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 PADI6 353238 broad.mit.edu 37 1 17727771 17727771 + Missense_Mutation SNP G G A TCGA-CV-7423-01A-11D-2078-08 TCGA-CV-7423-10A-01D-2078-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq a99653e0-2751-4423-93f7-abcf258c9868 4c6dc4b7-913a-4c75-9af4-c3fda9204cf1 g.chr1:17727771G>A uc001bak.1 + 17 1922 c.1922G>A c.(1921-1923)TGC>TAC p.C641Y NM_207421 NP_997304 Q6TGC4 PADI6_HUMAN peptidylarginine deiminase type 6 633 peptidyl-citrulline biosynthetic process from peptidyl-arginine cytoplasm|nucleus calcium ion binding|protein-arginine deiminase activity breast(1) 1 Colorectal(325;3.46e-05)|Breast(348;0.000162)|all_lung(284;0.000337)|Lung NSC(340;0.000419)|Renal(390;0.000518)|Ovarian(437;0.00409)|Myeloproliferative disorder(586;0.0255) UCEC - Uterine corpus endometrioid carcinoma (279;0.00488)|BRCA - Breast invasive adenocarcinoma(304;7.59e-06)|COAD - Colon adenocarcinoma(227;1.18e-05)|Kidney(64;0.000186)|KIRC - Kidney renal clear cell carcinoma(64;0.00272)|STAD - Stomach adenocarcinoma(196;0.0134)|READ - Rectum adenocarcinoma(331;0.0655)|Lung(427;0.189) L-Citrulline(DB00155) AAGGGGACCTGCTGCCTGGAA 0.537 NA 4 38 0 0 0 0 KIAA0754 643314 broad.mit.edu 37 1 39878082 39878082 + Silent SNP T T C TCGA-CV-7423-01A-11D-2078-08 TCGA-CV-7423-10A-01D-2078-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq a99653e0-2751-4423-93f7-abcf258c9868 4c6dc4b7-913a-4c75-9af4-c3fda9204cf1 g.chr1:39878082T>C uc009vvt.1 + 1 2907 c.2145T>C c.(2143-2145)TGT>TGC p.C715C MACF1_uc010ois.1_Intron|MACF1_uc001cda.1_Intron|MACF1_uc001cdc.1_Intron|MACF1_uc010oiu.1_Intron NM_015038 NP_055853 O94854 K0754_HUMAN hypothetical protein LOC643314 579 0 Lung NSC(20;5.57e-06)|Ovarian(52;0.00769)|Acute lymphoblastic leukemia(166;0.074) Myeloproliferative disorder(586;0.0393) 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) AGAAAGTTTGTGATGAGGATG 0.423 NA 6 38 0 0 0 0 EVI5 7813 broad.mit.edu 37 1 93167729 93167729 + Missense_Mutation SNP C C T TCGA-CV-7423-01A-11D-2078-08 TCGA-CV-7423-10A-01D-2078-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq a99653e0-2751-4423-93f7-abcf258c9868 4c6dc4b7-913a-4c75-9af4-c3fda9204cf1 g.chr1:93167729C>T uc001dox.2 - 5 750 c.740G>A c.(739-741)AGT>AAT p.S247N EVI5_uc010otf.1_Missense_Mutation_p.S247N NM_005665 NP_005656 O60447 EVI5_HUMAN ecotropic viral integration site 5 247 Dimerization.|Interaction with alpha-tubulin, gamma- tubulin, BIRC5 and FBXO5.|Rab-GAP TBC. cell cycle|cell division|cell proliferation|multicellular organismal development microtubule organizing center|nucleus|spindle protein binding|Rab GTPase activator activity ovary(1)|breast(1) 2 all_lung(203;0.00146)|Lung NSC(277;0.00565)|all_neural(321;0.185)|Melanoma(281;0.193)|Glioma(108;0.203) Epithelial(280;8.09e-25)|OV - Ovarian serous cystadenocarcinoma(397;1.27e-22)|all cancers(265;1.74e-21)|GBM - Glioblastoma multiforme(16;0.00233)|BRCA - Breast invasive adenocarcinoma(282;0.211) TATAAAAGCACTTCCTTGACA 0.308 NA 8 34 0 0 0 0 ABCA4 24 broad.mit.edu 37 1 94496611 94496611 + Silent SNP G G A TCGA-CV-7423-01A-11D-2078-08 TCGA-CV-7423-10A-01D-2078-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq a99653e0-2751-4423-93f7-abcf258c9868 4c6dc4b7-913a-4c75-9af4-c3fda9204cf1 g.chr1:94496611G>A uc001dqh.2 - 28 4298 c.4194C>T c.(4192-4194)GGC>GGT p.G1398G NM_000350 NP_000341 P78363 ABCA4_HUMAN ATP-binding cassette, sub-family A member 4 1398 Extracellular. phototransduction, visible light|visual perception integral to plasma membrane|membrane fraction ATP binding|ATPase activity, coupled to transmembrane movement of substances ovary(4)|skin(4)|central_nervous_system(2)|upper_aerodigestive_tract(1)|breast(1) 12 all_lung(203;0.000757)|Lung NSC(277;0.00335) all cancers(265;0.00432)|GBM - Glioblastoma multiforme(16;0.00715)|Epithelial(280;0.171) CGGGGTATTCGCCAAAAGGAG 0.512 NA 6 23 0 0 0 0 CSF1 1435 broad.mit.edu 37 1 110456910 110456910 + Silent SNP C C T TCGA-CV-7423-01A-11D-2078-08 TCGA-CV-7423-10A-01D-2078-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq a99653e0-2751-4423-93f7-abcf258c9868 4c6dc4b7-913a-4c75-9af4-c3fda9204cf1 g.chr1:110456910C>T uc001dyu.2 + 2 482 c.69C>T c.(67-69)GTC>GTT p.V23V CSF1_uc001dyt.2_Silent_p.V23V|CSF1_uc001dyv.3_Silent_p.V23V|CSF1_uc001dyw.3_Silent_p.V23V NM_172212 NP_757351 P09603 CSF1_HUMAN colony stimulating factor 1 isoform a precursor 23 cell proliferation|developmental process involved in reproduction|macrophage differentiation|monocyte activation|osteoclast differentiation|positive regulation of cell migration|positive regulation of cell-matrix adhesion|positive regulation of cellular protein metabolic process|positive regulation of gene expression|positive regulation of macrophage derived foam cell differentiation|positive regulation of macrophage differentiation|positive regulation of monocyte differentiation|positive regulation of mononuclear cell proliferation|positive regulation of protein kinase activity extracellular space|integral to membrane|perinuclear region of cytoplasm|plasma membrane|receptor complex cytokine activity|growth factor activity|macrophage colony-stimulating factor receptor binding|protein homodimerization activity ovary(1) 1 all_epithelial(167;3.58e-05)|all_lung(203;0.000116)|Lung NSC(277;0.000233)|Acute lymphoblastic leukemia(138;0.204) Lung(183;0.0238)|Colorectal(144;0.112)|all cancers(265;0.117)|Epithelial(280;0.127)|LUSC - Lung squamous cell carcinoma(189;0.135) TGTTGTTGGTCTGTCTCCTGG 0.587 NA 16 29 0 0 0 0 RSBN1 54665 broad.mit.edu 37 1 114354936 114354936 + Silent SNP C C T TCGA-CV-7423-01A-11D-2078-08 TCGA-CV-7423-10A-01D-2078-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq a99653e0-2751-4423-93f7-abcf258c9868 4c6dc4b7-913a-4c75-9af4-c3fda9204cf1 g.chr1:114354936C>T uc001edq.2 - 1 135 c.99G>A c.(97-99)GCG>GCA p.A33A RSBN1_uc001edr.2_RNA NM_018364 NP_060834 Q5VWQ0 RSBN1_HUMAN round spermatid basic protein 1 33 nucleus ovary(1) 1 Lung SC(450;0.184) all_cancers(81;3.78e-08)|all_epithelial(167;5.56e-08)|all_lung(203;6.97e-06)|Lung NSC(69;1.18e-05) Lung(183;0.0234)|Colorectal(144;0.0686)|all cancers(265;0.0792)|Epithelial(280;0.0866)|COAD - Colon adenocarcinoma(174;0.111)|LUSC - Lung squamous cell carcinoma(189;0.133) CCCCCCCGTCCGCGCATCGCG 0.672 NA 4 53 0 0 0 0 NBPF10 100132406 broad.mit.edu 37 1 145302714 145302714 + Silent SNP A A G rs9424867 TCGA-CV-7423-01A-11D-2078-08 TCGA-CV-7423-10A-01D-2078-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq a99653e0-2751-4423-93f7-abcf258c9868 4c6dc4b7-913a-4c75-9af4-c3fda9204cf1 g.chr1:145302714A>G uc001end.3 + 8 1187 c.1152A>G c.(1150-1152)TTA>TTG p.L384L NBPF10_uc009wir.2_Intron|NBPF9_uc010oye.1_Intron|NBPF9_uc010oyf.1_Intron|NBPF9_uc010oyg.1_Intron|NBPF10_uc001emp.3_Intron|NBPF10_uc010oyi.1_5'UTR|NBPF10_uc001emq.1_Silent_p.L113L NM_001039703 NP_001034792 A6NDV3 A6NDV3_HUMAN hypothetical protein LOC100132406 Error:AA_residue_mismatch_between_GAF_and_UniProt_prot_seqs_after_alignment 0 all_hematologic(923;0.032) Colorectal(1306;1.36e-07)|KIRC - Kidney renal clear cell carcinoma(1967;0.00258) AGGAGAAGTTACGGGAAGGGA 0.527 NA 4 34 0 0 0 0 ANXA9 8416 broad.mit.edu 37 1 150967079 150967079 + Silent SNP G G A TCGA-CV-7423-01A-11D-2078-08 TCGA-CV-7423-10A-01D-2078-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq a99653e0-2751-4423-93f7-abcf258c9868 4c6dc4b7-913a-4c75-9af4-c3fda9204cf1 g.chr1:150967079G>A uc001ewa.2 + 13 1349 c.879G>A c.(877-879)CTG>CTA p.L293L NM_003568 NP_003559 O76027 ANXA9_HUMAN annexin A9 293 Annexin 4. cell-cell adhesion cell surface|cytosol acetylcholine receptor activity|calcium ion binding|calcium-dependent phospholipid binding|phosphatidylserine binding|protein homodimerization activity 0 all_lung(15;1.09e-34)|Lung NSC(24;1.1e-30)|Lung SC(34;0.00202)|Ovarian(49;0.0167)|all_hematologic(923;0.0597)|Hepatocellular(266;0.0997)|Melanoma(130;0.185) UCEC - Uterine corpus endometrioid carcinoma (35;0.0486)|LUSC - Lung squamous cell carcinoma(543;0.211) ACCAAGTCCTGATTCGCATCC 0.483 NA 12 149 0 0 0 0 FAM5C 339479 broad.mit.edu 37 1 190203579 190203579 + Missense_Mutation SNP C C T TCGA-CV-7423-01A-11D-2078-08 TCGA-CV-7423-10A-01D-2078-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq a99653e0-2751-4423-93f7-abcf258c9868 4c6dc4b7-913a-4c75-9af4-c3fda9204cf1 g.chr1:190203579C>T uc001gse.1 - 5 879 c.647G>A c.(646-648)GGC>GAC p.G216D FAM5C_uc010pot.1_Missense_Mutation_p.G114D NM_199051 NP_950252 Q76B58 FAM5C_HUMAN family with sequence similarity 5, member C 216 extracellular region lung(2)|ovary(1)|kidney(1)|skin(1) 5 Prostate(682;0.198) GTTACTGCAGCCAAGAGGACC 0.378 NA 9 51 0 0 0 0 KIF21B 23046 broad.mit.edu 37 1 200946364 200946364 + Missense_Mutation SNP G G A TCGA-CV-7423-01A-11D-2078-08 TCGA-CV-7423-10A-01D-2078-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq a99653e0-2751-4423-93f7-abcf258c9868 4c6dc4b7-913a-4c75-9af4-c3fda9204cf1 g.chr1:200946364G>A uc001gvs.1 - 31 4618 c.4301C>T c.(4300-4302)GCC>GTC p.A1434V KIF21B_uc001gvr.1_Missense_Mutation_p.A1421V|KIF21B_uc009wzl.1_Missense_Mutation_p.A1434V|KIF21B_uc010ppn.1_Missense_Mutation_p.A1421V NM_017596 NP_060066 O75037 KI21B_HUMAN kinesin family member 21B 1434 WD 3. microtubule-based movement cytoplasm|microtubule ATP binding|microtubule motor activity ovary(3)|skin(3) 6 GATGCGGACGGCATTGCCCGA 0.632 NA 4 98 0 0 0 0 CR1 1378 broad.mit.edu 37 1 207793408 207793408 + Missense_Mutation SNP C C G TCGA-CV-7423-01A-11D-2078-08 TCGA-CV-7423-10A-01D-2078-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq a99653e0-2751-4423-93f7-abcf258c9868 4c6dc4b7-913a-4c75-9af4-c3fda9204cf1 g.chr1:207793408C>G uc001hfy.2 + 35 6040 c.5900C>G c.(5899-5901)TCT>TGT p.S1967C CR1_uc001hfx.2_Missense_Mutation_p.S2417C NM_000573 NP_000564 P17927 CR1_HUMAN complement receptor 1 isoform F precursor 1967 Sushi 30.|Extracellular (Potential). complement activation, classical pathway|innate immune response integral to plasma membrane complement receptor activity ovary(3) 3 AAATGTACCTCTCGTAAGTGC 0.493 NA OREG0014194 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 4 14 0 0 0 0 CABC1 56997 broad.mit.edu 37 1 227169739 227169739 + Missense_Mutation SNP G G A rs148376283 TCGA-CV-7423-01A-11D-2078-08 TCGA-CV-7423-10A-01D-2078-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq a99653e0-2751-4423-93f7-abcf258c9868 4c6dc4b7-913a-4c75-9af4-c3fda9204cf1 g.chr1:227169739G>A uc001hqm.1 + 11 4161 c.742G>A c.