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 SPEN 23013 broad.mit.edu 37 1 16254612 16254612 + Missense_Mutation SNP A A G TCGA-CV-6956-01A-21D-2012-08 TCGA-CV-6956-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 9ccee056-124e-40d5-a07d-c208765d8640 d28213c6-eb6f-4348-aca4-6f384a3b6d71 g.chr1:16254612A>G uc001axk.1 + 11 2081 c.1877A>G c.(1876-1878)TAT>TGT p.Y626C SPEN_uc010obp.1_Missense_Mutation_p.Y585C NM_015001 NP_055816 Q96T58 MINT_HUMAN spen homolog, transcriptional regulator 626 Arg-rich.|Tyr-rich. interspecies interaction between organisms|negative regulation of transcription, DNA-dependent|Notch signaling pathway nucleus nucleotide binding|protein binding|RNA binding ovary(6)|breast(3)|lung(2)|skin(2)|upper_aerodigestive_tract(1)|central_nervous_system(1) 15 Colorectal(325;0.000258)|Breast(348;0.000278)|Lung NSC(340;0.000419)|Renal(390;0.000518)|all_lung(284;0.000567)|Ovarian(437;0.0129)|Myeloproliferative disorder(586;0.0255) UCEC - Uterine corpus endometrioid carcinoma (279;0.0185)|Colorectal(212;5.96e-07)|COAD - Colon adenocarcinoma(227;3.11e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000115)|Kidney(64;0.000212)|KIRC - Kidney renal clear cell carcinoma(64;0.003)|STAD - Stomach adenocarcinoma(313;0.013)|READ - Rectum adenocarcinoma(331;0.0681) TCCTACGACTATAACCAAGAT 0.398 NA 19 24 0 0 0 0 LAPTM5 7805 broad.mit.edu 37 1 31210496 31210496 + Missense_Mutation SNP C C A TCGA-CV-6956-01A-21D-2012-08 TCGA-CV-6956-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 9ccee056-124e-40d5-a07d-c208765d8640 d28213c6-eb6f-4348-aca4-6f384a3b6d71 g.chr1:31210496C>A uc001bsc.2 - 6 652 c.561G>T c.(559-561)ATG>ATT p.M187I NM_006762 NP_006753 Q13571 LAPM5_HUMAN lysosomal protein transmembrane 5 187 Helical; (Potential). transport integral to plasma membrane|lysosomal membrane 0 Colorectal(325;0.0199)|Myeloproliferative disorder(586;0.0393)|all_neural(195;0.0966)|Medulloblastoma(700;0.151)|Ovarian(437;0.192) STAD - Stomach adenocarcinoma(196;0.0196)|READ - Rectum adenocarcinoma(331;0.0649) AGATGATCATCATCTTGATGA 0.522 NA 23 45 7.08e-08 7.76e-08 1 0 EIF2C1 26523 broad.mit.edu 37 1 36372612 36372612 + Missense_Mutation SNP T T G TCGA-CV-6956-01A-21D-2012-08 TCGA-CV-6956-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 9ccee056-124e-40d5-a07d-c208765d8640 d28213c6-eb6f-4348-aca4-6f384a3b6d71 g.chr1:36372612T>G uc001bzl.2 + 12 1687 c.1474T>G c.(1474-1476)TAT>GAT p.Y492D EIF2C1_uc001bzk.2_Missense_Mutation_p.Y417D|EIF2C1_uc009vuy.2_RNA NM_012199 NP_036331 Q9UL18 AGO1_HUMAN eukaryotic translation initiation factor 2C, 1 492 negative regulation of translation involved in gene silencing by miRNA|nuclear-transcribed mRNA catabolic process|regulation of transcription, DNA-dependent|transcription, DNA-dependent cytoplasmic mRNA processing body|cytosol|micro-ribonucleoprotein complex|polysome protein binding|RNA binding ovary(2)|skin(1) 3 Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0887) TTTCTGCAAATATGCACAGGG 0.537 NA 37 52 0 0 0 0 C1orf168 199920 broad.mit.edu 37 1 57257988 57257988 + Silent SNP G G T TCGA-CV-6956-01A-21D-2012-08 TCGA-CV-6956-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 9ccee056-124e-40d5-a07d-c208765d8640 d28213c6-eb6f-4348-aca4-6f384a3b6d71 g.chr1:57257988G>T uc001cym.3 - 2 904 c.498C>A c.(496-498)GCC>GCA p.A166A C1orf168_uc009vzu.1_RNA|C1orf168_uc009vzv.1_Silent_p.A166A NM_001004303 NP_001004303 Q5VWT5 CA168_HUMAN hypothetical protein LOC199920 166 ovary(3)|skin(2) 5 CCAGATGGATGGCCTTACTTC 0.483 NA 37 62 1.84e-18 2.14e-18 1 0 MCOLN3 55283 broad.mit.edu 37 1 85491754 85491754 + Missense_Mutation SNP G G T TCGA-CV-6956-01A-21D-2012-08 TCGA-CV-6956-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 9ccee056-124e-40d5-a07d-c208765d8640 d28213c6-eb6f-4348-aca4-6f384a3b6d71 g.chr1:85491754G>T uc001dkp.2 - 9 1056 c.963C>A c.(961-963)TTC>TTA p.F321L MCOLN3_uc001dko.2_5'Flank|MCOLN3_uc001dkq.2_Missense_Mutation_p.F265L|MCOLN3_uc001dkr.2_3'UTR|MCOLN3_uc001dks.3_Missense_Mutation_p.F166L NM_018298 NP_060768 Q8TDD5 MCLN3_HUMAN mucolipin 3 321 integral to membrane ion channel activity skin(1) 1 all cancers(265;0.00957)|Epithelial(280;0.0254) AATGGAGGAGGAAAAAATTGA 0.363 NA 10 16 2.81e-09 3.1e-09 1 0 DPYD 1806 broad.mit.edu 37 1 97915726 97915726 + Silent SNP G G C TCGA-CV-6956-01A-21D-2012-08 TCGA-CV-6956-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 9ccee056-124e-40d5-a07d-c208765d8640 d28213c6-eb6f-4348-aca4-6f384a3b6d71 g.chr1:97915726G>C uc001drv.2 - 14 1931 c.1794C>G c.(1792-1794)CCC>CCG p.P598P NM_000110 NP_000101 Q12882 DPYD_HUMAN dihydropyrimidine dehydrogenase isoform 1 598 'de novo' pyrimidine base biosynthetic process|purine base catabolic process|thymidine catabolic process|thymine catabolic process|UMP biosynthetic process|uracil catabolic process cytosol 4 iron, 4 sulfur cluster binding|dihydroorotate oxidase activity|dihydropyrimidine dehydrogenase (NADP+) activity|electron carrier activity|flavin adenine dinucleotide binding|metal ion binding|NADP binding|protein homodimerization activity ovary(3)|skin(3)|breast(2) 8 all_epithelial(167;0.000185)|all_lung(203;0.00318)|Lung NSC(277;0.00994) Colorectal(170;0.0165)|Epithelial(280;0.0526)|all cancers(265;0.104)|READ - Rectum adenocarcinoma(84;0.171)|Lung(183;0.216) Capecitabine(DB01101)|Enfuvirtide(DB00109) GGCCATACATGGGGCCAGAGG 0.448 NA 28 52 0 0 0 0 TARS2 80222 broad.mit.edu 37 1 150478094 150478094 + Missense_Mutation SNP C C A TCGA-CV-6956-01A-21D-2012-08 TCGA-CV-6956-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 9ccee056-124e-40d5-a07d-c208765d8640 d28213c6-eb6f-4348-aca4-6f384a3b6d71 g.chr1:150478094C>A uc001euq.2 + 17 1928 c.1921C>A c.(1921-1923)CTG>ATG p.L641M TARS2_uc001eur.2_Missense_Mutation_p.L559M|TARS2_uc009wlt.2_Missense_Mutation_p.L267M|TARS2_uc009wls.2_Missense_Mutation_p.L511M|ECM1_uc010pce.1_5'Flank|ECM1_uc010pcf.1_5'Flank|ECM1_uc001eus.2_5'Flank|ECM1_uc001eut.2_5'Flank|ECM1_uc001euu.2_5'Flank|ECM1_uc001euv.2_5'Flank|ECM1_uc009wlu.2_5'Flank NM_025150 NP_079426 Q9BW92 SYTM_HUMAN threonyl-tRNA synthetase 2, mitochondrial 641 threonyl-tRNA aminoacylation mitochondrial matrix ATP binding|threonine-tRNA ligase activity ovary(1) 1 all_cancers(9;3.13e-53)|all_epithelial(9;3.74e-43)|all_lung(15;2.43e-34)|Lung NSC(24;8.86e-31)|Breast(34;0.000326)|Lung SC(34;0.00471)|Ovarian(49;0.0167)|all_hematologic(923;0.0395)|Hepatocellular(266;0.108)|Melanoma(130;0.128)|Colorectal(459;0.171) UCEC - Uterine corpus endometrioid carcinoma (35;0.0757)|all cancers(9;1.51e-21)|BRCA - Breast invasive adenocarcinoma(12;0.000734)|LUSC - Lung squamous cell carcinoma(543;0.171)|STAD - Stomach adenocarcinoma(528;0.206) L-Threonine(DB00156) GGCTGCAGGACTGGTCAGTGA 0.527 NA 42 69 4.03e-16 4.66e-16 1 0 VPS72 6944 broad.mit.edu 37 1 151150569 151150569 + Silent SNP C C T TCGA-CV-6956-01A-21D-2012-08 TCGA-CV-6956-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 9ccee056-124e-40d5-a07d-c208765d8640 d28213c6-eb6f-4348-aca4-6f384a3b6d71 g.chr1:151150569C>T uc001exe.1 - 5 658 c.615G>A c.(613-615)CGG>CGA p.R205R TMOD4_uc001exd.2_5'Flank|TMOD4_uc001exc.3_5'Flank|TMOD4_uc010pct.1_5'Flank|VPS72_uc001exf.1_Silent_p.R205R NM_005997 NP_005988 Q15906 VPS72_HUMAN transcription factor-like 1 205 Potential. chromatin modification|negative regulation of transcription from RNA polymerase II promoter nucleus|protein complex DNA binding|sequence-specific DNA binding transcription factor activity breast(1)|pancreas(1) 2 Lung SC(34;0.00471)|Ovarian(49;0.0147)|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) CGGGGCACTTCCGCTTCTTAT 0.493 NA 19 57 0 0 0 0 FAM189B 10712 broad.mit.edu 37 1 155223908 155223908 + Silent SNP A A T TCGA-CV-6956-01A-21D-2012-08 TCGA-CV-6956-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 9ccee056-124e-40d5-a07d-c208765d8640 d28213c6-eb6f-4348-aca4-6f384a3b6d71 g.chr1:155223908A>T uc001fjm.2 - 3 966 c.360T>A c.(358-360)GCT>GCA p.A120A RAG1AP1_uc010pey.1_Intron|FAM189B_uc009wql.2_5'Flank|FAM189B_uc001fjn.2_Intron|FAM189B_uc001fjo.2_Silent_p.A101A|FAM189B_uc001fjp.2_Intron|FAM189B_uc001fjq.1_Silent_p.A120A NM_006589 NP_006580 P81408 F189B_HUMAN hypothetical protein LOC10712 isoform a 120 integral to membrane WW domain binding ovary(1)|breast(1) 2 GGGCCAGTTGAGCATTCTTAC 0.532 NA 83 111 0 0 0 0 SLAMF6 114836 broad.mit.edu 37 1 160466073 160466073 + Missense_Mutation SNP T T G TCGA-CV-6956-01A-21D-2012-08 TCGA-CV-6956-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 9ccee056-124e-40d5-a07d-c208765d8640 d28213c6-eb6f-4348-aca4-6f384a3b6d71 g.chr1:160466073T>G uc001fwe.1 - 2 220 c.160A>C c.(160-162)ACT>CCT p.T54P SLAMF6_uc001fwd.1_Missense_Mutation_p.T54P|SLAMF6_uc010pjh.1_Intron|SLAMF6_uc010pji.1_Intron|SLAMF6_uc010pjj.1_Intron|SLAMF6_uc009wtm.1_Intron NM_052931 NP_443163 Q96DU3 SLAF6_HUMAN activating NK receptor precursor 54 Extracellular (Potential). integral to membrane|plasma membrane receptor activity ovary(1)|skin(1) 2 all_cancers(52;1.05e-18)|all_hematologic(112;0.093) BRCA - Breast invasive adenocarcinoma(70;0.0923) AAAAGCCAAGTGATGAAGTTG 0.463 NA 48 135 0 0 0 0 SELP 6403 broad.mit.edu 37 1 169576215 169576215 + Missense_Mutation SNP G G C TCGA-CV-6956-01A-21D-2012-08 TCGA-CV-6956-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 9ccee056-124e-40d5-a07d-c208765d8640 d28213c6-eb6f-4348-aca4-6f384a3b6d71 g.chr1:169576215G>C uc001ggi.3 - 9 1556 c.1491C>G c.(1489-1491)AAC>AAG p.N497K SELP_uc001ggh.2_Missense_Mutation_p.N332K|SELP_uc009wvr.2_Missense_Mutation_p.N497K NM_003005 NP_002996 P16109 LYAM3_HUMAN selectin P precursor 497 Extracellular (Potential).|Sushi 5. platelet activation|platelet degranulation|positive regulation of platelet activation external side of plasma membrane|extracellular space|integral to plasma membrane|membrane fraction|platelet alpha granule membrane|platelet dense granule membrane|soluble fraction fucose binding|glycosphingolipid binding|heparin binding|lipopolysaccharide binding|oligosaccharide binding|sialic acid binding ovary(2)|skin(2) 4 all_hematologic(923;0.208) Clopidogrel(DB00758)|Heparin(DB01109)|Tirofiban(DB00775) CAGAATTCCAGTTTCCAGTAG 0.453 NA 38 40 0 0 0 0 SMG7 9887 broad.mit.edu 37 1 183518407 183518407 + Missense_Mutation SNP G G T TCGA-CV-6956-01A-21D-2012-08 TCGA-CV-6956-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 9ccee056-124e-40d5-a07d-c208765d8640 d28213c6-eb6f-4348-aca4-6f384a3b6d71 g.chr1:183518407G>T uc001gqg.2 + 18 2929 c.2807G>T c.(2806-2808)GGA>GTA p.G936V SMG7_uc001gqf.2_Missense_Mutation_p.G940V|SMG7_uc001gqh.2_Missense_Mutation_p.G890V|SMG7_uc001gqi.2_Missense_Mutation_p.G848V|SMG7_uc010poc.1_Missense_Mutation_p.G944V NM_173156 NP_775179 Q92540 SMG7_HUMAN SMG-7 homolog isoform 1 936 Ser-rich. mRNA export from nucleus|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay|regulation of dephosphorylation cytoplasm|intermediate filament cytoskeleton|nucleus protein phosphatase 2A binding upper_aerodigestive_tract(1)|central_nervous_system(1)|skin(1) 3 TCCCTCACCGGATTCTCTCTC 0.403 NA 18 26 0.000132079 0.000139008 1 0 CR1 1378 broad.mit.edu 37 1 207760880 207760880 + Missense_Mutation SNP G G A TCGA-CV-6956-01A-21D-2012-08 TCGA-CV-6956-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 9ccee056-124e-40d5-a07d-c208765d8640 d28213c6-eb6f-4348-aca4-6f384a3b6d71 g.chr1:207760880G>A uc001hfy.2 + 26 4470 c.4330G>A c.(4330-4332)GTC>ATC p.V1444I CR1_uc009xcl.1_Missense_Mutation_p.V994I|CR1_uc001hfx.2_Missense_Mutation_p.V1894I NM_000573 NP_000564 P17927 CR1_HUMAN complement receptor 1 isoform F precursor 1444 Sushi 22.|Extracellular (Potential). complement activation, classical pathway|innate immune response integral to plasma membrane complement receptor activity ovary(3) 3 AGAAAACTTGGTCTGGTCAAG 0.388 NA 45 81 0 0 0 0 CD34 947 broad.mit.edu 37 1 208072364 208072364 + Missense_Mutation SNP G G A TCGA-CV-6956-01A-21D-2012-08 TCGA-CV-6956-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 9ccee056-124e-40d5-a07d-c208765d8640 d28213c6-eb6f-4348-aca4-6f384a3b6d71 g.chr1:208072364G>A uc001hgw.1 - 3 728 c.470C>T c.(469-471)CCC>CTC p.P157L CD34_uc001hgx.1_Missense_Mutation_p.P157L|CD34_uc010psj.1_Intron NM_001025109 NP_001020280 P28906 CD34_HUMAN CD34 antigen isoform a 157 Extracellular (Potential). cell-cell adhesion|leukocyte migration|regulation of immune response integral to membrane carbohydrate binding ovary(1) 1 GGGTTTAGTGGGAGATGTTGC 0.468 NA 78 185 0 0 0 0 SLC30A1 7779 broad.mit.edu 37 1 211751730 211751730 + Silent SNP G G A TCGA-CV-6956-01A-21D-2012-08 TCGA-CV-6956-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 9ccee056-124e-40d5-a07d-c208765d8640 d28213c6-eb6f-4348-aca4-6f384a3b6d71 g.chr1:211751730G>A uc001hio.1 - 1 370 c.225C>T c.(223-225)ATC>ATT p.I75I NM_021194 NP_067017 Q9Y6M5 ZNT1_HUMAN solute carrier family 30 (zinc transporter), 75 Cytoplasmic (Potential). cadmium ion transmembrane transport|cellular calcium ion homeostasis|cellular zinc ion homeostasis|negative regulation of calcium ion import|negative regulation of neurotransmitter secretion|negative regulation of zinc ion import integral to membrane|T-tubule calcium channel inhibitor activity|zinc ion transmembrane transporter activity ovary(3)|central_nervous_system(1) 4 OV - Ovarian serous cystadenocarcinoma(81;0.00535)|GBM - Glioblastoma multiforme(131;0.051)|all cancers(67;0.0604)|Epithelial(68;0.0978) CCTCGGCTCGGATCCAGCCGA 0.662 NA 16 20 0 0 0 0 AIDA 64853 broad.mit.edu 37 1 222843263 222843263 + Missense_Mutation SNP T T C TCGA-CV-6956-01A-21D-2012-08 TCGA-CV-6956-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 9ccee056-124e-40d5-a07d-c208765d8640 d28213c6-eb6f-4348-aca4-6f384a3b6d71 g.chr1:222843263T>C uc001hnn.2 - 10 1098 c.893A>G c.(892-894)CAT>CGT p.H298R AIDA_uc001hno.2_RNA|AIDA_uc010pus.1_Missense_Mutation_p.H274R NM_022831 NP_073742 Q96BJ3 AIDA_HUMAN axin interactor, dorsalization associated 298 dorsal/ventral pattern formation|negative regulation of JNK cascade|negative regulation of JUN kinase activity|regulation of protein homodimerization activity 0 TTGATGTAGATGAAGATAAAG 0.353 NA 18 31 0 0 0 0 ZNF678 339500 broad.mit.edu 37 1 227842404 227842404 + Silent SNP A A G TCGA-CV-6956-01A-21D-2012-08 TCGA-CV-6956-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 9ccee056-124e-40d5-a07d-c208765d8640 d28213c6-eb6f-4348-aca4-6f384a3b6d71 g.chr1:227842404A>G uc001hqw.1 + 4 798 c.453A>G c.(451-453)AAA>AAG p.K151K ZNF678_uc009xet.1_Intron|ZNF678_uc009xeu.1_Intron NM_178549 NP_848644 F5GXA7 F5GXA7_HUMAN zinc finger protein 678 206 regulation of transcription, DNA-dependent intracellular nucleic acid binding|zinc ion binding pancreas(1) 1 Prostate(94;0.0885) CTGGAGAGAAACCCTACAAAT 0.353 NA 26 78 0 0 0 0 RYR2 6262 broad.mit.edu 37 1 237802492 237802492 + Missense_Mutation SNP G G T TCGA-CV-6956-01A-21D-2012-08 TCGA-CV-6956-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 9ccee056-124e-40d5-a07d-c208765d8640 d28213c6-eb6f-4348-aca4-6f384a3b6d71 g.chr1:237802492G>T uc001hyl.1 + 46 7226 c.7106G>T c.(7105-7107)AGT>ATT p.S2369I NM_001035 NP_001026 Q92736 RYR2_HUMAN cardiac muscle ryanodine receptor 2369 Cytoplasmic (By similarity).|4 X approximate repeats. cardiac muscle contraction|detection of calcium ion|induction of apoptosis by ionic changes|regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion|release of sequestered calcium ion into cytosol by sarcoplasmic reticulum|response to caffeine|response to hypoxia|response to redox state calcium channel complex|cytosol|plasma membrane|plasma membrane enriched fraction|sarcoplasmic reticulum membrane calcium ion binding|calmodulin binding|identical protein binding|protein kinase A catalytic subunit binding|protein kinase A regulatory subunit binding|receptor activity|ryanodine-sensitive calcium-release channel activity|suramin binding ovary(17)|large_intestine(6)|central_nervous_system(6)|pancreas(3)|breast(1) 33 Ovarian(103;0.103) all_cancers(173;0.000368)|Melanoma(53;0.0179)|all_epithelial(177;0.0225) OV - Ovarian serous cystadenocarcinoma(106;0.00606) AGCGGATCCAGTAAAACACTG 0.418 NA 7 20 2.01e-06 2.16e-06 1 0 ITGA8 8516 broad.mit.edu 37 10 15726024 15726024 + Nonsense_Mutation SNP C C A TCGA-CV-6956-01A-21D-2012-08 TCGA-CV-6956-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 9ccee056-124e-40d5-a07d-c208765d8640 d28213c6-eb6f-4348-aca4-6f384a3b6d71 g.chr10:15726024C>A uc001ioc.1 - 4 547 c.547G>T c.(547-549)GAG>TAG p.E183* ITGA8_uc010qcb.1_Nonsense_Mutation_p.E183* NM_003638 NP_003629 P53708 ITA8_HUMAN integrin, alpha 8 precursor 183 Extracellular (Potential).|FG-GAP 2. cell differentiation|cell-cell adhesion|cell-matrix adhesion|integrin-mediated signaling pathway|nervous system development integrin complex receptor activity ovary(3)|lung(3) 6 GGAGAGAACTCGGCATAGGCG 0.458 NA 16 42 3.46e-05 3.68e-05 1 0 C10orf140 387640 broad.mit.edu 37 10 21804965 21804965 + Missense_Mutation SNP C C G TCGA-CV-6956-01A-21D-2012-08 TCGA-CV-6956-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 9ccee056-124e-40d5-a07d-c208765d8640 d28213c6-eb6f-4348-aca4-6f384a3b6d71 g.chr10:21804965C>G uc009xkd.2 - 4 4040 c.1787G>C c.(1786-1788)CGA>CCA p.R596P uc001iqp.1_Intron NM_207371 NP_997254 Q1XH10 DLN1_HUMAN hypothetical protein LOC387640 515 nucleus nucleotide binding ovary(1) 1 CCTAGCCTCTCGGAGTATTCT 0.438 NA 16 81 0 0 0 0 ANKRD26 22852 broad.mit.edu 37 10 27366291 27366291 + Silent SNP C C T TCGA-CV-6956-01A-21D-2012-08 TCGA-CV-6956-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 9ccee056-124e-40d5-a07d-c208765d8640 d28213c6-eb6f-4348-aca4-6f384a3b6d71 g.chr10:27366291C>T uc001ith.2 - 9 1225 c.1053G>A c.(1051-1053)TCG>TCA p.S351S ANKRD26_uc001itg.2_Silent_p.S70S|ANKRD26_uc009xku.1_Silent_p.S351S NM_014915 NP_055730 Q9UPS8 ANR26_HUMAN ankyrin repeat domain 26 351 centrosome large_intestine(1)|haematopoietic_and_lymphoid_tissue(1)|ovary(1)|skin(1) 4 GGTTTGCTAACGACTTGTGGG 0.383 NA 38 58 0 0 0 0 ARMC4 55130 broad.mit.edu 37 10 28196653 28196653 + Missense_Mutation SNP G G A TCGA-CV-6956-01A-21D-2012-08 TCGA-CV-6956-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 9ccee056-124e-40d5-a07d-c208765d8640 d28213c6-eb6f-4348-aca4-6f384a3b6d71 g.chr10:28196653G>A uc009xky.2 - 17 2647 c.2549C>T c.(2548-2550)CCT>CTT p.P850L ARMC4_uc010qds.1_Missense_Mutation_p.P375L|ARMC4_uc010qdt.1_Missense_Mutation_p.P542L|ARMC4_uc001itz.2_Missense_Mutation_p.P850L NM_018076 NP_060546 Q5T2S8 ARMC4_HUMAN armadillo repeat containing 4 850 ARM 6. binding ovary(4)|skin(2) 6 GTCTGGGTGAGGATTTTTCAG 0.443 NA 18 40 0 0 0 0 CSGALNACT2 55454 broad.mit.edu 37 10 43650762 43650762 + Silent SNP G G A TCGA-CV-6956-01A-21D-2012-08 TCGA-CV-6956-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 9ccee056-124e-40d5-a07d-c208765d8640 d28213c6-eb6f-4348-aca4-6f384a3b6d71 g.chr10:43650762G>A uc001jan.2 + 2 500 c.165G>A c.(163-165)GAG>GAA p.E55E CSGALNACT2_uc001jam.1_Silent_p.E55E NM_018590 NP_061060 Q8N6G5 CGAT2_HUMAN chondroitin sulfate 55 Lumenal (Potential). chondroitin sulfate proteoglycan biosynthetic process, polysaccharide chain biosynthetic process|dermatan sulfate proteoglycan biosynthetic process, polysaccharide chain biosynthetic process Golgi cisterna membrane|integral to Golgi membrane glucuronylgalactosylproteoglycan 4-beta-N-acetylgalactosaminyltransferase activity|metal ion binding ovary(1) 1 ATGGTAAAGAGTATTATCAAG 0.418 NA 15 44 0 0 0 0 GPRIN2 9721 broad.mit.edu 37 10 46999149 46999149 + Missense_Mutation SNP G G C TCGA-CV-6956-01A-21D-2012-08 TCGA-CV-6956-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 9ccee056-124e-40d5-a07d-c208765d8640 d28213c6-eb6f-4348-aca4-6f384a3b6d71 g.chr10:46999149G>C uc001jec.2 + 3 404 c.269G>C c.(268-270)TGG>TCG p.W90S GPRIN2_uc010qfq.1_5'Flank NM_014696 NP_055511 O60269 GRIN2_HUMAN G protein-regulated inducer of neurite outgrowth 90 0 GGAGGCCACTGGTGGAGCAGC 0.667 NA 9 58 0 0 0 0 SUPV3L1 6832 broad.mit.edu 37 10 70962246 70962246 + Missense_Mutation SNP C C G TCGA-CV-6956-01A-21D-2012-08 TCGA-CV-6956-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 9ccee056-124e-40d5-a07d-c208765d8640 d28213c6-eb6f-4348-aca4-6f384a3b6d71 g.chr10:70962246C>G uc001jpe.1 + 12 1625 c.1570C>G c.(1570-1572)CTC>GTC p.L524V SUPV3L1_uc010qjd.1_Missense_Mutation_p.L393V NM_003171 NP_003162 Q8IYB8 SUV3_HUMAN suppressor of var1, 3-like 1 precursor 524 DNA duplex unwinding mitochondrial nucleoid|nucleus ATP binding|DNA binding|DNA helicase activity|RNA binding urinary_tract(1)|ovary(1) 2 TGCCTACCATCTCCCTGATGC 0.373 NA 23 53 0 0 0 0 HTR7 3363 broad.mit.edu 37 10 92509226 92509226 + Missense_Mutation SNP G G C TCGA-CV-6956-01A-21D-2012-08 TCGA-CV-6956-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 9ccee056-124e-40d5-a07d-c208765d8640 d28213c6-eb6f-4348-aca4-6f384a3b6d71 g.chr10:92509226G>C uc001kha.2 - 2 908 c.665C>G c.(664-666)GCT>GGT p.A222G HTR7_uc001kgz.2_Missense_Mutation_p.A222G|HTR7_uc001khb.2_Missense_Mutation_p.A222G NM_019859 NP_062873 P34969 5HT7R_HUMAN 5-hydroxytryptamine receptor 7 isoform d 222 Helical; Name=4; (By similarity). blood circulation|circadian rhythm integral to plasma membrane protein binding|serotonin receptor activity ovary(1) 1 Eletriptan(DB00216)|Methysergide(DB00247)|Ziprasidone(DB00246) TACATTCTGAGCCCATCCAAA 0.483 NA 40 58 0 0 0 0 CASP7 840 broad.mit.edu 37 10 115481445 115481445 + Missense_Mutation SNP G G A TCGA-CV-6956-01A-21D-2012-08 TCGA-CV-6956-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 9ccee056-124e-40d5-a07d-c208765d8640 d28213c6-eb6f-4348-aca4-6f384a3b6d71 g.chr10:115481445G>A uc001lan.2 + 4 457 c.283G>A c.(283-285)GAG>AAG p.E95K CASP7_uc001lam.2_Missense_Mutation_p.E95K|CASP7_uc001lao.2_Missense_Mutation_p.E128K|CASP7_uc001lap.2_Missense_Mutation_p.E95K|CASP7_uc001laq.2_Missense_Mutation_p.E95K|CASP7_uc010qsa.1_Missense_Mutation_p.E180K|CASP7_uc010qsb.1_Missense_Mutation_p.E70K NM_033339 NP_203125 P55210 CASP7_HUMAN caspase 7 isoform alpha 95 activation of caspase activity by cytochrome c|cellular component disassembly involved in apoptosis|induction of apoptosis by intracellular signals|proteolysis cytosol|endoplasmic reticulum membrane|mitochondrial membrane|nucleoplasm cysteine-type endopeptidase activity|protein binding ovary(1) 1 Colorectal(252;0.0946)|Breast(234;0.188) Epithelial(162;0.012)|all cancers(201;0.014) CAAAGATGCCGAGGCGCTCTT 0.502 NA 39 71 0 0 0 0 MMP21 118856 broad.mit.edu 37 10 127462419 127462420 + Missense_Mutation DNP GA GA TT TCGA-CV-6956-01A-21D-2012-08 TCGA-CV-6956-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 9ccee056-124e-40d5-a07d-c208765d8640 d28213c6-eb6f-4348-aca4-6f384a3b6d71 g.chr10:127462419_127462420GA>TT uc001liu.2 - 2 677_678 c.677_678TC>AA c.(676-678)ATC>AAA p.I226K NM_147191 NP_671724 Q8N119 MMP21_HUMAN matrix metalloproteinase 21 preproprotein 226 proteolysis extracellular matrix calcium ion binding|metalloendopeptidase activity|zinc ion binding ovary(2) 2 all_lung(145;0.0096)|Lung NSC(174;0.0145)|Colorectal(57;0.0846)|all_neural(114;0.0936) AGCCCAGCTTGATGTCGACCGC 0.728 NA 23 40 0 0 0 0 SAA4 6291 broad.mit.edu 37 11 18257396 18257396 + Silent SNP C C T TCGA-CV-6956-01A-21D-2012-08 TCGA-CV-6956-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 9ccee056-124e-40d5-a07d-c208765d8640 d28213c6-eb6f-4348-aca4-6f384a3b6d71 g.chr11:18257396C>T uc001mny.2 - 2 174 c.78G>A c.