|ATP binding|phosphatidylinositol-4,5-bisphosphate 3-kinase activity breast(2)|ovary(1)|lung(1)|skin(1) 5 AAACCATCGTATTTACCCACG 0.343 NA 7 21 0 0 0 0 SGEF 26084 broad.mit.edu 37 3 153840682 153840682 + Missense_Mutation SNP G G T TCGA-DQ-7588-01A-11D-2078-08 TCGA-DQ-7588-10B-01D-2078-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 6aad9b01-6a99-4f21-955f-7938af25a188 2805f3b2-5a20-4124-a730-3bb6ea20ffc0 g.chr3:153840682G>T uc011bog.1 + 2 1112 c.901G>T c.(901-903)GAC>TAC p.D301Y uc003ezu.1_5'Flank|SGEF_uc011boh.1_Missense_Mutation_p.D301Y NM_015595 NP_056410 Q96DR7 ARHGQ_HUMAN Src homology 3 domain-containing guanine 301 regulation of Rho protein signal transduction intracellular|ruffle Rho guanyl-nucleotide exchange factor activity large_intestine(1) 1 LUSC - Lung squamous cell carcinoma(72;0.114)|Lung(72;0.173) GGTCGATAACGACGTGGATAG 0.592 NA 5 9 1.24e-05 1.3e-05 1 0 GUF1 60558 broad.mit.edu 37 4 44684387 44684387 + Missense_Mutation SNP G G A TCGA-DQ-7588-01A-11D-2078-08 TCGA-DQ-7588-10B-01D-2078-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 6aad9b01-6a99-4f21-955f-7938af25a188 2805f3b2-5a20-4124-a730-3bb6ea20ffc0 g.chr4:44684387G>A uc003gww.3 + 5 751 c.544G>A c.(544-546)GCC>ACC p.A182T GUF1_uc010ifz.1_RNA NM_021927 NP_068746 Q8N442 GUF1_HUMAN GUF1 GTPase homolog 182 translation mitochondrial inner membrane GTP binding|GTPase activity upper_aerodigestive_tract(1) 1 CTTCTTTCTTGCCTTCGAAGC 0.318 NA 23 69 0 0 0 0 AASDH 132949 broad.mit.edu 37 4 57244333 57244333 + Missense_Mutation SNP G G C TCGA-DQ-7588-01A-11D-2078-08 TCGA-DQ-7588-10B-01D-2078-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 6aad9b01-6a99-4f21-955f-7938af25a188 2805f3b2-5a20-4124-a730-3bb6ea20ffc0 g.chr4:57244333G>C uc003hbn.2 - 4 802 c.649C>G c.(649-651)CCA>GCA p.P217A AASDH_uc010ihb.2_5'UTR|AASDH_uc011caa.1_Missense_Mutation_p.P64A|AASDH_uc003hbo.2_Missense_Mutation_p.P117A|AASDH_uc011cab.1_Intron|AASDH_uc010ihc.2_Missense_Mutation_p.P217A|AASDH_uc003hbp.2_Missense_Mutation_p.P217A NM_181806 NP_861522 Q4L235 ACSF4_HUMAN aminoadipate-semialdehyde dehydrogenase 217 fatty acid metabolic process acid-thiol ligase activity|acyl carrier activity|ATP binding|cofactor binding ovary(4) 4 Glioma(25;0.08)|all_neural(26;0.101) all_hematologic(202;0.0017) TGGATATTTGGTACTATACAC 0.313 NA 32 46 0 0 0 0 CNOT6L 246175 broad.mit.edu 37 4 78641683 78641683 + Missense_Mutation SNP G G A TCGA-DQ-7588-01A-11D-2078-08 TCGA-DQ-7588-10B-01D-2078-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 6aad9b01-6a99-4f21-955f-7938af25a188 2805f3b2-5a20-4124-a730-3bb6ea20ffc0 g.chr4:78641683G>A uc011ccd.1 - 12 1701 c.1570C>T c.(1570-1572)CAC>TAC p.H524Y CNOT6L_uc003hks.2_Missense_Mutation_p.H524Y NM_144571 NP_653172 Q96LI5 CNO6L_HUMAN CCR4-NOT transcription complex, subunit 6-like 524 nuclear-transcribed mRNA poly(A) tail shortening cytosol exonuclease activity|protein binding large_intestine(1) 1 GAAGGGATGTGAGGGTGTGGA 0.488 NA 30 131 0 0 0 0 GRID2 2895 broad.mit.edu 37 4 94377080 94377080 + Missense_Mutation SNP C C G TCGA-DQ-7588-01A-11D-2078-08 TCGA-DQ-7588-10B-01D-2078-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 6aad9b01-6a99-4f21-955f-7938af25a188 2805f3b2-5a20-4124-a730-3bb6ea20ffc0 g.chr4:94377080C>G uc011cdt.1 + 11 2071 c.1813C>G c.(1813-1815)CTC>GTC p.L605V GRID2_uc011cdu.1_Missense_Mutation_p.L510V NM_001510 NP_001501 O43424 GRID2_HUMAN glutamate receptor, ionotropic, delta 2 605 Cytoplasmic (Potential). glutamate signaling pathway cell junction|integral to plasma membrane|outer membrane-bounded periplasmic space|postsynaptic membrane extracellular-glutamate-gated ion channel activity|ionotropic glutamate receptor activity ovary(3)|skin(2)|large_intestine(1) 6 Hepatocellular(203;0.114)|all_hematologic(202;0.177) OV - Ovarian serous cystadenocarcinoma(123;3.22e-06)|LUSC - Lung squamous cell carcinoma(81;0.185)|Lung(65;0.191) L-Glutamic Acid(DB00142) GTCTACTACTCTCTACAACTC 0.403 NA 29 47 0 0 0 0 NAF1 92345 broad.mit.edu 37 4 164050333 164050333 + Missense_Mutation SNP T T C TCGA-DQ-7588-01A-11D-2078-08 TCGA-DQ-7588-10B-01D-2078-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 6aad9b01-6a99-4f21-955f-7938af25a188 2805f3b2-5a20-4124-a730-3bb6ea20ffc0 g.chr4:164050333T>C uc003iqj.2 - 8 1395 c.1201A>G c.