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 CELA3A 10136 broad.mit.edu 37 1 22329534 22329534 + Missense_Mutation SNP C C T TCGA-BR-8369-01A-11D-2340-08 TCGA-BR-8369-10A-01D-2341-08 Untested Somatic Phase_I WXS none Illumina GAIIx 289a4096-4e30-4505-a60b-7c3a89da7ee6 acc4a8fb-74bb-4009-b4b7-23941bc1469a g.chr1:22329534C>T uc001bfl.2 + 2 101 c.82C>T c.(82-84)CGC>TGC p.R28C CELA3B_uc009vqf.2_Intron NM_005747 NP_005738 P09093 CEL3A_HUMAN elastase 3A, pancreatic preproprotein 28 cholesterol metabolic process|digestion|proteolysis serine-type endopeptidase activity haematopoietic_and_lymphoid_tissue(1) 1 CTCTTCCAGCCGCGTTGTCCA 0.572000 MACF1 23499 broad.mit.edu 37 1 39801222 39801222 + Missense_Mutation SNP A A G TCGA-BR-8369-01A-11D-2340-08 TCGA-BR-8369-10A-01D-2341-08 Untested Somatic Phase_I WXS none Illumina GAIIx 289a4096-4e30-4505-a60b-7c3a89da7ee6 acc4a8fb-74bb-4009-b4b7-23941bc1469a g.chr1:39801222A>G uc010oiu.1 + 1 4413 c.4282A>G c.(4282-4284)ACA>GCA p.T1428A MACF1_uc010ois.1_Intron|MACF1_uc001cda.1_Intron|MACF1_uc001cdc.1_Intron|MACF1_uc001cdb.1_Intron NM_033044 NP_149033 Q9UPN3 MACF1_HUMAN microfilament and actin filament cross-linker 2993 cell cycle arrest|Golgi to plasma membrane protein transport|positive regulation of Wnt receptor signaling pathway|regulation of epithelial cell migration|regulation of focal adhesion assembly|regulation of microtubule-based process|Wnt receptor signaling pathway|wound healing Golgi apparatus|microtubule|ruffle membrane actin filament binding|ATPase activity|calcium ion binding|microtubule binding ovary(8)|breast(3)|central_nervous_system(3)|skin(2) 16 Lung NSC(20;5.57e-06)|Ovarian(52;0.00769)|Acute lymphoblastic leukemia(166;0.074) Myeloproliferative disorder(586;0.0255) OV - Ovarian serous cystadenocarcinoma(33;7.78e-19)|Epithelial(16;1.73e-17)|all cancers(16;2.49e-16)|LUSC - Lung squamous cell carcinoma(16;0.00146)|Lung(16;0.00204) AAGTATCAGAACATGCAAACC 0.428000 C1orf175 374977 broad.mit.edu 37 1 55145625 55145625 + Missense_Mutation SNP G G A TCGA-BR-8369-01A-11D-2340-08 TCGA-BR-8369-10A-01D-2341-08 Untested Somatic Phase_I WXS none Illumina GAIIx 289a4096-4e30-4505-a60b-7c3a89da7ee6 acc4a8fb-74bb-4009-b4b7-23941bc1469a g.chr1:55145625G>A uc010ooe.1 + 13 2612 c.2288G>A c.(2287-2289)CGC>CAC p.R763H C1orf175_uc001cxq.2_RNA|C1orf175_uc010ooc.1_Missense_Mutation_p.R331H|C1orf175_uc001cxs.2_RNA|C1orf175_uc010ood.1_Missense_Mutation_p.R281H|C1orf175_uc010oof.1_Intron|C1orf175_uc001cxr.1_Intron|C1orf175_uc010oog.1_Missense_Mutation_p.R763H|C1orf175_uc010ooh.1_RNA|C1orf175_uc009vzq.1_RNA|C1orf175_uc001cxt.1_RNA|C1orf175_uc009vzr.1_5'Flank NM_001039464 NP_001034553 Q68CQ1 HEAT8_HUMAN hypothetical protein LOC374977 763 integral to membrane binding 0 CCTCGGGCCCGCCAGGTGGCC 0.637000 LRRC7 57554 broad.mit.edu 37 1 70587464 70587464 + Missense_Mutation SNP C C T TCGA-BR-8369-01A-11D-2340-08 TCGA-BR-8369-10A-01D-2341-08 Untested Somatic Phase_I WXS none Illumina GAIIx 289a4096-4e30-4505-a60b-7c3a89da7ee6 acc4a8fb-74bb-4009-b4b7-23941bc1469a g.chr1:70587464C>T uc001dep.2 + 25 4538 c.4508C>T c.(4507-4509)GCA>GTA p.A1503V LRRC7_uc009wbg.2_Missense_Mutation_p.A787V|LRRC7_uc001deq.2_Missense_Mutation_p.A697V NM_020794 NP_065845 Q96NW7 LRRC7_HUMAN leucine rich repeat containing 7 1503 PDZ. centrosome|focal adhesion|nucleolus protein binding ovary(9)|breast(2)|central_nervous_system(2)|liver(1) 14 TATTTACAGGCAAATGGACAC 0.348000 COL11A1 1301 broad.mit.edu 37 1 103343634 103343634 + Missense_Mutation SNP A A C TCGA-BR-8369-01A-11D-2340-08 TCGA-BR-8369-10A-01D-2341-08 Untested Somatic Phase_I WXS none Illumina GAIIx 289a4096-4e30-4505-a60b-7c3a89da7ee6 acc4a8fb-74bb-4009-b4b7-23941bc1469a g.chr1:103343634A>C uc001dul.2 - 67 5680 c.5362T>G c.(5362-5364)TTT>GTT p.F1788V COL11A1_uc001duk.2_Missense_Mutation_p.F984V|COL11A1_uc001dum.2_Missense_Mutation_p.F1800V|COL11A1_uc001dun.2_Missense_Mutation_p.F1749V|COL11A1_uc009weh.2_Missense_Mutation_p.F1672V NM_001854 NP_001845 P12107 COBA1_HUMAN alpha 1 type XI collagen isoform A 1788 Fibrillar collagen NC1. collagen fibril organization|detection of mechanical stimulus involved in sensory perception of sound|visual perception collagen type XI extracellular matrix binding|extracellular matrix structural constituent|protein binding, bridging ovary(6)|breast(3)|upper_aerodigestive_tract(1)|central_nervous_system(1)|pancreas(1) 12 all_epithelial(167;2.52e-07)|all_lung(203;3.11e-05)|Lung NSC(277;6.61e-05)|Breast(1374;0.181) Lung(183;0.186)|all cancers(265;0.242)|Epithelial(280;0.248) TGATCACCAAAGTCATTGATC 0.328000 KCNA3 3738 broad.mit.edu 37 1 111217049 111217049 + Missense_Mutation SNP G G A TCGA-BR-8369-01A-11D-2340-08 TCGA-BR-8369-10A-01D-2341-08 Untested Somatic Phase_I WXS none Illumina GAIIx 289a4096-4e30-4505-a60b-7c3a89da7ee6 acc4a8fb-74bb-4009-b4b7-23941bc1469a g.chr1:111217049G>A uc001dzv.1 - 1 607 c.383C>T c.(382-384)ACG>ATG p.T128M NM_002232 NP_002223 P22001 KCNA3_HUMAN potassium voltage-gated channel, shaker-related 128 voltage-gated potassium channel complex delayed rectifier potassium channel activity ovary(4)|pancreas(1) 5 all_cancers(81;3.92e-06)|all_epithelial(167;1.28e-05)|all_lung(203;0.000199)|Lung NSC(277;0.000398) Lung(183;0.0235)|Colorectal(144;0.0306)|all cancers(265;0.0752)|Epithelial(280;0.0821)|COAD - Colon adenocarcinoma(174;0.132)|LUSC - Lung squamous cell carcinoma(189;0.133) GCCCAGCAGCGTCTCGGGGAA 0.662000 ITGA10 8515 broad.mit.edu 37 1 145537443 145537443 + Missense_Mutation SNP G G A TCGA-BR-8369-01A-11D-2340-08 TCGA-BR-8369-10A-01D-2341-08 Untested Somatic Phase_I WXS none Illumina GAIIx 289a4096-4e30-4505-a60b-7c3a89da7ee6 acc4a8fb-74bb-4009-b4b7-23941bc1469a g.chr1:145537443G>A uc001eoa.2 + 20 2529 c.2453G>A c.(2452-2454)CGA>CAA p.R818Q NBPF10_uc001emp.3_Intron|ITGA10_uc010oyv.1_Missense_Mutation_p.R687Q|ITGA10_uc009wiw.2_Missense_Mutation_p.R675Q|ITGA10_uc010oyw.1_Missense_Mutation_p.R763Q NM_003637 NP_003628 O75578 ITA10_HUMAN integrin, alpha 10 precursor 818 Extracellular (Potential). cell-matrix adhesion|integrin-mediated signaling pathway integrin complex collagen binding|receptor activity lung(2)|ovary(2)|kidney(2)|large_intestine(1)|skin(1) 8 all_hematologic(18;0.0187)|Acute lymphoblastic leukemia(18;0.0786) TTTGTGGTTCGAGGTGGCCGG 0.488000 CD1A 909 broad.mit.edu 37 1 158227231 158227231 + Missense_Mutation SNP T T G TCGA-BR-8369-01A-11D-2340-08 TCGA-BR-8369-10A-01D-2341-08 Untested Somatic Phase_I WXS none Illumina GAIIx 289a4096-4e30-4505-a60b-7c3a89da7ee6 acc4a8fb-74bb-4009-b4b7-23941bc1469a g.chr1:158227231T>G uc001frt.2 + 5 1437 c.904T>G c.(904-906)TTC>GTC p.F302V NM_001763 NP_001754 P06126 CD1A_HUMAN CD1A antigen precursor 302 Helical; (Potential). antigen processing and presentation|immune response endosome membrane|integral to plasma membrane|MHC class I protein complex pancreas(2)|skin(1) 3 all_hematologic(112;0.0378) Antithymocyte globulin(DB00098) TTCCGTGGGCTTCATCATCTT 0.438000 OR10Z1 128368 broad.mit.edu 37 1 158576540 158576540 + Silent SNP T T C TCGA-BR-8369-01A-11D-2340-08 TCGA-BR-8369-10A-01D-2341-08 Untested Somatic Phase_I WXS none Illumina GAIIx 289a4096-4e30-4505-a60b-7c3a89da7ee6 acc4a8fb-74bb-4009-b4b7-23941bc1469a g.chr1:158576540T>C uc010pio.1 + 1 312 c.312T>C c.(310-312)TCT>TCC p.S104S NM_001004478 NP_001004478 Q8NGY1 O10Z1_HUMAN olfactory receptor, family 10, subfamily Z, 104 Helical; Name=3; (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity pancreas(1)|skin(1) 2 all_hematologic(112;0.0378) TGTTCTTTTCTGCCTCATGGG 0.552000 OR6K2 81448 broad.mit.edu 37 1 158670422 158670422 + Silent SNP G G T TCGA-BR-8369-01A-11D-2340-08 TCGA-BR-8369-10A-01D-2341-08 Untested Somatic Phase_I WXS none Illumina GAIIx 289a4096-4e30-4505-a60b-7c3a89da7ee6 acc4a8fb-74bb-4009-b4b7-23941bc1469a g.chr1:158670422G>T uc001fsu.1 - 1 21 c.21C>A c.(19-21)ACC>ACA p.T7T NM_001005279 NP_001005279 Q8NGY2 OR6K2_HUMAN olfactory receptor, family 6, subfamily K, 7 Extracellular (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity pancreas(1) 1 all_hematologic(112;0.0378) CCTGAATGGTGGTTCGATTGG 0.433000 DDR2 4921 broad.mit.edu 37 1 162725000 162725000 + Missense_Mutation SNP C C T TCGA-BR-8369-01A-11D-2340-08 TCGA-BR-8369-10A-01D-2341-08 Untested Somatic Phase_I WXS none Illumina GAIIx 289a4096-4e30-4505-a60b-7c3a89da7ee6 acc4a8fb-74bb-4009-b4b7-23941bc1469a g.chr1:162725000C>T uc001gcf.2 + 7 937 c.472C>T c.(472-474)CCC>TCC p.P158S DDR2_uc001gcg.2_Missense_Mutation_p.P158S NM_001014796 NP_001014796 Q16832 DDR2_HUMAN discoidin domain receptor family, member 2 158 Extracellular (Potential).|F5/8 type C. cell adhesion integral to plasma membrane ATP binding|transmembrane receptor protein tyrosine kinase activity lung(2)|central_nervous_system(2)|ovary(1)|kidney(1) 6 all_hematologic(112;0.115) BRCA - Breast invasive adenocarcinoma(70;0.113) CTTGGAGCCGCCCATTGTAGC 0.478000 F5 2153 broad.mit.edu 37 1 169510379 169510379 + Missense_Mutation SNP C C T rs149048805 TCGA-BR-8369-01A-11D-2340-08 TCGA-BR-8369-10A-01D-2341-08 Untested Somatic Phase_I WXS none Illumina GAIIx 289a4096-4e30-4505-a60b-7c3a89da7ee6 acc4a8fb-74bb-4009-b4b7-23941bc1469a g.chr1:169510379C>T uc001ggg.1 - 13 4094 c.3949G>A c.(3949-3951)GGT>AGT p.G1317S NM_000130 NP_000121 P12259 FA5_HUMAN coagulation factor V precursor 1317 B.|2-15.|35 X 9 AA approximate tandem repeats of [TNP]-L-S-P-D-L-S-Q-T. cell adhesion|platelet activation|platelet degranulation plasma membrane|platelet alpha granule lumen copper ion binding|oxidoreductase activity ovary(3)|large_intestine(1)|central_nervous_system(1)|skin(1) 6 all_hematologic(923;0.208) Drotrecogin alfa(DB00055) GGCATCTGACCGAGGGCTGGG 0.498000 TNR 7143 broad.mit.edu 37 1 175325573 175325573 + Silent SNP G G A TCGA-BR-8369-01A-11D-2340-08 TCGA-BR-8369-10A-01D-2341-08 Untested Somatic Phase_I WXS none Illumina GAIIx 289a4096-4e30-4505-a60b-7c3a89da7ee6 acc4a8fb-74bb-4009-b4b7-23941bc1469a g.chr1:175325573G>A uc001gkp.1 - 14 3081 c.3000C>T c.(2998-3000)GAC>GAT p.D1000D TNR_uc009wwu.1_Silent_p.D1000D NM_003285 NP_003276 Q92752 TENR_HUMAN tenascin R precursor 1000 Fibronectin type-III 8. axon guidance|cell adhesion|signal transduction proteinaceous extracellular matrix pancreas(5)|ovary(4)|central_nervous_system(1)|skin(1) 11 Renal(580;0.146) CACTGACTCCGTCAACAAGGA 0.463000 KIAA1614 57710 broad.mit.edu 37 1 180886990 180886990 + Missense_Mutation SNP G G A TCGA-BR-8369-01A-11D-2340-08 TCGA-BR-8369-10A-01D-2341-08 Untested Somatic Phase_I WXS none Illumina GAIIx 289a4096-4e30-4505-a60b-7c3a89da7ee6 acc4a8fb-74bb-4009-b4b7-23941bc1469a g.chr1:180886990G>A uc001gok.2 + 3 1068 c.1001G>A c.(1000-1002)CGA>CAA p.R334Q NM_020950 NP_066001 Q5VZ46 K1614_HUMAN hypothetical protein LOC57710 334 ovary(3)|skin(1) 4 ATCCTAGAGCGACCAGTGGGG 0.567000 F13B 2165 broad.mit.edu 37 1 197026303 197026303 + Missense_Mutation SNP C C A TCGA-BR-8369-01A-11D-2340-08 TCGA-BR-8369-10A-01D-2341-08 Untested Somatic Phase_I WXS none Illumina GAIIx 289a4096-4e30-4505-a60b-7c3a89da7ee6 acc4a8fb-74bb-4009-b4b7-23941bc1469a g.chr1:197026303C>A uc001gtt.1 - 7 1055 c.1011G>T c.(1009-1011)GAG>GAT p.E337D NM_001994 NP_001985 P05160 F13B_HUMAN coagulation factor XIII B subunit precursor 337 Sushi 6. blood coagulation extracellular region upper_aerodigestive_tract(1)|central_nervous_system(1)|skin(1) 3 AGGGTGGTTCCTCACAGGCTA 0.398000 FAM58B 339521 broad.mit.edu 37 1 200183190 200183190 + Missense_Mutation SNP C C T TCGA-BR-8369-01A-11D-2340-08 TCGA-BR-8369-10A-01D-2341-08 Untested Somatic Phase_I WXS none Illumina GAIIx 289a4096-4e30-4505-a60b-7c3a89da7ee6 acc4a8fb-74bb-4009-b4b7-23941bc1469a g.chr1:200183190C>T uc009wzi.1 + 1 535 c.499C>T c.(499-501)CGG>TGG p.R167W NM_001105517 NP_001098987 P0C7Q3 FA58B_HUMAN family with sequence similarity 58 member B 167 regulation of cyclin-dependent protein kinase activity|regulation of transcription, DNA-dependent protein kinase binding 0 Prostate(682;0.19) CAGCTGGCAGCGGACCCCCGT 0.627000 CACNA1S 779 broad.mit.edu 37 1 201017715 201017715 + Missense_Mutation SNP G G A TCGA-BR-8369-01A-11D-2340-08 TCGA-BR-8369-10A-01D-2341-08 Untested Somatic Phase_I WXS none Illumina GAIIx 289a4096-4e30-4505-a60b-7c3a89da7ee6 acc4a8fb-74bb-4009-b4b7-23941bc1469a g.chr1:201017715G>A uc001gvv.2 - 36 4663 c.4436C>T c.(4435-4437)ACG>ATG p.T1479M NM_000069 NP_000060 Q13698 CAC1S_HUMAN calcium channel, voltage-dependent, L type, 1479 Cytoplasmic (Potential). axon guidance I band|T-tubule|voltage-gated calcium channel complex high voltage-gated calcium channel activity ovary(3)|central_nervous_system(1)|skin(1) 5 Magnesium Sulfate(DB00653)|Verapamil(DB00661) CTCACCTTCCGTCTTGATCTT 0.557000 TNNI1 7135 broad.mit.edu 37 1 201382217 201382217 + Missense_Mutation SNP C C A TCGA-BR-8369-01A-11D-2340-08 TCGA-BR-8369-10A-01D-2341-08 Untested Somatic Phase_I WXS none Illumina GAIIx 289a4096-4e30-4505-a60b-7c3a89da7ee6 acc4a8fb-74bb-4009-b4b7-23941bc1469a g.chr1:201382217C>A uc010ppq.1 - 6 315 c.222G>T c.(220-222)GAG>GAT p.E74D TNNI1_uc001gwo.1_RNA|TNNI1_uc001gwp.2_Missense_Mutation_p.E53D NM_003281 NP_003272 P19237 TNNI1_HUMAN troponin I, skeletal, slow 74 muscle filament sliding|regulation of striated muscle contraction cytosol|troponin complex actin binding|tropomyosin binding 0 CATCCACCACCTCCACCTTGG 0.582000 NAV1 89796 broad.mit.edu 37 1 201786280 201786280 + Missense_Mutation SNP C C T TCGA-BR-8369-01A-11D-2340-08 TCGA-BR-8369-10A-01D-2341-08 Untested Somatic Phase_I WXS none Illumina GAIIx 289a4096-4e30-4505-a60b-7c3a89da7ee6 acc4a8fb-74bb-4009-b4b7-23941bc1469a g.chr1:201786280C>T uc001gwu.2 + 28 5743 c.5396C>T c.(5395-5397)CCA>CTA p.P1799L NAV1_uc001gwx.2_Missense_Mutation_p.P1408L NM_020443 NP_065176 Q8NEY1 NAV1_HUMAN neuron navigator 1 1802 cell differentiation|nervous system development cytoplasm|microtubule nucleoside-triphosphatase activity|nucleotide binding central_nervous_system(3)|ovary(1) 4 CTTCCCTGGCCATCAGCCCAA 0.557000 NFASC 23114 broad.mit.edu 37 1 204978710 204978710 + Silent SNP C C T TCGA-BR-8369-01A-11D-2340-08 TCGA-BR-8369-10A-01D-2341-08 Untested Somatic Phase_I WXS none Illumina GAIIx 289a4096-4e30-4505-a60b-7c3a89da7ee6 acc4a8fb-74bb-4009-b4b7-23941bc1469a g.chr1:204978710C>T uc001hbj.2 + 28 3643 c.3315C>T c.(3313-3315)ATC>ATT p.I1105I NFASC_uc010pra.1_Silent_p.I1039I|NFASC_uc001hbi.2_Silent_p.I1034I|NFASC_uc010prb.1_Silent_p.I1054I|NFASC_uc010prc.1_Silent_p.I605I|NFASC_uc001hbl.1_Silent_p.I181I|NFASC_uc001hbm.1_Silent_p.I128I|NFASC_uc009xbh.1_5'UTR NM_001005388 NP_001005388 O94856 NFASC_HUMAN neurofascin isoform 1 precursor 1212 Extracellular (Potential). axon guidance|cell adhesion|myelination|peripheral nervous system development integral to membrane|node of Ranvier|plasma membrane protein binding ovary(3)|breast(1)|central_nervous_system(1)|skin(1) 6 all_cancers(21;0.0375)|Breast(84;0.0437)|all_epithelial(62;0.171)|Prostate(682;0.19) KIRC - Kidney renal clear cell carcinoma(13;0.0584)|Kidney(21;0.0934)|BRCA - Breast invasive adenocarcinoma(75;0.158) AAGCGGACATCGCCACCCAGG 0.587000 ANGEL2 90806 broad.mit.edu 37 1 213181648 213181648 + Silent SNP A A G TCGA-BR-8369-01A-11D-2340-08 TCGA-BR-8369-10A-01D-2341-08 Untested Somatic Phase_I WXS none Illumina GAIIx 289a4096-4e30-4505-a60b-7c3a89da7ee6 acc4a8fb-74bb-4009-b4b7-23941bc1469a g.chr1:213181648A>G uc001hjz.2 - 3 701 c.546T>C c.(544-546)GAT>GAC p.D182D ANGEL2_uc010pto.1_Silent_p.D56D|ANGEL2_uc010ptp.1_Silent_p.D56D|ANGEL2_uc001hka.2_Silent_p.D13D|ANGEL2_uc010ptq.1_RNA|ANGEL2_uc001hkb.2_Silent_p.D160D NM_144567 NP_653168 Q5VTE6 ANGE2_HUMAN LOC90806 protein 182 0 OV - Ovarian serous cystadenocarcinoma(81;0.00446)|all cancers(67;0.0169)|Epithelial(68;0.0921)|GBM - Glioblastoma multiforme(131;0.185) GGTGAGAGTTATCTTCCAGTA 0.358000 RYR2 6262 broad.mit.edu 37 1 237604732 237604732 + Silent SNP T T C TCGA-BR-8369-01A-11D-2340-08 TCGA-BR-8369-10A-01D-2341-08 Untested Somatic Phase_I WXS none Illumina GAIIx 289a4096-4e30-4505-a60b-7c3a89da7ee6 acc4a8fb-74bb-4009-b4b7-23941bc1469a g.chr1:237604732T>C uc001hyl.1 + 13 1239 c.1119T>C c.(1117-1119)ACT>ACC p.T373T NM_001035 NP_001026 Q92736 RYR2_HUMAN cardiac muscle ryanodine receptor 373 Cytoplasmic (By similarity).|MIR 5. 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) TATGGCTTACTTACCAGTCTG 0.363000 PRKCQ 5588 broad.mit.edu 37 10 6557055 6557055 + Missense_Mutation SNP C C T TCGA-BR-8369-01A-11D-2340-08 TCGA-BR-8369-10A-01D-2341-08 Untested Somatic Phase_I WXS none Illumina GAIIx 289a4096-4e30-4505-a60b-7c3a89da7ee6 acc4a8fb-74bb-4009-b4b7-23941bc1469a g.chr10:6557055C>T uc001ijj.1 - 2 118 c.43G>A c.(43-45)GGG>AGG p.G15R PRKCQ_uc009xim.1_Missense_Mutation_p.G15R|PRKCQ_uc001iji.1_Missense_Mutation_p.G48R|PRKCQ_uc009xin.1_5'UTR|PRKCQ_uc010qax.1_5'UTR NM_006257 NP_006248 Q04759 KPCT_HUMAN protein kinase C, theta 15 C2. axon guidance|cellular component disassembly involved in apoptosis|intracellular signal transduction|membrane protein ectodomain proteolysis|platelet activation|regulation of cell growth|T cell receptor signaling pathway cytosol ATP binding|metal ion binding|protein binding|protein kinase C activity ovary(3)|lung(2)|large_intestine(1) 6 TGGCAGGACCCGCAGTCAAAG 0.483000 NEBL 10529 broad.mit.edu 37 10 21124467 21124467 + Missense_Mutation SNP T T C TCGA-BR-8369-01A-11D-2340-08 TCGA-BR-8369-10A-01D-2341-08 Untested Somatic Phase_I WXS none Illumina GAIIx 289a4096-4e30-4505-a60b-7c3a89da7ee6 acc4a8fb-74bb-4009-b4b7-23941bc1469a g.chr10:21124467T>C uc001iqi.2 - 14 1821 c.1424A>G c.(1423-1425)AAG>AGG p.K475R NEBL_uc001iqj.2_RNA|NEBL_uc001iqk.2_Intron|NEBL_uc001iql.1_RNA NM_006393 NP_006384 O76041 NEBL_HUMAN nebulette sarcomeric isoform 475 Nebulin 13. regulation of actin filament length actin binding|structural constituent of muscle ovary(2) 2 TGCAGCCTTCTTGGCATGCTG 0.428000 MYO3A 53904 broad.mit.edu 37 10 26457648 26457648 + Missense_Mutation SNP T T G TCGA-BR-8369-01A-11D-2340-08 TCGA-BR-8369-10A-01D-2341-08 Untested Somatic Phase_I WXS none Illumina GAIIx 289a4096-4e30-4505-a60b-7c3a89da7ee6 acc4a8fb-74bb-4009-b4b7-23941bc1469a g.chr10:26457648T>G uc001isn.2 + 28 3479 c.3119T>G c.(3118-3120)CTT>CGT p.L1040R MYO3A_uc009xkp.1_RNA|MYO3A_uc009xkq.1_Intron NM_017433 NP_059129 Q8NEV4 MYO3A_HUMAN myosin IIIA 1040 Myosin head-like. protein autophosphorylation|response to stimulus|sensory perception of sound|visual perception cytoplasm|filamentous actin|filopodium|myosin complex actin binding|actin-dependent ATPase activity|ADP binding|ATP binding|calmodulin binding|plus-end directed microfilament motor activity|protein serine/threonine kinase activity ovary(6)|stomach(3)|lung(3)|central_nervous_system(2)|breast(1)|skin(1)|kidney(1)|pancreas(1) 18 CAGGTGTTCCTTAAGTATTAT 0.353000 ARMC4 55130 broad.mit.edu 37 10 28270418 28270418 + Missense_Mutation SNP A A C TCGA-BR-8369-01A-11D-2340-08 TCGA-BR-8369-10A-01D-2341-08 Untested Somatic Phase_I WXS none Illumina GAIIx 289a4096-4e30-4505-a60b-7c3a89da7ee6 acc4a8fb-74bb-4009-b4b7-23941bc1469a g.chr10:28270418A>C uc009xky.2 - 7 1011 c.913T>G c.(913-915)TTT>GTT p.F305V ARMC4_uc010qds.1_5'UTR|ARMC4_uc010qdt.1_5'UTR|ARMC4_uc001itz.2_Missense_Mutation_p.F305V|ARMC4_uc010qdu.1_5'UTR NM_018076 NP_060546 Q5T2S8 ARMC4_HUMAN armadillo repeat containing 4 305 binding ovary(4)|skin(2) 6 TTTTCTGAAAATTTTGGTGAT 0.299000 MPP7 143098 broad.mit.edu 37 10 28347474 28347474 + Missense_Mutation SNP G G A rs35450618 TCGA-BR-8369-01A-11D-2340-08 TCGA-BR-8369-10A-01D-2341-08 Untested Somatic Phase_I WXS none Illumina GAIIx 289a4096-4e30-4505-a60b-7c3a89da7ee6 acc4a8fb-74bb-4009-b4b7-23941bc1469a g.chr10:28347474G>A uc001iua.1 - 17 1761 c.1357C>T c.(1357-1359)CGG>TGG p.R453W MPP7_uc009xkz.1_RNA|MPP7_uc001iub.1_Missense_Mutation_p.R453W|MPP7_uc009xla.2_Missense_Mutation_p.R453W|MPP7_uc010qdv.1_RNA NM_173496 NP_775767 Q5T2T1 MPP7_HUMAN palmitoylated membrane protein 7 453 Guanylate kinase-like. establishment of cell polarity|positive regulation of protein complex assembly|protein localization to adherens junction|tight junction assembly MPP7-DLG1-LIN7 complex|tight junction protein complex scaffold|protein domain specific binding|protein heterodimerization activity|signaling adaptor activity ovary(1) 1 AGGACAGACCGAACTGAGTCT 0.333000 OR13A1 79290 broad.mit.edu 37 10 45799057 45799057 + Missense_Mutation SNP C C T TCGA-BR-8369-01A-11D-2340-08 TCGA-BR-8369-10A-01D-2341-08 Untested Somatic Phase_I WXS none Illumina GAIIx 289a4096-4e30-4505-a60b-7c3a89da7ee6 acc4a8fb-74bb-4009-b4b7-23941bc1469a g.chr10:45799057C>T uc001jcc.1 - 4 1123 c.814G>A c.(814-816)GCT>ACT p.A272T OR13A1_uc001jcd.1_Missense_Mutation_p.A268T NM_001004297 NP_001004297 Q8NGR1 O13A1_HUMAN olfactory receptor, family 13, subfamily A, 272 Helical; Name=6; (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity 0 TAGAAGACAGCGGTGTAATAC 0.577000 BICC1 80114 broad.mit.edu 37 10 60273052 60273052 + Missense_Mutation SNP G G A TCGA-BR-8369-01A-11D-2340-08 TCGA-BR-8369-10A-01D-2341-08 Untested Somatic Phase_I WXS none Illumina GAIIx 289a4096-4e30-4505-a60b-7c3a89da7ee6 acc4a8fb-74bb-4009-b4b7-23941bc1469a g.chr10:60273052G>A uc001jki.1 + 1 149 c.149G>A c.(148-150)CGC>CAC p.R50H NM_001080512 NP_001073981 Q9H694 BICC1_HUMAN bicaudal C homolog 1 50 multicellular organismal development RNA binding ovary(2)|lung(1)|skin(1) 4 AGCGAGGAGCGCTTCCGCGTG 0.632000 BICC1 80114 broad.mit.edu 37 10 60556253 60556253 + Missense_Mutation SNP T T G TCGA-BR-8369-01A-11D-2340-08 TCGA-BR-8369-10A-01D-2341-08 Untested Somatic Phase_I WXS none Illumina GAIIx 289a4096-4e30-4505-a60b-7c3a89da7ee6 acc4a8fb-74bb-4009-b4b7-23941bc1469a g.chr10:60556253T>G uc001jki.1 + 10 1333 c.1333T>G c.(1333-1335)TTA>GTA p.L445V BICC1_uc001jkj.1_Missense_Mutation_p.L86V NM_001080512 NP_001073981 Q9H694 BICC1_HUMAN bicaudal C homolog 1 445 multicellular organismal development RNA binding ovary(2)|lung(1)|skin(1) 4 CCTGGATATCTTAGCTTCAGC 0.517000 FAM13C 220965 broad.mit.edu 37 10 61011428 61011428 + Missense_Mutation SNP A A C TCGA-BR-8369-01A-11D-2340-08 TCGA-BR-8369-10A-01D-2341-08 Untested Somatic Phase_I WXS none Illumina GAIIx 289a4096-4e30-4505-a60b-7c3a89da7ee6 acc4a8fb-74bb-4009-b4b7-23941bc1469a g.chr10:61011428A>C uc001jkn.2 - 14 1675 c.1541T>G c.(1540-1542)CTT>CGT p.L514R FAM13C_uc001jko.2_Missense_Mutation_p.L416R|FAM13C_uc010qid.1_Missense_Mutation_p.L430R|FAM13C_uc010qie.1_Missense_Mutation_p.L431R|FAM13C_uc010qif.1_Missense_Mutation_p.L536R NM_198215 NP_937858 Q8NE31 FA13C_HUMAN hypothetical protein LOC220965 isoform 1 514 ovary(2) 2 ATGGTCAAGAAGTACAGGCCT 0.393000 PLCE1 51196 broad.mit.edu 37 10 96030337 96030337 + Missense_Mutation SNP G G A TCGA-BR-8369-01A-11D-2340-08 TCGA-BR-8369-10A-01D-2341-08 Untested Somatic Phase_I WXS none Illumina GAIIx 289a4096-4e30-4505-a60b-7c3a89da7ee6 acc4a8fb-74bb-4009-b4b7-23941bc1469a g.chr10:96030337G>A uc001kjk.2 + 18 5118 c.4484G>A c.