(742-744)GTG>ATG p.V248M CABC1_uc001hqn.1_Missense_Mutation_p.V248M|CABC1_uc009xeq.1_Missense_Mutation_p.V196M|CABC1_uc010pvq.1_Translation_Start_Site|CABC1_uc010pvr.1_Translation_Start_Site|CABC1_uc001hqo.1_Translation_Start_Site|CABC1_uc009xer.1_5'Flank NM_020247 NP_064632 Q8NI60 ADCK3_HUMAN chaperone, ABC1 activity of bc1 complex like 248 cell death mitochondrion ATP binding|protein serine/threonine kinase activity 0 Prostate(94;0.0771) GAAGAAGGCCGTGCTGGGTTC 0.652 NA 29 36 0 0 0 0 NID1 4811 broad.mit.edu 37 1 236180536 236180536 + Silent SNP C C T TCGA-CV-7423-01A-11D-2078-08 TCGA-CV-7423-10A-01D-2078-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq a99653e0-2751-4423-93f7-abcf258c9868 4c6dc4b7-913a-4c75-9af4-c3fda9204cf1 g.chr1:236180536C>T uc001hxo.2 - 10 2268 c.2166G>A c.(2164-2166)GGG>GGA p.G722G NID1_uc009xgd.2_Intron NM_002508 NP_002499 P14543 NID1_HUMAN nidogen 1 precursor 722 EGF-like 3; calcium-binding (Potential). cell-matrix adhesion basement membrane calcium ion binding large_intestine(1)|pancreas(1) 2 Ovarian(103;0.0544)|Breast(184;0.23) all_cancers(173;0.00491)|Prostate(94;0.184)|Acute lymphoblastic leukemia(190;0.229) OV - Ovarian serous cystadenocarcinoma(106;0.00162) Becaplermin(DB00102)|Urokinase(DB00013) TTGTGTGGCTCCCACACACTG 0.433 NA 18 93 0 0 0 0 CHRM3 1131 broad.mit.edu 37 1 240071198 240071198 + Nonsense_Mutation SNP C C A TCGA-CV-7423-01A-11D-2078-08 TCGA-CV-7423-10A-01D-2078-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq a99653e0-2751-4423-93f7-abcf258c9868 4c6dc4b7-913a-4c75-9af4-c3fda9204cf1 g.chr1:240071198C>A uc001hyp.2 + 5 1226 c.447C>A c.(445-447)TAC>TAA p.Y149* NM_000740 NP_000731 P20309 ACM3_HUMAN cholinergic receptor, muscarinic 3 149 Helical; Name=3; (By similarity). cell proliferation|energy reserve metabolic process|nervous system development|protein modification process|regulation of insulin secretion basolateral plasma membrane|cell junction|integral to plasma membrane|postsynaptic membrane muscarinic acetylcholine receptor activity|phosphatidylinositol phospholipase C activity ovary(4)|skin(1) 5 Ovarian(103;0.127) all_cancers(173;0.00567)|all_neural(198;0.203) OV - Ovarian serous cystadenocarcinoma(106;0.00989) Anisotropine Methylbromide(DB00517)|Atropine(DB00572)|Benzquinamide(DB00767)|Cevimeline(DB00185)|Cryptenamine(DB00785)|Cyclizine(DB01176)|Darifenacin(DB00496)|Diphemanil Methylsulfate(DB00729)|Diphenidol(DB01231)|Homatropine Methylbromide(DB00725)|Methotrimeprazine(DB01403)|Metixene(DB00340)|Olanzapine(DB00334)|Oxybutynin(DB01062)|Oxyphencyclimine(DB00383)|Promazine(DB00420)|Promethazine(DB01069)|Propiomazine(DB00777)|Solifenacin(DB01591)|Thiethylperazine(DB00372)|Tiotropium(DB01409)|Tolterodine(DB01036)|Tridihexethyl(DB00505) CCATTGACTACGTAGCCAGCA 0.473 NA 27 34 9.86e-18 1.15e-17 1 0 FMN2 56776 broad.mit.edu 37 1 240492666 240492666 + Silent SNP C C A TCGA-CV-7423-01A-11D-2078-08 TCGA-CV-7423-10A-01D-2078-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq a99653e0-2751-4423-93f7-abcf258c9868 4c6dc4b7-913a-4c75-9af4-c3fda9204cf1 g.chr1:240492666C>A uc010pyd.1 + 10 4560 c.4335C>A c.(4333-4335)CCC>CCA p.P1445P FMN2_uc010pye.1_Silent_p.P1449P|FMN2_uc010pyf.1_Silent_p.P91P|FMN2_uc010pyg.1_Silent_p.P41P NM_020066 NP_064450 Q9NZ56 FMN2_HUMAN formin 2 1445 FH2. actin cytoskeleton organization|establishment of meiotic spindle localization|intracellular signal transduction|meiotic chromosome movement towards spindle pole|meiotic metaphase I|multicellular organismal development|oogenesis|polar body extrusion after meiotic divisions actin binding ovary(4)|pancreas(3)|skin(3)|large_intestine(1)|central_nervous_system(1) 12 Ovarian(103;0.127) all_cancers(173;0.013) OV - Ovarian serous cystadenocarcinoma(106;0.0106) CACTAATCCCCAACTTTTCAG 0.363 NA 11 87 0.000673444 0.000717068 1 0 UPF2 26019 broad.mit.edu 37 10 11973704 11973704 + Missense_Mutation SNP C C G TCGA-CV-7423-01A-11D-2078-08 TCGA-CV-7423-10A-01D-2078-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq a99653e0-2751-4423-93f7-abcf258c9868 4c6dc4b7-913a-4c75-9af4-c3fda9204cf1 g.chr10:11973704C>G uc001ila.2 - 19 4098 c.3624G>C c.(3622-3624)GAG>GAC p.E1208D UPF2_uc001ilb.2_Missense_Mutation_p.E1208D|UPF2_uc001ilc.2_Missense_Mutation_p.E1208D NM_080599 NP_542166 Q9HAU5 RENT2_HUMAN UPF2 regulator of nonsense transcripts homolog 1208 Sufficient for interaction with UPF1 C- terminus.|Sufficient for interaction with EIF4A1 and EIF1. mRNA export from nucleus|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay exon-exon junction complex|perinuclear region of cytoplasm identical protein binding|RNA binding central_nervous_system(2)|ovary(1) 3 Renal(717;0.228) TTCTCATCCTCTCTTCTTGTT 0.373 NA 10 58 0 0 0 0 CHST15 51363 broad.mit.edu 37 10 125804104 125804104 + Missense_Mutation SNP T T C TCGA-CV-7423-01A-11D-2078-08 TCGA-CV-7423-10A-01D-2078-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq a99653e0-2751-4423-93f7-abcf258c9868 4c6dc4b7-913a-4c75-9af4-c3fda9204cf1 g.chr10:125804104T>C uc001lhl.2 - 2 1391 c.878A>G c.(877-879)AAG>AGG p.K293R CHST15_uc001lhm.2_Missense_Mutation_p.K293R|CHST15_uc001lhn.2_Missense_Mutation_p.K293R|CHST15_uc010que.1_Missense_Mutation_p.K293R|CHST15_uc001lho.2_Missense_Mutation_p.K293R NM_015892 NP_056976 Q7LFX5 CHSTF_HUMAN B cell RAG associated protein 293 Lumenal (Potential). hexose biosynthetic process Golgi membrane|integral to membrane 3'-phosphoadenosine 5'-phosphosulfate binding|N-acetylgalactosamine 4-sulfate 6-O-sulfotransferase activity ovary(1) 1 ACCAAAGCGCTTCCGGGTCCA 0.637 NA 7 12 0 0 0 0 PHLDA2 7262 broad.mit.edu 37 11 2950579 2950579 + Missense_Mutation SNP C C T TCGA-CV-7423-01A-11D-2078-08 TCGA-CV-7423-10A-01D-2078-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq a99653e0-2751-4423-93f7-abcf258c9868 4c6dc4b7-913a-4c75-9af4-c3fda9204cf1 g.chr11:2950579C>T uc001lxa.1 - 1 72 c.16G>A c.(16-18)GAG>AAG p.E6K NM_003311 NP_003302 Q53GA4 PHLA2_HUMAN pleckstrin homology-like domain family A member 6 apoptosis cytoplasm|membrane 0 all_epithelial(84;0.000124)|Medulloblastoma(188;0.00106)|Breast(177;0.00328)|Ovarian(85;0.00556)|all_neural(188;0.00681)|all_lung(207;0.198) BRCA - Breast invasive adenocarcinoma(625;0.0025)|LUSC - Lung squamous cell carcinoma(625;0.19) CGTAGCACCTCGTCGGGGGAT 0.677 NA 10 8 0 0 0 0 HPX 3263 broad.mit.edu 37 11 6452604 6452604 + Missense_Mutation SNP A A G TCGA-CV-7423-01A-11D-2078-08 TCGA-CV-7423-10A-01D-2078-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq a99653e0-2751-4423-93f7-abcf258c9868 4c6dc4b7-913a-4c75-9af4-c3fda9204cf1 g.chr11:6452604A>G uc001mdg.2 - 10 1287 c.1226T>C c.(1225-1227)ATG>ACG p.M409T HPX_uc001mdf.2_Missense_Mutation_p.M155T|HPX_uc009yfc.2_RNA NM_000613 NP_000604 P02790 HEMO_HUMAN hemopexin precursor 409 cellular iron ion homeostasis|interspecies interaction between organisms extracellular space heme transporter activity|metal ion binding|protein binding 0 Medulloblastoma(188;0.00776)|all_neural(188;0.0652)|Breast(177;0.114) Epithelial(150;5.46e-08)|BRCA - Breast invasive adenocarcinoma(625;0.19) GGACTTTTCCATACACAAGGC 0.562 NA 15 34 0 0 0 0 TUB 7275 broad.mit.edu 37 11 8123160 8123160 + Silent SNP C C T TCGA-CV-7423-01A-11D-2078-08 TCGA-CV-7423-10A-01D-2078-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq a99653e0-2751-4423-93f7-abcf258c9868 4c6dc4b7-913a-4c75-9af4-c3fda9204cf1 g.chr11:8123160C>T uc001mga.2 + 12 1664 c.1515C>T c.(1513-1515)TGC>TGT p.C505C TUB_uc010rbk.1_Silent_p.C511C|TUB_uc001mfy.2_Silent_p.C560C NM_177972 NP_813977 P50607 TUB_HUMAN tubby isoform b 505 phagocytosis|positive regulation of phagocytosis|response to stimulus cytoplasm|extracellular region|nucleus|plasma membrane ovary(1) 1 all_lung(207;6.91e-20)|Lung NSC(207;3.36e-17) Epithelial(150;1.69e-62)|BRCA - Breast invasive adenocarcinoma(625;8.54e-06)|LUSC - Lung squamous cell carcinoma(625;0.000184) AGCTGGCGTGCGAGTAGAGGC 0.597 NA 15 8 0 0 0 0 MS4A14 84689 broad.mit.edu 37 11 60170536 60170536 + Splice_Site SNP T T C TCGA-CV-7423-01A-11D-2078-08 TCGA-CV-7423-10A-01D-2078-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq a99653e0-2751-4423-93f7-abcf258c9868 4c6dc4b7-913a-4c75-9af4-c3fda9204cf1 g.chr11:60170536T>C uc001npj.2 + 4 1033 c.468_splice c.e4+2 p.I156_splice MS4A14_uc001npi.2_Splice_Site_p.I44_splice|MS4A14_uc001npn.2_Splice_Site|MS4A14_uc001npk.2_Splice_Site_p.I139_splice|MS4A14_uc001npl.2_Splice_Site|MS4A14_uc001npm.2_Splice_Site NM_032597 NP_115986 Q96JA4 M4A14_HUMAN membrane-spanning 4-domains, subfamily A, member integral to membrane receptor activity breast(1) 1 CTTTTCATTGTAAGTGGTCTT 0.343 NA 21 57 0 0 0 0 MTA2 9219 broad.mit.edu 37 11 62361790 62361790 + Missense_Mutation SNP C C G TCGA-CV-7423-01A-11D-2078-08 TCGA-CV-7423-10A-01D-2078-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq a99653e0-2751-4423-93f7-abcf258c9868 4c6dc4b7-913a-4c75-9af4-c3fda9204cf1 g.chr11:62361790C>G uc001ntq.1 - 17 2163 c.1782G>C c.(1780-1782)CAG>CAC p.Q594H TUT1_uc001nto.2_5'Flank|MTA2_uc010rlx.1_Missense_Mutation_p.Q421H NM_004739 NP_004730 O94776 MTA2_HUMAN metastasis-associated protein 2 594 chromatin assembly or disassembly NuRD complex protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding ovary(1)|skin(1) 2 GGTTTAGTTTCTGACGCTTGG 0.567 NA 8 49 0 0 0 0 TBC1D10C 374403 broad.mit.edu 37 11 67172899 67172899 + Silent SNP G G A TCGA-CV-7423-01A-11D-2078-08 TCGA-CV-7423-10A-01D-2078-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq a99653e0-2751-4423-93f7-abcf258c9868 4c6dc4b7-913a-4c75-9af4-c3fda9204cf1 g.chr11:67172899G>A uc001ola.2 + 4 311 c.282G>A c.(280-282)CCG>CCA p.P94P PPP1CA_uc001okx.1_Intron|TBC1D10C_uc001okz.2_Silent_p.P94P|TBC1D10C_uc001olb.2_RNA NM_198517 NP_940919 Q8IV04 TB10C_HUMAN TBC1 domain family, member 10C 94 Rab-GAP TBC. intracellular Rab GTPase activator activity 0 BRCA - Breast invasive adenocarcinoma(15;2.26e-06) AAGGCATCCCGTCTGCCCTGC 0.657 NA 13 38 0 0 0 0 TPCN2 219931 broad.mit.edu 37 11 68822187 68822187 + Splice_Site SNP A A G TCGA-CV-7423-01A-11D-2078-08 TCGA-CV-7423-10A-01D-2078-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq a99653e0-2751-4423-93f7-abcf258c9868 4c6dc4b7-913a-4c75-9af4-c3fda9204cf1 g.chr11:68822187A>G uc001oos.2 + 3 291 c.175_splice c.e3-2 p.Y59_splice TPCN2_uc009ysk.1_Splice_Site|TPCN2_uc001oor.2_Intron|TPCN2_uc010rqg.1_Splice_Site_p.Y59_splice NM_139075 NP_620714 Q8NHX9 TPC2_HUMAN two pore segment channel 2 cellular calcium ion homeostasis|smooth muscle contraction endosome membrane|integral to membrane|lysosomal membrane NAADP-sensitive calcium-release channel activity|voltage-gated calcium channel activity 0 STAD - Stomach adenocarcinoma(18;0.0208)|LUAD - Lung adenocarcinoma(13;0.0713) TTTCGCTTGTAGTACCGCTCC 0.577 NA 6 25 0 0 0 0 NFRKB 4798 broad.mit.edu 37 11 129748208 129748208 + Missense_Mutation SNP G G A TCGA-CV-7423-01A-11D-2078-08 TCGA-CV-7423-10A-01D-2078-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq a99653e0-2751-4423-93f7-abcf258c9868 4c6dc4b7-913a-4c75-9af4-c3fda9204cf1 g.chr11:129748208G>A uc001qfi.2 - 15 1708 c.1507C>T c.