(1201-1203)ATG>GTG p.M401V NAF1_uc010iqw.1_Intron NM_138386 NP_612395 Q96HR8 NAF1_HUMAN nuclear assembly factor 1 homolog isoform a 401 rRNA processing|snRNA pseudouridine synthesis cytoplasm|nucleus|small nucleolar ribonucleoprotein complex protein binding|snoRNA binding ovary(2) 2 all_hematologic(180;0.166) Prostate(90;0.109) TGAGATACCATATGTTCTGAG 0.433 NA 21 24 0 0 0 0 DNAH5 1767 broad.mit.edu 37 5 13900460 13900460 + Missense_Mutation SNP T T A TCGA-DQ-7588-01A-11D-2078-08 TCGA-DQ-7588-10B-01D-2078-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 6aad9b01-6a99-4f21-955f-7938af25a188 2805f3b2-5a20-4124-a730-3bb6ea20ffc0 g.chr5:13900460T>A uc003jfd.2 - 15 2156 c.2114A>T c.(2113-2115)GAA>GTA p.E705V NM_001369 NP_001360 Q8TE73 DYH5_HUMAN dynein, axonemal, heavy chain 5 705 Stem (By similarity). microtubule-based movement cilium axoneme|cytoplasm|microtubule ATP binding|ATPase activity|microtubule motor activity ovary(14)|skin(13)|upper_aerodigestive_tract(1)|central_nervous_system(1)|breast(1)|pancreas(1) 31 Lung NSC(4;0.00476) TACAAACAATTCCCCTGTGCC 0.428 NA Kartagener_syndrome 24 55 0 0 0 0 PRKAA1 5562 broad.mit.edu 37 5 40765031 40765031 + Silent SNP G G A TCGA-DQ-7588-01A-11D-2078-08 TCGA-DQ-7588-10B-01D-2078-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 6aad9b01-6a99-4f21-955f-7938af25a188 2805f3b2-5a20-4124-a730-3bb6ea20ffc0 g.chr5:40765031G>A uc003jmc.2 - 7 1137 c.1131C>T c.(1129-1131)TTC>TTT p.F377F PRKAA1_uc003jmb.2_Silent_p.F392F NM_006251 NP_006242 Q13131 AAPK1_HUMAN protein kinase, AMP-activated, alpha 1 catalytic 377 activation of MAPK activity|cell cycle arrest|cholesterol biosynthetic process|fatty acid biosynthetic process|insulin receptor signaling pathway|negative regulation of glucosylceramide biosynthetic process|positive regulation of anti-apoptosis|positive regulation of cholesterol biosynthetic process|regulation of fatty acid oxidation|response to hypoxia cytosol ATP binding|cAMP-dependent protein kinase activity|metal ion binding|protein binding breast(1) 1 Adenosine monophosphate(DB00131)|Adenosine triphosphate(DB00171)|Phenformin(DB00914) CAGCAACCAAGAATGGTACTC 0.428 NA 8 34 0 0 0 0 PRKAA1 5562 broad.mit.edu 37 5 40765109 40765109 + Silent SNP G G A rs116338283 by1000genomes TCGA-DQ-7588-01A-11D-2078-08 TCGA-DQ-7588-10B-01D-2078-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 6aad9b01-6a99-4f21-955f-7938af25a188 2805f3b2-5a20-4124-a730-3bb6ea20ffc0 g.chr5:40765109G>A uc003jmc.2 - 7 1059 c.1053C>T c.(1051-1053)TTC>TTT p.F351F PRKAA1_uc003jmb.2_Silent_p.F366F NM_006251 NP_006242 Q13131 AAPK1_HUMAN protein kinase, AMP-activated, alpha 1 catalytic 351 activation of MAPK activity|cell cycle arrest|cholesterol biosynthetic process|fatty acid biosynthetic process|insulin receptor signaling pathway|negative regulation of glucosylceramide biosynthetic process|positive regulation of anti-apoptosis|positive regulation of cholesterol biosynthetic process|regulation of fatty acid oxidation|response to hypoxia cytosol ATP binding|cAMP-dependent protein kinase activity|metal ion binding|protein binding breast(1) 1 Adenosine monophosphate(DB00131)|Adenosine triphosphate(DB00171)|Phenformin(DB00914) TCGCCAAATAGAAATCTTTGG 0.433 NA 18 57 0 0 0 0 ACTBL2 345651 broad.mit.edu 37 5 56777724 56777724 + Missense_Mutation SNP C C G TCGA-DQ-7588-01A-11D-2078-08 TCGA-DQ-7588-10B-01D-2078-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 6aad9b01-6a99-4f21-955f-7938af25a188 2805f3b2-5a20-4124-a730-3bb6ea20ffc0 g.chr5:56777724C>G uc003jrm.2 - 1 913 c.811G>C c.(811-813)GAG>CAG p.E271Q NM_001017992 NP_001017992 Q562R1 ACTBL_HUMAN actin, beta-like 2 271 cytoplasm|cytoskeleton ATP binding ovary(3) 3 Lung NSC(810;0.000135)|Prostate(74;0.055)|Breast(144;0.0707)|Ovarian(174;0.182) OV - Ovarian serous cystadenocarcinoma(10;4.24e-37) CCACTGGACTCAATGCCCAGA 0.502 NA 10 30 0 0 0 0 PCDHA2 56146 broad.mit.edu 37 5 140176801 140176801 + Missense_Mutation SNP C C G TCGA-DQ-7588-01A-11D-2078-08 TCGA-DQ-7588-10B-01D-2078-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 6aad9b01-6a99-4f21-955f-7938af25a188 2805f3b2-5a20-4124-a730-3bb6ea20ffc0 g.chr5:140176801C>G uc003lhd.2 + 1 2358 c.2252C>G c.(2251-2253)TCG>TGG p.S751W PCDHA1_uc003lha.2_Intron|PCDHA1_uc003lhb.2_Intron|PCDHA2_uc003lhc.1_Missense_Mutation_p.S751W|PCDHA2_uc011czy.1_Missense_Mutation_p.S751W NM_018905 NP_061728 Q9Y5H9 PCDA2_HUMAN protocadherin alpha 2 isoform 1 precursor 751 Cytoplasmic (Potential).