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 MAN1C1 57134 broad.mit.edu 37 1 25944551 25944551 + Missense_Mutation SNP C C T TCGA-CV-7406-01A-11D-2078-08 TCGA-CV-7406-10A-01D-2078-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 8c9effa8-acb6-4db0-874a-8f0df386924c b00b903e-f57c-4c6c-b6b8-ae40489e6167 g.chr1:25944551C>T uc001bkm.2 + 1 593 c.263C>T c.(262-264)GCG>GTG p.A88V MAN1C1_uc009vry.1_5'UTR NM_020379 NP_065112 Q9NR34 MA1C1_HUMAN mannosidase, alpha, class 1C, member 1 88 Lumenal (Potential). post-translational protein modification|protein N-linked glycosylation via asparagine integral to Golgi membrane calcium ion binding|mannosyl-oligosaccharide 1,2-alpha-mannosidase activity skin(1) 1 Colorectal(325;3.78e-05)|Lung NSC(340;0.000181)|all_lung(284;0.000245)|Renal(390;0.000714)|Ovarian(437;0.00159)|Breast(348;0.0156)|Myeloproliferative disorder(586;0.0257)|all_neural(195;0.0515)|Esophageal squamous(538;0.232) UCEC - Uterine corpus endometrioid carcinoma (279;0.0574)|OV - Ovarian serous cystadenocarcinoma(117;2.46e-25)|Colorectal(126;1.15e-07)|COAD - Colon adenocarcinoma(152;4.31e-06)|STAD - Stomach adenocarcinoma(196;0.00125)|BRCA - Breast invasive adenocarcinoma(304;0.00141)|KIRC - Kidney renal clear cell carcinoma(1967;0.00146)|GBM - Glioblastoma multiforme(114;0.0149)|READ - Rectum adenocarcinoma(331;0.0803) gcccccgccgcgccggccccg 0.642 NA 4 7 0 0 0 0 ZCCHC11 23318 broad.mit.edu 37 1 52911973 52911973 + Missense_Mutation SNP C C G TCGA-CV-7406-01A-11D-2078-08 TCGA-CV-7406-10A-01D-2078-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 8c9effa8-acb6-4db0-874a-8f0df386924c b00b903e-f57c-4c6c-b6b8-ae40489e6167 g.chr1:52911973C>G uc001ctx.2 - 22 3889 c.3655G>C c.(3655-3657)GAG>CAG p.E1219Q ZCCHC11_uc001cty.2_Missense_Mutation_p.E1219Q|ZCCHC11_uc001ctz.2_Missense_Mutation_p.E1219Q|ZCCHC11_uc009vze.1_Missense_Mutation_p.E1219Q|ZCCHC11_uc009vzf.1_Missense_Mutation_p.E940Q|ZCCHC11_uc001cua.1_Missense_Mutation_p.E136Q NM_015269 NP_056084 Q5TAX3 TUT4_HUMAN zinc finger, CCHC domain containing 11 isoform 1219 PAP-associated 2. miRNA catabolic process|pre-miRNA processing|RNA 3'-end processing|stem cell maintenance cytoplasm|nucleolus nucleic acid binding|protein binding|protein binding|RNA uridylyltransferase activity|zinc ion binding ovary(2)|skin(1) 3 CACTGCTTCTCAAAAGTTGTC 0.393 NA 25 67 0 0 0 0 LRRC42 115353 broad.mit.edu 37 1 54423865 54423865 + Silent SNP C C A TCGA-CV-7406-01A-11D-2078-08 TCGA-CV-7406-10A-01D-2078-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 8c9effa8-acb6-4db0-874a-8f0df386924c b00b903e-f57c-4c6c-b6b8-ae40489e6167 g.chr1:54423865C>A uc001cwj.1 + 3 717 c.517C>A c.(517-519)CGG>AGG p.R173R LRRC42_uc001cwl.1_Silent_p.R173R|LRRC42_uc001cwk.1_Silent_p.R173R|LRRC42_uc009vzm.1_Silent_p.R173R NM_052940 NP_443172 Q9Y546 LRC42_HUMAN leucine rich repeat containing 42 173 0 TAAGTCTTTCCGGGAGCTGAC 0.468 NA 8 53 0.000274275 0.000284182 1 0 CLCA2 9635 broad.mit.edu 37 1 86919185 86919185 + Silent SNP G G T TCGA-CV-7406-01A-11D-2078-08 TCGA-CV-7406-10A-01D-2078-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 8c9effa8-acb6-4db0-874a-8f0df386924c b00b903e-f57c-4c6c-b6b8-ae40489e6167 g.chr1:86919185G>T uc001dlr.3 + 13 2451 c.2289G>T c.(2287-2289)GTG>GTT p.V763V NM_006536 NP_006527 Q9UQC9 CLCA2_HUMAN chloride channel accessory 2 precursor 763 Extracellular (Potential). cell adhesion basal plasma membrane|cell junction|extracellular region|integral to plasma membrane chloride channel activity ovary(1)|breast(1)|skin(1) 3 Lung NSC(277;0.238) all cancers(265;0.0233)|Epithelial(280;0.0452) ACCCTGATGTGTTTCCACCAT 0.517 NA 22 61 1.11e-12 1.19e-12 1 0 GBP1 2633 broad.mit.edu 37 1 89525943 89525944 + Missense_Mutation DNP GT GT TG TCGA-CV-7406-01A-11D-2078-08 TCGA-CV-7406-10A-01D-2078-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 8c9effa8-acb6-4db0-874a-8f0df386924c b00b903e-f57c-4c6c-b6b8-ae40489e6167 g.chr1:89525943_89525944GT>TG uc001dmx.2 - 3 474_475 c.254_255AC>CA c.(253-255)CAC>CCA p.H85P NM_002053 NP_002044 P32455 GBP1_HUMAN guanylate binding protein 1, 85 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) GCTTCTTGGGGTGGGGCACACA 0.564 NA 11 93 0 0 0 0 COPA 1314 broad.mit.edu 37 1 160303419 160303419 + Nonsense_Mutation SNP C C T TCGA-CV-7406-01A-11D-2078-08 TCGA-CV-7406-10A-01D-2078-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 8c9effa8-acb6-4db0-874a-8f0df386924c b00b903e-f57c-4c6c-b6b8-ae40489e6167 g.chr1:160303419C>T uc009wti.2 - 5 754 c.360G>A c.(358-360)TGG>TGA p.W120* COPA_uc001fvv.3_Nonsense_Mutation_p.W120*|COPA_uc009wtj.1_Nonsense_Mutation_p.W66* NM_004371 NP_004362 P53621 COPA_HUMAN coatomer protein complex, subunit alpha isoform 120 WD 3. 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) ATTGCCAGTTCCACACTCGGA 0.413 NA 22 44 0 0 0 0 F5 2153 broad.mit.edu 37 1 169525915 169525915 + Silent SNP G G A TCGA-CV-7406-01A-11D-2078-08 TCGA-CV-7406-10A-01D-2078-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 8c9effa8-acb6-4db0-874a-8f0df386924c b00b903e-f57c-4c6c-b6b8-ae40489e6167 g.chr1:169525915G>A uc001ggg.1 - 6 1066 c.921C>T c.(919-921)ATC>ATT p.I307I F5_uc010plr.1_RNA NM_000130 NP_000121 P12259 FA5_HUMAN coagulation factor V precursor 307 F5/8 type A 1.|Plastocyanin-like 2. cell adhesion|platelet activation|platelet degranulation plasma membrane|platelet alpha granule lumen copper ion binding|oxidoreductase activity ovary(3)|large_intestine(1)|central_nervous_system(1)|skin(1) 6 all_hematologic(923;0.208) Drotrecogin alfa(DB00055) GAGAAGATATGATCCACTTTC 0.483 NA 11 50 0 0 0 0 C1orf129 80133 broad.mit.edu 37 1 170959143 170959143 + Missense_Mutation SNP G G A TCGA-CV-7406-01A-11D-2078-08 TCGA-CV-7406-10A-01D-2078-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 8c9effa8-acb6-4db0-874a-8f0df386924c b00b903e-f57c-4c6c-b6b8-ae40489e6167 g.chr1:170959143G>A uc001ghg.2 + 11 1157 c.1027G>A c.(1027-1029)GAC>AAC p.D343N C1orf129_uc009wvy.2_Missense_Mutation_p.D150N|C1orf129_uc010plz.1_Missense_Mutation_p.D343N NM_025063 NP_079339 Q5TGP6 CA129_HUMAN hypothetical protein LOC80133 isoform 2 343 binding pancreas(1) 1 all_hematologic(923;0.0922)|Acute lymphoblastic leukemia(37;0.181) TCCAGCAGACGAGTAAGGCCC 0.488 NA 6 22 0 0 0 0 TOR3A 64222 broad.mit.edu 37 1 179063234 179063234 + Silent SNP C C T TCGA-CV-7406-01A-11D-2078-08 TCGA-CV-7406-10A-01D-2078-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 8c9effa8-acb6-4db0-874a-8f0df386924c b00b903e-f57c-4c6c-b6b8-ae40489e6167 g.chr1:179063234C>T uc001gmd.2 + 5 977 c.825C>T c.(823-825)CTC>CTT p.L275L TOR3A_uc010pnd.1_Silent_p.L59L NM_022371 NP_071766 Q9H497 TOR3A_HUMAN torsin family 3, member A precursor 275 chaperone mediated protein folding requiring cofactor endoplasmic reticulum ATP binding pancreas(1) 1 TCAGTAATCTCAGGGGCGATA 0.463 NA 17 71 0 0 0 0 DHX9 1660 broad.mit.edu 37 1 182835672 182835672 + Missense_Mutation SNP G G A TCGA-CV-7406-01A-11D-2078-08 TCGA-CV-7406-10A-01D-2078-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 8c9effa8-acb6-4db0-874a-8f0df386924c b00b903e-f57c-4c6c-b6b8-ae40489e6167 g.chr1:182835672G>A uc001gpr.2 + 13 1589 c.1426G>A c.(1426-1428)GAG>AAG p.E476K DHX9_uc001gps.2_Missense_Mutation_p.E262K NM_001357 NP_001348 Q08211 DHX9_HUMAN DEAH (Asp-Glu-Ala-His) box polypeptide 9 476 Helicase ATP-binding. CRD-mediated mRNA stabilization|nuclear mRNA splicing, via spliceosome centrosome|CRD-mediated mRNA stability complex|nucleolus|nucleoplasm|ribonucleoprotein complex ATP binding|ATP-dependent DNA helicase activity|ATP-dependent RNA helicase activity|DNA binding|double-stranded RNA binding|protein binding ovary(2) 2 CGTTCGATTTGAGTCTATACT 0.428 NA 57 151 0 0 0 0 B3GALNT2 148789 broad.mit.edu 37 1 235634193 235634193 + Missense_Mutation SNP C C A TCGA-CV-7406-01A-11D-2078-08 TCGA-CV-7406-10A-01D-2078-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 8c9effa8-acb6-4db0-874a-8f0df386924c b00b903e-f57c-4c6c-b6b8-ae40489e6167 g.chr1:235634193C>A uc001hxc.2 - 6 962 c.733G>T c.(733-735)GAT>TAT p.D245Y B3GALNT2_uc001hxd.1_Missense_Mutation_p.D286Y NM_152490 NP_689703 Q8NCR0 B3GL2_HUMAN beta-1,3-N-acetylgalactosaminyltransferase 2 245 Lumenal (Potential). protein glycosylation Golgi membrane|integral to membrane galactosyltransferase activity breast(1) 1 Ovarian(103;0.0634)|Breast(184;0.23) all_cancers(173;0.0539)|Prostate(94;0.0353) OV - Ovarian serous cystadenocarcinoma(106;0.000117) CCCCCTCCATCATTCACTGTC 0.358 NA 29 74 2.46e-21 2.67e-21 1 0 SCCPDH 51097 broad.mit.edu 37 1 246927581 246927581 + Missense_Mutation SNP G G A TCGA-CV-7406-01A-11D-2078-08 TCGA-CV-7406-10A-01D-2078-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 8c9effa8-acb6-4db0-874a-8f0df386924c b00b903e-f57c-4c6c-b6b8-ae40489e6167 g.chr1:246927581G>A uc001ibr.2 + 10 1371 c.1024G>A c.(1024-1026)GGT>AGT p.G342S NM_016002 NP_057086 Q8NBX0 SCPDH_HUMAN saccharopine dehydrogenase (putative) 342 midbody binding|saccharopine dehydrogenase (NAD+, L-glutamate-forming) activity ovary(1) 1 all_cancers(71;6.8e-05)|all_epithelial(71;7.93e-06)|Ovarian(71;0.0173)|Breast(184;0.0318)|all_lung(81;0.0545)|Lung NSC(105;0.0618) all_cancers(173;0.0343) OV - Ovarian serous cystadenocarcinoma(106;0.00323) GBM - Glioblastoma multiforme(49;0.0896) GACATTCTTTGGTCAAGGATA 0.408 NA 22 64 0 0 0 0 OR11L1 391189 broad.mit.edu 37 1 248005106 248005106 + Missense_Mutation SNP G G T TCGA-CV-7406-01A-11D-2078-08 TCGA-CV-7406-10A-01D-2078-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 8c9effa8-acb6-4db0-874a-8f0df386924c b00b903e-f57c-4c6c-b6b8-ae40489e6167 g.chr1:248005106G>T uc001idn.1 - 1 93 c.93C>A c.(91-93)TTC>TTA p.F31L NM_001001959 NP_001001959 Q8NGX0 O11L1_HUMAN olfactory receptor, family 11, subfamily L, 31 Helical; Name=1; (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity ovary(1)|pancreas(1)|skin(1) 3 all_cancers(71;8.78e-05)|all_epithelial(71;9.15e-06)|Breast(184;0.0117)|Ovarian(71;0.0377)|all_lung(81;0.0786)|Lung NSC(105;0.0858) OV - Ovarian serous cystadenocarcinoma(106;0.0319) AGATGAGCAGGAAAATGACAA 0.507 NA 11 36 5.51e-06 5.77e-06 1 0 PGBD2 267002 broad.mit.edu 37 1 249211968 249211968 + Missense_Mutation SNP G G T TCGA-CV-7406-01A-11D-2078-08 TCGA-CV-7406-10A-01D-2078-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 8c9effa8-acb6-4db0-874a-8f0df386924c b00b903e-f57c-4c6c-b6b8-ae40489e6167 g.chr1:249211968G>T uc001ifh.2 + 3 1332 c.1185G>T c.(1183-1185)AGG>AGT p.R395S PGBD2_uc001ifg.2_Missense_Mutation_p.R144S|PGBD2_uc009xhd.2_Missense_Mutation_p.R392S NM_170725 NP_733843 Q6P3X8 PGBD2_HUMAN hypothetical protein LOC267002 isoform a 395 ovary(1) 1 all_cancers(71;3.33e-06)|all_epithelial(71;2.41e-06)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.0458)|Lung NSC(105;0.0494)|Melanoma(84;0.199) all_cancers(173;0.012) OV - Ovarian serous cystadenocarcinoma(106;0.00989) AAATGAAGAGGGGTTCATTTG 0.478 NA 21 49 4.35e-09 4.63e-09 1 0 KLF6 1316 broad.mit.edu 37 10 3822362 3822362 + Missense_Mutation SNP C C G TCGA-CV-7406-01A-11D-2078-08 TCGA-CV-7406-10A-01D-2078-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 8c9effa8-acb6-4db0-874a-8f0df386924c b00b903e-f57c-4c6c-b6b8-ae40489e6167 g.chr10:3822362C>G uc001iha.2 - 3 1003 c.736G>C c.(736-738)GAG>CAG p.E246Q KLF6_uc010qaj.1_Intron|KLF6_uc010qak.1_RNA|KLF6_uc010qal.1_Missense_Mutation_p.E204Q NM_001300 NP_001291 Q99612 KLF6_HUMAN Kruppel-like factor 6 isoform A 246 C2H2-type 2. B cell differentiation nucleus zinc ion binding central_nervous_system(3)|lung(1) 4 Colorectal(1;0.238) CTGGTTAACTCATCACTTCTT 0.542 NA 24 80 0 0 0 0 SVIL 6840 broad.mit.edu 37 10 29821993 29821993 + Missense_Mutation SNP C C T TCGA-CV-7406-01A-11D-2078-08 TCGA-CV-7406-10A-01D-2078-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 8c9effa8-acb6-4db0-874a-8f0df386924c b00b903e-f57c-4c6c-b6b8-ae40489e6167 g.chr10:29821993C>T uc001iut.1 - 8 2056 c.1303G>A c.(1303-1305)GAA>AAA p.E435K SVIL_uc001iuu.1_Intron|SVIL_uc009xld.1_Missense_Mutation_p.E435K NM_021738 NP_068506 O95425 SVIL_HUMAN supervillin isoform 2 435 cytoskeleton organization|skeletal muscle tissue development cell junction|costamere|invadopodium|nucleus|podosome actin filament binding ovary(5)|upper_aerodigestive_tract(1) 6 Breast(68;0.103) tcttctccttctccttcccct 0.408 NA 23 22 0 0 0 0 FZD8 8325 broad.mit.edu 37 10 35929479 35929479 + Silent SNP G G A TCGA-CV-7406-01A-11D-2078-08 TCGA-CV-7406-10A-01D-2078-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 8c9effa8-acb6-4db0-874a-8f0df386924c b00b903e-f57c-4c6c-b6b8-ae40489e6167 g.chr10:35929479G>A uc001iyz.1 - 1 884 c.879C>T c.(877-879)TTC>TTT p.F293F NM_031866 NP_114072 Q9H461 FZD8_HUMAN frizzled 8 precursor 293 Helical; Name=1; (Potential). axonogenesis|brain development|canonical Wnt receptor signaling pathway|embryo development|gonad development|T cell differentiation in thymus|vasculature development cell projection|Golgi apparatus|integral to membrane|plasma membrane G-protein coupled receptor activity|PDZ domain binding|Wnt receptor activity|Wnt-protein binding 0 AGACGGTGGCGAAGGTGGACA 0.622 NA 19 26 0 0 0 0 PAX2 5076 broad.mit.edu 37 10 102510539 102510539 + Nonsense_Mutation SNP G G T TCGA-CV-7406-01A-11D-2078-08 TCGA-CV-7406-10A-01D-2078-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 8c9effa8-acb6-4db0-874a-8f0df386924c b00b903e-f57c-4c6c-b6b8-ae40489e6167 g.chr10:102510539G>T uc001krk.3 + 3 851 c.301G>T c.(301-303)GAA>TAA p.E101* PAX2_uc001krl.3_Nonsense_Mutation_p.E101*|PAX2_uc001krm.3_Nonsense_Mutation_p.E101*|PAX2_uc001kro.3_Nonsense_Mutation_p.E101*|PAX2_uc001krn.3_Nonsense_Mutation_p.E101*|PAX2_uc010qps.1_Nonsense_Mutation_p.E100*|PAX2_uc001krp.1_Nonsense_Mutation_p.E105* NM_003990 NP_003981 Q02962 PAX2_HUMAN paired box protein 2 isoform e 101 Paired. anti-apoptosis|axonogenesis|brain morphogenesis|branching involved in ureteric bud morphogenesis|cell fate determination|cellular response to glucose stimulus|cellular response to hydrogen peroxide|cellular response to retinoic acid|cochlea development|glial cell differentiation|inner ear morphogenesis|mesenchymal to epithelial transition involved in metanephros morphogenesis|mesodermal cell fate specification|mesonephros development|metanephric collecting duct development|metanephric distal convoluted tubule development|metanephric mesenchymal cell differentiation|metanephric nephron tubule formation|negative regulation of caspase activity|negative regulation of cytolysis|negative regulation of mesenchymal stem cell apoptosis involved in metanephric nephron morphogenesis|negative regulation of reactive oxygen species metabolic process|negative regulation of transcription, DNA-dependent|nephric duct formation|neural tube closure|optic chiasma development|optic cup morphogenesis involved in camera-type eye development|optic nerve structural organization|positive regulation of branching involved in ureteric bud morphogenesis|positive regulation of epithelial cell proliferation|positive regulation of mesenchymal to epithelial transition involved in metanephros morphogenesis|positive regulation of metanephric DCT cell differentiation|positive regulation of metanephric glomerulus development|positive regulation of optic nerve formation|positive regulation of transcription from RNA polymerase II promoter|pronephric field specification|protein kinase B signaling cascade|reactive oxygen species metabolic process|regulation of metanephric nephron tubule epithelial cell differentiation|regulation of metanephros size|retinal pigment epithelium development|stem cell differentiation|transcription from RNA polymerase II promoter|ureter maturation|vestibulocochlear nerve formation|visual perception centriolar satellite|nucleus|protein complex|protein-DNA complex core promoter proximal region sequence-specific DNA binding|superoxide-generating NADPH oxidase activity 0 Colorectal(252;0.234) Epithelial(162;1.32e-08)|all cancers(201;7.32e-07) CAAGATTGCTGAATACAAACG 0.587 NA 32 35 1.56e-22 1.71e-22 1 0 SFXN4 119559 broad.mit.edu 37 10 120917539 120917539 + Missense_Mutation SNP C C A TCGA-CV-7406-01A-11D-2078-08 TCGA-CV-7406-10A-01D-2078-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 8c9effa8-acb6-4db0-874a-8f0df386924c b00b903e-f57c-4c6c-b6b8-ae40489e6167 g.chr10:120917539C>A uc001leb.2 - 7 441 c.396G>T c.(394-396)AAG>AAT p.K132N SFXN4_uc001ldy.2_Missense_Mutation_p.K16N|SFXN4_uc001ldz.2_Missense_Mutation_p.K16N|SFXN4_uc001lea.2_RNA NM_213649 NP_998814 Q6P4A7 SFXN4_HUMAN sideroflexin 4 132 iron ion homeostasis integral to membrane|mitochondrial membrane cation transmembrane transporter activity ovary(1) 1 Lung NSC(174;0.094)|all_lung(145;0.123) all cancers(201;0.0261) AAATCACGGACTTGATCCCTT 0.428 NA 8 52 5.49e-09 5.82e-09 1 0 SFXN4 119559 broad.mit.edu 37 10 120917544 120917544 + Missense_Mutation SNP T T A TCGA-CV-7406-01A-11D-2078-08 TCGA-CV-7406-10A-01D-2078-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 8c9effa8-acb6-4db0-874a-8f0df386924c b00b903e-f57c-4c6c-b6b8-ae40489e6167 g.chr10:120917544T>A uc001leb.2 - 7 436 c.391A>T c.(391-393)ATC>TTC p.I131F SFXN4_uc001ldy.2_Missense_Mutation_p.I15F|SFXN4_uc001ldz.2_Missense_Mutation_p.I15F|SFXN4_uc001lea.2_RNA NM_213649 NP_998814 Q6P4A7 SFXN4_HUMAN sideroflexin 4 131 Helical; (Potential). iron ion homeostasis integral to membrane|mitochondrial membrane cation transmembrane transporter activity ovary(1) 1 Lung NSC(174;0.094)|all_lung(145;0.123) all cancers(201;0.0261) ACGGACTTGATCCCTTTCAGT 0.418 NA 8 48 0 0 0 0 OR52A4 390053 broad.mit.edu 37 11 5142643 5142643 + Missense_Mutation SNP C C T TCGA-CV-7406-01A-11D-2078-08 TCGA-CV-7406-10A-01D-2078-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 8c9effa8-acb6-4db0-874a-8f0df386924c b00b903e-f57c-4c6c-b6b8-ae40489e6167 g.chr11:5142643C>T uc001lzz.1 - 1 166 c.166G>A c.(166-168)GAG>AAG p.E56K OR52A4_uc001maa.2_RNA NM_001005222 NP_001005222 olfactory receptor, family 52, subfamily A, ovary(2) 2 Medulloblastoma(188;0.0049)|all_neural(188;0.0442)|Breast(177;0.0675) Epithelial(150;1.7e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)|LUSC - Lung squamous cell carcinoma(625;0.2) AGGCTTGGCTCAGATTTGATG 0.428 NA 20 48 0 0 0 0 HBE1 3046 broad.mit.edu 37 11 5290881 5290881 + Missense_Mutation SNP G G T TCGA-CV-7406-01A-11D-2078-08 TCGA-CV-7406-10A-01D-2078-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 8c9effa8-acb6-4db0-874a-8f0df386924c b00b903e-f57c-4c6c-b6b8-ae40489e6167 g.chr11:5290881G>T uc001mal.1 - 2 371 c.118C>A c.(118-120)CAG>AAG p.Q40K HBG2_uc001mak.1_Intron|HBE1_uc001mam.1_Missense_Mutation_p.Q40K NM_005330 NP_005321 P02100 HBE_HUMAN epsilon globin 40 blood coagulation hemoglobin complex heme binding|oxygen binding|oxygen transporter activity 0 Medulloblastoma(188;0.00225)|Breast(177;0.0155)|all_neural(188;0.0212) Epithelial(150;1.34e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135) AAAAATCTCTGGGTCCAGGGG 0.463 NA 17 41 4.75e-09 5.05e-09 1 0 CYB5R2 51700 broad.mit.edu 37 11 7689018 7689018 + Missense_Mutation SNP G G A rs149733078 TCGA-CV-7406-01A-11D-2078-08 TCGA-CV-7406-10A-01D-2078-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 8c9effa8-acb6-4db0-874a-8f0df386924c b00b903e-f57c-4c6c-b6b8-ae40489e6167 g.chr11:7689018G>A uc001mfm.2 - 7 737 c.499C>T c.(499-501)CGC>TGC p.R167C CYB5R2_uc001mfn.2_RNA|CYB5R2_uc009yfk.2_Missense_Mutation_p.R167C NM_016229 NP_057313 Q6BCY4 NB5R2_HUMAN cytochrome b5 reductase b5R.2 167 FAD (By similarity). sterol biosynthetic process membrane|soluble fraction cytochrome-b5 reductase activity 0 Epithelial(150;5.48e-08)|BRCA - Breast invasive adenocarcinoma(625;0.189) GTGATGTGGCGAATGAGCTGC 0.552 NA 19 68 0 0 0 0 CD44 960 broad.mit.edu 37 11 35223298 35223298 + Missense_Mutation SNP C C T TCGA-CV-7406-01A-11D-2078-08 TCGA-CV-7406-10A-01D-2078-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 8c9effa8-acb6-4db0-874a-8f0df386924c b00b903e-f57c-4c6c-b6b8-ae40489e6167 g.chr11:35223298C>T uc001mvu.2 + 9 1551 c.1117C>T c.(1117-1119)CAT>TAT p.H373Y CD44_uc001mvv.2_Missense_Mutation_p.H330Y|CD44_uc001mvw.2_Intron|CD44_uc001mvx.2_Intron|CD44_uc001mvy.2_Intron|CD44_uc001mwc.3_Intron|CD44_uc010rer.1_Intron|CD44_uc009ykh.2_Intron|CD44_uc010res.1_Intron|CD44_uc010ret.1_Intron|CD44_uc010reu.1_Intron NM_000610 NP_000601 P16070 CD44_HUMAN CD44 antigen isoform 1 precursor 373 Extracellular (Potential).|Stem. cell-cell adhesion|cell-matrix adhesion|interferon-gamma-mediated signaling pathway|negative regulation of apoptosis|negative regulation of DNA damage response, signal transduction by p53 class mediator|positive regulation of ERK1 and ERK2 cascade|positive regulation of peptidyl-serine phosphorylation|positive regulation of peptidyl-tyrosine phosphorylation cell surface|Golgi apparatus|integral to plasma membrane collagen binding|hyaluronic acid binding|receptor activity pancreas(1) 1 all_cancers(35;0.212)|all_lung(20;0.0874)|all_epithelial(35;0.112) all_hematologic(20;0.107) STAD - Stomach adenocarcinoma(6;0.00731) Hyaluronidase(DB00070) CCATGAGCATCATGAGGAAGA 0.463 NA 4 31 0 0 0 0 OR5D16 390144 broad.mit.edu 37 11 55606668 55606668 + Silent SNP G G A TCGA-CV-7406-01A-11D-2078-08 TCGA-CV-7406-10A-01D-2078-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 8c9effa8-acb6-4db0-874a-8f0df386924c b00b903e-f57c-4c6c-b6b8-ae40489e6167 g.chr11:55606668G>A uc010rio.1 + 1 441 c.441G>A c.(439-441)GTG>GTA p.V147V NM_001005496 NP_001005496 Q8NGK9 OR5DG_HUMAN olfactory receptor, family 5, subfamily D, 147 Helical; Name=4; (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity ovary(4)|skin(1) 5 all_epithelial(135;0.208) CCATGCTGGTGGTTGTATTGT 0.448 NA 20 54 0 0 0 0 ENDOD1 23052 broad.mit.edu 37 11 94861543 94861543 + Silent SNP C C T TCGA-CV-7406-01A-11D-2078-08 TCGA-CV-7406-10A-01D-2078-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 8c9effa8-acb6-4db0-874a-8f0df386924c b00b903e-f57c-4c6c-b6b8-ae40489e6167 g.chr11:94861543C>T uc001pfh.2 + 2 378 c.303C>T c.(301-303)ATC>ATT p.I101I NM_015036 NP_055851 O94919 ENDD1_HUMAN endonuclease domain containing 1 precursor 101 extracellular region endonuclease activity|metal ion binding|nucleic acid binding 0 Acute lymphoblastic leukemia(157;2.33e-05)|all_hematologic(158;0.00824) TCTTGCAGATCGATGACCCCA 0.517 NA 5 20 0 0 0 0 MMP8 4317 broad.mit.edu 37 11 102593222 102593222 + Silent SNP G G A TCGA-CV-7406-01A-11D-2078-08 TCGA-CV-7406-10A-01D-2078-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 8c9effa8-acb6-4db0-874a-8f0df386924c b00b903e-f57c-4c6c-b6b8-ae40489e6167 g.chr11:102593222G>A uc001phe.2 - 2 384 c.285C>T c.(283-285)GAC>GAT p.D95D MMP8_uc010rut.1_Silent_p.D30D|MMP8_uc010ruu.1_Silent_p.D72D NM_002424 NP_002415 P22894 MMP8_HUMAN matrix metalloproteinase 8 preproprotein 95 Cysteine switch (By similarity). collagen catabolic process|proteolysis extracellular space|proteinaceous extracellular matrix metalloendopeptidase activity|serine-type endopeptidase activity|zinc ion binding ovary(3)|breast(1) 4 all_cancers(8;0.00092)|all_epithelial(12;0.00389)|Lung NSC(15;0.227) all_hematologic(158;0.00092)|Acute lymphoblastic leukemia(157;0.000967) Epithelial(9;0.0555)|Lung(13;0.0828)|LUSC - Lung squamous cell carcinoma(19;0.151)|all cancers(10;0.189) BRCA - Breast invasive adenocarcinoma(274;0.0141) AACCACCACTGTCAGGCACTC 0.433 NA 26 21 0 0 0 0 C3AR1 719 broad.mit.edu 37 12 8212581 8212581 + Silent SNP C C T TCGA-CV-7406-01A-11D-2078-08 TCGA-CV-7406-10A-01D-2078-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 8c9effa8-acb6-4db0-874a-8f0df386924c b00b903e-f57c-4c6c-b6b8-ae40489e6167 g.chr12:8212581C>T uc001qtv.1 - 2 293 c.201G>A c.