(76-78)AAG>AAA p.K26K NM_006512 NP_006503 P35542 SAA4_HUMAN serum amyloid A4, constitutive precursor 26 acute-phase response high-density lipoprotein particle 0 GGAGAGCCTCCTTGAAAAACG 0.493 NA 24 79 0 0 0 0 NAV2 89797 broad.mit.edu 37 11 20083856 20083856 + Missense_Mutation SNP A A G TCGA-CV-6956-01A-21D-2012-08 TCGA-CV-6956-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 9ccee056-124e-40d5-a07d-c208765d8640 d28213c6-eb6f-4348-aca4-6f384a3b6d71 g.chr11:20083856A>G uc010rdm.1 + 22 5364 c.5003A>G c.(5002-5004)CAT>CGT p.H1668R NAV2_uc001mpp.2_Missense_Mutation_p.H1548R|NAV2_uc001mpr.3_Missense_Mutation_p.H1612R|NAV2_uc001mpt.2_Missense_Mutation_p.H661R|NAV2_uc009yhx.2_Missense_Mutation_p.H676R|NAV2_uc009yhy.1_Missense_Mutation_p.H574R|NAV2_uc009yhz.2_Missense_Mutation_p.H257R|NAV2_uc001mpu.2_Missense_Mutation_p.H50R NM_145117 NP_660093 Q8IVL1 NAV2_HUMAN neuron navigator 2 isoform 2 1668 Ser-rich. nucleus ATP binding|helicase activity skin(4)|ovary(1)|pancreas(1) 6 TTAATAGTTCATGGATCCTCA 0.423 NA 11 50 0 0 0 0 TRIM48 79097 broad.mit.edu 37 11 55032387 55032387 + Missense_Mutation SNP C C T TCGA-CV-6956-01A-21D-2012-08 TCGA-CV-6956-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 9ccee056-124e-40d5-a07d-c208765d8640 d28213c6-eb6f-4348-aca4-6f384a3b6d71 g.chr11:55032387C>T uc010rid.1 + 2 142 c.56C>T c.(55-57)TCT>TTT p.S19F NM_024114 NP_077019 Q8IWZ4 TRI48_HUMAN tripartite motif-containing 48 3 intracellular zinc ion binding 0 AACATGAATTCTGGAATCTCG 0.463 NA 89 188 0 0 0 0 OR5D16 390144 broad.mit.edu 37 11 55606573 55606573 + Missense_Mutation SNP C C G TCGA-CV-6956-01A-21D-2012-08 TCGA-CV-6956-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 9ccee056-124e-40d5-a07d-c208765d8640 d28213c6-eb6f-4348-aca4-6f384a3b6d71 g.chr11:55606573C>G uc010rio.1 + 1 346 c.346C>G c.(346-348)CTA>GTA p.L116V NM_001005496 NP_001005496 Q8NGK9 OR5DG_HUMAN olfactory receptor, family 5, subfamily D, 116 Helical; Name=3; (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity ovary(4)|skin(1) 5 all_epithelial(135;0.208) TGAATTAATTCTATTTGCGGT 0.438 NA 47 84 0 0 0 0 SYVN1 84447 broad.mit.edu 37 11 64897499 64897499 + Missense_Mutation SNP C C A TCGA-CV-6956-01A-21D-2012-08 TCGA-CV-6956-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 9ccee056-124e-40d5-a07d-c208765d8640 d28213c6-eb6f-4348-aca4-6f384a3b6d71 g.chr11:64897499C>A uc001odb.2 - 13 1477 c.1383G>T c.(1381-1383)ATG>ATT p.M461I SYVN1_uc001odc.2_Missense_Mutation_p.M460I|SYVN1_uc009yqc.2_Missense_Mutation_p.M409I NM_172230 NP_757385 Q86TM6 SYVN1_HUMAN synoviolin 1 isoform b 461 Pro-rich.|Cytoplasmic (Potential). ER-associated protein catabolic process|response to stress endoplasmic reticulum membrane|integral to membrane|nucleus acid-amino acid ligase activity|protein binding|zinc ion binding ovary(1) 1 GGGGCATACCCATCCAGGGAG 0.647 NA 7 14 5.18e-06 5.55e-06 1 0 SERPINH1 871 broad.mit.edu 37 11 75277799 75277799 + Silent SNP C C T TCGA-CV-6956-01A-21D-2012-08 TCGA-CV-6956-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 9ccee056-124e-40d5-a07d-c208765d8640 d28213c6-eb6f-4348-aca4-6f384a3b6d71 g.chr11:75277799C>T uc001owr.2 + 2 634 c.405C>T c.(403-405)TAC>TAT p.Y135Y SERPINH1_uc009yuf.2_Silent_p.Y135Y|SERPINH1_uc009yug.2_Silent_p.Y135Y|SERPINH1_uc001ows.2_Silent_p.Y135Y|SERPINH1_uc001owt.2_5'Flank NM_001235 NP_001226 P50454 SERPH_HUMAN serine (or cysteine) proteinase inhibitor, clade 135 regulation of proteolysis|response to unfolded protein endoplasmic reticulum lumen|ER-Golgi intermediate compartment collagen binding|serine-type endopeptidase inhibitor activity ovary(2) 2 Ovarian(111;0.11) GCCGACTGTACGGACCCAGCT 0.642 NA 16 25 0 0 0 0 UBE4A 9354 broad.mit.edu 37 11 118267058 118267059 + Missense_Mutation DNP CC CC TT TCGA-CV-6956-01A-21D-2012-08 TCGA-CV-6956-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 9ccee056-124e-40d5-a07d-c208765d8640 d28213c6-eb6f-4348-aca4-6f384a3b6d71 g.chr11:118267058_118267059CC>TT uc001psw.2 + 20 3233_3234 c.3104_3105CC>TT c.(3103-3105)CCC>CTT p.P1035L UBE4A_uc001psv.2_Missense_Mutation_p.P1042L NM_004788 NP_004779 Q14139 UBE4A_HUMAN ubiquitination factor E4A 1035 U-box. ubiquitin-dependent protein catabolic process ubiquitin ligase complex protein binding ovary(2)|upper_aerodigestive_tract(1)|breast(1)|kidney(1) 5 all_hematologic(175;0.046) Medulloblastoma(222;0.0425)|Breast(348;0.181)|all_hematologic(192;0.196)|all_neural(223;0.234) BRCA - Breast invasive adenocarcinoma(274;3.28e-05) AACCGTAGTCCCCTCACCATGG 0.421 NA 23 42 0 0 0 0 SORL1 6653 broad.mit.edu 37 11 121444948 121444948 + Splice_Site SNP A A T TCGA-CV-6956-01A-21D-2012-08 TCGA-CV-6956-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 9ccee056-124e-40d5-a07d-c208765d8640 d28213c6-eb6f-4348-aca4-6f384a3b6d71 g.chr11:121444948A>T uc001pxx.2 + 24 3418 c.3338_splice c.e24-2 p.P1113_splice SORL1_uc010rzp.1_5'Flank NM_003105 NP_003096 Q92673 SORL_HUMAN sortilin-related receptor containing LDLR class cholesterol metabolic process|lipid transport|receptor-mediated endocytosis integral to plasma membrane|low-density lipoprotein particle low-density lipoprotein particle binding|transmembrane receptor activity ovary(5)|breast(4)|large_intestine(2)|skin(2)|central_nervous_system(1)|pancreas(1) 15 Breast(109;0.00119)|Medulloblastoma(222;0.0429)|all_neural(223;0.113) BRCA - Breast invasive adenocarcinoma(274;3.34e-05)|OV - Ovarian serous cystadenocarcinoma(223;0.108) ATCCCATTTTAGCTACCACCA 0.418 NA 52 107 0 0 0 0 HSPA8 3312 broad.mit.edu 37 11 122928593 122928593 + Missense_Mutation SNP T T A TCGA-CV-6956-01A-21D-2012-08 TCGA-CV-6956-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 9ccee056-124e-40d5-a07d-c208765d8640 d28213c6-eb6f-4348-aca4-6f384a3b6d71 g.chr11:122928593T>A uc001pyo.2 - 9 1868 c.1790A>T c.(1789-1791)AAA>ATA p.K597I HSPA8_uc009zbc.2_Missense_Mutation_p.K361I|HSPA8_uc001pyp.2_Intron|HSPA8_uc010rzu.1_Missense_Mutation_p.K520I NM_006597 NP_006588 P11142 HSP7C_HUMAN heat shock 70kDa protein 8 isoform 1 597 cellular membrane organization|interspecies interaction between organisms|mRNA metabolic process|negative regulation of transcription, DNA-dependent|neurotransmitter secretion|post-Golgi vesicle-mediated transport|protein folding|response to unfolded protein|transcription, DNA-dependent cell surface|clathrin sculpted gamma-aminobutyric acid transport vesicle membrane|cytosol|melanosome|plasma membrane|ribonucleoprotein complex ATP binding|ATPase activity, coupled|protein binding central_nervous_system(7)|lung(1) 8 Breast(109;0.00249)|Lung NSC(97;0.0177)|all_lung(97;0.0179)|Medulloblastoma(222;0.0425)|all_neural(223;0.112) BRCA - Breast invasive adenocarcinoma(274;4.88e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0279) CTCCAGCTCTTTCTGTTGATG 0.463 NA 53 88 0 0 0 0 OR10S1 219873 broad.mit.edu 37 11 123847492 123847492 + Missense_Mutation SNP T T A TCGA-CV-6956-01A-21D-2012-08 TCGA-CV-6956-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 9ccee056-124e-40d5-a07d-c208765d8640 d28213c6-eb6f-4348-aca4-6f384a3b6d71 g.chr11:123847492T>A uc001pzm.1 - 1 907 c.907A>T c.(907-909)ACT>TCT p.T303S NM_001004474 NP_001004474 Q8NGN2 O10S1_HUMAN olfactory receptor, family 10, subfamily S, 303 Helical; Name=7; (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity ovary(1)|skin(1) 2 Breast(109;0.00867)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.118)|all_lung(97;0.126)|all_neural(223;0.22) BRCA - Breast invasive adenocarcinoma(274;4.88e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0399) TTCCGCAAAGTGTAAATGAAT 0.537 NA 43 83 0 0 0 0 APLP2 334 broad.mit.edu 37 11 130005458 130005458 + Missense_Mutation SNP A A G TCGA-CV-6956-01A-21D-2012-08 TCGA-CV-6956-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 9ccee056-124e-40d5-a07d-c208765d8640 d28213c6-eb6f-4348-aca4-6f384a3b6d71 g.chr11:130005458A>G uc010sby.1 + 13 1842 c.1685A>G c.(1684-1686)GAT>GGT p.D562G APLP2_uc001qfp.2_Missense_Mutation_p.D562G|APLP2_uc001qfq.2_Missense_Mutation_p.D506G|APLP2_uc010sbz.1_Missense_Mutation_p.D350G|APLP2_uc001qfr.2_Missense_Mutation_p.D328G|APLP2_uc001qfs.2_Missense_Mutation_p.D333G|APLP2_uc001qfv.2_Missense_Mutation_p.D453G NM_001642 NP_001633 Q06481 APLP2_HUMAN amyloid beta (A4) precursor-like protein 2 562 Extracellular (Potential). G-protein coupled receptor protein signaling pathway integral to membrane|nucleus|plasma membrane DNA binding|identical protein binding|serine-type endopeptidase inhibitor activity ovary(3) 3 all_hematologic(175;0.0429) Breast(109;0.00586)|Lung NSC(97;0.00785)|all_lung(97;0.0154)|Medulloblastoma(222;0.0523)|all_neural(223;0.186) OV - Ovarian serous cystadenocarcinoma(99;0.0197)|Lung(977;0.24) TCTTCATCAGATGAGCTCCTT 0.587 NA 45 83 0 0 0 0 PLBD1 79887 broad.mit.edu 37 12 14706306 14706306 + Missense_Mutation SNP C C G TCGA-CV-6956-01A-21D-2012-08 TCGA-CV-6956-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 9ccee056-124e-40d5-a07d-c208765d8640 d28213c6-eb6f-4348-aca4-6f384a3b6d71 g.chr12:14706306C>G uc001rcc.1 - 2 317 c.156G>C c.(154-156)AAG>AAC p.K52N NM_024829 NP_079105 Q6P4A8 PLBL1_HUMAN phospholipase B domain containing 1 52 lipid catabolic process extracellular region hydrolase activity 0 CTTGTACTGTCTTTTCAGCAG 0.413 NA 26 38 0 0 0 0 SLCO1A2 6579 broad.mit.edu 37 12 21467564 21467564 + Missense_Mutation SNP C C G TCGA-CV-6956-01A-21D-2012-08 TCGA-CV-6956-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 9ccee056-124e-40d5-a07d-c208765d8640 d28213c6-eb6f-4348-aca4-6f384a3b6d71 g.chr12:21467564C>G uc001rer.2 - 3 505 c.254G>C c.(253-255)AGA>ACA p.R85T SLCO1A2_uc001res.2_Missense_Mutation_p.R85T|SLCO1A2_uc010siq.1_Intron|SLCO1A2_uc010sio.1_Intron|SLCO1A2_uc010sip.1_Intron|SLCO1A2_uc001ret.2_Missense_Mutation_p.R83T|SLCO1A2_uc001reu.2_Missense_Mutation_p.R65T NM_021094 NP_066580 P46721 SO1A2_HUMAN organic anion transporting polypeptide A 85 Cytoplasmic (Potential). bile acid metabolic process|sodium-independent organic anion transport integral to membrane|plasma membrane bile acid transmembrane transporter activity|organic anion transmembrane transporter activity large_intestine(1)|pancreas(1)|ovary(1)|skin(1) 4 CATTATAGGTCTATGCAGTTT 0.328 NA 19 41 0 0 0 0 ITPR2 3709 broad.mit.edu 37 12 26808679 26808679 + Missense_Mutation SNP G G A TCGA-CV-6956-01A-21D-2012-08 TCGA-CV-6956-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 9ccee056-124e-40d5-a07d-c208765d8640 d28213c6-eb6f-4348-aca4-6f384a3b6d71 g.chr12:26808679G>A uc001rhg.2 - 20 2968 c.2551C>T c.(2551-2553)CCT>TCT p.P851S NM_002223 NP_002214 Q14571 ITPR2_HUMAN inositol 1,4,5-triphosphate receptor, type 2 851 Cytoplasmic (Potential). activation of phospholipase C activity|energy reserve metabolic process|nerve growth factor receptor signaling pathway|platelet activation|regulation of insulin secretion|response to hypoxia integral to membrane|plasma membrane enriched fraction|platelet dense tubular network membrane|sarcoplasmic reticulum membrane calcium ion transmembrane transporter activity|inositol 1,4,5-trisphosphate-sensitive calcium-release channel activity kidney(6)|ovary(4)|skin(2)|upper_aerodigestive_tract(1)|lung(1) 14 Colorectal(261;0.0847) TCCCCAAAAGGAAAGGGCTGG 0.338 NA 37 61 0 0 0 0 FKBP11 51303 broad.mit.edu 37 12 49319149 49319149 + Silent SNP C C A TCGA-CV-6956-01A-21D-2012-08 TCGA-CV-6956-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 9ccee056-124e-40d5-a07d-c208765d8640 d28213c6-eb6f-4348-aca4-6f384a3b6d71 g.chr12:49319149C>A uc001rsp.2 - 1 182 c.63G>T c.(61-63)GCG>GCT p.A21A FKBP11_uc010sma.1_5'Flank|FKBP11_uc001rsq.3_Silent_p.A21A|FKBP11_uc010smb.1_Silent_p.A21A NM_016594 NP_057678 Q9NYL4 FKB11_HUMAN FK506 binding protein 11 isoform 1 precursor 21 protein folding integral to membrane FK506 binding|peptidyl-prolyl cis-trans isomerase activity 0 CCCGGCACACCGCCGCACTGa 0.632 NA 3 25 0.00909568 0.00939367 1 0 KRT78 196374 broad.mit.edu 37 12 53241878 53241878 + Missense_Mutation SNP C C T TCGA-CV-6956-01A-21D-2012-08 TCGA-CV-6956-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 9ccee056-124e-40d5-a07d-c208765d8640 d28213c6-eb6f-4348-aca4-6f384a3b6d71 g.chr12:53241878C>T uc001sbc.1 - 2 476 c.412G>A c.(412-414)GTC>ATC p.V138I NM_173352 NP_775487 Q8N1N4 K2C78_HUMAN keratin 5b 138 Coil 1A.|Rod. keratin filament protein binding|structural molecule activity ovary(2) 2 GTCTCCAGGACCTTGTTCTGC 0.597 NA 11 32 0 0 0 0 MYO1A 4640 broad.mit.edu 37 12 57431381 57431381 + Missense_Mutation SNP C C G TCGA-CV-6956-01A-21D-2012-08 TCGA-CV-6956-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 9ccee056-124e-40d5-a07d-c208765d8640 d28213c6-eb6f-4348-aca4-6f384a3b6d71 g.chr12:57431381C>G uc001smw.3 - 19 2249 c.2006G>C c.(2005-2007)GGG>GCG p.G669A MYO1A_uc010sqz.1_Missense_Mutation_p.G507A|MYO1A_uc009zpd.2_Missense_Mutation_p.G669A NM_005379 NP_005370 Q9UBC5 MYO1A_HUMAN myosin IA 669 Myosin head-like. sensory perception of sound|vesicle localization brush border|cortical actin cytoskeleton|filamentous actin|lateral plasma membrane|microvillus|myosin complex actin binding|ATP binding|calmodulin binding|motor activity skin(4)|ovary(2)|urinary_tract(1) 7 GGCCAGCTCCCCCGAGGACAT 0.512 NA 107 229 0 0 0 0 OS9 10956 broad.mit.edu 37 12 58088661 58088661 + Silent SNP G G A TCGA-CV-6956-01A-21D-2012-08 TCGA-CV-6956-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 9ccee056-124e-40d5-a07d-c208765d8640 d28213c6-eb6f-4348-aca4-6f384a3b6d71 g.chr12:58088661G>A uc001spj.2 + 2 350 c.291G>A c.(289-291)GGG>GGA p.G97G OS9_uc010srx.1_Silent_p.G97G|OS9_uc001spk.2_Silent_p.G97G|OS9_uc001spl.2_Silent_p.G97G|OS9_uc001spm.2_Silent_p.G97G|OS9_uc001spn.2_Silent_p.G97G|OS9_uc010sry.1_Silent_p.G97G|OS9_uc010srz.1_Intron NM_006812 NP_006803 Q13438 OS9_HUMAN osteosarcoma amplified 9, endoplasmic reticulum 97 ER-associated protein catabolic process|protein retention in ER lumen|protein ubiquitination involved in ubiquitin-dependent protein catabolic process|response to endoplasmic reticulum stress endoplasmic reticulum lumen|Hrd1p ubiquitin ligase complex glycoprotein binding|protein binding|sugar binding ovary(1) 1 all_neural(12;0.00548)|Glioma(12;0.0126)|Melanoma(17;0.122) BRCA - Breast invasive adenocarcinoma(9;0.109) AAGGGCCTGGGATCCCTGAGT 0.522 NA 20 41 0 0 0 0 SRGAP1 57522 broad.mit.edu 37 12 64521813 64521813 + Missense_Mutation SNP G G A TCGA-CV-6956-01A-21D-2012-08 TCGA-CV-6956-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 9ccee056-124e-40d5-a07d-c208765d8640 d28213c6-eb6f-4348-aca4-6f384a3b6d71 g.chr12:64521813G>A uc010ssp.1 + 21 2769 c.2713G>A c.(2713-2715)GAC>AAC p.D905N SRGAP1_uc001srv.2_Missense_Mutation_p.D842N NM_020762 NP_065813 Q7Z6B7 SRGP1_HUMAN SLIT-ROBO Rho GTPase activating protein 1 905 axon guidance cytosol ovary(2)|central_nervous_system(2) 4 GBM - Glioblastoma multiforme(3;0.000139)|BRCA - Breast invasive adenocarcinoma(9;0.225) GBM - Glioblastoma multiforme(28;0.0608) CCTCAACAATGACAGTCCTGA 0.617 NA 31 54 0 0 0 0 PTPRB 5787 broad.mit.edu 37 12 71002999 71002999 + Missense_Mutation SNP T T G TCGA-CV-6956-01A-21D-2012-08 TCGA-CV-6956-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 9ccee056-124e-40d5-a07d-c208765d8640 d28213c6-eb6f-4348-aca4-6f384a3b6d71 g.chr12:71002999T>G uc001swb.3 - 2 205 c.175A>C c.(175-177)AGC>CGC p.S59R PTPRB_uc010sto.1_Missense_Mutation_p.S59R|PTPRB_uc010stp.1_Missense_Mutation_p.S59R|PTPRB_uc001swc.3_Missense_Mutation_p.S277R|PTPRB_uc001swa.3_Missense_Mutation_p.S277R|PTPRB_uc001swd.3_Missense_Mutation_p.S276R|PTPRB_uc009zrr.1_Missense_Mutation_p.S156R|PTPRB_uc001swe.2_Missense_Mutation_p.S277R NM_002837 NP_002828 P23467 PTPRB_HUMAN protein tyrosine phosphatase, receptor type, B 59 Fibronectin type-III 1.|Extracellular (Potential). angiogenesis integral to plasma membrane protein binding|transmembrane receptor protein tyrosine phosphatase activity lung(2)|skin(1) 3 Renal(347;0.236) GBM - Glioblastoma multiforme(2;2.17e-05)|Lung(24;0.000636)|OV - Ovarian serous cystadenocarcinoma(12;0.00306)|STAD - Stomach adenocarcinoma(21;0.149) GTGTCACTGCTATAGATGAGG 0.498 NA 3 67 0 0 0 0 ANO4 121601 broad.mit.edu 37 12 101520815 101520815 + Missense_Mutation SNP G G C TCGA-CV-6956-01A-21D-2012-08 TCGA-CV-6956-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 9ccee056-124e-40d5-a07d-c208765d8640 d28213c6-eb6f-4348-aca4-6f384a3b6d71 g.chr12:101520815G>C uc010svm.1 + 27 3407 c.2835G>C c.(2833-2835)AAG>AAC p.K945N ANO4_uc001thw.2_Missense_Mutation_p.K910N|ANO4_uc001thx.2_Missense_Mutation_p.K945N|ANO4_uc001thy.2_Missense_Mutation_p.K465N NM_178826 NP_849148 Q32M45 ANO4_HUMAN anoctamin 4 945 Extracellular (Potential). chloride channel complex chloride channel activity ovary(4)|skin(2) 6 AGAGGAAGAAGAATGGAAAAG 0.488 NA HNSCC(74;0.22) 6 16 0 0 0 0 SELPLG 6404 broad.mit.edu 37 12 109017613 109017613 + Silent SNP C C T TCGA-CV-6956-01A-21D-2012-08 TCGA-CV-6956-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 9ccee056-124e-40d5-a07d-c208765d8640 d28213c6-eb6f-4348-aca4-6f384a3b6d71 g.chr12:109017613C>T uc001tni.2 - 2 631 c.471G>A c.(469-471)ACG>ACA p.T157T SELPLG_uc001tnh.2_Silent_p.T147T|SELPLG_uc010sxe.1_Silent_p.T173T NM_003006 NP_002997 Q14242 SELPL_HUMAN selectin P ligand 157 Extracellular (Potential).|12 X 10 AA tandem repeats. blood coagulation|cellular response to interleukin-6 integral to plasma membrane|membrane fraction bacterial cell surface binding|receptor binding 0 CCTCCGTGGCCGTCAGTCGAG 0.637 NA 53 78 0 0 0 0 CUX2 23316 broad.mit.edu 37 12 111746236 111746236 + Missense_Mutation SNP G G A TCGA-CV-6956-01A-21D-2012-08 TCGA-CV-6956-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 9ccee056-124e-40d5-a07d-c208765d8640 d28213c6-eb6f-4348-aca4-6f384a3b6d71 g.chr12:111746236G>A uc001tsa.1 + 14 1317 c.1164G>A c.(1162-1164)ATG>ATA p.M388I NM_015267 NP_056082 O14529 CUX2_HUMAN cut-like 2 388 nucleus sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity ovary(3)|skin(2)|breast(1) 6 CCTAGGGCATGGCCAAGCCTG 0.612 NA 18 27 0 0 0 0 RNF10 9921 broad.mit.edu 37 12 121000765 121000765 + Silent SNP G G T TCGA-CV-6956-01A-21D-2012-08 TCGA-CV-6956-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 9ccee056-124e-40d5-a07d-c208765d8640 d28213c6-eb6f-4348-aca4-6f384a3b6d71 g.chr12:121000765G>T uc001typ.3 + 8 1629 c.1146G>T c.(1144-1146)CTG>CTT p.L382L RNF10_uc010szk.1_RNA|RNF10_uc001tyq.3_Silent_p.L288L NM_014868 NP_055683 Q8N5U6 RNF10_HUMAN ring finger protein 10 382 negative regulation of Schwann cell proliferation|positive regulation of myelination|positive regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent cytoplasm|nucleus protein binding|transcription regulatory region DNA binding|zinc ion binding upper_aerodigestive_tract(1)|ovary(1) 2 all_neural(191;0.0804)|Medulloblastoma(191;0.0922) AAGAGGCTCTGTCGGGATTGG 0.537 NA 30 48 6.01e-18 6.99e-18 1 0 HNF1A 6927 broad.mit.edu 37 12 121434487 121434487 + Silent SNP T T A TCGA-CV-6956-01A-21D-2012-08 TCGA-CV-6956-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 9ccee056-124e-40d5-a07d-c208765d8640 d28213c6-eb6f-4348-aca4-6f384a3b6d71 g.chr12:121434487T>A uc001tzg.2 + 6 1274 c.1251T>A c.(1249-1251)GGT>GGA p.G417G HNF1A_uc001tze.1_Silent_p.G417G|HNF1A_uc001tzf.2_Silent_p.G417G|HNF1A_uc010szn.1_Silent_p.G417G NM_000545 NP_000536 P20823 HNF1A_HUMAN hepatic nuclear factor-1-alpha 417 glucose homeostasis|glucose import|insulin secretion|positive regulation of transcription initiation from RNA polymerase II promoter|positive regulation of transcription, DNA-dependent|renal glucose absorption cytoplasm|nucleus|protein complex DNA binding|protein dimerization activity|protein heterodimerization activity|protein homodimerization activity|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding liver(92)|large_intestine(15)|endometrium(6)|breast(2)|lung(1) 116 all_neural(191;0.0684)|Medulloblastoma(191;0.0922) TCGGGCCTGGTGAGCCTGCCT 0.632 NA Hepatic_Adenoma_Familial_Clustering_of 19 32 0 0 0 0 WDR66 144406 broad.mit.edu 37 12 122361573 122361573 + Missense_Mutation SNP G G A TCGA-CV-6956-01A-21D-2012-08 TCGA-CV-6956-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 9ccee056-124e-40d5-a07d-c208765d8640 d28213c6-eb6f-4348-aca4-6f384a3b6d71 g.chr12:122361573G>A uc009zxk.2 + 3 566 c.424G>A c.(424-426)GAT>AAT p.D142N NM_144668 NP_653269 Q8TBY9 WDR66_HUMAN WD repeat domain 66 142 calcium ion binding ovary(1)|skin(1) 2 all_neural(191;0.0496)|Medulloblastoma(191;0.0922) OV - Ovarian serous cystadenocarcinoma(86;0.000155)|Epithelial(86;0.000634)|BRCA - Breast invasive adenocarcinoma(302;0.248) ACAATTGGAGGATGCAGAAAC 0.363 NA 23 61 0 0 0 0 POLE 5426 broad.mit.edu 37 12 133249289 133249289 + Missense_Mutation SNP T T C TCGA-CV-6956-01A-21D-2012-08 TCGA-CV-6956-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 9ccee056-124e-40d5-a07d-c208765d8640 d28213c6-eb6f-4348-aca4-6f384a3b6d71 g.chr12:133249289T>C uc001uks.1 - 15 1654 c.1610A>G c.(1609-1611)GAG>GGG p.E537G POLE_uc010tbq.1_RNA|POLE_uc009zyu.1_Missense_Mutation_p.E510G NM_006231 NP_006222 Q07864 DPOE1_HUMAN DNA-directed DNA polymerase epsilon 537 base-excision repair, gap-filling|DNA synthesis involved in DNA repair|DNA-dependent DNA replication initiation|G1/S transition of mitotic cell cycle|M/G1 transition of mitotic cell cycle|nucleotide-excision repair, DNA gap filling|S phase of mitotic cell cycle|telomere maintenance via recombination|telomere maintenance via semi-conservative replication|transcription-coupled nucleotide-excision repair nucleoplasm chromatin binding|DNA binding|DNA-directed DNA polymerase activity|nucleotide binding|protein binding|zinc ion binding ovary(3)|skin(3)|lung(1)|central_nervous_system(1) 8 all_neural(191;0.0982)|Medulloblastoma(191;0.163) all_epithelial(31;0.0416) OV - Ovarian serous cystadenocarcinoma(86;5.22e-08)|Epithelial(86;4.03e-07)|all cancers(50;1.18e-05) GACGTAGGTCTCAGAGTCCAG 0.577 NA DNA_polymerases_(catalytic_subunits)|Direct_reversal_of_damage 31 64 0 0 0 0 RNF17 56163 broad.mit.edu 37 13 25448319 25448319 + Missense_Mutation SNP A A T TCGA-CV-6956-01A-21D-2012-08 TCGA-CV-6956-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 9ccee056-124e-40d5-a07d-c208765d8640 d28213c6-eb6f-4348-aca4-6f384a3b6d71 g.chr13:25448319A>T uc001upr.2 + 33 4556 c.4515A>T c.(4513-4515)GAA>GAT p.E1505D RNF17_uc010aab.2_RNA|RNF17_uc010tde.1_Missense_Mutation_p.E1501D|RNF17_uc001ups.2_Missense_Mutation_p.E1444D|RNF17_uc010aac.2_Missense_Mutation_p.E697D|RNF17_uc010aad.2_Missense_Mutation_p.E515D NM_031277 NP_112567 Q9BXT8 RNF17_HUMAN ring finger protein 17 1505 Tudor 4. multicellular organismal development cytoplasm|nucleus hydrolase activity, acting on ester bonds|nucleic acid binding|zinc ion binding ovary(1)|skin(1) 2 Lung SC(185;0.0225)|Breast(139;0.077) all cancers(112;0.0114)|OV - Ovarian serous cystadenocarcinoma(117;0.0311)|Epithelial(112;0.0524) CCATTAAAGAATTTAATCCTT 0.328 NA 31 36 0 0 0 0 N4BP2L2 10443 broad.mit.edu 37 13 33111164 33111164 + Missense_Mutation SNP T T A TCGA-CV-6956-01A-21D-2012-08 TCGA-CV-6956-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 9ccee056-124e-40d5-a07d-c208765d8640 d28213c6-eb6f-4348-aca4-6f384a3b6d71 g.chr13:33111164T>A uc001uuk.3 - 2 179 c.1A>T c.