(1507-1509)CGG>TGG p.R503W NFRKB_uc001qfg.2_Missense_Mutation_p.R528W|NFRKB_uc001qfh.2_Missense_Mutation_p.R526W|NFRKB_uc010sbw.1_Silent_p.L513L NM_001143835 NP_001137307 Q6P4R8 NFRKB_HUMAN nuclear factor related to kappaB binding protein 503 DNA recombination|DNA repair|inflammatory response|regulation of transcription, DNA-dependent|transcription from RNA polymerase II promoter Ino80 complex DNA binding|protease binding ovary(3) 3 all_hematologic(175;0.0537) Breast(109;0.00526)|Lung NSC(97;0.00901)|all_lung(97;0.018)|Medulloblastoma(222;0.0523)|all_neural(223;0.186) OV - Ovarian serous cystadenocarcinoma(99;0.0167)|Lung(977;0.171)|LUSC - Lung squamous cell carcinoma(976;0.184) ACTCACACCCGAGGGACAGGT 0.433 NA 19 20 0 0 0 0 PUS7L 83448 broad.mit.edu 37 12 44130374 44130374 + Missense_Mutation SNP T T A TCGA-CV-7423-01A-11D-2078-08 TCGA-CV-7423-10A-01D-2078-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq a99653e0-2751-4423-93f7-abcf258c9868 4c6dc4b7-913a-4c75-9af4-c3fda9204cf1 g.chr12:44130374T>A uc001rnq.3 - 7 2024 c.1535A>T c.(1534-1536)GAG>GTG p.E512V PUS7L_uc001rnr.3_Missense_Mutation_p.E512V|PUS7L_uc001rns.3_Missense_Mutation_p.E512V|PUS7L_uc009zkb.2_Missense_Mutation_p.E199V NM_001098615 NP_001092085 Q9H0K6 PUS7L_HUMAN pseudouridylate synthase 7 homolog (S. 512 TRUD. pseudouridine synthesis|tRNA processing pseudouridine synthase activity|RNA binding pancreas(1) 1 all_cancers(12;0.00027) Lung NSC(34;0.114)|all_lung(34;0.24) GBM - Glioblastoma multiforme(48;0.0402) ACAACCTTCCTCGGTCATGCC 0.448 NA 12 50 0 0 0 0 PUS7L 83448 broad.mit.edu 37 12 44148848 44148848 + Silent SNP A A G TCGA-CV-7423-01A-11D-2078-08 TCGA-CV-7423-10A-01D-2078-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq a99653e0-2751-4423-93f7-abcf258c9868 4c6dc4b7-913a-4c75-9af4-c3fda9204cf1 g.chr12:44148848A>G uc001rnq.3 - 2 690 c.201T>C c.(199-201)TTT>TTC p.F67F PUS7L_uc001rnr.3_Silent_p.F67F|PUS7L_uc001rns.3_Silent_p.F67F|PUS7L_uc009zkb.2_Intron NM_001098615 NP_001092085 Q9H0K6 PUS7L_HUMAN pseudouridylate synthase 7 homolog (S. 67 pseudouridine synthesis|tRNA processing pseudouridine synthase activity|RNA binding pancreas(1) 1 all_cancers(12;0.00027) Lung NSC(34;0.114)|all_lung(34;0.24) GBM - Glioblastoma multiforme(48;0.0402) GTTTTTTGGGAAAATTATTTG 0.323 NA 4 52 0 0 0 0 EIF4B 1975 broad.mit.edu 37 12 53410391 53410391 + Missense_Mutation SNP G G C TCGA-CV-7423-01A-11D-2078-08 TCGA-CV-7423-10A-01D-2078-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq a99653e0-2751-4423-93f7-abcf258c9868 4c6dc4b7-913a-4c75-9af4-c3fda9204cf1 g.chr12:53410391G>C uc001sbh.3 + 2 354 c.148G>C c.(148-150)GAT>CAT p.D50H EIF4B_uc009zmp.1_RNA|EIF4B_uc010snu.1_Missense_Mutation_p.D50H|EIF4B_uc010snv.1_Missense_Mutation_p.D50H|EIF4B_uc001sbi.2_5'UTR NM_001417 NP_001408 P23588 IF4B_HUMAN eukaryotic translation initiation factor 4B 50 insulin receptor signaling pathway|nuclear-transcribed mRNA poly(A) tail shortening|regulation of translational initiation cytosol|eukaryotic translation initiation factor 4F complex nucleotide binding|translation initiation factor activity breast(1)|kidney(1) 2 CCTGGAAGGAGATGGTAACTT 0.403 NA 11 52 0 0 0 0 VPS36 51028 broad.mit.edu 37 13 53007799 53007799 + Missense_Mutation SNP C C T TCGA-CV-7423-01A-11D-2078-08 TCGA-CV-7423-10A-01D-2078-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq a99653e0-2751-4423-93f7-abcf258c9868 4c6dc4b7-913a-4c75-9af4-c3fda9204cf1 g.chr13:53007799C>T uc001vgs.2 - 6 560 c.526G>A c.(526-528)GAG>AAG p.E176K VPS36_uc001vgq.2_Missense_Mutation_p.E118K NM_016075 NP_057159 Q86VN1 VPS36_HUMAN vacuolar protein sorting 36 176 Potential. cellular membrane organization|endosome transport|protein transport|regulation of transcription, DNA-dependent|transcription, DNA-dependent cytosol|late endosome|membrane|nucleus lipid binding skin(1) 1 Breast(56;0.000207)|Lung NSC(96;0.00212)|Hepatocellular(98;0.065)|Prostate(109;0.0771)|all_neural(104;0.173) GBM - Glioblastoma multiforme(99;3.14e-08) ACAGTTACCTCAGAAATGTTT 0.343 NA 3 41 0 0 0 0 CMTM5 116173 broad.mit.edu 37 14 23847950 23847950 + Nonsense_Mutation SNP C C T TCGA-CV-7423-01A-11D-2078-08 TCGA-CV-7423-10A-01D-2078-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq a99653e0-2751-4423-93f7-abcf258c9868 4c6dc4b7-913a-4c75-9af4-c3fda9204cf1 g.chr14:23847950C>T uc010akm.2 + 3 796 c.352C>T c.(352-354)CAG>TAG p.Q118* CMTM5_uc001wjs.2_Intron|CMTM5_uc001wjt.2_Intron|CMTM5_uc010akn.2_Intron|CMTM5_uc001wju.2_Intron|CMTM5_uc010ako.2_Intron NM_138460 NP_612469 Q96DZ9 CKLF5_HUMAN chemokine-like factor superfamily 5 isoform a 118 MARVEL. chemotaxis extracellular space|integral to membrane cytokine activity 0 all_cancers(95;2e-05) GBM - Glioblastoma multiforme(265;0.0064)|READ - Rectum adenocarcinoma(4;0.0276)|Colorectal(4;0.0382) GGTCCAGCCCCAGCCCTGGCC 0.627 NA 5 18 0 0 0 0 TGM5 9333 broad.mit.edu 37 15 43545012 43545012 + Silent SNP G G C TCGA-CV-7423-01A-11D-2078-08 TCGA-CV-7423-10A-01D-2078-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq a99653e0-2751-4423-93f7-abcf258c9868 4c6dc4b7-913a-4c75-9af4-c3fda9204cf1 g.chr15:43545012G>C uc001zrd.1 - 6 815 c.807C>G c.(805-807)GGC>GGG p.G269G TGM5_uc001zre.1_Silent_p.G187G NM_201631 NP_963925 O43548 TGM5_HUMAN transglutaminase 5 isoform 1 269 epidermis development|peptide cross-linking cytoplasm acyltransferase activity|metal ion binding|protein-glutamine gamma-glutamyltransferase activity central_nervous_system(1) 1 all_cancers(109;1.37e-14)|all_epithelial(112;1.26e-12)|Lung NSC(122;2.46e-08)|all_lung(180;2.75e-07)|Melanoma(134;0.0476)|Colorectal(260;0.216) GBM - Glioblastoma multiforme(94;4e-07) L-Glutamine(DB00130) CGGGCTGGCAGCCTGTGGCGT 0.592 NA 11 51 0 0 0 0 CGNL1 84952 broad.mit.edu 37 15 57730854 57730854 + Silent SNP C C T TCGA-CV-7423-01A-11D-2078-08 TCGA-CV-7423-10A-01D-2078-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq a99653e0-2751-4423-93f7-abcf258c9868 4c6dc4b7-913a-4c75-9af4-c3fda9204cf1 g.chr15:57730854C>T uc002aeg.2 + 2 733 c.657C>T c.(655-657)TGC>TGT p.C219C CGNL1_uc010bfw.2_Silent_p.C219C NM_032866 NP_116255 Q0VF96 CGNL1_HUMAN cingulin-like 1 219 Head. myosin complex|tight junction motor activity skin(6)|ovary(4)|central_nervous_system(1) 11 all cancers(107;0.121)|GBM - Glioblastoma multiforme(80;0.186) TTCGTTTATGCAGCTCCGTGG 0.527 NA 18 128 0 0 0 0 FAM63B 54629 broad.mit.edu 37 15 59064131 59064131 + Silent SNP C C T TCGA-CV-7423-01A-11D-2078-08 TCGA-CV-7423-10A-01D-2078-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq a99653e0-2751-4423-93f7-abcf258c9868 4c6dc4b7-913a-4c75-9af4-c3fda9204cf1 g.chr15:59064131C>T uc002afj.2 + 1 739 c.537C>T c.(535-537)TTC>TTT p.F179F FAM63B_uc002afi.2_Silent_p.F179F|FAM63B_uc002afk.2_RNA|FAM63B_uc002afl.2_RNA NM_001040450 NP_001035540 Q8NBR6 FA63B_HUMAN hypothetical protein LOC54629 isoform a 179 central_nervous_system(1) 1 TGGAGTCGTTCTCTAACCTGC 0.647 NA 11 19 0 0 0 0 CORO2B 10391 broad.mit.edu 37 15 69003203 69003203 + Missense_Mutation SNP G G A TCGA-CV-7423-01A-11D-2078-08 TCGA-CV-7423-10A-01D-2078-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq a99653e0-2751-4423-93f7-abcf258c9868 4c6dc4b7-913a-4c75-9af4-c3fda9204cf1 g.chr15:69003203G>A uc002arj.3 + 4 495 c.466G>A c.(466-468)GCT>ACT p.A156T CORO2B_uc010bic.2_Missense_Mutation_p.A151T|CORO2B_uc002ark.2_5'Flank NM_006091 NP_006082 Q9UQ03 COR2B_HUMAN coronin, actin binding protein, 2B 156 WD 2. actin cytoskeleton organization actin cytoskeleton|cytoplasm|membrane actin filament binding ovary(3)|skin(2)|large_intestine(1) 6 CCTGTTCAGCGCTGGCTACGA 0.622 NA 3 5 0 0 0 0 ISLR2 57611 broad.mit.edu 37 15 74426761 74426761 + Missense_Mutation SNP C C T TCGA-CV-7423-01A-11D-2078-08 TCGA-CV-7423-10A-01D-2078-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq a99653e0-2751-4423-93f7-abcf258c9868 4c6dc4b7-913a-4c75-9af4-c3fda9204cf1 g.chr15:74426761C>T uc002axd.2 + 4 2435 c.1666C>T c.(1666-1668)CGC>TGC p.R556C ISLR2_uc002axe.2_Missense_Mutation_p.R556C|ISLR2_uc010bjg.2_Missense_Mutation_p.R556C|ISLR2_uc010bjf.2_Missense_Mutation_p.R556C NM_001130136 NP_001123608 Q6UXK2 ISLR2_HUMAN immunoglobulin superfamily containing 556 Extracellular (Potential). positive regulation of axon extension cell surface|integral to membrane|plasma membrane 0 CTACTGGTTCCGCGGCCTGCG 0.637 NA 4 9 0 0 0 0 UBL7 84993 broad.mit.edu 37 15 74740855 74740855 + Silent SNP C C T TCGA-CV-7423-01A-11D-2078-08 TCGA-CV-7423-10A-01D-2078-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq a99653e0-2751-4423-93f7-abcf258c9868 4c6dc4b7-913a-4c75-9af4-c3fda9204cf1 g.chr15:74740855C>T uc002axw.1 - 10 1131 c.969G>A c.(967-969)CAG>CAA p.Q323Q UBL7_uc002axx.1_Silent_p.Q363Q|UBL7_uc010bjr.1_Silent_p.Q214Q|UBL7_uc002axy.1_Silent_p.Q323Q|UBL7_uc002axz.1_Silent_p.Q323Q NM_032907 NP_116296 Q96S82 UBL7_HUMAN ubiquitin-like 7 323 protein binding ovary(1) 1 GAAGGGCATGCTGTAGGGCTT 0.542 NA 23 106 0 0 0 0 PKD1 5310 broad.mit.edu 37 16 2158547 2158547 + Silent SNP G G A TCGA-CV-7423-01A-11D-2078-08 TCGA-CV-7423-10A-01D-2078-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq a99653e0-2751-4423-93f7-abcf258c9868 4c6dc4b7-913a-4c75-9af4-c3fda9204cf1 g.chr16:2158547G>A uc002cos.1 - 15 6830 c.6621C>T c.(6619-6621)CCC>CCT p.P2207P PKD1_uc002cot.1_Silent_p.P2207P NM_001009944 NP_001009944 P98161 PKD1_HUMAN polycystin 1 isoform 1 precursor 2207 Extracellular (Potential).|REJ. calcium-independent cell-matrix adhesion|homophilic cell adhesion|neuropeptide signaling pathway basolateral plasma membrane|integral to plasma membrane protein domain specific binding|sugar binding central_nervous_system(2)|skin(1) 3 CGTCCACGCCGGGCAGGGCCA 0.697 NA 4 11 0 0 0 0 MVP 9961 broad.mit.edu 37 16 29851704 29851704 + Missense_Mutation SNP A A G TCGA-CV-7423-01A-11D-2078-08 TCGA-CV-7423-10A-01D-2078-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq a99653e0-2751-4423-93f7-abcf258c9868 4c6dc4b7-913a-4c75-9af4-c3fda9204cf1 g.chr16:29851704A>G uc002dui.2 + 8 1199 c.1115A>G c.(1114-1116)GAG>GGG p.E372G uc002dtf.2_Intron|BOLA2_uc010bzb.1_Intron|MVP_uc010vdz.1_RNA|MVP_uc002duj.2_Missense_Mutation_p.E372G|MVP_uc010vea.1_5'UTR NM_005115 NP_005106 Q14764 MVP_HUMAN major vault protein 372 MVP 7. mRNA transport|protein transport|response to drug|transmembrane transport cytoplasm|nuclear pore|ribonucleoprotein complex protein binding skin(2)|ovary(1)|central_nervous_system(1) 4 GCCAAAGTGGAGGTGGTGGAG 0.612 NA 2 8 0 0 0 0 ZNF423 23090 broad.mit.edu 37 16 49672378 49672378 + Missense_Mutation SNP G G A TCGA-CV-7423-01A-11D-2078-08 TCGA-CV-7423-10A-01D-2078-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq a99653e0-2751-4423-93f7-abcf258c9868 4c6dc4b7-913a-4c75-9af4-c3fda9204cf1 g.chr16:49672378G>A uc002efs.2 - 5 983 c.685C>T c.