|5 X 4 AA repeats of P-X-X-P. homophilic cell adhesion|nervous system development integral to plasma membrane calcium ion binding|protein binding ovary(4) 4 KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191) TGGTCTTACTCGCAGCAGAGG 0.667 NA 16 28 0 0 0 0 HAVCR1 26762 broad.mit.edu 37 5 156464353 156464353 + Missense_Mutation SNP C C A TCGA-DQ-7588-01A-11D-2078-08 TCGA-DQ-7588-10B-01D-2078-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 6aad9b01-6a99-4f21-955f-7938af25a188 2805f3b2-5a20-4124-a730-3bb6ea20ffc0 g.chr5:156464353C>A uc010jij.1 - 7 1042 c.857G>T c.(856-858)AGT>ATT p.S286I HAVCR1_uc011ddl.1_Missense_Mutation_p.S117I|HAVCR1_uc003lwi.2_Missense_Mutation_p.S286I NM_001099414 NP_001092884 Q96D42 HAVR1_HUMAN hepatitis A virus cellular receptor 1 281 Extracellular (Potential). interspecies interaction between organisms integral to membrane receptor activity ovary(1)|skin(1) 2 Renal(175;0.00488) Medulloblastoma(196;0.0354)|all_neural(177;0.0999) Kidney(164;0.000171)|KIRC - Kidney renal clear cell carcinoma(164;0.000785) CGTCAGTAGACTATGTTCTAG 0.398 NA 33 36 8.89e-20 1.03e-19 1 0 CNOT6 57472 broad.mit.edu 37 5 179980420 179980420 + Missense_Mutation SNP C C G TCGA-DQ-7588-01A-11D-2078-08 TCGA-DQ-7588-10B-01D-2078-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 6aad9b01-6a99-4f21-955f-7938af25a188 2805f3b2-5a20-4124-a730-3bb6ea20ffc0 g.chr5:179980420C>G uc003mlx.2 + 4 683 c.334C>G c.(334-336)CTA>GTA p.L112V CNOT6_uc010jld.2_Missense_Mutation_p.L112V|CNOT6_uc010jle.2_Missense_Mutation_p.L112V NM_015455 NP_056270 Q9ULM6 CNOT6_HUMAN CCR4-NOT transcription complex, subunit 6 112 LRR 3. nuclear-transcribed mRNA poly(A) tail shortening|regulation of transcription, DNA-dependent|transcription, DNA-dependent cytosol|nucleus exonuclease activity|metal ion binding|protein binding|RNA binding 0 all_cancers(89;3.3e-05)|all_epithelial(37;7.38e-06)|Renal(175;0.000159)|Lung NSC(126;0.00199)|all_lung(126;0.00351)|Breast(19;0.114) all_cancers(40;0.00543)|Medulloblastoma(196;0.0133)|all_neural(177;0.0199)|all_hematologic(541;0.163) Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178) OV - Ovarian serous cystadenocarcinoma(192;0.023) GTTACGAGTTCTACCTTTTGA 0.353 NA 5 23 0 0 0 0 RING1 6015 broad.mit.edu 37 6 33180132 33180132 + Missense_Mutation SNP C C T TCGA-DQ-7588-01A-11D-2078-08 TCGA-DQ-7588-10B-01D-2078-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 6aad9b01-6a99-4f21-955f-7938af25a188 2805f3b2-5a20-4124-a730-3bb6ea20ffc0 g.chr6:33180132C>T uc003odk.2 + 7 1371 c.1177C>T c.(1177-1179)CGG>TGG p.R393W RING1_uc003odl.2_Missense_Mutation_p.R364W NM_002931 NP_002922 Q06587 RING1_HUMAN ring finger protein 1 393 Necessary for interaction with CBX2 (By similarity). histone H2A monoubiquitination|negative regulation of transcription, DNA-dependent|transcription, DNA-dependent cytoplasm|nuclear speck|PcG protein complex protein binding|zinc ion binding ovary(1)|skin(1) 2 GAAGGTGTCCCGGCCACTGGA 0.478 NA 4 7 0 0 0 0 ABCC10 89845 broad.mit.edu 37 6 43413617 43413617 + Missense_Mutation SNP A A G TCGA-DQ-7588-01A-11D-2078-08 TCGA-DQ-7588-10B-01D-2078-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 6aad9b01-6a99-4f21-955f-7938af25a188 2805f3b2-5a20-4124-a730-3bb6ea20ffc0 g.chr6:43413617A>G uc003ouy.1 + 15 3526 c.3311A>G c.(3310-3312)TAT>TGT p.Y1104C ABCC10_uc003ouz.1_Missense_Mutation_p.Y1076C|ABCC10_uc010jyo.1_Missense_Mutation_p.Y210C NM_033450 NP_258261 Q5T3U5 MRP7_HUMAN ATP-binding cassette, sub-family C, member 10 1104 ABC transmembrane type-1 2. integral to membrane|plasma membrane ATP binding|ATPase activity, coupled to transmembrane movement of substances ovary(6)|central_nervous_system(1) 7 all_lung(25;0.00536) Colorectal(64;0.00245)|COAD - Colon adenocarcinoma(64;0.00536)|all cancers(41;0.0152)|OV - Ovarian serous cystadenocarcinoma(102;0.0804) TCTCCACTGTATAGCCATCTG 0.637 NA 21 43 0 0 0 0 GFRAL 389400 broad.mit.edu 37 6 55223758 55223758 + Nonsense_Mutation SNP C C A TCGA-DQ-7588-01A-11D-2078-08 TCGA-DQ-7588-10B-01D-2078-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 6aad9b01-6a99-4f21-955f-7938af25a188 2805f3b2-5a20-4124-a730-3bb6ea20ffc0 g.chr6:55223758C>A uc003pcm.1 + 6 860 c.774C>A c.