(1-3)ATG>TTG p.M1L N4BP2L2_uc010abe.1_Missense_Mutation_p.M1L|N4BP2L2_uc010tdz.1_Intron|N4BP2L2_uc001uul.1_Missense_Mutation_p.M1L|N4BP2L2_uc001uum.2_5'Flank NM_014887 NP_055702 Q92802 N42L2_HUMAN phosphonoformate immuno-associated protein 5 1 0 Lung SC(185;0.0262) all cancers(112;9.5e-07)|Epithelial(112;5.07e-06)|OV - Ovarian serous cystadenocarcinoma(117;0.00196)|BRCA - Breast invasive adenocarcinoma(63;0.00438)|GBM - Glioblastoma multiforme(144;0.243) CCATAAGACATCTGAGAAATA 0.284 NA 10 14 0 0 0 0 NBEA 26960 broad.mit.edu 37 13 35619136 35619137 + Missense_Mutation DNP GG GG AA TCGA-CV-6956-01A-21D-2012-08 TCGA-CV-6956-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 9ccee056-124e-40d5-a07d-c208765d8640 d28213c6-eb6f-4348-aca4-6f384a3b6d71 g.chr13:35619136_35619137GG>AA uc001uvb.2 + 4 785_786 c.579_580GG>AA c.(577-582)AAGGAG>AAAAAG p.E194K NM_015678 NP_056493 Q8NFP9 NBEA_HUMAN neurobeachin 194 cytosol|endomembrane system|plasma membrane|trans-Golgi network protein binding ovary(9)|large_intestine(2) 11 Breast(139;0.0141)|Lung SC(185;0.0548)|Prostate(109;0.207) all cancers(112;1.93e-08)|Epithelial(112;1.62e-07)|BRCA - Breast invasive adenocarcinoma(63;0.00033)|OV - Ovarian serous cystadenocarcinoma(117;0.00109)|KIRC - Kidney renal clear cell carcinoma(186;0.00575)|Kidney(163;0.00656)|GBM - Glioblastoma multiforme(144;0.191)|Lung(94;0.199) TCACTGTCAAGGAGTTGAAGCT 0.416 NA 9 14 0 0 0 0 PCDH8 5100 broad.mit.edu 37 13 53419596 53419596 + Missense_Mutation SNP C C T TCGA-CV-6956-01A-21D-2012-08 TCGA-CV-6956-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 9ccee056-124e-40d5-a07d-c208765d8640 d28213c6-eb6f-4348-aca4-6f384a3b6d71 g.chr13:53419596C>T uc001vhi.2 - 2 3006 c.2803G>A c.(2803-2805)GCT>ACT p.A935T PCDH8_uc001vhj.2_Missense_Mutation_p.A838T NM_002590 NP_002581 O95206 PCDH8_HUMAN protocadherin 8 isoform 1 precursor 935 Cytoplasmic (Potential). cell-cell signaling|homophilic cell adhesion cell junction|dendrite|integral to plasma membrane|postsynaptic membrane|presynaptic membrane calcium ion binding breast(1) 1 Lung NSC(96;0.0019)|Breast(56;0.00235)|Hepatocellular(98;0.065)|Prostate(109;0.0771)|all_neural(104;0.173) GBM - Glioblastoma multiforme(99;2.19e-08) TTTTTCAGAGCGTCCCCGCTG 0.522 NA 7 74 0 0 0 0 MYCBP2 23077 broad.mit.edu 37 13 77632376 77632376 + Missense_Mutation SNP G G A TCGA-CV-6956-01A-21D-2012-08 TCGA-CV-6956-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 9ccee056-124e-40d5-a07d-c208765d8640 d28213c6-eb6f-4348-aca4-6f384a3b6d71 g.chr13:77632376G>A uc001vkf.2 - 79 13283 c.13192C>T c.(13192-13194)CTC>TTC p.L4398F MYCBP2_uc010aev.2_Missense_Mutation_p.L3802F|MYCBP2_uc001vke.2_Missense_Mutation_p.L1015F NM_015057 NP_055872 O75592 MYCB2_HUMAN MYC binding protein 2 4398 RING-type; atypical. regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus ligase activity|protein binding|zinc ion binding ovary(4)|breast(4)|skin(3)|lung(2)|pancreas(1) 14 Breast(118;0.212)|Acute lymphoblastic leukemia(28;0.22) GBM - Glioblastoma multiforme(99;0.109) GCTGCCGAGAGCGCTTCGGTG 0.458 NA 49 105 0 0 0 0 SLITRK5 26050 broad.mit.edu 37 13 88329860 88329860 + Silent SNP C C A TCGA-CV-6956-01A-21D-2012-08 TCGA-CV-6956-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 9ccee056-124e-40d5-a07d-c208765d8640 d28213c6-eb6f-4348-aca4-6f384a3b6d71 g.chr13:88329860C>A uc001vln.2 + 2 2436 c.2217C>A c.(2215-2217)CCC>CCA p.P739P SLITRK5_uc010tic.1_Silent_p.P498P NM_015567 NP_056382 O94991 SLIK5_HUMAN SLIT and NTRK-like family, member 5 precursor 739 Cytoplasmic (Potential). integral to membrane ovary(2)|pancreas(2)|central_nervous_system(1) 5 all_neural(89;0.101)|Medulloblastoma(90;0.163) CCGCGCTGCCCAAGGTGAAGA 0.667 NA 37 101 1.91e-15 2.2e-15 1 0 GPC6 10082 broad.mit.edu 37 13 95055462 95055462 + Silent SNP G G T TCGA-CV-6956-01A-21D-2012-08 TCGA-CV-6956-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 9ccee056-124e-40d5-a07d-c208765d8640 d28213c6-eb6f-4348-aca4-6f384a3b6d71 g.chr13:95055462G>T uc001vlt.2 + 9 2291 c.1659G>T c.(1657-1659)CTG>CTT p.L553L NM_005708 NP_005699 Q9Y625 GPC6_HUMAN glypican 6 precursor 553 anchored to membrane|extracellular space|integral to plasma membrane|proteinaceous extracellular matrix heparan sulfate proteoglycan binding 0 all_neural(89;0.0684)|Medulloblastoma(90;0.163) all_cancers(2;5.48e-07)|all_epithelial(2;5.69e-08)|all_lung(2;2.19e-05)|Lung NSC(4;6.09e-05)|Breast(118;0.0395)|Renal(2;0.0568)|Hepatocellular(115;0.217) TGCAGAGACTGTGCAGATAAT 0.517 NA 6 41 8.13e-05 8.57e-05 1 0 DOCK9 23348 broad.mit.edu 37 13 99566619 99566619 + Missense_Mutation SNP C C T TCGA-CV-6956-01A-21D-2012-08 TCGA-CV-6956-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 9ccee056-124e-40d5-a07d-c208765d8640 d28213c6-eb6f-4348-aca4-6f384a3b6d71 g.chr13:99566619C>T uc001vnt.2 - 9 981 c.926G>A c.(925-927)GGT>GAT p.G309D DOCK9_uc001vnw.2_Missense_Mutation_p.G308D|DOCK9_uc001vnv.1_RNA|DOCK9_uc010tir.1_Missense_Mutation_p.G309D|DOCK9_uc010tis.1_Missense_Mutation_p.G308D|DOCK9_uc010tit.1_Missense_Mutation_p.G309D|DOCK9_uc010afu.1_Missense_Mutation_p.G124D NM_015296 NP_056111 Q9BZ29 DOCK9_HUMAN dedicator of cytokinesis 9 isoform a 309 blood coagulation cytosol|endomembrane system|membrane GTP binding|GTPase binding|guanyl-nucleotide exchange factor activity central_nervous_system(1) 1 all_neural(89;0.101)|Medulloblastoma(90;0.18)|Lung SC(71;0.184) TAAACCGGAACCAGAACCTTC 0.393 NA 5 13 0 0 0 0 MYO16 23026 broad.mit.edu 37 13 109475526 109475526 + Missense_Mutation SNP T T A TCGA-CV-6956-01A-21D-2012-08 TCGA-CV-6956-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 9ccee056-124e-40d5-a07d-c208765d8640 d28213c6-eb6f-4348-aca4-6f384a3b6d71 g.chr13:109475526T>A uc001vqt.1 + 9 1057 c.931T>A c.(931-933)TGG>AGG p.W311R MYO16_uc010agk.1_Missense_Mutation_p.W333R|MYO16_uc001vqu.1_Missense_Mutation_p.W111R NM_015011 NP_055826 Q9Y6X6 MYO16_HUMAN myosin heavy chain Myr 8 311 cerebellum development|negative regulation of cell proliferation|negative regulation of S phase of mitotic cell cycle myosin complex|nucleoplasm|perinuclear region of cytoplasm|plasma membrane actin filament binding|ATP binding|motor activity ovary(6)|large_intestine(1)|kidney(1)|breast(1)|central_nervous_system(1) 10 all_lung(23;0.000332)|all_neural(89;0.00294)|Medulloblastoma(90;0.00596)|Lung NSC(43;0.00751)|Lung SC(71;0.104) BRCA - Breast invasive adenocarcinoma(86;0.19)|all cancers(43;0.201) CGAAATTGCCTGGGAAGAAAA 0.393 NA 48 141 0 0 0 0 ARHGEF7 8874 broad.mit.edu 37 13 111919973 111919973 + Silent SNP T T C TCGA-CV-6956-01A-21D-2012-08 TCGA-CV-6956-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 9ccee056-124e-40d5-a07d-c208765d8640 d28213c6-eb6f-4348-aca4-6f384a3b6d71 g.chr13:111919973T>C uc001vrs.2 + 10 1342 c.1092T>C c.(1090-1092)TAT>TAC p.Y364Y ARHGEF7_uc001vrr.2_Silent_p.Y343Y|ARHGEF7_uc001vrt.2_Silent_p.Y314Y|ARHGEF7_uc010tjn.1_RNA|ARHGEF7_uc001vru.1_Silent_p.Y186Y|ARHGEF7_uc001vrv.3_Silent_p.Y186Y|ARHGEF7_uc001vrw.3_Silent_p.Y186Y|ARHGEF7_uc001vrx.3_Silent_p.Y186Y|ARHGEF7_uc010tjo.1_Silent_p.Y261Y|ARHGEF7_uc010tjp.1_Silent_p.Y108Y|ARHGEF7_uc010agn.1_Silent_p.Y108Y NM_001113511 NP_001106983 Q14155 ARHG7_HUMAN PAK-interacting exchange factor beta isoform c 364 DH. apoptosis|epidermal growth factor receptor signaling pathway|induction of apoptosis by extracellular signals|negative regulation of epidermal growth factor receptor signaling pathway|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction cytosol protein binding|Rho guanyl-nucleotide exchange factor activity ovary(2)|skin(2)|pancreas(1)|lung(1)|kidney(1) 7 all_lung(23;3.96e-05)|Lung NSC(43;0.00156)|Lung SC(71;0.0753)|all_neural(89;0.0804)|Medulloblastoma(90;0.163) BRCA - Breast invasive adenocarcinoma(86;0.188) ACCTCACGTATTGTGCCAATC 0.532 NA 30 60 0 0 0 0 OR11H4 390442 broad.mit.edu 37 14 20711094 20711094 + Silent SNP C C T TCGA-CV-6956-01A-21D-2012-08 TCGA-CV-6956-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 9ccee056-124e-40d5-a07d-c208765d8640 d28213c6-eb6f-4348-aca4-6f384a3b6d71 g.chr14:20711094C>T uc010tld.1 + 1 144 c.144C>T c.(142-144)ACC>ACT p.T48T NM_001004479 NP_001004479 Q8NGC9 O11H4_HUMAN olfactory receptor, family 11, subfamily H, 48 Helical; Name=1; (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity ovary(1) 1 all_cancers(95;0.000888) Epithelial(56;1.75e-06)|all cancers(55;1.22e-05) GBM - Glioblastoma multiforme(265;0.0146) ATGTCTTGACCTTGCTGGGAA 0.443 NA 30 60 0 0 0 0 TOX4 9878 broad.mit.edu 37 14 21955828 21955828 + Silent SNP G G A TCGA-CV-6956-01A-21D-2012-08 TCGA-CV-6956-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 9ccee056-124e-40d5-a07d-c208765d8640 d28213c6-eb6f-4348-aca4-6f384a3b6d71 g.chr14:21955828G>A uc001waz.2 + 3 397 c.294G>A c.(292-294)GGG>GGA p.G98G TOX4_uc001way.2_5'UTR|TOX4_uc001wba.2_RNA|TOX4_uc010tlu.1_Silent_p.G75G|TOX4_uc010tlv.1_Intron NM_014828 NP_055643 O94842 TOX4_HUMAN epidermal Langerhans cell protein LCP1 98 chromatin|nucleus|PTW/PP1 phosphatase complex DNA binding|protein binding ovary(1) 1 all_cancers(95;0.000465) Epithelial(56;6.61e-06)|all cancers(55;5.15e-05) GBM - Glioblastoma multiforme(265;0.0149) AGGGCGGGGGGCTCCTGAGTG 0.557 NA 35 55 0 0 0 0 CTAGE5 4253 broad.mit.edu 37 14 39764138 39764138 + Missense_Mutation SNP A A G rs150627486 byFrequency TCGA-CV-6956-01A-21D-2012-08 TCGA-CV-6956-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 9ccee056-124e-40d5-a07d-c208765d8640 d28213c6-eb6f-4348-aca4-6f384a3b6d71 g.chr14:39764138A>G uc001wvg.3 + 8 913 c.577A>G c.(577-579)ACC>GCC p.T193A CTAGE5_uc010tqe.1_Missense_Mutation_p.T155A|CTAGE5_uc001wuz.3_Missense_Mutation_p.T181A|CTAGE5_uc001wuy.3_Missense_Mutation_p.T113A|CTAGE5_uc001wvb.3_Missense_Mutation_p.T164A|CTAGE5_uc001wvc.3_Missense_Mutation_p.T138A|CTAGE5_uc001wva.3_Missense_Mutation_p.T164A|CTAGE5_uc001wve.1_Missense_Mutation_p.T169A|CTAGE5_uc001wvh.3_Missense_Mutation_p.T193A|CTAGE5_uc001wvf.3_Missense_Mutation_p.T118A|CTAGE5_uc001wvi.3_Missense_Mutation_p.T198A|CTAGE5_uc010amz.2_5'UTR|CTAGE5_uc001wvj.3_Missense_Mutation_p.T164A NM_005930 NP_005921 O15320 CTGE5_HUMAN CTAGE family, member 5 isoform 1 193 Potential. enzyme activator activity|protein binding 0 Hepatocellular(127;0.213) LUAD - Lung adenocarcinoma(48;0.000565)|Lung(238;0.000711) GBM - Glioblastoma multiforme(112;0.0475) GGCCAAAATGACCTTCAAGAT 0.313 NA 4 88 0 0 0 0 NIN 51199 broad.mit.edu 37 14 51259494 51259494 + Missense_Mutation SNP G G A TCGA-CV-6956-01A-21D-2012-08 TCGA-CV-6956-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 9ccee056-124e-40d5-a07d-c208765d8640 d28213c6-eb6f-4348-aca4-6f384a3b6d71 g.chr14:51259494G>A uc001wym.2 - 5 562 c.371C>T c.(370-372)ACG>ATG p.T124M NIN_uc001wyi.2_Missense_Mutation_p.T124M|NIN_uc001wyj.2_RNA|NIN_uc001wyk.2_Missense_Mutation_p.T124M|NIN_uc010tqp.1_Missense_Mutation_p.T130M|NIN_uc001wyo.2_Missense_Mutation_p.T124M|NIN_uc001wyp.1_Missense_Mutation_p.T86M NM_182946 NP_891991 Q8N4C6 NIN_HUMAN ninein isoform 5 124 centrosome localization centrosome|microtubule calcium ion binding|GTP binding|protein binding skin(3)|ovary(1)|kidney(1)|central_nervous_system(1) 6 all_epithelial(31;0.00244)|Breast(41;0.127) CTCAATCACCGTCACTTCAGG 0.542 NA T PDGFRB MPD 26 45 0 0 0 0 PRKCH 5583 broad.mit.edu 37 14 61917604 61917604 + Silent SNP C C T TCGA-CV-6956-01A-21D-2012-08 TCGA-CV-6956-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 9ccee056-124e-40d5-a07d-c208765d8640 d28213c6-eb6f-4348-aca4-6f384a3b6d71 g.chr14:61917604C>T uc001xfn.2 + 6 1052 c.747C>T c.(745-747)AGC>AGT p.S249S PRKCH_uc010tsa.1_Silent_p.S88S NM_006255 NP_006246 P24723 KPCL_HUMAN protein kinase C, eta 249 Phorbol-ester/DAG-type 2. intracellular signal transduction|platelet activation cytosol|plasma membrane ATP binding|enzyme binding|metal ion binding|protein kinase C activity ovary(2)|haematopoietic_and_lymphoid_tissue(1)|lung(1)|large_intestine(1)|skin(1) 6 OV - Ovarian serous cystadenocarcinoma(108;0.045)|BRCA - Breast invasive adenocarcinoma(234;0.0906)|KIRC - Kidney renal clear cell carcinoma(182;0.182) ACAAGTTCAGCATCCACAACT 0.438 NA 23 38 0 0 0 0 ALKBH1 8846 broad.mit.edu 37 14 78161201 78161201 + Nonsense_Mutation SNP C C T TCGA-CV-6956-01A-21D-2012-08 TCGA-CV-6956-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 9ccee056-124e-40d5-a07d-c208765d8640 d28213c6-eb6f-4348-aca4-6f384a3b6d71 g.chr14:78161201C>T uc001xuc.1 - 3 344 c.335G>A c.(334-336)TGG>TAG p.W112* ALKBH1_uc001xud.1_Intron NM_006020 NP_006011 Q13686 ALKB1_HUMAN alkylated DNA repair protein alkB homolog 112 DNA dealkylation involved in DNA repair|DNA demethylation|oxidative demethylation|RNA repair mitochondrion DNA-(apurinic or apyrimidinic site) lyase activity|ferrous iron binding|methylcytosine dioxygenase activity|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen ovary(1)|skin(1) 2 Kidney(204;0.164) BRCA - Breast invasive adenocarcinoma(234;0.0291) CACCCAGTGCCACTGGTAACC 0.418 NA 27 51 0 0 0 0 RCOR1 23186 broad.mit.edu 37 14 103148296 103148296 + Silent SNP A A G TCGA-CV-6956-01A-21D-2012-08 TCGA-CV-6956-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 9ccee056-124e-40d5-a07d-c208765d8640 d28213c6-eb6f-4348-aca4-6f384a3b6d71 g.chr14:103148296A>G uc001ymb.2 + 3 417 c.417A>G c.(415-417)CAA>CAG p.Q139Q NM_015156 NP_055971 Q9UKL0 RCOR1_HUMAN REST corepressor 1 139 Interaction with HDAC1.|ELM2. blood coagulation|histone H4 deacetylation|interspecies interaction between organisms transcriptional repressor complex protein binding|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in negative regulation of transcription|transcription regulatory region DNA binding ovary(1) 1 CACCCAATCAAAATCTGTCAG 0.373 NA 13 18 0 0 0 0 MAGEL2 54551 broad.mit.edu 37 15 23890016 23890016 + Nonsense_Mutation SNP C C T TCGA-CV-6956-01A-21D-2012-08 TCGA-CV-6956-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 9ccee056-124e-40d5-a07d-c208765d8640 d28213c6-eb6f-4348-aca4-6f384a3b6d71 g.chr15:23890016C>T uc001ywj.3 - 1 1160 c.1065G>A c.(1063-1065)TGG>TGA p.W355* NM_019066 NP_061939 MAGE-like protein 2 0 all_cancers(20;1.78e-24)|all_epithelial(15;7.75e-22)|Lung NSC(15;2.96e-18)|all_lung(15;2.8e-17)|Breast(32;0.000625)|Colorectal(260;0.14) all cancers(64;1.84e-06)|Epithelial(43;1.2e-05)|BRCA - Breast invasive adenocarcinoma(123;0.00177) TGGGCCCTTCCCAGCCACTCA 0.672 NA 19 29 0 0 0 0 C15orf55 256646 broad.mit.edu 37 15 34640628 34640628 + Missense_Mutation SNP C C T TCGA-CV-6956-01A-21D-2012-08 TCGA-CV-6956-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 9ccee056-124e-40d5-a07d-c208765d8640 d28213c6-eb6f-4348-aca4-6f384a3b6d71 g.chr15:34640628C>T uc001zif.2 + 2 630 c.475C>T c.(475-477)CCG>TCG p.P159S C15orf55_uc010ucc.1_Missense_Mutation_p.P187S|C15orf55_uc010ucd.1_Missense_Mutation_p.P177S NM_175741 NP_786883 Q86Y26 NUT_HUMAN nuclear protein in testis 159 Pro-rich. cytoplasm|nucleus BRD4_ENST00000263377/C15orf55(24)|BRD3/C15orf55(3) midline_organs(25)|ovary(2)|lung(2)|skin(1) 30 all_lung(180;2.78e-08) all cancers(64;4.53e-18)|GBM - Glioblastoma multiforme(113;8.29e-08)|BRCA - Breast invasive adenocarcinoma(123;0.0249) TCCAGGCCTTCCGCCTCAGCC 0.587 NA T BRD3|BRD4 lethal midline carcinoma 11 28 0 0 0 0 TMEM87A 25963 broad.mit.edu 37 15 42560198 42560198 + Missense_Mutation SNP T T C TCGA-CV-6956-01A-21D-2012-08 TCGA-CV-6956-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 9ccee056-124e-40d5-a07d-c208765d8640 d28213c6-eb6f-4348-aca4-6f384a3b6d71 g.chr15:42560198T>C uc010udd.1 - 3 397 c.238A>G c.(238-240)ATA>GTA p.I80V TMEM87A_uc001zpf.3_Missense_Mutation_p.I19V|TMEM87A_uc010bcu.1_Missense_Mutation_p.I19V|TMEM87A_uc001zpg.2_Missense_Mutation_p.I80V NM_015497 NP_056312 Q8NBN3 TM87A_HUMAN transmembrane protein 87A isoform 1 80 integral to membrane ovary(1) 1 all_cancers(109;4.28e-16)|all_epithelial(112;1.04e-14)|Lung NSC(122;5.01e-09)|all_lung(180;2.24e-08)|Melanoma(134;0.0574)|Colorectal(260;0.152) GBM - Glioblastoma multiforme(94;1.03e-06) TACCAGGTTATATTCAAAGAC 0.259 NA 25 46 0 0 0 0 TRPM7 54822 broad.mit.edu 37 15 50906377 50906378 + Missense_Mutation DNP GC GC AT TCGA-CV-6956-01A-21D-2012-08 TCGA-CV-6956-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 9ccee056-124e-40d5-a07d-c208765d8640 d28213c6-eb6f-4348-aca4-6f384a3b6d71 g.chr15:50906377_50906378GC>AT uc001zyt.3 - 14 1841_1842 c.1577_1578GC>AT c.(1576-1578)TGC>TAT p.C526Y TRPM7_uc010bew.1_Missense_Mutation_p.C526Y|TRPM7_uc001zyu.2_Missense_Mutation_p.C84Y NM_017672 NP_060142 Q96QT4 TRPM7_HUMAN transient receptor potential cation channel, 526 Cytoplasmic (Potential). cell death integral to membrane ATP binding|calcium channel activity|metal ion binding|protein serine/threonine kinase activity ovary(4)|stomach(3)|breast(1)|central_nervous_system(1)|skin(1) 10 all cancers(107;0.000819)|GBM - Glioblastoma multiforme(94;0.0045) TAGTATAGGTGCATCTGTAGGT 0.327 NA 18 38 0 0 0 0 NARG2 79664 broad.mit.edu 37 15 60741642 60741642 + Missense_Mutation SNP C C G TCGA-CV-6956-01A-21D-2012-08 TCGA-CV-6956-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 9ccee056-124e-40d5-a07d-c208765d8640 d28213c6-eb6f-4348-aca4-6f384a3b6d71 g.chr15:60741642C>G uc002agp.2 - 10 1759 c.1524G>C c.(1522-1524)TTG>TTC p.L508F NARG2_uc002ago.2_Missense_Mutation_p.L371F|NARG2_uc002agq.3_Missense_Mutation_p.L176F NM_024611 NP_078887 Q659A1 NARG2_HUMAN NMDA receptor regulated 2 isoform a 508 nucleus ovary(1)|lung(1) 2 CAGATGTTTTCAAGTCACTAT 0.333 NA 28 51 0 0 0 0 C15orf39 56905 broad.mit.edu 37 15 75498857 75498857 + Silent SNP T T C TCGA-CV-6956-01A-21D-2012-08 TCGA-CV-6956-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 9ccee056-124e-40d5-a07d-c208765d8640 d28213c6-eb6f-4348-aca4-6f384a3b6d71 g.chr15:75498857T>C uc002azp.3 + 2 788 c.468T>C c.(466-468)GAT>GAC p.D156D C15orf39_uc002azq.3_Silent_p.D156D|C15orf39_uc002azr.3_5'Flank NM_015492 NP_056307 Q6ZRI6 CO039_HUMAN hypothetical protein LOC56905 156 0 GGCCACTGGATGTTGACTGGA 0.622 NA 37 66 0 0 0 0 CSPG4 1464 broad.mit.edu 37 15 75983101 75983101 + Missense_Mutation SNP G G A TCGA-CV-6956-01A-21D-2012-08 TCGA-CV-6956-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 9ccee056-124e-40d5-a07d-c208765d8640 d28213c6-eb6f-4348-aca4-6f384a3b6d71 g.chr15:75983101G>A uc002baw.2 - 3 398 c.305C>T c.(304-306)ACG>ATG p.T102M NM_001897 NP_001888 Q6UVK1 CSPG4_HUMAN chondroitin sulfate proteoglycan 4 precursor 102 Extracellular (Potential).|Globular or compact configuration stabilized by disulfide bonds.|Laminin G-like 1.|Neurite growth inhibition (By similarity). angiogenesis|cell differentiation|intracellular signal transduction|positive regulation of peptidyl-tyrosine phosphorylation|tissue remodeling apical plasma membrane|cell surface|integral to plasma membrane|intracellular|lamellipodium membrane protein kinase binding|signal transducer activity ovary(2)|pancreas(1) 3 ACTCAGCAGCGTCTCTGCTGG 0.582 NA 29 66 0 0 0 0 XYLT1 64131 broad.mit.edu 37 16 17292261 17292261 + Missense_Mutation SNP T T A TCGA-CV-6956-01A-21D-2012-08 TCGA-CV-6956-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 9ccee056-124e-40d5-a07d-c208765d8640 d28213c6-eb6f-4348-aca4-6f384a3b6d71 g.chr16:17292261T>A uc002dfa.2 - 5 1182 c.1097A>T c.(1096-1098)TAC>TTC p.Y366F NM_022166 NP_071449 Q86Y38 XYLT1_HUMAN xylosyltransferase I 366 Lumenal (Potential). glycosaminoglycan biosynthetic process endoplasmic reticulum membrane|extracellular region|Golgi membrane|integral to membrane acetylglucosaminyltransferase activity|protein xylosyltransferase activity ovary(4) 4 CCGATGCAGGTAATTAGAGCG 0.587 NA 10 17 0 0 0 0 ACSM3 6296 broad.mit.edu 37 16 20797459 20797459 + Silent SNP T T G TCGA-CV-6956-01A-21D-2012-08 TCGA-CV-6956-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 9ccee056-124e-40d5-a07d-c208765d8640 d28213c6-eb6f-4348-aca4-6f384a3b6d71 g.chr16:20797459T>G uc002dhr.2 + 9 1390 c.1203T>G c.(1201-1203)CCT>CCG p.P401P ACSM3_uc002dhq.2_Silent_p.P401P|ACSM3_uc010vba.1_Silent_p.P430P|ERI2_uc002dhs.2_Intron NM_005622 NP_005613 Q53FZ2 ACSM3_HUMAN SA hypertension-associated homolog isoform 1 401 regulation of blood pressure mitochondrial matrix ATP binding|butyrate-CoA ligase activity|metal ion binding ovary(1) 1 TGGGAAAACCTTCTCCTGCTT 0.388 NA 15 23 0 0 0 0 EARS2 124454 broad.mit.edu 37 16 23563530 23563530 + Missense_Mutation SNP C C G TCGA-CV-6956-01A-21D-2012-08 TCGA-CV-6956-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 9ccee056-124e-40d5-a07d-c208765d8640 d28213c6-eb6f-4348-aca4-6f384a3b6d71 g.chr16:23563530C>G uc002dlt.3 - 2 267 c.235G>C c.(235-237)GAT>CAT p.D79H EARS2_uc002dlr.3_5'Flank|EARS2_uc002dls.3_RNA|EARS2_uc002dlu.2_Missense_Mutation_p.D79H NM_001083614 NP_001077083 Q5JPH6 SYEM_HUMAN glutamyl-tRNA synthetase 2 precursor 79 glutamyl-tRNA aminoacylation mitochondrial matrix ATP binding|glutamate-tRNA ligase activity|RNA binding 0 GBM - Glioblastoma multiforme(48;0.0353) L-Glutamic Acid(DB00142) CGAGTCTGATCTGTGTCCTCT 0.547 NA 35 71 0 0 0 0 MAZ 4150 broad.mit.edu 37 16 29820025 29820025 + Missense_Mutation SNP C C G TCGA-CV-6956-01A-21D-2012-08 TCGA-CV-6956-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 9ccee056-124e-40d5-a07d-c208765d8640 d28213c6-eb6f-4348-aca4-6f384a3b6d71 g.chr16:29820025C>G uc002dty.2 + 4 1410 c.1242C>G c.(1240-1242)AGC>AGG p.S414R uc002dtf.2_Intron|BOLA2_uc010bzb.1_Intron|MAZ_uc002dtv.1_Intron|MAZ_uc010vdx.1_Missense_Mutation_p.S391R|MAZ_uc002dtw.2_Intron|MAZ_uc002dtx.2_Missense_Mutation_p.S414R|MAZ_uc010bzg.2_Missense_Mutation_p.S109R|MAZ_uc002dtz.1_3'UTR|MAZ_uc002dua.2_Missense_Mutation_p.S15R|MAZ_uc010vdy.1_Missense_Mutation_p.S15R|uc002duc.1_RNA NM_002383 NP_002374 P56270 MAZ_HUMAN MYC-associated zinc finger protein isoform 1 414 regulation of transcription, DNA-dependent|termination of RNA polymerase II transcription|transcription initiation from RNA polymerase II promoter nucleus DNA binding|protein binding|RNA binding|zinc ion binding ovary(1) 1 AGGTGCACAGCCAGGGTCCTC 0.612 NA 12 18 0 0 0 0 FBXL19 54620 broad.mit.edu 37 16 30958233 30958233 + Missense_Mutation SNP C C G TCGA-CV-6956-01A-21D-2012-08 TCGA-CV-6956-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 9ccee056-124e-40d5-a07d-c208765d8640 d28213c6-eb6f-4348-aca4-6f384a3b6d71 g.chr16:30958233C>G uc002eab.2 + 10 2028 c.1870C>G c.(1870-1872)CCA>GCA p.P624A FBXL19_uc002dzz.1_Missense_Mutation_p.P312A|FBXL19_uc002eaa.1_Missense_Mutation_p.P523A|ORAI3_uc002eac.2_5'Flank NM_001099784 NP_001093254 Q6PCT2 FXL19_HUMAN F-box and leucine-rich repeat protein 19 624 LRR 4. DNA binding|zinc ion binding ovary(2)|lung(1)|breast(1) 4 CCCCACGTCCCCACTCCGCGA 0.682 NA 5 14 0 0 0 0 ACAP1 9744 broad.mit.edu 37 17 7251469 7251469 + Silent SNP C C G TCGA-CV-6956-01A-21D-2012-08 TCGA-CV-6956-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 9ccee056-124e-40d5-a07d-c208765d8640 d28213c6-eb6f-4348-aca4-6f384a3b6d71 g.chr17:7251469C>G uc002ggd.2 + 16 1643 c.1437C>G c.(1435-1437)GTC>GTG p.V479V NM_014716 NP_055531 Q15027 ACAP1_HUMAN centaurin beta1 479 Arf-GAP.