(199-201)GCG>GCA p.A67A NM_004054 NP_004045 Q16581 C3AR_HUMAN complement component 3a receptor 1 67 Helical; Name=2; (Potential). blood circulation|chemotaxis|elevation of cytosolic calcium ion concentration|inflammatory response integral to plasma membrane C3a anaphylatoxin receptor activity|complement component C3a receptor activity|phosphatidylinositol phospholipase C activity ovary(1) 1 Kidney(36;0.0893) AGAGGAGGTCCGCCAAGGTGA 0.592 NA 8 65 0 0 0 0 AICDA 57379 broad.mit.edu 37 12 8758041 8758041 + Missense_Mutation SNP G G A TCGA-CV-7406-01A-11D-2078-08 TCGA-CV-7406-10A-01D-2078-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 8c9effa8-acb6-4db0-874a-8f0df386924c b00b903e-f57c-4c6c-b6b8-ae40489e6167 g.chr12:8758041G>A uc001qur.2 - 3 276 c.197C>T c.(196-198)TCG>TTG p.S66L AICDA_uc001qup.1_Missense_Mutation_p.S61L|AICDA_uc001quq.1_Missense_Mutation_p.S61L|AICDA_uc009zgd.1_Intron NM_020661 NP_065712 Q9GZX7 AICDA_HUMAN activation-induced cytidine deaminase 66 B cell differentiation|DNA demethylation|mRNA processing|negative regulation of methylation-dependent chromatin silencing cytoplasm cytidine deaminase activity|protein binding|zinc ion binding ovary(1)|pancreas(1) 2 Lung SC(5;0.184) GTCCCAGTCCGAGATGTAGCG 0.587 NA Immune_Deficiency_with_Hyper-IgM 17 126 0 0 0 0 PRB2 653247 broad.mit.edu 37 12 11546807 11546807 + Missense_Mutation SNP G G C TCGA-CV-7406-01A-11D-2078-08 TCGA-CV-7406-10A-01D-2078-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 8c9effa8-acb6-4db0-874a-8f0df386924c b00b903e-f57c-4c6c-b6b8-ae40489e6167 g.chr12:11546807G>C uc010shk.1 - 3 240 c.205C>G c.(205-207)CAA>GAA p.Q69E NM_006248 NP_006239 proline-rich protein BstNI subfamily 2 0 all_cancers(2;0.00558)|Acute lymphoblastic leukemia(2;3.94e-11)|all_hematologic(2;3.6e-09) OV - Ovarian serous cystadenocarcinoma(49;0.185) GGGGGACCTTGAGGCTGGTTG 0.607 NA 67 485 0 0 0 0 PTPRO 5800 broad.mit.edu 37 12 15742398 15742398 + Silent SNP G G A TCGA-CV-7406-01A-11D-2078-08 TCGA-CV-7406-10A-01D-2078-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 8c9effa8-acb6-4db0-874a-8f0df386924c b00b903e-f57c-4c6c-b6b8-ae40489e6167 g.chr12:15742398G>A uc001rcv.1 + 25 3594 c.3420G>A c.(3418-3420)GTG>GTA p.V1140V PTPRO_uc001rcw.1_Silent_p.V1112V|PTPRO_uc001rcx.1_Silent_p.V329V|PTPRO_uc001rcy.1_Silent_p.V329V|PTPRO_uc001rcz.1_Silent_p.V301V|PTPRO_uc001rda.1_Silent_p.V301V NM_030667 NP_109592 Q16827 PTPRO_HUMAN receptor-type protein tyrosine phosphatase O 1140 Cytoplasmic (Potential).|Tyrosine-protein phosphatase.|Substrate binding (By similarity). integral to plasma membrane protein binding|transmembrane receptor protein tyrosine phosphatase activity skin(5)|ovary(2)|upper_aerodigestive_tract(1)|lung(1) 9 Hepatocellular(102;0.244) GTGCTGGCGTGGGACGGACAG 0.413 NA 37 102 0 0 0 0 ADAMTS20 80070 broad.mit.edu 37 12 43847849 43847849 + Missense_Mutation SNP G G T TCGA-CV-7406-01A-11D-2078-08 TCGA-CV-7406-10A-01D-2078-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 8c9effa8-acb6-4db0-874a-8f0df386924c b00b903e-f57c-4c6c-b6b8-ae40489e6167 g.chr12:43847849G>T uc010skx.1 - 12 1621 c.1621C>A c.(1621-1623)CGT>AGT p.R541S NM_025003 NP_079279 P59510 ATS20_HUMAN a disintegrin-like and metalloprotease with 541 Disintegrin. proteinaceous extracellular matrix zinc ion binding central_nervous_system(5)|ovary(4)|lung(3)|large_intestine(2)|skin(2)|urinary_tract(1)|kidney(1)|pancreas(1) 19 all_cancers(12;2.6e-05)|Lung SC(27;0.184) Lung NSC(34;0.0569)|all_lung(34;0.129) GBM - Glioblastoma multiforme(48;0.0473) AGCCCATGACGGCAATGCTAT 0.368 NA 8 27 0.00448238 0.00459191 1 0 SPRYD3 84926 broad.mit.edu 37 12 53470909 53470909 + Missense_Mutation SNP C C T TCGA-CV-7406-01A-11D-2078-08 TCGA-CV-7406-10A-01D-2078-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 8c9effa8-acb6-4db0-874a-8f0df386924c b00b903e-f57c-4c6c-b6b8-ae40489e6167 g.chr12:53470909C>T uc001sbt.1 - 2 181 c.160G>A c.(160-162)GAT>AAT p.D54N SPRYD3_uc010snw.1_5'UTR NM_032840 NP_116229 Q8NCJ5 SPRY3_HUMAN SPRY domain containing 3 54 B30.2/SPRY. central_nervous_system(1) 1 CTTAAAGTATCTCCATCTACA 0.428 NA 22 61 0 0 0 0 STAT6 6778 broad.mit.edu 37 12 57492348 57492348 + Missense_Mutation SNP A A G TCGA-CV-7406-01A-11D-2078-08 TCGA-CV-7406-10A-01D-2078-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 8c9effa8-acb6-4db0-874a-8f0df386924c b00b903e-f57c-4c6c-b6b8-ae40489e6167 g.chr12:57492348A>G uc009zpe.2 - 19 2350 c.2099T>C c.(2098-2100)ATC>ACC p.I700T STAT6_uc009zpf.2_Missense_Mutation_p.I700T|STAT6_uc001sna.2_Missense_Mutation_p.I700T|STAT6_uc010srb.1_Missense_Mutation_p.I590T|STAT6_uc010src.1_Missense_Mutation_p.I590T|STAT6_uc010srd.1_Missense_Mutation_p.I590T|STAT6_uc009zpg.2_Missense_Mutation_p.I749T NM_003153 NP_003144 P42226 STAT6_HUMAN signal transducer and activator of transcription 700 regulation of transcription from RNA polymerase II promoter cytosol|nucleus calcium ion binding|DNA binding|protein binding|sequence-specific DNA binding transcription factor activity|signal transducer activity ovary(2)|lung(1)|skin(1) 4 ATACGGGGGGATGGAGTGAGA 0.547 NA 4 72 0 0 0 0 PIP4K2C 79837 broad.mit.edu 37 12 57994655 57994655 + Missense_Mutation SNP G G A TCGA-CV-7406-01A-11D-2078-08 TCGA-CV-7406-10A-01D-2078-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 8c9effa8-acb6-4db0-874a-8f0df386924c b00b903e-f57c-4c6c-b6b8-ae40489e6167 g.chr12:57994655G>A uc001sou.2 + 8 1006 c.875G>A c.(874-876)CGG>CAG p.R292Q PIP4K2C_uc001sot.2_Missense_Mutation_p.R292Q|PIP4K2C_uc010srs.1_Missense_Mutation_p.R274Q|PIP4K2C_uc010srt.1_Missense_Mutation_p.R244Q NM_001146258 NP_001139730 Q8TBX8 PI42C_HUMAN phosphatidylinositol-5-phosphate 4-kinase, type 292 PIPK. cytoplasm|membrane 1-phosphatidylinositol-5-phosphate 4-kinase activity|ATP binding|identical protein binding central_nervous_system(2)|lung(1) 3 Melanoma(17;0.122) GACATCATTCGGGGCTCTGAA 0.562 NA 71 151 0 0 0 0 NEDD1 121441 broad.mit.edu 37 12 97345265 97345265 + Missense_Mutation SNP C C T TCGA-CV-7406-01A-11D-2078-08 TCGA-CV-7406-10A-01D-2078-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 8c9effa8-acb6-4db0-874a-8f0df386924c b00b903e-f57c-4c6c-b6b8-ae40489e6167 g.chr12:97345265C>T uc001teu.3 + 15 2206 c.1867C>T c.(1867-1869)CAT>TAT p.H623Y NEDD1_uc001tev.3_Missense_Mutation_p.H623Y|NEDD1_uc010svc.1_Missense_Mutation_p.H534Y|NEDD1_uc001tew.2_Missense_Mutation_p.H630Y|NEDD1_uc001tex.2_Missense_Mutation_p.H534Y NM_152905 NP_690869 Q8NHV4 NEDD1_HUMAN neural precursor cell expressed, developmentally 623 cell division|G2/M transition of mitotic cell cycle|mitosis cytosol 0 TAAACAGTTTCATATGCAACT 0.274 NA 10 30 0 0 0 0 TCP11L2 255394 broad.mit.edu 37 12 106708240 106708240 + Nonsense_Mutation SNP C C T TCGA-CV-7406-01A-11D-2078-08 TCGA-CV-7406-10A-01D-2078-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 8c9effa8-acb6-4db0-874a-8f0df386924c b00b903e-f57c-4c6c-b6b8-ae40489e6167 g.chr12:106708240C>T uc001tln.2 + 3 436 c.262C>T c.(262-264)CAA>TAA p.Q88* TCP11L2_uc001tll.2_Nonsense_Mutation_p.Q88*|TCP11L2_uc001tlm.2_Nonsense_Mutation_p.Q88* NM_152772 NP_689985 Q8N4U5 T11L2_HUMAN t-complex 11 (mouse) like 2 88 ovary(3) 3 TGAGAACTTTCAATTGAAACA 0.353 NA 10 44 0 0 0 0 MMP17 4326 broad.mit.edu 37 12 132325377 132325377 + Missense_Mutation SNP G G A TCGA-CV-7406-01A-11D-2078-08 TCGA-CV-7406-10A-01D-2078-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 8c9effa8-acb6-4db0-874a-8f0df386924c b00b903e-f57c-4c6c-b6b8-ae40489e6167 g.chr12:132325377G>A uc001ujc.1 + 4 781 c.682G>A c.(682-684)GAG>AAG p.E228K MMP17_uc001ujd.1_Missense_Mutation_p.E144K NM_016155 NP_057239 Q9ULZ9 MMP17_HUMAN matrix metalloproteinase 17 preproprotein 228 proteolysis anchored to membrane|integral to plasma membrane|proteinaceous extracellular matrix calcium ion binding|enzyme activator activity|metalloendopeptidase activity|zinc ion binding 0 all_neural(191;0.0982)|Medulloblastoma(191;0.163) OV - Ovarian serous cystadenocarcinoma(86;1.82e-07)|Epithelial(86;1.51e-06)|all cancers(50;2.35e-05) TGACGATGACGAGGCCTGGAC 0.711 NA 7 21 0 0 0 0 STARD13 90627 broad.mit.edu 37 13 33684190 33684190 + Missense_Mutation SNP G G A TCGA-CV-7406-01A-11D-2078-08 TCGA-CV-7406-10A-01D-2078-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 8c9effa8-acb6-4db0-874a-8f0df386924c b00b903e-f57c-4c6c-b6b8-ae40489e6167 g.chr13:33684190G>A uc001uuw.2 - 12 2993 c.2867C>T c.(2866-2868)TCT>TTT p.S956F STARD13_uc001uuu.2_Missense_Mutation_p.S948F|STARD13_uc001uuv.2_Missense_Mutation_p.S838F|STARD13_uc001uux.2_Missense_Mutation_p.S921F|STARD13_uc010tec.1_RNA NM_178006 NP_821074 Q9Y3M8 STA13_HUMAN StAR-related lipid transfer (START) domain 956 START. regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction cytosol|lipid particle|mitochondrial membrane GTPase activator activity|protein binding ovary(2)|pancreas(1)|skin(1) 4 all_epithelial(80;0.155) Lung SC(185;0.0367) all cancers(112;1.31e-05)|Epithelial(112;0.000142)|BRCA - Breast invasive adenocarcinoma(63;0.00936)|OV - Ovarian serous cystadenocarcinoma(117;0.0533)|Lung(94;0.143)|GBM - Glioblastoma multiforme(144;0.143) CACCTCCACAGAAGCCTTCCA 0.562 NA OREG0022359 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 9 21 0 0 0 0 HTR2A 3356 broad.mit.edu 37 13 47469754 47469754 + Missense_Mutation SNP G G C TCGA-CV-7406-01A-11D-2078-08 TCGA-CV-7406-10A-01D-2078-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 8c9effa8-acb6-4db0-874a-8f0df386924c b00b903e-f57c-4c6c-b6b8-ae40489e6167 g.chr13:47469754G>C uc001vbq.2 - 1 422 c.288C>G c.(286-288)ATC>ATG p.I96M HTR2A_uc001vbr.2_Intron|HTR2A_uc010acr.2_Missense_Mutation_p.I96M NM_000621 NP_000612 P28223 5HT2A_HUMAN 5-hydroxytryptamine receptor 2A isoform 1 96 Helical; Name=1; (By similarity). ERK1 and ERK2 cascade|phosphatidylinositol 3-kinase cascade|phosphatidylinositol biosynthetic process|release of sequestered calcium ion into cytosol|response to drug|synaptic transmission integral to plasma membrane 1-(4-iodo-2,5-dimethoxyphenyl)propan-2-amine binding|drug binding|phosphatidylinositol phospholipase C activity|serotonin binding|serotonin receptor activity ovary(3)|upper_aerodigestive_tract(1)|central_nervous_system(1)|skin(1) 6 all_lung(13;7.2e-10)|Lung NSC(96;3.77e-07)|Breast(56;2.06e-05)|Prostate(109;0.00116)|Hepatocellular(98;0.0207)|Lung SC(185;0.0262)|Myeloproliferative disorder(33;0.0333) GBM - Glioblastoma multiforme(144;4.67e-05)|COAD - Colon adenocarcinoma(199;0.224) Aripiprazole(DB01238)|Chlorpromazine(DB00477)|Chlorprothixene(DB01239)|Cisapride(DB00604)|Clomipramine(DB01242)|Clozapine(DB00363)|Cyclobenzaprine(DB00924)|Cyproheptadine(DB00434)|Dihydroergotamine(DB00320)|Donepezil(DB00843)|Epinastine(DB00751)|Ergotamine(DB00696)|Fluvoxamine(DB00176)|Mesoridazine(DB00933)|Methysergide(DB00247)|Mianserin(DB06148)|Minaprine(DB00805)|Mirtazapine(DB00370)|Nefazodone(DB01149)|Olanzapine(DB00334)|Paliperidone(DB01267)|Paroxetine(DB00715)|Prochlorperazine(DB00433)|Promazine(DB00420)|Promethazine(DB01069)|Propiomazine(DB00777)|Quetiapine(DB01224)|Risperidone(DB00734)|Sertindole(DB06144)|Thiethylperazine(DB00372)|Thioridazine(DB00679)|Tranylcypromine(DB00752)|Trazodone(DB00656)|Venlafaxine(DB00285)|Ziprasidone(DB00246) ACACTGCCATGATGACGAGTA 0.458 NA 20 29 0 0 0 0 PCDH9 5101 broad.mit.edu 37 13 67801807 67801807 + Nonsense_Mutation SNP G G A TCGA-CV-7406-01A-11D-2078-08 TCGA-CV-7406-10A-01D-2078-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 8c9effa8-acb6-4db0-874a-8f0df386924c b00b903e-f57c-4c6c-b6b8-ae40489e6167 g.chr13:67801807G>A uc001vik.2 - 2 1458 c.766C>T c.(766-768)CAA>TAA p.Q256* PCDH9_uc001vil.2_Nonsense_Mutation_p.Q256*|PCDH9_uc010thl.1_Nonsense_Mutation_p.Q256*|PCDH9_uc001vin.3_Nonsense_Mutation_p.Q256* NM_203487 NP_982354 Q9HC56 PCDH9_HUMAN protocadherin 9 isoform 1 precursor 256 Extracellular (Potential).|Cadherin 3. homophilic cell adhesion integral to membrane|plasma membrane calcium ion binding ovary(4)|pancreas(1)|skin(1) 6 Hepatocellular(98;0.0906)|Breast(118;0.107) GBM - Glioblastoma multiforme(99;0.00819) ACCTCCACTTGACCCTCTTTA 0.473 NA 24 34 0 0 0 0 GNPNAT1 64841 broad.mit.edu 37 14 53251317 53251317 + Missense_Mutation SNP C C T TCGA-CV-7406-01A-11D-2078-08 TCGA-CV-7406-10A-01D-2078-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 8c9effa8-acb6-4db0-874a-8f0df386924c b00b903e-f57c-4c6c-b6b8-ae40489e6167 g.chr14:53251317C>T uc001xab.2 - 2 307 c.52G>A c.(52-54)GAC>AAC p.D18N NM_198066 NP_932332 Q96EK6 GNA1_HUMAN glucosamine-phosphate N-acetyltransferase 1 18 dolichol-linked oligosaccharide biosynthetic process|post-translational protein modification|protein N-linked glycosylation via asparagine|UDP-N-acetylglucosamine biosynthetic process cytosol|endosome membrane|Golgi membrane glucosamine 6-phosphate N-acetyltransferase activity 0 Breast(41;0.176) TGACTCCAGTCCACTTCTTTG 0.373 NA 139 15 0 0 0 0 DIO2 1734 broad.mit.edu 37 14 80669404 80669404 + Silent SNP G G A TCGA-CV-7406-01A-11D-2078-08 TCGA-CV-7406-10A-01D-2078-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 8c9effa8-acb6-4db0-874a-8f0df386924c b00b903e-f57c-4c6c-b6b8-ae40489e6167 g.chr14:80669404G>A uc010tvq.1 - 4 852 c.450C>T c.(448-450)TTC>TTT p.F150F DIO2_uc010tvp.1_Silent_p.F186F|DIO2_uc001xut.2_RNA|DIO2_uc010asx.2_3'UTR|DIO2_uc010tvr.1_Silent_p.F150F|DIO2_uc010asy.2_3'UTR NM_000793 NP_000784 Q92813 IOD2_HUMAN deiodinase, iodothyronine, type II isoform a 150 hormone biosynthetic process|selenocysteine incorporation|thyroid hormone generation integral to membrane|plasma membrane thyroxine 5'-deiodinase activity|ubiquitin protein ligase binding central_nervous_system(1) 1 BRCA - Breast invasive adenocarcinoma(234;0.0281) CCACTGAGGAGAACTCTTCCA 0.557 NA OREG0022848 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 7 15 0 0 0 0 GPR65 8477 broad.mit.edu 37 14 88477470 88477470 + Silent SNP C C T TCGA-CV-7406-01A-11D-2078-08 TCGA-CV-7406-10A-01D-2078-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 8c9effa8-acb6-4db0-874a-8f0df386924c b00b903e-f57c-4c6c-b6b8-ae40489e6167 g.chr14:88477470C>T uc001xvv.2 + 2 809 c.279C>T c.(277-279)CTC>CTT p.L93L NM_003608 NP_003599 Q8IYL9 PSYR_HUMAN G protein-coupled receptor 65 93 Helical; Name=3; (Potential). actin cytoskeleton reorganization|activation of Rho GTPase activity|apoptosis|immune response|multicellular organismal development|positive regulation of cAMP biosynthetic process|positive regulation of stress fiber assembly|response to acidity integral to plasma membrane G-protein coupled receptor activity 0 GTGCTTTTCTCATGTACATGA 0.403 NA 52 97 0 0 0 0 BTBD7 55727 broad.mit.edu 37 14 93709138 93709138 + Silent SNP G G A TCGA-CV-7406-01A-11D-2078-08 TCGA-CV-7406-10A-01D-2078-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 8c9effa8-acb6-4db0-874a-8f0df386924c b00b903e-f57c-4c6c-b6b8-ae40489e6167 g.chr14:93709138G>A uc001ybo.2 - 11 3206 c.2880C>T c.(2878-2880)CTC>CTT p.L960L BTBD7_uc010aur.2_Silent_p.L485L|BTBD7_uc010two.1_Silent_p.L780L|BTBD7_uc001ybp.2_Silent_p.L609L NM_001002860 NP_001002860 Q9P203 BTBD7_HUMAN BTB (POZ) domain containing 7 isoform 1 960 pancreas(1) 1 all_cancers(154;0.08) Epithelial(152;0.196)|COAD - Colon adenocarcinoma(157;0.212)|all cancers(159;0.223) TGCGTCTGCTGAGAGCAGGAG 0.478 NA 24 34 0 0 0 0 MGA 23269 broad.mit.edu 37 15 42019556 42019556 + Silent SNP C C T TCGA-CV-7406-01A-11D-2078-08 TCGA-CV-7406-10A-01D-2078-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 8c9effa8-acb6-4db0-874a-8f0df386924c b00b903e-f57c-4c6c-b6b8-ae40489e6167 g.chr15:42019556C>T uc010ucy.1 + 10 3790 c.3609C>T c.(3607-3609)CTC>CTT p.L1203L MGA_uc010ucz.1_Silent_p.L1203L NM_001164273 NP_001157745 Q8IWI9 MGAP_HUMAN MAX-interacting protein isoform 1 1203 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) GCAAACTGCTCACTGGAATTA 0.403 NA 43 118 0 0 0 0 PKM2 5315 broad.mit.edu 37 15 72502754 72502754 + Silent SNP G G A TCGA-CV-7406-01A-11D-2078-08 TCGA-CV-7406-10A-01D-2078-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 8c9effa8-acb6-4db0-874a-8f0df386924c b00b903e-f57c-4c6c-b6b8-ae40489e6167 g.chr15:72502754G>A uc002atx.1 - 4 553 c.312C>T c.(310-312)CTC>CTT p.L104L PKM2_uc002att.1_5'Flank|PKM2_uc002atu.1_5'Flank|PKM2_uc010bit.1_Silent_p.L109L|PKM2_uc010uki.1_Silent_p.L178L|PKM2_uc002atv.1_Silent_p.L139L|PKM2_uc002atw.1_Silent_p.L104L|PKM2_uc002aty.1_Silent_p.L104L|PKM2_uc010ukj.1_Silent_p.L89L|PKM2_uc010ukk.1_Intron|PKM2_uc010biu.1_Silent_p.L125L|PKM2_uc002atz.1_RNA NM_182471 NP_872271 P14618 KPYM_HUMAN pyruvate kinase, muscle isoform M1 104 glycolysis|programmed cell death cytosol|nucleus|plasma membrane ATP binding|magnesium ion binding|potassium ion binding|protein binding|pyruvate kinase activity breast(1) 1 Pyruvic acid(DB00119) CGGGCCGGTAGAGGATGGGGT 0.562 NA 59 44 0 0 0 0 NEIL1 79661 broad.mit.edu 37 15 75641389 75641389 + Missense_Mutation SNP C C T TCGA-CV-7406-01A-11D-2078-08 TCGA-CV-7406-10A-01D-2078-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 8c9effa8-acb6-4db0-874a-8f0df386924c b00b903e-f57c-4c6c-b6b8-ae40489e6167 g.chr15:75641389C>T uc002bad.2 + 2 649 c.143C>T c.(142-144)TCA>TTA p.S48L NEIL1_uc002bae.2_Missense_Mutation_p.S134L NM_024608 NP_078884 Q96FI4 NEIL1_HUMAN nei endonuclease VIII-like 1 48 base-excision repair|negative regulation of nuclease activity|nucleotide-excision repair|response to oxidative stress cytoplasm|nucleus damaged DNA binding|DNA-(apurinic or apyrimidinic site) lyase activity|protein C-terminus binding|zinc ion binding ovary(1) 1 TACCGCATCTCAGCTTCAGCC 0.657 NA BER_DNA_glycosylases 40 18 0 0 0 0 TTC23 64927 broad.mit.edu 37 15 99758831 99758831 + Nonsense_Mutation SNP C C T TCGA-CV-7406-01A-11D-2078-08 TCGA-CV-7406-10A-01D-2078-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 8c9effa8-acb6-4db0-874a-8f0df386924c b00b903e-f57c-4c6c-b6b8-ae40489e6167 g.chr15:99758831C>T uc002bur.2 - 7 1074 c.543G>A c.(541-543)TGG>TGA p.W181* TTC23_uc002bus.2_Nonsense_Mutation_p.W181*|TTC23_uc002but.2_Nonsense_Mutation_p.W181*|TTC23_uc002buu.2_Nonsense_Mutation_p.W181*|TTC23_uc002buv.2_Nonsense_Mutation_p.W181*|TTC23_uc002bux.2_Nonsense_Mutation_p.W181*|TTC23_uc002buw.2_Nonsense_Mutation_p.W181*|TTC23_uc010boq.2_RNA|TTC23_uc002buy.2_Nonsense_Mutation_p.W181*|TTC23_uc010bor.2_Nonsense_Mutation_p.W181*|TTC23_uc002buz.2_Nonsense_Mutation_p.W181* NM_022905 NP_075056 Q5W5X9 TTC23_HUMAN tetratricopeptide repeat domain 23 181 binding 0 all_cancers(4;1.49e-13)|Lung NSC(78;0.000545)|all_lung(78;0.00121)|Melanoma(26;0.00505)|Medulloblastoma(229;0.163) all cancers(5;8.11e-09)|OV - Ovarian serous cystadenocarcinoma(32;0.00215) CAATTTCTATCCATTCTTCCT 0.383 NA 90 62 0 0 0 0 ABCA3 21 broad.mit.edu 37 16 2376270 2376270 + Silent SNP C C T TCGA-CV-7406-01A-11D-2078-08 TCGA-CV-7406-10A-01D-2078-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 8c9effa8-acb6-4db0-874a-8f0df386924c b00b903e-f57c-4c6c-b6b8-ae40489e6167 g.chr16:2376270C>T uc002cpy.1 - 5 772 c.60G>A c.(58-60)CGG>CGA p.R20R ABCA3_uc010bsk.1_Silent_p.R20R|ABCA3_uc010bsl.1_Silent_p.R20R|ABCA3_uc002cpz.1_Silent_p.R20R NM_001089 NP_001080 Q99758 ABCA3_HUMAN ATP-binding cassette, sub-family A member 3 20 response to drug integral to membrane|lamellar body|membrane fraction|plasma membrane ATP binding|ATPase activity, coupled to transmembrane movement of substances breast(5)|ovary(5)|central_nervous_system(3)|upper_aerodigestive_tract(1)|lung(1)|skin(1) 16 Ovarian(90;0.17) CCAGGACCTTCCGCTTCTGGA 0.567 NA 44 25 0 0 0 0 NLRC3 197358 broad.mit.edu 37 16 3614473 3614473 + Silent SNP C C T TCGA-CV-7406-01A-11D-2078-08 TCGA-CV-7406-10A-01D-2078-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 8c9effa8-acb6-4db0-874a-8f0df386924c b00b903e-f57c-4c6c-b6b8-ae40489e6167 g.chr16:3614473C>T uc010btn.2 - 5 876 c.465G>A c.(463-465)GTG>GTA p.V155V NM_178844 NP_849172 Q7RTR2 NLRC3_HUMAN NOD3 protein 155 NACHT. I-kappaB kinase/NF-kappaB cascade|negative regulation of NF-kappaB transcription factor activity|T cell activation cytoplasm ATP binding ovary(2)|pancreas(2)|central_nervous_system(1)|skin(1) 6 CGAAGTGCCTCACCAGGGTGG 0.657 NA 32 13 0 0 0 0 PRR14 78994 broad.mit.edu 37 16 30665567 30665567 + Missense_Mutation SNP A A G TCGA-CV-7406-01A-11D-2078-08 TCGA-CV-7406-10A-01D-2078-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 8c9effa8-acb6-4db0-874a-8f0df386924c b00b903e-f57c-4c6c-b6b8-ae40489e6167 g.chr16:30665567A>G uc002dyy.2 + 7 823 c.565A>G c.(565-567)ATA>GTA p.I189V PRR14_uc002dyz.2_Missense_Mutation_p.I34V|PRR14_uc002dza.2_Missense_Mutation_p.I189V|PRR14_uc002dzb.1_Missense_Mutation_p.I3V NM_024031 NP_076936 Q9BWN1 PRR14_HUMAN proline rich 14 189 Pro-rich. 0 Colorectal(24;0.103) GCCCATGAGGATAGTTCGCCA 0.582 NA 15 239 0 0 0 0 CDH16 1014 broad.mit.edu 37 16 66945110 66945110 + Silent SNP C C G rs148829305 TCGA-CV-7406-01A-11D-2078-08 TCGA-CV-7406-10A-01D-2078-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 8c9effa8-acb6-4db0-874a-8f0df386924c b00b903e-f57c-4c6c-b6b8-ae40489e6167 g.chr16:66945110C>G uc002eql.2 - 14 1972 c.1899G>C c.(1897-1899)ACG>ACC p.T633T CDH16_uc010cdy.2_Silent_p.T633T|CDH16_uc002eqm.2_Silent_p.T536T NM_004062 NP_004053 O75309 CAD16_HUMAN cadherin 16 precursor 633 Extracellular (Potential).|Cadherin 6. homophilic cell adhesion integral to membrane|plasma membrane calcium ion binding ovary(2)|upper_aerodigestive_tract(1) 3 Ovarian(137;0.0563) OV - Ovarian serous cystadenocarcinoma(108;0.0877)|Epithelial(162;0.203) CCACAAGCACCGTGTAGGTGT 0.612 NA 9 18 0 0 0 0 KIAA0513 9764 broad.mit.edu 37 16 85106591 85106591 + Missense_Mutation SNP G G T TCGA-CV-7406-01A-11D-2078-08 TCGA-CV-7406-10A-01D-2078-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 8c9effa8-acb6-4db0-874a-8f0df386924c b00b903e-f57c-4c6c-b6b8-ae40489e6167 g.chr16:85106591G>T uc002fiu.2 + 4 710 c.490G>T c.(490-492)GTG>TTG p.V164L KIAA0513_uc002fis.3_Missense_Mutation_p.V164L|KIAA0513_uc010voj.1_Missense_Mutation_p.V164L|KIAA0513_uc002fit.2_Missense_Mutation_p.V164L NM_014732 NP_055547 O60268 K0513_HUMAN hypothetical protein LOC9764 164 cytoplasm breast(1) 1 BRCA - Breast invasive adenocarcinoma(80;0.234) GTCTTTTGCAGTGGTGCTGTT 0.567 NA 20 65 8.05e-18 8.7e-18 1 0 MED11 400569 broad.mit.edu 37 17 4635163 4635163 + Missense_Mutation SNP G G A TCGA-CV-7406-01A-11D-2078-08 TCGA-CV-7406-10A-01D-2078-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 8c9effa8-acb6-4db0-874a-8f0df386924c b00b903e-f57c-4c6c-b6b8-ae40489e6167 g.chr17:4635163G>A uc002fyp.2 + 2 240 c.178G>A c.(178-180)GAG>AAG p.E60K NM_001001683 NP_001001683 Q9P086 MED11_HUMAN mediator complex subunit 11 60 regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent mediator complex protein binding 0 GCAACACGTGGAGGCGGAGCT 0.607 NA OREG0024104 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 11 20 0 0 0 0 CAMTA2 23125 broad.mit.edu 37 17 4889259 4889259 + Missense_Mutation SNP C C A TCGA-CV-7406-01A-11D-2078-08 TCGA-CV-7406-10A-01D-2078-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 8c9effa8-acb6-4db0-874a-8f0df386924c b00b903e-f57c-4c6c-b6b8-ae40489e6167 g.chr17:4889259C>A uc002gah.1 - 3 159 c.51G>T c.(49-51)AAG>AAT p.K17N CAMTA2_uc010cku.1_Missense_Mutation_p.K40N|CAMTA2_uc002gag.1_Missense_Mutation_p.K40N|CAMTA2_uc002gai.1_Missense_Mutation_p.K19N|CAMTA2_uc010vsu.1_5'UTR NM_015099 NP_055914 O94983 CMTA2_HUMAN calmodulin binding transcription activator 2 17 cardiac muscle hypertrophy in response to stress|positive regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent nucleus calmodulin binding|chromatin binding|histone deacetylase binding|transcription factor binding ovary(1) 1 GGAGAAAGATCTTCAGGTGGT 0.537 NA 26 41 4.6e-10 4.91e-10 1 0 NLRP1 22861 broad.mit.edu 37 17 5440230 5440230 + Missense_Mutation SNP C C T TCGA-CV-7406-01A-11D-2078-08 TCGA-CV-7406-10A-01D-2078-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 8c9effa8-acb6-4db0-874a-8f0df386924c b00b903e-f57c-4c6c-b6b8-ae40489e6167 g.chr17:5440230C>T uc002gci.2 - 8 3456 c.2901G>A c.