(772-774)TGC>TGA p.C258* NM_207410 NP_997293 Q6UXV0 GFRAL_HUMAN GDNF family receptor alpha like precursor 258 Extracellular (Potential). integral to membrane receptor activity ovary(1)|breast(1) 2 Lung NSC(77;0.0875)|Renal(3;0.122) LUSC - Lung squamous cell carcinoma(124;0.23) ATGAGAATTGCATTAGCACCT 0.413 NA 28 51 8.25e-16 9.41e-16 1 0 HDAC9 9734 broad.mit.edu 37 7 18688255 18688255 + Missense_Mutation SNP G G C TCGA-DQ-7588-01A-11D-2078-08 TCGA-DQ-7588-10B-01D-2078-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 6aad9b01-6a99-4f21-955f-7938af25a188 2805f3b2-5a20-4124-a730-3bb6ea20ffc0 g.chr7:18688255G>C uc003suh.2 + 10 1448 c.1407G>C c.(1405-1407)CAG>CAC p.Q469H HDAC9_uc003sue.2_Missense_Mutation_p.Q469H|HDAC9_uc011jyd.1_Missense_Mutation_p.Q469H|HDAC9_uc003sui.2_Missense_Mutation_p.Q472H|HDAC9_uc003suj.2_Missense_Mutation_p.Q428H|HDAC9_uc011jya.1_Missense_Mutation_p.Q466H|HDAC9_uc003sua.1_Missense_Mutation_p.Q447H|HDAC9_uc011jyb.1_Missense_Mutation_p.Q425H|HDAC9_uc003sud.1_Missense_Mutation_p.Q469H|HDAC9_uc011jyc.1_Missense_Mutation_p.Q428H|HDAC9_uc003suf.1_Missense_Mutation_p.Q500H|HDAC9_uc010kud.1_Missense_Mutation_p.Q472H|HDAC9_uc011jye.1_Missense_Mutation_p.Q441H|HDAC9_uc011jyf.1_Missense_Mutation_p.Q392H|HDAC9_uc010kue.1_Missense_Mutation_p.Q212H NM_058176 NP_478056 Q9UKV0 HDAC9_HUMAN histone deacetylase 9 isoform 1 469 B cell differentiation|cellular response to insulin stimulus|heart development|histone H3 deacetylation|histone H4 deacetylation|inflammatory response|negative regulation of transcription from RNA polymerase II promoter|negative regulation of transcription, DNA-dependent|peptidyl-lysine deacetylation|positive regulation of cell migration involved in sprouting angiogenesis|regulation of skeletal muscle fiber development|transcription, DNA-dependent cytoplasm|histone deacetylase complex|histone methyltransferase complex|transcription factor complex histone deacetylase activity (H3-K16 specific)|histone deacetylase binding|histone deacetylase binding|NAD-dependent histone deacetylase activity (H3-K14 specific)|NAD-dependent histone deacetylase activity (H3-K9 specific)|NAD-dependent histone deacetylase activity (H4-K16 specific)|protein binding|protein kinase C binding|repressing transcription factor binding|transcription corepressor activity lung(2)|central_nervous_system(2)|kidney(1) 5 all_lung(11;0.187) Valproic Acid(DB00313) AGCAACACCAGCAATTCTTGG 0.498 NA 16 23 0 0 0 0 HNRNPA2B1 3181 broad.mit.edu 37 7 26232879 26232879 + Missense_Mutation SNP T T C TCGA-DQ-7588-01A-11D-2078-08 TCGA-DQ-7588-10B-01D-2078-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 6aad9b01-6a99-4f21-955f-7938af25a188 2805f3b2-5a20-4124-a730-3bb6ea20ffc0 g.chr7:26232879T>C uc003sxr.3 - 10 1208 c.992A>G c.(991-993)TAT>TGT p.Y331C HNRNPA2B1_uc003sxs.3_Missense_Mutation_p.Y319C NM_031243 NP_112533 P22626 ROA2_HUMAN heterogeneous nuclear ribonucleoprotein A2/B1 331 Gly-rich.|Nuclear targeting sequence (By similarity). RNA transport catalytic step 2 spliceosome|cytoplasm|heterogeneous nuclear ribonucleoprotein complex|nucleolus|nucleoplasm nucleotide binding|protein binding|protein binding|RNA binding|single-stranded telomeric DNA binding ovary(1)|central_nervous_system(1)|skin(1) 3 ACCTCCACCATATGGTCCCCC 0.358 NA T ETV1 prostate 29 59 0 0 0 0 SFRP4 6424 broad.mit.edu 37 7 37955807 37955807 + Silent SNP G G A TCGA-DQ-7588-01A-11D-2078-08 TCGA-DQ-7588-10B-01D-2078-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 6aad9b01-6a99-4f21-955f-7938af25a188 2805f3b2-5a20-4124-a730-3bb6ea20ffc0 g.chr7:37955807G>A uc003tfo.3 - 1 719 c.333C>T c.(331-333)CTC>CTT p.L111L NM_003014 NP_003005 Q6FHJ7 SFRP4_HUMAN secreted frizzled-related protein 4 precursor 111 FZ. brain development|cell differentiation|decidualization|embryo development|epithelium development|gonad development|mammary gland involution|menstrual cycle phase|negative regulation of canonical Wnt receptor signaling pathway|negative regulation of cell proliferation|negative regulation of JNK cascade|negative regulation of sequence-specific DNA binding transcription factor activity|negative regulation of sodium-dependent phosphate transport|phosphate ion homeostasis|positive regulation of apoptosis|positive regulation of canonical Wnt receptor signaling pathway|positive regulation of epidermal cell differentiation|positive regulation of gene expression|positive regulation of receptor internalization|vasculature development|Wnt receptor signaling pathway cell surface|cytoplasm|extracellular space|nucleus PDZ domain binding|Wnt receptor activity|Wnt-protein binding lung(1) 1 ACATCTTCATGAGGGGCTCGC 0.627 NA 19 33 0 0 0 0 SEMA3A 10371 broad.mit.edu 37 7 83643661 83643661 + Missense_Mutation SNP T T A TCGA-DQ-7588-01A-11D-2078-08 TCGA-DQ-7588-10B-01D-2078-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 6aad9b01-6a99-4f21-955f-7938af25a188 2805f3b2-5a20-4124-a730-3bb6ea20ffc0 g.chr7:83643661T>A uc003uhz.2 - 7 989 c.674A>T c.