(4483-4485)CGA>CAA p.R1495Q PLCE1_uc010qnx.1_Missense_Mutation_p.R1479Q|PLCE1_uc001kjm.2_Missense_Mutation_p.R1187Q NM_016341 NP_057425 Q9P212 PLCE1_HUMAN phospholipase C, epsilon 1 isoform 1 1495 PI-PLC X-box. activation of MAPK activity|activation of phospholipase C activity by G-protein coupled receptor protein signaling pathway coupled to IP3 second messenger|activation of protein kinase C activity by G-protein coupled receptor protein signaling pathway|calcium-mediated signaling|cell proliferation|cytoskeleton organization|diacylglycerol biosynthetic process|elevation of cytosolic calcium ion concentration|epidermal growth factor receptor signaling pathway|glomerulus development|heart development|lipid catabolic process|Ras protein signal transduction|regulation of cell growth|regulation of G-protein coupled receptor protein signaling pathway|regulation of Ras protein signal transduction|regulation of smooth muscle contraction cytosol|Golgi membrane|membrane fraction|plasma membrane calcium ion binding|guanyl-nucleotide exchange factor activity|phosphatidylinositol phospholipase C activity|Ras GTPase binding|receptor signaling protein activity ovary(2)|skin(1) 3 Colorectal(252;0.0458) CCTCAGCAACGAAAAATGGCA 0.403000 UBQLNL 143630 broad.mit.edu 37 11 5537169 5537169 + Missense_Mutation SNP T T C TCGA-BR-8369-01A-11D-2340-08 TCGA-BR-8369-10A-01D-2341-08 Untested Somatic Phase_I WXS none Illumina GAIIx 289a4096-4e30-4505-a60b-7c3a89da7ee6 acc4a8fb-74bb-4009-b4b7-23941bc1469a g.chr11:5537169T>C uc001maz.3 - 1 788 c.503A>G c.(502-504)CAC>CGC p.H168R HBG2_uc001mak.1_Intron NM_145053 NP_659490 Q8IYU4 UBQLN_HUMAN ubiquilin-like 168 large_intestine(2)|skin(1) 3 Medulloblastoma(188;0.00225)|Breast(177;0.0155)|all_neural(188;0.0212) Epithelial(150;1.92e-09)|BRCA - Breast invasive adenocarcinoma(625;0.136) GCACTCTGGGTGGCTCACTTC 0.507000 APBB1 322 broad.mit.edu 37 11 6432344 6432344 + Silent SNP C C T TCGA-BR-8369-01A-11D-2340-08 TCGA-BR-8369-10A-01D-2341-08 Untested Somatic Phase_I WXS none Illumina GAIIx 289a4096-4e30-4505-a60b-7c3a89da7ee6 acc4a8fb-74bb-4009-b4b7-23941bc1469a g.chr11:6432344C>T uc001mdb.1 - 2 334 c.234G>A c.(232-234)CGG>CGA p.R78R APBB1_uc001mdc.1_Silent_p.R78R|APBB1_uc010rah.1_Intron NM_001164 NP_001155 O00213 APBB1_HUMAN amyloid beta A4 precursor protein-binding, 78 apoptosis|axonogenesis|cell cycle arrest|histone H4 acetylation|negative regulation of cell growth|negative regulation of S phase of mitotic cell cycle|negative regulation of thymidylate synthase biosynthetic process|positive regulation of apoptosis|positive regulation of transcription, DNA-dependent|response to DNA damage stimulus|signal transduction|transcription, DNA-dependent cytoplasm|growth cone|lamellipodium|nucleus|plasma membrane|synapse beta-amyloid binding|chromatin binding|histone binding|proline-rich region binding|transcription factor binding breast(2) 2 Medulloblastoma(188;0.00263)|all_neural(188;0.026)|Breast(177;0.029) Epithelial(150;6.49e-08)|BRCA - Breast invasive adenocarcinoma(625;0.194) TGGCGGCCCGCCGGAGCTGGT 0.672000 OR10A4 283297 broad.mit.edu 37 11 6898769 6898769 + Missense_Mutation SNP A A T TCGA-BR-8369-01A-11D-2340-08 TCGA-BR-8369-10A-01D-2341-08 Untested Somatic Phase_I WXS none Illumina GAIIx 289a4096-4e30-4505-a60b-7c3a89da7ee6 acc4a8fb-74bb-4009-b4b7-23941bc1469a g.chr11:6898769A>T uc010rat.1 + 1 891 c.891A>T c.(889-891)GAA>GAT p.E297D NM_207186 NP_997069 Q9H209 O10A4_HUMAN olfactory receptor, family 10, subfamily A, 297 Cytoplasmic (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity ovary(1) 1 Medulloblastoma(188;0.0523)|all_neural(188;0.236) Epithelial(150;4.78e-08)|BRCA - Breast invasive adenocarcinoma(625;0.129) GGAATAAAGAAGTGAAGGCTG 0.478000 ZNF215 7762 broad.mit.edu 37 11 6977489 6977489 + Silent SNP A A G TCGA-BR-8369-01A-11D-2340-08 TCGA-BR-8369-10A-01D-2341-08 Untested Somatic Phase_I WXS none Illumina GAIIx 289a4096-4e30-4505-a60b-7c3a89da7ee6 acc4a8fb-74bb-4009-b4b7-23941bc1469a g.chr11:6977489A>G uc001mey.2 + 7 1869 c.1281A>G c.(1279-1281)AAA>AAG p.K427K ZNF215_uc010raw.1_3'UTR|ZNF215_uc010rax.1_Silent_p.K189K|ZNF215_uc001mez.1_Intron NM_013250 NP_037382 Q9UL58 ZN215_HUMAN zinc finger protein 215 427 C2H2-type 2. viral reproduction nucleus DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding 0 Epithelial(150;6.33e-08)|BRCA - Breast invasive adenocarcinoma(625;0.134) AGCATCAAAAACTTCATGCTG 0.388000 SPON1 10418 broad.mit.edu 37 11 14282168 14282168 + Missense_Mutation SNP G G C TCGA-BR-8369-01A-11D-2340-08 TCGA-BR-8369-10A-01D-2341-08 Untested Somatic Phase_I WXS none Illumina GAIIx 289a4096-4e30-4505-a60b-7c3a89da7ee6 acc4a8fb-74bb-4009-b4b7-23941bc1469a g.chr11:14282168G>C uc001mle.2 + 15 2404 c.1866G>C c.(1864-1866)GAG>GAC p.E622D NM_006108 NP_006099 Q9HCB6 SPON1_HUMAN spondin 1, extracellular matrix protein 622 TSP type-1 4. cell adhesion extracellular space|proteinaceous extracellular matrix protein binding 0 Epithelial(150;0.00898) CATGGTCCGAGTGGAGTGACT 0.552000 ANO5 203859 broad.mit.edu 37 11 22291880 22291880 + Missense_Mutation SNP C C T TCGA-BR-8369-01A-11D-2340-08 TCGA-BR-8369-10A-01D-2341-08 Untested Somatic Phase_I WXS none Illumina GAIIx 289a4096-4e30-4505-a60b-7c3a89da7ee6 acc4a8fb-74bb-4009-b4b7-23941bc1469a g.chr11:22291880C>T uc001mqi.2 + 18 2238 c.1921C>T c.(1921-1923)CGC>TGC p.R641C ANO5_uc001mqj.2_Missense_Mutation_p.R640C NM_213599 NP_998764 Q75V66 ANO5_HUMAN anoctamin 5 isoform a 641 Extracellular (Potential). chloride channel complex|endoplasmic reticulum membrane chloride channel activity central_nervous_system(3)|ovary(1) 4 TTGGTGGAGACGCCGAAAAGC 0.423000 RAG1 5896 broad.mit.edu 37 11 36597271 36597271 + Missense_Mutation SNP A A G TCGA-BR-8369-01A-11D-2340-08 TCGA-BR-8369-10A-01D-2341-08 Untested Somatic Phase_I WXS none Illumina GAIIx 289a4096-4e30-4505-a60b-7c3a89da7ee6 acc4a8fb-74bb-4009-b4b7-23941bc1469a g.chr11:36597271A>G uc001mwu.3 + 2 2541 c.2417A>G c.(2416-2418)GAG>GGG p.E806G RAG1_uc001mwt.2_RNA NM_000448 NP_000439 P15918 RAG1_HUMAN recombination activating gene 1 806 histone monoubiquitination|immune response|pre-B cell allelic exclusion|protein autoubiquitination|T cell differentiation in thymus|V(D)J recombination nucleus endonuclease activity|histone binding|protein homodimerization activity|sequence-specific DNA binding|ubiquitin-protein ligase activity|zinc ion binding ovary(1)|pancreas(1)|lung(1)|kidney(1)|skin(1) 5 all_lung(20;0.226) all_hematologic(20;0.107) AATGCAGCTGAGTTCTACAAG 0.483000 Familial_Hemophagocytic_Lymphohistiocytosis LRRC4C 57689 broad.mit.edu 37 11 40137656 40137656 + Missense_Mutation SNP C C A TCGA-BR-8369-01A-11D-2340-08 TCGA-BR-8369-10A-01D-2341-08 Untested Somatic Phase_I WXS none Illumina GAIIx 289a4096-4e30-4505-a60b-7c3a89da7ee6 acc4a8fb-74bb-4009-b4b7-23941bc1469a g.chr11:40137656C>A uc001mxa.1 - 2 2151 c.187G>T c.(187-189)GTT>TTT p.V63F LRRC4C_uc001mxc.1_Missense_Mutation_p.V59F|LRRC4C_uc001mxd.1_Missense_Mutation_p.V59F|LRRC4C_uc001mxb.1_Missense_Mutation_p.V59F NM_020929 NP_065980 Q9HCJ2 LRC4C_HUMAN netrin-G1 ligand precursor 63 LRRNT. regulation of axonogenesis integral to membrane protein binding ovary(4)|skin(3)|central_nervous_system(1) 8 all_lung(304;0.0575)|Lung NSC(402;0.138) TTTTTCCGAACACAAATCACC 0.537000 PHF21A 51317 broad.mit.edu 37 11 45970446 45970446 + Missense_Mutation SNP G G A TCGA-BR-8369-01A-11D-2340-08 TCGA-BR-8369-10A-01D-2341-08 Untested Somatic Phase_I WXS none Illumina GAIIx 289a4096-4e30-4505-a60b-7c3a89da7ee6 acc4a8fb-74bb-4009-b4b7-23941bc1469a g.chr11:45970446G>A uc001ncc.3 - 13 1900 c.1276C>T c.(1276-1278)CGG>TGG p.R426W PHF21A_uc001ncb.3_Missense_Mutation_p.R427W|PHF21A_uc009ykx.2_Missense_Mutation_p.R427W|PHF21A_uc001nce.2_Missense_Mutation_p.R427W|PHF21A_uc001nca.1_Missense_Mutation_p.R162W NM_001101802 NP_001095272 Q96BD5 PF21A_HUMAN BRAF35/HDAC2 complex isoform a 426 A.T hook. blood coagulation|chromatin modification|negative regulation of transcription from RNA polymerase II promoter|regulation of transcription, DNA-dependent|transcription, DNA-dependent histone deacetylase complex DNA binding|zinc ion binding central_nervous_system(1)|skin(1) 2 CCTCTCTTCCGGGTCCCAGGG 0.473000 OR4C12 283093 broad.mit.edu 37 11 50003778 50003778 + Missense_Mutation SNP T T G TCGA-BR-8369-01A-11D-2340-08 TCGA-BR-8369-10A-01D-2341-08 Untested Somatic Phase_I WXS none Illumina GAIIx 289a4096-4e30-4505-a60b-7c3a89da7ee6 acc4a8fb-74bb-4009-b4b7-23941bc1469a g.chr11:50003778T>G uc010ria.1 - 1 260 c.260A>C c.(259-261)AAG>ACG p.K87T NM_001005270 NP_001005270 Q96R67 OR4CC_HUMAN olfactory receptor, family 4, subfamily C, 87 Extracellular (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity ovary(2)|skin(1) 3 GATGATTTTCTTCTCTTGAAA 0.438000 OR4C15 81309 broad.mit.edu 37 11 55321970 55321970 + Missense_Mutation SNP A A C TCGA-BR-8369-01A-11D-2340-08 TCGA-BR-8369-10A-01D-2341-08 Untested Somatic Phase_I WXS none Illumina GAIIx 289a4096-4e30-4505-a60b-7c3a89da7ee6 acc4a8fb-74bb-4009-b4b7-23941bc1469a g.chr11:55321970A>C uc010rig.1 + 1 188 c.188A>C c.(187-189)GAG>GCG p.E63A NM_001001920 NP_001001920 Q8NGM1 OR4CF_HUMAN olfactory receptor, family 4, subfamily C, 9 Extracellular (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity ovary(1)|skin(1) 2 TTTGTAACTGAGTTTGTCCTC 0.383000 HNSCC(20;0.049) OR5J2 282775 broad.mit.edu 37 11 55944903 55944903 + Missense_Mutation SNP A A C TCGA-BR-8369-01A-11D-2340-08 TCGA-BR-8369-10A-01D-2341-08 Untested Somatic Phase_I WXS none Illumina GAIIx 289a4096-4e30-4505-a60b-7c3a89da7ee6 acc4a8fb-74bb-4009-b4b7-23941bc1469a g.chr11:55944903A>C uc010rjb.1 + 1 810 c.810A>C c.(808-810)CAA>CAC p.Q270H NM_001005492 NP_001005492 Q8NH18 OR5J2_HUMAN olfactory receptor, family 5, subfamily J, 270 Extracellular (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity ovary(1)|large_intestine(1)|breast(1)|pancreas(1) 4 Esophageal squamous(21;0.00693) TTGTGGAACAAGAGAAAGTGG 0.438000 AHNAK 79026 broad.mit.edu 37 11 62286163 62286163 + Silent SNP G G A TCGA-BR-8369-01A-11D-2340-08 TCGA-BR-8369-10A-01D-2341-08 Untested Somatic Phase_I WXS none Illumina GAIIx 289a4096-4e30-4505-a60b-7c3a89da7ee6 acc4a8fb-74bb-4009-b4b7-23941bc1469a g.chr11:62286163G>A uc001ntl.2 - 5 16026 c.15726C>T c.(15724-15726)GGC>GGT p.G5242G AHNAK_uc001ntk.1_Intron NM_001620 NP_001611 Q09666 AHNK_HUMAN AHNAK nucleoprotein isoform 1 5242 nervous system development nucleus protein binding ovary(10)|pancreas(4)|skin(4)|upper_aerodigestive_tract(1) 19 Melanoma(852;0.155) CACCTGGGATGCCGATCTTGG 0.542000 AHNAK 79026 broad.mit.edu 37 11 62294047 62294047 + Silent SNP G G A TCGA-BR-8369-01A-11D-2340-08 TCGA-BR-8369-10A-01D-2341-08 Untested Somatic Phase_I WXS none Illumina GAIIx 289a4096-4e30-4505-a60b-7c3a89da7ee6 acc4a8fb-74bb-4009-b4b7-23941bc1469a g.chr11:62294047G>A uc001ntl.2 - 5 8142 c.7842C>T c.(7840-7842)GAC>GAT p.D2614D AHNAK_uc001ntk.1_Intron NM_001620 NP_001611 Q09666 AHNK_HUMAN AHNAK nucleoprotein isoform 1 2614 nervous system development nucleus protein binding ovary(10)|pancreas(4)|skin(4)|upper_aerodigestive_tract(1) 19 Melanoma(852;0.155) GCCCCTTGATGTCAACTTCGG 0.517000 MAP6 4135 broad.mit.edu 37 11 75298497 75298497 + Silent SNP T T C TCGA-BR-8369-01A-11D-2340-08 TCGA-BR-8369-10A-01D-2341-08 Untested Somatic Phase_I WXS none Illumina GAIIx 289a4096-4e30-4505-a60b-7c3a89da7ee6 acc4a8fb-74bb-4009-b4b7-23941bc1469a g.chr11:75298497T>C uc001owu.2 - 4 2114 c.2049A>G c.(2047-2049)CAA>CAG p.Q683Q NM_033063 NP_149052 Q96JE9 MAP6_HUMAN microtubule-associated protein 6 isoform 1 683 Pro-rich. Golgi apparatus|microtubule|perinuclear region of cytoplasm calmodulin binding 0 Ovarian(111;0.11) CTACAACATCTTGATCCTTGA 0.488000 CCDC83 220047 broad.mit.edu 37 11 85630404 85630404 + Missense_Mutation SNP T T G TCGA-BR-8369-01A-11D-2340-08 TCGA-BR-8369-10A-01D-2341-08 Untested Somatic Phase_I WXS none Illumina GAIIx 289a4096-4e30-4505-a60b-7c3a89da7ee6 acc4a8fb-74bb-4009-b4b7-23941bc1469a g.chr11:85630404T>G uc001pbh.1 + 11 1605 c.1093T>G c.(1093-1095)TTG>GTG p.L365V CCDC83_uc001pbg.1_Missense_Mutation_p.L396V|CCDC83_uc001pbi.1_RNA|CCDC83_uc001pbj.1_Missense_Mutation_p.L265V NM_173556 NP_775827 Q8IWF9 CCD83_HUMAN coiled-coil domain containing 83 365 skin(1) 1 Acute lymphoblastic leukemia(157;4.88e-06)|all_hematologic(158;0.00572) TTATGTAAACTTGGGCCCCCT 0.403000 MMP3 4314 broad.mit.edu 37 11 102713534 102713534 + Silent SNP C C T TCGA-BR-8369-01A-11D-2340-08 TCGA-BR-8369-10A-01D-2341-08 Untested Somatic Phase_I WXS none Illumina GAIIx 289a4096-4e30-4505-a60b-7c3a89da7ee6 acc4a8fb-74bb-4009-b4b7-23941bc1469a g.chr11:102713534C>T uc001phj.1 - 2 284 c.219G>A c.(217-219)TTG>TTA p.L73L NM_002422 NP_002413 P08254 MMP3_HUMAN matrix metalloproteinase 3 preproprotein 73 collagen catabolic process|proteolysis extracellular space|proteinaceous extracellular matrix calcium ion binding|metalloendopeptidase activity|zinc ion binding lung(1)|kidney(1) 2 all_hematologic(158;0.00092)|Acute lymphoblastic leukemia(157;0.000967) BRCA - Breast invasive adenocarcinoma(274;0.0142) Marimastat(DB00786)|Simvastatin(DB00641) CCGTCACCTCCAATCCAAGGA 0.483000 PDGFD 80310 broad.mit.edu 37 11 103780501 103780501 + Missense_Mutation SNP T T C TCGA-BR-8369-01A-11D-2340-08 TCGA-BR-8369-10A-01D-2341-08 Untested Somatic Phase_I WXS none Illumina GAIIx 289a4096-4e30-4505-a60b-7c3a89da7ee6 acc4a8fb-74bb-4009-b4b7-23941bc1469a g.chr11:103780501T>C uc001phq.2 - 7 1406 c.1034A>G c.(1033-1035)AAG>AGG p.K345R PDGFD_uc001php.2_Missense_Mutation_p.K339R NM_025208 NP_079484 Q9GZP0 PDGFD_HUMAN platelet derived growth factor D isoform 1 345 positive regulation of cell division endoplasmic reticulum lumen|extracellular region|Golgi membrane growth factor activity upper_aerodigestive_tract(1)|large_intestine(1) 2 Acute lymphoblastic leukemia(157;0.000994)|all_hematologic(158;0.0017)|Melanoma(852;0.0563)|all_neural(303;0.165) BRCA - Breast invasive adenocarcinoma(274;0.00136)|Epithelial(105;0.111) AGCCATGGTCTTAGCTCTACC 0.463000 ALKBH8 91801 broad.mit.edu 37 11 107423922 107423922 + Missense_Mutation SNP T T A TCGA-BR-8369-01A-11D-2340-08 TCGA-BR-8369-10A-01D-2341-08 Untested Somatic Phase_I WXS none Illumina GAIIx 289a4096-4e30-4505-a60b-7c3a89da7ee6 acc4a8fb-74bb-4009-b4b7-23941bc1469a g.chr11:107423922T>A uc010rvr.1 - 5 582 c.507A>T c.(505-507)AAA>AAT p.K169N ALKBH8_uc001pjk.2_5'Flank|ALKBH8_uc010rvq.1_Missense_Mutation_p.K32N|ALKBH8_uc009yxp.2_Missense_Mutation_p.K169N|ALKBH8_uc001pjl.2_RNA NM_138775 NP_620130 Q96BT7 ALKB8_HUMAN alkB, alkylation repair homolog 8 169 response to DNA damage stimulus cytosol|nucleus metal ion binding|nucleotide binding|oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen, 2-oxoglutarate as one donor, and incorporation of one atom each of oxygen into both donors|protein binding|RNA binding|tRNA (uracil) methyltransferase activity 0 Melanoma(852;0.000288)|Acute lymphoblastic leukemia(157;0.000966)|all_hematologic(158;0.00301)|all_epithelial(67;0.00512)|Breast(348;0.104) BRCA - Breast invasive adenocarcinoma(274;3.53e-05)|Epithelial(105;0.00029)|all cancers(92;0.00518) GTTTTAAGGATTTTTGAGCTG 0.323000 MLL 4297 broad.mit.edu 37 11 118347547 118347547 + Missense_Mutation SNP T T C TCGA-BR-8369-01A-11D-2340-08 TCGA-BR-8369-10A-01D-2341-08 Untested Somatic Phase_I WXS none Illumina GAIIx 289a4096-4e30-4505-a60b-7c3a89da7ee6 acc4a8fb-74bb-4009-b4b7-23941bc1469a g.chr11:118347547T>C uc001pta.2 + 4 3207 c.3184T>C c.(3184-3186)TCT>CCT p.S1062P MLL_uc001ptb.2_Missense_Mutation_p.S1062P|MLL_uc001ptd.1_Missense_Mutation_p.S54P NM_005933 NP_005924 Q03164 MLL1_HUMAN myeloid/lymphoid or mixed-lineage leukemia 1062 apoptosis|embryonic hemopoiesis|histone H4-K16 acetylation|positive regulation of transcription, DNA-dependent|protein complex assembly|transcription from RNA polymerase II promoter MLL1 complex AT DNA binding|histone acetyl-lysine binding|histone methyltransferase activity (H3-K4 specific)|protein homodimerization activity|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|unmethylated CpG binding|zinc ion binding lung(7)|ovary(5)|kidney(5)|central_nervous_system(3)|pancreas(2)|urinary_tract(1)|breast(1)|skin(1) 25 all_hematologic(175;0.046) all_hematologic(192;1.13e-50)|all_neural(223;3.18e-06)|Breast(348;1.07e-05)|Medulloblastoma(222;0.0425)|Hepatocellular(160;0.244) OV - Ovarian serous cystadenocarcinoma(223;2.77e-44)|BRCA - Breast invasive adenocarcinoma(274;1.2e-11)|Lung(307;3.48e-06)|LUSC - Lung squamous cell carcinoma(976;7.92e-05)|Colorectal(284;0.144) ATCAGAGACCTCTGTGCGAGG 0.463000 T|O MLL|MLLT1|MLLT2|MLLT3|MLLT4|MLLT7|MLLT10|MLLT6|ELL|EPS15|AF1Q|CREBBP|SH3GL1|FNBP1|PNUTL1|MSF|GPHN|GMPS|SSH3BP1|ARHGEF12|GAS7|FOXO3A|LAF4|LCX|SEPT6|LPP|CBFA2T1|GRAF|EP300|PICALM|HEAB AML|ALL SLCO1B3 28234 broad.mit.edu 37 12 21033890 21033890 + Missense_Mutation SNP G G T TCGA-BR-8369-01A-11D-2340-08 TCGA-BR-8369-10A-01D-2341-08 Untested Somatic Phase_I WXS none Illumina GAIIx 289a4096-4e30-4505-a60b-7c3a89da7ee6 acc4a8fb-74bb-4009-b4b7-23941bc1469a g.chr12:21033890G>T uc001rek.2 + 11 1559 c.1433G>T c.(1432-1434)GGA>GTA p.G478V SLCO1B3_uc001rel.2_Missense_Mutation_p.G478V|SLCO1B3_uc010sil.1_Missense_Mutation_p.G478V|LST-3TM12_uc010sim.1_Intron|SLCO1B3_uc001reo.2_Missense_Mutation_p.G303V NM_019844 NP_062818 Q9NPD5 SO1B3_HUMAN solute carrier organic anion transporter family, 478 Extracellular (Potential).|Kazal-like. bile acid metabolic process|sodium-independent organic anion transport basolateral plasma membrane|cytoplasm|integral to plasma membrane bile acid transmembrane transporter activity|organic anion transmembrane transporter activity large_intestine(2)|ovary(1)|skin(1) 4 Esophageal squamous(101;0.149) GGGAACAATGGAATAACTTAC 0.388000 LRRK2 120892 broad.mit.edu 37 12 40716964 40716964 + Missense_Mutation SNP G G T TCGA-BR-8369-01A-11D-2340-08 TCGA-BR-8369-10A-01D-2341-08 Untested Somatic Phase_I WXS none Illumina GAIIx 289a4096-4e30-4505-a60b-7c3a89da7ee6 acc4a8fb-74bb-4009-b4b7-23941bc1469a g.chr12:40716964G>T uc001rmg.3 + 38 5633 c.5512G>T c.(5512-5514)GAT>TAT p.D1838Y LRRK2_uc009zjw.2_Missense_Mutation_p.D676Y|LRRK2_uc001rmi.2_Missense_Mutation_p.D671Y NM_198578 NP_940980 Q5S007 LRRK2_HUMAN leucine-rich repeat kinase 2 1838 activation of MAPKK activity|determination of adult lifespan|exploration behavior|intracellular distribution of mitochondria|negative regulation of branching morphogenesis of a nerve|negative regulation of dendritic spine morphogenesis|negative regulation of neuroblast proliferation|negative regulation of neuron maturation|neuromuscular junction development|neuron death|peptidyl-serine phosphorylation|positive regulation of autophagy|positive regulation of dopamine receptor signaling pathway|positive regulation of programmed cell death|positive regulation of proteasomal ubiquitin-dependent protein catabolic process|positive regulation of protein phosphorylation|positive regulation of protein ubiquitination|protein autophosphorylation|regulation of kidney size|regulation of locomotion|regulation of membrane potential|response to oxidative stress|small GTPase mediated signal transduction|tangential migration from the subventricular zone to the olfactory bulb external side of mitochondrial outer membrane ATP binding|GTP binding|GTP-dependent protein kinase activity|GTPase activator activity|MAP kinase kinase activity|protein homodimerization activity|tubulin binding ovary(12)|stomach(5)|upper_aerodigestive_tract(2)|lung(2)|large_intestine(1)|urinary_tract(1)|pancreas(1) 24 all_cancers(12;0.00108)|Breast(8;0.218) Lung NSC(34;0.0942)|all_lung(34;0.11) CTTCTCAGGAGATCTCTTAGT 0.308000 KRT73 319101 broad.mit.edu 37 12 53010119 53010119 + Missense_Mutation SNP C C T TCGA-BR-8369-01A-11D-2340-08 TCGA-BR-8369-10A-01D-2341-08 Untested Somatic Phase_I WXS none Illumina GAIIx 289a4096-4e30-4505-a60b-7c3a89da7ee6 acc4a8fb-74bb-4009-b4b7-23941bc1469a g.chr12:53010119C>T uc001sas.2 - 2 528 c.493G>A c.(493-495)GAG>AAG p.E165K NM_175068 NP_778238 Q86Y46 K2C73_HUMAN keratin 73 165 Coil 1A.|Rod. keratin filament structural molecule activity large_intestine(2)|ovary(2)|skin(2) 6 BRCA - Breast invasive adenocarcinoma(357;0.189) TGTAGCAGCTCCCACTTGGTC 0.557000 KRT2 3849 broad.mit.edu 37 12 53043714 53043714 + Missense_Mutation SNP A A C TCGA-BR-8369-01A-11D-2340-08 TCGA-BR-8369-10A-01D-2341-08 Untested Somatic Phase_I WXS none Illumina GAIIx 289a4096-4e30-4505-a60b-7c3a89da7ee6 acc4a8fb-74bb-4009-b4b7-23941bc1469a g.chr12:53043714A>C uc001sat.2 - 3 878 c.845T>G c.(844-846)TTT>TGT p.F282C NM_000423 NP_000414 P35908 K22E_HUMAN keratin 2 282 Coil 1B.|Rod. keratinization|keratinocyte activation|keratinocyte migration|keratinocyte proliferation Golgi apparatus|keratin filament protein binding|structural constituent of cytoskeleton ovary(2) 2 BRCA - Breast invasive adenocarcinoma(357;0.19) AAGCGTCACAAAATCATTCTC 0.443000 CS 1431 broad.mit.edu 37 12 56679728 56679728 + Missense_Mutation SNP G G A TCGA-BR-8369-01A-11D-2340-08 TCGA-BR-8369-10A-01D-2341-08 Untested Somatic Phase_I WXS none Illumina GAIIx 289a4096-4e30-4505-a60b-7c3a89da7ee6 acc4a8fb-74bb-4009-b4b7-23941bc1469a g.chr12:56679728G>A uc001sks.1 - 3 363 c.173C>T c.(172-174)ACG>ATG p.T58M CS_uc010sql.1_Missense_Mutation_p.T45M|CS_uc001skr.1_Translation_Start_Site|CS_uc001skt.1_Missense_Mutation_p.T13M|CS_uc010sqm.1_Translation_Start_Site NM_004077 NP_004068 O75390 CISY_HUMAN citrate synthase precursor 58 cellular carbohydrate metabolic process|tricarboxylic acid cycle mitochondrial matrix citrate (Si)-synthase activity 0 Myeloproliferative disorder(1001;0.000374) BRCA - Breast invasive adenocarcinoma(357;6.17e-07) GCCCACCACCGTCTTGCCATG 0.438000 TIMELESS 8914 broad.mit.edu 37 12 56826160 56826160 + Missense_Mutation SNP C C T TCGA-BR-8369-01A-11D-2340-08 TCGA-BR-8369-10A-01D-2341-08 Untested Somatic Phase_I WXS none Illumina GAIIx 289a4096-4e30-4505-a60b-7c3a89da7ee6 acc4a8fb-74bb-4009-b4b7-23941bc1469a g.chr12:56826160C>T uc001slf.2 - 7 848 c.680G>A c.(679-681)CGT>CAT p.R227H TIMELESS_uc001slg.2_Missense_Mutation_p.R226H NM_003920 NP_003911 Q9UNS1 TIM_HUMAN timeless homolog 227 cell division|circadian rhythm|detection of abiotic stimulus|mitosis|morphogenesis of an epithelium|negative regulation of transcription, DNA-dependent|regulation of S phase|response to DNA damage stimulus|transcription, DNA-dependent nuclear chromatin ovary(5)|breast(2)|pancreas(1) 8 CACCTGGTCACGAAACATAAG 0.537000 PPFIA2 8499 broad.mit.edu 37 12 81657026 81657026 + Missense_Mutation SNP T T G TCGA-BR-8369-01A-11D-2340-08 TCGA-BR-8369-10A-01D-2341-08 Untested Somatic Phase_I WXS none Illumina GAIIx 289a4096-4e30-4505-a60b-7c3a89da7ee6 acc4a8fb-74bb-4009-b4b7-23941bc1469a g.chr12:81657026T>G uc001szo.1 - 31 3860 c.3699A>C c.(3697-3699)AGA>AGC p.R1233S PPFIA2_uc010sue.1_Intron|PPFIA2_uc010sug.1_RNA|PPFIA2_uc010suh.1_RNA|PPFIA2_uc010sui.1_RNA|PPFIA2_uc010suj.1_RNA|PPFIA2_uc009zsi.1_RNA|PPFIA2_uc010suf.1_RNA|PPFIA2_uc009zsh.2_RNA NM_003625 NP_003616 B7Z663 B7Z663_HUMAN PTPRF interacting protein alpha 2 1132 ovary(3)|lung(2)|pancreas(1) 6 TTGTCATTTTTCTTGACTGCC 0.418000 MGAT4C 25834 broad.mit.edu 37 12 86373333 86373333 + Missense_Mutation SNP T T C TCGA-BR-8369-01A-11D-2340-08 TCGA-BR-8369-10A-01D-2341-08 Untested Somatic Phase_I WXS none Illumina GAIIx 289a4096-4e30-4505-a60b-7c3a89da7ee6 acc4a8fb-74bb-4009-b4b7-23941bc1469a g.chr12:86373333T>C uc001tai.3 - 8 2421 c.1171A>G c.(1171-1173)AAA>GAA p.K391E MGAT4C_uc001tal.3_Missense_Mutation_p.K391E|MGAT4C_uc001taj.3_Missense_Mutation_p.K391E|MGAT4C_uc001tak.3_Missense_Mutation_p.K391E|MGAT4C_uc010sum.1_Missense_Mutation_p.K415E|MGAT4C_uc001tah.3_Missense_Mutation_p.K391E NM_013244 NP_037376 Q9UBM8 MGT4C_HUMAN alpha-1,3-mannosyl-glycoprotein 391 Lumenal (Potential). post-translational protein modification|protein N-linked glycosylation via asparagine Golgi membrane|integral to membrane alpha-1,3-mannosylglycoprotein 4-beta-N-acetylglucosaminyltransferase activity|metal ion binding ovary(3) 3 ACtttaattttttttattata 0.358000 GAS2L3 283431 broad.mit.edu 37 12 100994193 100994193 + Missense_Mutation SNP C C T TCGA-BR-8369-01A-11D-2340-08 TCGA-BR-8369-10A-01D-2341-08 Untested Somatic Phase_I WXS none Illumina GAIIx 289a4096-4e30-4505-a60b-7c3a89da7ee6 acc4a8fb-74bb-4009-b4b7-23941bc1469a g.chr12:100994193C>T uc001thu.2 + 4 278 c.52C>T c.