(685-687)CGC>TGC p.R229C ZNF423_uc010vgn.1_Missense_Mutation_p.R112C NM_015069 NP_055884 Q2M1K9 ZN423_HUMAN zinc finger protein 423 229 C2H2-type 5. cell differentiation|negative regulation of transcription, DNA-dependent|nervous system development|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus zinc ion binding ovary(1)|lung(1)|kidney(1)|pancreas(1) 4 all_cancers(37;0.0155) GAGAAGCCGCGCTTGCACACA 0.597 NA 6 46 0 0 0 0 ZNF516 9658 broad.mit.edu 37 18 74154962 74154962 + Missense_Mutation SNP G G A TCGA-CV-7423-01A-11D-2078-08 TCGA-CV-7423-10A-01D-2078-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq a99653e0-2751-4423-93f7-abcf258c9868 4c6dc4b7-913a-4c75-9af4-c3fda9204cf1 g.chr18:74154962G>A uc010dqx.1 - 2 284 c.49C>T c.(49-51)CCC>TCC p.P17S ZNF516_uc002lme.2_RNA NM_014643 NP_055458 Q92618 ZN516_HUMAN zinc finger protein 516 17 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding ovary(1) 1 Prostate(75;0.0869)|Esophageal squamous(42;0.129) OV - Ovarian serous cystadenocarcinoma(15;7.64e-06)|BRCA - Breast invasive adenocarcinoma(31;0.238) GCCCTGGTGGGGCTGGGGCCT 0.692 NA 7 4 0 0 0 0 CNN1 1264 broad.mit.edu 37 19 11651894 11651894 + Missense_Mutation SNP G G A TCGA-CV-7423-01A-11D-2078-08 TCGA-CV-7423-10A-01D-2078-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq a99653e0-2751-4423-93f7-abcf258c9868 4c6dc4b7-913a-4c75-9af4-c3fda9204cf1 g.chr19:11651894G>A uc002msc.1 + 2 231 c.67G>A c.(67-69)GCC>ACC p.A23T CNN1_uc010xmb.1_5'UTR|CNN1_uc010xmc.1_5'UTR NM_001299 NP_001290 P51911 CNN1_HUMAN calponin 1, basic, smooth muscle 23 actomyosin structure organization|regulation of smooth muscle contraction cytoskeleton actin binding|calmodulin binding 0 GCCCCAGCTGGCCCAGAAGTA 0.632 NA 3 14 0 0 0 0 MAST1 22983 broad.mit.edu 37 19 12951871 12951871 + Missense_Mutation SNP C C T TCGA-CV-7423-01A-11D-2078-08 TCGA-CV-7423-10A-01D-2078-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq a99653e0-2751-4423-93f7-abcf258c9868 4c6dc4b7-913a-4c75-9af4-c3fda9204cf1 g.chr19:12951871C>T uc002mvm.2 + 3 367 c.239C>T c.(238-240)TCC>TTC p.S80F MAST1_uc002mvk.2_Missense_Mutation_p.S76F|MAST1_uc002mvl.2_Missense_Mutation_p.S80F NM_014975 NP_055790 Q9Y2H9 MAST1_HUMAN microtubule associated serine/threonine kinase 80 cytoskeleton organization|intracellular protein kinase cascade cytoplasm|cytoskeleton|plasma membrane ATP binding|magnesium ion binding|protein serine/threonine kinase activity ovary(3)|lung(2)|large_intestine(1)|skin(1) 7 TCGTTTGCCTCCTCCCGAAGG 0.627 NA 4 38 0 0 0 0 EMR3 84658 broad.mit.edu 37 19 14752358 14752358 + Missense_Mutation SNP G G T rs146538980 by1000genomes TCGA-CV-7423-01A-11D-2078-08 TCGA-CV-7423-10A-01D-2078-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq a99653e0-2751-4423-93f7-abcf258c9868 4c6dc4b7-913a-4c75-9af4-c3fda9204cf1 g.chr19:14752358G>T uc002mzi.3 - 10 1269 c.1121C>A c.(1120-1122)GCG>GAG p.A374E EMR3_uc010dzp.2_Missense_Mutation_p.A322E|EMR3_uc010xnv.1_Missense_Mutation_p.A248E NM_032571 NP_115960 Q9BY15 EMR3_HUMAN egf-like module-containing mucin-like receptor 374 Helical; Name=1; (Potential). neuropeptide signaling pathway extracellular space|integral to membrane|plasma membrane calcium ion binding|G-protein coupled receptor activity ovary(5)|skin(1) 6 AGTGAGGGCCGCCAGGAGGAG 0.582 NA 8 37 2.18e-05 2.41e-05 1 0 HAUS8 93323 broad.mit.edu 37 19 17163638 17163638 + Missense_Mutation SNP C C T TCGA-CV-7423-01A-11D-2078-08 TCGA-CV-7423-10A-01D-2078-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq a99653e0-2751-4423-93f7-abcf258c9868 4c6dc4b7-913a-4c75-9af4-c3fda9204cf1 g.chr19:17163638C>T uc002nfe.2 - 10 1037 c.926G>A c.(925-927)CGA>CAA p.R309Q HAUS8_uc002nff.2_Missense_Mutation_p.R308Q|HAUS8_uc002nfg.1_Missense_Mutation_p.R248Q|HAUS8_uc002nfh.1_Missense_Mutation_p.R309Q NM_033417 NP_219485 Q9BT25 HAUS8_HUMAN sarcoma antigen NY-SAR-48 isoform a 309 cell division|centrosome organization|mitosis|spindle assembly centrosome|HAUS complex|microtubule|spindle pole 0 GAGGTACCTTCGGAGCTCAAG 0.527 NA OREG0025339 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 14 80 0 0 0 0 SFRS16 11129 broad.mit.edu 37 19 45555410 45555410 + Missense_Mutation SNP G G C TCGA-CV-7423-01A-11D-2078-08 TCGA-CV-7423-10A-01D-2078-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq a99653e0-2751-4423-93f7-abcf258c9868 4c6dc4b7-913a-4c75-9af4-c3fda9204cf1 g.chr19:45555410G>C uc002pak.2 + 3 279 c.181G>C c.(181-183)GAG>CAG p.E61Q SFRS16_uc002pal.2_RNA|SFRS16_uc010xxh.1_Intron|SFRS16_uc002pam.2_Missense_Mutation_p.E61Q|SFRS16_uc002pan.1_RNA NM_007056 NP_008987 Q8N2M8 CLASR_HUMAN splicing factor, arginine/serine-rich 16 61 mRNA processing|RNA splicing nucleus 0 Ovarian(192;0.0728)|all_neural(266;0.112) OV - Ovarian serous cystadenocarcinoma(262;0.0102) CCTGGCCGCTGAGAGCCCTGT 0.562 NA 4 49 0 0 0 0 GPR4 2828 broad.mit.edu 37 19 46094975 46094975 + Silent SNP G G A TCGA-CV-7423-01A-11D-2078-08 TCGA-CV-7423-10A-01D-2078-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq a99653e0-2751-4423-93f7-abcf258c9868 4c6dc4b7-913a-4c75-9af4-c3fda9204cf1 g.chr19:46094975G>A uc002pcm.2 - 2 1095 c.150C>T c.(148-150)AAC>AAT p.N50N OPA3_uc010xxk.1_Intron NM_005282 NP_005273 P46093 GPR4_HUMAN G protein-coupled receptor 4 50 Cytoplasmic (Potential). integral to plasma membrane G-protein coupled receptor activity ovary(2) 2 OV - Ovarian serous cystadenocarcinoma(262;0.0071)|GBM - Glioblastoma multiforme(486;0.128)|Epithelial(262;0.223) CGCCCAGCTCGTTGCGCTGTT 0.617 NA 18 46 0 0 0 0 LILRA1 11024 broad.mit.edu 37 19 55106360 55106360 + Missense_Mutation SNP G G A TCGA-CV-7423-01A-11D-2078-08 TCGA-CV-7423-10A-01D-2078-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq a99653e0-2751-4423-93f7-abcf258c9868 4c6dc4b7-913a-4c75-9af4-c3fda9204cf1 g.chr19:55106360G>A uc002qgh.1 + 4 483 c.301G>A c.(301-303)GGT>AGT p.G101S LILRA2_uc010yfg.1_Intron|LILRA1_uc010yfh.1_Missense_Mutation_p.G101S NM_006863 NP_006854 O75019 LIRA1_HUMAN leukocyte immunoglobulin-like receptor, 101 Ig-like C2-type 1.|Extracellular (Potential). cell surface receptor linked signaling pathway|defense response|regulation of immune response integral to membrane|plasma membrane antigen binding|transmembrane receptor activity skin(2)|ovary(1) 3 GBM - Glioblastoma multiforme(193;0.0348) CTGTTTCTACGGTAGCCACAC 0.607 NA 11 52 0 0 0 0 TTC27 55622 broad.mit.edu 37 2 33012122 33012122 + Missense_Mutation SNP A A G TCGA-CV-7423-01A-11D-2078-08 TCGA-CV-7423-10A-01D-2078-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq a99653e0-2751-4423-93f7-abcf258c9868 4c6dc4b7-913a-4c75-9af4-c3fda9204cf1 g.chr2:33012122A>G uc002rom.2 + 16 2135 c.1904A>G c.(1903-1905)TAC>TGC p.Y635C TTC27_uc010ymx.1_Missense_Mutation_p.Y585C|TTC27_uc002ron.2_RNA NM_017735 NP_060205 Q6P3X3 TTC27_HUMAN tetratricopeptide repeat domain 27 635 TPR 6.|HAT 2. protein binding central_nervous_system(1) 1 TGGGAAAACTACATCCTCACC 0.393 NA 11 50 0 0 0 0 NRXN1 9378 broad.mit.edu 37 2 50280443 50280443 + Missense_Mutation SNP C C T TCGA-CV-7423-01A-11D-2078-08 TCGA-CV-7423-10A-01D-2078-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq a99653e0-2751-4423-93f7-abcf258c9868 4c6dc4b7-913a-4c75-9af4-c3fda9204cf1 g.chr2:50280443C>T uc010fbp.2 - 4 1706 c.899G>A c.(898-900)AGA>AAA p.R300K NRXN1_uc002rxb.3_Missense_Mutation_p.R1037K|NRXN1_uc010fbq.2_Missense_Mutation_p.R1405K|NRXN1_uc002rxe.3_Missense_Mutation_p.R1335K NM_138735 NP_620072 P58400 NRX1B_HUMAN neurexin 1 isoform beta precursor 300 Extracellular (Potential). angiogenesis|neuron cell-cell adhesion|neuronal signal transduction cell surface|endocytic vesicle|integral to membrane|presynaptic membrane cell adhesion molecule binding|receptor binding ovary(2) 2 all_hematologic(82;0.152)|Acute lymphoblastic leukemia(82;0.192) Lung(47;0.0813)|LUSC - Lung squamous cell carcinoma(58;0.116) GGGCTTTCCTCTTCTGGCTGT 0.453 NA 4 100 0 0 0 0 CTNNA2 1496 broad.mit.edu 37 2 80646578 80646578 + Missense_Mutation SNP G G A TCGA-CV-7423-01A-11D-2078-08 TCGA-CV-7423-10A-01D-2078-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq a99653e0-2751-4423-93f7-abcf258c9868 4c6dc4b7-913a-4c75-9af4-c3fda9204cf1 g.chr2:80646578G>A uc010ysh.1 + 8 1147 c.1142G>A c.(1141-1143)CGG>CAG p.R381Q CTNNA2_uc010yse.1_Missense_Mutation_p.R381Q|CTNNA2_uc010ysf.1_Missense_Mutation_p.R381Q|CTNNA2_uc010ysg.1_Missense_Mutation_p.R381Q|CTNNA2_uc010ysi.1_Missense_Mutation_p.R13Q NM_004389 NP_004380 P26232 CTNA2_HUMAN catenin, alpha 2 isoform 1 381 axonogenesis|brain morphogenesis|cell-cell adhesion|dendrite morphogenesis|muscle cell differentiation|positive regulation of muscle cell differentiation|prepulse inhibition|radial glia guided migration of Purkinje cell|regulation of synapse structural plasticity actin cytoskeleton|axon|cytosol cadherin binding|structural constituent of cytoskeleton pancreas(4)|lung(3)|breast(1)|skin(1) 9 CTGTAGCTTCGGAAAGCAGTG 0.358 NA 8 51 0 0 0 0 PSD4 23550 broad.mit.edu 37 2 113942946 113942946 + Missense_Mutation SNP C C T TCGA-CV-7423-01A-11D-2078-08 TCGA-CV-7423-10A-01D-2078-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq a99653e0-2751-4423-93f7-abcf258c9868 4c6dc4b7-913a-4c75-9af4-c3fda9204cf1 g.chr2:113942946C>T uc002tjc.2 + 4 1361 c.1178C>T c.(1177-1179)TCT>TTT p.S393F PSD4_uc002tjd.2_5'UTR|PSD4_uc002tje.2_Missense_Mutation_p.S392F|PSD4_uc002tjf.2_5'UTR NM_012455 NP_036587 Q8NDX1 PSD4_HUMAN pleckstrin and Sec7 domain containing 4 393 regulation of ARF protein signal transduction cytoplasm|plasma membrane ARF guanyl-nucleotide exchange factor activity ovary(2) 2 CAACAGGCCTCTCTCAGCCCT 0.413 NA 21 90 0 0 0 0 SCN2A 6326 broad.mit.edu 37 2 166152455 166152455 + Missense_Mutation SNP G G A TCGA-CV-7423-01A-11D-2078-08 TCGA-CV-7423-10A-01D-2078-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq a99653e0-2751-4423-93f7-abcf258c9868 4c6dc4b7-913a-4c75-9af4-c3fda9204cf1 g.chr2:166152455G>A uc002udc.2 + 2 412 c.122G>A c.(121-123)CGC>CAC p.R41H SCN2A_uc002udd.2_Missense_Mutation_p.R41H|SCN2A_uc002ude.2_Missense_Mutation_p.R41H NM_001040142 NP_001035232 Q99250 SCN2A_HUMAN sodium channel, voltage-gated, type II, alpha 41 myelination node of Ranvier|voltage-gated sodium channel complex voltage-gated sodium channel activity ovary(6)|breast(1)|pancreas(1) 8 Lamotrigine(DB00555) AAACAGGAACGCAAGGATGAG 0.473 NA 9 19 0 0 0 0 TTN 7273 broad.mit.edu 37 2 179451387 179451387 + Missense_Mutation SNP C C T TCGA-CV-7423-01A-11D-2078-08 TCGA-CV-7423-10A-01D-2078-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq a99653e0-2751-4423-93f7-abcf258c9868 4c6dc4b7-913a-4c75-9af4-c3fda9204cf1 g.chr2:179451387C>T uc010zfg.1 - 257 56761 c.56537G>A c.(56536-56538)CGC>CAC p.R18846H uc002umo.2_Intron|uc002ump.1_Intron|TTN_uc010zfh.1_Missense_Mutation_p.R12541H|TTN_uc010zfi.1_Missense_Mutation_p.R12474H|TTN_uc010zfj.1_Missense_Mutation_p.R12349H NM_133378 NP_596869 Q8WZ42 TITIN_HUMAN titin isoform N2-A 19773 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) CTCTGTCCAGCGATCTGCAGG 0.468 NA 26 73 0 0 0 0 TTN 7273 broad.mit.edu 37 2 179606565 179606565 + Missense_Mutation SNP C C T TCGA-CV-7423-01A-11D-2078-08 TCGA-CV-7423-10A-01D-2078-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq a99653e0-2751-4423-93f7-abcf258c9868 4c6dc4b7-913a-4c75-9af4-c3fda9204cf1 g.chr2:179606565C>T uc010zfh.1 - 46 11106 c.10882G>A c.