(673-675)AAG>ATG p.K225M NM_006080 NP_006071 Q14563 SEM3A_HUMAN semaphorin 3A precursor 225 Sema. axon guidance extracellular region|membrane receptor activity ovary(2)|breast(1)|kidney(1) 4 ACTAATGAACTTTGGATCTGA 0.333 NA 11 11 0 0 0 0 BLK 640 broad.mit.edu 37 8 11412840 11412840 + Splice_Site SNP G G C TCGA-DQ-7588-01A-11D-2078-08 TCGA-DQ-7588-10B-01D-2078-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 6aad9b01-6a99-4f21-955f-7938af25a188 2805f3b2-5a20-4124-a730-3bb6ea20ffc0 g.chr8:11412840G>C uc003wty.2 + 8 1201 c.620_splice c.e8-1 p.K207_splice BLK_uc003wtz.2_Splice_Site_p.K136_splice NM_001715 NP_001706 P51451 BLK_HUMAN B lymphoid tyrosine kinase intracellular protein kinase cascade|positive regulation of insulin secretion ATP binding|non-membrane spanning protein tyrosine kinase activity large_intestine(1)|stomach(1)|ovary(1) 3 STAD - Stomach adenocarcinoma(15;0.00391) COAD - Colon adenocarcinoma(149;0.207) CCCTAATGCAGAGAAGGGGGA 0.627 NA 42 69 0 0 0 0 LZTS1 11178 broad.mit.edu 37 8 20107757 20107757 + Missense_Mutation SNP G G A TCGA-DQ-7588-01A-11D-2078-08 TCGA-DQ-7588-10B-01D-2078-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 6aad9b01-6a99-4f21-955f-7938af25a188 2805f3b2-5a20-4124-a730-3bb6ea20ffc0 g.chr8:20107757G>A uc003wzr.2 - 3 1378 c.1267C>T c.(1267-1269)CGG>TGG p.R423W LZTS1_uc010ltg.1_Missense_Mutation_p.R423W NM_021020 NP_066300 Q9Y250 LZTS1_HUMAN leucine zipper, putative tumor suppressor 1 423 cell cycle|termination of RNA polymerase III transcription|transcription elongation from RNA polymerase III promoter cell junction|dendritic spine|Golgi apparatus|nucleolus|nucleoplasm|postsynaptic density|postsynaptic membrane DNA binding|protein binding|sequence-specific DNA binding transcription factor activity ovary(1) 1 Colorectal(74;0.0511)|COAD - Colon adenocarcinoma(73;0.207) AGCTTGCCCCGCGTGTCCTTC 0.647 NA 67 113 0 0 0 0 CSMD3 114788 broad.mit.edu 37 8 113871401 113871401 + Missense_Mutation SNP C C G TCGA-DQ-7588-01A-11D-2078-08 TCGA-DQ-7588-10B-01D-2078-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 6aad9b01-6a99-4f21-955f-7938af25a188 2805f3b2-5a20-4124-a730-3bb6ea20ffc0 g.chr8:113871401C>G uc003ynu.2 - 11 1887 c.1728G>C c.(1726-1728)TGG>TGC p.W576C CSMD3_uc003ynt.2_Missense_Mutation_p.W536C|CSMD3_uc011lhx.1_Missense_Mutation_p.W472C NM_198123 NP_937756 Q7Z407 CSMD3_HUMAN CUB and Sushi multiple domains 3 isoform 1 576 Extracellular (Potential).|CUB 3. integral to membrane|plasma membrane ovary(21)|lung(11)|skin(11)|kidney(8)|large_intestine(6)|upper_aerodigestive_tract(2)|central_nervous_system(2)|urinary_tract(1)|breast(1) 63 CTGTGATGACCCAGACACATT 0.373 NA HNSCC(6;0.00088)|TCGA Ovarian(7;0.080) 27 54 0 0 0 0 SLC30A8 169026 broad.mit.edu 37 8 118170016 118170016 + Missense_Mutation SNP C C G TCGA-DQ-7588-01A-11D-2078-08 TCGA-DQ-7588-10B-01D-2078-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 6aad9b01-6a99-4f21-955f-7938af25a188 2805f3b2-5a20-4124-a730-3bb6ea20ffc0 g.chr8:118170016C>G uc003yoh.2 + 4 735 c.505C>G c.(505-507)CCT>GCT p.P169A SLC30A8_uc010mcz.2_Missense_Mutation_p.P120A|SLC30A8_uc011lia.1_Missense_Mutation_p.P120A|SLC30A8_uc003yog.2_Missense_Mutation_p.P120A NM_173851 NP_776250 Q8IWU4 ZNT8_HUMAN solute carrier family 30 member 8 169 Extracellular (Potential). insulin secretion|positive regulation of insulin secretion|regulation of sequestering of zinc ion|regulation of vesicle-mediated transport|response to glucose stimulus|sequestering of zinc ion integral to membrane|plasma membrane|secretory granule membrane|transport vesicle membrane protein homodimerization activity|zinc ion transmembrane transporter activity ovary(2)|skin(2) 4 all_cancers(13;2.11e-22)|Lung NSC(37;6.08e-05)|Ovarian(258;0.0173) STAD - Stomach