(52-54)CGG>TGG p.R18W GAS2L3_uc009zty.2_Missense_Mutation_p.R18W|GAS2L3_uc001thv.2_5'UTR NM_174942 NP_777602 Q86XJ1 GA2L3_HUMAN growth arrest-specific 2 like 3 18 cell cycle arrest skin(1) 1 TCTAAGTCCTCGGAGTCCTCT 0.423000 ACACB 32 broad.mit.edu 37 12 109637317 109637317 + Missense_Mutation SNP G G A TCGA-BR-8369-01A-11D-2340-08 TCGA-BR-8369-10A-01D-2341-08 Untested Somatic Phase_I WXS none Illumina GAIIx 289a4096-4e30-4505-a60b-7c3a89da7ee6 acc4a8fb-74bb-4009-b4b7-23941bc1469a g.chr12:109637317G>A uc001tob.2 + 18 2857 c.2738G>A c.(2737-2739)GGG>GAG p.G913E ACACB_uc001toc.2_Missense_Mutation_p.G913E NM_001093 NP_001084 O00763 ACACB_HUMAN acetyl-Coenzyme A carboxylase beta 913 Biotinyl-binding. acetyl-CoA metabolic process|carnitine shuttle|energy reserve metabolic process|fatty acid biosynthetic process|positive regulation of cellular metabolic process|protein homotetramerization|regulation of fatty acid oxidation cytosol|endomembrane system|Golgi apparatus|membrane acetyl-CoA carboxylase activity|ATP binding|biotin carboxylase activity|metal ion binding|protein binding ovary(5)|upper_aerodigestive_tract(1)|pancreas(1)|skin(1) 8 Biotin(DB00121) GTGGAGGATGGGGGCCACGTT 0.572000 CLIP1 6249 broad.mit.edu 37 12 122826228 122826228 + Missense_Mutation SNP T T A TCGA-BR-8369-01A-11D-2340-08 TCGA-BR-8369-10A-01D-2341-08 Untested Somatic Phase_I WXS none Illumina GAIIx 289a4096-4e30-4505-a60b-7c3a89da7ee6 acc4a8fb-74bb-4009-b4b7-23941bc1469a g.chr12:122826228T>A uc001ucg.1 - 10 1629 c.1523A>T c.(1522-1524)GAA>GTA p.E508V CLIP1_uc001uch.1_Missense_Mutation_p.E497V|CLIP1_uc001uci.1_Missense_Mutation_p.E462V|CLIP1_uc001ucj.1_Missense_Mutation_p.E198V|CLIP1_uc009zxo.1_Missense_Mutation_p.E64V NM_002956 NP_002947 P30622 CLIP1_HUMAN restin isoform a 508 Potential. mitotic prometaphase|positive regulation of microtubule polymerization centrosome|cytosol|endosome|intermediate filament|kinetochore nucleic acid binding|protein homodimerization activity|zinc ion binding ovary(2)|breast(1) 3 all_neural(191;0.0837)|Medulloblastoma(191;0.163) OV - Ovarian serous cystadenocarcinoma(86;1.81e-05)|Epithelial(86;6.85e-05)|BRCA - Breast invasive adenocarcinoma(302;0.226) ACGTGACTTTTCTGAAACTGT 0.348000 SACS 26278 broad.mit.edu 37 13 23907444 23907444 + Missense_Mutation SNP A A G TCGA-BR-8369-01A-11D-2340-08 TCGA-BR-8369-10A-01D-2341-08 Untested Somatic Phase_I WXS none Illumina GAIIx 289a4096-4e30-4505-a60b-7c3a89da7ee6 acc4a8fb-74bb-4009-b4b7-23941bc1469a g.chr13:23907444A>G uc001uon.2 - 10 11160 c.10571T>C c.(10570-10572)TTA>TCA p.L3524S SACS_uc001uoo.2_Missense_Mutation_p.L3377S|SACS_uc001uop.1_Intron|SACS_uc001uoq.1_Intron NM_014363 NP_055178 Q9NZJ4 SACS_HUMAN sacsin 3524 cell death|negative regulation of inclusion body assembly|protein folding axon|cell body fiber|dendrite|mitochondrion|nucleus ATP binding|chaperone binding|Hsp70 protein binding|proteasome binding ovary(7)|skin(2)|upper_aerodigestive_tract(1)|large_intestine(1)|pancreas(1) 12 all_cancers(29;1.51e-22)|all_epithelial(30;7.82e-19)|all_lung(29;4.71e-18)|Lung SC(185;0.0225)|Breast(139;0.128) all cancers(112;0.00197)|Epithelial(112;0.00854)|OV - Ovarian serous cystadenocarcinoma(117;0.0298)|Lung(94;0.189) GATTATCAATAAACTTTCCAG 0.318000 C13orf18 80183 broad.mit.edu 37 13 46946450 46946450 + Missense_Mutation SNP A A T TCGA-BR-8369-01A-11D-2340-08 TCGA-BR-8369-10A-01D-2341-08 Untested Somatic Phase_I WXS none Illumina GAIIx 289a4096-4e30-4505-a60b-7c3a89da7ee6 acc4a8fb-74bb-4009-b4b7-23941bc1469a g.chr13:46946450A>T uc010acl.2 - 3 766 c.161T>A c.(160-162)ATT>AAT p.I54N C13orf18_uc001vbf.3_Intron|C13orf18_uc001vbg.3_5'UTR|C13orf18_uc010tfz.1_Intron|C13orf18_uc010acm.2_Intron|C13orf18_uc010acn.2_Intron|C13orf18_uc001vbe.3_Missense_Mutation_p.I54N|C13orf18_uc001vbh.3_Missense_Mutation_p.I54N|C13orf18_uc001vbi.3_Intron|C13orf18_uc010aco.1_Missense_Mutation_p.I54N|C13orf18_uc010tga.1_Intron NM_025113 NP_079389 Q9H714 CM018_HUMAN hypothetical protein LOC80183 54 0 Lung NSC(96;2.31e-05)|Breast(56;8.04e-05)|Prostate(109;0.00217)|Hepatocellular(98;0.0207)|Lung SC(185;0.0262) KIRC - Kidney renal clear cell carcinoma(16;0.234) GBM - Glioblastoma multiforme(144;2.19e-05) CTGGGGGTTAATCCAGACAGC 0.537000 RBM26 64062 broad.mit.edu 37 13 79940921 79940921 + Missense_Mutation SNP T T C TCGA-BR-8369-01A-11D-2340-08 TCGA-BR-8369-10A-01D-2341-08 Untested Somatic Phase_I WXS none Illumina GAIIx 289a4096-4e30-4505-a60b-7c3a89da7ee6 acc4a8fb-74bb-4009-b4b7-23941bc1469a g.chr13:79940921T>C uc001vkz.2 - 7 996 c.982A>G c.(982-984)ATG>GTG p.M328V RBM26_uc001vky.2_Missense_Mutation_p.M328V|RBM26_uc001vla.2_Missense_Mutation_p.M328V|RBM26_uc001vkx.2_Missense_Mutation_p.M40V|RBM26_uc001vlb.1_RNA NM_022118 NP_071401 Q5T8P6 RBM26_HUMAN RNA binding motif protein 26 328 Pro-rich. mRNA processing nucleotide binding|protein binding|RNA binding|zinc ion binding ovary(1) 1 Acute lymphoblastic leukemia(28;0.0279) GBM - Glioblastoma multiforme(99;0.0188) AAAGGCAGCATACCAGGAAGA 0.488000 SLITRK1 114798 broad.mit.edu 37 13 84453566 84453566 + Missense_Mutation SNP A A G TCGA-BR-8369-01A-11D-2340-08 TCGA-BR-8369-10A-01D-2341-08 Untested Somatic Phase_I WXS none Illumina GAIIx 289a4096-4e30-4505-a60b-7c3a89da7ee6 acc4a8fb-74bb-4009-b4b7-23941bc1469a g.chr13:84453566A>G uc001vlk.2 - 1 2963 c.2077T>C c.(2077-2079)TCG>CCG p.S693P NM_052910 NP_443142 Q96PX8 SLIK1_HUMAN slit and trk like 1 protein precursor 693 Cytoplasmic (Potential). integral to membrane ovary(2)|upper_aerodigestive_tract(1)|central_nervous_system(1)|skin(1) 5 Medulloblastoma(90;0.18) Breast(118;0.212) GBM - Glioblastoma multiforme(99;0.07) TCTGAGAGCGAGTGAGAGCCA 0.587000 SLITRK6 84189 broad.mit.edu 37 13 86368709 86368709 + Silent SNP A A G TCGA-BR-8369-01A-11D-2340-08 TCGA-BR-8369-10A-01D-2341-08 Untested Somatic Phase_I WXS none Illumina GAIIx 289a4096-4e30-4505-a60b-7c3a89da7ee6 acc4a8fb-74bb-4009-b4b7-23941bc1469a g.chr13:86368709A>G uc001vll.1 - 2 2394 c.1935T>C c.(1933-1935)GAT>GAC p.D645D SLITRK6_uc010afe.1_Intron NM_032229 NP_115605 Q9H5Y7 SLIK6_HUMAN slit and trk like 6 precursor 645 Cytoplasmic (Potential). integral to membrane large_intestine(1)|ovary(1)|central_nervous_system(1) 3 all_neural(89;0.117)|Medulloblastoma(90;0.163) GBM - Glioblastoma multiforme(99;0.0456) TCATTTGCTCATCTACTTGTT 0.428000 FGF14 2259 broad.mit.edu 37 13 102521141 102521141 + Silent SNP A A C TCGA-BR-8369-01A-11D-2340-08 TCGA-BR-8369-10A-01D-2341-08 Untested Somatic Phase_I WXS none Illumina GAIIx 289a4096-4e30-4505-a60b-7c3a89da7ee6 acc4a8fb-74bb-4009-b4b7-23941bc1469a g.chr13:102521141A>C uc001vpe.2 - 3 342 c.342T>G c.(340-342)GTT>GTG p.V114V FGF14_uc001vpf.2_Silent_p.V119V NM_004115 NP_004106 Q92915 FGF14_HUMAN fibroblast growth factor 14 isoform 1A 114 cell death|cell-cell signaling|JNK cascade|nervous system development|signal transduction nucleus growth factor activity|heparin binding ovary(2)|lung(1)|large_intestine(1) 4 all_neural(89;0.0239)|Medulloblastoma(90;0.163)|Lung SC(71;0.184) CCTGGATGGCAACAACACGTA 0.448000 OR4M1 441670 broad.mit.edu 37 14 20248972 20248972 + Missense_Mutation SNP T T C TCGA-BR-8369-01A-11D-2340-08 TCGA-BR-8369-10A-01D-2341-08 Untested Somatic Phase_I WXS none Illumina GAIIx 289a4096-4e30-4505-a60b-7c3a89da7ee6 acc4a8fb-74bb-4009-b4b7-23941bc1469a g.chr14:20248972T>C uc010tku.1 + 1 491 c.491T>C c.(490-492)GTT>GCT p.V164A NM_001005500 NP_001005500 Q8NGD0 OR4M1_HUMAN olfactory receptor, family 4, subfamily M, 164 Extracellular (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity 0 all_cancers(95;0.00108) Epithelial(56;9.96e-07)|all cancers(55;2.95e-06) GBM - Glioblastoma multiforme(265;0.00327) GCTCTCATTGTTCGACTTCCT 0.493000 DHRS4L1 728635 broad.mit.edu 37 14 24507075 24507075 + Silent SNP G G C TCGA-BR-8369-01A-11D-2340-08 TCGA-BR-8369-10A-01D-2341-08 Untested Somatic Phase_I WXS none Illumina GAIIx 289a4096-4e30-4505-a60b-7c3a89da7ee6 acc4a8fb-74bb-4009-b4b7-23941bc1469a g.chr14:24507075G>C uc010alc.2 + 2 252 c.252G>C c.(250-252)ACG>ACC p.T84T DHRS4L1_uc010tnu.1_Intron NM_001082488 NP_001075957 P0CG22 DR4L1_HUMAN dehydrogenase/reductase (SDR family) member 4 84 binding|oxidoreductase activity 0 TGAGCATGACGGGCACTGTGT 0.647000 ZBTB25 7597 broad.mit.edu 37 14 64953979 64953979 + Nonsense_Mutation SNP G G A TCGA-BR-8369-01A-11D-2340-08 TCGA-BR-8369-10A-01D-2341-08 Untested Somatic Phase_I WXS none Illumina GAIIx 289a4096-4e30-4505-a60b-7c3a89da7ee6 acc4a8fb-74bb-4009-b4b7-23941bc1469a g.chr14:64953979G>A uc001xhf.2 - 3 1153 c.970C>T c.(970-972)CAA>TAA p.Q324* ZBTB25_uc001xhc.2_Intron|ZBTB25_uc001xhg.2_Nonsense_Mutation_p.Q324* NM_006977 NP_008908 P24278 ZBT25_HUMAN zinc finger protein 46 324 cytoplasm|nucleus DNA binding|protein binding|sequence-specific DNA binding transcription factor activity|zinc ion binding ovary(1)|skin(1) 2 all cancers(60;0.00865)|OV - Ovarian serous cystadenocarcinoma(108;0.0102)|BRCA - Breast invasive adenocarcinoma(234;0.0469) AAAGATACTTGACTGATCTGC 0.443000 FNTB 2342 broad.mit.edu 37 14 65521395 65521395 + Silent SNP C C T TCGA-BR-8369-01A-11D-2340-08 TCGA-BR-8369-10A-01D-2341-08 Untested Somatic Phase_I WXS none Illumina GAIIx 289a4096-4e30-4505-a60b-7c3a89da7ee6 acc4a8fb-74bb-4009-b4b7-23941bc1469a g.chr14:65521395C>T uc001xia.2 + 11 1335 c.1170C>T c.(1168-1170)CCC>CCT p.P390P FNTB_uc010tsl.1_Silent_p.P424P|FNTB_uc010tsm.1_Silent_p.P344P|MAX_uc001xic.1_Intron|FNTB_uc001xid.2_Silent_p.P146P|FNTB_uc010tso.1_Silent_p.P305P NM_002028 NP_002019 P49356 FNTB_HUMAN farnesyltransferase, CAAX box, beta 390 protein farnesylation microtubule associated complex protein binding|protein farnesyltransferase activity ovary(1) 1 all cancers(60;0.00115)|OV - Ovarian serous cystadenocarcinoma(108;0.00412)|BRCA - Breast invasive adenocarcinoma(234;0.011) TGGGTGTGCCCGAAAACGCTC 0.587000 ADAM21 8747 broad.mit.edu 37 14 70926219 70926219 + Missense_Mutation SNP G G A TCGA-BR-8369-01A-11D-2340-08 TCGA-BR-8369-10A-01D-2341-08 Untested Somatic Phase_I WXS none Illumina GAIIx 289a4096-4e30-4505-a60b-7c3a89da7ee6 acc4a8fb-74bb-4009-b4b7-23941bc1469a g.chr14:70926219G>A uc001xmd.2 + 1 2003 c.2003G>A c.(2002-2004)GGG>GAG p.G668E NM_003813 NP_003804 Q9UKJ8 ADA21_HUMAN ADAM metallopeptidase domain 21 preproprotein 668 Extracellular (Potential). proteolysis|single fertilization integral to membrane metalloendopeptidase activity|zinc ion binding pancreas(1)|skin(1) 2 all cancers(60;0.00326)|BRCA - Breast invasive adenocarcinoma(234;0.00646)|OV - Ovarian serous cystadenocarcinoma(108;0.0401) AGAGGCTATGGGGGCAGTATT 0.493000 TMEM90A 646658 broad.mit.edu 37 14 74876225 74876225 + Missense_Mutation SNP C C G TCGA-BR-8369-01A-11D-2340-08 TCGA-BR-8369-10A-01D-2341-08 Untested Somatic Phase_I WXS none Illumina GAIIx 289a4096-4e30-4505-a60b-7c3a89da7ee6 acc4a8fb-74bb-4009-b4b7-23941bc1469a g.chr14:74876225C>G uc001xpx.2 - 2 471 c.223G>C c.(223-225)GGG>CGG p.G75R NM_001105579 NP_001099049 A6NDD5 SYN1L_HUMAN transmembrane protein 90A 75 response to biotic stimulus Golgi apparatus|integral to membrane 0 BRCA - Breast invasive adenocarcinoma(234;0.00159) TTGTCTCTCCCCAGGAGGCAG 0.697000 KIAA1409 57578 broad.mit.edu 37 14 94109905 94109905 + Missense_Mutation SNP G G A TCGA-BR-8369-01A-11D-2340-08 TCGA-BR-8369-10A-01D-2341-08 Untested Somatic Phase_I WXS none Illumina GAIIx 289a4096-4e30-4505-a60b-7c3a89da7ee6 acc4a8fb-74bb-4009-b4b7-23941bc1469a g.chr14:94109905G>A uc001ybv.1 + 33 5641 c.5558G>A c.(5557-5559)TGC>TAC p.C1853Y KIAA1409_uc001ybs.1_Missense_Mutation_p.C1831Y NM_020818 NP_065869 Q9P2D8 UNC79_HUMAN hypothetical protein LOC57578 2008 integral to membrane ovary(10)|skin(4)|large_intestine(3) 17 all_cancers(154;0.0354)|all_epithelial(191;0.216) Epithelial(152;0.188) CTTTGCAGATGCCATGACTGT 0.443000 EVL 51466 broad.mit.edu 37 14 100604082 100604082 + Missense_Mutation SNP C C T TCGA-BR-8369-01A-11D-2340-08 TCGA-BR-8369-10A-01D-2341-08 Untested Somatic Phase_I WXS none Illumina GAIIx 289a4096-4e30-4505-a60b-7c3a89da7ee6 acc4a8fb-74bb-4009-b4b7-23941bc1469a g.chr14:100604082C>T uc001ygt.2 + 11 1270 c.1031C>T c.(1030-1032)CCG>CTG p.P344L EVL_uc001ygv.2_Missense_Mutation_p.P350L|EVL_uc001ygu.2_Missense_Mutation_p.P346L|EVL_uc010avu.2_Missense_Mutation_p.P203L NM_016337 NP_057421 Q9UI08 EVL_HUMAN Enah/Vasp-like 344 EVH2. actin polymerization or depolymerization|axon guidance|cell surface receptor linked signaling pathway|organ morphogenesis cytoskeleton|cytosol|focal adhesion|lamellipodium actin binding|profilin binding|SH3 domain binding large_intestine(2)|ovary(1) 3 Melanoma(154;0.152) CGTAGAACCCCGTCTGTGGCA 0.622000 MKRN3 7681 broad.mit.edu 37 15 23811300 23811300 + Missense_Mutation SNP G G A TCGA-BR-8369-01A-11D-2340-08 TCGA-BR-8369-10A-01D-2341-08 Untested Somatic Phase_I WXS none Illumina GAIIx 289a4096-4e30-4505-a60b-7c3a89da7ee6 acc4a8fb-74bb-4009-b4b7-23941bc1469a g.chr15:23811300G>A uc001ywh.3 + 1 847 c.371G>A c.(370-372)CGG>CAG p.R124Q MKRN3_uc001ywi.2_Intron|MKRN3_uc010ayi.1_Missense_Mutation_p.R124Q NM_005664 NP_005655 Q13064 MKRN3_HUMAN makorin ring finger protein 3 124 ribonucleoprotein complex ligase activity|nucleic acid binding|zinc ion binding lung(6)|large_intestine(2)|ovary(2) 10 all_cancers(20;8.44e-25)|all_epithelial(15;3.69e-22)|Lung NSC(15;2.96e-18)|all_lung(15;2.8e-17)|Breast(32;0.000353)|Colorectal(260;0.14) all cancers(64;3.02e-06)|Epithelial(43;1.94e-05)|BRCA - Breast invasive adenocarcinoma(123;0.0012) CTTTCTGGTCGGAAGATGGCC 0.602000 ATP10A 57194 broad.mit.edu 37 15 25958993 25958993 + Silent SNP C C T TCGA-BR-8369-01A-11D-2340-08 TCGA-BR-8369-10A-01D-2341-08 Untested Somatic Phase_I WXS none Illumina GAIIx 289a4096-4e30-4505-a60b-7c3a89da7ee6 acc4a8fb-74bb-4009-b4b7-23941bc1469a g.chr15:25958993C>T uc010ayu.2 - 10 2278 c.2172G>A c.(2170-2172)GTG>GTA p.V724V NM_024490 NP_077816 O60312 AT10A_HUMAN ATPase, class V, type 10A 724 Cytoplasmic (Potential). ATP biosynthetic process|regulation of cell shape integral to membrane|plasma membrane ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|magnesium ion binding|phospholipid-translocating ATPase activity pancreas(2)|ovary(1)|breast(1)|liver(1) 5 all_cancers(20;5.16e-25)|all_lung(180;1.51e-14)|Acute lymphoblastic leukemia(1;2.53e-05)|all_hematologic(1;0.000267)|Breast(32;0.00125) all cancers(64;9.48e-07)|Epithelial(43;1.69e-06)|BRCA - Breast invasive adenocarcinoma(123;0.0252)|Lung(196;0.244) GGGGCAGCTCCACTGACACTT 0.632000 RYR3 6263 broad.mit.edu 37 15 33916068 33916068 + Nonsense_Mutation SNP T T G TCGA-BR-8369-01A-11D-2340-08 TCGA-BR-8369-10A-01D-2341-08 Untested Somatic Phase_I WXS none Illumina GAIIx 289a4096-4e30-4505-a60b-7c3a89da7ee6 acc4a8fb-74bb-4009-b4b7-23941bc1469a g.chr15:33916068T>G uc001zhi.2 + 20 2488 c.2418T>G c.(2416-2418)TAT>TAG p.Y806* RYR3_uc010bar.2_Nonsense_Mutation_p.Y806* NM_001036 NP_001027 Q15413 RYR3_HUMAN ryanodine receptor 3 806 Cytoplasmic (By similarity). cellular calcium ion homeostasis integral to membrane calcium ion binding|receptor activity|ryanodine-sensitive calcium-release channel activity ovary(5)|central_nervous_system(4)|lung(1) 10 all_lung(180;7.18e-09) all cancers(64;8.95e-12)|GBM - Glioblastoma multiforme(186;0.00109)|BRCA - Breast invasive adenocarcinoma(123;0.0363) CCTCTGGCTATGCCCCTTGCT 0.428000 RYR3 6263 broad.mit.edu 37 15 33993213 33993213 + Missense_Mutation SNP G G T TCGA-BR-8369-01A-11D-2340-08 TCGA-BR-8369-10A-01D-2341-08 Untested Somatic Phase_I WXS none Illumina GAIIx 289a4096-4e30-4505-a60b-7c3a89da7ee6 acc4a8fb-74bb-4009-b4b7-23941bc1469a g.chr15:33993213G>T uc001zhi.2 + 42 6485 c.6415G>T c.(6415-6417)GTG>TTG p.V2139L RYR3_uc010bar.2_Missense_Mutation_p.V2139L NM_001036 NP_001027 Q15413 RYR3_HUMAN ryanodine receptor 3 2139 4 X approximate repeats.|Cytoplasmic (By similarity). cellular calcium ion homeostasis integral to membrane calcium ion binding|receptor activity|ryanodine-sensitive calcium-release channel activity ovary(5)|central_nervous_system(4)|lung(1) 10 all_lung(180;7.18e-09) all cancers(64;8.95e-12)|GBM - Glioblastoma multiforme(186;0.00109)|BRCA - Breast invasive adenocarcinoma(123;0.0363) CCCGCTGGATGTGGCAGCTTC 0.567000 OREG0023030 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) AQR 9716 broad.mit.edu 37 15 35155120 35155120 + Missense_Mutation SNP C C A TCGA-BR-8369-01A-11D-2340-08 TCGA-BR-8369-10A-01D-2341-08 Untested Somatic Phase_I WXS none Illumina GAIIx 289a4096-4e30-4505-a60b-7c3a89da7ee6 acc4a8fb-74bb-4009-b4b7-23941bc1469a g.chr15:35155120C>A uc001ziv.2 - 33 4158 c.3977G>T c.(3976-3978)CGC>CTC p.R1326L NM_014691 NP_055506 O60306 AQR_HUMAN aquarius 1326 catalytic step 2 spliceosome RNA binding large_intestine(1) 1 Lung NSC(122;8.7e-10)|all_lung(180;1.47e-08) all cancers(64;4.34e-18)|GBM - Glioblastoma multiforme(113;4.59e-07)|BRCA - Breast invasive adenocarcinoma(123;0.0283) ATGAAGGGGGCGAGCTGTGAG 0.428000 DYX1C1 161582 broad.mit.edu 37 15 55724773 55724773 + Missense_Mutation SNP T T C TCGA-BR-8369-01A-11D-2340-08 TCGA-BR-8369-10A-01D-2341-08 Untested Somatic Phase_I WXS none Illumina GAIIx 289a4096-4e30-4505-a60b-7c3a89da7ee6 acc4a8fb-74bb-4009-b4b7-23941bc1469a g.chr15:55724773T>C uc002adc.2 - 9 1443 c.1075A>G c.(1075-1077)ACA>GCA p.T359A CCPG1_uc002acy.2_5'UTR|DYX1C1_uc010ugh.1_Intron|DYX1C1_uc010ugi.1_RNA|DYX1C1_uc002adb.2_Intron|DYX1C1_uc002add.2_Intron NM_130810 NP_570722 Q8WXU2 DYXC1_HUMAN dyslexia susceptibility 1 candidate 1 isoform a 359 neuron migration|regulation of estrogen receptor signaling pathway|regulation of proteasomal protein catabolic process cytoplasm|nucleus estrogen receptor binding skin(1) 1 all cancers(107;0.0118)|GBM - Glioblastoma multiforme(80;0.171) GCATTGTCTGTAACAGGTGGC 0.303000 ADAMTSL3 57188 broad.mit.edu 37 15 84611673 84611673 + Missense_Mutation SNP G G A TCGA-BR-8369-01A-11D-2340-08 TCGA-BR-8369-10A-01D-2341-08 Untested Somatic Phase_I WXS none Illumina GAIIx 289a4096-4e30-4505-a60b-7c3a89da7ee6 acc4a8fb-74bb-4009-b4b7-23941bc1469a g.chr15:84611673G>A uc002bjz.3 + 19 2553 c.2329G>A c.(2329-2331)GGG>AGG p.G777R ADAMTSL3_uc010bmt.1_Missense_Mutation_p.G777R|ADAMTSL3_uc010bmu.1_Missense_Mutation_p.G777R NM_207517 NP_997400 P82987 ATL3_HUMAN ADAMTS-like 3 precursor 777 TSP type-1 6. proteinaceous extracellular matrix metallopeptidase activity|zinc ion binding ovary(6)|central_nervous_system(5)|lung(5)|large_intestine(4)|breast(3)|skin(2)|kidney(1)|pancreas(1) 27 BRCA - Breast invasive adenocarcinoma(143;0.211) GACTTGTGGCGGGGGAACTCA 0.537000 RUNDC2A 84127 broad.mit.edu 37 16 12142361 12142361 + Missense_Mutation SNP C C T TCGA-BR-8369-01A-11D-2340-08 TCGA-BR-8369-10A-01D-2341-08 Untested Somatic Phase_I WXS none Illumina GAIIx 289a4096-4e30-4505-a60b-7c3a89da7ee6 acc4a8fb-74bb-4009-b4b7-23941bc1469a g.chr16:12142361C>T uc002dbw.1 + 7 694 c.632C>T c.(631-633)ACG>ATG p.T211M NM_032167 NP_115543 Q9HA26 RUN2A_HUMAN RUN domain containing 2A 211 ovary(1) 1 AAGGAGTCCACGCAAGGAGTG 0.547000 T CIITA PMBL|Hodgkin Lymphona| GTF3C1 2975 broad.mit.edu 37 16 27506768 27506768 + Missense_Mutation SNP C C T TCGA-BR-8369-01A-11D-2340-08 TCGA-BR-8369-10A-01D-2341-08 Untested Somatic Phase_I WXS none Illumina GAIIx 289a4096-4e30-4505-a60b-7c3a89da7ee6 acc4a8fb-74bb-4009-b4b7-23941bc1469a g.chr16:27506768C>T uc002dov.1 - 15 2436 c.2396G>A c.(2395-2397)CGC>CAC p.R799H GTF3C1_uc002dou.2_Missense_Mutation_p.R799H NM_001520 NP_001511 Q12789 TF3C1_HUMAN general transcription factor IIIC, polypeptide 799 transcription factor TFIIIC complex DNA binding|protein binding ovary(2)|pancreas(1)|breast(1)|skin(1) 5 CACCCGCAGGCGAGGCATTTT 0.522000 ZNF423 23090 broad.mit.edu 37 16 49672521 49672521 + Missense_Mutation SNP C C T TCGA-BR-8369-01A-11D-2340-08 TCGA-BR-8369-10A-01D-2341-08 Untested Somatic Phase_I WXS none Illumina GAIIx 289a4096-4e30-4505-a60b-7c3a89da7ee6 acc4a8fb-74bb-4009-b4b7-23941bc1469a g.chr16:49672521C>T uc002efs.2 - 5 840 c.542G>A c.(541-543)CGC>CAC p.R181H ZNF423_uc010vgn.1_Missense_Mutation_p.R64H NM_015069 NP_055884 Q2M1K9 ZN423_HUMAN zinc finger protein 423 181 C2H2-type 3. cell differentiation|negative regulation of transcription, DNA-dependent|nervous system development|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus zinc ion binding ovary(1)|lung(1)|kidney(1)|pancreas(1) 4 all_cancers(37;0.0155) GTGCCGGTCACGGCTCCTCTT 0.582000 IRX6 79190 broad.mit.edu 37 16 55361588 55361588 + Missense_Mutation SNP C C A TCGA-BR-8369-01A-11D-2340-08 TCGA-BR-8369-10A-01D-2341-08 Untested Somatic Phase_I WXS none Illumina GAIIx 289a4096-4e30-4505-a60b-7c3a89da7ee6 acc4a8fb-74bb-4009-b4b7-23941bc1469a g.chr16:55361588C>A uc002ehy.2 + 4 1037 c.504C>A c.(502-504)CAC>CAA p.H168Q IRX6_uc002ehx.2_Missense_Mutation_p.H168Q|IRX6_uc010ccb.1_RNA NM_024335 NP_077311 P78412 IRX6_HUMAN iroquois homeobox protein 6 168 Homeobox; TALE-type. nucleus sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity central_nervous_system(5)|ovary(1) 6 TCAACGAGCACCGCAAAAACC 0.607000 KIAA0174 9798 broad.mit.edu 37 16 71955270 71955270 + Missense_Mutation SNP G G A rs139513735 byFrequency TCGA-BR-8369-01A-11D-2340-08 TCGA-BR-8369-10A-01D-2341-08 Untested Somatic Phase_I WXS none Illumina GAIIx 289a4096-4e30-4505-a60b-7c3a89da7ee6 acc4a8fb-74bb-4009-b4b7-23941bc1469a g.chr16:71955270G>A uc002fbj.1 + 8 788 c.505G>A c.(505-507)GCC>ACC p.A169T KIAA0174_uc010cgh.1_Missense_Mutation_p.A169T|KIAA0174_uc002fbk.1_Missense_Mutation_p.A156T|KIAA0174_uc002fbm.1_Missense_Mutation_p.A156T|KIAA0174_uc002fbl.1_Missense_Mutation_p.A156T|KIAA0174_uc002fbn.1_Missense_Mutation_p.A8T|KIAA0174_uc010cgi.1_Intron|KIAA0174_uc010cgj.1_Missense_Mutation_p.A88T|KIAA0174_uc010vml.1_5'Flank|KIAA0174_uc010vmk.1_Missense_Mutation_p.A8T P53990 IST1_HUMAN SubName: Full=cDNA FLJ32696 fis, clone TESTI2000358; SubName: Full=cDNA FLJ77725; 156 Interaction with VPS37B.|Interaction with CHMP1A and CHMP1B. cell cycle|cell division cytoplasmic membrane-bounded vesicle|ER-Golgi intermediate compartment protein binding ovary(1) 1 GAGTGTGGAAGCCCCACCCAA 0.388000 FOXF1 2294 broad.mit.edu 37 16 86545019 86545019 + Missense_Mutation SNP G G A TCGA-BR-8369-01A-11D-2340-08 TCGA-BR-8369-10A-01D-2341-08 Untested Somatic Phase_I WXS none Illumina GAIIx 289a4096-4e30-4505-a60b-7c3a89da7ee6 acc4a8fb-74bb-4009-b4b7-23941bc1469a g.chr16:86545019G>A uc002fjl.2 + 1 887 c.844G>A c.(844-846)GCC>ACC p.A282T uc002fjk.1_5'Flank NM_001451 NP_001442 Q12946 FOXF1_HUMAN forkhead box F1 282 branching involved in open tracheal system development|cardiac left ventricle morphogenesis|embryonic ectodermal digestive tract morphogenesis|endocardial cushion development|in utero embryonic development|lung vasculature development|midgut development|pancreas development|positive regulation of transcription, DNA-dependent|regulation of sequence-specific DNA binding transcription factor activity|ureter development|venous blood vessel development transcription factor complex DNA bending activity|double-stranded DNA binding|promoter binding|sequence-specific DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|specific RNA polymerase II transcription factor activity|specific transcriptional repressor activity|transcription factor binding 0 CAACAGCGGCGCCTCTTATAT 0.726000 TP53 7157 broad.mit.edu 37 17 7579311 7579311 + Splice_Site SNP C C T TCGA-BR-8369-01A-11D-2340-08 TCGA-BR-8369-10A-01D-2341-08 Untested Somatic Phase_I WXS none Illumina GAIIx 289a4096-4e30-4505-a60b-7c3a89da7ee6 acc4a8fb-74bb-4009-b4b7-23941bc1469a g.chr17:7579311C>T uc002gim.2 - 4 569 c.375_splice c.e4+1 p.T125_splice TP53_uc002gig.1_Splice_Site_p.T125_splice|TP53_uc002gih.2_Splice_Site_p.T125_splice|TP53_uc010cne.1_5'Flank|TP53_uc010cnf.1_5'Flank|TP53_uc010cng.1_5'Flank|TP53_uc002gii.1_5'Flank|TP53_uc010cnh.1_Splice_Site_p.T125_splice|TP53_uc010cni.1_Splice_Site_p.T125_splice|TP53_uc002gij.2_Splice_Site_p.T125_splice|TP53_uc010cnj.1_5'Flank|TP53_uc002gin.2_Intron|TP53_uc002gio.2_Intron|TP53_uc010vug.1_Splice_Site_p.T86_splice NM_001126112 NP_001119584 P04637 P53_HUMAN tumor protein p53 isoform a 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.?