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 TMEM39B 55116 broad.mit.edu 37 1 32542834 32542834 + Missense_Mutation SNP A A G TCGA-CQ-5323-01A-01D-1683-08 TCGA-CQ-5323-10A-01D-1683-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 892067ef-c465-46ea-8f91-10636dd0081b 66698a51-908a-483f-8e89-18fca752ec64 g.chr1:32542834A>G uc010ogv.1 + 5 651 c.505A>G c.(505-507)ACG>GCG p.T169A TMEM39B_uc010ogt.1_Intron|TMEM39B_uc010ogu.1_Missense_Mutation_p.T42A|TMEM39B_uc001bue.3_Missense_Mutation_p.T169A|TMEM39B_uc001buf.3_Intron|TMEM39B_uc010ogw.1_Intron NM_018056 NP_060526 Q9GZU3 TM39B_HUMAN transmembrane protein 39B 169 Helical; (Potential). integral to membrane 0 Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0837)|Ovarian(437;0.101)|Breast(348;0.174) CACCGTTCTCACGGCAACAGG 0.597 NA 4 99 0 0 0 0 MARCKSL1 65108 broad.mit.edu 37 1 32800482 32800482 + Missense_Mutation SNP C C T TCGA-CQ-5323-01A-01D-1683-08 TCGA-CQ-5323-10A-01D-1683-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 892067ef-c465-46ea-8f91-10636dd0081b 66698a51-908a-483f-8e89-18fca752ec64 g.chr1:32800482C>T uc001bvd.2 - 2 504 c.304G>A c.(304-306)GGC>AGC p.G102S NM_023009 NP_075385 P49006 MRP_HUMAN MARCKS-like 1 102 plasma membrane calmodulin binding ovary(1) 1 Myeloproliferative disorder(586;0.0393)|all_neural(195;0.186) AAGGACAGGCCGCTCAATTTG 0.577 NA 3 54 0 0 0 0 GRIK3 2899 broad.mit.edu 37 1 37337839 37337839 + Missense_Mutation SNP G G A rs141595955 TCGA-CQ-5323-01A-01D-1683-08 TCGA-CQ-5323-10A-01D-1683-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 892067ef-c465-46ea-8f91-10636dd0081b 66698a51-908a-483f-8e89-18fca752ec64 g.chr1:37337839G>A uc001caz.2 - 4 817 c.682C>T c.(682-684)CGC>TGC p.R228C GRIK3_uc001cba.1_Missense_Mutation_p.R228C NM_000831 NP_000822 Q13003 GRIK3_HUMAN glutamate receptor, ionotropic, kainate 3 228 Extracellular (Potential). negative regulation of synaptic transmission, glutamatergic|regulation of membrane potential|synaptic transmission cell junction|dendrite cytoplasm|integral to plasma membrane|perikaryon|postsynaptic membrane|terminal button adenylate cyclase inhibiting metabotropic glutamate receptor activity|extracellular-glutamate-gated ion channel activity|G-protein-coupled receptor binding|kainate selective glutamate receptor activity ovary(3)|skin(2)|large_intestine(1)|breast(1) 7 Myeloproliferative disorder(586;0.0258)|all_neural(195;0.169) L-Glutamic Acid(DB00142) AAGATAATGCGGAATTCCCGG 0.597 NA 14 23 0 0 0 0 NBPF10 100132406 broad.mit.edu 37 1 145302714 145302714 + Silent SNP A A G rs9424867 TCGA-CQ-5323-01A-01D-1683-08 TCGA-CQ-5323-10A-01D-1683-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 892067ef-c465-46ea-8f91-10636dd0081b 66698a51-908a-483f-8e89-18fca752ec64 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 64 0 0 0 0 RD3 343035 broad.mit.edu 37 1 211652474 211652474 + Silent SNP G G A TCGA-CQ-5323-01A-01D-1683-08 TCGA-CQ-5323-10A-01D-1683-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 892067ef-c465-46ea-8f91-10636dd0081b 66698a51-908a-483f-8e89-18fca752ec64 g.chr1:211652474G>A uc001him.2 - 3 1656 c.492C>T c.(490-492)AGC>AGT p.S164S RD3_uc001hin.2_RNA|RD3_uc009xda.2_RNA NM_183059 NP_898882 Q7Z3Z2 RD3_HUMAN retinal degeneration 3 164 response to stimulus|visual perception ovary(1) 1 OV - Ovarian serous cystadenocarcinoma(81;0.00284)|all cancers(67;0.0279)|Epithelial(68;0.0689) TCCTGATGTCGCTGGCGAAGG 0.701 NA 9 13 0 0 0 0 DISC1 27185 broad.mit.edu 37 1 232162197 232162197 + Missense_Mutation SNP C C T TCGA-CQ-5323-01A-01D-1683-08 TCGA-CQ-5323-10A-01D-1683-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 892067ef-c465-46ea-8f91-10636dd0081b 66698a51-908a-483f-8e89-18fca752ec64 g.chr1:232162197C>T uc001huz.2 + 12 2377 c.2324C>T c.(2323-2325)TCT>TTT p.S775F TSNAX-DISC1_uc010pwl.1_RNA|DISC1_uc010pxh.1_Missense_Mutation_p.S807F|DISC1_uc010pxi.1_RNA|DISC1_uc010pxj.1_Missense_Mutation_p.S398F|DISC1_uc010pxk.1_RNA|DISC1_uc010pxl.1_RNA|DISC1_uc010pxm.1_Missense_Mutation_p.S653F|DISC1_uc010pxn.1_Missense_Mutation_p.S420F|DISC1_uc001hva.2_Missense_Mutation_p.S753F NM_018662 NP_061132 Q9NRI5 DISC1_HUMAN disrupted in schizophrenia 1 isoform L 775 Necessary and sufficient for interaction with PCNT and localization at the centrosome.|Interaction with ATF4 and ATF5.|Interaction with PAFAH1B1. microtubule cytoskeleton organization|neuron migration|positive regulation of neuroblast proliferation|positive regulation of Wnt receptor signaling pathway|Wnt receptor signaling pathway centrosome|microtubule protein binding skin(1) 1 all_cancers(173;0.0208)|Prostate(94;0.0975) TACATCCTTTCTGCAGAACTT 0.443 NA 4 6 0 0 0 0 PTCHD3 374308 broad.mit.edu 37 10 27687277 27687277 + Silent SNP G G A TCGA-CQ-5323-01A-01D-1683-08 TCGA-CQ-5323-10A-01D-1683-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 892067ef-c465-46ea-8f91-10636dd0081b 66698a51-908a-483f-8e89-18fca752ec64 g.chr10:27687277G>A uc001itu.2 - 4 2368 c.2250C>T c.(2248-2250)TTC>TTT p.F750F NM_001034842 NP_001030014 Q3KNS1 PTHD3_HUMAN patched domain containing 3 750 spermatid development integral to membrane hedgehog receptor activity ovary(2)|pancreas(1)|skin(1) 4 TTGTCTGAATGAAGCCCCGGG 0.318 NA 4 24 0 0 0 0 LYZL1 84569 broad.mit.edu 37 10 29581596 29581596 + Silent SNP C C T TCGA-CQ-5323-01A-01D-1683-08 TCGA-CQ-5323-10A-01D-1683-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 892067ef-c465-46ea-8f91-10636dd0081b 66698a51-908a-483f-8e89-18fca752ec64 g.chr10:29581596C>T uc001iul.2 + 3 483 c.426C>T c.(424-426)GTC>GTT p.V142V NM_032517 NP_115906 Q6UWQ5 LYZL1_HUMAN lysozyme-like 1 96 cell wall macromolecule catabolic process extracellular region lysozyme activity 0 Breast(68;0.203) ACTGCCATGTCGCCTGCTCAG 0.537 NA 15 54 0 0 0 0 TET1 80312 broad.mit.edu 37 10 70405630 70405630 + Nonsense_Mutation SNP C C A TCGA-CQ-5323-01A-01D-1683-08 TCGA-CQ-5323-10A-01D-1683-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 892067ef-c465-46ea-8f91-10636dd0081b 66698a51-908a-483f-8e89-18fca752ec64 g.chr10:70405630C>A uc001jok.3 + 4 3649 c.3144C>A c.(3142-3144)TGC>TGA p.C1048* NM_030625 NP_085128 Q8NFU7 TET1_HUMAN CXXC finger 6 1048 DNA demethylation|inner cell mass cell differentiation|negative regulation of methylation-dependent chromatin silencing|stem cell maintenance iron ion binding|methylcytosine dioxygenase activity|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|structure-specific DNA binding|zinc ion binding ovary(5)|lung(2)|prostate(1)|breast(1) 9 TGGAGTATTGCAACCAGTTAC 0.388 NA 18 80 2.94e-08 3.3e-08 1 0 FAM190B 54462 broad.mit.edu 37 10 86131078 86131078 + Silent SNP T T C TCGA-CQ-5323-01A-01D-1683-08 TCGA-CQ-5323-10A-01D-1683-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 892067ef-c465-46ea-8f91-10636dd0081b 66698a51-908a-483f-8e89-18fca752ec64 g.chr10:86131078T>C uc001kdh.1 + 2 464 c.270T>C c.(268-270)GAT>GAC p.D90D FAM190B_uc001kdg.1_Silent_p.D90D|FAM190B_uc010qmd.1_Silent_p.D90D NM_018999 NP_061872 Q9H7U1 F190B_HUMAN granule cell antiserum positive 14 90 ovary(3)|skin(1) 4 ATTCACATGATAAAATAATTG 0.328 NA 3 46 0 0 0 0 TAF5 6877 broad.mit.edu 37 10 105146990 105146990 + Missense_Mutation SNP G G T TCGA-CQ-5323-01A-01D-1683-08 TCGA-CQ-5323-10A-01D-1683-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 892067ef-c465-46ea-8f91-10636dd0081b 66698a51-908a-483f-8e89-18fca752ec64 g.chr10:105146990G>T uc001kwv.2 + 9 1911 c.1888G>T c.(1888-1890)GTG>TTG p.V630L TAF5_uc010qqq.1_Missense_Mutation_p.V575L NM_006951 NP_008882 Q15542 TAF5_HUMAN TBP-associated factor 5 630 WD 4. histone acetylation|interspecies interaction between organisms|transcription elongation from RNA polymerase II promoter|transcription initiation from RNA polymerase II promoter|viral reproduction actin cytoskeleton|transcription factor TFIID complex|transcription factor TFTC complex protein dimerization activity|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding ovary(2) 2 Colorectal(252;0.0747)|Breast(234;0.128) Epithelial(162;1.83e-09)|all cancers(201;1.4e-08)|BRCA - Breast invasive adenocarcinoma(275;0.198) TCTTGCTGATGTGAATTGTAC 0.423 NA 21 39 7.45e-12 8.54e-12 1 0 PLEKHA1 59338 broad.mit.edu 37 10 124186509 124186509 + Missense_Mutation SNP A A G TCGA-CQ-5323-01A-01D-1683-08 TCGA-CQ-5323-10A-01D-1683-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 892067ef-c465-46ea-8f91-10636dd0081b 66698a51-908a-483f-8e89-18fca752ec64 g.chr10:124186509A>G uc001lge.1 + 11 985 c.862A>G c.