(10882-10884)GAA>AAA p.E3628K TTN_uc010zfg.1_Intron|TTN_uc010zfi.1_Missense_Mutation_p.E3561K|TTN_uc010zfj.1_Missense_Mutation_p.E3436K|TTN_uc002umz.1_Intron NM_133437 NP_597681 Q8WZ42 TITIN_HUMAN titin isoform novex-2 3613 ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity p.E3436K(1) 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) GACAAAAGTTCAAGTGTTTCA 0.373 NA 4 12 0 0 0 0 ISM1 140862 broad.mit.edu 37 20 13279972 13279972 + Silent SNP C C T TCGA-CV-7423-01A-11D-2078-08 TCGA-CV-7423-10A-01D-2078-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq a99653e0-2751-4423-93f7-abcf258c9868 4c6dc4b7-913a-4c75-9af4-c3fda9204cf1 g.chr20:13279972C>T uc010gce.1 + 6 1267 c.1261C>T c.(1261-1263)CTG>TTG p.L421L TASP1_uc010zri.1_Intron NM_080826 NP_543016 B1AKI9 ISM1_HUMAN isthmin 1 homolog precursor 421 AMOP. extracellular region 0 GGTGGACGTCCTGCCCTGGAT 0.622 NA 5 21 0 0 0 0 PCK1 5105 broad.mit.edu 37 20 56137828 56137828 + Silent SNP G G A TCGA-CV-7423-01A-11D-2078-08 TCGA-CV-7423-10A-01D-2078-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq a99653e0-2751-4423-93f7-abcf258c9868 4c6dc4b7-913a-4c75-9af4-c3fda9204cf1 g.chr20:56137828G>A uc002xyn.3 + 4 646 c.483G>A c.(481-483)ACG>ACA p.T161T PCK1_uc010zzm.1_Intron NM_002591 NP_002582 P35558 PCKGC_HUMAN cytosolic phosphoenolpyruvate carboxykinase 1 161 gluconeogenesis|glucose homeostasis|glycerol biosynthetic process from pyruvate|response to insulin stimulus cytosol|nucleus carboxylic acid binding|GTP binding|magnesium ion binding|manganese ion binding|phosphoenolpyruvate carboxykinase (GTP) activity skin(1) 1 Lung NSC(12;0.000764)|all_lung(29;0.00264)|Melanoma(10;0.242) BRCA - Breast invasive adenocarcinoma(13;9.88e-12)|Epithelial(14;3.41e-08)|all cancers(14;2.13e-07) TCGAGCTGACGGATTCACCCT 0.612 NA 4 46 0 0 0 0 PRIC285 85441 broad.mit.edu 37 20 62192986 62192986 + Silent SNP G G A TCGA-CV-7423-01A-11D-2078-08 TCGA-CV-7423-10A-01D-2078-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq a99653e0-2751-4423-93f7-abcf258c9868 4c6dc4b7-913a-4c75-9af4-c3fda9204cf1 g.chr20:62192986G>A uc002yfm.2 - 13 7696 c.6804C>T c.(6802-6804)AGC>AGT p.S2268S PRIC285_uc002yfl.1_Silent_p.S1699S NM_001037335 NP_001032412 Q9BYK8 PR285_HUMAN PPAR-alpha interacting complex protein 285 2268 cellular lipid metabolic process|regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleoplasm ATP binding|DNA binding|helicase activity|ribonuclease activity|RNA binding|transcription coactivator activity|zinc ion binding central_nervous_system(2) 2 all_cancers(38;2.51e-11)|all_epithelial(29;8.27e-13) Epithelial(9;1.27e-08)|all cancers(9;7.32e-08)|BRCA - Breast invasive adenocarcinoma(10;5.15e-06) CCTCCCGGGGGCTCTTCCTGA 0.657 NA 42 62 0 0 0 0 CECR5 27440 broad.mit.edu 37 22 17619607 17619607 + Silent SNP C C A TCGA-CV-7423-01A-11D-2078-08 TCGA-CV-7423-10A-01D-2078-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq a99653e0-2751-4423-93f7-abcf258c9868 4c6dc4b7-913a-4c75-9af4-c3fda9204cf1 g.chr22:17619607C>A uc002zmf.2 - 7 796 c.768G>T c.(766-768)CTG>CTT p.L256L CECR5_uc002zmd.2_Silent_p.L67L|CECR5_uc002zme.2_Silent_p.L48L|CECR5_uc002zmg.2_Intron|CECR5_uc002zmh.2_Silent_p.L226L NM_033070 NP_149061 Q9BXW7 CECR5_HUMAN cat eye syndrome chromosome region, candidate 5 256 hydrolase activity 0 all_epithelial(15;0.0181)|Lung NSC(13;0.109)|all_lung(157;0.132) CCAGGCACAGCAGAAAGGTGC 0.537 NA 13 121 9.31e-06 1.04e-05 1 0 PISD 23761 broad.mit.edu 37 22 32017676 32017676 + Silent SNP G G A TCGA-CV-7423-01A-11D-2078-08 TCGA-CV-7423-10A-01D-2078-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq a99653e0-2751-4423-93f7-abcf258c9868 4c6dc4b7-913a-4c75-9af4-c3fda9204cf1 g.chr22:32017676G>A uc003alm.3 - 4 524 c.517C>T c.(517-519)CTG>TTG p.L173L PISD_uc003alk.2_Silent_p.L139L|PISD_uc003all.2_Silent_p.L138L|PISD_uc011alr.1_Silent_p.L138L|PISD_uc003aln.3_Silent_p.L173L NM_014338 NP_055153 Q9UG56 PISD_HUMAN phosphatidylserine decarboxylase 173 phospholipid biosynthetic process mitochondrion phosphatidylserine decarboxylase activity central_nervous_system(2)|ovary(1) 3 Phosphatidylserine(DB00144) TGCGGCTTCAGCTTGCGCCGG 0.602 NA 5 29 0 0 0 0 KCNJ4 3761 broad.mit.edu 37 22 38823814 38823814 + Silent SNP C C T TCGA-CV-7423-01A-11D-2078-08 TCGA-CV-7423-10A-01D-2078-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq a99653e0-2751-4423-93f7-abcf258c9868 4c6dc4b7-913a-4c75-9af4-c3fda9204cf1 g.chr22:38823814C>T uc003avs.1 - 2 421 c.324G>A c.(322-324)CCG>CCA p.P108P KCNJ4_uc003avt.1_Silent_p.P108P NM_004981 NP_004972 P48050 IRK4_HUMAN potassium inwardly-rectifying channel J4 108 Val/Gly/Ala/Pro stretch.|Extracellular (By similarity). synaptic transmission basolateral plasma membrane|voltage-gated potassium channel complex inward rectifier potassium channel activity|PDZ domain binding 0 Melanoma(58;0.0286) TGGGGGCCACCGGGGCTGCTC 0.577 NA 15 23 0 0 0 0 ZC3H7B 23264 broad.mit.edu 37 22 41752804 41752804 + Silent SNP C C G TCGA-CV-7423-01A-11D-2078-08 TCGA-CV-7423-10A-01D-2078-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq a99653e0-2751-4423-93f7-abcf258c9868 4c6dc4b7-913a-4c75-9af4-c3fda9204cf1 g.chr22:41752804C>G uc003azw.2 + 22 2889 c.2673C>G c.(2671-2673)CTC>CTG p.L891L ZC3H7B_uc010gyl.1_Intron NM_017590 NP_060060 Q9UGR2 Z3H7B_HUMAN zinc finger CCCH-type containing 7B 907 C3H1-type 4. interspecies interaction between organisms nucleus nucleic acid binding|protein binding|zinc ion binding central_nervous_system(1) 1 AGTTCCGGCTCTGCGACAGGT 0.667 NA 7 39 0 0 0 0 FBLN1 2192 broad.mit.edu 37 22 45929029 45929029 + Missense_Mutation SNP G G C TCGA-CV-7423-01A-11D-2078-08 TCGA-CV-7423-10A-01D-2078-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq a99653e0-2751-4423-93f7-abcf258c9868 4c6dc4b7-913a-4c75-9af4-c3fda9204cf1 g.chr22:45929029G>C uc003bgj.1 + 6 778 c.631G>C c.(631-633)GGT>CGT p.G211R FBLN1_uc003bgg.1_Missense_Mutation_p.G211R|FBLN1_uc003bgh.2_Missense_Mutation_p.G211R|FBLN1_uc010gzz.2_Missense_Mutation_p.G249R|FBLN1_uc003bgi.1_Missense_Mutation_p.G211R NM_006486 NP_006477 P23142 FBLN1_HUMAN fibulin 1 isoform D 211 EGF-like 1. interspecies interaction between organisms extracellular space|soluble fraction calcium ion binding|extracellular matrix structural constituent|protein binding ovary(1)|central_nervous_system(1) 2 Ovarian(80;0.00965)|all_neural(38;0.0416) UCEC - Uterine corpus endometrioid carcinoma (28;0.0182) GCTGTCTGATGGTGTCTCCTG 0.637 NA 8 35 0 0 0 0 DPPA4 55211 broad.mit.edu 37 3 109049479 109049479 + Missense_Mutation SNP T T G TCGA-CV-7423-01A-11D-2078-08 TCGA-CV-7423-10A-01D-2078-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq a99653e0-2751-4423-93f7-abcf258c9868 4c6dc4b7-913a-4c75-9af4-c3fda9204cf1 g.chr3:109049479T>G uc003dxq.3 - 5 626 c.571A>C c.(571-573)ACA>CCA p.T191P DPPA4_uc011bho.1_Intron|DPPA4_uc011bhp.1_Missense_Mutation_p.T191P NM_018189 NP_060659 Q7L190 DPPA4_HUMAN developmental pluripotency associated 4 191 nucleus protein binding upper_aerodigestive_tract(1) 1 ACCACAACTGTATTAACTCCC 0.562 NA 43 35 0 0 0 0 GRAMD1C 54762 broad.mit.edu 37 3 113563487 113563487 + Missense_Mutation SNP G G C TCGA-CV-7423-01A-11D-2078-08 TCGA-CV-7423-10A-01D-2078-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq a99653e0-2751-4423-93f7-abcf258c9868 4c6dc4b7-913a-4c75-9af4-c3fda9204cf1 g.chr3:113563487G>C uc003eaq.3 + 2 241 c.165G>C c.(163-165)TGG>TGC p.W55C GRAMD1C_uc011bil.1_RNA|GRAMD1C_uc011bim.1_RNA NM_017577 NP_060047 Q8IYS0 GRM1C_HUMAN GRAM domain containing 1C 55 integral to membrane ovary(2)|skin(1) 3 GTGGTGACTGGAGCTTTTGGG 0.318 NA 11 68 0 0 0 0 SI 6476 broad.mit.edu 37 3 164725717 164725717 + Missense_Mutation SNP A A G TCGA-CV-7423-01A-11D-2078-08 TCGA-CV-7423-10A-01D-2078-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq a99653e0-2751-4423-93f7-abcf258c9868 4c6dc4b7-913a-4c75-9af4-c3fda9204cf1 g.chr3:164725717A>G uc003fei.2 - 36 4311 c.4249T>C c.(4249-4251)TAT>CAT p.Y1417H NM_001041 NP_001032 P14410 SUIS_HUMAN sucrase-isomaltase 1417 Sucrase.|Lumenal. carbohydrate metabolic process|polysaccharide digestion apical plasma membrane|brush border|Golgi apparatus|integral to membrane carbohydrate binding|oligo-1,6-glucosidase activity|sucrose alpha-glucosidase activity ovary(7)|upper_aerodigestive_tract(4)|skin(2)|pancreas(1) 14 Prostate(884;0.00314)|Melanoma(1037;0.0153)|all_neural(597;0.0199) Acarbose(DB00284) TAAGGTGGATAATTTAGTTCG 0.239 NA HNSCC(35;0.089) 8 75 0 0 0 0 TRA2B 6434 broad.mit.edu 37 3 185644425 185644425 + Missense_Mutation SNP C C T TCGA-CV-7423-01A-11D-2078-08 TCGA-CV-7423-10A-01D-2078-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq a99653e0-2751-4423-93f7-abcf258c9868 4c6dc4b7-913a-4c75-9af4-c3fda9204cf1 g.chr3:185644425C>T uc003fpv.2 - 2 410 c.134G>A c.(133-135)CGT>CAT p.R45H TRA2B_uc003fpt.2_5'Flank|TRA2B_uc003fpu.2_RNA|TRA2B_uc010hym.2_Intron|TRA2B_uc003fpw.2_Missense_Mutation_p.R45H NM_004593 NP_004584 P62995 TRA2B_HUMAN splicing factor, arginine/serine-rich 10 45 Arg/Ser-rich (RS1 domain). nuclear mRNA splicing, via spliceosome nucleus nucleotide binding|protein binding|RNA binding ovary(2) 2 TGATCTGGAACGCCTGGAATC 0.488 NA 28 61 0 0 0 0 ATP8A1 10396 broad.mit.edu 37 4 42551058 42551058 + Missense_Mutation SNP C C T TCGA-CV-7423-01A-11D-2078-08 TCGA-CV-7423-10A-01D-2078-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq a99653e0-2751-4423-93f7-abcf258c9868 4c6dc4b7-913a-4c75-9af4-c3fda9204cf1 g.chr4:42551058C>T uc003gwr.2 - 19 1856 c.1624G>A c.(1624-1626)GAA>AAA p.E542K ATP8A1_uc003gws.2_Missense_Mutation_p.E527K|ATP8A1_uc011byz.1_Missense_Mutation_p.E527K NM_006095 NP_006086 Q9Y2Q0 AT8A1_HUMAN ATPase, aminophospholipid transporter (APLT), 542 Cytoplasmic (Potential). ATP biosynthetic process chromaffin granule membrane|integral to membrane|plasma membrane aminophospholipid transporter activity|ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|cation-transporting ATPase activity|magnesium ion binding|phospholipid-translocating ATPase activity skin(2)|central_nervous_system(1) 3 Phosphatidylserine(DB00144) TTGAGCAATTCATATCTTTCT 0.308 NA 9 40 0 0 0 0 C5orf35 133383 broad.mit.edu 37 5 56207180 56207180 + Missense_Mutation SNP C C A TCGA-CV-7423-01A-11D-2078-08 TCGA-CV-7423-10A-01D-2078-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq a99653e0-2751-4423-93f7-abcf258c9868 4c6dc4b7-913a-4c75-9af4-c3fda9204cf1 g.chr5:56207180C>A uc003jqx.2 + 2 656 c.283C>A c.