(11)|p.0?(7)|p.V73fs*9(1)|p.Y126fs*11(1)|p.P13fs*18(1)|p.T125_Y126insX(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) GGGCAACTGACCGTGCAAGTC 0.532000 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) SLC5A10 125206 broad.mit.edu 37 17 18862516 18862516 + Silent SNP G G A TCGA-BR-8369-01A-11D-2340-08 TCGA-BR-8369-10A-01D-2341-08 Untested Somatic Phase_I WXS none Illumina GAIIx 289a4096-4e30-4505-a60b-7c3a89da7ee6 acc4a8fb-74bb-4009-b4b7-23941bc1469a g.chr17:18862516G>A uc002guu.1 + 3 293 c.252G>A c.(250-252)GCG>GCA p.A84A SLC5A10_uc002gur.1_Silent_p.A28A|SLC5A10_uc002gut.1_Silent_p.A84A|SLC5A10_uc002guv.1_Silent_p.A84A|SLC5A10_uc010vyl.1_Silent_p.A84A NM_001042450 NP_001035915 A0PJK1 SC5AA_HUMAN solute carrier family 5 (sodium/glucose 84 Helical; (Potential). sodium ion transport|transmembrane transport integral to membrane transporter activity ovary(1) 1 GCTCAGGCGCGGCAGGAGGTC 0.652000 C17orf98 388381 broad.mit.edu 37 17 36997469 36997469 + Silent SNP G G A TCGA-BR-8369-01A-11D-2340-08 TCGA-BR-8369-10A-01D-2341-08 Untested Somatic Phase_I WXS none Illumina GAIIx 289a4096-4e30-4505-a60b-7c3a89da7ee6 acc4a8fb-74bb-4009-b4b7-23941bc1469a g.chr17:36997469G>A uc002hqv.2 - 1 174 c.174C>T c.(172-174)CAC>CAT p.H58H NM_001080465 NP_001073934 A8MV24 CQ098_HUMAN hypothetical protein LOC388381 58 0 GCGGAACCACGTGACTCTGGA 0.592000 CCR7 1236 broad.mit.edu 37 17 38711389 38711389 + Missense_Mutation SNP G G A TCGA-BR-8369-01A-11D-2340-08 TCGA-BR-8369-10A-01D-2341-08 Untested Somatic Phase_I WXS none Illumina GAIIx 289a4096-4e30-4505-a60b-7c3a89da7ee6 acc4a8fb-74bb-4009-b4b7-23941bc1469a g.chr17:38711389G>A uc002huw.2 - 3 805 c.742C>T c.(742-744)CGC>TGC p.R248C NM_001838 NP_001829 P32248 CCR7_HUMAN chemokine (C-C motif) receptor 7 precursor 248 Cytoplasmic (Potential). cell maturation|immunological synapse formation|inflammatory response|interleukin-12 secretion|lymphocyte migration into lymph node|positive regulation of dendritic cell antigen processing and presentation|positive regulation of glycoprotein biosynthetic process|positive regulation of humoral immune response|positive regulation of hypersensitivity|positive regulation of interleukin-12 production|positive regulation of neutrophil chemotaxis|regulation of interferon-gamma production|regulation of interleukin-1 beta secretion|T cell costimulation integral to membrane|intracellular C-C chemokine receptor activity|chemokine (C-C motif) ligand 19 binding|chemokine (C-C motif) ligand 21 binding breast(1) 1 Breast(137;0.000496) AGCAGGGTGCGGATGATGACA 0.557000 MYCBPAP 84073 broad.mit.edu 37 17 48594780 48594780 + Missense_Mutation SNP C C A TCGA-BR-8369-01A-11D-2340-08 TCGA-BR-8369-10A-01D-2341-08 Untested Somatic Phase_I WXS none Illumina GAIIx 289a4096-4e30-4505-a60b-7c3a89da7ee6 acc4a8fb-74bb-4009-b4b7-23941bc1469a g.chr17:48594780C>A uc010wmr.1 + 3 622 c.460C>A c.(460-462)CCT>ACT p.P154T MYCBPAP_uc002iqx.2_Missense_Mutation_p.P154T|MYCBPAP_uc002iqz.2_RNA NM_032133 NP_115509 Q8TBZ2 MYBPP_HUMAN Myc-binding protein-associated protein 117 cell differentiation|multicellular organismal development|spermatogenesis|synaptic transmission cytoplasm|membrane protein binding urinary_tract(2)|skin(2)|ovary(1)|pancreas(1) 6 Breast(11;1.23e-18) BRCA - Breast invasive adenocarcinoma(22;1.23e-09) TCCTGCGAATCCTGATGAAGC 0.507000 CDH2 1000 broad.mit.edu 37 18 25572801 25572801 + Missense_Mutation SNP A A T TCGA-BR-8369-01A-11D-2340-08 TCGA-BR-8369-10A-01D-2341-08 Untested Somatic Phase_I WXS none Illumina GAIIx 289a4096-4e30-4505-a60b-7c3a89da7ee6 acc4a8fb-74bb-4009-b4b7-23941bc1469a g.chr18:25572801A>T uc002kwg.2 - 9 1621 c.1162T>A c.(1162-1164)TAT>AAT p.Y388N CDH2_uc010xbn.1_Missense_Mutation_p.Y357N NM_001792 NP_001783 P19022 CADH2_HUMAN cadherin 2, type 1 preproprotein 388 Extracellular (Potential).|Cadherin 3. adherens junction organization|cell junction assembly|positive regulation of muscle cell differentiation catenin complex|integral to membrane alpha-catenin binding|beta-catenin binding|calcium ion binding|gamma-catenin binding ovary(3)|lung(1) 4 ACTTCACCATAAAACTGCGAG 0.483000 TCEB3B 51224 broad.mit.edu 37 18 44559975 44559975 + Missense_Mutation SNP A A G TCGA-BR-8369-01A-11D-2340-08 TCGA-BR-8369-10A-01D-2341-08 Untested Somatic Phase_I WXS none Illumina GAIIx 289a4096-4e30-4505-a60b-7c3a89da7ee6 acc4a8fb-74bb-4009-b4b7-23941bc1469a g.chr18:44559975A>G uc002lcr.1 - 1 2014 c.1661T>C c.(1660-1662)GTT>GCT p.V554A KATNAL2_uc010dnq.1_Intron|KATNAL2_uc002lco.2_Intron|KATNAL2_uc002lcp.3_Intron NM_016427 NP_057511 Q8IYF1 ELOA2_HUMAN elongin A2 554 Activation domain (By similarity). regulation of transcription elongation, DNA-dependent|transcription from RNA polymerase II promoter integral to membrane|nucleus DNA binding ovary(2)|large_intestine(1)|pancreas(1) 4 AGGTTCAAGAACCCAGTAGGG 0.577000 TCEB3B 51224 broad.mit.edu 37 18 44559978 44559978 + Missense_Mutation SNP C C G TCGA-BR-8369-01A-11D-2340-08 TCGA-BR-8369-10A-01D-2341-08 Untested Somatic Phase_I WXS none Illumina GAIIx 289a4096-4e30-4505-a60b-7c3a89da7ee6 acc4a8fb-74bb-4009-b4b7-23941bc1469a g.chr18:44559978C>G uc002lcr.1 - 1 2011 c.1658G>C c.(1657-1659)TGG>TCG p.W553S KATNAL2_uc010dnq.1_Intron|KATNAL2_uc002lco.2_Intron|KATNAL2_uc002lcp.3_Intron NM_016427 NP_057511 Q8IYF1 ELOA2_HUMAN elongin A2 553 Activation domain (By similarity). regulation of transcription elongation, DNA-dependent|transcription from RNA polymerase II promoter integral to membrane|nucleus DNA binding ovary(2)|large_intestine(1)|pancreas(1) 4 TTCAAGAACCCAGTAGGGGAC 0.587000 CDH19 28513 broad.mit.edu 37 18 64172366 64172366 + Missense_Mutation SNP G G A TCGA-BR-8369-01A-11D-2340-08 TCGA-BR-8369-10A-01D-2341-08 Untested Somatic Phase_I WXS none Illumina GAIIx 289a4096-4e30-4505-a60b-7c3a89da7ee6 acc4a8fb-74bb-4009-b4b7-23941bc1469a g.chr18:64172366G>A uc002lkc.1 - 12 2140 c.2002C>T c.(2002-2004)CGC>TGC p.R668C CDH19_uc010dql.1_RNA|CDH19_uc010xey.1_3'UTR NM_021153 NP_066976 Q9H159 CAD19_HUMAN cadherin 19, type 2 preproprotein 668 Cytoplasmic (Potential). homophilic cell adhesion integral to membrane|plasma membrane calcium ion binding ovary(1)|skin(1) 2 Esophageal squamous(42;0.0132) CGAGTCTTGCGTTCCCGCATT 0.468000 DSEL 92126 broad.mit.edu 37 18 65181696 65181696 + Missense_Mutation SNP G G T TCGA-BR-8369-01A-11D-2340-08 TCGA-BR-8369-10A-01D-2341-08 Untested Somatic Phase_I WXS none Illumina GAIIx 289a4096-4e30-4505-a60b-7c3a89da7ee6 acc4a8fb-74bb-4009-b4b7-23941bc1469a g.chr18:65181696G>T uc002lke.1 - 2 1404 c.180C>A c.(178-180)TTC>TTA p.F60L NM_032160 NP_115536 Q8IZU8 DSEL_HUMAN dermatan sulfate epimerase-like 50 integral to membrane isomerase activity|sulfotransferase activity ovary(3)|upper_aerodigestive_tract(1)|large_intestine(1)|central_nervous_system(1) 6 Esophageal squamous(42;0.129) GGTTGGGTCTGAAATCTTGCA 0.373000 ABCA7 10347 broad.mit.edu 37 19 1056917 1056917 + Missense_Mutation SNP C C T TCGA-BR-8369-01A-11D-2340-08 TCGA-BR-8369-10A-01D-2341-08 Untested Somatic Phase_I WXS none Illumina GAIIx 289a4096-4e30-4505-a60b-7c3a89da7ee6 acc4a8fb-74bb-4009-b4b7-23941bc1469a g.chr19:1056917C>T uc002lqw.3 + 34 4829 c.4598C>T c.(4597-4599)TCG>TTG p.S1533L ABCA7_uc002lqy.2_Missense_Mutation_p.S4L|ABCA7_uc010dsc.2_5'Flank NM_019112 NP_061985 Q8IZY2 ABCA7_HUMAN ATP-binding cassette, sub-family A, member 7 1533 Extracellular (By similarity). phagocytosis|transmembrane transport ATP-binding cassette (ABC) transporter complex|endosome membrane|Golgi membrane|integral to membrane|plasma membrane ATP binding|ATPase activity|transporter activity pancreas(7)|ovary(1)|central_nervous_system(1) 9 Acute lymphoblastic leukemia(61;2.53e-14)|all_hematologic(61;8.18e-10)|Lung NSC(49;1.04e-05)|all_lung(49;1.53e-05)|Breast(49;9.42e-05)|Hepatocellular(1079;0.137) UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18) ATGGCCTCCTCGGTGGACGTC 0.567000 ACTL9 284382 broad.mit.edu 37 19 8808001 8808001 + Missense_Mutation SNP C C T TCGA-BR-8369-01A-11D-2340-08 TCGA-BR-8369-10A-01D-2341-08 Untested Somatic Phase_I WXS none Illumina GAIIx 289a4096-4e30-4505-a60b-7c3a89da7ee6 acc4a8fb-74bb-4009-b4b7-23941bc1469a g.chr19:8808001C>T uc002mkl.2 - 1 1172 c.1051G>A c.(1051-1053)GAG>AAG p.E351K NM_178525 NP_848620 Q8TC94 ACTL9_HUMAN actin-like 9 351 cytoplasm|cytoskeleton large_intestine(2)|pancreas(1) 3 AAGCGACCCTCGAAGCCGGTG 0.647000 MUC16 94025 broad.mit.edu 37 19 9071824 9071824 + Missense_Mutation SNP T T C TCGA-BR-8369-01A-11D-2340-08 TCGA-BR-8369-10A-01D-2341-08 Untested Somatic Phase_I WXS none Illumina GAIIx 289a4096-4e30-4505-a60b-7c3a89da7ee6 acc4a8fb-74bb-4009-b4b7-23941bc1469a g.chr19:9071824T>C uc002mkp.2 - 3 15826 c.15622A>G c.(15622-15624)AGT>GGT p.S5208G NM_024690 NP_078966 Q8WXI7 MUC16_HUMAN mucin 16 5210 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 AGTAGAAAACTTGTGTCCGTG 0.458000 ZNF799 90576 broad.mit.edu 37 19 12502756 12502756 + Silent SNP G G A TCGA-BR-8369-01A-11D-2340-08 TCGA-BR-8369-10A-01D-2341-08 Untested Somatic Phase_I WXS none Illumina GAIIx 289a4096-4e30-4505-a60b-7c3a89da7ee6 acc4a8fb-74bb-4009-b4b7-23941bc1469a g.chr19:12502756G>A uc010dyt.2 - 4 606 c.456C>T c.(454-456)TAC>TAT p.Y152Y ZNF799_uc002mts.3_Intron NM_001080821 NP_001074290 Q96GE5 ZN799_HUMAN zinc finger protein 799 152 C2H2-type 1; degenerate. regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding breast(3)|ovary(2)|skin(1) 6 GTGAGTTGTGGTAACTGAAGG 0.413000 ZNF253 56242 broad.mit.edu 37 19 20002426 20002426 + Missense_Mutation SNP G G C TCGA-BR-8369-01A-11D-2340-08 TCGA-BR-8369-10A-01D-2341-08 Untested Somatic Phase_I WXS none Illumina GAIIx 289a4096-4e30-4505-a60b-7c3a89da7ee6 acc4a8fb-74bb-4009-b4b7-23941bc1469a g.chr19:20002426G>C uc002noj.2 + 4 462 c.370G>C c.(370-372)GTG>CTG p.V124L ZNF253_uc002nok.2_Missense_Mutation_p.V48L|ZNF253_uc002nol.2_RNA NM_021047 NP_066385 O75346 ZN253_HUMAN zinc finger protein 253 124 negative regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding 0 TGAGCATAAGGTGCACAAAGG 0.338000 FAM98C 147965 broad.mit.edu 37 19 38899405 38899405 + Silent SNP C C T TCGA-BR-8369-01A-11D-2340-08 TCGA-BR-8369-10A-01D-2341-08 Untested Somatic Phase_I WXS none Illumina GAIIx 289a4096-4e30-4505-a60b-7c3a89da7ee6 acc4a8fb-74bb-4009-b4b7-23941bc1469a g.chr19:38899405C>T uc002oin.1 + 8 952 c.933C>T c.(931-933)AAC>AAT p.N311N FAM98C_uc002oio.1_Silent_p.N229N|FAM98C_uc010xtz.1_Missense_Mutation_p.R178C NM_174905 NP_777565 Q17RN3 FA98C_HUMAN hypothetical protein LOC147965 311 skin(1) 1 all_cancers(60;3.95e-06) Lung(45;0.00172)|LUSC - Lung squamous cell carcinoma(53;0.00272) TTATGGGCAACGTTCCAGACC 0.572000 PSG6 5675 broad.mit.edu 37 19 43420503 43420503 + Missense_Mutation SNP C C G TCGA-BR-8369-01A-11D-2340-08 TCGA-BR-8369-10A-01D-2341-08 Untested Somatic Phase_I WXS none Illumina GAIIx 289a4096-4e30-4505-a60b-7c3a89da7ee6 acc4a8fb-74bb-4009-b4b7-23941bc1469a g.chr19:43420503C>G uc002ovj.1 - 2 253 c.201G>C c.(199-201)TGG>TGC p.W67C PSG3_uc002ouf.2_Intron|PSG11_uc002ouw.2_Intron|PSG7_uc002ous.1_Intron|PSG7_uc002out.1_Intron|PSG10_uc002ouv.1_Intron|PSG6_uc002ovh.1_Intron|PSG6_uc002ovi.2_Intron|PSG6_uc010xwk.1_Intron|PSG11_uc002ovk.1_Intron|PSG6_uc002ovf.1_Missense_Mutation_p.W67C|PSG6_uc002ovg.1_Missense_Mutation_p.W67C NM_002782 NP_002773 Q00889 PSG6_HUMAN pregnancy specific beta-1-glycoprotein 6 isoform 67 Ig-like V-type. female pregnancy extracellular region ovary(1)|skin(1) 2 Prostate(69;0.00899) GCCCTTTGTACCAGATGTAGC 0.438000 BCAM 4059 broad.mit.edu 37 19 45322967 45322967 + Missense_Mutation SNP C C T TCGA-BR-8369-01A-11D-2340-08 TCGA-BR-8369-10A-01D-2341-08 Untested Somatic Phase_I WXS none Illumina GAIIx 289a4096-4e30-4505-a60b-7c3a89da7ee6 acc4a8fb-74bb-4009-b4b7-23941bc1469a g.chr19:45322967C>T uc002ozu.2 + 13 1791 c.1747C>T c.(1747-1749)CGG>TGG p.R583W BCAM_uc002ozt.1_Missense_Mutation_p.R583W NM_005581 NP_005572 P50895 BCAM_HUMAN basal cell adhesion molecule isoform 1 583 Cytoplasmic (Potential). cell-matrix adhesion integral to plasma membrane laminin binding|laminin receptor activity skin(1) 1 Lung NSC(12;0.000789)|all_lung(12;0.00218) Ovarian(192;0.0728)|all_neural(266;0.112) CCGCCAGCGGCGGGAGAAGGG 0.507000 RASIP1 54922 broad.mit.edu 37 19 49224062 49224062 + Missense_Mutation SNP G G C TCGA-BR-8369-01A-11D-2340-08 TCGA-BR-8369-10A-01D-2341-08 Untested Somatic Phase_I WXS none Illumina GAIIx 289a4096-4e30-4505-a60b-7c3a89da7ee6 acc4a8fb-74bb-4009-b4b7-23941bc1469a g.chr19:49224062G>C uc002pki.2 - 12 3082 c.2885C>G c.(2884-2886)TCT>TGT p.S962C MAMSTR_uc002pkg.2_5'Flank|RASIP1_uc002pkh.2_Missense_Mutation_p.S223C NM_017805 NP_060275 Q5U651 RAIN_HUMAN Ras-interacting protein 1 962 signal transduction Golgi stack|perinuclear region of cytoplasm pancreas(1) 1 all_lung(116;4.89e-06)|all_epithelial(76;7.04e-06)|Lung NSC(112;9.34e-06)|all_neural(266;0.0189)|Ovarian(192;0.0261) OV - Ovarian serous cystadenocarcinoma(262;9.98e-05)|all cancers(93;0.000272)|Epithelial(262;0.0155)|GBM - Glioblastoma multiforme(486;0.0222) TTCTCAAGGAGACGTGGCCAC 0.602000 ZNF470 388566 broad.mit.edu 37 19 57088195 57088195 + Nonsense_Mutation SNP C C A TCGA-BR-8369-01A-11D-2340-08 TCGA-BR-8369-10A-01D-2341-08 Untested Somatic Phase_I WXS none Illumina GAIIx 289a4096-4e30-4505-a60b-7c3a89da7ee6 acc4a8fb-74bb-4009-b4b7-23941bc1469a g.chr19:57088195C>A uc002qnl.3 + 6 1074 c.398C>A c.(397-399)TCA>TAA p.S133* ZNF470_uc010etn.2_Intron NM_001001668 NP_001001668 Q6ECI4 ZN470_HUMAN zinc finger protein 470 133 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding ovary(1)|pancreas(1) 2 Colorectal(82;5.46e-05)|Ovarian(87;0.0822)|Renal(1328;0.157) GBM - Glioblastoma multiforme(193;0.0294) CTTGAATGTTCAACATTAGGG 0.363000 ZNF772 400720 broad.mit.edu 37 19 57988660 57988660 + Silent SNP C C T TCGA-BR-8369-01A-11D-2340-08 TCGA-BR-8369-10A-01D-2341-08 Untested Somatic Phase_I WXS none Illumina GAIIx 289a4096-4e30-4505-a60b-7c3a89da7ee6 acc4a8fb-74bb-4009-b4b7-23941bc1469a g.chr19:57988660C>T uc002qot.2 - 1 279 c.18G>A c.(16-18)CCG>CCA p.P6P ZNF547_uc002qpm.3_Intron|ZNF772_uc010ygy.1_Silent_p.P6P|ZNF772_uc010ygz.1_5'UTR|ZNF772_uc010yha.1_Silent_p.P6P|ZNF772_uc002qou.2_5'UTR NM_001024596 NP_001019767 Q68DY9 ZN772_HUMAN zinc finger protein 772 isoform 1 6 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding 0 Colorectal(82;0.000256)|all_neural(62;0.0577)|Ovarian(87;0.221) UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.026)|Lung(386;0.174) CCGGGCCCATCGGCTCAGCCG 0.637000 OREG0025695 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) ZNF586 54807 broad.mit.edu 37 19 58290568 58290568 + Missense_Mutation SNP C C T TCGA-BR-8369-01A-11D-2340-08 TCGA-BR-8369-10A-01D-2341-08 Untested Somatic Phase_I WXS none Illumina GAIIx 289a4096-4e30-4505-a60b-7c3a89da7ee6 acc4a8fb-74bb-4009-b4b7-23941bc1469a g.chr19:58290568C>T uc002qqd.2 + 3 799 c.613C>T c.(613-615)CGT>TGT p.R205C ZNF587_uc002qqb.2_Intron|ZNF586_uc002qqe.2_Silent_p.S162S|ZNF586_uc010euh.2_Missense_Mutation_p.R162C|ZNF586_uc002qqf.1_Intron NM_017652 NP_060122 Q9NXT0 ZN586_HUMAN zinc finger protein 586 205 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding ovary(2) 2 Colorectal(82;5.46e-05)|all_neural(62;0.0218)|Breast(46;0.0389)|Ovarian(87;0.0443)|Renal(1328;0.157) UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.026) TGGAGCAAAGCGTTATGAATG 0.428000 KCNS3 3790 broad.mit.edu 37 2 18113498 18113498 + Missense_Mutation SNP A A G TCGA-BR-8369-01A-11D-2340-08 TCGA-BR-8369-10A-01D-2341-08 Untested Somatic Phase_I WXS none Illumina GAIIx 289a4096-4e30-4505-a60b-7c3a89da7ee6 acc4a8fb-74bb-4009-b4b7-23941bc1469a g.chr2:18113498A>G uc002rcv.2 + 3 1674 c.1223A>G c.(1222-1224)AAG>AGG p.K408R KCNS3_uc002rcw.2_Missense_Mutation_p.K408R NM_002252 NP_002243 Q9BQ31 KCNS3_HUMAN potassium voltage-gated channel 408 Cytoplasmic (Potential). energy reserve metabolic process|regulation of insulin secretion Golgi apparatus|voltage-gated potassium channel complex delayed rectifier potassium channel activity|potassium channel regulator activity ovary(4) 4 Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.158) ATCTTCAACAAGTTTTCCAAG 0.502000 APOB 338 broad.mit.edu 37 2 21226058 21226058 + Missense_Mutation SNP C C T TCGA-BR-8369-01A-11D-2340-08 TCGA-BR-8369-10A-01D-2341-08 Untested Somatic Phase_I WXS none Illumina GAIIx 289a4096-4e30-4505-a60b-7c3a89da7ee6 acc4a8fb-74bb-4009-b4b7-23941bc1469a g.chr2:21226058C>T uc002red.2 - 29 12364 c.12236G>A c.(12235-12237)GGG>GAG p.G4079E NM_000384 NP_000375 P04114 APOB_HUMAN apolipoprotein B precursor 4079 cholesterol homeostasis|cholesterol metabolic process|leukocyte migration|low-density lipoprotein particle clearance|low-density lipoprotein particle remodeling|platelet activation|positive regulation of cholesterol storage|positive regulation of macrophage derived foam cell differentiation|receptor-mediated endocytosis|response to virus chylomicron remnant|clathrin-coated endocytic vesicle membrane|endoplasmic reticulum lumen|endoplasmic reticulum membrane|endosome lumen|endosome membrane|intermediate-density lipoprotein particle|low-density lipoprotein particle|mature chylomicron|microsome|plasma membrane|very-low-density lipoprotein particle cholesterol transporter activity|enzyme binding|heparin binding|low-density lipoprotein particle receptor binding|phospholipid binding|protein heterodimerization activity ovary(11)|skin(9)|central_nervous_system(3)|large_intestine(2)|upper_aerodigestive_tract(1)|pancreas(1) 27 Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215) Atorvastatin(DB01076) ATAAAGGACCCCTGTGGCCTT 0.473000 C2orf71 388939 broad.mit.edu 37 2 29297042 29297042 + Missense_Mutation SNP C C T TCGA-BR-8369-01A-11D-2340-08 TCGA-BR-8369-10A-01D-2341-08 Untested Somatic Phase_I WXS none Illumina GAIIx 289a4096-4e30-4505-a60b-7c3a89da7ee6 acc4a8fb-74bb-4009-b4b7-23941bc1469a g.chr2:29297042C>T uc002rmt.1 - 1 86 c.86G>A c.(85-87)CGG>CAG p.R29Q NM_001029883 NP_001025054 A6NGG8 CB071_HUMAN hypothetical protein LOC388939 29 response to stimulus|visual perception photoreceptor outer segment skin(1) 1 ACATCCTGGCCGAATTGCTTT 0.512000 PIGF 5281 broad.mit.edu 37 2 46842221 46842221 + Missense_Mutation SNP G G A TCGA-BR-8369-01A-11D-2340-08 TCGA-BR-8369-10A-01D-2341-08 Untested Somatic Phase_I WXS none Illumina GAIIx 289a4096-4e30-4505-a60b-7c3a89da7ee6 acc4a8fb-74bb-4009-b4b7-23941bc1469a g.chr2:46842221G>A uc002rvd.2 - 2 247 c.83C>T c.(82-84)TCA>TTA p.S28L PIGF_uc002rvc.2_Missense_Mutation_p.S28L|CRIPT_uc002rve.2_5'Flank NM_002643 NP_002634 Q07326 PIGF_HUMAN phosphatidylinositol glycan anchor biosynthesis, 28 Helical; (Potential). C-terminal protein lipidation|preassembly of GPI anchor in ER membrane endoplasmic reticulum membrane|integral to membrane ethanolaminephosphotransferase activity 0 all_hematologic(82;0.151)|Acute lymphoblastic leukemia(82;0.175) LUSC - Lung squamous cell carcinoma(58;0.114) CAAGAAGAGTGATGGAATGAA 0.353000 PROKR1 10887 broad.mit.edu 37 2 68882618 68882618 + Silent SNP T T G TCGA-BR-8369-01A-11D-2340-08 TCGA-BR-8369-10A-01D-2341-08 Untested Somatic Phase_I WXS none Illumina GAIIx 289a4096-4e30-4505-a60b-7c3a89da7ee6 acc4a8fb-74bb-4009-b4b7-23941bc1469a g.chr2:68882618T>G uc010yqj.1 + 2 1092 c.1092T>G c.(1090-1092)TCT>TCG p.S364S PROKR1_uc002ses.2_RNA NM_138964 NP_620414 Q8TCW9 PKR1_HUMAN G protein-coupled receptor 73 364 Cytoplasmic (Potential). integral to membrane|plasma membrane neuropeptide Y receptor activity ovary(1) 1 GGAAGGCTTCTTACAATGGCG 0.502000 ANTXR1 84168 broad.mit.edu 37 2 69297834 69297834 + Missense_Mutation SNP A A C TCGA-BR-8369-01A-11D-2340-08 TCGA-BR-8369-10A-01D-2341-08 Untested Somatic Phase_I WXS none Illumina GAIIx 289a4096-4e30-4505-a60b-7c3a89da7ee6 acc4a8fb-74bb-4009-b4b7-23941bc1469a g.chr2:69297834A>C uc002sfg.2 + 4 708 c.352A>C c.(352-354)ACT>CCT p.T118P ANTXR1_uc002sfe.2_Missense_Mutation_p.T118P|ANTXR1_uc002sff.2_Missense_Mutation_p.T118P|ANTXR1_uc002sfd.2_Missense_Mutation_p.T118P NM_032208 NP_115584 Q9H6X2 ANTR1_HUMAN anthrax toxin receptor 1 isoform 1 precursor 118 Extracellular (Potential).|VWFA. Divalent metal cation (By similarity). actin cytoskeleton reorganization|substrate adhesion-dependent cell spreading filopodium membrane|integral to membrane|lamellipodium membrane actin filament binding|collagen binding|metal ion binding|protein binding|transmembrane receptor activity ovary(2)|skin(2) 4 AGGAGGAGACACTTACATGCA 0.353000 Familial_Infantile_Hemangioma ST6GAL2 84620 broad.mit.edu 37 2 107446605 107446605 + Missense_Mutation SNP T T G TCGA-BR-8369-01A-11D-2340-08 TCGA-BR-8369-10A-01D-2341-08 Untested Somatic Phase_I WXS none Illumina GAIIx 289a4096-4e30-4505-a60b-7c3a89da7ee6 acc4a8fb-74bb-4009-b4b7-23941bc1469a g.chr2:107446605T>G uc002tdq.2 - 5 1354 c.1235A>C c.(1234-1236)AAA>ACA p.K412T ST6GAL2_uc002tdr.2_Missense_Mutation_p.K412T|ST6GAL2_uc002tds.3_Missense_Mutation_p.K412T NM_001142351 NP_001135823 Q96JF0 SIAT2_HUMAN ST6 beta-galactosamide 412 Lumenal (Potential). growth|multicellular organismal development|oligosaccharide metabolic process|protein glycosylation Golgi cisterna membrane|integral to Golgi membrane beta-galactoside alpha-2,6-sialyltransferase activity pancreas(6)|ovary(4)|skin(1) 11 CCATATAAATTTAGGATGAAG 0.378000 MARCO 8685 broad.mit.edu 37 2 119699881 119699881 + Missense_Mutation SNP G G A TCGA-BR-8369-01A-11D-2340-08 TCGA-BR-8369-10A-01D-2341-08 Untested Somatic Phase_I WXS none Illumina GAIIx 289a4096-4e30-4505-a60b-7c3a89da7ee6 acc4a8fb-74bb-4009-b4b7-23941bc1469a g.chr2:119699881G>A uc002tln.1 + 1 137 c.5G>A c.(4-6)AGA>AAA p.R2K MARCO_uc010yyf.1_5'UTR NM_006770 NP_006761 Q9UEW3 MARCO_HUMAN macrophage receptor with collagenous structure 2 Cytoplasmic (Potential). cell surface receptor linked signaling pathway|innate immune response collagen|integral to plasma membrane pattern recognition receptor activity|scavenger receptor activity ovary(3)|skin(2)|central_nervous_system(1) 6 TTGGCAATGAGAAATAAGAAA 0.453000 NCKAP5 344148 broad.mit.edu 37 2 133542677 133542677 + Silent SNP G G T TCGA-BR-8369-01A-11D-2340-08 TCGA-BR-8369-10A-01D-2341-08 Untested Somatic Phase_I WXS none Illumina GAIIx 289a4096-4e30-4505-a60b-7c3a89da7ee6 acc4a8fb-74bb-4009-b4b7-23941bc1469a g.chr2:133542677G>T uc002ttp.2 - 14 2081 c.1707C>A c.(1705-1707)GGC>GGA p.G569G NCKAP5_uc002ttq.2_Intron NM_207363 NP_997246 O14513 NCKP5_HUMAN Nck-associated protein 5 isoform 1 569 protein binding 0 TGCGGCCATGGCCTTGGCCCT 0.547000 LRP1B 53353 broad.mit.edu 37 2 141081582 141081582 + Nonsense_Mutation SNP C C A TCGA-BR-8369-01A-11D-2340-08 TCGA-BR-8369-10A-01D-2341-08 Untested Somatic Phase_I WXS none Illumina GAIIx 289a4096-4e30-4505-a60b-7c3a89da7ee6 acc4a8fb-74bb-4009-b4b7-23941bc1469a g.chr2:141081582C>A uc002tvj.1 - 81 13366 c.12394G>T c.