(862-864)ATT>GTT p.I288V PLEKHA1_uc001lgf.1_Missense_Mutation_p.I288V|PLEKHA1_uc001lgg.1_Missense_Mutation_p.I288V|PLEKHA1_uc001lgh.2_Missense_Mutation_p.I288V NM_001001974 NP_001001974 Q9HB21 PKHA1_HUMAN pleckstrin homology domain containing, family A 288 PH 2. B cell receptor signaling pathway|cellular response to hydrogen peroxide|establishment of protein localization|negative regulation of protein kinase B signaling cascade|phosphatidylinositol 3-kinase cascade|ruffle organization cytoplasm|nucleus|ruffle membrane PDZ domain binding|phosphatidylinositol-3,4-bisphosphate binding kidney(1) 1 all_neural(114;0.0765)|Lung NSC(174;0.132)|all_lung(145;0.163)|Breast(234;0.238) CTCTGGCGCCATTGTAGCACA 0.473 NA 21 43 0 0 0 0 DPYSL4 10570 broad.mit.edu 37 10 134008356 134008356 + Silent SNP C C T TCGA-CQ-5323-01A-01D-1683-08 TCGA-CQ-5323-10A-01D-1683-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 892067ef-c465-46ea-8f91-10636dd0081b 66698a51-908a-483f-8e89-18fca752ec64 g.chr10:134008356C>T uc009ybb.2 + 4 475 c.321C>T c.(319-321)CAC>CAT p.H107H NM_006426 NP_006417 O14531 DPYL4_HUMAN dihydropyrimidinase-like 4 107 axon guidance|pyrimidine base catabolic process cytosol hydrolase activity, acting on carbon-nitrogen (but not peptide) bonds, in cyclic amides central_nervous_system(2) 2 all_cancers(35;4.33e-08)|all_epithelial(44;6.75e-06)|Lung NSC(174;0.0108)|all_lung(145;0.0173)|all_neural(114;0.0726)|Glioma(114;0.172)|Melanoma(40;0.175)|Colorectal(31;0.19) OV - Ovarian serous cystadenocarcinoma(35;7.21e-05)|Epithelial(32;8.01e-05)|all cancers(32;9.29e-05)|BRCA - Breast invasive adenocarcinoma(275;0.206) CAGTGGACCACGTCTTCCCCG 0.642 NA 26 77 0 0 0 0 TOLLIP 54472 broad.mit.edu 37 11 1309866 1309866 + Silent SNP G G A TCGA-CQ-5323-01A-01D-1683-08 TCGA-CQ-5323-10A-01D-1683-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 892067ef-c465-46ea-8f91-10636dd0081b 66698a51-908a-483f-8e89-18fca752ec64 g.chr11:1309866G>A uc001lte.2 - 4 618 c.507C>T c.(505-507)GTC>GTT p.V169V TOLLIP_uc001ltd.2_Silent_p.V100V|TOLLIP_uc009ycu.2_Silent_p.V108V|TOLLIP_uc001ltf.2_Silent_p.V119V NM_019009 NP_061882 Q9H0E2 TOLIP_HUMAN toll interacting protein 169 cell-cell signaling|inflammatory response|innate immune response|intracellular signal transduction|leukocyte activation|phosphorylation cytosol|interleukin-1 receptor complex|interleukin-18 receptor complex kinase binding|signal transducer activity|Toll-like receptor binding 0 all_cancers(49;7.62e-05)|Breast(177;0.00257)|all_epithelial(84;0.0027)|Ovarian(85;0.0256)|Medulloblastoma(188;0.0321)|all_neural(188;0.0762) BRCA - Breast invasive adenocarcinoma(625;0.00152)|Lung(200;0.09)|LUSC - Lung squamous cell carcinoma(625;0.107) CGTAGGACATGACGAGGTTGA 0.647 NA 13 25 0 0 0 0 NELL1 4745 broad.mit.edu 37 11 21594899 21594899 + Missense_Mutation SNP C C G TCGA-CQ-5323-01A-01D-1683-08 TCGA-CQ-5323-10A-01D-1683-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 892067ef-c465-46ea-8f91-10636dd0081b 66698a51-908a-483f-8e89-18fca752ec64 g.chr11:21594899C>G uc001mqe.2 + 19 2479 c.2326C>G c.(2326-2328)CTT>GTT p.L776V NELL1_uc001mqf.2_Missense_Mutation_p.L729V|NELL1_uc009yid.2_Missense_Mutation_p.L804V|NELL1_uc010rdo.1_Missense_Mutation_p.L719V|NELL1_uc010rdp.1_Missense_Mutation_p.L489V|NELL1_uc001mqh.2_Missense_Mutation_p.L321V NM_006157 NP_006148 Q92832 NELL1_HUMAN nel-like 1 isoform 1 precursor 776 VWFC 5. cell adhesion|nervous system development extracellular region calcium ion binding|structural molecule activity ovary(2)|large_intestine(1) 3 TGTTTCACGGCTTAGTGGCTC 0.493 NA 10 107 0 0 0 0 CFL1 1072 broad.mit.edu 37 11 65623573 65623573 + Silent SNP G G A rs144718277 TCGA-CQ-5323-01A-01D-1683-08 TCGA-CQ-5323-10A-01D-1683-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 892067ef-c465-46ea-8f91-10636dd0081b 66698a51-908a-483f-8e89-18fca752ec64 g.chr11:65623573G>A uc001ofs.2 - 2 378 c.144C>T c.(142-144)ATC>ATT p.I48I CFL1_uc001oft.2_Silent_p.I48I|CFL1_uc001ofu.2_3'UTR NM_005507 NP_005498 P23528 COF1_HUMAN cofilin 1 (non-muscle) 48 ADF-H. actin cytoskeleton organization|anti-apoptosis|axon guidance|platelet activation|platelet degranulation|response to virus|Rho protein signal transduction cytoplasm|cytoskeleton|nuclear matrix actin binding 0 READ - Rectum adenocarcinoma(159;0.169) CCTCCTCCAGGATGATGTTCT 0.562 NA 5 54 0 0 0 0 CFL1 1072 broad.mit.edu 37 11 65623576 65623576 + Silent SNP G G A TCGA-CQ-5323-01A-01D-1683-08 TCGA-CQ-5323-10A-01D-1683-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 892067ef-c465-46ea-8f91-10636dd0081b 66698a51-908a-483f-8e89-18fca752ec64 g.chr11:65623576G>A uc001ofs.2 - 2 375 c.141C>T c.(139-141)ATC>ATT p.I47I CFL1_uc001oft.2_Silent_p.I47I|CFL1_uc001ofu.2_3'UTR NM_005507 NP_005498 P23528 COF1_HUMAN cofilin 1 (non-muscle) 47 ADF-H. actin cytoskeleton organization|anti-apoptosis|axon guidance|platelet activation|platelet degranulation|response to virus|Rho protein signal transduction cytoplasm|cytoskeleton|nuclear matrix actin binding 0 READ - Rectum adenocarcinoma(159;0.169) CCTCCAGGATGATGTTCTTCT 0.557 NA 4 58 0 0 0 0 PZP 5858 broad.mit.edu 37 12 9349218 9349218 + Missense_Mutation SNP C C G TCGA-CQ-5323-01A-01D-1683-08 TCGA-CQ-5323-10A-01D-1683-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 892067ef-c465-46ea-8f91-10636dd0081b 66698a51-908a-483f-8e89-18fca752ec64 g.chr12:9349218C>G uc001qvl.2 - 9 960 c.931G>C c.(931-933)GGC>CGC p.G311R PZP_uc009zgl.2_Missense_Mutation_p.G180R NM_002864 NP_002855 pregnancy-zone protein precursor ovary(3)|upper_aerodigestive_tract(1)|large_intestine(1) 5 ATTTCAAAGCCCGTATTTGTA 0.393 NA 20 58 0 0 0 0 MLL2 8085 broad.mit.edu 37 12 49447022 49447022 + Nonsense_Mutation SNP C C A TCGA-CQ-5323-01A-01D-1683-08 TCGA-CQ-5323-10A-01D-1683-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 892067ef-c465-46ea-8f91-10636dd0081b 66698a51-908a-483f-8e89-18fca752ec64 g.chr12:49447022C>A uc001rta.3 - 7 922 c.922G>T c.(922-924)GAG>TAG p.E308* NM_003482 NP_003473 O14686 MLL2_HUMAN myeloid/lymphoid or mixed-lineage leukemia 2 308 PHD-type 2.|RING-type 2; degenerate.|Cys-rich. chromatin silencing|histone H3-K4 methylation|oocyte growth|positive regulation of cell proliferation|positive regulation of estrogen receptor signaling pathway|positive regulation of transcription from RNA polymerase II promoter|response to estrogen stimulus|transcription, DNA-dependent histone methyltransferase complex histone-lysine N-methyltransferase activity|protein binding|transcription regulatory region DNA binding|zinc ion binding kidney(16)|central_nervous_system(12)|lung(4)|skin(4)|ovary(3)|pancreas(2) 41 GGCAGTTCCTCCATGGGTGGT 0.478 NA N|F|Mis medulloblastoma|renal HNSCC(34;0.089) 25 92 1.32e-05 1.46e-05 1 0 CCNA1 8900 broad.mit.edu 37 13 37014297 37014297 + Missense_Mutation SNP G G A TCGA-CQ-5323-01A-01D-1683-08 TCGA-CQ-5323-10A-01D-1683-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 892067ef-c465-46ea-8f91-10636dd0081b 66698a51-908a-483f-8e89-18fca752ec64 g.chr13:37014297G>A uc001uvr.3 + 6 1425 c.1075G>A c.(1075-1077)GTC>ATC p.V359I CCNA1_uc010teo.1_Missense_Mutation_p.V315I|CCNA1_uc010abq.2_Missense_Mutation_p.V315I|CCNA1_uc010abp.2_Missense_Mutation_p.V315I|CCNA1_uc001uvs.3_Missense_Mutation_p.V358I|CCNA1_uc010abr.2_RNA NM_003914 NP_003905 P78396 CCNA1_HUMAN cyclin A1 isoform a 359 cell division|G2/M transition of mitotic cell cycle|male meiosis I|mitosis|regulation of cyclin-dependent protein kinase activity|regulation of transcription involved in G1/S phase of mitotic cell cycle|spermatogenesis cytosol|microtubule cytoskeleton|nucleoplasm protein kinase binding lung(2)|skin(2)|ovary(1) 5 Breast(139;0.014)|Lung SC(185;0.0548)|Prostate(109;0.174) KIRC - Kidney renal clear cell carcinoma(5;0.119)|Kidney(79;0.169) all cancers(112;1.91e-07)|Epithelial(112;1.22e-05)|OV - Ovarian serous cystadenocarcinoma(117;0.00623)|BRCA - Breast invasive adenocarcinoma(63;0.0119)|GBM - Glioblastoma multiforme(144;0.0242) AGGAGTGTGCGTCAGGACTGA 0.463 NA 30 24 0 0 0 0 STRN3 29966 broad.mit.edu 37 14 31380280 31380280 + Missense_Mutation SNP G G A TCGA-CQ-5323-01A-01D-1683-08 TCGA-CQ-5323-10A-01D-1683-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 892067ef-c465-46ea-8f91-10636dd0081b 66698a51-908a-483f-8e89-18fca752ec64 g.chr14:31380280G>A uc001wqu.2 - 13 1903 c.1687C>T c.