(2899-2901)ATG>ATA p.M967I NLRP1_uc002gcg.1_Missense_Mutation_p.M967I|NLRP1_uc002gck.2_Missense_Mutation_p.M967I|NLRP1_uc002gcj.2_Intron|NLRP1_uc002gcl.2_Intron|NLRP1_uc002gch.3_Missense_Mutation_p.M967I|NLRP1_uc010clh.2_Missense_Mutation_p.M967I NM_033004 NP_127497 Q9C000 NALP1_HUMAN NLR family, pyrin domain containing 1 isoform 1 967 LRR 6. defense response to bacterium|induction of apoptosis|neuron apoptosis|positive regulation of interleukin-1 beta secretion|response to muramyl dipeptide cytoplasm|NALP1 inflammasome complex|nucleus ATP binding|caspase activator activity|enzyme binding|protein domain specific binding lung(4)|breast(2)|ovary(1)|central_nervous_system(1)|skin(1) 9 Colorectal(1115;3.48e-05) GTTCCTGCCTCATCTCATCAC 0.622 NA 14 26 0 0 0 0 SLC13A5 284111 broad.mit.edu 37 17 6599185 6599185 + Missense_Mutation SNP C C A TCGA-CV-7406-01A-11D-2078-08 TCGA-CV-7406-10A-01D-2078-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 8c9effa8-acb6-4db0-874a-8f0df386924c b00b903e-f57c-4c6c-b6b8-ae40489e6167 g.chr17:6599185C>A uc002gdj.2 - 7 1003 c.915G>T c.(913-915)GAG>GAT p.E305D SLC13A5_uc010vtf.1_Missense_Mutation_p.E305D|SLC13A5_uc010clq.2_Missense_Mutation_p.E262D|SLC13A5_uc002gdk.2_Missense_Mutation_p.E288D|SLC13A5_uc002gdl.1_Missense_Mutation_p.E287D NM_177550 NP_808218 Q86YT5 S13A5_HUMAN solute carrier family 13, member 5 isoform a 305 integral to membrane citrate transmembrane transporter activity 0 GCTTCCGGTACTCCTCCTGCA 0.557 NA 33 84 3.21e-22 3.5e-22 1 0 C17orf81 23587 broad.mit.edu 37 17 7156110 7156110 + Missense_Mutation SNP G G A TCGA-CV-7406-01A-11D-2078-08 TCGA-CV-7406-10A-01D-2078-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 8c9effa8-acb6-4db0-874a-8f0df386924c b00b903e-f57c-4c6c-b6b8-ae40489e6167 g.chr17:7156110G>A uc002gfg.1 + 3 223 c.116G>A c.(115-117)CGC>CAC p.R39H DULLARD_uc002gfd.2_5'Flank|DULLARD_uc002gfe.2_5'Flank|DULLARD_uc002gff.2_5'Flank|DULLARD_uc002gfc.2_5'Flank|C17orf81_uc002gfj.2_Missense_Mutation_p.R39H|C17orf81_uc010cmb.2_Missense_Mutation_p.R39H|C17orf81_uc002gfh.1_Missense_Mutation_p.R39H|C17orf81_uc002gfi.1_Missense_Mutation_p.R39H|C17orf81_uc002gfk.1_Missense_Mutation_p.R39H|C17orf81_uc002gfl.1_Missense_Mutation_p.R39H NM_203415 NP_981960 Q8TE02 DERP6_HUMAN S-phase 2 protein isoform 4 39 regulation of transcription, DNA-dependent|transcription, DNA-dependent cytoplasm|nucleus protein binding 0 TGGGAGGGGCGCAGTCTCTTG 0.587 NA 3 29 0 0 0 0 ALOXE3 59344 broad.mit.edu 37 17 8006700 8006700 + Missense_Mutation SNP T T C TCGA-CV-7406-01A-11D-2078-08 TCGA-CV-7406-10A-01D-2078-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 8c9effa8-acb6-4db0-874a-8f0df386924c b00b903e-f57c-4c6c-b6b8-ae40489e6167 g.chr17:8006700T>C uc010cnr.2 - 15 2267 c.1897A>G c.(1897-1899)AAC>GAC p.N633D ALOXE3_uc002gka.2_Missense_Mutation_p.N789D|ALOXE3_uc010vuo.1_Missense_Mutation_p.N765D NM_021628 NP_067641 Q9BYJ1 LOXE3_HUMAN arachidonate lipoxygenase 3 isoform 2 633 Lipoxygenase. leukotriene biosynthetic process iron ion binding|lipoxygenase activity skin(3)|lung(1)|central_nervous_system(1) 5 CAGCTGATGTTCACTTCAGGG 0.557 NA 26 44 0 0 0 0 MYH8 4626 broad.mit.edu 37 17 10301955 10301955 + Silent SNP G G A TCGA-CV-7406-01A-11D-2078-08 TCGA-CV-7406-10A-01D-2078-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 8c9effa8-acb6-4db0-874a-8f0df386924c b00b903e-f57c-4c6c-b6b8-ae40489e6167 g.chr17:10301955G>A uc002gmm.2 - 30 4079 c.3984C>T c.(3982-3984)GCC>GCT p.A1328A uc002gml.1_Intron NM_002472 NP_002463 P13535 MYH8_HUMAN myosin, heavy chain 8, skeletal muscle, 1328 Potential. muscle filament sliding cytosol|muscle myosin complex|myofibril|myosin filament actin binding|ATP binding|calmodulin binding|motor activity|structural constituent of muscle skin(6)|ovary(3)|breast(2) 11 GGGCGTTCTTGGCCTGCAGAA 0.507 NA Trismus-Pseudocamptodactyly_Syndrome_with_Cardiac_Myxoma_and_Freckling 30 45 0 0 0 0 DNAH9 1770 broad.mit.edu 37 17 11696943 11696943 + Missense_Mutation SNP G G C TCGA-CV-7406-01A-11D-2078-08 TCGA-CV-7406-10A-01D-2078-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 8c9effa8-acb6-4db0-874a-8f0df386924c b00b903e-f57c-4c6c-b6b8-ae40489e6167 g.chr17:11696943G>C uc002gne.2 + 42 8253 c.8185G>C c.(8185-8187)GAT>CAT p.D2729H DNAH9_uc010coo.2_Missense_Mutation_p.D2023H NM_001372 NP_001363 Q9NYC9 DYH9_HUMAN dynein, axonemal, heavy chain 9 isoform 2 2729 cell projection organization|cellular component movement|microtubule-based movement|spermatogenesis axonemal dynein complex|cilium axoneme|cytoplasm|microtubule ATP binding|ATPase activity|microtubule motor activity skin(10)|ovary(4)|breast(3)|central_nervous_system(2)|pancreas(1) 20 Breast(5;0.0122)|all_epithelial(5;0.131) Colorectal(4;6.88e-05)|COAD - Colon adenocarcinoma(4;0.000813)|READ - Rectum adenocarcinoma(10;0.157) TGATCTTTTTGATAAAATCCA 0.323 NA 13 36 0 0 0 0 LRRC48 83450 broad.mit.edu 37 17 17891328 17891328 + Silent SNP G G A TCGA-CV-7406-01A-11D-2078-08 TCGA-CV-7406-10A-01D-2078-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 8c9effa8-acb6-4db0-874a-8f0df386924c b00b903e-f57c-4c6c-b6b8-ae40489e6167 g.chr17:17891328G>A uc010vxd.1 + 6 739 c.360G>A c.(358-360)CGG>CGA p.R120R LRRC48_uc002gsa.2_Silent_p.R120R|LRRC48_uc010vxc.1_Silent_p.R120R|LRRC48_uc002gsb.2_Silent_p.R120R NM_001130090 NP_001123562 Q9H069 LRC48_HUMAN leucine rich repeat containing 48 isoform a 120 LRR 4. cytoplasm pancreas(1) 1 all_neural(463;0.228) TCAACAACCGGATCTCCAAGA 0.557 NA 4 45 0 0 0 0 PTRF 284119 broad.mit.edu 37 17 40574759 40574759 + Silent SNP G G A TCGA-CV-7406-01A-11D-2078-08 TCGA-CV-7406-10A-01D-2078-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 8c9effa8-acb6-4db0-874a-8f0df386924c b00b903e-f57c-4c6c-b6b8-ae40489e6167 g.chr17:40574759G>A uc002hzo.2 - 1 516 c.357C>T c.(355-357)GTC>GTT p.V119V PTRF_uc010wgi.1_Silent_p.V101V NM_012232 NP_036364 Q6NZI2 PTRF_HUMAN polymerase I and transcript release factor 119 regulation of transcription, DNA-dependent|termination of RNA polymerase I transcription|transcription initiation from RNA polymerase I promoter caveola|cytosol|endoplasmic reticulum|microsome|mitochondrion|nucleoplasm protein binding|rRNA primary transcript binding breast(1) 1 all_cancers(22;0.00146)|Breast(137;0.00116)|all_epithelial(22;0.0134) BRCA - Breast invasive adenocarcinoma(366;0.193) TCTTCACGTTGACGCTGACCT 0.642 NA 3 12 0 0 0 0 TUBG2 27175 broad.mit.edu 37 17 40812702 40812702 + Missense_Mutation SNP G G A TCGA-CV-7406-01A-11D-2078-08 TCGA-CV-7406-10A-01D-2078-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 8c9effa8-acb6-4db0-874a-8f0df386924c b00b903e-f57c-4c6c-b6b8-ae40489e6167 g.chr17:40812702G>A uc010wgr.1 + 4 632 c.376G>A c.(376-378)GCA>ACA p.A126T TUBG2_uc002iaq.2_5'UTR|TUBG2_uc002iar.2_5'UTR|TUBG2_uc002ias.2_5'UTR|TUBG2_uc002iap.2_5'UTR NM_016437 NP_057521 Q9NRH3 TBG2_HUMAN tubulin, gamma 2 126 G2/M transition of mitotic cell cycle|microtubule-based process|protein polymerization cytosol GTP binding|GTPase activity|structural molecule activity ovary(1) 1 Breast(137;0.00116) BRCA - Breast invasive adenocarcinoma(366;0.141) AGACCGAGAAGCAGATGGAAG 0.507 NA 10 11 0 0 0 0 DBF4B 80174 broad.mit.edu 37 17 42786685 42786685 + Silent SNP C C T TCGA-CV-7406-01A-11D-2078-08 TCGA-CV-7406-10A-01D-2078-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 8c9effa8-acb6-4db0-874a-8f0df386924c b00b903e-f57c-4c6c-b6b8-ae40489e6167 g.chr17:42786685C>T uc002ihf.2 + 2 246 c.33C>T c.(31-33)CTC>CTT p.L11L DBF4B_uc002ihd.1_Silent_p.L11L|DBF4B_uc010wjb.1_RNA|DBF4B_uc002ihe.2_5'UTR|DBF4B_uc010wjc.1_5'UTR|DBF4B_uc002ihg.2_5'UTR NM_145663 NP_663696 Q8NFT6 DBF4B_HUMAN DBF4 homolog B isoform 1 11 cell cycle nucleus nucleic acid binding|zinc ion binding 0 Prostate(33;0.0322) ACGATTGCCTCGAGCTGGAGA 0.562 NA 102 244 0 0 0 0 TMC8 147138 broad.mit.edu 37 17 76134712 76134712 + Silent SNP G G A TCGA-CV-7406-01A-11D-2078-08 TCGA-CV-7406-10A-01D-2078-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 8c9effa8-acb6-4db0-874a-8f0df386924c b00b903e-f57c-4c6c-b6b8-ae40489e6167 g.chr17:76134712G>A uc002jup.2 + 14 2104 c.1722G>A c.(1720-1722)GTG>GTA p.V574V TMC8_uc002juq.2_Silent_p.V351V|TMC8_uc002jur.1_Nonsense_Mutation_p.W24* NM_152468 NP_689681 Q8IU68 TMC8_HUMAN transmembrane channel-like 8 574 Lumenal (Potential). endoplasmic reticulum membrane|integral to membrane 0 BRCA - Breast invasive adenocarcinoma(99;0.00269)|Lung(188;0.0973)|OV - Ovarian serous cystadenocarcinoma(97;0.192) CCTGGCAAGTGGTCCCGGAGC 0.657 NA Epidermodysplasia_Verruciformis_Familial_Clustering_of 27 75 0 0 0 0 RPTOR 57521 broad.mit.edu 37 17 78882729 78882729 + Silent SNP G G A TCGA-CV-7406-01A-11D-2078-08 TCGA-CV-7406-10A-01D-2078-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 8c9effa8-acb6-4db0-874a-8f0df386924c b00b903e-f57c-4c6c-b6b8-ae40489e6167 g.chr17:78882729G>A uc002jyt.1 + 21 3325 c.2520G>A c.(2518-2520)AAG>AAA p.K840K RPTOR_uc010wug.1_Silent_p.K682K NM_020761 NP_065812 Q8N122 RPTOR_HUMAN raptor isoform 1 840 cell cycle arrest|cell growth|cellular response to amino acid stimulus|cellular response to nutrient levels|insulin receptor signaling pathway|positive regulation of protein serine/threonine kinase activity|positive regulation of TOR signaling cascade|TOR signaling cascade cytosol|lysosome|TORC1 complex protein complex binding lung(4)|urinary_tract(1)|ovary(1) 6 TCGCCTACAAGGTACGTGCCG 0.587 NA 35 103 0 0 0 0 TBCD 6904 broad.mit.edu 37 17 80863819 80863819 + Silent SNP G G A TCGA-CV-7406-01A-11D-2078-08 TCGA-CV-7406-10A-01D-2078-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 8c9effa8-acb6-4db0-874a-8f0df386924c b00b903e-f57c-4c6c-b6b8-ae40489e6167 g.chr17:80863819G>A uc002kfz.2 + 20 1942 c.1812G>A c.(1810-1812)CCG>CCA p.P604P TBCD_uc002kfx.1_Silent_p.P587P|TBCD_uc002kfy.1_Silent_p.P604P|TBCD_uc002kgb.1_5'UTR NM_005993 NP_005984 Q9BTW9 TBCD_HUMAN beta-tubulin cofactor D 604 HEAT 3. 'de novo' posttranslational protein folding|adherens junction assembly|negative regulation of cell-substrate adhesion|negative regulation of microtubule polymerization|post-chaperonin tubulin folding pathway|tight junction assembly adherens junction|cytoplasm|lateral plasma membrane|microtubule|tight junction beta-tubulin binding|chaperone binding|GTPase activator activity 0 Breast(20;0.000523)|all_neural(118;0.0779) all_cancers(8;0.0266)|all_epithelial(8;0.0696) OV - Ovarian serous cystadenocarcinoma(97;0.0868)|BRCA - Breast invasive adenocarcinoma(99;0.18) CAGTCTTCCCGAGGCTGCTGT 0.607 NA 8 10 0 0 0 0 USP14 9097 broad.mit.edu 37 18 202939 202939 + Silent SNP C C T TCGA-CV-7406-01A-11D-2078-08 TCGA-CV-7406-10A-01D-2078-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 8c9effa8-acb6-4db0-874a-8f0df386924c b00b903e-f57c-4c6c-b6b8-ae40489e6167 g.chr18:202939C>T uc002kkf.1 + 11 1152 c.936C>T c.(934-936)ATC>ATT p.I312I USP14_uc002kkg.1_Silent_p.I277I|USP14_uc010wyr.1_Silent_p.I301I NM_005151 NP_005142 P54578 UBP14_HUMAN ubiquitin specific protease 14 isoform a 312 regulation of chemotaxis|regulation of proteasomal protein catabolic process|ubiquitin-dependent protein catabolic process cell surface|cytoplasmic membrane-bounded vesicle|plasma membrane|proteasome complex cysteine-type endopeptidase activity|endopeptidase inhibitor activity|proteasome binding|tRNA guanylyltransferase activity|ubiquitin thiolesterase activity|ubiquitin-specific protease activity ovary(2) 2 all_cancers(4;0.0896)|Myeloproliferative disorder(11;0.0412) CCTTGTATATCAAATCTGTAA 0.333 NA 11 33 0 0 0 0 DLGAP1 9229 broad.mit.edu 37 18 3880020 3880020 + Missense_Mutation SNP C C T TCGA-CV-7406-01A-11D-2078-08 TCGA-CV-7406-10A-01D-2078-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 8c9effa8-acb6-4db0-874a-8f0df386924c b00b903e-f57c-4c6c-b6b8-ae40489e6167 g.chr18:3880020C>T uc002kmf.2 - 1 116 c.49G>A c.(49-51)GAC>AAC p.D17N DLGAP1_uc010wyz.1_Missense_Mutation_p.D17N|DLGAP1_uc002kmk.2_Missense_Mutation_p.D17N|uc002kml.1_Intron NM_004746 NP_004737 O14490 DLGP1_HUMAN discs large homolog-associated protein 1 isoform 17 synaptic transmission cell junction|postsynaptic density|postsynaptic membrane ovary(2)|pancreas(1)|skin(1) 4 Colorectal(8;0.0257) CAGGCCGAGTCGCAGGTGACC 0.662 NA 14 29 0 0 0 0 ASXL3 80816 broad.mit.edu 37 18 31325297 31325297 + Missense_Mutation SNP A A C TCGA-CV-7406-01A-11D-2078-08 TCGA-CV-7406-10A-01D-2078-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 8c9effa8-acb6-4db0-874a-8f0df386924c b00b903e-f57c-4c6c-b6b8-ae40489e6167 g.chr18:31325297A>C uc010dmg.1 + 12 5540 c.5485A>C c.(5485-5487)AAG>CAG p.K1829Q ASXL3_uc002kxq.2_Missense_Mutation_p.K1536Q NM_030632 NP_085135 Q9C0F0 ASXL3_HUMAN additional sex combs like 3 1829 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus metal ion binding ovary(2)|pancreas(1) 3 CCACCCCAAAAAGAGAGTAGC 0.483 NA 44 173 0 0 0 0 SMAD4 4089 broad.mit.edu 37 18 48584814 48584814 + Missense_Mutation SNP C C T TCGA-CV-7406-01A-11D-2078-08 TCGA-CV-7406-10A-01D-2078-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 8c9effa8-acb6-4db0-874a-8f0df386924c b00b903e-f57c-4c6c-b6b8-ae40489e6167 g.chr18:48584814C>T uc010xdp.1 + 7 1430 c.892C>T c.(892-894)CCC>TCC p.P298S SMAD4_uc002lfb.3_Missense_Mutation_p.P143S NM_005359 NP_005350 Q13485 SMAD4_HUMAN mothers against decapentaplegic homolog 4 298 SAD. BMP signaling pathway|negative regulation of cell growth|negative regulation of protein catabolic process|negative regulation of transcription, DNA-dependent|palate development|positive regulation of epithelial to mesenchymal transition|positive regulation of pathway-restricted SMAD protein phosphorylation|positive regulation of SMAD protein import into nucleus|positive regulation of transforming growth factor beta receptor signaling pathway|regulation of transforming growth factor-beta2 production|response to hypoxia|response to transforming growth factor beta stimulus|SMAD protein complex assembly|SMAD protein signal transduction|transforming growth factor beta receptor signaling pathway activin responsive factor complex|centrosome|cytosol I-SMAD binding|protein homodimerization activity|R-SMAD binding|transcription regulatory region DNA binding|transforming growth factor beta receptor, common-partner cytoplasmic mediator activity p.0?(35)|p.?(2) pancreas(170)|large_intestine(108)|thyroid(19)|lung(11)|small_intestine(9)|upper_aerodigestive_tract(8)|biliary_tract(8)|ovary(7)|breast(6)|stomach(5)|oesophagus(3)|testis(2)|central_nervous_system(2)|haematopoietic_and_lymphoid_tissue(2)|gastrointestinal_tract_(site_indeterminate)(2)|liver(2)|kidney(1)|urinary_tract(1)|vulva(1)|skin(1)|NS(1) 369 all_cancers(7;0.203)|Colorectal(6;0.003)|all_epithelial(6;0.00336) Colorectal(16;0.0032)|COAD - Colon adenocarcinoma(17;0.0708)|READ - Rectum adenocarcinoma(32;0.155) GCCGCCCCATCCCGGACATTA 0.428 NA Juvenile_Polyposis|Hereditary_Hemorrhagic_Telangiectasia 20 79 0 0 0 0 FECH 2235 broad.mit.edu 37 18 55221509 55221509 + Missense_Mutation SNP G G C TCGA-CV-7406-01A-11D-2078-08 TCGA-CV-7406-10A-01D-2078-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 8c9effa8-acb6-4db0-874a-8f0df386924c b00b903e-f57c-4c6c-b6b8-ae40489e6167 g.chr18:55221509G>C uc002lgq.3 - 9 1177 c.1060C>G c.(1060-1062)CAA>GAA p.Q354E FECH_uc002lgp.3_Missense_Mutation_p.Q360E|FECH_uc002lgr.3_Missense_Mutation_p.Q212E NM_000140 NP_000131 P22830 HEMH_HUMAN ferrochelatase isoform b precursor 354 generation of precursor metabolites and energy|heme biosynthetic process|protoporphyrinogen IX metabolic process|response to light stimulus mitochondrial inner membrane|mitochondrial matrix 2 iron, 2 sulfur cluster binding|ferrochelatase activity|ferrous iron binding|protein binding p.L354L(1) central_nervous_system(1) 1 Colorectal(73;0.227) GCTAAAACTTGAGAGTACTCG 0.413 NA 55 224 0 0 0 0 CCBE1 147372 broad.mit.edu 37 18 57147439 57147439 + Missense_Mutation SNP G G A TCGA-CV-7406-01A-11D-2078-08 TCGA-CV-7406-10A-01D-2078-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 8c9effa8-acb6-4db0-874a-8f0df386924c b00b903e-f57c-4c6c-b6b8-ae40489e6167 g.chr18:57147439G>A uc002lib.2 - 3 314 c.244C>T c.(244-246)CTT>TTT p.L82F NM_133459 NP_597716 Q6UXH8 CCBE1_HUMAN collagen and calcium binding EGF domains 1 82 lymphangiogenesis|sprouting angiogenesis|venous blood vessel morphogenesis collagen calcium ion binding skin(2)|ovary(1) 3 Colorectal(73;0.175) CATTGTCCAAGAACAAATTTA 0.284 NA 27 24 0 0 0 0 SERPINB12 89777 broad.mit.edu 37 18 61234050 61234050 + Missense_Mutation SNP T T C TCGA-CV-7406-01A-11D-2078-08 TCGA-CV-7406-10A-01D-2078-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 8c9effa8-acb6-4db0-874a-8f0df386924c b00b903e-f57c-4c6c-b6b8-ae40489e6167 g.chr18:61234050T>C uc010xen.1 + 7 1024 c.1024T>C c.(1024-1026)TCA>CCA p.S342P SERPINB12_uc010xeo.1_Missense_Mutation_p.S362P NM_080474 NP_536722 Q96P63 SPB12_HUMAN serine (or cysteine) proteinase inhibitor, clade 342 negative regulation of protein catabolic process|regulation of proteolysis cytoplasm enzyme binding|serine-type endopeptidase inhibitor activity 0 TTTGTACTTGTCAAAAATTAT 0.448 NA 32 136 0 0 0 0 CREB3L3 84699 broad.mit.edu 37 19 4171739 4171739 + Missense_Mutation SNP G G A rs142789769 TCGA-CV-7406-01A-11D-2078-08 TCGA-CV-7406-10A-01D-2078-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 8c9effa8-acb6-4db0-874a-8f0df386924c b00b903e-f57c-4c6c-b6b8-ae40489e6167 g.chr19:4171739G>A uc002lzl.2 + 10 1275 c.1159G>A c.(1159-1161)GAG>AAG p.E387K CREB3L3_uc002lzm.2_Missense_Mutation_p.E377K|CREB3L3_uc010xib.1_Missense_Mutation_p.E376K|CREB3L3_uc010xic.1_3'UTR NM_032607 NP_115996 Q68CJ9 CR3L3_HUMAN cAMP responsive element binding protein 3-like 387 Lumenal (Potential). response to unfolded protein endoplasmic reticulum membrane|integral to membrane|nucleus protein dimerization activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity ovary(1)|skin(1) 2 UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.0232)|STAD - Stomach adenocarcinoma(1328;0.18) ACCCCGACCCGAGGCTGACAC 0.632 NA 42 76 0 0 0 0 MYO1F 4542 broad.mit.edu 37 19 8619446 8619446 + Missense_Mutation SNP C C T TCGA-CV-7406-01A-11D-2078-08 TCGA-CV-7406-10A-01D-2078-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 8c9effa8-acb6-4db0-874a-8f0df386924c b00b903e-f57c-4c6c-b6b8-ae40489e6167 g.chr19:8619446C>T uc002mkg.2 - 4 355 c.241G>A c.(241-243)GAG>AAG p.E81K MYO1F_uc002mkh.2_Missense_Mutation_p.E81K|MYO1F_uc010xkf.1_Missense_Mutation_p.E81K NM_012335 NP_036467 O00160 MYO1F_HUMAN myosin IF 81 Myosin head-like. unconventional myosin complex actin binding|ATP binding|calmodulin binding|motor activity ovary(2)|skin(1) 3 GGGGGATTCTCATACTGGGCC 0.617 NA 23 47 0 0 0 0 MUC16 94025 broad.mit.edu 37 19 9024166 9024166 + Missense_Mutation SNP G G A TCGA-CV-7406-01A-11D-2078-08 TCGA-CV-7406-10A-01D-2078-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 8c9effa8-acb6-4db0-874a-8f0df386924c b00b903e-f57c-4c6c-b6b8-ae40489e6167 g.chr19:9024166G>A uc002mkp.2 - 18 37310 c.37106C>T c.(37105-37107)TCA>TTA p.S12369L NM_024690 NP_078966 Q8WXI7 MUC16_HUMAN mucin 16 12371 Extracellular (Potential). cell adhesion extracellular space|extrinsic to membrane|integral to membrane|plasma membrane protein binding lung(30)|ovary(15)|breast(8)|large_intestine(1)|skin(1)|prostate(1)|pancreas(1) 57 TGGAGTCCCTGAGGTTCTGAG 0.473 NA 5 14 0 0 0 0 MUC16 94025 broad.mit.edu 37 19 9056817 9056817 + Missense_Mutation SNP G G A TCGA-CV-7406-01A-11D-2078-08 TCGA-CV-7406-10A-01D-2078-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 8c9effa8-acb6-4db0-874a-8f0df386924c b00b903e-f57c-4c6c-b6b8-ae40489e6167 g.chr19:9056817G>A uc002mkp.2 - 3 30833 c.30629C>T c.(30628-30630)TCA>TTA p.S10210L NM_024690 NP_078966 Q8WXI7 MUC16_HUMAN mucin 16 10212 Ser-rich.|Thr-rich.|Extracellular (Potential). cell adhesion extracellular space|extrinsic to membrane|integral to membrane|plasma membrane protein binding lung(30)|ovary(15)|breast(8)|large_intestine(1)|skin(1)|prostate(1)|pancreas(1) 57 GTCTGGGGATGATGTTTTTGC 0.468 NA 11 48 0 0 0 0 SMARCA4 6597 broad.mit.edu 37 19 11135091 11135091 + Missense_Mutation SNP G G A TCGA-CV-7406-01A-11D-2078-08 TCGA-CV-7406-10A-01D-2078-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 8c9effa8-acb6-4db0-874a-8f0df386924c b00b903e-f57c-4c6c-b6b8-ae40489e6167 g.chr19:11135091G>A uc002mqf.3 + 21 3342 c.3058G>A c.(3058-3060)GAT>AAT p.D1020N SMARCA4_uc010dxp.2_Missense_Mutation_p.D1020N|SMARCA4_uc010dxo.2_Missense_Mutation_p.D1020N|SMARCA4_uc002mqg.1_Missense_Mutation_p.D1020N|SMARCA4_uc010dxq.2_Missense_Mutation_p.D1020N|SMARCA4_uc010dxr.2_Missense_Mutation_p.D1020N|SMARCA4_uc002mqj.3_Missense_Mutation_p.D1020N|SMARCA4_uc010dxs.2_Missense_Mutation_p.D1020N|SMARCA4_uc010dxt.1_Missense_Mutation_p.D240N|SMARCA4_uc002mqh.3_Missense_Mutation_p.D143N|SMARCA4_uc002mqi.1_Missense_Mutation_p.D223N NM_003072 NP_003063 P51532 SMCA4_HUMAN SWI/SNF-related matrix-associated 1020 chromatin remodeling|negative regulation of androgen receptor signaling pathway|negative regulation of cell growth|negative regulation of S phase of mitotic cell cycle|negative regulation of transcription from RNA polymerase II promoter|nervous system development|positive regulation of sequence-specific DNA binding transcription factor activity|positive regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent nBAF complex|npBAF complex|nuclear chromatin|SWI/SNF complex|WINAC complex androgen receptor binding|ATP binding|DNA binding|DNA-dependent ATPase activity|helicase activity|histone acetyl-lysine binding|identical protein binding|p53 binding|protein N-terminus binding|transcription corepressor activity p.?(1) lung(29)|ovary(8)|pancreas(7)|large_intestine(5)|central_nervous_system(5)|skin(3)|prostate(3)|breast(2)|adrenal_gland(1)|stomach(1)|liver(1)|autonomic_ganglia(1)|kidney(1) 67 all_lung(6;0.0512)|Lung NSC(9;0.0568) GCTGCTGACTGATGGCTCCGA 0.627 NA F|N|Mis NSCLC Rhabdoid_Predisposition_syndrome 15 26 0 0 0 0 NDUFA13 51079 broad.mit.edu 37 19 19637028 19637028 + Missense_Mutation SNP C C G TCGA-CV-7406-01A-11D-2078-08 TCGA-CV-7406-10A-01D-2078-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 8c9effa8-acb6-4db0-874a-8f0df386924c b00b903e-f57c-4c6c-b6b8-ae40489e6167 g.chr19:19637028C>G uc010xqy.1 + 2 640 c.381C>G c.(379-381)ATC>ATG p.I127M NDUFA13_uc002nms.2_Missense_Mutation_p.I127M|NDUFA13_uc010xqx.1_Missense_Mutation_p.I127M|YJEFN3_uc002nmt.1_5'Flank|YJEFN3_uc010ecf.1_5'Flank|YJEFN3_uc002nmu.1_5'Flank NM_015965 NP_057049 Q9P0J0 NDUAD_HUMAN NADH dehydrogenase (ubiquinone) 1 alpha 44 Helical; (Potential). apoptotic nuclear change|induction of apoptosis by extracellular signals|negative regulation of cell growth|negative regulation of transcription, DNA-dependent|negative regulation of translation|protein import into nucleus|reactive oxygen species metabolic process|respiratory electron transport chain integral to membrane|mitochondrial respiratory chain complex I|nucleoplasm ATP binding|NADH dehydrogenase (ubiquinone) activity|protein binding 0 NADH(DB00157) GAACCCTGATCTACGGGCACT 0.642 NA 6 22 0 0 0 0 ZNF737 100129842 broad.mit.edu 37 19 20728762 20728762 + Nonsense_Mutation SNP G G A TCGA-CV-7406-01A-11D-2078-08 TCGA-CV-7406-10A-01D-2078-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 8c9effa8-acb6-4db0-874a-8f0df386924c b00b903e-f57c-4c6c-b6b8-ae40489e6167 g.chr19:20728762G>A uc002npa.2 - 4 427 c.247C>T c.(247-249)CGA>TGA p.R83* NM_001159293 NP_001152765 C9JHM3 C9JHM3_HUMAN zinc finger protein 737 83 regulation of transcription, DNA-dependent intracellular nucleic acid binding|zinc ion binding ovary(1) 1 CAAAGATCTCGGGCAAAATGA 0.328 NA 3 20 0 0 0 0 TSHZ3 57616 broad.mit.edu 37 19 31767646 31767646 + Missense_Mutation SNP A A G TCGA-CV-7406-01A-11D-2078-08 TCGA-CV-7406-10A-01D-2078-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 8c9effa8-acb6-4db0-874a-8f0df386924c b00b903e-f57c-4c6c-b6b8-ae40489e6167 g.chr19:31767646A>G uc002nsy.3 - 2 3118 c.3053T>C c.