(12394-12396)GGA>TGA p.G4132* NM_018557 NP_061027 Q9NZR2 LRP1B_HUMAN low density lipoprotein-related protein 1B 4132 Extracellular (Potential). protein transport|receptor-mediated endocytosis integral to membrane calcium ion binding lung(17)|skin(12)|ovary(12)|pancreas(3)|upper_aerodigestive_tract(2)|central_nervous_system(2)|liver(1)|kidney(1) 50 all_cancers(3;1.1e-60)|all_epithelial(3;1.94e-59)|all_lung(3;1.09e-24)|Lung NSC(3;5.65e-24)|Esophageal squamous(3;5.41e-13)|Renal(3;0.000147)|Breast(3;0.000527)|Hepatocellular(3;0.011)|all_neural(3;0.014)|Colorectal(150;0.101) UCEC - Uterine corpus endometrioid carcinoma (2;0.00139)|Epithelial(1;1.25e-24)|all cancers(1;8.86e-24)|OV - Ovarian serous cystadenocarcinoma(1;2.45e-12)|LUSC - Lung squamous cell carcinoma(1;2.97e-10)|Lung(1;6.05e-09)|BRCA - Breast invasive adenocarcinoma(221;0.0103) TTTTTAGGTCCTGCTCCATAT 0.299000 TSP Lung(27;0.18) LRP1B 53353 broad.mit.edu 37 2 141806706 141806706 + Missense_Mutation SNP A A C TCGA-BR-8369-01A-11D-2340-08 TCGA-BR-8369-10A-01D-2341-08 Untested Somatic Phase_I WXS none Illumina GAIIx 289a4096-4e30-4505-a60b-7c3a89da7ee6 acc4a8fb-74bb-4009-b4b7-23941bc1469a g.chr2:141806706A>C uc002tvj.1 - 11 2610 c.1638T>G c.(1636-1638)GAT>GAG p.D546E LRP1B_uc010fnl.1_Intron NM_018557 NP_061027 Q9NZR2 LRP1B_HUMAN low density lipoprotein-related protein 1B 546 Extracellular (Potential). protein transport|receptor-mediated endocytosis integral to membrane calcium ion binding lung(17)|skin(12)|ovary(12)|pancreas(3)|upper_aerodigestive_tract(2)|central_nervous_system(2)|liver(1)|kidney(1) 50 all_cancers(3;1.1e-60)|all_epithelial(3;1.94e-59)|all_lung(3;1.09e-24)|Lung NSC(3;5.65e-24)|Esophageal squamous(3;5.41e-13)|Renal(3;0.000147)|Breast(3;0.000527)|Hepatocellular(3;0.011)|all_neural(3;0.014)|Colorectal(150;0.101) UCEC - Uterine corpus endometrioid carcinoma (2;0.00139)|Epithelial(1;1.25e-24)|all cancers(1;8.86e-24)|OV - Ovarian serous cystadenocarcinoma(1;2.45e-12)|LUSC - Lung squamous cell carcinoma(1;2.97e-10)|Lung(1;6.05e-09)|BRCA - Breast invasive adenocarcinoma(221;0.0103) TCATGTATTCATCAGCTATCT 0.418000 TSP Lung(27;0.18) TBR1 10716 broad.mit.edu 37 2 162275557 162275557 + Missense_Mutation SNP C C T TCGA-BR-8369-01A-11D-2340-08 TCGA-BR-8369-10A-01D-2341-08 Untested Somatic Phase_I WXS none Illumina GAIIx 289a4096-4e30-4505-a60b-7c3a89da7ee6 acc4a8fb-74bb-4009-b4b7-23941bc1469a g.chr2:162275557C>T uc002ubw.1 + 4 1426 c.1124C>T c.(1123-1125)ACG>ATG p.T375M TBR1_uc010foy.2_Missense_Mutation_p.T88M NM_006593 NP_006584 Q16650 TBR1_HUMAN T-box, brain, 1 375 T-box. nucleus DNA binding|sequence-specific DNA binding transcription factor activity ovary(1)|central_nervous_system(1) 2 TACCAGAACACGGATGTAAGG 0.627000 TTN 7273 broad.mit.edu 37 2 179427323 179427323 + Missense_Mutation SNP A A G TCGA-BR-8369-01A-11D-2340-08 TCGA-BR-8369-10A-01D-2341-08 Untested Somatic Phase_I WXS none Illumina GAIIx 289a4096-4e30-4505-a60b-7c3a89da7ee6 acc4a8fb-74bb-4009-b4b7-23941bc1469a g.chr2:179427323A>G uc010zfg.1 - 275 76056 c.75832T>C c.(75832-75834)TAT>CAT p.Y25278H uc002umo.2_Intron|uc002ump.1_Intron|TTN_uc010zfh.1_Missense_Mutation_p.Y18973H|TTN_uc010zfi.1_Missense_Mutation_p.Y18906H|TTN_uc010zfj.1_Missense_Mutation_p.Y18781H NM_133378 NP_596869 Q8WZ42 TITIN_HUMAN titin isoform N2-A 26205 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) CCAATCCCATATTCATTGGAA 0.408000 CALCRL 10203 broad.mit.edu 37 2 188211006 188211006 + Missense_Mutation SNP C C A TCGA-BR-8369-01A-11D-2340-08 TCGA-BR-8369-10A-01D-2341-08 Untested Somatic Phase_I WXS none Illumina GAIIx 289a4096-4e30-4505-a60b-7c3a89da7ee6 acc4a8fb-74bb-4009-b4b7-23941bc1469a g.chr2:188211006C>A uc002upv.3 - 15 1839 c.1291G>T c.(1291-1293)GGT>TGT p.G431C CALCRL_uc010frt.2_Missense_Mutation_p.G431C NM_005795 NP_005786 Q16602 CALRL_HUMAN calcitonin receptor-like precursor 431 Cytoplasmic (Potential). integral to plasma membrane lung(3)|ovary(1) 4 OV - Ovarian serous cystadenocarcinoma(117;0.0554)|Epithelial(96;0.227) TGACTATAACCTGGACCATCA 0.338000 MAP2 4133 broad.mit.edu 37 2 210561456 210561456 + Missense_Mutation SNP A A C TCGA-BR-8369-01A-11D-2340-08 TCGA-BR-8369-10A-01D-2341-08 Untested Somatic Phase_I WXS none Illumina GAIIx 289a4096-4e30-4505-a60b-7c3a89da7ee6 acc4a8fb-74bb-4009-b4b7-23941bc1469a g.chr2:210561456A>C uc002vde.1 + 8 4619 c.4371A>C c.(4369-4371)GAA>GAC p.E1457D MAP2_uc002vdd.1_Intron|MAP2_uc002vdf.1_Intron|MAP2_uc002vdg.1_Intron|MAP2_uc002vdh.1_Intron|MAP2_uc002vdi.1_Missense_Mutation_p.E1453D NM_002374 NP_002365 P11137 MAP2_HUMAN microtubule-associated protein 2 isoform 1 1457 Calmodulin-binding (Potential). central nervous system neuron development|dendrite morphogenesis|negative regulation of microtubule depolymerization cytoplasm|microtubule|microtubule associated complex beta-dystroglycan binding|calmodulin binding|structural molecule activity ovary(9)|upper_aerodigestive_tract(2)|large_intestine(2)|pancreas(2)|central_nervous_system(1)|skin(1) 17 Hepatocellular(293;0.137)|Lung NSC(271;0.163)|Renal(323;0.202) UCEC - Uterine corpus endometrioid carcinoma (47;6.64e-05)|Epithelial(149;3.12e-100)|all cancers(144;6.88e-91)|Lung(261;0.0624)|LUSC - Lung squamous cell carcinoma(261;0.0662)|STAD - Stomach adenocarcinoma(1183;0.18) Estramustine(DB01196) CCAGAGATGAAGTGAGAAGGA 0.343000 FAM124B 79843 broad.mit.edu 37 2 225266233 225266233 + Missense_Mutation SNP C C T TCGA-BR-8369-01A-11D-2340-08 TCGA-BR-8369-10A-01D-2341-08 Untested Somatic Phase_I WXS none Illumina GAIIx 289a4096-4e30-4505-a60b-7c3a89da7ee6 acc4a8fb-74bb-4009-b4b7-23941bc1469a g.chr2:225266233C>T uc002vnx.2 - 1 479 c.253G>A c.(253-255)GTC>ATC p.V85I FAM124B_uc002vnw.2_Missense_Mutation_p.V85I NM_001122779 NP_001116251 Q9H5Z6 F124B_HUMAN hypothetical protein LOC79843 isoform a 85 protein binding ovary(2) 2 Renal(207;0.0112)|all_lung(227;0.0126)|Lung NSC(271;0.0161)|all_hematologic(139;0.138) Epithelial(121;4.4e-10)|all cancers(144;2.02e-07)|Lung(261;0.00766)|LUSC - Lung squamous cell carcinoma(224;0.00825) GAGTCCAGGACGCGAAATAGC 0.552000 PER2 8864 broad.mit.edu 37 2 239170935 239170935 + Missense_Mutation SNP C C A TCGA-BR-8369-01A-11D-2340-08 TCGA-BR-8369-10A-01D-2341-08 Untested Somatic Phase_I WXS none Illumina GAIIx 289a4096-4e30-4505-a60b-7c3a89da7ee6 acc4a8fb-74bb-4009-b4b7-23941bc1469a g.chr2:239170935C>A uc002vyc.2 - 11 1441 c.1204G>T c.(1204-1206)GCC>TCC p.A402S PER2_uc010znv.1_Missense_Mutation_p.A402S|PER2_uc010znw.1_Missense_Mutation_p.A402S|PER2_uc010fyx.1_Missense_Mutation_p.R366L NM_022817 NP_073728 O15055 PER2_HUMAN period 2 402 PAC. circadian rhythm|regulation of transcription, DNA-dependent|transcription, DNA-dependent cytoplasm|nucleus protein binding|signal transducer activity upper_aerodigestive_tract(1)|breast(1) 2 Breast(86;7.61e-05)|Renal(207;0.00183)|Ovarian(221;0.0423)|all_lung(227;0.114)|all_hematologic(139;0.158)|Melanoma(123;0.203)|Lung NSC(271;0.223)|Hepatocellular(293;0.244) Epithelial(121;6.84e-24)|OV - Ovarian serous cystadenocarcinoma(60;9.73e-12)|Kidney(56;3.04e-09)|KIRC - Kidney renal clear cell carcinoma(57;6.5e-08)|BRCA - Breast invasive adenocarcinoma(100;6.77e-05)|Lung(119;0.00941)|LUSC - Lung squamous cell carcinoma(224;0.0161) CCGTTCCGGGCGCGAAACCGA 0.537000 PPP1R7 5510 broad.mit.edu 37 2 242089932 242089932 + Missense_Mutation SNP G G A TCGA-BR-8369-01A-11D-2340-08 TCGA-BR-8369-10A-01D-2341-08 Untested Somatic Phase_I WXS none Illumina GAIIx 289a4096-4e30-4505-a60b-7c3a89da7ee6 acc4a8fb-74bb-4009-b4b7-23941bc1469a g.chr2:242089932G>A uc002wat.1 + 1 37 c.22G>A c.(22-24)GGG>AGG p.G8R PPP1R7_uc010fzm.1_Intron|PPP1R7_uc002war.2_Missense_Mutation_p.G8R|PPP1R7_uc002was.2_Missense_Mutation_p.G8R|PPP1R7_uc002wau.1_Missense_Mutation_p.G8R|PASK_uc002wao.1_5'Flank|PASK_uc010zom.1_5'Flank|PASK_uc010fzl.1_5'Flank|PASK_uc010zon.1_5'Flank|PASK_uc002waq.2_5'Flank NM_002712 NP_002703 Q15435 PP1R7_HUMAN protein phosphatase 1, regulatory subunit 7 8 cytoplasm|nucleus protein binding|protein phosphatase type 1 regulator activity ovary(3) 3 all_cancers(19;6.1e-33)|all_epithelial(40;1.07e-13)|Breast(86;0.000141)|Renal(207;0.00528)|all_lung(227;0.0446)|Ovarian(221;0.104)|Lung NSC(271;0.115)|Esophageal squamous(248;0.131)|all_hematologic(139;0.182)|Melanoma(123;0.238) Epithelial(32;6.92e-32)|all cancers(36;5.35e-29)|OV - Ovarian serous cystadenocarcinoma(60;3.4e-14)|Kidney(56;4.23e-09)|KIRC - Kidney renal clear cell carcinoma(57;4.24e-08)|BRCA - Breast invasive adenocarcinoma(100;3.56e-06)|Lung(119;0.000588)|LUSC - Lung squamous cell carcinoma(224;0.0048)|Colorectal(34;0.0137)|COAD - Colon adenocarcinoma(134;0.096) ACGCGGCGCGGGGCAGCAACA 0.721000 KIF16B 55614 broad.mit.edu 37 20 16410511 16410511 + Missense_Mutation SNP T T G TCGA-BR-8369-01A-11D-2340-08 TCGA-BR-8369-10A-01D-2341-08 Untested Somatic Phase_I WXS none Illumina GAIIx 289a4096-4e30-4505-a60b-7c3a89da7ee6 acc4a8fb-74bb-4009-b4b7-23941bc1469a g.chr20:16410511T>G uc002wpg.1 - 13 1577 c.1419A>C c.(1417-1419)TTA>TTC p.L473F KIF16B_uc010gch.1_Missense_Mutation_p.L473F|KIF16B_uc010gci.1_Missense_Mutation_p.L473F|KIF16B_uc010gcj.1_Missense_Mutation_p.L473F NM_024704 NP_078980 Q96L93 KI16B_HUMAN kinesin-like motor protein C20orf23 473 cell communication|early endosome to late endosome transport|endoderm development|epidermal growth factor receptor signaling pathway|fibroblast growth factor receptor signaling pathway|formation of primary germ layer|Golgi to endosome transport|microtubule-based movement|receptor catabolic process|regulation of receptor recycling early endosome membrane|microtubule ATP binding|phosphatidylinositol-3,4,5-trisphosphate binding|phosphatidylinositol-3,4-bisphosphate binding|phosphatidylinositol-3,5-bisphosphate binding|phosphatidylinositol-3-phosphate binding|plus-end-directed microtubule motor activity skin(2)|large_intestine(1)|central_nervous_system(1)|lung(1)|breast(1)|ovary(1)|kidney(1) 8 TTTCTACCTTTAAATGATATA 0.338000 TTLL9 164395 broad.mit.edu 37 20 30526998 30526998 + Missense_Mutation SNP G G T TCGA-BR-8369-01A-11D-2340-08 TCGA-BR-8369-10A-01D-2341-08 Untested Somatic Phase_I WXS none Illumina GAIIx 289a4096-4e30-4505-a60b-7c3a89da7ee6 acc4a8fb-74bb-4009-b4b7-23941bc1469a g.chr20:30526998G>T uc010gdx.1 + 14 1425 c.1172G>T c.(1171-1173)GGC>GTC p.G391V TTLL9_uc002wwy.1_RNA|TTLL9_uc002wwz.1_Intron|TTLL9_uc002wxa.1_RNA|TTLL9_uc002wxb.1_RNA|TTLL9_uc010zto.1_RNA|TTLL9_uc002wxc.2_Missense_Mutation_p.G293V|TTLL9_uc010ztp.1_Intron|TTLL9_uc010ztq.1_RNA NM_001008409 NP_001008409 Q3SXZ7 TTLL9_HUMAN tubulin tyrosine ligase-like family, member 9 391 protein modification process cilium|microtubule|microtubule basal body ATP binding|tubulin-tyrosine ligase activity ovary(2) 2 Colorectal(19;0.00306)|COAD - Colon adenocarcinoma(19;0.0347) TGGAATGATGGCCCTGTTAGC 0.592000 MAFB 9935 broad.mit.edu 37 20 39317195 39317195 + Missense_Mutation SNP G G A TCGA-BR-8369-01A-11D-2340-08 TCGA-BR-8369-10A-01D-2341-08 Untested Somatic Phase_I WXS none Illumina GAIIx 289a4096-4e30-4505-a60b-7c3a89da7ee6 acc4a8fb-74bb-4009-b4b7-23941bc1469a g.chr20:39317195G>A uc002xji.2 - 1 682 c.296C>T c.(295-297)GCG>GTG p.A99V NM_005461 NP_005452 Q9Y5Q3 MAFB_HUMAN transcription factor MAFB 99 negative regulation of erythrocyte differentiation sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription factor binding 0 Myeloproliferative disorder(115;0.00878) CAGGTTGAGCGCCTCGGGGTT 0.622000 T IGH@ MM PTPRT 11122 broad.mit.edu 37 20 40770578 40770578 + Missense_Mutation SNP T T A TCGA-BR-8369-01A-11D-2340-08 TCGA-BR-8369-10A-01D-2341-08 Untested Somatic Phase_I WXS none Illumina GAIIx 289a4096-4e30-4505-a60b-7c3a89da7ee6 acc4a8fb-74bb-4009-b4b7-23941bc1469a g.chr20:40770578T>A uc002xkg.2 - 18 2931 c.2747A>T c.(2746-2748)AAT>ATT p.N916I PTPRT_uc010ggj.2_Missense_Mutation_p.N935I|PTPRT_uc010ggi.2_Missense_Mutation_p.N119I NM_007050 NP_008981 O14522 PTPRT_HUMAN protein tyrosine phosphatase, receptor type, T 916 Tyrosine-protein phosphatase 1.|Cytoplasmic (Potential). homophilic cell adhesion|transmembrane receptor protein tyrosine kinase signaling pathway cell surface|integral to membrane|plasma membrane alpha-catenin binding|beta-catenin binding|cadherin binding|delta-catenin binding|gamma-catenin binding|protein tyrosine phosphatase activity|receptor activity skin(8)|ovary(7)|lung(5) 20 Myeloproliferative disorder(115;0.00452)|Lung NSC(126;0.0573)|all_lung(126;0.0783) CCCATATCGATTCTTATTGCG 0.488000 PTPRT 11122 broad.mit.edu 37 20 40770584 40770584 + Missense_Mutation SNP T T G TCGA-BR-8369-01A-11D-2340-08 TCGA-BR-8369-10A-01D-2341-08 Untested Somatic Phase_I WXS none Illumina GAIIx 289a4096-4e30-4505-a60b-7c3a89da7ee6 acc4a8fb-74bb-4009-b4b7-23941bc1469a g.chr20:40770584T>G uc002xkg.2 - 18 2925 c.2741A>C c.(2740-2742)AAT>ACT p.N914T PTPRT_uc010ggj.2_Missense_Mutation_p.N933T|PTPRT_uc010ggi.2_Missense_Mutation_p.N117T NM_007050 NP_008981 O14522 PTPRT_HUMAN protein tyrosine phosphatase, receptor type, T 914 Tyrosine-protein phosphatase 1.|Cytoplasmic (Potential). homophilic cell adhesion|transmembrane receptor protein tyrosine kinase signaling pathway cell surface|integral to membrane|plasma membrane alpha-catenin binding|beta-catenin binding|cadherin binding|delta-catenin binding|gamma-catenin binding|protein tyrosine phosphatase activity|receptor activity skin(8)|ovary(7)|lung(5) 20 Myeloproliferative disorder(115;0.00452)|Lung NSC(126;0.0573)|all_lung(126;0.0783) TCGATTCTTATTGCGGTTTTC 0.493000 KCNQ2 3785 broad.mit.edu 37 20 62038613 62038613 + Missense_Mutation SNP G G T TCGA-BR-8369-01A-11D-2340-08 TCGA-BR-8369-10A-01D-2341-08 Untested Somatic Phase_I WXS none Illumina GAIIx 289a4096-4e30-4505-a60b-7c3a89da7ee6 acc4a8fb-74bb-4009-b4b7-23941bc1469a g.chr20:62038613G>T uc002yey.1 - 17 2180 c.2003C>A c.(2002-2004)CCG>CAG p.P668Q KCNQ2_uc002yez.1_Missense_Mutation_p.P637Q|KCNQ2_uc002yfa.1_Missense_Mutation_p.P650Q|KCNQ2_uc002yfb.1_Missense_Mutation_p.P640Q NM_172107 NP_742105 O43526 KCNQ2_HUMAN potassium voltage-gated channel KQT-like protein 668 Cytoplasmic (Potential). axon guidance|synaptic transmission voltage-gated potassium channel complex voltage-gated potassium channel activity upper_aerodigestive_tract(1)|ovary(1) 2 all_cancers(38;1.24e-11) BRCA - Breast invasive adenocarcinoma(10;1.04e-05) Amitriptyline(DB00321) GTGGTACGGCGGCGCCGGCTC 0.622000 NCAM2 4685 broad.mit.edu 37 21 22906909 22906909 + Missense_Mutation SNP A A T TCGA-BR-8369-01A-11D-2340-08 TCGA-BR-8369-10A-01D-2341-08 Untested Somatic Phase_I WXS none Illumina GAIIx 289a4096-4e30-4505-a60b-7c3a89da7ee6 acc4a8fb-74bb-4009-b4b7-23941bc1469a g.chr21:22906909A>T uc002yld.1 + 17 2583 c.2334A>T c.(2332-2334)AGA>AGT p.R778S NCAM2_uc011acb.1_Missense_Mutation_p.R636S NM_004540 NP_004531 O15394 NCAM2_HUMAN neural cell adhesion molecule 2 precursor 778 Cytoplasmic (Potential). neuron cell-cell adhesion integral to membrane|plasma membrane ovary(4) 4 Lung NSC(9;0.195) all cancers(11;0.00102)|OV - Ovarian serous cystadenocarcinoma(11;0.00121)|Epithelial(23;0.00147)|Colorectal(24;0.174) AGGATGAAAGAGTTACTAATC 0.398000 RCAN1 1827 broad.mit.edu 37 21 35893851 35893851 + Missense_Mutation SNP C C A TCGA-BR-8369-01A-11D-2340-08 TCGA-BR-8369-10A-01D-2341-08 Untested Somatic Phase_I WXS none Illumina GAIIx 289a4096-4e30-4505-a60b-7c3a89da7ee6 acc4a8fb-74bb-4009-b4b7-23941bc1469a g.chr21:35893851C>A uc002yue.2 - 3 604 c.532G>T c.(532-534)GCG>TCG p.A178S RCAN1_uc002yuc.2_Missense_Mutation_p.A97S|RCAN1_uc002yud.2_Missense_Mutation_p.A43S|RCAN1_uc002yub.2_Missense_Mutation_p.A123S|RCAN1_uc011adx.1_Missense_Mutation_p.A123S NM_004414 NP_004405 P53805 RCAN1_HUMAN calcipressin 1 isoform a 178 blood circulation|calcium-mediated signaling|central nervous system development nucleus DNA binding|protein binding|sequence-specific DNA binding transcription factor activity 0 ACTGGGGTCGCATCTTCCACT 0.577000 CECR2 27443 broad.mit.edu 37 22 18020105 18020105 + Nonsense_Mutation SNP T T A TCGA-BR-8369-01A-11D-2340-08 TCGA-BR-8369-10A-01D-2341-08 Untested Somatic Phase_I WXS none Illumina GAIIx 289a4096-4e30-4505-a60b-7c3a89da7ee6 acc4a8fb-74bb-4009-b4b7-23941bc1469a g.chr22:18020105T>A uc010gqw.1 + 13 1560 c.1434T>A c.(1432-1434)TAT>TAA p.Y478* CECR2_uc010gqv.1_Nonsense_Mutation_p.Y337*|CECR2_uc002zml.2_Nonsense_Mutation_p.Y337* NM_031413 NP_113601 Q9BXF3 CECR2_HUMAN cat eye syndrome chromosome region, candidate 2 520 Bromo. chromatin modification|cytokinesis|cytoskeleton organization|DNA fragmentation involved in apoptotic nuclear change|vesicle-mediated transport protein binding ovary(1)|skin(1) 2 all_epithelial(15;0.139) Lung(27;0.146) CTATAGAGTATACCAAGATGT 0.348000 VPREB1 7441 broad.mit.edu 37 22 22599607 22599607 + Missense_Mutation SNP A A G rs143361893 TCGA-BR-8369-01A-11D-2340-08 TCGA-BR-8369-10A-01D-2341-08 Untested Somatic Phase_I WXS none Illumina GAIIx 289a4096-4e30-4505-a60b-7c3a89da7ee6 acc4a8fb-74bb-4009-b4b7-23941bc1469a g.chr22:22599607A>G uc002zvx.1 + 2 322 c.296A>G c.(295-297)TAT>TGT p.Y99C LOC96610_uc011aim.1_Intron NM_007128 NP_009059 P12018 VPREB_HUMAN immunoglobulin iota chain precursor 99 Ig-like V-type.|Framework-3. immune response extracellular region antigen binding|protein binding 0 all_hematologic(9;0.0312)|Acute lymphoblastic leukemia(84;0.155) all_cancers(3;3.14e-14)|Acute lymphoblastic leukemia(3;2.97e-57)|all_hematologic(3;5.9e-52) READ - Rectum adenocarcinoma(21;0.145) AACAGGGGGTATTTGAGCATC 0.478000 ADORA2A 135 broad.mit.edu 37 22 24837199 24837199 + Silent SNP T T C TCGA-BR-8369-01A-11D-2340-08 TCGA-BR-8369-10A-01D-2341-08 Untested Somatic Phase_I WXS none Illumina GAIIx 289a4096-4e30-4505-a60b-7c3a89da7ee6 acc4a8fb-74bb-4009-b4b7-23941bc1469a g.chr22:24837199T>C uc002zzx.2 + 5 1744 c.981T>C c.(979-981)CAT>CAC p.H327H ADORA2A_uc002zzy.3_Silent_p.H327H|ADORA2A_uc011ajs.1_Silent_p.H188H|ADORA2A_uc010gup.2_Silent_p.H327H|ADORA2A_uc010guq.2_Silent_p.H327H|ADORA2A_uc003aab.2_Silent_p.H327H|ADORA2A_uc003aac.2_Silent_p.H188H|C22orf45_uc003aad.1_Intron NM_000675 NP_000666 P29274 AA2AR_HUMAN adenosine A2a receptor 327 Cytoplasmic. apoptosis|blood coagulation|cAMP biosynthetic process|cellular defense response|inflammatory response|nerve growth factor receptor signaling pathway|phagocytosis|sensory perception integral to plasma membrane|membrane fraction enzyme binding 0 Colorectal(2;0.196) Caffeine(DB00201)|Defibrotide(DB04932)|Pegademase bovine(DB00061)|Theophylline(DB00277) TGGCAGCTCATGGCAGTGACG 0.642000 CNTN6 27255 broad.mit.edu 37 3 1363393 1363393 + Missense_Mutation SNP A A G TCGA-BR-8369-01A-11D-2340-08 TCGA-BR-8369-10A-01D-2341-08 Untested Somatic Phase_I WXS none Illumina GAIIx 289a4096-4e30-4505-a60b-7c3a89da7ee6 acc4a8fb-74bb-4009-b4b7-23941bc1469a g.chr3:1363393A>G uc003boz.2 + 8 1088 c.821A>G c.(820-822)AAG>AGG p.K274R CNTN6_uc011asj.1_Missense_Mutation_p.K202R|CNTN6_uc003bpa.2_Missense_Mutation_p.K274R NM_014461 NP_055276 Q9UQ52 CNTN6_HUMAN contactin 6 precursor 274 Ig-like C2-type 3. axon guidance|cell adhesion|central nervous system development|Notch signaling pathway anchored to membrane|plasma membrane skin(3)|lung(2)|breast(2)|pancreas(1) 8 all_cancers(2;0.000164)|all_epithelial(2;0.107) Epithelial(13;0.000233)|all cancers(10;0.0013)|OV - Ovarian serous cystadenocarcinoma(96;0.0139) GGGAAAGTCAAGTACAGCAAA 0.448000 C3orf32 51066 broad.mit.edu 37 3 8673781 8673781 + Silent SNP G G T TCGA-BR-8369-01A-11D-2340-08 TCGA-BR-8369-10A-01D-2341-08 Untested Somatic Phase_I WXS none Illumina GAIIx 289a4096-4e30-4505-a60b-7c3a89da7ee6 acc4a8fb-74bb-4009-b4b7-23941bc1469a g.chr3:8673781G>T uc003bqu.2 - 5 534 c.288C>A c.(286-288)ACC>ACA p.T96T C3orf32_uc003bqz.2_Silent_p.T96T|C3orf32_uc003bqt.2_Silent_p.T45T|C3orf32_uc011atg.1_Silent_p.T118T|C3orf32_uc003bqv.2_Silent_p.T45T|C3orf32_uc003bqw.2_RNA|C3orf32_uc003bqx.2_RNA|C3orf32_uc003bqy.2_Silent_p.T96T NM_015931 NP_057015 Q9Y2M2 CC032_HUMAN hypothetical protein LOC51066 96 skin(1) 1 ATTCACTAAAGGTCTCCAGAC 0.423000 SRGAP3 9901 broad.mit.edu 37 3 9057396 9057396 + Silent SNP G G A rs141284390 byFrequency TCGA-BR-8369-01A-11D-2340-08 TCGA-BR-8369-10A-01D-2341-08 Untested Somatic Phase_I WXS none Illumina GAIIx 289a4096-4e30-4505-a60b-7c3a89da7ee6 acc4a8fb-74bb-4009-b4b7-23941bc1469a g.chr3:9057396G>A uc003brf.1 - 15 2374 c.1698C>T c.(1696-1698)GAC>GAT p.D566D SRGAP3_uc003brg.1_Silent_p.D542D|SRGAP3_uc003bri.1_RNA NM_014850 NP_055665 O43295 SRGP2_HUMAN SLIT-ROBO Rho GTPase activating protein 3 566 Rho-GAP. regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction cytosol GTPase activator activity|protein binding SRGAP3/RAF1(4) central_nervous_system(4)|skin(3)|urinary_tract(1)|breast(1) 9 OV - Ovarian serous cystadenocarcinoma(96;0.0563) CATTTTGATCGTCCACAAGGG 0.448000 T RAF1 pilocytic astrocytoma BRPF1 7862 broad.mit.edu 37 3 9781151 9781151 + Nonsense_Mutation SNP G G A TCGA-BR-8369-01A-11D-2340-08 TCGA-BR-8369-10A-01D-2341-08 Untested Somatic Phase_I WXS none Illumina GAIIx 289a4096-4e30-4505-a60b-7c3a89da7ee6 acc4a8fb-74bb-4009-b4b7-23941bc1469a g.chr3:9781151G>A uc003bse.2 + 3 1467 c.1068G>A c.(1066-1068)TGG>TGA p.W356* BRPF1_uc003bsf.2_Nonsense_Mutation_p.W356*|BRPF1_uc003bsg.2_Nonsense_Mutation_p.W356*|BRPF1_uc011ati.1_Nonsense_Mutation_p.W356* NM_004634 NP_004625 P55201 BRPF1_HUMAN bromodomain and PHD finger-containing protein 1 356 histone H3 acetylation|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent cytoplasm|MOZ/MORF histone acetyltransferase complex|plasma membrane DNA binding|zinc ion binding ovary(2)|central_nervous_system(1) 3 Medulloblastoma(99;0.227) GTGCCTTGTGGATCCCTGAGG 0.587000 IQSEC1 9922 broad.mit.edu 37 3 12983126 12983126 + Missense_Mutation SNP C C T TCGA-BR-8369-01A-11D-2340-08 TCGA-BR-8369-10A-01D-2341-08 Untested Somatic Phase_I WXS none Illumina GAIIx 289a4096-4e30-4505-a60b-7c3a89da7ee6 acc4a8fb-74bb-4009-b4b7-23941bc1469a g.chr3:12983126C>T uc003bxt.2 - 2 314 c.305G>A c.(304-306)CGC>CAC p.R102H IQSEC1_uc003bxu.3_5'UTR|IQSEC1_uc011auw.1_Missense_Mutation_p.R88H NM_014869 NP_055684 Q6DN90 IQEC1_HUMAN IQ motif and Sec7 domain 1 isoform b 102 regulation of ARF protein signal transduction cytoplasm|nucleus ARF guanyl-nucleotide exchange factor activity ovary(1) 1 TGAGCGTGAGCGCTTGATGGC 0.657000 RFTN1 23180 broad.mit.edu 37 3 16535246 16535246 + Missense_Mutation SNP G G A TCGA-BR-8369-01A-11D-2340-08 TCGA-BR-8369-10A-01D-2341-08 Untested Somatic Phase_I WXS none Illumina GAIIx 289a4096-4e30-4505-a60b-7c3a89da7ee6 acc4a8fb-74bb-4009-b4b7-23941bc1469a g.chr3:16535246G>A uc003cay.2 - 2 413 c.131C>T c.(130-132)ACG>ATG p.T44M NM_015150 NP_055965 Q14699 RFTN1_HUMAN raft-linking protein 44 plasma membrane ovary(3)|central_nervous_system(1) 4 ACTCAGAGTCGTGAACTCCAG 0.547000 TRIM71 131405 broad.mit.edu 37 3 32933115 32933115 + Missense_Mutation SNP C C T TCGA-BR-8369-01A-11D-2340-08 TCGA-BR-8369-10A-01D-2341-08 Untested Somatic Phase_I WXS none Illumina GAIIx 289a4096-4e30-4505-a60b-7c3a89da7ee6 acc4a8fb-74bb-4009-b4b7-23941bc1469a g.chr3:32933115C>T uc003cff.2 + 4 2482 c.2419C>T c.(2419-2421)CGC>TGC p.R807C NM_001039111 NP_001034200 Q2Q1W2 LIN41_HUMAN tripartite motif-containing 71 807 NHL 5. multicellular organismal development cytoplasm zinc ion binding ovary(2)|large_intestine(1) 3 CCAGGAAGGGCGCATCATTGT 0.592000 TRAK1 22906 broad.mit.edu 37 3 42244001 42244001 + Missense_Mutation SNP C C T TCGA-BR-8369-01A-11D-2340-08 TCGA-BR-8369-10A-01D-2341-08 Untested Somatic Phase_I WXS none Illumina GAIIx 289a4096-4e30-4505-a60b-7c3a89da7ee6 acc4a8fb-74bb-4009-b4b7-23941bc1469a g.chr3:42244001C>T uc003cky.2 + 13 1717 c.1501C>T c.