(1687-1689)CCG>TCG p.P563S STRN3_uc001wqv.2_Missense_Mutation_p.P479S|STRN3_uc010tpj.1_RNA NM_001083893 NP_001077362 Q13033 STRN3_HUMAN nuclear autoantigen isoform 1 563 WD 2. negative regulation of estrogen receptor signaling pathway|negative regulation of transcription from RNA polymerase II promoter|positive regulation of transcription from RNA polymerase II promoter|response to estradiol stimulus cytoplasm|dendrite|Golgi apparatus|neuronal cell body|nucleoplasm|nucleus|plasma membrane|protein complex armadillo repeat domain binding|calmodulin binding|protein complex binding|protein phosphatase 2A binding|sequence-specific DNA binding transcription factor activity 0 Hepatocellular(127;0.0877)|Breast(36;0.148) LUAD - Lung adenocarcinoma(48;0.00192)|Lung(238;0.0119)|BRCA - Breast invasive adenocarcinoma(188;0.0805) GBM - Glioblastoma multiforme(265;0.0124) CTGGGACTCGGCATATTCCAC 0.368 NA 3 70 0 0 0 0 BAHD1 22893 broad.mit.edu 37 15 40758306 40758306 + Missense_Mutation SNP C C T TCGA-CQ-5323-01A-01D-1683-08 TCGA-CQ-5323-10A-01D-1683-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 892067ef-c465-46ea-8f91-10636dd0081b 66698a51-908a-483f-8e89-18fca752ec64 g.chr15:40758306C>T uc001zlu.2 + 7 2391 c.2320C>T c.(2320-2322)CGC>TGC p.R774C BAHD1_uc001zlt.2_Missense_Mutation_p.R773C|BAHD1_uc010bbp.1_Missense_Mutation_p.R770C|BAHD1_uc001zlv.2_Missense_Mutation_p.R771C NM_014952 NP_055767 Q8TBE0 BAHD1_HUMAN bromo adjacent homology domain containing 1 774 BAH. heterochromatin formation|negative regulation of transcription, DNA-dependent|transcription, DNA-dependent chromatin silencing complex|chromosome chromatin binding|DNA binding|protein binding 0 all_cancers(109;8.28e-19)|all_epithelial(112;2.64e-15)|Lung NSC(122;5.14e-11)|all_lung(180;1.27e-09)|Melanoma(134;0.0574)|Ovarian(310;0.0822)|Colorectal(260;0.117) GBM - Glioblastoma multiforme(113;3.46e-06)|BRCA - Breast invasive adenocarcinoma(123;0.08) CCGCCACGGGCGCATCCTTAA 0.622 NA 20 64 0 0 0 0 ZFAND6 54469 broad.mit.edu 37 15 80412738 80412738 + Missense_Mutation SNP T T G TCGA-CQ-5323-01A-01D-1683-08 TCGA-CQ-5323-10A-01D-1683-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 892067ef-c465-46ea-8f91-10636dd0081b 66698a51-908a-483f-8e89-18fca752ec64 g.chr15:80412738T>G uc002bfe.1 + 3 363 c.52T>G c.(52-54)TGT>GGT p.C18G ZFAND6_uc002bff.1_Missense_Mutation_p.C18G|ZFAND6_uc002bfg.1_Missense_Mutation_p.C18G|ZFAND6_uc002bfh.1_Missense_Mutation_p.C18G|ZFAND6_uc002bfi.1_Missense_Mutation_p.C18G NM_019006 NP_061879 Q6FIF0 ZFAN6_HUMAN zinc finger, AN1-type domain 6 18 A20-type. DNA binding|zinc ion binding 0 TTCCACTGGCTGTGGATTTTA 0.393 NA 29 58 0 0 0 0 HYDIN 54768 broad.mit.edu 37 16 70891747 70891747 + Missense_Mutation SNP A A T TCGA-CQ-5323-01A-01D-1683-08 TCGA-CQ-5323-10A-01D-1683-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 892067ef-c465-46ea-8f91-10636dd0081b 66698a51-908a-483f-8e89-18fca752ec64 g.chr16:70891747A>T uc002ezr.2 - 72 12281 c.12153T>A c.(12151-12153)CAT>CAA p.H4051Q HYDIN_uc010cfy.2_RNA NM_032821 NP_116210 Q4G0P3 HYDIN_HUMAN hydrocephalus inducing isoform a 4052 ovary(1)|skin(1) 2 Ovarian(137;0.0654) TGATGCCCAGATGGAAAGGTG 0.468 NA 3 9 0 0 0 0 SLC13A5 284111 broad.mit.edu 37 17 6599181 6599181 + Silent SNP G G T TCGA-CQ-5323-01A-01D-1683-08 TCGA-CQ-5323-10A-01D-1683-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 892067ef-c465-46ea-8f91-10636dd0081b 66698a51-908a-483f-8e89-18fca752ec64 g.chr17:6599181G>T uc002gdj.2 - 7 1007 c.919C>A c.(919-921)CGG>AGG p.R307R SLC13A5_uc010vtf.1_Silent_p.R307R|SLC13A5_uc010clq.2_Silent_p.R264R|SLC13A5_uc002gdk.2_Silent_p.R290R|SLC13A5_uc002gdl.1_Silent_p.R289R NM_177550 NP_808218 Q86YT5 S13A5_HUMAN solute carrier family 13, member 5 isoform a 307 integral to membrane citrate transmembrane transporter activity 0 CCCAGCTTCCGGTACTCCTCC 0.567 NA 26 156 6.07e-21 7.09e-21 1 0 DNAH9 1770 broad.mit.edu 37 17 11725866 11725866 + Missense_Mutation SNP G G C TCGA-CQ-5323-01A-01D-1683-08 TCGA-CQ-5323-10A-01D-1683-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 892067ef-c465-46ea-8f91-10636dd0081b 66698a51-908a-483f-8e89-18fca752ec64 g.chr17:11725866G>C uc002gne.2 + 47 9030 c.8962G>C c.(8962-8964)GCA>CCA p.A2988P DNAH9_uc010coo.2_Missense_Mutation_p.A2282P NM_001372 NP_001363 Q9NYC9 DYH9_HUMAN dynein, axonemal, heavy chain 9 isoform 2 2988 AAA 4 (By similarity). 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) GCCTCAGCAAGCATTGGAGTC 0.532 NA 7 175 0 0 0 0 KRT39 390792 broad.mit.edu 37 17 39118800 39118800 + Nonsense_Mutation SNP G G A TCGA-CQ-5323-01A-01D-1683-08 TCGA-CQ-5323-10A-01D-1683-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 892067ef-c465-46ea-8f91-10636dd0081b 66698a51-908a-483f-8e89-18fca752ec64 g.chr17:39118800G>A uc002hvo.1 - 4 760 c.724C>T c.(724-726)CAG>TAG p.Q242* KRT39_uc010wfm.1_5'UTR NM_213656 NP_998821 Q6A163 K1C39_HUMAN type I hair keratin KA35 242 Rod.|Coil 1B. intermediate filament structural molecule activity 0 Breast(137;0.00043)|Ovarian(249;0.15) AGCTGACACTGTAAAGAATTG 0.418 NA 4 133 0 0 0 0 KRT36 8689 broad.mit.edu 37 17 39644901 39644901 + Missense_Mutation SNP G G A rs148033888 byFrequency TCGA-CQ-5323-01A-01D-1683-08 TCGA-CQ-5323-10A-01D-1683-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 892067ef-c465-46ea-8f91-10636dd0081b 66698a51-908a-483f-8e89-18fca752ec64 g.chr17:39644901G>A uc002hwt.2 - 2 535 c.535C>T c.(535-537)CGG>TGG p.R179W NM_003771 NP_003762 O76013 KRT36_HUMAN keratin 36 179 Rod.|Coil 1B. intermediate filament protein binding|structural constituent of epidermis 0 Breast(137;0.000286) CACTTGGTCCGGAAGTCGTCA 0.552 NA 23 42 0 0 0 0 TRIM37 4591 broad.mit.edu 37 17 57125153 57125153 + Silent SNP G G A TCGA-CQ-5323-01A-01D-1683-08 TCGA-CQ-5323-10A-01D-1683-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 892067ef-c465-46ea-8f91-10636dd0081b 66698a51-908a-483f-8e89-18fca752ec64 g.chr17:57125153G>A uc002iwy.3 - 16 2002 c.1558C>T c.(1558-1560)CTG>TTG p.L520L TRIM37_uc002iwz.3_Silent_p.L520L|TRIM37_uc002ixa.3_Silent_p.L398L|TRIM37_uc010woc.1_Silent_p.L486L NM_001005207 NP_001005207 O94972 TRI37_HUMAN tripartite motif-containing 37 protein 520 perinuclear region of cytoplasm|peroxisome ligase activity|protein binding|zinc ion binding lung(2)|pancreas(2)|ovary(1)|skin(1)|breast(1) 7 Medulloblastoma(34;0.0922)|all_neural(34;0.101) ACAAGATCCAGATCCAGATCT 0.418 NA Mulibrey_Nanism 5 57 0 0 0 0 ZNF236 7776 broad.mit.edu 37 18 74611013 74611013 + Missense_Mutation SNP T T A TCGA-CQ-5323-01A-01D-1683-08 TCGA-CQ-5323-10A-01D-1683-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 892067ef-c465-46ea-8f91-10636dd0081b 66698a51-908a-483f-8e89-18fca752ec64 g.chr18:74611013T>A uc002lmi.2 + 11 1921 c.1723T>A c.(1723-1725)TTT>ATT p.F575I ZNF236_uc002lmj.2_RNA NM_007345 NP_031371 Q9UL36 ZN236_HUMAN zinc finger protein 236 575 C2H2-type 13. cellular response to glucose stimulus nucleus DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding ovary(4) 4 Prostate(75;0.0405)|Esophageal squamous(42;0.129)|Melanoma(33;0.132) OV - Ovarian serous cystadenocarcinoma(15;4.36e-06)|BRCA - Breast invasive adenocarcinoma(31;0.0686) TGACAAAAAATTTCGAACCTC 0.383 NA 5 63 0 0 0 0 ZNF700 90592 broad.mit.edu 37 19 12058339 12058339 + Missense_Mutation SNP G G C TCGA-CQ-5323-01A-01D-1683-08 TCGA-CQ-5323-10A-01D-1683-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 892067ef-c465-46ea-8f91-10636dd0081b 66698a51-908a-483f-8e89-18fca752ec64 g.chr19:12058339G>C uc002msu.2 + 3 327 c.201G>C c.(199-201)TGG>TGC p.W67C ZNF700_uc010xme.1_Missense_Mutation_p.W85C|ZNF763_uc010xmf.1_Intron NM_144566 NP_653167 Q9H0M5 ZN700_HUMAN zinc finger protein 700 67 KRAB. regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding 0 GAAAAAAATGGAGTGACCAGA 0.358 NA 3 89 0 0 0 0 ZNF526 116115 broad.mit.edu 37 19 42728645 42728645 + Missense_Mutation SNP G G A TCGA-CQ-5323-01A-01D-1683-08 TCGA-CQ-5323-10A-01D-1683-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 892067ef-c465-46ea-8f91-10636dd0081b 66698a51-908a-483f-8e89-18fca752ec64 g.chr19:42728645G>A uc002osz.1 + 3 246 c.90G>A c.(88-90)ATG>ATA p.M30I NM_133444 NP_597701 Q8TF50 ZN526_HUMAN zinc finger protein 526 30 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding 0 Prostate(69;0.0704) CGGCAGAGATGATGGAGATGT 0.557 NA 5 85 0 0 0 0 ZNF761 388561 broad.mit.edu 37 19 53959551 53959551 + Missense_Mutation SNP A A G TCGA-CQ-5323-01A-01D-1683-08 TCGA-CQ-5323-10A-01D-1683-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 892067ef-c465-46ea-8f91-10636dd0081b 66698a51-908a-483f-8e89-18fca752ec64 g.chr19:53959551A>G uc010eqp.2 + 7 2248 c.1790A>G c.