adenocarcinoma(47;0.203) CCTGCTGTATCCTGATTACCA 0.552 NA 81 116 0 0 0 0 SMARCA2 6595 broad.mit.edu 37 9 2101568 2101568 + Splice_Site SNP A A G TCGA-DQ-7588-01A-11D-2078-08 TCGA-DQ-7588-10B-01D-2078-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 6aad9b01-6a99-4f21-955f-7938af25a188 2805f3b2-5a20-4124-a730-3bb6ea20ffc0 g.chr9:2101568A>G uc003zhc.2 + 22 3178 c.3079_splice c.e22-2 p.E1027_splice SMARCA2_uc003zhd.2_Splice_Site_p.E1027_splice|SMARCA2_uc010mha.2_Splice_Site_p.E960_splice NM_003070 NP_003061 P51531 SMCA2_HUMAN SWI/SNF-related matrix-associated chromatin remodeling|negative regulation of cell growth|negative regulation of transcription from RNA polymerase II promoter|nervous system development intermediate filament cytoskeleton|nBAF complex|npBAF complex|nuclear chromatin|nucleoplasm|SWI/SNF complex|WINAC complex ATP binding|DNA-dependent ATPase activity|helicase activity|protein binding|RNA polymerase II transcription coactivator activity|transcription regulatory region DNA binding ovary(2)|central_nervous_system(1) 3 all_lung(10;2.06e-09)|Lung NSC(10;2.43e-09) GBM - Glioblastoma multiforme(50;0.0475) TCTCTTTTAAAGGAATCCTTT 0.274 NA 2 17 0 0 0 0 TRAF2 7186 broad.mit.edu 37 9 139815644 139815644 + Missense_Mutation SNP G G A TCGA-DQ-7588-01A-11D-2078-08 TCGA-DQ-7588-10B-01D-2078-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 6aad9b01-6a99-4f21-955f-7938af25a188 2805f3b2-5a20-4124-a730-3bb6ea20ffc0 g.chr9:139815644G>A uc010nbu.2 + 10 1288 c.1115G>A c.(1114-1116)CGC>CAC p.R372H TRAF2_uc004cjv.2_Missense_Mutation_p.R372H|TRAF2_uc011mek.1_Missense_Mutation_p.R361H|TRAF2_uc010nbw.2_Missense_Mutation_p.R347H NM_021138 NP_066961 Q12933 TRAF2_HUMAN TNF receptor-associated factor 2 372 MATH. activation of caspase activity|activation of NF-kappaB-inducing kinase activity|activation of pro-apoptotic gene products|cellular protein complex assembly|induction of apoptosis by extracellular signals|positive regulation of interleukin-2 production|positive regulation of JUN kinase activity|positive regulation of NF-kappaB transcription factor activity|positive regulation of T cell cytokine production|protein autoubiquitination|protein homotrimerization|protein K63-linked ubiquitination|tumor necrosis factor-mediated signaling pathway CD40 receptor complex|cytosol|internal side of plasma membrane CD40 receptor binding|enzyme binding|protein binding|signal transducer activity|sphingolipid binding|ubiquitin-protein ligase activity|zinc ion binding ovary(1)|lung(1)|breast(1)|skin(1) 4 all_cancers(76;0.11) Myeloproliferative disorder(178;0.0511) STAD - Stomach adenocarcinoma(284;0.229) OV - Ovarian serous cystadenocarcinoma(145;4.48e-06)|Epithelial(140;9.55e-06) GTGGCTGGCCGCATACCCGCC 0.592 NA 4 63 0 0 0 0 PLCXD1 55344 broad.mit.edu 37 X 208211 208211 + Missense_Mutation SNP G G A TCGA-DQ-7588-01A-11D-2078-08 TCGA-DQ-7588-10B-01D-2078-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 6aad9b01-6a99-4f21-955f-7938af25a188 2805f3b2-5a20-4124-a730-3bb6ea20ffc0 g.chrX:208211G>A uc004cpc.2 + 5 751 c.439G>A c.(439-441)GAG>AAG p.E147K PLCXD1_uc011mgx.1_RNA NM_018390 NP_060860 Q9NUJ7 PLCX1_HUMAN phosphatidylinositol-specific phospholipase C, X 147 PI-PLC X-box. intracellular signal transduction|lipid metabolic process phospholipase C activity 0 all_cancers(21;4.28e-07)|all_epithelial(21;2.07e-08)|all_lung(23;2.81e-05)|Lung NSC(23;0.000693)|Lung SC(21;0.122) GCATCCACGCGAGGTGGTCAT 0.607 NA 16 46 0 0 0 0 GUCY2F 2986 broad.mit.edu 37 X 108641866 108641866 + Missense_Mutation SNP A A C rs113612238 TCGA-DQ-7588-01A-11D-2078-08 TCGA-DQ-7588-10B-01D-2078-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 6aad9b01-6a99-4f21-955f-7938af25a188 2805f3b2-5a20-4124-a730-3bb6ea20ffc0 g.chrX:108641866A>C uc004eod.3 - 11 2463 c.2187T>G c.(2185-2187)TTT>TTG p.F729L GUCY2F_uc011msq.1_RNA NM_001522 NP_001513 P51841 GUC2F_HUMAN guanylate cyclase 2F precursor 729 Protein kinase.|Cytoplasmic (Potential). intracellular signal transduction|receptor guanylyl cyclase signaling pathway|visual perception integral to plasma membrane|nuclear outer membrane ATP binding|GTP binding|guanylate cyclase activity|protein kinase activity|receptor activity lung(4)|breast(3)|central_nervous_system(1) 8 CATCTCCTGCAAAAGAACCTA 0.502 NA 25 11 0 0 0 0 FMR1 2332 broad.mit.edu 37 X 147014272 147014272 + Missense_Mutation SNP G G T TCGA-DQ-7588-01A-11D-2078-08 TCGA-DQ-7588-10B-01D-2078-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 6aad9b01-6a99-4f21-955f-7938af25a188 2805f3b2-5a20-4124-a730-3bb6ea20ffc0 g.chrX:147014272G>T uc010nst.2 + 9 1059 c.870G>T c.