|Required for interaction with GULP1. intracellular signal transduction|lipid metabolic process|protein transport|regulation of ARF GTPase activity ARF GTPase activator activity|phospholipase C activity|protein binding|zinc ion binding breast(2)|large_intestine(1) 3 TGGGAAATGTCATCATCAACC 0.617 NA 7 24 0 0 0 0 CNTROB 116840 broad.mit.edu 37 17 7839728 7839728 + Missense_Mutation SNP G G C TCGA-CV-6956-01A-21D-2012-08 TCGA-CV-6956-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 9ccee056-124e-40d5-a07d-c208765d8640 d28213c6-eb6f-4348-aca4-6f384a3b6d71 g.chr17:7839728G>C uc002gjq.2 + 6 1558 c.639G>C c.(637-639)GAG>GAC p.E213D CNTROB_uc002gjp.2_Missense_Mutation_p.E213D|CNTROB_uc002gjr.2_Missense_Mutation_p.E115D|CNTROB_uc010vum.1_5'Flank NM_053051 NP_444279 Q8N137 CNTRB_HUMAN centrobin, centrosomal BRCA2 interacting protein 213 Potential. centriole replication|centrosome separation|cytokinesis centriole protein domain specific binding breast(1)|central_nervous_system(1) 2 Prostate(122;0.173) GAGTGTTAGAGCTACAGCAAC 0.527 NA 38 98 0 0 0 0 RASD1 51655 broad.mit.edu 37 17 17399294 17399294 + Missense_Mutation SNP G G T TCGA-CV-6956-01A-21D-2012-08 TCGA-CV-6956-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 9ccee056-124e-40d5-a07d-c208765d8640 d28213c6-eb6f-4348-aca4-6f384a3b6d71 g.chr17:17399294G>T uc002gri.2 - 1 414 c.202C>A c.(202-204)CGC>AGC p.R68S NM_016084 NP_057168 Q9Y272 RASD1_HUMAN RAS, dexamethasone-induced 1 precursor 68 G-protein coupled receptor protein signaling pathway|small GTPase mediated signal transduction nucleus|perinuclear region of cytoplasm|plasma membrane GTP binding|GTPase activity 0 ACCTCGCCGCGGATGGAGTAG 0.672 NA 15 72 3.41e-10 3.79e-10 1 0 PRPSAP2 5636 broad.mit.edu 37 17 18833957 18833957 + Silent SNP C C T TCGA-CV-6956-01A-21D-2012-08 TCGA-CV-6956-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 9ccee056-124e-40d5-a07d-c208765d8640 d28213c6-eb6f-4348-aca4-6f384a3b6d71 g.chr17:18833957C>T uc002gup.1 + 12 1267 c.1056C>T c.(1054-1056)ATC>ATT p.I352I PRPSAP2_uc002guo.1_Silent_p.I266I|PRPSAP2_uc010vyi.1_Silent_p.I300I|PRPSAP2_uc010vyj.1_Silent_p.I266I|PRPSAP2_uc010vyk.1_Silent_p.I291I|PRPSAP2_uc002guq.1_Silent_p.I139I NM_002767 NP_002758 O60256 KPRB_HUMAN phosphoribosyl pyrophosphate 352 nucleotide biosynthetic process enzyme inhibitor activity|magnesium ion binding|ribose phosphate diphosphokinase activity skin(1) 1 TCCGTCGGATCCACAATGGGG 0.458 NA 12 23 0 0 0 0 CYTSB 92521 broad.mit.edu 37 17 20108048 20108048 + Missense_Mutation SNP T T C TCGA-CV-6956-01A-21D-2012-08 TCGA-CV-6956-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 9ccee056-124e-40d5-a07d-c208765d8640 d28213c6-eb6f-4348-aca4-6f384a3b6d71 g.chr17:20108048T>C uc002gwq.2 + 4 831 c.686T>C c.(685-687)CTT>CCT p.L229P CYTSB_uc010cqx.2_Missense_Mutation_p.L229P|CYTSB_uc002gwr.2_Missense_Mutation_p.L229P|CYTSB_uc002gws.2_Missense_Mutation_p.L229P|CYTSB_uc002gwv.2_Missense_Mutation_p.L148P|CYTSB_uc010vzf.1_Intron|CYTSB_uc002gww.2_Missense_Mutation_p.L5P|CYTSB_uc002gwt.2_Missense_Mutation_p.L148P|CYTSB_uc002gwu.2_Missense_Mutation_p.L148P NM_001033553 NP_001028725 Q5M775 CYTSB_HUMAN spectrin domain with coiled-coils 1 NSP5b3b 229 nucleus 0 ATAAGAGCTCTTGAGGAGAAG 0.478 NA 33 153 0 0 0 0 SEZ6 124925 broad.mit.edu 37 17 27283247 27283247 + Missense_Mutation SNP C C G TCGA-CV-6956-01A-21D-2012-08 TCGA-CV-6956-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 9ccee056-124e-40d5-a07d-c208765d8640 d28213c6-eb6f-4348-aca4-6f384a3b6d71 g.chr17:27283247C>G uc002hdp.2 - 16 3076 c.2882G>C c.(2881-2883)CGC>CCC p.R961P SEZ6_uc010crx.1_Intron|SEZ6_uc002hdm.2_RNA|SEZ6_uc010cry.1_Missense_Mutation_p.R961P|SEZ6_uc002hdq.1_Missense_Mutation_p.R836P NM_178860 NP_849191 Q53EL9 SEZ6_HUMAN seizure related 6 homolog isoform 1 961 Cytoplasmic (Potential). integral to membrane|plasma membrane large_intestine(1)|central_nervous_system(1) 2 Lung NSC(42;0.0137) Epithelial(11;4.73e-06)|all cancers(11;2.91e-05)|BRCA - Breast invasive adenocarcinoma(11;8.06e-05)|OV - Ovarian serous cystadenocarcinoma(11;0.111) ggggcgggggcggggCAGCTG 0.478 NA 3 13 0 0 0 0 GGNBP2 79893 broad.mit.edu 37 17 34943490 34943490 + Missense_Mutation SNP C C T TCGA-CV-6956-01A-21D-2012-08 TCGA-CV-6956-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 9ccee056-124e-40d5-a07d-c208765d8640 d28213c6-eb6f-4348-aca4-6f384a3b6d71 g.chr17:34943490C>T uc002hnb.2 + 13 1954 c.1705C>T c.(1705-1707)CAC>TAC p.H569Y NM_024835 NP_079111 Q9H3C7 GGNB2_HUMAN zinc finger protein 403 569 cell differentiation|multicellular organismal development|spermatogenesis cytoplasmic membrane-bounded vesicle ovary(2) 2 Breast(25;0.00957)|Ovarian(249;0.17) UCEC - Uterine corpus endometrioid carcinoma (308;0.0193) AAATACCATGCACACAGTGTT 0.463 NA 14 64 0 0 0 0 KRT25 147183 broad.mit.edu 37 17 38910653 38910653 + Missense_Mutation SNP T T G TCGA-CV-6956-01A-21D-2012-08 TCGA-CV-6956-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 9ccee056-124e-40d5-a07d-c208765d8640 d28213c6-eb6f-4348-aca4-6f384a3b6d71 g.chr17:38910653T>G uc002hve.2 - 2 558 c.497A>C c.(496-498)GAT>GCT p.D166A NM_181534 NP_853512 Q7Z3Z0 K1C25_HUMAN keratin 25 166 Rod.|Coil 1B. cytoplasm|intermediate filament structural molecule activity ovary(2) 2 Breast(137;0.00526) TCTGAAATCATCAGCTGTAAG 0.383 NA 29 67 0 0 0 0 PLEKHH3 79990 broad.mit.edu 37 17 40823110 40823111 + Missense_Mutation DNP CC CC GT TCGA-CV-6956-01A-21D-2012-08 TCGA-CV-6956-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 9ccee056-124e-40d5-a07d-c208765d8640 d28213c6-eb6f-4348-aca4-6f384a3b6d71 g.chr17:40823110_40823111CC>GT uc002iau.2 - 9 1789_1790 c.1322_1323GG>AC c.(1321-1323)CGG>CAC p.R441H PLEKHH3_uc010cyl.1_Intron|PLEKHH3_uc002iat.1_RNA|PLEKHH3_uc002iav.2_RNA|PLEKHH3_uc010cym.1_Intron|PLEKHH3_uc002iaw.2_Missense_Mutation_p.R441H NM_024927 NP_079203 Q7Z736 PKHH3_HUMAN pleckstrin homology domain containing, family H 441 FERM. signal transduction cytoskeleton large_intestine(1)|ovary(1) 2 Breast(137;0.00116) BRCA - Breast invasive adenocarcinoma(366;0.14) CGTTGCGGCTCCGGGCCAAGCC 0.663 NA 33 56 0 0 0 0 MARCH10 162333 broad.mit.edu 37 17 60821758 60821758 + Missense_Mutation SNP C C A TCGA-CV-6956-01A-21D-2012-08 TCGA-CV-6956-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 9ccee056-124e-40d5-a07d-c208765d8640 d28213c6-eb6f-4348-aca4-6f384a3b6d71 g.chr17:60821758C>A uc010ddr.2 - 5 752 c.514G>T c.(514-516)GTG>TTG p.V172L MARCH10_uc002jag.3_Missense_Mutation_p.V172L|MARCH10_uc010dds.2_Missense_Mutation_p.V210L|MARCH10_uc002jah.2_Missense_Mutation_p.V171L NM_001100875 NP_001094345 Q8NA82 MARHA_HUMAN ring finger protein 190 172 ligase activity|zinc ion binding 0 GGAACCGGCACCTTTGCAGGC 0.557 NA 52 96 3.89e-19 4.56e-19 1 0 TEX2 55852 broad.mit.edu 37 17 62290905 62290905 + Missense_Mutation SNP T T A TCGA-CV-6956-01A-21D-2012-08 TCGA-CV-6956-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 9ccee056-124e-40d5-a07d-c208765d8640 d28213c6-eb6f-4348-aca4-6f384a3b6d71 g.chr17:62290905T>A uc002jec.2 - 2 846 c.673A>T c.(673-675)ACT>TCT p.T225S TEX2_uc002jed.2_Missense_Mutation_p.T225S|TEX2_uc002jee.2_Missense_Mutation_p.T225S NM_018469 NP_060939 Q8IWB9 TEX2_HUMAN testis expressed sequence 2 225 signal transduction|sphingolipid metabolic process integral to membrane ovary(1) 1 BRCA - Breast invasive adenocarcinoma(8;1.33e-10) READ - Rectum adenocarcinoma(1115;0.0689) TGCCGGGAAGTGTCCGTGGAC 0.532 NA 41 58 0 0 0 0 SLC16A6 9120 broad.mit.edu 37 17 66267356 66267356 + Silent SNP G G A TCGA-CV-6956-01A-21D-2012-08 TCGA-CV-6956-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 9ccee056-124e-40d5-a07d-c208765d8640 d28213c6-eb6f-4348-aca4-6f384a3b6d71 g.chr17:66267356G>A uc002jgz.1 - 5 1133 c.945C>T c.(943-945)ATC>ATT p.I315I ARSG_uc002jhc.2_Intron|SLC16A6_uc002jha.1_Silent_p.I315I NM_004694 NP_004685 O15403 MOT7_HUMAN solute carrier family 16, member 6 315 Helical; (Potential). integral to plasma membrane|membrane fraction monocarboxylic acid transmembrane transporter activity|symporter activity 0 all_cancers(12;1.24e-09) BRCA - Breast invasive adenocarcinoma(8;3.17e-08)|LUSC - Lung squamous cell carcinoma(166;0.24) Pyruvic acid(DB00119) CCAGAGGAATGATGTACAAGG 0.423 NA 12 24 0 0 0 0 MC5R 4161 broad.mit.edu 37 18 13826439 13826439 + Silent SNP C C A TCGA-CV-6956-01A-21D-2012-08 TCGA-CV-6956-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 9ccee056-124e-40d5-a07d-c208765d8640 d28213c6-eb6f-4348-aca4-6f384a3b6d71 g.chr18:13826439C>A uc010xaf.1 + 1 675 c.675C>A c.(673-675)GCC>GCA p.A225A NM_005913 NP_005904 P33032 MC5R_HUMAN melanocortin 5 receptor 225 Cytoplasmic (Potential). ALPGASSARQRTSM -> LCPGPALRGRGPAW (in Ref. 1). G-protein signaling, coupled to cyclic nucleotide second messenger|positive regulation of cAMP biosynthetic process integral to plasma membrane melanocortin receptor activity|protein binding ovary(3)|lung(2)|breast(1) 6 TGCCCGGGGCCAGCTCTGCGC 0.622 NA 87 179 3.56e-28 4.21e-28 1 0 ZNF521 25925 broad.mit.edu 37 18 22807174 22807174 + Silent SNP C C T TCGA-CV-6956-01A-21D-2012-08 TCGA-CV-6956-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 9ccee056-124e-40d5-a07d-c208765d8640 d28213c6-eb6f-4348-aca4-6f384a3b6d71 g.chr18:22807174C>T uc002kvk.2 - 4 955 c.708G>A c.(706-708)AGG>AGA p.R236R ZNF521_uc010xbe.1_RNA|ZNF521_uc010dly.2_Silent_p.R236R|ZNF521_uc002kvl.2_Silent_p.R16R NM_015461 NP_056276 Q96K83 ZN521_HUMAN zinc finger protein 521 236 cell differentiation|multicellular organismal development|regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|protein domain specific binding|zinc ion binding ovary(4)|large_intestine(2)|lung(1) 7 all_cancers(21;0.0025)|all_epithelial(16;3.62e-05)|Ovarian(20;0.0991) AGTCCTCCATCCTGGAACCGG 0.522 NA T PAX5 ALL 13 67 0 0 0 0 NARS 4677 broad.mit.edu 37 18 55283091 55283091 + Missense_Mutation SNP C C A TCGA-CV-6956-01A-21D-2012-08 TCGA-CV-6956-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 9ccee056-124e-40d5-a07d-c208765d8640 d28213c6-eb6f-4348-aca4-6f384a3b6d71 g.chr18:55283091C>A uc002lgs.2 - 3 438 c.210G>T c.(208-210)TGG>TGT p.W70C NARS_uc002lgt.2_Missense_Mutation_p.W69C|NARS_uc010xea.1_5'UTR|NARS_uc010xeb.1_RNA|NARS_uc010xec.1_Missense_Mutation_p.W70C|NARS_uc010xed.1_Missense_Mutation_p.W37C NM_004539 NP_004530 O43776 SYNC_HUMAN asparaginyl-tRNA synthetase 70 asparaginyl-tRNA aminoacylation cytosol|soluble fraction asparagine-tRNA ligase activity|ATP binding|nucleic acid binding|protein binding 0 Colorectal(73;0.227) L-Asparagine(DB00174) GTTCCCTATGCCACATCTTTT 0.388 NA 22 55 1.87e-06 2.01e-06 1 0 LRG1 116844 broad.mit.edu 37 19 4538051 4538051 + Silent SNP C C T TCGA-CV-6956-01A-21D-2012-08 TCGA-CV-6956-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 9ccee056-124e-40d5-a07d-c208765d8640 d28213c6-eb6f-4348-aca4-6f384a3b6d71 g.chr19:4538051C>T uc002mau.2 - 2 956 c.945G>A c.(943-945)CAG>CAA p.Q315Q PLIN5_uc002mas.2_5'Flank|PLIN5_uc002mat.1_Intron NM_052972 NP_443204 P02750 A2GL_HUMAN leucine-rich alpha-2-glycoprotein 1 precursor 315 LRRCT. extracellular region|membrane ovary(1) 1 Hepatocellular(1079;0.137) UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.0148)|STAD - Stomach adenocarcinoma(1328;0.18) CTTTTTGGGCCTGAAGCCAAC 0.592 NA 40 35 0 0 0 0 MUC16 94025 broad.mit.edu 37 19 9088493 9088493 + Missense_Mutation SNP C C G TCGA-CV-6956-01A-21D-2012-08 TCGA-CV-6956-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 9ccee056-124e-40d5-a07d-c208765d8640 d28213c6-eb6f-4348-aca4-6f384a3b6d71 g.chr19:9088493C>G uc002mkp.2 - 1 3526 c.3322G>C c.(3322-3324)GAT>CAT p.D1108H NM_024690 NP_078966 Q8WXI7 MUC16_HUMAN mucin 16 1108 Thr-rich.|Extracellular (Potential). cell adhesion extracellular space|extrinsic to membrane|integral to membrane|plasma membrane protein binding lung(30)|ovary(15)|breast(8)|large_intestine(1)|skin(1)|prostate(1)|pancreas(1) 57 TAGACATCATCAGAAAATGTG 0.443 NA 18 36 0 0 0 0 PPAN-P2RY11 692312 broad.mit.edu 37 19 10225320 10225320 + Missense_Mutation SNP C C G TCGA-CV-6956-01A-21D-2012-08 TCGA-CV-6956-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 9ccee056-124e-40d5-a07d-c208765d8640 d28213c6-eb6f-4348-aca4-6f384a3b6d71 g.chr19:10225320C>G uc002mna.2 + 13 2291 c.2291C>G c.(2290-2292)CCA>CGA p.P764R PPAN-P2RY11_uc010xla.1_3'UTR|P2RY11_uc002mnc.2_Missense_Mutation_p.P344R NM_001040664 NP_001035754 Q9NQ55 SSF1_HUMAN PPAN-P2RY11 protein Error:Variant_position_missing_in_Q9NQ55_after_alignment RNA splicing nucleolus protein binding ovary(2) 2 OV - Ovarian serous cystadenocarcinoma(20;2.19e-08)|Epithelial(33;1.76e-05)|all cancers(31;3.54e-05) AGCTGGAACCCAGAGGACGCC 0.657 NA 14 50 0 0 0 0 ZNF763 284390 broad.mit.edu 37 19 12088200 12088200 + Missense_Mutation SNP G G T TCGA-CV-6956-01A-21D-2012-08 TCGA-CV-6956-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 9ccee056-124e-40d5-a07d-c208765d8640 d28213c6-eb6f-4348-aca4-6f384a3b6d71 g.chr19:12088200G>T uc002msw.2 + 3 300 c.145G>T c.(145-147)GAC>TAC p.D49Y ZNF763_uc010xmf.1_Missense_Mutation_p.D69Y|ZNF763_uc002msv.2_Missense_Mutation_p.D52Y|ZNF763_uc010xmg.1_Intron NM_001012753 NP_001012771 Q0D2J5 ZN763_HUMAN zinc finger protein 763 49 KRAB. regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding central_nervous_system(1) 1 AAAGTGGAAAGACCAGAACAT 0.333 NA 18 32 2.35e-11 2.63e-11 1 0 SYDE1 85360 broad.mit.edu 37 19 15222125 15222125 + Missense_Mutation SNP T T C TCGA-CV-6956-01A-21D-2012-08 TCGA-CV-6956-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 9ccee056-124e-40d5-a07d-c208765d8640 d28213c6-eb6f-4348-aca4-6f384a3b6d71 g.chr19:15222125T>C uc002nah.1 + 5 1323 c.1292T>C c.(1291-1293)GTA>GCA p.V431A SYDE1_uc002nai.1_Missense_Mutation_p.V364A|SYDE1_uc002naj.1_Missense_Mutation_p.V88A NM_033025 NP_149014 Q6ZW31 SYDE1_HUMAN synapse defective 1, Rho GTPase, homolog 1 431 Rho-GAP. activation of Rho GTPase activity|small GTPase mediated signal transduction cytosol Rho GTPase activator activity ovary(1)|pancreas(1) 2 CACCCCCAGGTAGTGGGACTG 0.587 NA 33 22 0 0 0 0 ATP13A1 57130 broad.mit.edu 37 19 19766741 19766741 + Silent SNP C C G TCGA-CV-6956-01A-21D-2012-08 TCGA-CV-6956-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 9ccee056-124e-40d5-a07d-c208765d8640 d28213c6-eb6f-4348-aca4-6f384a3b6d71 g.chr19:19766741C>G uc002nnh.3 - 9 1243 c.1215G>C c.(1213-1215)CCG>CCC p.P405P ATP13A1_uc002nnf.3_5'Flank|ATP13A1_uc002nng.2_Silent_p.P287P NM_020410 NP_065143 Q9HD20 AT131_HUMAN ATPase type 13A1 405 Extracellular (Potential). ATP biosynthetic process|cation transport integral to membrane ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|metal ion binding p.?(1) ovary(3)|large_intestine(2)|central_nervous_system(1) 6 CGCTGTCAACCGCTGGGGAGA 0.652 NA 4 16 0 0 0 0 APLP1 333 broad.mit.edu 37 19 36368688 36368688 + Missense_Mutation SNP G G A rs142258705 TCGA-CV-6956-01A-21D-2012-08 TCGA-CV-6956-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 9ccee056-124e-40d5-a07d-c208765d8640 d28213c6-eb6f-4348-aca4-6f384a3b6d71 g.chr19:36368688G>A uc002oce.2 + 12 1651 c.1513G>A c.(1513-1515)GAG>AAG p.E505K APLP1_uc010xsz.1_Missense_Mutation_p.E466K|APLP1_uc002ocf.2_Missense_Mutation_p.E505K|APLP1_uc002ocg.2_Missense_Mutation_p.E408K|APLP1_uc010xta.1_Missense_Mutation_p.E499K NM_005166 NP_005157 P51693 APLP1_HUMAN amyloid precursor-like protein 1 isoform 2 505 Extracellular (Potential). apoptosis|cell adhesion|cellular response to norepinephrine stimulus|endocytosis|negative regulation of cAMP biosynthetic process|nervous system development|organ morphogenesis basement membrane|integral to membrane|perinuclear region of cytoplasm|plasma membrane alpha-2A adrenergic receptor binding|alpha-2B adrenergic receptor binding|alpha-2C adrenergic receptor binding|heparin binding|identical protein binding|metal ion binding ovary(2) 2 all_lung(56;7.14e-07)|Lung NSC(56;1.12e-06)|Esophageal squamous(110;0.162) LUSC - Lung squamous cell carcinoma(66;0.0515) GGGCAGCAGCGAGGACAAGGG 0.582 NA 17 44 0 0 0 0 ZNF571 51276 broad.mit.edu 37 19 38057174 38057174 + Silent SNP C C T TCGA-CV-6956-01A-21D-2012-08 TCGA-CV-6956-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 9ccee056-124e-40d5-a07d-c208765d8640 d28213c6-eb6f-4348-aca4-6f384a3b6d71 g.chr19:38057174C>T uc002ogt.2 - 4 257 c.156G>A c.(154-156)GTG>GTA p.V52V uc002ogm.2_Intron|uc002ogn.2_Intron|ZNF540_uc002ogo.2_Intron|ZNF540_uc002ogp.2_Intron|ZNF540_uc002ogq.2_Intron|ZNF571_uc002ogr.1_Intron|uc002ogs.1_5'Flank|ZNF571_uc010efp.2_Silent_p.V52V NM_016536 NP_057620 Q7Z3V5 ZN571_HUMAN zinc finger protein 571 52 KRAB. regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding 0 COAD - Colon adenocarcinoma(19;0.114)|Colorectal(19;0.177) ACTTTTTGGTCACACAACTGG 0.338 NA 16 51 0 0 0 0 PSG6 5675 broad.mit.edu 37 19 43529018 43529018 + Silent SNP G G A rs138426313 TCGA-CV-6956-01A-21D-2012-08 TCGA-CV-6956-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 9ccee056-124e-40d5-a07d-c208765d8640 d28213c6-eb6f-4348-aca4-6f384a3b6d71 g.chr19:43529018G>A uc002ovh.1 - 2 362 c.273C>T c.(271-273)GAC>GAT p.D91D PSG11_uc002ouw.2_Silent_p.D91D|PSG10_uc002ouv.1_Intron|PSG6_uc002ovi.2_Intron|PSG6_uc010xwk.1_Intron|PSG11_uc002ovk.1_Silent_p.D91D|PSG11_uc002ovm.1_Silent_p.D85D|PSG11_uc002ovn.1_Silent_p.D91D|PSG11_uc002ovo.1_Intron|PSG11_uc002ovp.1_Intron Q00889 PSG6_HUMAN SubName: Full=Putative uncharacterized protein PSG6; Error:AA_residue_mismatch_between_GAF_and_UniProt_prot_seqs_after_alignment female pregnancy extracellular region ovary(1)|skin(1) 2 Prostate(69;0.00899) TTATTTGACCGTCTACTACAT 0.443 NA 56 179 0 0 0 0 TEX101 83639 broad.mit.edu 37 19 43920656 43920656 + Missense_Mutation SNP T T C TCGA-CV-6956-01A-21D-2012-08 TCGA-CV-6956-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 9ccee056-124e-40d5-a07d-c208765d8640 d28213c6-eb6f-4348-aca4-6f384a3b6d71 g.chr19:43920656T>C uc010xwo.1 + 4 535 c.340T>C c.(340-342)TGT>CGT p.C114R TEX101_uc002owk.2_Missense_Mutation_p.C132R NM_001130011 NP_001123483 Q9BY14 TX101_HUMAN testis expressed 101 isoform 2 114 anchored to membrane|plasma membrane ovary(1) 1 Prostate(69;0.0199) GGATTCCTTCTGTAATGACAA 0.507 NA 98 142 0 0 0 0 FOSB 2354 broad.mit.edu 37 19 45971882 45971882 + Missense_Mutation SNP C C T TCGA-CV-6956-01A-21D-2012-08 TCGA-CV-6956-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 9ccee056-124e-40d5-a07d-c208765d8640 d28213c6-eb6f-4348-aca4-6f384a3b6d71 g.chr19:45971882C>T uc002pbx.3 + 1 630 c.38C>T c.(37-39)TCC>TTC p.S13F ERCC1_uc002pbu.1_Intron|FOSB_uc002pbw.2_Missense_Mutation_p.S13F|FOSB_uc010eke.2_Missense_Mutation_p.S13F|FOSB_uc002pby.3_Missense_Mutation_p.S13F|FOSB_uc010eka.1_Missense_Mutation_p.S13F|FOSB_uc010ekb.1_Missense_Mutation_p.S13F|FOSB_uc010ekc.1_Missense_Mutation_p.S13F|FOSB_uc010ekf.2_Missense_Mutation_p.S13F|FOSB_uc010ekd.1_Missense_Mutation_p.S13F|FOSB_uc010ekg.2_Missense_Mutation_p.S13F|FOSB_uc002pca.3_5'Flank NM_006732 NP_006723 P53539 FOSB_HUMAN FBJ murine osteosarcoma viral oncogene homolog B 13 behavior|multicellular organismal development|negative regulation of transcription from RNA polymerase II promoter nucleus protein dimerization activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription factor binding ovary(2)|lung(1) 3 Ovarian(192;0.051)|all_neural(266;0.112) OV - Ovarian serous cystadenocarcinoma(262;0.00814)|Epithelial(262;0.18)|GBM - Glioblastoma multiforme(486;0.242) GACTCCGGCTCCCGGTGCAGC 0.632 NA 56 66 0 0 0 0 ZNF347 84671 broad.mit.edu 37 19 53644866 53644866 + Missense_Mutation SNP T T A TCGA-CV-6956-01A-21D-2012-08 TCGA-CV-6956-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 9ccee056-124e-40d5-a07d-c208765d8640 d28213c6-eb6f-4348-aca4-6f384a3b6d71 g.chr19:53644866T>A uc002qbb.1 - 5 1284 c.1215A>T c.(1213-1215)GAA>GAT p.E405D ZNF347_uc010eql.1_Missense_Mutation_p.E406D|ZNF347_uc002qbc.1_Missense_Mutation_p.E406D NM_032584 NP_115973 Q96SE7 ZN347_HUMAN zinc finger protein 347 405 C2H2-type 6. regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding 0 GBM - Glioblastoma multiforme(134;0.0179) CCTTGCCACATTCATTACATT 0.423 NA 42 60 0 0 0 0 NLRP11 204801 broad.mit.edu 37 19 56303779 56303779 + Missense_Mutation SNP A A G TCGA-CV-6956-01A-21D-2012-08 TCGA-CV-6956-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 9ccee056-124e-40d5-a07d-c208765d8640 d28213c6-eb6f-4348-aca4-6f384a3b6d71 g.chr19:56303779A>G uc010ygf.1 - 9 3112 c.2401T>C c.(2401-2403)TTC>CTC p.F801L NLRP11_uc002qlz.2_Missense_Mutation_p.F648L|NLRP11_uc002qmb.2_Missense_Mutation_p.F702L|NLRP11_uc002qmc.2_RNA|NLRP11_uc010ete.1_RNA NM_145007 NP_659444 P59045 NAL11_HUMAN NLR family, pyrin domain containing 11 801 ATP binding ovary(3)|upper_aerodigestive_tract(1)|central_nervous_system(1)|skin(1) 6 Colorectal(82;0.0002) GBM - Glioblastoma multiforme(193;0.0325) GTTGGGCTGAACAGAAGCACT 0.473 NA 9 78 0 0 0 0 ZNF71 58491 broad.mit.edu 37 19 57133864 57133864 + Silent SNP G G T TCGA-CV-6956-01A-21D-2012-08 TCGA-CV-6956-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 9ccee056-124e-40d5-a07d-c208765d8640 d28213c6-eb6f-4348-aca4-6f384a3b6d71 g.chr19:57133864G>T uc002qnm.3 + 3 1447 c.1209G>T c.(1207-1209)GTG>GTT p.V403V NM_021216 NP_067039 Q9NQZ8 ZNF71_HUMAN zinc finger protein 71 403 C2H2-type 10. nucleus DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding skin(1) 1 GBM - Glioblastoma multiforme(193;0.062)|Lung(386;0.0681)|LUSC - Lung squamous cell carcinoma(496;0.18) ACCAGATCGTGCACACCGGGG 0.647 NA 15 47 8.6e-14 9.8e-14 1 0 OTOF 9381 broad.mit.edu 37 2 26702480 26702480 + Silent SNP G G T TCGA-CV-6956-01A-21D-2012-08 TCGA-CV-6956-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 9ccee056-124e-40d5-a07d-c208765d8640 d28213c6-eb6f-4348-aca4-6f384a3b6d71 g.chr2:26702480G>T uc002rhk.2 - 17 2081 c.1954C>A c.(1954-1956)CGG>AGG p.R652R OTOF_uc002rhh.2_5'Flank|OTOF_uc002rhi.2_5'Flank|OTOF_uc002rhj.2_5'Flank NM_194248 NP_919224 Q9HC10 OTOF_HUMAN otoferlin isoform a 652 Cytoplasmic (Potential). cellular membrane fusion|sensory perception of sound|synaptic vesicle exocytosis basolateral plasma membrane|cell junction|cytosol|endoplasmic reticulum membrane|integral to membrane|membrane fraction|synaptic vesicle membrane calcium ion binding ovary(3)|breast(2)|central_nervous_system(1)|pancreas(1) 7 Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215) GGCCGAGGCCGCTGGGGCCGG 0.642 NA 22 38 2.45e-14 2.8e-14 1 0 GPR75 10936 broad.mit.edu 37 2 54080317 54080317 + Missense_Mutation SNP T T C TCGA-CV-6956-01A-21D-2012-08 TCGA-CV-6956-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 9ccee056-124e-40d5-a07d-c208765d8640 d28213c6-eb6f-4348-aca4-6f384a3b6d71 g.chr2:54080317T>C uc002rxo.3 - 2 1848 c.1577A>G c.(1576-1578)GAA>GGA p.E526G ASB3_uc002rxi.3_Intron NM_006794 NP_006785 O95800 GPR75_HUMAN G protein-coupled receptor 75 526 Cytoplasmic (Potential). integral to plasma membrane G-protein coupled receptor activity ovary(1)|skin(1) 2 Lung(47;0.125)|LUSC - Lung squamous cell carcinoma(58;0.181) GCTGTCATATTCCTGCACTAA 0.408 NA 29 70 0 0 0 0 AFTPH 54812 broad.mit.edu 37 2 64780007 64780007 + Missense_Mutation SNP C C T TCGA-CV-6956-01A-21D-2012-08 TCGA-CV-6956-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 9ccee056-124e-40d5-a07d-c208765d8640 d28213c6-eb6f-4348-aca4-6f384a3b6d71 g.chr2:64780007C>T uc002sdc.2 + 1 1431 c.1399C>T c.