(1789-1791)CAG>CGG p.Q597R ZNF761_uc010ydy.1_Missense_Mutation_p.Q543R|ZNF761_uc002qbt.1_Missense_Mutation_p.Q543R NM_001008401 NP_001008401 Q86XN6 ZN761_HUMAN zinc finger protein 761 597 C2H2-type 14; degenerate. regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding ovary(1) 1 GBM - Glioblastoma multiforme(134;0.00786) GAAATACATCAGAAAATTCAT 0.408 NA 24 60 0 0 0 0 GCKR 2646 broad.mit.edu 37 2 27728586 27728586 + Missense_Mutation SNP C C T TCGA-CQ-5323-01A-01D-1683-08 TCGA-CQ-5323-10A-01D-1683-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 892067ef-c465-46ea-8f91-10636dd0081b 66698a51-908a-483f-8e89-18fca752ec64 g.chr2:27728586C>T uc002rky.2 + 10 818 c.752C>T c.(751-753)CCC>CTC p.P251L GCKR_uc010ezd.2_Missense_Mutation_p.P251L|GCKR_uc010ylu.1_Missense_Mutation_p.P61L NM_001486 NP_001477 Q14397 GCKR_HUMAN glucokinase regulatory protein 251 SIS 1. P -> V (in Ref. 2; CAB61828). carbohydrate metabolic process|glucose transport|negative regulation of glucokinase activity|positive regulation of gene expression|protein import into nucleus, translocation|regulation of glucose transport|response to fructose stimulus|transmembrane transport|triglyceride homeostasis|urate metabolic process cytosol|nucleoplasm fructose-6-phosphate binding|protein binding ovary(2) 2 Acute lymphoblastic leukemia(172;0.155) CCTCTTCAGCCCGAGGGTCTC 0.552 NA 8 54 0 0 0 0 DPP10 57628 broad.mit.edu 37 2 116534856 116534856 + Missense_Mutation SNP G G A TCGA-CQ-5323-01A-01D-1683-08 TCGA-CQ-5323-10A-01D-1683-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 892067ef-c465-46ea-8f91-10636dd0081b 66698a51-908a-483f-8e89-18fca752ec64 g.chr2:116534856G>A uc002tla.1 + 14 1751 c.1294G>A c.(1294-1296)GAT>AAT p.D432N DPP10_uc002tlb.1_Missense_Mutation_p.D382N|DPP10_uc002tlc.1_Missense_Mutation_p.D428N|DPP10_uc002tle.2_Missense_Mutation_p.D436N|DPP10_uc002tlf.1_Missense_Mutation_p.D425N NM_020868 NP_065919 Q8N608 DPP10_HUMAN dipeptidyl peptidase 10 isoform long 432 Extracellular (Potential). proteolysis integral to membrane|membrane fraction serine-type peptidase activity ovary(5)|large_intestine(2)|skin(2)|breast(1) 10 CTTGGCATACGATGAAACTAC 0.358 NA 9 36 0 0 0 0 PDE11A 50940 broad.mit.edu 37 2 178682613 178682613 + Missense_Mutation SNP A A G TCGA-CQ-5323-01A-01D-1683-08 TCGA-CQ-5323-10A-01D-1683-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 892067ef-c465-46ea-8f91-10636dd0081b 66698a51-908a-483f-8e89-18fca752ec64 g.chr2:178682613A>G uc002ulq.2 - 8 1934 c.1616T>C c.(1615-1617)TTT>TCT p.F539S PDE11A_uc002ulp.2_Missense_Mutation_p.F95S|PDE11A_uc002ulr.2_Missense_Mutation_p.F289S|PDE11A_uc002uls.1_Missense_Mutation_p.F181S|PDE11A_uc002ult.1_Missense_Mutation_p.F289S|PDE11A_uc002ulu.1_Missense_Mutation_p.F181S NM_016953 NP_058649 Q9HCR9 PDE11_HUMAN phosphodiesterase 11A isoform 4 539 GAF 2. platelet activation|signal transduction cytosol 3',5'-cyclic-AMP phosphodiesterase activity|3',5'-cyclic-GMP phosphodiesterase activity|metal ion binding ovary(3)|large_intestine(1) 4 OV - Ovarian serous cystadenocarcinoma(117;0.00121)|Epithelial(96;0.00455)|all cancers(119;0.02) TGCATCATCAAAAGGTTTCCC 0.378 NA Primary_Pigmented_Nodular_Adrenocortical_Disease_Familial 5 34 0 0 0 0 BOLL 66037 broad.mit.edu 37 2 198636708 198636708 + Splice_Site SNP T T G TCGA-CQ-5323-01A-01D-1683-08 TCGA-CQ-5323-10A-01D-1683-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 892067ef-c465-46ea-8f91-10636dd0081b 66698a51-908a-483f-8e89-18fca752ec64 g.chr2:198636708T>G uc002uus.2 - 6 663 c.353_splice c.e6-1 p.R118_splice uc002uup.2_Intron|BOLL_uc002uur.2_Splice_Site_p.R124_splice|BOLL_uc002uut.2_Splice_Site_p.R130_splice|BOLL_uc010zha.1_Splice_Site_p.G9_splice|BOLL_uc002uuu.1_Splice_Site_p.R124_splice NM_033030 NP_149019 Q8N9W6 BOLL_HUMAN boule isoform 2 cell differentiation|meiosis|multicellular organismal development|positive regulation of translational initiation|spermatogenesis cytoplasm nucleotide binding|protein binding|RNA binding|translation activator activity ovary(2) 2 TACTAGAACCTAAAGCAAAGA 0.279 NA 16 87 0 0 0 0 TRIOBP 11078 broad.mit.edu 37 22 38119916 38119916 + Silent SNP C C T rs55853304 TCGA-CQ-5323-01A-01D-1683-08 TCGA-CQ-5323-10A-01D-1683-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 892067ef-c465-46ea-8f91-10636dd0081b 66698a51-908a-483f-8e89-18fca752ec64 g.chr22:38119916C>T uc003atr.2 + 7 1624 c.1353C>T c.(1351-1353)CCC>CCT p.P451P TRIOBP_uc003atu.2_Silent_p.P279P|TRIOBP_uc003atq.1_Silent_p.P451P|TRIOBP_uc003ats.1_Silent_p.P279P NM_001039141 NP_001034230 Q9H2D6 TARA_HUMAN TRIO and F-actin binding protein isoform 6 451 actin modification|barbed-end actin filament capping actin cytoskeleton|cytoplasm|nucleus actin binding|GTP-Rho binding|myosin II binding|protein binding|ubiquitin protein ligase binding central_nervous_system(1) 1 Melanoma(58;0.0574) GAGACAACCCCACAACATCCT 0.602 NA 8 47 0 0 0 0 MKL1 57591 broad.mit.edu 37 22 40817050 40817050 + Nonsense_Mutation SNP C C A TCGA-CQ-5323-01A-01D-1683-08 TCGA-CQ-5323-10A-01D-1683-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 892067ef-c465-46ea-8f91-10636dd0081b 66698a51-908a-483f-8e89-18fca752ec64 g.chr22:40817050C>A uc003ayv.1 - 7 889 c.682G>T c.(682-684)GAG>TAG p.E228* MKL1_uc003ayw.1_Nonsense_Mutation_p.E228*|MKL1_uc010gye.1_Nonsense_Mutation_p.E228*|MKL1_uc010gyf.1_Nonsense_Mutation_p.E178* NM_020831 NP_065882 Q969V6 MKL1_HUMAN megakaryoblastic leukemia 1 protein 228 Mediates interaction with SCAI and ACTB (By similarity). positive regulation of transcription from RNA polymerase II promoter|smooth muscle cell differentiation|transcription, DNA-dependent cytoplasm|nucleus actin monomer binding|leucine zipper domain binding|nucleic acid binding|transcription coactivator activity ovary(2)|lung(1)|breast(1)|central_nervous_system(1) 5 GGCTTCAGCTCCTTGGCCTTC 0.597 NA T RBM15 acute megakaryocytic leukemia 6 77 8.13e-05 8.92e-05 1 0 SLC25A17 10478 broad.mit.edu 37 22 41173340 41173340 + Silent SNP C C T TCGA-CQ-5323-01A-01D-1683-08 TCGA-CQ-5323-10A-01D-1683-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 892067ef-c465-46ea-8f91-10636dd0081b 66698a51-908a-483f-8e89-18fca752ec64 g.chr22:41173340C>T uc003azc.2 - 6 629 c.489G>A c.(487-489)TCG>TCA p.S163S SLC25A17_uc010gyg.2_RNA|SLC25A17_uc011aou.1_Silent_p.S126S|SLC25A17_uc003azd.2_RNA|SLC25A17_uc011aov.1_Silent_p.S90S NM_006358 NP_006349 O43808 PM34_HUMAN solute carrier family 25 (mitochondrial carrier; 163 Solcar 2.|Helical; Name=4; (Potential). fatty acid alpha-oxidation integral to plasma membrane|mitochondrial inner membrane|peroxisomal membrane adenine nucleotide transmembrane transporter activity|protein binding 0 TCCATAAAGCCGAGATTCCTT 0.408 NA 13 26 0 0 0 0 SBF1 6305 broad.mit.edu 37 22 50903692 50903692 + Nonsense_Mutation SNP G G T TCGA-CQ-5323-01A-01D-1683-08 TCGA-CQ-5323-10A-01D-1683-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 892067ef-c465-46ea-8f91-10636dd0081b 66698a51-908a-483f-8e89-18fca752ec64 g.chr22:50903692G>T uc003blh.2 - 11 1350 c.1155C>A c.(1153-1155)TGC>TGA p.C385* SBF1_uc011arx.1_Nonsense_Mutation_p.C49*|SBF1_uc003bli.2_Nonsense_Mutation_p.C386* NM_002972 NP_002963 O95248 MTMR5_HUMAN SET binding factor 1 385 dDENN. protein dephosphorylation integral to membrane|nucleus protein tyrosine/serine/threonine phosphatase activity 0 all_cancers(38;5.78e-13)|all_epithelial(38;1.71e-11)|all_lung(38;3.89e-05)|Breast(42;0.000523)|Lung NSC(38;0.000992)|Ovarian(80;0.0221)|Hepatocellular(38;0.0691)|Lung SC(80;0.113) BRCA - Breast invasive adenocarcinoma(115;0.206)|LUAD - Lung adenocarcinoma(64;0.247) CGACGTGCAGGCACCAGCGAT 0.642 NA 4 7 2.56e-06 2.84e-06 1 0 MYRIP 25924 broad.mit.edu 37 3 40085595 40085595 + Silent SNP G G A TCGA-CQ-5323-01A-01D-1683-08 TCGA-CQ-5323-10A-01D-1683-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 892067ef-c465-46ea-8f91-10636dd0081b 66698a51-908a-483f-8e89-18fca752ec64 g.chr3:40085595G>A uc003cka.2 + 3 300 c.165G>A c.(163-165)AAG>AAA p.K55K MYRIP_uc010hhu.2_RNA|MYRIP_uc010hhv.2_Silent_p.K55K|MYRIP_uc010hhw.2_Missense_Mutation_p.S12N|MYRIP_uc010hhx.1_Silent_p.K55K NM_015460 NP_056275 Q8NFW9 MYRIP_HUMAN myosin VIIA and Rab interacting protein 55 RabBD. intracellular protein transport actin binding|zinc ion binding ovary(2)|upper_aerodigestive_tract(1)|central_nervous_system(1)|skin(1) 5 KIRC - Kidney renal clear cell carcinoma(284;0.174)|Kidney(284;0.206) TCCTCTCGAAGCACCAGCAGT 0.542 NA 4 32 0 0 0 0 NKTR 4820 broad.mit.edu 37 3 42659092 42659092 + Missense_Mutation SNP A A G TCGA-CQ-5323-01A-01D-1683-08 TCGA-CQ-5323-10A-01D-1683-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 892067ef-c465-46ea-8f91-10636dd0081b 66698a51-908a-483f-8e89-18fca752ec64 g.chr3:42659092A>G uc003clo.2 + 3 236 c.89A>G c.