(868-870)AGG>AGT p.R290S FMR1_uc011mwz.1_Missense_Mutation_p.R290S|FMR1_uc004fcj.2_Missense_Mutation_p.R290S|FMR1_uc004fck.3_Missense_Mutation_p.R290S|FMR1_uc004fcl.3_Missense_Mutation_p.R151S|FMR1_uc011mxa.1_5'UTR NM_002024 NP_002015 Q06787 FMR1_HUMAN fragile X mental retardation 1 290 KH 2. mRNA transport|negative regulation of translational initiation cytoplasm|mRNA cap binding complex|nucleolus|nucleoplasm|soluble fraction mRNA binding|protein binding ovary(2)|pancreas(1) 3 Acute lymphoblastic leukemia(192;6.56e-05) AAGTTCCAAGGAACTTAGTAG 0.318 NA Fragile_X_syndrome 6 38 0.00116845 0.00121353 1 0 IPO8 10526 broad.mit.edu 37 12 30787082 30787082 + Frame_Shift_Del DEL A A - TCGA-DQ-7588-01A-11D-2078-08 TCGA-DQ-7588-10B-01D-2078-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 6aad9b01-6a99-4f21-955f-7938af25a188 2805f3b2-5a20-4124-a730-3bb6ea20ffc0 g.chr12:30787082delA uc001rjd.2 - 23 3004 c.2834delT c.(2833-2835)TTCfs p.F945fs IPO8_uc001rje.1_Frame_Shift_Del_p.F434fs|IPO8_uc010sjt.1_Frame_Shift_Del_p.F740fs NM_006390 NP_006381 O15397 IPO8_HUMAN importin 8 945 intracellular protein transport|signal transduction cytoplasm|nucleus protein transporter activity|Ran GTPase binding skin(2)|central_nervous_system(1) 3 all_lung(12;6.66e-10)|Lung NSC(12;4.84e-08)|Acute lymphoblastic leukemia(23;0.0122)|all_hematologic(23;0.0355)|Lung SC(12;0.0905)|Esophageal squamous(101;0.233) TGGAGTACTGAACCCCTCAAG 0.413 NA 28 38 --- --- --- --- NA NA NA NA GPR172B 55065 broad.mit.edu 37 17 4936879 4936880 + Frame_Shift_Ins INS - - T TCGA-DQ-7588-01A-11D-2078-08 TCGA-DQ-7588-10B-01D-2078-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 6aad9b01-6a99-4f21-955f-7938af25a188 2805f3b2-5a20-4124-a730-3bb6ea20ffc0 g.chr17:4936879_4936880insT uc002gap.3 - 3 1617_1618 c.904_905insA c.(904-906)AGCfs p.S302fs GPR172B_uc002gao.3_Frame_Shift_Ins_p.S302fs|GPR172B_uc010ckw.2_Frame_Shift_Ins_p.S180fs|GPR172B_uc010ckx.2_Frame_Shift_Ins_p.S302fs NM_001104577 NP_001098047 Q9NWF4 RFT_HUMAN G protein-coupled receptor 172B precursor 302 integral to plasma membrane receptor activity|riboflavin transporter activity 0 ACAGGAAAAGCTCTGCACAGAA 0.644 NA 19 28 --- --- --- --- NA NA NA NA TP53 7157 broad.mit.edu 37 17 7578398 7578398 + Frame_Shift_Del DEL G G - rs68130327 TCGA-DQ-7588-01A-11D-2078-08 TCGA-DQ-7588-10B-01D-2078-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 6aad9b01-6a99-4f21-955f-7938af25a188 2805f3b2-5a20-4124-a730-3bb6ea20ffc0 g.chr17:7578398delG uc002gim.2 - 5 726 c.532delC c.(532-534)CACfs p.H178fs TP53_uc002gig.1_Frame_Shift_Del_p.H178fs|TP53_uc002gih.2_Frame_Shift_Del_p.H178fs|TP53_uc010cne.1_5'Flank|TP53_uc010cnf.1_Frame_Shift_Del_p.H46fs|TP53_uc010cng.1_Frame_Shift_Del_p.H46fs|TP53_uc002gii.1_Frame_Shift_Del_p.H46fs|TP53_uc010cnh.1_Frame_Shift_Del_p.H178fs|TP53_uc010cni.1_Frame_Shift_Del_p.H178fs|TP53_uc002gij.2_Frame_Shift_Del_p.H178fs|TP53_uc010cnj.1_RNA|TP53_uc002gin.2_Frame_Shift_Del_p.H85fs|TP53_uc002gio.2_Frame_Shift_Del_p.H46fs|TP53_uc010vug.1_Frame_Shift_Del_p.H139fs NM_001126112 NP_001119584 P04637 P53_HUMAN tumor protein p53 isoform a 178 Required for interaction with FBXO42.||Interaction with HIPK1 (By similarity).|Interaction with AXIN1 (By similarity). H -> L (in a sporadic cancer; somatic mutation).|H -> Y (in sporadic cancers; somatic mutation).|H -> P (in sporadic cancers; somatic mutation).|HH -> QS (in a sporadic cancer; somatic mutation).|H -> Q (in sporadic cancers; somatic mutation).|H -> N (in sporadic cancers; somatic mutation).|H -> HPHP (in a Burkitt lymphoma).|H -> D (in sporadic cancers; somatic mutation).|H -> R (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.H178fs*69(13)|p.P177_C182delPHHERC(8)|p.H178Y(8)|p.0?