(1399-1401)CAC>TAC p.H467Y AFTPH_uc002scz.2_Missense_Mutation_p.H467Y|AFTPH_uc002sda.2_Missense_Mutation_p.H467Y|AFTPH_uc002sdb.2_Missense_Mutation_p.H467Y NM_203437 NP_982261 Q6ULP2 AFTIN_HUMAN aftiphilin protein isoform a 467 protein transport AP-1 adaptor complex|cytosol|nucleus clathrin binding ovary(2) 2 GTCTTCAGAGCACTTTCCACA 0.413 NA 33 58 0 0 0 0 WDR54 84058 broad.mit.edu 37 2 74652827 74652827 + Nonstop_Mutation SNP G G C TCGA-CV-6956-01A-21D-2012-08 TCGA-CV-6956-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 9ccee056-124e-40d5-a07d-c208765d8640 d28213c6-eb6f-4348-aca4-6f384a3b6d71 g.chr2:74652827G>C uc002slb.2 + 10 1064 c.1004G>C c.(1003-1005)TGA>TCA p.*335S NM_032118 NP_115494 Q9H977 WDR54_HUMAN WD repeat domain 54 335 0 AGCAGTGTGTGAGAAGAGCAG 0.507 NA 71 98 0 0 0 0 MYO7B 4648 broad.mit.edu 37 2 128384629 128384629 + Missense_Mutation SNP T T A TCGA-CV-6956-01A-21D-2012-08 TCGA-CV-6956-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 9ccee056-124e-40d5-a07d-c208765d8640 d28213c6-eb6f-4348-aca4-6f384a3b6d71 g.chr2:128384629T>A uc002top.2 + 31 4270 c.4217T>A c.(4216-4218)CTG>CAG p.L1406Q MYO7B_uc002toq.1_Missense_Mutation_p.L259Q|MYO7B_uc002tor.1_Missense_Mutation_p.L259Q NM_001080527 NP_001073996 Q6PIF6 MYO7B_HUMAN myosin VIIB 1406 FERM 1. apical plasma membrane|myosin complex actin binding|ATP binding|motor activity ovary(1)|pancreas(1) 2 Colorectal(110;0.1) BRCA - Breast invasive adenocarcinoma(221;0.0753) CAGTGGCCGCTGCTCTTCTCC 0.637 NA 7 12 0 0 0 0 RAB3GAP1 22930 broad.mit.edu 37 2 135851202 135851202 + Missense_Mutation SNP A A T TCGA-CV-6956-01A-21D-2012-08 TCGA-CV-6956-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 9ccee056-124e-40d5-a07d-c208765d8640 d28213c6-eb6f-4348-aca4-6f384a3b6d71 g.chr2:135851202A>T uc002tuj.2 + 5 326 c.301A>T c.(301-303)ATG>TTG p.M101L RAB3GAP1_uc010fnf.2_Missense_Mutation_p.M101L|RAB3GAP1_uc010fng.2_5'UTR|RAB3GAP1_uc010fnh.1_RNA NM_012233 NP_036365 Q15042 RB3GP_HUMAN RAB3 GTPase-activating protein 101 centrosome|nucleus|soluble fraction Rab GTPase activator activity|Rab GTPase binding ovary(1)|skin(1) 2 BRCA - Breast invasive adenocarcinoma(221;0.117) TCCACAATCTATGCAAGATTT 0.338 NA 21 39 0 0 0 0 NEB 4703 broad.mit.edu 37 2 152397296 152397296 + Missense_Mutation SNP G G T TCGA-CV-6956-01A-21D-2012-08 TCGA-CV-6956-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 9ccee056-124e-40d5-a07d-c208765d8640 d28213c6-eb6f-4348-aca4-6f384a3b6d71 g.chr2:152397296G>T uc010fnx.2 - 109 15790 c.15599C>A c.(15598-15600)GCC>GAC p.A5200D NEB_uc002txr.2_Missense_Mutation_p.A1623D NM_004543 NP_004534 P20929 NEBU_HUMAN nebulin isoform 3 5200 Nebulin 141. muscle filament sliding|muscle organ development|regulation of actin filament length|somatic muscle development actin cytoskeleton|cytosol|Z disc actin binding|structural constituent of muscle ovary(8)|large_intestine(5)|breast(3)|central_nervous_system(2)|skin(1)|pancreas(1) 20 BRCA - Breast invasive adenocarcinoma(221;0.219) CTCTTTGGTGGCAAGTTCAAC 0.413 NA 26 45 2.8e-10 3.11e-10 1 0 SCN3A 6328 broad.mit.edu 37 2 166003416 166003416 + Nonsense_Mutation SNP G G A TCGA-CV-6956-01A-21D-2012-08 TCGA-CV-6956-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 9ccee056-124e-40d5-a07d-c208765d8640 d28213c6-eb6f-4348-aca4-6f384a3b6d71 g.chr2:166003416G>A uc002ucx.2 - 12 1996 c.1504C>T c.(1504-1506)CGA>TGA p.R502* SCN3A_uc002ucy.2_Nonsense_Mutation_p.R502*|SCN3A_uc002ucz.2_Nonsense_Mutation_p.R502*|SCN3A_uc002uda.1_Nonsense_Mutation_p.R371*|SCN3A_uc002udb.1_Nonsense_Mutation_p.R371* NM_006922 NP_008853 Q9NY46 SCN3A_HUMAN sodium channel, voltage-gated, type III, alpha 502 voltage-gated sodium channel complex voltage-gated sodium channel activity ovary(4)|breast(3)|skin(2)|central_nervous_system(1) 10 Lamotrigine(DB00555) TTCTTCCTTCGGTTCCTCCAT 0.428 NA 51 96 0 0 0 0 TTN 7273 broad.mit.edu 37 2 179457367 179457367 + Missense_Mutation SNP C C A TCGA-CV-6956-01A-21D-2012-08 TCGA-CV-6956-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 9ccee056-124e-40d5-a07d-c208765d8640 d28213c6-eb6f-4348-aca4-6f384a3b6d71 g.chr2:179457367C>A uc010zfg.1 - 250 51885 c.51661G>T c.(51661-51663)GAT>TAT p.D17221Y uc002umo.2_Intron|uc002ump.1_Intron|TTN_uc010zfh.1_Missense_Mutation_p.D10916Y|TTN_uc010zfi.1_Missense_Mutation_p.D10849Y|TTN_uc010zfj.1_Missense_Mutation_p.D10724Y NM_133378 NP_596869 Q8WZ42 TITIN_HUMAN titin isoform N2-A 18148 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) ATGTTGGCATCAAGAATCAAC 0.363 NA 35 51 7.65e-07 8.31e-07 1 0 GULP1 51454 broad.mit.edu 37 2 189458684 189458684 + Silent SNP A A T TCGA-CV-6956-01A-21D-2012-08 TCGA-CV-6956-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 9ccee056-124e-40d5-a07d-c208765d8640 d28213c6-eb6f-4348-aca4-6f384a3b6d71 g.chr2:189458684A>T uc010fru.2 + 12 1322 c.861A>T c.(859-861)GGA>GGT p.G287G GULP1_uc002uqd.2_Missense_Mutation_p.D291V|GULP1_uc010zfw.1_Silent_p.G184G|GULP1_uc002uqf.2_Silent_p.G287G|GULP1_uc002uqg.2_Silent_p.G287G|GULP1_uc002uqh.1_3'UTR NM_016315 NP_057399 Q9UBP9 GULP1_HUMAN GULP, engulfment adaptor PTB domain containing 287 apoptosis|lipid transport|phagocytosis, engulfment cytoplasm|intracellular membrane-bounded organelle signal transducer activity ovary(1) 1 OV - Ovarian serous cystadenocarcinoma(117;0.0423)|Epithelial(96;0.158) TCAAAATGGGACTAACTCTTG 0.338 NA 9 26 0 0 0 0 CPS1 1373 broad.mit.edu 37 2 211473156 211473156 + Missense_Mutation SNP C C T TCGA-CV-6956-01A-21D-2012-08 TCGA-CV-6956-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 9ccee056-124e-40d5-a07d-c208765d8640 d28213c6-eb6f-4348-aca4-6f384a3b6d71 g.chr2:211473156C>T uc002vee.3 + 19 2396 c.2264C>T c.(2263-2265)TCC>TTC p.S755F CPS1_uc010fur.2_Missense_Mutation_p.S761F|CPS1_uc010fus.2_Missense_Mutation_p.S304F NM_001875 NP_001866 P31327 CPSM_HUMAN carbamoyl-phosphate synthetase 1 isoform b 755 carbamoyl phosphate biosynthetic process|citrulline biosynthetic process|glutamine metabolic process|glycogen catabolic process|nitric oxide metabolic process|positive regulation of vasodilation|response to lipopolysaccharide|triglyceride catabolic process|urea cycle mitochondrial nucleoid ATP binding|carbamoyl-phosphate synthase (ammonia) activity ovary(8)|central_nervous_system(3)|breast(1)|skin(1) 13 Epithelial(149;0.00697)|Lung(261;0.0521)|LUSC - Lung squamous cell carcinoma(261;0.0544)|all cancers(144;0.0843) AACGTCGTATCCGGGAAGACA 0.423 NA 27 47 0 0 0 0 MARCH4 57574 broad.mit.edu 37 2 217124378 217124378 + Missense_Mutation SNP G G A TCGA-CV-6956-01A-21D-2012-08 TCGA-CV-6956-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 9ccee056-124e-40d5-a07d-c208765d8640 d28213c6-eb6f-4348-aca4-6f384a3b6d71 g.chr2:217124378G>A uc002vgb.2 - 4 2657 c.890C>T c.(889-891)TCG>TTG p.S297L NM_020814 NP_065865 Q9P2E8 MARH4_HUMAN membrane-associated ring finger (C3HC4) 4 297 Golgi membrane|Golgi stack|integral to membrane|trans-Golgi network ubiquitin-protein ligase activity|zinc ion binding ovary(1) 1 Renal(323;0.0854) Epithelial(149;2.19e-05)|all cancers(144;0.00121)|LUSC - Lung squamous cell carcinoma(224;0.00902)|Lung(261;0.0125) GCGGTACACCGAGGGTCCTTC 0.537 NA 23 25 0 0 0 0 COL6A3 1293 broad.mit.edu 37 2 238287849 238287849 + Missense_Mutation SNP G G C TCGA-CV-6956-01A-21D-2012-08 TCGA-CV-6956-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 9ccee056-124e-40d5-a07d-c208765d8640 d28213c6-eb6f-4348-aca4-6f384a3b6d71 g.chr2:238287849G>C uc002vwl.2 - 6 2212 c.1927C>G c.(1927-1929)CTT>GTT p.L643V COL6A3_uc002vwo.2_Missense_Mutation_p.L437V|COL6A3_uc010znj.1_Intron|COL6A3_uc002vwq.2_Missense_Mutation_p.L437V|COL6A3_uc002vwr.2_Missense_Mutation_p.L236V|COL6A3_uc010znk.1_Intron NM_004369 NP_004360 P12111 CO6A3_HUMAN alpha 3 type VI collagen isoform 1 precursor 643 VWFA 4.|Nonhelical region. axon guidance|cell adhesion|muscle organ development collagen type VI|extracellular space serine-type endopeptidase inhibitor activity ovary(8)|central_nervous_system(6)|skin(2)|upper_aerodigestive_tract(1)|pancreas(1) 18 Breast(86;0.000301)|Renal(207;0.000966)|all_hematologic(139;0.067)|Ovarian(221;0.0694)|all_lung(227;0.0943)|Melanoma(123;0.203) Epithelial(121;1.23e-21)|OV - Ovarian serous cystadenocarcinoma(60;1.34e-10)|Kidney(56;5.71e-09)|KIRC - Kidney renal clear cell carcinoma(57;1.51e-07)|BRCA - Breast invasive adenocarcinoma(100;0.00025)|Lung(119;0.0142)|LUSC - Lung squamous cell carcinoma(224;0.034) CCATCCAAAAGAAAGATGATA 0.388 NA 11 24 0 0 0 0 MYEOV2 150678 broad.mit.edu 37 2 241069334 241069334 + Silent SNP C C T TCGA-CV-6956-01A-21D-2012-08 TCGA-CV-6956-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 9ccee056-124e-40d5-a07d-c208765d8640 d28213c6-eb6f-4348-aca4-6f384a3b6d71 g.chr2:241069334C>T uc002vyu.1 - 4 375 c.375G>A c.(373-375)TCG>TCA p.S125S NM_138336 NP_612209 Q8WXC6 MYOV2_HUMAN hypothetical protein LOC150678 isoform 1 Error:Variant_position_missing_in_Q8WXC6_after_alignment 0 all_epithelial(40;1.56e-11)|Breast(86;0.0002)|Renal(207;0.00571)|Ovarian(221;0.104)|all_hematologic(139;0.182)|all_lung(227;0.229)|Melanoma(123;0.238) Epithelial(121;3.81e-30)|all cancers(36;1.1e-27)|OV - Ovarian serous cystadenocarcinoma(60;2.74e-14)|Kidney(56;2.99e-09)|KIRC - Kidney renal clear cell carcinoma(57;3.23e-08)|BRCA - Breast invasive adenocarcinoma(100;8.54e-06)|Lung(119;0.00361)|LUSC - Lung squamous cell carcinoma(224;0.0153)|Colorectal(34;0.0202)|COAD - Colon adenocarcinoma(134;0.143) TTACCTCTTCCGACACCACAG 0.617 NA 34 65 0 0 0 0 ING5 84289 broad.mit.edu 37 2 242650884 242650884 + Silent SNP C C T rs142180451 byFrequency TCGA-CV-6956-01A-21D-2012-08 TCGA-CV-6956-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 9ccee056-124e-40d5-a07d-c208765d8640 d28213c6-eb6f-4348-aca4-6f384a3b6d71 g.chr2:242650884C>T uc002wcd.2 + 4 394 c.369C>T c.(367-369)TCC>TCT p.S123S ING5_uc002wcc.1_Silent_p.S123S NM_032329 NP_115705 Q8WYH8 ING5_HUMAN inhibitor of growth family, member 5 123 DNA replication|histone H3 acetylation|negative regulation of cell proliferation|negative regulation of growth|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent MOZ/MORF histone acetyltransferase complex protein binding|zinc ion binding 0 all_cancers(19;1.09e-40)|all_epithelial(40;2.03e-18)|Breast(86;1.53e-05)|all_lung(227;0.00338)|Renal(207;0.00502)|Ovarian(221;0.00716)|Lung NSC(271;0.012)|Esophageal squamous(248;0.129)|Melanoma(123;0.144)|all_hematologic(139;0.158)|all_neural(83;0.243)|Hepatocellular(293;0.244) Epithelial(32;2.16e-33)|all cancers(36;4.99e-31)|OV - Ovarian serous cystadenocarcinoma(60;3.6e-15)|Kidney(56;3.04e-09)|KIRC - Kidney renal clear cell carcinoma(57;3.23e-08)|BRCA - Breast invasive adenocarcinoma(100;1.65e-06)|Lung(119;0.000152)|LUSC - Lung squamous cell carcinoma(224;0.00154)|Colorectal(34;0.0129)|COAD - Colon adenocarcinoma(134;0.0839) TTGAAAGCTCCGGAGGGCGAG 0.393 NA 44 94 0 0 0 0 ProSAPiP1 9762 broad.mit.edu 37 20 3147717 3147717 + Silent SNP C C T TCGA-CV-6956-01A-21D-2012-08 TCGA-CV-6956-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 9ccee056-124e-40d5-a07d-c208765d8640 d28213c6-eb6f-4348-aca4-6f384a3b6d71 g.chr20:3147717C>T uc002wia.1 - 1 1491 c.93G>A c.(91-93)CCG>CCA p.P31P ProSAPiP1_uc002wib.1_Silent_p.P31P NM_014731 NP_055546 O60299 PRIP1_HUMAN ProSAPiP1 protein 31 cell junction|cytoplasm|postsynaptic density|postsynaptic membrane pancreas(1) 1 GGCGGGGGTCCGGGGGTCCAA 0.706 NA 9 10 0 0 0 0 RIN2 54453 broad.mit.edu 37 20 19981537 19981537 + Missense_Mutation SNP G G T TCGA-CV-6956-01A-21D-2012-08 TCGA-CV-6956-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 9ccee056-124e-40d5-a07d-c208765d8640 d28213c6-eb6f-4348-aca4-6f384a3b6d71 g.chr20:19981537G>T uc002wro.1 + 11 2681 c.2645G>T c.(2644-2646)GGC>GTC p.G882V RIN2_uc010gcu.1_Missense_Mutation_p.G449V|RIN2_uc010gcv.1_Missense_Mutation_p.G676V NM_018993 NP_061866 Q8WYP3 RIN2_HUMAN Ras and Rab interactor 2 882 endocytosis|small GTPase mediated signal transduction cytoplasm GTPase activator activity|Rab guanyl-nucleotide exchange factor activity lung(4)|ovary(1) 5 GATCCTTATGGCATCATTTTC 0.532 NA 22 63 5.45e-15 6.27e-15 1 0 CST3 1471 broad.mit.edu 37 20 23614554 23614554 + Nonstop_Mutation SNP T T A TCGA-CV-6956-01A-21D-2012-08 TCGA-CV-6956-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 9ccee056-124e-40d5-a07d-c208765d8640 d28213c6-eb6f-4348-aca4-6f384a3b6d71 g.chr20:23614554T>A uc002wtm.2 - 3 515 c.440A>T c.(439-441)TAG>TTG p.*147L CST3_uc002wtn.1_Nonstop_Mutation_p.*147L NM_000099 NP_000090 P01034 CYTC_HUMAN cystatin C precursor 147 defense response|fibril organization|negative regulation of blood vessel remodeling|negative regulation of collagen catabolic process|negative regulation of elastin catabolic process|negative regulation of extracellular matrix disassembly extracellular space beta-amyloid binding|cysteine-type endopeptidase inhibitor activity|protease binding ovary(1) 1 Lung NSC(19;0.0789)|Colorectal(13;0.0993)|all_lung(19;0.169) TACAGACCCCTAGGCGTCCTG 0.577 NA 31 97 0 0 0 0 BAGE2 85319 broad.mit.edu 37 21 11058238 11058238 + Nonsense_Mutation SNP G G A TCGA-CV-6956-01A-21D-2012-08 TCGA-CV-6956-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 9ccee056-124e-40d5-a07d-c208765d8640 d28213c6-eb6f-4348-aca4-6f384a3b6d71 g.chr21:11058238G>A uc002yit.1 - 3 410 c.202C>T c.(202-204)CAG>TAG p.Q68* BAGE_uc002yiw.1_RNA NM_182482 NP_872288 B melanoma antigen family, member 2 precursor 0 Colorectal(6;3.44e-05)|COAD - Colon adenocarcinoma(6;0.00727)|READ - Rectum adenocarcinoma(6;0.0723) UCEC - Uterine corpus endometrioid carcinoma (6;0.0974)|all cancers(6;2.54e-22)|Epithelial(6;4.21e-19)|OV - Ovarian serous cystadenocarcinoma(6;1.16e-09)|BRCA - Breast invasive adenocarcinoma(6;7.72e-05)|Lung(8;0.000189)|LUSC - Lung squamous cell carcinoma(6;0.00379)|GBM - Glioblastoma multiforme(6;0.00391)|Kidney(17;0.0773)|LUAD - Lung adenocarcinoma(8;0.247) GTCGGCTCCTGCAGCACAAGG 0.433 NA 14 83 0 0 0 0 NRIP1 8204 broad.mit.edu 37 21 16339770 16339770 + Missense_Mutation SNP T T A TCGA-CV-6956-01A-21D-2012-08 TCGA-CV-6956-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 9ccee056-124e-40d5-a07d-c208765d8640 d28213c6-eb6f-4348-aca4-6f384a3b6d71 g.chr21:16339770T>A uc002yjx.2 - 4 1342 c.744A>T c.(742-744)GAA>GAT p.E248D NM_003489 NP_003480 P48552 NRIP1_HUMAN nuclear receptor interacting protein 1 248 Repression domain 1. androgen receptor signaling pathway|negative regulation of transcription from RNA polymerase II promoter|positive regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent androgen receptor binding|estrogen receptor binding|glucocorticoid receptor binding|transcription coactivator activity|transcription corepressor activity 0 Epithelial(23;1.19e-05)|all cancers(11;4.64e-05)|COAD - Colon adenocarcinoma(22;0.000232)|Colorectal(24;0.0006)|OV - Ovarian serous cystadenocarcinoma(11;0.00418)|Lung(58;0.199)|LUSC - Lung squamous cell carcinoma(23;0.24) TAGCCCTTTTTTCCACCATGC 0.473 NA 19 47 0 0 0 0 TRAPPC10 7109 broad.mit.edu 37 21 45479008 45479008 + Missense_Mutation SNP A A T TCGA-CV-6956-01A-21D-2012-08 TCGA-CV-6956-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 9ccee056-124e-40d5-a07d-c208765d8640 d28213c6-eb6f-4348-aca4-6f384a3b6d71 g.chr21:45479008A>T uc002zea.2 + 6 872 c.703A>T c.(703-705)ATG>TTG p.M235L TRAPPC10_uc010gpo.2_5'UTR|TRAPPC10_uc002zdz.2_Missense_Mutation_p.M235L NM_003274 NP_003265 P48553 TPC10_HUMAN trafficking protein particle complex 10 235 vesicle-mediated transport Golgi apparatus|integral to membrane binding|sodium ion transmembrane transporter activity ovary(1)|skin(1) 2 TGTTTTCGAGATGCTGCAGCA 0.468 NA 9 28 0 0 0 0 SYN3 8224 broad.mit.edu 37 22 32909744 32909744 + Missense_Mutation SNP C C G TCGA-CV-6956-01A-21D-2012-08 TCGA-CV-6956-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 9ccee056-124e-40d5-a07d-c208765d8640 d28213c6-eb6f-4348-aca4-6f384a3b6d71 g.chr22:32909744C>G uc003amx.2 - 13 1837 c.1678G>C c.(1678-1680)GAC>CAC p.D560H SYN3_uc003amy.2_3'UTR|SYN3_uc003amz.2_Missense_Mutation_p.D559H NM_003490 NP_003481 O14994 SYN3_HUMAN synapsin III isoform IIIa 560 E. neurotransmitter secretion cell junction|synaptic vesicle membrane ATP binding|ligase activity skin(1) 1 TTGGCCTCGTCTTCACTTGGG 0.562 NA 28 55 0 0 0 0 GRAP2 9402 broad.mit.edu 37 22 40364132 40364132 + Missense_Mutation SNP G G T TCGA-CV-6956-01A-21D-2012-08 TCGA-CV-6956-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 9ccee056-124e-40d5-a07d-c208765d8640 d28213c6-eb6f-4348-aca4-6f384a3b6d71 g.chr22:40364132G>T uc003ayh.1 + 6 809 c.546G>T c.(544-546)ATG>ATT p.M182I GRAP2_uc003ayi.2_RNA|GRAP2_uc011aom.1_Missense_Mutation_p.M156I|GRAP2_uc011aon.1_Missense_Mutation_p.M116I|GRAP2_uc010gya.1_Missense_Mutation_p.M182I|GRAP2_uc011aoo.1_Missense_Mutation_p.M110I|GRAP2_uc011aop.1_Missense_Mutation_p.M142I|GRAP2_uc011aoq.1_Missense_Mutation_p.M69I|GRAP2_uc003ayj.1_Missense_Mutation_p.M182I NM_004810 NP_004801 O75791 GRAP2_HUMAN GRB2-related adaptor protein 2 182 cell-cell signaling|Ras protein signal transduction|T cell costimulation|T cell receptor signaling pathway cytosol SH3/SH2 adaptor activity upper_aerodigestive_tract(1)|central_nervous_system(1) 2 GACCTTCGATGAACCGGAAGC 0.443 NA 8 10 0.00448238 0.00464372 1 0 PHF21B 112885 broad.mit.edu 37 22 45281799 45281799 + Missense_Mutation SNP C C T TCGA-CV-6956-01A-21D-2012-08 TCGA-CV-6956-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 9ccee056-124e-40d5-a07d-c208765d8640 d28213c6-eb6f-4348-aca4-6f384a3b6d71 g.chr22:45281799C>T uc003bfn.2 - 11 1368 c.1217G>A c.(1216-1218)GGT>GAT p.G406D PHF21B_uc003bfm.2_Missense_Mutation_p.G202D|PHF21B_uc011aqk.1_Missense_Mutation_p.G352D|PHF21B_uc011aql.1_Missense_Mutation_p.G364D NM_138415 NP_612424 Q96EK2 PF21B_HUMAN PHD finger protein 21B isoform 1 406 zinc ion binding ovary(2)|skin(1) 3 all_neural(38;0.00802)|Glioma(61;0.0353)|Ovarian(80;0.0731) UCEC - Uterine corpus endometrioid carcinoma (28;0.0203) CCAGGGCACACCCTCGTCTTT 0.597 NA 57 84 0 0 0 0 CELSR1 9620 broad.mit.edu 37 22 46931727 46931727 + Silent SNP G G T TCGA-CV-6956-01A-21D-2012-08 TCGA-CV-6956-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 9ccee056-124e-40d5-a07d-c208765d8640 d28213c6-eb6f-4348-aca4-6f384a3b6d71 g.chr22:46931727G>T uc003bhw.1 - 1 1341 c.1341C>A c.(1339-1341)ATC>ATA p.I447I NM_014246 NP_055061 Q9NYQ6 CELR1_HUMAN cadherin EGF LAG seven-pass G-type receptor 1 447 Extracellular (Potential).|Cadherin 2. central nervous system development|homophilic cell adhesion|neural tube closure|neuropeptide signaling pathway integral to plasma membrane calcium ion binding|G-protein coupled receptor activity|protein dimerization activity lung(4)|breast(4)|pancreas(2)|skin(1) 11 Ovarian(80;0.00142)|Breast(42;0.00296)|all_neural(38;0.0416)|Colorectal(5;0.0766) UCEC - Uterine corpus endometrioid carcinoma (28;0.00643)|BRCA - Breast invasive adenocarcinoma(115;0.171) CCTCCACCTCGATGTACACGG 0.667 NA 16 35 1.52e-12 1.72e-12 1 0 PLCL2 23228 broad.mit.edu 37 3 17052859 17052859 + Missense_Mutation SNP G G A TCGA-CV-6956-01A-21D-2012-08 TCGA-CV-6956-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 9ccee056-124e-40d5-a07d-c208765d8640 d28213c6-eb6f-4348-aca4-6f384a3b6d71 g.chr3:17052859G>A uc011awc.1 + 5 2102 c.1997G>A c.(1996-1998)AGG>AAG p.R666K PLCL2_uc011awd.1_Missense_Mutation_p.R548K NM_001144382 NP_001137854 Q9UPR0 PLCL2_HUMAN phospholipase C-like 2 isoform 1 674 PI-PLC Y-box. intracellular signal transduction|lipid metabolic process cytoplasm calcium ion binding|phosphatidylinositol phospholipase C activity|signal transducer activity skin(2)|ovary(1)|lung(1) 4 TTTCTTGCTAGGGTTTTTCCC 0.398 NA 16 23 0 0 0 0 EPHA3 2042 broad.mit.edu 37 3 89456492 89456492 + Silent SNP C C G TCGA-CV-6956-01A-21D-2012-08 TCGA-CV-6956-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 9ccee056-124e-40d5-a07d-c208765d8640 d28213c6-eb6f-4348-aca4-6f384a3b6d71 g.chr3:89456492C>G uc003dqy.2 + 8 1893 c.1668C>G c.(1666-1668)CTC>CTG p.L556L EPHA3_uc010hon.1_RNA NM_005233 NP_005224 P29320 EPHA3_HUMAN ephrin receptor EphA3 isoform a precursor 556 Helical; (Potential). extracellular region|integral to plasma membrane ATP binding lung(17)|ovary(7)|large_intestine(4)|central_nervous_system(2)|stomach(1)|skin(1)|pancreas(1) 33 all_cancers(8;0.0406)|Melanoma(1;0.00142)|all_epithelial(1;0.0612) Lung NSC(201;0.0782) LUSC - Lung squamous cell carcinoma(29;0.00344)|Lung(72;0.00942) TTATTCTCCTCACTGTTGTCA 0.408 NA TSP Lung(6;0.00050) 10 13 0 0 0 0 EPHA6 285220 broad.mit.edu 37 3 97439174 97439174 + Missense_Mutation SNP G G C TCGA-CV-6956-01A-21D-2012-08 TCGA-CV-6956-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 9ccee056-124e-40d5-a07d-c208765d8640 d28213c6-eb6f-4348-aca4-6f384a3b6d71 g.chr3:97439174G>C uc010how.1 + 15 2897 c.2854G>C c.(2854-2856)GAT>CAT p.D952H EPHA6_uc003drt.2_Missense_Mutation_p.D344H|EPHA6_uc010hox.1_RNA NM_001080448 NP_001073917 Q9UF33 EPHA6_HUMAN EPH receptor A6 isoform a 857 Protein kinase.|Cytoplasmic (Potential). integral to plasma membrane ATP binding|ephrin receptor activity stomach(5)|lung(4)|central_nervous_system(3)|breast(1)|skin(1)|ovary(1)|kidney(1) 16 CTCAGCAAGCGATGCATGGAG 0.463 NA 45 60 0 0 0 0 KALRN 8997 broad.mit.edu 37 3 124369736 124369736 + Missense_Mutation SNP C C T TCGA-CV-6956-01A-21D-2012-08 TCGA-CV-6956-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 9ccee056-124e-40d5-a07d-c208765d8640 d28213c6-eb6f-4348-aca4-6f384a3b6d71 g.chr3:124369736C>T uc003ehg.2 + 38 5870 c.5743C>T c.(5743-5745)CCT>TCT p.P1915S KALRN_uc003ehi.2_Missense_Mutation_p.P256S|KALRN_uc003ehk.2_Missense_Mutation_p.P218S|KALRN_uc011bjz.1_Missense_Mutation_p.P7S|KALRN_uc003ehj.2_Missense_Mutation_p.P186S NM_001024660 NP_001019831 O60229 KALRN_HUMAN kalirin, RhoGEF kinase isoform 1 1914 apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|nervous system development|regulation of Rho protein signal transduction|small GTPase mediated signal transduction|vesicle-mediated transport actin cytoskeleton|cytosol ATP binding|GTPase activator activity|metal ion binding|protein binding|protein serine/threonine kinase activity|Rho guanyl-nucleotide exchange factor activity large_intestine(2)|ovary(2)|central_nervous_system(1)|skin(1) 6 ACCCACACCTCCTAAAAACCC 0.542 NA 23 55 0 0 0 0 STAG1 10274 broad.mit.edu 37 3 136141433 136141433 + Missense_Mutation SNP T T C TCGA-CV-6956-01A-21D-2012-08 TCGA-CV-6956-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 9ccee056-124e-40d5-a07d-c208765d8640 d28213c6-eb6f-4348-aca4-6f384a3b6d71 g.chr3:136141433T>C uc003era.1 - 19 2148 c.1856A>G c.(1855-1857)CAG>CGG p.Q619R STAG1_uc003erb.1_Missense_Mutation_p.Q619R|STAG1_uc003erc.1_Missense_Mutation_p.Q393R|STAG1_uc010hua.1_Missense_Mutation_p.Q482R NM_005862 NP_005853 Q8WVM7 STAG1_HUMAN stromal antigen 1 619 cell division|chromosome segregation|mitotic metaphase/anaphase transition|mitotic prometaphase cell junction|chromatin|chromosome, centromeric region|nucleoplasm protein binding ovary(2) 2 AAACTTAATCTGTTTTAATAA 0.308 NA 21 52 0 0 0 0 CLSTN2 64084 broad.mit.edu 37 3 140281753 140281753 + Nonsense_Mutation SNP C C A TCGA-CV-6956-01A-21D-2012-08 TCGA-CV-6956-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 9ccee056-124e-40d5-a07d-c208765d8640 d28213c6-eb6f-4348-aca4-6f384a3b6d71 g.chr3:140281753C>A uc003etn.2 + 14 2503 c.2313C>A c.