(88-90)GAC>GGC p.D30G NKTR_uc003cll.1_Missense_Mutation_p.D30G|NKTR_uc003clm.1_5'UTR|NKTR_uc003clp.2_5'UTR|NKTR_uc011azp.1_5'UTR|NKTR_uc003clq.1_5'Flank NM_005385 NP_005376 P30414 NKTR_HUMAN natural killer-tumor recognition sequence 30 PPIase cyclophilin-type. protein folding membrane cyclosporin A binding|peptidyl-prolyl cis-trans isomerase activity ovary(2)|skin(1) 3 KIRC - Kidney renal clear cell carcinoma(284;0.24) CTCTTCTCAGACATATGTCCA 0.328 NA 10 42 0 0 0 0 NBEAL2 23218 broad.mit.edu 37 3 47044464 47044464 + Missense_Mutation SNP G G A TCGA-CQ-5323-01A-01D-1683-08 TCGA-CQ-5323-10A-01D-1683-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 892067ef-c465-46ea-8f91-10636dd0081b 66698a51-908a-483f-8e89-18fca752ec64 g.chr3:47044464G>A uc003cqp.2 + 34 5656 c.5477G>A c.(5476-5478)CGC>CAC p.R1826H NBEAL2_uc010hjm.1_Missense_Mutation_p.R1203H|NBEAL2_uc010hjn.1_Missense_Mutation_p.R222H|NBEAL2_uc010hjo.1_5'Flank NM_015175 NP_055990 Q6ZNJ1 NBEL2_HUMAN neurobeachin-like 2 1826 binding ovary(1) 1 Acute lymphoblastic leukemia(5;0.0534) BRCA - Breast invasive adenocarcinoma(193;0.0012)|KIRC - Kidney renal clear cell carcinoma(197;0.00575)|Kidney(197;0.00656) CCCATCCCCCGCTGGAAACTG 0.612 NA 16 19 0 0 0 0 PDZRN3 23024 broad.mit.edu 37 3 73432746 73432746 + Missense_Mutation SNP G G A TCGA-CQ-5323-01A-01D-1683-08 TCGA-CQ-5323-10A-01D-1683-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 892067ef-c465-46ea-8f91-10636dd0081b 66698a51-908a-483f-8e89-18fca752ec64 g.chr3:73432746G>A uc003dpl.1 - 10 3067 c.2971C>T c.(2971-2973)CGG>TGG p.R991W PDZRN3_uc011bgh.1_Missense_Mutation_p.R648W|PDZRN3_uc010hoe.1_Missense_Mutation_p.R689W|PDZRN3_uc011bgf.1_Missense_Mutation_p.R708W|PDZRN3_uc011bgg.1_Missense_Mutation_p.R711W NM_015009 NP_055824 Q9UPQ7 PZRN3_HUMAN PDZ domain containing ring finger 3 991 Potential. ubiquitin-protein ligase activity|zinc ion binding pancreas(2)|ovary(2)|skin(2)|large_intestine(1) 7 Prostate(10;0.114)|Lung NSC(201;0.187)|Lung SC(41;0.236) BRCA - Breast invasive adenocarcinoma(55;0.00041)|Epithelial(33;0.0023)|LUSC - Lung squamous cell carcinoma(21;0.0048)|Lung(16;0.0105)|KIRC - Kidney renal clear cell carcinoma(39;0.111)|Kidney(39;0.134) AACTCGCGCCGCCGCCGCTGC 0.582 NA 14 72 0 0 0 0 OR5K4 403278 broad.mit.edu 37 3 98073476 98073476 + Missense_Mutation SNP G G C TCGA-CQ-5323-01A-01D-1683-08 TCGA-CQ-5323-10A-01D-1683-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 892067ef-c465-46ea-8f91-10636dd0081b 66698a51-908a-483f-8e89-18fca752ec64 g.chr3:98073476G>C uc011bgv.1 + 1 779 c.779G>C c.(778-780)GGA>GCA p.G260A NM_001005517 NP_001005517 A6NMS3 OR5K4_HUMAN olfactory receptor, family 5, subfamily K, 260 Helical; Name=6; (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity central_nervous_system(1) 1 ATGTATATTGGACCATCTGAA 0.348 NA 4 178 0 0 0 0 SIDT1 54847 broad.mit.edu 37 3 113331029 113331029 + Missense_Mutation SNP C C T TCGA-CQ-5323-01A-01D-1683-08 TCGA-CQ-5323-10A-01D-1683-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 892067ef-c465-46ea-8f91-10636dd0081b 66698a51-908a-483f-8e89-18fca752ec64 g.chr3:113331029C>T uc003eak.2 + 19 2605 c.1954C>T c.(1954-1956)CGT>TGT p.R652C SIDT1_uc011bif.1_RNA|SIDT1_uc003eaj.1_Missense_Mutation_p.R652C|SIDT1_uc011big.1_Missense_Mutation_p.R405C|SIDT1_uc011bih.1_RNA|SIDT1_uc011bii.1_Missense_Mutation_p.R105C NM_017699 NP_060169 Q9NXL6 SIDT1_HUMAN SID1 transmembrane family, member 1 precursor 652 Cytoplasmic (Potential). integral to membrane ovary(3)|pancreas(1)|skin(1) 5 TTATATGGGTCGTTTCAAGAT 0.413 NA 5 65 0 0 0 0 KIAA1407 57577 broad.mit.edu 37 3 113723577 113723577 + Missense_Mutation SNP G G C TCGA-CQ-5323-01A-01D-1683-08 TCGA-CQ-5323-10A-01D-1683-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 892067ef-c465-46ea-8f91-10636dd0081b 66698a51-908a-483f-8e89-18fca752ec64 g.chr3:113723577G>C uc003eax.2 - 11 2032 c.1885C>G c.(1885-1887)CCT>GCT p.P629A KIAA1407_uc011bin.1_RNA|KIAA1407_uc011bio.1_Missense_Mutation_p.P607A NM_020817 NP_065868 Q8NCU4 K1407_HUMAN hypothetical protein LOC57577 629 ovary(2) 2 TCAGTCCCAGGGGAAGCAACA 0.423 NA 27 188 0 0 0 0 HEG1 57493 broad.mit.edu 37 3 124692701 124692701 + Missense_Mutation SNP G G C TCGA-CQ-5323-01A-01D-1683-08 TCGA-CQ-5323-10A-01D-1683-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 892067ef-c465-46ea-8f91-10636dd0081b 66698a51-908a-483f-8e89-18fca752ec64 g.chr3:124692701G>C uc003ehs.3 - 16 3938 c.3870C>G c.(3868-3870)TTC>TTG p.F1290L HEG1_uc003ehr.3_Missense_Mutation_p.F144L|HEG1_uc011bke.1_Missense_Mutation_p.F1390L NM_020733 NP_065784 Q9ULI3 HEG1_HUMAN HEG homolog 1 precursor 1290 Cytoplasmic (Potential). extracellular region|integral to membrane calcium ion binding ovary(2) 2 GGGACATTTGGAAATCTCCAC 0.383 NA 4 98 0 0 0 0 RHO 6010 broad.mit.edu 37 3 129251571 129251571 + Missense_Mutation SNP G G A TCGA-CQ-5323-01A-01D-1683-08 TCGA-CQ-5323-10A-01D-1683-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 892067ef-c465-46ea-8f91-10636dd0081b 66698a51-908a-483f-8e89-18fca752ec64 g.chr3:129251571G>A uc003emt.2 + 4 987 c.892G>A c.(892-894)GCC>ACC p.A298T NM_000539 NP_000530 P08100 OPSD_HUMAN rhodopsin 298 Helical; Name=7; (Potential). protein-chromophore linkage|rhodopsin mediated signaling pathway Golgi apparatus|integral to plasma membrane|photoreceptor inner segment membrane|photoreceptor outer segment membrane G-protein coupled receptor activity|metal ion binding|photoreceptor activity|protein binding 0 all_neural(597;0.0227)|Myeloproliferative disorder(1037;0.0255)|Prostate(884;0.183) GBM - Glioblastoma multiforme(114;2.58e-05)|Lung(219;0.0234) Halothane(DB01159) TGCCAAGAGCGCCGCCATCTA 0.602 NA 7 111 0 0 0 0 KCNMB2 10242 broad.mit.edu 37 3 178543544 178543544 + Silent SNP G G A TCGA-CQ-5323-01A-01D-1683-08 TCGA-CQ-5323-10A-01D-1683-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 892067ef-c465-46ea-8f91-10636dd0081b 66698a51-908a-483f-8e89-18fca752ec64 g.chr3:178543544G>A uc003fjd.2 + 3 568 c.225G>A c.(223-225)CAG>CAA p.Q75Q uc003fjb.1_Intron|uc003fjc.1_Intron|KCNMB2_uc003fje.2_Silent_p.Q75Q|KCNMB2_uc003fjf.2_Silent_p.Q75Q|KCNMB2_uc011bqa.1_Intron|KCNMB2_uc011bqb.1_Intron NM_181361 NP_852006 Q9Y691 KCMB2_HUMAN calcium-activated potassium channel beta 2 75 Extracellular (Potential). detection of calcium ion|platelet activation|regulation of action potential in neuron|regulation of vasoconstriction voltage-gated potassium channel complex calcium-activated potassium channel activity|ion channel inhibitor activity|potassium channel regulator activity ovary(1) 1 all_cancers(143;5.38e-18)|Ovarian(172;0.00769)|Breast(254;0.125) OV - Ovarian serous cystadenocarcinoma(80;1.32e-27)|GBM - Glioblastoma multiforme(14;0.0321)|BRCA - Breast invasive adenocarcinoma(182;0.0841) CATACATGCAGAGGTAATACC 0.527 NA 47 255 0 0 0 0 TFRC 7037 broad.mit.edu 37 3 195792459 195792459 + Silent SNP T T C TCGA-CQ-5323-01A-01D-1683-08 TCGA-CQ-5323-10A-01D-1683-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 892067ef-c465-46ea-8f91-10636dd0081b 66698a51-908a-483f-8e89-18fca752ec64 g.chr3:195792459T>C uc003fvz.3 - 10 1336 c.1053A>G c.(1051-1053)GGA>GGG p.G351G TFRC_uc003fwa.3_Silent_p.G351G|TFRC_uc010hzy.2_Silent_p.G270G|TFRC_uc011btr.1_Silent_p.G69G NM_003234 NP_003225 P02786 TFR1_HUMAN transferrin receptor 351 Extracellular (Potential). cellular iron ion homeostasis|endocytosis|interspecies interaction between organisms|proteolysis|transferrin transport|transmembrane transport coated pit|endosome|integral to plasma membrane|melanosome peptidase activity|transferrin receptor activity ovary(3) 3 all_cancers(143;1.94e-08)|Ovarian(172;0.0634)|Breast(254;0.206) Epithelial(36;1.36e-24)|all cancers(36;3.34e-22)|OV - Ovarian serous cystadenocarcinoma(49;1.17e-18)|LUSC - Lung squamous cell carcinoma(58;1.51e-06)|Lung(62;1.95e-06) GBM - Glioblastoma multiforme(46;0.00233) AGGGACAGTCTCCTTCCATAT 0.438 NA T BCL6 NHL 19 180 0 0 0 0 FSTL5 56884 broad.mit.edu 37 4 162307361 162307361 + Silent SNP C C T rs35820116 byFrequency TCGA-CQ-5323-01A-01D-1683-08 TCGA-CQ-5323-10A-01D-1683-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 892067ef-c465-46ea-8f91-10636dd0081b 66698a51-908a-483f-8e89-18fca752ec64 g.chr4:162307361C>T uc003iqh.2 - 16 2518 c.2082G>A c.(2080-2082)ACG>ACA p.T694T FSTL5_uc003iqi.2_Silent_p.T693T|FSTL5_uc010iqv.2_Silent_p.T684T|uc010iqu.1_RNA NM_020116 NP_064501 Q8N475 FSTL5_HUMAN follistatin-like 5 isoform a 694 extracellular region calcium ion binding ovary(2)|pancreas(2)|upper_aerodigestive_tract(1)|large_intestine(1)|central_nervous_system(1)|skin(1) 8 all_hematologic(180;0.24) COAD - Colon adenocarcinoma(41;0.179) ATGGAGTGCCCGTCACATCAC 0.478 NA 4 49 0 0 0 0 EGFLAM 133584 broad.mit.edu 37 5 38370498 38370498 + Missense_Mutation SNP G G A TCGA-CQ-5323-01A-01D-1683-08 TCGA-CQ-5323-10A-01D-1683-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 892067ef-c465-46ea-8f91-10636dd0081b 66698a51-908a-483f-8e89-18fca752ec64 g.chr5:38370498G>A uc003jlc.1 + 6 970 c.646G>A c.