(7)|p.H178P(6)|p.H178fs*3(5)|p.H178Q(5)|p.H178D(4)|p.C176_R181delCPHHER(3)|p.R174fs*24(3)|p.R175_E180delRCPHHE(3)|p.H178N(3)|p.P177fs*3(2)|p.V173fs*59(2)|p.R174fs*1(2)|p.H178H(2)|p.K164_P219del(1)|p.C176fs*65(1)|p.V173fs*69(1)|p.C176fs*68(1)|p.P177_H179delPHH(1)|p.V173fs*23(1)|p.R174_H178>S(1)|p.V172_E180delVVRRCPHHE(1)|p.R174_H179delRRCPHH(1)|p.E171fs*1(1)|p.P177fs*69(1)|p.R175_H178>X(1)|p.H178_H179>QY(1)|p.H168fs*69(1)|p.E171_H179delEVVRRCPHH(1)|p.R81fs*24(1)|p.H178del(1)|p.R174_E180>K(1)|p.H178fs*6(1)|p.P177_E180delPHHE(1)|p.R42fs*24(1)|p.H178L(1)|p.R174fs*3(1)|p.E171fs*61(1) large_intestine(4656)|breast(2429)|upper_aerodigestive_tract(2212)|lung(2028)|ovary(1592)|oesophagus(1462)|haematopoietic_and_lymphoid_tissue(1228)|stomach(1136)|urinary_tract(1114)|central_nervous_system(1085)|liver(805)|skin(694)|pancreas(375)|biliary_tract(247)|soft_tissue(209)|prostate(194)|endometrium(150)|bone(102)|vulva(79)|kidney(79)|cervix(68)|thyroid(54)|salivary_gland(43)|adrenal_gland(37)|peritoneum(33)|eye(24)|thymus(21)|genital_tract(16)|autonomic_ganglia(16)|small_intestine(14)|testis(11)|penis(10)|vagina(6)|meninges(5)|pituitary(4)|pleura(3)|gastrointestinal_tract_(site_indeterminate)(1)|NS(1)|Fallopian tube(1)|placenta(1) 22245 all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081) GBM - Glioblastoma multiforme(2;1.59e-06)|READ - Rectum adenocarcinoma(115;0.174) CGCTCATGGTGGGGGCAGCGC 0.642 111 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) 23 22 --- --- --- --- NA NA NA NA SIPA1L3 23094 broad.mit.edu 37 19 38590721 38590721 + Frame_Shift_Del DEL C C - TCGA-DQ-7588-01A-11D-2078-08 TCGA-DQ-7588-10B-01D-2078-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 6aad9b01-6a99-4f21-955f-7938af25a188 2805f3b2-5a20-4124-a730-3bb6ea20ffc0 g.chr19:38590721delC uc002ohk.2 + 5 2294 c.1785delC c.(1783-1785)ATCfs p.I595fs NM_015073 NP_055888 O60292 SI1L3_HUMAN signal-induced proliferation-associated 1 like 595 regulation of small GTPase mediated signal transduction intracellular GTPase activator activity ovary(1)|central_nervous_system(1) 2 Lung(45;0.000246)|LUSC - Lung squamous cell carcinoma(53;0.000292) AGCTCAACATCCACTGCCTGC 0.642 NA 36 35 --- --- --- --- NA NA NA NA PLSCR4 57088 broad.mit.edu 37 3 145913053 145913053 + Frame_Shift_Del DEL C C - TCGA-DQ-7588-01A-11D-2078-08 TCGA-DQ-7588-10B-01D-2078-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 6aad9b01-6a99-4f21-955f-7938af25a188 2805f3b2-5a20-4124-a730-3bb6ea20ffc0 g.chr3:145913053delC uc010huy.2 - 8 1132 c.803delG c.(802-804)GGCfs p.G268fs PLSCR4_uc010huz.2_Frame_Shift_Del_p.G268fs|PLSCR4_uc003evt.3_Frame_Shift_Del_p.G268fs|PLSCR4_uc010hva.2_Frame_Shift_Del_p.G178fs|PLSCR4_uc003evu.3_Frame_Shift_Del_p.G163fs NM_001128305 NP_001121777 Q9NRQ2 PLS4_HUMAN phospholipid scramblase 4 isoform a 268 Cytoplasmic (By similarity). blood coagulation|phospholipid scrambling integral to membrane calcium ion binding|phospholipid scramblase activity|SH3 domain binding 0 GTTGGATATGCCATCAAGGGA 0.398 NA 36 38 --- --- --- --- NA NA NA NA CDO1 1036 broad.mit.edu 37 5 115148957 115148958 + Splice_Site INS - - A TCGA-DQ-7588-01A-11D-2078-08 TCGA-DQ-7588-10B-01D-2078-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 6aad9b01-6a99-4f21-955f-7938af25a188 2805f3b2-5a20-4124-a730-3bb6ea20ffc0 g.chr5:115148957_115148958insA uc003krg.2 - 2 482 c.171_splice c.e2-1 p.R57_splice NM_001801 NP_001792 Q16878 CDO1_HUMAN cysteine dioxygenase inflammatory response|sulfur amino acid biosynthetic process|taurine biosynthetic process cytosol cysteine dioxygenase activity large_intestine(1)|skin(1) 2 all_cancers(142;0.0046)|all_epithelial(76;0.000161)|Prostate(80;0.0132)|Ovarian(225;0.0776) OV - Ovarian serous cystadenocarcinoma(64;7.8e-08)|Epithelial(69;7.32e-07)|all cancers(49;3.24e-05) L-Cysteine(DB00151)|NADH(DB00157) CGGGTATACCTAAAAAAAAACA 0.332 NA 8 21 --- --- --- --- NA NA NA NA LGI3 203190 broad.mit.edu 37 8 22013886 22013889 + Frame_Shift_Del DEL GCCT GCCT - TCGA-DQ-7588-01A-11D-2078-08 TCGA-DQ-7588-10B-01D-2078-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 6aad9b01-6a99-4f21-955f-7938af25a188 2805f3b2-5a20-4124-a730-3bb6ea20ffc0 g.chr8:22013886_22013889delGCCT uc003xav.2 - 1 456_459 c.167_170delAGGC c.(166-171)AAGGCGfs p.K56fs SFTPC_uc003xaw.3_5'Flank|LGI3_uc010ltu.2_Frame_Shift_Del_p.K56fs NM_139278 NP_644807 Q8N145 LGI3_HUMAN leucine-rich repeat LGI family, member 3 56_57 LRRNT. exocytosis cell junction|extracellular region|synaptic vesicle|synaptosome ovary(1) 1 Colorectal(74;0.00189)|COAD - Colon adenocarcinoma(73;0.0612)|READ - Rectum adenocarcinoma(644;0.0999) CCTGGGCACCGCCTTTGAGTCCAC 0.672 NA 8 23 --- --- --- --- NA NA NA NA