(3052-3054)ATA>ACA p.I1018T NM_020856 NP_065907 Q63HK5 TSH3_HUMAN zinc finger protein 537 1018 negative regulation of transcription, DNA-dependent|regulation of respiratory gaseous exchange by neurological system process growth cone|nucleus chromatin binding|protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding ovary(4)|skin(2)|pancreas(1)|lung(1) 8 Esophageal squamous(110;0.226) GGTTTGTGCTATCTGACTGTT 0.502 NA 17 42 0 0 0 0 FCGBP 8857 broad.mit.edu 37 19 40354269 40354269 + Silent SNP G G A TCGA-CV-7406-01A-11D-2078-08 TCGA-CV-7406-10A-01D-2078-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 8c9effa8-acb6-4db0-874a-8f0df386924c b00b903e-f57c-4c6c-b6b8-ae40489e6167 g.chr19:40354269G>A uc002omp.3 - 35 16208 c.16200C>T c.(16198-16200)TTC>TTT p.F5400F NM_003890 NP_003881 Q9Y6R7 FCGBP_HUMAN Fc fragment of IgG binding protein precursor 5400 VWFD 13. extracellular region protein binding ovary(4)|skin(4)|central_nervous_system(1) 9 all_cancers(60;6.03e-06)|all_lung(34;5.58e-08)|Lung NSC(34;6.62e-08)|Ovarian(47;0.06) Epithelial(26;6.25e-23)|all cancers(26;1.13e-20) ACCATGGGGAGAAGTCCTGCG 0.557 NA 13 61 0 0 0 0 CEACAM5 1048 broad.mit.edu 37 19 42221507 42221507 + Silent SNP G G A rs149933160 TCGA-CV-7406-01A-11D-2078-08 TCGA-CV-7406-10A-01D-2078-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 8c9effa8-acb6-4db0-874a-8f0df386924c b00b903e-f57c-4c6c-b6b8-ae40489e6167 g.chr19:42221507G>A uc002ork.2 + 5 1213 c.1092G>A c.(1090-1092)CCG>CCA p.P364P CEACAM5_uc002orj.1_Silent_p.P363P|CEACAM5_uc002orl.2_Silent_p.P364P NM_004363 NP_004354 P06731 CEAM5_HUMAN carcinoembryonic antigen-related cell adhesion 364 Ig-like 4. anchored to membrane|basolateral plasma membrane|integral to plasma membrane skin(2) 2 OV - Ovarian serous cystadenocarcinoma(3;0.00278)|all cancers(3;0.00625)|Epithelial(262;0.0379)|GBM - Glioblastoma multiforme(1328;0.142) AGAGCCTCCCGGTCAGTCCCA 0.512 NA 29 159 0 0 0 0 GRIK5 2901 broad.mit.edu 37 19 42510941 42510941 + Silent SNP G G A TCGA-CV-7406-01A-11D-2078-08 TCGA-CV-7406-10A-01D-2078-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 8c9effa8-acb6-4db0-874a-8f0df386924c b00b903e-f57c-4c6c-b6b8-ae40489e6167 g.chr19:42510941G>A uc002osj.1 - 15 1928 c.1893C>T c.(1891-1893)ATC>ATT p.I631I GRIK5_uc002osi.1_Silent_p.I203I NM_002088 NP_002079 Q16478 GRIK5_HUMAN glutamate receptor KA2 precursor 631 Helical; (Potential). cell junction|postsynaptic membrane extracellular-glutamate-gated ion channel activity|kainate selective glutamate receptor activity 0 Prostate(69;0.059) L-Glutamic Acid(DB00142) AGGAGGAGATGATGATCAAGG 0.647 NA 8 19 0 0 0 0 IRGC 56269 broad.mit.edu 37 19 44222839 44222839 + Silent SNP C C A TCGA-CV-7406-01A-11D-2078-08 TCGA-CV-7406-10A-01D-2078-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 8c9effa8-acb6-4db0-874a-8f0df386924c b00b903e-f57c-4c6c-b6b8-ae40489e6167 g.chr19:44222839C>A uc002oxh.2 + 2 276 c.129C>A c.(127-129)CTC>CTA p.L43L NM_019612 NP_062558 Q6NXR0 IIGP5_HUMAN immunity-related GTPase family, cinema 43 membrane GTP binding|hydrolase activity, acting on acid anhydrides ovary(1)|central_nervous_system(1)|skin(1) 3 Prostate(69;0.0435) CCTCTCACCTCCAGGAGCTGC 0.667 NA 34 48 6.53e-20 7.08e-20 1 0 MARK4 57787 broad.mit.edu 37 19 45769536 45769536 + Silent SNP G G A TCGA-CV-7406-01A-11D-2078-08 TCGA-CV-7406-10A-01D-2078-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 8c9effa8-acb6-4db0-874a-8f0df386924c b00b903e-f57c-4c6c-b6b8-ae40489e6167 g.chr19:45769536G>A uc002pbb.1 + 7 551 c.546G>A c.(544-546)CTG>CTA p.L182L MARK4_uc002paz.1_Intron|MARK4_uc002pba.1_Silent_p.L182L|MARK4_uc002pbc.1_Silent_p.L48L Q96L34 MARK4_HUMAN RecName: Full=MAP/microtubule affinity-regulating kinase 4; EC=2.7.11.1; AltName: Full=MAP/microtubule affinity-regulating kinase-like 1; 182 Protein kinase. microtubule bundle formation|nervous system development|positive regulation of programmed cell death centrosome|neuron projection ATP binding|gamma-tubulin binding|microtubule binding|protein serine/threonine kinase activity|tau-protein kinase activity|ubiquitin binding central_nervous_system(2)|large_intestine(1) 3 all_neural(266;0.224)|Ovarian(192;0.231) OV - Ovarian serous cystadenocarcinoma(262;0.0102) ACAGGGACCTGAAGGTAAGCC 0.562 NA 61 76 0 0 0 0 ZNF528 84436 broad.mit.edu 37 19 52919487 52919487 + Missense_Mutation SNP G G A TCGA-CV-7406-01A-11D-2078-08 TCGA-CV-7406-10A-01D-2078-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 8c9effa8-acb6-4db0-874a-8f0df386924c b00b903e-f57c-4c6c-b6b8-ae40489e6167 g.chr19:52919487G>A uc002pzh.2 + 7 1808 c.1382G>A c.(1381-1383)GGA>GAA p.G461E ZNF528_uc002pzi.2_Missense_Mutation_p.G228E NM_032423 NP_115799 Q3MIS6 ZN528_HUMAN zinc finger protein 528 461 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding ovary(1)|skin(1) 2 GBM - Glioblastoma multiforme(134;0.00249)|OV - Ovarian serous cystadenocarcinoma(262;0.00817) ATCCATAGTGGAGAGAAACCT 0.378 NA 20 76 0 0 0 0 MBOAT7 79143 broad.mit.edu 37 19 54677887 54677887 + Missense_Mutation SNP G G A TCGA-CV-7406-01A-11D-2078-08 TCGA-CV-7406-10A-01D-2078-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 8c9effa8-acb6-4db0-874a-8f0df386924c b00b903e-f57c-4c6c-b6b8-ae40489e6167 g.chr19:54677887G>A uc002qdq.2 - 9 1536 c.1270C>T c.(1270-1272)CGG>TGG p.R424W TMC4_uc010erf.2_5'Flank|TMC4_uc002qdo.2_5'Flank|MBOAT7_uc010erg.2_Missense_Mutation_p.R108W|MBOAT7_uc010yem.1_Missense_Mutation_p.R406W|MBOAT7_uc002qdr.2_Missense_Mutation_p.R424W|MBOAT7_uc002qds.2_Missense_Mutation_p.R351W|MBOAT7_uc010yen.1_Missense_Mutation_p.R351W NM_024298 NP_077274 Q96N66 MBOA7_HUMAN membrane bound O-acyltransferase domain 424 phospholipid biosynthetic process integral to membrane acyltransferase activity 0 all_cancers(19;0.0065)|all_epithelial(19;0.00348)|all_lung(19;0.0175)|Lung NSC(19;0.0325)|Ovarian(34;0.19) GCCCAGTACCGAAGGGTGTCG 0.647 NA 17 102 0 0 0 0 LILRA5 353514 broad.mit.edu 37 19 54819017 54819017 + Silent SNP G G C TCGA-CV-7406-01A-11D-2078-08 TCGA-CV-7406-10A-01D-2078-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 8c9effa8-acb6-4db0-874a-8f0df386924c b00b903e-f57c-4c6c-b6b8-ae40489e6167 g.chr19:54819017G>C uc002qfe.2 - 6 849 c.729C>G c.(727-729)CTC>CTG p.L243L LILRA5_uc002qff.2_Silent_p.L231L|LILRA5_uc010yev.1_Silent_p.L243L|LILRA5_uc010yew.1_Silent_p.L231L NM_021250 NP_067073 A6NI73 LIRA5_HUMAN leukocyte immunoglobulin-like receptor subfamily 243 Extracellular (Potential). innate immune response extracellular region|integral to membrane receptor activity upper_aerodigestive_tract(1) 1 Ovarian(34;0.19) GBM - Glioblastoma multiforme(193;0.105) GTGACGGACTGAGGTTATCAG 0.507 NA 10 42 0 0 0 0 NLRP13 126204 broad.mit.edu 37 19 56422029 56422029 + Missense_Mutation SNP G G C TCGA-CV-7406-01A-11D-2078-08 TCGA-CV-7406-10A-01D-2078-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 8c9effa8-acb6-4db0-874a-8f0df386924c b00b903e-f57c-4c6c-b6b8-ae40489e6167 g.chr19:56422029G>C uc010ygg.1 - 6 2207 c.2182C>G c.(2182-2184)CTG>GTG p.L728V NM_176810 NP_789780 Q86W25 NAL13_HUMAN NACHT, leucine rich repeat and PYD containing 728 LRR 1. ATP binding skin(4)|ovary(3)|pancreas(1)|lung(1) 9 Colorectal(82;3.48e-05)|Ovarian(87;0.0481)|Renal(1328;0.218) GBM - Glioblastoma multiforme(193;0.0642) AGCTCATGCAGATTCTCATTT 0.453 NA 32 97 0 0 0 0 ZNF667 63934 broad.mit.edu 37 19 56954105 56954105 + Missense_Mutation SNP C C A rs138160651 byFrequency TCGA-CV-7406-01A-11D-2078-08 TCGA-CV-7406-10A-01D-2078-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 8c9effa8-acb6-4db0-874a-8f0df386924c b00b903e-f57c-4c6c-b6b8-ae40489e6167 g.chr19:56954105C>A uc002qnd.2 - 5 421 c.259G>T c.(259-261)GGG>TGG p.G87W ZNF667_uc010etl.2_5'UTR|ZNF667_uc002qne.2_Missense_Mutation_p.G87W|ZNF667_uc010etm.2_Missense_Mutation_p.G30W NM_022103 NP_071386 Q5HYK9 ZN667_HUMAN zinc finger protein 667 87 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding pancreas(1) 1 Colorectal(82;0.000256)|Ovarian(87;0.243) GBM - Glioblastoma multiforme(193;0.0615) CATTTAGACCCCGAGTCTGAA 0.348 NA 15 77 2.23e-06 2.35e-06 1 0 ZNF71 58491 broad.mit.edu 37 19 57133429 57133429 + Silent SNP C C T TCGA-CV-7406-01A-11D-2078-08 TCGA-CV-7406-10A-01D-2078-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 8c9effa8-acb6-4db0-874a-8f0df386924c b00b903e-f57c-4c6c-b6b8-ae40489e6167 g.chr19:57133429C>T uc002qnm.3 + 3 1012 c.774C>T c.(772-774)ATC>ATT p.I258I NM_021216 NP_067039 Q9NQZ8 ZNF71_HUMAN zinc finger protein 71 258 C2H2-type 5. nucleus DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding skin(1) 1 GBM - Glioblastoma multiforme(193;0.062)|Lung(386;0.0681)|LUSC - Lung squamous cell carcinoma(496;0.18) TGCACCTCATCGTGCACCAGC 0.662 NA 16 48 0 0 0 0 CLEC4F 165530 broad.mit.edu 37 2 71046980 71046980 + Silent SNP C C T TCGA-CV-7406-01A-11D-2078-08 TCGA-CV-7406-10A-01D-2078-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 8c9effa8-acb6-4db0-874a-8f0df386924c b00b903e-f57c-4c6c-b6b8-ae40489e6167 g.chr2:71046980C>T uc002shf.2 - 2 182 c.105G>A c.(103-105)CCG>CCA p.P35P CLEC4F_uc010yqv.1_Silent_p.P35P NM_173535 NP_775806 Q8N1N0 CLC4F_HUMAN C-type lectin, superfamily member 13 35 Cytoplasmic (Potential). endocytosis integral to membrane receptor activity|sugar binding ovary(5) 5 GAACGAGCCTCGGTATCTTGG 0.567 NA 12 30 0 0 0 0 PCGF1 84759 broad.mit.edu 37 2 74734013 74734013 + Splice_Site SNP T T C TCGA-CV-7406-01A-11D-2078-08 TCGA-CV-7406-10A-01D-2078-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 8c9effa8-acb6-4db0-874a-8f0df386924c b00b903e-f57c-4c6c-b6b8-ae40489e6167 g.chr2:74734013T>C uc002slz.2 - 3 226 c.200_splice c.e3-1 p.F67_splice PCGF1_uc002sly.2_Splice_Site NM_032673 NP_116062 Q9BSM1 PCGF1_HUMAN polycomb group ring finger 1 histone H2A monoubiquitination|regulation of transcription, DNA-dependent|transcription, DNA-dependent PcG protein complex protein C-terminus binding|zinc ion binding ovary(1) 1 TCTTGCAGACTGCAGGAAAAG 0.527 NA 18 49 0 0 0 0 LRRTM1 347730 broad.mit.edu 37 2 80530936 80530936 + Silent SNP G G A TCGA-CV-7406-01A-11D-2078-08 TCGA-CV-7406-10A-01D-2078-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 8c9effa8-acb6-4db0-874a-8f0df386924c b00b903e-f57c-4c6c-b6b8-ae40489e6167 g.chr2:80530936G>A uc002sok.1 - 2 279 c.9C>T c.(7-9)TTC>TTT p.F3F CTNNA2_uc010yse.1_Intron|CTNNA2_uc010ysf.1_Intron|CTNNA2_uc010ysg.1_Intron|CTNNA2_uc010ysh.1_Intron|CTNNA2_uc010ysi.1_5'Flank|LRRTM1_uc002soj.3_RNA NM_178839 NP_849161 Q86UE6 LRRT1_HUMAN leucine rich repeat transmembrane neuronal 1 3 axon|endoplasmic reticulum membrane|growth cone|integral to membrane ovary(3)|upper_aerodigestive_tract(1)|skin(1) 5 CGAGCAGCAGGAAATCCATTA 0.557 NA HNSCC(69;0.2) 11 42 0 0 0 0 GALNT5 11227 broad.mit.edu 37 2 158115563 158115563 + Silent SNP G G C TCGA-CV-7406-01A-11D-2078-08 TCGA-CV-7406-10A-01D-2078-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 8c9effa8-acb6-4db0-874a-8f0df386924c b00b903e-f57c-4c6c-b6b8-ae40489e6167 g.chr2:158115563G>C uc002tzg.2 + 1 1224 c.969G>C c.(967-969)GTG>GTC p.V323V GALNT5_uc010zci.1_RNA NM_014568 NP_055383 Q7Z7M9 GALT5_HUMAN N-acetylgalactosaminyltransferase 5 323 Lumenal (Potential). glycosaminoglycan biosynthetic process Golgi membrane|integral to membrane polypeptide N-acetylgalactosaminyltransferase activity|sugar binding breast(3)|skin(1) 4 GCCATCTTGTGATTATAACCA 0.388 NA 27 72 0 0 0 0 TTN 7273 broad.mit.edu 37 2 179449657 179449657 + Missense_Mutation SNP C C T TCGA-CV-7406-01A-11D-2078-08 TCGA-CV-7406-10A-01D-2078-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 8c9effa8-acb6-4db0-874a-8f0df386924c b00b903e-f57c-4c6c-b6b8-ae40489e6167 g.chr2:179449657C>T uc010zfg.1 - 259 57231 c.57007G>A c.(57007-57009)GAT>AAT p.D19003N uc002umo.2_RNA|uc002ump.1_Intron|TTN_uc010zfh.1_Missense_Mutation_p.D12698N|TTN_uc010zfi.1_Missense_Mutation_p.D12631N|TTN_uc010zfj.1_Missense_Mutation_p.D12506N NM_133378 NP_596869 Q8WZ42 TITIN_HUMAN titin isoform N2-A 19930 ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity ovary(58)|stomach(19)|large_intestine(17)|lung(16)|skin(16)|breast(10)|pancreas(7)|kidney(4)|central_nervous_system(3)|urinary_tract(2)|upper_aerodigestive_tract(1) 153 OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134) GCGTCTATATCAGAAATGTCA 0.458 NA 24 39 0 0 0 0 STAT1 6772 broad.mit.edu 37 2 191874723 191874723 + Nonsense_Mutation SNP G G A TCGA-CV-7406-01A-11D-2078-08 TCGA-CV-7406-10A-01D-2078-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 8c9effa8-acb6-4db0-874a-8f0df386924c b00b903e-f57c-4c6c-b6b8-ae40489e6167 g.chr2:191874723G>A uc002usj.2 - 3 395 c.7C>T c.(7-9)CAG>TAG p.Q3* STAT1_uc010fse.1_Nonsense_Mutation_p.Q3*|STAT1_uc002usk.2_Nonsense_Mutation_p.Q3*|STAT1_uc002usl.2_Nonsense_Mutation_p.Q5*|STAT1_uc010fsf.1_5'UTR NM_007315 NP_009330 P42224 STAT1_HUMAN signal transducer and activator of transcription 3 activation of caspase activity|I-kappaB kinase/NF-kappaB cascade|interferon-gamma-mediated signaling pathway|interspecies interaction between organisms|regulation of interferon-gamma-mediated signaling pathway|regulation of type I interferon-mediated signaling pathway|response to virus|type I interferon-mediated signaling pathway|tyrosine phosphorylation of STAT protein cytosol|nucleolus|nucleoplasm calcium ion binding|protein binding|RNA polymerase II core promoter sequence-specific DNA binding|RNA polymerase II core promoter sequence-specific DNA binding transcription factor activity|signal transducer activity lung(3)|breast(3)|central_nervous_system(2)|upper_aerodigestive_tract(1)|ovary(1) 10 OV - Ovarian serous cystadenocarcinoma(117;0.00434)|Epithelial(96;0.0555)|all cancers(119;0.141) Fludarabine(DB01073) TCGTACCACTGAGACATCCTA 0.403 NA 18 22 0 0 0 0 ALS2CR12 130540 broad.mit.edu 37 2 202173910 202173910 + Missense_Mutation SNP C C T TCGA-CV-7406-01A-11D-2078-08 TCGA-CV-7406-10A-01D-2078-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 8c9effa8-acb6-4db0-874a-8f0df386924c b00b903e-f57c-4c6c-b6b8-ae40489e6167 g.chr2:202173910C>T uc010ftg.2 - 10 1183 c.739G>A c.(739-741)GAG>AAG p.E247K ALS2CR12_uc002uya.3_Missense_Mutation_p.E247K|ALS2CR12_uc010fth.2_RNA NM_139163 NP_631902 Q96Q35 AL2SB_HUMAN amyotrophic lateral sclerosis 2 (juvenile) 247 regulation of GTPase activity protein binding ovary(1)|breast(1)|central_nervous_system(1) 3 TCGAACTTCTCATCCTTCTTC 0.408 NA 43 64 0 0 0 0 NBEAL1 65065 broad.mit.edu 37 2 204009620 204009620 + Missense_Mutation SNP G G C TCGA-CV-7406-01A-11D-2078-08 TCGA-CV-7406-10A-01D-2078-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 8c9effa8-acb6-4db0-874a-8f0df386924c b00b903e-f57c-4c6c-b6b8-ae40489e6167 g.chr2:204009620G>C uc002uzt.3 + 31 5392 c.5059G>C c.(5059-5061)GAA>CAA p.E1687Q NBEAL1_uc002uzs.3_Missense_Mutation_p.E397Q NM_001114132 NP_001107604 Q6ZS30 NBEL1_HUMAN neurobeachin-like 1 isoform 3 1687 binding ovary(1)|skin(1) 2 AGTTTACATTGAAAAATATGT 0.249 NA 6 8 0 0 0 0 TRIB3 57761 broad.mit.edu 37 20 372179 372179 + Silent SNP G G A TCGA-CV-7406-01A-11D-2078-08 TCGA-CV-7406-10A-01D-2078-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 8c9effa8-acb6-4db0-874a-8f0df386924c b00b903e-f57c-4c6c-b6b8-ae40489e6167 g.chr20:372179G>A uc002wdm.2 + 3 1046 c.540G>A c.(538-540)CTG>CTA p.L180L TRIB3_uc002wdn.2_Silent_p.L207L NM_021158 NP_066981 Q96RU7 TRIB3_HUMAN tribbles 3 180 Protein kinase. apoptosis|cellular lipid metabolic process|insulin receptor signaling pathway|negative regulation of fat cell differentiation|negative regulation of fatty acid biosynthetic process|negative regulation of protein kinase activity|nerve growth factor receptor signaling pathway|phosphatidylinositol-mediated signaling|positive regulation of protein binding|positive regulation of ubiquitin-protein ligase activity|regulation of glucose transport|regulation of MAP kinase activity|regulation of transcription, DNA-dependent|response to stress|transcription, DNA-dependent cytosol|nucleus|plasma membrane ATP binding|protein kinase activity|protein kinase binding|protein kinase inhibitor activity|transcription corepressor activity|ubiquitin protein ligase binding|ubiquitin-protein ligase regulator activity central_nervous_system(2) 2 all_epithelial(17;0.165)|Lung NSC(37;0.191)|Breast(17;0.231) Colorectal(46;0.101)|COAD - Colon adenocarcinoma(99;0.112) GTCTGGTCCTGCGTGATCTCA 0.637 NA 8 27 0 0 0 0 C20orf26 26074 broad.mit.edu 37 20 20243630 20243630 + Missense_Mutation SNP C C G TCGA-CV-7406-01A-11D-2078-08 TCGA-CV-7406-10A-01D-2078-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 8c9effa8-acb6-4db0-874a-8f0df386924c b00b903e-f57c-4c6c-b6b8-ae40489e6167 g.chr20:20243630C>G uc002wru.2 + 21 2435 c.2359C>G c.(2359-2361)CAA>GAA p.Q787E C20orf26_uc010zse.1_Missense_Mutation_p.Q767E|C20orf26_uc002wrw.2_RNA|C20orf26_uc002wrv.2_Missense_Mutation_p.Q143E NM_015585 NP_056400 Q8NHU2 CT026_HUMAN hypothetical protein LOC26074 787 ovary(3)|pancreas(1) 4 READ - Rectum adenocarcinoma(2;0.171) TGATATTAGTCAACACCTGAC 0.443 NA 12 31 0 0 0 0 GINS1 9837 broad.mit.edu 37 20 25405913 25405913 + Missense_Mutation SNP G G A TCGA-CV-7406-01A-11D-2078-08 TCGA-CV-7406-10A-01D-2078-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 8c9effa8-acb6-4db0-874a-8f0df386924c b00b903e-f57c-4c6c-b6b8-ae40489e6167 g.chr20:25405913G>A uc002wuv.1 + 5 531 c.397G>A c.(397-399)GGT>AGT p.G133S GINS1_uc010zte.1_RNA NM_021067 NP_066545 Q14691 PSF1_HUMAN GINS complex subunit 1 133 DNA strand elongation involved in DNA replication|S phase of mitotic cell cycle cytoplasm|nucleoplasm p.G133R(1) ovary(1)|central_nervous_system(1) 2 AGGAGATGAAGGTTTGGACAT 0.313 NA 3 38 0 0 0 0 RBL1 5933 broad.mit.edu 37 20 35668562 35668562 + Nonsense_Mutation SNP G G A TCGA-CV-7406-01A-11D-2078-08 TCGA-CV-7406-10A-01D-2078-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 8c9effa8-acb6-4db0-874a-8f0df386924c b00b903e-f57c-4c6c-b6b8-ae40489e6167 g.chr20:35668562G>A uc002xgi.2 - 14 1976 c.1897C>T c.(1897-1899)CGA>TGA p.R633* RBL1_uc010zvt.1_RNA|RBL1_uc002xgj.1_Nonsense_Mutation_p.R633* NM_002895 NP_002886 P28749 RBL1_HUMAN retinoblastoma-like protein 1 isoform a 633 Pocket; binds T and E1A.|Spacer. cell cycle|chromatin modification|interspecies interaction between organisms|regulation of cell cycle|regulation of lipid kinase activity|transcription, DNA-dependent transcription factor binding lung(5)|skin(3)|ovary(2) 10 Myeloproliferative disorder(115;0.00878) CTACCTCTTCGAAGACTCCCA 0.413 NA 33 83 0 0 0 0 SLC13A3 64849 broad.mit.edu 37 20 45221110 45221110 + Missense_Mutation SNP G G C TCGA-CV-7406-01A-11D-2078-08 TCGA-CV-7406-10A-01D-2078-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 8c9effa8-acb6-4db0-874a-8f0df386924c b00b903e-f57c-4c6c-b6b8-ae40489e6167 g.chr20:45221110G>C uc002xsf.1 - 6 891 c.853C>G c.(853-855)CTT>GTT p.L285V SLC13A3_uc010ghn.1_Missense_Mutation_p.L254V|SLC13A3_uc010zxw.1_Intron|SLC13A3_uc002xsg.1_Missense_Mutation_p.L238V|SLC13A3_uc010gho.1_Missense_Mutation_p.L238V|SLC13A3_uc010zxx.1_Missense_Mutation_p.L187V NM_022829 NP_073740 Q8WWT9 S13A3_HUMAN solute carrier family 13 member 3 isoform a 285 Helical; (Potential). integral to membrane|plasma membrane high affinity sodium:dicarboxylate symporter activity ovary(1) 1 Myeloproliferative disorder(115;0.0122) Succinic acid(DB00139) AACAGCATAAGAGGGAAGGCG 0.522 NA 7 27 0 0 0 0 UMODL1 89766 broad.mit.edu 37 21 43547845 43547845 + Silent SNP C C T TCGA-CV-7406-01A-11D-2078-08 TCGA-CV-7406-10A-01D-2078-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 8c9effa8-acb6-4db0-874a-8f0df386924c b00b903e-f57c-4c6c-b6b8-ae40489e6167 g.chr21:43547845C>T uc002zaf.1 + 20 3594 c.3594C>T c.(3592-3594)TTC>TTT p.F1198F UMODL1_uc002zad.1_Silent_p.F1126F|UMODL1_uc002zae.1_Silent_p.F1254F|UMODL1_uc002zag.1_Silent_p.F1326F|UMODL1_uc002zal.1_Silent_p.F148F|UMODL1_uc010gpa.1_RNA NM_001004416 NP_001004416 Q5DID0 UROL1_HUMAN uromodulin-like 1 isoform 1 precursor 1198 Extracellular (Potential).|ZP. cytoplasm|extracellular region|integral to membrane|plasma membrane calcium ion binding|peptidase inhibitor activity ovary(2)|skin(1) 3 AGGCCCAGTTCAAGCTGAGGA 0.517 NA 12 47 0 0 0 0 C22orf43 51233 broad.mit.edu 37 22 23974134 23974134 + Missense_Mutation SNP G G A TCGA-CV-7406-01A-11D-2078-08 TCGA-CV-7406-10A-01D-2078-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 8c9effa8-acb6-4db0-874a-8f0df386924c b00b903e-f57c-4c6c-b6b8-ae40489e6167 g.chr22:23974134G>A uc002zxf.2 - 1 354 c.77C>T c.(76-78)TCT>TTT p.S26F NM_016449 NP_057533 Q6PGQ1 CV043_HUMAN hypothetical protein LOC51233 26 skin(1) 1 ATCAGTATCAGATTCATAACA 0.542 NA 26 66 0 0 0 0 CABIN1 23523 broad.mit.edu 37 22 24483605 24483605 + Missense_Mutation SNP C C T TCGA-CV-7406-01A-11D-2078-08 TCGA-CV-7406-10A-01D-2078-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 8c9effa8-acb6-4db0-874a-8f0df386924c b00b903e-f57c-4c6c-b6b8-ae40489e6167 g.chr22:24483605C>T uc002zzi.1 + 23 3591 c.3464C>T c.(3463-3465)TCA>TTA p.S1155L CABIN1_uc002zzj.1_Missense_Mutation_p.S1105L|CABIN1_uc002zzl.1_Missense_Mutation_p.S1155L NM_012295 NP_036427 Q9Y6J0 CABIN_HUMAN calcineurin binding protein 1 1155 cell surface receptor linked signaling pathway|chromatin modification nucleus protein phosphatase inhibitor activity ovary(2)|upper_aerodigestive_tract(1)|central_nervous_system(1)|pancreas(1) 5 GCCTTGCACTCATTCGCCTCA 0.587 NA 23 60 0 0 0 0 TBC1D10A 83874 broad.mit.edu 37 22 30722748 30722748 + Silent SNP G G A TCGA-CV-7406-01A-11D-2078-08 TCGA-CV-7406-10A-01D-2078-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 8c9effa8-acb6-4db0-874a-8f0df386924c b00b903e-f57c-4c6c-b6b8-ae40489e6167 g.chr22:30722748G>A uc011akt.1 - 1 147 c.123C>T c.(121-123)CTC>CTT p.L41L TBC1D10A_uc010gvu.2_Silent_p.L41L|TBC1D10A_uc003ahk.3_Silent_p.L41L NM_031937 NP_114143 Q9BXI6 TB10A_HUMAN TBC1 domain family, member 10A 41 intracellular|microvillus guanyl-nucleotide exchange factor activity|PDZ domain binding|Rab GTPase activator activity ovary(1) 1 AGTCAGACCCGAGAGAGCTGA 0.607 NA 12 34 0 0 0 0 SLC6A1 6529 broad.mit.edu 37 3 11059596 11059596 + Silent SNP C C T TCGA-CV-7406-01A-11D-2078-08 TCGA-CV-7406-10A-01D-2078-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 8c9effa8-acb6-4db0-874a-8f0df386924c b00b903e-f57c-4c6c-b6b8-ae40489e6167 g.chr3:11059596C>T uc010hdq.2 + 4 717 c.306C>T c.(304-306)TGC>TGT p.C102C NM_003042 NP_003033 P30531 SC6A1_HUMAN solute carrier family 6 (neurotransmitter 102 neurotransmitter secretion integral to plasma membrane gamma-aminobutyric acid:sodium symporter activity|neurotransmitter:sodium symporter activity ovary(1)|skin(1) 2 Ovarian(110;0.0392) OV - Ovarian serous cystadenocarcinoma(96;0.00099) Cocaine(DB00907)|Tiagabine(DB00906) TGCTGGAGTGCTCCCTGGGCC 0.592 NA 43 91 0 0 0 0 HACL1 26061 broad.mit.edu 37 3 15613185 15613185 + Missense_Mutation SNP G G A TCGA-CV-7406-01A-11D-2078-08 TCGA-CV-7406-10A-01D-2078-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 8c9effa8-acb6-4db0-874a-8f0df386924c b00b903e-f57c-4c6c-b6b8-ae40489e6167 g.chr3:15613185G>A uc003caf.2 - 12 1245 c.1085C>T c.(1084-1086)GCT>GTT p.A362V HACL1_uc011avr.1_RNA|HACL1_uc011avs.1_Missense_Mutation_p.A335V|HACL1_uc011avt.1_Intron|HACL1_uc003cag.2_Missense_Mutation_p.A6V|HACL1_uc011avu.1_Missense_Mutation_p.A280V|HACL1_uc010hep.2_Missense_Mutation_p.A121V NM_012260 NP_036392 Q9UJ83 HACL1_HUMAN 2-hydroxyphytanoyl-CoA lyase 362 fatty acid alpha-oxidation peroxisomal matrix carbon-carbon lyase activity|identical protein binding|magnesium ion binding|thiamine pyrophosphate binding 0 CTTGGATGCAGCTTCATTGCT 0.323 NA 15 76 0 0 0 0 KCNH8 131096 broad.mit.edu 37 3 19492809 19492809 + Missense_Mutation SNP C C T TCGA-CV-7406-01A-11D-2078-08 TCGA-CV-7406-10A-01D-2078-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 8c9effa8-acb6-4db0-874a-8f0df386924c b00b903e-f57c-4c6c-b6b8-ae40489e6167 g.chr3:19492809C>T uc003cbk.1 + 10 1933 c.1738C>T c.