(646-648)GTG>ATG p.V216M EGFLAM_uc003jlb.1_Missense_Mutation_p.V216M NM_152403 NP_689616 Q63HQ2 EGFLA_HUMAN EGF-like, fibronectin type III and laminin G 216 Fibronectin type-III 2. cell junction|proteinaceous extracellular matrix|synapse pancreas(3)|skin(3)|ovary(1) 7 all_lung(31;0.000385) CCAGTTTGCCGTGAGGGCAAT 0.567 NA 6 31 0 0 0 0 ITGA1 3672 broad.mit.edu 37 5 52235492 52235492 + Missense_Mutation SNP A A G TCGA-CQ-5323-01A-01D-1683-08 TCGA-CQ-5323-10A-01D-1683-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 892067ef-c465-46ea-8f91-10636dd0081b 66698a51-908a-483f-8e89-18fca752ec64 g.chr5:52235492A>G uc003jou.2 + 25 3203 c.3151A>G c.(3151-3153)ACT>GCT p.T1051A ITGA1_uc003jov.2_RNA|ITGA1_uc003jow.2_Missense_Mutation_p.T582A NM_181501 NP_852478 P56199 ITA1_HUMAN integrin, alpha 1 precursor 1051 Extracellular (Potential). axon guidance|cell-matrix adhesion|integrin-mediated signaling pathway|muscle contraction integrin complex collagen binding|receptor activity ovary(2)|lung(1) 3 Lung NSC(810;5.05e-05)|Breast(144;0.0851) GACTACATCAACTGACCATCT 0.323 NA 31 37 0 0 0 0 PCDHB15 56121 broad.mit.edu 37 5 140626678 140626678 + Missense_Mutation SNP G G T TCGA-CQ-5323-01A-01D-1683-08 TCGA-CQ-5323-10A-01D-1683-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 892067ef-c465-46ea-8f91-10636dd0081b 66698a51-908a-483f-8e89-18fca752ec64 g.chr5:140626678G>T uc003lje.2 + 1 1532 c.1532G>T c.(1531-1533)GGC>GTC p.G511V NM_018935 NP_061758 Q9Y5E8 PCDBF_HUMAN protocadherin beta 15 precursor 511 Extracellular (Potential).|Cadherin 5. homophilic cell adhesion|nervous system development integral to plasma membrane calcium ion binding ovary(2)|breast(2)|skin(1) 5 KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339) ACGGACAACGGCCACCTGTTC 0.682 NA 29 89 1.75e-13 2.02e-13 1 0 PCDHGA3 56112 broad.mit.edu 37 5 140723799 140723799 + Missense_Mutation SNP G G A TCGA-CQ-5323-01A-01D-1683-08 TCGA-CQ-5323-10A-01D-1683-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 892067ef-c465-46ea-8f91-10636dd0081b 66698a51-908a-483f-8e89-18fca752ec64 g.chr5:140723799G>A uc003ljm.1 + 1 199 c.199G>A c.(199-201)GTC>ATC p.V67I PCDHGA1_uc003lji.1_Intron|PCDHGA2_uc003ljk.1_Intron|PCDHGA3_uc010jfx.1_5'UTR|PCDHGA3_uc011dap.1_Missense_Mutation_p.V67I NM_018916 NP_061739 Q9Y5H0 PCDG3_HUMAN protocadherin gamma subfamily A, 3 isoform 1 67 Cadherin 1.|Extracellular (Potential). homophilic cell adhesion integral to membrane|plasma membrane calcium ion binding breast(1) 1 KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191) AGTCCGCATCGTCTCCAGAGG 0.617 NA OREG0016855 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 5 163 0 0 0 0 UNC5A 90249 broad.mit.edu 37 5 176295646 176295646 + Missense_Mutation SNP A A G TCGA-CQ-5323-01A-01D-1683-08 TCGA-CQ-5323-10A-01D-1683-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 892067ef-c465-46ea-8f91-10636dd0081b 66698a51-908a-483f-8e89-18fca752ec64 g.chr5:176295646A>G uc003mey.2 + 4 713 c.521A>G c.(520-522)GAG>GGG p.E174G UNC5A_uc003mex.1_Missense_Mutation_p.E174G|UNC5A_uc010jkg.1_Missense_Mutation_p.E134G NM_133369 NP_588610 Q6ZN44 UNC5A_HUMAN netrin receptor Unc5h1 precursor 174 Ig-like C2-type.|Extracellular (Potential). apoptosis|axon guidance|regulation of apoptosis integral to membrane|plasma membrane skin(1) 1 all_cancers(89;0.000119)|Renal(175;0.000269)|Lung NSC(126;0.00696)|all_lung(126;0.0115) Medulloblastoma(196;0.00498)|all_neural(177;0.0138) Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178) CGTCCACCGGAGGGCATCCCT 0.662 NA 3 11 0 0 0 0 MBOAT1 154141 broad.mit.edu 37 6 20126818 20126818 + Missense_Mutation SNP A A G TCGA-CQ-5323-01A-01D-1683-08 TCGA-CQ-5323-10A-01D-1683-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 892067ef-c465-46ea-8f91-10636dd0081b 66698a51-908a-483f-8e89-18fca752ec64 g.chr6:20126818A>G uc003ncx.1 - 7 849 c.644T>C c.(643-645)ATA>ACA p.I215T MBOAT1_uc011dji.1_Missense_Mutation_p.I66T NM_001080480 NP_001073949 Q6ZNC8 MBOA1_HUMAN membrane bound O-acyltransferase domain 215 phospholipid biosynthetic process integral to membrane acyltransferase activity 0 all_cancers(95;0.244)|Breast(50;0.0379)|Ovarian(93;0.0473)|all_epithelial(95;0.109) OV - Ovarian serous cystadenocarcinoma(7;0.00392)|all cancers(50;0.0117)|Epithelial(50;0.0454) CTTCATGTGTATATGCTTCCC 0.408 NA OREG0017224 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 4 135 0 0 0 0 C6orf27 80737 broad.mit.edu 37 6 31734251 31734251 + Missense_Mutation SNP C C T TCGA-CQ-5323-01A-01D-1683-08 TCGA-CQ-5323-10A-01D-1683-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 892067ef-c465-46ea-8f91-10636dd0081b 66698a51-908a-483f-8e89-18fca752ec64 g.chr6:31734251C>T uc011dog.1 - 14 2411 c.2173G>A c.(2173-2175)GTC>ATC p.V725I C6orf27_uc003nxd.2_Missense_Mutation_p.V400I NM_025258 NP_079534 Q9Y334 G7C_HUMAN G7c protein precursor 725 extracellular region ovary(3) 3 TCCAGAAGGACAGGGACTACA 0.652 NA 10 4 0 0 0 0 GPR110 266977 broad.mit.edu 37 6 46977694 46977694 + Missense_Mutation SNP C C T TCGA-CQ-5323-01A-01D-1683-08 TCGA-CQ-5323-10A-01D-1683-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 892067ef-c465-46ea-8f91-10636dd0081b 66698a51-908a-483f-8e89-18fca752ec64 g.chr6:46977694C>T uc003oyt.2 - 11 1676 c.1477G>A c.(1477-1479)GTT>ATT p.V493I GPR110_uc011dwl.1_Missense_Mutation_p.V181I NM_153840 NP_722582 Q5T601 GP110_HUMAN G-protein coupled receptor 110 isoform 1 493 Extracellular (Potential). neuropeptide signaling pathway integral to membrane|plasma membrane G-protein coupled receptor activity ovary(2)|pancreas(1) 3 TTTTTGGAAACGGGTAGAATG 0.408 NA 7 67 0 0 0 0 FIG4 9896 broad.mit.edu 37 6 110106193 110106193 + Missense_Mutation SNP C C T TCGA-CQ-5323-01A-01D-1683-08 TCGA-CQ-5323-10A-01D-1683-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 892067ef-c465-46ea-8f91-10636dd0081b 66698a51-908a-483f-8e89-18fca752ec64 g.chr6:110106193C>T uc003ptt.2 + 17 2125 c.1910C>T c.(1909-1911)CCA>CTA p.P637L FIG4_uc011eau.1_Missense_Mutation_p.P360L NM_014845 NP_055660 Q92562 FIG4_HUMAN Sac domain-containing inositol phosphatase 3 637 cell death endosome membrane protein binding ovary(1) 1 all_cancers(87;8.63e-07)|Acute lymphoblastic leukemia(125;2.66e-08)|all_hematologic(75;1.13e-06)|all_epithelial(87;0.000124)|all_lung(197;0.0187)|Colorectal(196;0.0492)|Lung SC(18;0.0548) OV - Ovarian serous cystadenocarcinoma(136;0.0355)|Epithelial(106;0.038)|all cancers(137;0.0425)|BRCA - Breast invasive adenocarcinoma(108;0.079) TGGTGGACACCAGAGGTGATA 0.269 NA 10 90 0 0 0 0 ZNF479 90827 broad.mit.edu 37 7 57187579 57187579 + Missense_Mutation SNP G G A TCGA-CQ-5323-01A-01D-1683-08 TCGA-CQ-5323-10A-01D-1683-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 892067ef-c465-46ea-8f91-10636dd0081b 66698a51-908a-483f-8e89-18fca752ec64 g.chr7:57187579G>A uc010kzo.2 - 5 1814 c.1543C>T c.(1543-1545)CAC>TAC p.H515Y NM_033273 NP_150376 Q96JC4 ZN479_HUMAN zinc finger protein 479 515 C2H2-type 12. regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding ovary(3)|skin(1) 4 GBM - Glioblastoma multiforme(1;9.18e-12) TCTCCAGTGTGAATTATCTTA 0.348 NA 5 20 0 0 0 0 ZNF394 84124 broad.mit.edu 37 7 99097569 99097569 + Missense_Mutation SNP C C T TCGA-CQ-5323-01A-01D-1683-08 TCGA-CQ-5323-10A-01D-1683-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 892067ef-c465-46ea-8f91-10636dd0081b 66698a51-908a-483f-8e89-18fca752ec64 g.chr7:99097569C>T uc003uqs.2 - 1 309 c.148G>A c.(148-150)GAG>AAG p.E50K ZNF394_uc003uqt.2_5'UTR|ZNF394_uc003uqu.1_Missense_Mutation_p.E50K NM_032164 NP_115540 Q53GI3 ZN394_HUMAN zinc finger protein 394 50 viral reproduction nucleus DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding 0 all_cancers(62;2.54e-08)|all_epithelial(64;2.55e-09)|Lung NSC(181;0.0053)|all_lung(186;0.00895)|Esophageal squamous(72;0.0166) TAGTTGGGCTCCCAACTTCCG 0.642 NA 8 57 0 0 0 0 TAS2R16 50833 broad.mit.edu 37 7 122634844 122634844 + Missense_Mutation SNP G G A TCGA-CQ-5323-01A-01D-1683-08 TCGA-CQ-5323-10A-01D-1683-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 892067ef-c465-46ea-8f91-10636dd0081b 66698a51-908a-483f-8e89-18fca752ec64 g.chr7:122634844G>A uc003vkl.1 - 1 911 c.845C>T c.