(1501-1503)CGG>TGG p.R501W TRAK1_uc011azh.1_Missense_Mutation_p.R501W|TRAK1_uc011azi.1_Missense_Mutation_p.R501W|TRAK1_uc003ckz.3_Missense_Mutation_p.R427W|TRAK1_uc011azj.1_Missense_Mutation_p.R427W|TRAK1_uc003cla.2_Missense_Mutation_p.R443W NM_001042646 NP_001036111 Q9UPV9 TRAK1_HUMAN OGT(O-Glc-NAc transferase)-interacting protein 501 Interaction with HGS.|Potential. endosome to lysosome transport|protein O-linked glycosylation|protein targeting|regulation of transcription from RNA polymerase II promoter early endosome|mitochondrion|nucleus ovary(1) 1 GGCGCTGAGGCGGCTGTCCCT 0.647000 KBTBD5 131377 broad.mit.edu 37 3 42727916 42727916 + Missense_Mutation SNP G G A TCGA-BR-8369-01A-11D-2340-08 TCGA-BR-8369-10A-01D-2341-08 Untested Somatic Phase_I WXS none Illumina GAIIx 289a4096-4e30-4505-a60b-7c3a89da7ee6 acc4a8fb-74bb-4009-b4b7-23941bc1469a g.chr3:42727916G>A uc003clv.1 + 1 906 c.806G>A c.(805-807)CGG>CAG p.R269Q NM_152393 NP_689606 Q2TBA0 KBTB5_HUMAN kelch repeat and BTB (POZ) domain containing 5 269 ovary(1) 1 KIRC - Kidney renal clear cell carcinoma(284;0.214) ACCACGCTGCGGAAGAAAAAG 0.617000 COL7A1 1294 broad.mit.edu 37 3 48608296 48608296 + Missense_Mutation SNP G G A TCGA-BR-8369-01A-11D-2340-08 TCGA-BR-8369-10A-01D-2341-08 Untested Somatic Phase_I WXS none Illumina GAIIx 289a4096-4e30-4505-a60b-7c3a89da7ee6 acc4a8fb-74bb-4009-b4b7-23941bc1469a g.chr3:48608296G>A uc003ctz.2 - 94 7271 c.7270C>T c.(7270-7272)CGG>TGG p.R2424W NM_000094 NP_000085 Q02388 CO7A1_HUMAN alpha 1 type VII collagen precursor 2424 Triple-helical region. cell adhesion|epidermis development basement membrane|collagen type VII protein binding|serine-type endopeptidase inhibitor activity ovary(4)|breast(3)|skin(3)|central_nervous_system(1) 11 BRCA - Breast invasive adenocarcinoma(193;0.000293)|KIRC - Kidney renal clear cell carcinoma(197;0.00558)|Kidney(197;0.00632) CCCCTCACCCGCTCTCCACTA 0.667000 BSN 8927 broad.mit.edu 37 3 49688122 49688122 + Silent SNP G G A TCGA-BR-8369-01A-11D-2340-08 TCGA-BR-8369-10A-01D-2341-08 Untested Somatic Phase_I WXS none Illumina GAIIx 289a4096-4e30-4505-a60b-7c3a89da7ee6 acc4a8fb-74bb-4009-b4b7-23941bc1469a g.chr3:49688122G>A uc003cxe.3 + 4 1710 c.1596G>A c.(1594-1596)CCG>CCA p.P532P NM_003458 NP_003449 Q9UPA5 BSN_HUMAN bassoon protein 532 synaptic transmission cell junction|cytoplasm|cytoskeleton|nucleus|synaptosome metal ion binding ovary(5)|pancreas(1)|central_nervous_system(1)|skin(1) 8 BRCA - Breast invasive adenocarcinoma(193;6.66e-05)|KIRC - Kidney renal clear cell carcinoma(197;0.0032)|Kidney(197;0.00336) CCCCCCTGCCGCCGCCCACCT 0.642000 PRICKLE2 166336 broad.mit.edu 37 3 64133061 64133061 + Missense_Mutation SNP C C T TCGA-BR-8369-01A-11D-2340-08 TCGA-BR-8369-10A-01D-2341-08 Untested Somatic Phase_I WXS none Illumina GAIIx 289a4096-4e30-4505-a60b-7c3a89da7ee6 acc4a8fb-74bb-4009-b4b7-23941bc1469a g.chr3:64133061C>T uc003dmf.2 - 7 1691 c.1105G>A c.(1105-1107)GTA>ATA p.V369I NM_198859 NP_942559 Q7Z3G6 PRIC2_HUMAN prickle-like 2 369 cytoplasm|nuclear membrane zinc ion binding ovary(4)|skin(1) 5 Lung NSC(201;0.136) BRCA - Breast invasive adenocarcinoma(55;0.000971)|KIRC - Kidney renal clear cell carcinoma(15;0.00443)|Kidney(15;0.00497) AGGGGGTCTACGTCGGCTGAC 0.607000 CNTN3 5067 broad.mit.edu 37 3 74316531 74316531 + Splice_Site SNP T T C TCGA-BR-8369-01A-11D-2340-08 TCGA-BR-8369-10A-01D-2341-08 Untested Somatic Phase_I WXS none Illumina GAIIx 289a4096-4e30-4505-a60b-7c3a89da7ee6 acc4a8fb-74bb-4009-b4b7-23941bc1469a g.chr3:74316531T>C uc003dpm.1 - 20 2785 c.2705_splice c.e20-1 p.P902_splice NM_020872 NP_065923 Q9P232 CNTN3_HUMAN contactin 3 precursor cell adhesion anchored to membrane|plasma membrane protein binding breast(3)|ovary(1)|skin(1) 5 Lung NSC(201;0.138)|Lung SC(41;0.21) Epithelial(33;0.00212)|BRCA - Breast invasive adenocarcinoma(55;0.00258)|LUSC - Lung squamous cell carcinoma(21;0.00461)|Lung(16;0.01) GACTGGGAGCTTGAAATGCAA 0.413000 CD80 941 broad.mit.edu 37 3 119263627 119263627 + Missense_Mutation SNP C C T TCGA-BR-8369-01A-11D-2340-08 TCGA-BR-8369-10A-01D-2341-08 Untested Somatic Phase_I WXS none Illumina GAIIx 289a4096-4e30-4505-a60b-7c3a89da7ee6 acc4a8fb-74bb-4009-b4b7-23941bc1469a g.chr3:119263627C>T uc003ecq.2 - 3 583 c.188G>A c.(187-189)CGC>CAC p.R63H CD80_uc010hqt.1_Missense_Mutation_p.R63H|CD80_uc010hqu.1_Missense_Mutation_p.R63H|CD80_uc003ecr.1_Missense_Mutation_p.R63H NM_005191 NP_005182 P33681 CD80_HUMAN CD80 antigen precursor 63 Extracellular (Potential).|Ig-like V-type. interspecies interaction between organisms|intracellular signal transduction|positive regulation of granulocyte macrophage colony-stimulating factor biosynthetic process|positive regulation of interleukin-2 biosynthetic process|positive regulation of peptidyl-tyrosine phosphorylation|positive regulation of signal transduction|positive regulation of T-helper 1 cell differentiation|positive regulation of transcription, DNA-dependent|T cell costimulation intracellular coreceptor activity|protein binding upper_aerodigestive_tract(1)|ovary(1) 2 Abatacept(DB01281) CCAGTAGATGCGAGTTTGTGC 0.468000 ADPRH 141 broad.mit.edu 37 3 119305464 119305464 + Missense_Mutation SNP T T A TCGA-BR-8369-01A-11D-2340-08 TCGA-BR-8369-10A-01D-2341-08 Untested Somatic Phase_I WXS none Illumina GAIIx 289a4096-4e30-4505-a60b-7c3a89da7ee6 acc4a8fb-74bb-4009-b4b7-23941bc1469a g.chr3:119305464T>A uc003ecs.2 + 4 929 c.631T>A c.(631-633)TAC>AAC p.Y211N ADPRH_uc010hqv.2_Missense_Mutation_p.Y211N|ADPRH_uc011bjb.1_Missense_Mutation_p.Y104N|ADPRH_uc003ect.2_Missense_Mutation_p.Y211N NM_001125 NP_001116 P54922 ADPRH_HUMAN ADP-ribosylarginine hydrolase 211 protein de-ADP-ribosylation ADP-ribosylarginine hydrolase activity|magnesium ion binding ovary(1) 1 Lung NSC(201;0.0977) GBM - Glioblastoma multiforme(114;0.23) CCAATCAGGCTACTTTGTAGA 0.468000 STXBP5L 9515 broad.mit.edu 37 3 120959317 120959317 + Missense_Mutation SNP C C A TCGA-BR-8369-01A-11D-2340-08 TCGA-BR-8369-10A-01D-2341-08 Untested Somatic Phase_I WXS none Illumina GAIIx 289a4096-4e30-4505-a60b-7c3a89da7ee6 acc4a8fb-74bb-4009-b4b7-23941bc1469a g.chr3:120959317C>A uc003eec.3 + 14 1503 c.1363C>A c.(1363-1365)CTT>ATT p.L455I STXBP5L_uc011bji.1_Missense_Mutation_p.L455I NM_014980 NP_055795 Q9Y2K9 STB5L_HUMAN syntaxin binding protein 5-like 455 WD 8. exocytosis|protein transport cytoplasm|integral to membrane|plasma membrane ovary(7)|skin(2) 9 GBM - Glioblastoma multiforme(114;0.0694) AGCTTGGAACCTTGGAGCACA 0.323000 CASR 846 broad.mit.edu 37 3 121980735 121980735 + Silent SNP C C A TCGA-BR-8369-01A-11D-2340-08 TCGA-BR-8369-10A-01D-2341-08 Untested Somatic Phase_I WXS none Illumina GAIIx 289a4096-4e30-4505-a60b-7c3a89da7ee6 acc4a8fb-74bb-4009-b4b7-23941bc1469a g.chr3:121980735C>A uc003eev.3 + 4 1225 c.853C>A c.(853-855)CGG>AGG p.R285R CASR_uc003eew.3_Silent_p.R285R NM_000388 NP_000379 P41180 CASR_HUMAN calcium-sensing receptor precursor 285 Extracellular (Potential). anatomical structure morphogenesis|calcium ion import|cellular calcium ion homeostasis|chemosensory behavior|detection of calcium ion|ossification integral to plasma membrane G-protein coupled receptor activity|phosphatidylinositol phospholipase C activity ovary(4)|skin(2)|upper_aerodigestive_tract(1) 7 GBM - Glioblastoma multiforme(114;0.226) Cinacalcet(DB01012) GGAGATTGTCCGGCGCAATAT 0.572000 ADCY5 111 broad.mit.edu 37 3 123019008 123019008 + Silent SNP C C T TCGA-BR-8369-01A-11D-2340-08 TCGA-BR-8369-10A-01D-2341-08 Untested Somatic Phase_I WXS none Illumina GAIIx 289a4096-4e30-4505-a60b-7c3a89da7ee6 acc4a8fb-74bb-4009-b4b7-23941bc1469a g.chr3:123019008C>T uc003egh.1 - 15 2859 c.2859G>A c.(2857-2859)ACG>ACA p.T953T ADCY5_uc003egg.1_Silent_p.T586T|ADCY5_uc003egi.1_Silent_p.T512T NM_183357 NP_899200 O95622 ADCY5_HUMAN adenylate cyclase 5 953 Helical; (Potential). activation of phospholipase C activity|activation of protein kinase A activity|cellular response to glucagon stimulus|energy reserve metabolic process|nerve growth factor receptor signaling pathway|synaptic transmission|transmembrane transport|water transport integral to membrane|plasma membrane adenylate cyclase activity|ATP binding|metal ion binding ovary(4) 4 GBM - Glioblastoma multiforme(114;0.0342) TGTCGAAGAGCGTGACACCTG 0.617000 MBD4 8930 broad.mit.edu 37 3 129156711 129156711 + Missense_Mutation SNP G G A TCGA-BR-8369-01A-11D-2340-08 TCGA-BR-8369-10A-01D-2341-08 Untested Somatic Phase_I WXS none Illumina GAIIx 289a4096-4e30-4505-a60b-7c3a89da7ee6 acc4a8fb-74bb-4009-b4b7-23941bc1469a g.chr3:129156711G>A uc003emh.1 - 2 363 c.187C>T c.(187-189)CCC>TCC p.P63S IFT122_uc003eml.2_5'Flank|IFT122_uc003emm.2_5'Flank|IFT122_uc003emn.2_5'Flank|IFT122_uc003emo.2_5'Flank|IFT122_uc003emp.2_5'Flank|IFT122_uc010htc.2_5'Flank|IFT122_uc011bky.1_5'Flank|IFT122_uc003emq.2_5'Flank|MBD4_uc003emi.1_Missense_Mutation_p.P63S|MBD4_uc003emj.1_Missense_Mutation_p.P63S|MBD4_uc003emk.1_Missense_Mutation_p.P63S|MBD4_uc011bkw.1_Missense_Mutation_p.P63S|IFT122_uc011bkx.1_5'Flank NM_003925 NP_003916 O95243 MBD4_HUMAN methyl-CpG binding domain protein 4 63 depyrimidination nucleoplasm DNA N-glycosylase activity|endodeoxyribonuclease activity|protein binding|satellite DNA binding ovary(1)|lung(1) 2 TGTAGCAAGGGATTACATTCA 0.428000 BER_DNA_glycosylases PLOD2 5352 broad.mit.edu 37 3 145838953 145838953 + Missense_Mutation SNP T T C TCGA-BR-8369-01A-11D-2340-08 TCGA-BR-8369-10A-01D-2341-08 Untested Somatic Phase_I WXS none Illumina GAIIx 289a4096-4e30-4505-a60b-7c3a89da7ee6 acc4a8fb-74bb-4009-b4b7-23941bc1469a g.chr3:145838953T>C uc003evs.1 - 3 790 c.284A>G c.(283-285)GAA>GGA p.E95G PLOD2_uc011bnm.1_Missense_Mutation_p.E40G|PLOD2_uc003evr.1_Missense_Mutation_p.E95G NM_000935 NP_000926 O00469 PLOD2_HUMAN procollagen-lysine, 2-oxoglutarate 5-dioxygenase 95 protein modification process|response to hypoxia rough endoplasmic reticulum membrane iron ion binding|L-ascorbic acid binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|procollagen-lysine 5-dioxygenase activity|protein binding ovary(1)|skin(1) 2 Vitamin C(DB00126) TTCCATGACTTCTTTCATTAA 0.373000 NAALADL2 254827 broad.mit.edu 37 3 174814909 174814909 + Missense_Mutation SNP G G A rs150099163 by1000genomes TCGA-BR-8369-01A-11D-2340-08 TCGA-BR-8369-10A-01D-2341-08 Untested Somatic Phase_I WXS none Illumina GAIIx 289a4096-4e30-4505-a60b-7c3a89da7ee6 acc4a8fb-74bb-4009-b4b7-23941bc1469a g.chr3:174814909G>A uc003fit.2 + 2 460 c.373G>A c.(373-375)GTC>ATC p.V125I NAALADL2_uc003fiu.1_Missense_Mutation_p.V118I NM_207015 NP_996898 Q58DX5 NADL2_HUMAN N-acetylated alpha-linked acidic dipeptidase 2 125 Helical; Signal-anchor for type II membrane protein; (Potential). proteolysis integral to membrane peptidase activity pancreas(1) 1 Ovarian(172;0.0102) all_cancers(1;0.0272)|all_epithelial(1;0.0553) OV - Ovarian serous cystadenocarcinoma(80;9.26e-28) Colorectal(1;1.66e-10)|COAD - Colon adenocarcinoma(1;2.1e-07)|STAD - Stomach adenocarcinoma(1;0.00261)|READ - Rectum adenocarcinoma(3;0.0284) CTTTTGCCACGTCTTAAAAAT 0.388000 LRRC15 131578 broad.mit.edu 37 3 194080940 194080940 + Missense_Mutation SNP C C T TCGA-BR-8369-01A-11D-2340-08 TCGA-BR-8369-10A-01D-2341-08 Untested Somatic Phase_I WXS none Illumina GAIIx 289a4096-4e30-4505-a60b-7c3a89da7ee6 acc4a8fb-74bb-4009-b4b7-23941bc1469a g.chr3:194080940C>T uc003ftu.2 - 2 919 c.833G>A c.(832-834)GGG>GAG p.G278E LRRC15_uc003ftt.2_Missense_Mutation_p.G284E NM_130830 NP_570843 Q8TF66 LRC15_HUMAN leucine rich repeat containing 15 isoform b 278 Extracellular (Potential).|LRR 10. integral to membrane ovary(3) 3 all_cancers(143;5.31e-09)|Ovarian(172;0.0634) OV - Ovarian serous cystadenocarcinoma(49;2.2e-17)|LUSC - Lung squamous cell carcinoma(58;3.55e-06)|Lung(62;4.19e-06) GBM - Glioblastoma multiforme(46;4.94e-05) CAGGGAATTCCCAAAGAGAGT 0.562000 FGFR3 2261 broad.mit.edu 37 4 1807568 1807568 + Silent SNP C C T TCGA-BR-8369-01A-11D-2340-08 TCGA-BR-8369-10A-01D-2341-08 Untested Somatic Phase_I WXS none Illumina GAIIx 289a4096-4e30-4505-a60b-7c3a89da7ee6 acc4a8fb-74bb-4009-b4b7-23941bc1469a g.chr4:1807568C>T uc003gdr.3 + 13 1993 c.1737C>T c.(1735-1737)TTC>TTT p.F579F FGFR3_uc003gdu.2_Silent_p.F581F|FGFR3_uc003gds.3_Silent_p.F467F|FGFR3_uc003gdq.3_Silent_p.F580F NM_000142 NP_000133 P22607 FGFR3_HUMAN fibroblast growth factor receptor 3 isoform 1 579 Protein kinase.|Cytoplasmic (Potential). bone maturation|cell growth|insulin receptor signaling pathway|JAK-STAT cascade|MAPKKK cascade|negative regulation of developmental growth|positive regulation of cell proliferation integral to plasma membrane ATP binding|fibroblast growth factor binding|fibroblast growth factor receptor activity|identical protein binding urinary_tract(2177)|skin(314)|upper_aerodigestive_tract(57)|haematopoietic_and_lymphoid_tissue(24)|prostate(9)|cervix(6)|central_nervous_system(4)|large_intestine(3)|lung(3)|testis(2)|pancreas(1) 2600 Breast(71;0.212)|all_epithelial(65;0.241) all cancers(2;0.000145)|OV - Ovarian serous cystadenocarcinoma(23;0.0019)|Epithelial(3;0.00221)|GBM - Glioblastoma multiforme(2;0.234) Palifermin(DB00039) ACTACTCCTTCGACACCTGCA 0.562000 1 Mis|T IGH@|ETV6 bladder|MM|T-cell lymphoma Hypochondroplasia|Thanatophoric dysplasia Muenke_syndrome|Saethre-Chotzen_syndrome EVC 2121 broad.mit.edu 37 4 5735085 5735085 + Missense_Mutation SNP G G A TCGA-BR-8369-01A-11D-2340-08 TCGA-BR-8369-10A-01D-2341-08 Untested Somatic Phase_I WXS none Illumina GAIIx 289a4096-4e30-4505-a60b-7c3a89da7ee6 acc4a8fb-74bb-4009-b4b7-23941bc1469a g.chr4:5735085G>A uc003gil.1 + 5 809 c.625G>A c.(625-627)GTT>ATT p.V209I EVC_uc003gim.1_RNA NM_153717 NP_714928 P57679 EVC_HUMAN Ellis van Creveld syndrome protein 209 muscle organ development integral to membrane ovary(1)|skin(1) 2 Myeloproliferative disorder(84;0.117) CAGTGTAGACGTTGACCTGTG 0.453000 CRMP1 1400 broad.mit.edu 37 4 5838597 5838597 + Silent SNP G G A TCGA-BR-8369-01A-11D-2340-08 TCGA-BR-8369-10A-01D-2341-08 Untested Somatic Phase_I WXS none Illumina GAIIx 289a4096-4e30-4505-a60b-7c3a89da7ee6 acc4a8fb-74bb-4009-b4b7-23941bc1469a g.chr4:5838597G>A uc003gip.2 - 11 1106 c.1005C>T c.(1003-1005)CCC>CCT p.P335P CRMP1_uc003gin.1_Silent_p.P247P|CRMP1_uc003giq.2_Silent_p.P335P|CRMP1_uc003gir.2_Silent_p.P330P|CRMP1_uc003gis.2_Silent_p.P449P NM_001313 NP_001304 Q14194 DPYL1_HUMAN collapsin response mediator protein 1 isoform 2 335 axon guidance|pyrimidine base catabolic process cytosol|microtubule organizing center|spindle dihydropyrimidinase activity|protein binding ovary(2) 2 Colorectal(103;0.0721) CAGTGCTGTAGGGACAGTGGC 0.562000 LDB2 9079 broad.mit.edu 37 4 16590368 16590368 + Nonsense_Mutation SNP G G A TCGA-BR-8369-01A-11D-2340-08 TCGA-BR-8369-10A-01D-2341-08 Untested Somatic Phase_I WXS none Illumina GAIIx 289a4096-4e30-4505-a60b-7c3a89da7ee6 acc4a8fb-74bb-4009-b4b7-23941bc1469a g.chr4:16590368G>A uc003goz.2 - 4 812 c.496C>T c.(496-498)CGA>TGA p.R166* LDB2_uc003gpa.2_Nonsense_Mutation_p.R166*|LDB2_uc003gpb.2_Nonsense_Mutation_p.R166*|LDB2_uc011bxh.1_Nonsense_Mutation_p.R166*|LDB2_uc010iee.2_Nonsense_Mutation_p.R166*|LDB2_uc003goy.2_Nonsense_Mutation_p.R42*|LDB2_uc011bxi.1_Nonsense_Mutation_p.R42* NM_001290 NP_001281 O43679 LDB2_HUMAN LIM domain binding 2 isoform a 166 LIM domain binding|transcription cofactor activity 0 ACTAACTCTCGGTATTGTCTA 0.393000 CCDC158 339965 broad.mit.edu 37 4 77283351 77283351 + Missense_Mutation SNP C C G TCGA-BR-8369-01A-11D-2340-08 TCGA-BR-8369-10A-01D-2341-08 Untested Somatic Phase_I WXS none Illumina GAIIx 289a4096-4e30-4505-a60b-7c3a89da7ee6 acc4a8fb-74bb-4009-b4b7-23941bc1469a g.chr4:77283351C>G uc003hkb.3 - 12 2101 c.1948G>C c.(1948-1950)GAC>CAC p.D650H NM_001042784 NP_001036249 Q5M9N0 CD158_HUMAN coiled-coil domain containing 158 650 Potential. skin(3)|ovary(2)|pancreas(1) 6 TGTTTGATGTCCTTCACTGCA 0.448000 EMCN 51705 broad.mit.edu 37 4 101338291 101338291 + Silent SNP T T C TCGA-BR-8369-01A-11D-2340-08 TCGA-BR-8369-10A-01D-2341-08 Untested Somatic Phase_I WXS none Illumina GAIIx 289a4096-4e30-4505-a60b-7c3a89da7ee6 acc4a8fb-74bb-4009-b4b7-23941bc1469a g.chr4:101338291T>C uc003hvr.2 - 9 851 c.672A>G c.(670-672)CCA>CCG p.P224P EMCN_uc011cel.1_Silent_p.P211P|EMCN_uc011cem.1_Silent_p.P141P NM_016242 NP_057326 Q9ULC0 MUCEN_HUMAN endomucin isoform 1 224 Cytoplasmic (Potential). extracellular region|integral to membrane|plasma membrane 0 OV - Ovarian serous cystadenocarcinoma(123;2.49e-08) TTCCATTTTCTGGTGTGCCTA 0.398000 ENPEP 2028 broad.mit.edu 37 4 111441511 111441511 + Silent SNP T T C TCGA-BR-8369-01A-11D-2340-08 TCGA-BR-8369-10A-01D-2341-08 Untested Somatic Phase_I WXS none Illumina GAIIx 289a4096-4e30-4505-a60b-7c3a89da7ee6 acc4a8fb-74bb-4009-b4b7-23941bc1469a g.chr4:111441511T>C uc003iab.3 + 10 2058 c.1716T>C c.(1714-1716)CCT>CCC p.P572P NM_001977 NP_001968 Q07075 AMPE_HUMAN glutamyl aminopeptidase 572 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) CTCAGCCCCCTTCAGATCTTG 0.408000 KIAA1109 84162 broad.mit.edu 37 4 123161243 123161243 + Nonsense_Mutation SNP T T G TCGA-BR-8369-01A-11D-2340-08 TCGA-BR-8369-10A-01D-2341-08 Untested Somatic Phase_I WXS none Illumina GAIIx 289a4096-4e30-4505-a60b-7c3a89da7ee6 acc4a8fb-74bb-4009-b4b7-23941bc1469a g.chr4:123161243T>G uc003ieh.2 + 27 4451 c.4406T>G c.(4405-4407)TTA>TGA p.L1469* KIAA1109_uc003iei.1_Nonsense_Mutation_p.L1222*|KIAA1109_uc010ins.1_Nonsense_Mutation_p.L812*|KIAA1109_uc003iek.2_Nonsense_Mutation_p.L88* NM_015312 NP_056127 Q2LD37 K1109_HUMAN fragile site-associated protein 1469 regulation of cell growth|regulation of epithelial cell differentiation integral to membrane|nucleus ovary(8)|skin(2)|pancreas(1)|central_nervous_system(1) 12 GTTTCTGCGTTAGGTGGAGAA 0.418000 SDHA 6389 broad.mit.edu 37 5 236617 236617 + Silent SNP G G A TCGA-BR-8369-01A-11D-2340-08 TCGA-BR-8369-10A-01D-2341-08 Untested Somatic Phase_I WXS none Illumina GAIIx 289a4096-4e30-4505-a60b-7c3a89da7ee6 acc4a8fb-74bb-4009-b4b7-23941bc1469a g.chr5:236617G>A uc003jao.3 + 10 1450 c.1335G>A c.(1333-1335)TCG>TCA p.S445S SDHA_uc011clv.1_Silent_p.S445S|SDHA_uc011clw.1_Silent_p.S397S|SDHA_uc003jap.3_Silent_p.S445S|SDHA_uc003jaq.3_Silent_p.S220S|SDHA_uc003jar.3_Silent_p.S39S NM_004168 NP_004159 P31040 DHSA_HUMAN succinate dehydrogenase complex, subunit A, 445 nervous system development|respiratory electron transport chain|succinate metabolic process|transport|tricarboxylic acid cycle mitochondrial respiratory chain complex II electron carrier activity|flavin adenine dinucleotide binding|protein binding|succinate dehydrogenase (ubiquinone) activity 0 Epithelial(17;0.0159)|all cancers(22;0.0236)|OV - Ovarian serous cystadenocarcinoma(19;0.0674)|Lung(60;0.113) Succinic acid(DB00139) CCTGTGCCTCGGTACATGGTG 0.597000 Familial_Paragangliomas SPEF2 79925 broad.mit.edu 37 5 35759705 35759705 + Silent SNP C C G TCGA-BR-8369-01A-11D-2340-08 TCGA-BR-8369-10A-01D-2341-08 Untested Somatic Phase_I WXS none Illumina GAIIx 289a4096-4e30-4505-a60b-7c3a89da7ee6 acc4a8fb-74bb-4009-b4b7-23941bc1469a g.chr5:35759705C>G uc003jjo.2 + 25 3615 c.3504C>G c.(3502-3504)CTC>CTG p.L1168L SPEF2_uc003jjp.1_Silent_p.L654L NM_024867 NP_079143 Q9C093 SPEF2_HUMAN KPL2 protein isoform 1 1168 nucleobase, nucleoside, nucleotide and nucleic acid metabolic process ATP binding|nucleobase, nucleoside, nucleotide kinase activity|protein dimerization activity skin(2)|ovary(1)|central_nervous_system(1) 4 all_lung(31;7.56e-05) Lung(74;0.111)|COAD - Colon adenocarcinoma(61;0.14)|Colorectal(62;0.202) CAAAGAGACTCCTTCAAGATT 0.373000 PTGER4 5734 broad.mit.edu 37 5 40681868 40681868 + Missense_Mutation SNP G G A TCGA-BR-8369-01A-11D-2340-08 TCGA-BR-8369-10A-01D-2341-08 Untested Somatic Phase_I WXS none Illumina GAIIx 289a4096-4e30-4505-a60b-7c3a89da7ee6 acc4a8fb-74bb-4009-b4b7-23941bc1469a g.chr5:40681868G>A uc003jlz.2 + 2 1365 c.773G>A c.(772-774)CGG>CAG p.R258Q NM_000958 NP_000949 P35408 PE2R4_HUMAN prostaglandin E receptor 4, subtype EP4 258 Cytoplasmic (Potential). G-protein signaling, coupled to cAMP nucleotide second messenger|immune response integral to membrane|plasma membrane prostaglandin E receptor activity lung(2) 2 CGGCGCCGCCGGAGCTTCCGC 0.706000 GPBP1 65056 broad.mit.edu 37 5 56542945 56542945 + Missense_Mutation SNP C C T TCGA-BR-8369-01A-11D-2340-08 TCGA-BR-8369-10A-01D-2341-08 Untested Somatic Phase_I WXS none Illumina GAIIx 289a4096-4e30-4505-a60b-7c3a89da7ee6 acc4a8fb-74bb-4009-b4b7-23941bc1469a g.chr5:56542945C>T uc003jrh.3 + 8 1981 c.707C>T c.(706-708)ACT>ATT p.T236I GPBP1_uc010iwg.2_Missense_Mutation_p.T256I|GPBP1_uc003jri.3_Missense_Mutation_p.T65I|GPBP1_uc003jrj.3_Missense_Mutation_p.T243I|GPBP1_uc003jrk.3_Missense_Mutation_p.T243I|GPBP1_uc003jrl.3_RNA NM_022913 NP_075064 Q86WP2 GPBP1_HUMAN GC-rich promoter binding protein 1 isoform 1 236 regulation of transcription, DNA-dependent|transcription, DNA-dependent cytoplasm|nucleus DNA binding large_intestine(1)|central_nervous_system(1) 2 Lung NSC(810;0.000861)|Prostate(74;0.0305)|Breast(144;0.222) OV - Ovarian serous cystadenocarcinoma(10;7.64e-39) AAAGTTGGAACTTCTTTCCCT 0.358000 RHOBTB3 22836 broad.mit.edu 37 5 95072640 95072640 + Silent SNP C C T TCGA-BR-8369-01A-11D-2340-08 TCGA-BR-8369-10A-01D-2341-08 Untested Somatic Phase_I WXS none Illumina GAIIx 289a4096-4e30-4505-a60b-7c3a89da7ee6 acc4a8fb-74bb-4009-b4b7-23941bc1469a g.chr5:95072640C>T uc003klm.2 + 3 813 c.276C>T c.(274-276)GGC>GGT p.G92G RHOBTB3_uc003klk.1_5'UTR NM_014899 NP_055714 O94955 RHBT3_HUMAN rho-related BTB domain containing 3 92 Rho-like. retrograde transport, endosome to Golgi Golgi apparatus ATP binding|ATPase activity|Rab GTPase binding lung(1)|skin(1) 2 all_cancers(142;2.58e-06)|all_epithelial(76;4.19e-09)|all_lung(232;0.00307)|Lung NSC(167;0.00452)|Ovarian(225;0.0164)|Colorectal(57;0.0846)|Breast(839;0.198) all cancers(79;8.79e-16) TAATTGGGGGCGCTGACATCA 0.338000 ST8SIA4 7903 broad.mit.edu 37 5 100147763 100147763 + Missense_Mutation SNP T T C TCGA-BR-8369-01A-11D-2340-08 TCGA-BR-8369-10A-01D-2341-08 Untested Somatic Phase_I WXS none Illumina GAIIx 289a4096-4e30-4505-a60b-7c3a89da7ee6 acc4a8fb-74bb-4009-b4b7-23941bc1469a g.chr5:100147763T>C uc003knk.2 - 5 1196 c.868A>G c.(868-870)AGA>GGA p.R290G NM_005668 NP_005659 Q92187 SIA8D_HUMAN ST8 alpha-N-acetyl-neuraminide 290 Lumenal (Potential). axon guidance|N-glycan processing integral to Golgi membrane alpha-N-acetylneuraminate alpha-2,8-sialyltransferase activity large_intestine(1)|central_nervous_system(1) 2 all_cancers(142;1.5e-07)|all_epithelial(76;1.43e-10)|Prostate(80;0.000644)|Lung NSC(167;0.0059)|all_lung(232;0.00914)|Ovarian(225;0.024)|Colorectal(57;0.09)|Breast(839;0.203) COAD - Colon adenocarcinoma(37;0.00402) TCACAGAATCTTGTGGCAAGT 0.363000 SEPT8 23176 broad.mit.edu 37 5 132097231 132097231 + Missense_Mutation SNP C C T TCGA-BR-8369-01A-11D-2340-08 TCGA-BR-8369-10A-01D-2341-08 Untested Somatic Phase_I WXS none Illumina GAIIx 289a4096-4e30-4505-a60b-7c3a89da7ee6 acc4a8fb-74bb-4009-b4b7-23941bc1469a g.chr5:132097231C>T uc003kxr.2 - 7 1119 c.881G>A c.(880-882)AGC>AAC p.S294N SEPT8_uc003kxs.1_Missense_Mutation_p.S294N|SEPT8_uc003kxu.2_Missense_Mutation_p.S294N|SEPT8_uc011cxi.1_Missense_Mutation_p.S292N|SEPT8_uc003kxv.2_Missense_Mutation_p.S292N|SEPT8_uc003kxt.2_Missense_Mutation_p.S234N NM_001098811 NP_001092281 Q92599 SEPT8_HUMAN septin 8 isoform a 294 cell cycle septin complex GTP binding|protein binding ovary(2) 2 all_cancers(142;0.0751)|Breast(839;0.198) KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365) GTAGTGCCGGCTGTGGGTCTG 0.587000 HTR4 3360 broad.mit.edu 37 5 147889194 147889194 + Missense_Mutation SNP C C T TCGA-BR-8369-01A-11D-2340-08 TCGA-BR-8369-10A-01D-2341-08 Untested Somatic Phase_I WXS none Illumina GAIIx 289a4096-4e30-4505-a60b-7c3a89da7ee6 acc4a8fb-74bb-4009-b4b7-23941bc1469a g.chr5:147889194C>T uc003lpn.2 - 6 1065 c.901G>A c.