(283-285)CAA>AAA p.Q95K C5orf35_uc003jqy.2_Intron NM_153706 NP_714917 Q8NE22 CE035_HUMAN hypothetical protein LOC133383 95 ovary(1) 1 Lung NSC(810;0.000861)|Prostate(74;0.0305)|Breast(144;0.173) OV - Ovarian serous cystadenocarcinoma(10;2.58e-39) AGTTGAACATCAAGGGGTGAA 0.363 NA 22 20 3.1e-05 3.42e-05 1 0 MAP1B 4131 broad.mit.edu 37 5 71491407 71491407 + Missense_Mutation SNP C C T TCGA-CV-7423-01A-11D-2078-08 TCGA-CV-7423-10A-01D-2078-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq a99653e0-2751-4423-93f7-abcf258c9868 4c6dc4b7-913a-4c75-9af4-c3fda9204cf1 g.chr5:71491407C>T uc003kbw.3 + 5 2466 c.2225C>T c.(2224-2226)TCA>TTA p.S742L MAP1B_uc010iyw.1_Missense_Mutation_p.S759L|MAP1B_uc010iyx.1_Missense_Mutation_p.S616L|MAP1B_uc010iyy.1_Missense_Mutation_p.S616L NM_005909 NP_005900 P46821 MAP1B_HUMAN microtubule-associated protein 1B 742 Lys-rich (highly basic, contains many KKEE and KKEI/V repeats). 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) GCAAAGAAATCATCTACTCCT 0.269 NA 8 77 0 0 0 0 ERAP1 51752 broad.mit.edu 37 5 96121595 96121595 + Missense_Mutation SNP C C T TCGA-CV-7423-01A-11D-2078-08 TCGA-CV-7423-10A-01D-2078-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq a99653e0-2751-4423-93f7-abcf258c9868 4c6dc4b7-913a-4c75-9af4-c3fda9204cf1 g.chr5:96121595C>T uc003kmm.2 - 13 2187 c.1840G>A c.(1840-1842)GAT>AAT p.D614N ERAP1_uc003kml.2_Missense_Mutation_p.D614N|ERAP1_uc010jbm.1_Missense_Mutation_p.D426N|ERAP1_uc003kmn.2_Missense_Mutation_p.D614N NM_001040458 NP_001035548 Q9NZ08 ERAP1_HUMAN type 1 tumor necrosis factor receptor shedding 614 Lumenal (Potential). angiogenesis|antigen processing and presentation of endogenous peptide antigen via MHC class I|fat cell differentiation|membrane protein ectodomain proteolysis|regulation of blood pressure|regulation of innate immune response|response to bacterium cytosol|endoplasmic reticulum lumen|endoplasmic reticulum membrane|extracellular region|integral to membrane aminopeptidase activity|interleukin-1, Type II receptor binding|interleukin-6 receptor binding|metalloexopeptidase activity|zinc ion binding ovary(1)|pancreas(1) 2 all_cancers(142;1.75e-06)|all_epithelial(76;3.08e-09)|all_lung(232;0.000435)|Lung NSC(167;0.000601)|Ovarian(225;0.024)|Colorectal(57;0.0432)|Breast(839;0.244) all cancers(79;7.26e-15)|COAD - Colon adenocarcinoma(37;0.071) CATCCATCATCCTCGTAATGC 0.413 NA 4 49 0 0 0 0 TRIM36 55521 broad.mit.edu 37 5 114499269 114499269 + Missense_Mutation SNP G G C TCGA-CV-7423-01A-11D-2078-08 TCGA-CV-7423-10A-01D-2078-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq a99653e0-2751-4423-93f7-abcf258c9868 4c6dc4b7-913a-4c75-9af4-c3fda9204cf1 g.chr5:114499269G>C uc003kqs.2 - 2 753 c.244C>G c.(244-246)CGA>GGA p.R82G TRIM36_uc011cwc.1_Missense_Mutation_p.R70G|TRIM36_uc003kqt.2_Intron NM_018700 NP_061170 Q9NQ86 TRI36_HUMAN tripartite motif-containing 36 isoform 1 82 RING-type; degenerate. acrosomal vesicle|cytoskeleton ligase activity|zinc ion binding ovary(4)|lung(2)|breast(2) 8 all_cancers(142;0.00133)|all_epithelial(76;2.41e-05)|Prostate(80;0.00955)|Ovarian(225;0.0443)|Breast(839;0.195) OV - Ovarian serous cystadenocarcinoma(64;3.62e-08)|Epithelial(69;7.69e-08)|all cancers(49;9.33e-06) AGCCGAAGTCGAGGACTGCTT 0.453 NA 5 49 0 0 0 0 PCDHA7 56141 broad.mit.edu 37 5 140215474 140215474 + Silent SNP C C T TCGA-CV-7423-01A-11D-2078-08 TCGA-CV-7423-10A-01D-2078-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq a99653e0-2751-4423-93f7-abcf258c9868 4c6dc4b7-913a-4c75-9af4-c3fda9204cf1 g.chr5:140215474C>T uc003lhq.2 + 1 1506 c.1506C>T c.(1504-1506)CGC>CGT p.R502R PCDHA1_uc003lha.2_Intron|PCDHA1_uc003lhb.2_Intron|PCDHA2_uc003lhd.2_Intron|PCDHA3_uc003lhf.2_Intron|PCDHA4_uc003lhi.2_Intron|PCDHA4_uc003lhh.1_Intron|PCDHA5_uc003lhk.1_Intron|PCDHA5_uc003lhl.2_Intron|PCDHA6_uc003lhn.2_Intron|PCDHA6_uc003lho.2_Intron|PCDHA7_uc011dac.1_Silent_p.R502R NM_018910 NP_061733 Q9UN72 PCDA7_HUMAN protocadherin alpha 7 isoform 1 precursor 502 Cadherin 5.|Extracellular (Potential). homophilic cell adhesion|nervous system development integral to plasma membrane calcium ion binding|protein binding p.R502H(1) ovary(2)|skin(2) 4 KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191) TGGGCGAGCGCGCGCTGTCGA 0.677 NA 13 79 0 0 0 0 PCDHA10 56139 broad.mit.edu 37 5 140237249 140237249 + Missense_Mutation SNP G G C TCGA-CV-7423-01A-11D-2078-08 TCGA-CV-7423-10A-01D-2078-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq a99653e0-2751-4423-93f7-abcf258c9868 4c6dc4b7-913a-4c75-9af4-c3fda9204cf1 g.chr5:140237249G>C uc003lhx.2 + 1 1616 c.1616G>C c.(1615-1617)GGG>GCG p.G539A PCDHA1_uc003lha.2_Intron|PCDHA1_uc003lhb.2_Intron|PCDHA2_uc003lhd.2_Intron|PCDHA3_uc003lhf.2_Intron|PCDHA4_uc003lhi.2_Intron|PCDHA4_uc003lhh.1_Intron|PCDHA5_uc003lhk.1_Intron|PCDHA5_uc003lhl.2_Intron|PCDHA6_uc003lhn.2_Intron|PCDHA6_uc003lho.2_Intron|PCDHA7_uc003lhq.2_Intron|PCDHA8_uc003lhs.2_Intron|PCDHA9_uc003lhu.2_Intron|PCDHA10_uc003lhw.2_Intron|PCDHA10_uc011dad.1_Missense_Mutation_p.G539A NM_018901 NP_061724 Q9Y5I2 PCDAA_HUMAN protocadherin alpha 10 isoform 1 precursor 539 Cadherin 5.|Extracellular (Potential). homophilic cell adhesion|nervous system development extracellular region|integral to plasma membrane calcium ion binding|protein binding ovary(2)|skin(2)|breast(1) 5 KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191) GCGCGCGATGGGGGCGTGCCG 0.687 NA 5 82 0 0 0 0 SLC34A1 6569 broad.mit.edu 37 5 176824887 176824887 + Missense_Mutation SNP G G A TCGA-CV-7423-01A-11D-2078-08 TCGA-CV-7423-10A-01D-2078-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq a99653e0-2751-4423-93f7-abcf258c9868 4c6dc4b7-913a-4c75-9af4-c3fda9204cf1 g.chr5:176824887G>A uc003mgk.3 + 13 1621 c.1520G>A c.(1519-1521)CGC>CAC p.R507H NM_003052 NP_003043 Q06495 NPT2A_HUMAN solute carrier family 34 (sodium phosphate), 507 Cytoplasmic (Potential). phosphate ion homeostasis|response to cadmium ion|response to lead ion|response to mercury ion|sodium ion transport brush border membrane|integral to plasma membrane protein binding|sodium-dependent phosphate transmembrane transporter activity|symporter activity ovary(1) 1 all_cancers(89;2.04e-05)|Renal(175;0.000269)|Lung NSC(126;0.000832)|all_lung(126;0.00152) all_neural(177;0.00409)|Medulloblastoma(196;0.00498)|all_hematologic(541;0.21) Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178) CTGGGGAAACGCACGGCCAAG 0.607 NA 16 63 0 0 0 0 CSNK2B 1460 broad.mit.edu 37 6 31635648 31635648 + Missense_Mutation SNP G G C TCGA-CV-7423-01A-11D-2078-08 TCGA-CV-7423-10A-01D-2078-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq a99653e0-2751-4423-93f7-abcf258c9868 4c6dc4b7-913a-4c75-9af4-c3fda9204cf1 g.chr6:31635648G>C uc003nvr.1 + 3 416 c.76G>C c.(76-78)GAT>CAT p.D26H BAT4_uc003nvn.2_5'Flank|BAT4_uc003nvo.3_5'Flank|BAT4_uc003nvp.3_5'Flank|BAT4_uc003nvq.2_5'Flank|CSNK2B_uc010jta.1_Missense_Mutation_p.D26H|CSNK2B_uc003nvs.1_Missense_Mutation_p.D26H NM_001320 NP_001311 P67870 CSK2B_HUMAN casein kinase 2, beta polypeptide 26 adiponectin-mediated signaling pathway|axon guidance|cellular protein complex assembly|negative regulation of cell proliferation|regulation of DNA binding|Wnt receptor signaling pathway cytosol|nucleus|protein kinase CK2 complex identical protein binding|protein domain specific binding|protein kinase regulator activity|receptor binding|transcription factor binding 0 CTGACAGGTGGATGAAGACTA 0.458 NA 13 20 0 0 0 0 GLO1 2739 broad.mit.edu 37 6 38670758 38670758 + Missense_Mutation SNP G G A TCGA-CV-7423-01A-11D-2078-08 TCGA-CV-7423-10A-01D-2078-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq a99653e0-2751-4423-93f7-abcf258c9868 4c6dc4b7-913a-4c75-9af4-c3fda9204cf1 g.chr6:38670758G>A uc003ooc.2 - 1 195 c.73C>T c.(73-75)CCC>TCC p.P25S NM_006708 NP_006699 Q04760 LGUL_HUMAN glyoxalase I 25 anti-apoptosis|carbohydrate metabolic process cytoplasm lactoylglutathione lyase activity|metal ion binding ovary(1) 1 Glutathione(DB00143) TTGGTACTGGGGTCCGCGTCG 0.711 NA 3 23 0 0 0 0 DNAH8 1769 broad.mit.edu 37 6 38704881 38704881 + Silent SNP C C G TCGA-CV-7423-01A-11D-2078-08 TCGA-CV-7423-10A-01D-2078-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq a99653e0-2751-4423-93f7-abcf258c9868 4c6dc4b7-913a-4c75-9af4-c3fda9204cf1 g.chr6:38704881C>G uc003ooe.1 + 4 750 c.150C>G c.(148-150)CTC>CTG p.L50L NM_001371 NP_001362 dynein, axonemal, heavy polypeptide 8 skin(8)|ovary(7)|lung(2)|large_intestine(1)|central_nervous_system(1)|kidney(1)|pancreas(1) 21 CGAAAGGACTCTTAAATGGAA 0.398 NA 5 83 0 0 0 0 SLC17A5 26503 broad.mit.edu 37 6 74331548 74331548 + Silent SNP G G A rs147732875 TCGA-CV-7423-01A-11D-2078-08 TCGA-CV-7423-10A-01D-2078-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq a99653e0-2751-4423-93f7-abcf258c9868 4c6dc4b7-913a-4c75-9af4-c3fda9204cf1 g.chr6:74331548G>A uc003phn.3 - 7 1085 c.957C>T c.(955-957)ATC>ATT p.I319I SLC17A5_uc010kax.2_Intron|SLC17A5_uc010kay.2_RNA|SLC17A5_uc011dyo.1_Silent_p.I188I NM_012434 NP_036566 Q9NRA2 S17A5_HUMAN sialin 319 anion transport integral to plasma membrane|lysosomal membrane|membrane fraction sialic acid:hydrogen symporter activity skin(5)|central_nervous_system(1) 6 TGAACCTTAGGATCTCCTTCA 0.313 NA 9 21 0 0 0 0 C6orf174 387104 broad.mit.edu 37 6 127796911 127796911 + Missense_Mutation SNP C C T TCGA-CV-7423-01A-11D-2078-08 TCGA-CV-7423-10A-01D-2078-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq a99653e0-2751-4423-93f7-abcf258c9868 4c6dc4b7-913a-4c75-9af4-c3fda9204cf1 g.chr6:127796911C>T uc003qbd.2 - 6 3125 c.2260G>A c.(2260-2262)GAG>AAG p.E754K C6orf174_uc003qbc.2_5'Flank NM_001012279 NP_001012279 Q5TF21 CF174_HUMAN hypothetical protein LOC387104 precursor 754 integral to membrane breast(3)|ovary(2)|skin(1) 6 GBM - Glioblastoma multiforme(226;0.026)|all cancers(137;0.161) GCGTCGCTCTCGGCGTCGCTG 0.701 NA 11 83 0 0 0 0 C6orf97 80129 broad.mit.edu 37 6 151857487 151857487 + Missense_Mutation SNP C C T TCGA-CV-7423-01A-11D-2078-08 TCGA-CV-7423-10A-01D-2078-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq a99653e0-2751-4423-93f7-abcf258c9868 4c6dc4b7-913a-4c75-9af4-c3fda9204cf1 g.chr6:151857487C>T uc003qol.2 + 2 181 c.92C>T c.(91-93)ACG>ATG p.T31M NM_025059 NP_079335 Q8IYT3 CF097_HUMAN hypothetical protein LOC80129 31 Potential. 0 Ovarian(120;0.126) BRCA - Breast invasive adenocarcinoma(37;0.111) OV - Ovarian serous cystadenocarcinoma(155;1.48e-10) GTCCCGGTCACGCGGGAGCAG 0.433 NA 5 57 0 0 0 0 ELN 2006 broad.mit.edu 37 7 73474265 73474265 + Silent SNP T T A TCGA-CV-7423-01A-11D-2078-08 TCGA-CV-7423-10A-01D-2078-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq a99653e0-2751-4423-93f7-abcf258c9868 4c6dc4b7-913a-4c75-9af4-c3fda9204cf1 g.chr7:73474265T>A uc003tzw.2 + 23 1573 c.1482T>A c.