(844-846)ACG>ATG p.T282M NM_016945 NP_058641 Q9NYV7 T2R16_HUMAN taste receptor T2R16 282 Cytoplasmic (Potential). detection of chemical stimulus involved in sensory perception of bitter taste endoplasmic reticulum|external side of plasma membrane|trans-Golgi network bitter taste receptor activity|protein binding ovary(1)|skin(1) 2 CCTTTTCAACGTAGGGCTGCT 0.423 NA 27 109 0 0 0 0 CSMD1 64478 broad.mit.edu 37 8 2976061 2976061 + Missense_Mutation SNP T T C TCGA-CQ-5323-01A-01D-1683-08 TCGA-CQ-5323-10A-01D-1683-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 892067ef-c465-46ea-8f91-10636dd0081b 66698a51-908a-483f-8e89-18fca752ec64 g.chr8:2976061T>C uc011kwk.1 - 42 6683 c.6293A>G c.(6292-6294)TAC>TGC p.Y2098C CSMD1_uc011kwj.1_Missense_Mutation_p.Y1490C|CSMD1_uc010lrg.2_Missense_Mutation_p.Y166C NM_033225 NP_150094 Q96PZ7 CSMD1_HUMAN CUB and Sushi multiple domains 1 precursor 2098 Extracellular (Potential).|Sushi 12. integral to membrane breast(20)|large_intestine(5) 25 all_cancers(1;5.7e-41)|all_epithelial(1;2.54e-36)|Lung NSC(1;7.54e-11)|all_lung(1;3.2e-10)|Hepatocellular(1;3.78e-05)|Breast(1;0.000196)|Myeloproliferative disorder(4;0.000374)|Esophageal squamous(1;0.0157)|Ovarian(12;0.091)|Renal(68;0.144)|Colorectal(14;0.234) all cancers(1;5.03e-41)|Epithelial(1;4.78e-31)|Lung(1;1.14e-14)|LUSC - Lung squamous cell carcinoma(1;2.34e-14)|GBM - Glioblastoma multiforme(1;4.49e-10)|Colorectal(4;1.18e-07)|OV - Ovarian serous cystadenocarcinoma(1;3.2e-07)|BRCA - Breast invasive adenocarcinoma(1;6.17e-07)|COAD - Colon adenocarcinoma(4;0.000539)|READ - Rectum adenocarcinoma(4;0.00896)|Kidney(5;0.00957)|KIRC - Kidney renal clear cell carcinoma(5;0.0689) GTTGATCATGTACCCATTCTG 0.418 NA 22 56 0 0 0 0 PKHD1L1 93035 broad.mit.edu 37 8 110447468 110447468 + Silent SNP C C T TCGA-CQ-5323-01A-01D-1683-08 TCGA-CQ-5323-10A-01D-1683-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 892067ef-c465-46ea-8f91-10636dd0081b 66698a51-908a-483f-8e89-18fca752ec64 g.chr8:110447468C>T uc003yne.2 + 29 3494 c.3390C>T c.(3388-3390)CCC>CCT p.P1130P NM_177531 NP_803875 Q86WI1 PKHL1_HUMAN fibrocystin L precursor 1130 Extracellular (Potential).|IPT/TIG 4. immune response cytosol|extracellular space|integral to membrane receptor activity ovary(9)|central_nervous_system(2)|large_intestine(1)|breast(1)|pancreas(1) 14 OV - Ovarian serous cystadenocarcinoma(57;9.88e-13) GACATGCCCCCGTTGCTGTGT 0.408 NA HNSCC(38;0.096) 55 83 0 0 0 0 LINGO2 158038 broad.mit.edu 37 9 27949442 27949442 + Missense_Mutation SNP G G T TCGA-CQ-5323-01A-01D-1683-08 TCGA-CQ-5323-10A-01D-1683-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 892067ef-c465-46ea-8f91-10636dd0081b 66698a51-908a-483f-8e89-18fca752ec64 g.chr9:27949442G>T uc003zqu.1 - 2 1422 c.1228C>A c.(1228-1230)CCC>ACC p.P410T LINGO2_uc010mjf.1_Missense_Mutation_p.P410T|LINGO2_uc003zqv.1_Missense_Mutation_p.P410T NM_152570 NP_689783 Q7L985 LIGO2_HUMAN leucine rich repeat and Ig domain containing 2 410 Ig-like C2-type.|Extracellular (Potential). integral to membrane upper_aerodigestive_tract(1)|ovary(1)|central_nervous_system(1) 3 Melanoma(11;0.242) all_neural(11;2.78e-09) UCEC - Uterine corpus endometrioid carcinoma (5;0.0818)|GBM - Glioblastoma multiforme(2;1.31e-34)|all cancers(2;2.37e-25)|Lung(2;7.48e-08)|LUSC - Lung squamous cell carcinoma(38;5.09e-07)|KIRC - Kidney renal clear cell carcinoma(2;0.0465)|Kidney(2;0.0604) CGGATTTTGGGTTTTTTGCAG 0.488 NA 12 73 4.37e-10 4.96e-10 1 0 PAX5 5079 broad.mit.edu 37 9 37015016 37015016 + Missense_Mutation SNP G G A TCGA-CQ-5323-01A-01D-1683-08 TCGA-CQ-5323-10A-01D-1683-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 892067ef-c465-46ea-8f91-10636dd0081b 66698a51-908a-483f-8e89-18fca752ec64 g.chr9:37015016G>A uc003zzo.1 - 3 836 c.388C>T c.(388-390)CCT>TCT p.P130S PAX5_uc011lpw.1_Missense_Mutation_p.P130S|PAX5_uc011lpx.1_Intron|PAX5_uc011lpy.1_Missense_Mutation_p.P22S|PAX5_uc010mls.1_Missense_Mutation_p.P130S|PAX5_uc011lpz.1_Missense_Mutation_p.P130S|PAX5_uc011lqa.1_Missense_Mutation_p.P22S|PAX5_uc010mlq.1_RNA|PAX5_uc011lqb.1_RNA|PAX5_uc010mlo.1_Missense_Mutation_p.P130S|PAX5_uc010mlp.1_Missense_Mutation_p.P130S|PAX5_uc011lqc.1_Missense_Mutation_p.P130S|PAX5_uc010mlr.1_Missense_Mutation_p.P130S|PAX5_uc011lqd.1_Intron|PAX5_uc011lqe.1_RNA|PAX5_uc011lqf.1_Intron|PAX5_uc011lqg.1_RNA NM_016734 NP_057953 Q02548 PAX5_HUMAN paired box 5 130 Paired. cell differentiation|humoral immune response|nervous system development|organ morphogenesis|spermatogenesis|transcription from RNA polymerase II promoter nucleus DNA binding p.?(32)|p.N126_P130>RA(1) PAX5/JAK2(18) haematopoietic_and_lymphoid_tissue(142)|lung(3)|central_nervous_system(2) 147 all_cancers(2;3.46e-10)|Acute lymphoblastic leukemia(2;7.09e-56)|all_hematologic(2;6.65e-44) GBM - Glioblastoma multiforme(29;0.0108) CTGACGCTAGGCACGGTGTCA 0.572 NA T|Mis|D|F|S IGH@|ETV6|PML|FOXP1|ZNF521|ELN NHL|ALL|B-ALL 10 161 0 0 0 0 AGTPBP1 23287 broad.mit.edu 37 9 88193977 88193977 + Missense_Mutation SNP G G A TCGA-CQ-5323-01A-01D-1683-08 TCGA-CQ-5323-10A-01D-1683-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 892067ef-c465-46ea-8f91-10636dd0081b 66698a51-908a-483f-8e89-18fca752ec64 g.chr9:88193977G>A uc011ltd.1 - 23 3233 c.3200C>T c.(3199-3201)GCA>GTA p.A1067V AGTPBP1_uc004aod.3_Missense_Mutation_p.A693V|AGTPBP1_uc011ltc.1_Intron|AGTPBP1_uc010mqc.2_Missense_Mutation_p.A1027V|AGTPBP1_uc011lte.1_Missense_Mutation_p.A1079V NM_015239 NP_056054 Q9UPW5 CBPC1_HUMAN ATP/GTP binding protein 1 1067 C-terminal protein deglutamylation|cerebellar Purkinje cell differentiation|eye photoreceptor cell differentiation|mitochondrion organization|neuromuscular process|olfactory bulb development|protein side chain deglutamylation|proteolysis cytosol|mitochondrion|nucleus metallocarboxypeptidase activity|tubulin binding|zinc ion binding ovary(4)|large_intestine(2)|skin(1) 7 CATGCAAAATGCTGGGGCGAT 0.338 NA 44 35 0 0 0 0 FAM75C1 441452 broad.mit.edu 37 9 90538055 90538055 + Missense_Mutation SNP C C T TCGA-CQ-5323-01A-01D-1683-08 TCGA-CQ-5323-10A-01D-1683-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 892067ef-c465-46ea-8f91-10636dd0081b 66698a51-908a-483f-8e89-18fca752ec64 g.chr9:90538055C>T uc010mqi.2 + 4 3262 c.3233C>T c.(3232-3234)GCG>GTG p.A1078V FAM75C1_uc004apq.3_Missense_Mutation_p.A1061V NM_001145124 NP_001138596 family with sequence similarity 75, member C1 0 CTTTGCCATGCGCGCCATGCC 0.527 NA 5 116 0 0 0 0 ROR2 4920 broad.mit.edu 37 9 94486331 94486331 + Silent SNP C C T TCGA-CQ-5323-01A-01D-1683-08 TCGA-CQ-5323-10A-01D-1683-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 892067ef-c465-46ea-8f91-10636dd0081b 66698a51-908a-483f-8e89-18fca752ec64 g.chr9:94486331C>T uc004arj.1 - 9 2644 c.2445G>A c.(2443-2445)CCG>CCA p.P815P ROR2_uc004ari.1_Intron NM_004560 NP_004551 Q01974 ROR2_HUMAN receptor tyrosine kinase-like orphan receptor 2 815 Cytoplasmic (Potential).|Pro-rich. negative regulation of cell proliferation|positive regulation of cell migration|transmembrane receptor protein tyrosine kinase signaling pathway integral to plasma membrane ATP binding|transmembrane receptor protein tyrosine kinase activity|Wnt-protein binding lung(8)|central_nervous_system(5)|ovary(3)|large_intestine(2)|stomach(1)|breast(1) 20 CGTAGAGCTGCGGCGGGGGCA 0.677 NA 8 78 0 0 0 0 ZNF484 83744 broad.mit.edu 37 9 95609543 95609543 + Nonsense_Mutation SNP G G T TCGA-CQ-5323-01A-01D-1683-08 TCGA-CQ-5323-10A-01D-1683-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 892067ef-c465-46ea-8f91-10636dd0081b 66698a51-908a-483f-8e89-18fca752ec64 g.chr9:95609543G>T uc004asu.1 - 5 1675 c.1526C>A c.(1525-1527)TCA>TAA p.S509* ANKRD19_uc004asr.3_Intron|ZNF484_uc011lub.1_Nonsense_Mutation_p.S511*|ZNF484_uc010mrb.1_Nonsense_Mutation_p.S473*|ZNF484_uc004asv.1_Nonsense_Mutation_p.S473* NM_031486 NP_113674 Q5JVG2 ZN484_HUMAN zinc finger protein 484 isoform a 509 C2H2-type 9. regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding 0 AATGAGATTTGACCTGTCAGT 0.393 NA 42 131 2.2e-31 2.58e-31 1 0 GABBR2 9568 broad.mit.edu 37 9 101470780 101470780 + Silent SNP G G A TCGA-CQ-5323-01A-01D-1683-08 TCGA-CQ-5323-10A-01D-1683-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 892067ef-c465-46ea-8f91-10636dd0081b 66698a51-908a-483f-8e89-18fca752ec64 g.chr9:101470780G>A uc004ays.2 - 1 396 c.240C>T c.