(2311-2313)TGC>TGA p.C771* NM_022131 NP_071414 Q9H4D0 CSTN2_HUMAN calsyntenin 2 precursor 771 Extracellular (Potential). homophilic cell adhesion endoplasmic reticulum membrane|Golgi membrane|integral to membrane|plasma membrane calcium ion binding skin(3)|large_intestine(2)|pancreas(1)|central_nervous_system(1) 7 GGATTAAGTGCTCAGAACTCA 0.562 NA HNSCC(16;0.037) 10 38 0.000673444 0.000703186 1 0 PIK3CA 5290 broad.mit.edu 37 3 178916946 178916946 + Missense_Mutation SNP G G C TCGA-CV-6956-01A-21D-2012-08 TCGA-CV-6956-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 9ccee056-124e-40d5-a07d-c208765d8640 d28213c6-eb6f-4348-aca4-6f384a3b6d71 g.chr3:178916946G>C uc003fjk.2 + 2 490 c.333G>C c.(331-333)AAG>AAC p.K111N NM_006218 NP_006209 P42336 PK3CA_HUMAN phosphoinositide-3-kinase, catalytic, alpha 111 epidermal growth factor receptor signaling pathway|fibroblast growth factor receptor signaling pathway|insulin receptor signaling pathway|leukocyte migration|nerve growth factor receptor signaling pathway|phosphatidylinositol-mediated signaling|platelet activation|T cell costimulation|T cell receptor signaling pathway 1-phosphatidylinositol-3-kinase activity|ATP binding|phosphatidylinositol-4,5-bisphosphate 3-kinase activity p.K111N(10)|p.K111E(7)|p.K111R(1)|p.K111del(1)|p.K111_I112>N(1) breast(1564)|large_intestine(776)|endometrium(246)|urinary_tract(195)|ovary(141)|skin(112)|stomach(98)|thyroid(77)|central_nervous_system(69)|lung(65)|upper_aerodigestive_tract(58)|haematopoietic_and_lymphoid_tissue(27)|cervix(25)|biliary_tract(22)|liver(20)|oesophagus(17)|pancreas(11)|penis(8)|pituitary(8)|autonomic_ganglia(4)|prostate(3)|kidney(2)|meninges(1)|eye(1)|NS(1)|soft_tissue(1)|bone(1) 3553 all_cancers(143;1.19e-17)|Ovarian(172;0.00769)|Breast(254;0.155) OV - Ovarian serous cystadenocarcinoma(80;9.59e-28)|GBM - Glioblastoma multiforme(14;0.003)|BRCA - Breast invasive adenocarcinoma(182;0.0282) GTGAAGAAAAGATCCTCAATC 0.328 57 Mis colorectal|gastric|gliobastoma|breast HNSCC(19;0.045)|TSP Lung(28;0.18) 6 42 0 0 0 0 MCF2L2 23101 broad.mit.edu 37 3 182897459 182897459 + Missense_Mutation SNP C C T TCGA-CV-6956-01A-21D-2012-08 TCGA-CV-6956-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 9ccee056-124e-40d5-a07d-c208765d8640 d28213c6-eb6f-4348-aca4-6f384a3b6d71 g.chr3:182897459C>T uc003fli.1 - 29 3217 c.3127G>A c.(3127-3129)GAC>AAC p.D1043N NM_015078 NP_055893 Q86YR7 MF2L2_HUMAN Rho family guanine-nucleotide exchange factor 1043 regulation of Rho protein signal transduction intracellular Rho guanyl-nucleotide exchange factor activity ovary(2)|large_intestine(2)|breast(1) 5 all_cancers(143;1.26e-12)|Ovarian(172;0.0355) all cancers(12;3.35e-44)|Epithelial(37;6.48e-38)|LUSC - Lung squamous cell carcinoma(7;7.12e-25)|Lung(8;6.39e-23)|OV - Ovarian serous cystadenocarcinoma(80;6.75e-21) TGACTGTCGTCCGACTGGAAA 0.587 NA 85 82 0 0 0 0 RFC4 5984 broad.mit.edu 37 3 186518927 186518927 + Missense_Mutation SNP T T G TCGA-CV-6956-01A-21D-2012-08 TCGA-CV-6956-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 9ccee056-124e-40d5-a07d-c208765d8640 d28213c6-eb6f-4348-aca4-6f384a3b6d71 g.chr3:186518927T>G uc003fqz.2 - 3 412 c.189A>C c.(187-189)AAA>AAC p.K63N RFC4_uc011bsc.1_Missense_Mutation_p.K63N|RFC4_uc011bsd.1_Missense_Mutation_p.K63N NM_002916 NP_002907 P35249 RFC4_HUMAN replication factor C 4 63 cell cycle checkpoint|DNA strand elongation involved in DNA replication|nucleotide-excision repair, DNA gap filling|phosphatidylinositol-mediated signaling|S phase of mitotic cell cycle|telomere maintenance via recombination|telomere maintenance via semi-conservative replication|transcription-coupled nucleotide-excision repair DNA replication factor C complex|nucleoplasm ATP binding|DNA clamp loader activity|protein binding breast(2)|upper_aerodigestive_tract(1)|ovary(1)|large_intestine(1) 5 all_cancers(143;2.92e-12)|Ovarian(172;0.0339) OV - Ovarian serous cystadenocarcinoma(80;7.41e-21) GBM - Glioblastoma multiforme(93;0.0739) CTAAAGATTTTTTCAGCACTG 0.378 NA 24 106 0 0 0 0 MFI2 4241 broad.mit.edu 37 3 196735690 196735690 + Missense_Mutation SNP C C T TCGA-CV-6956-01A-21D-2012-08 TCGA-CV-6956-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 9ccee056-124e-40d5-a07d-c208765d8640 d28213c6-eb6f-4348-aca4-6f384a3b6d71 g.chr3:196735690C>T uc003fxk.3 - 12 1785 c.1672G>A c.(1672-1674)GGC>AGC p.G558S NM_005929 NP_005920 P08582 TRFM_HUMAN melanoma-associated antigen p97 isoform 1 558 Transferrin-like 2. cellular iron ion homeostasis|iron ion transport anchored to membrane|extracellular region|integral to plasma membrane ferric iron binding|protein binding 0 all_cancers(143;3.95e-09)|Ovarian(172;0.0634)|Breast(254;0.0838) Epithelial(36;4.55e-24)|all cancers(36;2.87e-22)|OV - Ovarian serous cystadenocarcinoma(49;1.76e-18)|LUSC - Lung squamous cell carcinoma(58;1.51e-06)|Lung(62;1.95e-06) GBM - Glioblastoma multiforme(46;0.00536) CTGAAGGCGCCGCGGTAGCCG 0.672 NA 26 60 0 0 0 0 DRD5 1816 broad.mit.edu 37 4 9784899 9784899 + Missense_Mutation SNP A A C TCGA-CV-6956-01A-21D-2012-08 TCGA-CV-6956-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 9ccee056-124e-40d5-a07d-c208765d8640 d28213c6-eb6f-4348-aca4-6f384a3b6d71 g.chr4:9784899A>C uc003gmb.3 + 1 1642 c.1246A>C c.(1246-1248)AAC>CAC p.N416H NM_000798 NP_000789 P21918 DRD5_HUMAN dopamine receptor D5 416 Cytoplasmic (Potential). activation of adenylate cyclase activity by dopamine receptor signaling pathway|activation of phospholipase C activity by dopamine receptor signaling pathway|cellular calcium ion homeostasis|negative regulation of NAD(P)H oxidase activity|reactive oxygen species metabolic process|synaptic transmission, dopaminergic integral to plasma membrane skin(1) 1 Apomorphine(DB00714)|Carphenazine(DB01038)|Fenoldopam(DB00800)|Zuclopenthixol(DB01624) CATGATGCCCAACGCCGTTAC 0.567 NA 19 48 0 0 0 0 LCORL 254251 broad.mit.edu 37 4 17910776 17910776 + Missense_Mutation SNP T T A TCGA-CV-6956-01A-21D-2012-08 TCGA-CV-6956-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 9ccee056-124e-40d5-a07d-c208765d8640 d28213c6-eb6f-4348-aca4-6f384a3b6d71 g.chr4:17910776T>A uc003gpq.2 - 5 634 c.623A>T c.(622-624)GAG>GTG p.E208V LCORL_uc011bxk.1_Missense_Mutation_p.E121V NM_153686 NP_710153 Q8N3X6 LCORL_HUMAN ligand dependent nuclear receptor 208 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding 0 GCCTTCCTGCTCTTCCTGAAG 0.348 NA 28 42 0 0 0 0 SLIT2 9353 broad.mit.edu 37 4 20619185 20619185 + Missense_Mutation SNP G G T rs111791287 TCGA-CV-6956-01A-21D-2012-08 TCGA-CV-6956-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 9ccee056-124e-40d5-a07d-c208765d8640 d28213c6-eb6f-4348-aca4-6f384a3b6d71 g.chr4:20619185G>T uc003gpr.1 + 36 4464 c.4260G>T c.(4258-4260)AAG>AAT p.K1420N SLIT2_uc003gps.1_Missense_Mutation_p.K1412N NM_004787 NP_004778 O94813 SLIT2_HUMAN slit homolog 2 precursor 1420 apoptosis involved in luteolysis|axon extension involved in axon guidance|branching morphogenesis of a tube|cell migration involved in sprouting angiogenesis|cellular response to heparin|cellular response to hormone stimulus|chemorepulsion involved in postnatal olfactory bulb interneuron migration|corticospinal neuron axon guidance through spinal cord|induction of negative chemotaxis|motor axon guidance|negative regulation of actin filament polymerization|negative regulation of cell growth|negative regulation of cellular response to growth factor stimulus|negative regulation of chemokine-mediated signaling pathway|negative regulation of endothelial cell migration|negative regulation of lamellipodium assembly|negative regulation of mononuclear cell migration|negative regulation of neutrophil chemotaxis|negative regulation of protein phosphorylation|negative regulation of retinal ganglion cell axon guidance|negative regulation of small GTPase mediated signal transduction|negative regulation of smooth muscle cell chemotaxis|negative regulation of vascular permeability|positive regulation of apoptosis|positive regulation of axonogenesis|response to cortisol stimulus|retinal ganglion cell axon guidance|Roundabout signaling pathway|ureteric bud development cell surface|cytoplasm|extracellular space|plasma membrane calcium ion binding|GTPase inhibitor activity|heparin binding|laminin-1 binding|protein homodimerization activity|proteoglycan binding|Roundabout binding central_nervous_system(4)|skin(4)|ovary(3) 11 AGGCGATCAAGTGCAAGCATG 0.557 NA 13 15 5.51e-06 5.88e-06 1 0 RCHY1 25898 broad.mit.edu 37 4 76407873 76407873 + Missense_Mutation SNP G G C TCGA-CV-6956-01A-21D-2012-08 TCGA-CV-6956-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 9ccee056-124e-40d5-a07d-c208765d8640 d28213c6-eb6f-4348-aca4-6f384a3b6d71 g.chr4:76407873G>C uc003hik.2 - 9 793 c.661C>G c.(661-663)CTC>GTC p.L221V RCHY1_uc010iio.2_Missense_Mutation_p.L117V|RCHY1_uc003hij.2_3'UTR|RCHY1_uc003hil.2_Missense_Mutation_p.L212V|RCHY1_uc010iip.2_3'UTR|RCHY1_uc010iiq.2_RNA|RCHY1_uc010iir.2_Missense_Mutation_p.L181V NM_015436 NP_056251 Q96PM5 ZN363_HUMAN ring finger and CHY zinc finger domain 221 positive regulation of proteasomal ubiquitin-dependent protein catabolic process|positive regulation of protein ubiquitination|protein autoubiquitination|protein ubiquitination involved in ubiquitin-dependent protein catabolic process cytoplasm|nuclear speck|ubiquitin ligase complex electron carrier activity|p53 binding|protein homodimerization activity|ubiquitin-protein ligase activity|zinc ion binding pancreas(1) 1 Lung(101;0.0973)|LUSC - Lung squamous cell carcinoma(112;0.122) TCATTGCAGAGAATCTGAAAA 0.318 NA 7 17 0 0 0 0 ENPEP 2028 broad.mit.edu 37 4 111398004 111398004 + Missense_Mutation SNP C C A TCGA-CV-6956-01A-21D-2012-08 TCGA-CV-6956-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 9ccee056-124e-40d5-a07d-c208765d8640 d28213c6-eb6f-4348-aca4-6f384a3b6d71 g.chr4:111398004C>A uc003iab.3 + 1 776 c.434C>A c.(433-435)CCG>CAG p.P145Q NM_001977 NP_001968 Q07075 AMPE_HUMAN glutamyl aminopeptidase 145 Extracellular (Potential). cell migration|cell proliferation|cell-cell signaling|proteolysis integral to plasma membrane aminopeptidase activity|metalloexopeptidase activity|zinc ion binding skin(3)|ovary(1)|breast(1) 5 Hepatocellular(203;0.217) OV - Ovarian serous cystadenocarcinoma(123;0.0031) L-Glutamic Acid(DB00142) ACCCGGCTCCCGGAGCTGAAG 0.627 NA 51 108 2.53e-16 2.93e-16 1 0 SEC24D 9871 broad.mit.edu 37 4 119649746 119649746 + Silent SNP A A T TCGA-CV-6956-01A-21D-2012-08 TCGA-CV-6956-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 9ccee056-124e-40d5-a07d-c208765d8640 d28213c6-eb6f-4348-aca4-6f384a3b6d71 g.chr4:119649746A>T uc003ici.3 - 22 3200 c.2928T>A c.(2926-2928)ATT>ATA p.I976I SEC24D_uc003ich.3_RNA|SEC24D_uc003icj.3_Silent_p.I977I NM_014822 NP_055637 O94855 SC24D_HUMAN Sec24-related protein D 976 COPII vesicle coating|intracellular protein transport|post-translational protein modification|protein N-linked glycosylation via asparagine COPII vesicle coat|cytosol|endoplasmic reticulum membrane|Golgi membrane|perinuclear region of cytoplasm zinc ion binding 0 TTTGTTGGATAATACCCATTA 0.308 NA 7 25 0 0 0 0 DCLK2 166614 broad.mit.edu 37 4 151168815 151168815 + Silent SNP G G A TCGA-CV-6956-01A-21D-2012-08 TCGA-CV-6956-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 9ccee056-124e-40d5-a07d-c208765d8640 d28213c6-eb6f-4348-aca4-6f384a3b6d71 g.chr4:151168815G>A uc003ilm.3 + 13 1939 c.1839G>A c.(1837-1839)CCG>CCA p.P613P DCLK2_uc003iln.3_Silent_p.P612P|DCLK2_uc003ilo.3_Silent_p.P630P|DCLK2_uc003ilp.3_RNA NM_001040260 NP_001035350 Q8N568 DCLK2_HUMAN doublecortin-like kinase 2 isoform a 613 Protein kinase. intracellular signal transduction cytoplasm|cytoskeleton ATP binding|protein serine/threonine kinase activity ovary(3) 3 all_hematologic(180;0.151) TGGAGTTTCCGGCCCCCTACT 0.512 NA 12 25 0 0 0 0 WDR17 116966 broad.mit.edu 37 4 177077229 177077229 + Splice_Site SNP G G T TCGA-CV-6956-01A-21D-2012-08 TCGA-CV-6956-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 9ccee056-124e-40d5-a07d-c208765d8640 d28213c6-eb6f-4348-aca4-6f384a3b6d71 g.chr4:177077229G>T uc003iuj.2 + 19 2689 c.2533_splice c.e19-1 p.W845_splice WDR17_uc003iuk.2_Splice_Site_p.W821_splice|WDR17_uc003ium.3_Splice_Site_p.W821_splice|WDR17_uc003iul.1_Intron|WDR17_uc003iun.2_Splice_Site_p.W64_splice NM_170710 NP_733828 Q8IZU2 WDR17_HUMAN WD repeat domain 17 isoform 1 ovary(2)|skin(2)|pancreas(1)|central_nervous_system(1) 6 Breast(14;0.00015)|Melanoma(52;0.00886)|Prostate(90;0.00996)|Renal(120;0.0183)|all_hematologic(60;0.107)|all_neural(102;0.164) all cancers(43;2.21e-20)|Epithelial(43;9.71e-18)|OV - Ovarian serous cystadenocarcinoma(60;2.38e-09)|GBM - Glioblastoma multiforme(59;0.000295)|STAD - Stomach adenocarcinoma(60;0.000703)|LUSC - Lung squamous cell carcinoma(193;0.0232) TTCTATTGTAGTGGGACAAAG 0.368 NA 24 69 2.28e-19 2.67e-19 1 0 FAT1 2195 broad.mit.edu 37 4 187538253 187538253 + Missense_Mutation SNP A A C TCGA-CV-6956-01A-21D-2012-08 TCGA-CV-6956-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 9ccee056-124e-40d5-a07d-c208765d8640 d28213c6-eb6f-4348-aca4-6f384a3b6d71 g.chr4:187538253A>C uc003izf.2 - 11 9169 c.8981T>G c.(8980-8982)CTT>CGT p.L2994R NM_005245 NP_005236 Q14517 FAT1_HUMAN FAT tumor suppressor 1 precursor 2994 Extracellular (Potential).|Cadherin 27. actin filament organization|anatomical structure morphogenesis|cell migration|cell-cell signaling|establishment or maintenance of cell polarity|homophilic cell adhesion cell-cell junction|integral to plasma membrane|nucleus|perinuclear region of cytoplasm calcium ion binding|protein binding ovary(10)|central_nervous_system(1)|pancreas(1) 12 CGTGATAGTAAGAAGGTAATT 0.413 NA HNSCC(5;0.00058) 13 23 0 0 0 0 DNAH5 1767 broad.mit.edu 37 5 13928288 13928288 + Splice_Site SNP C C A TCGA-CV-6956-01A-21D-2012-08 TCGA-CV-6956-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 9ccee056-124e-40d5-a07d-c208765d8640 d28213c6-eb6f-4348-aca4-6f384a3b6d71 g.chr5:13928288C>A uc003jfd.2 - 3 235 c.193_splice c.e3-1 p.I65_splice DNAH5_uc003jfe.1_Splice_Site NM_001369 NP_001360 Q8TE73 DYH5_HUMAN dynein, axonemal, heavy chain 5 microtubule-based movement cilium axoneme|cytoplasm|microtubule ATP binding|ATPase activity|microtubule motor activity ovary(14)|skin(13)|upper_aerodigestive_tract(1)|central_nervous_system(1)|breast(1)|pancreas(1) 31 Lung NSC(4;0.00476) TTCTTTCAATCTGGGAAAAAG 0.318 NA Kartagener_syndrome 23 72 3.6e-14 4.12e-14 1 0 NIPBL 25836 broad.mit.edu 37 5 37048756 37048756 + Missense_Mutation SNP A A G TCGA-CV-6956-01A-21D-2012-08 TCGA-CV-6956-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 9ccee056-124e-40d5-a07d-c208765d8640 d28213c6-eb6f-4348-aca4-6f384a3b6d71 g.chr5:37048756A>G uc003jkl.3 + 39 7241 c.6742A>G c.(6742-6744)ATG>GTG p.M2248V NIPBL_uc003jkk.3_Missense_Mutation_p.M2248V|NIPBL_uc003jkn.2_5'Flank NM_133433 NP_597677 Q6KC79 NIPBL_HUMAN delangin isoform A 2248 HEAT 4. brain development|cellular protein localization|cellular response to X-ray|cognition|developmental growth|ear morphogenesis|embryonic arm morphogenesis|embryonic digestive tract morphogenesis|external genitalia morphogenesis|eye morphogenesis|face morphogenesis|gall bladder development|maintenance of mitotic sister chromatid cohesion|metanephros development|negative regulation of transcription from RNA polymerase II promoter|outflow tract morphogenesis|positive regulation of histone deacetylation|regulation of developmental growth|regulation of embryonic development|regulation of hair cycle|response to DNA damage stimulus|sensory perception of sound|uterus morphogenesis SMC loading complex chromo shadow domain binding|histone deacetylase binding|protein C-terminus binding|protein N-terminus binding ovary(4)|lung(2)|large_intestine(1)|breast(1)|kidney(1) 9 all_lung(31;0.000447)|Hepatocellular(1;0.108) Epithelial(62;0.072)|COAD - Colon adenocarcinoma(61;0.14)|all cancers(62;0.191)|Colorectal(62;0.202) AGATACACGTATGCAGCAGGC 0.269 NA 9 24 0 0 0 0 LIFR 3977 broad.mit.edu 37 5 38482196 38482196 + Missense_Mutation SNP C C T TCGA-CV-6956-01A-21D-2012-08 TCGA-CV-6956-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 9ccee056-124e-40d5-a07d-c208765d8640 d28213c6-eb6f-4348-aca4-6f384a3b6d71 g.chr5:38482196C>T uc010ive.1 - 20 3127 c.2795G>A c.(2794-2796)CGT>CAT p.R932H LIFR_uc003jli.2_Missense_Mutation_p.R932H NM_001127671 NP_001121143 P42702 LIFR_HUMAN leukemia inhibitory factor receptor precursor 932 Cytoplasmic (Potential). positive regulation of cell proliferation extracellular region|integral to plasma membrane ciliary neurotrophic factor receptor binding|growth factor binding|leukemia inhibitory factor receptor activity ovary(3)|large_intestine(1) 4 all_lung(31;0.00021) ATCTTCAGGACGCTCAGCTAC 0.433 NA T PLAG1 salivary adenoma 29 188 0 0 0 0 GPR98 84059 broad.mit.edu 37 5 90106737 90106737 + Silent SNP C C T TCGA-CV-6956-01A-21D-2012-08 TCGA-CV-6956-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 9ccee056-124e-40d5-a07d-c208765d8640 d28213c6-eb6f-4348-aca4-6f384a3b6d71 g.chr5:90106737C>T uc003kju.2 + 74 15756 c.15660C>T c.(15658-15660)TTC>TTT p.F5220F GPR98_uc003kjt.2_Silent_p.F2926F|GPR98_uc003kjw.2_Silent_p.F881F NM_032119 NP_115495 Q8WXG9 GPR98_HUMAN G protein-coupled receptor 98 precursor 5220 Extracellular (Potential). cell communication|cell-cell adhesion|maintenance of organ identity|neuropeptide signaling pathway|photoreceptor cell maintenance cell surface|cytoplasm|integral to membrane|plasma membrane calcium ion binding|G-protein coupled receptor activity ovary(11)|central_nervous_system(3)|pancreas(2) 16 all_cancers(142;1.05e-09)|all_epithelial(76;1.81e-12)|all_lung(232;5.41e-06)|Lung NSC(167;1.72e-05)|Ovarian(174;0.00948)|Colorectal(57;0.133)|Breast(839;0.192) OV - Ovarian serous cystadenocarcinoma(54;7.01e-30)|Epithelial(54;6.79e-25)|all cancers(79;1.88e-20) ATGGAACATTCAGCCTTGGGC 0.463 NA 28 32 0 0 0 0 NR2F1 7025 broad.mit.edu 37 5 92923999 92923999 + Silent SNP C C T TCGA-CV-6956-01A-21D-2012-08 TCGA-CV-6956-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 9ccee056-124e-40d5-a07d-c208765d8640 d28213c6-eb6f-4348-aca4-6f384a3b6d71 g.chr5:92923999C>T uc003kkj.2 + 2 2527 c.840C>T c.(838-840)GCC>GCT p.A280A NM_005654 NP_005645 P10589 COT1_HUMAN nuclear receptor subfamily 2, group F, member 1 280 negative regulation of transcription from RNA polymerase II promoter|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor nucleoplasm ligand-regulated transcription factor activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|steroid hormone receptor activity|transcription coactivator activity|zinc ion binding urinary_tract(1)|ovary(1)|lung(1) 3 all_cancers(142;1.62e-05)|all_epithelial(76;1.51e-07)|all_lung(232;0.0126)|Lung NSC(167;0.0155)|Ovarian(174;0.0218)|Prostate(281;0.173)|Colorectal(57;0.19) UCEC - Uterine corpus endometrioid carcinoma (5;0.0416)|all cancers(79;9.57e-18) TGGCCGCCGCCGGCCTGCATG 0.667 NA 25 23 0 0 0 0 SLC27A6 28965 broad.mit.edu 37 5 128302163 128302163 + Silent SNP G G A TCGA-CV-6956-01A-21D-2012-08 TCGA-CV-6956-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 9ccee056-124e-40d5-a07d-c208765d8640 d28213c6-eb6f-4348-aca4-6f384a3b6d71 g.chr5:128302163G>A uc003kuy.2 + 2 729 c.333G>A c.(331-333)CTG>CTA p.L111L SLC27A6_uc003kuz.2_Silent_p.L111L NM_014031 NP_054750 Q9Y2P4 S27A6_HUMAN solute carrier family 27 (fatty acid 111 long-chain fatty acid transport|transmembrane transport|very long-chain fatty acid metabolic process integral to membrane|sarcolemma fatty acid transporter activity|long-chain fatty acid-CoA ligase activity|nucleotide binding 0 all_cancers(142;0.0483)|Prostate(80;0.055) KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365) Epithelial(69;0.171)|OV - Ovarian serous cystadenocarcinoma(64;0.186) TGGCTCTGCTGATGAGCAATG 0.552 NA 13 10 0 0 0 0 PCDHGB4 8641 broad.mit.edu 37 5 140769259 140769259 + Missense_Mutation SNP C C T TCGA-CV-6956-01A-21D-2012-08 TCGA-CV-6956-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 9ccee056-124e-40d5-a07d-c208765d8640 d28213c6-eb6f-4348-aca4-6f384a3b6d71 g.chr5:140769259C>T uc003lkc.1 + 1 1808 c.1808C>T c.(1807-1809)TCC>TTC p.S603F PCDHGA1_uc003lji.1_Intron|PCDHGA2_uc003ljk.1_Intron|PCDHGA3_uc003ljm.1_Intron|PCDHGA3_uc010jfx.1_Intron|PCDHGB1_uc003ljo.1_Intron|PCDHGA4_uc003ljq.1_Intron|PCDHGB2_uc003ljs.1_Intron|PCDHGA5_uc003lju.1_Intron|PCDHGB3_uc003ljw.1_Intron|PCDHGA6_uc003ljy.1_Intron|PCDHGA7_uc003lka.1_Intron|PCDHGB4_uc011dav.1_Missense_Mutation_p.S603F NM_003736 NP_003727 Q9UN71 PCDGG_HUMAN protocadherin gamma subfamily B, 4 isoform 1 603 Extracellular (Potential).|Cadherin 6. calcium-dependent cell-cell adhesion|homophilic cell adhesion integral to membrane|plasma membrane calcium ion binding 0 KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191) GCCTGGCTGTCCTACCACGTG 0.662 NA 28 21 0 0 0 0 PCDHGC3 5098 broad.mit.edu 37 5 140857945 140857945 + Silent SNP G G A TCGA-CV-6956-01A-21D-2012-08 TCGA-CV-6956-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 9ccee056-124e-40d5-a07d-c208765d8640 d28213c6-eb6f-4348-aca4-6f384a3b6d71 g.chr5:140857945G>A uc003lkv.1 + 1 2377 c.2262G>A c.(2260-2262)CCG>CCA p.P754P PCDHGA1_uc003lji.1_Intron|PCDHGA2_uc003ljk.1_Intron|PCDHGA3_uc003ljm.1_Intron|PCDHGA3_uc010jfx.1_Intron|PCDHGB1_uc003ljo.1_Intron|PCDHGA4_uc003ljq.1_Intron|PCDHGB2_uc003ljs.1_Intron|PCDHGA5_uc003lju.1_Intron|PCDHGB3_uc003ljw.1_Intron|PCDHGA6_uc003ljy.1_Intron|PCDHGA7_uc003lka.1_Intron|PCDHGB4_uc003lkc.1_Intron|PCDHGA8_uc003lkd.1_Intron|PCDHGB5_uc003lkf.1_Intron|PCDHGA9_uc003lkh.1_Intron|PCDHGB6_uc003lkj.1_Intron|PCDHGA10_uc003lkl.1_Intron|PCDHGB7_uc003lkn.1_Intron|PCDHGA11_uc003lkp.1_Intron|PCDHGA11_uc003lkq.1_Intron|PCDHGA12_uc003lkt.1_Intron|PCDHGC3_uc003lku.1_Silent_p.P754P|PCDHGC3_uc003lkw.1_Intron NM_002588 NP_002579 Q9UN70 PCDGK_HUMAN protocadherin gamma subfamily C, 3 isoform 1 754 Cytoplasmic (Potential). calcium-dependent cell-cell adhesion|homophilic cell adhesion integral to membrane|plasma membrane calcium ion binding ovary(1)|skin(1) 2 KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191) TGATGTCGCCGCACCTTTACC 0.642 NA OREG0016865 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 51 37 0 0 0 0 PDGFRB 5159 broad.mit.edu 37 5 149503837 149503837 + Missense_Mutation SNP G G T TCGA-CV-6956-01A-21D-2012-08 TCGA-CV-6956-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 9ccee056-124e-40d5-a07d-c208765d8640 d28213c6-eb6f-4348-aca4-6f384a3b6d71 g.chr5:149503837G>T uc003lro.2 - 14 2468 c.1999C>A c.(1999-2001)CTG>ATG p.L667M PDGFRB_uc010jhd.2_Missense_Mutation_p.L506M NM_002609 NP_002600 P09619 PGFRB_HUMAN platelet-derived growth factor receptor beta 667 Cytoplasmic (Potential).