(1480-1482)GGT>GGA p.G494G RFC2_uc011kfa.1_Intron|ELN_uc003tzn.2_Silent_p.G488G|ELN_uc003tzz.2_Silent_p.G407G|ELN_uc003tzo.2_Silent_p.G455G|ELN_uc003tzp.2_Silent_p.G399G|ELN_uc003tzq.2_Silent_p.G352G|ELN_uc003tzr.2_Intron|ELN_uc003tzs.2_Silent_p.G469G|ELN_uc003tzt.2_Silent_p.G493G|ELN_uc003tzu.2_Silent_p.G474G|ELN_uc003tzv.2_Silent_p.G459G|ELN_uc003tzx.2_Silent_p.G478G|ELN_uc011kff.1_Silent_p.G488G|ELN_uc003tzy.2_Silent_p.G464G NM_000501 NP_001075224 P15502 ELN_HUMAN elastin isoform a precursor 517 Ala-rich. blood circulation|cell proliferation|organ morphogenesis|respiratory gaseous exchange proteinaceous extracellular matrix extracellular matrix constituent conferring elasticity|protein binding ovary(3)|pancreas(2) 5 Lung NSC(55;0.159) Rofecoxib(DB00533) TGGCTCCTGGTGTCGGTGTGG 0.567 NA T PAX5 B-ALL Supravalvular Aortic Stenosis|Cutis laxa |Williams-Beuren Syndrome 9 174 0 0 0 0 ELN 2006 broad.mit.edu 37 7 73474268 73474268 + Silent SNP C C T TCGA-CV-7423-01A-11D-2078-08 TCGA-CV-7423-10A-01D-2078-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq a99653e0-2751-4423-93f7-abcf258c9868 4c6dc4b7-913a-4c75-9af4-c3fda9204cf1 g.chr7:73474268C>T uc003tzw.2 + 23 1576 c.1485C>T c.(1483-1485)GTC>GTT p.V495V RFC2_uc011kfa.1_Intron|ELN_uc003tzn.2_Silent_p.V489V|ELN_uc003tzz.2_Silent_p.V408V|ELN_uc003tzo.2_Silent_p.V456V|ELN_uc003tzp.2_Silent_p.V400V|ELN_uc003tzq.2_Silent_p.V353V|ELN_uc003tzr.2_Intron|ELN_uc003tzs.2_Silent_p.V470V|ELN_uc003tzt.2_Silent_p.V494V|ELN_uc003tzu.2_Silent_p.V475V|ELN_uc003tzv.2_Silent_p.V460V|ELN_uc003tzx.2_Silent_p.V479V|ELN_uc011kff.1_Silent_p.V489V|ELN_uc003tzy.2_Silent_p.V465V NM_000501 NP_001075224 P15502 ELN_HUMAN elastin isoform a precursor 518 Ala-rich. blood circulation|cell proliferation|organ morphogenesis|respiratory gaseous exchange proteinaceous extracellular matrix extracellular matrix constituent conferring elasticity|protein binding ovary(3)|pancreas(2) 5 Lung NSC(55;0.159) Rofecoxib(DB00533) CTCCTGGTGTCGGTGTGGCTC 0.577 NA T PAX5 B-ALL Supravalvular Aortic Stenosis|Cutis laxa |Williams-Beuren Syndrome 15 174 0 0 0 0 ELN 2006 broad.mit.edu 37 7 73474271 73474271 + Silent SNP T T C TCGA-CV-7423-01A-11D-2078-08 TCGA-CV-7423-10A-01D-2078-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq a99653e0-2751-4423-93f7-abcf258c9868 4c6dc4b7-913a-4c75-9af4-c3fda9204cf1 g.chr7:73474271T>C uc003tzw.2 + 23 1579 c.1488T>C c.(1486-1488)GGT>GGC p.G496G RFC2_uc011kfa.1_Intron|ELN_uc003tzn.2_Silent_p.G490G|ELN_uc003tzz.2_Silent_p.G409G|ELN_uc003tzo.2_Silent_p.G457G|ELN_uc003tzp.2_Silent_p.G401G|ELN_uc003tzq.2_Silent_p.G354G|ELN_uc003tzr.2_Intron|ELN_uc003tzs.2_Silent_p.G471G|ELN_uc003tzt.2_Silent_p.G495G|ELN_uc003tzu.2_Silent_p.G476G|ELN_uc003tzv.2_Silent_p.G461G|ELN_uc003tzx.2_Silent_p.G480G|ELN_uc011kff.1_Silent_p.G490G|ELN_uc003tzy.2_Silent_p.G466G NM_000501 NP_001075224 P15502 ELN_HUMAN elastin isoform a precursor 519 Ala-rich. blood circulation|cell proliferation|organ morphogenesis|respiratory gaseous exchange proteinaceous extracellular matrix extracellular matrix constituent conferring elasticity|protein binding ovary(3)|pancreas(2) 5 Lung NSC(55;0.159) Rofecoxib(DB00533) CTGGTGTCGGTGTGGCTCCTG 0.587 NA T PAX5 B-ALL Supravalvular Aortic Stenosis|Cutis laxa |Williams-Beuren Syndrome 15 173 0 0 0 0 ACTL6B 51412 broad.mit.edu 37 7 100246281 100246281 + Silent SNP G G A TCGA-CV-7423-01A-11D-2078-08 TCGA-CV-7423-10A-01D-2078-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq a99653e0-2751-4423-93f7-abcf258c9868 4c6dc4b7-913a-4c75-9af4-c3fda9204cf1 g.chr7:100246281G>A uc003uvy.2 - 7 674 c.567C>T c.(565-567)ATC>ATT p.I189I ACTL6B_uc003uvx.1_5'UTR|ACTL6B_uc003uvz.2_RNA NM_016188 NP_057272 O94805 ACL6B_HUMAN actin-like 6B 189 chromatin modification|nervous system development|regulation of transcription, DNA-dependent|transcription, DNA-dependent nBAF complex|SWI/SNF complex ATP binding|protein binding|structural constituent of cytoskeleton ovary(1) 1 Lung NSC(181;0.035)|all_lung(186;0.0509)|Esophageal squamous(72;0.0817) GGGACTTGACGATGCCTAGAA 0.597 NA 9 13 0 0 0 0 MUC17 140453 broad.mit.edu 37 7 100678877 100678877 + Nonsense_Mutation SNP G G T TCGA-CV-7423-01A-11D-2078-08 TCGA-CV-7423-10A-01D-2078-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq a99653e0-2751-4423-93f7-abcf258c9868 4c6dc4b7-913a-4c75-9af4-c3fda9204cf1 g.chr7:100678877G>T uc003uxp.1 + 3 4233 c.4180G>T c.(4180-4182)GGA>TGA p.G1394* MUC17_uc010lho.1_RNA NM_001040105 NP_001035194 Q685J3 MUC17_HUMAN mucin 17 precursor 1394 Extracellular (Potential).|59 X approximate tandem repeats.|21.|Ser-rich. extracellular region|integral to membrane|plasma membrane extracellular matrix constituent, lubricant activity ovary(14)|skin(8)|breast(3)|lung(2) 27 Lung NSC(181;0.136)|all_lung(186;0.182) TCCTAGTGAAGGAACCACTCC 0.507 NA 91 272 4.22e-46 4.93e-46 1 0 IMMP2L 83943 broad.mit.edu 37 7 110303748 110303748 + Silent SNP G G A TCGA-CV-7423-01A-11D-2078-08 TCGA-CV-7423-10A-01D-2078-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq a99653e0-2751-4423-93f7-abcf258c9868 4c6dc4b7-913a-4c75-9af4-c3fda9204cf1 g.chr7:110303748G>A uc003vfq.1 - 6 881 c.438C>T c.(436-438)GCC>GCT p.A146A IMMP2L_uc010ljr.1_Silent_p.A146A NM_032549 NP_115938 Q96T52 IMP2L_HUMAN IMP2 inner mitochondrial membrane protease-like 146 protein processing involved in protein targeting to mitochondrion|proteolysis integral to membrane|mitochondrial inner membrane peptidase complex|nucleus serine-type peptidase activity 0 UCEC - Uterine corpus endometrioid carcinoma (4;0.053)|Epithelial(3;2.27e-07)|all cancers(3;1.36e-05)|STAD - Stomach adenocarcinoma(3;0.00148)|KIRC - Kidney renal clear cell carcinoma(11;0.0339)|Lung(3;0.0375)|Kidney(11;0.0415)|LUSC - Lung squamous cell carcinoma(290;0.173) GGATATGTGTGGCATGGGCAT 0.418 NA 6 48 0 0 0 0 FBXO43 286151 broad.mit.edu 37 8 101149817 101149817 + Silent SNP G G A TCGA-CV-7423-01A-11D-2078-08 TCGA-CV-7423-10A-01D-2078-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq a99653e0-2751-4423-93f7-abcf258c9868 4c6dc4b7-913a-4c75-9af4-c3fda9204cf1 g.chr8:101149817G>A uc003yjd.2 - 3 2363 c.1650C>T c.(1648-1650)ATC>ATT p.I550I FBXO43_uc003yje.2_Silent_p.I516I|FBXO43_uc010mbp.1_Silent_p.I550I NM_001029860 NP_001025031 Q4G163 FBX43_HUMAN F-box protein 43 isoform b 550 meiosis zinc ion binding kidney(1)|skin(1) 2 all_cancers(14;0.000139)|all_epithelial(15;2.84e-07)|Lung NSC(17;0.000274)|all_lung(17;0.000798) Epithelial(11;1.17e-09)|all cancers(13;1.34e-07)|OV - Ovarian serous cystadenocarcinoma(57;3.82e-05)|STAD - Stomach adenocarcinoma(118;0.0957) TCAGTTGTGTGATATAAAATT 0.303 NA 17 20 0 0 0 0 UBR5 51366 broad.mit.edu 37 8 103309160 103309160 + Missense_Mutation SNP G G A TCGA-CV-7423-01A-11D-2078-08 TCGA-CV-7423-10A-01D-2078-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq a99653e0-2751-4423-93f7-abcf258c9868 4c6dc4b7-913a-4c75-9af4-c3fda9204cf1 g.chr8:103309160G>A uc003ykr.1 - 28 3659 c.3626C>T c.(3625-3627)ACG>ATG p.T1209M UBR5_uc003yks.1_Missense_Mutation_p.T1209M NM_015902 NP_056986 O95071 UBR5_HUMAN ubiquitin protein ligase E3 component n-recognin 1209 UBR-type. cell proliferation|positive regulation of canonical Wnt receptor signaling pathway|positive regulation of catenin import into nucleus|positive regulation of protein import into nucleus, translocation|progesterone receptor signaling pathway|protein polyubiquitination|protein ubiquitination involved in ubiquitin-dependent protein catabolic process|response to DNA damage stimulus nucleus|soluble fraction protein binding|RNA binding|ubiquitin-ubiquitin ligase activity|zinc ion binding lung(16)|ovary(4)|large_intestine(3)|breast(2)|upper_aerodigestive_tract(1)|central_nervous_system(1)|kidney(1) 28 all_cancers(14;8e-07)|all_epithelial(15;2.18e-08)|Lung NSC(17;2.55e-05)|all_lung(17;8.85e-05) OV - Ovarian serous cystadenocarcinoma(57;0.000442) TGCACATTCCGTACAACAACA 0.318 NA 4 33 0 0 0 0 ZFAT 57623 broad.mit.edu 37 8 135620985 135620985 + Missense_Mutation SNP T T C TCGA-CV-7423-01A-11D-2078-08 TCGA-CV-7423-10A-01D-2078-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq a99653e0-2751-4423-93f7-abcf258c9868 4c6dc4b7-913a-4c75-9af4-c3fda9204cf1 g.chr8:135620985T>C uc003yup.2 - 5 947 c.772A>G c.(772-774)ATG>GTG p.M258V ZFAT_uc003yun.2_Missense_Mutation_p.M246V|ZFAT_uc003yuo.2_Missense_Mutation_p.M246V|ZFAT_uc010meh.2_Missense_Mutation_p.M246V|ZFAT_uc010mei.2_RNA|ZFAT_uc003yuq.2_Missense_Mutation_p.M246V|ZFAT_uc010mej.2_Missense_Mutation_p.M196V|ZFAT_uc003yur.2_Missense_Mutation_p.M246V NM_020863 NP_065914 Q9P243 ZFAT_HUMAN zinc finger protein 406 isoform ZFAT-1 258 regulation of transcription, DNA-dependent|transcription, DNA-dependent cytosol|nucleus DNA binding|zinc ion binding central_nervous_system(1) 1 all_epithelial(106;8.26e-19)|Lung NSC(106;3.47e-07)|all_lung(105;1.39e-06)|Ovarian(258;0.0102)|Acute lymphoblastic leukemia(118;0.155) BRCA - Breast invasive adenocarcinoma(115;0.0432) CTTGACTTCATTGGTTGCTCA 0.483 NA 52 42 0 0 0 0 ZC3H3 23144 broad.mit.edu 37 8 144589967 144589967 + Missense_Mutation SNP G G C TCGA-CV-7423-01A-11D-2078-08 TCGA-CV-7423-10A-01D-2078-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq a99653e0-2751-4423-93f7-abcf258c9868 4c6dc4b7-913a-4c75-9af4-c3fda9204cf1 g.chr8:144589967G>C uc003yyd.2 - 4 1693 c.1664C>G c.(1663-1665)CCC>CGC p.P555R NM_015117 NP_055932 Q8IXZ2 ZC3H3_HUMAN zinc finger CCCH-type containing 3 555 mRNA polyadenylation|poly(A)+ mRNA export from nucleus|regulation of mRNA export from nucleus nucleus nucleic acid binding|zinc ion binding skin(1) 1 all_cancers(97;8.64e-11)|all_epithelial(106;6.43e-09)|Lung NSC(106;0.000202)|all_lung(105;0.000548)|Ovarian(258;0.0212)|Acute lymphoblastic leukemia(118;0.155) Colorectal(110;0.107)|BRCA - Breast invasive adenocarcinoma(115;0.107) CAGGGGGAAGGGCGGGGCGCT 0.667 NA 32 45 0 0 0 0 ACO1 48 broad.mit.edu 37 9 32423392 32423392 + Missense_Mutation SNP C C T TCGA-CV-7423-01A-11D-2078-08 TCGA-CV-7423-10A-01D-2078-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq a99653e0-2751-4423-93f7-abcf258c9868 4c6dc4b7-913a-4c75-9af4-c3fda9204cf1 g.chr9:32423392C>T uc003zqw.3 + 9 1201 c.1046C>T c.(1045-1047)CCT>CTT p.P349L ACO1_uc010mjh.1_Missense_Mutation_p.P183L|ACO1_uc003zqx.3_Missense_Mutation_p.P349L|ACO1_uc003zqy.3_RNA NM_002197 NP_002188 P21399 ACOC_HUMAN aconitase 1 349 citrate metabolic process|response to iron(II) ion|tricarboxylic acid cycle cytosol|endoplasmic reticulum|Golgi apparatus 4 iron, 4 sulfur cluster binding|aconitate hydratase activity|citrate hydro-lyase (cis-aconitate-forming) activity|iron-responsive element binding|isocitrate hydro-lyase (cis-aconitate-forming) activity|metal ion binding|protein binding 0 LUSC - Lung squamous cell carcinoma(29;0.00813) GBM - Glioblastoma multiforme(74;3.94e-06) TTCAATGACCCTTCTCAAGAC 0.398 NA 6 43 0 0 0 0 C9orf170 401535 broad.mit.edu 37 9 89771559 89771559 + Silent SNP T T C TCGA-CV-7423-01A-11D-2078-08 TCGA-CV-7423-10A-01D-2078-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq a99653e0-2751-4423-93f7-abcf258c9868 4c6dc4b7-913a-4c75-9af4-c3fda9204cf1 g.chr9:89771559T>C uc004apa.1 + 2 327 c.240T>C c.