(1738-1740)CGT>TGT p.R580C KCNH8_uc011awe.1_3'UTR|KCNH8_uc010hex.1_Missense_Mutation_p.R41C|KCNH8_uc011awf.1_3'UTR NM_144633 NP_653234 Q96L42 KCNH8_HUMAN potassium voltage-gated channel, subfamily H, 580 cNMP.|Cytoplasmic (Potential). integral to membrane two-component sensor activity lung(4)|ovary(1) 5 GTATCTGCTGCGTCAAGGGGA 0.507 NA 29 59 0 0 0 0 CCR3 1232 broad.mit.edu 37 3 46307508 46307508 + Missense_Mutation SNP G G C TCGA-CV-7406-01A-11D-2078-08 TCGA-CV-7406-10A-01D-2078-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 8c9effa8-acb6-4db0-874a-8f0df386924c b00b903e-f57c-4c6c-b6b8-ae40489e6167 g.chr3:46307508G>C uc003cpg.1 + 4 1402 c.859G>C c.(859-861)GAG>CAG p.E287Q CCR3_uc003cpi.1_Missense_Mutation_p.E287Q|CCR3_uc003cpj.1_Missense_Mutation_p.E287Q|CCR3_uc003cpk.1_Missense_Mutation_p.E308Q|CCR3_uc010hjb.1_Missense_Mutation_p.E305Q|CCR3_uc003cpl.1_Missense_Mutation_p.E320Q NM_178329 NP_847899 P51677 CCR3_HUMAN CC chemokine receptor 3 isoform 1 287 Helical; Name=7; (Potential). cell adhesion|cellular defense response|chemotaxis|elevation of cytosolic calcium ion concentration|G-protein signaling, coupled to cAMP nucleotide second messenger|inflammatory response|interspecies interaction between organisms|positive regulation of angiogenesis integral to plasma membrane ovary(3)|lung(3)|breast(1)|kidney(1) 8 BRCA - Breast invasive adenocarcinoma(193;0.00119)|KIRC - Kidney renal clear cell carcinoma(197;0.0183)|Kidney(197;0.0216) GCTGGTGACAGAGGTGATCGC 0.517 NA 22 27 0 0 0 0 CELSR3 1951 broad.mit.edu 37 3 48689469 48689469 + Missense_Mutation SNP C C T TCGA-CV-7406-01A-11D-2078-08 TCGA-CV-7406-10A-01D-2078-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 8c9effa8-acb6-4db0-874a-8f0df386924c b00b903e-f57c-4c6c-b6b8-ae40489e6167 g.chr3:48689469C>T uc003cul.2 - 12 6045 c.5764G>A c.(5764-5766)GGC>AGC p.G1922S CELSR3_uc003cuf.1_Missense_Mutation_p.G1992S|CELSR3_uc010hkg.2_5'UTR NM_001407 NP_001398 Q9NYQ7 CELR3_HUMAN cadherin EGF LAG seven-pass G-type receptor 3 1922 Extracellular (Potential).|Laminin G-like 2. homophilic cell adhesion|multicellular organismal development|neuropeptide signaling pathway integral to membrane|plasma membrane calcium ion binding|G-protein coupled receptor activity|protein binding ovary(5)|upper_aerodigestive_tract(2)|central_nervous_system(2)|skin(2) 11 BRCA - Breast invasive adenocarcinoma(193;0.000292)|KIRC - Kidney renal clear cell carcinoma(197;0.00549)|Kidney(197;0.00619) GGTGTGGAGCCGAGCCACACC 0.647 NA 3 28 0 0 0 0 BSN 8927 broad.mit.edu 37 3 49694791 49694791 + Missense_Mutation SNP G G A TCGA-CV-7406-01A-11D-2078-08 TCGA-CV-7406-10A-01D-2078-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 8c9effa8-acb6-4db0-874a-8f0df386924c b00b903e-f57c-4c6c-b6b8-ae40489e6167 g.chr3:49694791G>A uc003cxe.3 + 5 7916 c.7802G>A c.(7801-7803)CGA>CAA p.R2601Q NM_003458 NP_003449 Q9UPA5 BSN_HUMAN bassoon protein 2601 Poly-Arg. synaptic transmission cell junction|cytoplasm|cytoskeleton|nucleus|synaptosome metal ion binding ovary(5)|pancreas(1)|central_nervous_system(1)|skin(1) 8 BRCA - Breast invasive adenocarcinoma(193;6.66e-05)|KIRC - Kidney renal clear cell carcinoma(197;0.0032)|Kidney(197;0.00336) TTGAGTCGGCGACGCCGGGCA 0.647 NA 14 32 0 0 0 0 DOCK3 1795 broad.mit.edu 37 3 51411927 51411927 + Missense_Mutation SNP G G A TCGA-CV-7406-01A-11D-2078-08 TCGA-CV-7406-10A-01D-2078-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 8c9effa8-acb6-4db0-874a-8f0df386924c b00b903e-f57c-4c6c-b6b8-ae40489e6167 g.chr3:51411927G>A uc011bds.1 + 50 5344 c.5321G>A c.(5320-5322)CGC>CAC p.R1774H NM_004947 NP_004938 Q8IZD9 DOCK3_HUMAN dedicator of cytokinesis 3 1774 cytoplasm GTP binding|GTPase binding|guanyl-nucleotide exchange factor activity|SH3 domain binding 0 BRCA - Breast invasive adenocarcinoma(193;0.00105)|KIRC - Kidney renal clear cell carcinoma(197;0.00449)|Kidney(197;0.00518) GATAAGTACCGCCATGCCCGT 0.537 NA 4 11 0 0 0 0 OR5H14 403273 broad.mit.edu 37 3 97868899 97868899 + Missense_Mutation SNP A A G TCGA-CV-7406-01A-11D-2078-08 TCGA-CV-7406-10A-01D-2078-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 8c9effa8-acb6-4db0-874a-8f0df386924c b00b903e-f57c-4c6c-b6b8-ae40489e6167 g.chr3:97868899A>G uc003dsg.1 + 1 670 c.670A>G c.(670-672)ACA>GCA p.T224A NM_001005514 NP_001005514 A6NHG9 O5H14_HUMAN olfactory receptor, family 5, subfamily H, 224 Cytoplasmic (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity skin(1) 1 TGTCCTCTATACAATCTTGAA 0.358 NA 12 37 0 0 0 0 IMPG2 50939 broad.mit.edu 37 3 100995541 100995541 + Missense_Mutation SNP G G C TCGA-CV-7406-01A-11D-2078-08 TCGA-CV-7406-10A-01D-2078-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 8c9effa8-acb6-4db0-874a-8f0df386924c b00b903e-f57c-4c6c-b6b8-ae40489e6167 g.chr3:100995541G>C uc003duq.1 - 5 753 c.550C>G c.(550-552)CCA>GCA p.P184A IMPG2_uc011bhe.1_Missense_Mutation_p.P47A NM_016247 NP_057331 Q9BZV3 IMPG2_HUMAN interphotoreceptor matrix proteoglycan 2 184 Extracellular (Potential). visual perception integral to membrane|proteinaceous extracellular matrix extracellular matrix structural constituent|heparin binding|hyaluronic acid binding|receptor activity ovary(2)|haematopoietic_and_lymphoid_tissue(1) 3 ACAGGAACTGGAGAAGACAGT 0.333 NA 4 18 0 0 0 0 NR1I2 8856 broad.mit.edu 37 3 119528935 119528935 + Silent SNP G G A TCGA-CV-7406-01A-11D-2078-08 TCGA-CV-7406-10A-01D-2078-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 8c9effa8-acb6-4db0-874a-8f0df386924c b00b903e-f57c-4c6c-b6b8-ae40489e6167 g.chr3:119528935G>A uc003edj.2 + 3 2064 c.225G>A c.(223-225)CTG>CTA p.L75L NR1I2_uc003edi.2_Silent_p.L75L|NR1I2_uc003edk.2_Silent_p.L114L|NR1I2_uc003edl.2_5'Flank NM_003889 NP_003880 O75469 NR1I2_HUMAN nuclear receptor subfamily 1, group I, member 2 75 Nuclear receptor.|Bipartite nuclear localization signal. drug export|exogenous drug catabolic process|negative regulation of transcription, DNA-dependent|positive regulation of transcription, DNA-dependent|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor|steroid metabolic process|xenobiotic metabolic process|xenobiotic transport nucleoplasm drug binding|protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|steroid hormone receptor activity|transcription coactivator activity|zinc ion binding ovary(2) 2 GBM - Glioblastoma multiforme(114;0.175) Estradiol(DB00783)|Ethinyl Estradiol(DB00977)|Rifampin(DB01045)|Vitamin E(DB00163) ACGCCCGGCTGAGGTGCCCCT 0.697 NA 10 58 0 0 0 0 GOLGB1 2804 broad.mit.edu 37 3 121448138 121448138 + Missense_Mutation SNP G G A TCGA-CV-7406-01A-11D-2078-08 TCGA-CV-7406-10A-01D-2078-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 8c9effa8-acb6-4db0-874a-8f0df386924c b00b903e-f57c-4c6c-b6b8-ae40489e6167 g.chr3:121448138G>A uc003eei.3 - 4 425 c.299C>T c.(298-300)GCG>GTG p.A100V GOLGB1_uc010hrc.2_Missense_Mutation_p.A100V|GOLGB1_uc003eej.3_Missense_Mutation_p.A61V|GOLGB1_uc011bjm.1_Missense_Mutation_p.A61V|GOLGB1_uc010hrd.1_Missense_Mutation_p.A100V NM_004487 NP_004478 Q14789 GOGB1_HUMAN golgi autoantigen, golgin subfamily b, 100 Potential.|Cytoplasmic (Potential). Golgi organization ER-Golgi intermediate compartment|Golgi membrane|Golgi stack|integral to membrane protein binding ovary(6)|breast(2)|skin(2) 10 GBM - Glioblastoma multiforme(114;0.0989) TTTGGCCTTCGCATGAAGTTT 0.363 NA 20 115 0 0 0 0 PLXNA1 5361 broad.mit.edu 37 3 126735460 126735460 + Missense_Mutation SNP G G C TCGA-CV-7406-01A-11D-2078-08 TCGA-CV-7406-10A-01D-2078-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 8c9effa8-acb6-4db0-874a-8f0df386924c b00b903e-f57c-4c6c-b6b8-ae40489e6167 g.chr3:126735460G>C uc003ejg.2 + 15 3050 c.3046G>C c.(3046-3048)GAG>CAG p.E1016Q NM_032242 NP_115618 Q9UIW2 PLXA1_HUMAN plexin A1 1039 IPT/TIG 2.|Extracellular (Potential). axon guidance integral to membrane|intracellular|plasma membrane semaphorin receptor activity ovary(1)|pancreas(1)|skin(1) 3 GBM - Glioblastoma multiforme(114;0.155) CACCAACCCTGAGGTGAAGTA 0.622 NA 21 107 0 0 0 0 KBTBD12 166348 broad.mit.edu 37 3 127642957 127642957 + Silent SNP G G A TCGA-CV-7406-01A-11D-2078-08 TCGA-CV-7406-10A-01D-2078-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 8c9effa8-acb6-4db0-874a-8f0df386924c b00b903e-f57c-4c6c-b6b8-ae40489e6167 g.chr3:127642957G>A uc010hsr.2 + 1 1056 c.1053G>A c.(1051-1053)AAG>AAA p.K351K KBTBD12_uc003ejy.3_Intron|KBTBD12_uc010hsq.2_Intron|KBTBD12_uc003eka.3_Intron|KBTBD12_uc003ejz.2_Silent_p.K351K NM_207335 NP_997218 Q3ZCT8 KBTBC_HUMAN kelch domain containing 6 351 ovary(1) 1 AAAAGAACAAGAATGTTGAAA 0.348 NA 18 87 0 0 0 0 ARMC8 25852 broad.mit.edu 37 3 137956364 137956364 + Missense_Mutation SNP G G T TCGA-CV-7406-01A-11D-2078-08 TCGA-CV-7406-10A-01D-2078-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 8c9effa8-acb6-4db0-874a-8f0df386924c b00b903e-f57c-4c6c-b6b8-ae40489e6167 g.chr3:137956364G>T uc003esa.1 + 10 1051 c.684G>T c.(682-684)AAG>AAT p.K228N ARMC8_uc003erw.2_Missense_Mutation_p.K228N|ARMC8_uc003erx.2_Missense_Mutation_p.K228N|ARMC8_uc003ery.2_Missense_Mutation_p.K200N|ARMC8_uc003erz.2_Missense_Mutation_p.K200N|ARMC8_uc011bmf.1_Missense_Mutation_p.K211N|ARMC8_uc011bmg.1_Missense_Mutation_p.K242N|ARMC8_uc011bmh.1_Missense_Mutation_p.K169N|ARMC8_uc003esb.1_Missense_Mutation_p.K200N|ARMC8_uc003esc.1_5'UTR NM_015396 NP_056211 Q8IUR7 ARMC8_HUMAN armadillo repeat containing 8 isoform 2 242 ARM 5. binding 0 TTTTTGTGAAGATGTTACAGA 0.328 NA 11 66 0.00400662 0.00412002 1 0 RASA2 5922 broad.mit.edu 37 3 141328818 141328818 + Missense_Mutation SNP T T G TCGA-CV-7406-01A-11D-2078-08 TCGA-CV-7406-10A-01D-2078-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 8c9effa8-acb6-4db0-874a-8f0df386924c b00b903e-f57c-4c6c-b6b8-ae40489e6167 g.chr3:141328818T>G uc003etz.1 + 23 2429 c.2429T>G c.(2428-2430)ATT>AGT p.I810S RASA2_uc010huq.1_Missense_Mutation_p.I814S|RASA2_uc003eua.1_Missense_Mutation_p.I811S|uc003eub.2_5'Flank NM_006506 NP_006497 Q15283 RASA2_HUMAN RAS p21 protein activator 2 810 intracellular signal transduction|negative regulation of Ras protein signal transduction intracellular membrane-bounded organelle|intrinsic to internal side of plasma membrane|perinuclear region of cytoplasm metal ion binding|Ras GTPase activator activity ovary(2)|lung(2)|breast(1)|skin(1) 6 TTTAAGACAATTCAGCAAATA 0.363 NA 20 86 0 0 0 0 PCOLCE2 26577 broad.mit.edu 37 3 142607677 142607677 + Missense_Mutation SNP G G A TCGA-CV-7406-01A-11D-2078-08 TCGA-CV-7406-10A-01D-2078-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 8c9effa8-acb6-4db0-874a-8f0df386924c b00b903e-f57c-4c6c-b6b8-ae40489e6167 g.chr3:142607677G>A uc003evd.2 - 1 258 c.62C>T c.(61-63)TCG>TTG p.S21L NM_013363 NP_037495 Q9UKZ9 PCOC2_HUMAN procollagen C-endopeptidase enhancer 2 21 extracellular region collagen binding|heparin binding|peptidase activator activity ovary(2)|skin(1) 3 CTGCTGCCGCGAGAGCTGGGT 0.692 NA 3 14 0 0 0 0 CP 1356 broad.mit.edu 37 3 148905959 148905959 + Missense_Mutation SNP G G A TCGA-CV-7406-01A-11D-2078-08 TCGA-CV-7406-10A-01D-2078-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 8c9effa8-acb6-4db0-874a-8f0df386924c b00b903e-f57c-4c6c-b6b8-ae40489e6167 g.chr3:148905959G>A uc003ewy.3 - 10 1997 c.1744C>T c.(1744-1746)CCT>TCT p.P582S CP_uc011bnr.1_RNA|CP_uc003ewx.3_Missense_Mutation_p.P363S|CP_uc003ewz.2_Missense_Mutation_p.P582S|CP_uc010hvf.1_Missense_Mutation_p.P308S NM_000096 NP_000087 P00450 CERU_HUMAN ceruloplasmin precursor 582 Plastocyanin-like 4.|F5/8 type A 2. cellular iron ion homeostasis|copper ion transport|transmembrane transport extracellular space chaperone binding|ferroxidase activity ovary(1) 1 Prostate(884;0.00217)|Hepatocellular(537;0.00826)|Myeloproliferative disorder(1037;0.0122)|all_neural(597;0.0189)|Melanoma(1037;0.152) LUSC - Lung squamous cell carcinoma(72;0.0473)|Lung(72;0.0607) Drotrecogin alfa(DB00055) AATACTGTAGGAAACAAATAG 0.343 NA 22 82 0 0 0 0 SLC33A1 9197 broad.mit.edu 37 3 155560316 155560316 + Missense_Mutation SNP C C T TCGA-CV-7406-01A-11D-2078-08 TCGA-CV-7406-10A-01D-2078-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 8c9effa8-acb6-4db0-874a-8f0df386924c b00b903e-f57c-4c6c-b6b8-ae40489e6167 g.chr3:155560316C>T uc003fan.3 - 2 1249 c.868G>A c.(868-870)GAA>AAA p.E290K SLC33A1_uc003fao.1_Missense_Mutation_p.E290K NM_004733 NP_004724 O00400 ACATN_HUMAN acetyl-coenzyme A transporter 290 Cytoplasmic (Potential). cell death|transmembrane transport endoplasmic reticulum membrane|Golgi membrane|integral to plasma membrane|membrane fraction acetyl-CoA transporter activity ovary(2)|large_intestine(1)|pancreas(1) 4 Lung(72;0.11)|LUSC - Lung squamous cell carcinoma(72;0.114) CCTTGTGTTTCTTCTTTTACT 0.338 NA 6 46 0 0 0 0 ZBBX 79740 broad.mit.edu 37 3 167033577 167033577 + Missense_Mutation SNP G G C TCGA-CV-7406-01A-11D-2078-08 TCGA-CV-7406-10A-01D-2078-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 8c9effa8-acb6-4db0-874a-8f0df386924c b00b903e-f57c-4c6c-b6b8-ae40489e6167 g.chr3:167033577G>C uc003fep.2 - 15 1558 c.1235C>G c.(1234-1236)CCT>CGT p.P412R ZBBX_uc011bpc.1_Missense_Mutation_p.P412R|ZBBX_uc003feq.2_Missense_Mutation_p.P383R NM_024687 NP_078963 A8MT70 ZBBX_HUMAN zinc finger, B-box domain containing 412 intracellular zinc ion binding ovary(2) 2 AACTTTGTAAGGCACAATATT 0.284 NA 10 41 0 0 0 0 PIK3CA 5290 broad.mit.edu 37 3 178936091 178936091 + Missense_Mutation SNP G G A rs104886003 TCGA-CV-7406-01A-11D-2078-08 TCGA-CV-7406-10A-01D-2078-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 8c9effa8-acb6-4db0-874a-8f0df386924c b00b903e-f57c-4c6c-b6b8-ae40489e6167 g.chr3:178936091G>A uc003fjk.2 + 10 1790 c.1633G>A c.(1633-1635)GAG>AAG p.E545K NM_006218 NP_006209 P42336 PK3CA_HUMAN phosphoinositide-3-kinase, catalytic, alpha 545 PI3K helical. E -> G (in KERSEB).|E -> A (in cancer).|E -> K (in KERSEB; shows an increase in lipid kinase activity; oncogenic in vivo; occurs in the interface between the PI3K helical domain and the nSH2 (N-terminal SH2) region of the p85 regulatory subunit and may reduce the inhibitory effect of p85; requires interaction with RAS to induce cellular transformation; enhances invadopodia-mediated extracellular matrix degradation and invasion in breast cancer cells). epidermal growth factor receptor signaling pathway|fibroblast growth factor receptor signaling pathway|insulin receptor signaling pathway|leukocyte migration|nerve growth factor receptor signaling pathway|phosphatidylinositol-mediated signaling|platelet activation|T cell costimulation|T cell receptor signaling pathway 1-phosphatidylinositol-3-kinase activity|ATP binding|phosphatidylinositol-4,5-bisphosphate 3-kinase activity p.E545K(735)|p.E545A(75)|p.E545G(55)|p.E545?(19)|p.E545D(15)|p.E545Q(12)|p.E545V(4) breast(1564)|large_intestine(776)|endometrium(246)|urinary_tract(195)|ovary(141)|skin(112)|stomach(98)|thyroid(77)|central_nervous_system(69)|lung(65)|upper_aerodigestive_tract(58)|haematopoietic_and_lymphoid_tissue(27)|cervix(25)|biliary_tract(22)|liver(20)|oesophagus(17)|pancreas(11)|penis(8)|pituitary(8)|autonomic_ganglia(4)|prostate(3)|kidney(2)|meninges(1)|eye(1)|NS(1)|soft_tissue(1)|bone(1) 3553 all_cancers(143;1.19e-17)|Ovarian(172;0.00769)|Breast(254;0.155) OV - Ovarian serous cystadenocarcinoma(80;9.59e-28)|GBM - Glioblastoma multiforme(14;0.003)|BRCA - Breast invasive adenocarcinoma(182;0.0282) TGAAATCACTGAGCAGGAGAA 0.353 E545K(RERFLCSQ1_LUNG)|E545K(KYSE510_OESOPHAGUS)|E545K(NCIH508_LARGE_INTESTINE)|E545K(HCC202_BREAST)|E545K(BFTC909_KIDNEY)|E545K(HCT15_LARGE_INTESTINE)|E545K(NCIH596_LUNG)|E545K(L363_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|E545K(DLD1_LARGE_INTESTINE)|E545K(ESS1_ENDOMETRIUM)|E545K(MDAMB361_BREAST)|E545K(MKN1_STOMACH)|E545K(MCF7_BREAST)|E545K(NCIH460_LUNG)|E545K(TCCSUP_URINARY_TRACT)|E545K(HSC4_UPPER_AERODIGESTIVE_TRACT)|E545K(BC3C_URINARY_TRACT)|E545K(HUH28_BILIARY_TRACT)|E545K(HT1197_URINARY_TRACT)|E545K(TE5_OESOPHAGUS) 57 Mis colorectal|gastric|gliobastoma|breast HNSCC(19;0.045)|TSP Lung(28;0.18) 8 62 0 0 0 0 HTR3D 200909 broad.mit.edu 37 3 183756393 183756393 + Silent SNP C C T TCGA-CV-7406-01A-11D-2078-08 TCGA-CV-7406-10A-01D-2078-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 8c9effa8-acb6-4db0-874a-8f0df386924c b00b903e-f57c-4c6c-b6b8-ae40489e6167 g.chr3:183756393C>T uc011bqv.1 + 7 1116 c.1116C>T c.(1114-1116)CTC>CTT p.L372L HTR3D_uc003fmj.2_Silent_p.L197L|HTR3D_uc011bqu.1_Silent_p.L322L|HTR3D_uc010hxp.2_Silent_p.L151L NM_001163646 NP_001157118 Q70Z44 5HT3D_HUMAN 5-hydroxytryptamine receptor 3 subunit D isoform 372 Cytoplasmic (Potential). integral to membrane|plasma membrane extracellular ligand-gated ion channel activity|receptor activity 0 all_cancers(143;2.33e-10)|Ovarian(172;0.0303) Epithelial(37;6.23e-36)|OV - Ovarian serous cystadenocarcinoma(80;6.48e-22) GCCCGGGTCTCACCCCCACCC 0.453 NA 4 30 0 0 0 0 ECE2 9718 broad.mit.edu 37 3 184005699 184005699 + Silent SNP C C T TCGA-CV-7406-01A-11D-2078-08 TCGA-CV-7406-10A-01D-2078-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 8c9effa8-acb6-4db0-874a-8f0df386924c b00b903e-f57c-4c6c-b6b8-ae40489e6167 g.chr3:184005699C>T uc003fni.3 + 11 1730 c.1692C>T c.(1690-1692)TTC>TTT p.F564F ECE2_uc011brh.1_Silent_p.F417F|ECE2_uc003fnl.3_Silent_p.F492F|ECE2_uc003fnm.3_Silent_p.F446F|ECE2_uc003fnk.3_Silent_p.F417F|ECE2_uc011bri.1_Silent_p.F479F|ECE2_uc010hxv.2_Silent_p.F208F NM_014693 NP_055508 O60344 ECE2_HUMAN endothelin converting enzyme 2 isoform A 564 Lumenal (Potential).|Endothelin-converting enzyme 2 region. brain development|cardioblast differentiation|cell-cell signaling|peptide hormone processing cytoplasmic vesicle membrane|Golgi membrane|integral to membrane metal ion binding|metalloendopeptidase activity|methyltransferase activity ovary(2)|skin(2) 4 all_cancers(143;1.39e-10)|Ovarian(172;0.0339) Epithelial(37;8.28e-34)|OV - Ovarian serous cystadenocarcinoma(80;2.72e-22) GGTCCCTCTTCGTGAAGGCCA 0.498 NA 15 58 0 0 0 0 CHRD 8646 broad.mit.edu 37 3 184104374 184104374 + Missense_Mutation SNP C C G TCGA-CV-7406-01A-11D-2078-08 TCGA-CV-7406-10A-01D-2078-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 8c9effa8-acb6-4db0-874a-8f0df386924c b00b903e-f57c-4c6c-b6b8-ae40489e6167 g.chr3:184104374C>G uc003fov.2 + 16 2273 c.2027C>G c.(2026-2028)TCT>TGT p.S676C CHRD_uc003fow.2_Missense_Mutation_p.S306C|CHRD_uc003fox.2_Missense_Mutation_p.S676C|CHRD_uc003foy.2_Missense_Mutation_p.S306C|CHRD_uc010hyc.2_Missense_Mutation_p.S266C|CHRD_uc011brr.1_Intron NM_003741 NP_003732 Q9H2X0 CHRD_HUMAN chordin precursor 676 BMP signaling pathway involved in spinal cord dorsal/ventral patterning|floor plate development|negative regulation of BMP signaling pathway|negative regulation of cell migration|positive regulation of cell adhesion|skeletal system development extracellular space cytokine binding skin(2)|ovary(1) 3 all_cancers(143;6.33e-11)|Ovarian(172;0.0339) Epithelial(37;4.96e-33)|OV - Ovarian serous cystadenocarcinoma(80;2.72e-22) GATACAGCCTCTGCTGCGCCG 0.711 NA 5 10 0 0 0 0 RTP1 132112 broad.mit.edu 37 3 186917628 186917628 + Missense_Mutation SNP G G A TCGA-CV-7406-01A-11D-2078-08 TCGA-CV-7406-10A-01D-2078-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 8c9effa8-acb6-4db0-874a-8f0df386924c b00b903e-f57c-4c6c-b6b8-ae40489e6167 g.chr3:186917628G>A uc003frg.2 + 2 592 c.562G>A c.(562-564)GGA>AGA p.G188R NM_153708 NP_714919 P59025 RTP1_HUMAN receptor transporting protein 1 188 Cytoplasmic (Potential). protein insertion into membrane cell surface|integral to membrane|plasma membrane olfactory receptor binding ovary(2)|breast(1) 3 all_cancers(143;5.33e-12)|Ovarian(172;0.0339) OV - Ovarian serous cystadenocarcinoma(80;5.56e-18) GBM - Glioblastoma multiforme(93;0.0269) GCGGCACCGCGGAGAGTTCTG 0.692 NA 10 37 0 0 0 0 C3orf59 151963 broad.mit.edu 37 3 192516720 192516720 + Missense_Mutation SNP G G C TCGA-CV-7406-01A-11D-2078-08 TCGA-CV-7406-10A-01D-2078-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 8c9effa8-acb6-4db0-874a-8f0df386924c b00b903e-f57c-4c6c-b6b8-ae40489e6167 g.chr3:192516720G>C uc011bsp.1 - 2 1252 c.931C>G c.(931-933)CAG>GAG p.Q311E NM_178496 NP_848591 Q8IYB1 M21D2_HUMAN hypothetical protein LOC151963 311 0 all_cancers(143;1.56e-08)|Ovarian(172;0.0634) OV - Ovarian serous cystadenocarcinoma(49;2.8e-18)|LUSC - Lung squamous cell carcinoma(58;8.04e-06)|Lung(62;8.62e-06) GBM - Glioblastoma multiforme(46;3.86e-05) TTGCAGGCCTGATAGGCCTGC 0.557 NA 14 48 0 0 0 0 LSG1 55341 broad.mit.edu 37 3 194362968 194362968 + Silent SNP C C G TCGA-CV-7406-01A-11D-2078-08 TCGA-CV-7406-10A-01D-2078-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 8c9effa8-acb6-4db0-874a-8f0df386924c b00b903e-f57c-4c6c-b6b8-ae40489e6167 g.chr3:194362968C>G uc003fui.2 - 14 2121 c.1806G>C c.(1804-1806)GTG>GTC p.V602V NM_018385 NP_060855 Q9H089 LSG1_HUMAN large subunit GTPase 1 602 nuclear export|protein transport Cajal body|endoplasmic reticulum GTP binding|hydrolase activity 0 all_cancers(143;1.68e-08)|Ovarian(172;0.0634) OV - Ovarian serous cystadenocarcinoma(49;4.34e-18)|LUSC - Lung squamous cell carcinoma(58;3.55e-06)|Lung(62;4.19e-06) GBM - Glioblastoma multiforme(46;7.55e-06) TCAAAGCCCTCACATTCTCCT 0.488 NA 14 53 0 0 0 0 C3orf21 152002 broad.mit.edu 37 3 194991445 194991445 + Nonsense_Mutation SNP G G A TCGA-CV-7406-01A-11D-2078-08 TCGA-CV-7406-10A-01D-2078-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 8c9effa8-acb6-4db0-874a-8f0df386924c b00b903e-f57c-4c6c-b6b8-ae40489e6167 g.chr3:194991445G>A uc003fum.3 - 1 451 c.343C>T c.(343-345)CAG>TAG p.Q115* NM_152531 NP_689744 Q8NBI6 CC021_HUMAN hypothetical protein LOC152002 115 integral to membrane transferase activity, transferring glycosyl groups 0 all_cancers(143;9.33e-09)|Ovarian(172;0.0634) Epithelial(36;1.73e-20)|all cancers(36;1.42e-18)|OV - Ovarian serous cystadenocarcinoma(49;1.56e-17)|Lung(62;0.000117)|LUSC - Lung squamous cell carcinoma(58;0.000146) GBM - Glioblastoma multiforme(46;1.36e-05) GCCTTGGCCTGCAGCGCGGCA 0.687 NA 10 22 0 0 0 0 ADRA2C 152 broad.mit.edu 37 4 3768899 3768899 + Missense_Mutation SNP C C G TCGA-CV-7406-01A-11D-2078-08 TCGA-CV-7406-10A-01D-2078-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 8c9effa8-acb6-4db0-874a-8f0df386924c b00b903e-f57c-4c6c-b6b8-ae40489e6167 g.chr4:3768899C>G uc003ghm.2 + 1 604 c.566C>G c.(565-567)TCG>TGG p.S189W ADRA2C_uc010icx.2_Missense_Mutation_p.S189W NM_000683 NP_000674 P18825 ADA2C_HUMAN alpha-2C-adrenergic receptor 189 Helical; Name=4; (By similarity). activation of MAPK activity by adrenergic receptor signaling pathway|activation of protein kinase B activity|blood coagulation|cell-cell signaling|energy reserve metabolic process|epidermal growth factor receptor transactivation by G-protein coupled receptor signaling pathway|negative regulation of epinephrine secretion|negative regulation of norepinephrine secretion|positive regulation of neuron differentiation|regulation of insulin secretion endosome|integral to plasma membrane alpha-2A adrenergic receptor binding|alpha2-adrenergic receptor activity|epinephrine binding|protein heterodimerization activity|protein homodimerization activity 0 UCEC - Uterine corpus endometrioid carcinoma (64;0.163) Bethanidine(DB00217)|Brimonidine(DB00484)|Debrisoquin(DB04840)|Fenoldopam(DB00800)|Guanadrel Sulfate(DB00226)|Guanethidine(DB01170)|Lofexidine(DB04948)|Norepinephrine(DB00368)|Yohimbine(DB01392) CCGCTGGTCTCGCTCTACCGC 0.677 NA 3 4 0 0 0 0 CLOCK 9575 broad.mit.edu 37 4 56310930 56310930 + Missense_Mutation SNP C C A TCGA-CV-7406-01A-11D-2078-08 TCGA-CV-7406-10A-01D-2078-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 8c9effa8-acb6-4db0-874a-8f0df386924c b00b903e-f57c-4c6c-b6b8-ae40489e6167 g.chr4:56310930C>A uc003haz.1 - 20 2488 c.1562G>T c.