|Protein kinase. aorta morphogenesis|cardiac myofibril assembly|hemopoiesis|metanephric glomerular capillary formation|metanephric glomerular mesangial cell proliferation involved in metanephros development|peptidyl-tyrosine phosphorylation|positive regulation of calcium ion import|positive regulation of chemotaxis|positive regulation of DNA biosynthetic process|positive regulation of ERK1 and ERK2 cascade|positive regulation of MAP kinase activity|positive regulation of metanephric mesenchymal cell migration by platelet-derived growth factor receptor-beta signaling pathway|positive regulation of mitosis|positive regulation of phosphatidylinositol 3-kinase cascade|positive regulation of reactive oxygen species metabolic process|positive regulation of smooth muscle cell migration|positive regulation of smooth muscle cell proliferation|protein autophosphorylation|regulation of actin cytoskeleton organization|retina vasculature development in camera-type eye|smooth muscle cell chemotaxis apical plasma membrane|cytoplasm|integral to plasma membrane|nucleus ATP binding|platelet activating factor receptor activity|platelet-derived growth factor beta-receptor activity|platelet-derived growth factor binding|platelet-derived growth factor receptor binding|vascular endothelial growth factor receptor activity central_nervous_system(4)|lung(4)|breast(3)|stomach(2)|prostate(2)|large_intestine(1)|ovary(1) 17 all_hematologic(541;0.224) KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101) Becaplermin(DB00102)|Dasatinib(DB01254)|Imatinib(DB00619)|Sorafenib(DB00398)|Sunitinib(DB01268) GCCCCCAACAGGTTGACCACG 0.632 NA T ETV6|TRIP11|HIP1|RAB5EP|H4|NIN|HCMOGT-1|PDE4DIP MPD|AML|CMML|CML 19 22 4.35e-09 4.79e-09 1 0 CDX1 1044 broad.mit.edu 37 5 149562339 149562339 + Silent SNP C C A TCGA-CV-6956-01A-21D-2012-08 TCGA-CV-6956-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 9ccee056-124e-40d5-a07d-c208765d8640 d28213c6-eb6f-4348-aca4-6f384a3b6d71 g.chr5:149562339C>A uc003lrq.2 + 2 550 c.454C>A c.(454-456)CGG>AGG p.R152R NM_001804 NP_001795 P47902 CDX1_HUMAN caudal type homeobox 1 152 nucleus sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity ovary(1)|central_nervous_system(1) 2 all_hematologic(541;0.224) KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101) AGGTAAGACTCGGACCAAGGA 0.557 NA 97 73 9.72e-31 1.15e-30 1 0 RNF44 22838 broad.mit.edu 37 5 175956543 175956543 + Missense_Mutation SNP G G A TCGA-CV-6956-01A-21D-2012-08 TCGA-CV-6956-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 9ccee056-124e-40d5-a07d-c208765d8640 d28213c6-eb6f-4348-aca4-6f384a3b6d71 g.chr5:175956543G>A uc003mek.1 - 9 1642 c.1117C>T c.(1117-1119)CAT>TAT p.H373Y RNF44_uc011dfo.1_Missense_Mutation_p.H281Y|RNF44_uc003mel.1_Missense_Mutation_p.H62Y NM_014901 NP_055716 Q7L0R7 RNF44_HUMAN ring finger protein 44 373 zinc ion binding 0 all_cancers(89;0.0029)|Renal(175;0.000269)|Lung NSC(126;0.00902)|all_lung(126;0.0142) Medulloblastoma(196;0.0208)|all_neural(177;0.0416) Kidney(164;3.85e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178) TCCGACTGATGGCTGTCCGGG 0.647 NA 22 25 0 0 0 0 NSD1 64324 broad.mit.edu 37 5 176709523 176709523 + Nonsense_Mutation SNP C C T TCGA-CV-6956-01A-21D-2012-08 TCGA-CV-6956-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 9ccee056-124e-40d5-a07d-c208765d8640 d28213c6-eb6f-4348-aca4-6f384a3b6d71 g.chr5:176709523C>T uc003mfr.3 + 19 6088 c.5950C>T c.(5950-5952)CGA>TGA p.R1984* NSD1_uc003mft.3_Nonsense_Mutation_p.R1715*|NSD1_uc011dfx.1_Nonsense_Mutation_p.R1632* NM_022455 NP_071900 Q96L73 NSD1_HUMAN nuclear receptor binding SET domain protein 1 1984 SET. R -> Q (in SOTOSS; loss of enzyme activity). negative regulation of transcription from RNA polymerase II promoter|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent chromosome|nucleus androgen receptor binding|chromatin binding|estrogen receptor binding|histone methyltransferase activity (H3-K36 specific)|histone methyltransferase activity (H4-K20 specific)|ligand-dependent nuclear receptor binding|retinoid X receptor binding|thyroid hormone receptor binding|transcription corepressor activity|zinc ion binding ovary(2)|kidney(1) 3 all_cancers(89;1.57e-05)|Renal(175;0.000269)|Lung NSC(126;0.00111)|all_lung(126;0.002) 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)|Epithelial(233;0.198) Kidney(146;0.235) ATGCAGAGCTCGAATTCGCTA 0.373 NA T NUP98 AML Sotos Syndrome Beckwith-Wiedemann_syndrome|Sotos_syndrome|Weaver_syndrome HNSCC(47;0.14) 38 28 0 0 0 0 GNB2L1 10399 broad.mit.edu 37 5 180666087 180666087 + Missense_Mutation SNP G G A TCGA-CV-6956-01A-21D-2012-08 TCGA-CV-6956-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 9ccee056-124e-40d5-a07d-c208765d8640 d28213c6-eb6f-4348-aca4-6f384a3b6d71 g.chr5:180666087G>A uc003mni.1 - 5 722 c.616C>T c.(616-618)CTC>TTC p.L206F GNB2L1_uc003mnh.1_Missense_Mutation_p.L165F|GNB2L1_uc003mnk.1_Missense_Mutation_p.L128F|GNB2L1_uc003mnj.1_Missense_Mutation_p.L160F|GNB2L1_uc003mnl.1_5'UTR|GNB2L1_uc011dhk.1_Missense_Mutation_p.L206F|GNB2L1_uc010jls.2_3'UTR NM_006098 NP_006089 P63244 GBLP_HUMAN guanine nucleotide binding protein (G protein), 206 WD 5. apoptosis|cell cycle|gastrulation|interspecies interaction between organisms|negative regulation of cell growth|negative regulation of phagocytosis|negative regulation of translation|negative regulation of Wnt receptor signaling pathway|positive regulation of apoptosis|positive regulation of cell migration|positive regulation of gastrulation|positive regulation of GTPase activity|positive regulation of proteasomal ubiquitin-dependent protein catabolic process|positive regulation of protein homooligomerization|positive regulation of protein phosphorylation|regulation of cell cycle|regulation of cell division|regulation of establishment of cell polarity|regulation of protein localization|rhythmic process cytoskeleton|dendrite|midbody|nucleus|perikaryon|perinuclear region of cytoplasm|phagocytic cup|small ribosomal subunit ion channel inhibitor activity|protein kinase C binding|protein phosphatase binding|protein tyrosine kinase inhibitor activity|receptor tyrosine kinase binding|SH2 domain binding 0 all_cancers(89;8.79e-06)|all_epithelial(37;1.13e-06)|Renal(175;0.000159)|Lung NSC(126;0.00354)|all_lung(126;0.00609)|Breast(19;0.0654) all_cancers(40;0.000209)|Medulloblastoma(196;0.0133)|all_neural(177;0.0199)|all_lung(500;0.0221)|all_hematologic(541;0.0433)|Lung NSC(249;0.132)|Ovarian(839;0.238) Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178) GBM - Glioblastoma multiforme(465;0.101)|all cancers(165;0.11) GAAGCACAGAGGGATCCATCT 0.522 NA 47 45 0 0 0 0 HIST1H3H 8357 broad.mit.edu 37 6 27778004 27778004 + Silent SNP G G A TCGA-CV-6956-01A-21D-2012-08 TCGA-CV-6956-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 9ccee056-124e-40d5-a07d-c208765d8640 d28213c6-eb6f-4348-aca4-6f384a3b6d71 g.chr6:27778004G>A uc003njm.2 + 1 163 c.153G>A c.(151-153)GAG>GAA p.E51E HIST1H2BL_uc003njl.2_5'Flank NM_003536 NP_003527 P68431 H31_HUMAN histone cluster 1, H3h 51 blood coagulation|nucleosome assembly|regulation of gene silencing|S phase nucleoplasm|nucleosome DNA binding|protein binding ovary(1) 1 CTCTCCGCGAGATTCGCCGCT 0.627 NA 29 53 0 0 0 0 ABCF1 23 broad.mit.edu 37 6 30546284 30546284 + Missense_Mutation SNP G G C TCGA-CV-6956-01A-21D-2012-08 TCGA-CV-6956-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 9ccee056-124e-40d5-a07d-c208765d8640 d28213c6-eb6f-4348-aca4-6f384a3b6d71 g.chr6:30546284G>C uc003nql.2 + 6 514 c.419G>C c.(418-420)AGT>ACT p.S140T ABCF1_uc003nqk.2_Missense_Mutation_p.S141T|ABCF1_uc003nqm.2_Missense_Mutation_p.S140T|ABCF1_uc010jsb.2_Intron NM_001025091 NP_001020262 Q8NE71 ABCF1_HUMAN ATP-binding cassette, sub-family F, member 1 140 S->A: Reduces phosphorylation. Inhibits strongly phosphorylation by CK2; when associated with S-109. Does not inhibits interaction with EIF2; when associated with S-109. Does not inhibit association with ribosomes; when associated with S- 109. Reduces EIF2 interaction with ribosomes; when associated with S-109. Does not inhibit protein synthesis; when associated with A-109. inflammatory response|translational initiation nuclear envelope|nuclear envelope|nucleoplasm|nucleoplasm|polysomal ribosome ATP binding|ATP binding|ATPase activity|protein binding|ribosome binding|translation activator activity|translation factor activity, nucleic acid binding ovary(2) 2 CAGGATCAGAGTGAGGAAGAG 0.502 NA 19 5 0 0 0 0 BRD2 6046 broad.mit.edu 37 6 32947816 32947816 + Nonsense_Mutation SNP G G T TCGA-CV-6956-01A-21D-2012-08 TCGA-CV-6956-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 9ccee056-124e-40d5-a07d-c208765d8640 d28213c6-eb6f-4348-aca4-6f384a3b6d71 g.chr6:32947816G>T uc003ocn.3 + 11 3754 c.2053G>T c.(2053-2055)GAG>TAG p.E685* BRD2_uc003ocq.3_Nonsense_Mutation_p.E685*|BRD2_uc003ocp.3_Nonsense_Mutation_p.E565*|BRD2_uc010juh.2_Nonsense_Mutation_p.E720* NM_005104 NP_005095 P25440 BRD2_HUMAN bromodomain containing 2 685 ET. spermatogenesis nucleus protein serine/threonine kinase activity central_nervous_system(3)|stomach(2) 5 AGAAGAGATTGAGATTGATTT 0.483 NA 4 60 1.24e-05 1.32e-05 1 0 DNAH8 1769 broad.mit.edu 37 6 38885712 38885712 + Silent SNP A A G TCGA-CV-6956-01A-21D-2012-08 TCGA-CV-6956-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 9ccee056-124e-40d5-a07d-c208765d8640 d28213c6-eb6f-4348-aca4-6f384a3b6d71 g.chr6:38885712A>G uc003ooe.1 + 68 10269 c.9669A>G c.(9667-9669)GCA>GCG p.A3223A uc003oof.1_Intron 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 TGATGAGTGCAACAGGATTCC 0.333 NA 3 43 0 0 0 0 DEFB114 245928 broad.mit.edu 37 6 49928037 49928037 + Missense_Mutation SNP C C T TCGA-CV-6956-01A-21D-2012-08 TCGA-CV-6956-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 9ccee056-124e-40d5-a07d-c208765d8640 d28213c6-eb6f-4348-aca4-6f384a3b6d71 g.chr6:49928037C>T uc011dwp.1 - 2 178 c.178G>A c.(178-180)GAG>AAG p.E60K NM_001037499 NP_001032588 Q30KQ6 DB114_HUMAN beta-defensin 114 precursor 60 defense response to bacterium extracellular region ovary(1) 1 Lung NSC(77;0.042) TACAATTTCTCAGTGCAGCAA 0.378 NA 12 24 0 0 0 0 SYNCRIP 10492 broad.mit.edu 37 6 86324795 86324795 + Silent SNP G G A TCGA-CV-6956-01A-21D-2012-08 TCGA-CV-6956-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 9ccee056-124e-40d5-a07d-c208765d8640 d28213c6-eb6f-4348-aca4-6f384a3b6d71 g.chr6:86324795G>A uc003pla.2 - 11 2092 c.1551C>T c.(1549-1551)CCC>CCT p.P517P SYNCRIP_uc003pku.2_Silent_p.P517P|SYNCRIP_uc003pkw.2_Silent_p.P482P|SYNCRIP_uc003pky.2_Silent_p.P419P|SYNCRIP_uc003pkv.2_Silent_p.P517P|SYNCRIP_uc003pkx.2_Silent_p.P365P|SYNCRIP_uc003pkz.2_Silent_p.P482P NM_006372 NP_006363 O60506 HNRPQ_HUMAN synaptotagmin binding, cytoplasmic RNA 517 Interaction with APOBEC1.|8 X 3 AA repeats of R-G-G. CRD-mediated mRNA stabilization|interspecies interaction between organisms catalytic step 2 spliceosome|CRD-mediated mRNA stability complex|endoplasmic reticulum|histone pre-mRNA 3'end processing complex|microsome|nucleoplasm nucleotide binding|protein binding ovary(2) 2 all_cancers(76;0.000137)|Acute lymphoblastic leukemia(125;3.66e-08)|Prostate(29;8.2e-07)|all_hematologic(105;8.61e-05)|all_epithelial(107;0.0297) BRCA - Breast invasive adenocarcinoma(108;0.0389) CTCTACCGCGGGGAGGAGCAG 0.577 NA 85 45 0 0 0 0 RFX6 222546 broad.mit.edu 37 6 117198535 117198535 + Silent SNP C C T TCGA-CV-6956-01A-21D-2012-08 TCGA-CV-6956-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 9ccee056-124e-40d5-a07d-c208765d8640 d28213c6-eb6f-4348-aca4-6f384a3b6d71 g.chr6:117198535C>T uc003pxm.2 + 1 160 c.97C>T c.(97-99)CTG>TTG p.L33L NM_173560 NP_775831 Q8HWS3 RFX6_HUMAN regulatory factor X, 6 33 glucose homeostasis|pancreatic A cell differentiation|pancreatic D cell differentiation|pancreatic E cell differentiation|positive regulation of transcription, DNA-dependent|regulation of insulin secretion|transcription, DNA-dependent|type B pancreatic cell differentiation nucleus protein binding|transcription regulatory region DNA binding ovary(1)|pancreas(1)|skin(1) 3 TGTGCAGCTCCTGGGCAAGGG 0.667 NA 15 6 0 0 0 0 FAM184A 79632 broad.mit.edu 37 6 119345399 119345399 + Missense_Mutation SNP C C G TCGA-CV-6956-01A-21D-2012-08 TCGA-CV-6956-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 9ccee056-124e-40d5-a07d-c208765d8640 d28213c6-eb6f-4348-aca4-6f384a3b6d71 g.chr6:119345399C>G uc003pyj.2 - 2 1087 c.739G>C c.(739-741)GAT>CAT p.D247H FAM184A_uc003pyk.3_Missense_Mutation_p.D127H|FAM184A_uc003pyl.3_Missense_Mutation_p.D127H NM_024581 NP_078857 Q8NB25 F184A_HUMAN hypothetical protein LOC79632 isoform 1 247 Potential. ovary(2)|central_nervous_system(2)|skin(2)|pancreas(1) 7 CCTTCATAATCCTCAATTAGT 0.423 NA 16 39 0 0 0 0 ULBP2 80328 broad.mit.edu 37 6 150263229 150263229 + Silent SNP C C A TCGA-CV-6956-01A-21D-2012-08 TCGA-CV-6956-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 9ccee056-124e-40d5-a07d-c208765d8640 d28213c6-eb6f-4348-aca4-6f384a3b6d71 g.chr6:150263229C>A uc003qno.2 + 1 94 c.21C>A c.(19-21)ACC>ACA p.T7T ULBP2_uc011eeh.1_Silent_p.T7T|ULBP2_uc010kij.2_Silent_p.T7T NM_025217 NP_079493 Q9BZM5 N2DL2_HUMAN UL16 binding protein 2 precursor 7 antigen processing and presentation|immune response|natural killer cell activation|regulation of immune response anchored to membrane|cell surface|extracellular space|MHC class I protein complex MHC class I receptor activity 0 Ovarian(120;0.0907) BRCA - Breast invasive adenocarcinoma(37;0.193) OV - Ovarian serous cystadenocarcinoma(155;2.58e-12) CCGCCGCTACCAAGATCCTTC 0.607 NA 18 7 1.34e-09 1.48e-09 1 0 PDE10A 10846 broad.mit.edu 37 6 165862443 165862443 + Silent SNP T T A TCGA-CV-6956-01A-21D-2012-08 TCGA-CV-6956-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 9ccee056-124e-40d5-a07d-c208765d8640 d28213c6-eb6f-4348-aca4-6f384a3b6d71 g.chr6:165862443T>A uc003qun.2 - 6 580 c.339A>T c.(337-339)GCA>GCT p.A113A PDE10A_uc011egj.1_RNA|PDE10A_uc011egk.1_Silent_p.A43A|PDE10A_uc003quo.2_Silent_p.A123A NM_006661 NP_006652 Q9Y233 PDE10_HUMAN phosphodiesterase 10A isoform 2 113 GAF 1. platelet activation|signal transduction cytosol 3',5'-cyclic-AMP phosphodiesterase activity|3',5'-cyclic-GMP phosphodiesterase activity|cAMP binding|cGMP binding|metal ion binding ovary(3)|skin(2) 5 Breast(66;0.000425)|Prostate(117;0.104)|Ovarian(120;0.221) OV - Ovarian serous cystadenocarcinoma(33;1.5e-17)|BRCA - Breast invasive adenocarcinoma(81;1.8e-06)|GBM - Glioblastoma multiforme(31;1.92e-05) Dipyridamole(DB00975) GGAAATACAGTGCAAATCCAT 0.368 NA 23 38 0 0 0 0 ZFAND2A 90637 broad.mit.edu 37 7 1197827 1197827 + Missense_Mutation SNP T T G TCGA-CV-6956-01A-21D-2012-08 TCGA-CV-6956-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 9ccee056-124e-40d5-a07d-c208765d8640 d28213c6-eb6f-4348-aca4-6f384a3b6d71 g.chr7:1197827T>G uc003skc.2 - 2 323 c.22A>C c.(22-24)AAG>CAG p.K8Q ZFAND2A_uc003skd.3_Missense_Mutation_p.K8Q|uc003skf.1_5'Flank NM_182491 NP_872297 Q8N6M9 ZFN2A_HUMAN zinc finger, AN1-type domain 2A 8 AN1-type 1. cytoplasm|nucleus zinc ion binding ovary(1) 1 Ovarian(82;0.11) UCEC - Uterine corpus endometrioid carcinoma (27;0.0178)|OV - Ovarian serous cystadenocarcinoma(56;1.82e-15) GAACAATGCTTCCCCAAATCA 0.408 NA 48 230 0 0 0 0 PKD1L1 168507 broad.mit.edu 37 7 47898336 47898336 + Missense_Mutation SNP C C G TCGA-CV-6956-01A-21D-2012-08 TCGA-CV-6956-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 9ccee056-124e-40d5-a07d-c208765d8640 d28213c6-eb6f-4348-aca4-6f384a3b6d71 g.chr7:47898336C>G uc003tny.1 - 27 4297 c.4297G>C c.(4297-4299)GAA>CAA p.E1433Q NM_138295 NP_612152 Q8TDX9 PK1L1_HUMAN polycystin-1L1 1433 Extracellular (Potential).|REJ. cell-cell adhesion integral to membrane ovary(8)|upper_aerodigestive_tract(2)|breast(1) 11 TTCGAGTTTTCTTGCTCAGAG 0.438 NA 16 57 0 0 0 0 ASB4 51666 broad.mit.edu 37 7 95157465 95157465 + Silent SNP C C A rs146416403 by1000genomes TCGA-CV-6956-01A-21D-2012-08 TCGA-CV-6956-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 9ccee056-124e-40d5-a07d-c208765d8640 d28213c6-eb6f-4348-aca4-6f384a3b6d71 g.chr7:95157465C>A uc011kij.1 + 3 828 c.828C>A c.(826-828)GCC>GCA p.A276A ASB4_uc003unx.2_Silent_p.A276A NM_016116 NP_057200 Q9Y574 ASB4_HUMAN ankyrin repeat and SOCS box-containing protein 4 276 ANK 6. intracellular signal transduction central_nervous_system(1) 1 all_cancers(62;2.27e-10)|all_epithelial(64;2.28e-09)|Lung NSC(181;0.218)|all_lung(186;0.246) STAD - Stomach adenocarcinoma(171;0.0151) AAGCTGGCGCCGAAGCCAATC 0.577 NA OREG0018172 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 21 35 8.1e-08 8.87e-08 1 0 CHRM2 1129 broad.mit.edu 37 7 136700385 136700385 + Missense_Mutation SNP A A G rs142006633 byFrequency TCGA-CV-6956-01A-21D-2012-08 TCGA-CV-6956-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 9ccee056-124e-40d5-a07d-c208765d8640 d28213c6-eb6f-4348-aca4-6f384a3b6d71 g.chr7:136700385A>G uc003vtf.1 + 4 1396 c.773A>G c.(772-774)AAC>AGC p.N258S CHRM2_uc003vtg.1_Missense_Mutation_p.N258S|CHRM2_uc003vtj.1_Missense_Mutation_p.N258S|CHRM2_uc003vtk.1_Missense_Mutation_p.N258S|CHRM2_uc003vtl.1_Missense_Mutation_p.N258S|CHRM2_uc003vtm.1_Missense_Mutation_p.N258S|CHRM2_uc003vti.1_Missense_Mutation_p.N258S|CHRM2_uc003vto.1_Missense_Mutation_p.N258S|CHRM2_uc003vtn.1_Missense_Mutation_p.N258S|uc003vtp.1_Intron NM_001006630 NP_001006631 P08172 ACM2_HUMAN cholinergic receptor, muscarinic 2 258 Cytoplasmic (By similarity). activation of phospholipase C activity by muscarinic acetylcholine receptor signaling pathway|G-protein signaling, coupled to cAMP nucleotide second messenger|nervous system development|regulation of heart contraction|response to virus cell junction|integral to plasma membrane|postsynaptic membrane muscarinic acetylcholine receptor activity|protein binding ovary(4)|central_nervous_system(1) 5 Anisotropine Methylbromide(DB00517)|Atropine(DB00572)|Benzquinamide(DB00767)|Carbachol(DB00411)|Cryptenamine(DB00785)|Cyclizine(DB01176)|Desipramine(DB01151)|Diphenidol(DB01231)|Doxacurium(DB01334)|Doxacurium chloride(DB01135)|Flavoxate(DB01148)|Gallamine Triethiodide(DB00483)|Homatropine Methylbromide(DB00725)|Hyoscyamine(DB00424)|Ipratropium(DB00332)|Methotrimeprazine(DB01403)|Metixene(DB00340)|Metocurine(DB01336)|Mivacurium(DB01226)|Olanzapine(DB00334)|Oxybutynin(DB01062)|Oxyphencyclimine(DB00383)|Pilocarpine(DB01085)|Procyclidine(DB00387)|Promazine(DB00420)|Promethazine(DB01069)|Propiomazine(DB00777)|Rocuronium(DB00728)|Thiethylperazine(DB00372)|Tolterodine(DB01036)|Tridihexethyl(DB00505)|Triflupromazine(DB00508) CTGGAGCACAACAAAATCCAG 0.512 NA 10 19 0 0 0 0 MGAM 8972 broad.mit.edu 37 7 141730195 141730195 + Missense_Mutation SNP G G A TCGA-CV-6956-01A-21D-2012-08 TCGA-CV-6956-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 9ccee056-124e-40d5-a07d-c208765d8640 d28213c6-eb6f-4348-aca4-6f384a3b6d71 g.chr7:141730195G>A uc003vwy.2 + 11 1309 c.1255G>A c.(1255-1257)GAG>AAG p.E419K NM_004668 NP_004659 O43451 MGA_HUMAN maltase-glucoamylase 419 Lumenal (Potential).|Maltase. polysaccharide digestion|starch catabolic process apical plasma membrane|integral to membrane carbohydrate binding|glucan 1,4-alpha-glucosidase activity|maltose alpha-glucosidase activity ovary(2) 2 Melanoma(164;0.0272) Acarbose(DB00284)|Miglitol(DB00491)|Voglibose(DB04878) TTATATGGATGAGAGAAGGGA 0.348 NA 7 13 0 0 0 0 PTPRN2 5799 broad.mit.edu 37 7 157959789 157959789 + Silent SNP G G A TCGA-CV-6956-01A-21D-2012-08 TCGA-CV-6956-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 9ccee056-124e-40d5-a07d-c208765d8640 d28213c6-eb6f-4348-aca4-6f384a3b6d71 g.chr7:157959789G>A uc003wno.2 - 6 865 c.744C>T c.(742-744)GCC>GCT p.A248A PTPRN2_uc003wnp.2_Silent_p.A231A|PTPRN2_uc003wnq.2_Silent_p.A248A|PTPRN2_uc003wnr.2_Silent_p.A210A|PTPRN2_uc011kwa.1_Silent_p.A271A NM_002847 NP_002838 Q92932 PTPR2_HUMAN protein tyrosine phosphatase, receptor type, N 248 Extracellular (Potential). integral to plasma membrane protein binding|transmembrane receptor protein tyrosine phosphatase activity ovary(4)|large_intestine(1)|pleura(1)|skin(1) 7 all_neural(206;0.181) all_cancers(7;8.99e-13)|all_epithelial(9;2.4e-06)|all_hematologic(28;0.0155)|Breast(660;0.132) OV - Ovarian serous cystadenocarcinoma(82;0.00463) STAD - Stomach adenocarcinoma(7;0.0875) GGGCAGCATAGGCACTGAGGG 0.662 NA 13 12 0 0 0 0 EFHA2 286097 broad.mit.edu 37 8 16884802 16884802 + Missense_Mutation SNP G G T TCGA-CV-6956-01A-21D-2012-08 TCGA-CV-6956-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 9ccee056-124e-40d5-a07d-c208765d8640 d28213c6-eb6f-4348-aca4-6f384a3b6d71 g.chr8:16884802G>T uc003wxd.2 + 1 56 c.14G>T c.(13-15)CGA>CTA p.R5L NM_181723 NP_859074 Q86XE3 EFHA2_HUMAN EF-hand domain family, member A2 5 integral to membrane calcium ion binding skin(1) 1 Colorectal(111;0.0686)|COAD - Colon adenocarcinoma(73;0.239) GCTGCGCTGCGAAGGCTCTTG 0.622 NA 8 15 1.59e-06 1.71e-06 1 0 DUSP26 78986 broad.mit.edu 37 8 33451188 33451188 + Missense_Mutation SNP C C T rs141858173 TCGA-CV-6956-01A-21D-2012-08 TCGA-CV-6956-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 9ccee056-124e-40d5-a07d-c208765d8640 d28213c6-eb6f-4348-aca4-6f384a3b6d71 g.chr8:33451188C>T uc003xjp.2 - 3 632 c.299G>A c.(298-300)CGA>CAA p.R100Q DUSP26_uc003xjq.2_Missense_Mutation_p.R100Q NM_024025 NP_076930 Q9BV47 DUS26_HUMAN dual specificity phosphatase 26 100 Tyrosine-protein phosphatase. Golgi apparatus|nucleus protein binding|protein tyrosine phosphatase activity|protein tyrosine/serine/threonine phosphatase activity 0 KIRC - Kidney renal clear cell carcinoma(67;0.0918)|Kidney(114;0.111) GGGCGTGCCTCGCCACCGGCT 0.632 NA 10 34 0 0 0 0 PRDM14 63978 broad.mit.edu 37 8 70978695 70978695 + Missense_Mutation SNP C C T TCGA-CV-6956-01A-21D-2012-08 TCGA-CV-6956-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 9ccee056-124e-40d5-a07d-c208765d8640 d28213c6-eb6f-4348-aca4-6f384a3b6d71 g.chr8:70978695C>T uc003xym.2 - 5 1160 c.958G>A c.(958-960)GGT>AGT p.G320S NM_024504 NP_078780 Q9GZV8 PRD14_HUMAN PR domain containing 14 320 SET. regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding ovary(3) 3 Breast(64;0.193) Epithelial(68;0.00508)|all cancers(69;0.0259)|OV - Ovarian serous cystadenocarcinoma(28;0.0405) TTCCCCGTACCTCCTTTTCCA 0.408 NA 36 50 0 0 0 0 TMEM67 91147 broad.mit.edu 37 8 94821068 94821068 + Missense_Mutation SNP G G A TCGA-CV-6956-01A-21D-2012-08 TCGA-CV-6956-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 9ccee056-124e-40d5-a07d-c208765d8640 d28213c6-eb6f-4348-aca4-6f384a3b6d71 g.chr8:94821068G>A uc011lgk.1 + 24 2511 c.2440G>A c.(2440-2442)GAA>AAA p.E814K TMEM67_uc010maw.2_Missense_Mutation_p.E520K|TMEM67_uc003yga.3_Missense_Mutation_p.E733K|TMEM67_uc011lgl.1_Missense_Mutation_p.E213K NM_153704 NP_714915 Q5HYA8 MKS3_HUMAN meckelin isoform 1 814 cilium assembly|ER-associated protein catabolic process|negative regulation of centrosome duplication centrosome|cilium membrane|cytoplasmic vesicle membrane|endoplasmic reticulum membrane|integral to membrane|microtubule basal body unfolded protein binding ovary(2) 2 Breast(36;4.14e-07) BRCA - Breast invasive adenocarcinoma(8;0.00896) AACTTTTCAGGAAAATTTGTG 0.308 NA 4 18 0 0 0 0 TSPYL5 85453 broad.mit.edu 37 8 98289495 98289495 + Missense_Mutation SNP G G A TCGA-CV-6956-01A-21D-2012-08 TCGA-CV-6956-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 9ccee056-124e-40d5-a07d-c208765d8640 d28213c6-eb6f-4348-aca4-6f384a3b6d71 g.chr8:98289495G>A uc003yhy.2 - 1 682 c.578C>T c.