(238-240)GCC>GCT p.A80A NM_005458 NP_005449 O75899 GABR2_HUMAN G protein-coupled receptor 51 precursor 80 Extracellular (Potential). negative regulation of adenylate cyclase activity|synaptic transmission cell junction|integral to plasma membrane|postsynaptic membrane G-protein coupled receptor activity|GABA-B receptor activity ovary(2)|skin(2) 4 Acute lymphoblastic leukemia(62;0.0527) Baclofen(DB00181) CCAGTTCCACGGCGGGGAGCA 0.627 NA 11 8 0 0 0 0 DBC1 1620 broad.mit.edu 37 9 121930087 121930087 + Missense_Mutation SNP G G A TCGA-CQ-5323-01A-01D-1683-08 TCGA-CQ-5323-10A-01D-1683-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 892067ef-c465-46ea-8f91-10636dd0081b 66698a51-908a-483f-8e89-18fca752ec64 g.chr9:121930087G>A uc004bkc.2 - 8 2017 c.1561C>T c.(1561-1563)CGC>TGC p.R521C NM_014618 NP_055433 O60477 DBC1_HUMAN deleted in bladder cancer 1 precursor 521 cell cycle arrest|cell death cytoplasm protein binding skin(3)|ovary(2)|central_nervous_system(2)|large_intestine(1) 8 ATGCGCTTGCGCCACCGAGGG 0.562 NA 20 28 0 0 0 0 FNBP1 23048 broad.mit.edu 37 9 132740855 132740855 + Silent SNP G G A TCGA-CQ-5323-01A-01D-1683-08 TCGA-CQ-5323-10A-01D-1683-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 892067ef-c465-46ea-8f91-10636dd0081b 66698a51-908a-483f-8e89-18fca752ec64 g.chr9:132740855G>A uc004byw.1 - 4 453 c.234C>T c.(232-234)AAC>AAT p.N78N FNBP1_uc011mbv.1_Silent_p.N78N|FNBP1_uc011mbw.1_Silent_p.N78N|FNBP1_uc004bza.2_Silent_p.N78N|FNBP1_uc004byz.1_Silent_p.N78N|FNBP1_uc004byx.1_Translation_Start_Site|FNBP1_uc004byy.1_Translation_Start_Site NM_015033 NP_055848 Q96RU3 FNBP1_HUMAN formin binding protein 1 78 Interaction with microtubules (By similarity).|Required for self-association and induction of membrane tubulation.|Self-association, lipid-binding and induction of membrane tubulation. endocytosis cell cortex|cytoplasmic membrane-bounded vesicle|cytoskeleton|lysosome|plasma membrane identical protein binding|lipid binding 0 Ovarian(14;0.000536) GBM - Glioblastoma multiforme(294;0.0378) CATTCATTTCGTTCAGGTTGG 0.433 NA T MLL AML 8 49 0 0 0 0 LAMC3 10319 broad.mit.edu 37 9 133907471 133907471 + Missense_Mutation SNP C C T TCGA-CQ-5323-01A-01D-1683-08 TCGA-CQ-5323-10A-01D-1683-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 892067ef-c465-46ea-8f91-10636dd0081b 66698a51-908a-483f-8e89-18fca752ec64 g.chr9:133907471C>T uc004caa.1 + 3 816 c.718C>T c.(718-720)CGG>TGG p.R240W NM_006059 NP_006050 Q9Y6N6 LAMC3_HUMAN laminin, gamma 3 precursor 240 Laminin N-terminal. cell adhesion basement membrane|membrane structural molecule activity ovary(2)|pancreas(1) 3 all_hematologic(7;0.0028) Myeloproliferative disorder(178;0.204) OV - Ovarian serous cystadenocarcinoma(145;5.06e-05)|Epithelial(140;0.000551) CTCTCTAGACCGGCTCAACAC 0.567 NA 10 149 0 0 0 0 PARD3 56288 broad.mit.edu 37 10 34671799 34671808 + Frame_Shift_Del DEL ATGGAACCAA ATGGAACCAA - TCGA-CQ-5323-01A-01D-1683-08 TCGA-CQ-5323-10A-01D-1683-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 892067ef-c465-46ea-8f91-10636dd0081b 66698a51-908a-483f-8e89-18fca752ec64 g.chr10:34671799_34671808delATGGAACCAA uc010qej.1 - 9 1059_1068 c.1059_1068delTTGGTTCCAT c.(1057-1068)ATTTGGTTCCATfs p.I353fs PARD3_uc010qek.1_Frame_Shift_Del_p.I353fs|PARD3_uc010qel.1_Frame_Shift_Del_p.I353fs|PARD3_uc010qem.1_Frame_Shift_Del_p.I353fs|PARD3_uc010qen.1_Frame_Shift_Del_p.I353fs|PARD3_uc010qeo.1_Frame_Shift_Del_p.I353fs|PARD3_uc010qep.1_Frame_Shift_Del_p.I309fs|PARD3_uc010qeq.1_Frame_Shift_Del_p.I309fs|PARD3_uc001ixo.1_Frame_Shift_Del_p.I83fs|PARD3_uc001ixp.1_Frame_Shift_Del_p.I218fs|PARD3_uc001ixq.1_Frame_Shift_Del_p.I353fs|PARD3_uc001ixr.1_Frame_Shift_Del_p.I353fs|PARD3_uc001ixt.1_Frame_Shift_Del_p.I174fs|PARD3_uc001ixu.1_Frame_Shift_Del_p.I309fs|PARD3_uc001ixs.1_Frame_Shift_Del_p.I6fs NM_019619 NP_062565 Q8TEW0 PARD3_HUMAN partitioning-defective protein 3 homolog 353_356 PDZ 1. activation of protein kinase C activity by G-protein coupled receptor protein signaling pathway|asymmetric cell division|axonogenesis|cell cycle|establishment of epithelial cell polarity|protein complex assembly|protein targeting to membrane|tight junction assembly cell cortex|cytoskeleton|cytosol|endomembrane system|tight junction phosphatidylinositol-3,4,5-trisphosphate binding|phosphatidylinositol-3-phosphate binding|phosphatidylinositol-4,5-bisphosphate binding|protein binding ovary(1) 1 Breast(68;0.0707) CAGGAACCACATGGAACCAAATGATGGGTG 0.4 NA 36 96 --- --- --- --- NA NA NA NA CD163 9332 broad.mit.edu 37 12 7636068 7636069 + Frame_Shift_Ins INS - - A TCGA-CQ-5323-01A-01D-1683-08 TCGA-CQ-5323-10A-01D-1683-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 892067ef-c465-46ea-8f91-10636dd0081b 66698a51-908a-483f-8e89-18fca752ec64 g.chr12:7636068_7636069insA uc001qsz.3 - 12 3110_3111 c.2982_2983insT c.(2980-2985)AATGAAfs p.N994fs CD163_uc001qta.3_Frame_Shift_Ins_p.N994fs|CD163_uc009zfw.2_Frame_Shift_Ins_p.N1027fs NM_004244 NP_004235 Q86VB7 C163A_HUMAN CD163 antigen isoform a 994_995 SRCR 9.|Extracellular (Potential). acute-phase response extracellular region|integral to plasma membrane protein binding|scavenger receptor activity ovary(6)|pancreas(1)|skin(1) 8 CACTTCACTTCATTGAGCCATA 0.515 NA 25 48 --- --- --- --- NA NA NA NA KRT5 3852 broad.mit.edu 37 12 52911893 52911894 + Frame_Shift_Ins INS - - A TCGA-CQ-5323-01A-01D-1683-08 TCGA-CQ-5323-10A-01D-1683-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 892067ef-c465-46ea-8f91-10636dd0081b 66698a51-908a-483f-8e89-18fca752ec64 g.chr12:52911893_52911894insA uc001san.2 - 3 987_988 c.824_825insT c.(823-825)CTGfs p.L275fs KRT5_uc009zmh.2_Frame_Shift_Ins_p.L275fs NM_000424 NP_000415 P13647 K2C5_HUMAN keratin 5 275 Rod.|Coil 1B. epidermis development|hemidesmosome assembly cytosol|keratin filament protein binding|structural constituent of cytoskeleton 0 BRCA - Breast invasive adenocarcinoma(357;0.189) GCACCTTCTTCAGCATCACAAA 0.52 NA 93 158 --- --- --- --- NA NA NA NA GPR17 2840 broad.mit.edu 37 2 128409269 128409270 + Frame_Shift_Ins INS - - C TCGA-CQ-5323-01A-01D-1683-08 TCGA-CQ-5323-10A-01D-1683-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 892067ef-c465-46ea-8f91-10636dd0081b 66698a51-908a-483f-8e89-18fca752ec64 g.chr2:128409269_128409270insC uc010yzn.1 + 4 1655_1656 c.1044_1045insC c.(1042-1047)CCGCCCfs p.P348fs LIMS2_uc002tox.2_Intron|LIMS2_uc010fmb.2_Intron|LIMS2_uc002toy.2_Intron|LIMS2_uc010yzm.1_Intron|LIMS2_uc002tpa.2_Intron|LIMS2_uc002toz.2_Intron|LIMS2_uc002tpb.2_Intron|GPR17_uc002tpc.2_Frame_Shift_Ins_p.P348fs|GPR17_uc010yzo.1_Frame_Shift_Ins_p.P320fs|GPR17_uc002tpd.2_Frame_Shift_Ins_p.P320fs NM_001161415 NP_001154887 Q13304 GPR17_HUMAN G protein-coupled receptor 17 isoform a 348_349 Cytoplasmic (Potential). integral to plasma membrane chemokine receptor activity|purinergic nucleotide receptor activity, G-protein coupled 0 Colorectal(110;0.1) Ovarian(717;0.15) BRCA - Breast invasive adenocarcinoma(221;0.0677) TCAAGGGCCCGCCCCCCAGCTT 0.619 NA 34 65 --- --- --- --- NA NA NA NA SFRS15 57466 broad.mit.edu 37 21 33063194 33063194 + Frame_Shift_Del DEL A A - TCGA-CQ-5323-01A-01D-1683-08 TCGA-CQ-5323-10A-01D-1683-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 892067ef-c465-46ea-8f91-10636dd0081b 66698a51-908a-483f-8e89-18fca752ec64 g.chr21:33063194delA uc002ypd.2 - 15 2227 c.1801delT c.(1801-1803)TATfs p.Y601fs SFRS15_uc002ype.2_Frame_Shift_Del_p.Y601fs|SFRS15_uc010glu.2_Frame_Shift_Del_p.Y586fs|SFRS15_uc002ypf.1_Frame_Shift_Del_p.Y275fs NM_020706 NP_065757 O95104 SFR15_HUMAN splicing factor, arginine/serine-rich 15 isoform 601 nucleus nucleotide binding|RNA binding 0 CATGGAATATAAGTAACACCA 0.378 NA 25 73 --- --- --- --- NA NA NA NA TBC1D10A 83874 broad.mit.edu 37 22 30688485 30688498 + Frame_Shift_Del DEL ACATGCTGTGGGGG ACATGCTGTGGGGG - rs61730760 byFrequency TCGA-CQ-5323-01A-01D-1683-08 TCGA-CQ-5323-10A-01D-1683-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 892067ef-c465-46ea-8f91-10636dd0081b 66698a51-908a-483f-8e89-18fca752ec64 g.chr22:30688485_30688498delACATGCTGTGGGGG uc011akt.1 - 11 1417_1430 c.1393_1406delCCCCCACAGCATGT c.(1393-1407)CCCCCACAGCATGTGfs p.P465fs GATSL3_uc003ahc.2_5'Flank|GATSL3_uc003ahe.2_5'Flank|GATSL3_uc003ahd.2_5'Flank|GATSL3_uc003ahf.2_Intron|GATSL3_uc003ahg.2_Intron|GATSL3_uc003ahh.2_Intron|GATSL3_uc010gvq.2_Intron|GATSL3_uc003ahi.2_Intron|GATSL3_uc010gvr.2_5'Flank|GATSL3_uc010gvs.2_5'Flank|TBC1D10A_uc003ahj.3_Frame_Shift_Del_p.P377fs|TBC1D10A_uc010gvu.2_Frame_Shift_Del_p.P472fs|TBC1D10A_uc003ahk.3_Frame_Shift_Del_p.P465fs NM_031937 NP_114143 Q9BXI6 TB10A_HUMAN TBC1 domain family, member 10A 465_469 intracellular|microvillus guanyl-nucleotide exchange factor activity|PDZ domain binding|Rab GTPase activator activity ovary(1) 1 CTTCGGGGGCACATGCTGTGGGGGACATGCATCT 0.636 NA 13 194 --- --- --- --- NA NA NA NA