(1561-1563)GGA>GTA p.G521V CLOCK_uc003hba.1_Missense_Mutation_p.G521V|CLOCK_uc010igu.1_RNA NM_004898 NP_004889 O15516 CLOCK_HUMAN clock 521 Implicated in the circadian rhythmicity (By similarity). circadian rhythm|photoperiodism|positive regulation of transcription from RNA polymerase II promoter cytoplasm|transcription factor complex DNA binding|histone acetyltransferase activity|sequence-specific DNA binding transcription factor activity|signal transducer activity central_nervous_system(2)|ovary(1) 3 Lung NSC(11;0.00335)|Glioma(25;0.08)|all_epithelial(27;0.0992)|all_neural(26;0.101) LUSC - Lung squamous cell carcinoma(4;1.62e-07)|Lung(4;1.34e-06)|Epithelial(7;0.0107) TTGCATGGCTCCTAATTGAGC 0.338 NA 19 24 6.5e-13 6.98e-13 1 0 SLC4A4 8671 broad.mit.edu 37 4 72397811 72397811 + Silent SNP C C T TCGA-CV-7406-01A-11D-2078-08 TCGA-CV-7406-10A-01D-2078-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 8c9effa8-acb6-4db0-874a-8f0df386924c b00b903e-f57c-4c6c-b6b8-ae40489e6167 g.chr4:72397811C>T uc003hfy.2 + 17 2316 c.2199C>T c.(2197-2199)ATC>ATT p.I733I SLC4A4_uc010iic.2_Silent_p.I733I|SLC4A4_uc010iib.2_Silent_p.I733I|SLC4A4_uc003hfz.2_Silent_p.I733I|SLC4A4_uc003hgc.3_Silent_p.I689I|SLC4A4_uc010iid.2_5'UTR NM_001098484 NP_001091954 Q9Y6R1 S4A4_HUMAN solute carrier family 4, sodium bicarbonate 733 Helical; (Potential). basolateral plasma membrane|integral to plasma membrane inorganic anion exchanger activity|protein binding|sodium:bicarbonate symporter activity ovary(3)|kidney(1)|skin(1) 5 Lung(101;0.0739)|LUSC - Lung squamous cell carcinoma(112;0.225) TTGCCATTATCTTGTCCATTC 0.378 NA 13 38 0 0 0 0 TIGD2 166815 broad.mit.edu 37 4 90034531 90034531 + Missense_Mutation SNP C C G TCGA-CV-7406-01A-11D-2078-08 TCGA-CV-7406-10A-01D-2078-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 8c9effa8-acb6-4db0-874a-8f0df386924c b00b903e-f57c-4c6c-b6b8-ae40489e6167 g.chr4:90034531C>G uc003hsk.2 + 1 564 c.406C>G c.(406-408)CCA>GCA p.P136A FAM13A_uc003hsh.1_5'Flank NM_145715 NP_663761 Q4W5G0 TIGD2_HUMAN tigger transposable element derived 2 136 HTH CENPB-type. regulation of transcription, DNA-dependent chromosome, centromeric region|nucleus DNA binding 0 Hepatocellular(203;0.114) OV - Ovarian serous cystadenocarcinoma(123;3.86e-05) Ccatggtattccaaaggctgc 0.194 NA 20 46 0 0 0 0 FGG 2266 broad.mit.edu 37 4 155530881 155530881 + Silent SNP C C T TCGA-CV-7406-01A-11D-2078-08 TCGA-CV-7406-10A-01D-2078-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 8c9effa8-acb6-4db0-874a-8f0df386924c b00b903e-f57c-4c6c-b6b8-ae40489e6167 g.chr4:155530881C>T uc003ioj.2 - 6 708 c.567G>A c.(565-567)CAG>CAA p.Q189Q FGG_uc003iog.2_Silent_p.Q189Q|FGG_uc003ioh.2_Silent_p.Q197Q|FGG_uc010ipx.2_Silent_p.Q17Q|FGG_uc010ipy.2_5'UTR|FGG_uc003ioi.2_5'UTR|FGG_uc003iok.2_Silent_p.Q197Q NM_021870 NP_068656 P02679 FIBG_HUMAN fibrinogen, gamma chain isoform gamma-B 189 Fibrinogen C-terminal. platelet activation|platelet degranulation|protein polymerization|response to calcium ion|signal transduction external side of plasma membrane|fibrinogen complex|platelet alpha granule lumen eukaryotic cell surface binding|protein binding, bridging|receptor binding 0 all_hematologic(180;0.215) Renal(120;0.0458) Sucralfate(DB00364) AAAGCCCGCTCTGTTTAGCTC 0.418 NA 17 57 0 0 0 0 TRIO 7204 broad.mit.edu 37 5 14368963 14368963 + Silent SNP C C G TCGA-CV-7406-01A-11D-2078-08 TCGA-CV-7406-10A-01D-2078-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 8c9effa8-acb6-4db0-874a-8f0df386924c b00b903e-f57c-4c6c-b6b8-ae40489e6167 g.chr5:14368963C>G uc003jff.2 + 17 3027 c.3021C>G c.(3019-3021)CTC>CTG p.L1007L TRIO_uc003jfg.2_RNA|TRIO_uc011cna.1_Silent_p.L958L|TRIO_uc003jfh.1_Silent_p.L656L NM_007118 NP_009049 O75962 TRIO_HUMAN triple functional domain (PTPRF interacting) 1007 apoptosis|axon guidance|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction|transmembrane receptor protein tyrosine phosphatase signaling pathway cytosol ATP binding|protein serine/threonine kinase activity|Rho guanyl-nucleotide exchange factor activity skin(4)|central_nervous_system(3)|ovary(3)|large_intestine(2)|stomach(2)|breast(2)|upper_aerodigestive_tract(1)|kidney(1) 18 Lung NSC(4;0.000742) AAGATCGCCTCAAGCTCGTCA 0.522 NA 10 68 0 0 0 0 PDZD2 23037 broad.mit.edu 37 5 32088427 32088427 + Missense_Mutation SNP C C G TCGA-CV-7406-01A-11D-2078-08 TCGA-CV-7406-10A-01D-2078-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 8c9effa8-acb6-4db0-874a-8f0df386924c b00b903e-f57c-4c6c-b6b8-ae40489e6167 g.chr5:32088427C>G uc003jhl.2 + 20 5261 c.4873C>G c.(4873-4875)CCT>GCT p.P1625A PDZD2_uc003jhm.2_Missense_Mutation_p.P1625A NM_178140 NP_835260 O15018 PDZD2_HUMAN PDZ domain containing 2 1625 cell adhesion cell-cell junction|endoplasmic reticulum|extracellular region|nucleus central_nervous_system(4)|ovary(2)|skin(2)|large_intestine(1) 9 TGCCATCTGTCCTGCCTCAGC 0.557 NA 54 124 0 0 0 0 HCN1 348980 broad.mit.edu 37 5 45353208 45353208 + Silent SNP C C T TCGA-CV-7406-01A-11D-2078-08 TCGA-CV-7406-10A-01D-2078-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 8c9effa8-acb6-4db0-874a-8f0df386924c b00b903e-f57c-4c6c-b6b8-ae40489e6167 g.chr5:45353208C>T uc003jok.2 - 5 1396 c.1371G>A c.(1369-1371)CTG>CTA p.L457L NM_021072 NP_066550 O60741 HCN1_HUMAN hyperpolarization activated cyclic 457 Cytoplasmic (Potential). integral to membrane cAMP binding|sodium channel activity|voltage-gated potassium channel activity ovary(1) 1 TTACCTCTCTCAGAGGATCAT 0.343 NA 13 32 0 0 0 0 MAP1B 4131 broad.mit.edu 37 5 71494584 71494584 + Missense_Mutation SNP C C T TCGA-CV-7406-01A-11D-2078-08 TCGA-CV-7406-10A-01D-2078-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 8c9effa8-acb6-4db0-874a-8f0df386924c b00b903e-f57c-4c6c-b6b8-ae40489e6167 g.chr5:71494584C>T uc003kbw.3 + 5 5643 c.5402C>T c.(5401-5403)TCA>TTA p.S1801L MAP1B_uc010iyw.1_Missense_Mutation_p.S1818L|MAP1B_uc010iyx.1_Missense_Mutation_p.S1675L|MAP1B_uc010iyy.1_Missense_Mutation_p.S1675L NM_005909 NP_005900 P46821 MAP1B_HUMAN microtubule-associated protein 1B 1801 microtubule|microtubule associated complex structural molecule activity large_intestine(2)|ovary(1)|central_nervous_system(1)|pancreas(1) 5 Lung NSC(167;0.00202)|Ovarian(174;0.0175)|Prostate(461;0.142)|Breast(144;0.198) OV - Ovarian serous cystadenocarcinoma(47;7.99e-54) CCTACTTTTTCAGATTCTACC 0.473 NA 13 63 0 0 0 0 ENC1 8507 broad.mit.edu 37 5 73931590 73931590 + Missense_Mutation SNP G G C TCGA-CV-7406-01A-11D-2078-08 TCGA-CV-7406-10A-01D-2078-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 8c9effa8-acb6-4db0-874a-8f0df386924c b00b903e-f57c-4c6c-b6b8-ae40489e6167 g.chr5:73931590G>C uc003kdc.3 - 2 1852 c.721C>G c.(721-723)CTG>GTG p.L241V ENC1_uc011css.1_Missense_Mutation_p.L168V NM_003633 NP_003624 O14682 ENC1_HUMAN ectodermal-neural cortex (with BTB-like domain) 241 nervous system development cytoplasm|cytoskeleton|nuclear matrix actin binding ovary(1)|pancreas(1)|skin(1) 3 all_lung(232;0.0154)|Lung NSC(167;0.0331)|Ovarian(174;0.0798) OV - Ovarian serous cystadenocarcinoma(47;1.45e-59) ATGGCTGGCAGAAGTGCCAGC 0.483 NA 22 65 0 0 0 0 ANKRD34B 340120 broad.mit.edu 37 5 79855801 79855801 + Missense_Mutation SNP G G T TCGA-CV-7406-01A-11D-2078-08 TCGA-CV-7406-10A-01D-2078-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 8c9effa8-acb6-4db0-874a-8f0df386924c b00b903e-f57c-4c6c-b6b8-ae40489e6167 g.chr5:79855801G>T uc010jam.2 - 4 388 c.38C>A c.(37-39)TCC>TAC p.S13Y ANKRD34B_uc003kgw.2_Missense_Mutation_p.S13Y|ANKRD34B_uc010jan.2_Missense_Mutation_p.S13Y NM_001004441 NP_001004441 A5PLL1 AN34B_HUMAN ankyrin repeat domain 34B 13 ANK 1. cytoplasm|nucleus pancreas(1) 1 Lung NSC(167;0.0427)|all_lung(232;0.0464)|Ovarian(174;0.113) OV - Ovarian serous cystadenocarcinoma(54;2.17e-46)|Epithelial(54;5.64e-41)|all cancers(79;3.24e-36) TTTGATCAAGGAATTTCCTTC 0.458 NA 15 58 1.57e-10 1.69e-10 1 0 XRCC4 7518 broad.mit.edu 37 5 82491695 82491695 + Missense_Mutation SNP A A C TCGA-CV-7406-01A-11D-2078-08 TCGA-CV-7406-10A-01D-2078-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 8c9effa8-acb6-4db0-874a-8f0df386924c b00b903e-f57c-4c6c-b6b8-ae40489e6167 g.chr5:82491695A>C uc003kib.2 + 4 550 c.422A>C c.(421-423)AAT>ACT p.N141T XRCC4_uc003kia.1_Missense_Mutation_p.N141T|XRCC4_uc003kid.2_Missense_Mutation_p.N141T|XRCC4_uc003kic.2_Missense_Mutation_p.N141T|XRCC4_uc003kie.2_Missense_Mutation_p.N141T|XRCC4_uc003kif.1_Missense_Mutation_p.N141T NM_022406 NP_071801 Q13426 XRCC4_HUMAN X-ray repair cross complementing protein 4 141 Potential. DNA ligation involved in DNA repair|double-strand break repair via nonhomologous end joining|initiation of viral infection|positive regulation of ligase activity|provirus integration|response to X-ray cytosol|DNA ligase IV complex|DNA-dependent protein kinase-DNA ligase 4 complex|nucleoplasm DNA binding|protein C-terminus binding skin(3) 3 Lung NSC(167;0.00132)|all_lung(232;0.00154)|Ovarian(174;0.034) OV - Ovarian serous cystadenocarcinoma(54;1.44e-38)|Epithelial(54;3.72e-33)|all cancers(79;9.22e-28) CAAGCCAAAAATGAGCACCTG 0.403 NA NHEJ 10 72 0 0 0 0 GPR98 84059 broad.mit.edu 37 5 89943367 89943367 + Silent SNP C C T TCGA-CV-7406-01A-11D-2078-08 TCGA-CV-7406-10A-01D-2078-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 8c9effa8-acb6-4db0-874a-8f0df386924c b00b903e-f57c-4c6c-b6b8-ae40489e6167 g.chr5:89943367C>T uc003kju.2 + 17 3171 c.3075C>T c.(3073-3075)CTC>CTT p.L1025L GPR98_uc003kjt.2_5'UTR NM_032119 NP_115495 Q8WXG9 GPR98_HUMAN G protein-coupled receptor 98 precursor 1025 Extracellular (Potential). cell communication|cell-cell adhesion|maintenance of organ identity|neuropeptide signaling pathway|photoreceptor cell maintenance cell surface|cytoplasm|integral to membrane|plasma membrane calcium ion binding|G-protein coupled receptor activity ovary(11)|central_nervous_system(3)|pancreas(2) 16 all_cancers(142;1.05e-09)|all_epithelial(76;1.81e-12)|all_lung(232;5.41e-06)|Lung NSC(167;1.72e-05)|Ovarian(174;0.00948)|Colorectal(57;0.133)|Breast(839;0.192) OV - Ovarian serous cystadenocarcinoma(54;7.01e-30)|Epithelial(54;6.79e-25)|all cancers(79;1.88e-20) TTACAGTTCTCAGAAATGGAT 0.433 NA 20 40 0 0 0 0 TTC37 9652 broad.mit.edu 37 5 94876457 94876457 + Nonsense_Mutation SNP C C T TCGA-CV-7406-01A-11D-2078-08 TCGA-CV-7406-10A-01D-2078-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 8c9effa8-acb6-4db0-874a-8f0df386924c b00b903e-f57c-4c6c-b6b8-ae40489e6167 g.chr5:94876457C>T uc003klb.2 - 8 750 c.480G>A c.(478-480)TGG>TGA p.W160* TTC37_uc010jbf.1_Nonsense_Mutation_p.W112* NM_014639 NP_055454 Q6PGP7 TTC37_HUMAN tetratricopeptide repeat domain 37 160 binding ovary(3)|pancreas(1) 4 TCAATTTTCTCCATAGTTGAT 0.378 NA 27 65 0 0 0 0 RAD50 10111 broad.mit.edu 37 5 131915735 131915735 + Missense_Mutation SNP G G A TCGA-CV-7406-01A-11D-2078-08 TCGA-CV-7406-10A-01D-2078-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 8c9effa8-acb6-4db0-874a-8f0df386924c b00b903e-f57c-4c6c-b6b8-ae40489e6167 g.chr5:131915735G>A uc003kxi.2 + 5 1120 c.733G>A c.(733-735)GAG>AAG p.E245K RAD50_uc003kxg.1_Missense_Mutation_p.E146K|RAD50_uc003kxh.2_Missense_Mutation_p.E106K NM_005732 NP_005723 Q92878 RAD50_HUMAN RAD50 homolog isoform 1 245 Potential. DNA duplex unwinding|double-strand break repair via homologous recombination|positive regulation of kinase activity|positive regulation of protein autophosphorylation|reciprocal meiotic recombination|regulation of mitotic recombination|telomere maintenance via telomerase Mre11 complex|nuclear chromosome, telomeric region|nucleoplasm ATP binding|DNA binding|nuclease activity|protein binding, bridging|zinc ion binding lung(2)|ovary(1)|skin(1) 4 all_cancers(142;0.0368)|Breast(839;0.198) KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365) CAAATCCTATGAGAATGAACT 0.229 NA Homologous_recombination 33 66 0 0 0 0 EGR1 1958 broad.mit.edu 37 5 137803417 137803417 + Missense_Mutation SNP G G A TCGA-CV-7406-01A-11D-2078-08 TCGA-CV-7406-10A-01D-2078-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 8c9effa8-acb6-4db0-874a-8f0df386924c b00b903e-f57c-4c6c-b6b8-ae40489e6167 g.chr5:137803417G>A uc003ldb.1 + 2 1549 c.1279G>A c.(1279-1281)GAC>AAC p.D427N EGR1_uc011cyu.1_Intron NM_001964 NP_001955 P18146 EGR1_HUMAN early growth response 1 427 cellular response to heparin|cellular response to mycophenolic acid|glomerular mesangial cell proliferation|interleukin-1-mediated signaling pathway|positive regulation of glomerular metanephric mesangial cell proliferation|positive regulation of transcription from RNA polymerase II promoter|regulation of protein sumoylation|transcription from RNA polymerase II promoter|type I interferon-mediated signaling pathway cytoplasm|nucleus histone acetyltransferase binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding ovary(1) 1 KIRC - Kidney renal clear cell carcinoma(527;0.004)|Kidney(363;0.00592) CAAGAAAGCAGACAAAAGTGT 0.323 NA 12 32 0 0 0 0 PSD2 84249 broad.mit.edu 37 5 139192996 139192996 + Silent SNP C C T TCGA-CV-7406-01A-11D-2078-08 TCGA-CV-7406-10A-01D-2078-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 8c9effa8-acb6-4db0-874a-8f0df386924c b00b903e-f57c-4c6c-b6b8-ae40489e6167 g.chr5:139192996C>T uc003leu.1 + 3 679 c.474C>T c.(472-474)CTC>CTT p.L158L NM_032289 NP_115665 Q9BQI7 PSD2_HUMAN pleckstrin and Sec7 domain containing 2 158 regulation of ARF protein signal transduction cytoplasm|integral to membrane ARF guanyl-nucleotide exchange factor activity ovary(1) 1 KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191) ACAGCAGCCTCGACTCCCTAG 0.652 NA 27 59 0 0 0 0 PCDHGA4 56111 broad.mit.edu 37 5 140735361 140735361 + Silent SNP C C T TCGA-CV-7406-01A-11D-2078-08 TCGA-CV-7406-10A-01D-2078-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 8c9effa8-acb6-4db0-874a-8f0df386924c b00b903e-f57c-4c6c-b6b8-ae40489e6167 g.chr5:140735361C>T uc003ljq.1 + 1 594 c.594C>T c.(592-594)CGC>CGT p.R198R PCDHGA1_uc003lji.1_Intron|PCDHGA2_uc003ljk.1_Intron|PCDHGA3_uc003ljm.1_Intron|PCDHGA3_uc010jfx.1_Intron|PCDHGB1_uc003ljo.1_Intron|PCDHGA4_uc003ljp.1_Silent_p.R198R NM_018917 NP_061740 Q9Y5G9 PCDG4_HUMAN protocadherin gamma subfamily A, 4 isoform 1 198 Extracellular (Potential).|Cadherin 2. homophilic cell adhesion integral to membrane|plasma membrane calcium ion binding 0 KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191) TGCTGGAACGCGCTCTAGATC 0.567 NA 7 8 0 0 0 0 PCDHGA12 26025 broad.mit.edu 37 5 140811312 140811312 + Missense_Mutation SNP C C T TCGA-CV-7406-01A-11D-2078-08 TCGA-CV-7406-10A-01D-2078-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 8c9effa8-acb6-4db0-874a-8f0df386924c b00b903e-f57c-4c6c-b6b8-ae40489e6167 g.chr5:140811312C>T uc003lkt.1 + 1 1155 c.986C>T c.(985-987)GCG>GTG p.A329V PCDHGA1_uc003lji.1_Intron|PCDHGA2_uc003ljk.1_Intron|PCDHGA3_uc003ljm.1_Intron|PCDHGA3_uc010jfx.1_Intron|PCDHGB1_uc003ljo.1_Intron|PCDHGA4_uc003ljq.1_Intron|PCDHGB2_uc003ljs.1_Intron|PCDHGA5_uc003lju.1_Intron|PCDHGB3_uc003ljw.1_Intron|PCDHGA6_uc003ljy.1_Intron|PCDHGA7_uc003lka.1_Intron|PCDHGB4_uc003lkc.1_Intron|PCDHGA8_uc003lkd.1_Intron|PCDHGB5_uc003lkf.1_Intron|PCDHGA9_uc003lkh.1_Intron|PCDHGB6_uc003lkj.1_Intron|PCDHGA10_uc003lkl.1_Intron|PCDHGB7_uc003lkn.1_Intron|PCDHGA11_uc003lkp.1_Intron|PCDHGA11_uc003lkq.1_Intron|PCDHGA12_uc011dba.1_Missense_Mutation_p.A329V NM_003735 NP_003726 O60330 PCDGC_HUMAN protocadherin gamma subfamily A, 12 isoform 1 329 Cadherin 3.|Extracellular (Potential). homophilic cell adhesion integral to membrane|plasma membrane calcium ion binding ovary(2)|pancreas(1)|skin(1) 4 KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191) GGATATTCTGCGCGAGCCAAA 0.507 NA 23 55 0 0 0 0 SPRY4 81848 broad.mit.edu 37 5 141694650 141694650 + Silent SNP G G A TCGA-CV-7406-01A-11D-2078-08 TCGA-CV-7406-10A-01D-2078-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 8c9effa8-acb6-4db0-874a-8f0df386924c b00b903e-f57c-4c6c-b6b8-ae40489e6167 g.chr5:141694650G>A uc003lml.2 - 2 283 c.24C>T c.(22-24)AGC>AGT p.S8S SPRY4_uc010jgi.1_Silent_p.S31S NM_001127496 NP_001120968 Q9C004 SPY4_HUMAN sprouty homolog 4 isoform 2 8 multicellular organismal development cytoplasm|ruffle membrane protein binding ovary(1)|lung(1) 2 all_hematologic(541;0.118) KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191) TCAAGGGGGCGCTCTGTGGGA 0.632 NA Testicular_Cancer_Familial_Clustering_of 10 21 0 0 0 0 EBF1 1879 broad.mit.edu 37 5 158140039 158140039 + Silent SNP C C T TCGA-CV-7406-01A-11D-2078-08 TCGA-CV-7406-10A-01D-2078-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 8c9effa8-acb6-4db0-874a-8f0df386924c b00b903e-f57c-4c6c-b6b8-ae40489e6167 g.chr5:158140039C>T uc010jip.2 - 13 1610 c.1308G>A c.(1306-1308)GTG>GTA p.V436V EBF1_uc011ddw.1_Silent_p.V304V|EBF1_uc011ddx.1_Silent_p.V437V|EBF1_uc003lxl.3_Silent_p.V405V NM_024007 NP_076870 Q9UH73 COE1_HUMAN early B-cell factor 436 multicellular organismal development nucleus DNA binding|metal ion binding HMGA2/EBF1(2) soft_tissue(2)|ovary(1)|central_nervous_system(1)|pancreas(1) 5 Renal(175;0.00196) Acute lymphoblastic leukemia(3;2.99e-06)|all_hematologic(3;0.000772)|Medulloblastoma(196;0.037)|all_neural(177;0.143) Kidney(164;7.83e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525) TGAACGAATTCACGCCCATCA 0.577 NA T HMGA2 lipoma 22 45 0 0 0 0 ODZ2 57451 broad.mit.edu 37 5 167645222 167645222 + Silent SNP G G A TCGA-CV-7406-01A-11D-2078-08 TCGA-CV-7406-10A-01D-2078-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 8c9effa8-acb6-4db0-874a-8f0df386924c b00b903e-f57c-4c6c-b6b8-ae40489e6167 g.chr5:167645222G>A uc010jjd.2 + 23 4299 c.4299G>A c.(4297-4299)GAG>GAA p.E1433E ODZ2_uc003lzr.3_Silent_p.E1203E|ODZ2_uc003lzt.3_Silent_p.E806E|ODZ2_uc010jje.2_Silent_p.E697E NM_001122679 NP_001116151 odz, odd Oz/ten-m homolog 2 ovary(6)|central_nervous_system(4) 10 Renal(175;0.00124)|Lung NSC(126;0.136)|all_lung(126;0.242) Medulloblastoma(196;0.0241)|all_neural(177;0.026) Kidney(164;7.53e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525) all cancers(165;0.0444)|OV - Ovarian serous cystadenocarcinoma(192;0.0694)|Epithelial(171;0.124) GAATCACCGAGAACCACCAAG 0.507 NA 43 110 0 0 0 0 SERPINB1 1992 broad.mit.edu 37 6 2838863 2838863 + Missense_Mutation SNP C C T TCGA-CV-7406-01A-11D-2078-08 TCGA-CV-7406-10A-01D-2078-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 8c9effa8-acb6-4db0-874a-8f0df386924c b00b903e-f57c-4c6c-b6b8-ae40489e6167 g.chr6:2838863C>T uc003mub.2 - 3 270 c.226G>A c.(226-228)GAT>AAT p.D76N SERPINB1_uc003muc.2_5'UTR NM_030666 NP_109591 P30740 ILEU_HUMAN serine (or cysteine) proteinase inhibitor, clade 76 regulation of proteolysis cytoplasm|extracellular space serine-type endopeptidase inhibitor activity breast(4)|ovary(1) 5 Ovarian(93;0.0412) OV - Ovarian serous cystadenocarcinoma(45;0.0717) TTGTTGATATCAGCATTCAGA 0.338 NA 12 38 0 0 0 0 ZNF184 7738 broad.mit.edu 37 6 27419348 27419348 + Missense_Mutation SNP G G A TCGA-CV-7406-01A-11D-2078-08 TCGA-CV-7406-10A-01D-2078-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 8c9effa8-acb6-4db0-874a-8f0df386924c b00b903e-f57c-4c6c-b6b8-ae40489e6167 g.chr6:27419348G>A uc003njj.2 - 5 2801 c.1990C>T c.(1990-1992)CAC>TAC p.H664Y ZNF184_uc010jqv.2_Missense_Mutation_p.H664Y|ZNF184_uc003nji.2_Missense_Mutation_p.H664Y NM_007149 NP_009080 Q99676 ZN184_HUMAN zinc finger protein 184 664 C2H2-type 16. regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding ovary(1) 1 TCCCCAGTGTGAATTCGTTGA 0.423 NA 24 45 0 0 0 0 ZNF184 7738 broad.mit.edu 37 6 27419878 27419878 + Missense_Mutation SNP G G A TCGA-CV-7406-01A-11D-2078-08 TCGA-CV-7406-10A-01D-2078-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 8c9effa8-acb6-4db0-874a-8f0df386924c b00b903e-f57c-4c6c-b6b8-ae40489e6167 g.chr6:27419878G>A uc003njj.2 - 5 2271 c.1460C>T c.(1459-1461)TCA>TTA p.S487L ZNF184_uc010jqv.2_Missense_Mutation_p.S487L|ZNF184_uc003nji.2_Missense_Mutation_p.S487L NM_007149 NP_009080 Q99676 ZN184_HUMAN zinc finger protein 184 487 C2H2-type 10. regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding ovary(1) 1 AGTAAGGGATGAGCAGTAACT 0.403 NA 25 59 0 0 0 0 GNL1 2794 broad.mit.edu 37 6 30521243 30521243 + Missense_Mutation SNP G G A TCGA-CV-7406-01A-11D-2078-08 TCGA-CV-7406-10A-01D-2078-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 8c9effa8-acb6-4db0-874a-8f0df386924c b00b903e-f57c-4c6c-b6b8-ae40489e6167 g.chr6:30521243G>A uc003nqh.2 - 6 1720 c.692C>T c.(691-693)CCG>CTG p.P231L GNL1_uc011dmi.1_Missense_Mutation_p.P93L|GNL1_uc011dmj.1_Missense_Mutation_p.P229L|GNL1_uc011dmk.1_Intron NM_005275 NP_005266 P36915 GNL1_HUMAN guanine nucleotide binding protein-like 1 231 response to DNA damage stimulus|signal transduction|T cell mediated immunity extracellular space|intracellular GTP binding|structural molecule activity ovary(3) 3 AAGAGCTGGCGGGGCCAGATC 0.542 NA 30 82 0 0 0 0 SPDEF 25803 broad.mit.edu 37 6 34507128 34507128 + Missense_Mutation SNP G G A TCGA-CV-7406-01A-11D-2078-08 TCGA-CV-7406-10A-01D-2078-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 8c9effa8-acb6-4db0-874a-8f0df386924c b00b903e-f57c-4c6c-b6b8-ae40489e6167 g.chr6:34507128G>A uc003ojq.1 - 5 1143 c.728C>T c.(727-729)TCA>TTA p.S243L SPDEF_uc011dsq.1_Missense_Mutation_p.S227L NM_012391 NP_036523 O95238 SPDEF_HUMAN SAM pointed domain containing ets transcription 243 negative regulation of survival gene product expression|negative regulation of transcription from RNA polymerase II promoter nucleus sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity skin(3)|ovary(1)|central_nervous_system(1) 5 CCCGGAGCATGATGAGTCCAC 0.622 NA 42 126 0 0 0 0 FAM135A 57579 broad.mit.edu 37 6 71190648 71190648 + Missense_Mutation SNP C C T TCGA-CV-7406-01A-11D-2078-08 TCGA-CV-7406-10A-01D-2078-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 8c9effa8-acb6-4db0-874a-8f0df386924c b00b903e-f57c-4c6c-b6b8-ae40489e6167 g.chr6:71190648C>T uc003pfj.2 + 7 720 c.587C>T c.(586-588)CCA>CTA p.P196L FAM135A_uc003pfi.2_Missense_Mutation_p.P196L|FAM135A_uc003pfh.2_Missense_Mutation_p.P153L|FAM135A_uc003pfk.2_Missense_Mutation_p.P196L|FAM135A_uc003pfl.2_Missense_Mutation_p.P33L|FAM135A_uc003pfm.1_5'Flank NM_001162529 NP_001156001 Q9P2D6 F135A_HUMAN hypothetical protein LOC57579 isoform c 196 central_nervous_system(1) 1 AGAAATGCACCAGCACAAAAC 0.358 NA 14 37 0 0 0 0 HACE1 57531 broad.mit.edu 37 6 105224986 105224986 + Splice_Site SNP C C G TCGA-CV-7406-01A-11D-2078-08 TCGA-CV-7406-10A-01D-2078-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 8c9effa8-acb6-4db0-874a-8f0df386924c b00b903e-f57c-4c6c-b6b8-ae40489e6167 g.chr6:105224986C>G uc003pqu.1 - 16 1956 c.1679_splice c.e16-1 p.D560_splice HACE1_uc010kcy.1_Splice_Site_p.D42_splice|HACE1_uc010kcz.1_Intron|HACE1_uc010kcx.1_Intron|HACE1_uc003pqt.1_Splice_Site_p.D213_splice NM_020771 NP_065822 Q8IYU2 HACE1_HUMAN HECT domain and ankyrin repeat containing, E3 protein ubiquitination involved in ubiquitin-dependent protein catabolic process endoplasmic reticulum ubiquitin-protein ligase activity ovary(5)|lung(2) 7 all_cancers(87;6.89e-05)|Acute lymphoblastic leukemia(125;1.9e-08)|all_hematologic(75;9.25e-07)|all_epithelial(87;0.0216)|Colorectal(196;0.202) BRCA - Breast invasive adenocarcinoma(108;0.122)|Epithelial(106;0.204) AAAATAGAATCTAAATATGTA 0.328 NA 10 15 0 0 0 0 LAMA4 3910 broad.mit.edu 37 6 112438963 112438963 + Missense_Mutation SNP C C G TCGA-CV-7406-01A-11D-2078-08 TCGA-CV-7406-10A-01D-2078-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 8c9effa8-acb6-4db0-874a-8f0df386924c b00b903e-f57c-4c6c-b6b8-ae40489e6167 g.chr6:112438963C>G uc003pvu.2 - 35 5269 c.4960G>C c.