(901-903)GGC>AGC p.G301S HTR4_uc010jgu.1_RNA|HTR4_uc003lpi.1_Missense_Mutation_p.G301S|HTR4_uc003lpj.1_Missense_Mutation_p.G301S|HTR4_uc003lpk.2_Missense_Mutation_p.G301S|HTR4_uc011dby.1_Missense_Mutation_p.G301S|HTR4_uc003lpl.2_Missense_Mutation_p.G315S|HTR4_uc003lpm.2_Missense_Mutation_p.G301S|HTR4_uc010jgv.2_RNA|HTR4_uc003lpo.1_Missense_Mutation_p.G301S NM_000870 NP_000861 Q13639 5HT4R_HUMAN serotonin 5-HT4 receptor isoform b 301 Helical; Name=7; (By similarity). G-protein signaling, coupled to cyclic nucleotide second messenger|positive regulation of cell proliferation endosome|integral to plasma membrane|membrane fraction serotonin receptor activity ovary(1) 1 KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191) Cisapride(DB00604)|Rizatriptan(DB00953)|Tegaserod(DB01079)|Zolmitriptan(DB00315) TTGATATAGCCGAGCCAGAGG 0.488000 KIAA1191 57179 broad.mit.edu 37 5 175774615 175774615 + Silent SNP G G A TCGA-BR-8369-01A-11D-2340-08 TCGA-BR-8369-10A-01D-2341-08 Untested Somatic Phase_I WXS none Illumina GAIIx 289a4096-4e30-4505-a60b-7c3a89da7ee6 acc4a8fb-74bb-4009-b4b7-23941bc1469a g.chr5:175774615G>A uc003mdw.2 - 9 1278 c.906C>T c.(904-906)CCC>CCT p.P302P KIAA1191_uc003mdx.2_Silent_p.P283P|KIAA1191_uc003mdy.2_Silent_p.P302P|KIAA1191_uc003mea.2_Silent_p.P95P|KIAA1191_uc003mdz.2_RNA NM_020444 NP_065177 Q96A73 K1191_HUMAN hypothetical protein LOC57179 isoform a 302 protein binding ovary(1) 1 all_cancers(89;0.00575)|Renal(175;0.000269)|Lung NSC(126;0.0105)|all_lung(126;0.0168) Medulloblastoma(196;0.0208)|all_neural(177;0.0416)|all_hematologic(541;0.214) Kidney(164;3.85e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178) Kidney(146;0.101) AGAAGCCAGTGGGTGTGAGCA 0.507000 SLC17A1 6568 broad.mit.edu 37 6 25819308 25819308 + Missense_Mutation SNP A A G TCGA-BR-8369-01A-11D-2340-08 TCGA-BR-8369-10A-01D-2341-08 Untested Somatic Phase_I WXS none Illumina GAIIx 289a4096-4e30-4505-a60b-7c3a89da7ee6 acc4a8fb-74bb-4009-b4b7-23941bc1469a g.chr6:25819308A>G uc003nfh.3 - 6 720 c.604T>C c.(604-606)TTC>CTC p.F202L SLC17A1_uc011djy.1_RNA|SLC17A1_uc010jqb.1_Missense_Mutation_p.F200L|SLC17A1_uc010jqc.1_Missense_Mutation_p.F200L NM_005074 NP_005065 Q14916 NPT1_HUMAN solute carrier family 17 (sodium phosphate), 202 Helical; (Potential). sodium ion transport|urate metabolic process integral to plasma membrane|membrane fraction sodium-dependent phosphate transmembrane transporter activity|symporter activity ovary(3)|pancreas(1) 4 AAAATATAGAAGACCATGGGC 0.343000 NOTCH4 4855 broad.mit.edu 37 6 32169879 32169879 + Silent SNP G G A TCGA-BR-8369-01A-11D-2340-08 TCGA-BR-8369-10A-01D-2341-08 Untested Somatic Phase_I WXS none Illumina GAIIx 289a4096-4e30-4505-a60b-7c3a89da7ee6 acc4a8fb-74bb-4009-b4b7-23941bc1469a g.chr6:32169879G>A uc003obb.2 - 21 3868 c.3729C>T c.(3727-3729)TAC>TAT p.Y1243Y NOTCH4_uc003oba.2_Translation_Start_Site|NOTCH4_uc011dpu.1_Intron|NOTCH4_uc011dpv.1_Intron NM_004557 NP_004548 Q99466 NOTC4_HUMAN notch4 preproprotein 1243 LNR 2.|Extracellular (Potential). cell fate determination|embryo development|hemopoiesis|mammary gland development|negative regulation of endothelial cell differentiation|Notch receptor processing|Notch signaling pathway|patterning of blood vessels|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent cell surface|cytosol|endoplasmic reticulum lumen|extracellular region|Golgi lumen|integral to plasma membrane|nucleoplasm calcium ion binding|protein heterodimerization activity|receptor activity lung(8)|ovary(5)|breast(4)|central_nervous_system(3)|upper_aerodigestive_tract(1)|skin(1) 22 TCTCACAGTCGTAGCCATCAA 0.612000 HLA-DQA2 3118 broad.mit.edu 37 6 32713088 32713088 + Missense_Mutation SNP A A C TCGA-BR-8369-01A-11D-2340-08 TCGA-BR-8369-10A-01D-2341-08 Untested Somatic Phase_I WXS none Illumina GAIIx 289a4096-4e30-4505-a60b-7c3a89da7ee6 acc4a8fb-74bb-4009-b4b7-23941bc1469a g.chr6:32713088A>C uc003obx.2 + 2 293 c.235A>C c.(235-237)AGT>CGT p.S79R NM_020056 NP_064440 P01906 DQA2_HUMAN major histocompatibility complex, class II, DQ 79 Extracellular (Potential).|Alpha-1. antigen processing and presentation of peptide or polysaccharide antigen via MHC class II|interferon-gamma-mediated signaling pathway|T cell costimulation|T cell receptor signaling pathway endoplasmic reticulum membrane|endosome membrane|Golgi apparatus|integral to plasma membrane|lysosomal membrane|MHC class II protein complex MHC class II receptor activity 0 Insulin Glargine recombinant(DB00047)|Insulin Lyspro recombinant(DB00046)|Insulin recombinant(DB00030)|Insulin, porcine(DB00071) CAAATTTATAAGTTTTGACCC 0.468000 SPDEF 25803 broad.mit.edu 37 6 34512202 34512202 + Missense_Mutation SNP C C T TCGA-BR-8369-01A-11D-2340-08 TCGA-BR-8369-10A-01D-2341-08 Untested Somatic Phase_I WXS none Illumina GAIIx 289a4096-4e30-4505-a60b-7c3a89da7ee6 acc4a8fb-74bb-4009-b4b7-23941bc1469a g.chr6:34512202C>T uc003ojq.1 - 2 446 c.31G>A c.(31-33)GTA>ATA p.V11I SPDEF_uc011dsq.1_Missense_Mutation_p.V11I NM_012391 NP_036523 O95238 SPDEF_HUMAN SAM pointed domain containing ets transcription 11 negative regulation of survival gene product expression|negative regulation of transcription from RNA polymerase II promoter nucleus sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity skin(3)|ovary(1)|central_nervous_system(1) 5 CTGGGGGATACGCTGCTCAGA 0.657000 CD2AP 23607 broad.mit.edu 37 6 47471062 47471062 + Silent SNP A A G TCGA-BR-8369-01A-11D-2340-08 TCGA-BR-8369-10A-01D-2341-08 Untested Somatic Phase_I WXS none Illumina GAIIx 289a4096-4e30-4505-a60b-7c3a89da7ee6 acc4a8fb-74bb-4009-b4b7-23941bc1469a g.chr6:47471062A>G uc003oyw.2 + 2 507 c.51A>G c.(49-51)GAA>GAG p.E17E NM_012120 NP_036252 Q9Y5K6 CD2AP_HUMAN CD2-associated protein 17 Interaction with ANLN and localization to the midbody.|SH3 1; truncated. cell division|mitosis|protein complex assembly|signal transduction|substrate-dependent cell migration, cell extension cytoplasm|filamentous actin|nucleolus|plasma membrane|ruffle SH3 domain binding|structural constituent of cytoskeleton ovary(1)|skin(1) 2 Lung(136;0.105)|LUSC - Lung squamous cell carcinoma(51;0.138) ATGATGATGAATTAACTATTC 0.373000 C6orf168 84553 broad.mit.edu 37 6 99771484 99771484 + Missense_Mutation SNP A A T TCGA-BR-8369-01A-11D-2340-08 TCGA-BR-8369-10A-01D-2341-08 Untested Somatic Phase_I WXS none Illumina GAIIx 289a4096-4e30-4505-a60b-7c3a89da7ee6 acc4a8fb-74bb-4009-b4b7-23941bc1469a g.chr6:99771484A>T uc003ppj.3 - 4 942 c.659T>A c.(658-660)CTT>CAT p.L220H C6orf168_uc003ppi.3_Intron NM_032511 NP_115900 Q5TGI0 CF168_HUMAN hypothetical protein LOC84553 220 ovary(2)|central_nervous_system(1) 3 all_cancers(76;1.63e-06)|Acute lymphoblastic leukemia(125;5.12e-11)|all_hematologic(75;5.82e-08)|all_epithelial(107;0.00898)|Colorectal(196;0.0699)|Lung NSC(302;0.198) BRCA - Breast invasive adenocarcinoma(108;0.073) ACCACCACTAAGAGAGAGCAT 0.512000 LAMA2 3908 broad.mit.edu 37 6 129475706 129475706 + Silent SNP A A C TCGA-BR-8369-01A-11D-2340-08 TCGA-BR-8369-10A-01D-2341-08 Untested Somatic Phase_I WXS none Illumina GAIIx 289a4096-4e30-4505-a60b-7c3a89da7ee6 acc4a8fb-74bb-4009-b4b7-23941bc1469a g.chr6:129475706A>C uc003qbn.2 + 8 1189 c.1084A>C c.(1084-1086)AGA>CGA p.R362R LAMA2_uc003qbo.2_Silent_p.R362R NM_000426 NP_000417 P24043 LAMA2_HUMAN laminin alpha 2 subunit isoform a precursor 362 Laminin EGF-like 2. cell adhesion|muscle organ development|regulation of cell adhesion|regulation of cell migration|regulation of embryonic development laminin-1 complex receptor binding|structural molecule activity ovary(8)|breast(1)|skin(1) 10 OV - Ovarian serous cystadenocarcinoma(136;0.178)|all cancers(137;0.245) TGTTGCCAGAAGAAATCTGAG 0.348000 C6orf191 253582 broad.mit.edu 37 6 130164750 130164750 + Splice_Site SNP T T G TCGA-BR-8369-01A-11D-2340-08 TCGA-BR-8369-10A-01D-2341-08 Untested Somatic Phase_I WXS none Illumina GAIIx 289a4096-4e30-4505-a60b-7c3a89da7ee6 acc4a8fb-74bb-4009-b4b7-23941bc1469a g.chr6:130164750T>G uc003qbs.2 - 3 203 c.120_splice c.e3-1 p.E40_splice NM_001010876 NP_001010876 Q5VVB8 CF191_HUMAN hypothetical protein LOC253582 integral to membrane large_intestine(1) 1 GBM - Glioblastoma multiforme(226;0.0387)|all cancers(137;0.115)|OV - Ovarian serous cystadenocarcinoma(155;0.131) TCATGCACCCTAAAGATGTTA 0.333000 CCDC28A 25901 broad.mit.edu 37 6 139101111 139101111 + Missense_Mutation SNP T T G TCGA-BR-8369-01A-11D-2340-08 TCGA-BR-8369-10A-01D-2341-08 Untested Somatic Phase_I WXS none Illumina GAIIx 289a4096-4e30-4505-a60b-7c3a89da7ee6 acc4a8fb-74bb-4009-b4b7-23941bc1469a g.chr6:139101111T>G uc003qie.2 + 3 736 c.581T>G c.(580-582)CTT>CGT p.L194R NM_015439 NP_056254 Q8IWP9 CC28A_HUMAN coiled-coil domain containing 28A 194 0 OV - Ovarian serous cystadenocarcinoma(155;0.000201)|GBM - Glioblastoma multiforme(68;0.000306) TCTGGAAAACTTCAAGCATTT 0.393000 THSD7A 221981 broad.mit.edu 37 7 11446010 11446010 + Missense_Mutation SNP T T G TCGA-BR-8369-01A-11D-2340-08 TCGA-BR-8369-10A-01D-2341-08 Untested Somatic Phase_I WXS none Illumina GAIIx 289a4096-4e30-4505-a60b-7c3a89da7ee6 acc4a8fb-74bb-4009-b4b7-23941bc1469a g.chr7:11446010T>G uc003ssf.3 - 21 4406 c.4154A>C c.(4153-4155)GAG>GCG p.E1385A NM_015204 NP_056019 Q9UPZ6 THS7A_HUMAN thrombospondin, type I, domain containing 7A 1385 TSP type-1 14.|Extracellular (Potential). integral to membrane ovary(3) 3 UCEC - Uterine corpus endometrioid carcinoma (126;0.163) ACAGAATTCCTCATCCACCAC 0.463000 HNSCC(18;0.044) OSBPL3 26031 broad.mit.edu 37 7 24905012 24905012 + Nonsense_Mutation SNP G G A TCGA-BR-8369-01A-11D-2340-08 TCGA-BR-8369-10A-01D-2341-08 Untested Somatic Phase_I WXS none Illumina GAIIx 289a4096-4e30-4505-a60b-7c3a89da7ee6 acc4a8fb-74bb-4009-b4b7-23941bc1469a g.chr7:24905012G>A uc003sxf.2 - 7 1027 c.622C>T c.(622-624)CGA>TGA p.R208* OSBPL3_uc003sxd.2_RNA|OSBPL3_uc003sxe.2_RNA|OSBPL3_uc003sxg.2_Nonsense_Mutation_p.R208*|OSBPL3_uc003sxh.2_Nonsense_Mutation_p.R208*|OSBPL3_uc003sxi.2_Nonsense_Mutation_p.R208* NM_015550 NP_056365 Q9H4L5 OSBL3_HUMAN oxysterol-binding protein-like protein 3 isoform 208 lipid transport lipid binding|protein binding skin(1) 1 AATGGAACTCGTGTCTCACCA 0.403000 PDE1C 5137 broad.mit.edu 37 7 31920359 31920359 + Splice_Site SNP C C G TCGA-BR-8369-01A-11D-2340-08 TCGA-BR-8369-10A-01D-2341-08 Untested Somatic Phase_I WXS none Illumina GAIIx 289a4096-4e30-4505-a60b-7c3a89da7ee6 acc4a8fb-74bb-4009-b4b7-23941bc1469a g.chr7:31920359C>G uc003tcm.1 - 3 711 c.242_splice c.e3+1 p.R81_splice PDE1C_uc003tcn.1_Splice_Site_p.R81_splice|PDE1C_uc003tco.1_Splice_Site_p.R141_splice|PDE1C_uc003tcr.2_Splice_Site_p.R81_splice|PDE1C_uc003tcs.2_Splice_Site_p.R81_splice NM_005020 NP_005011 Q14123 PDE1C_HUMAN phosphodiesterase 1C activation of phospholipase C activity|nerve growth factor receptor signaling pathway cytosol calmodulin binding|calmodulin-dependent cyclic-nucleotide phosphodiesterase activity|metal ion binding skin(3)|central_nervous_system(1) 4 GBM - Glioblastoma multiforme(11;0.216) TTTTAGCTTACCTTGTTTCAT 0.363000 HECW1 23072 broad.mit.edu 37 7 43483816 43483816 + Splice_Site SNP G G T TCGA-BR-8369-01A-11D-2340-08 TCGA-BR-8369-10A-01D-2341-08 Untested Somatic Phase_I WXS none Illumina GAIIx 289a4096-4e30-4505-a60b-7c3a89da7ee6 acc4a8fb-74bb-4009-b4b7-23941bc1469a g.chr7:43483816G>T uc003tid.1 + 11 1651 c.1046_splice c.e11-1 p.D349_splice HECW1_uc011kbi.1_Splice_Site_p.D349_splice NM_015052 NP_055867 Q76N89 HECW1_HUMAN NEDD4-like ubiquitin-protein ligase 1 protein ubiquitination involved in ubiquitin-dependent protein catabolic process cytoplasm|nucleus ubiquitin-protein ligase activity ovary(8)|lung(6)|breast(4)|skin(4)|pancreas(1) 23 CTTACCAGCAGATGATGAGGA 0.488000 GRM3 2913 broad.mit.edu 37 7 86415969 86415969 + Silent SNP C C T TCGA-BR-8369-01A-11D-2340-08 TCGA-BR-8369-10A-01D-2341-08 Untested Somatic Phase_I WXS none Illumina GAIIx 289a4096-4e30-4505-a60b-7c3a89da7ee6 acc4a8fb-74bb-4009-b4b7-23941bc1469a g.chr7:86415969C>T uc003uid.2 + 3 1960 c.861C>T c.(859-861)GCC>GCT p.A287A GRM3_uc010lef.2_Silent_p.A285A|GRM3_uc010leg.2_Silent_p.A159A|GRM3_uc010leh.2_Intron NM_000840 NP_000831 Q14832 GRM3_HUMAN glutamate receptor, metabotropic 3 precursor 287 Extracellular (Potential). synaptic transmission integral to plasma membrane lung(4)|ovary(3)|central_nervous_system(2)|skin(2)|haematopoietic_and_lymphoid_tissue(1)|prostate(1) 13 Esophageal squamous(14;0.0058)|all_lung(186;0.132)|Lung NSC(181;0.142) Acamprosate(DB00659)|Nicotine(DB00184) TCATTGCAGCCGCCAGCCGCG 0.662000 C7orf58 79974 broad.mit.edu 37 7 120629879 120629879 + Missense_Mutation SNP C C A TCGA-BR-8369-01A-11D-2340-08 TCGA-BR-8369-10A-01D-2341-08 Untested Somatic Phase_I WXS none Illumina GAIIx 289a4096-4e30-4505-a60b-7c3a89da7ee6 acc4a8fb-74bb-4009-b4b7-23941bc1469a g.chr7:120629879C>A uc003vjq.3 + 2 651 c.204C>A c.(202-204)GAC>GAA p.D68E C7orf58_uc003vjr.1_Missense_Mutation_p.D68E|C7orf58_uc003vjs.3_Missense_Mutation_p.D68E NM_024913 NP_079189 A4D0V7 CG058_HUMAN hypothetical protein LOC79974 isoform 1 68 endoplasmic reticulum ovary(4)|large_intestine(2)|skin(2)|pancreas(1) 9 all_neural(327;0.117) TCTCTCAGGACAAACAGTGCT 0.517000 PLXNA4 91584 broad.mit.edu 37 7 131853325 131853325 + Missense_Mutation SNP C C A TCGA-BR-8369-01A-11D-2340-08 TCGA-BR-8369-10A-01D-2341-08 Untested Somatic Phase_I WXS none Illumina GAIIx 289a4096-4e30-4505-a60b-7c3a89da7ee6 acc4a8fb-74bb-4009-b4b7-23941bc1469a g.chr7:131853325C>A uc003vra.3 - 22 4253 c.4024G>T c.(4024-4026)GGC>TGC p.G1342C NM_020911 NP_065962 Q9HCM2 PLXA4_HUMAN plexin A4 isoform 1 1342 Cytoplasmic (Potential). integral to membrane|intracellular|plasma membrane ovary(1) 1 TGCCGGTAGCCCGGGACCTGC 0.597000 TRPV5 56302 broad.mit.edu 37 7 142626594 142626594 + Missense_Mutation SNP C C T TCGA-BR-8369-01A-11D-2340-08 TCGA-BR-8369-10A-01D-2341-08 Untested Somatic Phase_I WXS none Illumina GAIIx 289a4096-4e30-4505-a60b-7c3a89da7ee6 acc4a8fb-74bb-4009-b4b7-23941bc1469a g.chr7:142626594C>T uc003wby.1 - 4 680 c.416G>A c.(415-417)CGC>CAC p.R139H TRPV5_uc003wbz.2_Missense_Mutation_p.R139H NM_019841 NP_062815 Q9NQA5 TRPV5_HUMAN transient receptor potential cation channel, 139 ANK 3.|Cytoplasmic (Potential). protein tetramerization apical plasma membrane|integral to plasma membrane calcium channel activity ovary(3)|central_nervous_system(2)|skin(1) 6 Melanoma(164;0.059) ACTGGCCCTGCGGGTGAGCAG 0.602000 PRKAG2 51422 broad.mit.edu 37 7 151257696 151257696 + Missense_Mutation SNP C C T rs121908991 TCGA-BR-8369-01A-11D-2340-08 TCGA-BR-8369-10A-01D-2341-08 Untested Somatic Phase_I WXS none Illumina GAIIx 289a4096-4e30-4505-a60b-7c3a89da7ee6 acc4a8fb-74bb-4009-b4b7-23941bc1469a g.chr7:151257696C>T uc003wkk.2 - 15 2203 c.1592G>A c.(1591-1593)CGG>CAG p.R531Q PRKAG2_uc003wki.2_Missense_Mutation_p.R290Q|PRKAG2_uc011kvl.1_Missense_Mutation_p.R406Q|PRKAG2_uc003wkj.2_Missense_Mutation_p.R487Q|PRKAG2_uc003wkl.2_Missense_Mutation_p.R79Q NM_016203 NP_057287 Q9UGJ0 AAKG2_HUMAN AMP-activated protein kinase gamma2 subunit 531 CBS 4. R -> Q (in GSDH; reduction of binding affinities for AMP and ATP; loss of cooperative binding; enhanced basal activity; increased phosphorylation of the alpha-subunit).|R -> G (in WPWS; absence of cardiac hypertrophy; onset in childhood). ATP biosynthetic process|carnitine shuttle|cell cycle arrest|fatty acid biosynthetic process|glycogen metabolic process|insulin receptor signaling pathway|intracellular protein kinase cascade|positive regulation of peptidyl-threonine phosphorylation|positive regulation of protein kinase activity|regulation of fatty acid biosynthetic process|regulation of fatty acid oxidation|regulation of glucose import|regulation of glycolysis|sterol biosynthetic process AMP-activated protein kinase complex|cytosol|nucleoplasm ADP binding|ATP binding|cAMP-dependent protein kinase inhibitor activity|cAMP-dependent protein kinase regulator activity|phosphorylase kinase regulator activity|protein kinase activator activity|protein kinase binding breast(1)|kidney(1) 2 all_neural(206;0.187) all_hematologic(28;0.0605) OV - Ovarian serous cystadenocarcinoma(82;0.00252) UCEC - Uterine corpus endometrioid carcinoma (81;0.185) CACCACCAGCCGATGGACCTG 0.398000 DLC1 10395 broad.mit.edu 37 8 13357033 13357033 + Missense_Mutation SNP A A C TCGA-BR-8369-01A-11D-2340-08 TCGA-BR-8369-10A-01D-2341-08 Untested Somatic Phase_I WXS none Illumina GAIIx 289a4096-4e30-4505-a60b-7c3a89da7ee6 acc4a8fb-74bb-4009-b4b7-23941bc1469a g.chr8:13357033A>C uc003wwm.2 - 2 992 c.548T>G c.(547-549)GTT>GGT p.V183G DLC1_uc003wwn.2_Missense_Mutation_p.V183G|DLC1_uc011kxy.1_Missense_Mutation_p.V183G NM_182643 NP_872584 Q96QB1 RHG07_HUMAN deleted in liver cancer 1 isoform 1 183 actin cytoskeleton organization|activation of caspase activity|focal adhesion assembly|forebrain development|heart morphogenesis|hindbrain morphogenesis|induction of apoptosis|negative regulation of cell migration|negative regulation of cell proliferation|negative regulation of Rho protein signal transduction|negative regulation of stress fiber assembly|neural tube closure|positive regulation of protein dephosphorylation|regulation of cell shape|small GTPase mediated signal transduction caveola|cytosol|focal adhesion|nucleus Rho GTPase activator activity|SH2 domain binding ovary(3)|pancreas(2)|lung(1)|kidney(1) 7 AGAGTCAGTAACTTTTCTCTC 0.393000 MSR1 4481 broad.mit.edu 37 8 16007773 16007773 + Missense_Mutation SNP T T G TCGA-BR-8369-01A-11D-2340-08 TCGA-BR-8369-10A-01D-2341-08 Untested Somatic Phase_I WXS none Illumina GAIIx 289a4096-4e30-4505-a60b-7c3a89da7ee6 acc4a8fb-74bb-4009-b4b7-23941bc1469a g.chr8:16007773T>G uc003wwz.2 - 7 1144 c.946A>C c.(946-948)AGT>CGT p.S316R MSR1_uc010lsu.2_Missense_Mutation_p.S334R|MSR1_uc003wxa.2_Missense_Mutation_p.S316R|MSR1_uc003wxb.2_Missense_Mutation_p.S316R|MSR1_uc011kxz.1_Missense_Mutation_p.S90R NM_138715 NP_619729 P21757 MSRE_HUMAN macrophage scavenger receptor 1 isoform type 1 316 Collagen-like.|Extracellular (Potential). cholesterol transport|plasma lipoprotein particle clearance|positive regulation of cholesterol storage|positive regulation of macrophage derived foam cell differentiation|receptor-mediated endocytosis collagen|integral to plasma membrane|low-density lipoprotein particle low-density lipoprotein particle binding|protein binding|scavenger receptor activity ovary(1) 1 Colorectal(111;0.00475)|COAD - Colon adenocarcinoma(73;0.0164) AGTCCTCGACTTCCAGGAAAG 0.363000 OPRK1 4986 broad.mit.edu 37 8 54147490 54147490 + Missense_Mutation SNP A A C TCGA-BR-8369-01A-11D-2340-08 TCGA-BR-8369-10A-01D-2341-08 Untested Somatic Phase_I WXS none Illumina GAIIx 289a4096-4e30-4505-a60b-7c3a89da7ee6 acc4a8fb-74bb-4009-b4b7-23941bc1469a g.chr8:54147490A>C uc003xrh.1 - 2 814 c.439T>G c.(439-441)TTC>GTC p.F147V OPRK1_uc003xri.1_Missense_Mutation_p.F147V|OPRK1_uc010lyc.1_Missense_Mutation_p.F58V NM_000912 NP_000903 P41145 OPRK_HUMAN opioid receptor, kappa 1 147 Helical; Name=3; (Potential). behavior|immune response|inhibition of adenylate cyclase activity by G-protein signaling pathway|sensory perception|synaptic transmission|viral genome replication integral to plasma membrane kappa-opioid receptor activity|protein binding ovary(1)|skin(1) 2 all_epithelial(80;0.066)|Lung NSC(129;0.0804)|all_lung(136;0.136) Buprenorphine(DB00921)|Butorphanol(DB00611)|Cocaine(DB00907)|Codeine(DB00318)|Dezocine(DB01209)|Hydrocodone(DB00956)|Hydromorphone(DB00327)|Meperidine(DB00454)|Mirtazapine(DB00370)|Morphine(DB00295)|Nalbuphine(DB00844)|Naltrexone(DB00704)|Oxycodone(DB00497)|Pentazocine(DB00652)|Propoxyphene(DB00647)|Tramadol(DB00193) GTCAAGGTGAAGATGCTGGTG 0.473000 ATP6V1H 51606 broad.mit.edu 37 8 54669124 54669124 + Missense_Mutation SNP C C T TCGA-BR-8369-01A-11D-2340-08 TCGA-BR-8369-10A-01D-2341-08 Untested Somatic Phase_I WXS none Illumina GAIIx 289a4096-4e30-4505-a60b-7c3a89da7ee6 acc4a8fb-74bb-4009-b4b7-23941bc1469a g.chr8:54669124C>T uc003xrl.2 - 12 1420 c.1268G>A c.(1267-1269)CGA>CAA p.R423Q ATP6V1H_uc003xrk.2_Missense_Mutation_p.R383Q|ATP6V1H_uc003xrm.2_Missense_Mutation_p.R423Q|ATP6V1H_uc003xrn.2_Missense_Mutation_p.R405Q|ATP6V1H_uc011ldv.1_Missense_Mutation_p.R343Q|ATP6V1H_uc010lyd.2_Missense_Mutation_p.R359Q NM_213620 NP_998785 Q9UI12 VATH_HUMAN ATPase, H+ transporting, lysosomal 50/57kDa, V1 423 ATP hydrolysis coupled proton transport|cellular iron ion homeostasis|endocytosis|insulin receptor signaling pathway|interspecies interaction between organisms|regulation of defense response to virus by virus|transferrin transport|vacuolar acidification|viral reproduction cytosol|plasma membrane|vacuolar proton-transporting V-type ATPase, V1 domain enzyme regulator activity|protein binding|proton-transporting ATPase activity, rotational mechanism 0 all_epithelial(80;0.0487)|Lung NSC(129;0.109)|all_lung(136;0.181) OV - Ovarian serous cystadenocarcinoma(7;2.79e-06)|Epithelial(17;0.000629)|all cancers(17;0.00359) CCGTTTGCCTCGTGGATAATG 0.393000 PKHD1L1 93035 broad.mit.edu 37 8 110509266 110509266 + Missense_Mutation SNP G G T TCGA-BR-8369-01A-11D-2340-08 TCGA-BR-8369-10A-01D-2341-08 Untested Somatic Phase_I WXS none Illumina GAIIx 289a4096-4e30-4505-a60b-7c3a89da7ee6 acc4a8fb-74bb-4009-b4b7-23941bc1469a g.chr8:110509266G>T uc003yne.2 + 64 10550 c.10446G>T c.(10444-10446)TGG>TGT p.W3482C NM_177531 NP_803875 Q86WI1 PKHL1_HUMAN fibrocystin L precursor 3482 PbH1 8.|Extracellular (Potential). 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) TTACCATTTGGACATGCTGGG 0.338000 HNSCC(38;0.096) CSMD3 114788 broad.mit.edu 37 8 113702269 113702269 + Silent SNP T T C TCGA-BR-8369-01A-11D-2340-08 TCGA-BR-8369-10A-01D-2341-08 Untested Somatic Phase_I WXS none Illumina GAIIx 289a4096-4e30-4505-a60b-7c3a89da7ee6 acc4a8fb-74bb-4009-b4b7-23941bc1469a g.chr8:113702269T>C uc003ynu.2 - 14 2142 c.1983A>G c.(1981-1983)AAA>AAG p.K661K CSMD3_uc003yns.2_5'UTR|CSMD3_uc003ynt.2_Silent_p.K621K|CSMD3_uc011lhx.1_Silent_p.K557K NM_198123 NP_937756 Q7Z407 CSMD3_HUMAN CUB and Sushi multiple domains 3 isoform 1 661 Extracellular (Potential). integral to membrane|plasma membrane ovary(21)|lung(11)|skin(11)|kidney(8)|large_intestine(6)|upper_aerodigestive_tract(2)|central_nervous_system(2)|urinary_tract(1)|breast(1) 63 CACAACTTTCTTTCTCAATTT 0.373000 HNSCC(6;0.00088)|TCGA Ovarian(7;0.080) TRPS1 7227 broad.mit.edu 37 8 116632178 116632178 + Missense_Mutation SNP T T G TCGA-BR-8369-01A-11D-2340-08 TCGA-BR-8369-10A-01D-2341-08 Untested Somatic Phase_I WXS none Illumina GAIIx 289a4096-4e30-4505-a60b-7c3a89da7ee6 acc4a8fb-74bb-4009-b4b7-23941bc1469a g.chr8:116632178T>G uc003ynz.2 - 2 567 c.108A>C c.(106-108)GAA>GAC p.E36D TRPS1_uc011lhy.1_Missense_Mutation_p.E40D|TRPS1_uc003yny.2_Missense_Mutation_p.E49D|TRPS1_uc010mcy.2_Missense_Mutation_p.E36D NM_014112 NP_054831 Q9UHF7 TRPS1_HUMAN zinc finger transcription factor TRPS1 36 negative regulation of transcription from RNA polymerase II promoter|NLS-bearing substrate import into nucleus|regulation of chondrocyte differentiation|skeletal system development|transcription from RNA polymerase II promoter nucleus protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding ovary(2)|skin(2)|pancreas(1)|lung(1)|kidney(1) 7 all_cancers(13;5.44e-23)|all_epithelial(1;2.14e-27)|Lung NSC(37;2.55e-05)|Ovarian(258;0.0219) Epithelial(1;9.78e-37)|all cancers(1;3.14e-31)|BRCA - Breast invasive adenocarcinoma(1;2.56e-12) CTGCAGAAAATTCTTTGTTCT 0.438000 Langer-Giedion_syndrome ENPP2 5168 broad.mit.edu 37 8 120577135 120577135 + Missense_Mutation SNP A A C TCGA-BR-8369-01A-11D-2340-08 TCGA-BR-8369-10A-01D-2341-08 Untested Somatic Phase_I WXS none Illumina GAIIx 289a4096-4e30-4505-a60b-7c3a89da7ee6 acc4a8fb-74bb-4009-b4b7-23941bc1469a g.chr8:120577135A>C uc003yot.1 - 23 2278 c.2192T>G c.