(577-579)TCG>TTG p.S193L NM_033512 NP_277047 Q86VY4 TSYL5_HUMAN TSPY-like 5 193 cellular response to gamma radiation|nucleosome assembly|positive regulation of cell proliferation|positive regulation of protein kinase B signaling cascade|positive regulation of protein ubiquitination|regulation of growth nucleus protein binding large_intestine(1)|ovary(1) 2 Breast(36;2.56e-06) TGGGGGCCCCGACCCTGCATC 0.622 NA 24 96 0 0 0 0 RRM2B 50484 broad.mit.edu 37 8 103236307 103236307 + Silent SNP A A G TCGA-CV-6956-01A-21D-2012-08 TCGA-CV-6956-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 9ccee056-124e-40d5-a07d-c208765d8640 d28213c6-eb6f-4348-aca4-6f384a3b6d71 g.chr8:103236307A>G uc003ykn.2 - 5 761 c.517T>C c.(517-519)TTG>CTG p.L173L RRM2B_uc003yko.2_RNA|RRM2B_uc010mbv.1_Silent_p.L121L|RRM2B_uc010mbw.1_Intron|RRM2B_uc010mbx.1_Intron|RRM2B_uc010mby.1_Intron NM_015713 NP_056528 Q7LG56 RIR2B_HUMAN ribonucleotide reductase M2 B (TP53 inducible) 173 deoxyribonucleoside diphosphate metabolic process|DNA repair|nucleobase, nucleoside and nucleotide interconversion nucleoplasm ribonucleoside-diphosphate reductase activity|transition metal ion binding ovary(2) 2 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;0.000728) ATCCATCGCAAGGCCCAATCT 0.333 NA Direct_reversal_of_damage|Modulation_of_nucleotide_pools 66 82 0 0 0 0 PKHD1L1 93035 broad.mit.edu 37 8 110461669 110461669 + Missense_Mutation SNP T T A TCGA-CV-6956-01A-21D-2012-08 TCGA-CV-6956-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 9ccee056-124e-40d5-a07d-c208765d8640 d28213c6-eb6f-4348-aca4-6f384a3b6d71 g.chr8:110461669T>A uc003yne.2 + 40 6232 c.6128T>A c.(6127-6129)CTT>CAT p.L2043H NM_177531 NP_803875 Q86WI1 PKHL1_HUMAN fibrocystin L precursor 2043 Extracellular (Potential).|IPT/TIG 13. 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) ATTGACAGGCTTAGATCTGAT 0.353 NA HNSCC(38;0.096) 5 5 0 0 0 0 COL14A1 7373 broad.mit.edu 37 8 121256222 121256222 + Silent SNP C C T TCGA-CV-6956-01A-21D-2012-08 TCGA-CV-6956-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 9ccee056-124e-40d5-a07d-c208765d8640 d28213c6-eb6f-4348-aca4-6f384a3b6d71 g.chr8:121256222C>T uc003yox.2 + 20 2719 c.2454C>T c.(2452-2454)GTC>GTT p.V818V COL14A1_uc003yoy.2_Silent_p.V496V NM_021110 NP_066933 Q05707 COEA1_HUMAN collagen, type XIV, alpha 1 precursor 818 Fibronectin type-III 6. cell-cell adhesion|collagen fibril organization collagen type XIV|extracellular space collagen binding|extracellular matrix structural constituent|protein binding, bridging ovary(4)|kidney(4)|skin(2)|pancreas(1)|central_nervous_system(1) 12 Lung NSC(37;6.52e-07)|Ovarian(258;0.00769)|Hepatocellular(40;0.161) OV - Ovarian serous cystadenocarcinoma(1;6.47e-38)|STAD - Stomach adenocarcinoma(47;0.00503) GCGAAGGCGTCAGCGTCTCCG 0.498 NA 15 153 0 0 0 0 DOCK8 81704 broad.mit.edu 37 9 289552 289552 + Silent SNP C C T TCGA-CV-6956-01A-21D-2012-08 TCGA-CV-6956-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 9ccee056-124e-40d5-a07d-c208765d8640 d28213c6-eb6f-4348-aca4-6f384a3b6d71 g.chr9:289552C>T uc003zgf.2 + 4 487 c.375C>T c.(373-375)TAC>TAT p.Y125Y DOCK8_uc011lls.1_Silent_p.Y125Y|DOCK8_uc010mgu.2_5'UTR|DOCK8_uc010mgv.2_Silent_p.Y57Y|DOCK8_uc010mgt.2_Silent_p.Y57Y|DOCK8_uc003zgg.2_Silent_p.Y57Y|DOCK8_uc003zgh.2_RNA NM_203447 NP_982272 Q8NF50 DOCK8_HUMAN dedicator of cytokinesis 8 125 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) TTCAGACCTACATCCGTGAGT 0.328 NA 9 47 0 0 0 0 SYK 6850 broad.mit.edu 37 9 93650843 93650843 + Missense_Mutation SNP G G A TCGA-CV-6956-01A-21D-2012-08 TCGA-CV-6956-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 9ccee056-124e-40d5-a07d-c208765d8640 d28213c6-eb6f-4348-aca4-6f384a3b6d71 g.chr9:93650843G>A uc004aqz.2 + 13 1974 c.1769G>A c.(1768-1770)CGG>CAG p.R590Q SYK_uc004ara.2_Missense_Mutation_p.R567Q|SYK_uc004arb.2_Missense_Mutation_p.R567Q|SYK_uc004arc.2_Missense_Mutation_p.R590Q|SYK_uc011ltr.1_RNA|SYK_uc011lts.1_RNA|SYK_uc011ltt.1_RNA NM_003177 NP_003168 P43405 KSYK_HUMAN spleen tyrosine kinase isoform 1 590 Protein kinase. cell proliferation|integrin-mediated signaling pathway|interspecies interaction between organisms|leukocyte cell-cell adhesion|neutrophil chemotaxis|organ morphogenesis|platelet activation|protein complex assembly cytosol|T cell receptor complex ATP binding|integrin binding|non-membrane spanning protein tyrosine kinase activity lung(2)|stomach(1)|ovary(1)|skin(1) 5 AAAGGAGAGCGGATGGGGTGC 0.438 NA T ETV6|ITK MDS|peripheral T-cell lymphoma 6 16 0 0 0 0 NCBP1 4686 broad.mit.edu 37 9 100403139 100403139 + Missense_Mutation SNP C C G TCGA-CV-6956-01A-21D-2012-08 TCGA-CV-6956-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 9ccee056-124e-40d5-a07d-c208765d8640 d28213c6-eb6f-4348-aca4-6f384a3b6d71 g.chr9:100403139C>G uc004axq.2 + 2 557 c.98C>G c.(97-99)TCT>TGT p.S33C NM_002486 NP_002477 Q09161 NCBP1_HUMAN nuclear cap binding protein subunit 1, 80kDa 33 MIF4G. gene silencing by RNA|histone mRNA metabolic process|mRNA 3'-end processing|mRNA capping|mRNA cleavage|mRNA export from nucleus|ncRNA metabolic process|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay|positive regulation of mRNA 3'-end processing|positive regulation of viral transcription|regulation of translational initiation|spliceosomal snRNP assembly|termination of RNA polymerase II transcription|transcription elongation from RNA polymerase II promoter|viral reproduction cytosol|mRNA cap binding complex|nucleoplasm|ribonucleoprotein complex protein binding|RNA cap binding central_nervous_system(1) 1 Acute lymphoblastic leukemia(62;0.158) CATTTGGAATCTTTAATATGT 0.358 NA 28 51 0 0 0 0 OR1J2 26740 broad.mit.edu 37 9 125273891 125273891 + Missense_Mutation SNP G G A TCGA-CV-6956-01A-21D-2012-08 TCGA-CV-6956-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 9ccee056-124e-40d5-a07d-c208765d8640 d28213c6-eb6f-4348-aca4-6f384a3b6d71 g.chr9:125273891G>A uc004bmj.1 + 4 1666 c.811G>A c.(811-813)GAT>AAT p.D271N OR1J2_uc011lyv.1_Missense_Mutation_p.D271N NM_054107 NP_473448 Q8NGS2 OR1J2_HUMAN olfactory receptor, family 1, subfamily J, 271 Extracellular (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity skin(3)|pancreas(1)|breast(1) 5 TATTGACAAGGATGTCATTGT 0.473 NA 62 126 0 0 0 0 TTC16 158248 broad.mit.edu 37 9 130482360 130482360 + Nonsense_Mutation SNP C C T TCGA-CV-6956-01A-21D-2012-08 TCGA-CV-6956-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 9ccee056-124e-40d5-a07d-c208765d8640 d28213c6-eb6f-4348-aca4-6f384a3b6d71 g.chr9:130482360C>T uc004brq.1 + 5 497 c.430C>T c.(430-432)CAA>TAA p.Q144* PTRH1_uc011mah.1_Intron|TTC16_uc011mai.1_Nonsense_Mutation_p.Q131*|TTC16_uc004brr.1_Nonsense_Mutation_p.Q89*|TTC16_uc010mxn.1_5'Flank NM_144965 NP_659402 Q8NEE8 TTC16_HUMAN tetratricopeptide repeat domain 16 144 TPR 3. binding 0 TCCCCAGGGACAATGCCTTTT 0.577 NA 45 51 0 0 0 0 SEC16A 9919 broad.mit.edu 37 9 139366454 139366454 + Missense_Mutation SNP C C T TCGA-CV-6956-01A-21D-2012-08 TCGA-CV-6956-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 9ccee056-124e-40d5-a07d-c208765d8640 d28213c6-eb6f-4348-aca4-6f384a3b6d71 g.chr9:139366454C>T uc004chx.2 - 4 3986 c.3677G>A c.(3676-3678)AGC>AAC p.S1226N SEC16A_uc004chv.3_Missense_Mutation_p.S616N|SEC16A_uc004chw.2_Missense_Mutation_p.S1226N|SEC16A_uc010nbn.2_Missense_Mutation_p.S1226N NM_014866 NP_055681 O15027 SC16A_HUMAN SEC16 homolog A 1048 Required for endoplasmic reticulum localization. protein transport|vesicle-mediated transport endoplasmic reticulum membrane|Golgi membrane 0 Myeloproliferative disorder(178;0.0511) Epithelial(140;2.9e-06)|OV - Ovarian serous cystadenocarcinoma(145;5.88e-06) CGAGGAGTGGCTGGCTCGGGA 0.637 NA 33 37 0 0 0 0 ENTPD8 377841 broad.mit.edu 37 9 140330690 140330690 + Silent SNP G G A TCGA-CV-6956-01A-21D-2012-08 TCGA-CV-6956-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 9ccee056-124e-40d5-a07d-c208765d8640 d28213c6-eb6f-4348-aca4-6f384a3b6d71 g.chr9:140330690G>A uc004cmw.2 - 7 1009 c.825C>T c.(823-825)CTC>CTT p.L275L C9orf167_uc011mew.1_Intron|ENTPD8_uc004cmx.2_Silent_p.L275L NM_001033113 NP_001028285 Q5MY95 ENTP8_HUMAN ectonucleoside triphosphate diphosphohydrolase 8 275 Extracellular (Potential). integral to membrane|plasma membrane ATP binding skin(1) 1 all_cancers(76;0.0926) OV - Ovarian serous cystadenocarcinoma(145;0.000224)|Epithelial(140;0.000898) GGTAGCCGCTGAGGTAGCACG 0.706 NA 12 32 0 0 0 0 NR0B1 190 broad.mit.edu 37 X 30327172 30327172 + Silent SNP C C A TCGA-CV-6956-01A-21D-2012-08 TCGA-CV-6956-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 9ccee056-124e-40d5-a07d-c208765d8640 d28213c6-eb6f-4348-aca4-6f384a3b6d71 g.chrX:30327172C>A uc004dcf.3 - 1 324 c.309G>T c.(307-309)CCG>CCT p.P103P NM_000475 NP_000466 P51843 NR0B1_HUMAN nuclear receptor subfamily 0, group B, member 1 103 4 X 67 AA tandem repeats.|2. adrenal gland development|hypothalamus development|negative regulation of sequence-specific DNA binding transcription factor activity|negative regulation of steroid hormone receptor signaling pathway|pituitary gland development|protein localization|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor|steroid biosynthetic process cytoplasm|membrane fraction|nucleoplasm|nucleus|polysomal ribosome AF-2 domain binding|DNA hairpin binding|ligand-regulated transcription factor activity|protein domain specific binding|protein homodimerization activity|RNA binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|steroid hormone receptor activity|steroid hormone receptor binding|transcription corepressor activity|transcription factor binding ovary(1)|lung(1) 2 Dexamethasone(DB01234)|Tretinoin(DB00755) AGCCCCAGCACGGACCCAGCG 0.677 NA OREG0019719 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 20 15 2.38e-13 2.7e-13 1 0 DCAF12L1 139170 broad.mit.edu 37 X 125686264 125686264 + Missense_Mutation SNP G G T TCGA-CV-6956-01A-21D-2012-08 TCGA-CV-6956-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 9ccee056-124e-40d5-a07d-c208765d8640 d28213c6-eb6f-4348-aca4-6f384a3b6d71 g.chrX:125686264G>T uc004eul.2 - 1 579 c.328C>A c.(328-330)CAG>AAG p.Q110K NM_178470 NP_848565 Q5VU92 DC121_HUMAN DDB1 and CUL4 associated factor 12-like 1 110 skin(3)|ovary(1) 4 CACACCACCTGCCTGGAGTTC 0.637 NA 36 17 4.66e-17 5.41e-17 1 0 SMARCA1 6594 broad.mit.edu 37 X 128599869 128599869 + Missense_Mutation SNP T T G TCGA-CV-6956-01A-21D-2012-08 TCGA-CV-6956-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 9ccee056-124e-40d5-a07d-c208765d8640 d28213c6-eb6f-4348-aca4-6f384a3b6d71 g.chrX:128599869T>G uc004eun.3 - 22 2882 c.2769A>C c.(2767-2769)GAA>GAC p.E923D SMARCA1_uc004eup.3_Missense_Mutation_p.E911D|SMARCA1_uc011muk.1_Missense_Mutation_p.E923D|SMARCA1_uc011mul.1_Missense_Mutation_p.E911D NM_003069 NP_003060 P28370 SMCA1_HUMAN SWI/SNF-related matrix-associated 923 ATP-dependent chromatin remodeling|brain development|neuron differentiation|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent NURF complex ATP binding|DNA binding|helicase activity|nucleosome binding|protein binding ovary(3)|skin(1) 4 GAATTCTTGCTTCTCCACGTT 0.333 NA 29 21 0 0 0 0 GPC4 2239 broad.mit.edu 37 X 132438794 132438794 + Silent SNP G G A TCGA-CV-6956-01A-21D-2012-08 TCGA-CV-6956-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 9ccee056-124e-40d5-a07d-c208765d8640 d28213c6-eb6f-4348-aca4-6f384a3b6d71 g.chrX:132438794G>A uc004exc.1 - 7 1463 c.1251C>T c.(1249-1251)AAC>AAT p.N417N GPC4_uc011mvg.1_Silent_p.N347N NM_001448 NP_001439 O75487 GPC4_HUMAN glypican 4 precursor 417 anatomical structure morphogenesis|cell proliferation anchored to membrane|external side of plasma membrane|extracellular space|insoluble fraction|integral to plasma membrane|proteinaceous extracellular matrix heparan sulfate proteoglycan binding 0 Acute lymphoblastic leukemia(192;0.000127) CCTCATTGCCGTTTCCTGCAG 0.468 NA 74 35 0 0 0 0 GABRA3 2556 broad.mit.edu 37 X 151336735 151336735 + Missense_Mutation SNP C C T TCGA-CV-6956-01A-21D-2012-08 TCGA-CV-6956-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 9ccee056-124e-40d5-a07d-c208765d8640 d28213c6-eb6f-4348-aca4-6f384a3b6d71 g.chrX:151336735C>T uc010ntk.1 - 10 1684 c.1444G>A c.(1444-1446)GAG>AAG p.E482K NM_000808 NP_000799 P34903 GBRA3_HUMAN gamma-aminobutyric acid A receptor, alpha 3 482 gamma-aminobutyric acid signaling pathway cell junction|chloride channel complex|integral to plasma membrane|postsynaptic membrane benzodiazepine receptor activity|chloride channel activity|extracellular ligand-gated ion channel activity|GABA-A receptor activity|protein binding ovary(1) 1 Acute lymphoblastic leukemia(192;6.56e-05) Alprazolam(DB00404)|Diazepam(DB00829)|Ethchlorvynol(DB00189)|Flunitrazepam(DB01544)|Flurazepam(DB00690)|Lorazepam(DB00186)|Meprobamate(DB00371)|Midazolam(DB00683) ATAGCTGACTCCCGGTTGACA 0.498 NA 35 13 0 0 0 0 ATP2B3 492 broad.mit.edu 37 X 152825277 152825277 + Missense_Mutation SNP G G A TCGA-CV-6956-01A-21D-2012-08 TCGA-CV-6956-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 9ccee056-124e-40d5-a07d-c208765d8640 d28213c6-eb6f-4348-aca4-6f384a3b6d71 g.chrX:152825277G>A uc004fht.1 + 16 2842 c.2716G>A c.(2716-2718)GAG>AAG p.E906K ATP2B3_uc004fhs.1_Missense_Mutation_p.E906K|ATP2B3_uc010nuf.1_5'Flank|ATP2B3_uc004fhu.1_5'Flank NM_001001344 NP_001001344 Q16720 AT2B3_HUMAN plasma membrane calcium ATPase 3 isoform 3b 906 Cytoplasmic (Potential). ATP biosynthetic process|platelet activation integral to membrane|plasma membrane ATP binding|calcium-transporting ATPase activity|calmodulin binding|metal ion binding pancreas(1) 1 all_hematologic(71;4.25e-06)|Acute lymphoblastic leukemia(192;6.56e-05) GCCACCCACAGAGTCGCTGCT 0.597 NA 35 11 0 0 0 0 NIPA2 81614 broad.mit.edu 37 15 23006728 23006729 + Frame_Shift_Ins INS - - G TCGA-CV-6956-01A-21D-2012-08 TCGA-CV-6956-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 9ccee056-124e-40d5-a07d-c208765d8640 d28213c6-eb6f-4348-aca4-6f384a3b6d71 g.chr15:23006728_23006729insG uc001yux.2 - 8 1188_1189 c.575_576insC c.(574-576)TCAfs p.S192fs NIPA2_uc001yuy.2_Frame_Shift_Ins_p.S192fs|NIPA2_uc001yuz.2_Frame_Shift_Ins_p.S192fs|NIPA2_uc001yva.2_Frame_Shift_Ins_p.S173fs|NIPA2_uc001yvb.2_Frame_Shift_Ins_p.S192fs|NIPA2_uc010ayb.2_Frame_Shift_Ins_p.S173fs NM_030922 NP_112184 Q8N8Q9 NIPA2_HUMAN non imprinted in Prader-Willi/Angelman syndrome 192 Helical; (Potential). early endosome|integral to membrane|plasma membrane haematopoietic_and_lymphoid_tissue(1) 1 all_cancers(20;2.26e-25)|all_epithelial(15;2.1e-22)|Lung NSC(15;3.36e-17)|all_lung(15;1.04e-16)|Breast(32;0.000776)|Colorectal(260;0.0488) all cancers(64;1.48e-06)|Epithelial(43;1.44e-05)|BRCA - Breast invasive adenocarcinoma(123;0.000353) CACAGGAGACTGAAAACGCGCC 0.52 NA 27 64 --- --- --- --- NA NA NA NA TP53 7157 broad.mit.edu 37 17 7579356 7579359 + Frame_Shift_Del DEL GACG GACG - rs11540654 TCGA-CV-6956-01A-21D-2012-08 TCGA-CV-6956-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 9ccee056-124e-40d5-a07d-c208765d8640 d28213c6-eb6f-4348-aca4-6f384a3b6d71 g.chr17:7579356_7579359delGACG uc002gim.2 - 4 522_525 c.328_331delCGTC c.(328-333)CGTCTGfs p.R110fs TP53_uc002gig.1_Frame_Shift_Del_p.R110fs|TP53_uc002gih.2_Frame_Shift_Del_p.R110fs|TP53_uc010cne.1_5'Flank|TP53_uc010cnf.1_5'Flank|TP53_uc010cng.1_5'Flank|TP53_uc002gii.1_5'Flank|TP53_uc010cnh.1_Frame_Shift_Del_p.R110fs|TP53_uc010cni.1_Frame_Shift_Del_p.R110fs|TP53_uc002gij.2_Frame_Shift_Del_p.R110fs|TP53_uc010cnj.1_5'Flank|TP53_uc002gin.2_Intron|TP53_uc002gio.2_Intron|TP53_uc010vug.1_Frame_Shift_Del_p.R71fs|TP53_uc010cnk.1_Frame_Shift_Del_p.R125fs NM_001126112 NP_001119584 P04637 P53_HUMAN tumor protein p53 isoform a 110_111 |Interaction with HIPK1 (By similarity). L -> Q (in sporadic cancers; somatic mutation).|L -> P (in sporadic cancers; somatic mutation).|L -> M (in a sporadic cancer; somatic mutation).|L -> R (in sporadic cancers; somatic mutation). activation of caspase activity by cytochrome c|base-excision repair|blood coagulation|cell cycle arrest|cell differentiation|cell proliferation|cellular protein localization|cellular response to drug|cellular response to glucose starvation|cellular response to hypoxia|cellular response to ionizing radiation|cellular response to UV|determination of adult lifespan|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|ER overload response|interspecies interaction between organisms|negative regulation of apoptosis|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of helicase activity|negative regulation of transcription from RNA polymerase II promoter|negative regulation of transcription from RNA polymerase II promoter|nucleotide-excision repair|oxidative stress-induced premature senescence|positive regulation of histone deacetylation|positive regulation of neuron apoptosis|positive regulation of peptidyl-tyrosine phosphorylation|positive regulation of reactive oxygen species metabolic process|positive regulation of thymocyte apoptosis|positive regulation of transcription from RNA polymerase II promoter|positive regulation of transcription from RNA polymerase II promoter|protein localization|protein tetramerization|Ras protein signal transduction|regulation of mitochondrial membrane permeability|replicative senescence|response to antibiotic|response to gamma radiation|response to X-ray cytoplasm|cytosol|endoplasmic reticulum|insoluble fraction|mitochondrion|nuclear chromatin|nuclear matrix|nucleolus|nucleus|PML body|protein complex|replication fork ATP binding|chaperone binding|chromatin binding|copper ion binding|damaged DNA binding|DNA strand annealing activity|histone acetyltransferase binding|p53 binding|protease binding|protein binding|protein heterodimerization activity|protein kinase binding|protein N-terminus binding|protein phosphatase 2A binding|RNA polymerase II transcription factor binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|transcription regulatory region DNA binding|transcription repressor activity|ubiquitin protein ligase binding|zinc ion binding p.R110L(24)|p.R110P(8)|p.0?(7)|p.R110fs*13(5)|p.R110C(4)|p.G59fs*23(3)|p.R110H(2)|p.F109_R110delFR(2)|p.Y107fs*38(1)|p.R110fs*18(1)|p.R110fs*39(1)|p.L111fs*10(1)|p.V73fs*9(1)|p.Y107fs*44(1)|p.L111M(1)|p.S33fs*23(1)|p.R110S(1)|p.Y103_G112>C(1)|p.P13fs*18(1)|p.Y103_L111>L(1)|p.F109_R110insXX(1)|p.G105_T125del21(1) large_intestine(4656)|breast(2429)|upper_aerodigestive_tract(2212)|lung(2028)|ovary(1592)|oesophagus(1462)|haematopoietic_and_lymphoid_tissue(1228)|stomach(1136)|urinary_tract(1114)|central_nervous_system(1085)|liver(805)|skin(694)|pancreas(375)|biliary_tract(247)|soft_tissue(209)|prostate(194)|endometrium(150)|bone(102)|vulva(79)|kidney(79)|cervix(68)|thyroid(54)|salivary_gland(43)|adrenal_gland(37)|peritoneum(33)|eye(24)|thymus(21)|genital_tract(16)|autonomic_ganglia(16)|small_intestine(14)|testis(11)|penis(10)|vagina(6)|meninges(5)|pituitary(4)|pleura(3)|gastrointestinal_tract_(site_indeterminate)(1)|NS(1)|Fallopian tube(1)|placenta(1) 22245 all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081) GBM - Glioblastoma multiforme(2;1.59e-06)|READ - Rectum adenocarcinoma(115;0.174) AAGAAGCCCAGACGGAAACCGTAG 0.613 111 Mis|N|F breast|colorectal|lung|sarcoma|adrenocortical|glioma|multiple other tumour types breast|sarcoma|adrenocortical carcinoma|glioma|multiple other tumour types Other_conserved_DNA_damage_response_genes Hereditary_Adrenocortical_Cancer|Endometrial_Cancer_Familial_Clustering_of|Hereditary_Breast-Ovarian_Cancer_non-BRCA1/2|Li-Fraumeni_syndrome|Osteosarcoma_Familial_Clustering_of HNSCC(1;<9.43e-08)|TCGA GBM(1;<1E-08)|TSP Lung(2;<1E-08)|TCGA Ovarian(1;<1.89e-07)|Multiple Myeloma(5;0.019) 47 34 --- --- --- --- NA NA NA NA LIMD2 80774 broad.mit.edu 37 17 61776623 61776623 + Frame_Shift_Del DEL G G - TCGA-CV-6956-01A-21D-2012-08 TCGA-CV-6956-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 9ccee056-124e-40d5-a07d-c208765d8640 d28213c6-eb6f-4348-aca4-6f384a3b6d71 g.chr17:61776623delG uc002jbj.3 - 2 214 c.36delC c.(34-36)CCCfs p.P12fs LIMD2_uc002jbk.3_5'UTR|LIMD2_uc002jbl.3_Frame_Shift_Del_p.P12fs NM_030576 NP_085053 Q9BT23 LIMD2_HUMAN LIM domain containing 2 12 zinc ion binding 0 TTACATGAGAGGGGGTGGCCT 0.682 NA 12 29 --- --- --- --- NA NA NA NA LENG9 94059 broad.mit.edu 37 19 54973750 54973750 + Frame_Shift_Del DEL T T - TCGA-CV-6956-01A-21D-2012-08 TCGA-CV-6956-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 9ccee056-124e-40d5-a07d-c208765d8640 d28213c6-eb6f-4348-aca4-6f384a3b6d71 g.chr19:54973750delT uc010yez.1 - 1 1145 c.1026delA c.(1024-1026)GAAfs p.E342fs NM_198988 NP_945339 Q96B70 LENG9_HUMAN leukocyte receptor cluster (LRC) member 9 342 RNA metabolic process intracellular catalytic activity|nucleic acid binding|zinc ion binding 0 Ovarian(34;0.19) GBM - Glioblastoma multiforme(193;0.134) GGACCAGGTATTCCTGGGCCT 0.632 NA 40 60 --- --- --- --- NA NA NA NA SYCP2 10388 broad.mit.edu 37 20 58444989 58444990 + Frame_Shift_Ins INS - - T TCGA-CV-6956-01A-21D-2012-08 TCGA-CV-6956-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 9ccee056-124e-40d5-a07d-c208765d8640 d28213c6-eb6f-4348-aca4-6f384a3b6d71 g.chr20:58444989_58444990insT uc002yaz.2 - 35 3743_3744 c.3604_3605insA c.(3604-3606)ATAfs p.I1202fs NM_014258 NP_055073 Q9BX26 SYCP2_HUMAN synaptonemal complex protein 2 1202 cell division|meiotic prophase I|synaptonemal complex assembly DNA binding ovary(3)|lung(2) 5 all_lung(29;0.00344) BRCA - Breast invasive adenocarcinoma(7;1.19e-09) CAGAGAACTTATTTTTTTTCTA 0.312 NA 8 37 --- --- --- --- NA NA NA NA TOP2B 7155 broad.mit.edu 37 3 25665146 25665146 + Frame_Shift_Del DEL T T - TCGA-CV-6956-01A-21D-2012-08 TCGA-CV-6956-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 9ccee056-124e-40d5-a07d-c208765d8640 d28213c6-eb6f-4348-aca4-6f384a3b6d71 g.chr3:25665146delT uc011awn.1 - 21 2630 c.2587delA c.(2587-2589)ATTfs p.I863fs TOP2B_uc003cdj.2_Frame_Shift_Del_p.I858fs NM_001068 NP_001059 Q02880 TOP2B_HUMAN DNA topoisomerase II, beta isozyme 863 DNA topological change|DNA-dependent DNA replication|mitotic cell cycle G2/M transition decatenation checkpoint|mitotic recombination|resolution of meiotic recombination intermediates|sister chromatid segregation cytosol|DNA topoisomerase complex (ATP-hydrolyzing)|nucleolus|nucleoplasm|synaptonemal complex|WINAC complex ATP binding|chromatin binding|DNA topoisomerase (ATP-hydrolyzing) activity|DNA-dependent ATPase activity|histone deacetylase binding|protein C-terminus binding|protein heterodimerization activity|protein kinase C binding|sequence-specific DNA binding transcription factor activity breast(2)|ovary(1)|lung(1)|skin(1) 5 ATTATAGGAATATACCACTCA 0.398 NA 12 18 --- --- --- --- NA NA NA NA DENND1A 57706 broad.mit.edu 37 9 126144077 126144077 + Frame_Shift_Del DEL G G - TCGA-CV-6956-01A-21D-2012-08 TCGA-CV-6956-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 9ccee056-124e-40d5-a07d-c208765d8640 d28213c6-eb6f-4348-aca4-6f384a3b6d71 g.chr9:126144077delG uc004bnz.1 - 22 2897 c.2664delC c.(2662-2664)TCCfs p.S888fs DENND1A_uc011lzl.1_Frame_Shift_Del_p.S706fs|DENND1A_uc004bny.1_Frame_Shift_Del_p.S670fs|DENND1A_uc011lzm.1_Frame_Shift_Del_p.S899fs|DENND1A_uc010mwh.1_Frame_Shift_Del_p.S309fs NM_020946 NP_065997 Q8TEH3 DEN1A_HUMAN DENN/MADD domain containing 1A isoform 1 888 Pro-rich. cell junction|clathrin coated vesicle membrane|presynaptic membrane guanyl-nucleotide exchange factor activity ovary(2) 2 TGGAGAGGGCGGAGAGGTTGG 0.682 NA 2 4 --- --- --- --- NA NA NA NA