(4960-4962)GAA>CAA p.E1654Q LAMA4_uc003pvv.2_Missense_Mutation_p.E1647Q|LAMA4_uc003pvt.2_Missense_Mutation_p.E1647Q NM_001105206 NP_001098676 Q16363 LAMA4_HUMAN laminin, alpha 4 isoform 1 precursor 1654 Laminin G-like 5. cell adhesion|regulation of cell adhesion|regulation of cell migration|regulation of embryonic development laminin-1 complex extracellular matrix structural constituent|receptor binding ovary(4)|breast(2)|large_intestine(1)|central_nervous_system(1)|pancreas(1) 9 all_cancers(87;0.000196)|all_hematologic(75;0.000114)|all_epithelial(87;0.00542)|Colorectal(196;0.0209) all cancers(137;0.0335)|OV - Ovarian serous cystadenocarcinoma(136;0.0578)|Epithelial(106;0.0748)|BRCA - Breast invasive adenocarcinoma(108;0.242) TATCCTCCTTCTGTTGAAAAG 0.458 NA 33 94 0 0 0 0 SYTL3 94120 broad.mit.edu 37 6 159129394 159129394 + Missense_Mutation SNP G G A TCGA-CV-7406-01A-11D-2078-08 TCGA-CV-7406-10A-01D-2078-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 8c9effa8-acb6-4db0-874a-8f0df386924c b00b903e-f57c-4c6c-b6b8-ae40489e6167 g.chr6:159129394G>A uc003qrp.2 + 7 731 c.487G>A c.(487-489)GAG>AAG p.E163K SYTL3_uc011efp.1_Missense_Mutation_p.E163K|SYTL3_uc003qro.2_Missense_Mutation_p.E163K|SYTL3_uc003qrq.2_Missense_Mutation_p.E163K|SYTL3_uc003qrr.2_Missense_Mutation_p.E163K|SYTL3_uc003qrs.2_Missense_Mutation_p.E163K|SYTL3_uc011efq.1_Intron NM_001009991 NP_001009991 Q4VX76 SYTL3_HUMAN synaptotagmin-like 3 163 intracellular protein transport endomembrane system|membrane Rab GTPase binding 0 Breast(66;0.000776)|Ovarian(120;0.0303) OV - Ovarian serous cystadenocarcinoma(65;1.54e-17)|BRCA - Breast invasive adenocarcinoma(81;8.24e-06) TCCTGTCAGCGAGAGCCAGTG 0.517 NA 18 45 0 0 0 0 HECW1 23072 broad.mit.edu 37 7 43483921 43483921 + Missense_Mutation SNP G G A TCGA-CV-7406-01A-11D-2078-08 TCGA-CV-7406-10A-01D-2078-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 8c9effa8-acb6-4db0-874a-8f0df386924c b00b903e-f57c-4c6c-b6b8-ae40489e6167 g.chr7:43483921G>A uc003tid.1 + 11 1755 c.1150G>A c.(1150-1152)GCA>ACA p.A384T HECW1_uc011kbi.1_Missense_Mutation_p.A384T NM_015052 NP_055867 Q76N89 HECW1_HUMAN NEDD4-like ubiquitin-protein ligase 1 384 protein ubiquitination involved in ubiquitin-dependent protein catabolic process cytoplasm|nucleus ubiquitin-protein ligase activity ovary(8)|lung(6)|breast(4)|skin(4)|pancreas(1) 23 TCGGTCTGAGGCACCAGAGTC 0.577 NA 17 29 0 0 0 0 ADCY1 107 broad.mit.edu 37 7 45753517 45753517 + Missense_Mutation SNP G G A TCGA-CV-7406-01A-11D-2078-08 TCGA-CV-7406-10A-01D-2078-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 8c9effa8-acb6-4db0-874a-8f0df386924c b00b903e-f57c-4c6c-b6b8-ae40489e6167 g.chr7:45753517G>A uc003tne.3 + 20 3301 c.3283G>A c.(3283-3285)GTC>ATC p.V1095I NM_021116 NP_066939 Q08828 ADCY1_HUMAN adenylate cyclase 1 1095 Cytoplasmic (Potential). activation of adenylate cyclase activity by G-protein signaling pathway|activation of phospholipase C activity|activation of protein kinase A activity|cellular response to glucagon stimulus|energy reserve metabolic process|inhibition of adenylate cyclase activity by G-protein signaling pathway|nerve growth factor receptor signaling pathway|synaptic transmission|transmembrane transport|water transport integral to membrane|plasma membrane ATP binding|calcium- and calmodulin-responsive adenylate cyclase activity|calmodulin binding|metal ion binding ovary(3)|upper_aerodigestive_tract(1)|central_nervous_system(1)|skin(1) 6 Adenosine(DB00640)|Adenosine monophosphate(DB00131)|Adenosine triphosphate(DB00171) CATGCCTGGCGTCTCAGTCAG 0.652 NA 19 57 0 0 0 0 COBL 23242 broad.mit.edu 37 7 51096125 51096125 + Missense_Mutation SNP C C T TCGA-CV-7406-01A-11D-2078-08 TCGA-CV-7406-10A-01D-2078-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 8c9effa8-acb6-4db0-874a-8f0df386924c b00b903e-f57c-4c6c-b6b8-ae40489e6167 g.chr7:51096125C>T uc003tpr.3 - 10 2853 c.2668G>A c.(2668-2670)GGT>AGT p.G890S COBL_uc003tps.2_Missense_Mutation_p.G947S|COBL_uc011kcl.1_Missense_Mutation_p.G890S|COBL_uc003tpp.3_Missense_Mutation_p.G676S|COBL_uc003tpq.3_Missense_Mutation_p.G831S|COBL_uc003tpo.3_Missense_Mutation_p.G432S NM_015198 NP_056013 O75128 COBL_HUMAN cordon-bleu homolog 890 skin(3)|ovary(2) 5 Glioma(55;0.08) TCGGCATAACCGTGTGGCCTC 0.562 NA 17 54 0 0 0 0 ZNF716 441234 broad.mit.edu 37 7 57529035 57529035 + Missense_Mutation SNP C C T TCGA-CV-7406-01A-11D-2078-08 TCGA-CV-7406-10A-01D-2078-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 8c9effa8-acb6-4db0-874a-8f0df386924c b00b903e-f57c-4c6c-b6b8-ae40489e6167 g.chr7:57529035C>T uc011kdi.1 + 4 980 c.868C>T c.(868-870)CAT>TAT p.H290Y NM_001159279 NP_001152751 zinc finger protein 716 ovary(2) 2 CAAGAGAATTCATACTGGAGA 0.408 NA 9 17 0 0 0 0 HGF 3082 broad.mit.edu 37 7 81374353 81374353 + Missense_Mutation SNP G G A TCGA-CV-7406-01A-11D-2078-08 TCGA-CV-7406-10A-01D-2078-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 8c9effa8-acb6-4db0-874a-8f0df386924c b00b903e-f57c-4c6c-b6b8-ae40489e6167 g.chr7:81374353G>A uc003uhl.2 - 6 874 c.709C>T c.(709-711)CAT>TAT p.H237Y HGF_uc003uhm.2_Missense_Mutation_p.H232Y|HGF_uc003uhn.1_Missense_Mutation_p.H237Y|HGF_uc003uho.1_Missense_Mutation_p.H232Y NM_000601 NP_000592 P14210 HGF_HUMAN hepatocyte growth factor isoform 1 237 Kringle 2. epithelial to mesenchymal transition|mitosis|platelet activation|platelet degranulation|proteolysis|regulation of branching involved in salivary gland morphogenesis by mesenchymal-epithelial signaling platelet alpha granule lumen growth factor activity|serine-type endopeptidase activity ovary(2)|central_nervous_system(2) 4 GGTGTCTGATGATCCCAGCGC 0.378 NA 16 39 0 0 0 0 PEX1 5189 broad.mit.edu 37 7 92131331 92131331 + Missense_Mutation SNP C C G TCGA-CV-7406-01A-11D-2078-08 TCGA-CV-7406-10A-01D-2078-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 8c9effa8-acb6-4db0-874a-8f0df386924c b00b903e-f57c-4c6c-b6b8-ae40489e6167 g.chr7:92131331C>G uc003uly.2 - 14 2385 c.2289G>C c.(2287-2289)AAG>AAC p.K763N PEX1_uc011khr.1_Missense_Mutation_p.K555N|PEX1_uc010ley.2_Missense_Mutation_p.K706N|PEX1_uc011khs.1_Missense_Mutation_p.K441N|PEX1_uc011kht.1_Intron NM_000466 NP_000457 O43933 PEX1_HUMAN peroxin1 763 microtubule-based peroxisome localization|protein import into peroxisome matrix cytosol|nucleus|peroxisomal membrane ATP binding|ATPase activity, coupled|protein C-terminus binding|protein complex binding ovary(1)|central_nervous_system(1) 2 all_cancers(62;9.35e-11)|all_epithelial(64;4.59e-10)|Breast(17;0.00201)|all_lung(186;0.0438)|Lung NSC(181;0.0592) Breast(660;0.000932)|all_neural(109;0.00391)|Myeloproliferative disorder(862;0.0122)|Ovarian(593;0.023)|Medulloblastoma(109;0.123) GBM - Glioblastoma multiforme(5;4.06e-06)|STAD - Stomach adenocarcinoma(4;4.51e-05)|all cancers(6;5.32e-05)|LUSC - Lung squamous cell carcinoma(200;0.225)|Lung(22;0.23) GATCGGTGAACTTGTTTATAT 0.353 NA 58 170 0 0 0 0 AP4M1 9179 broad.mit.edu 37 7 99704400 99704400 + Silent SNP C C G TCGA-CV-7406-01A-11D-2078-08 TCGA-CV-7406-10A-01D-2078-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 8c9effa8-acb6-4db0-874a-8f0df386924c b00b903e-f57c-4c6c-b6b8-ae40489e6167 g.chr7:99704400C>G uc003utb.3 + 15 1465 c.1257C>G c.(1255-1257)CTC>CTG p.L419L AP4M1_uc010lgl.1_Silent_p.L394L|AP4M1_uc003utc.3_Silent_p.L426L|AP4M1_uc010lgm.2_Silent_p.L291L|AP4M1_uc003utd.2_Silent_p.L419L|AP4M1_uc011kjh.1_Silent_p.L371L|AP4M1_uc003ute.3_Silent_p.L194L|AP4M1_uc003utf.3_Silent_p.L291L NM_004722 NP_004713 O00189 AP4M1_HUMAN adaptor-related protein complex 4, mu 1 subunit 419 MHD. intracellular protein transport|vesicle-mediated transport clathrin adaptor complex|coated pit|Golgi trans cisterna transporter activity 0 Lung NSC(181;0.0181)|all_lung(186;0.0284)|Esophageal squamous(72;0.0439) GCTCTGGCCTCCAGGTCCGAT 0.652 NA 9 55 0 0 0 0 RELN 5649 broad.mit.edu 37 7 103294652 103294652 + Missense_Mutation SNP C C G TCGA-CV-7406-01A-11D-2078-08 TCGA-CV-7406-10A-01D-2078-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 8c9effa8-acb6-4db0-874a-8f0df386924c b00b903e-f57c-4c6c-b6b8-ae40489e6167 g.chr7:103294652C>G uc003vca.2 - 13 1602 c.1442G>C c.(1441-1443)GGA>GCA p.G481A RELN_uc010liz.2_Missense_Mutation_p.G481A NM_005045 NP_005036 P78509 RELN_HUMAN reelin isoform a 481 axon guidance|cell adhesion|cerebral cortex tangential migration|glial cell differentiation|neuron migration|peptidyl-tyrosine phosphorylation|positive regulation of protein kinase activity|positive regulation of small GTPase mediated signal transduction|response to pain|spinal cord patterning cytoplasm|dendrite|extracellular space|proteinaceous extracellular matrix metal ion binding|protein serine/threonine/tyrosine kinase activity|serine-type peptidase activity ovary(8)|upper_aerodigestive_tract(5)|large_intestine(2)|central_nervous_system(2)|skin(1)|pancreas(1) 19 COAD - Colon adenocarcinoma(1;8.98e-05)|Colorectal(1;0.00184) ACAAATTCCTCCTGCACAAAA 0.318 NA 11 34 0 0 0 0 TMEM168 64418 broad.mit.edu 37 7 112412901 112412901 + Missense_Mutation SNP C C G TCGA-CV-7406-01A-11D-2078-08 TCGA-CV-7406-10A-01D-2078-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 8c9effa8-acb6-4db0-874a-8f0df386924c b00b903e-f57c-4c6c-b6b8-ae40489e6167 g.chr7:112412901C>G uc003vgn.2 - 4 1873 c.1481G>C c.(1480-1482)AGA>ACA p.R494T TMEM168_uc010lju.2_Missense_Mutation_p.R494T|TMEM168_uc011kmr.1_Missense_Mutation_p.R110T NM_022484 NP_071929 Q9H0V1 TM168_HUMAN transmembrane protein 168 494 integral to membrane|transport vesicle ovary(1)|central_nervous_system(1) 2 CGTATCATGTCTGGGTCCATC 0.443 NA 21 51 0 0 0 0 FEZF1 389549 broad.mit.edu 37 7 121944204 121944205 + Missense_Mutation DNP CC CC TT TCGA-CV-7406-01A-11D-2078-08 TCGA-CV-7406-10A-01D-2078-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 8c9effa8-acb6-4db0-874a-8f0df386924c b00b903e-f57c-4c6c-b6b8-ae40489e6167 g.chr7:121944204_121944205CC>TT uc003vkd.2 - 1 361_362 c.287_288GG>AA c.(286-288)CGG>CAA p.R96Q FEZF1_uc003vkc.2_Missense_Mutation_p.R96Q|uc010lko.1_RNA|uc003vkf.1_5'Flank NM_001024613 NP_001019784 A0PJY2 FEZF1_HUMAN FEZ family zinc finger 1 isoform 1 96 cell differentiation|nervous system development|regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding ovary(2)|breast(1) 3 GACTGGCCTTCCGCGGCTCGGA 0.569 NA 6 13 0 0 0 0 FLNC 2318 broad.mit.edu 37 7 128483349 128483349 + Missense_Mutation SNP G G A TCGA-CV-7406-01A-11D-2078-08 TCGA-CV-7406-10A-01D-2078-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 8c9effa8-acb6-4db0-874a-8f0df386924c b00b903e-f57c-4c6c-b6b8-ae40489e6167 g.chr7:128483349G>A uc003vnz.3 + 17 2826 c.2617G>A c.(2617-2619)GAG>AAG p.E873K FLNC_uc003voa.3_Missense_Mutation_p.E873K NM_001458 NP_001449 Q14315 FLNC_HUMAN gamma filamin isoform a 873 Filamin 7. cell junction assembly cytoskeleton|cytosol|plasma membrane|sarcomere actin binding breast(5)|large_intestine(3)|ovary(2)|central_nervous_system(1)|skin(1) 12 AGTCAAGGCCGAGGGCCCTGG 0.642 NA 4 9 0 0 0 0 KLF14 136259 broad.mit.edu 37 7 130417929 130417929 + Missense_Mutation SNP G G A TCGA-CV-7406-01A-11D-2078-08 TCGA-CV-7406-10A-01D-2078-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 8c9effa8-acb6-4db0-874a-8f0df386924c b00b903e-f57c-4c6c-b6b8-ae40489e6167 g.chr7:130417929G>A uc003vqk.1 - 1 932 c.932C>T c.(931-933)TCC>TTC p.S311F NM_138693 NP_619638 Q8TD94 KLF14_HUMAN Kruppel-like factor 14 311 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding 0 Melanoma(18;0.0435) GCCGGGACCGGAGCCGGAGGC 0.627 NA 3 14 0 0 0 0 EPHA1 2041 broad.mit.edu 37 7 143090949 143090949 + Missense_Mutation SNP C C G TCGA-CV-7406-01A-11D-2078-08 TCGA-CV-7406-10A-01D-2078-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 8c9effa8-acb6-4db0-874a-8f0df386924c b00b903e-f57c-4c6c-b6b8-ae40489e6167 g.chr7:143090949C>G uc003wcz.2 - 16 2598 c.2511G>C c.(2509-2511)AAG>AAC p.K837N NM_005232 NP_005223 P21709 EPHA1_HUMAN ephrin receptor EphA1 precursor 837 Protein kinase.|Cytoplasmic (Potential). integral to plasma membrane ATP binding|ephrin receptor activity ovary(3)|lung(1)|breast(1) 5 Melanoma(164;0.205) Myeloproliferative disorder(862;0.0255) CCTCAATGCTCTTCATAACCT 0.577 NA 23 43 0 0 0 0 SNTG1 54212 broad.mit.edu 37 8 51621528 51621528 + Missense_Mutation SNP C C T TCGA-CV-7406-01A-11D-2078-08 TCGA-CV-7406-10A-01D-2078-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 8c9effa8-acb6-4db0-874a-8f0df386924c b00b903e-f57c-4c6c-b6b8-ae40489e6167 g.chr8:51621528C>T uc010lxy.1 + 18 1645 c.1274C>T c.(1273-1275)GCT>GTT p.A425V SNTG1_uc003xqs.1_Missense_Mutation_p.A425V|SNTG1_uc010lxz.1_Missense_Mutation_p.A425V|SNTG1_uc011ldl.1_RNA NM_018967 NP_061840 Q9NSN8 SNTG1_HUMAN syntrophin, gamma 1 425 cell communication cytoplasm|cytoskeleton|nucleus|ruffle membrane|syntrophin complex actin binding|protein C-terminus binding ovary(5) 5 all_cancers(86;0.00754)|all_epithelial(80;9.76e-05)|Lung NSC(129;0.000865)|all_lung(136;0.00249)|Colorectal(162;0.22) TGCTTTGATGCTGCAACAAAG 0.378 NA 18 42 0 0 0 0 TRIM55 84675 broad.mit.edu 37 8 67066571 67066571 + Splice_Site SNP T T G TCGA-CV-7406-01A-11D-2078-08 TCGA-CV-7406-10A-01D-2078-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 8c9effa8-acb6-4db0-874a-8f0df386924c b00b903e-f57c-4c6c-b6b8-ae40489e6167 g.chr8:67066571T>G uc003xvv.2 + 9 1750 c.1524_splice c.e9+2 p.Q508_splice TRIM55_uc003xvu.2_Splice_Site_p.Q508_splice|TRIM55_uc003xvw.2_Intron|TRIM55_uc003xvx.2_Intron NM_184085 NP_908973 Q9BYV6 TRI55_HUMAN tripartite motif-containing 55 isoform 1 cytoplasm|microtubule|nucleus signal transducer activity|zinc ion binding skin(3)|ovary(1)|central_nervous_system(1) 5 Lung NSC(129;0.138)|all_lung(136;0.221) Epithelial(68;0.0136)|all cancers(69;0.0582)|BRCA - Breast invasive adenocarcinoma(89;0.0628)|OV - Ovarian serous cystadenocarcinoma(28;0.0904) ACTTCTCAGGTTAGTGATGAT 0.542 NA 10 27 0 0 0 0 NCOA2 10499 broad.mit.edu 37 8 71039096 71039096 + Missense_Mutation SNP G G A TCGA-CV-7406-01A-11D-2078-08 TCGA-CV-7406-10A-01D-2078-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 8c9effa8-acb6-4db0-874a-8f0df386924c b00b903e-f57c-4c6c-b6b8-ae40489e6167 g.chr8:71039096G>A uc003xyn.1 - 19 4030 c.3868C>T c.(3868-3870)CGG>TGG p.R1290W NCOA2_uc011lfb.1_Missense_Mutation_p.R378W NM_006540 NP_006531 Q15596 NCOA2_HUMAN nuclear receptor coactivator 2 1290 cellular lipid metabolic process|transcription, DNA-dependent nucleoplasm histone acetyltransferase activity|ligand-dependent nuclear receptor binding|nuclear hormone receptor binding|signal transducer activity PAX3/NCOA2(4) lung(6)|soft_tissue(4)|breast(2)|skin(2)|ovary(1)|pancreas(1) 16 Breast(64;0.201) Epithelial(68;0.0147)|OV - Ovarian serous cystadenocarcinoma(28;0.0455)|all cancers(69;0.0606) TGGGGAATCCGAGGGTTGCTC 0.502 NA T RUNXBP2 AML 4 23 0 0 0 0 CNBD1 168975 broad.mit.edu 37 8 88363940 88363940 + Missense_Mutation SNP C C G TCGA-CV-7406-01A-11D-2078-08 TCGA-CV-7406-10A-01D-2078-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 8c9effa8-acb6-4db0-874a-8f0df386924c b00b903e-f57c-4c6c-b6b8-ae40489e6167 g.chr8:88363940C>G uc003ydy.2 + 9 1118 c.1070C>G c.(1069-1071)TCT>TGT p.S357C NM_173538 NP_775809 Q8NA66 CNBD1_HUMAN cyclic nucleotide binding domain containing 1 357 cNMP. ovary(3) 3 AATATAATTTCTTTTGTGGGT 0.274 NA 3 7 0 0 0 0 CSMD3 114788 broad.mit.edu 37 8 113569178 113569178 + Missense_Mutation SNP C C T TCGA-CV-7406-01A-11D-2078-08 TCGA-CV-7406-10A-01D-2078-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 8c9effa8-acb6-4db0-874a-8f0df386924c b00b903e-f57c-4c6c-b6b8-ae40489e6167 g.chr8:113569178C>T uc003ynu.2 - 25 4207 c.4048G>A c.(4048-4050)GAA>AAA p.E1350K CSMD3_uc003yns.2_Missense_Mutation_p.E622K|CSMD3_uc003ynt.2_Missense_Mutation_p.E1310K|CSMD3_uc011lhx.1_Missense_Mutation_p.E1246K NM_198123 NP_937756 Q7Z407 CSMD3_HUMAN CUB and Sushi multiple domains 3 isoform 1 1350 Extracellular (Potential). 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 TGTGAGAGTTCAAAACCTGGG 0.358 NA HNSCC(6;0.00088)|TCGA Ovarian(7;0.080) 6 22 0 0 0 0 COL14A1 7373 broad.mit.edu 37 8 121354670 121354670 + Missense_Mutation SNP G G A TCGA-CV-7406-01A-11D-2078-08 TCGA-CV-7406-10A-01D-2078-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 8c9effa8-acb6-4db0-874a-8f0df386924c b00b903e-f57c-4c6c-b6b8-ae40489e6167 g.chr8:121354670G>A uc003yox.2 + 44 5138 c.4873G>A c.(4873-4875)GAA>AAA p.E1625K COL14A1_uc003yoz.2_Missense_Mutation_p.E590K NM_021110 NP_066933 Q05707 COEA1_HUMAN collagen, type XIV, alpha 1 precursor 1625 cell-cell adhesion|collagen fibril organization collagen type XIV|extracellular space collagen binding|extracellular matrix structural constituent|protein binding, bridging ovary(4)|kidney(4)|skin(2)|pancreas(1)|central_nervous_system(1) 12 Lung NSC(37;6.52e-07)|Ovarian(258;0.00769)|Hepatocellular(40;0.161) OV - Ovarian serous cystadenocarcinoma(1;6.47e-38)|STAD - Stomach adenocarcinoma(47;0.00503) TCAAGTATGCGAACAGCTCAT 0.478 NA 14 33 0 0 0 0 GSDMC 56169 broad.mit.edu 37 8 130774940 130774941 + Missense_Mutation DNP TT TT GC TCGA-CV-7406-01A-11D-2078-08 TCGA-CV-7406-10A-01D-2078-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 8c9effa8-acb6-4db0-874a-8f0df386924c b00b903e-f57c-4c6c-b6b8-ae40489e6167 g.chr8:130774940_130774941TT>GC uc003ysr.2 - 5 1489_1490 c.607_608AA>GC c.(607-609)AAG>GCG p.K203A NM_031415 NP_113603 Q9BYG8 GSDMC_HUMAN melanoma-derived leucine zipper, extra-nuclear 203 mitochondrion ovary(2)|skin(1) 3 AGTCAGCGCCTTCTTCTTCACT 0.416 NA 50 113 0 0 0 0 ARC 23237 broad.mit.edu 37 8 143695106 143695106 + Missense_Mutation SNP G G A TCGA-CV-7406-01A-11D-2078-08 TCGA-CV-7406-10A-01D-2078-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 8c9effa8-acb6-4db0-874a-8f0df386924c b00b903e-f57c-4c6c-b6b8-ae40489e6167 g.chr8:143695106G>A uc003ywn.1 - 1 728 c.527C>T c.(526-528)CCG>CTG p.P176L NM_015193 NP_056008 Q7LC44 ARC_HUMAN activity-regulated cytoskeleton-associated 176 endocytosis acrosomal vesicle|cell junction|dendritic spine|endosome|postsynaptic density|postsynaptic membrane breast(1) 1 all_cancers(97;3.55e-12)|all_epithelial(106;1.03e-08)|Lung NSC(106;0.000353)|all_lung(105;0.00092)|Medulloblastoma(13;0.00276)|all_neural(13;0.00559)|Ovarian(258;0.0254)|Acute lymphoblastic leukemia(118;0.155) Acute lymphoblastic leukemia(644;0.0279) GGCTGGGGGCGGGGTGATGGC 0.746 NA 5 4 0 0 0 0 SHARPIN 81858 broad.mit.edu 37 8 145154328 145154328 + Silent SNP G G A TCGA-CV-7406-01A-11D-2078-08 TCGA-CV-7406-10A-01D-2078-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 8c9effa8-acb6-4db0-874a-8f0df386924c b00b903e-f57c-4c6c-b6b8-ae40489e6167 g.chr8:145154328G>A uc003zba.2 - 6 1258 c.774C>T c.(772-774)TTC>TTT p.F258F SHARPIN_uc003zbb.2_RNA NM_030974 NP_112236 Q9H0F6 SHRPN_HUMAN shank-interacting protein-like 1 258 Ubiquitin-like.|Interaction with SHANK1 (By similarity). negative regulation of inflammatory response|positive regulation of I-kappaB kinase/NF-kappaB cascade|protein linear polyubiquitination|regulation of CD40 signaling pathway|regulation of tumor necrosis factor-mediated signaling pathway cytosol|LUBAC complex polyubiquitin binding|zinc ion binding ovary(1) 1 all_cancers(97;2.87e-11)|all_epithelial(106;2.16e-09)|Lung NSC(106;5.89e-05)|all_lung(105;0.000174)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155) OV - Ovarian serous cystadenocarcinoma(54;4.1e-42)|Epithelial(56;1.58e-40)|all cancers(56;6.12e-36)|Colorectal(110;0.055)|BRCA - Breast invasive adenocarcinoma(115;0.105) CGAGCTCTGAGAACACCTGTG 0.652 NA 9 27 0 0 0 0 KIFC2 90990 broad.mit.edu 37 8 145692461 145692461 + Missense_Mutation SNP G G A TCGA-CV-7406-01A-11D-2078-08 TCGA-CV-7406-10A-01D-2078-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 8c9effa8-acb6-4db0-874a-8f0df386924c b00b903e-f57c-4c6c-b6b8-ae40489e6167 g.chr8:145692461G>A uc003zcz.2 + 3 363 c.298G>A c.(298-300)GAG>AAG p.E100K CYHR1_uc003zcv.2_5'Flank|CYHR1_uc003zcw.2_5'Flank|CYHR1_uc003zcx.2_5'Flank|CYHR1_uc003zcy.2_5'Flank NM_145754 NP_665697 Q96AC6 KIFC2_HUMAN kinesin family member C2 100 microtubule-based movement cytoplasm|microtubule ATP binding|microtubule motor activity|protein binding ovary(2)|central_nervous_system(1) 3 all_cancers(97;4.61e-11)|all_epithelial(106;2.89e-10)|Lung NSC(106;5.7e-05)|all_lung(105;0.000174)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155) OV - Ovarian serous cystadenocarcinoma(54;1.08e-41)|Epithelial(56;8.67e-41)|all cancers(56;1.1e-35)|BRCA - Breast invasive adenocarcinoma(115;0.035)|Colorectal(110;0.055) GGGGGCGGAAGAGAGCTGCGG 0.746 NA OREG0019057 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 5 7 0 0 0 0 CCIN 881 broad.mit.edu 37 9 36169709 36169709 + Silent SNP C C T TCGA-CV-7406-01A-11D-2078-08 TCGA-CV-7406-10A-01D-2078-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 8c9effa8-acb6-4db0-874a-8f0df386924c b00b903e-f57c-4c6c-b6b8-ae40489e6167 g.chr9:36169709C>T uc003zzb.3 + 1 321 c.210C>T c.(208-210)ATC>ATT p.I70I NM_005893 NP_005884 Q13939 CALI_HUMAN calicin 70 BTB. cell differentiation|multicellular organismal development|spermatogenesis cytoskeletal calyx structural constituent of cytoskeleton ovary(1)|skin(1) 2 STAD - Stomach adenocarcinoma(86;0.228) AGCTTTTCATCACCATTGACA 0.532 NA 8 25 0 0 0 0 VPS13A 23230 broad.mit.edu 37 9 79936594 79936594 + Missense_Mutation SNP G G A rs145524733 TCGA-CV-7406-01A-11D-2078-08 TCGA-CV-7406-10A-01D-2078-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 8c9effa8-acb6-4db0-874a-8f0df386924c b00b903e-f57c-4c6c-b6b8-ae40489e6167 g.chr9:79936594G>A uc004akr.2 + 44 6022 c.5762G>A c.(5761-5763)CGA>CAA p.R1921Q VPS13A_uc004akp.3_Missense_Mutation_p.R1921Q|VPS13A_uc004akq.3_Missense_Mutation_p.R1921Q|VPS13A_uc004aks.2_Missense_Mutation_p.R1882Q|VPS13A_uc004akt.2_Missense_Mutation_p.R261Q NM_033305 NP_150648 Q96RL7 VP13A_HUMAN vacuolar protein sorting 13A isoform A 1921 Golgi to endosome transport|protein transport intracellular protein binding pancreas(3)|skin(3)|ovary(2)|large_intestine(1)|central_nervous_system(1) 10 GATTATATCCGAACCAAGGAC 0.353 NA 13 39 0 0 0 0 SLC28A3 64078 broad.mit.edu 37 9 86912933 86912933 + Missense_Mutation SNP A A C TCGA-CV-7406-01A-11D-2078-08 TCGA-CV-7406-10A-01D-2078-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 8c9effa8-acb6-4db0-874a-8f0df386924c b00b903e-f57c-4c6c-b6b8-ae40489e6167 g.chr9:86912933A>C uc010mpz.2 - 7 796 c.671T>G c.(670-672)GTT>GGT p.V224G SLC28A3_uc011lsy.1_Missense_Mutation_p.V155G|SLC28A3_uc004anu.1_Missense_Mutation_p.V224G|SLC28A3_uc010mqb.2_Missense_Mutation_p.V155G NM_022127 NP_071410 Q9HAS3 S28A3_HUMAN concentrative Na+-nucleoside cotransporter 224 Helical; (Potential). nucleobase, nucleoside and nucleotide metabolic process integral to membrane|plasma membrane nucleoside binding upper_aerodigestive_tract(1)|ovary(1)|pancreas(1)|skin(1) 4 TCTCCAGTAAACCTATACAGA 0.418 NA 8 64 0 0 0 0 LCN2 3934 broad.mit.edu 37 9 130914289 130914289 + Missense_Mutation SNP A A C TCGA-CV-7406-01A-11D-2078-08 TCGA-CV-7406-10A-01D-2078-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 8c9effa8-acb6-4db0-874a-8f0df386924c b00b903e-f57c-4c6c-b6b8-ae40489e6167 g.chr9:130914289A>C uc004bto.1 + 4 533 c.460A>C c.(460-462)AAG>CAG p.K154Q LCN2_uc011map.1_Missense_Mutation_p.K154Q NM_005564 NP_005555 P80188 NGAL_HUMAN lipocalin 2 precursor 154 Catecholate-type ferric siderophore. apoptosis|innate immune response|regulation of apoptosis|siderophore transport iron ion binding|transporter activity 0 GGAGTACTTCAAGATCACCCT 0.547 NA 24 79 0 0 0 0 SYAP1 94056 broad.mit.edu 37 X 16775366 16775366 + Missense_Mutation SNP G G A TCGA-CV-7406-01A-11D-2078-08 TCGA-CV-7406-10A-01D-2078-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 8c9effa8-acb6-4db0-874a-8f0df386924c b00b903e-f57c-4c6c-b6b8-ae40489e6167 g.chrX:16775366G>A uc004cxp.2 + 8 958 c.865G>A c.