(2191-2193)GTT>GGT p.V731G ENPP2_uc011lic.1_Missense_Mutation_p.V269G|ENPP2_uc003yor.1_Missense_Mutation_p.V366G|ENPP2_uc003yos.1_Missense_Mutation_p.V783G|ENPP2_uc010mdd.1_Missense_Mutation_p.V756G NM_001040092 NP_001035181 Q13822 ENPP2_HUMAN autotaxin isoform 2 preproprotein 731 cellular component movement|chemotaxis|G-protein coupled receptor protein signaling pathway|immune response|phosphate metabolic process|phosphatidylcholine catabolic process|regulation of cell migration extracellular space|integral to plasma membrane alkylglycerophosphoethanolamine phosphodiesterase activity|calcium ion binding|lysophospholipase activity|nucleic acid binding|nucleotide diphosphatase activity|phosphodiesterase I activity|polysaccharide binding|scavenger receptor activity|transcription factor binding|zinc ion binding ovary(2)|central_nervous_system(2)|upper_aerodigestive_tract(1)|large_intestine(1)|kidney(1) 7 Lung NSC(37;5.03e-06)|Ovarian(258;0.0249)|Hepatocellular(40;0.161) STAD - Stomach adenocarcinoma(47;0.00185) TATCACGTTAACTCCATTTCT 0.358000 KHDRBS3 10656 broad.mit.edu 37 8 136561128 136561128 + Silent SNP A A G TCGA-BR-8369-01A-11D-2340-08 TCGA-BR-8369-10A-01D-2341-08 Untested Somatic Phase_I WXS none Illumina GAIIx 289a4096-4e30-4505-a60b-7c3a89da7ee6 acc4a8fb-74bb-4009-b4b7-23941bc1469a g.chr8:136561128A>G uc003yuv.2 + 4 850 c.456A>G c.(454-456)AAA>AAG p.K152K KHDRBS3_uc003yuw.2_Silent_p.K152K NM_006558 NP_006549 O75525 KHDR3_HUMAN KH domain containing, RNA binding, signal 152 regulation of transcription, DNA-dependent|spermatogenesis|transcription, DNA-dependent nucleus SH3 domain binding ovary(2) 2 all_epithelial(106;2.85e-16)|all_neural(2;2.72e-06)|Lung NSC(106;3.95e-06)|all_lung(105;1.11e-05)|Ovarian(258;0.00579)|Acute lymphoblastic leukemia(118;0.155) BRCA - Breast invasive adenocarcinoma(115;0.247) AAGAAATCAAAAAGTTCCTCA 0.373000 COL22A1 169044 broad.mit.edu 37 8 139890165 139890165 + Silent SNP C C T TCGA-BR-8369-01A-11D-2340-08 TCGA-BR-8369-10A-01D-2341-08 Untested Somatic Phase_I WXS none Illumina GAIIx 289a4096-4e30-4505-a60b-7c3a89da7ee6 acc4a8fb-74bb-4009-b4b7-23941bc1469a g.chr8:139890165C>T uc003yvd.2 - 3 933 c.486G>A c.(484-486)GCG>GCA p.A162A NM_152888 NP_690848 Q8NFW1 COMA1_HUMAN collagen, type XXII, alpha 1 162 Poly-Ala.|VWFA. cell adhesion collagen|cytoplasm structural molecule activity ovary(11)|pancreas(1)|skin(1) 13 all_epithelial(106;1.55e-12)|Lung NSC(106;1.67e-05)|all_lung(105;3.39e-05)|Ovarian(258;0.00672)|Acute lymphoblastic leukemia(118;0.155) BRCA - Breast invasive adenocarcinoma(115;0.0517) GGGCTGCCGCCGCGGCGTCCA 0.726000 HNSCC(7;0.00092) CYP11B1 1584 broad.mit.edu 37 8 143960475 143960475 + Missense_Mutation SNP C C T TCGA-BR-8369-01A-11D-2340-08 TCGA-BR-8369-10A-01D-2341-08 Untested Somatic Phase_I WXS none Illumina GAIIx 289a4096-4e30-4505-a60b-7c3a89da7ee6 acc4a8fb-74bb-4009-b4b7-23941bc1469a g.chr8:143960475C>T uc003yxi.2 - 2 375 c.368G>A c.(367-369)CGT>CAT p.R123H CYP11B1_uc003yxh.2_5'Flank|CYP11B1_uc003yxj.2_Missense_Mutation_p.R123H|CYP11B1_uc010mey.2_Missense_Mutation_p.R168H NM_000497 NP_000488 P15538 C11B1_HUMAN cytochrome P450, family 11, subfamily B, 123 aldosterone biosynthetic process|cellular response to hormone stimulus|cellular response to potassium ion|cortisol biosynthetic process|glucose homeostasis|immune response|regulation of blood pressure|response to stress|xenobiotic metabolic process mitochondrial inner membrane electron carrier activity|steroid 11-beta-monooxygenase activity ovary(3) 3 all_cancers(97;4.74e-11)|all_epithelial(106;2.06e-08)|Lung NSC(106;0.000228)|all_lung(105;0.000633)|Medulloblastoma(13;0.00276)|all_neural(13;0.00559)|Ovarian(258;0.0254)|Acute lymphoblastic leukemia(118;0.155) Mitotane(DB00648) TTTGTGCCCACGATGTTGTCT 0.632000 Familial_Hyperaldosteronism_type_I PTPRD 5789 broad.mit.edu 37 9 8518139 8518139 + Missense_Mutation SNP A A G TCGA-BR-8369-01A-11D-2340-08 TCGA-BR-8369-10A-01D-2341-08 Untested Somatic Phase_I WXS none Illumina GAIIx 289a4096-4e30-4505-a60b-7c3a89da7ee6 acc4a8fb-74bb-4009-b4b7-23941bc1469a g.chr9:8518139A>G uc003zkk.2 - 20 1963 c.1252T>C c.(1252-1254)TCC>CCC p.S418P PTPRD_uc003zkp.2_Missense_Mutation_p.S418P|PTPRD_uc003zkq.2_Missense_Mutation_p.S418P|PTPRD_uc003zkr.2_Missense_Mutation_p.S412P|PTPRD_uc003zks.2_Missense_Mutation_p.S408P|PTPRD_uc003zkl.2_Missense_Mutation_p.S418P|PTPRD_uc003zkm.2_Missense_Mutation_p.S405P|PTPRD_uc003zkn.2_Missense_Mutation_p.S418P|PTPRD_uc003zko.2_Missense_Mutation_p.S415P NM_002839 NP_002830 P23468 PTPRD_HUMAN protein tyrosine phosphatase, receptor type, D 418 Fibronectin type-III 2.|Extracellular (Potential). transmembrane receptor protein tyrosine phosphatase signaling pathway integral to plasma membrane protein binding|transmembrane receptor protein tyrosine phosphatase activity lung(14)|large_intestine(3)|ovary(2)|breast(2)|urinary_tract(1) 22 all_cancers(3;3.38e-95)|all_epithelial(3;2.84e-91)|all_lung(3;7.3e-56)|Lung NSC(3;1.82e-52)|Renal(3;3.42e-19)|all_hematologic(3;0.000134)|all_neural(3;0.00409)|Acute lymphoblastic leukemia(23;0.0069)|Melanoma(3;0.0121)|Myeloproliferative disorder(4;0.0122)|Medulloblastoma(3;0.0144)|Lung SC(3;0.0301)|Ovarian(56;0.0694)|Hepatocellular(3;0.0824) all cancers(1;3.38e-12)|Epithelial(1;2.12e-09)|STAD - Stomach adenocarcinoma(1;1.29e-07)|KIRC - Kidney renal clear cell carcinoma(3;5.49e-07)|Kidney(3;6.36e-07)|GBM - Glioblastoma multiforme(50;9.05e-05)|Lung(1;0.000189)|BRCA - Breast invasive adenocarcinoma(1;0.00178)|LUSC - Lung squamous cell carcinoma(1;0.0115)|LUAD - Lung adenocarcinoma(58;0.119) GGGGCACTGGATGGTGCTTGC 0.517000 TSP Lung(15;0.13) ELAVL2 1993 broad.mit.edu 37 9 23762096 23762096 + Missense_Mutation SNP A A G TCGA-BR-8369-01A-11D-2340-08 TCGA-BR-8369-10A-01D-2341-08 Untested Somatic Phase_I WXS none Illumina GAIIx 289a4096-4e30-4505-a60b-7c3a89da7ee6 acc4a8fb-74bb-4009-b4b7-23941bc1469a g.chr9:23762096A>G uc003zpu.2 - 2 412 c.137T>C c.(136-138)CTT>CCT p.L46P ELAVL2_uc003zps.2_Missense_Mutation_p.L46P|ELAVL2_uc003zpt.2_Missense_Mutation_p.L46P|ELAVL2_uc003zpv.2_Missense_Mutation_p.L46P|ELAVL2_uc003zpw.2_Missense_Mutation_p.L46P NM_004432 NP_004423 Q12926 ELAV2_HUMAN ELAV (embryonic lethal, abnormal vision, 46 RRM 1. regulation of transcription, DNA-dependent mRNA 3'-UTR binding|nucleotide binding|protein binding ovary(2)|central_nervous_system(1) 3 GBM - Glioblastoma multiforme(1;2.18e-156)|Lung(42;2.15e-28)|LUSC - Lung squamous cell carcinoma(38;1.02e-19) GTTCTGAGGAAGGTAGTTGAC 0.433000 DCAF12 25853 broad.mit.edu 37 9 34125189 34125189 + Silent SNP G G T TCGA-BR-8369-01A-11D-2340-08 TCGA-BR-8369-10A-01D-2341-08 Untested Somatic Phase_I WXS none Illumina GAIIx 289a4096-4e30-4505-a60b-7c3a89da7ee6 acc4a8fb-74bb-4009-b4b7-23941bc1469a g.chr9:34125189G>T uc003ztt.2 - 2 507 c.165C>A c.(163-165)GTC>GTA p.V55V NM_015397 NP_056212 Q5T6F0 DCA12_HUMAN DDB1 and CUL4 associated factor 12 55 centrosome|CUL4 RING ubiquitin ligase complex 0 TCTGTAGCCTGACTTCCCGGT 0.478000 ARID3C 138715 broad.mit.edu 37 9 34623474 34623474 + Silent SNP G G T TCGA-BR-8369-01A-11D-2340-08 TCGA-BR-8369-10A-01D-2341-08 Untested Somatic Phase_I WXS none Illumina GAIIx 289a4096-4e30-4505-a60b-7c3a89da7ee6 acc4a8fb-74bb-4009-b4b7-23941bc1469a g.chr9:34623474G>T uc011lon.1 - 4 813 c.813C>A c.(811-813)TCC>TCA p.S271S DCTN3_uc003zuw.1_5'Flank|DCTN3_uc003zux.1_5'Flank NM_001017363 NP_001017363 A6NKF2 ARI3C_HUMAN AT rich interactive domain 3C (BRIGHT- like) 271 Pro-rich. regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding ovary(1) 1 all_epithelial(49;0.102) STAD - Stomach adenocarcinoma(86;0.178) GBM - Glioblastoma multiforme(74;0.175) CTGGCAGGCCGGAGGTGGAAC 0.682000 TRPM3 80036 broad.mit.edu 37 9 73477848 73477848 + Silent SNP T T A TCGA-BR-8369-01A-11D-2340-08 TCGA-BR-8369-10A-01D-2341-08 Untested Somatic Phase_I WXS none Illumina GAIIx 289a4096-4e30-4505-a60b-7c3a89da7ee6 acc4a8fb-74bb-4009-b4b7-23941bc1469a g.chr9:73477848T>A uc004aid.2 - 3 682 c.438A>T c.(436-438)GGA>GGT p.G146G TRPM3_uc004ahw.2_5'UTR|TRPM3_uc004ahx.2_5'UTR|TRPM3_uc004ahy.2_5'UTR|TRPM3_uc004ahz.2_5'UTR|TRPM3_uc004aia.2_5'UTR|TRPM3_uc004aib.2_5'UTR|TRPM3_uc004aic.2_Silent_p.G146G|TRPM3_uc010mor.2_Silent_p.G146G|TRPM3_uc004aie.2_5'UTR|TRPM3_uc004aif.2_5'UTR|TRPM3_uc004aig.2_5'UTR|TRPM3_uc004aii.2_Silent_p.G148G NM_001007471 NP_001007472 Q9HCF6 TRPM3_HUMAN transient receptor potential cation channel, 146 Cytoplasmic (Potential). integral to membrane calcium channel activity ovary(3)|pancreas(2)|central_nervous_system(2)|skin(2) 9 AATGGCCACCTCCTTGGAACT 0.458000 C9orf95 54981 broad.mit.edu 37 9 77692120 77692120 + Missense_Mutation SNP C C G TCGA-BR-8369-01A-11D-2340-08 TCGA-BR-8369-10A-01D-2341-08 Untested Somatic Phase_I WXS none Illumina GAIIx 289a4096-4e30-4505-a60b-7c3a89da7ee6 acc4a8fb-74bb-4009-b4b7-23941bc1469a g.chr9:77692120C>G uc004aju.2 - 4 722 c.124G>C c.(124-126)GAG>CAG p.E42Q C9orf95_uc004ajs.3_Missense_Mutation_p.E46Q|C9orf95_uc004ajr.3_Missense_Mutation_p.E42Q|C9orf95_uc004ajt.3_Missense_Mutation_p.E42Q NM_017881 NP_060351 Q9NWW6 NRK1_HUMAN nicotinamide riboside kinase 1 isoform 1 42 pyridine nucleotide biosynthetic process ATP binding|metal ion binding|ribosylnicotinamide kinase activity 0 ATCTCAGACTCTGGCTGGAAA 0.294000 NTRK2 4915 broad.mit.edu 37 9 87322806 87322806 + Missense_Mutation SNP G G A rs144037140 TCGA-BR-8369-01A-11D-2340-08 TCGA-BR-8369-10A-01D-2341-08 Untested Somatic Phase_I WXS none Illumina GAIIx 289a4096-4e30-4505-a60b-7c3a89da7ee6 acc4a8fb-74bb-4009-b4b7-23941bc1469a g.chr9:87322806G>A uc004aoa.1 + 7 1345 c.407G>A c.(406-408)CGT>CAT p.R136H NTRK2_uc004anv.1_Missense_Mutation_p.R136H|NTRK2_uc004any.1_Missense_Mutation_p.R136H|NTRK2_uc004anz.1_Missense_Mutation_p.R136H|NTRK2_uc011lsz.1_Missense_Mutation_p.R136H|NTRK2_uc011lta.1_Missense_Mutation_p.R136H|NTRK2_uc004aob.1_Missense_Mutation_p.R136H|NTRK2_uc011ltb.1_5'UTR NM_001018064 NP_001018074 Q16620 NTRK2_HUMAN neurotrophic tyrosine kinase, receptor, type 2 136 Extracellular (Potential).|LRR 2. activation of adenylate cyclase activity|cell differentiation|nerve growth factor receptor signaling pathway|nervous system development integral to plasma membrane ATP binding|neurotrophin receptor activity|transmembrane receptor protein tyrosine kinase activity lung(11)|central_nervous_system(1)|breast(1)|skin(1)|ovary(1)|liver(1) 16 AAACATTTCCGTCACCTTGAC 0.323000 TSP Lung(25;0.17) COL15A1 1306 broad.mit.edu 37 9 101748296 101748296 + Missense_Mutation SNP C C T TCGA-BR-8369-01A-11D-2340-08 TCGA-BR-8369-10A-01D-2341-08 Untested Somatic Phase_I WXS none Illumina GAIIx 289a4096-4e30-4505-a60b-7c3a89da7ee6 acc4a8fb-74bb-4009-b4b7-23941bc1469a g.chr9:101748296C>T uc004azb.1 + 3 756 c.550C>T c.(550-552)CGC>TGC p.R184C COL15A1_uc004aza.2_Missense_Mutation_p.R184C NM_001855 NP_001846 P39059 COFA1_HUMAN alpha 1 type XV collagen precursor 184 TSP N-terminal. angiogenesis|cell differentiation|signal transduction collagen type XV|extracellular space|integral to membrane binding ovary(6) 6 Acute lymphoblastic leukemia(62;0.0562) GGAGCACAGCCGCATCCCCTT 0.582000 SARDH 1757 broad.mit.edu 37 9 136596596 136596596 + Missense_Mutation SNP G G A TCGA-BR-8369-01A-11D-2340-08 TCGA-BR-8369-10A-01D-2341-08 Untested Somatic Phase_I WXS none Illumina GAIIx 289a4096-4e30-4505-a60b-7c3a89da7ee6 acc4a8fb-74bb-4009-b4b7-23941bc1469a g.chr9:136596596G>A uc004cep.3 - 4 655 c.521C>T c.(520-522)GCG>GTG p.A174V SARDH_uc004ceo.2_Missense_Mutation_p.A174V|SARDH_uc011mdn.1_Missense_Mutation_p.A174V|SARDH_uc011mdo.1_Missense_Mutation_p.A6V NM_001134707 NP_001128179 Q9UL12 SARDH_HUMAN sarcosine dehydrogenase precursor 174 glycine catabolic process mitochondrial matrix aminomethyltransferase activity|sarcosine dehydrogenase activity 0 OV - Ovarian serous cystadenocarcinoma(145;3.21e-07)|Epithelial(140;2.37e-06)|all cancers(34;2.75e-05) CACACCATACGCCTTGCCCAG 0.632000 PMPCA 23203 broad.mit.edu 37 9 139309092 139309092 + Silent SNP G G A TCGA-BR-8369-01A-11D-2340-08 TCGA-BR-8369-10A-01D-2341-08 Untested Somatic Phase_I WXS none Illumina GAIIx 289a4096-4e30-4505-a60b-7c3a89da7ee6 acc4a8fb-74bb-4009-b4b7-23941bc1469a g.chr9:139309092G>A uc004chl.2 + 5 530 c.525G>A c.(523-525)CGG>CGA p.R175R PMPCA_uc011mdy.1_Silent_p.R175R|PMPCA_uc010nbk.2_RNA|PMPCA_uc010nbl.2_Silent_p.R75R|PMPCA_uc011mdz.1_Intron|PMPCA_uc004chm.1_5'Flank NM_015160 NP_055975 Q10713 MPPA_HUMAN peptidase (mitochondrial processing) alpha 175 proteolysis mitochondrial inner membrane|mitochondrial matrix metalloendopeptidase activity|zinc ion binding 0 Myeloproliferative disorder(178;0.0821) OV - Ovarian serous cystadenocarcinoma(145;9.3e-06)|Epithelial(140;1.15e-05) TGCAGCCCCGGCTAACAGGTG 0.557000 RS1 6247 broad.mit.edu 37 X 18660255 18660255 + Missense_Mutation SNP G G A rs61753171 TCGA-BR-8369-01A-11D-2340-08 TCGA-BR-8369-10A-01D-2341-08 Untested Somatic Phase_I WXS none Illumina GAIIx 289a4096-4e30-4505-a60b-7c3a89da7ee6 acc4a8fb-74bb-4009-b4b7-23941bc1469a g.chrX:18660255G>A uc004cyo.2 - 6 579 c.544C>T c.(544-546)CGC>TGC p.R182C CDKL5_uc004cym.2_Intron|CDKL5_uc004cyn.2_Intron NM_000330 NP_000321 O15537 XLRS1_HUMAN X-linked juvenile retinoschisis protein 182 F5/8 type C. R -> C (in XLRS1). cell adhesion|multicellular organismal development|response to stimulus|visual perception extracellular space ovary(2) 2 Hepatocellular(33;0.183) GTGGAGGTGCGGTCCGAGTTG 0.592000 TBX22 50945 broad.mit.edu 37 X 79279565 79279565 + Silent SNP G G T TCGA-BR-8369-01A-11D-2340-08 TCGA-BR-8369-10A-01D-2341-08 Untested Somatic Phase_I WXS none Illumina GAIIx 289a4096-4e30-4505-a60b-7c3a89da7ee6 acc4a8fb-74bb-4009-b4b7-23941bc1469a g.chrX:79279565G>T uc010nmg.1 + 4 494 c.360G>T c.(358-360)CGG>CGT p.R120R TBX22_uc004edi.1_5'UTR|TBX22_uc004edj.1_Silent_p.R120R NM_001109878 NP_001103348 Q9Y458 TBX22_HUMAN T-box 22 isoform 1 120 T-box. multicellular organismal development|negative regulation of transcription from RNA polymerase II promoter nucleus DNA binding|sequence-specific DNA binding transcription factor activity lung(7)|large_intestine(3)|central_nervous_system(2)|breast(1)|skin(1)|ovary(1) 15 CTTACAGGCGGATGTTCCCCT 0.478000 FAM46D 169966 broad.mit.edu 37 X 79698243 79698243 + Missense_Mutation SNP A A G TCGA-BR-8369-01A-11D-2340-08 TCGA-BR-8369-10A-01D-2341-08 Untested Somatic Phase_I WXS none Illumina GAIIx 289a4096-4e30-4505-a60b-7c3a89da7ee6 acc4a8fb-74bb-4009-b4b7-23941bc1469a g.chrX:79698243A>G uc004edl.1 + 5 539 c.205A>G c.(205-207)AGT>GGT p.S69G FAM46D_uc004edm.1_Missense_Mutation_p.S69G NM_152630 NP_689843 Q8NEK8 FA46D_HUMAN hypothetical protein LOC169966 69 lung(2) 2 TTCCGTAGCAAGTTACATACT 0.378000 CYLC1 1538 broad.mit.edu 37 X 83127906 83127906 + Missense_Mutation SNP A A G TCGA-BR-8369-01A-11D-2340-08 TCGA-BR-8369-10A-01D-2341-08 Untested Somatic Phase_I WXS none Illumina GAIIx 289a4096-4e30-4505-a60b-7c3a89da7ee6 acc4a8fb-74bb-4009-b4b7-23941bc1469a g.chrX:83127906A>G uc004eei.1 + 4 211 c.190A>G c.(190-192)AGA>GGA p.R64G CYLC1_uc004eeh.1_Missense_Mutation_p.R63G NM_021118 NP_066941 P35663 CYLC1_HUMAN cylicin, basic protein of sperm head 64 cell differentiation|multicellular organismal development|spermatogenesis acrosomal matrix|cytoskeletal calyx structural molecule activity ovary(4)|skin(1) 5 ACATGACAAAAGAAAACTAGA 0.318000 PCDH19 57526 broad.mit.edu 37 X 99551362 99551362 + Missense_Mutation SNP T T A TCGA-BR-8369-01A-11D-2340-08 TCGA-BR-8369-10A-01D-2341-08 Untested Somatic Phase_I WXS none Illumina GAIIx 289a4096-4e30-4505-a60b-7c3a89da7ee6 acc4a8fb-74bb-4009-b4b7-23941bc1469a g.chrX:99551362T>A uc010nmz.2 - 6 5036 c.3360A>T c.(3358-3360)AAA>AAT p.K1120N PCDH19_uc004efw.3_Missense_Mutation_p.K1072N|PCDH19_uc004efx.3_Missense_Mutation_p.K1073N NM_020766 NP_001098713 Q8TAB3 PCD19_HUMAN protocadherin 19 isoform b 1120 Cytoplasmic (Potential). homophilic cell adhesion integral to membrane|plasma membrane calcium ion binding ovary(2)|breast(2)|upper_aerodigestive_tract(1)|urinary_tract(1)|skin(1) 7 CATGCATGACTTTCTCGCTAT 0.542000 DCX 1641 broad.mit.edu 37 X 110653315 110653315 + Missense_Mutation SNP A A C TCGA-BR-8369-01A-11D-2340-08 TCGA-BR-8369-10A-01D-2341-08 Untested Somatic Phase_I WXS none Illumina GAIIx 289a4096-4e30-4505-a60b-7c3a89da7ee6 acc4a8fb-74bb-4009-b4b7-23941bc1469a g.chrX:110653315A>C uc004epd.2 - 2 727 c.555T>G c.(553-555)ATT>ATG p.I185M DCX_uc011msv.1_Missense_Mutation_p.I185M|DCX_uc004epe.2_Missense_Mutation_p.I104M|DCX_uc004epf.2_Missense_Mutation_p.I104M|DCX_uc004epg.2_Missense_Mutation_p.I104M NM_000555 NP_000546 O43602 DCX_HUMAN doublecortin isoform a 185 Doublecortin 1. I -> T (in SBHX). axon guidance|central nervous system development|intracellular signal transduction cytosol|microtubule associated complex microtubule binding central_nervous_system(2)|lung(1)|skin(1) 4 CAATGGTGTAAATGTAACGCA 0.517000 PLB1 151056 broad.mit.edu 37 2 28805000 28805004 + Splice_Site DEL GGTAC GGTAC - rs146417418 TCGA-BR-8369-01A-11D-2340-08 TCGA-BR-8369-10A-01D-2341-08 Untested Somatic Phase_I WXS none Illumina GAIIx 289a4096-4e30-4505-a60b-7c3a89da7ee6 acc4a8fb-74bb-4009-b4b7-23941bc1469a g.chr2:28804999_28805003AGGTAC>A uc002rmb.2 + 24 1676 c.1632_splice c.e24+1 p.E544_splice PLB1_uc010ezj.2_Intron|PLB1_uc002rmc.3_Splice_Site_p.E232_splice|PLB1_uc002rmd.1_Splice_Site_p.E54_splice NM_153021 NP_694566 Q6P1J6 PLB1_HUMAN Homo sapiens phospholipase B1 (PLB1), transcript variant 1, mRNA. 544 4 X 308-326 AA approximate repeats. lipid catabolic process|retinoid metabolic process|steroid metabolic process apical plasma membrane|integral to membrane lysophospholipase activity|phospholipase A2 activity|retinyl-palmitate esterase activity NS(2)|breast(1)|central_nervous_system(1)|endometrium(6)|kidney(2)|large_intestine(10)|lung(31)|ovary(6)|prostate(1)|skin(7)|stomach(2) 69 Acute lymphoblastic leukemia(172;0.155) CTCCATGCTGAGGTACGGAGGCTAG 0.537 ACAT1 38 broad.mit.edu 37 11 108013170 108013171 + Frame_Shift_Ins INS - - A TCGA-BR-8369-01A-11D-2340-08 TCGA-BR-8369-10A-01D-2341-08 Untested Somatic Phase_I WXS none Illumina GAIIx 289a4096-4e30-4505-a60b-7c3a89da7ee6 acc4a8fb-74bb-4009-b4b7-23941bc1469a g.chr11:108013170_108013171insA uc001pjy.2 + 9 909_910 c.833_834insA c.(832-834)GTAfs p.V278fs ACAT1_uc001pjx.2_Frame_Shift_Ins_p.V152fs NM_000019 NP_000010 P24752 THIL_HUMAN acetyl-Coenzyme A acetyltransferase 1 precursor 278 acetoacetic acid biosynthetic process|branched chain family amino acid catabolic process|ketone body biosynthetic process|ketone body catabolic process mitochondrial matrix acetyl-CoA C-acetyltransferase activity|metal ion binding ovary(3) 3 all_cancers(61;6.41e-10)|all_epithelial(67;2.83e-06)|Melanoma(852;1.46e-05)|Acute lymphoblastic leukemia(157;3.95e-05)|all_hematologic(158;0.00014)|Breast(348;0.0258)|all_neural(303;0.072) BRCA - Breast invasive adenocarcinoma(274;2.96e-05)|Epithelial(105;4.35e-05)|all cancers(92;0.00108)|OV - Ovarian serous cystadenocarcinoma(223;0.192) Sulfasalazine(DB00795) TCAGGCACAGTAACAGCTGCCA 0.371 PEX11B 8799 broad.mit.edu 37 1 145517343 145517343 + Frame_Shift_Del DEL A A - TCGA-BR-8369-01A-11D-2340-08 TCGA-BR-8369-10A-01D-2341-08 Untested Somatic Phase_I WXS none Illumina GAIIx 289a4096-4e30-4505-a60b-7c3a89da7ee6 acc4a8fb-74bb-4009-b4b7-23941bc1469a g.chr1:145517342_145517342GA>G uc001eny.2 + 1 362 c.126_126GA>G c.(124-126)cagfs p.Q42fs GNRHR2_uc009wiv.2_5'Flank|GNRHR2_uc010oyt.1_5'Flank|GNRHR2_uc001enx.3_5'Flank|PEX11B_uc010oyu.2_Frame_Shift_Del_p.Q28fs NM_003846 NP_003837 O96011 PX11B_HUMAN Homo sapiens peroxisomal biogenesis factor 11 beta (PEX11B), transcript variant 1, mRNA. 42 peroxisome fission|signal transduction integral to peroxisomal membrane protein binding breast(1)|endometrium(1)|large_intestine(2)|lung(2)|skin(1) 7 all_hematologic(18;0.0187)|Acute lymphoblastic leukemia(18;0.0786) CTGAGTTACAGAAACAGATTC 0.542 PLB1 151056 broad.mit.edu 37 2 28805000 28805004 + Splice_Site DEL GGTAC GGTAC - rs146417418 TCGA-BR-8369-01A-11D-2340-08 TCGA-BR-8369-10A-01D-2341-08 Untested Somatic Phase_I WXS none Illumina GAIIx 289a4096-4e30-4505-a60b-7c3a89da7ee6 acc4a8fb-74bb-4009-b4b7-23941bc1469a g.chr2:28804999_28805003AGGTAC>A uc002rmb.2 + 24 1676 c.1632_splice c.e24+1 p.E544_splice PLB1_uc010ezj.2_Intron|PLB1_uc002rmc.3_Splice_Site_p.E232_splice|PLB1_uc002rmd.1_Splice_Site_p.E54_splice NM_153021 NP_694566 Q6P1J6 PLB1_HUMAN Homo sapiens phospholipase B1 (PLB1), transcript variant 1, mRNA. 544 4 X 308-326 AA approximate repeats. lipid catabolic process|retinoid metabolic process|steroid metabolic process apical plasma membrane|integral to membrane lysophospholipase activity|phospholipase A2 activity|retinyl-palmitate esterase activity NS(2)|breast(1)|central_nervous_system(1)|endometrium(6)|kidney(2)|large_intestine(10)|lung(31)|ovary(6)|prostate(1)|skin(7)|stomach(2) 69 Acute lymphoblastic leukemia(172;0.155) CTCCATGCTGAGGTACGGAGGCTAG 0.537 BAZ2B 29994 broad.mit.edu 37 2 160206502 160206505 + Frame_Shift_Del DEL TTAT TTAT - TCGA-BR-8369-01A-11D-2340-08 TCGA-BR-8369-10A-01D-2341-08 Untested Somatic Phase_I WXS none Illumina GAIIx 289a4096-4e30-4505-a60b-7c3a89da7ee6 acc4a8fb-74bb-4009-b4b7-23941bc1469a g.chr2:160206501_160206504ATTAT>A uc002uao.3 - 27 4983_4986 c.4578_4581ATAAT>T c.(4576-4581)aataatfs p.N1526fs BAZ2B_uc002uap.3_Frame_Shift_Del_p.N1490fs NM_013450 NP_038478 Q9UIF8 BAZ2B_HUMAN Homo sapiens bromodomain adjacent to zinc finger domain, 2B (BAZ2B), mRNA. 1526 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|protein binding|zinc ion binding NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(11)|large_intestine(7)|liver(2)|lung(41)|ovary(3)|prostate(1)|skin(2)|soft_tissue(1)|urinary_tract(1) 82 TATTAAACAGATTATTAGAGTCTG 0.426 ACAT1 38 broad.mit.edu 37 11 108013171 108013172 + Frame_Shift_Ins INS - - A TCGA-BR-8369-01A-11D-2340-08 TCGA-BR-8369-10A-01D-2341-08 Untested Somatic Phase_I WXS none Illumina GAIIx 289a4096-4e30-4505-a60b-7c3a89da7ee6 acc4a8fb-74bb-4009-b4b7-23941bc1469a g.chr11:108013170_108013171T>TA uc001pjy.3 + 8 909_910 c.833_834T>TA c.(832-834)gtafs p.V278fs ACAT1_uc001pjx.3_Frame_Shift_Ins_p.V152fs NM_000019 NP_000010 P24752 THIL_HUMAN Homo sapiens acetyl-CoA acetyltransferase 1 (ACAT1), nuclear gene encoding mitochondrial protein, mRNA. 278 acetoacetic acid biosynthetic process|branched chain family amino acid catabolic process|ketone body biosynthetic process|ketone body catabolic process mitochondrial matrix acetyl-CoA C-acetyltransferase activity|metal ion binding endometrium(1)|large_intestine(1)|lung(3)|ovary(3)|prostate(2) 10 all_cancers(61;6.41e-10)|all_epithelial(67;2.83e-06)|Melanoma(852;1.46e-05)|Acute lymphoblastic leukemia(157;3.95e-05)|all_hematologic(158;0.00014)|Breast(348;0.0258)|all_neural(303;0.072) BRCA - Breast invasive adenocarcinoma(274;2.96e-05)|Epithelial(105;4.35e-05)|all cancers(92;0.00108)|OV - Ovarian serous cystadenocarcinoma(223;0.192) Sulfasalazine(DB00795) TCAGGCACAGTAACAGCTGCCA 0.436