(238-240)TCT>TCC p.S80S NM_001001709 NP_001001709 A2RU37 CI170_HUMAN hypothetical protein LOC401535 80 0 ggagaaagtctgatttaggag 0.124 NA 4 20 0 0 0 0 PALM2-AKAP2 445815 broad.mit.edu 37 9 112900135 112900135 + Missense_Mutation SNP G G A rs142423891 TCGA-CV-7423-01A-11D-2078-08 TCGA-CV-7423-10A-01D-2078-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq a99653e0-2751-4423-93f7-abcf258c9868 4c6dc4b7-913a-4c75-9af4-c3fda9204cf1 g.chr9:112900135G>A uc004bei.2 + 9 3199 c.3007G>A c.(3007-3009)GTC>ATC p.V1003I PALM2-AKAP2_uc004bek.3_Missense_Mutation_p.V771I|PALM2-AKAP2_uc004bej.3_Missense_Mutation_p.V771I|PALM2-AKAP2_uc004bel.1_Missense_Mutation_p.V581I|AKAP2_uc011lwi.1_Missense_Mutation_p.V629I|AKAP2_uc004bem.2_Missense_Mutation_p.V629I|PALM2-AKAP2_uc010mtw.1_Missense_Mutation_p.V589I|AKAP2_uc011lwj.1_Missense_Mutation_p.V540I|PALM2-AKAP2_uc004ben.2_Missense_Mutation_p.V540I NM_001136562 NP_001130034 Q9Y2D5 AKAP2_HUMAN A kinase (PRKA) anchor protein 2 isoform 2 540 enzyme binding ovary(3)|central_nervous_system(2)|skin(1) 6 AGGAGAAGGCGTCTCCAAGTC 0.532 NA 5 46 0 0 0 0 RBBP7 5931 broad.mit.edu 37 X 16887232 16887232 + Missense_Mutation SNP C C A TCGA-CV-7423-01A-11D-2078-08 TCGA-CV-7423-10A-01D-2078-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq a99653e0-2751-4423-93f7-abcf258c9868 4c6dc4b7-913a-4c75-9af4-c3fda9204cf1 g.chrX:16887232C>A uc004cxt.2 - 2 486 c.128G>T c.(127-129)AGT>ATT p.S43I RBBP7_uc004cxs.1_Missense_Mutation_p.S87I|RBBP7_uc004cxu.2_Missense_Mutation_p.S43I NM_002893 NP_002884 Q16576 RBBP7_HUMAN retinoblastoma binding protein 7 43 cell proliferation|cellular heat acclimation|CenH3-containing nucleosome assembly at centromere|DNA replication|multicellular organismal development|negative regulation of cell growth|regulation of transcription, DNA-dependent|transcription, DNA-dependent ESC/E(Z) complex|NuRD complex protein binding upper_aerodigestive_tract(1)|ovary(1) 2 Hepatocellular(33;0.0997) AACGGTAAGACTGGGCCACTG 0.403 NA 8 28 1.13e-05 1.25e-05 1 0 RBBP7 5931 broad.mit.edu 37 X 16887237 16887237 + Missense_Mutation SNP C C G TCGA-CV-7423-01A-11D-2078-08 TCGA-CV-7423-10A-01D-2078-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq a99653e0-2751-4423-93f7-abcf258c9868 4c6dc4b7-913a-4c75-9af4-c3fda9204cf1 g.chrX:16887237C>G uc004cxt.2 - 2 481 c.123G>C c.(121-123)TGG>TGC p.W41C RBBP7_uc004cxs.1_Missense_Mutation_p.W85C|RBBP7_uc004cxu.2_Missense_Mutation_p.W41C NM_002893 NP_002884 Q16576 RBBP7_HUMAN retinoblastoma binding protein 7 41 cell proliferation|cellular heat acclimation|CenH3-containing nucleosome assembly at centromere|DNA replication|multicellular organismal development|negative regulation of cell growth|regulation of transcription, DNA-dependent|transcription, DNA-dependent ESC/E(Z) complex|NuRD complex protein binding upper_aerodigestive_tract(1)|ovary(1) 2 Hepatocellular(33;0.0997) TAAGACTGGGCCACTGAAGAG 0.393 NA 10 27 0 0 0 0 DGKK 139189 broad.mit.edu 37 X 50119144 50119144 + Missense_Mutation SNP A A T TCGA-CV-7423-01A-11D-2078-08 TCGA-CV-7423-10A-01D-2078-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq a99653e0-2751-4423-93f7-abcf258c9868 4c6dc4b7-913a-4c75-9af4-c3fda9204cf1 g.chrX:50119144A>T uc010njr.1 - 25 3353 c.3293T>A c.(3292-3294)ATC>AAC p.I1098N NM_001013742 NP_001013764 Q5KSL6 DGKK_HUMAN diacylglycerol kinase kappa 1098 activation of protein kinase C activity by G-protein coupled receptor protein signaling pathway|diacylglycerol metabolic process|intracellular signal transduction|platelet activation|response to oxidative stress cytoplasm|plasma membrane ATP binding|diacylglycerol kinase activity|metal ion binding ovary(1)|kidney(1) 2 Ovarian(276;0.236) ATGCTGGTGGATCTTGCTCAG 0.478 NA 6 4 0 0 0 0 KLHL4 56062 broad.mit.edu 37 X 86877396 86877396 + Nonsense_Mutation SNP C C A TCGA-CV-7423-01A-11D-2078-08 TCGA-CV-7423-10A-01D-2078-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq a99653e0-2751-4423-93f7-abcf258c9868 4c6dc4b7-913a-4c75-9af4-c3fda9204cf1 g.chrX:86877396C>A uc004efb.2 + 5 1292 c.1110C>A c.(1108-1110)TAC>TAA p.Y370* KLHL4_uc004efa.2_Nonsense_Mutation_p.Y370* NM_019117 NP_061990 Q9C0H6 KLHL4_HUMAN kelch-like 4 isoform 1 370 cytoplasm|microtubule cytoskeleton|nucleolus actin binding ovary(2)|lung(1)|breast(1)|central_nervous_system(1) 5 TGCTTTCTTACATCAGACTGC 0.413 NA 10 34 0.00010058 0.000108858 1 0 HCRTR1 3061 broad.mit.edu 37 1 32084929 32084931 + In_Frame_Del DEL GAG GAG - TCGA-CV-7423-01A-11D-2078-08 TCGA-CV-7423-10A-01D-2078-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq a99653e0-2751-4423-93f7-abcf258c9868 4c6dc4b7-913a-4c75-9af4-c3fda9204cf1 g.chr1:32084929_32084931delGAG uc009vtx.2 + 3 521_523 c.136_138delGAG c.(136-138)GAGdel p.E46del HCRTR1_uc001btb.2_Intron|HCRTR1_uc001btc.3_In_Frame_Del_p.19_20MS>I|HCRTR1_uc001btd.2_In_Frame_Del_p.E46del|HCRTR1_uc010ogl.1_In_Frame_Del_p.E46del NM_001525 NP_001516 O43613 OX1R_HUMAN orexin receptor 1 46 Extracellular (Potential). feeding behavior|neuropeptide signaling pathway|synaptic transmission integral to plasma membrane ovary(1) 1 Ovarian(437;0.0221)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0837)|Breast(348;0.116) STAD - Stomach adenocarcinoma(196;0.053) AAAACAGTATGAGTGGGTCCTCA 0.606 NA 27 110 --- --- --- --- NA NA NA NA PAMR1 25891 broad.mit.edu 37 11 35513669 35513670 + Frame_Shift_Ins INS - - C TCGA-CV-7423-01A-11D-2078-08 TCGA-CV-7423-10A-01D-2078-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq a99653e0-2751-4423-93f7-abcf258c9868 4c6dc4b7-913a-4c75-9af4-c3fda9204cf1 g.chr11:35513669_35513670insC uc001mwg.2 - 3 345_346 c.302_303insG c.(301-303)GGTfs p.G101fs PAMR1_uc001mwf.2_Frame_Shift_Ins_p.G101fs|PAMR1_uc010rew.1_Frame_Shift_Ins_p.G101fs|PAMR1_uc010rex.1_Frame_Shift_Ins_p.G61fs NM_001001991 NP_001001991 Q6UXH9 PAMR1_HUMAN regeneration associated muscle protease isoform 101 proteolysis extracellular region serine-type endopeptidase activity ovary(2) 2 CATCCAAGGTACCCCCCCATGA 0.52 NA 27 606 --- --- --- --- NA NA NA NA KRTAP4-9 100132386 broad.mit.edu 37 17 39261988 39261988 + Frame_Shift_Del DEL C C - TCGA-CV-7423-01A-11D-2078-08 TCGA-CV-7423-10A-01D-2078-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq a99653e0-2751-4423-93f7-abcf258c9868 4c6dc4b7-913a-4c75-9af4-c3fda9204cf1 g.chr17:39261988delC uc010wfp.1 + 1 348 c.348delC c.(346-348)CACfs p.H116fs NM_001146041 NP_001139513 Q9BYQ8 KRA49_HUMAN keratin associated protein 4-9 116 29 X 5 AA repeats of C-C-[RQVHIEK]- [SPTR]-[VSTQCRNP].|18. keratin filament 0 CCTGCTGCCACCCTAGGtgct 0.353 NA 8 12 --- --- --- --- NA NA NA NA ProSAPiP1 9762 broad.mit.edu 37 20 3146179 3146179 + Frame_Shift_Del DEL G G - TCGA-CV-7423-01A-11D-2078-08 TCGA-CV-7423-10A-01D-2078-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq a99653e0-2751-4423-93f7-abcf258c9868 4c6dc4b7-913a-4c75-9af4-c3fda9204cf1 g.chr20:3146179delG uc002wia.1 - 2 2685 c.1287delC c.(1285-1287)GCCfs p.A429fs ProSAPiP1_uc002wib.1_Frame_Shift_Del_p.A383fs NM_014731 NP_055546 O60299 PRIP1_HUMAN ProSAPiP1 protein 429 Potential. cell junction|cytoplasm|postsynaptic density|postsynaptic membrane pancreas(1) 1 GCAGGAAGTCGGCCTGCTCCT 0.662 NA 20 31 --- --- --- --- NA NA NA NA CNTN6 27255 broad.mit.edu 37 3 1424634 1424636 + In_Frame_Del DEL AGA AGA - TCGA-CV-7423-01A-11D-2078-08 TCGA-CV-7423-10A-01D-2078-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq a99653e0-2751-4423-93f7-abcf258c9868 4c6dc4b7-913a-4c75-9af4-c3fda9204cf1 g.chr3:1424634_1424636delAGA uc003boz.2 + 18 2442_2444 c.2175_2177delAGA c.(2173-2178)CCAGAA>CCA p.E727del CNTN6_uc011asj.1_In_Frame_Del_p.E655del|CNTN6_uc003bpa.2_In_Frame_Del_p.E727del NM_014461 NP_055276 Q9UQ52 CNTN6_HUMAN contactin 6 precursor 727 Fibronectin type-III 2. axon guidance|cell adhesion|central nervous system development|Notch signaling pathway anchored to membrane|plasma membrane skin(3)|lung(2)|breast(2)|pancreas(1) 8 all_cancers(2;0.000164)|all_epithelial(2;0.107) Epithelial(13;0.000233)|all cancers(10;0.0013)|OV - Ovarian serous cystadenocarcinoma(96;0.0139) AGTCAATTCCAGAAGAACTGCAG 0.384 NA 12 29 --- --- --- --- NA NA NA NA ZMIZ2 83637 broad.mit.edu 37 7 44805118 44805119 + Frame_Shift_Ins INS - - C TCGA-CV-7423-01A-11D-2078-08 TCGA-CV-7423-10A-01D-2078-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq a99653e0-2751-4423-93f7-abcf258c9868 4c6dc4b7-913a-4c75-9af4-c3fda9204cf1 g.chr7:44805118_44805119insC uc003tlr.2 + 16 2305_2306 c.2182_2183insC c.(2182-2184)GCCfs p.A728fs ZMIZ2_uc003tlq.2_Frame_Shift_Ins_p.A670fs|ZMIZ2_uc003tls.2_Frame_Shift_Ins_p.A702fs|ZMIZ2_uc003tlt.2_Frame_Shift_Ins_p.A351fs|ZMIZ2_uc010kyj.2_Frame_Shift_Ins_p.A250fs|ZMIZ2_uc003tlu.2_5'Flank NM_031449 NP_113637 Q8NF64 ZMIZ2_HUMAN zinc finger, MIZ-type containing 2 isoform 1 728 Pro-rich. positive regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent nuclear replication fork ligand-dependent nuclear receptor transcription coactivator activity|protein binding|zinc ion binding ovary(2)|large_intestine(2)|breast(1) 5 CCCCGGCGCTGCCCCCTTTGCC 0.698 NA 3 6 --- --- --- --- NA NA NA NA DOCK8 81704 broad.mit.edu 37 9 446516 446517 + Frame_Shift_Ins INS - - CA TCGA-CV-7423-01A-11D-2078-08 TCGA-CV-7423-10A-01D-2078-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq a99653e0-2751-4423-93f7-abcf258c9868 4c6dc4b7-913a-4c75-9af4-c3fda9204cf1 g.chr9:446516_446517insCA uc003zgf.2 + 44 5839_5840 c.5727_5728insCA c.(5725-5730)CTGCATfs p.L1909fs DOCK8_uc010mgu.2_Frame_Shift_Ins_p.L1211fs|DOCK8_uc010mgv.2_Frame_Shift_Ins_p.L1809fs|DOCK8_uc003zgk.2_Frame_Shift_Ins_p.L1367fs NM_203447 NP_982272 Q8NF50 DOCK8_HUMAN dedicator of cytokinesis 8 1909_1910 blood coagulation cytosol GTP binding|GTPase binding|guanyl-nucleotide exchange factor activity ovary(3)|central_nervous_system(3) 6 all_cancers(5;2.13e-17)|all_epithelial(5;2.15e-12)|all_lung(10;6.69e-11)|Lung NSC(10;1.08e-10)|Acute lymphoblastic leukemia(5;0.000242)|all_hematologic(5;0.00317)|Breast(48;0.0151)|Prostate(43;0.128) all cancers(5;9.3e-07)|GBM - Glioblastoma multiforme(5;2.41e-06)|Epithelial(6;0.00557)|Lung(218;0.00942) GGGGAGAGCTGCATGAGCAGTA 0.545 NA 12 52 --- --- --- --- NA NA NA NA FLJ46321 389763 broad.mit.edu 37 9 84606915 84606923 + In_Frame_Del DEL GCACAGCGA GCACAGCGA - TCGA-CV-7423-01A-11D-2078-08 TCGA-CV-7423-10A-01D-2078-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq a99653e0-2751-4423-93f7-abcf258c9868 4c6dc4b7-913a-4c75-9af4-c3fda9204cf1 g.chr9:84606915_84606923delGCACAGCGA uc004amn.2 + 4 1577_1585 c.1530_1538delGCACAGCGA c.(1528-1539)TTGCACAGCGAG>TTG p.HSE511del NM_001001670 NP_001001670 Q6ZQQ2 F75D1_HUMAN hypothetical protein LOC389763 511_513 integral to membrane 0 TCCCATCTTTGCACAGCGAGTCTCTGCAT 0.445 NA 8 29 --- --- --- --- NA NA NA NA