(865-867)GAT>AAT p.D289N SYAP1_uc004cxo.2_Missense_Mutation_p.D289N|SYAP1_uc011miv.1_Missense_Mutation_p.D255N NM_032796 NP_116185 Q96A49 SYAP1_HUMAN SYAP1 protein 289 skin(1) 1 Hepatocellular(33;0.0997) AAATCAGGAAGATCTAAGGAA 0.398 NA 39 29 0 0 0 0 TAB3 257397 broad.mit.edu 37 X 30873379 30873379 + Missense_Mutation SNP G G A TCGA-CV-7406-01A-11D-2078-08 TCGA-CV-7406-10A-01D-2078-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 8c9effa8-acb6-4db0-874a-8f0df386924c b00b903e-f57c-4c6c-b6b8-ae40489e6167 g.chrX:30873379G>A uc004dcj.2 - 6 1066 c.403C>T c.(403-405)CCC>TCC p.P135S TAB3_uc004dck.2_Missense_Mutation_p.P135S|TAB3_uc010ngl.2_Missense_Mutation_p.P135S NM_152787 NP_690000 Q8N5C8 TAB3_HUMAN mitogen-activated protein kinase kinase kinase 7 135 activation of MAPK activity|I-kappaB kinase/NF-kappaB cascade|innate immune response|JNK cascade|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|positive regulation of NF-kappaB transcription factor activity|stress-activated MAPK cascade|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway cytosol|endosome membrane|plasma membrane protein binding|zinc ion binding ovary(1) 1 TTGTAGTTGGGAGTAGCAGCA 0.443 NA 28 15 0 0 0 0 GATA1 2623 broad.mit.edu 37 X 48650432 48650432 + Silent SNP G G A TCGA-CV-7406-01A-11D-2078-08 TCGA-CV-7406-10A-01D-2078-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 8c9effa8-acb6-4db0-874a-8f0df386924c b00b903e-f57c-4c6c-b6b8-ae40489e6167 g.chrX:48650432G>A uc004dkq.3 + 3 493 c.402G>A c.(400-402)GAG>GAA p.E134E NM_002049 NP_002040 P15976 GATA1_HUMAN GATA binding protein 1 134 basophil differentiation|eosinophil differentiation|erythrocyte development|megakaryocyte differentiation|platelet aggregation|platelet formation|positive regulation of anti-apoptosis|positive regulation of peptidyl-tyrosine phosphorylation|regulation of glycoprotein biosynthetic process|transcription from RNA polymerase II promoter nuclear membrane|nucleolus|nucleoplasm C2H2 zinc finger domain binding|RNA polymerase II regulatory region sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding p.?(2)|p.V74_C199del(1) haematopoietic_and_lymphoid_tissue(246)|lung(2) 248 GCTTCCTGGAGACTTTGAAGA 0.612 NA Mis|F megakaryoblastic leukemia of Downs Syndrome 15 14 0 0 0 0 KCND1 3750 broad.mit.edu 37 X 48826593 48826593 + Missense_Mutation SNP G G A TCGA-CV-7406-01A-11D-2078-08 TCGA-CV-7406-10A-01D-2078-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 8c9effa8-acb6-4db0-874a-8f0df386924c b00b903e-f57c-4c6c-b6b8-ae40489e6167 g.chrX:48826593G>A uc004dlx.1 - 1 1659 c.86C>T c.(85-87)CCG>CTG p.P29L KCND1_uc004dlw.1_5'Flank NM_004979 NP_004970 Q9NSA2 KCND1_HUMAN potassium voltage-gated channel, Shal-related 29 Cytoplasmic (Potential). voltage-gated potassium channel complex metal ion binding|voltage-gated potassium channel activity ovary(2)|lung(1) 3 CCCCGGTGCCGGGGGCAGGGG 0.662 NA 3 8 0 0 0 0 HUWE1 10075 broad.mit.edu 37 X 53560990 53560990 + Missense_Mutation SNP G G A TCGA-CV-7406-01A-11D-2078-08 TCGA-CV-7406-10A-01D-2078-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 8c9effa8-acb6-4db0-874a-8f0df386924c b00b903e-f57c-4c6c-b6b8-ae40489e6167 g.chrX:53560990G>A uc004dsp.2 - 83 13402 c.13000C>T c.(13000-13002)CGC>TGC p.R4334C HUWE1_uc004dsn.2_Missense_Mutation_p.R3142C NM_031407 NP_113584 Q7Z6Z7 HUWE1_HUMAN HECT, UBA and WWE domain containing 1 4334 HECT. base-excision repair|cell differentiation|histone ubiquitination|protein monoubiquitination|protein polyubiquitination|protein ubiquitination involved in ubiquitin-dependent protein catabolic process cytoplasm|nucleus DNA binding|protein binding|ubiquitin-protein ligase activity ovary(8)|large_intestine(4)|breast(4)|kidney(1) 17 GAAGGCAGGCGATCTGTGGAC 0.493 NA 23 19 0 0 0 0 ITM2A 9452 broad.mit.edu 37 X 78616833 78616833 + Silent SNP G G A TCGA-CV-7406-01A-11D-2078-08 TCGA-CV-7406-10A-01D-2078-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 8c9effa8-acb6-4db0-874a-8f0df386924c b00b903e-f57c-4c6c-b6b8-ae40489e6167 g.chrX:78616833G>A uc004edh.2 - 5 1031 c.696C>T c.(694-696)CTC>CTT p.L232L ITM2A_uc011mqr.1_Silent_p.L188L NM_004867 NP_004858 O43736 ITM2A_HUMAN integral membrane protein 2A 232 integral to membrane protein binding lung(2) 2 TACCCAGCAAGAGGTCTCTGC 0.433 NA 31 25 0 0 0 0 TRMT2B 79979 broad.mit.edu 37 X 100290613 100290613 + Missense_Mutation SNP G G C TCGA-CV-7406-01A-11D-2078-08 TCGA-CV-7406-10A-01D-2078-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 8c9effa8-acb6-4db0-874a-8f0df386924c b00b903e-f57c-4c6c-b6b8-ae40489e6167 g.chrX:100290613G>C uc004egq.2 - 6 897 c.598C>G c.(598-600)CAA>GAA p.Q200E TRMT2B_uc004egp.2_RNA|TRMT2B_uc004egr.2_Missense_Mutation_p.Q200E|TRMT2B_uc004egs.2_Missense_Mutation_p.Q200E|TRMT2B_uc004egt.2_Missense_Mutation_p.Q200E|TRMT2B_uc004egu.2_Missense_Mutation_p.Q81E|TRMT2B_uc004egv.2_Missense_Mutation_p.Q155E NM_024917 NP_079193 Q96GJ1 TRM2_HUMAN TRM2 tRNA methyltransferase 2 homolog B 200 tRNA (uracil-5-)-methyltransferase activity ovary(1) 1 TGCGCCACTTGACTGTGTTTC 0.393 NA 24 31 0 0 0 0 GPRASP2 114928 broad.mit.edu 37 X 101971015 101971015 + Missense_Mutation SNP C C G TCGA-CV-7406-01A-11D-2078-08 TCGA-CV-7406-10A-01D-2078-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 8c9effa8-acb6-4db0-874a-8f0df386924c b00b903e-f57c-4c6c-b6b8-ae40489e6167 g.chrX:101971015C>G uc004ejk.2 + 4 2552 c.1218C>G c.(1216-1218)ATC>ATG p.I406M GPRASP2_uc004ejl.2_Missense_Mutation_p.I406M|GPRASP2_uc004ejm.2_Missense_Mutation_p.I406M|GPRASP2_uc011mrp.1_5'Flank NM_138437 NP_612446 Q96D09 GASP2_HUMAN G protein-coupled receptor associated sorting 406 cytoplasm protein binding ovary(1) 1 CTTCAGCAATCTGTGAATCTG 0.547 NA 3 37 0 0 0 0 ELF4 2000 broad.mit.edu 37 X 129205093 129205093 + Missense_Mutation SNP G G C TCGA-CV-7406-01A-11D-2078-08 TCGA-CV-7406-10A-01D-2078-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 8c9effa8-acb6-4db0-874a-8f0df386924c b00b903e-f57c-4c6c-b6b8-ae40489e6167 g.chrX:129205093G>C uc004evd.3 - 7 1116 c.731C>G c.(730-732)TCC>TGC p.S244C ELF4_uc004eve.3_Missense_Mutation_p.S244C NM_001421 NP_001412 Q99607 ELF4_HUMAN E74-like factor 4 244 ETS. natural killer cell proliferation|NK T cell proliferation|positive regulation of transcription from RNA polymerase II promoter PML body protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity ovary(1) 1 CACAGCTTTGGAGTCCACCAG 0.522 NA T ERG AML 63 40 0 0 0 0 ARHGAP36 158763 broad.mit.edu 37 X 130220635 130220635 + Missense_Mutation SNP T T A TCGA-CV-7406-01A-11D-2078-08 TCGA-CV-7406-10A-01D-2078-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 8c9effa8-acb6-4db0-874a-8f0df386924c b00b903e-f57c-4c6c-b6b8-ae40489e6167 g.chrX:130220635T>A uc004evz.2 + 11 1827 c.1482T>A c.(1480-1482)GAT>GAA p.D494E ARHGAP36_uc004ewa.2_Missense_Mutation_p.D482E|ARHGAP36_uc004ewb.2_Missense_Mutation_p.D463E|ARHGAP36_uc004ewc.2_Missense_Mutation_p.D358E NM_144967 NP_659404 Q6ZRI8 RHG36_HUMAN hypothetical protein LOC158763 precursor 494 regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction cytosol GTPase activator activity ovary(3) 3 AGCCTTCTGATGAAGGTCAGT 0.537 NA 7 32 0 0 0 0 GPC4 2239 broad.mit.edu 37 X 132440099 132440099 + Missense_Mutation SNP C C T TCGA-CV-7406-01A-11D-2078-08 TCGA-CV-7406-10A-01D-2078-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 8c9effa8-acb6-4db0-874a-8f0df386924c b00b903e-f57c-4c6c-b6b8-ae40489e6167 g.chrX:132440099C>T uc004exc.1 - 5 1173 c.961G>A c.(961-963)GAT>AAT p.D321N GPC4_uc011mvg.1_Missense_Mutation_p.D251N NM_001448 NP_001439 O75487 GPC4_HUMAN glypican 4 precursor 321 anatomical structure morphogenesis|cell proliferation anchored to membrane|external side of plasma membrane|extracellular space|insoluble fraction|integral to plasma membrane|proteinaceous extracellular matrix heparan sulfate proteoglycan binding 0 Acute lymphoblastic leukemia(192;0.000127) ATAATAGCATCAGAAATCTTC 0.488 NA 41 35 0 0 0 0 GPC3 2719 broad.mit.edu 37 X 132795857 132795857 + Silent SNP C C T TCGA-CV-7406-01A-11D-2078-08 TCGA-CV-7406-10A-01D-2078-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 8c9effa8-acb6-4db0-874a-8f0df386924c b00b903e-f57c-4c6c-b6b8-ae40489e6167 g.chrX:132795857C>T uc004exe.1 - 6 1504 c.1314G>A c.(1312-1314)AGG>AGA p.R438R GPC3_uc004exd.1_Silent_p.R310R|GPC3_uc010nrn.1_Silent_p.R461R|GPC3_uc011mvh.1_Silent_p.R422R|GPC3_uc010nro.1_Silent_p.R384R NM_004484 NP_004475 P51654 GPC3_HUMAN glypican 3 isoform 2 precursor 438 extracellular space|integral to plasma membrane|proteinaceous extracellular matrix heparan sulfate proteoglycan binding|peptidyl-dipeptidase inhibitor activity lung(2)|prostate(1)|breast(1)|skin(1) 5 Acute lymphoblastic leukemia(192;0.000127) TCATTCCATTCCTTGCTGCCT 0.413 NA T|D|Mis|N|F|S Wilms tumour Simpson-Golabi-Behmel_syndrome 15 23 0 0 0 0 MAGEC2 51438 broad.mit.edu 37 X 141291674 141291674 + Missense_Mutation SNP C C T TCGA-CV-7406-01A-11D-2078-08 TCGA-CV-7406-10A-01D-2078-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 8c9effa8-acb6-4db0-874a-8f0df386924c b00b903e-f57c-4c6c-b6b8-ae40489e6167 g.chrX:141291674C>T uc004fbu.1 - 3 448 c.100G>A c.(100-102)GAG>AAG p.E34K NM_016249 NP_057333 Q9UBF1 MAGC2_HUMAN melanoma antigen family C, 2 34 Poly-Glu. cytoplasm|nucleus breast(2) 2 Acute lymphoblastic leukemia(192;6.56e-05) TCCTCTTCCTCATCTGTGGGA 0.522 NA HNSCC(46;0.14) 45 41 0 0 0 0 HCFC1 3054 broad.mit.edu 37 X 153215717 153215717 + Missense_Mutation SNP G G A TCGA-CV-7406-01A-11D-2078-08 TCGA-CV-7406-10A-01D-2078-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 8c9effa8-acb6-4db0-874a-8f0df386924c b00b903e-f57c-4c6c-b6b8-ae40489e6167 g.chrX:153215717G>A uc004fjp.2 - 24 6509 c.5981C>T c.(5980-5982)GCC>GTC p.A1994V NM_005334 NP_005325 P51610 HCFC1_HUMAN host cell factor 1 1994 cell cycle|interspecies interaction between organisms|positive regulation of cell cycle|positive regulation of gene expression|protein stabilization|reactivation of latent virus|regulation of protein complex assembly|transcription from RNA polymerase II promoter mitochondrion|MLL1 complex|MLL5-L complex|Set1C/COMPASS complex chromatin binding|identical protein binding|sequence-specific DNA binding transcription factor activity|transcription coactivator activity ovary(2) 2 all_cancers(53;6.23e-16)|all_epithelial(53;5.61e-10)|all_lung(58;3.99e-07)|Lung NSC(58;5.02e-07)|all_hematologic(71;4.25e-06)|Acute lymphoblastic leukemia(192;6.56e-05) CACTTGTGTGGCCGGGCCATA 0.622 NA 26 11 0 0 0 0 CASZ1 54897 broad.mit.edu 37 1 10715845 10715857 + Frame_Shift_Del DEL ATCACGTCCTGCT ATCACGTCCTGCT - TCGA-CV-7406-01A-11D-2078-08 TCGA-CV-7406-10A-01D-2078-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 8c9effa8-acb6-4db0-874a-8f0df386924c b00b903e-f57c-4c6c-b6b8-ae40489e6167 g.chr1:10715845_10715857delATCACGTCCTGCT uc001aro.2 - 9 1834_1846 c.1514_1526delAGCAGGACGTGAT c.(1513-1527)AAGCAGGACGTGATCfs p.K505fs CASZ1_uc001arp.1_Frame_Shift_Del_p.K505fs|CASZ1_uc009vmx.2_Frame_Shift_Del_p.K529fs NM_001079843 NP_001073312 Q86V15 CASZ1_HUMAN castor homolog 1, zinc finger isoform a 505_509 regulation of transcription, DNA-dependent|transcription, DNA-dependent cytoplasm|nucleus DNA binding|zinc ion binding skin(1) 1 Ovarian(185;0.203)|all_lung(157;0.204) Lung NSC(185;4.96e-06)|all_lung(284;1.22e-05)|Renal(390;0.000147)|Breast(348;0.00093)|Colorectal(325;0.00212)|Hepatocellular(190;0.00913)|Ovarian(437;0.0229)|Myeloproliferative disorder(586;0.0255) STAD - Stomach adenocarcinoma(5;0.0224) UCEC - Uterine corpus endometrioid carcinoma (279;0.0265)|Colorectal(212;3.54e-08)|COAD - Colon adenocarcinoma(227;9.56e-06)|BRCA - Breast invasive adenocarcinoma(304;0.000219)|Kidney(185;0.00142)|KIRC - Kidney renal clear cell carcinoma(229;0.00381)|READ - Rectum adenocarcinoma(331;0.0419)|STAD - Stomach adenocarcinoma(132;0.0623) GTAGTGGCGGATCACGTCCTGCTTACTCGTGAA 0.629 NA 17 31 --- --- --- --- NA NA NA NA MACF1 23499 broad.mit.edu 37 1 39801943 39801943 + Frame_Shift_Del DEL A A - TCGA-CV-7406-01A-11D-2078-08 TCGA-CV-7406-10A-01D-2078-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 8c9effa8-acb6-4db0-874a-8f0df386924c b00b903e-f57c-4c6c-b6b8-ae40489e6167 g.chr1:39801943delA uc010oiu.1 + 1 5134 c.5003delA c.(5002-5004)GAAfs p.E1668fs MACF1_uc010ois.1_Intron|MACF1_uc001cda.1_Intron|MACF1_uc001cdc.1_Intron|MACF1_uc001cdb.1_Intron NM_033044 NP_149033 Q9UPN3 MACF1_HUMAN microfilament and actin filament cross-linker 3233 cell cycle arrest|Golgi to plasma membrane protein transport|positive regulation of Wnt receptor signaling pathway|regulation of epithelial cell migration|regulation of focal adhesion assembly|regulation of microtubule-based process|Wnt receptor signaling pathway|wound healing Golgi apparatus|microtubule|ruffle membrane actin filament binding|ATPase activity|calcium ion binding|microtubule binding ovary(8)|breast(3)|central_nervous_system(3)|skin(2) 16 Lung NSC(20;5.57e-06)|Ovarian(52;0.00769)|Acute lymphoblastic leukemia(166;0.074) Myeloproliferative disorder(586;0.0255) OV - Ovarian serous cystadenocarcinoma(33;7.78e-19)|Epithelial(16;1.73e-17)|all cancers(16;2.49e-16)|LUSC - Lung squamous cell carcinoma(16;0.00146)|Lung(16;0.00204) CTCAAATCTGAAATAGCAACA 0.398 NA 7 102 --- --- --- --- NA NA NA NA ANKRD30A 91074 broad.mit.edu 37 10 37482137 37482137 + Frame_Shift_Del DEL T T - TCGA-CV-7406-01A-11D-2078-08 TCGA-CV-7406-10A-01D-2078-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 8c9effa8-acb6-4db0-874a-8f0df386924c b00b903e-f57c-4c6c-b6b8-ae40489e6167 g.chr10:37482137delT uc001iza.1 + 27 2496 c.2397delT c.(2395-2397)TCTfs p.S799fs NM_052997 NP_443723 Q9BXX3 AN30A_HUMAN ankyrin repeat domain 30A 855 nucleus DNA binding|sequence-specific DNA binding transcription factor activity ovary(7)|breast(1)|skin(1) 9 TGAAAGTTTCTATTCCAACTA 0.264 NA 12 72 --- --- --- --- NA NA NA NA DNAH2 146754 broad.mit.edu 37 17 7734149 7734149 + Frame_Shift_Del DEL T T - TCGA-CV-7406-01A-11D-2078-08 TCGA-CV-7406-10A-01D-2078-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 8c9effa8-acb6-4db0-874a-8f0df386924c b00b903e-f57c-4c6c-b6b8-ae40489e6167 g.chr17:7734149delT uc002giu.1 + 78 12233 c.12219delT c.(12217-12219)ACTfs p.T4073fs DNAH2_uc010cnm.1_Frame_Shift_Del_p.T1011fs NM_020877 NP_065928 Q9P225 DYH2_HUMAN dynein heavy chain domain 3 4073 TPR 4. ciliary or flagellar motility|microtubule-based movement axonemal dynein complex|cilium axoneme|cytoplasm|microtubule ATP binding|ATPase activity|microtubule motor activity ovary(6)|skin(6)|central_nervous_system(1) 13 all_cancers(10;4.66e-07)|Prostate(122;0.081) CTCTATCAACTCCCTTCCACC 0.567 NA 13 21 --- --- --- --- NA NA NA NA SERPINB2 5055 broad.mit.edu 37 18 61562580 61562581 + Frame_Shift_Del DEL AG AG - rs149564761 byFrequency TCGA-CV-7406-01A-11D-2078-08 TCGA-CV-7406-10A-01D-2078-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 8c9effa8-acb6-4db0-874a-8f0df386924c b00b903e-f57c-4c6c-b6b8-ae40489e6167 g.chr18:61562580_61562581delAG uc010xeu.1 + 4 584_585 c.251_252delAG c.(250-252)CAGfs p.Q84fs SERPINB2_uc002ljo.2_Frame_Shift_Del_p.Q84fs|SERPINB2_uc010dqh.2_Frame_Shift_Del_p.Q14fs|SERPINB2_uc002ljp.1_5'Flank|SERPINB2_uc002ljq.1_5'Flank NM_001143818 NP_001137290 P05120 PAI2_HUMAN serine (or cysteine) proteinase inhibitor, clade 84 anti-apoptosis|blood coagulation|fibrinolysis|regulation of proteolysis extracellular space|Golgi apparatus|plasma membrane serine-type endopeptidase inhibitor activity lung(1)|skin(1) 2 Esophageal squamous(42;0.131) Alteplase(DB00009)|Anistreplase(DB00029)|Reteplase(DB00015)|Tenecteplase(DB00031)|Urokinase(DB00013) TTCATGCAGCAGATCCAGAAGG 0.416 NA 14 229 --- --- --- --- NA NA NA NA NCKAP5 344148 broad.mit.edu 37 2 133543004 133543004 + Frame_Shift_Del DEL G G - TCGA-CV-7406-01A-11D-2078-08 TCGA-CV-7406-10A-01D-2078-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 8c9effa8-acb6-4db0-874a-8f0df386924c b00b903e-f57c-4c6c-b6b8-ae40489e6167 g.chr2:133543004delG uc002ttp.2 - 14 1754 c.1380delC c.(1378-1380)CCCfs p.P460fs NCKAP5_uc002ttq.2_Intron NM_207363 NP_997246 O14513 NCKP5_HUMAN Nck-associated protein 5 isoform 1 460 protein binding 0 GTTCCTTGCAGGGGCTCCCCA 0.478 NA 14 49 --- --- --- --- NA NA NA NA GALNT5 11227 broad.mit.edu 37 2 158115183 158115183 + Frame_Shift_Del DEL C C - TCGA-CV-7406-01A-11D-2078-08 TCGA-CV-7406-10A-01D-2078-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 8c9effa8-acb6-4db0-874a-8f0df386924c b00b903e-f57c-4c6c-b6b8-ae40489e6167 g.chr2:158115183delC uc002tzg.2 + 1 844 c.589delC c.(589-591)CCCfs p.P197fs GALNT5_uc010zci.1_RNA NM_014568 NP_055383 Q7Z7M9 GALT5_HUMAN N-acetylgalactosaminyltransferase 5 197 Lumenal (Potential). glycosaminoglycan biosynthetic process Golgi membrane|integral to membrane polypeptide N-acetylgalactosaminyltransferase activity|sugar binding breast(3)|skin(1) 4 AAAACAGGAGCCCCGGAAGAG 0.473 NA 11 36 --- --- --- --- NA NA NA NA MARCH4 57574 broad.mit.edu 37 2 217234943 217234945 + In_Frame_Del DEL CAC CAC - rs145386484 TCGA-CV-7406-01A-11D-2078-08 TCGA-CV-7406-10A-01D-2078-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 8c9effa8-acb6-4db0-874a-8f0df386924c b00b903e-f57c-4c6c-b6b8-ae40489e6167 g.chr2:217234943_217234945delCAC uc002vgb.2 - 1 1806_1808 c.39_41delGTG c.(37-42)TGGTGC>TGC p.W13del NM_020814 NP_065865 Q9P2E8 MARH4_HUMAN membrane-associated ring finger (C3HC4) 4 13 Golgi membrane|Golgi stack|integral to membrane|trans-Golgi network ubiquitin-protein ligase activity|zinc ion binding ovary(1) 1 Renal(323;0.0854) Epithelial(149;2.19e-05)|all cancers(144;0.00121)|LUSC - Lung squamous cell carcinoma(224;0.00902)|Lung(261;0.0125) GGAGCAGCAGCACCACCACCACC 0.616 NA 2 4 --- --- --- --- NA NA NA NA CAMKV 79012 broad.mit.edu 37 3 49898901 49898907 + Frame_Shift_Del DEL AGTGCAA AGTGCAA - TCGA-CV-7406-01A-11D-2078-08 TCGA-CV-7406-10A-01D-2078-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 8c9effa8-acb6-4db0-874a-8f0df386924c b00b903e-f57c-4c6c-b6b8-ae40489e6167 g.chr3:49898901_49898907delAGTGCAA uc003cxt.1 - 5 599_605 c.406_412delTTGCACT c.(406-414)TTGCACTCAfs p.L136fs CAMKV_uc011bcy.1_Frame_Shift_Del_p.L61fs|CAMKV_uc003cxv.1_Frame_Shift_Del_p.L136fs|CAMKV_uc003cxw.1_5'UTR|CAMKV_uc003cxx.1_5'UTR|CAMKV_uc003cxu.2_Frame_Shift_Del_p.L136fs|CAMKV_uc011bcz.1_Frame_Shift_Del_p.L99fs|CAMKV_uc011bda.1_Intron|CAMKV_uc011bdb.1_RNA NM_024046 NP_076951 Q8NCB2 CAMKV_HUMAN CaM kinase-like vesicle-associated 136_138 Protein kinase. cytoplasmic vesicle membrane|plasma membrane ATP binding|protein serine/threonine kinase activity ovary(2)|lung(2)|large_intestine(2)|central_nervous_system(1) 7 BRCA - Breast invasive adenocarcinoma(193;4.62e-05)|KIRC - Kidney renal clear cell carcinoma(197;0.00551)|Kidney(197;0.00621) ATCTTGAGTGAGTGCAAATAGGCCACG 0.609 NA 7 47 --- --- --- --- NA NA NA NA TNIK 23043 broad.mit.edu 37 3 170784400 170784409 + Frame_Shift_Del DEL ACATCCTTAG ACATCCTTAG - TCGA-CV-7406-01A-11D-2078-08 TCGA-CV-7406-10A-01D-2078-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 8c9effa8-acb6-4db0-874a-8f0df386924c b00b903e-f57c-4c6c-b6b8-ae40489e6167 g.chr3:170784400_170784409delACATCCTTAG uc003fhh.2 - 31 4160_4169 c.3815_3824delCTAAGGATGT c.(3814-3825)ACTAAGGATGTGfs p.T1272fs TNIK_uc003fhi.2_Frame_Shift_Del_p.T1217fs|TNIK_uc003fhj.2_Frame_Shift_Del_p.T1243fs|TNIK_uc003fhk.2_Frame_Shift_Del_p.T1264fs|TNIK_uc003fhl.2_Frame_Shift_Del_p.T1188fs|TNIK_uc003fhm.2_Frame_Shift_Del_p.T1209fs|TNIK_uc003fhn.2_Frame_Shift_Del_p.T1235fs|TNIK_uc003fho.2_Frame_Shift_Del_p.T1180fs|TNIK_uc003fhg.2_Frame_Shift_Del_p.T450fs|TNIK_uc003fhp.2_Frame_Shift_Del_p.T204fs NM_015028 NP_055843 Q9UKE5 TNIK_HUMAN TRAF2 and NCK interacting kinase isoform 1 1272_1275 CNH. actin cytoskeleton reorganization|activation of JNKK activity|protein autophosphorylation|regulation of dendrite morphogenesis|Wnt receptor signaling pathway cytoskeleton|nucleus|recycling endosome ATP binding|protein binding|protein serine/threonine kinase activity|small GTPase regulator activity ovary(4)|large_intestine(1) 5 all_cancers(22;2.55e-19)|all_lung(20;2.22e-14)|Ovarian(172;0.00197)|Breast(254;0.122) LUSC - Lung squamous cell carcinoma(14;3.57e-14)|Lung(28;9.39e-14) TTGGAGCACCACATCCTTAGTTATCCGGCC 0.448 NA 14 122 --- --- --- --- NA NA NA NA EIF4G1 1981 broad.mit.edu 37 3 184039744 184039746 + In_Frame_Del DEL GAA GAA - TCGA-CV-7406-01A-11D-2078-08 TCGA-CV-7406-10A-01D-2078-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 8c9effa8-acb6-4db0-874a-8f0df386924c b00b903e-f57c-4c6c-b6b8-ae40489e6167 g.chr3:184039744_184039746delGAA uc003fnp.2 + 10 1570_1572 c.1372_1374delGAA c.(1372-1374)GAAdel p.E465del EIF4G1_uc003fno.1_In_Frame_Del_p.E406del|EIF4G1_uc010hxw.1_In_Frame_Del_p.E301del|EIF4G1_uc003fnt.2_In_Frame_Del_p.E176del|EIF4G1_uc003fnq.2_In_Frame_Del_p.E378del|EIF4G1_uc003fnr.2_In_Frame_Del_p.E301del|EIF4G1_uc010hxx.2_In_Frame_Del_p.E472del|EIF4G1_uc003fns.2_In_Frame_Del_p.E425del|EIF4G1_uc010hxy.2_In_Frame_Del_p.E472del|EIF4G1_uc003fnv.3_In_Frame_Del_p.E465del|EIF4G1_uc003fnu.3_In_Frame_Del_p.E465del|EIF4G1_uc003fnw.2_In_Frame_Del_p.E472del|EIF4G1_uc003fnx.2_In_Frame_Del_p.E269del|EIF4G1_uc003fny.3_In_Frame_Del_p.E269del NM_198241 NP_937884 Q04637 IF4G1_HUMAN eukaryotic translation initiation factor 4 465 Poly-Glu. insulin receptor signaling pathway|interspecies interaction between organisms|nuclear-transcribed mRNA poly(A) tail shortening|regulation of translational initiation cytosol|eukaryotic translation initiation factor 4F complex protein binding|translation initiation factor activity lung(2)|ovary(2)|upper_aerodigestive_tract(1)|large_intestine(1)|central_nervous_system(1) 7 all_cancers(143;1.06e-10)|Ovarian(172;0.0339) Epithelial(37;1.53e-33)|OV - Ovarian serous cystadenocarcinoma(80;2.72e-22) GGAGGAAATGgaagaagaagaag 0.443 NA 7 132 --- --- --- --- NA NA NA NA FLNC 2318 broad.mit.edu 37 7 128490905 128490907 + In_Frame_Del DEL ACA ACA - TCGA-CV-7406-01A-11D-2078-08 TCGA-CV-7406-10A-01D-2078-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 8c9effa8-acb6-4db0-874a-8f0df386924c b00b903e-f57c-4c6c-b6b8-ae40489e6167 g.chr7:128490905_128490907delACA uc003vnz.3 + 33 5656_5658 c.5447_5449delACA c.(5446-5451)GACAAC>GAC p.N1817del FLNC_uc003voa.3_In_Frame_Del_p.N1784del NM_001458 NP_001449 Q14315 FLNC_HUMAN gamma filamin isoform a 1817 Filamin 16. cell junction assembly cytoskeleton|cytosol|plasma membrane|sarcomere actin binding breast(5)|large_intestine(3)|ovary(2)|central_nervous_system(1)|skin(1) 12 AACATCACCGACAACAAGGACGG 0.596 NA 27 73 --- --- --- --- NA NA NA NA ARHGEF10 9639 broad.mit.edu 37 8 1905058 1905067 + Frame_Shift_Del DEL GCACTTCCGA GCACTTCCGA - rs145146038 byFrequency TCGA-CV-7406-01A-11D-2078-08 TCGA-CV-7406-10A-01D-2078-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 8c9effa8-acb6-4db0-874a-8f0df386924c b00b903e-f57c-4c6c-b6b8-ae40489e6167 g.chr8:1905058_1905067delGCACTTCCGA uc003wpr.2 + 29 3842_3851 c.3664_3673delGCACTTCCGA c.(3664-3675)GCACTTCCGAGTfs p.A1222fs ARHGEF10_uc003wps.2_Frame_Shift_Del_p.A1184fs|ARHGEF10_uc010lre.2_Frame_Shift_Del_p.A873fs NM_014629 NP_055444 O15013 ARHGA_HUMAN Rho guanine nucleotide exchange factor 10 1247_1250 centrosome duplication|myelination in peripheral nervous system|positive regulation of GTP catabolic process|positive regulation of stress fiber assembly|regulation of Rho protein signal transduction|spindle assembly involved in mitosis centrosome|cytosol|soluble fraction kinesin binding|Rho guanyl-nucleotide exchange factor activity large_intestine(1) 1 Colorectal(14;3.46e-05)|Renal(68;0.000518)|Ovarian(12;0.00409)|Myeloproliferative disorder(644;0.0255)|Hepatocellular(245;0.0834) COAD - Colon adenocarcinoma(149;1.62e-05)|BRCA - Breast invasive adenocarcinoma(11;1.68e-05)|KIRC - Kidney renal clear cell carcinoma(542;0.00361)|READ - Rectum adenocarcinoma(644;0.0718) CCAGAAGGACGCACTTCCGAGTGGAGGAGC 0.59 NA 15 70 --- --- --- --- NA NA NA NA